diff --git "a/CPTAC/CCRCC/CCRCC_somatic_mutation.maf" "b/CPTAC/CCRCC/CCRCC_somatic_mutation.maf" new file mode 100644--- /dev/null +++ "b/CPTAC/CCRCC/CCRCC_somatic_mutation.maf" @@ -0,0 +1,8834 @@ +gene_name Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 Variant_Classification Variant_Type tx exon txChange aaChange Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene cytoBand Tumor_Sample_Barcode ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS avsnp150 DamagePredCount SIFT_pred SIFT4G_pred Polyphen2_HDIV_pred Polyphen2_HVAR_pred LRT_pred MutationTaster_pred MutationAssessor_pred FATHMM_pred PROVEAN_pred VEST4_score MetaSVM_pred MetaLR_pred M-CAP_pred REVEL_score MutPred_score MVP_score MPC_score PrimateAI_pred DEOGEN2_pred BayesDel_addAF_pred BayesDel_noAF_pred ClinPred_pred LIST-S2_pred CADD_raw CADD_phred DANN_score fathmm-MKL_coding_pred fathmm-XF_coding_pred Eigen-raw_coding Eigen-phred_coding Eigen-PC-raw_coding Eigen-PC-phred_coding GenoCanyon_score integrated_fitCons_score GM12878_fitCons_score H1-hESC_fitCons_score HUVEC_fitCons_score LINSIGHT GERP++_NR GERP++_RS phyloP100way_vertebrate phyloP30way_mammalian phyloP17way_primate phastCons100way_vertebrate phastCons30way_mammalian phastCons17way_primate bStatistic Interpro_domain GTEx_V8_gene GTEx_V8_tissue cosmic92Coding Hugo_Symbol n_ref_count n_alt_count t_ref_count t_alt_count TumorVAF getz washu +ENSG00000116721.9 . BCM GRCh38.p13 chr1 12795514 12795514 + C C A Missense_Mutation SNP ENST00000332296.7 exon4 c.C943A p.Q315K exonic ENSG00000116721.9 . nonsynonymous SNV ENSG00000116721.9:ENST00000332296.7:exon4:c.C943A:p.Q315K 1p36.21 C3L-00004 . . . . . . . . . 3.20 T T P B N N M T D 0.258 T T T 0.054 0.514 0.386 1.269 T T T T D T 1.016 11.830 0.920 N N -0.578 1.028 -0.836 0.707 0.000 0.487 0.547 0.574 0.564 . 1.560 0.520 0.257 -1.252 -0.358 0.001 0.000 0.000 888 . . . . PRAMEF1 276 1 311 90 0.224438902743142 NA TRUE +ENSG00000116478.12 . BCM GRCh38.p13 chr1 32331580 32331580 + - NA A Frame_Shift_Ins NA ENST00000373548.8 exon10 c.1087dupA p.Q364Tfs*5 exonic ENSG00000116478.12 . frameshift insertion ENSG00000116478.12:ENST00000373548.8:exon10:c.1087dupA:p.Q364Tfs*5 1p35.1 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDAC1 NA NA NA NA NA NA NA +ENSG00000155367.15 . BCM GRCh38.p13 chr1 112715258 112715258 + G G A Missense_Mutation SNP ENST00000309276.10 exon1 c.C44T p.S15F exonic ENSG00000155367.15 . nonsynonymous SNV ENSG00000155367.15:ENST00000309276.10:exon1:c.C44T:p.S15F 1p13.2 C3L-00004 . . . . . . . . . 5.20 D T P B N D N T N 0.185 T T D 0.081 0.350 0.475 1.382 D T T T D T 3.760 25.700 0.988 N N -0.001 2.508 0.077 2.642 1.000 0.726 0.607 0.594 0.619 . 5.510 5.510 4.211 1.067 0.486 0.991 0.984 0.994 879 . . . . PPM1J 13 0 14 8 0.363636363636364 TRUE TRUE +ENSG00000155380.12 . BCM GRCh38.p13 chr1 112914142 112914142 + C C T Missense_Mutation SNP ENST00000369626.8 exon5 c.G1252A p.D418N exonic ENSG00000155380.12 . nonsynonymous SNV ENSG00000155380.12:ENST00000369626.8:exon5:c.G1252A:p.D418N 1p13.2 C3L-00004 . . . . . . . . . 2.19 T T B B N D L T N 0.134 T T T 0.077 0.453 0.435 0.347 T T T T T . 2.257 21.300 0.970 D N -0.312 1.585 -0.162 1.879 0.935 0.722 0.725 0.699 0.714 . 5.730 2.790 1.614 1.026 0.599 1.000 1.000 0.954 817 Major_facilitator_superfamily_domain . . . SLC16A1 220 0 272 54 0.165644171779141 TRUE TRUE +ENSG00000173171.14 . BCM GRCh38.p13 chr1 155212451 155212451 + A A C Missense_Mutation SNP ENST00000368376.7 exon5 c.A838C p.M280L exonic ENSG00000173171.14 . nonsynonymous SNV ENSG00000173171.14:ENST00000368376.7:exon5:c.A838C:p.M280L 1q22 C3L-00004 . . . . . . . . . 2.20 T T B B D N L T N 0.444 T T T 0.129 0.583 0.107 0.230 T T T T T T 1.773 17.540 0.837 D N -0.082 2.233 0.008 2.388 1.000 0.707 0.725 0.644 0.723 . 4.080 4.080 1.724 1.308 0.634 0.319 1.000 0.997 62 Mitochondrial_outer_membrane_transport_complex_Sam37/metaxin,_N-terminal_domain . . . MTX1 203 0 192 41 0.175965665236052 NA TRUE +ENSG00000160752.14 . BCM GRCh38.p13 chr1 155319654 155319654 + T T C Missense_Mutation SNP ENST00000356657.10 exon9 c.T890C p.I297T exonic ENSG00000160752.14 . nonsynonymous SNV ENSG00000160752.14:ENST00000356657.10:exon9:c.T890C:p.I297T 1q22 C3L-00004 . . . . . . . . . 15.20 D D P D D D H T D 0.965 T T D 0.724 0.830 0.835 1.075 T D D D D D 4.309 29.700 0.998 D D 0.787 8.536 0.688 7.528 1.000 0.722 0.702 0.698 0.735 . 4.060 4.060 7.715 1.138 0.665 1.000 1.000 0.983 41 . . . . FDPS 216 1 215 55 0.203703703703704 TRUE TRUE +ENSG00000066279.18 . BCM GRCh38.p13 chr1 197101257 197101257 + C C G Missense_Mutation SNP ENST00000367409.9 exon18 c.G7994C p.R2665P exonic ENSG00000066279.18 . nonsynonymous SNV ENSG00000066279.18:ENST00000367409.9:exon18:c.G7994C:p.R2665P 1q31.3 C3L-00004 8.328e-06 0 0 0.0001 0 0 0 0 rs766267818 6.20 D D B B N N M T N 0.404 T D D 0.434 0.639 0.762 . T T T T D T 0.796 9.354 0.983 N N -0.628 0.938 -0.877 0.652 0.954 0.706 0.710 0.644 0.613 . 4.870 -4.390 0.072 0.036 -0.193 0.000 0.051 0.122 177 IQ_motif,_EF-hand_binding_site . . . ASPM 297 0 363 89 0.196902654867257 TRUE NA +ENSG00000168264.10 . BCM GRCh38.p13 chr1 234607482 234607482 + C C A Missense_Mutation SNP ENST00000366609.3 exon2 c.G1419T p.E473D exonic ENSG00000168264.10 . nonsynonymous SNV ENSG00000168264.10:ENST00000366609.3:exon2:c.G1419T:p.E473D 1q42.3 C3L-00004 . . . . . . . . . 2.20 T T B B N D N T N 0.088 T T T 0.052 0.077 0.241 0.437 T T T T T T 1.735 17.270 0.953 D N -0.485 1.206 -0.270 1.626 1.000 0.543 0.522 0.686 0.639 . 5.100 2.970 0.441 0.094 0.599 0.997 1.000 0.999 911 . . . . IRF2BP2 178 1 196 65 0.24904214559387 TRUE NA +ENSG00000116962.15 . BCM GRCh38.p13 chr1 236045638 236045638 + A A C Missense_Mutation SNP ENST00000264187.7 exon3 c.T571G p.Y191D exonic ENSG00000116962.15 . nonsynonymous SNV ENSG00000116962.15:ENST00000264187.7:exon3:c.T571G:p.Y191D 1q42.3 C3L-00004 . . . . . . . . . 17.20 D D D D D D M T D 0.911 D D D 0.856 0.881 0.920 0.953 T D D D D T 4.190 28.600 0.993 D D 0.866 10.220 0.841 11.447 1.000 0.732 0.709 0.710 0.728 . 5.810 5.810 8.521 1.312 0.756 1.000 0.993 0.990 491 NIDO_domain . . . NID1 172 0 207 50 0.194552529182879 TRUE TRUE +ENSG00000138092.11 . BCM GRCh38.p13 chr2 24815605 24815605 + T T A Missense_Mutation SNP ENST00000380834.7 exon5 c.T443A p.L148H exonic ENSG00000138092.11 . nonsynonymous SNV ENSG00000138092.11:ENST00000380834.7:exon5:c.T443A:p.L148H 2p23.3 C3L-00004 . . . . . . . . . 12.20 D D D D N D M T D 0.725 T T D 0.352 0.830 0.732 0.683 T T D D D T 3.769 25.700 0.985 D N 0.631 6.259 0.585 6.036 1.000 0.722 0.723 0.702 0.735 . 5.270 5.270 3.698 1.071 0.665 0.800 0.981 0.966 356 . . . . CENPO 397 0 367 68 0.15632183908046 TRUE TRUE +ENSG00000115339.14 . BCM GRCh38.p13 chr2 165770419 165770419 + C C G Missense_Mutation SNP ENST00000392701.8 exon2 c.G282C p.E94D exonic ENSG00000115339.14 . nonsynonymous SNV ENSG00000115339.14:ENST00000392701.8:exon2:c.G282C:p.E94D 2q24.3 C3L-00004 . . . . . . . . . 0.20 T T B B N N N T N 0.258 T T T 0.079 0.327 0.621 0.081 T T T T T T 1.412 15.160 0.990 N N -0.236 1.778 -0.058 2.171 0.984 0.707 0.588 0.725 0.414 . 5.650 3.680 0.564 1.026 0.599 0.796 0.993 0.974 661 . . . . GALNT3 322 0 321 74 0.187341772151899 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146561 10146561 + G G T Missense_Mutation SNP ENST00000256474.3 exon2 c.G388T p.V130F exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.G388T:p.V130F 3p25.3 C3L-00004 . . . . . . . . . 18.19 . D D D D D M D D 0.953 D D D 0.966 0.889 1.000 1.236 T D D D D D 4.238 29.000 0.996 D D 0.735 7.638 0.676 7.325 1.000 0.732 0.686 0.744 0.735 . 5.070 5.070 7.673 1.176 0.676 1.000 1.000 0.923 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543368;OCCURENCE=7(kidney) VHL 390 1 301 107 0.262254901960784 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47121674 47121674 + C C A Nonsense_Mutation SNP ENST00000409792.3 exon3 c.G2962T p.G988X exonic ENSG00000181555.20 . stopgain ENSG00000181555.20:ENST00000409792.3:exon3:c.G2962T:p.G988X 3p21.31 C3L-00004 . . . . . . . . . 3.6 . . . . N A . . . 0.730 . . . . . . . . . D D . . 4.208 28.700 0.971 N N 0.397 4.325 0.101 2.737 1.000 0.732 0.723 0.744 0.714 . 5.140 2.170 0.517 1.018 0.589 0.001 0.804 0.334 13 . . . . SETD2 128 1 125 46 0.269005847953216 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52587448 52587448 + G G A Nonsense_Mutation SNP ENST00000296302.11 exon19 c.C3028T p.R1010X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon19:c.C3028T:p.R1010X 3p21.1 C3L-00004 . . . . . . . . . 3.6 . . . . D D . . . 0.862 . . . . . . . . . T T . . 2.241 21.200 0.997 D N 0.088 2.840 0.191 3.140 0.007 0.732 0.744 0.725 0.728 . 5.920 5.030 3.179 1.176 0.676 1.000 1.000 0.998 27 Bromo_adjacent_homology_(BAH)_domain . . ID=COSV56258855;OCCURENCE=1(large_intestine),5(kidney) PBRM1 145 0 104 36 0.257142857142857 TRUE TRUE +ENSG00000163931.16 . BCM GRCh38.p13 chr3 53231436 53231436 + G G T Missense_Mutation SNP ENST00000462138.6 exon7 c.C863A p.P288H exonic ENSG00000163931.16 . nonsynonymous SNV ENSG00000163931.16:ENST00000462138.6:exon7:c.C863A:p.P288H 3p21.1 C3L-00004 . . . . . . . . . 10.20 D D P P D D L T D 0.347 T T D 0.181 0.505 0.589 1.109 T D T T D T 3.559 24.900 0.994 D D 0.399 4.340 0.320 3.835 1.000 0.672 0.702 0.702 0.711 . 5.690 3.670 5.360 1.164 0.662 1.000 0.101 0.118 473 . . . . TKT 201 0 156 50 0.242718446601942 TRUE TRUE +ENSG00000144730.18 . BCM GRCh38.p13 chr3 57097862 57097862 + C C G Missense_Mutation SNP ENST00000296318.12 exon12 c.G1841C p.G614A exonic ENSG00000144730.18 . nonsynonymous SNV ENSG00000144730.18:ENST00000296318.12:exon12:c.G1841C:p.G614A 3p14.3 C3L-00004 . . . . . . . . . 0.20 T T B B N N N T N 0.087 T T T 0.038 0.166 0.170 0.137 T T T T T T -0.054 1.032 0.098 N N -1.139 0.273 -1.154 0.323 1.000 0.566 0.574 0.679 0.542 . 4.230 1.170 0.105 0.952 0.549 0.000 0.012 0.009 648 . . . . IL17RD 60 0 51 13 0.203125 TRUE TRUE +ENSG00000145217.14 . BCM GRCh38.p13 chr4 988984 988984 + G G C Missense_Mutation SNP ENST00000398516.3 exon3 c.C1955G p.P652R exonic ENSG00000145217.14 . nonsynonymous SNV ENSG00000145217.14:ENST00000398516.3:exon3:c.C1955G:p.P652R 4p16.3 C3L-00004 . . . . . . . . . 7.20 D D B B N D L D N 0.114 T T D 0.185 0.493 0.896 0.216 T T T T T D 1.660 16.760 0.992 D N -0.424 1.332 -0.390 1.390 1.000 0.581 0.547 0.578 0.605 . 4.250 3.410 2.694 0.222 0.676 0.660 0.003 0.008 789 STAS_domain . . . SLC26A1 145 0 160 34 0.175257731958763 TRUE TRUE +ENSG00000038219.13 . BCM GRCh38.p13 chr4 13599992 13599992 + G G A Missense_Mutation SNP ENST00000040738.10 exon10 c.C6908T p.A2303V exonic ENSG00000038219.13 . nonsynonymous SNV ENSG00000038219.13:ENST00000040738.10:exon10:c.C6908T:p.A2303V 4p15.33 C3L-00004 . . . . . . . . rs996723621 2.20 T T B B N N L T N 0.229 T T T 0.071 0.243 0.305 0.137 T T T T D T 1.832 17.970 0.988 D N -0.237 1.775 -0.116 2.003 1.000 0.737 0.702 0.733 0.714 . 5.370 4.400 4.149 1.176 0.596 0.968 0.007 0.974 619 . . . . BOD1L1 275 0 264 69 0.207207207207207 TRUE NA +ENSG00000174607.11 . BCM GRCh38.p13 chr4 114676052 114676052 + G G C Missense_Mutation SNP ENST00000310836.11 exon6 c.G1390C p.V464L exonic ENSG00000174607.11 . nonsynonymous SNV ENSG00000174607.11:ENST00000310836.11:exon6:c.G1390C:p.V464L 4q26 C3L-00004 . . . . . . . . . 8.20 D T B B D D M T N 0.637 T T D 0.314 0.838 0.681 0.703 T T T T D T 2.420 22.200 0.995 D D 0.098 2.877 0.195 3.161 0.947 0.706 0.547 0.710 0.564 . 5.420 5.420 7.769 1.176 0.676 1.000 0.723 0.818 905 . . . . UGT8 266 0 283 51 0.152694610778443 TRUE TRUE +ENSG00000164190.19 . BCM GRCh38.p13 chr5 37044454 37044454 + T T G Missense_Mutation SNP ENST00000282516.13 exon35 c.T6216G p.D2072E exonic ENSG00000164190.19 . nonsynonymous SNV ENSG00000164190.19:ENST00000282516.13:exon35:c.T6216G:p.D2072E 5p13.2 C3L-00004 . . . . . . . . . 13.20 D D P P D D M T D 0.791 T T D 0.289 0.386 0.893 1.987 D D D T D D 3.012 23.400 0.996 D N 0.239 3.480 0.226 3.311 0.235 0.732 0.725 0.744 0.613 . 5.580 3.100 1.831 1.135 0.604 1.000 1.000 0.998 128 . . . . NIPBL 228 0 270 55 0.169230769230769 TRUE TRUE +ENSG00000069018.19 . BCM GRCh38.p13 chr5 136356735 136356735 + C C T Missense_Mutation SNP ENST00000513104.6 exon2 c.G653A p.R218H exonic ENSG00000069018.19 . nonsynonymous SNV ENSG00000069018.19:ENST00000513104.6:exon2:c.G653A:p.R218H 5q31.1 C3L-00004 . . . . . . . . . 19.19 D . D D D D M D D 0.908 D D D 0.909 0.722 0.938 2.093 D D D D D D 4.126 28.000 1.000 D D 0.911 11.339 0.864 12.289 1.000 0.487 0.574 0.489 0.542 . 5.260 5.260 7.905 1.022 0.596 1.000 0.874 0.980 747 Transient_receptor_ion_channel_domain . . . TRPC7 49 0 67 10 0.12987012987013 TRUE TRUE +ENSG00000151914.20 . BCM GRCh38.p13 chr6 56640448 56640448 + G G C Missense_Mutation SNP ENST00000361203.7 exon14 c.C1552G p.L518V exonic ENSG00000151914.20 . nonsynonymous SNV ENSG00000151914.20:ENST00000361203.7:exon14:c.C1552G:p.L518V 6p12.1 C3L-00004 . . . . . . . . . 7.19 D D D P N . L D N 0.237 T D T 0.212 . 0.650 0.182 T T T T T D 1.632 16.580 0.996 D N -0.216 1.831 -0.144 1.926 1.000 0.707 0.725 0.609 0.714 . 6.070 1.680 1.838 0.224 0.676 1.000 0.995 0.978 314 . . . . DST 155 0 191 40 0.173160173160173 TRUE TRUE +ENSG00000112706.12 . BCM GRCh38.p13 chr6 76005508 76005508 + G G A Missense_Mutation SNP ENST00000369950.8 exon10 c.C914T p.T305M exonic ENSG00000112706.12 . nonsynonymous SNV ENSG00000112706.12:ENST00000369950.8:exon10:c.C914T:p.T305M 6q14.1 C3L-00004 4.128e-05 9.621e-05 0 0 0 6.004e-05 0 0 rs370162508 1.20 T T B B N N N T N 0.142 T T T 0.053 . 0.128 0.014 T T T T D T -0.151 0.648 0.129 N N -1.133 0.278 -1.117 0.358 0.000 0.487 0.574 0.574 0.564 . 5.820 -2.440 0.198 0.063 0.618 0.000 0.602 0.817 376 SEA_domain . . ID=COSV64055755;OCCURENCE=5(large_intestine),1(central_nervous_system) IMPG1 87 0 111 22 0.165413533834586 TRUE TRUE +ENSG00000184486.10 . BCM GRCh38.p13 chr6 98835152 98835152 + G G C Missense_Mutation SNP ENST00000328345.8 exon1 c.G279C p.W93C exonic ENSG00000184486.10 . nonsynonymous SNV ENSG00000184486.10:ENST00000328345.8:exon1:c.G279C:p.W93C 6q16.1 C3L-00004 . . . . . . . . . 11.19 D D B B . D L D D 0.423 T T D 0.394 0.358 0.592 . D D T T D D 3.511 24.700 0.693 D N -0.391 1.403 -0.374 1.419 1.000 0.496 0.492 0.608 0.555 . 2.880 1.930 4.997 1.014 0.391 1.000 1.000 0.991 874 . . . . POU3F2 76 0 92 18 0.163636363636364 TRUE TRUE +ENSG00000164418.20 . BCM GRCh38.p13 chr6 101686343 101686343 + G G T Missense_Mutation SNP ENST00000421544.6 exon9 c.G941T p.G314V exonic ENSG00000164418.20 . nonsynonymous SNV ENSG00000164418.20:ENST00000421544.6:exon9:c.G941T:p.G314V 6q16.3 C3L-00004 . . . . . . . . . 19.20 D D D D D D M D D 0.983 D D D 0.652 0.406 0.973 1.163 D T D D D D 4.543 32 0.998 D D 0.773 8.283 0.817 10.636 1.000 0.638 0.574 0.653 0.564 . 5.840 5.840 9.601 1.155 0.674 1.000 1.000 1.000 809 Receptor,_ligand_binding_region . . . GRIK2 95 1 91 22 0.194690265486726 TRUE TRUE +ENSG00000131018.24 . BCM GRCh38.p13 chr6 152148273 152148273 + A A C Missense_Mutation SNP ENST00000367255.10 exon137 c.T24748G p.S8250A exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon137:c.T24748G:p.S8250A 6q25.2 C3L-00004 . . . . . . . . . 12.20 D D D P D D M T D 0.543 T T D 0.158 0.176 0.578 0.161 T T T T D D 3.456 24.600 0.995 D D 0.575 5.676 0.542 5.569 1.000 0.707 0.725 0.653 0.636 . 5.080 5.080 8.718 1.312 0.756 1.000 0.921 0.768 869 . . . . SYNE1 67 0 76 15 0.164835164835165 TRUE TRUE +ENSG00000198286.9 . BCM GRCh38.p13 chr7 2912189 2912189 + C C T Missense_Mutation SNP ENST00000396946.8 exon23 c.G3127A p.E1043K exonic ENSG00000198286.9 . nonsynonymous SNV ENSG00000198286.9:ENST00000396946.8:exon23:c.G3127A:p.E1043K 7p22.2 C3L-00004 1.659e-05 0 0 0 0 0 0 0.0001 rs757553187 7.20 T T P B D D M T N 0.447 T T D 0.136 0.425 0.609 1.053 T T T T D D 2.154 20.500 0.999 D N -0.213 1.841 -0.242 1.688 0.998 0.706 0.702 0.571 0.613 . 4.530 3.620 5.221 1.026 0.599 1.000 0.167 0.070 958 . . . . CARD11 150 0 163 42 0.204878048780488 TRUE NA +ENSG00000135253.14 . BCM GRCh38.p13 chr7 128878649 128878649 + C C T Missense_Mutation SNP ENST00000613019.4 exon36 c.G4040A p.C1347Y exonic ENSG00000135253.14 . nonsynonymous SNV ENSG00000135253.14:ENST00000613019.4:exon36:c.G4040A:p.C1347Y 7q32.1 C3L-00004 . . . . . . . . . 5.7 . D . . . . . . . 0.954 . . . . . 0.278 . T T D D . D 3.742 25.600 0.839 D . . . . . 1.000 0.162 0.187 0.129 0.059 0.981 5.120 5.120 3.036 1.022 0.596 0.997 0.999 0.972 567 von_Willebrand_factor,_type_D_domain . . . KCP 120 0 140 28 0.166666666666667 TRUE TRUE +ENSG00000172167.8 . BCM GRCh38.p13 chr8 120518746 120518746 + A A G Missense_Mutation SNP ENST00000305949.6 exon20 c.A2539G p.I847V exonic ENSG00000172167.8 . nonsynonymous SNV ENSG00000172167.8:ENST00000305949.6:exon20:c.A2539G:p.I847V 8q24.12 C3L-00004 . . . . . . . . . 5.19 T D B B N D M . N 0.262 T T T 0.071 0.315 0.537 0.375 T T T T D T 1.700 17.030 0.979 D N -0.230 1.794 -0.145 1.925 0.956 0.651 0.709 0.659 0.794 . 5.800 4.650 3.059 1.308 0.750 0.990 0.640 0.848 686 MDN2-binding_protein,_C-terminal_domain . . ID=COSV100011887;OCCURENCE=1(endometrium) MTBP 134 0 143 33 0.1875 TRUE TRUE +ENSG00000197858.11 . BCM GRCh38.p13 chr8 144085125 144085125 + T T A Missense_Mutation SNP ENST00000355091.9 exon9 c.T1247A p.L416H exonic ENSG00000197858.11 . nonsynonymous SNV ENSG00000197858.11:ENST00000355091.9:exon9:c.T1247A:p.L416H 8q24.3 C3L-00004 . . . . . . . . . 0.19 T T B B N N L . N 0.157 T T T 0.022 0.624 0.291 0.406 T T T T T T 0.805 9.444 0.688 N N -1.386 0.123 -1.466 0.121 1.000 0.707 0.702 0.723 0.714 . 5.130 -6.030 -0.154 0.160 -0.196 0.000 0.001 0.003 970 . . . . GPAA1 56 0 64 11 0.146666666666667 TRUE TRUE +ENSG00000153707.17 . BCM GRCh38.p13 chr9 8465507 8465507 + A A T Missense_Mutation SNP ENST00000381196.8 exon29 c.T3673A p.Y1225N exonic ENSG00000153707.17 . nonsynonymous SNV ENSG00000153707.17:ENST00000381196.8:exon29:c.T3673A:p.Y1225N 9p24.1 C3L-00004 . . . . . . . . . 19.19 D D D D D D M D D 0.971 D D D 0.889 0.822 0.866 . D D D D D . 3.389 24.400 0.988 D D 0.769 8.206 0.757 8.961 1.000 0.693 0.574 0.659 0.564 . 5.500 5.500 8.947 1.312 0.756 1.000 1.000 1.000 687 . . . . PTPRD 147 0 198 41 0.171548117154812 TRUE TRUE +ENSG00000155158.20 . BCM GRCh38.p13 chr9 15189627 15189627 + G G T Missense_Mutation SNP ENST00000512701.6 exon13 c.C1180A p.L394I exonic ENSG00000155158.20 . nonsynonymous SNV ENSG00000155158.20:ENST00000512701.6:exon13:c.C1180A:p.L394I 9p22.3 C3L-00004 . . . . . . . . . 2.18 T T . . N D N T N 0.291 T T T 0.037 . 0.206 0.052 T T T T T T 1.256 14.070 0.784 D N -0.347 1.502 -0.118 1.996 0.580 0.706 0.588 0.710 0.636 . 5.930 5.030 1.163 1.176 0.618 0.828 0.641 0.532 784 . . . . TTC39B 173 1 160 49 0.23444976076555 TRUE TRUE +ENSG00000085265.11 . BCM GRCh38.p13 chr9 134914761 134914761 + G G T Missense_Mutation SNP ENST00000371806.4 exon3 c.C266A p.P89H exonic ENSG00000085265.11 . nonsynonymous SNV ENSG00000085265.11:ENST00000371806.4:exon3:c.C266A:p.P89H 9q34.3 C3L-00004 . . . . . . . . . 9.19 T D B B . D M D D 0.330 D D D 0.196 0.345 0.783 0.503 T T T T T D 1.390 15.010 0.976 N N -0.929 0.484 -1.032 0.450 1.000 0.497 0.590 0.547 0.613 . 2.800 -0.235 -0.084 0.148 -0.960 0.012 0.351 0.004 736 . . . ID=COSV65662144;OCCURENCE=1(large_intestine) FCN1 98 0 115 30 0.206896551724138 TRUE TRUE +ENSG00000204175.5 . BCM GRCh38.p13 chr10 46549776 46549776 + C C T Missense_Mutation SNP ENST00000374317.1 exon3 c.G961A p.D321N exonic ENSG00000204175.5 . nonsynonymous SNV ENSG00000204175.5:ENST00000374317.1:exon3:c.G961A:p.D321N 10q11.22 C3L-00004 . . . . . . . . . 3.7 D D . . . . . T N 0.625 . . . . . . . . T . . . T 4.020 27.100 . . D . . . . . . . . . . . . 5.320 1.026 0.549 1.000 0.209 0.923 970 . . . ID=COSV65400701;OCCURENCE=1(prostate) GPRIN2 228 0 297 30 0.0917431192660551 TRUE TRUE +ENSG00000197142.10 . BCM GRCh38.p13 chr10 112427233 112427233 + C C A Missense_Mutation SNP ENST00000393081.5 exon21 c.C1927A p.L643I exonic ENSG00000197142.10 . nonsynonymous SNV ENSG00000197142.10:ENST00000393081.5:exon21:c.C1927A:p.L643I 10q25.2 C3L-00004 . . . . . . . . . 4.20 T T B B N D M T N 0.158 T T T 0.061 0.578 0.255 0.195 T T T T T D 1.298 14.370 0.973 D N -0.655 0.891 -0.683 0.924 0.434 0.707 0.725 0.547 0.492 . 5.950 -4.780 0.296 0.088 0.599 0.881 0.995 0.951 883 . . . . ACSL5 73 0 58 25 0.301204819277108 TRUE TRUE +ENSG00000184363.10 . BCM GRCh38.p13 chr11 396648 396648 + C C G Missense_Mutation SNP ENST00000331563.7 exon2 c.C273G p.F91L exonic ENSG00000184363.10 . nonsynonymous SNV ENSG00000184363.10:ENST00000331563.7:exon2:c.C273G:p.F91L 11p15.5 C3L-00004 . . . . . . . . . 8.20 D D B B U D L D D 0.499 T T D 0.346 0.314 0.807 0.155 T T T T D T 3.167 23.800 0.999 D N -0.226 1.805 -0.146 1.922 1.000 0.696 0.858 0.723 0.604 . 3.410 3.410 0.939 1.021 0.543 0.484 0.997 0.988 900 . . . . PKP3 31 0 30 10 0.25 TRUE TRUE +ENSG00000110497.14 . BCM GRCh38.p13 chr11 46541987 46541987 + T T A Missense_Mutation SNP ENST00000458649.6 exon7 c.A2030T p.Q677L exonic ENSG00000110497.14 . nonsynonymous SNV ENSG00000110497.14:ENST00000458649.6:exon7:c.A2030T:p.Q677L 11p11.2 C3L-00004 . . . . . . . . . 17.20 D D D P D D L D D 0.815 D D D 0.517 0.184 0.862 1.009 T D D D D D 3.747 25.600 0.990 D D 0.475 4.846 0.551 5.664 1.000 0.707 0.725 0.725 0.636 . 5.790 5.790 5.541 1.120 0.644 1.000 1.000 0.997 0 . . . . AMBRA1 275 0 257 72 0.218844984802432 TRUE TRUE +ENSG00000168439.17 . BCM GRCh38.p13 chr11 64194488 64194488 + T T C Missense_Mutation SNP ENST00000305218.9 exon4 c.T371C p.F124S exonic ENSG00000168439.17 . nonsynonymous SNV ENSG00000168439.17:ENST00000305218.9:exon4:c.T371C:p.F124S 11q13.1 C3L-00004 . . . . . . . . . 5.20 D T B B N D M T N 0.403 T T T 0.048 0.343 0.192 0.872 T T T T D T 2.513 22.400 0.988 D N -0.204 1.865 -0.055 2.179 0.820 0.707 0.725 0.702 0.711 . 5.570 3.130 3.207 1.056 0.587 1.000 1.000 0.988 584 . . . . STIP1 91 0 85 18 0.174757281553398 TRUE TRUE +ENSG00000171219.9 . BCM GRCh38.p13 chr11 64832688 64832688 + C C A Missense_Mutation SNP ENST00000342711.6 exon26 c.G2921T p.S974I exonic ENSG00000171219.9 . nonsynonymous SNV ENSG00000171219.9:ENST00000342711.6:exon26:c.G2921T:p.S974I 11q13.1 C3L-00004 . . . . . . . . . 14.20 D D D D D D L T N 0.608 D D D 0.434 0.438 0.891 0.914 D T D D D T 3.748 25.600 0.995 D N 0.436 4.574 0.315 3.805 1.000 0.696 0.588 0.723 0.613 . 4.450 4.450 2.185 1.026 0.599 0.938 0.291 0.083 309 Pleckstrin_homology_domain . . . CDC42BPG 128 0 145 23 0.136904761904762 TRUE TRUE +ENSG00000123106.10 . BCM GRCh38.p13 chr12 28484149 28484149 + T T C Missense_Mutation SNP ENST00000545336.5 exon15 c.T1199C p.I400T exonic ENSG00000123106.10 . nonsynonymous SNV ENSG00000123106.10:ENST00000545336.5:exon15:c.T1199C:p.I400T 12p11.22 C3L-00004 . . . . . . . . . 4.20 D D B B N N N T D 0.531 T T T 0.098 0.202 0.490 0.106 T T T T T T 2.470 22.300 0.973 D N -0.033 2.397 0.026 2.451 0.014 0.706 0.659 0.710 0.670 . 5.710 4.550 4.580 1.120 0.644 0.997 0.913 0.982 791 . . . . CCDC91 82 0 87 24 0.216216216216216 TRUE TRUE +ENSG00000139626.16 . BCM GRCh38.p13 chr12 53197843 53197843 + C C T Missense_Mutation SNP ENST00000267082.10 exon4 c.G310A p.E104K exonic ENSG00000139626.16 . nonsynonymous SNV ENSG00000139626.16:ENST00000267082.10:exon4:c.G310A:p.E104K 12q13.13 C3L-00004 . . . . . . . . . 4.19 T T B B . N L D N 0.186 T D D 0.240 0.460 0.778 1.648 T T T T T D 2.155 20.500 0.989 N N -0.424 1.332 -0.394 1.382 1.000 0.632 0.698 0.378 0.604 . 4.140 2.090 0.298 0.857 0.596 0.007 0.980 0.986 744 Integrin_beta_subunit,_VWA_domain . . . ITGB7 87 0 106 25 0.190839694656489 TRUE TRUE +ENSG00000110955.9 . BCM GRCh38.p13 chr12 56643947 56643947 + - NA T Frame_Shift_Ins NA ENST00000262030.8 exon4 c.496dupA p.I166Nfs*4 exonic ENSG00000110955.9 . frameshift insertion ENSG00000110955.9:ENST00000262030.8:exon4:c.496dupA:p.I166Nfs*4 12q13.3 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP5F1B NA NA NA NA NA NA NA +ENSG00000257594.4 . BCM GRCh38.p13 chr12 89523559 89523559 + T T A Missense_Mutation SNP ENST00000529983.3 exon1 c.A991T p.M331L exonic ENSG00000257594.4;ENSG00000259075.6 . nonsynonymous SNV ENSG00000257594.4:ENST00000529983.3:exon1:c.A991T:p.M331L,ENSG00000259075.6:ENST00000548729.5:exon3:c.A982T:p.M328L 12q21.33 C3L-00004 . . . . . . . . . 14.19 D T D D . D M T N 0.534 D D D 0.434 0.768 0.718 0.657 D T D T D D 3.894 26.300 0.979 D D 0.698 7.090 0.710 7.948 1.000 0.543 0.586 0.659 0.639 . 5.850 5.850 7.958 1.138 0.665 1.000 0.945 0.964 862 . . . . GALNT4 22 0 29 7 0.194444444444444 TRUE TRUE +ENSG00000196387.9 . BCM GRCh38.p13 chr12 133106469 133106469 + T T C Missense_Mutation SNP ENST00000355557.6 exon5 c.T1192C p.F398L exonic ENSG00000196387.9 . nonsynonymous SNV ENSG00000196387.9:ENST00000355557.6:exon5:c.T1192C:p.F398L 12q24.33 C3L-00004 . . . . . . . . . 3.20 D D B B N N N T N 0.117 T T T 0.103 0.553 0.168 0.929 T T T T D T 2.201 20.900 0.993 N N -0.434 1.311 -0.345 1.473 0.013 0.719 0.553 0.702 0.734 . 3.850 3.850 -0.158 0.894 0.575 0.000 0.998 0.998 855 Zinc_finger_C2H2-type . . . ZNF140 111 0 123 27 0.18 TRUE TRUE +ENSG00000182652.3 . BCM GRCh38.p13 chr14 19747467 19747467 + C C A Missense_Mutation SNP ENST00000331723.1 exon1 c.C40A p.L14I exonic ENSG00000182652.3 . nonsynonymous SNV ENSG00000182652.3:ENST00000331723.1:exon1:c.C40A:p.L14I 14q11.2 C3L-00004 . . . . . . . . . 6.20 D D D D U N M T N 0.359 T T T 0.167 0.569 0.407 . T T T T D T 2.650 22.700 0.996 N N 0.493 4.979 0.386 4.263 0.001 0.487 0.574 0.574 0.564 . 4.320 4.320 0.877 1.012 0.584 0.080 0.994 0.976 994 . . . ID=COSV59179396;OCCURENCE=1(endometrium) OR4Q3 43 0 33 6 0.153846153846154 NA TRUE +ENSG00000211780.3 . BCM GRCh38.p13 chr14 21768971 21768971 + A A C Missense_Mutation SNP ENST00000390428.3 exon2 c.A288C p.K96N exonic ENSG00000211780.3 . nonsynonymous SNV ENSG00000211780.3:ENST00000390428.3:exon2:c.A288C:p.K96N 14q11.2 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAV6 177 0 187 39 0.172566371681416 TRUE TRUE +ENSG00000092140.16 . BCM GRCh38.p13 chr14 30602038 30602038 + C C A Missense_Mutation SNP ENST00000206595.11 exon10 c.C917A p.S306Y exonic ENSG00000092140.16 . nonsynonymous SNV ENSG00000092140.16:ENST00000206595.11:exon10:c.C917A:p.S306Y 14q12 C3L-00004 . . . . . . . . . 8.20 D D P B N N M D D 0.401 T T D 0.176 0.423 0.482 0.910 T T T T D T 2.123 20.300 0.994 D N 0.205 3.326 0.244 3.408 0.999 0.732 0.654 0.725 0.728 . 5.720 5.720 3.855 1.026 0.596 1.000 0.240 0.807 886 . . . . G2E3 119 0 120 14 0.104477611940299 TRUE TRUE +ENSG00000090060.18 . BCM GRCh38.p13 chr14 96552516 96552516 + G G T Missense_Mutation SNP ENST00000216277.12 exon17 c.G1558T p.D520Y exonic ENSG00000090060.18 . nonsynonymous SNV ENSG00000090060.18:ENST00000216277.12:exon17:c.G1558T:p.D520Y 14q32.2 C3L-00004 . . . . . . . . . 11.19 D D D P D D L . N 0.523 T T T 0.235 0.338 0.388 0.913 T T D D D D 4.363 31 0.995 D D 0.536 5.327 0.607 6.314 1.000 0.707 0.725 0.725 0.714 . 5.390 5.390 8.182 1.164 0.662 1.000 1.000 0.999 946 . . . . PAPOLA 138 0 108 27 0.2 TRUE TRUE +ENSG00000128965.13 . BCM GRCh38.p13 chr15 40953761 40953761 + T T C Missense_Mutation SNP ENST00000617768.5 exon1 c.T178C p.Y60H exonic ENSG00000128965.13 . nonsynonymous SNV ENSG00000128965.13:ENST00000617768.5:exon1:c.T178C:p.Y60H 15q15.1 C3L-00004 0.0005 0.0001 0.0009 0 0 0.0007 0.0013 0 rs143317285 8.13 . D . . D D . . . 0.867 T T D 0.655 . 0.892 1.743 T . T D T D 4.601 32 0.998 D D 0.834 9.491 0.778 9.503 1.000 0.658 0.707 0.522 0.622 . 5.420 5.420 7.459 1.049 0.609 1.000 0.997 0.984 150 Gamma-glutamyl_cyclotransferase-like . . . CHAC1 133 0 117 23 0.164285714285714 TRUE NA +ENSG00000174197.16 . BCM GRCh38.p13 chr15 41749629 41749630 + AT AT - Frame_Shift_Del DEL ENST00000219905.11 exon17 c.6022_6023del p.I2008Kfs*15 exonic ENSG00000174197.16 . frameshift deletion ENSG00000174197.16:ENST00000219905.11:exon17:c.6022_6023del:p.I2008Kfs*15 15q15.1 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MGA 108 0 125 48 0.277456647398844 TRUE TRUE +ENSG00000196547.15 . BCM GRCh38.p13 chr15 90905398 90905398 + G G A Missense_Mutation SNP ENST00000559717.6 exon3 c.G280A p.V94I exonic ENSG00000196547.15 . nonsynonymous SNV ENSG00000196547.15:ENST00000559717.6:exon3:c.G280A:p.V94I 15q26.1 C3L-00004 . . . . . . . . . 1.20 T T B B N N N T N 0.125 T T T 0.109 0.270 0.352 0.229 T T T T T T 1.775 17.550 0.964 D N -0.580 1.024 -0.429 1.321 1.000 0.672 0.702 0.668 0.636 . 6.000 3.030 3.177 1.176 0.676 0.999 0.064 0.867 643 . . . . MAN2A2 521 0 484 138 0.221864951768489 TRUE NA +ENSG00000180185.11 . BCM GRCh38.p13 chr16 1827809 1827809 + A A G Missense_Mutation SNP ENST00000427358.3 exon1 c.A580G p.K194E exonic ENSG00000180185.11 . nonsynonymous SNV ENSG00000180185.11:ENST00000427358.3:exon1:c.A580G:p.K194E 16p13.3 C3L-00004 . . . . . . . . . 3.20 T T B B N N N D N 0.217 T T D 0.243 0.394 0.689 0.208 T T T T T D 2.033 19.510 0.831 N N -0.949 0.461 -0.817 0.734 1.000 0.628 0.686 0.686 0.658 . 4.450 0.883 1.837 1.311 0.754 0.837 0.998 0.998 628 Fumarylacetoacetase-like,_C-terminal . . . FAHD1 224 0 254 76 0.23030303030303 TRUE TRUE +ENSG00000083093.10 . BCM GRCh38.p13 chr16 23635191 23635191 + T T G Missense_Mutation SNP ENST00000261584.9 exon4 c.A1355C p.N452T exonic ENSG00000083093.10 . nonsynonymous SNV ENSG00000083093.10:ENST00000261584.9:exon4:c.A1355C:p.N452T 16p12.2 C3L-00004 . . . . . . . . . 1.20 T T B B N N M T N 0.243 T T T 0.074 0.187 0.447 0.184 T T T T T T 1.434 15.310 0.970 N N -0.456 1.264 -0.471 1.250 0.282 0.563 0.654 0.609 0.636 . 5.670 3.140 1.083 0.132 0.664 0.031 0.298 0.990 380 . . . . PALB2 265 0 294 78 0.209677419354839 TRUE TRUE +ENSG00000141012.13 . BCM GRCh38.p13 chr16 88841908 88841908 + T T G Missense_Mutation SNP ENST00000268695.10 exon3 c.A308C p.H103P exonic ENSG00000141012.13 . nonsynonymous SNV ENSG00000141012.13:ENST00000268695.10:exon3:c.A308C:p.H103P 16q24.3 C3L-00004 . . . . . . . . . 16.20 D D D D D D N D D 0.619 T T D 0.756 0.569 0.993 0.546 T D D D D D 2.916 23.200 0.806 D D -0.043 2.361 -0.035 2.242 1.000 0.696 0.634 0.723 0.563 . 5.240 4.150 4.087 1.109 0.665 1.000 0.133 0.345 895 Sulfatase,_N-terminal . . . GALNS 490 0 383 77 0.167391304347826 TRUE TRUE +ENSG00000167858.13 . BCM GRCh38.p13 chr17 6800043 6800043 + G G A Missense_Mutation SNP ENST00000338694.7 exon8 c.C1241T p.P414L exonic ENSG00000167858.13 . nonsynonymous SNV ENSG00000167858.13:ENST00000338694.7:exon8:c.C1241T:p.P414L 17p13.1 C3L-00004 . . . . . . . . . 3.20 D D B B N N M T N 0.062 T T T 0.080 0.319 0.515 0.177 T T T T T T 1.750 17.370 0.909 N N -0.830 0.612 -0.869 0.663 0.841 0.497 0.590 0.608 0.530 . 4.570 2.510 1.207 0.194 -0.154 0.002 0.007 0.043 873 . . . . TEKT1 132 0 127 44 0.257309941520468 TRUE TRUE +ENSG00000278540.5 . BCM GRCh38.p13 chr17 37252102 37252102 + G G A Nonsense_Mutation SNP ENST00000614428.4 exon16 c.C1873T p.R625X exonic ENSG00000278540.5 . stopgain ENSG00000278540.5:ENST00000614428.4:exon16:c.C1873T:p.R625X 17q12 C3L-00004 8.242e-06 9.619e-05 0 0 0 0 0 0 rs755352202 5.6 . . . . D A . . . 0.949 . . . . . . . . . D D . . 6.760 36 0.997 D N 0.370 4.164 0.207 3.216 0.005 0.707 0.725 0.725 0.714 . 6.170 3.080 2.196 0.195 -0.153 1.000 0.995 0.718 684 . . . . ACACA 429 0 428 66 0.133603238866397 TRUE NA +ENSG00000204887.4 . BCM GRCh38.p13 chr17 41030070 41030070 + G G C Missense_Mutation SNP ENST00000377747.4 exon1 c.C9G p.S3R exonic ENSG00000204887.4 . nonsynonymous SNV ENSG00000204887.4:ENST00000377747.4:exon1:c.C9G:p.S3R 17q21.2 C3L-00004 . . . . . . . . . 6.16 D D . . N . M T D 0.370 T T T 0.036 0.421 0.081 0.002 T T T T D . 1.889 18.400 0.974 D N -0.138 2.057 -0.158 1.891 0.000 0.487 0.563 0.574 0.542 . 3.950 1.890 2.224 0.207 -0.132 1.000 0.917 0.239 441 . . . . KRTAP1-4 193 0 226 51 0.184115523465704 TRUE TRUE +ENSG00000173801.17 . BCM GRCh38.p13 chr17 41767542 41767542 + G G C Missense_Mutation SNP ENST00000393931.8 exon5 c.C746G p.T249R exonic ENSG00000173801.17 . nonsynonymous SNV ENSG00000173801.17:ENST00000393931.8:exon5:c.C746G:p.T249R 17q21.2 C3L-00004 . . . . . . . . . 19.20 D D D D D D M T D 0.953 D D D 0.818 0.785 0.963 0.506 D D D D D D 4.395 31 0.995 D D 0.966 12.876 0.926 14.923 1.000 0.707 0.725 0.725 0.714 . 5.410 5.410 9.990 1.176 0.676 1.000 0.998 0.996 585 . . . . JUP 179 0 201 62 0.23574144486692 TRUE TRUE +ENSG00000131482.10 . BCM GRCh38.p13 chr17 42911097 42911102 + GAATGG GAATGG - In_Frame_Del DEL ENST00000253801.7 exon5 c.745_750del p.E249_W250del exonic ENSG00000131482.10 . nonframeshift deletion ENSG00000131482.10:ENST00000253801.7:exon5:c.745_750del:p.E249_W250del 17q21.31 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . G6PC 141 0 149 47 0.239795918367347 TRUE TRUE +ENSG00000005884.18 . BCM GRCh38.p13 chr17 50075473 50075473 + T T G Missense_Mutation SNP ENST00000320031.13 exon11 c.T1484G p.L495R exonic ENSG00000005884.18 . nonsynonymous SNV ENSG00000005884.18:ENST00000320031.13:exon11:c.T1484G:p.L495R 17q21.33 C3L-00004 . . . . . . . . . 12.20 D T D D D D M T N 0.967 T T D 0.367 0.831 0.693 1.366 T T D D D T 4.349 30 0.997 D D 0.542 5.383 0.568 5.843 1.000 0.706 0.602 0.710 0.714 . 5.150 5.150 5.275 1.138 0.665 1.000 1.000 0.998 817 Integrin_alpha-2 . . . ITGA3 181 0 211 53 0.200757575757576 TRUE TRUE +ENSG00000108826.16 . BCM GRCh38.p13 chr17 50373152 50373152 + C C T Missense_Mutation SNP ENST00000225969.9 exon1 c.G19A p.A7T exonic ENSG00000108826.16 . nonsynonymous SNV ENSG00000108826.16:ENST00000225969.9:exon1:c.G19A:p.A7T 17q21.33 C3L-00004 4.155e-05 9.731e-05 0 0 0 3.023e-05 0 0.0001 rs374090666 0.19 T T B B . N L T N 0.164 T T T 0.051 . 0.291 0.019 T T T T T T 0.345 4.804 0.969 N N -0.901 0.518 -0.858 0.677 1.000 0.468 0.484 0.504 0.273 . 4.800 0.430 -0.187 -0.261 -0.176 0.175 0.025 0.004 918 . . . . MRPL27 159 0 139 25 0.152439024390244 TRUE NA +ENSG00000011143.17 . BCM GRCh38.p13 chr17 58207206 58207206 + A A G Missense_Mutation SNP ENST00000393119.7 exon15 c.T1286C p.L429P exonic ENSG00000011143.17 . nonsynonymous SNV ENSG00000011143.17:ENST00000393119.7:exon15:c.T1286C:p.L429P 17q22 C3L-00004 . . . . . . . . . 15.20 D D D P D D M T D 0.926 T T D 0.770 0.729 0.974 1.105 T D D D D D 3.649 25.200 0.999 D D 0.572 5.652 0.531 5.449 1.000 0.706 0.725 0.710 0.636 . 5.240 5.240 8.854 1.312 0.756 1.000 0.483 0.026 572 . . . . MKS1 267 0 275 70 0.202898550724638 TRUE TRUE +ENSG00000186723.4 . BCM GRCh38.p13 chr19 15807836 15807836 + C C T Missense_Mutation SNP ENST00000641419.1 exon4 c.G202A p.V68I exonic ENSG00000186723.4 . nonsynonymous SNV ENSG00000186723.4:ENST00000641419.1:exon4:c.G202A:p.V68I 19p13.12 C3L-00004 3.533e-05 0 0 0 0 3.209e-05 0 0.0001 rs771720675 0.20 T T B B N N N T N 0.029 T T T 0.011 0.414 0.123 0.413 T T T T T T -0.870 0.017 0.458 N N -1.797 0.024 -1.814 0.032 0.005 0.487 0.547 0.574 0.564 . 4.470 -3.670 -4.569 -3.148 -2.120 0.000 0.000 0.001 976 GPCR,_rhodopsin-like,_7TM . . ID=COSV58470679;OCCURENCE=1(large_intestine),1(stomach),2(pancreas),1(lung) OR10H1 87 1 99 23 0.188524590163934 NA TRUE +ENSG00000128626.11 . BCM GRCh38.p13 chr19 38932360 38932360 + C C T Missense_Mutation SNP ENST00000407800.2 exon2 c.C77T p.A26V exonic ENSG00000128626.11 . nonsynonymous SNV ENSG00000128626.11:ENST00000407800.2:exon2:c.C77T:p.A26V 19q13.2 C3L-00004 . . . . . . . . . 4.19 T D B B N D L T N 0.391 T T T 0.062 0.390 0.502 0.445 T T T T T . 1.690 16.960 0.998 D D -0.301 1.613 -0.156 1.895 1.000 0.706 0.686 0.710 0.651 . 5.200 3.050 2.368 1.016 0.587 0.120 0.159 0.330 675 . . . . MRPS12 60 0 55 12 0.17910447761194 TRUE TRUE +ENSG00000090013.11 . BCM GRCh38.p13 chr19 40447993 40447993 + A A C Missense_Mutation SNP ENST00000263368.9 exon5 c.T517G p.S173A exonic ENSG00000090013.11 . nonsynonymous SNV ENSG00000090013.11:ENST00000263368.9:exon5:c.T517G:p.S173A 19q13.2 C3L-00004 . . . . . . . . . 3.20 T T B B D N L T N 0.151 T T T 0.082 0.475 0.361 0.167 T T T T D T 2.363 21.900 0.992 D N -0.180 1.934 0.038 2.493 1.000 0.732 0.710 0.744 0.734 . 5.490 5.490 3.507 1.311 0.756 1.000 0.782 0.289 758 NAD(P)-binding_domain . . . BLVRB 125 0 146 37 0.202185792349727 TRUE TRUE +ENSG00000126001.16 . BCM GRCh38.p13 chr20 35508059 35508059 + A A G Missense_Mutation SNP ENST00000397527.6 exon32 c.A6775G p.S2259G exonic ENSG00000126001.16 . nonsynonymous SNV ENSG00000126001.16:ENST00000397527.6:exon32:c.A6775G:p.S2259G 20q11.22 C3L-00004 . . . . . . . . . 1.20 T D B B N N L T N 0.164 T T T 0.033 0.117 0.338 0.129 T T T T T T 0.607 7.583 0.983 N N -0.860 0.572 -0.922 0.590 0.984 0.732 0.702 0.744 0.714 . 4.370 0.438 -0.575 1.127 0.665 0.000 0.970 0.966 517 . . . ID=COSV100698743;OCCURENCE=1(stomach) CEP250 151 0 151 58 0.277511961722488 TRUE TRUE +ENSG00000244274.7 . BCM GRCh38.p13 chr20 45408592 45408592 + T T C Missense_Mutation SNP ENST00000372720.7 exon2 c.T419C p.L140P exonic ENSG00000244274.7 . nonsynonymous SNV ENSG00000244274.7:ENST00000372720.7:exon2:c.T419C:p.L140P 20q13.12 C3L-00004 . . . . . . . . . 6.20 D T B B N D L T D 0.688 T T T 0.222 0.734 0.592 0.451 T T T T D T 3.324 24.200 0.979 D D 0.206 3.329 0.243 3.403 1.000 0.672 0.610 0.702 0.655 . 5.670 4.570 4.476 1.138 0.665 0.983 0.994 0.990 915 . . . . DBNDD2 84 0 89 35 0.282258064516129 TRUE TRUE +ENSG00000124198.9 . BCM GRCh38.p13 chr20 48953577 48953577 + G G C Missense_Mutation SNP ENST00000371917.5 exon6 c.G625C p.E209Q exonic ENSG00000124198.9 . nonsynonymous SNV ENSG00000124198.9:ENST00000371917.5:exon6:c.G625C:p.E209Q 20q13.13 C3L-00004 . . . . . . . . . 4.20 T T P B N D L T N 0.398 T T T 0.105 0.323 0.428 0.806 T T T T D T 2.772 23.000 0.998 D D 0.373 4.178 0.521 5.351 1.000 0.672 0.654 0.609 0.711 . 6.060 6.060 6.813 1.176 0.676 1.000 1.000 0.999 937 . . . . ARFGEF2 315 2 363 86 0.191536748329621 TRUE TRUE +ENSG00000100354.21 . BCM GRCh38.p13 chr22 40273463 40273463 + G G C Missense_Mutation SNP ENST00000454349.7 exon7 c.G3004C p.G1002R exonic ENSG00000100354.21 . nonsynonymous SNV ENSG00000100354.21:ENST00000454349.7:exon7:c.G3004C:p.G1002R 22q13.1 C3L-00004 . . . . . . . . . 13.20 T D D D D D M T N 0.614 T T D 0.285 0.625 0.409 0.691 T T D D D D 3.305 24.100 0.999 D D 0.706 7.204 0.721 8.167 1.000 0.737 0.654 0.733 0.679 . 6.040 6.040 3.420 1.176 0.676 1.000 0.997 0.998 653 Argonaute_hook_domain . . . TNRC6B 153 0 154 53 0.256038647342995 TRUE NA +ENSG00000171054.8 . BCM GRCh38.p13 chrX 131544476 131544476 + G G C Missense_Mutation SNP ENST00000338616.5 exon1 c.G403C p.V135L exonic ENSG00000171054.8 . nonsynonymous SNV ENSG00000171054.8:ENST00000338616.5:exon1:c.G403C:p.V135L Xq26.2 C3L-00004 1.14e-05 0 0.0001 0 0 0 0 0 rs776691014 0.19 T T B B U N N T N 0.031 T T T 0.019 0.390 0.660 0.020 T T T T T T 0.173 2.824 0.948 N . . . . . 0.051 . . . . . 4.480 0.761 -0.700 -0.952 -0.126 0.000 0.140 0.517 28 GPCR,_rhodopsin-like,_7TM . . . OR13H1 107 0 101 53 0.344155844155844 TRUE NA +ENSG00000115414.20 . BCM GRCh38.p13 chr2 215397679 215397679 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000115414.20 ENST00000354785.10:exon22:c.3517+1G>A . . 2q35 C3L-00004 . . . . . . . . rs925967935 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.944 33 0.991 D . 1.076 16.511 0.898 13.673 1.000 0.299 0.063 0.070 0.323 0.986 5.780 5.780 7.503 1.026 0.549 1.000 0.829 0.049 789 . . . . FN1 271 1 339 81 0.192857142857143 TRUE NA +ENSG00000158286.13 . BCM GRCh38.p13 chr1 6209173 6209173 + C C A Silent SNP ENST00000377939.5 exon5 c.C528A p.I176I exonic ENSG00000158286.13 . synonymous SNV ENSG00000158286.13:ENST00000377939.5:exon5:c.C528A:p.I176I 1p36.31 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF207 309 0 363 73 0.16743119266055 TRUE TRUE +ENSG00000153827.13 . BCM GRCh38.p13 chr2 229829272 229829272 + C C T Silent SNP ENST00000283943.9 exon7 c.G1227A p.R409R exonic ENSG00000153827.13 . synonymous SNV ENSG00000153827.13:ENST00000283943.9:exon7:c.G1227A:p.R409R 2q36.3 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIP12 165 0 166 36 0.178217821782178 TRUE TRUE +ENSG00000131379.10 . BCM GRCh38.p13 chr3 14684315 14684315 + G G A Silent SNP ENST00000253697.8 exon4 c.G558A p.E186E exonic ENSG00000131379.10 . synonymous SNV ENSG00000131379.10:ENST00000253697.8:exon4:c.G558A:p.E186E 3p25.1 C3L-00004 8.239e-06 0 0 0 0 0 0 6.057e-05 rs779781802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C3orf20 109 0 81 27 0.25 TRUE NA +ENSG00000114857.18 . BCM GRCh38.p13 chr3 42639739 42639739 + A A G Silent SNP ENST00000232978.13 exon13 c.A4035G p.T1345T exonic ENSG00000114857.18 . synonymous SNV ENSG00000114857.18:ENST00000232978.13:exon13:c.A4035G:p.T1345T 3p22.1 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NKTR 64 0 62 18 0.225 TRUE TRUE +ENSG00000109189.13 . BCM GRCh38.p13 chr4 52628152 52628152 + T T C Silent SNP ENST00000441222.8 exon3 c.A129G p.T43T exonic ENSG00000109189.13 . synonymous SNV ENSG00000109189.13:ENST00000441222.8:exon3:c.A129G:p.T43T 4q12 C3L-00004 1.697e-05 0 0 0 0 0 0 0.0001 rs748842503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP46 96 0 94 37 0.282442748091603 TRUE NA +ENSG00000112739.17 . BCM GRCh38.p13 chr6 4032195 4032195 + A A G Silent SNP ENST00000337659.11 exon2 c.A678G p.P226P exonic ENSG00000112739.17 . synonymous SNV ENSG00000112739.17:ENST00000337659.11:exon2:c.A678G:p.P226P 6p25.2 C3L-00004 8.341e-06 0 0 0 0 1.517e-05 0 0 rs771154834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRPF4B 195 0 248 50 0.167785234899329 TRUE NA +ENSG00000079112.10 . BCM GRCh38.p13 chr8 94165792 94165792 + C C T Silent SNP ENST00000027335.8 exon10 c.G1251A p.Q417Q exonic ENSG00000079112.10 . synonymous SNV ENSG00000079112.10:ENST00000027335.8:exon10:c.G1251A:p.Q417Q 8q22.1 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH17 185 0 169 56 0.248888888888889 TRUE TRUE +ENSG00000095319.14 . BCM GRCh38.p13 chr9 128993388 128993388 + C C T Silent SNP ENST00000372577.2 exon26 c.C2832T p.G944G exonic ENSG00000095319.14 . synonymous SNV ENSG00000095319.14:ENST00000372577.2:exon26:c.C2832T:p.G944G 9q34.11 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUP188 229 0 249 77 0.236196319018405 TRUE TRUE +ENSG00000110427.16 . BCM GRCh38.p13 chr11 33591353 33591353 + T T C Silent SNP ENST00000321505.9 exon11 c.T3792C p.P1264P exonic ENSG00000110427.16 . synonymous SNV ENSG00000110427.16:ENST00000321505.9:exon11:c.T3792C:p.P1264P 11p13 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1549L 189 0 223 21 0.0860655737704918 TRUE TRUE +ENSG00000174938.14 . BCM GRCh38.p13 chr16 29873557 29873557 + A A G Silent SNP ENST00000308713.9 exon13 c.T2277C p.D759D exonic ENSG00000174938.14 . synonymous SNV ENSG00000174938.14:ENST00000308713.9:exon13:c.T2277C:p.D759D 16p11.2 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEZ6L2 225 0 220 40 0.153846153846154 TRUE TRUE +ENSG00000244274.7 . BCM GRCh38.p13 chr20 45408585 45408585 + C C T Silent SNP ENST00000372720.7 exon2 c.C412T p.L138L exonic ENSG00000244274.7 . synonymous SNV ENSG00000244274.7:ENST00000372720.7:exon2:c.C412T:p.L138L 20q13.12 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DBNDD2 91 0 94 39 0.293233082706767 TRUE TRUE +ENSG00000204314.12 . BCM GRCh38.p13 chr6 32150966 32150966 + A A T Intron SNP NA NA NA NA intronic ENSG00000204314.12;ENSG00000285085.1 . . . 6p21.32 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRRT1 308 0 282 75 0.210084033613445 TRUE NA +ENSG00000107551.21 . BCM GRCh38.p13 chr10 44971659 44971659 + A A G Intron SNP NA NA NA NA intronic ENSG00000107551.21 . . . 10q11.21 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASSF4 165 0 143 40 0.218579234972678 TRUE NA +ENSG00000140105.18 . BCM GRCh38.p13 chr14 100366065 100366065 + C C A Intron SNP NA NA NA NA intronic ENSG00000140105.18 . . . 14q32.2 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WARS1 134 0 149 15 0.0914634146341463 TRUE NA +ENSG00000140264.20 . BCM GRCh38.p13 chr15 43793885 43793885 + T T A 3'UTR SNP NA NA NA NA UTR3 ENSG00000140264.20 ENST00000381359.5:c.*112T>A . . 15q15.3 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERF2 128 0 121 32 0.209150326797386 TRUE TRUE +ENSG00000287337.1 . BCM GRCh38.p13 chr17 58219464 58219464 + A A - RNA SNP NA NA NA NA ncRNA_exonic ENSG00000287337.1 . . . 17q22 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC005962.2 166 0 175 42 0.193548387096774 TRUE TRUE +ENSG00000132646.11 . BCM GRCh38.p13 chr20 5118710 5118710 + A A C Intron SNP NA NA NA NA intronic ENSG00000132646.11 . . . 20p12.3 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCNA 257 0 274 69 0.201166180758017 TRUE NA +ENSG00000229807.12 . BCM GRCh38.p13 chrX 73826681 73826681 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229807.12;ENSG00000270641.1 . . . Xq13.2 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIST 125 0 122 94 0.435185185185185 TRUE NA +ENSG00000214655.10 . BCM GRCh38.p13 chr10 73800696 73800697 + TT TT AA Unknown MNP ENST00000605216.5 exon24 c.5068_5069delinsAA p.F1690N exonic ENSG00000214655.10 . nonframeshift substitution ENSG00000214655.10:ENST00000605216.5:exon24:c.5068_5069delinsAA:p.F1690N 10q22.2 C3L-00004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSWIM8 67 17 103 17 0.141666666666667 TRUE TRUE +ENSG00000116717.13 . BCM GRCh38.p13 chr1 67687667 67687667 + C C A Missense_Mutation SNP ENST00000370986.9 exon4 c.C391A p.H131N exonic ENSG00000116717.13 . nonsynonymous SNV ENSG00000116717.13:ENST00000370986.9:exon4:c.C391A:p.H131N 1p31.3 C3L-00010 . . . . . . . . . 5.19 T T B B D D . T N 0.231 T T T 0.117 0.303 0.665 2.079 T T T T D T 2.323 21.700 0.939 D D 0.135 3.027 0.237 3.371 1.000 0.660 0.686 0.663 0.658 . 5.160 5.160 3.802 1.026 0.599 1.000 0.999 0.960 823 . . . . GADD45A 179 3 177 11 0.0585106382978723 TRUE NA +ENSG00000186283.14 . BCM GRCh38.p13 chr1 179087994 179087994 + C C A Missense_Mutation SNP ENST00000367627.8 exon4 c.C723A p.H241Q exonic ENSG00000186283.14 . nonsynonymous SNV ENSG00000186283.14:ENST00000367627.8:exon4:c.C723A:p.H241Q 1q25.2 C3L-00010 . . . . . . . . . 12.20 T T D D D D M T D 0.724 T T D 0.305 0.639 0.646 0.690 T T D T D D 2.214 21.000 0.937 D D -0.176 1.945 -0.335 1.494 1.000 0.731 0.699 0.750 0.649 . 5.330 -0.151 -0.156 -0.721 -0.313 0.112 0.641 0.609 488 . . . . TOR3A 127 0 111 21 0.159090909090909 TRUE TRUE +ENSG00000082126.18 . BCM GRCh38.p13 chr2 201654908 201654908 + C C T Missense_Mutation SNP ENST00000409474.8 exon18 c.G1310A p.G437D exonic ENSG00000082126.18 . nonsynonymous SNV ENSG00000082126.18:ENST00000409474.8:exon18:c.G1310A:p.G437D 2q33.1 C3L-00010 1.521e-05 0 0 0 0 0 0.0018 0 rs760552079 16.20 D D D D D D H T D 0.956 D T D 0.492 0.651 0.911 0.422 T T D D D D 3.960 26.700 0.999 D D 1.033 14.974 0.950 16.061 1.000 0.503 0.590 0.547 0.655 . 5.550 5.550 6.673 1.026 0.599 1.000 0.997 0.996 502 Guanylate_kinase-like_domain;Guanylate_kinase/L-type_calcium_channel_beta_subunit . . . MPP4 100 0 86 19 0.180952380952381 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149804 10149804 + C C T Nonsense_Mutation SNP ENST00000256474.3 exon3 c.C481T p.R161X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon3:c.C481T:p.R161X 3p25.3 C3L-00010 . . . . . . . . rs5030818 5.6 . . . . D D . . . 0.950 . . . . . . . . . D D . . 7.563 38 0.994 D N 0.419 4.461 0.245 3.410 0.998 0.722 0.702 0.702 0.735 . 4.860 2.940 1.157 0.128 -0.174 0.999 0.998 0.976 379 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56542817;OCCURENCE=1(large_intestine),2(central_nervous_system),1(paratesticular_tissues),1(stomach),2(soft_tissue),29(kidney),1(pancreas),1(skin),1(prostate) VHL 490 0 307 113 0.269047619047619 TRUE TRUE +ENSG00000109501.14 . BCM GRCh38.p13 chr4 6277561 6277561 + G G A Missense_Mutation SNP ENST00000226760.5 exon2 c.G106A p.E36K exonic ENSG00000109501.14 . nonsynonymous SNV ENSG00000109501.14:ENST00000226760.5:exon2:c.G106A:p.E36K 4p16.1 C3L-00010 . . . . . . . . . 7.20 T T B B N N M D N 0.256 T D D 0.273 0.242 0.985 . D T D T T T 2.231 21.100 0.998 D N -0.301 1.611 -0.218 1.742 1.000 0.706 0.610 0.710 0.636 . 3.420 3.420 4.286 1.176 0.676 0.994 0.875 0.233 981 . . . . WFS1 327 0 271 101 0.271505376344086 TRUE NA +ENSG00000241644.2 . BCM GRCh38.p13 chr7 30755613 30755614 + CA CA - Frame_Shift_Del DEL ENST00000013222.5 exon3 c.554_555del p.L186Afs*24 exonic ENSG00000241644.2 . frameshift deletion ENSG00000241644.2:ENST00000013222.5:exon3:c.554_555del:p.L186Afs*24 7p14.3 C3L-00010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INMT 216 0 176 56 0.241379310344828 TRUE TRUE +ENSG00000055118.15 . BCM GRCh38.p13 chr7 150948935 150948935 + A A T Missense_Mutation SNP ENST00000262186.10 exon10 c.T2513A p.L838Q exonic ENSG00000055118.15 . nonsynonymous SNV ENSG00000055118.15:ENST00000262186.10:exon10:c.T2513A:p.L838Q 7q36.1 C3L-00010 . . . . . . . . . 18.20 D D D D N D H D D 0.869 D D D 0.951 0.829 0.995 2.209 T D D D D D 4.504 32 0.996 D D 0.901 11.083 0.762 9.091 1.000 0.610 0.596 0.494 0.639 . 3.950 3.950 9.319 1.312 0.756 1.000 0.998 0.995 749 Cyclic_nucleotide-binding_domain . . . KCNH2 206 1 193 74 0.277153558052434 TRUE TRUE +ENSG00000185122.11 . BCM GRCh38.p13 chr8 144311994 144311994 + A A C Missense_Mutation SNP ENST00000528838.6 exon9 c.A892C p.K298Q exonic ENSG00000185122.11 . nonsynonymous SNV ENSG00000185122.11:ENST00000528838.6:exon9:c.A892C:p.K298Q 8q24.3 C3L-00010 . . . . . . . . . 9.18 T T D D D D M . N 0.484 T T D 0.279 0.494 0.434 0.175 T T T T D . 3.335 24.200 0.994 D D 0.809 8.957 0.790 9.829 1.000 0.707 0.702 0.723 0.714 . 5.660 5.660 2.487 1.298 0.738 0.987 1.000 0.998 946 Vertebrate_heat_shock_transcription_factor,_C-terminal_domain . . . HSF1 112 1 87 6 0.0645161290322581 TRUE TRUE +ENSG00000186660.15 . BCM GRCh38.p13 chr11 58611608 58611608 + - NA C Frame_Shift_Ins NA ENST00000316059.7 exon6 c.728dupC p.P246Afs*18 exonic ENSG00000186660.15;ENSG00000255073.8 . frameshift insertion ENSG00000186660.15:ENST00000316059.7:exon6:c.728dupC:p.P246Afs*18,ENSG00000255073.8:ENST00000389919.8:exon6:c.728dupC:p.P246Afs*18 11q12.1 C3L-00010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFP91 NA NA NA NA NA NA NA +ENSG00000136040.9 . BCM GRCh38.p13 chr12 94220020 94220020 + C C T Missense_Mutation SNP ENST00000258526.9 exon6 c.C1559T p.T520I exonic ENSG00000136040.9 . nonsynonymous SNV ENSG00000136040.9:ENST00000258526.9:exon6:c.C1559T:p.T520I 12q22 C3L-00010 . . . . . . . . . 0.20 T T B B N N L T N 0.129 T T T 0.021 0.408 0.117 0.443 T T T T T T 0.898 10.410 0.405 N N -0.970 0.437 -1.024 0.459 0.116 0.563 0.654 0.602 0.542 . 5.080 1.070 0.113 -0.277 -0.202 0.008 0.095 0.036 945 . . . . PLXNC1 124 4 83 31 0.271929824561404 TRUE NA +ENSG00000134871.19 . BCM GRCh38.p13 chr13 110504207 110504207 + C C T Missense_Mutation SNP ENST00000360467.7 exon45 c.C4345T p.P1449S exonic ENSG00000134871.19 . nonsynonymous SNV ENSG00000134871.19:ENST00000360467.7:exon45:c.C4345T:p.P1449S 13q34 C3L-00010 . . . . . . . . . 17.20 T D D D D D M D D 0.150 D D D 0.564 0.395 0.951 0.308 T D D D D T 2.689 22.800 0.999 D D 0.410 4.406 0.289 3.655 1.000 0.672 0.547 0.723 0.711 . 5.200 5.200 3.635 1.026 0.599 0.986 0.937 0.352 982 . . . . COL4A2 159 0 139 34 0.196531791907514 TRUE TRUE +ENSG00000054654.18 . BCM GRCh38.p13 chr14 64048079 64048079 + G G T Missense_Mutation SNP ENST00000344113.8 exon46 c.G7301T p.R2434L exonic ENSG00000054654.18 . nonsynonymous SNV ENSG00000054654.18:ENST00000344113.8:exon46:c.G7301T:p.R2434L 14q23.2 C3L-00010 . . . . . . . . . 5.20 D D B B N D N T N 0.330 T T D 0.045 0.238 0.401 0.067 T T T T T T 1.924 18.680 0.929 D N -0.558 1.064 -0.371 1.424 0.307 0.732 0.744 0.659 0.655 . 5.700 3.370 1.507 -0.039 -0.100 1.000 0.996 0.996 630 . . . ID=COSV100646616;OCCURENCE=2(skin) SYNE2 182 0 119 10 0.0775193798449612 TRUE NA +ENSG00000008517.17 . BCM GRCh38.p13 chr16 3067564 3067564 + T T C Missense_Mutation SNP ENST00000534507.5 exon3 c.T203C p.I68T exonic ENSG00000008517.17 . nonsynonymous SNV ENSG00000008517.17:ENST00000534507.5:exon3:c.T203C:p.I68T 16p13.3 C3L-00010 8.252e-06 0 8.642e-05 0 0 0 0 0 rs748365535 3.19 D D B B . N N T D 0.244 T T T 0.297 0.508 0.509 0.136 T T T T T T 1.275 14.210 0.922 N N -0.982 0.424 -1.024 0.460 1.000 0.722 0.522 0.659 0.735 . 2.030 2.030 0.263 0.771 0.611 0.000 0.001 0.001 749 . . . . IL32 160 0 183 53 0.224576271186441 TRUE NA +ENSG00000125991.19 . BCM GRCh38.p13 chr20 35542574 35542574 + T T C Missense_Mutation SNP ENST00000348547.6 exon3 c.T221C p.V74A exonic ENSG00000125991.19 . nonsynonymous SNV ENSG00000125991.19:ENST00000348547.6:exon3:c.T221C:p.V74A 20q11.22 C3L-00010 . . . . . . . . . 15.20 D D P B D D M T D 0.823 D D D 0.507 0.708 0.741 0.773 T T D D D D 3.727 25.500 0.998 D D 0.565 5.584 0.609 6.336 1.000 0.628 0.522 0.522 0.658 . 5.910 5.910 7.927 1.130 0.601 1.000 0.994 0.995 489 Endoplasmic_reticulum_vesicle_transporter,_N-terminal . . . ERGIC3 180 0 163 47 0.223809523809524 TRUE TRUE +ENSG00000197779.13 . BCM GRCh38.p13 chrX 47915476 47915476 + C C A Missense_Mutation SNP ENST00000376954.5 exon6 c.C830A p.T277N exonic ENSG00000197779.13 . nonsynonymous SNV ENSG00000197779.13:ENST00000376954.5:exon6:c.C830A:p.T277N Xp11.23 C3L-00010 . . . . . . . . . 1.19 T T B B N N N T N 0.145 T T D 0.041 0.202 0.429 0.194 T T T T T T 1.451 15.420 0.938 N . . . . . 0.001 . . . . . 3.920 0.844 -2.669 0.877 0.599 0.000 0.994 0.990 422 Zinc_finger_C2H2-type . . . ZNF81 360 0 214 145 0.403899721448468 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53224848 53224848 + G G C Missense_Mutation SNP ENST00000375401.8 exon1 c.C42G p.C14W exonic ENSG00000126012.12 . nonsynonymous SNV ENSG00000126012.12:ENST00000375401.8:exon1:c.C42G:p.C14W Xp11.22 C3L-00010 . . . . . . . . . 19.19 D D D D D D M D D 0.724 D D D 0.824 0.453 0.979 3.074 D D D D D D 4.167 28.400 0.993 D . . . . . 1.000 . . . . . 4.940 4.080 4.236 0.245 0.676 1.000 1.000 0.999 68 JmjN_domain . . ID=COSV62890990;OCCURENCE=1(kidney) KDM5C 87 0 40 37 0.480519480519481 TRUE TRUE +ENSG00000151914.20 . BCM GRCh38.p13 chr6 56555678 56555678 + A A G Silent SNP ENST00000361203.7 exon56 c.T14170C p.L4724L exonic ENSG00000151914.20 . synonymous SNV ENSG00000151914.20:ENST00000361203.7:exon56:c.T14170C:p.L4724L 6p12.1 C3L-00010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DST 136 0 111 36 0.244897959183673 TRUE TRUE +ENSG00000163395.17 . BCM GRCh38.p13 chr1 201212565 201212565 + C C T Intron SNP NA NA NA NA intronic ENSG00000163395.17 . . . 1q32.1 C3L-00010 . . . . . . . . . 0.15 T T . . . N . T N 0.106 T T T 0.027 0.370 0.186 . T . T T T T 0.181 2.911 0.927 N N -0.704 0.806 -0.783 0.782 0.000 0.487 0.590 0.574 0.542 . 3.010 1.930 -0.351 0.133 0.540 0.000 0.000 0.022 917 . . . . IGFN1 129 0 99 41 0.292857142857143 TRUE TRUE +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167258135 167258135 + G G C 3'UTR SNP NA NA NA NA UTR3 ENSG00000163092.21 ENST00000628543.2:c.*318G>C . . 2q24.3 C3L-00010 . . . . . . . . . 0.16 T T P B . N . T N 0.140 T T T 0.154 0.192 0.166 . . . T T T T 1.224 13.820 0.433 N N -0.358 1.476 -0.374 1.419 0.615 0.554 0.574 0.602 0.621 . 6.060 4.230 1.304 1.176 0.676 0.157 0.989 0.998 563 . . . . XIRP2 183 0 139 39 0.219101123595506 TRUE NA +ENSG00000082126.18 . BCM GRCh38.p13 chr2 201661561 201661561 + A A C Intron SNP NA NA NA NA intronic ENSG00000082126.18 . . . 2q33.1 C3L-00010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPP4 410 0 338 104 0.235294117647059 TRUE NA +ENSG00000177830.18 . BCM GRCh38.p13 chr11 910767 910767 + G G A Intron SNP NA NA NA NA intronic ENSG00000177830.18 . . . 11p15.5 C3L-00010 . . . . . . . . rs997651825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHID1 25 0 26 8 0.235294117647059 TRUE NA +ENSG00000142623.11 . BCM GRCh38.p13 chr1 17224370 17224370 + T T G Missense_Mutation SNP ENST00000375471.5 exon4 c.T350G p.I117S exonic ENSG00000142623.11 . nonsynonymous SNV ENSG00000142623.11:ENST00000375471.5:exon4:c.T350G:p.I117S 1p36.13 C3L-00011 . . . . . . . . . 8.19 D D D P N N M T D 0.744 T T T 0.366 0.887 0.532 0.114 T T T T D . 3.699 25.400 0.994 D D 0.531 5.286 0.427 4.558 0.997 0.497 0.563 0.547 0.542 . 4.190 4.190 6.177 1.138 0.665 0.732 0.081 0.554 759 Protein-arginine_deiminase_(PAD),_central_domain . . . PADI1 147 1 130 66 0.336734693877551 TRUE TRUE +ENSG00000162520.15 . BCM GRCh38.p13 chr1 32694879 32694879 + C C A Missense_Mutation SNP ENST00000409190.8 exon2 c.G1219T p.V407L exonic ENSG00000162520.15 . nonsynonymous SNV ENSG00000162520.15:ENST00000409190.8:exon2:c.G1219T:p.V407L 1p35.1 C3L-00011 . . . . . . . . . 15.20 D T D D D D L D N 0.512 D D D 0.368 0.276 0.679 1.034 T T D D D D 3.706 25.400 0.992 D D 0.311 3.839 0.302 3.726 1.000 0.000 0.547 0.547 0.464 . 4.160 3.150 3.781 1.026 0.549 1.000 0.999 0.989 246 Intermediate_filament,_rod_domain . . . SYNC 34 0 34 6 0.15 TRUE NA +ENSG00000163399.16 . BCM GRCh38.p13 chr1 116392900 116392900 + T T C Missense_Mutation SNP ENST00000295598.10 exon11 c.T1379C p.I460T exonic ENSG00000163399.16 . nonsynonymous SNV ENSG00000163399.16:ENST00000295598.10:exon11:c.T1379C:p.I460T 1p13.1 C3L-00011 . . . . . . . . . 13.20 T T B D D D N D N 0.757 D D D 0.613 0.456 0.903 2.862 T T D D D D 3.042 23.500 0.998 D D -0.011 2.474 0.161 3.000 1.000 0.707 0.725 0.725 0.714 . 5.280 5.280 5.146 1.138 0.665 1.000 0.946 0.963 726 . . . . ATP1A1 73 0 72 30 0.294117647058824 TRUE TRUE +ENSG00000169564.7 . BCM GRCh38.p13 chr2 70088015 70088015 + C C T Missense_Mutation SNP ENST00000303577.7 exon1 c.C272T p.T91I exonic ENSG00000169564.7 . nonsynonymous SNV ENSG00000169564.7:ENST00000303577.7:exon1:c.C272T:p.T91I 2p13.3 C3L-00011 1.667e-05 0 0 0 0 3.034e-05 0 0 rs200188120 5.19 T T B B U D M T D 0.176 T T T 0.086 . 0.379 2.499 T T T T D D 2.574 22.600 0.996 N . -0.061 2.302 0.000 2.360 1.000 0.442 0.522 0.522 0.562 . 4.160 3.290 6.126 1.022 0.545 1.000 1.000 0.985 430 . . . . PCBP1 172 0 202 24 0.106194690265487 TRUE NA +ENSG00000168955.4 . BCM GRCh38.p13 chr2 227370934 227370934 + C C T Missense_Mutation SNP ENST00000304568.4 exon2 c.G230A p.C77Y exonic ENSG00000168955.4 . nonsynonymous SNV ENSG00000168955.4:ENST00000304568.4:exon2:c.G230A:p.C77Y 2q36.3 C3L-00011 . . . . . . . . . 9.20 D D D P D D M T D 0.828 T T T 0.257 0.885 0.705 0.061 T T T T D T 3.237 24.000 0.992 D N 0.649 6.465 0.581 5.997 1.000 0.487 0.547 0.574 0.613 . 6.170 5.270 2.464 0.966 0.530 0.999 0.985 0.138 946 . . . . TM4SF20 201 0 152 49 0.243781094527363 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146636 10146636 + G G A Missense_Mutation SNP ENST00000256474.3 exon2 c.G463A p.V155M exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.G463A:p.V155M 3p25.3 C3L-00011 . . . . . . . . rs869025659 17.19 . D D D D D L D N 0.687 D D D 0.766 0.902 1.000 0.997 D D D D D D 6.706 36 0.990 D D 0.619 6.121 0.599 6.216 1.000 0.732 0.686 0.744 0.735 . 4.660 4.660 7.677 1.176 0.676 1.000 0.998 0.982 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56544010;OCCURENCE=7(kidney),1(skin) VHL 400 0 112 118 0.51304347826087 TRUE TRUE +ENSG00000197548.12 . BCM GRCh38.p13 chr3 11340660 11340660 + T T - Frame_Shift_Del DEL ENST00000354449.7 exon10 c.905delT p.G303Dfs*15 exonic ENSG00000197548.12 . frameshift deletion ENSG00000197548.12:ENST00000354449.7:exon10:c.905delT:p.G303Dfs*15 3p25.3 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATG7 132 0 44 40 0.476190476190476 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52403719 52403728 + CAGCCGGACT CAGCCGGACT - Frame_Shift_Del DEL ENST00000460680.6 exon13 c.1417_1426del p.S473Wfs*95 exonic ENSG00000163930.10 . frameshift deletion ENSG00000163930.10:ENST00000460680.6:exon13:c.1417_1426del:p.S473Wfs*95 3p21.1 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 199 0 67 67 0.5 TRUE TRUE +ENSG00000017260.19 . BCM GRCh38.p13 chr3 130953853 130953853 + G G T Missense_Mutation SNP ENST00000510168.5 exon9 c.G564T p.L188F exonic ENSG00000017260.19 . nonsynonymous SNV ENSG00000017260.19:ENST00000510168.5:exon9:c.G564T:p.L188F 3q22.1 C3L-00011 . . . . . . . . . 11.20 T T B B D D M D N 0.864 T T D 0.588 0.849 0.987 . T D D D D D 2.046 19.600 0.990 D N 0.425 4.501 0.467 4.870 0.999 0.737 0.725 0.733 0.714 . 5.420 5.420 1.834 1.176 0.676 1.000 1.000 1.000 622 . . . . ATP2C1 415 2 280 111 0.283887468030691 TRUE TRUE +ENSG00000017260.19 . BCM GRCh38.p13 chr3 130953881 130953881 + G G T Missense_Mutation SNP ENST00000510168.5 exon9 c.G592T p.V198L exonic ENSG00000017260.19 . nonsynonymous SNV ENSG00000017260.19:ENST00000510168.5:exon9:c.G592T:p.V198L 3q22.1 C3L-00011 . . . . . . . . . 4.20 T T B B N N L D N 0.067 T D D 0.195 0.333 0.562 . T T T T T T 1.843 18.050 0.933 D N -0.292 1.634 -0.128 1.968 0.942 0.737 0.725 0.733 0.714 . 5.420 2.310 1.395 1.176 0.676 1.000 0.999 1.000 622 . . . . ATP2C1 452 2 291 131 0.31042654028436 TRUE TRUE +ENSG00000114315.4 . BCM GRCh38.p13 chr3 194137908 194137908 + C C T Missense_Mutation SNP ENST00000232424.4 exon4 c.C518T p.P173L exonic ENSG00000114315.4 . nonsynonymous SNV ENSG00000114315.4:ENST00000232424.4:exon4:c.C518T:p.P173L 3q29 C3L-00011 . . . . . . . . . 4.20 T T B B N D N T N 0.201 T T D 0.034 0.331 0.369 0.825 D T T T T T 1.997 19.230 0.981 D N -0.264 1.704 -0.091 2.072 1.000 0.652 0.219 0.641 0.562 . 4.490 4.490 3.252 0.865 0.509 0.865 0.443 0.863 543 . . . ID=COSV99220375;OCCURENCE=1(skin) HES1 42 0 38 23 0.377049180327869 TRUE TRUE +ENSG00000170185.10 . BCM GRCh38.p13 chr4 143213990 143213990 + C C G Missense_Mutation SNP ENST00000307017.9 exon9 c.C2014G p.L672V exonic ENSG00000170185.10 . nonsynonymous SNV ENSG00000170185.10:ENST00000307017.9:exon9:c.C2014G:p.L672V 4q31.21 C3L-00011 . . . . . . . . . 0.20 T T B B N N N T N 0.051 T T T 0.017 0.470 0.118 0.123 T T T T T T 0.239 3.572 0.218 N N -1.057 0.346 -0.833 0.711 0.121 0.719 0.723 0.609 0.734 . 5.520 2.900 0.389 -0.132 -0.170 0.041 0.975 0.986 822 Ubiquitin-specific_peptidase_38;Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP38 163 0 35 56 0.615384615384615 TRUE TRUE +ENSG00000109756.9 . BCM GRCh38.p13 chr4 159343014 159343014 + C C T Missense_Mutation SNP ENST00000264431.8 exon15 c.C2471T p.T824M exonic ENSG00000109756.9 . nonsynonymous SNV ENSG00000109756.9:ENST00000264431.8:exon15:c.C2471T:p.T824M 4q32.1 C3L-00011 8.384e-06 0 0 0 0 1.514e-05 0 0 rs755809310 6.20 T T D P D D N T N 0.369 T T T 0.198 0.414 0.365 0.797 T T T T T D 3.009 23.400 0.973 D D 0.312 3.841 0.331 3.905 1.000 0.722 0.654 0.725 0.735 . 5.820 5.820 6.315 0.076 0.599 1.000 0.259 0.693 862 Ras_guanine-nucleotide_exchange_factors_catalytic_domain . . . RAPGEF2 163 0 55 44 0.444444444444444 TRUE NA +ENSG00000133302.13 . BCM GRCh38.p13 chr5 94663751 94663751 + T T A Missense_Mutation SNP ENST00000265140.10 exon11 c.T1211A p.V404D exonic ENSG00000133302.13 . nonsynonymous SNV ENSG00000133302.13:ENST00000265140.10:exon11:c.T1211A:p.V404D 5q15 C3L-00011 . . . . . . . . . 9.19 D D D P N D . T N 0.571 T T D 0.310 0.580 0.682 0.354 T T D D D T 3.543 24.800 0.985 D N 0.418 4.454 0.394 4.318 1.000 0.651 0.602 0.651 0.655 . 5.570 5.570 1.630 1.126 0.609 1.000 0.991 0.914 866 . . . . SLF1 76 0 30 15 0.333333333333333 TRUE TRUE +ENSG00000113580.15 . BCM GRCh38.p13 chr5 143399925 143399925 + G G T Missense_Mutation SNP ENST00000394464.7 exon2 c.C915A p.S305R exonic ENSG00000113580.15 . nonsynonymous SNV ENSG00000113580.15:ENST00000394464.7:exon2:c.C915A:p.S305R 5q31.3 C3L-00011 . . . . . . . . . 8.20 D D B B N D M T N 0.262 T T D 0.150 0.880 0.635 0.141 T T T T D D 2.578 22.600 0.991 D N -0.040 2.373 0.021 2.432 1.000 0.628 0.672 0.602 0.639 . 5.650 2.460 1.175 1.176 0.676 0.996 0.984 0.963 922 . . . . NR3C1 529 0 498 126 0.201923076923077 NA TRUE +ENSG00000124568.12 . BCM GRCh38.p13 chr6 25819549 25819549 + G G T Missense_Mutation SNP ENST00000244527.10 exon5 c.C491A p.P164H exonic ENSG00000124568.12 . nonsynonymous SNV ENSG00000124568.12:ENST00000244527.10:exon5:c.C491A:p.P164H 6p22.2 C3L-00011 . . . . . . . . . 15.20 D D D D D D H T D 0.658 T T D 0.397 0.703 0.750 0.532 T D D D D D 3.828 26.000 0.994 D N 0.403 4.364 0.240 3.384 0.020 0.487 0.574 0.547 0.564 . 4.860 3.990 5.402 1.176 0.676 0.999 0.947 0.964 587 Major_facilitator_superfamily_domain . . . SLC17A1 115 0 65 34 0.343434343434343 TRUE TRUE +ENSG00000095981.10 . BCM GRCh38.p13 chr6 39317896 39317896 + C C T Missense_Mutation SNP ENST00000373229.9 exon3 c.G385A p.A129T exonic ENSG00000095981.10 . nonsynonymous SNV ENSG00000095981.10:ENST00000373229.9:exon3:c.G385A:p.A129T 6p21.2 C3L-00011 . . . . . . . . . 16.20 D D D D D D M T D 0.956 T T D 0.455 0.673 0.510 0.749 T D D D D D 4.117 27.900 0.999 D D 0.867 10.244 0.841 11.458 1.000 0.497 0.590 0.578 0.563 . 5.650 5.650 7.139 1.026 0.599 1.000 0.994 0.997 917 Potassium_channel_domain . . . KCNK16 105 0 69 41 0.372727272727273 TRUE TRUE +ENSG00000213204.8 . BCM GRCh38.p13 chr6 87418396 87418396 + G G T Missense_Mutation SNP ENST00000369562.9 exon7 c.G820T p.V274F exonic ENSG00000213204.8;ENSG00000272514.6 . nonsynonymous SNV ENSG00000272514.6:ENST00000369562.9:exon7:c.G820T:p.V274F,ENSG00000213204.8:ENST00000507897.5:exon7:c.G820T:p.V274F 6q15 C3L-00011 . . . . . . . . . 1.18 T T B B N N . T N 0.197 T T T 0.035 0.459 0.197 0.236 . T T T T T 0.820 9.593 0.967 D N -0.940 0.472 -0.922 0.591 0.003 0.554 0.588 0.574 0.586 . 5.160 -6.980 0.167 -0.526 -0.241 0.882 0.942 0.976 819 . . . . AL049697.1 161 1 145 11 0.0705128205128205 TRUE NA +ENSG00000049618.24 . BCM GRCh38.p13 chr6 157148671 157148671 + T T C Missense_Mutation SNP ENST00000636930.2 exon8 c.T2809C p.Y937H exonic ENSG00000049618.24 . nonsynonymous SNV ENSG00000049618.24:ENST00000636930.2:exon8:c.T2809C:p.Y937H 6q25.3 C3L-00011 . . . . . . . . . 14.20 D T D D D D M T D 0.733 T T D 0.337 0.194 0.552 1.145 T T D D D D 4.257 29.200 0.999 D D 0.780 8.402 0.799 10.109 1.000 0.731 0.702 0.725 0.649 . 6.170 6.170 7.222 1.138 0.665 1.000 1.000 1.000 909 . . . . ARID1B 104 0 101 45 0.308219178082192 TRUE TRUE +ENSG00000189056.14 . BCM GRCh38.p13 chr7 103500900 103500900 + G G T Missense_Mutation SNP ENST00000428762.6 exon53 c.C8512A p.Q2838K exonic ENSG00000189056.14 . nonsynonymous SNV ENSG00000189056.14:ENST00000428762.6:exon53:c.C8512A:p.Q2838K 7q22.1 C3L-00011 . . . . . . . . . 14.20 D D D D D D M T N 0.903 T T D 0.475 0.624 0.767 0.429 T T D D D D 4.051 27.400 0.996 D D 0.844 9.699 0.823 10.840 1.000 0.625 0.574 0.574 0.595 . 5.170 5.170 9.602 1.176 0.676 1.000 1.000 1.000 825 . . . . RELN 208 0 149 54 0.266009852216749 TRUE TRUE +ENSG00000223443.2 . BCM GRCh38.p13 chr8 12138109 12138109 + C C T Missense_Mutation SNP ENST00000333796.3 exon1 c.G652A p.D218N exonic ENSG00000223443.2 . nonsynonymous SNV ENSG00000223443.2:ENST00000333796.3:exon1:c.G652A:p.D218N 8p23.1 C3L-00011 . . . . . . . . . 8.20 D D D D N N M T D 0.162 T T T 0.081 0.721 0.506 1.145 T T T T D D 1.803 17.750 0.998 N N 0.153 3.102 -0.116 2.001 0.000 0.516 0.610 0.547 0.564 . 0.935 0.935 0.536 0.400 0.274 0.010 0.057 0.023 . Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP17L2 242 0 87 68 0.438709677419355 NA TRUE +ENSG00000187735.14 . BCM GRCh38.p13 chr8 54022083 54022083 + T T C Missense_Mutation SNP ENST00000521604.7 exon1 c.A43G p.M15V exonic ENSG00000187735.14 . nonsynonymous SNV ENSG00000187735.14:ENST00000521604.7:exon1:c.A43G:p.M15V 8q11.23 C3L-00011 . . . . . . . . . 9.19 D D P B U D M . D 0.568 T T D 0.157 0.598 0.464 1.201 D T T T D D 3.462 24.600 0.989 N N 0.040 2.658 0.157 2.981 1.000 0.733 0.601 0.601 0.622 . 4.850 4.850 3.713 1.138 0.665 1.000 0.999 0.993 912 Transcription_elongation_factor,_TFIIS/CRSP70,_N-terminal,_sub-type;Transcription_factor_IIS,_N-terminal . . . TCEA1 240 0 170 87 0.33852140077821 TRUE NA +ENSG00000104313.20 . BCM GRCh38.p13 chr8 71215704 71215704 + - NA C Frame_Shift_Ins NA ENST00000340726.8 exon15 c.1384dupG p.E462Gfs*11 exonic ENSG00000104313.20 . frameshift insertion ENSG00000104313.20:ENST00000340726.8:exon15:c.1384dupG:p.E462Gfs*11 8q13.3 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EYA1 NA NA NA NA NA NA NA +ENSG00000178445.10 . BCM GRCh38.p13 chr9 6604618 6604618 + A A G Missense_Mutation SNP ENST00000321612.8 exon7 c.T1028C p.M343T exonic ENSG00000178445.10 . nonsynonymous SNV ENSG00000178445.10:ENST00000321612.8:exon7:c.T1028C:p.M343T 9p24.1 C3L-00011 . . . . . . . . . 14.20 T T B B D D N D D 0.855 D D D 0.722 0.428 0.979 0.193 T D D D D D 2.387 22.000 0.950 D D 0.162 3.139 0.319 3.830 1.000 0.707 0.686 0.725 0.655 . 5.250 5.250 8.687 1.312 0.691 1.000 0.999 0.993 803 . . . . GLDC 149 0 117 50 0.29940119760479 TRUE TRUE +ENSG00000026025.16 . BCM GRCh38.p13 chr10 17229885 17229885 + C C T Missense_Mutation SNP ENST00000224237.9 exon1 c.C463T p.R155W exonic ENSG00000026025.16 . nonsynonymous SNV ENSG00000026025.16:ENST00000224237.9:exon1:c.C463T:p.R155W 10p13 C3L-00011 2.373e-05 0 0 0 0 4.197e-05 0 0 rs749293841 20.20 D D D D D D H D D 0.711 D D D 0.818 0.588 0.887 1.308 D D D D D D 4.295 29.500 0.999 D D 0.664 6.639 0.544 5.584 1.000 0.726 0.522 0.594 0.562 . 5.140 4.220 1.430 0.924 0.573 1.000 1.000 0.998 775 Intermediate_filament,_rod_domain . . . VIM 173 0 177 10 0.053475935828877 TRUE NA +ENSG00000099250.18 . BCM GRCh38.p13 chr10 33254176 33254176 + G G A Missense_Mutation SNP ENST00000265371.8 exon7 c.C833T p.A278V exonic ENSG00000099250.18 . nonsynonymous SNV ENSG00000099250.18:ENST00000265371.8:exon7:c.C833T:p.A278V 10p11.22 C3L-00011 . . . . . . . . . 14.20 D D P B D D L D N 0.393 D D D 0.529 0.439 0.457 0.259 T T D D D D 3.627 25.100 0.997 D D 0.443 4.624 0.542 5.569 1.000 0.731 0.574 0.602 0.649 . 5.280 5.280 9.878 1.176 0.676 1.000 0.999 0.983 709 Coagulation_factor_5/8_C-terminal_domain . . . NRP1 121 0 105 6 0.0540540540540541 TRUE TRUE +ENSG00000156395.13 . BCM GRCh38.p13 chr10 104641808 104641808 + G G A Missense_Mutation SNP ENST00000369701.8 exon1 c.G481A p.A161T exonic ENSG00000156395.13 . nonsynonymous SNV ENSG00000156395.13:ENST00000369701.8:exon1:c.G481A:p.A161T 10q25.1 C3L-00011 0 0 0 0 0 0 0 0 rs756722144 1.20 T T B B N N N T N 0.034 T T T 0.036 0.162 0.373 0.329 T T T T T T 1.210 13.720 0.900 D N -0.798 0.657 -0.782 0.783 1.000 0.598 0.563 0.608 0.639 . 3.980 2.040 1.084 -0.110 -0.111 0.337 0.038 0.154 147 . . . . SORCS3 128 0 99 26 0.208 TRUE NA +ENSG00000171811.14 . BCM GRCh38.p13 chr10 132851205 132851205 + G G C Missense_Mutation SNP ENST00000368586.10 exon40 c.C5675G p.A1892G exonic ENSG00000171811.14 . nonsynonymous SNV ENSG00000171811.14:ENST00000368586.10:exon40:c.C5675G:p.A1892G 10q26.3 C3L-00011 . . . . . . . . . 1.17 T T . . N N . T N 0.126 T T T 0.021 . 0.030 0.110 T T T T D T 0.607 7.577 0.991 N N -0.554 1.073 -0.687 0.918 0.000 0.422 0.574 0.600 0.563 . 4.530 2.570 0.507 0.186 -0.759 0.000 0.003 0.001 994 . . . . CFAP46 285 0 199 96 0.325423728813559 TRUE TRUE +ENSG00000248746.6 . BCM GRCh38.p13 chr11 66555139 66555139 + T T A Missense_Mutation SNP ENST00000513398.2 exon6 c.T567A p.D189E exonic ENSG00000248746.6 . nonsynonymous SNV ENSG00000248746.6:ENST00000513398.2:exon6:c.T567A:p.D189E 11q13.2 C3L-00011 . . . . . . . . . 6.10 . D P P . . . . . 0.951 . . . . . 0.563 . T D D D . D 3.202 23.900 0.996 D N . . . . 0.001 0.253 0.097 0.296 0.059 . 4.550 2.170 0.115 -0.319 -0.123 0.984 0.997 0.993 59 Calponin_homology_domain . . . ACTN3 256 1 200 104 0.342105263157895 TRUE TRUE +ENSG00000178202.13 . BCM GRCh38.p13 chr11 108486235 108486235 + A A C Missense_Mutation SNP ENST00000323468.10 exon3 c.T606G p.H202Q exonic ENSG00000178202.13 . nonsynonymous SNV ENSG00000178202.13:ENST00000323468.10:exon3:c.T606G:p.H202Q 11q22.3 C3L-00011 . . . . . . . . . 1.19 T T B B N D . T N 0.109 T T T 0.010 0.286 0.055 0.183 T T T T T T -0.208 0.491 0.563 N N -1.025 0.378 -0.898 0.623 0.008 0.732 0.725 0.710 0.728 . 4.680 1.690 0.144 -0.575 -0.885 0.000 0.953 0.658 740 . . . . POGLUT3 249 0 134 79 0.370892018779343 TRUE TRUE +ENSG00000111790.14 . BCM GRCh38.p13 chr12 26956626 26956626 + C C G Missense_Mutation SNP ENST00000229395.8 exon3 c.C219G p.N73K exonic ENSG00000111790.14 . nonsynonymous SNV ENSG00000111790.14:ENST00000229395.8:exon3:c.C219G:p.N73K 12p11.23 C3L-00011 . . . . . . . . . 15.19 D D D D D D M . D 0.906 T T D 0.388 0.671 0.596 0.869 D D T T D D 2.878 23.200 0.998 D D 0.537 5.336 0.451 4.738 0.999 0.706 0.725 0.710 0.714 . 4.470 3.570 2.393 0.119 -0.257 1.000 1.000 0.996 844 . . . . FGFR1OP2 161 0 107 45 0.296052631578947 TRUE TRUE +ENSG00000135144.7 . BCM GRCh38.p13 chr12 113094096 113094096 + T T G Missense_Mutation SNP ENST00000257600.3 exon5 c.T1224G p.D408E exonic ENSG00000135144.7 . nonsynonymous SNV ENSG00000135144.7:ENST00000257600.3:exon5:c.T1224G:p.D408E 12q24.13 C3L-00011 . . . . . . . . . 4.20 T T B B N D L T N 0.258 T T T 0.057 0.317 0.588 . T T T T T D 1.944 18.830 0.776 D D -0.816 0.632 -0.748 0.831 1.000 0.706 0.710 0.645 0.542 . 3.740 0.125 0.599 -0.470 -0.716 1.000 0.979 0.595 657 . . . . DTX1 107 3 93 10 0.0970873786407767 TRUE NA +ENSG00000183495.14 . BCM GRCh38.p13 chr12 132032017 132032017 + G G A Missense_Mutation SNP ENST00000389561.7 exon30 c.G5819A p.R1940H exonic ENSG00000183495.14 . nonsynonymous SNV ENSG00000183495.14:ENST00000389561.7:exon30:c.G5819A:p.R1940H 12q24.33 C3L-00011 1.648e-05 0 0 0 0 1.499e-05 0 6.057e-05 rs773564187 9.18 D T D D D D . T N 0.571 T T T 0.429 . 0.479 0.560 T . T D T D 3.887 26.300 0.982 D D 0.508 5.097 0.586 6.056 1.000 0.707 0.725 0.725 0.714 . 5.900 5.900 7.901 1.172 0.676 1.000 0.358 0.571 964 . . . . EP400 154 0 122 78 0.39 TRUE NA +ENSG00000179364.13 . BCM GRCh38.p13 chr14 105381041 105381041 + A A G Missense_Mutation SNP ENST00000325438.12 exon12 c.A1210G p.R404G exonic ENSG00000179364.13 . nonsynonymous SNV ENSG00000179364.13:ENST00000325438.12:exon12:c.A1210G:p.R404G 14q32.33 C3L-00011 . . . . . . . . . 5.20 T T B B D D L T D 0.242 T T T 0.084 0.276 0.068 . T T T T T D 2.661 22.800 0.979 D N -0.230 1.794 -0.137 1.946 0.989 0.707 0.634 0.571 0.714 . 4.970 4.970 1.407 1.183 0.691 1.000 0.922 0.350 976 . . . ID=COSV57657528;OCCURENCE=1(large_intestine) PACS2 110 0 51 54 0.514285714285714 TRUE TRUE +ENSG00000047346.12 . BCM GRCh38.p13 chr15 52600235 52600235 + A A C Missense_Mutation SNP ENST00000261844.11 exon9 c.T2541G p.S847R exonic ENSG00000047346.12 . nonsynonymous SNV ENSG00000047346.12:ENST00000261844.11:exon9:c.T2541G:p.S847R 15q21.3 C3L-00011 . . . . . . . . . 3.19 T T B B N D M T N 0.551 T T . 0.277 0.152 0.256 0.103 T T T T T T 1.913 18.590 0.971 D N -0.336 1.527 -0.161 1.882 0.717 0.707 0.725 0.659 0.714 . 5.130 4.010 1.212 -0.036 0.750 1.000 0.995 0.999 465 . . . . FAM214A 97 0 23 12 0.342857142857143 TRUE TRUE +ENSG00000198535.5 . BCM GRCh38.p13 chr15 62068402 62068402 + C C A Nonsense_Mutation SNP ENST00000355522.5 exon2 c.C789A p.Y263X exonic ENSG00000198535.5 . stopgain ENSG00000198535.5:ENST00000355522.5:exon2:c.C789A:p.Y263X 15q22.2 C3L-00011 . . . . . . . . . 5.6 . . . . D D . . . 0.052 . . . . . . . . . D D . . 8.110 41 0.986 D N 0.394 4.305 0.105 2.756 1.000 0.437 0.607 0.607 0.562 . 3.380 3.380 6.277 0.064 0.442 1.000 0.648 0.781 868 . . . . C2CD4A 30 0 73 4 0.051948051948052 TRUE NA +ENSG00000140474.14 . BCM GRCh38.p13 chr15 74840545 74840545 + T T G Missense_Mutation SNP ENST00000440863.7 exon5 c.A566C p.Q189P exonic ENSG00000140474.14 . nonsynonymous SNV ENSG00000140474.14:ENST00000440863.7:exon5:c.A566C:p.Q189P 15q24.1 C3L-00011 . . . . . . . . . 8.20 D T B B D D N T N 0.604 T T D 0.319 0.431 0.708 0.345 T T T T D D 2.998 23.400 0.975 D D -0.340 1.517 -0.150 1.910 1.000 0.732 0.744 0.723 0.636 . 5.240 4.110 5.641 1.134 -0.161 1.000 0.979 0.520 277 Protein_kinase_domain . . . ULK3 109 1 139 10 0.0671140939597315 TRUE NA +ENSG00000059122.16 . BCM GRCh38.p13 chr16 2933971 2933971 + G G T Missense_Mutation SNP ENST00000253928.13 exon6 c.G1505T p.G502V exonic ENSG00000059122.16 . nonsynonymous SNV ENSG00000059122.16:ENST00000253928.13:exon6:c.G1505T:p.G502V 16p13.3 C3L-00011 . . . . . . . . . 1.18 T D P B . N L . N 0.458 T T T 0.077 0.192 0.048 . T T T T T T 1.268 14.150 0.982 N N -0.746 0.737 -0.903 0.616 0.014 0.707 0.725 0.723 0.714 . 3.830 -1.280 -0.094 -0.120 -0.110 0.017 0.044 0.013 867 . . . . FLYWCH1 63 1 49 25 0.337837837837838 TRUE TRUE +ENSG00000205730.6 . BCM GRCh38.p13 chr16 19116037 19116037 + C C T Missense_Mutation SNP ENST00000381440.4 exon1 c.C1576T p.R526C exonic ENSG00000205730.6 . nonsynonymous SNV ENSG00000205730.6:ENST00000381440.4:exon1:c.C1576T:p.R526C 16p12.3 C3L-00011 . . . . . . . . . 6.20 D D D P U D L T N 0.289 T T T 0.142 0.258 0.297 . T T T T D T 4.274 29.300 0.999 D N 0.473 4.835 0.491 5.081 1.000 0.672 0.702 0.654 0.639 . 5.180 4.190 3.550 1.026 0.599 0.997 0.867 0.996 900 . . . . ITPRIPL2 35 0 22 10 0.3125 TRUE TRUE +ENSG00000077235.18 . BCM GRCh38.p13 chr16 27505991 27505991 + A A G Missense_Mutation SNP ENST00000356183.9 exon10 c.T1678C p.S560P exonic ENSG00000077235.18 . nonsynonymous SNV ENSG00000077235.18:ENST00000356183.9:exon10:c.T1678C:p.S560P 16p12.1 C3L-00011 . . . . . . . . . 3.20 D T P B N N M T N 0.129 T T T 0.112 0.132 0.134 1.482 T T T T T T 1.752 17.390 0.977 D N -0.390 1.404 -0.437 1.307 0.999 0.707 0.725 0.702 0.714 . 5.500 3.210 1.242 -0.093 0.756 0.877 0.004 0.028 558 . . . . GTF3C1 167 0 117 50 0.29940119760479 TRUE TRUE +ENSG00000140798.16 . BCM GRCh38.p13 chr16 48083922 48083922 + A A G Missense_Mutation SNP ENST00000311303.7 exon28 c.T3980C p.M1327T exonic ENSG00000140798.16 . nonsynonymous SNV ENSG00000140798.16:ENST00000311303.7:exon28:c.T3980C:p.M1327T 16q12.1 C3L-00011 . . . . . . . . . 16.20 D D P P D D H D D 0.844 D D D 0.918 0.873 0.907 0.547 T T D D D D 3.379 24.300 0.994 D D 0.742 7.745 0.698 7.721 1.000 0.487 0.574 0.547 0.564 . 5.440 5.440 9.181 1.213 0.681 1.000 0.996 0.695 567 ABC_transporter-like;AAA+_ATPase_domain . . . ABCC12 185 0 183 56 0.234309623430962 TRUE TRUE +ENSG00000135686.13 . BCM GRCh38.p13 chr16 84661807 84661807 + G G T Nonsense_Mutation SNP ENST00000564996.6 exon5 c.G1525T p.E509X exonic ENSG00000135686.13 . stopgain ENSG00000135686.13:ENST00000564996.6:exon5:c.G1525T:p.E509X 16q24.1 C3L-00011 . . . . . . . . . 5.6 . . . . D D . . . 0.078 . . . . . . . . . D D . . 9.772 52 0.997 D N 1.231 26.882 1.092 26.204 1.000 0.834 0.698 0.000 0.662 . 5.490 5.490 9.562 1.176 0.676 1.000 1.000 0.988 964 . . . . KLHL36 96 0 68 51 0.428571428571429 TRUE TRUE +ENSG00000225614.4 . BCM GRCh38.p13 chr16 88432031 88432031 + G G A Missense_Mutation SNP ENST00000565624.3 exon3 c.G4561A p.G1521R exonic ENSG00000225614.4 . nonsynonymous SNV ENSG00000225614.4:ENST00000565624.3:exon3:c.G4561A:p.G1521R 16q24.2 C3L-00011 . . . . . . . . rs1005974582 2.16 T T . . . N . T N 0.080 T T D 0.099 0.150 0.297 . T T T T T T 1.658 16.740 0.773 D N -0.173 1.954 -0.239 1.695 1.000 0.646 0.588 0.615 0.700 . 4.690 3.700 2.369 0.981 0.676 1.000 0.009 0.002 . . . . . ZNF469 695 1 726 226 0.237394957983193 TRUE NA +ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673781 7673781 + C C A Missense_Mutation SNP ENST00000269305.8 exon8 c.G839T p.R280I exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G839T:p.R280I 17p13.1 C3L-00011 . . . . . . . . rs121912660 19.20 D D D D D D M D D 0.935 D D D 0.942 0.878 0.984 0.491 T D D D D D 4.358 30 0.987 D D 0.918 11.529 0.845 11.609 1.000 0.722 0.702 0.725 0.735 . 5.130 5.130 7.905 1.022 0.596 0.998 0.860 0.998 432 p53,_DNA-binding_domain . . ID=COSV52687987;OCCURENCE=9(breast),1(large_intestine),1(central_nervous_system),3(ovary),2(haematopoietic_and_lymphoid_tissue),1(soft_tissue),2(prostate),14(lung),5(upper_aerodigestive_tract),1(endometrium) TP53 637 0 253 222 0.467368421052632 TRUE TRUE +ENSG00000108797.12 . BCM GRCh38.p13 chr17 42684107 42684107 + C C T Missense_Mutation SNP ENST00000264638.9 exon3 c.C241T p.R81W exonic ENSG00000108797.12 . nonsynonymous SNV ENSG00000108797.12:ENST00000264638.9:exon3:c.C241T:p.R81W 17q21.2 C3L-00011 . . . . . . . . . 16.20 D D D P N D L D D 0.434 D D D 0.687 0.599 0.887 2.167 T D D D D D 4.318 29.700 0.999 D D 0.267 3.614 0.238 3.375 1.000 0.767 0.686 0.851 0.555 . 5.420 1.970 1.774 1.026 0.599 0.998 1.000 0.999 275 Coagulation_factor_5/8_C-terminal_domain . . . CNTNAP1 119 1 102 35 0.255474452554745 TRUE TRUE +ENSG00000121104.8 . BCM GRCh38.p13 chr17 49717545 49717545 + G G A Missense_Mutation SNP ENST00000240364.7 exon6 c.C878T p.A293V exonic ENSG00000121104.8 . nonsynonymous SNV ENSG00000121104.8:ENST00000240364.7:exon6:c.C878T:p.A293V 17q21.33 C3L-00011 5.091e-05 0 0 0 0 9.324e-05 0 0 rs781624561 0.19 T T B B N N L . N 0.057 T T T 0.021 . 0.030 0.446 T T T T T T 0.230 3.470 0.897 N N -1.347 0.141 -1.406 0.148 1.000 0.707 0.725 0.725 0.636 . 5.200 -5.180 -0.708 -0.531 -0.273 0.000 0.000 0.059 780 . . . . FAM117A 154 0 126 58 0.315217391304348 TRUE NA +ENSG00000183691.6 . BCM GRCh38.p13 chr17 56594821 56594821 + C C T Missense_Mutation SNP ENST00000332822.6 exon1 c.C598T p.L200F exonic ENSG00000183691.6 . nonsynonymous SNV ENSG00000183691.6:ENST00000332822.6:exon1:c.C598T:p.L200F 17q22 C3L-00011 . . . . . . . . . 14.20 T T D D N D L D N 0.170 D D D 0.587 0.558 0.880 1.036 D D D D D D 3.287 24.100 0.979 D N 0.438 4.585 0.440 4.656 1.000 0.598 0.596 0.504 0.568 . 4.850 4.850 0.545 1.026 0.599 0.997 1.000 0.996 36 . . . . NOG 103 0 66 25 0.274725274725275 TRUE TRUE +ENSG00000108370.17 . BCM GRCh38.p13 chr17 65204188 65204188 + C C T Missense_Mutation SNP ENST00000262406.10 exon15 c.C1090T p.R364C exonic ENSG00000108370.17 . nonsynonymous SNV ENSG00000108370.17:ENST00000262406.10:exon15:c.C1090T:p.R364C 17q24.1 C3L-00011 1.66e-05 0 0 0 0 3.004e-05 0 0 rs769963081 11.20 T T D D D D L T N 0.864 T T D 0.275 . 0.672 0.809 D T D T D D 3.504 24.700 0.979 D D 0.577 5.701 0.556 5.708 0.952 0.549 0.588 0.608 0.616 . 5.930 3.860 4.870 1.026 0.599 1.000 0.979 0.874 410 RGS_domain . . ID=COSV99287775;OCCURENCE=1(stomach) RGS9 422 0 280 136 0.326923076923077 TRUE NA +ENSG00000141664.10 . BCM GRCh38.p13 chr18 62523707 62523707 + C C T Nonsense_Mutation SNP ENST00000269499.10 exon1 c.C283T p.Q95X exonic ENSG00000141664.10 . stopgain ENSG00000141664.10:ENST00000269499.10:exon1:c.C283T:p.Q95X 18q21.33 C3L-00011 . . . . . . . . . 3.5 . . . . . A . . . 0.063 . . . . . . . . . D D . . 6.727 36 0.996 N N 0.440 4.602 0.168 3.032 1.000 0.437 0.484 0.607 0.562 . 2.820 2.820 0.569 0.849 0.418 0.997 0.983 0.805 988 . . . . ZCCHC2 98 0 146 13 0.0817610062893082 TRUE TRUE +ENSG00000250067.12 . BCM GRCh38.p13 chr19 19537375 19537375 + G G T Missense_Mutation SNP ENST00000514277.6 exon7 c.G751T p.V251L exonic ENSG00000250067.12 . nonsynonymous SNV ENSG00000250067.12:ENST00000514277.6:exon7:c.G751T:p.V251L 19p13.11 C3L-00011 . . . . . . . . . 9.20 D D P P N D M T N 0.522 T T D 0.227 0.733 0.136 0.476 T T T T D D 3.965 26.700 0.986 D D 0.169 3.168 0.150 2.947 1.000 0.742 0.644 0.775 0.621 . 4.040 4.040 2.873 1.007 0.526 1.000 0.998 0.907 432 YjeF_N-terminal_domain . . . YJEFN3 112 0 111 48 0.30188679245283 TRUE NA +ENSG00000126266.3 . BCM GRCh38.p13 chr19 35351654 35351654 + C C T Missense_Mutation SNP ENST00000246553.3 exon1 c.C103T p.R35W exonic ENSG00000126266.3 . nonsynonymous SNV ENSG00000126266.3:ENST00000246553.3:exon1:c.C103T:p.R35W 19q13.12 C3L-00011 . . . . . . . . . 7.20 T D D P N N M T D 0.115 T T D 0.297 0.485 0.914 1.477 T D T T D T 2.934 23.300 0.998 N N 0.014 2.562 -0.163 1.877 0.471 0.421 0.551 0.578 0.563 . 4.450 3.380 -0.274 0.057 0.517 0.001 0.002 0.050 917 GPCR,_rhodopsin-like,_7TM . . . FFAR1 159 1 137 42 0.23463687150838 TRUE NA +ENSG00000105329.10 . BCM GRCh38.p13 chr19 41352813 41352813 + G G C Missense_Mutation SNP ENST00000221930.6 exon1 c.C232G p.L78V exonic ENSG00000105329.10 . nonsynonymous SNV ENSG00000105329.10:ENST00000221930.6:exon1:c.C232G:p.L78V 19q13.2 C3L-00011 . . . . . . . . . 5.16 T T . . D D . T N 0.081 T T D 0.243 0.700 0.714 0.735 T . T T D T 2.236 21.100 0.979 D N -0.137 2.059 -0.147 1.918 1.000 0.726 0.522 0.594 0.562 . 3.800 3.800 -0.076 1.172 0.672 0.004 1.000 0.998 830 . . . . TGFB1 102 0 76 29 0.276190476190476 TRUE TRUE +ENSG00000063169.10 . BCM GRCh38.p13 chr19 47679825 47679825 + A A - Frame_Shift_Del DEL ENST00000396720.7 exon6 c.655delA p.N219Mfs*55 exonic ENSG00000063169.10 . frameshift deletion ENSG00000063169.10:ENST00000396720.7:exon6:c.655delA:p.N219Mfs*55 19q13.33 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BICRA 30 0 28 13 0.317073170731707 TRUE TRUE +ENSG00000126460.11 . BCM GRCh38.p13 chr19 49583682 49583682 + G G T Nonsense_Mutation SNP ENST00000246794.10 exon3 c.G226T p.E76X exonic ENSG00000126460.11 . stopgain ENSG00000126460.11:ENST00000246794.10:exon3:c.G226T:p.E76X 19q13.33 C3L-00011 . . . . . . . . . 5.6 . . . . D A . . . 0.237 . . . . . . . . . D D . . 8.003 40 0.998 D N 1.222 25.884 1.091 26.100 1.000 0.615 0.588 0.659 0.568 . 5.870 5.870 7.408 1.171 0.671 1.000 1.000 0.981 783 Gamma-carboxyglutamic_acid-rich_(GLA)_domain . . . PRRG2 138 1 132 14 0.0958904109589041 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53211878 53211878 + C C - Frame_Shift_Del DEL ENST00000375401.8 exon9 c.1151delG p.G384Afs*46 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon9:c.1151delG:p.G384Afs*46 Xp11.22 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 464 0 173 189 0.522099447513812 TRUE TRUE +ENSG00000188153.14 . BCM GRCh38.p13 chrX 108696355 108696355 + C C T Nonsense_Mutation SNP ENST00000361603.7 exon51 c.C5035T p.Q1679X exonic ENSG00000188153.14 . stopgain ENSG00000188153.14:ENST00000361603.7:exon51:c.C5035T:p.Q1679X Xq22.3 C3L-00011 . . . . . . . . . 5.5 . . . . D D . . . 0.466 . . . . . . . . . D D . . 7.322 37 0.997 D . . . . . 1.000 . . . . . 5.830 5.830 3.329 1.026 0.549 1.000 1.000 0.999 212 Collagen_IV,_non-collagenous . . ID=COSV100086098;OCCURENCE=1(urinary_tract) COL4A5 295 1 106 86 0.447916666666667 TRUE TRUE +ENSG00000066279.18 . BCM GRCh38.p13 chr1 197117788 197117788 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000066279.18 ENST00000367409.9:exon17:c.4065+1G>T . . 1q31.3 C3L-00011 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.453 34 0.986 D . 1.059 15.879 0.890 13.338 1.000 0.164 0.157 0.126 0.118 0.967 5.720 5.720 5.995 1.026 0.599 1.000 0.979 0.928 172 . . . . ASPM 126 0 46 3 0.0612244897959184 TRUE NA +ENSG00000162413.16 . BCM GRCh38.p13 chr1 6602473 6602473 + C C T Silent SNP ENST00000377658.8 exon1 c.G345A p.L115L exonic ENSG00000162413.16 . synonymous SNV ENSG00000162413.16:ENST00000377658.8:exon1:c.G345A:p.L115L 1p36.31 C3L-00011 0 0 0 0 0 0 0 0 rs772194747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL21 182 0 214 15 0.0655021834061135 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178564520 178564520 + A A G Silent SNP ENST00000591111.5 exon276 c.T76689C p.G25563G exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon276:c.T76689C:p.G25563G 2q31.2 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 240 0 150 69 0.315068493150685 TRUE TRUE +ENSG00000188042.8 . BCM GRCh38.p13 chr2 234496500 234496500 + C C T Silent SNP ENST00000390645.2 exon1 c.G87A p.V29V exonic ENSG00000188042.8 . synonymous SNV ENSG00000188042.8:ENST00000390645.2:exon1:c.G87A:p.V29V 2q37.1 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARL4C 125 1 129 9 0.0652173913043478 TRUE NA +ENSG00000164188.8 . BCM GRCh38.p13 chr5 36261950 36261950 + T T G Silent SNP ENST00000296604.7 exon7 c.A573C p.A191A exonic ENSG00000164188.8 . synonymous SNV ENSG00000164188.8:ENST00000296604.7:exon7:c.A573C:p.A191A 5p13.2 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RANBP3L 120 0 37 16 0.30188679245283 TRUE TRUE +ENSG00000105339.10 . BCM GRCh38.p13 chr8 141168207 141168207 + C C T Silent SNP ENST00000262585.6 exon13 c.C1717T p.L573L exonic ENSG00000105339.10 . synonymous SNV ENSG00000105339.10:ENST00000262585.6:exon13:c.C1717T:p.L573L 8q24.3 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DENND3 370 1 238 137 0.365333333333333 TRUE TRUE +ENSG00000177054.14 . BCM GRCh38.p13 chr11 19172794 19172794 + G G A Silent SNP ENST00000446113.7 exon16 c.G1704A p.T568T exonic ENSG00000177054.14 . synonymous SNV ENSG00000177054.14:ENST00000446113.7:exon16:c.G1704A:p.T568T 11p15.1 C3L-00011 . . . . . . . . rs563409613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZDHHC13 121 0 94 48 0.338028169014085 TRUE NA +ENSG00000196248.5 . BCM GRCh38.p13 chr11 123977011 123977011 + G G A Silent SNP ENST00000531945.1 exon1 c.C681T p.L227L exonic ENSG00000196248.5 . synonymous SNV ENSG00000196248.5:ENST00000531945.1:exon1:c.C681T:p.L227L 11q24.1 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV73342751;OCCURENCE=1(urinary_tract),1(skin) OR10S1 184 0 127 55 0.302197802197802 TRUE TRUE +ENSG00000140553.18 . BCM GRCh38.p13 chr15 90946860 90946860 + G G A Silent SNP ENST00000418476.2 exon10 c.G1446A p.L482L exonic ENSG00000140553.18 . synonymous SNV ENSG00000140553.18:ENST00000418476.2:exon10:c.G1446A:p.L482L 15q26.1 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC45A 115 0 91 39 0.3 TRUE TRUE +ENSG00000177508.12 . BCM GRCh38.p13 chr16 54285804 54285804 + G G A Silent SNP ENST00000329734.4 exon1 c.C247T p.L83L exonic ENSG00000177508.12 . synonymous SNV ENSG00000177508.12:ENST00000329734.4:exon1:c.C247T:p.L83L 16q12.2 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRX3 43 0 73 13 0.151162790697674 TRUE NA +ENSG00000141753.7 . BCM GRCh38.p13 chr17 40443942 40443942 + G G A Silent SNP ENST00000269593.5 exon1 c.G207A p.V69V exonic ENSG00000141753.7 . synonymous SNV ENSG00000141753.7:ENST00000269593.5:exon1:c.G207A:p.V69V 17q21.2 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFBP4 91 0 92 34 0.26984126984127 TRUE TRUE +ENSG00000172216.6 . BCM GRCh38.p13 chr20 50191990 50191990 + G G A Silent SNP ENST00000303004.5 exon1 c.G957A p.Q319Q exonic ENSG00000172216.6 . synonymous SNV ENSG00000172216.6:ENST00000303004.5:exon1:c.G957A:p.Q319Q 20q13.13 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEBPB 493 0 440 147 0.250425894378194 TRUE NA +ENSG00000275004.4 . BCM GRCh38.p13 chr22 22488541 22488541 + A A G Silent SNP ENST00000626650.3 exon4 c.T858C p.S286S exonic ENSG00000275004.4 . synonymous SNV ENSG00000275004.4:ENST00000626650.3:exon4:c.T858C:p.S286S 22q11.22 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64528824;OCCURENCE=1(liver) ZNF280B 263 0 189 77 0.289473684210526 NA TRUE +ENSG00000147234.10 . BCM GRCh38.p13 chrX 107601513 107601513 + T T G Silent SNP ENST00000276185.8 exon16 c.T3573G p.S1191S exonic ENSG00000147234.10 . synonymous SNV ENSG00000147234.10:ENST00000276185.8:exon16:c.T3573G:p.S1191S Xq22.3 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRMPD3 235 0 77 101 0.567415730337079 TRUE TRUE +ENSG00000133063.16 . BCM GRCh38.p13 chr1 203216430 203216430 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000133063.16 ENST00000367229.6:c.*459G>A . . 1q32.1 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHIT1 326 0 234 93 0.284403669724771 TRUE NA +ENSG00000074317.11 . BCM GRCh38.p13 chr5 176626651 176626651 + G G A Intron SNP NA NA NA NA intronic ENSG00000074317.11 . . . 5q35.2 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59434839;OCCURENCE=1(breast) SNCB 224 1 242 60 0.198675496688742 TRUE NA +ENSG00000095951.17 . BCM GRCh38.p13 chr6 12020407 12020407 + C C A Intron SNP NA NA NA NA intronic ENSG00000095951.17 . . . 6p24.1 C3L-00011 . . . . . . . . . 1.11 D . . . . N . . N . T T . 0.016 0.235 0.043 . . . T T T T -0.065 0.980 0.484 N N -0.629 0.936 -0.851 0.687 1.000 0.676 0.573 0.564 0.714 . 1.820 0.673 -0.633 -0.436 -0.182 0.000 0.000 0.000 780 . . . . HIVEP1 186 0 155 62 0.285714285714286 TRUE TRUE +ENSG00000112715.24 . BCM GRCh38.p13 chr6 43770958 43770958 + C C G 5'Flank SNP NA NA NA NA upstream ENSG00000112715.24;ENSG00000272114.1 dist=251 . . 6p21.1 C3L-00011 . . . . . . . . . 4.18 D D B B . N . T N . T T D 0.039 0.159 0.030 . D T T T T T 0.759 8.999 0.901 N N -0.813 0.636 -0.798 0.760 1.000 0.442 0.522 0.522 0.250 . 3.840 0.854 0.117 0.056 -0.368 0.004 0.995 0.834 856 . . . . VEGFA 101 0 103 54 0.343949044585987 TRUE TRUE +ENSG00000082269.16 . BCM GRCh38.p13 chr6 70556915 70556915 + C C A Intron SNP NA NA NA NA intronic ENSG00000082269.16 . . . 6q13 C3L-00011 . . . . . . . . . 1.13 D . . . . N . T N 0.142 T T T 0.070 0.477 0.043 . . . T T T T 0.197 3.091 0.137 N N -0.990 0.415 -1.095 0.381 0.000 0.554 0.588 0.547 0.564 . 4.900 2.150 0.909 -0.255 -0.949 0.002 0.000 0.001 785 . . . . FAM135A 40 0 15 9 0.375 TRUE NA +ENSG00000198221.10 . BCM GRCh38.p13 chr6 167826160 167826160 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000198221.10 . . . 6q27 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AFDN-DT 434 2 403 24 0.0562060889929742 TRUE NA +ENSG00000196683.10 . BCM GRCh38.p13 chr7 22822238 22822238 + T T G Intron SNP NA NA NA NA intronic ENSG00000196683.10 . . . 7p15.3 C3L-00011 . . . . . . . . . 0.12 . . . . . N . . N 0.133 T T T 0.010 0.245 0.040 . . T T T T T 0.690 8.363 0.661 N N -0.548 1.084 -0.728 0.860 1.000 0.493 0.219 0.695 0.250 . 3.610 1.130 0.008 -0.187 0.665 0.000 0.001 0.042 872 . . . . TOMM7 88 1 48 32 0.4 TRUE TRUE +ENSG00000110492.15 . BCM GRCh38.p13 chr11 46383617 46383617 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000110492.15 ENST00000405308.6:c.*123C>T . . 11p11.2 C3L-00011 7.127e-05 0 0 0.0011 0 0 0 0 rs752311378 3.8 . . . . . D . . . 0.351 T T . 0.216 . 0.580 . . . T T D T 1.920 18.640 0.862 D . 0.292 3.737 0.333 3.916 1.000 0.188 0.265 0.334 0.289 0.866 4.960 4.960 2.644 1.026 0.597 0.987 0.942 0.984 32 . . . . MDK 264 0 238 79 0.249211356466877 TRUE NA +ENSG00000251562.8 . BCM GRCh38.p13 chr11 65501090 65501090 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 52 0 39 4 0.0930232558139535 TRUE NA +ENSG00000186642.16 . BCM GRCh38.p13 chr11 72635999 72635999 + C C T Intron SNP NA NA NA NA intronic ENSG00000186642.16 . . . 11q13.4 C3L-00011 0.0001 0 0 0 . 0 0 0.0001 rs765358212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE2A 42 0 75 32 0.299065420560748 TRUE NA +ENSG00000084453.16 . BCM GRCh38.p13 chr12 21319378 21319378 + C C T Intron SNP NA NA NA NA intronic ENSG00000084453.16 . . . 12p12.1 C3L-00011 1.656e-05 0 0 0 0 1.499e-05 0 6.056e-05 rs758922924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56597878;OCCURENCE=1(ovary) SLCO1A2 235 0 185 56 0.232365145228216 TRUE NA +ENSG00000067225.18 . BCM GRCh38.p13 chr15 72230976 72230976 + G G C Intron SNP NA NA NA NA intronic ENSG00000067225.18 . . . 15q23 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKM 61 0 55 23 0.294871794871795 TRUE NA +ENSG00000187595.16 . BCM GRCh38.p13 chr17 42038013 42038013 + C C A Intron SNP NA NA NA NA intronic ENSG00000187595.16 . . . 17q21.2 C3L-00011 . . . . . . . . . 0.4 . . . . . N . . . . . . . . . . . . . T T . . 1.738 17.290 0.809 N . . . . . 0.100 0.077 0.071 0.074 0.079 0.069 3.900 -1.010 -0.552 0.102 0.599 0.000 0.002 0.010 489 . . . . ZNF385C 99 1 76 38 0.333333333333333 TRUE TRUE +ENSG00000171634.18 . BCM GRCh38.p13 chr17 67963364 67963364 + T T A Intron SNP NA NA NA NA intronic ENSG00000171634.18 . . . 17q24.2 C3L-00011 . . . . . . . . . 4.6 . . . . . D . . . . T T . 0.341 . . . . . . . . D 2.026 19.450 0.959 D D 0.584 5.760 0.566 5.818 1.000 0.731 0.780 0.644 0.649 . 5.390 4.320 7.738 1.138 0.665 1.000 1.000 1.000 946 Zinc_finger,_PHD-type;Zinc_finger,_PHD-finger . . . BPTF 61 0 50 30 0.375 NA TRUE +ENSG00000104812.15 . BCM GRCh38.p13 chr19 48969130 48969130 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000104812.15 ENST00000323798.8:c.*158G>T . . 19q13.33 C3L-00011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GYS1 16 0 13 8 0.380952380952381 TRUE NA +ENSG00000083444.17 . BCM GRCh38.p13 chr1 11960743 11960743 + A A G Missense_Mutation SNP ENST00000196061.5 exon10 c.A1073G p.N358S exonic ENSG00000083444.17 . nonsynonymous SNV ENSG00000083444.17:ENST00000196061.5:exon10:c.A1073G:p.N358S 1p36.22 C3L-00026 . . . . . . . . . 2.20 T T B B N N L D N 0.116 T T D 0.140 . 0.755 0.161 T T T T T T 0.555 7.070 0.749 N N -1.044 0.359 -1.079 0.397 1.000 0.706 0.725 0.710 0.714 . 5.610 -2.360 0.098 1.292 0.733 0.000 0.019 0.523 783 . . . . PLOD1 201 0 182 31 0.145539906103286 TRUE TRUE +ENSG00000048707.15 . BCM GRCh38.p13 chr1 12291068 12291068 + - NA T Frame_Shift_Ins INS ENST00000620676.6 exon23 c.5797dupT p.Y1933Lfs*10 exonic ENSG00000048707.15 . frameshift insertion ENSG00000048707.15:ENST00000620676.6:exon23:c.5797dupT:p.Y1933Lfs*10 1p36.22 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS13D NA NA NA NA NA NA NA +ENSG00000159658.13 . BCM GRCh38.p13 chr1 46718073 46718073 + T T G Missense_Mutation SNP ENST00000371933.8 exon1 c.A15C p.K5N exonic ENSG00000159658.13 . nonsynonymous SNV ENSG00000159658.13:ENST00000371933.8:exon1:c.A15C:p.K5N 1p33 C3L-00026 . . . . . . . . . 11.20 D D D P D D M T D 0.417 T T D 0.121 0.313 0.600 0.491 T T T T D D 3.698 25.400 0.997 D N 0.382 4.237 0.377 4.198 1.000 0.543 0.686 0.686 0.639 . 5.650 3.330 2.915 1.138 0.665 1.000 1.000 0.998 166 . . . . EFCAB14 117 0 66 32 0.326530612244898 TRUE TRUE +ENSG00000189195.14 . BCM GRCh38.p13 chr1 92176833 92176833 + G G T Missense_Mutation SNP ENST00000637221.2 exon3 c.G101T p.R34M exonic ENSG00000189195.14 . nonsynonymous SNV ENSG00000189195.14:ENST00000637221.2:exon3:c.G101T:p.R34M 1p22.1 C3L-00026 . . . . . . . . . 3.13 . . . . N D . . . . T T T 0.096 0.233 0.107 . T T T T D T 2.954 23.300 0.948 D N 0.300 3.778 0.261 3.496 0.000 0.554 0.574 0.602 0.621 . 6.020 1.020 1.319 -0.130 -0.680 1.000 0.997 0.987 741 . . . . BTBD8 28 0 23 12 0.342857142857143 NA TRUE +ENSG00000136643.12 . BCM GRCh38.p13 chr1 213240839 213240839 + A A T Missense_Mutation SNP ENST00000366960.8 exon11 c.A1363T p.S455C exonic ENSG00000136643.12 . nonsynonymous SNV ENSG00000136643.12:ENST00000366960.8:exon11:c.A1363T:p.S455C 1q32.3 C3L-00026 . . . . . . . . . 7.20 D D P B D D M T N 0.262 T T D 0.116 0.342 0.560 0.072 T T T T T T 2.304 21.600 0.944 D N -0.000 2.510 0.015 2.412 0.168 0.707 0.616 0.725 0.714 . 5.720 4.600 2.217 1.312 0.756 1.000 1.000 0.997 521 . . . . RPS6KC1 188 0 139 51 0.268421052631579 TRUE TRUE +ENSG00000118004.18 . BCM GRCh38.p13 chr2 3644039 3644039 + T T A Missense_Mutation SNP ENST00000349077.9 exon7 c.T737A p.V246E exonic ENSG00000118004.18 . nonsynonymous SNV ENSG00000118004.18:ENST00000349077.9:exon7:c.T737A:p.V246E 2p25.3 C3L-00026 . . . . . . . . . 9.20 D D D P D D L T N 0.461 T T D 0.208 0.578 0.666 0.710 T T T T D T 2.680 22.800 0.990 D D 0.396 4.319 0.412 4.444 1.000 0.554 0.624 0.602 0.613 . 5.090 5.090 2.671 1.109 0.609 1.000 1.000 0.998 946 C-type_lectin-like;C-type_lectin,_conserved_site;Collectin,_C-type_lectin-like_domain . . . COLEC11 517 1 390 169 0.302325581395349 TRUE TRUE +ENSG00000079785.15 . BCM GRCh38.p13 chr2 15630847 15630847 + G G A Missense_Mutation SNP ENST00000233084.8 exon26 c.G2164A p.A722T exonic ENSG00000079785.15 . nonsynonymous SNV ENSG00000079785.15:ENST00000233084.8:exon26:c.G2164A:p.A722T 2p24.3 C3L-00026 . . . . . . . . . 7.20 T T B B D D L T N 0.680 T T D 0.283 0.207 0.714 0.290 T T T T D D 2.871 23.200 0.997 D D 0.404 4.366 0.575 5.919 1.000 0.707 0.725 0.725 0.714 . 6.170 6.170 9.977 1.176 0.676 1.000 0.980 0.974 466 . . . . DDX1 197 0 114 40 0.25974025974026 TRUE TRUE +ENSG00000068724.17 . BCM GRCh38.p13 chr2 47073715 47073715 + G G A Missense_Mutation SNP ENST00000319190.11 exon20 c.G2369A p.S790N exonic ENSG00000068724.17 . nonsynonymous SNV ENSG00000068724.17:ENST00000319190.11:exon20:c.G2369A:p.S790N 2p21 C3L-00026 . . . . . . . . . 0.20 T T B B N N L T N 0.151 T T T 0.012 0.351 0.277 0.060 T T T T T T 1.926 18.690 0.966 N N -0.514 1.150 -0.391 1.388 1.000 0.672 0.702 0.571 0.636 . 5.190 3.120 0.914 1.176 0.618 0.549 1.000 0.995 906 Tetratricopeptide_repeat-containing_domain . . . TTC7A 157 0 120 55 0.314285714285714 TRUE TRUE +ENSG00000135636.14 . BCM GRCh38.p13 chr2 71658866 71658887 + CCTTCTTTTCAGGGCCTCTTCA CCTTCTTTTCAGGGCCTCTTCA - Frame_Shift_Del DEL ENST00000258104.7 exon43 c.4639_4648del p.G1547Kfs*58 exonic ENSG00000135636.14 . frameshift deletion ENSG00000135636.14:ENST00000258104.7:exon43:c.4639_4648del:p.G1547Kfs*58 2p13.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYSF 237 0 159 41 0.205 TRUE TRUE +ENSG00000163161.14 . BCM GRCh38.p13 chr2 127272951 127272951 + - NA G Frame_Shift_Ins INS ENST00000285398.7 exon11 c.1740dupC p.Y581Lfs*23 exonic ENSG00000163161.14 . frameshift insertion ENSG00000163161.14:ENST00000285398.7:exon11:c.1740dupC:p.Y581Lfs*23 2q14.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERCC3 NA NA NA NA NA NA NA +ENSG00000163161.14 . BCM GRCh38.p13 chr2 127289739 127289739 + C C T Missense_Mutation SNP ENST00000285398.7 exon5 c.G607A p.E203K exonic ENSG00000163161.14 . nonsynonymous SNV ENSG00000163161.14:ENST00000285398.7:exon5:c.G607A:p.E203K 2q14.3 C3L-00026 . . . . . . . . . 8.20 T T B B D D M T N 0.625 T T D 0.150 0.502 0.783 0.372 T T T T D D 2.889 23.200 0.999 D D 0.093 2.859 0.247 3.420 1.000 0.707 0.725 0.725 0.711 . 4.870 4.870 7.665 0.947 0.599 1.000 0.980 0.982 970 . . . . ERCC3 331 0 237 89 0.273006134969325 TRUE TRUE +ENSG00000144230.16 . BCM GRCh38.p13 chr2 127651130 127651130 + C C T Missense_Mutation SNP ENST00000544369.5 exon4 c.C479T p.A160V exonic ENSG00000144230.16 . nonsynonymous SNV ENSG00000144230.16:ENST00000544369.5:exon4:c.C479T:p.A160V 2q14.3 C3L-00026 . . . . . . . . . 14.20 D T D D D D M T D 0.953 T T D 0.503 0.834 0.652 0.898 T T D D D D 3.862 26.100 0.999 D D 0.790 8.579 0.756 8.932 1.000 0.578 0.590 0.608 0.563 . 5.380 5.380 6.084 1.026 0.549 1.000 1.000 0.974 946 GPCR,_rhodopsin-like,_7TM . . . GPR17 117 0 81 30 0.27027027027027 TRUE TRUE +ENSG00000152127.9 . BCM GRCh38.p13 chr2 134403047 134403047 + T T A Nonsense_Mutation SNP ENST00000281923.4 exon11 c.T1440A p.Y480X exonic ENSG00000152127.9 . stopgain ENSG00000152127.9:ENST00000281923.4:exon11:c.T1440A:p.Y480X 2q21.3 C3L-00026 . . . . . . . . . 4.6 . . . . D A . . . 0.860 . . . . . . . . . D D . . 4.628 32 0.987 N N -0.360 1.473 -0.701 0.898 1.000 0.706 0.725 0.710 0.714 . 5.690 -8.480 -1.457 -0.173 -0.133 0.001 0.997 0.979 890 . . . . MGAT5 163 0 116 48 0.292682926829268 TRUE TRUE +ENSG00000183091.19 . BCM GRCh38.p13 chr2 151619591 151619591 + T T C Missense_Mutation SNP ENST00000172853.14 exon69 c.A10003G p.M3335V exonic ENSG00000183091.19 . nonsynonymous SNV ENSG00000183091.19:ENST00000172853.14:exon69:c.A10003G:p.M3335V 2q23.3 C3L-00026 8.284e-06 0 0 0 0 1.498e-05 0 0 rs768336165 11.20 D D P B D D H T N 0.599 T T D 0.225 . 0.495 0.113 T T D D D D 3.056 23.500 0.996 N D 0.510 5.117 0.547 5.620 1.000 0.581 0.489 0.565 0.649 . 5.410 5.410 7.960 1.136 0.665 1.000 1.000 0.999 888 . . . . NEB 221 0 266 80 0.23121387283237 TRUE NA +ENSG00000163093.12 . BCM GRCh38.p13 chr2 169492932 169492935 + AACA AACA - Frame_Shift_Del DEL ENST00000295240.8 exon6 c.445_448del p.N149Sfs*3 exonic ENSG00000163093.12;ENSG00000251569.1 . frameshift deletion ENSG00000163093.12:ENST00000295240.8:exon6:c.445_448del:p.N149Sfs*3,ENSG00000251569.1:ENST00000513963.1:exon6:c.445_448del:p.N149Sfs*3 2q31.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BBS5 323 0 259 69 0.210365853658537 TRUE TRUE +ENSG00000188738.15 . BCM GRCh38.p13 chr2 185793855 185793855 + A A T Missense_Mutation SNP ENST00000424728.6 exon16 c.A6719T p.K2240I exonic ENSG00000188738.15 . nonsynonymous SNV ENSG00000188738.15:ENST00000424728.6:exon16:c.A6719T:p.K2240I 2q32.1 C3L-00026 . . . . . . . . . 6.16 D D . . . N M T D 0.310 T T D 0.082 . 0.312 . T T T T D T 1.444 15.370 0.979 N . -0.566 1.051 -0.621 1.014 0.986 0.487 0.547 0.574 0.564 . 5.650 3.300 0.515 1.312 0.756 0.000 0.011 0.014 771 . . . . FSIP2 111 0 74 50 0.403225806451613 TRUE TRUE +ENSG00000115419.13 . BCM GRCh38.p13 chr2 190910313 190910313 + C C A Missense_Mutation SNP ENST00000320717.8 exon7 c.C1030A p.L344I exonic ENSG00000115419.13 . nonsynonymous SNV ENSG00000115419.13:ENST00000320717.8:exon7:c.C1030A:p.L344I 2q32.2 C3L-00026 . . . . . . . . . 9.20 D D P D D D L T N 0.676 T T T 0.343 0.727 0.610 2.914 D T T T D D 2.876 23.200 0.995 D N 0.203 3.315 0.123 2.830 1.000 0.732 0.744 0.744 0.735 . 5.290 1.470 1.279 -0.179 -0.167 0.813 0.997 0.998 570 . . . . GLS 132 0 102 12 0.105263157894737 TRUE TRUE +ENSG00000115592.11 . BCM GRCh38.p13 chr2 218828043 218828045 + GTC GTC - In_Frame_Del DEL ENST00000439262.6 exon6 c.733_735del p.D245del exonic ENSG00000115592.11 . nonframeshift deletion ENSG00000115592.11:ENST00000439262.6:exon6:c.733_735del:p.D245del 2q35 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKAG3 205 0 211 50 0.191570881226054 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146612 10146612 + - NA T Frame_Shift_Ins INS ENST00000256474.3 exon2 c.440dupT p.A149Cfs*25 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon2:c.440dupT:p.A149Cfs*25 3p25.3 C3L-00026 . . . . . . . . rs869025653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000176542.10 . BCM GRCh38.p13 chr3 113661360 113661360 + - NA AA Frame_Shift_Ins INS ENST00000316407.9 exon7 c.321_322insTT p.E108Lfs*4 exonic ENSG00000176542.10 . frameshift insertion ENSG00000176542.10:ENST00000316407.9:exon7:c.321_322insTT:p.E108Lfs*4 3q13.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USF3 NA NA NA NA NA NA NA +ENSG00000114654.7 . BCM GRCh38.p13 chr3 129002273 129002280 + GGACCTGC GGACCTGC - Frame_Shift_Del DEL ENST00000436022.2 exon1 c.645_652del p.D216Rfs*7 exonic ENSG00000114654.7 . frameshift deletion ENSG00000114654.7:ENST00000436022.2:exon1:c.645_652del:p.D216Rfs*7 3q21.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFCC1 176 0 156 47 0.231527093596059 TRUE TRUE +ENSG00000123933.17 . BCM GRCh38.p13 chr4 2250657 2250657 + T T C Missense_Mutation SNP ENST00000337190.7 exon6 c.A517G p.S173G exonic ENSG00000123933.17 . nonsynonymous SNV ENSG00000123933.17:ENST00000337190.7:exon6:c.A517G:p.S173G 4p16.3 C3L-00026 . . . . . . . . . 8.20 T T D P D D L T D 0.389 T T D 0.179 0.249 0.151 0.925 T T T T D T 3.226 23.900 0.994 D D 0.348 4.036 0.353 4.040 1.000 0.707 0.702 0.723 0.714 . 4.240 4.240 3.691 1.138 0.665 1.000 1.000 0.999 627 . . . . MXD4 172 0 151 55 0.266990291262136 TRUE TRUE +ENSG00000087266.17 . BCM GRCh38.p13 chr4 2831927 2831927 + C C G Missense_Mutation SNP ENST00000503393.8 exon10 c.C1355G p.P452R exonic ENSG00000087266.17 . nonsynonymous SNV ENSG00000087266.17:ENST00000503393.8:exon10:c.C1355G:p.P452R 4p16.3 C3L-00026 . . . . . . . . . 11.19 D D B B N N . D N 0.550 D D D 0.562 0.324 0.930 0.185 T T D D D D 2.172 20.700 0.989 D N 0.028 2.613 0.034 2.480 1.000 0.722 0.699 0.702 0.711 . 5.440 4.580 1.109 0.947 0.599 0.100 0.720 0.132 726 . . . . SH3BP2 280 0 197 106 0.34983498349835 TRUE TRUE +ENSG00000188981.11 . BCM GRCh38.p13 chr4 3255918 3255918 + C C G Missense_Mutation SNP ENST00000438480.7 exon3 c.C790G p.R264G exonic ENSG00000188981.11 . nonsynonymous SNV ENSG00000188981.11:ENST00000438480.7:exon3:c.C790G:p.R264G 4p16.3 C3L-00026 . . . . . . . . . 14.18 D D D D . D M . D 0.870 T T D 0.299 0.405 0.099 1.216 T T D D D D 3.986 26.900 0.999 D D 0.533 5.306 0.489 5.062 1.000 0.615 0.634 0.576 0.563 . 4.710 4.710 2.873 1.026 0.599 1.000 1.000 0.985 572 . . . . MSANTD1 85 0 36 20 0.357142857142857 TRUE TRUE +ENSG00000125089.17 . BCM GRCh38.p13 chr4 8228290 8228290 + G G A Missense_Mutation SNP ENST00000245105.8 exon12 c.G2596A p.A866T exonic ENSG00000125089.17 . nonsynonymous SNV ENSG00000125089.17:ENST00000245105.8:exon12:c.G2596A:p.A866T 4p16.1 C3L-00026 . . . . . . . . rs1002236984 0.20 T T B B N N L T N 0.056 T T T 0.029 0.355 0.436 0.028 T T T T T T 0.269 3.926 0.937 N N -0.969 0.438 -1.035 0.447 1.000 0.731 0.750 0.604 0.684 . 4.370 -2.080 0.114 -0.582 -0.235 0.002 0.004 0.091 988 . . . . SH3TC1 132 0 106 52 0.329113924050633 TRUE NA +ENSG00000170516.17 . BCM GRCh38.p13 chr4 46735122 46735122 + C C G Missense_Mutation SNP ENST00000355591.8 exon3 c.G71C p.R24T exonic ENSG00000170516.17 . nonsynonymous SNV ENSG00000170516.17:ENST00000355591.8:exon3:c.G71C:p.R24T 4p12 C3L-00026 . . . . . . . . . 11.19 D D D D D D . T D 0.674 T T D 0.446 0.863 0.170 0.001 T T D T D T 3.018 23.400 0.980 D N 0.446 4.642 0.359 4.077 0.001 0.487 0.574 0.574 0.564 . 4.100 4.100 3.447 0.947 0.549 0.979 0.031 0.085 784 . . . . COX7B2 154 0 113 50 0.306748466257669 TRUE TRUE +ENSG00000079557.5 . BCM GRCh38.p13 chr4 73487730 73487730 + C C A Missense_Mutation SNP ENST00000226355.5 exon6 c.C622A p.P208T exonic ENSG00000079557.5 . nonsynonymous SNV ENSG00000079557.5:ENST00000226355.5:exon6:c.C622A:p.P208T 4q13.3 C3L-00026 . . . . . . . . . 4.20 T T D P N N M T D 0.163 T T T 0.053 0.290 0.380 0.016 T T T T D T 1.255 14.060 0.952 N N -0.537 1.105 -0.716 0.877 0.000 0.487 0.574 0.547 0.530 . 4.480 0.548 -0.193 0.071 0.599 0.000 0.150 0.733 788 Serum_albumin,_N-terminal;Serum_albumin,_conserved_site . . . AFM 104 1 70 21 0.230769230769231 TRUE TRUE +ENSG00000109775.11 . BCM GRCh38.p13 chr4 185408407 185408407 + T T C Missense_Mutation SNP ENST00000264689.11 exon8 c.A860G p.Y287C exonic ENSG00000109775.11 . nonsynonymous SNV ENSG00000109775.11:ENST00000264689.11:exon8:c.A860G:p.Y287C 4q35.1 C3L-00026 . . . . . . . . . 17.20 D D D D D D H T D 0.987 D T D 0.688 0.927 0.689 0.473 T D D D D D 3.750 25.600 0.997 D D 0.801 8.794 0.651 6.919 1.000 0.732 0.744 0.710 0.714 . 6.030 6.030 7.664 1.138 0.665 1.000 0.558 0.555 945 . . . ID=COSV52993183;OCCURENCE=1(liver) UFSP2 107 0 86 39 0.312 TRUE TRUE +ENSG00000153404.14 . BCM GRCh38.p13 chr5 162834 162834 + C C G Missense_Mutation SNP ENST00000283426.11 exon11 c.C1694G p.P565R exonic ENSG00000153404.14 . nonsynonymous SNV ENSG00000153404.14:ENST00000283426.11:exon11:c.C1694G:p.P565R 5p15.33 C3L-00026 . . . . . . . . . 4.19 D T P B . N L D D 0.110 T D T 0.251 0.460 0.489 0.348 T T T T T T 0.320 4.521 0.994 N N -0.868 0.561 -0.991 0.500 1.000 0.635 0.574 0.644 0.613 . 2.860 0.409 -0.045 -0.206 -0.362 0.000 0.010 0.066 946 . . . . PLEKHG4B 45 0 32 11 0.255813953488372 TRUE TRUE +ENSG00000038382.20 . BCM GRCh38.p13 chr5 14498232 14498232 + C C A Missense_Mutation SNP ENST00000344204.9 exon52 c.C8191A p.H2731N exonic ENSG00000038382.20 . nonsynonymous SNV ENSG00000038382.20:ENST00000344204.9:exon52:c.C8191A:p.H2731N 5p15.2 C3L-00026 . . . . . . . . . 7.20 T D B B D D L T N 0.698 T T T 0.099 0.429 0.263 0.328 T T T T D D 3.002 23.400 0.988 D D -0.016 2.455 0.180 3.089 1.000 0.719 0.702 0.723 0.714 . 5.160 5.160 5.945 1.026 0.599 1.000 0.998 1.000 739 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TRIO 133 0 104 33 0.240875912408759 TRUE TRUE +ENSG00000178996.14 . BCM GRCh38.p13 chr5 54518133 54518133 + G G A Missense_Mutation SNP ENST00000343017.11 exon1 c.G181A p.A61T exonic ENSG00000178996.14 . nonsynonymous SNV ENSG00000178996.14:ENST00000343017.11:exon1:c.G181A:p.A61T 5q11.2 C3L-00026 . . . . . . . . . 3.20 T T B B U D N T N 0.050 T T D 0.064 0.320 0.316 . D T T T T T 1.898 18.470 0.975 N N -0.625 0.943 -0.564 1.101 1.000 0.267 0.569 0.520 0.250 . 3.460 3.460 0.911 1.068 0.489 0.001 0.914 0.775 409 SH3_domain . . . SNX18 55 0 64 17 0.209876543209877 TRUE TRUE +ENSG00000145715.15 . BCM GRCh38.p13 chr5 87349318 87349319 + CC CC - Frame_Shift_Del DEL ENST00000274376.11 exon8 c.1207_1208del p.P403Nfs*14 exonic ENSG00000145715.15 . frameshift deletion ENSG00000145715.15:ENST00000274376.11:exon8:c.1207_1208del:p.P403Nfs*14 5q14.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASA1 199 0 163 55 0.252293577981651 TRUE TRUE +ENSG00000047188.16 . BCM GRCh38.p13 chr5 113532928 113532928 + G G A Missense_Mutation SNP ENST00000161863.9 exon5 c.G725A p.R242H exonic ENSG00000047188.16 . nonsynonymous SNV ENSG00000047188.16:ENST00000161863.9:exon5:c.G725A:p.R242H 5q22.2 C3L-00026 . . . . . . . . . 14.20 D D D P D D M T D 0.890 T T T 0.647 0.705 0.360 0.480 D T D D D D 4.468 32 0.999 D D 0.887 10.710 0.870 12.525 1.000 0.651 0.654 0.659 0.684 . 5.630 5.630 9.898 1.175 0.617 1.000 1.000 0.998 909 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . ID=COSV50748251;OCCURENCE=1(large_intestine),1(central_nervous_system) YTHDC2 132 0 110 7 0.0598290598290598 TRUE TRUE +ENSG00000113658.18 . BCM GRCh38.p13 chr5 136154133 136154133 + C C T Missense_Mutation SNP ENST00000545279.6 exon3 c.C373T p.P125S exonic ENSG00000113658.18 . nonsynonymous SNV ENSG00000113658.18:ENST00000545279.6:exon3:c.C373T:p.P125S 5q31.1 C3L-00026 . . . . . . . . . 18.18 D D . . D D H D D 0.929 D D D 0.959 0.860 0.980 2.370 D D D D D D 3.728 25.500 0.999 D D 0.922 11.639 0.831 11.107 1.000 0.732 0.744 0.744 0.714 . 5.710 4.840 7.905 1.026 0.599 1.000 1.000 0.998 731 MAD_homology_1,_Dwarfin-type;MAD_homology,_MH1 . . . SMAD5 67 0 80 9 0.101123595505618 TRUE NA +ENSG00000113205.5 . BCM GRCh38.p13 chr5 141102615 141102615 + G G A Missense_Mutation SNP ENST00000231130.3 exon1 c.G1966A p.A656T exonic ENSG00000113205.5 . nonsynonymous SNV ENSG00000113205.5:ENST00000231130.3:exon1:c.G1966A:p.A656T 5q31.3 C3L-00026 . . . . . . . . . 4.14 D D . . . N . T N 0.156 T T T 0.083 0.656 0.243 . T . T T D T 2.728 22.900 0.995 D . -0.340 1.519 -0.294 1.576 0.755 0.638 0.574 0.653 0.564 . 4.380 4.380 3.936 1.078 0.477 0.963 0.136 0.006 491 . . . ID=COSV50565386;OCCURENCE=2(large_intestine),2(stomach),1(lung) PCDHB3 417 0 356 135 0.274949083503055 NA TRUE +ENSG00000242419.5 . BCM GRCh38.p13 chr5 141487473 141487473 + G G A Missense_Mutation SNP ENST00000306593.1 exon1 c.G2300A p.G767D exonic ENSG00000242419.5 . nonsynonymous SNV ENSG00000242419.5:ENST00000306593.1:exon1:c.G2300A:p.G767D 5q31.3 C3L-00026 . . . . . . . . . 10.18 T D D D . D N T N 0.674 T T D 0.176 0.327 0.425 1.188 . T D D D T 3.691 25.400 0.997 D D 0.471 4.815 0.515 5.301 1.000 0.624 0.588 0.668 0.542 . 5.430 5.430 2.640 1.176 0.618 1.000 0.999 0.963 744 . . . . PCDHGC4 264 0 180 64 0.262295081967213 TRUE TRUE +ENSG00000145888.11 . BCM GRCh38.p13 chr5 151892355 151892355 + C C G Missense_Mutation SNP ENST00000455880.2 exon2 c.G140C p.G47A exonic ENSG00000145888.11 . nonsynonymous SNV ENSG00000145888.11:ENST00000455880.2:exon2:c.G140C:p.G47A 5q33.1 C3L-00026 . . . . . . . . . 16.19 D D D D D D L T N 0.783 D D D 0.540 0.462 0.883 1.953 D . D D D D 3.588 25.000 0.999 D D 0.734 7.625 0.743 8.643 1.000 0.487 0.574 0.547 0.564 . 5.480 5.480 7.391 1.026 0.549 1.000 0.999 0.995 923 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . GLRA1 260 0 230 86 0.272151898734177 TRUE TRUE +ENSG00000169230.10 . BCM GRCh38.p13 chr5 177304644 177304644 + G G C Missense_Mutation SNP ENST00000303204.9 exon2 c.G112C p.D38H exonic ENSG00000169230.10 . nonsynonymous SNV ENSG00000169230.10:ENST00000303204.9:exon2:c.G112C:p.D38H 5q35.3 C3L-00026 . . . . . . . . . 16.20 D D D D D D M T D 0.961 T T D 0.693 0.918 0.651 1.760 D T D D D D 4.901 33 0.996 D D 0.998 13.860 0.918 14.541 1.000 0.442 0.522 0.522 0.562 . 5.190 5.190 9.345 1.176 0.676 1.000 1.000 0.998 934 PRELI/MSF1_domain . . . PRELID1 365 0 280 122 0.303482587064677 TRUE TRUE +ENSG00000188996.4 . BCM GRCh38.p13 chr6 656197 656197 + C C T Missense_Mutation SNP ENST00000380907.2 exon1 c.G748A p.A250T exonic ENSG00000188996.4 . nonsynonymous SNV ENSG00000188996.4:ENST00000380907.2:exon1:c.G748A:p.A250T 6p25.3 C3L-00026 . . . . . . . . . 3.20 T D P P U N M T N 0.378 T T T 0.169 0.728 0.145 0.893 T T T T D T 1.664 16.790 0.988 N N -0.408 1.367 -0.601 1.045 0.804 0.554 0.588 0.602 0.528 . 3.910 0.866 2.742 0.130 -0.176 0.185 0.002 0.002 934 . . . . HUS1B 284 0 165 83 0.334677419354839 TRUE TRUE +ENSG00000145949.11 . BCM GRCh38.p13 chr6 2679350 2679350 + C C A Nonsense_Mutation SNP ENST00000274643.9 exon9 c.G817T p.E273X exonic ENSG00000145949.11 . stopgain ENSG00000145949.11:ENST00000274643.9:exon9:c.G817T:p.E273X 6p25.2 C3L-00026 . . . . . . . . . 5.6 . . . . D A . . . 0.468 . . . . . . . . . D D . . 8.095 41 0.998 D N 1.121 18.483 0.948 15.958 1.000 0.554 0.574 0.574 0.621 . 5.110 5.110 7.905 1.026 0.599 1.000 0.997 0.988 835 Protein_kinase_domain . . ID=COSV51149937;OCCURENCE=1(central_nervous_system) MYLK4 233 2 189 83 0.305147058823529 TRUE TRUE +ENSG00000198721.12 . BCM GRCh38.p13 chr6 4130855 4130855 + C C G Missense_Mutation SNP ENST00000380118.7 exon3 c.G224C p.G75A exonic ENSG00000198721.12 . nonsynonymous SNV ENSG00000198721.12:ENST00000380118.7:exon3:c.G224C:p.G75A 6p25.2 C3L-00026 . . . . . . . . . 16.20 D D D D D D H T D 0.707 D T D 0.528 0.948 0.685 0.396 T T D D D D 3.738 25.600 0.998 D D 1.025 14.722 0.962 16.686 1.000 0.707 0.725 0.725 0.635 . 6.060 6.060 6.965 1.026 0.599 1.000 0.882 0.967 744 Acyl-CoA-binding_protein,_ACBP,_conserved_site;Acyl-CoA-binding_protein,_ACBP . . . ECI2 87 0 79 25 0.240384615384615 TRUE TRUE +ENSG00000196569.12 . BCM GRCh38.p13 chr6 129353231 129353231 + C C T Missense_Mutation SNP ENST00000421865.2 exon32 c.C4591T p.P1531S exonic ENSG00000196569.12 . nonsynonymous SNV ENSG00000196569.12:ENST00000421865.2:exon32:c.C4591T:p.P1531S 6q22.33 C3L-00026 . . . . . . . . . 4.19 D . B B N D L T D 0.167 T T D 0.168 0.593 0.659 0.111 T T T T T T 2.145 20.400 0.997 N N -0.351 1.493 -0.202 1.781 1.000 0.554 0.574 0.602 0.617 . 5.750 4.890 1.071 1.026 0.549 0.559 0.912 0.982 838 Laminin_EGF_domain . . . LAMA2 149 0 114 38 0.25 TRUE TRUE +ENSG00000106004.5 . BCM GRCh38.p13 chr7 27143391 27143391 + A A G Missense_Mutation SNP ENST00000222726.4 exon1 c.T217C p.Y73H exonic ENSG00000106004.5 . nonsynonymous SNV ENSG00000106004.5:ENST00000222726.4:exon1:c.T217C:p.Y73H 7p15.2 C3L-00026 . . . . . . . . . 16.20 D T D P D D M D N 0.591 D D D 0.704 0.407 0.783 1.210 D D D D D T 3.858 26.100 0.994 D D 0.707 7.221 0.691 7.594 1.000 0.437 0.578 0.607 0.581 . 5.460 5.460 6.827 1.312 0.691 1.000 1.000 0.987 394 . . . . HOXA5 62 0 86 17 0.16504854368932 TRUE TRUE +ENSG00000065883.16 . BCM GRCh38.p13 chr7 39950749 39950749 + G G C Missense_Mutation SNP ENST00000181839.10 exon1 c.G108C p.Q36H exonic ENSG00000065883.16 . nonsynonymous SNV ENSG00000065883.16:ENST00000181839.10:exon1:c.G108C:p.Q36H 7p14.1 C3L-00026 . . . . . . . . . 4.19 D T B B . N N T N 0.183 T T D 0.046 0.078 0.301 1.658 D T T T D T 2.937 23.300 0.984 N N -0.324 1.557 -0.148 1.915 1.000 0.442 0.522 0.391 0.492 . 3.580 3.580 1.964 1.063 0.475 1.000 1.000 0.996 783 . . . . CDK13 78 0 114 33 0.224489795918367 TRUE TRUE +ENSG00000189056.14 . BCM GRCh38.p13 chr7 103539131 103539131 + G G A Missense_Mutation SNP ENST00000428762.6 exon45 c.C7127T p.S2376F exonic ENSG00000189056.14 . nonsynonymous SNV ENSG00000189056.14:ENST00000428762.6:exon45:c.C7127T:p.S2376F 7q22.1 C3L-00026 . . . . . . . . . 10.20 D D D D D D L T N 0.640 T T T 0.282 0.475 0.477 2.019 T T T T D D 4.283 29.400 0.998 D D 0.785 8.495 0.766 9.197 1.000 0.537 0.574 0.598 0.530 . 5.350 5.350 9.602 1.176 0.676 1.000 0.975 0.979 904 . . . . RELN 366 0 270 229 0.458917835671343 TRUE TRUE +ENSG00000008311.15 . BCM GRCh38.p13 chr7 122133701 122133701 + A A G Missense_Mutation SNP ENST00000417368.7 exon2 c.T26C p.L9P exonic ENSG00000008311.15 . nonsynonymous SNV ENSG00000008311.15:ENST00000417368.7:exon2:c.T26C:p.L9P 7q31.32 C3L-00026 . . . . . . . . . 1.19 T T P B N N M . N 0.145 T T T 0.051 0.472 0.404 0.232 T T T T T T 0.867 10.090 0.882 N N -0.622 0.948 -0.715 0.878 1.000 0.646 0.588 0.696 0.655 . 5.600 0.441 0.312 0.314 0.756 0.000 0.006 0.026 609 . . . . AASS 372 0 333 87 0.207142857142857 TRUE TRUE +ENSG00000133597.11 . BCM GRCh38.p13 chr7 140694723 140694723 + G G C Missense_Mutation SNP ENST00000072869.9 exon8 c.G1801C p.G601R exonic ENSG00000133597.11 . nonsynonymous SNV ENSG00000133597.11:ENST00000072869.9:exon8:c.G1801C:p.G601R 7q34 C3L-00026 . . . . . . . . . 17.20 D D D D D D H T D 0.835 D T D 0.652 0.720 0.830 1.515 D T D D D D 4.264 29.300 0.999 D D 0.842 9.668 0.744 8.661 0.996 0.732 0.725 0.710 0.728 . 5.000 4.110 9.602 1.176 0.676 1.000 0.998 0.997 756 . . . . ADCK2 124 0 140 34 0.195402298850575 TRUE TRUE +ENSG00000173273.16 . BCM GRCh38.p13 chr8 9556397 9556397 + G G A Missense_Mutation SNP ENST00000310430.11 exon1 c.G458A p.S153N exonic ENSG00000173273.16 . nonsynonymous SNV ENSG00000173273.16:ENST00000310430.11:exon1:c.G458A:p.S153N 8p23.1 C3L-00026 8.243e-06 9.625e-05 0 0 0 0 0 0 rs370539656 7.20 D D B B D D N T N 0.677 T T D 0.073 . 0.296 0.349 T T T T D T 3.082 23.600 0.993 D N -0.156 2.004 0.033 2.475 1.000 0.442 0.484 0.522 0.373 . 4.890 3.940 3.968 1.176 0.676 1.000 1.000 0.996 571 . . . . TNKS 320 0 248 103 0.293447293447293 TRUE TRUE +ENSG00000221914.11 . BCM GRCh38.p13 chr8 26354540 26354540 + G G C Missense_Mutation SNP ENST00000380737.8 exon4 c.G253C p.D85H exonic ENSG00000221914.11 . nonsynonymous SNV ENSG00000221914.11:ENST00000380737.8:exon4:c.G253C:p.D85H 8p21.2 C3L-00026 . . . . . . . . . 14.19 D D D D U D H T D 0.889 T T D 0.615 0.925 0.846 2.502 . T D D D D 4.207 28.700 0.996 D D 1.105 17.746 1.053 22.587 1.000 0.706 0.725 0.710 0.714 . 5.980 5.980 10.003 1.176 0.676 1.000 1.000 1.000 767 Protein_phosphatase_2A_regulatory_subunit_PR55,_conserved_site . . . PPP2R2A 91 0 63 34 0.350515463917526 TRUE TRUE +ENSG00000022567.9 . BCM GRCh38.p13 chr8 141212450 141212450 + C C A Missense_Mutation SNP ENST00000517878.5 exon7 c.G2048T p.G683V exonic ENSG00000022567.9 . nonsynonymous SNV ENSG00000022567.9:ENST00000517878.5:exon7:c.G2048T:p.G683V 8q24.3 C3L-00026 . . . . . . . . . 17.19 D D D D D D . D D 0.990 D D D 0.761 0.788 0.907 1.120 T T D D D D 3.234 23.900 0.995 D D 0.583 5.759 0.430 4.575 1.000 0.718 0.654 0.571 0.655 . 5.270 5.270 7.353 1.026 0.597 1.000 0.028 0.068 964 Major_facilitator_superfamily_domain . . . SLC45A4 139 0 107 29 0.213235294117647 TRUE TRUE +ENSG00000234616.9 . BCM GRCh38.p13 chr8 142665095 142665095 + C C T Missense_Mutation SNP ENST00000615982.4 exon2 c.G964A p.A322T exonic ENSG00000234616.9 . nonsynonymous SNV ENSG00000234616.9:ENST00000615982.4:exon2:c.G964A:p.A322T 8q24.3 C3L-00026 . . . . . . . . . 0.7 . T . . . . . T . 0.335 . . . . . 0.433 . T . T T . T 2.132 20.400 0.799 N . . . . . 1.000 0.156 0.158 0.172 0.221 0.086 3.670 1.700 0.737 -1.041 -0.224 0.238 0.089 0.350 982 DDE_superfamily_endonuclease_domain . . . JRK 178 0 141 51 0.265625 TRUE TRUE +ENSG00000165124.18 . BCM GRCh38.p13 chr9 110404335 110404335 + C C A Missense_Mutation SNP ENST00000374469.6 exon39 c.G9658T p.V3220L exonic ENSG00000165124.18 . nonsynonymous SNV ENSG00000165124.18:ENST00000374469.6:exon39:c.G9658T:p.V3220L 9q31.3 C3L-00026 . . . . . . . . . 3.17 . D B B D N L . . 0.111 T T T 0.105 0.568 0.043 0.099 T T T T T T 1.662 16.780 0.963 D N -0.789 0.671 -0.692 0.911 0.000 0.554 0.574 0.618 0.564 . 5.730 2.130 2.399 0.179 -0.344 0.967 0.996 0.954 969 Sushi/SCR/CCP_domain . . . SVEP1 145 0 100 37 0.27007299270073 TRUE NA +ENSG00000167114.13 . BCM GRCh38.p13 chr9 128345517 128345517 + G G C Missense_Mutation SNP ENST00000300456.5 exon3 c.G524C p.R175P exonic ENSG00000167114.13 . nonsynonymous SNV ENSG00000167114.13:ENST00000300456.5:exon3:c.G524C:p.R175P 9q34.11 C3L-00026 . . . . . . . . . 12.20 D D D D D N M T D 0.745 T T D 0.245 0.745 0.775 0.887 T T D T D D 2.771 23.000 0.974 N D -0.039 2.375 -0.260 1.648 0.933 0.737 0.654 0.733 0.714 . 5.990 2.190 1.280 1.172 0.672 0.002 0.606 0.215 329 AMP-dependent_synthetase/ligase . . . SLC27A4 43 0 40 16 0.285714285714286 NA TRUE +ENSG00000167114.13 . BCM GRCh38.p13 chr9 128345519 128345519 + G G T Missense_Mutation SNP ENST00000300456.5 exon3 c.G526T p.A176S exonic ENSG00000167114.13 . nonsynonymous SNV ENSG00000167114.13:ENST00000300456.5:exon3:c.G526T:p.A176S 9q34.11 C3L-00026 . . . . . . . . . 9.20 D T P P D D M T D 0.618 T T T 0.294 0.742 0.737 0.697 T T T T D D 3.418 24.500 0.986 D D 0.332 3.950 0.251 3.441 0.999 0.737 0.654 0.733 0.714 . 5.990 3.850 7.710 1.172 0.672 0.997 0.671 0.229 329 AMP-dependent_synthetase/ligase . . . SLC27A4 43 0 39 16 0.290909090909091 TRUE NA +ENSG00000123243.15 . BCM GRCh38.p13 chr10 7637314 7637314 + A A C Missense_Mutation SNP ENST00000397146.7 exon5 c.T566G p.V189G exonic ENSG00000123243.15 . nonsynonymous SNV ENSG00000123243.15:ENST00000397146.7:exon5:c.T566G:p.V189G 10p14 C3L-00026 . . . . . . . . . 11.19 D D D D D D . T D 0.684 T T D 0.346 0.645 0.383 . T T T T D T 2.893 23.200 0.992 D D 0.204 3.321 0.131 2.866 0.999 0.521 0.590 0.719 0.564 . 5.880 4.750 6.987 0.320 -0.054 1.000 0.005 0.001 964 . . . . ITIH5 311 1 195 79 0.288321167883212 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 16840394 16840395 + CA CA - Frame_Shift_Del DEL ENST00000377833.10 exon62 c.9967_9968del p.W3323Gfs*62 exonic ENSG00000107611.16 . frameshift deletion ENSG00000107611.16:ENST00000377833.10:exon62:c.9967_9968del:p.W3323Gfs*62 10p13 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUBN 275 0 209 83 0.284246575342466 TRUE NA +ENSG00000148513.18 . BCM GRCh38.p13 chr10 37141898 37141898 + G G C Missense_Mutation SNP ENST00000602533.6 exon7 c.G1001C p.G334A exonic ENSG00000148513.18 . nonsynonymous SNV ENSG00000148513.18:ENST00000602533.6:exon7:c.G1001C:p.G334A 10p11.21 C3L-00026 . . . . . . . . . 4.19 D D D D . N L T N 0.218 T T T 0.063 0.352 0.455 0.056 T T T T T T 0.653 8.016 0.978 N N -0.330 1.541 -0.572 1.089 0.000 0.487 0.574 0.574 0.564 . 0.675 0.675 0.098 0.366 0.314 0.390 0.015 0.011 934 . . . . ANKRD30A 333 0 228 85 0.271565495207668 NA TRUE +ENSG00000187122.17 . BCM GRCh38.p13 chr10 97002344 97002344 + G G T Missense_Mutation SNP ENST00000266058.9 exon36 c.C4180A p.L1394I exonic ENSG00000187122.17 . nonsynonymous SNV ENSG00000187122.17:ENST00000266058.9:exon36:c.C4180A:p.L1394I 10q24.1 C3L-00026 . . . . . . . . . 5.20 T T B B D D L T N 0.233 T T D 0.300 0.577 0.600 0.740 T T T T T T 1.822 17.900 0.919 D D -0.025 2.422 0.100 2.733 1.000 0.581 0.547 0.576 0.613 . 4.960 4.960 1.520 1.176 0.676 0.875 0.999 0.960 715 EGF-like_domain;EGF-like_calcium-binding_domain . . . SLIT1 80 0 61 23 0.273809523809524 TRUE NA +ENSG00000180988.2 . BCM GRCh38.p13 chr11 5821216 5821216 + T T C Missense_Mutation SNP ENST00000317037.2 exon1 c.T881C p.V294A exonic ENSG00000180988.2 . nonsynonymous SNV ENSG00000180988.2:ENST00000317037.2:exon1:c.T881C:p.V294A 11p15.4 C3L-00026 . . . . . . . . . 11.20 D D P B N D M T D 0.500 T T D 0.336 0.719 0.655 0.185 T T D T D D 3.392 24.400 0.998 D D 0.475 4.850 0.526 5.405 1.000 0.554 0.574 0.618 0.564 . 6.090 6.090 7.926 1.100 0.638 1.000 0.994 0.955 674 GPCR,_rhodopsin-like,_7TM . . . OR52N2 162 0 113 51 0.310975609756098 TRUE TRUE +ENSG00000214872.8 . BCM GRCh38.p13 chr11 57543108 57543108 + G G A Missense_Mutation SNP ENST00000527972.5 exon1 c.G466A p.D156N exonic ENSG00000214872.8 . nonsynonymous SNV ENSG00000214872.8:ENST00000527972.5:exon1:c.G466A:p.D156N 11q12.1 C3L-00026 3.018e-05 0.0004 0 0 0 0 0 0 rs772298294 1.18 D T . . U N L T N 0.152 T T T 0.095 . 0.113 . T T T T T T 0.835 9.750 0.997 N N -0.769 0.701 -0.764 0.808 0.938 0.554 0.588 0.492 0.530 . 5.440 2.590 1.238 -0.129 -0.108 0.004 0.000 0.027 0 . . . . SMTNL1 312 0 234 90 0.277777777777778 TRUE NA +ENSG00000166902.5 . BCM GRCh38.p13 chr11 59807829 59807829 + - NA T Frame_Shift_Ins INS ENST00000300151.5 exon3 c.141dupA p.P48Tfs*4 exonic ENSG00000166902.5 . frameshift insertion ENSG00000166902.5:ENST00000300151.5:exon3:c.141dupA:p.P48Tfs*4 11q12.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRPL16 NA NA NA NA NA NA NA +ENSG00000183134.5 . BCM GRCh38.p13 chr11 60852753 60852753 + C C - Frame_Shift_Del DEL ENST00000332539.5 exon2 c.970delG p.E324Rfs*31 exonic ENSG00000183134.5 . frameshift deletion ENSG00000183134.5:ENST00000332539.5:exon2:c.970delG:p.E324Rfs*31 11q12.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTGDR2 69 0 60 22 0.268292682926829 TRUE TRUE +ENSG00000154134.15 . BCM GRCh38.p13 chr11 124870658 124870658 + G G C Missense_Mutation SNP ENST00000397801.6 exon6 c.G963C p.E321D exonic ENSG00000154134.15 . nonsynonymous SNV ENSG00000154134.15:ENST00000397801.6:exon6:c.G963C:p.E321D 11q24.2 C3L-00026 . . . . . . . . . 9.20 D T D D N D L T N 0.581 T T D 0.215 0.447 0.731 0.297 T T T T D D 3.503 24.700 0.998 D D 0.271 3.633 0.204 3.205 0.009 0.598 0.563 0.596 0.639 . 4.210 2.320 3.017 1.176 0.676 1.000 0.858 0.949 712 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . ROBO3 228 0 171 47 0.215596330275229 TRUE TRUE +ENSG00000174370.10 . BCM GRCh38.p13 chr11 128904481 128904481 + T T C Missense_Mutation SNP ENST00000662328.1 exon2 c.A86G p.D29G exonic ENSG00000174370.10 . nonsynonymous SNV ENSG00000174370.10:ENST00000662328.1:exon2:c.A86G:p.D29G 11q24.3 C3L-00026 . . . . . . . . . 3.17 D D B B . N N . D 0.453 T T T 0.229 0.124 0.030 0.648 . T T T T T 1.552 16.070 0.970 N N -1.356 0.136 -1.422 0.140 1.000 0.549 0.563 0.608 0.616 . 2.470 -1.480 -0.114 0.022 -0.274 0.000 0.001 0.001 413 . . . . C11orf45 180 0 92 46 0.333333333333333 TRUE TRUE +ENSG00000010219.13 . BCM GRCh38.p13 chr12 4599781 4599781 + C C G Missense_Mutation SNP ENST00000540757.6 exon8 c.C774G p.H258Q exonic ENSG00000010219.13 . nonsynonymous SNV ENSG00000010219.13:ENST00000540757.6:exon8:c.C774G:p.H258Q 12p13.32 C3L-00026 . . . . . . . . . 4.20 T T B B D N N T D 0.268 T T T 0.050 0.422 0.170 0.097 T T T T D T 1.615 16.470 0.942 D N -0.598 0.992 -0.476 1.241 0.001 0.554 0.588 0.574 0.542 . 5.200 0.392 0.435 -0.262 -0.198 0.995 0.997 0.966 725 Protein_kinase_domain . . . DYRK4 69 1 72 10 0.121951219512195 TRUE TRUE +ENSG00000139190.16 . BCM GRCh38.p13 chr12 6464899 6464899 + C C T Missense_Mutation SNP ENST00000396308.3 exon4 c.G331A p.V111I exonic ENSG00000139190.16 . nonsynonymous SNV ENSG00000139190.16:ENST00000396308.3:exon4:c.G331A:p.V111I 12p13.31 C3L-00026 . . . . . . . . . 2.19 T . B B N D N T N 0.186 T T T 0.060 0.506 0.143 0.451 T T T T T T 1.747 17.350 0.800 D N -0.587 1.011 -0.311 1.542 1.000 0.707 0.696 0.725 0.636 . 5.730 3.650 1.542 1.026 0.599 0.998 1.000 0.999 861 Synaptobrevin . . . VAMP1 102 0 108 30 0.217391304347826 TRUE TRUE +ENSG00000123104.12 . BCM GRCh38.p13 chr12 26486231 26486231 + C C T Missense_Mutation SNP ENST00000381340.8 exon41 c.G5684A p.G1895E exonic ENSG00000123104.12 . nonsynonymous SNV ENSG00000123104.12:ENST00000381340.8:exon41:c.G5684A:p.G1895E 12p11.23 C3L-00026 . . . . . . . . . 11.20 T T D P D D L D N 0.615 D D D 0.549 0.374 0.833 0.324 T T D D D T 2.449 22.300 0.993 D N 0.007 2.534 -0.034 2.246 1.000 0.707 0.725 0.659 0.714 . 5.070 5.070 1.715 1.010 0.580 0.469 0.289 0.958 914 . . . . ITPR2 336 0 268 93 0.257617728531856 TRUE TRUE +ENSG00000170456.16 . BCM GRCh38.p13 chr12 31452056 31452056 + C C T Missense_Mutation SNP ENST00000389082.10 exon5 c.G1513A p.V505I exonic ENSG00000170456.16 . nonsynonymous SNV ENSG00000170456.16:ENST00000389082.10:exon5:c.G1513A:p.V505I 12p11.21 C3L-00026 . . . . . . . . . 6.20 T T B B D D N T N 0.146 T T T 0.100 0.536 0.273 0.462 T T T T D D 1.685 16.930 0.971 D D -0.139 2.055 0.060 2.576 1.000 0.706 0.725 0.710 0.714 . 4.670 4.670 4.885 1.008 0.599 1.000 1.000 1.000 944 Tripartite_DENN_domain;dDENN_domain . . . DENND5B 176 0 154 55 0.263157894736842 TRUE TRUE +ENSG00000079337.16 . BCM GRCh38.p13 chr12 47738022 47738022 + A A G Missense_Mutation SNP ENST00000449771.7 exon27 c.T2653C p.C885R exonic ENSG00000079337.16 . nonsynonymous SNV ENSG00000079337.16:ENST00000449771.7:exon27:c.T2653C:p.C885R 12q13.11 C3L-00026 . . . . . . . . . 8.20 D T P P N D L T D 0.583 T T D 0.271 0.367 0.728 0.741 T T D D D T 3.410 24.400 0.759 D N 0.214 3.367 0.234 3.355 1.000 0.563 0.588 0.602 0.636 . 4.810 3.650 4.877 1.207 0.754 0.997 0.946 0.648 894 Ras_guanine-nucleotide_exchange_factors_catalytic_domain . . . RAPGEF3 131 0 97 45 0.316901408450704 TRUE TRUE +ENSG00000110844.13 . BCM GRCh38.p13 chr12 49635956 49635956 + G G A Missense_Mutation SNP ENST00000380281.5 exon14 c.G1323A p.M441I exonic ENSG00000110844.13 . nonsynonymous SNV ENSG00000110844.13:ENST00000380281.5:exon14:c.G1323A:p.M441I 12q13.12 C3L-00026 . . . . . . . . . 6.20 T T B B D D N T N 0.516 T T T 0.032 0.399 0.222 0.522 T T T T D D 3.230 23.900 0.991 D D -0.060 2.304 0.144 2.923 1.000 0.672 0.644 0.702 0.592 . 5.000 5.000 4.858 1.176 0.676 1.000 1.000 1.000 292 FF_domain . . . PRPF40B 157 0 118 48 0.289156626506024 TRUE TRUE +ENSG00000196091.15 . BCM GRCh38.p13 chr12 101649426 101649426 + T T G Missense_Mutation SNP ENST00000550270.1 exon13 c.T1288G p.L430V exonic ENSG00000196091.15 . nonsynonymous SNV ENSG00000196091.15:ENST00000550270.1:exon13:c.T1288G:p.L430V 12q23.2 C3L-00026 . . . . . . . . . 4.20 D T B B N D L T N 0.455 T T T 0.235 0.492 0.610 0.258 T T T T T T 1.602 16.390 0.782 D D -0.498 1.180 -0.366 1.434 0.003 0.487 0.574 0.574 0.564 . 5.980 3.340 0.917 0.188 -0.194 1.000 0.992 0.473 680 . . . . MYBPC1 227 0 191 56 0.226720647773279 TRUE TRUE +ENSG00000076555.15 . BCM GRCh38.p13 chr12 109266318 109266318 + G G A Missense_Mutation SNP ENST00000338432.11 exon53 c.G7333A p.V2445I exonic ENSG00000076555.15 . nonsynonymous SNV ENSG00000076555.15:ENST00000338432.11:exon53:c.G7333A:p.V2445I 12q24.11 C3L-00026 . . . . . . . . . 2.20 T T B B N D L T N 0.061 T T T 0.069 0.391 0.227 0.192 T T T T T T 0.910 10.540 0.924 D N -0.944 0.467 -1.009 0.477 0.002 0.638 0.610 0.653 0.613 . 4.930 -3.300 0.067 -0.199 -0.153 0.977 0.011 0.094 715 . . . . ACACB 62 0 67 19 0.22093023255814 TRUE NA +ENSG00000204842.18 . BCM GRCh38.p13 chr12 111488591 111488591 + G G A Missense_Mutation SNP ENST00000550104.5 exon15 c.C2605T p.L869F exonic ENSG00000204842.18 . nonsynonymous SNV ENSG00000204842.18:ENST00000550104.5:exon15:c.C2605T:p.L869F 12q24.12 C3L-00026 . . . . . . . . . 2.20 D T P B N N N T N 0.312 T T T 0.060 0.159 0.563 0.570 T T T T T D 1.900 18.490 0.991 N N -0.446 1.286 -0.410 1.354 0.999 0.707 0.654 0.725 0.714 . 5.680 2.500 1.486 1.176 0.676 0.355 0.994 0.996 580 . . . . ATXN2 356 0 251 75 0.230061349693252 TRUE TRUE +ENSG00000111275.13 . BCM GRCh38.p13 chr12 111803945 111803945 + G G A Missense_Mutation SNP ENST00000261733.7 exon12 c.G1493A p.G498E exonic ENSG00000111275.13 . nonsynonymous SNV ENSG00000111275.13:ENST00000261733.7:exon12:c.G1493A:p.G498E 12q24.12 C3L-00026 . . . . . . . . . 16.20 D D D D D D M T D 0.770 T T D 0.665 0.833 0.496 1.141 T D D D D D 3.582 25.000 0.997 D D 0.887 10.710 0.812 10.478 1.000 0.706 0.710 0.710 0.714 . 6.050 6.050 8.156 1.176 0.676 1.000 0.085 0.426 331 Aldehyde_dehydrogenase_domain . . ID=COSV55670582;OCCURENCE=1(skin) ALDH2 56 0 45 25 0.357142857142857 TRUE TRUE +ENSG00000173064.13 . BCM GRCh38.p13 chr12 112228745 112228745 + C C T Missense_Mutation SNP ENST00000377560.9 exon42 c.G6580A p.A2194T exonic ENSG00000173064.13 . nonsynonymous SNV ENSG00000173064.13:ENST00000377560.9:exon42:c.G6580A:p.A2194T 12q24.13 C3L-00026 . . . . . . . . . 8.13 . D . . . D . . . 0.922 T T T 0.311 . 0.043 1.593 T T D D D D 3.367 24.300 0.999 D D 0.702 7.150 0.764 9.135 1.000 0.732 0.725 0.744 0.714 . 5.950 5.950 7.389 1.008 0.599 1.000 1.000 1.000 102 . . . . HECTD4 191 0 158 62 0.281818181818182 TRUE TRUE +ENSG00000196498.13 . BCM GRCh38.p13 chr12 124430700 124430700 + C C G Missense_Mutation SNP ENST00000405201.5 exon9 c.G970C p.A324P exonic ENSG00000196498.13 . nonsynonymous SNV ENSG00000196498.13:ENST00000405201.5:exon9:c.G970C:p.A324P 12q24.31 C3L-00026 . . . . . . . . . 13.20 D D D P D D M T D 0.595 T T T 0.328 0.166 0.528 1.230 D D T T D D 3.910 26.400 0.944 D D 0.636 6.307 0.579 5.971 1.000 0.707 0.702 0.723 0.714 . 3.750 3.750 7.896 1.026 0.599 1.000 0.932 0.991 474 . . . . NCOR2 121 0 83 32 0.278260869565217 TRUE TRUE +ENSG00000136153.20 . BCM GRCh38.p13 chr13 75800859 75800859 + T T A Missense_Mutation SNP ENST00000377534.8 exon7 c.T638A p.I213N exonic ENSG00000136153.20 . nonsynonymous SNV ENSG00000136153.20:ENST00000377534.8:exon7:c.T638A:p.I213N 13q22.2 C3L-00026 . . . . . . . . . 9.20 D D B B N D M T D 0.622 T T D 0.067 0.219 0.320 . T T T T D D 2.091 19.950 0.976 D N -0.782 0.682 -0.783 0.781 1.000 0.744 0.630 0.688 0.584 . 5.610 -1.870 0.172 0.206 -0.164 0.478 0.267 0.846 945 . . . . LMO7 245 0 167 77 0.315573770491803 TRUE TRUE +ENSG00000152767.17 . BCM GRCh38.p13 chr13 98390113 98390113 + C C T Missense_Mutation SNP ENST00000319562.11 exon10 c.C1012T p.R338W exonic ENSG00000152767.17 . nonsynonymous SNV ENSG00000152767.17:ENST00000319562.11:exon10:c.C1012T:p.R338W 13q32.2 C3L-00026 1.652e-05 0 0 0 0 3.004e-05 0 0 rs779764921 20.20 D D D D D D M D D 0.945 D D D 0.830 . 0.979 0.878 D D D D D D 4.361 31 0.999 D D 0.785 8.491 0.731 8.384 1.000 0.707 0.670 0.702 0.714 . 5.810 4.890 3.077 1.026 0.599 1.000 0.988 0.952 910 FERM_adjacent_(FA) . . ID=COSV60334210;OCCURENCE=2(skin) FARP1 104 0 96 19 0.165217391304348 TRUE TRUE +ENSG00000196792.12 . BCM GRCh38.p13 chr14 31026143 31026149 + CCATCCC CCATCCC - Frame_Shift_Del DEL ENST00000357479.10 exon1 c.37_43del p.G13Rfs*96 exonic ENSG00000196792.12 . frameshift deletion ENSG00000196792.12:ENST00000357479.10:exon1:c.37_43del:p.G13Rfs*96 14q12 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STRN3 94 0 55 18 0.246575342465753 TRUE TRUE +ENSG00000015133.19 . BCM GRCh38.p13 chr14 91272864 91272864 + C C T Missense_Mutation SNP ENST00000389857.11 exon30 c.G5848A p.V1950M exonic ENSG00000015133.19 . nonsynonymous SNV ENSG00000015133.19:ENST00000389857.11:exon30:c.G5848A:p.V1950M 14q32.11 C3L-00026 . . . . . . . . . 7.20 D D P P U D M T N 0.426 T T D 0.239 0.293 0.522 0.366 T T T T D T 2.772 23.000 0.997 D N 0.313 3.845 0.222 3.295 1.000 0.672 0.702 0.723 0.636 . 5.010 4.110 2.414 0.109 0.549 0.997 0.109 0.041 917 . . . . CCDC88C 61 0 45 11 0.196428571428571 TRUE NA +ENSG00000140199.12 . BCM GRCh38.p13 chr15 34256261 34256261 + A A G Missense_Mutation SNP ENST00000354181.8 exon7 c.T713C p.M238T exonic ENSG00000140199.12 . nonsynonymous SNV ENSG00000140199.12:ENST00000354181.8:exon7:c.T713C:p.M238T 15q14 C3L-00026 . . . . . . . . . 17.20 D D P P D D L D D 0.912 D D D 0.960 0.658 0.886 0.972 D D D D D D 3.835 26.000 0.994 D D 0.761 8.072 0.764 9.137 1.000 0.707 0.725 0.659 0.636 . 5.420 5.420 9.325 1.312 0.756 1.000 1.000 0.999 801 Amino_acid_permease/_SLC12A_domain . . . SLC12A6 276 0 224 112 0.333333333333333 TRUE TRUE +ENSG00000137878.17 . BCM GRCh38.p13 chr15 57637701 57637701 + C C A Missense_Mutation SNP ENST00000267853.10 exon9 c.C940A p.H314N exonic ENSG00000137878.17;ENSG00000263155.6 . nonsynonymous SNV ENSG00000263155.6:ENST00000267853.10:exon9:c.C940A:p.H314N,ENSG00000137878.17:ENST00000587652.5:exon9:c.C940A:p.H314N 15q21.3 C3L-00026 . . . . . . . . . 5.20 T D P B N D L T N 0.471 T T T 0.085 0.055 0.429 0.193 T T T T D D 3.129 23.700 0.975 D N 0.112 2.932 0.266 3.525 0.833 0.707 0.590 0.618 0.714 . 5.500 5.500 3.303 1.010 0.580 0.999 0.946 0.921 829 . . . . GCOM1 77 0 75 30 0.285714285714286 TRUE TRUE +ENSG00000263155.6 . BCM GRCh38.p13 chr15 57684457 57684457 + A A G Missense_Mutation SNP ENST00000267853.10 exon13 c.A1360G p.T454A exonic ENSG00000263155.6 . nonsynonymous SNV ENSG00000263155.6:ENST00000267853.10:exon13:c.A1360G:p.T454A 15q21.3 C3L-00026 . . . . . . . . . 3.18 T D B B . D L T N 0.046 T T T 0.038 0.255 0.150 0.026 . T T T T T 2.196 20.800 0.987 D N -0.248 1.746 -0.059 2.167 0.094 0.707 0.588 0.574 0.714 . 5.700 4.580 3.814 1.290 0.731 1.000 0.996 0.988 903 . . . . MYZAP 186 0 175 70 0.285714285714286 TRUE NA +ENSG00000235711.4 . BCM GRCh38.p13 chr15 79294270 79294270 + G G A Nonsense_Mutation SNP ENST00000421388.3 exon1 c.G986A p.W329X exonic ENSG00000235711.4 . stopgain ENSG00000235711.4:ENST00000421388.3:exon1:c.G986A:p.W329X 15q25.1 C3L-00026 . . . . . . . . . 4.5 . . . . . D . . . 0.046 . . . . . . . . . D D . . 7.169 37 0.995 D N 0.692 7.004 0.507 5.221 0.475 0.447 0.563 0.316 0.613 . 4.720 4.720 5.083 1.146 0.676 1.000 0.910 0.145 900 . . . . ANKRD34C 154 1 104 65 0.384615384615385 TRUE TRUE +ENSG00000196547.15 . BCM GRCh38.p13 chr15 90905475 90905475 + T T - Frame_Shift_Del DEL ENST00000559717.6 exon3 c.357delT p.L120Wfs*132 exonic ENSG00000196547.15 . frameshift deletion ENSG00000196547.15:ENST00000559717.6:exon3:c.357delT:p.L120Wfs*132 15q26.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAN2A2 298 0 273 18 0.0618556701030928 NA TRUE +ENSG00000140471.17 . BCM GRCh38.p13 chr15 100580745 100580745 + T T C Missense_Mutation SNP ENST00000314742.13 exon2 c.A98G p.N33S exonic ENSG00000140471.17 . nonsynonymous SNV ENSG00000140471.17:ENST00000314742.13:exon2:c.A98G:p.N33S 15q26.3 C3L-00026 . . . . . . . . . 2.19 D T B B N N L T D 0.133 T T T 0.018 0.404 0.124 0.020 T T T T T T 0.739 8.812 0.591 N . -1.383 0.124 -1.399 0.152 0.262 0.638 0.654 0.653 0.757 . 5.370 -5.160 -0.533 -0.176 -0.818 0.110 0.813 0.468 963 . . . . LINS1 79 1 60 25 0.294117647058824 TRUE TRUE +ENSG00000140675.13 . BCM GRCh38.p13 chr16 31488051 31488051 + G G C Missense_Mutation SNP ENST00000330498.4 exon8 c.G899C p.R300P exonic ENSG00000140675.13 . nonsynonymous SNV ENSG00000140675.13:ENST00000330498.4:exon8:c.G899C:p.R300P 16p11.2 C3L-00026 . . . . . . . . . 19.20 D D D D D D H D D 0.992 D D D 0.975 0.939 0.947 1.023 T D D D D D 4.989 33 0.998 D D 0.887 10.726 0.769 9.271 1.000 0.652 0.552 0.641 0.568 . 4.140 4.140 8.148 1.163 0.676 1.000 1.000 0.996 308 . . . . SLC5A2 220 0 271 71 0.207602339181287 TRUE TRUE +ENSG00000140795.13 . BCM GRCh38.p13 chr16 46748189 46748189 + G G T Nonsense_Mutation SNP ENST00000394809.9 exon1 c.C5A p.S2X exonic ENSG00000140795.13 . stopgain ENSG00000140795.13:ENST00000394809.9:exon1:c.C5A:p.S2X 16q11.2 C3L-00026 . . . . . . . . . 4.5 . . . . . D . . . 0.129 . . . . . . . . . D D . . 6.073 35 0.991 D N 0.688 6.954 0.538 5.524 1.000 0.428 0.492 0.469 0.613 . 5.500 5.500 2.564 1.164 0.604 0.996 0.700 0.159 275 . . . . MYLK3 73 0 67 24 0.263736263736264 TRUE TRUE +ENSG00000038358.15 . BCM GRCh38.p13 chr16 67881293 67881293 + G G A Missense_Mutation SNP ENST00000358933.10 exon20 c.G2665A p.A889T exonic ENSG00000038358.15 . nonsynonymous SNV ENSG00000038358.15:ENST00000358933.10:exon20:c.G2665A:p.A889T 16q22.1 C3L-00026 . . . . . . . . . 10.19 D D D P D D L . N 0.686 T T T 0.217 0.131 0.401 1.452 T T D T D D 4.101 27.800 0.999 D D 0.599 5.912 0.649 6.890 1.000 0.707 0.698 0.702 0.714 . 5.270 5.270 9.602 1.176 0.618 1.000 0.999 0.993 8 . . . . EDC4 193 0 198 57 0.223529411764706 TRUE TRUE +ENSG00000124391.5 . BCM GRCh38.p13 chr16 88639971 88639971 + C C A Missense_Mutation SNP ENST00000244241.5 exon3 c.C493A p.R165S exonic ENSG00000124391.5 . nonsynonymous SNV ENSG00000124391.5:ENST00000244241.5:exon3:c.C493A:p.R165S 16q24.2 C3L-00026 . . . . . . . . . 1.20 T T B B N N N T N 0.094 T T D 0.099 0.547 0.237 0.119 T T T T T T 0.429 5.746 0.823 N N -1.286 0.173 -1.334 0.188 1.000 0.598 0.616 0.287 0.639 . 4.450 0.015 1.813 -1.948 -0.965 0.004 0.004 0.015 846 . . . . IL17C 113 0 141 39 0.216666666666667 TRUE TRUE +ENSG00000167522.16 . BCM GRCh38.p13 chr16 89282587 89282587 + C C T Missense_Mutation SNP ENST00000301030.10 exon9 c.G3955A p.A1319T exonic ENSG00000167522.16 . nonsynonymous SNV ENSG00000167522.16:ENST00000301030.10:exon9:c.G3955A:p.A1319T 16q24.3 C3L-00026 1.65e-05 0.0002 0 0 0 0 0 0 rs567938525 0.20 T T B B N N L T N 0.091 T T T 0.019 0.167 0.123 0.082 T T T T T T 0.207 3.208 0.683 N N -1.219 0.214 -1.171 0.308 0.765 0.707 0.702 0.644 0.714 . 5.070 0.726 0.782 -0.377 -1.066 0.358 0.001 0.002 819 . . . . ANKRD11 203 0 245 62 0.201954397394137 TRUE NA +ENSG00000167721.11 . BCM GRCh38.p13 chr17 2334888 2334888 + C C T Missense_Mutation SNP ENST00000301364.10 exon5 c.G565A p.V189I exonic ENSG00000167721.11 . nonsynonymous SNV ENSG00000167721.11:ENST00000301364.10:exon5:c.G565A:p.V189I 17p13.3 C3L-00026 . . . . . . . . . 2.20 T T B B N D L T N 0.200 T T T 0.065 0.484 0.409 0.081 T T T T T T 1.503 15.760 0.910 D N -0.500 1.176 -0.377 1.415 1.000 0.722 0.672 0.819 0.735 . 5.400 -0.964 0.557 1.026 0.599 0.996 0.998 0.992 685 Bms1/Tsr1-type_G_domain . . . TSR1 83 0 73 24 0.247422680412371 NA TRUE +ENSG00000174326.14 . BCM GRCh38.p13 chr17 7042158 7042158 + G G T Missense_Mutation SNP ENST00000308009.5 exon3 c.C1024A p.L342M exonic ENSG00000174326.14 . nonsynonymous SNV ENSG00000174326.14:ENST00000308009.5:exon3:c.C1024A:p.L342M 17p13.1 C3L-00026 . . . . . . . . . 9.20 D D D D D N M T N 0.356 T T D 0.328 0.566 0.417 1.065 T T T T D T 3.206 23.900 0.995 D N 0.435 4.567 0.388 4.273 1.000 0.455 0.542 0.607 0.664 . 4.960 4.000 2.597 1.176 0.676 1.000 0.759 0.330 749 Major_facilitator_superfamily_domain . . . SLC16A11 56 0 50 23 0.315068493150685 TRUE NA +ENSG00000275832.5 . BCM GRCh38.p13 chr17 38462917 38462917 + G G A Missense_Mutation SNP ENST00000622683.5 exon4 c.G325A p.A109T exonic ENSG00000275832.5 . nonsynonymous SNV ENSG00000275832.5:ENST00000622683.5:exon4:c.G325A:p.A109T 17q12 C3L-00026 . . . . . . . . . 13.15 . D D D . D M . . 0.749 D D D 0.387 0.700 0.742 . T T D D D . 4.046 27.300 0.998 D D 0.900 11.055 0.829 11.031 1.000 0.722 0.588 0.702 0.735 . 5.170 5.170 7.287 1.176 0.676 1.000 1.000 0.994 113 PDZ_domain . . . ARHGAP23 120 0 96 38 0.283582089552239 TRUE TRUE +ENSG00000198933.9 . BCM GRCh38.p13 chr17 47697168 47697168 + A A T Missense_Mutation SNP ENST00000361722.7 exon3 c.A428T p.D143V exonic ENSG00000198933.9 . nonsynonymous SNV ENSG00000198933.9:ENST00000361722.7:exon3:c.A428T:p.D143V 17q21.32 C3L-00026 . . . . . . . . . 8.20 D D P B D D L T D 0.595 T T T 0.295 0.169 0.349 1.404 T T T T D D 3.462 24.600 0.942 D N 0.124 2.983 0.273 3.564 1.000 0.719 0.623 0.571 0.734 . 5.400 5.400 5.648 1.312 0.756 1.000 0.950 0.980 398 . . . . TBKBP1 90 0 74 28 0.274509803921569 TRUE TRUE +ENSG00000121073.15 . BCM GRCh38.p13 chr17 49705257 49705257 + A A G Missense_Mutation SNP ENST00000240333.12 exon5 c.T395C p.L132S exonic ENSG00000121073.15 . nonsynonymous SNV ENSG00000121073.15:ENST00000240333.12:exon5:c.T395C:p.L132S 17q21.33 C3L-00026 . . . . . . . . . 10.20 T T B B D D N T N . T T D 0.381 0.685 0.537 0.399 D T D D D D 2.529 22.500 0.983 D D -0.048 2.345 0.188 3.126 1.000 0.719 0.723 0.725 0.714 . 5.840 5.840 7.222 1.312 0.756 1.000 1.000 0.994 768 . . . . SLC35B1 103 0 75 28 0.271844660194175 TRUE TRUE +ENSG00000108819.11 . BCM GRCh38.p13 chr17 50150440 50150440 + G G - Frame_Shift_Del DEL ENST00000612501.2 exon1 c.74delC p.A25Gfs*6 exonic ENSG00000108819.11 . frameshift deletion ENSG00000108819.11:ENST00000612501.2:exon1:c.74delC:p.A25Gfs*6 17q21.33 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R9B 32 0 31 11 0.261904761904762 TRUE TRUE +ENSG00000154864.12 . BCM GRCh38.p13 chr18 10705675 10705675 + T T C Missense_Mutation SNP ENST00000503781.7 exon37 c.A5321G p.E1774G exonic ENSG00000154864.12 . nonsynonymous SNV ENSG00000154864.12:ENST00000503781.7:exon37:c.A5321G:p.E1774G 18p11.22 C3L-00026 . . . . . . . . . 7.17 T T . . . D L T N 0.329 T T D 0.361 0.211 0.408 0.825 T T D D D T 3.910 26.400 0.991 D D 0.226 3.419 0.355 4.052 1.000 0.672 0.702 0.653 0.621 . 5.430 5.430 7.563 1.133 0.661 1.000 0.981 0.945 833 . . . . PIEZO2 86 0 85 7 0.0760869565217391 TRUE NA +ENSG00000141384.13 . BCM GRCh38.p13 chr18 26286439 26286439 + G G C Missense_Mutation SNP ENST00000269142.10 exon7 c.G1530C p.Q510H exonic ENSG00000141384.13 . nonsynonymous SNV ENSG00000141384.13:ENST00000269142.10:exon7:c.G1530C:p.Q510H 18q11.2 C3L-00026 . . . . . . . . . 3.20 D T D P N N M T N 0.277 T T T 0.044 0.215 0.254 0.040 T T T T T T 1.519 15.860 0.670 N N -0.485 1.206 -0.545 1.130 0.086 0.707 0.725 0.725 0.668 . 5.280 -1.000 0.474 0.245 0.676 0.997 0.270 0.360 833 . . . . TAF4B 163 0 129 53 0.291208791208791 TRUE TRUE +ENSG00000167671.12 . BCM GRCh38.p13 chr19 4453962 4453962 + C C A Missense_Mutation SNP ENST00000301281.11 exon2 c.G215T p.G72V exonic ENSG00000167671.12 . nonsynonymous SNV ENSG00000167671.12:ENST00000301281.11:exon2:c.G215T:p.G72V 19p13.3 C3L-00026 . . . . . . . . . 1.20 T T B B N D L T N 0.444 T T T 0.025 0.309 0.386 0.057 T T T T T T 1.568 16.170 0.964 N N -0.490 1.197 -0.364 1.439 1.000 0.707 0.702 0.644 0.714 . 4.240 1.820 1.432 1.023 0.549 0.893 0.347 0.276 856 . . . . UBXN6 111 1 97 30 0.236220472440945 TRUE TRUE +ENSG00000132005.9 . BCM GRCh38.p13 chr19 13968833 13968833 + G G T Missense_Mutation SNP ENST00000254325.9 exon11 c.C1558A p.L520M exonic ENSG00000132005.9 . nonsynonymous SNV ENSG00000132005.9:ENST00000254325.9:exon11:c.C1558A:p.L520M 19p13.12 C3L-00026 . . . . . . . . . 9.20 D T P B D D M T N 0.604 T T D 0.065 0.367 0.282 1.232 T T T T D D 2.527 22.500 0.994 D D 0.288 3.718 0.367 4.131 0.996 0.696 0.654 0.723 0.636 . 5.180 5.180 4.700 1.176 0.676 1.000 0.993 0.990 934 . . . . RFX1 136 1 98 45 0.314685314685315 TRUE TRUE +ENSG00000051128.19 . BCM GRCh38.p13 chr19 18938353 18938353 + C C G Missense_Mutation SNP ENST00000392351.8 exon4 c.G303C p.Q101H exonic ENSG00000051128.19 . nonsynonymous SNV ENSG00000051128.19:ENST00000392351.8:exon4:c.G303C:p.Q101H 19p13.11 C3L-00026 . . . . . . . . . 18.20 D D D D D D L D D 0.455 D D D 0.684 0.485 0.999 1.278 T D D D D D 6.570 36 0.997 D D 0.603 5.956 0.535 5.499 1.000 0.707 0.588 0.725 0.711 . 4.070 4.070 4.919 0.906 0.596 1.000 0.991 0.962 929 WH1/EVH1_domain . . . HOMER3 62 0 56 4 0.0666666666666667 TRUE NA +ENSG00000188171.16 . BCM GRCh38.p13 chr19 20624895 20624895 + G G - Frame_Shift_Del DEL ENST00000601440.6 exon4 c.982delC p.T329Lfs*61 exonic ENSG00000188171.16 . frameshift deletion ENSG00000188171.16:ENST00000601440.6:exon4:c.982delC:p.T329Lfs*61 19p12 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF626 270 0 213 82 0.277966101694915 NA TRUE +ENSG00000229676.3 . BCM GRCh38.p13 chr19 22664828 22664828 + C C A Missense_Mutation SNP ENST00000456783.3 exon4 c.C1159A p.H387N exonic ENSG00000229676.3 . nonsynonymous SNV ENSG00000229676.3:ENST00000456783.3:exon4:c.C1159A:p.H387N 19p12 C3L-00026 . . . . . . . . . 9.19 D D D D . N M T D 0.183 T D T 0.202 0.738 0.852 2.080 T T T T D T 2.064 19.740 0.969 D N 0.091 2.852 -0.232 1.712 0.004 0.487 0.574 0.547 0.564 . 1.120 1.120 2.200 0.431 0.210 0.585 0.002 0.007 988 Zinc_finger_C2H2-type . . . ZNF492 141 0 146 37 0.202185792349727 NA TRUE +ENSG00000090924.15 . BCM GRCh38.p13 chr19 39424945 39424945 + G G A Missense_Mutation SNP ENST00000425673.6 exon19 c.G3812A p.G1271D exonic ENSG00000090924.15 . nonsynonymous SNV ENSG00000090924.15:ENST00000425673.6:exon19:c.G3812A:p.G1271D 19q13.2 C3L-00026 . . . . . . . . . 9.17 . D D D N D L . . 0.754 D D D 0.392 0.180 0.659 . T T T T D T 3.307 24.100 0.998 D N 0.471 4.821 0.397 4.336 1.000 0.672 0.702 0.702 0.711 . 4.610 4.610 2.258 1.176 0.676 0.993 0.729 0.303 688 . . . . PLEKHG2 144 0 107 34 0.24113475177305 TRUE TRUE +ENSG00000196235.14 . BCM GRCh38.p13 chr19 39464858 39464858 + G G A Missense_Mutation SNP ENST00000432763.7 exon11 c.G685A p.A229T exonic ENSG00000196235.14 . nonsynonymous SNV ENSG00000196235.14:ENST00000432763.7:exon11:c.G685A:p.A229T 19q13.2 C3L-00026 . . . . . . . . . 17.19 D D D D D D M . D 0.720 D D D 0.734 0.861 0.615 2.031 T T D D D D 4.007 27.000 0.999 D D 0.893 10.870 0.826 10.934 1.000 0.707 0.702 0.725 0.714 . 5.620 5.620 5.181 1.176 0.676 1.000 1.000 0.997 769 NGN_domain;NusG,_N-terminal;NGN_domain,_eukaryotic . . . SUPT5H 155 0 121 48 0.284023668639053 TRUE TRUE +ENSG00000079435.10 . BCM GRCh38.p13 chr19 42401829 42401829 + A A C Missense_Mutation SNP ENST00000244289.9 exon10 c.T3214G p.C1072G exonic ENSG00000079435.10 . nonsynonymous SNV ENSG00000079435.10:ENST00000244289.9:exon10:c.T3214G:p.C1072G 19q13.2 C3L-00026 . . . . . . . . . 1.18 D . B B . N N T N 0.096 T T T 0.005 0.399 0.438 0.384 T T T T T T 0.934 10.810 0.733 N N -1.401 0.116 -1.444 0.131 1.000 0.564 0.552 0.520 0.619 . 1.990 -3.330 -2.099 -0.727 0.656 0.000 0.000 0.006 560 . . . . LIPE 42 2 36 16 0.307692307692308 TRUE NA +ENSG00000167646.14 . BCM GRCh38.p13 chr19 55159403 55159403 + G G - Frame_Shift_Del DEL ENST00000524407.7 exon12 c.1285delC p.R429Gfs*5 exonic ENSG00000167646.14;ENSG00000267110.1 . frameshift deletion ENSG00000167646.14:ENST00000524407.7:exon12:c.1285delC:p.R429Gfs*5 19q13.42 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAAF3 139 0 83 33 0.28448275862069 TRUE TRUE +ENSG00000101204.17 . BCM GRCh38.p13 chr20 63350022 63350022 + G G - Frame_Shift_Del DEL ENST00000370263.9 exon5 c.1389delC p.R464Gfs*101 exonic ENSG00000101204.17 . frameshift deletion ENSG00000101204.17:ENST00000370263.9:exon5:c.1389delC:p.R464Gfs*101 20q13.33 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHRNA4 28 0 18 10 0.357142857142857 TRUE TRUE +ENSG00000171587.15 . BCM GRCh38.p13 chr21 40144709 40144709 + T T - Frame_Shift_Del DEL ENST00000400454.6 exon17 c.3041delA p.N1014Mfs*9 exonic ENSG00000171587.15 . frameshift deletion ENSG00000171587.15:ENST00000400454.6:exon17:c.3041delA:p.N1014Mfs*9 21q22.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DSCAM 175 0 111 43 0.279220779220779 TRUE TRUE +ENSG00000099991.18 . BCM GRCh38.p13 chr22 24166778 24166778 + G G C Missense_Mutation SNP ENST00000263119.10 exon32 c.G5147C p.G1716A exonic ENSG00000099991.18 . nonsynonymous SNV ENSG00000099991.18:ENST00000263119.10:exon32:c.G5147C:p.G1716A 22q11.23 C3L-00026 . . . . . . . . . 2.20 T T B B N N M T N 0.213 T T D 0.208 0.091 0.489 0.186 T T T T T T 0.727 8.706 0.175 N N -1.092 0.314 -1.012 0.474 1.000 0.672 0.702 0.723 0.636 . 4.610 2.480 1.130 -0.181 -0.833 0.232 0.868 0.107 732 . . . . CABIN1 247 0 181 33 0.154205607476636 TRUE TRUE +ENSG00000197077.13 . BCM GRCh38.p13 chr22 25040014 25040014 + A A T Missense_Mutation SNP ENST00000358431.7 exon3 c.A2884T p.S962C exonic ENSG00000197077.13 . nonsynonymous SNV ENSG00000197077.13:ENST00000358431.7:exon3:c.A2884T:p.S962C 22q11.23 C3L-00026 . . . . . . . . . 6.19 D D D P D N L . D 0.358 T T T 0.132 0.257 0.099 . T T T T D T 2.241 21.200 0.977 N N -0.676 0.853 -0.862 0.671 0.018 0.615 0.590 0.659 0.636 . 4.220 -0.714 0.188 0.321 -0.122 0.017 0.003 0.003 934 . . . . KIAA1671 119 0 74 24 0.244897959183673 TRUE TRUE +ENSG00000100372.15 . BCM GRCh38.p13 chr22 40794553 40794553 + G G T Missense_Mutation SNP ENST00000435456.7 exon3 c.C143A p.T48K exonic ENSG00000100372.15 . nonsynonymous SNV ENSG00000100372.15:ENST00000435456.7:exon3:c.C143A:p.T48K 22q13.2 C3L-00026 . . . . . . . . . 17.20 D D D P D D M T D 0.917 D D D 0.821 0.824 0.953 0.689 D T D D D D 4.328 29.800 0.993 D D 0.786 8.520 0.730 8.364 1.000 0.732 0.744 0.744 0.728 . 4.820 4.820 9.031 1.156 0.672 1.000 1.000 0.998 248 . . . . SLC25A17 168 0 98 40 0.289855072463768 TRUE TRUE +ENSG00000100207.18 . BCM GRCh38.p13 chr22 42213889 42213889 + T T G Missense_Mutation SNP ENST00000359486.7 exon1 c.A1417C p.M473L exonic ENSG00000100207.18 . nonsynonymous SNV ENSG00000100207.18:ENST00000359486.7:exon1:c.A1417C:p.M473L 22q13.2 C3L-00026 . . . . . . . . . 7.18 T T D D D D N T N 0.710 T T T 0.272 0.222 0.123 0.489 D T T T D . 2.612 22.700 0.930 D . 0.435 4.567 0.528 5.428 1.000 0.707 0.725 0.725 0.636 . 6.170 6.170 4.595 1.138 0.665 1.000 1.000 1.000 133 . . . . TCF20 295 0 197 81 0.29136690647482 TRUE TRUE +ENSG00000186951.16 . BCM GRCh38.p13 chr22 46219829 46219829 + A A G Missense_Mutation SNP ENST00000407236.5 exon6 c.A526G p.M176V exonic ENSG00000186951.16 . nonsynonymous SNV ENSG00000186951.16:ENST00000407236.5:exon6:c.A526G:p.M176V 22q13.31 C3L-00026 . . . . . . . . . 13.20 T T B B D D M D N 0.742 D D D 0.646 0.322 0.933 . T T D D D D 2.487 22.400 0.880 D D 0.186 3.240 0.290 3.658 1.000 0.615 0.000 0.659 0.655 . 5.510 5.510 9.241 1.307 0.751 1.000 0.991 0.962 901 . . . . PPARA 295 0 222 95 0.299684542586751 TRUE TRUE +ENSG00000075275.17 . BCM GRCh38.p13 chr22 46365288 46365288 + C C T Missense_Mutation SNP ENST00000262738.8 exon32 c.G8497A p.V2833M exonic ENSG00000075275.17 . nonsynonymous SNV ENSG00000075275.17:ENST00000262738.8:exon32:c.G8497A:p.V2833M 22q13.31 C3L-00026 2.517e-05 0.0003 0 0 0 0 0 0 rs774171527 0.20 T T B B U N L T N 0.190 T T T 0.069 0.119 0.436 0.177 T T T T T T 0.603 7.540 0.757 N N -0.835 0.605 -0.904 0.615 0.998 0.696 0.547 0.723 0.605 . 4.350 1.030 0.069 1.019 0.541 0.000 0.002 0.006 964 . . . . CELSR1 89 0 75 34 0.311926605504587 TRUE NA +ENSG00000100239.16 . BCM GRCh38.p13 chr22 50437874 50437874 + T T C Missense_Mutation SNP ENST00000216061.9 exon18 c.T1813C p.F605L exonic ENSG00000100239.16 . nonsynonymous SNV ENSG00000100239.16:ENST00000216061.9:exon18:c.T1813C:p.F605L 22q13.33 C3L-00026 . . . . . . . . . 13.20 D D D D D D M T D 0.630 T T D 0.267 0.318 0.187 1.272 T T T T D D 4.048 27.300 0.998 D D 0.455 4.702 0.403 4.377 1.000 0.707 0.702 0.723 0.714 . 5.580 5.580 2.853 1.138 0.609 1.000 0.573 0.347 819 . . . . PPP6R2 146 1 120 46 0.27710843373494 TRUE TRUE +ENSG00000047597.7 . BCM GRCh38.p13 chrX 37728113 37728113 + C C T Missense_Mutation SNP ENST00000378616.5 exon3 c.C986T p.A329V exonic ENSG00000047597.7 . nonsynonymous SNV ENSG00000047597.7:ENST00000378616.5:exon3:c.C986T:p.A329V Xp21.1 C3L-00026 . . . . . . . . . 5.19 T T B B D D L T N 0.421 T T D 0.166 0.433 0.913 0.910 T T T T T D 1.452 15.430 0.856 D . . . . . 1.000 . . . . . 5.570 5.570 3.057 1.026 0.599 0.503 0.986 0.998 843 . . . . XK 302 0 148 103 0.410358565737052 TRUE TRUE +ENSG00000067445.21 . BCM GRCh38.p13 chrX 54930263 54930263 + G G A Missense_Mutation SNP ENST00000173898.12 exon12 c.G3539A p.S1180N exonic ENSG00000067445.21 . nonsynonymous SNV ENSG00000067445.21:ENST00000173898.12:exon12:c.G3539A:p.S1180N Xp11.21 C3L-00026 . . . . . . . . . 4.18 T D D D . N L T N 0.499 T T T 0.101 0.238 0.341 0.631 T T T T T T 2.057 19.690 0.991 D . . . . . 0.023 . . . . . 3.290 2.400 3.165 1.070 0.652 0.227 0.985 0.984 203 . . . . TRO 154 0 95 5 0.05 TRUE NA +ENSG00000184675.11 . BCM GRCh38.p13 chrX 64190693 64190693 + C C G Missense_Mutation SNP ENST00000374869.8 exon2 c.G2594C p.G865A exonic ENSG00000184675.11 . nonsynonymous SNV ENSG00000184675.11:ENST00000374869.8:exon2:c.G2594C:p.G865A Xq11.2 C3L-00026 . . . . . . . . . 8.18 D D D P . D L T N 0.642 T T T 0.247 0.520 0.784 0.194 T T D D D T 3.095 23.600 0.997 D . . . . . 1.000 . . . . . 4.790 4.790 4.315 1.026 0.599 1.000 1.000 0.999 15 . . . . AMER1 331 0 121 82 0.403940886699507 TRUE TRUE +ENSG00000188419.14 . BCM GRCh38.p13 chrX 85956312 85956312 + A A T Missense_Mutation SNP ENST00000357749.7 exon8 c.T1007A p.I336N exonic ENSG00000188419.14 . nonsynonymous SNV ENSG00000188419.14:ENST00000357749.7:exon8:c.T1007A:p.I336N Xq21.2 C3L-00026 . . . . . . . . . 13.19 D D B B D D L D N 0.677 D D D 0.687 0.730 0.917 0.598 T D D T D D 2.956 23.300 0.984 D . . . . . 1.000 . . . . . 4.380 4.380 8.080 1.127 0.665 1.000 0.998 0.965 949 . . . . CHM 359 0 112 80 0.416666666666667 TRUE TRUE +ENSG00000165376.11 . BCM GRCh38.p13 chrX 106928838 106928838 + G G C Missense_Mutation SNP ENST00000336803.1 exon2 c.G610C p.A204P exonic ENSG00000165376.11 . nonsynonymous SNV ENSG00000165376.11:ENST00000336803.1:exon2:c.G610C:p.A204P Xq22.3 C3L-00026 . . . . . . . . . 3.19 T T B B N D N D N 0.098 T T D 0.232 0.241 0.822 0.694 T T T T T T 1.391 15.020 0.991 N . . . . . 1.000 . . . . . 4.710 2.770 1.371 1.176 0.676 0.029 0.999 0.998 404 . . . . CLDN2 185 0 123 9 0.0681818181818182 TRUE TRUE +ENSG00000146776.14 . BCM GRCh38.p13 chr7 105875881 105875881 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000146776.14 ENST00000419735.7:exon2:c.182-1G>A . . 7q22.3 C3L-00026 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.974 35 0.995 D . 1.164 20.953 1.032 20.941 1.000 0.073 0.085 0.101 0.091 0.982 5.820 5.820 6.292 0.952 0.599 1.000 1.000 1.000 715 . . . . ATXN7L1 228 0 261 25 0.0874125874125874 TRUE TRUE +ENSG00000067798.16 . BCM GRCh38.p13 chr12 77941135 77941135 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000067798.16 ENST00000397909.7:exon3:c.414+2T>C . . 12q21.2 C3L-00026 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.361 34 0.995 D . 1.127 18.768 0.984 17.896 1.000 0.120 0.063 0.060 0.162 0.969 5.560 5.560 7.784 1.138 0.654 1.000 1.000 0.998 922 . . . . NAV3 66 0 63 8 0.112676056338028 TRUE TRUE +ENSG00000188976.11 . BCM GRCh38.p13 chr1 957258 957258 + A A T Silent SNP ENST00000327044.7 exon3 c.T195A p.R65R exonic ENSG00000188976.11 . synonymous SNV ENSG00000188976.11:ENST00000327044.7:exon3:c.T195A:p.R65R 1p36.33 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOC2L 111 0 89 42 0.320610687022901 TRUE TRUE +ENSG00000116266.11 . BCM GRCh38.p13 chr1 108760031 108760031 + G G A Silent SNP ENST00000370008.4 exon6 c.G384A p.K128K exonic ENSG00000116266.11 . synonymous SNV ENSG00000116266.11:ENST00000370008.4:exon6:c.G384A:p.K128K 1p13.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STXBP3 160 0 101 31 0.234848484848485 TRUE TRUE +ENSG00000152092.16 . BCM GRCh38.p13 chr1 176876586 176876586 + G G A Silent SNP ENST00000361833.7 exon21 c.C3414T p.D1138D exonic ENSG00000152092.16 . synonymous SNV ENSG00000152092.16:ENST00000361833.7:exon21:c.C3414T:p.D1138D 1q25.2 C3L-00026 1.649e-05 0 0 0 0 2.998e-05 0 0 rs754147184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62500061;OCCURENCE=2(pancreas) ASTN1 159 0 112 53 0.321212121212121 TRUE TRUE +ENSG00000162702.8 . BCM GRCh38.p13 chr1 200408947 200408947 + G G A Silent SNP ENST00000367353.2 exon2 c.C759T p.I253I exonic ENSG00000162702.8 . synonymous SNV ENSG00000162702.8:ENST00000367353.2:exon2:c.C759T:p.I253I 1q32.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF281 268 0 156 84 0.35 TRUE NA +ENSG00000118200.14 . BCM GRCh38.p13 chr1 200858026 200858026 + A A G Silent SNP ENST00000236925.8 exon18 c.A4437G p.V1479V exonic ENSG00000118200.14 . synonymous SNV ENSG00000118200.14:ENST00000236925.8:exon18:c.A4437G:p.V1479V 1q32.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMSAP2 87 0 66 26 0.282608695652174 TRUE TRUE +ENSG00000055332.18 . BCM GRCh38.p13 chr2 37146973 37146973 + C C T Silent SNP ENST00000233057.9 exon4 c.G120A p.R40R exonic ENSG00000055332.18 . synonymous SNV ENSG00000055332.18:ENST00000233057.9:exon4:c.G120A:p.R40R 2p22.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF2AK2 99 0 69 23 0.25 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178588611 178588611 + G G C Silent SNP ENST00000591111.5 exon254 c.C58191G p.V19397V exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon254:c.C58191G:p.V19397V 2q31.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 30 0 41 15 0.267857142857143 TRUE TRUE +ENSG00000075651.16 . BCM GRCh38.p13 chr3 171676784 171676784 + G G A Silent SNP ENST00000351298.9 exon18 c.C2046T p.A682A exonic ENSG00000075651.16 . synonymous SNV ENSG00000075651.16:ENST00000351298.9:exon18:c.C2046T:p.A682A 3q26.31 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLD1 207 1 156 36 0.1875 TRUE NA +ENSG00000043093.15 . BCM GRCh38.p13 chr3 182965739 182965739 + T T C Silent SNP ENST00000292782.9 exon2 c.A18G p.S6S exonic ENSG00000043093.15 . synonymous SNV ENSG00000043093.15:ENST00000292782.9:exon2:c.A18G:p.S6S 3q26.33 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCUN1D1 100 0 91 30 0.247933884297521 NA TRUE +ENSG00000164142.16 . BCM GRCh38.p13 chr4 151662676 151662676 + G G A Silent SNP ENST00000435205.6 exon14 c.G3045A p.K1015K exonic ENSG00000164142.16 . synonymous SNV ENSG00000164142.16:ENST00000435205.6:exon14:c.G3045A:p.K1015K 4q31.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV104715769;OCCURENCE=1(skin) FAM160A1 204 0 141 44 0.237837837837838 TRUE TRUE +ENSG00000196260.5 . BCM GRCh38.p13 chr6 30931569 30931569 + G G A Silent SNP ENST00000359086.4 exon3 c.C156T p.C52C exonic ENSG00000196260.5 . synonymous SNV ENSG00000196260.5:ENST00000359086.4:exon3:c.C156T:p.C52C 6p21.33 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SFTA2 62 0 44 23 0.343283582089552 TRUE NA +ENSG00000015520.14 . BCM GRCh38.p13 chr7 44521015 44521015 + C C T Silent SNP ENST00000289547.8 exon13 c.G3057A p.R1019R exonic ENSG00000015520.14 . synonymous SNV ENSG00000015520.14:ENST00000289547.8:exon13:c.G3057A:p.R1019R 7p13 C3L-00026 4.118e-05 0 0 0 0 7.492e-05 0 0 rs142671854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPC1L1 429 0 583 56 0.0876369327073552 TRUE NA +ENSG00000166105.16 . BCM GRCh38.p13 chr11 134277826 134277826 + C C A Silent SNP ENST00000431683.7 exon3 c.C276A p.G92G exonic ENSG00000166105.16 . synonymous SNV ENSG00000166105.16:ENST00000431683.7:exon3:c.C276A:p.G92G 11q25 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66281120;OCCURENCE=1(large_intestine) GLB1L3 196 0 175 20 0.102564102564103 TRUE TRUE +ENSG00000111231.9 . BCM GRCh38.p13 chr12 110457558 110457558 + G G T Silent SNP ENST00000228827.8 exon4 c.C402A p.V134V exonic ENSG00000111231.9 . synonymous SNV ENSG00000111231.9:ENST00000228827.8:exon4:c.C402A:p.V134V 12q24.11 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPN3 127 0 84 43 0.338582677165354 TRUE TRUE +ENSG00000139946.10 . BCM GRCh38.p13 chr14 56178449 56178449 + G G A Silent SNP ENST00000267460.9 exon2 c.G192A p.T64T exonic ENSG00000139946.10 . synonymous SNV ENSG00000139946.10:ENST00000267460.9:exon2:c.G192A:p.T64T 14q22.3 C3L-00026 2.472e-05 0 0.0002 0 0 0 0 6.057e-05 rs774793723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PELI2 167 1 132 41 0.236994219653179 TRUE NA +ENSG00000137841.12 . BCM GRCh38.p13 chr15 40299223 40299223 + G G A Silent SNP ENST00000260402.8 exon8 c.C588T p.D196D exonic ENSG00000137841.12 . synonymous SNV ENSG00000137841.12:ENST00000260402.8:exon8:c.C588T:p.D196D 15q15.1 C3L-00026 0.0001 0 0.0007 0.0005 0 2.999e-05 0 0 rs147429604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCB2 99 0 65 30 0.315789473684211 TRUE NA +ENSG00000104133.15 . BCM GRCh38.p13 chr15 44584316 44584316 + C C T Silent SNP ENST00000261866.12 exon30 c.G5364A p.V1788V exonic ENSG00000104133.15 . synonymous SNV ENSG00000104133.15:ENST00000261866.12:exon30:c.G5364A:p.V1788V 15q21.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPG11 74 0 38 8 0.173913043478261 TRUE TRUE +ENSG00000156222.12 . BCM GRCh38.p13 chr15 84935119 84935119 + G G A Silent SNP ENST00000394573.6 exon14 c.G1308A p.L436L exonic ENSG00000156222.12 . synonymous SNV ENSG00000156222.12:ENST00000394573.6:exon14:c.G1308A:p.L436L 15q25.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC28A1 426 0 263 107 0.289189189189189 TRUE TRUE +ENSG00000153443.13 . BCM GRCh38.p13 chr16 4609828 4609828 + A A G Silent SNP ENST00000283474.12 exon3 c.T339C p.H113H exonic ENSG00000153443.13 . synonymous SNV ENSG00000153443.13:ENST00000283474.12:exon3:c.T339C:p.H113H 16p13.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBALD1 11 0 15 5 0.25 TRUE NA +ENSG00000102996.5 . BCM GRCh38.p13 chr16 58045300 58045300 + C C A Silent SNP ENST00000219271.4 exon10 c.C1864A p.R622R exonic ENSG00000102996.5 . synonymous SNV ENSG00000102996.5:ENST00000219271.4:exon10:c.C1864A:p.R622R 16q21 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP15 240 1 256 58 0.184713375796178 TRUE TRUE +ENSG00000154914.17 . BCM GRCh38.p13 chr17 9712083 9712083 + G G A Silent SNP ENST00000285199.12 exon14 c.G2286A p.Q762Q exonic ENSG00000154914.17 . synonymous SNV ENSG00000154914.17:ENST00000285199.12:exon14:c.G2286A:p.Q762Q 17p13.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP43 94 0 62 26 0.295454545454545 TRUE TRUE +ENSG00000091536.19 . BCM GRCh38.p13 chr17 18131498 18131498 + G G A Silent SNP ENST00000647165.2 exon10 c.G4173A p.Q1391Q exonic ENSG00000091536.19 . synonymous SNV ENSG00000091536.19:ENST00000647165.2:exon10:c.G4173A:p.Q1391Q 17p11.2 C3L-00026 . . . . . . . . rs759870345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO15A 316 0 323 36 0.100278551532033 TRUE NA +ENSG00000171302.17 . BCM GRCh38.p13 chr17 78997536 78997536 + C C T Silent SNP ENST00000392446.10 exon3 c.G87A p.A29A exonic ENSG00000171302.17 . synonymous SNV ENSG00000171302.17:ENST00000392446.10:exon3:c.G87A:p.A29A 17q25.3 C3L-00026 0.0001 0.0008 0.0001 0.0002 0 2.384e-05 0 0 rs151134512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CANT1 23 0 16 3 0.157894736842105 TRUE NA +ENSG00000076826.9 . BCM GRCh38.p13 chr19 7612563 7612563 + G G A Silent SNP ENST00000160298.8 exon11 c.G2070A p.P690P exonic ENSG00000076826.9 . synonymous SNV ENSG00000076826.9:ENST00000160298.8:exon11:c.G2070A:p.P690P 19p13.2 C3L-00026 . . . . . . . . rs999228829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMSAP3 76 0 72 28 0.28 TRUE NA +ENSG00000261221.3 . BCM GRCh38.p13 chr19 55615220 55615220 + G G A Silent SNP ENST00000568956.1 exon2 c.G1602A p.G534G exonic ENSG00000261221.3 . synonymous SNV ENSG00000261221.3:ENST00000568956.1:exon2:c.G1602A:p.G534G 19q13.42 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF865 29 0 39 11 0.22 TRUE TRUE +ENSG00000101343.14 . BCM GRCh38.p13 chr20 20047880 20047880 + C C T Silent SNP ENST00000377340.6 exon6 c.G990A p.R330R exonic ENSG00000101343.14 . synonymous SNV ENSG00000101343.14:ENST00000377340.6:exon6:c.G990A:p.R330R 20p11.23 C3L-00026 8.239e-06 9.612e-05 0 0 0 0 0 0 rs748786848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRNKL1 140 0 119 28 0.19047619047619 TRUE NA +ENSG00000124155.18 . BCM GRCh38.p13 chr20 45416665 45416665 + G G A Silent SNP ENST00000279036.12 exon2 c.G336A p.L112L exonic ENSG00000124155.18 . synonymous SNV ENSG00000124155.18:ENST00000279036.12:exon2:c.G336A:p.L112L 20q13.12 C3L-00026 . . . . . . . . . 2.3 . . . . . D . . . . . . . . . . . . . . . . . 1.329 14.600 0.786 D N . . . . 1.000 0.543 0.522 0.686 0.639 . 5.950 2.930 1.859 0.129 -0.172 1.000 1.000 0.995 921 . . . ID=COSV54127553;OCCURENCE=1(large_intestine) PIGT 88 1 66 28 0.297872340425532 TRUE TRUE +ENSG00000182871.16 . BCM GRCh38.p13 chr21 45455695 45455695 + G G A Silent SNP ENST00000359759.8 exon1 c.G165A p.Q55Q exonic ENSG00000182871.16 . synonymous SNV ENSG00000182871.16:ENST00000359759.8:exon1:c.G165A:p.Q55Q 21q22.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL18A1 196 0 129 60 0.317460317460317 TRUE TRUE +ENSG00000183690.13 . BCM GRCh38.p13 chrX 44248875 44248875 + A A G Silent SNP ENST00000420999.2 exon6 c.T900C p.D300D exonic ENSG00000183690.13 . synonymous SNV ENSG00000183690.13:ENST00000420999.2:exon6:c.T900C:p.D300D Xp11.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFHC2 95 0 82 8 0.0888888888888889 TRUE TRUE +ENSG00000142599.19 . BCM GRCh38.p13 chr1 8380793 8380793 + A A T Intron SNP NA NA NA NA intronic ENSG00000142599.19 . . . 1p36.23 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RERE 121 0 86 34 0.283333333333333 TRUE NA +ENSG00000143321.19 . BCM GRCh38.p13 chr1 156752242 156752242 + G G A 5'Flank SNP NA NA NA NA upstream ENSG00000143321.19 dist=567 . . 1q23.1 C3L-00026 . . . . . . . . . 1.15 T D . . U N . T N 0.094 T T T 0.017 0.329 0.230 0.428 . . T T T T 1.186 13.520 0.987 N N -0.865 0.565 -0.976 0.519 1.000 0.442 0.484 0.522 0.250 . 2.250 1.290 0.152 0.828 0.596 0.000 0.017 0.062 512 . . . . HDGF 154 0 119 61 0.338888888888889 TRUE TRUE +ENSG00000168874.13 . BCM GRCh38.p13 chr2 85772653 85772653 + A A G Intron SNP NA NA NA NA intronic ENSG00000168874.13 . . . 2p11.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATOH8 104 0 90 38 0.296875 TRUE NA +ENSG00000175161.13 . BCM GRCh38.p13 chr3 85726522 85726522 + C C T Intron SNP NA NA NA NA intronic ENSG00000175161.13 . . . 3p12.1 C3L-00026 . . . . . . . . rs889027373 2.16 T T B B N D . T N 0.284 T T T 0.048 0.387 0.276 0.408 . . T T D . 2.316 21.700 0.768 N N -0.197 1.884 0.015 2.410 1.000 0.487 0.574 0.574 0.564 . 5.770 5.770 2.311 1.022 0.545 1.000 0.996 0.946 643 . . . . CADM2 145 0 124 28 0.184210526315789 TRUE NA +ENSG00000074211.14 . BCM GRCh38.p13 chr4 6381158 6381158 + A A T Intron SNP NA NA NA NA intronic ENSG00000074211.14 . . . 4p16.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP2R2C 203 0 150 53 0.261083743842365 TRUE NA +ENSG00000145741.15 . BCM GRCh38.p13 chr5 73499267 73499268 + TT TT - Intron DEL NA NA NA NA intronic ENSG00000145741.15 . . . 5q13.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BTF3 158 0 119 41 0.25625 TRUE NA +ENSG00000130396.20 . BCM GRCh38.p13 chr6 167913409 167913409 + G G A Intron SNP NA NA NA NA intronic ENSG00000130396.20 . . . 6q27 C3L-00026 . . . . . . . . . 6.15 T T . . . D . T N 0.433 T T D 0.165 0.309 0.701 . . T T T D D 1.928 18.710 0.994 D D 0.490 4.956 0.577 5.948 1.000 0.707 0.546 0.609 0.714 . 5.570 5.570 7.066 1.146 0.676 1.000 1.000 1.000 . Dilute_domain;Afadin,_cargo_binding_domain . . . AFDN 116 0 76 46 0.377049180327869 TRUE TRUE +ENSG00000197558.13 . BCM GRCh38.p13 chr7 149790323 149790323 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000197558.13 . . . 7q36.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSPO 40 0 50 15 0.230769230769231 TRUE TRUE +ENSG00000182648.13 . BCM GRCh38.p13 chr7 156640528 156640528 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000182648.13 . . . 7q36.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01006 28 0 42 15 0.263157894736842 TRUE NA +ENSG00000175606.11 . BCM GRCh38.p13 chr8 73976205 73976205 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000175606.11 ENST00000312184.6:c.-77C>T . . 8q21.11 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM70 122 0 87 47 0.350746268656716 TRUE NA +ENSG00000008394.13 . BCM GRCh38.p13 chr12 16376129 16376129 + C C A IGR SNP NA NA NA NA intergenic ENSG00000008394.13;ENSG00000256238.1 dist=11719;dist=23145 . . 12p12.3 C3L-00026 . . . . . . . . . 1.13 T D . . . N . . N 0.083 T T T 0.040 0.404 0.138 . . . T T T T -0.404 0.189 0.502 N N -1.168 0.250 -1.346 0.181 0.003 0.554 0.574 0.547 0.621 . 2.720 -1.440 -0.103 -0.013 -0.235 0.003 0.011 0.015 865 . . . . MGST1 50 0 53 4 0.0701754385964912 TRUE TRUE +ENSG00000122386.10 . BCM GRCh38.p13 chr16 3112399 3112399 + C C G 5'Flank SNP NA NA NA NA upstream ENSG00000122386.10;ENSG00000263072.8 dist=180;dist=180 . . 16p13.3 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF205 96 1 97 37 0.276119402985075 TRUE NA +ENSG00000168101.14 . BCM GRCh38.p13 chr16 4694533 4694533 + A A T Intron SNP NA NA NA NA intronic ENSG00000168101.14 . . . 16p13.3 C3L-00026 . . . . . . . . . 0.11 . . P B . N . . . 0.109 T T T 0.033 0.285 0.253 . . . T T T T 0.603 7.545 0.936 N . -0.862 0.569 -1.074 0.403 1.000 0.443 0.484 0.666 0.619 . 1.300 -2.470 -3.036 -0.399 -0.156 0.000 0.144 0.244 745 . . . . NUDT16L1 30 0 25 12 0.324324324324324 TRUE TRUE +ENSG00000180035.13 . BCM GRCh38.p13 chr16 30395274 30395274 + C C G 5'Flank SNP NA NA NA NA upstream ENSG00000180035.13 dist=145 . . 16p11.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF48 106 0 176 40 0.185185185185185 TRUE NA +ENSG00000186187.12 . BCM GRCh38.p13 chr16 75095611 75095611 + A A C Intron SNP NA NA NA NA intronic ENSG00000186187.12 . . . 16q23.1 C3L-00026 . . . . . . . . . 3.16 T D B B N D . . N 0.152 T T T 0.036 0.517 0.043 . . . T T D T 1.462 15.490 0.972 N N -0.661 0.880 -0.575 1.085 0.733 0.554 0.588 0.468 0.714 . 3.850 1.680 0.576 -0.082 0.756 0.810 0.171 0.404 721 . . . . ZNRF1 65 1 79 16 0.168421052631579 TRUE NA +ENSG00000124422.12 . BCM GRCh38.p13 chr17 21043695 21043695 + C C T 5'Flank SNP NA NA NA NA upstream ENSG00000124422.12 dist=684 . . 17p11.2 C3L-00026 . . . . . . . . rs968474274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP22 58 0 33 31 0.484375 TRUE NA +ENSG00000100219.16 . BCM GRCh38.p13 chr22 28795435 28795435 + - NA T 3'UTR SNP NA NA NA NA UTR3 ENSG00000100219.16 ENST00000216037.10:c.*110_*111insA . . 22q12.1 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XBP1 NA NA NA NA NA NA NA +ENSG00000268812.3 . BCM GRCh38.p13 chr22 30246742 30246742 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000268812.3 . . . 22q12.2 C3L-00026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50776552;OCCURENCE=2(large_intestine) AC004264.1 386 0 236 111 0.319884726224784 TRUE NA +ENSG00000280195.1 . BCM GRCh38.p13 chrX 154398413 154398413 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000280195.1 . . . Xq28 C3L-00026 3.447e-05 0 0 0 0 4.215e-05 0 9.886e-05 rs782378623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC245140.2 471 1 183 136 0.426332288401254 TRUE NA +ENSG00000048707.15 . BCM GRCh38.p13 chr1 12277925 12277925 + G G A Missense_Mutation SNP ENST00000620676.6 exon19 c.G4337A p.G1446E exonic ENSG00000048707.15 . nonsynonymous SNV ENSG00000048707.15:ENST00000620676.6:exon19:c.G4337A:p.G1446E 1p36.22 C3L-00079 . . . . . . . . . 1.17 . T P B N N L . . 0.341 T T T 0.150 0.305 0.043 . T T T T T T 1.338 14.660 0.952 D N -0.342 1.513 -0.312 1.540 0.612 0.707 0.725 0.679 0.714 . 6.160 4.230 1.644 1.176 0.671 0.905 0.784 0.764 684 . . . . VPS13D 218 1 197 35 0.150862068965517 TRUE NA +ENSG00000121904.17 . BCM GRCh38.p13 chr1 33572625 33572625 + C C T Missense_Mutation SNP ENST00000373388.6 exon51 c.G7649A p.G2550E exonic ENSG00000121904.17 . nonsynonymous SNV ENSG00000121904.17:ENST00000373388.6:exon51:c.G7649A:p.G2550E 1p35.1 C3L-00079 . . . . . . . . . 16.20 D D P P D D M T D 0.984 D D D 0.723 0.822 0.790 . D T D D D D 3.263 24.000 0.997 D D 0.703 7.156 0.722 8.184 1.000 0.615 0.563 0.659 0.564 . 5.650 5.650 7.905 1.026 0.549 1.000 0.999 0.983 427 Sushi/SCR/CCP_domain . . ID=COSV53907800;OCCURENCE=1(skin) CSMD2 210 0 146 28 0.160919540229885 TRUE TRUE +ENSG00000168389.18 . BCM GRCh38.p13 chr1 39957118 39957118 + C C G Missense_Mutation SNP ENST00000372809.5 exon2 c.C125G p.S42C exonic ENSG00000168389.18 . nonsynonymous SNV ENSG00000168389.18:ENST00000372809.5:exon2:c.C125G:p.S42C 1p34.2 C3L-00079 . . . . . . . . . 12.19 D D D P D D M . D 0.458 T T T 0.347 0.540 0.043 1.344 T T D T D D 3.631 25.100 0.990 D D 0.490 4.962 0.492 5.090 1.000 0.745 0.672 0.732 0.669 . 4.860 4.860 7.489 1.026 0.599 1.000 0.999 0.972 202 . . . . MFSD2A 210 0 192 12 0.0588235294117647 TRUE TRUE +ENSG00000222009.8 . BCM GRCh38.p13 chr1 44813268 44813268 + C C T Missense_Mutation SNP ENST00000450269.5 exon6 c.C614T p.A205V exonic ENSG00000222009.8 . nonsynonymous SNV ENSG00000222009.8:ENST00000450269.5:exon6:c.C614T:p.A205V 1p34.1 C3L-00079 . . . . . . . . . 9.19 D T D D . D L T D 0.159 T T D 0.181 0.364 0.181 . T T T T D D 4.142 28.100 0.999 D N 0.425 4.502 0.391 4.292 1.000 0.490 0.551 0.504 0.662 . 4.850 3.920 2.117 1.026 0.599 0.823 0.996 0.989 0 BTB/Kelch-associated . . . BTBD19 102 0 116 10 0.0793650793650794 TRUE NA +ENSG00000116641.18 . BCM GRCh38.p13 chr1 62538006 62538006 + A A T Missense_Mutation SNP ENST00000635253.2 exon28 c.T3356A p.L1119Q exonic ENSG00000116641.18 . nonsynonymous SNV ENSG00000116641.18:ENST00000635253.2:exon28:c.T3356A:p.L1119Q 1p31.3 C3L-00079 . . . . . . . . . 16.20 D D D D D D M T D 0.970 T T D 0.709 0.604 0.917 1.185 T D D D D D 4.254 29.200 0.996 D D 0.807 8.924 0.778 9.491 1.000 0.732 0.654 0.688 0.728 . 5.240 5.240 9.252 1.203 0.756 1.000 0.998 0.985 841 . . . . DOCK7 163 0 116 31 0.210884353741497 TRUE TRUE +ENSG00000184588.18 . BCM GRCh38.p13 chr1 66257664 66257664 + T T - Frame_Shift_Del DEL ENST00000329654.8 exon5 c.494delT p.I165Mfs*2 exonic ENSG00000184588.18 . frameshift deletion ENSG00000184588.18:ENST00000329654.8:exon5:c.494delT:p.I165Mfs*2 1p31.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE4B 234 0 167 50 0.230414746543779 TRUE TRUE +ENSG00000122406.14 . BCM GRCh38.p13 chr1 92837485 92837485 + A A - Frame_Shift_Del DEL ENST00000370321.8 exon6 c.557delA p.S187Afs*25 exonic ENSG00000122406.14 . frameshift deletion ENSG00000122406.14:ENST00000370321.8:exon6:c.557delA:p.S187Afs*25 1p22.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPL5 362 0 269 40 0.129449838187702 TRUE TRUE +ENSG00000198691.13 . BCM GRCh38.p13 chr1 94007673 94007673 + G G C Missense_Mutation SNP ENST00000370225.4 exon43 c.C5966G p.T1989S exonic ENSG00000198691.13 . nonsynonymous SNV ENSG00000198691.13:ENST00000370225.4:exon43:c.C5966G:p.T1989S 1p22.1 C3L-00079 . . . . . . . . . 7.20 T T B B N D L D N 0.357 T D D 0.321 0.560 0.880 0.104 T D D T T T 2.261 21.300 0.973 D N -0.332 1.537 -0.173 1.852 0.996 0.625 0.590 0.577 0.595 . 4.740 2.710 1.849 1.176 0.676 0.977 1.000 0.997 401 ABC_transporter-like;AAA+_ATPase_domain . . . ABCA4 443 0 342 65 0.15970515970516 TRUE TRUE +ENSG00000163554.15 . BCM GRCh38.p13 chr1 158678418 158678418 + G G C Missense_Mutation SNP ENST00000643759.2 exon6 c.C795G p.N265K exonic ENSG00000163554.15 . nonsynonymous SNV ENSG00000163554.15:ENST00000643759.2:exon6:c.C795G:p.N265K 1q23.1 C3L-00079 . . . . . . . . . 4.20 D D B B N N N T N 0.275 T T T 0.067 0.472 0.446 0.035 T T T T T D 1.174 13.430 0.987 D N -0.578 1.028 -0.415 1.345 0.028 0.487 0.574 0.574 0.564 . 4.660 3.740 0.800 0.222 0.676 1.000 0.975 0.140 637 . . . . SPTA1 519 0 377 21 0.0527638190954774 TRUE NA +ENSG00000143502.15 . BCM GRCh38.p13 chr1 223223471 223223471 + C C T Missense_Mutation SNP ENST00000366878.9 exon8 c.G1222A p.D408N exonic ENSG00000143502.15 . nonsynonymous SNV ENSG00000143502.15:ENST00000366878.9:exon8:c.G1222A:p.D408N 1q41 C3L-00079 5.178e-05 0 0 0.0006 0 1.557e-05 0 0 rs369486252 8.20 D D D B D D L T N 0.329 T T T 0.135 0.090 0.199 0.479 T T T T T D 3.170 23.800 0.999 D D 0.351 4.055 0.412 4.443 0.999 0.615 0.574 0.659 0.542 . 5.160 5.160 4.790 0.947 0.599 1.000 0.851 0.824 840 . . . . SUSD4 104 0 90 15 0.142857142857143 TRUE NA +ENSG00000198626.17 . BCM GRCh38.p13 chr1 237511694 237511694 + G G C Missense_Mutation SNP ENST00000366574.7 exon24 c.G2725C p.D909H exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon24:c.G2725C:p.D909H 1q43 C3L-00079 . . . . . . . . . 19.19 D . D D D D M D D 0.756 D D D 0.879 0.825 0.926 1.216 D D D D D D 4.363 31 0.997 D D 0.993 13.699 0.937 15.413 1.000 0.554 0.547 0.618 0.564 . 5.440 5.440 9.977 1.176 0.676 1.000 1.000 0.992 933 Ryanodine_receptor_Ryr . . . RYR2 190 0 208 15 0.0672645739910314 TRUE TRUE +ENSG00000162711.17 . BCM GRCh38.p13 chr1 247419029 247419029 + A A C Missense_Mutation SNP ENST00000336119.7 exon1 c.A235C p.N79H exonic ENSG00000162711.17 . nonsynonymous SNV ENSG00000162711.17:ENST00000336119.7:exon1:c.A235C:p.N79H 1q44 C3L-00079 . . . . . . . . . 4.19 T T P P D N . T N 0.690 T T D 0.229 0.727 0.924 0.531 T T T T D T 2.700 22.800 0.992 D N 0.074 2.784 0.139 2.898 1.000 0.487 0.547 0.547 0.564 . 4.490 3.370 2.827 1.278 0.756 1.000 0.949 0.753 895 DAPIN_domain . . . NLRP3 406 0 326 24 0.0685714285714286 TRUE TRUE +ENSG00000169214.4 . BCM GRCh38.p13 chr1 247712730 247712730 + G G C Missense_Mutation SNP ENST00000641470.1 exon3 c.C26G p.P9R exonic ENSG00000169214.4 . nonsynonymous SNV ENSG00000169214.4:ENST00000641470.1:exon3:c.C26G:p.P9R 1q44 C3L-00079 . . . . . . . . . 1.20 T D B B N N N T N 0.109 T T T 0.047 0.504 0.191 0.131 T T T T T T 0.830 9.693 0.848 N N -1.277 0.178 -1.380 0.162 0.000 0.487 0.574 0.574 0.564 . 3.870 -3.240 -0.305 -0.684 -0.299 0.000 0.065 0.010 952 . . . . OR6F1 81 0 56 5 0.0819672131147541 TRUE TRUE +ENSG00000115464.15 . BCM GRCh38.p13 chr2 61221580 61221580 + C C G Missense_Mutation SNP ENST00000398571.7 exon66 c.G7821C p.L2607F exonic ENSG00000115464.15 . nonsynonymous SNV ENSG00000115464.15:ENST00000398571.7:exon66:c.G7821C:p.L2607F 2p15 C3L-00079 . . . . . . . . . 15.20 D D D D D D L T D 0.834 T D D 0.547 0.251 0.680 . D T D D D D 3.318 24.200 0.998 D N 0.221 3.399 0.187 3.122 1.000 0.732 0.725 0.688 0.728 . 6.070 2.760 0.242 0.114 -0.313 0.982 1.000 0.990 281 . . . . USP34 127 0 84 6 0.0666666666666667 TRUE TRUE +ENSG00000087338.5 . BCM GRCh38.p13 chr2 69839529 69839529 + C C T Missense_Mutation SNP ENST00000282570.4 exon3 c.C457T p.P153S exonic ENSG00000087338.5 . nonsynonymous SNV ENSG00000087338.5:ENST00000282570.4:exon3:c.C457T:p.P153S 2p13.3 C3L-00079 . . . . . . . . . 11.19 D T D P D D . T D 0.642 T T D 0.342 0.397 0.872 0.550 T D T T D D 3.285 24.100 0.999 D D 0.635 6.297 0.636 6.706 1.000 0.563 0.654 0.670 0.568 . 4.860 4.860 7.292 1.008 0.544 1.000 1.000 0.999 583 BTB/POZ_domain . . . GMCL1 152 0 91 12 0.116504854368932 TRUE TRUE +ENSG00000241755.1 . BCM GRCh38.p13 chr2 89010447 89010447 + C C G Missense_Mutation SNP ENST00000493819.1 exon1 c.G11C p.R4T exonic ENSG00000241755.1 . nonsynonymous SNV ENSG00000241755.1:ENST00000493819.1:exon1:c.G11C:p.R4T 2p11.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV1-9 328 0 257 35 0.11986301369863 NA TRUE +ENSG00000172318.5 . BCM GRCh38.p13 chr2 167869747 167869747 + T T A Nonsense_Mutation SNP ENST00000392690.3 exon1 c.T708A p.C236X exonic ENSG00000172318.5 . stopgain ENSG00000172318.5:ENST00000392690.3:exon1:c.T708A:p.C236X 2q24.3 C3L-00079 . . . . . . . . . 5.6 . . . . D D . . . 0.321 . . . . . . . . . D D . . 6.608 36 0.994 D N 0.555 5.493 0.397 4.334 0.176 0.732 0.574 0.744 0.564 . 6.020 1.940 1.799 1.138 0.665 1.000 0.986 0.989 753 . . . . B3GALT1 155 1 108 9 0.0769230769230769 TRUE TRUE +ENSG00000144481.17 . BCM GRCh38.p13 chr2 233945933 233945933 + T T G Missense_Mutation SNP ENST00000324695.9 exon7 c.T777G p.H259Q exonic ENSG00000144481.17 . nonsynonymous SNV ENSG00000144481.17:ENST00000324695.9:exon7:c.T777G:p.H259Q 2q37.1 C3L-00079 . . . . . . . . . 13.20 D D D D D D M T D 0.881 T T D 0.386 0.801 0.306 0.667 T D D D D T 1.303 14.410 0.945 N N -0.704 0.807 -1.041 0.440 0.214 0.487 0.574 0.547 0.564 . 5.710 -9.170 -0.030 -0.556 -0.716 0.495 0.059 0.010 917 . . . . TRPM8 155 0 135 26 0.161490683229814 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142025 10142029 + CGGCC CGGCC - Frame_Shift_Del DEL ENST00000256474.3 exon1 c.178_182del p.P61Afs*69 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.178_182del:p.P61Afs*69 3p25.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 283 0 113 152 0.573584905660377 TRUE TRUE +ENSG00000132155.12 . BCM GRCh38.p13 chr3 12590831 12590831 + A A G Missense_Mutation SNP ENST00000251849.8 exon12 c.T1337C p.I446T exonic ENSG00000132155.12 . nonsynonymous SNV ENSG00000132155.12:ENST00000251849.8:exon12:c.T1337C:p.I446T 3p25.2 C3L-00079 . . . . . . . . . 19.20 D D D D D D L D D 0.908 D D D 0.892 0.612 0.967 2.688 D D D D D D 4.172 28.400 0.999 D D 0.502 5.051 0.555 5.705 1.000 0.722 0.702 0.702 0.735 . 4.710 4.710 9.320 1.312 0.756 1.000 1.000 0.997 689 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . RAF1 248 0 152 94 0.382113821138211 TRUE NA +ENSG00000164077.14 . BCM GRCh38.p13 chr3 49910218 49910218 + C C T Missense_Mutation SNP ENST00000296473.7 exon4 c.G1571A p.R524Q exonic ENSG00000164077.14 . nonsynonymous SNV ENSG00000164077.14:ENST00000296473.7:exon4:c.G1571A:p.R524Q 3p21.31 C3L-00079 8.28e-06 0 0 0 0 1.508e-05 0 0 rs780927557 2.17 T T . . N D N . N 0.163 T T T 0.074 0.507 0.318 0.919 T T T T T T 2.199 20.900 0.978 D N -0.539 1.101 -0.351 1.462 1.000 0.789 0.654 0.768 0.714 . 6.080 4.280 2.016 0.129 -0.202 1.000 0.251 0.064 1 . . . . MON1A 162 0 114 74 0.393617021276596 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52576602 52576602 + - NA AA Frame_Shift_Ins INS ENST00000296302.11 exon22 c.3629_3630insTT p.Y1211Sfs*8 exonic ENSG00000163939.18 . frameshift insertion ENSG00000163939.18:ENST00000296302.11:exon22:c.3629_3630insTT:p.Y1211Sfs*8 3p21.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 NA NA NA NA NA NA NA +ENSG00000144868.13 . BCM GRCh38.p13 chr3 133380552 133380552 + C C T Missense_Mutation SNP ENST00000321871.10 exon4 c.C841T p.R281C exonic ENSG00000144868.13 . nonsynonymous SNV ENSG00000144868.13:ENST00000321871.10:exon4:c.C841T:p.R281C 3q22.1 C3L-00079 2.518e-05 0 0 0 0 3.064e-05 0 6.11e-05 rs779231884 0.19 T T P B N N N T N 0.176 T T T 0.074 . 0.043 0.387 T T T T T T 1.570 16.180 0.994 N . -0.523 1.132 -0.641 0.985 0.998 0.661 0.660 0.644 0.586 . 4.240 -1.260 0.814 0.141 0.599 0.003 0.328 0.905 482 . . . ID=COSV58868845;OCCURENCE=1(endometrium) TMEM108 129 0 109 21 0.161538461538462 TRUE TRUE +ENSG00000155890.4 . BCM GRCh38.p13 chr3 140682820 140682820 + G G T Missense_Mutation SNP ENST00000286349.4 exon2 c.G700T p.G234W exonic ENSG00000155890.4 . nonsynonymous SNV ENSG00000155890.4:ENST00000286349.4:exon2:c.G700T:p.G234W 3q23 C3L-00079 . . . . . . . . . 6.20 D D D D N N N T N 0.520 T T T 0.175 0.605 0.570 0.895 T T T T D T 3.941 26.600 0.996 D N 0.501 5.042 0.480 4.983 0.000 0.487 0.574 0.574 0.564 . 5.200 4.120 2.072 0.226 0.676 0.938 0.976 0.988 561 B-box-type_zinc_finger . . . TRIM42 233 1 223 14 0.0590717299578059 TRUE TRUE +ENSG00000197980.13 . BCM GRCh38.p13 chr3 156993252 156993252 + G G C Missense_Mutation SNP ENST00000356539.8 exon9 c.G1084C p.E362Q exonic ENSG00000197980.13 . nonsynonymous SNV ENSG00000197980.13:ENST00000356539.8:exon9:c.G1084C:p.E362Q 3q25.31 C3L-00079 . . . . . . . . . 4.20 D T B B N N M T N 0.272 T T T 0.079 0.060 0.095 . T T T T D T 2.892 23.200 0.996 D N -0.056 2.320 0.043 2.514 0.002 0.554 0.588 0.574 0.564 . 4.970 4.080 3.757 1.176 0.618 1.000 0.998 0.975 646 . . . . LEKR1 100 0 84 7 0.0769230769230769 TRUE NA +ENSG00000078177.14 . BCM GRCh38.p13 chr4 40126152 40126153 + AT AT - Frame_Shift_Del DEL ENST00000261435.11 exon12 c.4349_4350del p.T1451Wfs*3 exonic ENSG00000078177.14 . frameshift deletion ENSG00000078177.14:ENST00000261435.11:exon12:c.4349_4350del:p.T1451Wfs*3 4p14 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . N4BP2 44 0 29 9 0.236842105263158 TRUE TRUE +ENSG00000083857.14 . BCM GRCh38.p13 chr4 186636750 186636756 + CTCCCGT CTCCCGT - Frame_Shift_Del DEL ENST00000441802.7 exon5 c.3801_3807del p.R1267Sfs*7 exonic ENSG00000083857.14 . frameshift deletion ENSG00000083857.14:ENST00000441802.7:exon5:c.3801_3807del:p.R1267Sfs*7 4q35.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT1 287 0 231 64 0.216949152542373 TRUE TRUE +ENSG00000124279.12 . BCM GRCh38.p13 chr5 7867834 7867834 + C C G Missense_Mutation SNP ENST00000264669.10 exon2 c.G250C p.V84L exonic ENSG00000124279.12 . nonsynonymous SNV ENSG00000124279.12:ENST00000264669.10:exon2:c.G250C:p.V84L 5p15.31 C3L-00079 . . . . . . . . . 0.20 T T B B N N L T N 0.049 T T T 0.035 0.127 0.229 0.186 T T T T T T 0.024 1.494 0.555 N N -1.259 0.188 -1.271 0.228 1.000 0.609 0.587 0.731 0.605 . 4.530 1.510 -0.002 -0.312 -0.182 0.000 0.000 0.030 735 . . . . FASTKD3 132 0 80 19 0.191919191919192 TRUE TRUE +ENSG00000164588.8 . BCM GRCh38.p13 chr5 45695822 45695822 + T T C Missense_Mutation SNP ENST00000303230.6 exon1 c.A272G p.Y91C exonic ENSG00000164588.8 . nonsynonymous SNV ENSG00000164588.8:ENST00000303230.6:exon1:c.A272G:p.Y91C 5p12 C3L-00079 . . . . . . . . . 7.20 T T P P N D N D N 0.222 D D D 0.351 0.268 0.508 2.305 D T T T D T 3.055 23.500 0.992 N N -0.195 1.890 -0.193 1.802 0.992 0.455 0.574 0.607 0.563 . 3.900 3.900 0.115 0.943 0.542 0.001 0.998 0.940 486 . . . . HCN1 376 0 289 46 0.137313432835821 TRUE TRUE +ENSG00000137261.14 . BCM GRCh38.p13 chr6 24551499 24551499 + T T G Missense_Mutation SNP ENST00000378214.8 exon20 c.A2975C p.K992T exonic ENSG00000137261.14 . nonsynonymous SNV ENSG00000137261.14:ENST00000378214.8:exon20:c.A2975C:p.K992T 6p22.3 C3L-00079 . . . . . . . . . 12.20 D D D D D D M T D 0.399 T T T 0.198 0.406 0.495 0.565 T T T T D D 3.651 25.200 0.997 D D 0.590 5.821 0.499 5.153 0.639 0.554 0.547 0.618 0.542 . 4.560 4.560 3.760 1.138 0.663 1.000 0.819 0.839 804 . . . . KIAA0319 175 0 130 33 0.202453987730061 TRUE TRUE +ENSG00000204616.11 . BCM GRCh38.p13 chr6 30112731 30112731 + T T A Missense_Mutation SNP ENST00000376734.4 exon2 c.A75T p.K25N exonic ENSG00000204616.11 . nonsynonymous SNV ENSG00000204616.11:ENST00000376734.4:exon2:c.A75T:p.K25N 6p22.1 C3L-00079 . . . . . . . . . 2.19 T D B B N N N D N 0.046 T T T 0.192 0.539 0.534 0.277 T T T T T . 0.479 6.281 0.841 N N -1.533 0.071 -1.631 0.067 1.000 0.487 0.297 0.574 0.530 . 3.890 -3.510 -0.986 -1.080 -0.165 0.001 0.005 0.018 846 Zinc_finger,_RING-type . . . TRIM31 96 0 82 7 0.0786516853932584 TRUE TRUE +ENSG00000204569.10 . BCM GRCh38.p13 chr6 30603815 30603815 + C C T Missense_Mutation SNP ENST00000376511.7 exon15 c.G1537A p.E513K exonic ENSG00000204569.10 . nonsynonymous SNV ENSG00000204569.10:ENST00000376511.7:exon15:c.G1537A:p.E513K 6p21.33 C3L-00079 1.875e-05 0 0 0 0.0003 0 0 0 rs776493915 9.19 D D P B D D M T N 0.540 T T D 0.182 0.198 0.336 1.215 T T T T D . 3.383 24.400 0.999 D D 0.307 3.815 0.338 3.945 1.000 0.707 0.702 0.702 0.714 . 4.790 4.790 6.952 1.026 0.549 1.000 0.914 0.997 819 . . . . PPP1R10 20 0 11 5 0.3125 TRUE NA +ENSG00000146216.13 . BCM GRCh38.p13 chr6 43255053 43255053 + G G T Missense_Mutation SNP ENST00000259750.9 exon7 c.G581T p.R194L exonic ENSG00000146216.13 . nonsynonymous SNV ENSG00000146216.13:ENST00000259750.9:exon7:c.G581T:p.R194L 6p21.1 C3L-00079 . . . . . . . . . 16.20 D D D D D D M T D 0.865 T T D 0.517 0.676 0.674 2.870 D T D D D D 4.502 32 0.998 D D 0.944 12.256 0.875 12.715 1.000 0.516 0.547 0.576 0.586 . 4.980 4.980 9.530 1.160 0.658 1.000 0.997 0.985 369 Protein_kinase_domain . . ID=COSV99445173;OCCURENCE=1(skin) TTBK1 284 0 228 21 0.0843373493975904 TRUE TRUE +ENSG00000112280.16 . BCM GRCh38.p13 chr6 70294293 70294293 + A A T Missense_Mutation SNP ENST00000357250.10 exon5 c.T570A p.S190R exonic ENSG00000112280.16 . nonsynonymous SNV ENSG00000112280.16:ENST00000357250.10:exon5:c.T570A:p.S190R 6q13 C3L-00079 . . . . . . . . . 0.20 T T B B N N N T N 0.396 T T T 0.032 0.351 0.195 0.077 T T T T T T 0.578 7.302 0.879 N N -1.771 0.027 -1.777 0.037 0.991 0.487 0.574 0.574 0.564 . 5.770 -11.300 -0.429 -1.068 -0.576 0.000 0.400 0.925 791 Laminin_G_domain . . . COL9A1 222 0 157 66 0.295964125560538 TRUE TRUE +ENSG00000118407.15 . BCM GRCh38.p13 chr6 75314652 75314652 + C C T Missense_Mutation SNP ENST00000237172.12 exon5 c.G1180A p.D394N exonic ENSG00000118407.15 . nonsynonymous SNV ENSG00000118407.15:ENST00000237172.12:exon5:c.G1180A:p.D394N 6q14.1 C3L-00079 . . . . . . . . . 13.20 D D D D D D M T D 0.785 T T T 0.370 0.570 0.603 0.709 D T T T D D 3.672 25.300 0.999 D D 0.816 9.109 0.786 9.714 1.000 0.615 0.588 0.659 0.595 . 5.650 5.650 7.905 1.026 0.599 1.000 0.998 0.848 825 . . . ID=COSV52736023;OCCURENCE=1(skin) FILIP1 52 0 63 7 0.1 TRUE TRUE +ENSG00000118402.6 . BCM GRCh38.p13 chr6 79916750 79916750 + C C T Missense_Mutation SNP ENST00000369816.5 exon6 c.G803A p.R268Q exonic ENSG00000118402.6 . nonsynonymous SNV ENSG00000118402.6:ENST00000369816.5:exon6:c.G803A:p.R268Q 6q14.1 C3L-00079 . . . . . . . . rs946012914 3.20 T T B B D D N T N 0.079 T T T 0.037 0.606 0.043 0.438 T T T T T T 2.308 21.600 0.796 D N -0.320 1.565 -0.040 2.227 0.012 0.706 0.588 0.710 0.668 . 5.950 4.980 3.297 1.026 0.599 1.000 1.000 0.992 692 . . . . ELOVL4 407 0 395 25 0.0595238095238095 TRUE NA +ENSG00000111886.11 . BCM GRCh38.p13 chr6 89264470 89264470 + G G A Missense_Mutation SNP ENST00000402938.4 exon8 c.C1028T p.A343V exonic ENSG00000111886.11 . nonsynonymous SNV ENSG00000111886.11:ENST00000402938.4:exon8:c.C1028T:p.A343V 6q15 C3L-00079 8.252e-06 0 0 0 0 1.501e-05 0 0 rs149245573 14.16 . D . . D D H D . 0.905 T T D 0.577 . 0.976 0.644 D D D D D D 4.272 29.300 0.999 D D 0.929 11.816 0.917 14.517 1.000 0.516 0.588 0.602 0.586 . 5.930 5.930 10.003 1.176 0.676 1.000 0.999 0.996 902 Neurotransmitter-gated_ion-channel_transmembrane_domain . . ID=COSV68764867;OCCURENCE=2(large_intestine),2(prostate),1(lung) GABRR2 197 0 191 14 0.0682926829268293 NA TRUE +ENSG00000112159.12 . BCM GRCh38.p13 chr6 89753527 89753527 + C C G Missense_Mutation SNP ENST00000369393.8 exon22 c.G3060C p.K1020N exonic ENSG00000112159.12 . nonsynonymous SNV ENSG00000112159.12:ENST00000369393.8:exon22:c.G3060C:p.K1020N 6q15 C3L-00079 . . . . . . . . . 10.20 D D B B D D M T D 0.564 T T D 0.102 0.447 0.539 0.370 T T T T D D 2.120 20.300 0.935 D N -0.200 1.875 -0.138 1.943 0.019 0.707 0.654 0.725 0.636 . 5.910 3.560 2.274 0.179 -0.181 1.000 0.999 0.368 764 . . . . MDN1 176 0 206 15 0.0678733031674208 TRUE TRUE +ENSG00000112276.14 . BCM GRCh38.p13 chr6 105116856 105116856 + C C A Missense_Mutation SNP ENST00000314641.10 exon6 c.G661T p.A221S exonic ENSG00000112276.14 . nonsynonymous SNV ENSG00000112276.14:ENST00000314641.10:exon6:c.G661T:p.A221S 6q21 C3L-00079 . . . . . . . . . 15.20 D D D D D D M T D 0.818 T T D 0.413 0.697 0.716 0.824 T T D D D D 3.768 25.700 0.998 D D 0.898 10.988 0.867 12.397 1.000 0.615 0.610 0.602 0.655 . 5.770 5.770 6.089 1.026 0.599 1.000 1.000 0.994 828 . . . . BVES 382 0 330 21 0.0598290598290598 TRUE TRUE +ENSG00000164494.12 . BCM GRCh38.p13 chr6 107212174 107212174 + T T A Nonsense_Mutation SNP ENST00000369037.9 exon5 c.A811T p.K271X exonic ENSG00000164494.12 . stopgain ENSG00000164494.12:ENST00000369037.9:exon5:c.A811T:p.K271X 6q21 C3L-00079 . . . . . . . . . 4.6 . . . . N D . . . 0.856 . . . . . . . . . D D . . 7.567 38 0.992 D N 0.489 4.953 0.356 4.060 1.000 0.741 0.667 0.768 0.670 . 5.970 3.500 4.527 0.165 -0.179 1.000 0.998 0.972 911 . . . . PDSS2 262 0 223 79 0.26158940397351 TRUE TRUE +ENSG00000118690.13 . BCM GRCh38.p13 chr6 108912463 108912463 + G G T Missense_Mutation SNP ENST00000392644.9 exon10 c.G1255T p.A419S exonic ENSG00000118690.13 . nonsynonymous SNV ENSG00000118690.13:ENST00000392644.9:exon10:c.G1255T:p.A419S 6q21 C3L-00079 . . . . . . . . . 1.20 T T B B N N M T N 0.189 T T T 0.043 0.476 0.374 0.117 T T T T T T 1.210 13.710 0.942 N N -0.407 1.367 -0.339 1.486 0.001 0.554 0.563 0.547 0.621 . 5.880 2.160 1.250 1.176 0.676 0.546 0.984 0.964 680 . . . . ARMC2 154 0 151 8 0.050314465408805 TRUE NA +ENSG00000112394.17 . BCM GRCh38.p13 chr6 111218962 111218962 + G G C Missense_Mutation SNP ENST00000368851.10 exon5 c.G1235C p.G412A exonic ENSG00000112394.17 . nonsynonymous SNV ENSG00000112394.17:ENST00000368851.10:exon5:c.G1235C:p.G412A 6q21 C3L-00079 . . . . . . . . . 19.20 D D D D D D H D D 0.799 D D D 0.760 0.839 0.899 1.360 T D D D D D 3.770 25.700 0.998 D D 0.759 8.025 0.665 7.152 1.000 0.706 0.383 0.710 0.530 . 5.370 4.510 7.717 1.155 0.676 1.000 0.988 0.969 574 Major_facilitator_superfamily_domain . . . SLC16A10 454 0 477 39 0.0755813953488372 TRUE TRUE +ENSG00000111877.17 . BCM GRCh38.p13 chr6 118829084 118829084 + C C A Missense_Mutation SNP ENST00000316316.10 exon9 c.G1492T p.D498Y exonic ENSG00000111877.17 . nonsynonymous SNV ENSG00000111877.17:ENST00000316316.10:exon9:c.G1492T:p.D498Y 6q22.31 C3L-00079 . . . . . . . . . 16.20 D D D D U D H T D 0.958 D D D 0.467 0.689 0.607 0.629 T T D D D D 4.432 31 0.995 D D 0.770 8.226 0.722 8.187 1.000 0.563 0.654 0.602 0.636 . 5.010 5.010 7.334 1.026 0.549 1.000 1.000 0.997 482 MCM_domain . . . MCM9 198 0 190 23 0.107981220657277 TRUE TRUE +ENSG00000135547.9 . BCM GRCh38.p13 chr6 125752089 125752089 + A A T Missense_Mutation SNP ENST00000368364.4 exon3 c.A245T p.Q82L exonic ENSG00000135547.9 . nonsynonymous SNV ENSG00000135547.9:ENST00000368364.4:exon3:c.A245T:p.Q82L 6q22.31 C3L-00079 . . . . . . . . . 18.20 D D D P D D L D D 0.766 D D D 0.841 0.413 0.995 1.140 D D D D D D 4.852 33 0.996 D D 0.718 7.374 0.740 8.565 1.000 0.660 0.660 0.663 0.595 . 5.770 5.770 8.943 1.308 0.684 1.000 1.000 0.984 911 Myc-type,_basic_helix-loop-helix_(bHLH)_domain . . . HEY2 137 0 135 16 0.105960264900662 TRUE TRUE +ENSG00000152894.14 . BCM GRCh38.p13 chr6 127970280 127970280 + C C A Nonsense_Mutation SNP ENST00000368215.7 exon30 c.G4267T p.E1423X exonic ENSG00000152894.14 . stopgain ENSG00000152894.14:ENST00000368215.7:exon30:c.G4267T:p.E1423X 6q22.33 C3L-00079 . . . . . . . . . 6.6 . . . . D D . . . 0.652 . . . . . . . . . D D . . 10.524 56 0.996 D D 1.099 17.461 0.940 15.584 1.000 0.706 0.588 0.710 0.714 . 5.030 5.030 6.167 1.008 0.594 1.000 1.000 0.994 798 Tyrosine_specific_protein_phosphatases_domain;PTP_type_protein_phosphatase;Protein-tyrosine_phosphatase,_catalytic . . . PTPRK 129 0 80 12 0.130434782608696 TRUE TRUE +ENSG00000197442.10 . BCM GRCh38.p13 chr6 136697306 136697306 + C C A Missense_Mutation SNP ENST00000359015.5 exon5 c.G888T p.L296F exonic ENSG00000197442.10 . nonsynonymous SNV ENSG00000197442.10:ENST00000359015.5:exon5:c.G888T:p.L296F 6q23.3 C3L-00079 . . . . . . . . . 14.20 D D D D D D M T D 0.809 T T D 0.264 0.352 0.601 1.182 T T D T D D 3.371 24.300 0.999 D D 0.587 5.799 0.507 5.219 1.000 0.707 0.725 0.618 0.655 . 5.320 3.400 1.957 1.026 0.549 1.000 1.000 0.998 407 Domain_of_unknown_function_DUF4071 . . . MAP3K5 138 0 88 30 0.254237288135593 TRUE TRUE +ENSG00000213079.9 . BCM GRCh38.p13 chr6 154833058 154833058 + G G C Missense_Mutation SNP ENST00000367178.7 exon20 c.G3479C p.R1160T exonic ENSG00000213079.9 . nonsynonymous SNV ENSG00000213079.9:ENST00000367178.7:exon20:c.G3479C:p.R1160T 6q25.2 C3L-00079 8.246e-06 0 0 0 0 0 0 6.063e-05 rs765106393 8.20 D D P B U D L T D 0.594 T T T 0.103 0.203 0.219 0.346 T T T T D D 3.846 26.100 0.974 D D 0.421 4.478 0.518 5.324 1.000 0.722 0.725 0.702 0.735 . 5.560 5.560 5.829 1.176 0.676 1.000 1.000 0.998 931 . . . . SCAF8 164 0 137 34 0.198830409356725 TRUE NA +ENSG00000015520.14 . BCM GRCh38.p13 chr7 44539973 44539973 + C C T Missense_Mutation SNP ENST00000289547.8 exon2 c.G424A p.V142M exonic ENSG00000015520.14 . nonsynonymous SNV ENSG00000015520.14:ENST00000289547.8:exon2:c.G424A:p.V142M 7p13 C3L-00079 1.65e-05 0 8.646e-05 0 0 1.501e-05 0 0 rs757842457 8.20 T D D P U N M D N 0.386 T D D 0.383 0.433 0.878 0.500 T T T T D D 1.636 16.610 0.985 N N -0.080 2.237 -0.187 1.816 1.000 0.487 0.574 0.547 0.613 . 5.040 3.940 0.287 1.015 0.599 0.003 0.015 0.067 783 Niemann-Pick_C1,_N-terminal . . . NPC1L1 384 0 423 37 0.0804347826086956 TRUE NA +ENSG00000164715.6 . BCM GRCh38.p13 chr7 98194204 98194204 + C C G Missense_Mutation SNP ENST00000297293.6 exon11 c.C3739G p.L1247V exonic ENSG00000164715.6 . nonsynonymous SNV ENSG00000164715.6:ENST00000297293.6:exon11:c.C3739G:p.L1247V 7q21.3 C3L-00079 . . . . . . . . . 2.20 T T P B N N M T N 0.012 T T D 0.152 0.125 0.567 0.221 T T T T T T -0.436 0.161 0.623 N N -0.953 0.456 -1.050 0.429 0.885 0.737 0.654 0.733 0.636 . 5.620 0.310 0.009 -0.262 -0.773 0.002 0.002 0.004 850 . . . . LMTK2 125 0 93 11 0.105769230769231 TRUE TRUE +ENSG00000081803.16 . BCM GRCh38.p13 chr7 122621569 122621569 + C C A Missense_Mutation SNP ENST00000449022.7 exon5 c.G1016T p.R339L exonic ENSG00000081803.16 . nonsynonymous SNV ENSG00000081803.16:ENST00000449022.7:exon5:c.G1016T:p.R339L 7q31.32 C3L-00079 . . . . . . . . . 15.20 D D D D D D L T D 0.502 T T D 0.346 0.444 0.739 0.845 T D D D D D 3.995 26.900 0.998 D D 0.588 5.808 0.627 6.575 0.999 0.693 0.574 0.653 0.564 . 5.600 5.600 5.949 1.008 0.549 1.000 1.000 0.996 751 . . . . CADPS2 283 0 206 34 0.141666666666667 TRUE TRUE +ENSG00000169946.14 . BCM GRCh38.p13 chr8 105798928 105798928 + T T G Missense_Mutation SNP ENST00000407775.7 exon7 c.T944G p.M315R exonic ENSG00000169946.14 . nonsynonymous SNV ENSG00000169946.14:ENST00000407775.7:exon7:c.T944G:p.M315R 8q23.1 C3L-00079 . . . . . . . . . 13.20 T D P P D D N T D 0.753 T T D 0.352 0.253 0.486 0.362 D D D D D D 2.617 22.700 0.975 D D 0.090 2.845 0.264 3.512 1.000 0.707 0.574 0.547 0.714 . 5.880 5.880 5.955 1.138 0.665 1.000 1.000 0.992 842 Zinc_finger_C2H2-type . . . ZFPM2 99 0 90 19 0.174311926605505 TRUE TRUE +ENSG00000205038.12 . BCM GRCh38.p13 chr8 109464370 109464370 + T T C Missense_Mutation SNP ENST00000378402.10 exon49 c.T7538C p.V2513A exonic ENSG00000205038.12 . nonsynonymous SNV ENSG00000205038.12:ENST00000378402.10:exon49:c.T7538C:p.V2513A 8q23.1 C3L-00079 . . . . . . . . . 16.20 D D P P D D M D D 0.768 D D D 0.753 0.438 0.389 0.202 T T D D D D 3.819 25.900 0.999 D D 0.656 6.542 0.658 7.027 1.000 0.554 0.547 0.547 0.621 . 5.440 5.440 6.837 1.138 0.665 1.000 1.000 0.997 651 . . . . PKHD1L1 251 0 195 28 0.125560538116592 TRUE TRUE +ENSG00000189376.12 . BCM GRCh38.p13 chr8 123220141 123220141 + C C G Missense_Mutation SNP ENST00000276704.6 exon6 c.G1105C p.E369Q exonic ENSG00000189376.12 . nonsynonymous SNV ENSG00000189376.12:ENST00000276704.6:exon6:c.G1105C:p.E369Q 8q24.13 C3L-00079 . . . . . . . . . 3.18 T T D B N N M . N 0.282 T T T 0.080 0.219 0.456 0.322 . T T T D T 2.078 19.850 0.988 N N -0.211 1.847 -0.340 1.484 1.000 0.732 0.725 0.744 0.728 . 5.780 3.960 1.640 1.026 0.599 0.013 0.950 0.419 974 . . . . C8orf76 64 0 59 10 0.144927536231884 TRUE TRUE +ENSG00000179950.14 . BCM GRCh38.p13 chr8 143818429 143818429 + A A T Missense_Mutation SNP ENST00000526683.6 exon6 c.T454A p.F152I exonic ENSG00000179950.14 . nonsynonymous SNV ENSG00000179950.14:ENST00000526683.6:exon6:c.T454A:p.F152I 8q24.3 C3L-00079 . . . . . . . . . 16.20 D D P P D D M T D 0.687 D D D 0.804 0.853 0.886 4.016 D T D D D D 3.687 25.400 0.989 D D 0.578 5.709 0.576 5.941 1.000 0.707 0.698 0.702 0.714 . 5.180 5.180 7.378 1.312 0.691 1.000 0.974 0.551 940 RNA_recognition_motif_domain;PUF60,_RNA_recognition_motif_1;RNA_recognition_motif_domain,_eukaryote . . . PUF60 177 0 180 25 0.121951219512195 TRUE TRUE +ENSG00000221829.10 . BCM GRCh38.p13 chr9 35077270 35077270 + G G A Missense_Mutation SNP ENST00000378643.8 exon5 c.C640T p.R214C exonic ENSG00000221829.10 . nonsynonymous SNV ENSG00000221829.10:ENST00000378643.8:exon5:c.C640T:p.R214C 9p13.3 C3L-00079 0.0009 0.0098 0.0002 0 0 2.997e-05 0 0 rs61757385 4.18 T D B B . D L T D 0.409 T T . 0.070 . 0.900 0.297 T T T T T T 3.081 23.600 0.975 D N -0.094 2.194 0.023 2.441 1.000 0.722 0.699 0.725 0.735 . 5.360 3.490 2.438 1.176 0.676 1.000 0.998 0.996 91 . . . . FANCG 423 0 314 57 0.153638814016173 TRUE NA +ENSG00000165028.12 . BCM GRCh38.p13 chr9 104766344 104766344 + C C T Missense_Mutation SNP ENST00000374762.4 exon2 c.C80T p.T27M exonic ENSG00000165028.12 . nonsynonymous SNV ENSG00000165028.12:ENST00000374762.4:exon2:c.C80T:p.T27M 9q31.1 C3L-00079 8.242e-06 0 0 0 0 0 0 6.061e-05 rs768202178 10.20 D D D D D D M T D 0.581 T T D 0.365 0.622 0.724 0.098 T T T T D T 2.374 22.000 0.998 N N 0.258 3.571 0.135 2.884 1.000 0.554 0.588 0.618 0.564 . 3.930 2.020 2.695 -0.321 -0.190 0.986 0.230 0.425 919 . . . ID=COSV66106855;OCCURENCE=1(stomach) NIPSNAP3B 125 0 117 7 0.0564516129032258 TRUE NA +ENSG00000165643.11 . BCM GRCh38.p13 chr9 135694389 135694389 + G G A Missense_Mutation SNP ENST00000298466.9 exon7 c.C944T p.P315L exonic ENSG00000165643.11 . nonsynonymous SNV ENSG00000165643.11:ENST00000298466.9:exon7:c.C944T:p.P315L 9q34.3 C3L-00079 9.194e-05 9.817e-05 8.687e-05 0 0 0.0001 0 6.058e-05 rs372516323 1.20 T T B B N D N T N 0.171 T T T 0.030 . 0.081 0.040 T T T T T T 0.088 1.987 0.432 N N -1.477 0.088 -1.342 0.183 0.710 0.447 0.563 0.578 0.613 . 4.080 0.134 -0.094 -1.148 -1.013 0.448 0.002 0.001 673 . . . . SOHLH1 173 0 134 16 0.106666666666667 TRUE NA +ENSG00000171862.11 . BCM GRCh38.p13 chr10 87933154 87933154 + G G A Missense_Mutation SNP ENST00000371953.8 exon5 c.G395A p.G132D exonic ENSG00000171862.11 . nonsynonymous SNV ENSG00000171862.11:ENST00000371953.8:exon5:c.G395A:p.G132D 10q23.31 C3L-00079 . . . . . . . . rs121909241 20.20 D D D D D D H D D 0.991 D D D 0.991 0.984 0.993 2.597 D D D D D D 4.077 27.600 0.999 D D 1.066 16.147 0.960 16.569 1.000 0.722 0.699 0.710 0.714 . 5.220 5.220 9.525 1.176 0.676 1.000 1.000 1.000 940 Protein-tyrosine_phosphatase,_catalytic;Tensin-type_phosphatase_domain;Dual_specificity_phosphatase,_catalytic_domain . . ID=COSV64288421;OCCURENCE=1(salivary_gland),1(breast),1(cervix),2(large_intestine),10(central_nervous_system),1(ovary),1(lung),5(endometrium) PTEN 398 0 320 146 0.313304721030043 NA TRUE +ENSG00000167996.16 . BCM GRCh38.p13 chr11 61964847 61964847 + T T - Frame_Shift_Del DEL ENST00000273550.12 exon4 c.432delA p.A145Pfs*9 exonic ENSG00000167996.16 . frameshift deletion ENSG00000167996.16:ENST00000273550.12:exon4:c.432delA:p.A145Pfs*9 11q12.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FTH1 464 0 286 134 0.319047619047619 NA TRUE +ENSG00000162129.14 . BCM GRCh38.p13 chr11 72358963 72358963 + C C T Missense_Mutation SNP ENST00000294053.9 exon6 c.G782A p.R261H exonic ENSG00000162129.14 . nonsynonymous SNV ENSG00000162129.14:ENST00000294053.9:exon6:c.G782A:p.R261H 11q13.4 C3L-00079 8.237e-06 0 0 0 0 0 0 6.057e-05 rs772243585 12.20 D D D D D D L T D 0.847 T T D 0.209 0.458 0.709 0.527 T T T T D D 3.560 24.900 0.999 D D 0.290 3.728 0.385 4.256 1.000 0.706 0.644 0.710 0.613 . 4.660 4.660 6.660 1.018 0.589 1.000 0.991 0.978 670 Ankyrin_repeat-containing_domain . . . CLPB 207 0 173 16 0.0846560846560847 TRUE NA +ENSG00000152402.11 . BCM GRCh38.p13 chr11 106939525 106939525 + G G C Missense_Mutation SNP ENST00000526355.7 exon4 c.C1141G p.R381G exonic ENSG00000152402.11 . nonsynonymous SNV ENSG00000152402.11:ENST00000526355.7:exon4:c.C1141G:p.R381G 11q22.3 C3L-00079 . . . . . . . . . 18.20 D D D D U D M D D 0.869 D D D 0.772 0.788 0.907 1.590 T D D D D D 3.704 25.400 0.999 D D 0.473 4.830 0.418 4.489 0.000 0.554 0.574 0.547 0.621 . 5.770 2.570 3.793 1.176 0.618 1.000 0.997 0.991 894 Haem_NO_binding_associated . . . GUCY1A2 92 0 85 17 0.166666666666667 TRUE TRUE +ENSG00000111752.11 . BCM GRCh38.p13 chr12 8936897 8936897 + G G T Missense_Mutation SNP ENST00000544916.6 exon12 c.G2410T p.G804W exonic ENSG00000111752.11 . nonsynonymous SNV ENSG00000111752.11:ENST00000544916.6:exon12:c.G2410T:p.G804W 12p13.31 C3L-00079 . . . . . . . . . 15.20 D D D D D D M T D 0.653 T T D 0.278 0.734 0.304 0.882 D D T T D D 4.281 29.400 0.985 D D 0.604 5.961 0.593 6.132 0.731 0.672 0.546 0.702 0.492 . 5.030 5.030 2.792 1.176 0.676 1.000 0.997 0.996 642 Zinc_finger,_FCS-type . . . PHC1 314 1 230 16 0.0650406504065041 TRUE TRUE +ENSG00000060982.15 . BCM GRCh38.p13 chr12 24881334 24881334 + T T G Missense_Mutation SNP ENST00000261192.12 exon4 c.A357C p.R119S exonic ENSG00000060982.15 . nonsynonymous SNV ENSG00000060982.15:ENST00000261192.12:exon4:c.A357C:p.R119S 12p12.1 C3L-00079 . . . . . . . . . 17.20 D D D D D D H D D 0.989 D D D 0.854 0.872 0.980 0.194 T T D D D D 2.671 22.800 0.996 D N 0.334 3.960 0.117 2.803 0.978 0.732 0.725 0.725 0.728 . 5.840 -2.280 0.230 -0.168 -0.144 0.993 0.958 0.942 932 . . . . BCAT1 161 0 146 22 0.130952380952381 TRUE TRUE +ENSG00000073910.22 . BCM GRCh38.p13 chr13 32173521 32173521 + C C T Missense_Mutation SNP ENST00000542859.6 exon19 c.C2306T p.A769V exonic ENSG00000073910.22 . nonsynonymous SNV ENSG00000073910.22:ENST00000542859.6:exon19:c.C2306T:p.A769V 13q13.1 C3L-00079 8.283e-06 0 0 0 0 0 0 6.057e-05 rs755738376 4.20 T T B B D D L T N 0.461 T T T 0.069 0.395 0.335 0.396 T T T T T D 1.601 16.380 0.957 D N -0.067 2.280 0.092 2.702 1.000 0.615 0.588 0.659 0.621 . 5.750 5.750 3.879 1.026 0.599 0.999 0.606 0.280 944 . . . . FRY 298 0 236 23 0.0888030888030888 TRUE NA +ENSG00000253797.2 . BCM GRCh38.p13 chr13 52029129 52029129 + G G T Missense_Mutation SNP ENST00000521776.2 exon2 c.G325T p.V109F exonic ENSG00000253797.2 . nonsynonymous SNV ENSG00000253797.2:ENST00000521776.2:exon2:c.G325T:p.V109F 13q14.3 C3L-00079 . . . . . . . . . 8.20 D T D P D D M T D 0.200 T T T 0.208 0.524 0.368 0.472 T T T T D D 2.012 19.350 0.993 N N 0.233 3.452 0.068 2.608 0.256 0.707 0.654 0.725 0.714 . 2.740 1.870 0.920 0.626 0.584 0.563 0.976 0.863 593 . . . . UTP14C 732 1 615 49 0.0737951807228916 TRUE TRUE +ENSG00000100625.9 . BCM GRCh38.p13 chr14 60720183 60720183 + C C A Missense_Mutation SNP ENST00000216513.5 exon2 c.G1126T p.V376F exonic ENSG00000100625.9 . nonsynonymous SNV ENSG00000100625.9:ENST00000216513.5:exon2:c.G1126T:p.V376F 14q23.1 C3L-00079 . . . . . . . . . 16.20 D D D P D D M D N 0.773 D D D 0.449 0.429 0.773 0.526 T T D D D D 3.454 24.600 0.994 D D 0.513 5.136 0.558 5.729 1.000 0.490 0.563 0.759 0.636 . 5.720 4.830 3.063 1.026 0.599 1.000 1.000 1.000 492 . . . . SIX4 225 1 116 65 0.359116022099448 TRUE TRUE +ENSG00000100652.5 . BCM GRCh38.p13 chr14 69786112 69786112 + C C A Missense_Mutation SNP ENST00000216540.5 exon2 c.G552T p.M184I exonic ENSG00000100652.5 . nonsynonymous SNV ENSG00000100652.5:ENST00000216540.5:exon2:c.G552T:p.M184I 14q24.1 C3L-00079 . . . . . . . . . 2.20 D D B B N N N T N 0.114 T T T 0.017 0.487 0.189 0.001 T T T T T T -0.401 0.192 0.824 N N -1.263 0.186 -1.194 0.288 0.947 0.010 0.447 0.514 0.646 . 5.010 0.544 -1.976 -2.141 -1.780 0.000 0.000 0.000 785 . . . . SLC10A1 194 0 151 17 0.101190476190476 TRUE TRUE +ENSG00000119596.18 . BCM GRCh38.p13 chr14 74764285 74764285 + G G T Nonsense_Mutation SNP ENST00000325680.12 exon1 c.G796T p.E266X exonic ENSG00000119596.18 . stopgain ENSG00000119596.18:ENST00000325680.12:exon1:c.G796T:p.E266X 14q24.3 C3L-00079 . . . . . . . . . 4.6 . . . . N A . . . 0.134 . . . . . . . . . D D . . 6.941 36 0.995 D N 0.783 8.457 0.555 5.702 1.000 0.628 0.672 0.672 0.658 . 4.160 4.160 2.310 1.176 0.676 1.000 0.999 0.964 566 . . . . YLPM1 154 0 112 37 0.248322147651007 TRUE TRUE +ENSG00000248905.10 . BCM GRCh38.p13 chr15 32776882 32776882 + A A G Missense_Mutation SNP ENST00000616417.5 exon20 c.T4168C p.S1390P exonic ENSG00000248905.10 . nonsynonymous SNV ENSG00000248905.10:ENST00000616417.5:exon20:c.T4168C:p.S1390P 15q13.3 C3L-00079 . . . . . . . . . 4.18 D T D P D . N T N 0.265 T T T 0.127 0.308 0.525 0.140 T T T T D . 2.321 21.700 0.989 N N -0.178 1.938 -0.234 1.706 1.000 0.638 0.574 0.653 0.568 . 5.350 -0.064 1.005 1.312 0.750 0.579 0.961 0.875 970 . . . . FMN1 245 0 191 35 0.154867256637168 TRUE TRUE +ENSG00000064726.10 . BCM GRCh38.p13 chr15 83030182 83030182 + G G C Missense_Mutation SNP ENST00000261721.9 exon5 c.C1009G p.Q337E exonic ENSG00000064726.10 . nonsynonymous SNV ENSG00000064726.10:ENST00000261721.9:exon5:c.C1009G:p.Q337E 15q25.2 C3L-00079 8.236e-06 0 0 0 0 0 0 6.056e-05 rs770696742 7.20 T T B B D D M T N 0.739 T T T 0.229 0.702 0.271 0.525 T T T T D D 2.597 22.600 0.986 D D 0.184 3.231 0.361 4.096 1.000 0.707 0.725 0.698 0.711 . 5.150 5.150 9.920 1.176 0.676 1.000 1.000 0.998 457 PHR . . . BTBD1 402 0 330 58 0.149484536082474 TRUE NA +ENSG00000155330.10 . BCM GRCh38.p13 chr16 46809609 46809609 + C C A Nonsense_Mutation SNP ENST00000285697.9 exon3 c.G340T p.E114X exonic ENSG00000155330.10 . stopgain ENSG00000155330.10:ENST00000285697.9:exon3:c.G340T:p.E114X 16q11.2 C3L-00079 . . . . . . . . . 5.6 . . . . D D . . . 0.367 . . . . . . . . . D D . . 7.453 38 0.995 D N 0.905 11.176 0.772 9.341 1.000 0.653 0.634 0.659 0.669 . 5.680 4.720 7.008 1.010 0.529 1.000 1.000 0.995 410 . . . . C16orf87 71 0 34 6 0.15 TRUE TRUE +ENSG00000167208.15 . BCM GRCh38.p13 chr16 50673460 50673462 + GGG GGG - In_Frame_Del DEL ENST00000330943.9 exon4 c.895_897del p.P299del exonic ENSG00000167208.15 . nonframeshift deletion ENSG00000167208.15:ENST00000330943.9:exon4:c.895_897del:p.P299del 16q12.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX20 64 0 52 18 0.257142857142857 TRUE TRUE +ENSG00000167264.18 . BCM GRCh38.p13 chr16 68070950 68070950 + C C G Missense_Mutation SNP ENST00000565263.6 exon12 c.C652G p.H218D exonic ENSG00000167264.18 . nonsynonymous SNV ENSG00000167264.18:ENST00000565263.6:exon12:c.C652G:p.H218D 16q22.1 C3L-00079 . . . . . . . . . 6.20 T T B B D D N T N 0.680 T T T 0.079 0.454 0.495 0.278 T T T T D D 2.207 20.900 0.983 D D -0.205 1.863 -0.020 2.294 1.000 0.742 0.778 0.725 0.714 . 5.430 4.480 4.689 1.026 0.599 1.000 0.998 0.964 13 DUS-like,_FMN-binding_domain . . . DUS2 117 0 67 15 0.182926829268293 TRUE TRUE +ENSG00000140835.9 . BCM GRCh38.p13 chr16 71537433 71537433 + C C A Missense_Mutation SNP ENST00000338482.5 exon3 c.C756A p.S252R exonic ENSG00000140835.9 . nonsynonymous SNV ENSG00000140835.9:ENST00000338482.5:exon3:c.C756A:p.S252R 16q22.2 C3L-00079 . . . . . . . . . 18.20 D D D D D D M D D 0.834 D D D 0.765 0.713 0.915 0.761 T D D D D T 3.351 24.300 0.998 D D 0.583 5.750 0.538 5.523 0.054 0.706 0.588 0.710 0.563 . 6.020 4.080 3.396 1.026 0.599 1.000 0.999 0.994 222 Sulfotransferase_domain . . . CHST4 207 1 136 40 0.227272727272727 TRUE TRUE +ENSG00000166473.17 . BCM GRCh38.p13 chr16 81198788 81198788 + A A C Missense_Mutation SNP ENST00000337114.8 exon7 c.T1417G p.S473A exonic ENSG00000166473.17 . nonsynonymous SNV ENSG00000166473.17:ENST00000337114.8:exon7:c.T1417G:p.S473A 16q23.2 C3L-00079 . . . . . . . . . 5.16 . . D P D N . T N 0.450 T T D 0.172 0.411 0.335 . T . T T D T 3.220 23.900 0.995 D N 0.316 3.862 0.257 3.476 1.000 0.556 0.616 0.685 0.584 . 5.200 4.040 3.826 1.311 0.743 1.000 0.409 0.846 952 . . . . PKD1L2 227 0 156 24 0.133333333333333 TRUE TRUE +ENSG00000129226.14 . BCM GRCh38.p13 chr17 7580223 7580223 + G G A Missense_Mutation SNP ENST00000250092.11 exon2 c.G463A p.E155K exonic ENSG00000129226.14 . nonsynonymous SNV ENSG00000129226.14:ENST00000250092.11:exon2:c.G463A:p.E155K 17p13.1 C3L-00079 . . . . . . . . . 0.20 T T B B N N L T N 0.116 T T T 0.126 0.467 0.300 0.110 T T T T T T 0.516 6.675 0.864 N N -0.492 1.192 -0.450 1.286 1.000 0.722 0.672 0.535 0.735 . 5.990 5.020 1.131 0.227 -0.123 0.002 0.001 0.003 483 . . . . CD68 321 0 257 44 0.146179401993355 TRUE NA +ENSG00000158955.11 . BCM GRCh38.p13 chr17 46876519 46876519 + G G A Missense_Mutation SNP ENST00000290015.7 exon4 c.G875A p.R292Q exonic ENSG00000158955.11 . nonsynonymous SNV ENSG00000158955.11:ENST00000290015.7:exon4:c.G875A:p.R292Q 17q21.32 C3L-00079 3.4e-05 0 0 0.0001 0 3.12e-05 0 6.073e-05 rs139617595 8.19 T T D D D D L T N 0.630 T T D 0.286 . 0.856 0.995 T T T T D . 3.582 25.000 0.999 D D 0.574 5.668 0.575 5.921 1.000 0.526 0.616 0.596 0.584 . 4.860 4.860 5.341 1.176 0.676 1.000 1.000 0.993 447 . . . . WNT9B 211 0 207 15 0.0675675675675676 TRUE NA +ENSG00000046604.13 . BCM GRCh38.p13 chr18 31542636 31542636 + A A T Missense_Mutation SNP ENST00000261590.13 exon14 c.A2118T p.K706N exonic ENSG00000046604.13 . nonsynonymous SNV ENSG00000046604.13:ENST00000261590.13:exon14:c.A2118T:p.K706N 18q12.1 C3L-00079 . . . . . . . . . 3.20 T T P B N N L T N 0.191 T T D 0.069 0.269 0.752 0.311 T T T T D T 1.620 16.500 0.960 D N -0.353 1.488 -0.397 1.378 0.846 0.719 0.723 0.725 0.564 . 5.140 2.740 1.414 0.319 0.751 0.517 0.018 0.033 702 . . . . DSG2 486 1 382 23 0.0567901234567901 TRUE TRUE +ENSG00000206181.5 . BCM GRCh38.p13 chr18 47034651 47034651 + G G T Missense_Mutation SNP ENST00000332567.5 exon1 c.C614A p.P205H exonic ENSG00000206181.5 . nonsynonymous SNV ENSG00000206181.5:ENST00000332567.5:exon1:c.C614A:p.P205H 18q21.1 C3L-00079 . . . . . . . . . 4.20 T D D D N N N T N 0.110 T T T 0.080 0.148 0.076 0.057 T T T T D T 0.344 4.791 0.924 N N -0.938 0.474 -1.270 0.230 0.250 0.403 0.547 0.578 0.613 . 2.090 -4.190 -2.142 -1.523 -1.830 0.000 0.000 0.000 771 . . . . ELOA2 379 0 350 30 0.0789473684210526 TRUE TRUE +ENSG00000187323.12 . BCM GRCh38.p13 chr18 53157422 53157422 + G G A Missense_Mutation SNP ENST00000442544.7 exon8 c.G1328A p.R443Q exonic ENSG00000187323.12 . nonsynonymous SNV ENSG00000187323.12:ENST00000442544.7:exon8:c.G1328A:p.R443Q 18q21.2 C3L-00079 2.471e-05 9.61e-05 0 0 0 2.997e-05 0 0 rs200830938 14.20 D D D D D D M T D 0.886 T T D 0.556 . 0.808 0.757 T T T D D D 4.455 32 0.996 D D 0.829 9.373 0.794 9.936 0.999 0.554 0.574 0.618 0.564 . 5.440 5.440 9.118 1.176 0.676 1.000 0.973 0.875 643 Fibronectin_type_III;Immunoglobulin_subtype . . ID=COSV59103801;OCCURENCE=1(soft_tissue),5(skin),1(prostate),1(endometrium) DCC 545 0 439 38 0.079664570230608 TRUE TRUE +ENSG00000171791.13 . BCM GRCh38.p13 chr18 63128723 63128723 + G G C Missense_Mutation SNP ENST00000398117.1 exon2 c.C622G p.P208A exonic ENSG00000171791.13 . nonsynonymous SNV ENSG00000171791.13:ENST00000398117.1:exon2:c.C622G:p.P208A 18q21.33 C3L-00079 . . . . . . . . . 5.20 T T P B D D N T N 0.521 T T T 0.252 0.463 0.667 1.073 T T T T D T 2.564 22.600 0.981 D D 0.182 3.223 0.312 3.785 1.000 0.707 0.725 0.618 0.586 . 5.150 5.150 6.381 1.176 0.676 1.000 1.000 1.000 932 . . . . BCL2 186 0 165 22 0.117647058823529 TRUE TRUE +ENSG00000105549.11 . BCM GRCh38.p13 chr19 373952 373952 + A A G Missense_Mutation SNP ENST00000342640.9 exon3 c.T491C p.F164S exonic ENSG00000105549.11 . nonsynonymous SNV ENSG00000105549.11:ENST00000342640.9:exon3:c.T491C:p.F164S 19p13.3 C3L-00079 . . . . . . . . . 6.20 T D D D N D L T N 0.732 T T T 0.210 0.375 0.189 0.411 T T T T D T 3.347 24.300 0.998 D N 0.198 3.293 0.051 2.543 0.998 0.554 0.588 0.578 0.563 . 2.990 2.990 1.417 1.150 0.731 0.121 0.295 0.290 994 . . . . THEG 201 1 179 42 0.190045248868778 TRUE TRUE +ENSG00000011304.20 . BCM GRCh38.p13 chr19 808704 808704 + T T A Missense_Mutation SNP ENST00000349038.8 exon12 c.T1327A p.S443T exonic ENSG00000011304.20 . nonsynonymous SNV ENSG00000011304.20:ENST00000349038.8:exon12:c.T1327A:p.S443T 19p13.3 C3L-00079 . . . . . . . . . 12.20 D D D D D D M T D 0.666 T T D 0.297 0.378 0.744 0.979 T T T T D T 3.766 25.700 0.989 D D 0.621 6.143 0.565 5.810 1.000 0.672 0.698 0.702 0.711 . 5.000 5.000 6.077 1.138 0.665 1.000 0.956 0.845 994 . . . . PTBP1 433 0 331 138 0.294243070362473 TRUE TRUE +ENSG00000243137.8 . BCM GRCh38.p13 chr19 43198050 43198050 + A A G Missense_Mutation SNP ENST00000405312.8 exon3 c.T656C p.I219T exonic ENSG00000243137.8 . nonsynonymous SNV ENSG00000243137.8:ENST00000405312.8:exon3:c.T656C:p.I219T 19q13.31 C3L-00079 . . . . . . . . . 0.19 T T P P . N N T N 0.256 T T T 0.132 0.586 0.099 0.013 T T T T T T 0.083 1.946 0.402 N N -0.843 0.595 -1.042 0.439 0.000 0.554 0.574 0.547 0.621 . 1.960 0.831 -0.371 -0.154 0.250 0.000 0.003 0.029 819 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . PSG4 211 0 173 35 0.168269230769231 NA TRUE +ENSG00000213892.12 . BCM GRCh38.p13 chr19 44704044 44704044 + G G A Missense_Mutation SNP ENST00000587331.7 exon4 c.G409A p.A137T exonic ENSG00000213892.12 . nonsynonymous SNV ENSG00000213892.12:ENST00000587331.7:exon4:c.G409A:p.A137T 19q13.32 C3L-00079 . . . . . . . . . 1.18 T T . . U N L T N 0.154 T T T 0.059 . 0.718 0.198 T T T T D T 2.423 22.200 0.997 N N -0.057 2.313 -0.193 1.804 0.062 0.554 0.590 0.056 0.568 . 5.490 2.110 2.017 0.227 0.676 0.954 0.690 0.611 628 Immunoglobulin-like_domain . . . CEACAM16 76 0 64 11 0.146666666666667 TRUE TRUE +ENSG00000160007.19 . BCM GRCh38.p13 chr19 46920060 46920060 + A A G Missense_Mutation SNP ENST00000672722.1 exon2 c.A1385G p.E462G exonic ENSG00000160007.19 . nonsynonymous SNV ENSG00000160007.19:ENST00000672722.1:exon2:c.A1385G:p.E462G 19q13.32 C3L-00079 . . . . . . . . . 13.18 D T . . D D M T D 0.828 T T D 0.344 0.403 0.499 1.775 T D D D D D 4.098 27.700 0.999 D D 0.724 7.474 0.756 8.941 1.000 0.707 0.725 0.725 0.714 . 5.950 5.950 9.325 1.312 0.756 1.000 1.000 0.998 889 FF_domain . . . ARHGAP35 187 0 155 67 0.301801801801802 TRUE TRUE +ENSG00000249471.8 . BCM GRCh38.p13 chr19 58455475 58455475 + G G C Missense_Mutation SNP ENST00000336614.9 exon4 c.G531C p.K177N exonic ENSG00000249471.8 . nonsynonymous SNV ENSG00000249471.8:ENST00000336614.9:exon4:c.G531C:p.K177N 19q13.43 C3L-00079 . . . . . . . . . 2.20 T D D P N N L T N 0.193 T T T 0.038 0.353 0.130 1.167 T T T T T T 1.676 16.860 0.995 N N -0.414 1.352 -0.583 1.073 0.025 0.581 0.602 0.576 0.492 . 2.700 2.700 0.188 0.196 0.676 0.000 0.000 0.008 917 . . . . ZNF324B 163 0 166 23 0.121693121693122 TRUE TRUE +ENSG00000131067.17 . BCM GRCh38.p13 chr20 34851256 34851256 + G G A Missense_Mutation SNP ENST00000336431.10 exon13 c.C1700T p.A567V exonic ENSG00000131067.17 . nonsynonymous SNV ENSG00000131067.17:ENST00000336431.10:exon13:c.C1700T:p.A567V 20q11.22 C3L-00079 3.327e-05 0.0002 0 0.0001 0 1.517e-05 0 0 rs371027305 6.20 T D P B D D L T N 0.418 T T T 0.171 . 0.068 0.304 T T T T T D 2.821 23.100 0.998 D D 0.536 5.330 0.616 6.430 0.995 0.706 0.710 0.725 0.586 . 5.910 5.910 6.642 1.176 0.676 1.000 0.989 0.764 520 . . . ID=COSV60539587;OCCURENCE=1(oesophagus),2(large_intestine),3(central_nervous_system),1(lung),2(thyroid) GGT7 269 0 255 35 0.120689655172414 TRUE TRUE +ENSG00000131069.20 . BCM GRCh38.p13 chr20 34927095 34927095 + A A G Missense_Mutation SNP ENST00000360596.7 exon18 c.A1987G p.M663V exonic ENSG00000131069.20 . nonsynonymous SNV ENSG00000131069.20:ENST00000360596.7:exon18:c.A1987G:p.M663V 20q11.22 C3L-00079 . . . . . . . . . 12.20 D D B B D D M T D 0.466 T T D 0.212 0.686 0.186 0.470 T D T T D D 2.910 23.200 0.872 D D -0.330 1.541 -0.213 1.756 1.000 0.707 0.644 0.644 0.714 . 5.110 4.000 7.125 1.279 0.718 1.000 1.000 0.994 . . . . . ACSS2 195 0 136 46 0.252747252747253 TRUE TRUE +ENSG00000170471.15 . BCM GRCh38.p13 chr20 38521548 38521548 + C C T Missense_Mutation SNP ENST00000262879.11 exon10 c.C1469T p.S490F exonic ENSG00000170471.15 . nonsynonymous SNV ENSG00000170471.15:ENST00000262879.11:exon10:c.C1469T:p.S490F 20q11.23 C3L-00079 . . . . . . . . . 11.19 D T D D D D L . N 0.948 T T T 0.435 0.241 0.405 0.773 T T D D D D 3.016 23.400 0.998 D D 0.693 7.018 0.724 8.228 1.000 0.732 0.654 0.744 0.714 . 5.940 5.940 7.568 1.026 0.599 1.000 1.000 0.999 832 . . . ID=COSV53443917;OCCURENCE=1(soft_tissue),1(kidney) RALGAPB 338 0 292 46 0.136094674556213 TRUE TRUE +ENSG00000197457.10 . BCM GRCh38.p13 chr20 63641384 63641384 + G G A Missense_Mutation SNP ENST00000370053.3 exon5 c.C497T p.A166V exonic ENSG00000197457.10 . nonsynonymous SNV ENSG00000197457.10:ENST00000370053.3:exon5:c.C497T:p.A166V 20q13.33 C3L-00079 . . . . . . . . . 1.19 T T B B U N L . N 0.168 T T T 0.129 0.430 0.426 1.119 T T T T T T 2.619 22.700 0.993 D N -0.669 0.866 -0.619 1.018 1.000 0.726 0.484 0.594 0.639 . 4.930 3.970 2.505 1.082 0.617 0.984 0.929 0.904 . . . . . STMN3 311 0 290 58 0.166666666666667 NA TRUE +ENSG00000142149.9 . BCM GRCh38.p13 chr21 31924708 31924708 + C C T Nonsense_Mutation SNP ENST00000270112.7 exon2 c.C502T p.R168X exonic ENSG00000142149.9 . stopgain ENSG00000142149.9:ENST00000270112.7:exon2:c.C502T:p.R168X 21q22.11 C3L-00079 . . . . . . . . . 5.6 . . . . D A . . . 0.399 . . . . . . . . . D D . . 4.705 32 0.989 D N -0.130 2.083 -0.421 1.335 0.993 0.615 0.588 0.659 0.564 . 4.730 -6.480 -0.148 -0.757 -0.141 0.637 0.889 0.856 797 Protein_kinase_domain;Hormonally_up-regulated_neu_tumour-associated_kinase,_catalytic_domain . . ID=COSV54224432;OCCURENCE=3(endometrium) HUNK 162 0 124 8 0.0606060606060606 TRUE TRUE +ENSG00000171587.15 . BCM GRCh38.p13 chr21 40124317 40124317 + G G C Missense_Mutation SNP ENST00000400454.6 exon20 c.C3574G p.P1192A exonic ENSG00000171587.15 . nonsynonymous SNV ENSG00000171587.15:ENST00000400454.6:exon20:c.C3574G:p.P1192A 21q22.2 C3L-00079 . . . . . . . . . 16.20 D D D D D D M T D 0.701 D D D 0.601 0.816 0.782 1.067 T T D T D D 3.923 26.500 0.993 D D 0.577 5.701 0.429 4.567 1.000 0.500 0.574 0.624 0.564 . 5.200 5.200 7.819 1.176 0.676 1.000 0.991 0.988 940 Fibronectin_type_III . . . DSCAM 123 0 88 36 0.290322580645161 TRUE TRUE +ENSG00000100197.22 . BCM GRCh38.p13 chr22 42129090 42129090 + C C T Missense_Mutation SNP ENST00000645361.2 exon3 c.G448A p.E150K exonic ENSG00000100197.22 . nonsynonymous SNV ENSG00000100197.22:ENST00000645361.2:exon3:c.G448A:p.E150K 22q13.2 C3L-00079 . . . . . . . . . 15.18 D D . . D D H T D 0.742 D D D 0.686 0.926 0.848 0.570 T T D D D D 3.818 25.900 0.999 D D 0.652 6.501 0.487 5.045 1.000 0.581 0.551 0.576 0.605 . 4.180 4.180 4.487 0.993 0.544 1.000 0.995 0.499 106 . . . . CYP2D6 336 0 316 138 0.303964757709251 NA TRUE +ENSG00000100197.22 . BCM GRCh38.p13 chr22 42129766 42129766 + C C A Missense_Mutation SNP ENST00000645361.2 exon2 c.G324T p.Q108H exonic ENSG00000100197.22 . nonsynonymous SNV ENSG00000100197.22:ENST00000645361.2:exon2:c.G324T:p.Q108H 22q13.2 C3L-00079 . . . . . . . . . 4.18 D D . . N N N T N 0.141 T T D 0.043 0.399 0.668 0.108 T T T T T D 1.222 13.810 0.925 N N -0.835 0.605 -0.990 0.502 0.000 0.554 0.551 0.576 0.568 . 3.460 -1.460 0.541 -1.206 -0.488 0.192 0.000 0.000 106 . . . . CYP2D6 303 0 230 148 0.391534391534392 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53217903 53217903 + G G - Frame_Shift_Del DEL ENST00000375401.8 exon4 c.415delC p.Q139Sfs*95 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon4:c.415delC:p.Q139Sfs*95 Xp11.22 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 186 0 120 54 0.310344827586207 TRUE TRUE +ENSG00000161904.12 . BCM GRCh38.p13 chr6 33777240 33777240 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000161904.12 ENST00000293760.10:exon7:c.1157-1G>A . . 6p21.31 C3L-00079 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.286 33 0.994 D . 1.099 17.475 0.959 16.557 1.000 0.257 0.272 0.172 0.090 0.982 5.780 5.780 4.661 1.023 0.599 1.000 0.860 0.897 697 . . . . LEMD2 189 0 163 19 0.104395604395604 TRUE TRUE +ENSG00000215018.10 . BCM GRCh38.p13 chr7 7489388 7489388 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000215018.10 ENST00000399429.8:exon13:c.1164+1G>A . . 7p21.3 C3L-00079 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.288 33 0.968 D . 0.846 9.742 0.640 6.767 0.878 0.054 0.061 0.063 0.057 0.611 4.430 3.520 2.161 1.026 0.599 1.000 0.997 0.985 781 . . . . COL28A1 240 0 205 20 0.0888888888888889 TRUE TRUE +ENSG00000065526.12 . BCM GRCh38.p13 chr1 15876415 15876415 + C C G Silent SNP ENST00000375759.8 exon3 c.C618G p.R206R exonic ENSG00000065526.12 . synonymous SNV ENSG00000065526.12:ENST00000375759.8:exon3:c.C618G:p.R206R 1p36.21 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPEN 427 0 382 21 0.0521091811414392 TRUE TRUE +ENSG00000132780.17 . BCM GRCh38.p13 chr1 45607574 45607574 + A A C Silent SNP ENST00000350030.8 exon6 c.A663C p.G221G exonic ENSG00000132780.17 . synonymous SNV ENSG00000132780.17:ENST00000350030.8:exon6:c.A663C:p.G221G 1p34.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NASP 126 0 121 8 0.062015503875969 NA TRUE +ENSG00000244575.3 . BCM GRCh38.p13 chr2 89213624 89213624 + G G C Silent SNP ENST00000498435.1 exon2 c.C150G p.G50G exonic ENSG00000244575.3 . synonymous SNV ENSG00000244575.3:ENST00000498435.1:exon2:c.C150G:p.G50G 2p11.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV1-27 283 1 250 18 0.0671641791044776 NA TRUE +ENSG00000137628.17 . BCM GRCh38.p13 chr4 168246490 168246490 + G G C Silent SNP ENST00000393743.8 exon30 c.C4092G p.L1364L exonic ENSG00000137628.17 . synonymous SNV ENSG00000137628.17:ENST00000393743.8:exon30:c.C4092G:p.L1364L 4q32.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDX60 366 0 296 21 0.0662460567823344 TRUE TRUE +ENSG00000249915.8 . BCM GRCh38.p13 chr5 306684 306684 + C C T Silent SNP ENST00000264933.9 exon4 c.C291T p.N97N exonic ENSG00000249915.8 . synonymous SNV ENSG00000249915.8:ENST00000264933.9:exon4:c.C291T:p.N97N 5p15.33 C3L-00079 0.0002 0.0008 0.0002 0.0001 0 0.0001 0 0 rs149099614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53776550;OCCURENCE=1(large_intestine) PDCD6 354 0 255 25 0.0892857142857143 TRUE TRUE +ENSG00000168269.10 . BCM GRCh38.p13 chr5 170106377 170106377 + C C T Silent SNP ENST00000306268.8 exon1 c.C420T p.P140P exonic ENSG00000168269.10 . synonymous SNV ENSG00000168269.10:ENST00000306268.8:exon1:c.C420T:p.P140P 5q35.1 C3L-00079 9.649e-06 0 0 0 0 0 0 6.784e-05 rs772507619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXI1 446 0 543 36 0.0621761658031088 TRUE NA +ENSG00000146147.15 . BCM GRCh38.p13 chr6 54019082 54019082 + G G A Silent SNP ENST00000274897.9 exon1 c.G54A p.E18E exonic ENSG00000146147.15 . synonymous SNV ENSG00000146147.15:ENST00000274897.9:exon1:c.G54A:p.E18E 6p12.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MLIP 252 0 244 21 0.0792452830188679 TRUE NA +ENSG00000118407.15 . BCM GRCh38.p13 chr6 75362753 75362753 + C C T Silent SNP ENST00000237172.12 exon3 c.G441A p.P147P exonic ENSG00000118407.15 . synonymous SNV ENSG00000118407.15:ENST00000237172.12:exon3:c.G441A:p.P147P 6q14.1 C3L-00079 5.77e-05 0.0003 0.0003 0 0 1.5e-05 0 0 rs372904400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52724209;OCCURENCE=1(breast),2(large_intestine),3(skin) FILIP1 133 0 135 27 0.166666666666667 TRUE TRUE +ENSG00000154548.9 . BCM GRCh38.p13 chr6 89098773 89098773 + T T C Silent SNP ENST00000452027.3 exon5 c.A591G p.S197S exonic ENSG00000154548.9 . synonymous SNV ENSG00000154548.9:ENST00000452027.3:exon5:c.A591G:p.S197S 6q15 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRSF12 227 0 201 68 0.252788104089219 TRUE TRUE +ENSG00000147459.18 . BCM GRCh38.p13 chr8 25296567 25296567 + T T C Silent SNP ENST00000276440.12 exon7 c.T525C p.P175P exonic ENSG00000147459.18 . synonymous SNV ENSG00000147459.18:ENST00000276440.12:exon7:c.T525C:p.P175P 8p21.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK5 223 0 171 37 0.177884615384615 TRUE TRUE +ENSG00000147655.12 . BCM GRCh38.p13 chr8 107958168 107958168 + A A T Silent SNP ENST00000276659.10 exon5 c.T528A p.I176I exonic ENSG00000147655.12 . synonymous SNV ENSG00000147655.12:ENST00000276659.10:exon5:c.T528A:p.I176I 8q23.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSPO2 234 0 181 55 0.233050847457627 TRUE NA +ENSG00000150275.18 . BCM GRCh38.p13 chr10 54185134 54185134 + C C T Silent SNP ENST00000320301.10 exon12 c.G1440A p.S480S exonic ENSG00000150275.18 . synonymous SNV ENSG00000150275.18:ENST00000320301.10:exon12:c.G1440A:p.S480S 10q21.1 C3L-00079 5.777e-05 0 0.0003 0.0003 0 1.501e-05 0 0 rs778730996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57298970;OCCURENCE=1(ovary) PCDH15 268 0 241 42 0.148409893992933 TRUE TRUE +ENSG00000180644.8 . BCM GRCh38.p13 chr10 70600522 70600522 + G G A Silent SNP ENST00000441259.2 exon2 c.C381T p.N127N exonic ENSG00000180644.8 . synonymous SNV ENSG00000180644.8:ENST00000441259.2:exon2:c.C381T:p.N127N 10q22.1 C3L-00079 2.49e-05 9.733e-05 0 0 0 1.51e-05 0 6.061e-05 rs531190813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64615992;OCCURENCE=1(oesophagus) PRF1 246 0 179 76 0.298039215686275 TRUE TRUE +ENSG00000215182.8 . BCM GRCh38.p13 chr11 1194621 1194621 + C C T Silent SNP ENST00000621226.2 exon35 c.C15141T p.S5047S exonic ENSG00000215182.8 . synonymous SNV ENSG00000215182.8:ENST00000621226.2:exon35:c.C15141T:p.S5047S 11p15.5 C3L-00079 9.276e-06 0 0 0 0 1.699e-05 0 0 rs753199518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5AC 171 0 140 10 0.0666666666666667 TRUE NA +ENSG00000165323.15 . BCM GRCh38.p13 chr11 92354911 92354911 + C C T Silent SNP ENST00000409404.6 exon1 c.C2799T p.S933S exonic ENSG00000165323.15 . synonymous SNV ENSG00000165323.15:ENST00000409404.6:exon1:c.C2799T:p.S933S 11q14.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT3 268 0 198 41 0.171548117154812 TRUE TRUE +ENSG00000149294.16 . BCM GRCh38.p13 chr11 113260244 113260244 + G G T Silent SNP ENST00000316851.11 exon17 c.G2052T p.V684V exonic ENSG00000149294.16 . synonymous SNV ENSG00000149294.16:ENST00000316851.11:exon17:c.G2052T:p.V684V 11q23.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57509868;OCCURENCE=1(autonomic_ganglia) NCAM1 122 1 103 15 0.127118644067797 TRUE TRUE +ENSG00000149577.16 . BCM GRCh38.p13 chr11 117186191 117186191 + G G A Silent SNP ENST00000324225.9 exon9 c.G930A p.L310L exonic ENSG00000149577.16 . synonymous SNV ENSG00000149577.16:ENST00000324225.9:exon9:c.G930A:p.L310L 11q23.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIDT2 200 0 147 27 0.155172413793103 TRUE TRUE +ENSG00000134909.18 . BCM GRCh38.p13 chr11 128986032 128986032 + G G A Silent SNP ENST00000310343.13 exon14 c.C1455T p.V485V exonic ENSG00000134909.18 . synonymous SNV ENSG00000134909.18:ENST00000310343.13:exon14:c.C1455T:p.V485V 11q24.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP32 253 0 230 36 0.135338345864662 TRUE TRUE +ENSG00000151067.22 . BCM GRCh38.p13 chr12 2567669 2567669 + C C A Silent SNP ENST00000399655.6 exon13 c.C1770A p.R590R exonic ENSG00000151067.22 . synonymous SNV ENSG00000151067.22:ENST00000399655.6:exon13:c.C1770A:p.R590R 12p13.33 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1C 141 0 102 17 0.142857142857143 TRUE TRUE +ENSG00000134532.19 . BCM GRCh38.p13 chr12 23534423 23534423 + T T G Silent SNP ENST00000451604.7 exon15 c.A2088C p.S696S exonic ENSG00000134532.19 . synonymous SNV ENSG00000134532.19:ENST00000451604.7:exon15:c.A2088C:p.S696S 12p12.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOX5 356 1 263 22 0.0771929824561404 TRUE TRUE +ENSG00000135437.10 . BCM GRCh38.p13 chr12 55721349 55721349 + C C G Silent SNP ENST00000257895.10 exon2 c.C165G p.V55V exonic ENSG00000135437.10 . synonymous SNV ENSG00000135437.10:ENST00000257895.10:exon2:c.C165G:p.V55V 12q13.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RDH5 247 0 195 13 0.0625 TRUE TRUE +ENSG00000246922.8 . BCM GRCh38.p13 chr15 65094544 65094544 + C C T Silent SNP ENST00000559089.5 exon5 c.G942A p.L314L exonic ENSG00000246922.8 . synonymous SNV ENSG00000246922.8:ENST00000559089.5:exon5:c.G942A:p.L314L 15q22.31 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBAP1L 204 0 124 61 0.32972972972973 TRUE TRUE +ENSG00000187535.14 . BCM GRCh38.p13 chr16 1607171 1607171 + A A C Silent SNP ENST00000426508.7 exon3 c.T96G p.V32V exonic ENSG00000187535.14 . synonymous SNV ENSG00000187535.14:ENST00000426508.7:exon3:c.T96G:p.V32V 16p13.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFT140 190 0 194 14 0.0673076923076923 TRUE TRUE +ENSG00000167208.15 . BCM GRCh38.p13 chr16 50673727 50673727 + G G A Silent SNP ENST00000330943.9 exon4 c.C630T p.R210R exonic ENSG00000167208.15 . synonymous SNV ENSG00000167208.15:ENST00000330943.9:exon4:c.C630T:p.R210R 16q12.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX20 48 0 47 4 0.0784313725490196 TRUE NA +ENSG00000103241.7 . BCM GRCh38.p13 chr16 86513052 86513052 + C C T Silent SNP ENST00000262426.6 exon2 c.C1107T p.V369V exonic ENSG00000103241.7 . synonymous SNV ENSG00000103241.7:ENST00000262426.6:exon2:c.C1107T:p.V369V 16q24.1 C3L-00079 8.317e-06 0 0 0 0 0 0 6.06e-05 rs773537585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXF1 326 1 240 25 0.0943396226415094 TRUE NA +ENSG00000075643.6 . BCM GRCh38.p13 chr18 36199686 36199686 + C C T Silent SNP ENST00000261326.6 exon4 c.C303T p.I101I exonic ENSG00000075643.6 . synonymous SNV ENSG00000075643.6:ENST00000261326.6:exon4:c.C303T:p.I101I 18q12.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54346997;OCCURENCE=1(skin) MOCOS 221 0 146 21 0.125748502994012 TRUE TRUE +ENSG00000105701.16 . BCM GRCh38.p13 chr19 18539710 18539710 + C C A Silent SNP ENST00000596558.6 exon3 c.G303T p.L101L exonic ENSG00000105701.16 . synonymous SNV ENSG00000105701.16:ENST00000596558.6:exon3:c.G303T:p.L101L 19p13.11 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FKBP8 116 0 79 16 0.168421052631579 TRUE TRUE +ENSG00000105701.16 . BCM GRCh38.p13 chr19 18541782 18541782 + C C T Silent SNP ENST00000596558.6 exon2 c.G189A p.A63A exonic ENSG00000105701.16 . synonymous SNV ENSG00000105701.16:ENST00000596558.6:exon2:c.G189A:p.A63A 19p13.11 C3L-00079 2.544e-05 0.0003 0 0 0 0 0 0 rs368959673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FKBP8 247 0 233 20 0.0790513833992095 TRUE NA +ENSG00000170608.3 . BCM GRCh38.p13 chr19 45872257 45872257 + C C T Silent SNP ENST00000302177.3 exon2 c.C252T p.S84S exonic ENSG00000170608.3 . synonymous SNV ENSG00000170608.3:ENST00000302177.3:exon2:c.C252T:p.S84S 19q13.32 C3L-00079 2.598e-05 0 0 0.0001 0 3.144e-05 0 0 rs763346655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56215043;OCCURENCE=2(large_intestine) FOXA3 95 1 84 17 0.168316831683168 TRUE NA +ENSG00000167077.13 . BCM GRCh38.p13 chr22 41699655 41699655 + G G A Silent SNP ENST00000401548.8 exon1 c.G117A p.V39V exonic ENSG00000167077.13 . synonymous SNV ENSG00000167077.13:ENST00000401548.8:exon1:c.G117A:p.V39V 22q13.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEI1 105 0 178 13 0.0680628272251309 TRUE TRUE +ENSG00000117507.6 . BCM GRCh38.p13 chr1 171147655 171147655 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000117507.6 . . . 1q24.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMO6P 239 0 163 43 0.20873786407767 TRUE NA +ENSG00000143469.20 . BCM GRCh38.p13 chr1 210163787 210163787 + G G A IGR SNP NA NA NA NA intergenic ENSG00000143469.20;ENSG00000203706.8 dist=1461;dist=67669 . . 1q32.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55055689;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) SYT14 409 0 317 26 0.075801749271137 TRUE NA +ENSG00000163016.10 . BCM GRCh38.p13 chr2 73673899 73673899 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000163016.10 . . . 2p13.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALMS1P1 200 0 138 51 0.26984126984127 TRUE NA +ENSG00000222031.1 . BCM GRCh38.p13 chr2 151001365 151001365 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000222031.1 . . . 2q23.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC023469.1 168 0 147 10 0.0636942675159236 TRUE NA +ENSG00000106049.9 . BCM GRCh38.p13 chr7 27647711 27647711 + G G A Intron SNP NA NA NA NA intronic ENSG00000106049.9 . . . 7p15.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIBADH 56 0 52 5 0.087719298245614 TRUE TRUE +ENSG00000232445.2 . BCM GRCh38.p13 chr7 101310878 101310878 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000232445.2 . . . 7q22.1 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EMSLR 72 0 64 5 0.072463768115942 TRUE NA +ENSG00000104237.11 . BCM GRCh38.p13 chr8 54656082 54656082 + G G A IGR SNP NA NA NA NA intergenic ENSG00000104237.11;ENSG00000253114.2 dist=25248;dist=40316 . . 8q12.1 C3L-00079 . . . . . . . . . 1.1 . . . . . . . . . . . . . . . . . . . . . . . 3.307 24.100 0.976 D . 0.793 8.648 0.563 5.787 0.003 0.061 0.063 0.063 0.059 0.590 5.250 4.370 4.823 1.176 0.618 1.000 0.492 0.562 791 . . . . RP1 76 0 71 5 0.0657894736842105 TRUE TRUE +ENSG00000183020.14 . BCM GRCh38.p13 chr11 1011196 1011199 + GGCA GGCA - 3'UTR DEL NA NA NA NA UTR3 ENSG00000183020.14 ENST00000448903.7:c.*571_*574delGGCA . . 11p15.5 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP2A2 146 0 117 13 0.1 TRUE NA +ENSG00000133103.17 . BCM GRCh38.p13 chr13 39678113 39678113 + C C T Intron SNP NA NA NA NA intronic ENSG00000133103.17 . . . 13q14.11 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COG6 29 0 39 3 0.0714285714285714 TRUE NA +ENSG00000089916.18 . BCM GRCh38.p13 chr14 76152794 76152794 + - NA T Intron SNP NA NA NA NA intronic ENSG00000089916.18 . . . 14q24.3 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPATCH2L NA NA NA NA NA NA NA +ENSG00000153822.13 . BCM GRCh38.p13 chr17 70132028 70132028 + A A T 5'UTR SNP NA NA NA NA UTR5 ENSG00000153822.13 ENST00000615244.4:c.-60A>T . . 17q24.3 C3L-00079 . . . . . . . . . 3.9 . D . . . N . D . 0.129 . . T . . 0.754 . . . D T . T -0.357 0.236 0.570 N N . . . . 1.000 0.487 0.547 0.574 0.613 . 5.990 -12.000 -0.294 -0.050 -0.050 0.000 0.000 0.003 878 . . . . KCNJ16 117 0 81 39 0.325 TRUE TRUE +ENSG00000149633.12 . BCM GRCh38.p13 chr20 38222605 38222605 + C C A Intron SNP NA NA NA NA intronic ENSG00000149633.12 . . . 20q11.23 C3L-00079 . . . . . . . . rs762034055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1755 135 0 166 17 0.092896174863388 TRUE NA +ENSG00000124164.16 . BCM GRCh38.p13 chr20 58445626 58445626 + G G T 3'UTR SNP NA NA NA NA UTR3 ENSG00000124164.16 ENST00000475243.6:c.*1391G>T . . 20q13.32 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAPB 338 0 196 99 0.335593220338983 TRUE NA +ENSG00000104671.8 . BCM GRCh38.p13 chr8 30179426 30179427 + TG TG CT Unknown MNP ENST00000221114.8 exon5 c.302_303delinsCT p.M101T exonic ENSG00000104671.8 . nonframeshift substitution ENSG00000104671.8:ENST00000221114.8:exon5:c.302_303delinsCT:p.M101T 8p12 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCTN6 112 16 83 15 0.153061224489796 TRUE NA +ENSG00000100403.12 . BCM GRCh38.p13 chr22 41357279 41357281 + GAA GAA TAG Unknown MNP ENST00000352645.5 exon23 c.2784_2786delinsTAG p.Q928_K929delinsHR exonic ENSG00000100403.12 . nonframeshift substitution ENSG00000100403.12:ENST00000352645.5:exon23:c.2784_2786delinsTAG:p.Q928_K929delinsHR 22q13.2 C3L-00079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZC3H7B 430 34 352 34 0.0880829015544041 TRUE NA +ENSG00000130764.10 . BCM GRCh38.p13 chr1 3795936 3795936 + G G A Missense_Mutation SNP ENST00000378251.3 exon1 c.C541T p.L181F exonic ENSG00000130764.10 . nonsynonymous SNV ENSG00000130764.10:ENST00000378251.3:exon1:c.C541T:p.L181F 1p36.32 C3L-00088 1.45e-05 0.0002 0 0 0 0 0 0 rs186336583 11.20 D D P B D D H T D 0.631 T T D 0.245 . 0.427 0.753 D T T T D T 3.066 23.600 0.997 D D 0.527 5.254 0.475 4.938 1.000 0.726 0.522 0.594 0.628 . 4.040 4.040 9.243 1.176 0.676 1.000 1.000 0.996 952 . . . . LRRC47 143 0 60 18 0.230769230769231 TRUE NA +ENSG00000069812.11 . BCM GRCh38.p13 chr1 6419799 6419799 + C C T Missense_Mutation SNP ENST00000377834.8 exon1 c.G22A p.G8R exonic ENSG00000069812.11 . nonsynonymous SNV ENSG00000069812.11:ENST00000377834.8:exon1:c.G22A:p.G8R 1p36.31 C3L-00088 . . . . . . . . . 2.20 T T P B N N N T N 0.189 T T D 0.092 0.229 0.645 2.081 D T T T T T 1.230 13.870 0.997 N N -0.730 0.763 -0.714 0.880 1.000 0.658 0.552 0.607 0.604 . 4.060 3.120 0.070 -0.004 -0.472 0.000 0.080 0.790 829 . . . . HES2 185 0 71 30 0.297029702970297 TRUE TRUE +ENSG00000085998.14 . BCM GRCh38.p13 chr1 46189865 46189865 + G G T Missense_Mutation SNP ENST00000371984.8 exon20 c.C1774A p.Q592K exonic ENSG00000085998.14 . nonsynonymous SNV ENSG00000085998.14:ENST00000371984.8:exon20:c.C1774A:p.Q592K 1p34.1 C3L-00088 . . . . . . . . . 8.20 T T B B D D L T N 0.569 T T D 0.295 0.428 0.795 0.449 T T D T D D 2.533 22.500 0.977 D D 0.163 3.145 0.348 4.009 1.000 0.732 0.710 0.744 0.714 . 5.920 5.920 7.106 1.176 0.676 1.000 1.000 0.997 93 . . . . POMGNT1 220 1 114 28 0.197183098591549 TRUE TRUE +ENSG00000016490.16 . BCM GRCh38.p13 chr1 86476503 86476503 + - NA A Frame_Shift_Ins INS ENST00000394711.2 exon4 c.508dupA p.N170Kfs*2 exonic ENSG00000016490.16 . frameshift insertion ENSG00000016490.16:ENST00000394711.2:exon4:c.508dupA:p.N170Kfs*2 1p22.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLCA1 NA NA NA NA NA NA NA +ENSG00000116396.14 . BCM GRCh38.p13 chr1 110223064 110223064 + T T C Missense_Mutation SNP ENST00000369787.7 exon2 c.T779C p.I260T exonic ENSG00000116396.14 . nonsynonymous SNV ENSG00000116396.14:ENST00000369787.7:exon2:c.T779C:p.I260T 1p13.3 C3L-00088 . . . . . . . . . 4.20 T T B B N N N D N 0.036 T T D 0.285 0.583 0.994 1.257 T T T T T D 1.870 18.250 0.428 D N -0.589 1.007 -0.362 1.443 0.910 0.706 0.588 0.710 0.636 . 4.750 4.750 1.820 1.138 0.665 0.958 0.967 0.875 702 Ion_transport_domain . . . KCNC4 242 0 135 43 0.241573033707865 TRUE TRUE +ENSG00000116793.16 . BCM GRCh38.p13 chr1 113724864 113724864 + C C G Missense_Mutation SNP ENST00000369604.6 exon7 c.G518C p.G173A exonic ENSG00000116793.16 . nonsynonymous SNV ENSG00000116793.16:ENST00000369604.6:exon7:c.G518C:p.G173A 1p13.2 C3L-00088 . . . . . . . . . 6.19 D T B B N D M . N 0.358 T T T 0.010 0.151 0.132 0.398 T T T T D D 2.009 19.320 0.996 D N -0.135 2.067 0.022 2.437 0.247 0.732 0.709 0.651 0.728 . 5.140 4.220 3.088 1.026 0.599 1.000 0.999 0.993 675 . . . . PHTF1 155 0 93 18 0.162162162162162 TRUE TRUE +ENSG00000117262.19 . BCM GRCh38.p13 chr1 145669876 145669876 + A A G Missense_Mutation SNP ENST00000313835.14 exon14 c.A1204G p.M402V exonic ENSG00000117262.19 . nonsynonymous SNV ENSG00000117262.19:ENST00000313835.14:exon14:c.A1204G:p.M402V 1q21.1 C3L-00088 . . . . . . . . . 2.6 T T . . . . . . N 0.691 . . . . . . . . T . . . D 2.301 21.600 . . D . . . . . . . . . . . . 9.148 1.226 0.376 1.000 1.000 0.915 272 Abscisic_acid_G-protein_coupled_receptor-like_domain . . . GPR89A 88 0 50 15 0.230769230769231 NA TRUE +ENSG00000178104.19 . BCM GRCh38.p13 chr1 149003709 149003709 + C C G Missense_Mutation SNP ENST00000369354.7 exon26 c.C3865G p.R1289G exonic ENSG00000178104.19 . nonsynonymous SNV ENSG00000178104.19:ENST00000369354.7:exon26:c.C3865G:p.R1289G 1q21.2 C3L-00088 . . . . . . . . rs587646978 5.7 D D . . . . . T D 0.636 . . . . . . . . T . . . D 3.943 26.600 . . D . . . . . . . . . . . . 3.391 0.064 0.444 1.000 0.987 0.842 . . . . . PDE4DIP 96 0 62 14 0.184210526315789 NA TRUE +ENSG00000163125.15 . BCM GRCh38.p13 chr1 150441937 150441937 + A A G Missense_Mutation SNP ENST00000369068.4 exon4 c.A493G p.K165E exonic ENSG00000163125.15 . nonsynonymous SNV ENSG00000163125.15:ENST00000369068.4:exon4:c.A493G:p.K165E 1q21.2 C3L-00088 . . . . . . . . . 5.20 T T B B D D L T N 0.379 T T T 0.131 0.266 0.498 1.682 T T T T D T 2.463 22.300 0.998 D D -0.036 2.387 0.166 3.021 0.999 0.615 0.654 0.659 0.636 . 5.220 5.220 5.501 1.312 0.756 1.000 1.000 1.000 80 . . . . RPRD2 189 0 142 39 0.215469613259669 TRUE NA +ENSG00000143622.11 . BCM GRCh38.p13 chr1 155910751 155910751 + C C G Missense_Mutation SNP ENST00000368323.8 exon2 c.G11C p.G4A exonic ENSG00000143622.11 . nonsynonymous SNV ENSG00000143622.11:ENST00000368323.8:exon2:c.G11C:p.G4A 1q22 C3L-00088 . . . . . . . . . 3.20 D T B B N D N T N 0.302 T T D 0.079 0.247 0.508 0.842 T T T T T T 1.801 17.740 0.929 N N -0.700 0.812 -0.630 1.001 1.000 0.628 0.522 0.672 0.562 . 4.830 4.830 1.586 1.026 0.599 0.068 0.008 0.055 70 . . . . RIT1 230 0 112 33 0.227586206896552 TRUE TRUE +ENSG00000143248.13 . BCM GRCh38.p13 chr1 163161916 163161916 + G G C Missense_Mutation SNP ENST00000313961.10 exon3 c.C216G p.N72K exonic ENSG00000143248.13 . nonsynonymous SNV ENSG00000143248.13:ENST00000313961.10:exon3:c.C216G:p.N72K 1q23.3 C3L-00088 . . . . . . . . . 3.20 T T B B N D N T N 0.166 T T T 0.087 0.428 0.158 0.205 T T T T T T 1.377 14.920 0.751 D D -0.940 0.472 -0.682 0.926 1.000 0.757 0.588 0.710 0.657 . 5.200 2.140 0.671 1.176 0.674 0.995 0.965 0.405 933 RGS_domain;Regulator_of_G-protein_signalling_5,_RGS_domain . . . RGS5 234 0 122 44 0.265060240963855 TRUE TRUE +ENSG00000143183.16 . BCM GRCh38.p13 chr1 165768773 165768773 + T T G Missense_Mutation SNP ENST00000612311.4 exon1 c.A132C p.R44S exonic ENSG00000143183.16 . nonsynonymous SNV ENSG00000143183.16:ENST00000612311.4:exon1:c.A132C:p.R44S 1q24.1 C3L-00088 . . . . . . . . . 1.10 . T . . . N . . . 0.266 . . T . . 0.376 0.626 T T T T . T 2.160 20.600 0.747 D N . . . . 1.000 0.442 0.522 0.522 0.562 . 4.970 -0.762 0.518 0.156 0.587 0.777 0.273 0.309 900 . . . . TMCO1 435 1 222 81 0.267326732673267 TRUE TRUE +ENSG00000135824.12 . BCM GRCh38.p13 chr1 182646908 182646908 + C C A Missense_Mutation SNP ENST00000483095.6 exon7 c.G370T p.D124Y exonic ENSG00000135824.12 . nonsynonymous SNV ENSG00000135824.12:ENST00000483095.6:exon7:c.G370T:p.D124Y 1q25.3 C3L-00088 . . . . . . . . . 16.20 D D D D D D H T D 0.959 T T D 0.724 0.859 0.527 1.491 D T D D D D 3.764 25.700 0.995 D D 0.906 11.196 0.807 10.344 1.000 0.487 0.547 0.547 0.564 . 4.940 4.940 7.642 1.022 0.545 1.000 0.985 0.937 816 Regulator_of_G-protein_signalling_8,_RGS_domain;RGS_domain . . . RGS8 122 0 77 22 0.222222222222222 TRUE TRUE +ENSG00000182118.8 . BCM GRCh38.p13 chr1 231040163 231040163 + G G A Missense_Mutation SNP ENST00000366654.5 exon1 c.C49T p.R17W exonic ENSG00000182118.8 . nonsynonymous SNV ENSG00000182118.8:ENST00000366654.5:exon1:c.C49T:p.R17W 1q42.2 C3L-00088 . . . . . . . . rs980772507 3.19 T D B B N N L . N 0.227 T T D 0.100 0.473 0.040 0.299 D T T T T T 2.476 22.400 0.987 N N -0.658 0.886 -0.659 0.959 1.000 0.455 0.609 0.607 0.619 . 3.870 1.780 0.570 0.015 0.512 0.006 0.378 0.045 650 . . . . FAM89A 28 0 22 12 0.352941176470588 TRUE NA +ENSG00000143669.14 . BCM GRCh38.p13 chr1 235809164 235809164 + C C G Missense_Mutation SNP ENST00000389793.7 exon5 c.G1654C p.V552L exonic ENSG00000143669.14 . nonsynonymous SNV ENSG00000143669.14:ENST00000389793.7:exon5:c.G1654C:p.V552L 1q42.3 C3L-00088 8.248e-06 0 0 0 0 1.5e-05 0 0 rs770087096 9.20 T D P P D D L T N 0.563 T T D 0.158 0.221 0.474 0.373 T T D T D D 2.844 23.100 0.997 D D 0.592 5.841 0.563 5.790 1.000 0.554 0.588 0.492 0.568 . 5.460 5.460 7.376 1.026 0.599 1.000 0.554 0.647 830 . . . . LYST 264 1 133 49 0.269230769230769 TRUE NA +ENSG00000134318.14 . BCM GRCh38.p13 chr2 11235750 11235750 + A A - Frame_Shift_Del DEL ENST00000315872.11 exon5 c.675delT p.H225Qfs*4 exonic ENSG00000134318.14 . frameshift deletion ENSG00000134318.14:ENST00000315872.11:exon5:c.675delT:p.H225Qfs*4 2p25.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ROCK2 241 0 89 33 0.270491803278689 TRUE TRUE +ENSG00000084754.12 . BCM GRCh38.p13 chr2 26214535 26214535 + G G A Missense_Mutation SNP ENST00000380649.8 exon9 c.C826T p.P276S exonic ENSG00000084754.12 . nonsynonymous SNV ENSG00000084754.12:ENST00000380649.8:exon9:c.C826T:p.P276S 2p23.3 C3L-00088 . . . . . . . . . 5.20 T T B B D D L T N 0.409 T T T 0.072 0.417 0.774 0.242 T T T T T D 2.638 22.700 0.977 D D 0.020 2.582 0.222 3.291 0.558 0.732 0.725 0.744 0.714 . 5.550 5.550 4.462 1.176 0.618 1.000 1.000 0.997 684 . . . . HADHA 491 0 246 113 0.314763231197772 TRUE NA +ENSG00000152147.11 . BCM GRCh38.p13 chr2 38781890 38781890 + T T - Nonstop_Mutation SNP ENST00000281950.8 exon3 c.502delT p.*168delinsERPGSVNILIEKDYILSLIKCFKCKCT* exonic ENSG00000152147.11 . stoploss ENSG00000152147.11:ENST00000281950.8:exon3:c.502delT:p.*168delinsERPGSVNILIEKDYILSLIKCFKCKCT* 2p22.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GEMIN6 119 0 43 11 0.203703703703704 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142113 10142113 + T T C Missense_Mutation SNP ENST00000256474.3 exon1 c.T266C p.L89P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T266C:p.L89P 3p25.3 C3L-00088 . . . . . . . . rs5030807 18.20 D D D D D D L D D 0.929 D D D 0.931 0.886 0.997 1.374 D D D D D T 4.549 32 0.999 D D 0.549 5.436 0.546 5.602 1.000 0.442 0.522 0.522 0.373 . 5.060 5.060 4.903 0.971 0.576 1.000 0.990 0.925 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543561;OCCURENCE=10(kidney),1(pancreas),1(lung) VHL 431 1 181 70 0.278884462151394 TRUE TRUE +ENSG00000244607.7 . BCM GRCh38.p13 chr3 42732918 42732918 + A A - Frame_Shift_Del DEL ENST00000310232.11 exon12 c.1564delT p.S522Pfs*139 exonic ENSG00000244607.7;ENSG00000280571.2 . frameshift deletion ENSG00000244607.7:ENST00000310232.11:exon12:c.1564delT:p.S522Pfs*139,ENSG00000280571.2:ENST00000648550.1:exon13:c.1633delT:p.S545Pfs*139 3p22.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC13 237 0 80 31 0.279279279279279 TRUE TRUE +ENSG00000151470.13 . BCM GRCh38.p13 chr4 129109584 129109584 + G G A Missense_Mutation SNP ENST00000425929.6 exon5 c.G406A p.A136T exonic ENSG00000151470.13 . nonsynonymous SNV ENSG00000151470.13:ENST00000425929.6:exon5:c.G406A:p.A136T 4q28.2 C3L-00088 8.283e-06 0 0 0 0 1.506e-05 0 0 rs749633073 15.19 D D D D D D M T D 0.832 T T D 0.487 0.654 0.708 0.382 . T D D D D 3.969 26.800 0.999 D D 0.960 12.720 0.922 14.704 1.000 0.706 0.710 0.659 0.655 . 5.610 5.610 9.362 1.176 0.676 1.000 1.000 0.984 527 . . . . C4orf33 333 0 201 66 0.247191011235955 TRUE NA +ENSG00000183090.5 . BCM GRCh38.p13 chr4 143698365 143698365 + G G C Missense_Mutation SNP ENST00000329798.5 exon1 c.C2311G p.L771V exonic ENSG00000183090.5 . nonsynonymous SNV ENSG00000183090.5:ENST00000329798.5:exon1:c.C2311G:p.L771V 4q31.21 C3L-00088 . . . . . . . . . 0.18 T T . . N N N T N 0.008 T T T 0.071 0.371 0.088 . T T T T T T 1.143 13.170 0.609 N N -0.586 1.014 -0.581 1.076 0.534 0.554 0.574 0.618 0.530 . 3.840 3.840 0.532 0.153 -0.107 0.000 0.106 0.252 811 . . . . FREM3 317 0 137 62 0.311557788944724 TRUE TRUE +ENSG00000095015.6 . BCM GRCh38.p13 chr5 56882124 56882130 + ATTCCCA ATTCCCA - Nonsense_Mutation DEL ENST00000399503.4 exon14 c.2924_2930del p.S976* exonic ENSG00000095015.6 . stopgain ENSG00000095015.6:ENST00000399503.4:exon14:c.2924_2930del:p.S976* 5q11.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K1 281 0 135 37 0.215116279069767 TRUE TRUE +ENSG00000145700.10 . BCM GRCh38.p13 chr5 75147301 75147301 + T T C Missense_Mutation SNP ENST00000274361.3 exon14 c.A2110G p.I704V exonic ENSG00000145700.10 . nonsynonymous SNV ENSG00000145700.10:ENST00000274361.3:exon14:c.A2110G:p.I704V 5q13.3 C3L-00088 . . . . . . . . . 1.20 D T B B N N N T N 0.069 T T T 0.036 0.330 0.072 . T T T T T T 0.606 7.573 0.975 N N -0.740 0.746 -0.708 0.889 0.001 0.487 0.574 0.547 0.542 . 4.920 3.750 1.494 0.969 0.665 0.017 0.161 0.902 850 . . . . ANKRD31 152 0 61 33 0.351063829787234 TRUE TRUE +ENSG00000086570.12 . BCM GRCh38.p13 chr5 151542693 151542697 + CTGGC CTGGC - Frame_Shift_Del DEL ENST00000261800.5 exon9 c.8430_8434del p.M2810Ifs*12 exonic ENSG00000086570.12 . frameshift deletion ENSG00000086570.12:ENST00000261800.5:exon9:c.8430_8434del:p.M2810Ifs*12 5q33.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT2 323 0 207 42 0.168674698795181 TRUE TRUE +ENSG00000010017.13 . BCM GRCh38.p13 chr6 13642541 13642541 + G G C Missense_Mutation SNP ENST00000011619.6 exon7 c.C1163G p.A388G exonic ENSG00000010017.13 . nonsynonymous SNV ENSG00000010017.13:ENST00000011619.6:exon7:c.C1163G:p.A388G 6p23 C3L-00088 . . . . . . . . . 18.20 D D D D D D M T D 0.590 D D D 0.757 0.530 0.817 1.945 T D D D D D 4.293 29.500 0.998 D D 0.980 13.320 0.947 15.943 1.000 0.732 0.744 0.710 0.728 . 5.750 5.750 9.602 1.176 0.676 1.000 1.000 1.000 738 LIS1_homology_motif . . . RANBP9 153 0 94 35 0.271317829457364 TRUE TRUE +ENSG00000112659.14 . BCM GRCh38.p13 chr6 43185531 43185531 + A A G Missense_Mutation SNP ENST00000252050.9 exon3 c.A671G p.Y224C exonic ENSG00000112659.14 . nonsynonymous SNV ENSG00000112659.14:ENST00000252050.9:exon3:c.A671G:p.Y224C 6p21.1 C3L-00088 . . . . . . . . rs369512270 3.20 T T B B N D N T N 0.609 T T T 0.189 . 0.738 1.213 T T T T T D 2.234 21.100 0.723 D N -0.283 1.657 -0.115 2.006 1.000 0.707 0.725 0.659 0.636 . 4.360 3.190 2.214 1.312 0.756 1.000 1.000 0.991 305 . . . . CUL9 175 0 101 24 0.192 TRUE NA +ENSG00000146263.11 . BCM GRCh38.p13 chr6 97267982 97267982 + G G A Nonsense_Mutation SNP ENST00000275053.8 exon8 c.C718T p.Q240X exonic ENSG00000146263.11 . stopgain ENSG00000146263.11:ENST00000275053.8:exon8:c.C718T:p.Q240X 6q16.1 C3L-00088 . . . . . . . . . 5.6 . . . . D A . . . 0.393 . . . . . . . . . D D . . 7.567 38 0.997 D N 0.724 7.466 0.562 5.774 0.873 0.745 0.732 0.725 0.684 . 5.260 4.380 3.022 0.198 -0.249 1.000 1.000 0.990 735 Protein_MMS22-like,_N-terminal . . ID=COSV51519991;OCCURENCE=1(lung) MMS22L 146 2 78 23 0.227722772277228 TRUE TRUE +ENSG00000080546.13 . BCM GRCh38.p13 chr6 108990694 108990694 + T T A Missense_Mutation SNP ENST00000356644.7 exon8 c.A1198T p.M400L exonic ENSG00000080546.13 . nonsynonymous SNV ENSG00000080546.13:ENST00000356644.7:exon8:c.A1198T:p.M400L 6q21 C3L-00088 . . . . . . . . . 8.20 T T B B D D M T N 0.586 T T T 0.111 0.569 0.360 0.328 D T T T D D 2.649 22.700 0.959 D D 0.032 2.626 0.217 3.268 1.000 0.732 0.670 0.744 0.728 . 5.560 5.560 7.631 1.138 0.665 1.000 1.000 1.000 688 . . . . SESN1 397 0 233 56 0.193771626297578 TRUE TRUE +ENSG00000196911.11 . BCM GRCh38.p13 chr6 116692125 116692125 + C C T Missense_Mutation SNP ENST00000368564.7 exon3 c.C209T p.P70L exonic ENSG00000196911.11 . nonsynonymous SNV ENSG00000196911.11:ENST00000368564.7:exon3:c.C209T:p.P70L 6q22.1 C3L-00088 . . . . . . . . . 5.17 T T . . D D . T N 0.467 T T T 0.064 0.423 0.353 0.248 T T T T D D 3.481 24.600 0.966 D N -0.128 2.087 0.098 2.728 1.000 0.706 0.710 0.659 0.655 . 6.000 5.130 7.275 0.859 0.549 1.000 0.995 0.993 553 Importin-alpha,_importin-beta-binding_domain . . . KPNA5 260 1 153 39 0.203125 TRUE TRUE +ENSG00000152822.14 . BCM GRCh38.p13 chr6 146399222 146399222 + A A G Missense_Mutation SNP ENST00000282753.6 exon7 c.A2183G p.E728G exonic ENSG00000152822.14 . nonsynonymous SNV ENSG00000152822.14:ENST00000282753.6:exon7:c.A2183G:p.E728G 6q24.3 C3L-00088 . . . . . . . . . 19.20 D D D D D D M D D 0.811 D D D 0.910 0.625 0.884 1.875 T D D D D D 4.146 28.200 0.999 D D 0.822 9.225 0.803 10.211 1.000 0.554 0.574 0.547 0.621 . 5.510 5.510 9.325 1.312 0.691 1.000 1.000 0.984 288 GPCR_family_3,_C-terminal . . . GRM1 468 0 210 65 0.236363636363636 TRUE TRUE +ENSG00000155918.8 . BCM GRCh38.p13 chr6 150022183 150022183 + C C A Missense_Mutation SNP ENST00000367341.6 exon2 c.G146T p.W49L exonic ENSG00000155918.8 . nonsynonymous SNV ENSG00000155918.8:ENST00000367341.6:exon2:c.G146T:p.W49L 6q25.1 C3L-00088 . . . . . . . . . 3.18 D T P P . N . T D 0.390 T T T 0.143 0.926 0.220 4.220 T T T T D T 1.453 15.430 0.962 N N -0.698 0.816 -0.975 0.521 0.000 0.624 0.590 0.590 0.580 . 1.910 -0.880 -0.330 -0.483 -0.184 0.000 0.000 0.001 299 MHC_class_I-like_antigen_recognition-like . . . RAET1L 396 1 239 44 0.15547703180212 NA TRUE +ENSG00000049618.24 . BCM GRCh38.p13 chr6 156935553 156935553 + C C T Nonsense_Mutation SNP ENST00000636930.2 exon4 c.C2224T p.Q742X exonic ENSG00000049618.24 . stopgain ENSG00000049618.24:ENST00000636930.2:exon4:c.C2224T:p.Q742X 6q25.3 C3L-00088 . . . . . . . . . 5.6 . . . . D A . . . 0.951 . . . . . . . . . D D . . 9.094 47 0.998 D N 1.158 20.520 1.017 19.908 1.000 0.706 0.725 0.710 0.613 . 5.710 5.710 5.752 1.026 0.599 1.000 0.994 0.884 979 . . . ID=COSV51652422;OCCURENCE=1(autonomic_ganglia) ARID1B 148 0 79 31 0.281818181818182 TRUE TRUE +ENSG00000086288.12 . BCM GRCh38.p13 chr7 37876968 37876968 + T T A Missense_Mutation SNP ENST00000199447.9 exon12 c.T955A p.L319M exonic ENSG00000086288.12 . nonsynonymous SNV ENSG00000086288.12:ENST00000199447.9:exon12:c.T955A:p.L319M 7p14.1 C3L-00088 . . . . . . . . . 6.20 D D D D N D M T N 0.353 T T T 0.202 0.598 0.430 0.116 T T T T T T 0.770 9.100 0.985 N N -0.427 1.326 -0.658 0.961 0.000 0.554 0.588 0.547 0.564 . 3.910 0.959 -0.790 -0.781 -1.838 0.001 0.034 0.754 921 Nucleoside_diphosphate_kinase-like_domain . . . NME8 354 0 238 13 0.051792828685259 TRUE NA +ENSG00000136273.13 . BCM GRCh38.p13 chr7 47975660 47975660 + T T C Missense_Mutation SNP ENST00000258774.10 exon5 c.A493G p.T165A exonic ENSG00000136273.13 . nonsynonymous SNV ENSG00000136273.13:ENST00000258774.10:exon5:c.A493G:p.T165A 7p12.3 C3L-00088 . . . . . . . . . 7.20 T T B B D D M T N 0.422 T T T 0.160 0.472 0.124 0.066 T T T T D D 3.012 23.400 0.993 D D 0.153 3.100 0.281 3.610 1.000 0.707 0.725 0.576 0.711 . 5.290 5.290 7.387 1.138 0.665 1.000 0.993 1.000 804 . . . . HUS1 202 0 96 35 0.267175572519084 TRUE TRUE +ENSG00000197123.9 . BCM GRCh38.p13 chr7 64266145 64266145 + C C T Missense_Mutation SNP ENST00000421025.3 exon5 c.C512T p.S171F exonic ENSG00000197123.9 . nonsynonymous SNV ENSG00000197123.9:ENST00000421025.3:exon5:c.C512T:p.S171F 7q11.21 C3L-00088 . . . . . . . . . 1.19 T T P B . N L T D 0.172 T T T 0.031 0.317 0.427 0.005 T T T T T T 0.451 5.984 0.682 N N -0.924 0.491 -1.089 0.387 0.000 0.487 0.574 0.574 0.564 . 1.120 -1.110 0.194 -2.055 -0.672 0.000 0.000 0.002 851 Zinc_finger_C2H2-type . . . ZNF679 388 0 191 57 0.229838709677419 NA TRUE +ENSG00000178809.11 . BCM GRCh38.p13 chr7 75399142 75399142 + C C A Missense_Mutation SNP ENST00000323819.7 exon2 c.C209A p.S70Y exonic ENSG00000178809.11 . nonsynonymous SNV ENSG00000178809.11:ENST00000323819.7:exon2:c.C209A:p.S70Y 7q11.23 C3L-00088 . . . . . . . . . 12.20 D D D D D D L D N 0.357 T D D 0.519 0.426 0.679 . D T T T D D 2.848 23.100 0.994 N N 0.168 3.165 0.004 2.374 0.409 0.554 0.588 0.618 0.564 . 2.310 2.310 1.006 0.979 0.482 0.000 0.992 0.710 940 . . . . TRIM73 229 0 113 14 0.110236220472441 NA TRUE +ENSG00000127954.12 . BCM GRCh38.p13 chr7 88283930 88283930 + G G C Missense_Mutation SNP ENST00000380079.8 exon2 c.C340G p.P114A exonic ENSG00000127954.12 . nonsynonymous SNV ENSG00000127954.12:ENST00000380079.8:exon2:c.C340G:p.P114A 7q21.12 C3L-00088 . . . . . . . . . 5.19 T T P B N D L T D 0.196 T T T 0.090 0.463 0.469 0.205 T T T T D D 1.895 18.450 0.989 D . 0.127 2.993 0.256 3.470 0.950 0.487 0.574 0.574 0.564 . 5.910 5.010 3.989 1.176 0.676 1.000 1.000 0.996 888 . . . . STEAP4 432 0 227 76 0.250825082508251 TRUE TRUE +ENSG00000196367.13 . BCM GRCh38.p13 chr7 98956528 98956528 + A A G Missense_Mutation SNP ENST00000359863.8 exon42 c.A6205G p.S2069G exonic ENSG00000196367.13 . nonsynonymous SNV ENSG00000196367.13:ENST00000359863.8:exon42:c.A6205G:p.S2069G 7q22.1 C3L-00088 . . . . . . . . . 7.20 T D B B D D M T N 0.227 T T T 0.095 0.265 0.363 0.830 T T T T D D 2.794 23.000 0.993 D N -0.167 1.972 0.012 2.400 1.000 0.707 0.702 0.725 0.714 . 5.690 4.520 4.668 1.298 0.740 1.000 0.993 0.984 328 . . . . TRRAP 111 0 74 6 0.075 TRUE NA +ENSG00000130429.15 . BCM GRCh38.p13 chr7 99391189 99391189 + T T A Missense_Mutation SNP ENST00000646101.2 exon7 c.T719A p.L240Q exonic ENSG00000130429.15;ENSG00000284292.1 . nonsynonymous SNV ENSG00000130429.15:ENST00000646101.2:exon7:c.T719A:p.L240Q,ENSG00000284292.1:ENST00000638617.1:exon14:c.T1715A:p.L572Q 7q22.1 C3L-00088 . . . . . . . . . 12.20 D D P P D D M T D 0.698 T T D 0.656 0.716 0.816 0.583 T T D D D T 4.055 27.400 0.986 D D 0.444 4.630 0.484 5.018 1.000 0.672 0.702 0.607 0.711 . 5.590 5.590 4.577 1.037 0.651 1.000 0.887 0.869 503 . . . . ARPC1B 149 0 71 35 0.330188679245283 TRUE TRUE +ENSG00000166529.15 . BCM GRCh38.p13 chr7 100063970 100063970 + T T C Missense_Mutation SNP ENST00000292450.9 exon4 c.T775C p.S259P exonic ENSG00000166529.15 . nonsynonymous SNV ENSG00000166529.15:ENST00000292450.9:exon4:c.T775C:p.S259P 7q22.1 C3L-00088 . . . . . . . . . 1.20 D T B B N N L T N 0.224 T T T 0.080 0.194 0.337 0.144 T T T T T T 0.929 10.750 0.985 N N -0.469 1.238 -0.506 1.192 0.995 0.732 0.744 0.702 0.674 . 4.790 3.630 -0.357 1.134 0.661 0.000 0.115 0.698 132 . . . . ZSCAN21 131 0 62 27 0.303370786516854 TRUE TRUE +ENSG00000160993.4 . BCM GRCh38.p13 chr7 102457648 102457648 + T T A Missense_Mutation SNP ENST00000292566.4 exon3 c.A655T p.I219L exonic ENSG00000160993.4 . nonsynonymous SNV ENSG00000160993.4:ENST00000292566.4:exon3:c.A655T:p.I219L 7q22.1 C3L-00088 . . . . . . . . . 0.20 T T B B N N N T N 0.167 T T T 0.008 0.286 0.120 0.246 T T T T T T -0.096 0.845 0.838 N N -1.307 0.161 -1.249 0.245 0.999 0.707 0.577 0.725 0.636 . 4.560 -2.240 -0.840 0.200 0.665 0.000 0.059 0.700 534 . . . . ALKBH4 147 0 48 18 0.272727272727273 TRUE TRUE +ENSG00000105929.16 . BCM GRCh38.p13 chr7 138759867 138759867 + C C G Missense_Mutation SNP ENST00000310018.7 exon8 c.G524C p.G175A exonic ENSG00000105929.16 . nonsynonymous SNV ENSG00000105929.16:ENST00000310018.7:exon8:c.G524C:p.G175A 7q34 C3L-00088 . . . . . . . . . 19.20 D D D D D D H D D 0.958 D D D 0.952 0.954 0.909 0.786 T D D D D D 3.369 24.300 0.997 D D 0.820 9.174 0.646 6.847 1.000 0.554 0.574 0.602 0.568 . 5.560 5.560 7.818 1.026 0.599 1.000 0.273 0.223 867 . . . . ATP6V0A4 621 0 293 95 0.244845360824742 TRUE TRUE +ENSG00000174469.23 . BCM GRCh38.p13 chr7 147132299 147132299 + G G A Missense_Mutation SNP ENST00000361727.8 exon8 c.G1138A p.A380T exonic ENSG00000174469.23 . nonsynonymous SNV ENSG00000174469.23:ENST00000361727.8:exon8:c.G1138A:p.A380T 7q35 C3L-00088 8.246e-06 0 0 0 0 0 0 6.056e-05 rs751589771 7.20 D D B B D D L T N 0.691 T T T 0.308 . 0.804 0.101 T T T T T D 2.556 22.500 0.998 D D -0.034 2.393 0.186 3.114 0.114 0.487 0.574 0.574 0.564 . 5.700 5.700 5.299 1.176 0.618 1.000 0.996 0.978 944 Laminin_G_domain . . ID=COSV62182713;OCCURENCE=1(liver),1(ovary),1(prostate) CNTNAP2 285 1 179 19 0.095959595959596 TRUE TRUE +ENSG00000171044.11 . BCM GRCh38.p13 chr8 10898166 10898166 + G G C Missense_Mutation SNP ENST00000416569.3 exon3 c.C1712G p.P571R exonic ENSG00000171044.11 . nonsynonymous SNV ENSG00000171044.11:ENST00000416569.3:exon3:c.C1712G:p.P571R 8p23.1 C3L-00088 . . . . . . . . . 4.20 T T B B U N L D N 0.074 T T D 0.203 0.240 0.147 0.277 T T T T T T 2.426 22.200 0.903 D D -0.411 1.359 -0.317 1.529 0.402 0.554 0.547 0.602 0.568 . 4.670 2.780 5.498 1.164 0.662 0.955 0.996 0.997 958 . . . . XKR6 211 0 92 34 0.26984126984127 TRUE TRUE +ENSG00000164953.16 . BCM GRCh38.p13 chr8 93755096 93755096 + C C G Missense_Mutation SNP ENST00000453321.8 exon1 c.C182G p.S61W exonic ENSG00000164953.16 . nonsynonymous SNV ENSG00000164953.16:ENST00000453321.8:exon1:c.C182G:p.S61W 8q22.1 C3L-00088 8.237e-06 9.61e-05 0 0 0 0 0 0 rs746906232 13.20 D D D D D D M T D 0.628 T T D 0.291 . 0.901 0.445 T T T T D D 3.675 25.300 0.990 D D 0.608 6.005 0.539 5.536 1.000 0.442 0.522 0.522 0.373 . 5.350 5.350 4.144 1.022 0.545 0.987 0.965 0.192 0 . . . ID=COSV100019749;OCCURENCE=1(upper_aerodigestive_tract) TMEM67 326 0 203 44 0.178137651821862 TRUE NA +ENSG00000178685.14 . BCM GRCh38.p13 chr8 143977743 143977743 + T T G Missense_Mutation SNP ENST00000313028.12 exon11 c.A2819C p.H940P exonic ENSG00000178685.14 . nonsynonymous SNV ENSG00000178685.14:ENST00000313028.12:exon11:c.A2819C:p.H940P 8q24.3 C3L-00088 . . . . . . . . . 10.20 D D D D N D M T D 0.534 T T D 0.258 0.469 0.581 2.081 T T T T D T 4.108 27.800 0.987 D N 0.582 5.747 0.527 5.415 1.000 0.657 0.522 0.619 0.700 . 5.060 5.060 2.353 0.163 0.665 1.000 0.941 0.996 970 Poly(ADP-ribose)_polymerase,_catalytic_domain . . . PARP10 266 1 139 49 0.26063829787234 TRUE TRUE +ENSG00000107014.9 . BCM GRCh38.p13 chr9 5300355 5300359 + TTAAC TTAAC - Frame_Shift_Del DEL ENST00000381627.4 exon2 c.297_301del p.K99Nfs*4 exonic ENSG00000107014.9 . frameshift deletion ENSG00000107014.9:ENST00000381627.4:exon2:c.297_301del:p.K99Nfs*4 9p24.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RLN2 333 0 201 46 0.186234817813765 TRUE TRUE +ENSG00000165113.13 . BCM GRCh38.p13 chr9 83768942 83768942 + T T C Missense_Mutation SNP ENST00000376371.7 exon8 c.A614G p.H205R exonic ENSG00000165113.13 . nonsynonymous SNV ENSG00000165113.13:ENST00000376371.7:exon8:c.A614G:p.H205R 9q21.32 C3L-00088 . . . . . . . . . 3.19 T T B B D D N . N 0.226 T T T 0.048 0.183 0.163 0.114 T T T T T T 1.776 17.560 0.887 D N -0.394 1.396 -0.194 1.799 0.085 0.554 0.588 0.547 0.621 . 4.710 3.490 1.479 1.138 0.665 1.000 1.000 0.996 973 . . . . GKAP1 213 0 149 9 0.0569620253164557 TRUE TRUE +ENSG00000165124.18 . BCM GRCh38.p13 chr9 110579380 110579380 + T T C Missense_Mutation SNP ENST00000374469.6 exon1 c.A164G p.E55G exonic ENSG00000165124.18 . nonsynonymous SNV ENSG00000165124.18:ENST00000374469.6:exon1:c.A164G:p.E55G 9q31.3 C3L-00088 . . . . . . . . . 4.20 D D B B U N L T N 0.100 T T D 0.105 0.135 0.082 1.420 T T T T D T 2.722 22.900 0.994 N N -0.476 1.224 -0.395 1.380 1.000 0.598 0.596 0.607 0.555 . 3.320 3.320 0.545 1.041 0.593 0.731 0.264 0.202 965 . . . . SVEP1 457 0 211 64 0.232727272727273 TRUE TRUE +ENSG00000119321.9 . BCM GRCh38.p13 chr9 113171663 113171663 + T T C Missense_Mutation SNP ENST00000238256.8 exon24 c.A2576G p.N859S exonic ENSG00000119321.9 . nonsynonymous SNV ENSG00000119321.9:ENST00000238256.8:exon24:c.A2576G:p.N859S 9q32 C3L-00088 . . . . . . . . . 3.19 T T B B . N M T N 0.319 T T T 0.085 0.336 0.211 0.156 T T T T T D 2.104 20.100 0.992 D N 0.058 2.723 0.197 3.169 0.997 0.707 0.725 0.725 0.714 . 5.720 5.720 4.593 1.138 0.665 1.000 0.982 0.979 641 . . . . FKBP15 196 0 91 33 0.266129032258065 TRUE TRUE +ENSG00000196739.15 . BCM GRCh38.p13 chr9 114301315 114301315 + A A G Missense_Mutation SNP ENST00000356083.8 exon53 c.A4787G p.D1596G exonic ENSG00000196739.15 . nonsynonymous SNV ENSG00000196739.15:ENST00000356083.8:exon53:c.A4787G:p.D1596G 9q32 C3L-00088 . . . . . . . . . 13.19 T D P B . D L D D 0.304 D D D 0.580 0.350 0.371 0.313 T D D D D T 4.119 27.900 0.993 D D 0.343 4.010 0.431 4.584 1.000 0.706 0.563 0.710 0.714 . 5.380 5.380 6.576 1.312 0.756 1.000 1.000 0.999 544 . . . . COL27A1 206 0 94 32 0.253968253968254 TRUE TRUE +ENSG00000107890.16 . BCM GRCh38.p13 chr10 27053322 27053322 + G G C Missense_Mutation SNP ENST00000376087.4 exon16 c.C1633G p.Q545E exonic ENSG00000107890.16 . nonsynonymous SNV ENSG00000107890.16:ENST00000376087.4:exon16:c.C1633G:p.Q545E 10p12.1 C3L-00088 . . . . . . . . . 0.20 T T P B U N N T N 0.290 T T T 0.050 0.116 0.245 0.066 T T T T T T 0.621 7.717 0.676 N N -0.924 0.491 -1.056 0.422 0.000 0.651 0.634 0.653 0.684 . 3.330 -1.170 -0.028 0.029 0.614 0.054 0.492 0.366 679 . . . . ANKRD26 243 0 102 42 0.291666666666667 TRUE TRUE +ENSG00000035403.18 . BCM GRCh38.p13 chr10 74097204 74097204 + G G A Missense_Mutation SNP ENST00000211998.10 exon13 c.G1744A p.D582N exonic ENSG00000035403.18 . nonsynonymous SNV ENSG00000035403.18:ENST00000211998.10:exon13:c.G1744A:p.D582N 10q22.2 C3L-00088 . . . . . . . . . 12.20 D D D D D D M T N 0.843 T T D 0.173 0.641 0.309 1.109 T T T T D D 4.750 32 0.999 D D 0.460 4.737 0.571 5.877 1.000 0.742 0.775 0.702 0.714 . 5.500 5.500 9.246 1.172 0.672 1.000 1.000 0.883 285 . . . . VCL 463 0 224 73 0.245791245791246 TRUE TRUE +ENSG00000148737.17 . BCM GRCh38.p13 chr10 112950775 112950781 + GGTGGAG GGTGGAG - Frame_Shift_Del DEL ENST00000355995.8 exon1 c.19_25del p.G8Mfs*3 exonic ENSG00000148737.17 . frameshift deletion ENSG00000148737.17:ENST00000355995.8:exon1:c.19_25del:p.G8Mfs*3 10q25.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCF7L2 385 0 157 54 0.255924170616114 TRUE TRUE +ENSG00000170683.6 . BCM GRCh38.p13 chr11 7938685 7938696 + GTGTAAGCCAAT GTGTAAGCCAAT - In_Frame_Del DEL ENST00000642047.1 exon2 c.825_836del p.A277_L280del exonic ENSG00000170683.6 . nonframeshift deletion ENSG00000170683.6:ENST00000642047.1:exon2:c.825_836del:p.A277_L280del 11p15.4 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR10A3 364 0 186 18 0.0882352941176471 TRUE TRUE +ENSG00000151065.14 . BCM GRCh38.p13 chr12 1952668 1952668 + T T - Frame_Shift_Del DEL ENST00000280665.11 exon7 c.1272delA p.E425Nfs*22 exonic ENSG00000151065.14 . frameshift deletion ENSG00000151065.14:ENST00000280665.11:exon7:c.1272delA:p.E425Nfs*22 12p13.33 C3L-00088 . . . . . . . . rs987194464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCP1B 266 0 103 36 0.258992805755396 TRUE NA +ENSG00000173157.17 . BCM GRCh38.p13 chr12 43532145 43532145 + C C A Missense_Mutation SNP ENST00000389420.8 exon3 c.G504T p.M168I exonic ENSG00000173157.17 . nonsynonymous SNV ENSG00000173157.17:ENST00000389420.8:exon3:c.G504T:p.M168I 12q12 C3L-00088 . . . . . . . . . 2.17 T T . . N D L T N 0.360 T T T 0.046 0.436 0.655 0.039 T . T T T T 2.128 20.300 0.876 D N -0.377 1.433 -0.297 1.571 0.003 0.554 0.574 0.618 0.564 . 4.840 3.940 3.187 1.026 0.599 1.000 0.999 0.609 802 Peptidase_M12B,_propeptide . . . ADAMTS20 206 0 102 32 0.238805970149254 TRUE TRUE +ENSG00000161849.3 . BCM GRCh38.p13 chr12 52380422 52380422 + C C G Missense_Mutation SNP ENST00000257951.3 exon7 c.G1365C p.K455N exonic ENSG00000161849.3 . nonsynonymous SNV ENSG00000161849.3:ENST00000257951.3:exon7:c.G1365C:p.K455N 12q13.13 C3L-00088 . . . . . . . . . 18.20 D D D D D D H D D 0.868 D D D 0.793 0.765 0.958 0.230 T D D D D T 3.850 26.100 0.998 D D 0.547 5.424 0.426 4.548 0.998 0.520 0.616 0.441 0.636 . 5.030 3.070 1.665 0.130 -0.176 1.000 0.993 0.953 629 Intermediate_filament,_rod_domain . . . KRT84 268 0 120 52 0.302325581395349 TRUE TRUE +ENSG00000205420.11 . BCM GRCh38.p13 chr12 52493176 52493176 + A A C Missense_Mutation SNP ENST00000330722.7 exon1 c.T13G p.S5A exonic ENSG00000205420.11 . nonsynonymous SNV ENSG00000205420.11:ENST00000330722.7:exon1:c.T13G:p.S5A 12q13.13 C3L-00088 . . . . . . . . . 1.20 D T B B N N L T N 0.319 T T T 0.033 0.334 0.554 1.414 T T T T T T 2.476 22.400 0.979 N N -0.490 1.196 -0.406 1.361 1.000 0.497 0.590 0.547 0.542 . 5.240 2.170 3.688 0.229 0.756 0.992 0.998 0.982 769 . . . . KRT6A 684 0 368 123 0.25050916496945 NA TRUE +ENSG00000139572.4 . BCM GRCh38.p13 chr12 54362740 54362740 + G G C Missense_Mutation SNP ENST00000267015.4 exon2 c.C1112G p.A371G exonic ENSG00000139572.4 . nonsynonymous SNV ENSG00000139572.4:ENST00000267015.4:exon2:c.C1112G:p.A371G 12q13.13 C3L-00088 . . . . . . . . . 12.20 D D D D D D L T D 0.589 T T D 0.348 0.697 0.745 0.333 T T T T D D 3.956 26.700 0.998 D D 0.809 8.958 0.809 10.393 1.000 0.554 0.588 0.590 0.542 . 5.430 5.430 8.980 1.176 0.676 1.000 0.984 0.958 680 . . . . GPR84 165 0 89 18 0.168224299065421 TRUE TRUE +ENSG00000135677.11 . BCM GRCh38.p13 chr12 64721646 64721646 + C C A Missense_Mutation SNP ENST00000258145.8 exon12 c.G1368T p.R456S exonic ENSG00000135677.11 . nonsynonymous SNV ENSG00000135677.11:ENST00000258145.8:exon12:c.G1368T:p.R456S 12q14.3 C3L-00088 . . . . . . . . . 18.20 D D D D D D H T D 0.935 D D D 0.538 0.707 0.809 1.319 T D D D D D 3.847 26.100 0.998 D D 0.600 5.923 0.478 4.960 1.000 0.707 0.725 0.725 0.714 . 5.710 3.530 0.957 1.026 0.599 1.000 0.697 0.363 701 . . . . GNS 315 0 176 53 0.231441048034935 TRUE TRUE +ENSG00000127311.10 . BCM GRCh38.p13 chr12 66310324 66310324 + T T C Missense_Mutation SNP ENST00000247815.9 exon4 c.T1396C p.C466R exonic ENSG00000127311.10 . nonsynonymous SNV ENSG00000127311.10:ENST00000247815.9:exon4:c.T1396C:p.C466R 12q14.3 C3L-00088 . . . . . . . . . 14.19 D D D D D D M T D 0.905 T T D 0.536 0.763 0.606 0.916 T T D D D . 4.199 28.600 0.998 D D 0.670 6.713 0.687 7.513 1.000 0.563 0.654 0.670 0.492 . 6.040 6.040 6.389 1.138 0.665 1.000 0.427 0.942 818 . . . . HELB 267 0 132 63 0.323076923076923 TRUE TRUE +ENSG00000130787.14 . BCM GRCh38.p13 chr12 122861491 122861491 + G G T Missense_Mutation SNP ENST00000253083.9 exon31 c.G3136T p.V1046L exonic ENSG00000130787.14 . nonsynonymous SNV ENSG00000130787.14:ENST00000253083.9:exon31:c.G3136T:p.V1046L 12q24.31 C3L-00088 . . . . . . . . . 0.20 T T B B N N L T N 0.111 T T T 0.053 0.052 0.067 0.088 T T T T T T 0.388 5.295 0.766 N N -1.472 0.090 -1.501 0.107 1.000 0.672 0.702 0.571 0.711 . 5.060 -2.780 0.029 -1.024 -0.716 0.000 0.078 0.239 313 . . . . HIP1R 150 0 80 33 0.292035398230089 TRUE TRUE +ENSG00000181234.9 . BCM GRCh38.p13 chr12 128616301 128616301 + A A T Missense_Mutation SNP ENST00000435159.2 exon4 c.A1271T p.Q424L exonic ENSG00000181234.9 . nonsynonymous SNV ENSG00000181234.9:ENST00000435159.2:exon4:c.A1271T:p.Q424L 12q24.32 C3L-00088 . . . . . . . . . 8.20 D T B B N D M T D 0.669 T T T 0.233 0.562 0.464 0.121 T T D T D T 2.937 23.300 0.996 D D 0.169 3.168 0.280 3.604 0.726 0.554 0.574 0.602 0.564 . 5.000 5.000 5.013 1.312 0.756 1.000 1.000 0.904 993 . . . . TMEM132C 122 0 62 20 0.24390243902439 TRUE TRUE +ENSG00000075673.11 . BCM GRCh38.p13 chr13 24700853 24700853 + G G T Missense_Mutation SNP ENST00000381946.4 exon13 c.G1812T p.L604F exonic ENSG00000075673.11 . nonsynonymous SNV ENSG00000075673.11:ENST00000381946.4:exon13:c.G1812T:p.L604F 13q12.12 C3L-00088 . . . . . . . . . 8.20 D T D P D D L T N 0.636 T T D 0.459 0.461 0.794 0.698 T T T T D D 2.552 22.500 0.998 D N -0.150 2.020 -0.213 1.754 0.262 0.638 0.590 0.653 0.613 . 6.170 -0.631 0.499 0.220 0.676 0.999 0.949 0.825 976 . . . . ATP12A 224 2 146 26 0.151162790697674 TRUE TRUE +ENSG00000172915.18 . BCM GRCh38.p13 chr13 35109399 35109399 + A A - Frame_Shift_Del DEL ENST00000400445.7 exon12 c.1790delA p.H597Pfs*41 exonic ENSG00000172915.18 . frameshift deletion ENSG00000172915.18:ENST00000400445.7:exon12:c.1790delA:p.H597Pfs*41 13q13.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NBEA 192 0 78 35 0.309734513274336 NA TRUE +ENSG00000134874.17 . BCM GRCh38.p13 chr13 95641484 95641484 + C C A Missense_Mutation SNP ENST00000347108.7 exon3 c.G408T p.E136D exonic ENSG00000134874.17 . nonsynonymous SNV ENSG00000134874.17:ENST00000347108.7:exon3:c.G408T:p.E136D 13q32.1 C3L-00088 . . . . . . . . . 1.20 T T P P D N L T N 0.156 T T T 0.131 0.560 0.516 0.997 T T T T T T 2.101 20.100 0.995 N N -0.541 1.096 -0.585 1.069 1.000 0.789 0.383 0.768 0.651 . 4.820 3.050 -0.791 1.026 0.599 0.047 1.000 0.998 879 Zinc_finger_protein_DZIP1,_N-terminal . . . DZIP1 244 1 98 39 0.284671532846715 TRUE TRUE +ENSG00000197616.12 . BCM GRCh38.p13 chr14 23396777 23396777 + A A G Missense_Mutation SNP ENST00000405093.8 exon19 c.T2209C p.F737L exonic ENSG00000197616.12 . nonsynonymous SNV ENSG00000197616.12:ENST00000405093.8:exon19:c.T2209C:p.F737L 14q11.2 C3L-00088 . . . . . . . . . 18.19 D D D D . D M D D 0.771 D D D 0.863 0.525 0.964 1.048 T D D D D D 3.902 26.400 0.999 D D 0.755 7.956 0.691 7.596 1.000 0.497 0.563 0.547 0.542 . 4.460 4.460 8.925 1.233 0.665 1.000 0.988 0.859 367 Myosin_head,_motor_domain . . . MYH6 586 0 345 108 0.23841059602649 NA TRUE +ENSG00000165379.13 . BCM GRCh38.p13 chr14 41891506 41891506 + C C A Missense_Mutation SNP ENST00000298119.8 exon4 c.C1642A p.L548M exonic ENSG00000165379.13 . nonsynonymous SNV ENSG00000165379.13:ENST00000298119.8:exon4:c.C1642A:p.L548M 14q21.1 C3L-00088 . . . . . . . . . 14.20 D T D D D D M T N 0.656 T T D 0.160 0.309 0.737 1.264 D T D D D D 2.896 23.200 0.996 D D 0.586 5.789 0.556 5.708 0.001 0.554 0.574 0.618 0.564 . 5.750 3.610 5.029 1.026 0.599 1.000 0.998 0.984 928 . . . ID=COSV53255336;OCCURENCE=1(upper_aerodigestive_tract) LRFN5 472 1 340 22 0.0607734806629834 TRUE TRUE +ENSG00000100485.12 . BCM GRCh38.p13 chr14 50145589 50145589 + G G C Missense_Mutation SNP ENST00000216373.10 exon15 c.C2392G p.Q798E exonic ENSG00000100485.12 . nonsynonymous SNV ENSG00000100485.12:ENST00000216373.10:exon15:c.C2392G:p.Q798E 14q21.3 C3L-00088 . . . . . . . . . 8.20 D D B B D D N T N 0.418 T T T 0.129 0.386 0.443 0.350 T T T T D D 3.140 23.700 0.990 D D 0.135 3.028 0.337 3.940 1.000 0.732 0.744 0.659 0.684 . 5.730 5.730 9.779 1.176 0.676 1.000 0.998 0.997 467 Ras_guanine-nucleotide_exchange_factors_catalytic_domain . . . SOS2 121 0 53 21 0.283783783783784 TRUE TRUE +ENSG00000119681.12 . BCM GRCh38.p13 chr14 74510102 74510102 + T T C Missense_Mutation SNP ENST00000261978.9 exon20 c.A3140G p.K1047R exonic ENSG00000119681.12 . nonsynonymous SNV ENSG00000119681.12:ENST00000261978.9:exon20:c.A3140G:p.K1047R 14q24.3 C3L-00088 . . . . . . . . . 6.20 T T P P D N L D N 0.452 T D D 0.356 0.503 0.812 0.559 T T T T D T 3.631 25.200 0.998 D N -0.130 2.081 -0.056 2.178 1.000 0.672 0.590 0.527 0.711 . 4.790 3.650 2.285 0.202 -0.120 0.989 0.998 0.968 259 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . LTBP2 518 0 253 82 0.244776119402985 TRUE TRUE +ENSG00000119718.11 . BCM GRCh38.p13 chr14 75004892 75004892 + T T G Missense_Mutation SNP ENST00000266126.10 exon4 c.T589G p.F197V exonic ENSG00000119718.11 . nonsynonymous SNV ENSG00000119718.11:ENST00000266126.10:exon4:c.T589G:p.F197V 14q24.3 C3L-00088 . . . . . . . . . 13.20 T T B B D D L D N 0.838 D D D 0.660 0.462 0.994 0.616 T D D D D D 2.810 23.000 0.987 D D 0.101 2.892 0.287 3.644 1.000 0.706 0.663 0.710 0.639 . 5.520 5.520 7.773 1.045 0.661 1.000 1.000 0.998 582 . . . . EIF2B2 451 0 255 72 0.220183486238532 TRUE TRUE +ENSG00000100811.14 . BCM GRCh38.p13 chr14 100239828 100239828 + G G A Missense_Mutation SNP ENST00000262238.10 exon1 c.G584A p.G195D exonic ENSG00000100811.14 . nonsynonymous SNV ENSG00000100811.14:ENST00000262238.10:exon1:c.G584A:p.G195D 14q32.2 C3L-00088 . . . . . . . . . 2.19 T T P B . N N T N 0.345 T T D 0.138 0.364 0.387 1.484 D T T T T T 2.589 22.600 0.968 N N -0.674 0.858 -0.682 0.926 1.000 0.733 0.522 0.601 0.581 . 2.150 1.190 6.092 0.722 0.295 1.000 1.000 0.951 976 . . . . YY1 86 0 48 3 0.0588235294117647 TRUE NA +ENSG00000211893.4 . BCM GRCh38.p13 chr14 105643914 105643914 + G G T Missense_Mutation SNP ENST00000641095.1 exon3 c.C367A p.P123T exonic ENSG00000211893.4 . nonsynonymous SNV ENSG00000211893.4:ENST00000641095.1:exon3:c.C367A:p.P123T 14q32.33 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHG2 317 1 165 57 0.256756756756757 NA TRUE +ENSG00000103932.12 . BCM GRCh38.p13 chr15 41520972 41520972 + C C T Missense_Mutation SNP ENST00000304330.9 exon22 c.G3214A p.A1072T exonic ENSG00000103932.12 . nonsynonymous SNV ENSG00000103932.12:ENST00000304330.9:exon22:c.G3214A:p.A1072T 15q15.1 C3L-00088 . . . . . . . . . 2.20 T T B B N D L T N 0.022 T T D 0.118 0.350 0.734 0.196 T T T T T T 1.835 17.990 0.828 N N -0.668 0.867 -0.565 1.100 0.085 0.732 0.644 0.744 0.714 . 4.950 1.810 2.125 -0.250 -0.233 0.822 0.664 0.491 197 . . . . RPAP1 92 0 39 17 0.303571428571429 TRUE NA +ENSG00000103978.16 . BCM GRCh38.p13 chr15 42273274 42273274 + C C T Nonsense_Mutation SNP ENST00000389834.9 exon1 c.G125A p.W42X exonic ENSG00000103978.16 . stopgain ENSG00000103978.16:ENST00000389834.9:exon1:c.G125A:p.W42X 15q15.1 C3L-00088 . . . . . . . . . 6.13 D . B B . D . . N 0.432 T T . 0.197 0.846 0.367 . . . D D D D 7.883 40 0.991 N N 0.842 9.652 0.722 8.188 1.000 0.442 0.522 0.522 0.562 . 5.550 5.550 3.670 1.026 0.549 1.000 0.995 0.817 492 . . . . TMEM87A 186 0 73 27 0.27 TRUE TRUE +ENSG00000166947.14 . BCM GRCh38.p13 chr15 43216327 43216327 + C C T Missense_Mutation SNP ENST00000441366.6 exon2 c.G137A p.R46H exonic ENSG00000166947.14 . nonsynonymous SNV ENSG00000166947.14:ENST00000441366.6:exon2:c.G137A:p.R46H 15q15.2 C3L-00088 4.119e-05 0 0 0 0 7.494e-05 0 0 rs202154600 2.20 T T P B N N N D N 0.148 T T D 0.170 . 0.586 . T T T T T T -0.509 0.114 0.883 N N -1.284 0.174 -1.369 0.167 0.999 0.447 0.547 0.547 0.530 . 5.020 -5.000 -1.073 -0.448 -0.182 0.000 0.058 0.053 16 Transglutaminase,_N-terminal . . ID=COSV55750577;OCCURENCE=1(large_intestine),1(kidney) EPB42 361 0 181 45 0.199115044247788 TRUE TRUE +ENSG00000104133.15 . BCM GRCh38.p13 chr15 44596834 44596834 + A A T Missense_Mutation SNP ENST00000261866.12 exon24 c.T4111A p.W1371R exonic ENSG00000104133.15 . nonsynonymous SNV ENSG00000104133.15:ENST00000261866.12:exon24:c.T4111A:p.W1371R 15q21.1 C3L-00088 . . . . . . . . . 18.20 D D D D D D M D D 0.924 D D D 0.911 0.785 0.911 0.332 T D D D D T 4.364 31 0.996 D D 0.813 9.034 0.787 9.761 1.000 0.742 0.778 0.744 0.636 . 5.540 5.540 7.432 0.325 0.756 1.000 0.998 1.000 141 . . . . SPG11 352 0 190 52 0.214876033057851 TRUE TRUE +ENSG00000140280.14 . BCM GRCh38.p13 chr15 51724836 51724836 + T T G Missense_Mutation SNP ENST00000267838.7 exon2 c.A559C p.I187L exonic ENSG00000140280.14 . nonsynonymous SNV ENSG00000140280.14:ENST00000267838.7:exon2:c.A559C:p.I187L 15q21.2 C3L-00088 . . . . . . . . . 13.20 D D D D D D M T N 0.811 T T D 0.277 0.480 0.716 0.572 T T D T D D 4.044 27.300 0.994 D D 0.804 8.869 0.774 9.403 1.000 0.646 0.696 0.609 0.696 . 5.540 5.540 7.479 1.138 0.665 1.000 1.000 0.998 283 . . . . LYSMD2 209 0 108 40 0.27027027027027 TRUE TRUE +ENSG00000168904.15 . BCM GRCh38.p13 chr15 99287285 99287285 + G G T Missense_Mutation SNP ENST00000301981.8 exon4 c.G238T p.V80F exonic ENSG00000168904.15 . nonsynonymous SNV ENSG00000168904.15:ENST00000301981.8:exon4:c.G238T:p.V80F 15q26.3 C3L-00088 . . . . . . . . . 6.20 D D P B N D L T N 0.783 T T T 0.198 0.566 0.713 0.191 T T T T D D 2.247 21.200 0.989 D N -0.154 2.009 -0.144 1.927 0.992 0.706 0.710 0.710 0.613 . 4.900 2.000 1.429 1.106 0.509 1.000 0.979 0.715 949 . . . ID=COSV57337232;OCCURENCE=1(skin) LRRC28 205 1 92 29 0.239669421487603 TRUE TRUE +ENSG00000080603.17 . BCM GRCh38.p13 chr16 30729024 30729024 + A A T Missense_Mutation SNP ENST00000380361.7 exon21 c.A5186T p.Q1729L exonic ENSG00000080603.17;ENSG00000282034.1 . nonsynonymous SNV ENSG00000282034.1:ENST00000380361.7:exon21:c.A5186T:p.Q1729L,ENSG00000080603.17:ENST00000262518.9:exon26:c.A5717T:p.Q1906L 16p11.2 C3L-00088 . . . . . . . . . 6.20 T T B B D N N D D 0.526 T T D 0.321 0.444 0.391 0.557 T T T T D T 1.990 19.180 0.949 D N -0.448 1.282 -0.238 1.697 1.000 0.713 0.702 0.636 0.714 . 5.930 3.580 1.689 0.326 -0.093 0.930 0.998 0.997 10 . . . . SRCAP 233 0 124 52 0.295454545454545 TRUE TRUE +ENSG00000188038.8 . BCM GRCh38.p13 chr16 67884965 67884965 + T T C Missense_Mutation SNP ENST00000339176.8 exon1 c.T62C p.L21S exonic ENSG00000188038.8 . nonsynonymous SNV ENSG00000188038.8:ENST00000339176.8:exon1:c.T62C:p.L21S 16q22.1 C3L-00088 . . . . . . . . . 8.19 D D D D N N M . N 0.680 T T T 0.152 0.239 0.227 0.093 T T D D T T 2.812 23.000 0.988 D N 0.287 3.712 0.197 3.166 1.000 0.461 0.577 0.520 0.714 . 3.830 3.830 1.320 1.108 0.665 0.998 0.876 0.413 8 . . . . NRN1L 366 0 198 60 0.232558139534884 TRUE NA +ENSG00000257017.9 . BCM GRCh38.p13 chr16 72060536 72060536 + T T A Missense_Mutation SNP ENST00000355906.10 exon7 c.T867A p.N289K exonic ENSG00000257017.9 . nonsynonymous SNV ENSG00000257017.9:ENST00000355906.10:exon7:c.T867A:p.N289K 16q22.2 C3L-00088 . . . . . . . . . 7.20 D T P B N D N D N 0.364 T T D 0.260 0.515 0.833 0.594 T D T T T D 1.696 17.000 0.762 N D -0.549 1.082 -0.572 1.088 0.317 0.487 0.574 0.547 0.542 . 5.120 3.020 -0.026 0.113 -0.218 0.000 0.507 0.703 173 Serine_proteases,_trypsin_domain . . . HP 298 0 133 57 0.3 TRUE TRUE +ENSG00000108255.7 . BCM GRCh38.p13 chr17 29253740 29253740 + G G A Nonsense_Mutation SNP ENST00000225387.7 exon5 c.G458A p.W153X exonic ENSG00000108255.7 . stopgain ENSG00000108255.7:ENST00000225387.7:exon5:c.G458A:p.W153X 17q11.2 C3L-00088 . . . . . . . . . 5.6 . . . . D D . . . 0.959 . . . . . . . . . D D . . 8.148 41 0.987 D N 0.725 7.488 0.548 5.627 1.000 0.476 0.602 0.537 0.646 . 5.430 4.460 9.540 1.176 0.618 1.000 0.849 0.395 323 Beta/gamma_crystallin . . . CRYBA1 293 0 177 47 0.209821428571429 TRUE TRUE +ENSG00000213416.4 . BCM GRCh38.p13 chr17 41123582 41123582 + A A T Missense_Mutation SNP ENST00000394014.2 exon1 c.T541A p.Y181N exonic ENSG00000213416.4 . nonsynonymous SNV ENSG00000213416.4:ENST00000394014.2:exon1:c.T541A:p.Y181N 17q21.2 C3L-00088 . . . . . . . . . 8.19 T D D D U D M T D 0.777 T T T 0.183 0.324 0.440 0.046 T T T T D . 3.304 24.100 0.973 D N 0.572 5.646 0.477 4.960 1.000 0.447 0.563 0.547 0.613 . 4.670 4.670 2.495 1.212 0.556 0.728 0.994 0.989 259 . . . . KRTAP4-12 296 0 153 43 0.219387755102041 NA TRUE +ENSG00000005882.12 . BCM GRCh38.p13 chr17 50095507 50095509 + CAA CAA - In_Frame_Del DEL ENST00000503176.6 exon1 c.72_74del p.S24_K25delinsR exonic ENSG00000005882.12 . nonframeshift deletion ENSG00000005882.12:ENST00000503176.6:exon1:c.72_74del:p.S24_K25delinsR 17q21.33 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDK2 240 0 113 33 0.226027397260274 TRUE TRUE +ENSG00000141668.10 . BCM GRCh38.p13 chr18 72542088 72542088 + G G C Missense_Mutation SNP ENST00000269503.9 exon3 c.C73G p.P25A exonic ENSG00000141668.10 . nonsynonymous SNV ENSG00000141668.10:ENST00000269503.9:exon3:c.C73G:p.P25A 18q22.3 C3L-00088 . . . . . . . . . 3.20 T T B B N D N T N 0.125 T T D 0.243 0.293 0.764 1.047 D T T T T T 1.417 15.190 0.868 N N -0.690 0.830 -0.532 1.151 0.997 0.526 0.616 0.596 0.555 . 3.650 2.740 0.607 0.944 0.554 0.011 0.963 0.968 878 . . . . CBLN2 74 0 27 7 0.205882352941176 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8965801 8965801 + T T C Missense_Mutation SNP ENST00000397910.8 exon3 c.A10969G p.S3657G exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.A10969G:p.S3657G 19p13.2 C3L-00088 . . . . . . . . . 1.15 D T . . . N . T N 0.036 T T T 0.039 0.144 0.030 . T . T T T T 0.681 8.276 0.317 N N -1.201 0.226 -1.276 0.225 0.000 0.554 0.574 0.618 0.564 . 2.030 -0.865 0.948 0.782 0.504 0.002 0.002 0.002 900 . . . . MUC16 62 0 21 5 0.192307692307692 TRUE TRUE +ENSG00000095066.11 . BCM GRCh38.p13 chr19 12766003 12766003 + T T A Missense_Mutation SNP ENST00000397668.7 exon16 c.A1523T p.Q508L exonic ENSG00000095066.11 . nonsynonymous SNV ENSG00000095066.11:ENST00000397668.7:exon16:c.A1523T:p.Q508L 19p13.13 C3L-00088 . . . . . . . . . 12.20 D D D D D D M T D 0.517 T T D 0.305 0.469 0.361 0.429 T T T T D T 4.276 29.400 0.995 D D 0.641 6.371 0.564 5.798 1.000 0.632 0.613 0.780 0.600 . 5.040 5.040 7.168 1.138 0.609 1.000 1.000 0.877 624 . . . . HOOK2 121 0 73 17 0.188888888888889 TRUE TRUE +ENSG00000105655.19 . BCM GRCh38.p13 chr19 18436166 18436166 + G G C Missense_Mutation SNP ENST00000338128.13 exon7 c.C841G p.Q281E exonic ENSG00000105655.19 . nonsynonymous SNV ENSG00000105655.19:ENST00000338128.13:exon7:c.C841G:p.Q281E 19p13.11 C3L-00088 . . . . . . . . . 18.19 D D D D D D H . D 0.793 D D D 0.446 0.768 0.882 2.247 T D D D D D 3.433 24.500 0.950 D D 0.862 10.115 0.725 8.240 1.000 0.672 0.702 0.702 0.711 . 4.260 4.260 6.738 1.007 0.590 1.000 0.927 0.659 952 . . . . ISYNA1 273 0 149 54 0.266009852216749 TRUE TRUE +ENSG00000196350.9 . BCM GRCh38.p13 chr19 22313700 22313700 + T T C Missense_Mutation SNP ENST00000601693.2 exon4 c.T283C p.W95R exonic ENSG00000196350.9 . nonsynonymous SNV ENSG00000196350.9:ENST00000601693.2:exon4:c.T283C:p.W95R 19p12 C3L-00088 3.294e-05 0.0002 0 0 0 0 0 0 rs756153219 1.14 . T . . . . M T . 0.202 T T T 0.037 - 0.175 0.011 T T T T T T 0.992 11.520 0.708 N N -0.739 0.749 -0.986 0.507 0.000 0.487 0.574 0.574 0.564 . 1.550 -0.757 0.134 -0.392 -0.581 0.000 0.001 0.001 988 . . . . ZNF729 64 0 31 13 0.295454545454545 TRUE NA +ENSG00000105227.15 . BCM GRCh38.p13 chr19 40397159 40397159 + A A T Missense_Mutation SNP ENST00000324001.8 exon7 c.T1193A p.L398H exonic ENSG00000105227.15 . nonsynonymous SNV ENSG00000105227.15:ENST00000324001.8:exon7:c.T1193A:p.L398H 19q13.2 C3L-00088 . . . . . . . . . 11.20 D D D D N D M T D 0.595 T T D 0.161 0.207 0.566 0.908 T D T T D T 3.806 25.900 0.985 D N 0.461 4.748 0.369 4.147 0.445 0.696 0.634 0.723 0.655 . 4.540 4.540 2.645 1.297 0.740 0.998 1.000 0.995 754 . . . . PRX 429 0 190 63 0.24901185770751 TRUE TRUE +ENSG00000130202.10 . BCM GRCh38.p13 chr19 44871972 44871972 + C C G Missense_Mutation SNP ENST00000252483.10 exon3 c.C598G p.L200V exonic ENSG00000130202.10 . nonsynonymous SNV ENSG00000130202.10:ENST00000252483.10:exon3:c.C598G:p.L200V 19q13.32 C3L-00088 . . . . . . . . . 5.19 T D P P D N . T N 0.191 T D D 0.131 0.537 0.602 0.605 T T T T D T 1.465 15.510 0.980 N N -0.226 1.805 -0.353 1.458 0.010 0.672 0.588 0.698 0.711 . 4.420 2.260 0.658 1.022 0.596 0.055 0.030 0.011 835 CD80-like,_immunoglobulin_C2-set;Immunoglobulin-like_domain . . . NECTIN2 546 0 251 66 0.20820189274448 TRUE TRUE +ENSG00000117877.10 . BCM GRCh38.p13 chr19 45408493 45408493 + G G - Frame_Shift_Del DEL ENST00000309424.7 exon3 c.525delG p.K177Rfs*5 exonic ENSG00000117877.10 . frameshift deletion ENSG00000117877.10:ENST00000309424.7:exon3:c.525delG:p.K177Rfs*5 19q13.32 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD3EAP 136 0 70 4 0.0540540540540541 NA TRUE +ENSG00000204514.10 . BCM GRCh38.p13 chr19 57873280 57873280 + G G T Missense_Mutation SNP ENST00000435989.7 exon3 c.C2110A p.L704I exonic ENSG00000204514.10 . nonsynonymous SNV ENSG00000204514.10:ENST00000435989.7:exon3:c.C2110A:p.L704I 19q13.43 C3L-00088 . . . . . . . . . 0.19 T T B B . N L T N 0.136 T T T 0.007 0.325 0.030 0.042 T T T T T T -1.133 0.003 0.883 N N -1.564 0.063 -1.670 0.058 0.079 0.672 0.577 0.702 0.592 . 1.810 -3.630 -6.328 -1.270 -0.529 0.000 0.000 0.406 982 Zinc_finger_C2H2-type . . . ZNF814 203 3 95 22 0.188034188034188 NA TRUE +ENSG00000149639.15 . BCM GRCh38.p13 chr20 36815762 36815780 + GTCCTCCGACAGCGCCACG GTCCTCCGACAGCGCCACG - Frame_Shift_Del DEL ENST00000237536.9 exon5 c.1662_1680del p.D554Efs*97 exonic ENSG00000149639.15 . frameshift deletion ENSG00000149639.15:ENST00000237536.9:exon5:c.1662_1680del:p.D554Efs*97 20q11.23 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOGA1 326 0 109 48 0.305732484076433 TRUE TRUE +ENSG00000087460.25 . BCM GRCh38.p13 chr20 58853470 58853470 + G G T Nonsense_Mutation SNP ENST00000371100.8 exon1 c.G205T p.G69X exonic ENSG00000087460.25 . stopgain ENSG00000087460.25:ENST00000371100.8:exon1:c.G205T:p.G69X 20q13.32 C3L-00088 . . . . . . . . . 3.5 . . . . . D . . . 0.756 . . . . . . . . . D D . . 5.448 34 0.985 N N 0.472 4.823 0.153 2.964 1.000 0.765 0.627 0.732 0.639 . 4.550 4.550 1.038 1.176 0.676 0.025 0.158 0.091 954 . . . . GNAS 471 1 227 61 0.211805555555556 TRUE TRUE +ENSG00000125363.14 . BCM GRCh38.p13 chrX 11298695 11298695 + - NA AACA Frame_Shift_Ins INS ENST00000380714.7 exon5 c.292_293insAACA p.P99Qfs*76 exonic ENSG00000125363.14 . frameshift insertion ENSG00000125363.14:ENST00000380714.7:exon5:c.292_293insAACA:p.P99Qfs*76 Xp22.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMELX NA NA NA NA NA NA NA +ENSG00000196335.13 . BCM GRCh38.p13 chr7 23762924 23762924 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000196335.13 ENST00000355870.8:exon11:c.1416+1G>T . . 7p15.3 C3L-00088 8.619e-06 0 0 0 0 0 0 6.277e-05 rs774724027 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.002 35 0.995 D . 1.077 16.565 0.912 14.272 0.998 0.061 0.063 0.063 0.059 0.958 5.240 5.240 6.061 1.176 0.618 1.000 0.990 0.991 615 . . . . STK31 169 1 129 7 0.0514705882352941 TRUE NA +ENSG00000089597.18 . BCM GRCh38.p13 chr11 62625926 62625926 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000089597.18 ENST00000356638.8:exon24:c.2726-2A>T . . 11q12.3 C3L-00088 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.563 34 0.992 D . 0.985 13.453 0.801 10.162 1.000 0.257 0.272 0.320 0.221 0.845 5.120 5.120 5.990 1.049 0.665 1.000 0.596 0.805 244 . . . . GANAB 224 0 134 38 0.22093023255814 TRUE TRUE +ENSG00000171502.15 . BCM GRCh38.p13 chr1 86125757 86125757 + T T C Silent SNP ENST00000370571.7 exon3 c.A579G p.E193E exonic ENSG00000171502.15 . synonymous SNV ENSG00000171502.15:ENST00000370571.7:exon3:c.A579G:p.E193E 1p22.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL24A1 56 0 26 13 0.333333333333333 TRUE TRUE +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32513119 32513119 + T T C Silent SNP ENST00000421745.6 exon54 c.T10533C p.Y3511Y exonic ENSG00000115760.14 . synonymous SNV ENSG00000115760.14:ENST00000421745.6:exon54:c.T10533C:p.Y3511Y 2p22.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BIRC6 287 0 152 57 0.272727272727273 TRUE NA +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47101541 47101541 + T T A Silent SNP ENST00000409792.3 exon8 c.A4932T p.G1644G exonic ENSG00000181555.20 . synonymous SNV ENSG00000181555.20:ENST00000409792.3:exon8:c.A4932T:p.G1644G 3p21.31 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETD2 231 0 57 31 0.352272727272727 TRUE TRUE +ENSG00000144749.13 . BCM GRCh38.p13 chr3 66383103 66383103 + C C T Silent SNP ENST00000273261.7 exon15 c.G2370A p.G790G exonic ENSG00000144749.13 . synonymous SNV ENSG00000144749.13:ENST00000273261.7:exon15:c.G2370A:p.G790G 3p14.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRIG1 215 0 60 29 0.325842696629214 TRUE TRUE +ENSG00000169989.3 . BCM GRCh38.p13 chr4 152769634 152769634 + C C T Silent SNP ENST00000304337.3 exon2 c.G1371A p.E457E exonic ENSG00000169989.3 . synonymous SNV ENSG00000169989.3:ENST00000304337.3:exon2:c.G1371A:p.E457E 4q31.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TIGD4 102 0 59 13 0.180555555555556 TRUE TRUE +ENSG00000109572.14 . BCM GRCh38.p13 chr4 169697248 169697248 + T T G Silent SNP ENST00000513761.6 exon9 c.T1077G p.A359A exonic ENSG00000109572.14 . synonymous SNV ENSG00000109572.14:ENST00000513761.6:exon9:c.T1077G:p.A359A 4q33 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLCN3 147 0 78 30 0.277777777777778 TRUE TRUE +ENSG00000145700.10 . BCM GRCh38.p13 chr5 75068522 75068522 + G G T Silent SNP ENST00000274361.3 exon25 c.C5619A p.P1873P exonic ENSG00000145700.10 . synonymous SNV ENSG00000145700.10:ENST00000274361.3:exon25:c.C5619A:p.P1873P 5q13.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD31 93 0 45 23 0.338235294117647 TRUE TRUE +ENSG00000153162.9 . BCM GRCh38.p13 chr6 7861586 7861586 + G G C Silent SNP ENST00000283147.7 exon3 c.G993C p.V331V exonic ENSG00000153162.9 . synonymous SNV ENSG00000153162.9:ENST00000283147.7:exon3:c.G993C:p.V331V 6p24.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BMP6 155 0 75 25 0.25 TRUE TRUE +ENSG00000164484.11 . BCM GRCh38.p13 chr6 130441217 130441217 + T T C Silent SNP ENST00000392429.1 exon2 c.T795C p.T265T exonic ENSG00000164484.11 . synonymous SNV ENSG00000164484.11:ENST00000392429.1:exon2:c.T795C:p.T265T 6q23.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM200A 208 0 88 25 0.221238938053097 TRUE TRUE +ENSG00000136295.15 . BCM GRCh38.p13 chr7 2647528 2647528 + G G A Silent SNP ENST00000258796.12 exon4 c.G516A p.Q172Q exonic ENSG00000136295.15 . synonymous SNV ENSG00000136295.15:ENST00000258796.12:exon4:c.G516A:p.Q172Q 7p22.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTYH3 180 0 111 27 0.195652173913043 TRUE TRUE +ENSG00000136280.17 . BCM GRCh38.p13 chr7 45075889 45075889 + G G A Silent SNP ENST00000258781.11 exon10 c.G1167A p.R389R exonic ENSG00000136280.17 . synonymous SNV ENSG00000136280.17:ENST00000258781.11:exon10:c.G1167A:p.R389R 7p13 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCM2 687 0 327 112 0.255125284738041 TRUE TRUE +ENSG00000154997.9 . BCM GRCh38.p13 chr7 55834503 55834503 + T T C Silent SNP ENST00000388975.4 exon6 c.A642G p.E214E exonic ENSG00000154997.9 . synonymous SNV ENSG00000154997.9:ENST00000388975.4:exon6:c.A642G:p.E214E 7p11.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEPTIN14 210 0 118 33 0.218543046357616 TRUE NA +ENSG00000158560.14 . BCM GRCh38.p13 chr7 95984819 95984819 + T T A Silent SNP ENST00000324972.10 exon8 c.T636A p.P212P exonic ENSG00000158560.14 . synonymous SNV ENSG00000158560.14:ENST00000324972.10:exon8:c.T636A:p.P212P 7q21.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNC1I1 209 0 93 34 0.267716535433071 TRUE TRUE +ENSG00000146918.20 . BCM GRCh38.p13 chr7 158655354 158655354 + G G T Silent SNP ENST00000356309.8 exon20 c.C2490A p.I830I exonic ENSG00000146918.20 . synonymous SNV ENSG00000146918.20:ENST00000356309.8:exon20:c.C2490A:p.I830I 7q36.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCAPG2 237 0 118 48 0.289156626506024 TRUE TRUE +ENSG00000104755.15 . BCM GRCh38.p13 chr8 39838177 39838177 + G G A Silent SNP ENST00000265708.9 exon1 c.C9T p.R3R exonic ENSG00000104755.15 . synonymous SNV ENSG00000104755.15:ENST00000265708.9:exon1:c.C9T:p.R3R 8p11.22 C3L-00088 8.251e-06 0 8.66e-05 0 0 0 0 0 rs549926110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55866557;OCCURENCE=2(pancreas) ADAM2 273 0 145 40 0.216216216216216 TRUE TRUE +ENSG00000147804.10 . BCM GRCh38.p13 chr8 144416775 144416775 + G G T Silent SNP ENST00000301305.8 exon1 c.C15A p.V5V exonic ENSG00000147804.10 . synonymous SNV ENSG00000147804.10:ENST00000301305.8:exon1:c.C15A:p.V5V 8q24.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC39A4 376 0 263 25 0.0868055555555556 TRUE TRUE +ENSG00000162191.13 . BCM GRCh38.p13 chr11 62677581 62677581 + A A G Silent SNP ENST00000301935.9 exon7 c.T588C p.P196P exonic ENSG00000162191.13 . synonymous SNV ENSG00000162191.13:ENST00000301935.9:exon7:c.T588C:p.P196P 11q12.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBXN1 214 0 101 34 0.251851851851852 TRUE TRUE +ENSG00000155974.12 . BCM GRCh38.p13 chr12 66596851 66596851 + G G A Silent SNP ENST00000359742.8 exon2 c.C132T p.I44I exonic ENSG00000155974.12 . synonymous SNV ENSG00000155974.12:ENST00000359742.8:exon2:c.C132T:p.I44I 12q14.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIP1 463 0 258 72 0.218181818181818 TRUE TRUE +ENSG00000139514.13 . BCM GRCh38.p13 chr13 29523439 29523439 + C C T Silent SNP ENST00000380752.10 exon7 c.G876A p.A292A exonic ENSG00000139514.13 . synonymous SNV ENSG00000139514.13:ENST00000380752.10:exon7:c.G876A:p.A292A 13q12.3 C3L-00088 0.0006 0.0004 0.0004 0.0007 0.0003 0.0008 0.0011 0.0002 rs34941634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC7A1 369 0 244 24 0.0895522388059701 TRUE NA +ENSG00000180440.4 . BCM GRCh38.p13 chr13 36695309 36695309 + A A G Silent SNP ENST00000315190.4 exon2 c.A231G p.P77P exonic ENSG00000180440.4 . synonymous SNV ENSG00000180440.4:ENST00000315190.4:exon2:c.A231G:p.P77P 13q13.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERTM1 271 0 137 32 0.189349112426035 TRUE TRUE +ENSG00000102804.15 . BCM GRCh38.p13 chr13 44573249 44573249 + A A G Silent SNP ENST00000458659.3 exon1 c.T2826C p.S942S exonic ENSG00000102804.15 . synonymous SNV ENSG00000102804.15:ENST00000458659.3:exon1:c.T2826C:p.S942S 13q14.11 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSC22D1 204 0 113 43 0.275641025641026 TRUE TRUE +ENSG00000169783.12 . BCM GRCh38.p13 chr15 77615604 77615604 + C C T Silent SNP ENST00000355300.6 exon2 c.G303A p.E101E exonic ENSG00000169783.12 . synonymous SNV ENSG00000169783.12:ENST00000355300.6:exon2:c.G303A:p.E101E 15q24.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINGO1 251 1 110 30 0.214285714285714 TRUE TRUE +ENSG00000174938.14 . BCM GRCh38.p13 chr16 29896985 29896985 + G G T Silent SNP ENST00000308713.9 exon3 c.C348A p.G116G exonic ENSG00000174938.14 . synonymous SNV ENSG00000174938.14:ENST00000308713.9:exon3:c.C348A:p.G116G 16p11.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEZ6L2 176 0 93 28 0.231404958677686 TRUE TRUE +ENSG00000173821.19 . BCM GRCh38.p13 chr17 80343919 80343919 + A A T Silent SNP ENST00000508628.6 exon29 c.A6393T p.I2131I exonic ENSG00000173821.19 . synonymous SNV ENSG00000173821.19:ENST00000508628.6:exon29:c.A6393T:p.I2131I 17q25.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF213 344 0 220 73 0.249146757679181 TRUE TRUE +ENSG00000142449.13 . BCM GRCh38.p13 chr19 8123561 8123561 + G G A Silent SNP ENST00000600128.6 exon24 c.C2985T p.G995G exonic ENSG00000142449.13 . synonymous SNV ENSG00000142449.13:ENST00000600128.6:exon24:c.C2985T:p.G995G 19p13.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBN3 221 0 105 40 0.275862068965517 TRUE NA +ENSG00000226763.5 . BCM GRCh38.p13 chr19 43612838 43612838 + A A G Silent SNP ENST00000417606.3 exon1 c.A717G p.S239S exonic ENSG00000226763.5 . synonymous SNV ENSG00000226763.5:ENST00000417606.3:exon1:c.A717G:p.S239S 19q13.31 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRRM5 328 0 175 51 0.225663716814159 TRUE TRUE +ENSG00000130699.18 . BCM GRCh38.p13 chr20 62003273 62003273 + G G T Silent SNP ENST00000252996.8 exon9 c.C2373A p.V791V exonic ENSG00000130699.18 . synonymous SNV ENSG00000130699.18:ENST00000252996.8:exon9:c.C2373A:p.V791V 20q13.33 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAF4 198 0 90 39 0.302325581395349 TRUE TRUE +ENSG00000092758.18 . BCM GRCh38.p13 chr20 62822131 62822131 + C C A Silent SNP ENST00000649368.1 exon9 c.C444A p.G148G exonic ENSG00000092758.18 . synonymous SNV ENSG00000092758.18:ENST00000649368.1:exon9:c.C444A:p.G148G 20q13.33 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL9A3 141 0 69 29 0.295918367346939 TRUE TRUE +ENSG00000099889.14 . BCM GRCh38.p13 chr22 19973030 19973030 + C C G Silent SNP ENST00000263207.8 exon15 c.G2445C p.S815S exonic ENSG00000099889.14 . synonymous SNV ENSG00000099889.14:ENST00000263207.8:exon15:c.G2445C:p.S815S 22q11.21 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARVCF 234 0 116 41 0.261146496815287 TRUE TRUE +ENSG00000099917.17 . BCM GRCh38.p13 chr22 20585768 20585768 + T T C Silent SNP ENST00000263205.11 exon17 c.T2172C p.S724S exonic ENSG00000099917.17 . synonymous SNV ENSG00000099917.17:ENST00000263205.11:exon17:c.T2172C:p.S724S 22q11.21 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MED15 342 0 151 43 0.221649484536082 TRUE TRUE +ENSG00000075275.17 . BCM GRCh38.p13 chr22 46369794 46369794 + G G A Silent SNP ENST00000262738.8 exon26 c.C7770T p.V2590V exonic ENSG00000075275.17 . synonymous SNV ENSG00000075275.17:ENST00000262738.8:exon26:c.C7770T:p.V2590V 22q13.31 C3L-00088 . . . . . . . . rs867720885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CELSR1 193 0 76 33 0.302752293577982 TRUE NA +ENSG00000147124.12 . BCM GRCh38.p13 chrX 47449461 47449461 + C C A Silent SNP ENST00000377065.8 exon5 c.G309T p.G103G exonic ENSG00000147124.12 . synonymous SNV ENSG00000147124.12:ENST00000377065.8:exon5:c.G309T:p.G103G Xp11.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF41 129 0 42 34 0.447368421052632 TRUE TRUE +ENSG00000274588.2 . BCM GRCh38.p13 chrX 50376126 50376126 + G G C Silent SNP ENST00000611977.2 exon24 c.C3312G p.V1104V exonic ENSG00000274588.2 . synonymous SNV ENSG00000274588.2:ENST00000611977.2:exon24:c.C3312G:p.V1104V Xp11.22 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGKK 78 0 20 34 0.62962962962963 TRUE TRUE +ENSG00000274588.2 . BCM GRCh38.p13 chrX 50401137 50401137 + C C T Silent SNP ENST00000611977.2 exon8 c.G1311A p.V437V exonic ENSG00000274588.2 . synonymous SNV ENSG00000274588.2:ENST00000611977.2:exon8:c.G1311A:p.V437V Xp11.22 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGKK 92 0 65 15 0.1875 TRUE TRUE +ENSG00000158571.11 . BCM GRCh38.p13 chrX 54952064 54952064 + C C A Silent SNP ENST00000375006.8 exon8 c.G687T p.V229V exonic ENSG00000158571.11 . synonymous SNV ENSG00000158571.11:ENST00000375006.8:exon8:c.G687T:p.V229V Xp11.21 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PFKFB1 206 0 48 54 0.529411764705882 TRUE TRUE +ENSG00000162714.12 . BCM GRCh38.p13 chr1 247304038 247304038 + A A T Intron SNP NA NA NA NA intronic ENSG00000162714.12 . . . 1q44 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF496 63 0 41 12 0.226415094339623 TRUE NA +ENSG00000171174.15 . BCM GRCh38.p13 chr2 27870818 27870818 + A A C Intron SNP NA NA NA NA intronic ENSG00000171174.15 . . . 2p23.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBKS 148 0 91 14 0.133333333333333 TRUE NA +ENSG00000114491.14 . BCM GRCh38.p13 chr3 124731597 124731597 + T T C Intron SNP NA NA NA NA intronic ENSG00000114491.14 . . . 3q21.2 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UMPS 44 0 16 7 0.304347826086957 TRUE NA +ENSG00000080493.17 . BCM GRCh38.p13 chr4 71473042 71473042 + T T - Intron SNP NA NA NA NA intronic ENSG00000080493.17 . . . 4q13.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC4A4 275 0 160 51 0.241706161137441 TRUE NA +ENSG00000250309.2 . BCM GRCh38.p13 chr5 150672201 150672201 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000250309.2 . . . 5q33.1 C3L-00088 . . . . . . . . . 1.11 . . . . . N . . D 0.127 T T T 0.062 0.189 0.014 . . . T T T T 0.486 6.358 0.869 N N -1.324 0.152 -1.508 0.105 1.000 0.455 0.609 0.522 0.604 . 3.300 -2.060 -0.357 -2.282 -1.945 0.000 0.000 0.000 804 . . . . AC008453.1 372 0 189 117 0.382352941176471 TRUE NA +ENSG00000253522.6 . BCM GRCh38.p13 chr5 160485369 160485369 + - NA T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000253522.6;ENSG00000283733.1 . . . 5q33.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR3142HG NA NA NA NA NA NA NA +ENSG00000244151.1 . BCM GRCh38.p13 chr7 151075092 151075092 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000244151.1 . . . 7q36.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC010973.2 107 0 42 22 0.34375 TRUE NA +ENSG00000122952.17 . BCM GRCh38.p13 chr10 56358145 56358146 + TT TT - 3'UTR DEL NA NA NA NA UTR3 ENSG00000122952.17 ENST00000373944.8:c.*82_*81delAA . . 10q21.1 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZWINT 302 1 157 47 0.230392156862745 TRUE NA +ENSG00000010295.19 . BCM GRCh38.p13 chr12 6548843 6548843 + G G C Intron SNP NA NA NA NA intronic ENSG00000010295.19 . . . 12p13.31 C3L-00088 . . . . . . . . . 4.7 . T . . . D . . . 0.539 . . . . . 0.752 . T . D D . T 3.410 24.400 0.837 D . . . . . 1.000 0.156 0.156 0.084 0.147 0.963 4.560 4.560 5.047 1.176 0.676 1.000 1.000 1.000 702 Intermediate_filament,_rod_domain . . . IFFO1 172 0 88 7 0.0736842105263158 TRUE TRUE +ENSG00000183484.12 . BCM GRCh38.p13 chr14 105054160 105054160 + C C A Intron SNP NA NA NA NA intronic ENSG00000183484.12 . . . 14q32.33 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR132 50 0 39 6 0.133333333333333 TRUE NA +ENSG00000215421.9 . BCM GRCh38.p13 chr18 74803986 74803986 + A A G Intron SNP NA NA NA NA intronic ENSG00000215421.9 . . . 18q22.3 C3L-00088 . . . . . . . . . 0.16 T T B B . N . T N 0.063 T T T 0.064 0.301 0.068 . . . T T T T 1.426 15.260 0.183 N N -0.714 0.790 -0.698 0.903 1.000 0.428 0.547 0.547 0.613 . 5.710 3.920 0.963 0.134 -0.219 0.326 0.900 0.800 988 . . . . ZNF407 156 0 111 9 0.075 TRUE TRUE +ENSG00000131067.17 . BCM GRCh38.p13 chr20 34875096 34875103 + TGAAATGA TGAAATGA - IGR DEL NA NA NA NA intergenic ENSG00000131067.17;ENSG00000131069.20 dist=2240;dist=1509 . . 20q11.22 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GGT7 295 0 144 33 0.186440677966102 TRUE NA +ENSG00000158296.14 . BCM GRCh38.p13 chr20 46566452 46566452 + G G C Intron SNP NA NA NA NA intronic ENSG00000158296.14 . . . 20q13.12 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC13A3 56 0 20 5 0.2 TRUE NA +ENSG00000059122.16 . BCM GRCh38.p13 chr16 2933148 2933149 + AG AG TT Unknown MNP ENST00000253928.13 exon5 c.815_816delinsTT p.E272V exonic ENSG00000059122.16 . nonframeshift substitution ENSG00000059122.16:ENST00000253928.13:exon5:c.815_816delinsTT:p.E272V 16p13.3 C3L-00088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLYWCH1 150 19 61 20 0.246913580246914 TRUE TRUE +ENSG00000149527.18 . BCM GRCh38.p13 chr1 2504654 2504654 + - NA C Frame_Shift_Ins NA ENST00000378486.8 exon22 c.3693dupC p.F1233Lfs*31 exonic ENSG00000149527.18 . frameshift insertion ENSG00000149527.18:ENST00000378486.8:exon22:c.3693dupC:p.F1233Lfs*31 1p36.32 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCH2 NA NA NA NA NA NA NA +ENSG00000054523.17 . BCM GRCh38.p13 chr1 10345903 10345903 + G G C Missense_Mutation SNP ENST00000377086.5 exon35 c.G3747C p.K1249N exonic ENSG00000054523.17 . nonsynonymous SNV ENSG00000054523.17:ENST00000377086.5:exon35:c.G3747C:p.K1249N 1p36.22 C3L-00096 . . . . . . . . . 12.20 D D P B D D M T D 0.822 T T D 0.344 0.339 0.720 0.573 D D T T D D 2.590 22.600 0.994 D N -0.192 1.898 -0.166 1.869 0.055 0.706 0.602 0.710 0.684 . 5.630 -0.035 1.196 0.224 -0.114 1.000 1.000 0.996 226 . . . . KIF1B 298 0 232 73 0.239344262295082 TRUE TRUE +ENSG00000122420.10 . BCM GRCh38.p13 chr1 78493041 78493041 + C C T Missense_Mutation SNP ENST00000370757.8 exon2 c.C298T p.R100C exonic ENSG00000122420.10 . nonsynonymous SNV ENSG00000122420.10:ENST00000370757.8:exon2:c.C298T:p.R100C 1p31.1 C3L-00096 . . . . . . . . . 10.20 T T D P N D L D N 0.483 D D D 0.513 . 0.544 0.803 T T D T D D 3.588 25.000 0.999 D N 0.324 3.905 0.326 3.873 1.000 0.497 0.590 0.563 0.530 . 5.850 4.940 1.265 1.026 0.599 0.996 0.999 0.943 282 GPCR,_rhodopsin-like,_7TM . . ID=COSV66115350;OCCURENCE=1(large_intestine),3(skin) PTGFR 168 0 135 52 0.27807486631016 TRUE TRUE +ENSG00000065135.12 . BCM GRCh38.p13 chr1 109592186 109592187 + AC AC - Frame_Shift_Del DEL ENST00000369851.7 exon8 c.1018_1019del p.T340Rfs*5 exonic ENSG00000065135.12 . frameshift deletion ENSG00000065135.12:ENST00000369851.7:exon8:c.1018_1019del:p.T340Rfs*5 1p13.3 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GNAI3 87 0 97 32 0.248062015503876 TRUE TRUE +ENSG00000134262.13 . BCM GRCh38.p13 chr1 113901877 113901877 + C C A Missense_Mutation SNP ENST00000369569.6 exon3 c.G347T p.G116V exonic ENSG00000134262.13 . nonsynonymous SNV ENSG00000134262.13:ENST00000369569.6:exon3:c.G347T:p.G116V 1p13.2 C3L-00096 8.236e-06 0 0 0 0 1.498e-05 0 0 rs759341651 12.20 D D D D D D L T D 0.729 T T D 0.317 0.442 0.557 0.579 T T T T D D 4.000 27.000 0.998 D D 0.628 6.225 0.677 7.349 1.000 0.706 0.663 0.710 0.714 . 5.460 5.460 7.077 1.026 0.599 1.000 1.000 1.000 575 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . AP4B1 316 1 286 75 0.207756232686981 TRUE NA +ENSG00000143570.18 . BCM GRCh38.p13 chr1 153960739 153960739 + G G T Missense_Mutation SNP ENST00000356205.9 exon4 c.C334A p.Q112K exonic ENSG00000143570.18 . nonsynonymous SNV ENSG00000143570.18:ENST00000356205.9:exon4:c.C334A:p.Q112K 1q21.3 C3L-00096 . . . . . . . . . 7.19 T T P P D D . T N 0.443 T T T 0.145 0.691 0.578 0.859 T T D T D D 2.989 23.400 0.968 D D 0.405 4.376 0.480 4.978 1.000 0.722 0.699 0.699 0.714 . 5.430 5.430 2.705 1.176 0.676 0.996 1.000 0.970 71 . . . . SLC39A1 126 1 73 16 0.179775280898876 TRUE TRUE +ENSG00000116698.21 . BCM GRCh38.p13 chr1 183538415 183538416 + TT TT - Frame_Shift_Del DEL ENST00000347615.6 exon12 c.1270_1271del p.L425Gfs*43 exonic ENSG00000116698.21 . frameshift deletion ENSG00000116698.21:ENST00000347615.6:exon12:c.1270_1271del:p.L425Gfs*43 1q25.3 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMG7 83 0 168 34 0.168316831683168 TRUE TRUE +ENSG00000076356.7 . BCM GRCh38.p13 chr1 208079406 208079406 + A A G Missense_Mutation SNP ENST00000367033.4 exon12 c.T2440C p.C814R exonic ENSG00000076356.7 . nonsynonymous SNV ENSG00000076356.7:ENST00000367033.4:exon12:c.T2440C:p.C814R 1q32.2 C3L-00096 . . . . . . . . . 20.20 D D D D D D H D D 0.963 D D D 0.938 0.914 0.936 1.169 D D D D D D 4.134 28.100 0.998 D D 0.944 12.247 0.887 13.210 1.000 0.672 0.590 0.602 0.711 . 5.600 5.600 8.930 1.312 0.756 1.000 0.999 0.998 895 PSI_domain . . . PLXNA2 167 0 98 31 0.24031007751938 TRUE TRUE +ENSG00000138399.18 . BCM GRCh38.p13 chr2 169560501 169560501 + A A G Missense_Mutation SNP ENST00000453153.7 exon5 c.T857C p.I286T exonic ENSG00000138399.18 . nonsynonymous SNV ENSG00000138399.18:ENST00000453153.7:exon5:c.T857C:p.I286T 2q31.1 C3L-00096 . . . . . . . . . 0.20 T T B B N N L T N 0.116 T T T 0.031 0.529 0.030 0.162 T T T T T T -0.764 0.031 0.332 N N -1.269 0.183 -1.361 0.172 0.065 0.707 0.725 0.602 0.655 . 5.440 -5.180 -0.058 -0.038 -0.529 0.000 0.227 0.251 838 . . . . FASTKD1 12 0 34 7 0.170731707317073 TRUE TRUE +ENSG00000156983.16 . BCM GRCh38.p13 chr3 9744446 9744446 + G G C Missense_Mutation SNP ENST00000457855.1 exon8 c.G2840C p.S947T exonic ENSG00000156983.16 . nonsynonymous SNV ENSG00000156983.16:ENST00000457855.1:exon8:c.G2840C:p.S947T 3p25.3 C3L-00096 . . . . . . . . . 7.20 D T P B D D M T N 0.491 T T T 0.176 0.299 0.472 0.339 T T T T D T 2.608 22.700 0.980 D D 0.505 5.077 0.602 6.251 1.000 0.672 0.702 0.702 0.636 . 5.850 5.850 7.576 1.176 0.676 1.000 1.000 1.000 740 . . . . BRPF1 60 0 26 5 0.161290322580645 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149856 10149856 + T T C Missense_Mutation SNP ENST00000256474.3 exon3 c.T533C p.L178P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon3:c.T533C:p.L178P 3p25.3 C3L-00096 . . . . . . . . . 19.20 D D D D D D M D D 0.993 D D D 0.951 0.970 0.997 1.382 T D D D D D 4.259 29.200 0.999 D D 0.699 7.111 0.645 6.838 1.000 0.722 0.702 0.698 0.735 . 4.970 4.970 6.258 1.138 0.665 1.000 0.993 0.955 379 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56547906;OCCURENCE=1(soft_tissue),6(kidney) VHL 690 0 266 141 0.346437346437346 TRUE TRUE +ENSG00000163689.20 . BCM GRCh38.p13 chr3 58884673 58884673 + G G A Missense_Mutation SNP ENST00000482387.6 exon7 c.C587T p.T196I exonic ENSG00000163689.20 . nonsynonymous SNV ENSG00000163689.20:ENST00000482387.6:exon7:c.C587T:p.T196I 3p14.2 C3L-00096 . . . . . . . . . 2.18 T T B B N D L T N 0.274 T T T 0.052 0.228 0.246 0.148 . . T T T T 1.966 19.000 0.843 D N -0.527 1.123 -0.391 1.389 0.035 0.615 0.588 0.659 0.621 . 5.710 3.930 1.775 0.198 -0.135 1.000 0.737 0.555 468 . . . . C3orf67 92 0 81 38 0.319327731092437 TRUE TRUE +ENSG00000083857.14 . BCM GRCh38.p13 chr4 186603776 186603776 + G G A Missense_Mutation SNP ENST00000441802.7 exon19 c.C10750T p.P3584S exonic ENSG00000083857.14 . nonsynonymous SNV ENSG00000083857.14:ENST00000441802.7:exon19:c.C10750T:p.P3584S 4q35.2 C3L-00096 . . . . . . . . . 3.20 T T P B D D N T N 0.182 T T T 0.185 0.320 0.182 0.111 T T T T T T 1.676 16.860 0.584 D N -0.247 1.748 -0.142 1.932 1.000 0.672 0.574 0.702 0.668 . 5.210 5.210 2.472 1.176 0.676 0.997 0.047 0.069 849 Cadherin-like . . ID=COSV71674231;OCCURENCE=1(skin) FAT1 228 0 154 26 0.144444444444444 TRUE TRUE +ENSG00000172869.14 . BCM GRCh38.p13 chr5 119239077 119239077 + A A G Missense_Mutation SNP ENST00000311085.8 exon40 c.A8585G p.N2862S exonic ENSG00000172869.14 . nonsynonymous SNV ENSG00000172869.14:ENST00000311085.8:exon40:c.A8585G:p.N2862S 5q23.1 C3L-00096 1.664e-05 0 8.714e-05 0 0 1.517e-05 0 0 rs201010087 4.19 T . P P N D L T N 0.270 T T T 0.149 . 0.312 0.061 T T T T T D 2.831 23.100 0.994 D D 0.127 2.996 0.174 3.058 0.947 0.707 0.725 0.659 0.655 . 5.520 3.110 4.222 0.315 0.756 1.000 0.999 0.976 920 . . . . DMXL1 61 0 189 23 0.108490566037736 TRUE NA +ENSG00000112659.14 . BCM GRCh38.p13 chr6 43215253 43215253 + G G T Nonsense_Mutation SNP ENST00000252050.9 exon30 c.G5863T p.E1955X exonic ENSG00000112659.14 . stopgain ENSG00000112659.14:ENST00000252050.9:exon30:c.G5863T:p.E1955X 6p21.1 C3L-00096 . . . . . . . . . 4.6 . . . . N A . . . 0.142 . . . . . . . . . D D . . 7.924 40 0.997 D N 0.927 11.771 0.747 8.719 0.984 0.635 0.644 0.616 0.492 . 5.200 4.320 4.935 1.172 0.672 1.000 0.968 0.801 377 . . . . CUL9 250 0 106 60 0.36144578313253 TRUE TRUE +ENSG00000189056.14 . BCM GRCh38.p13 chr7 103545255 103545255 + T T - Frame_Shift_Del DEL ENST00000428762.6 exon42 c.6392delA p.Q2131Rfs*31 exonic ENSG00000189056.14 . frameshift deletion ENSG00000189056.14:ENST00000428762.6:exon42:c.6392delA:p.Q2131Rfs*31 7q22.1 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RELN 425 0 216 101 0.318611987381703 TRUE TRUE +ENSG00000189056.14 . BCM GRCh38.p13 chr7 103593825 103593825 + T T C Missense_Mutation SNP ENST00000428762.6 exon27 c.A3769G p.M1257V exonic ENSG00000189056.14 . nonsynonymous SNV ENSG00000189056.14:ENST00000428762.6:exon27:c.A3769G:p.M1257V 7q22.1 C3L-00096 . . . . . . . . . 6.20 T T B B D D L T N 0.681 T T T 0.130 0.495 0.379 0.171 T T T T D D 2.385 22.000 0.970 D D 0.063 2.744 0.277 3.586 1.000 0.615 0.574 0.574 0.646 . 5.950 5.950 5.860 1.138 0.665 1.000 1.000 0.998 909 . . . . RELN 166 0 215 112 0.342507645259939 TRUE TRUE +ENSG00000133863.8 . BCM GRCh38.p13 chr8 30846193 30846193 + C C T Missense_Mutation SNP ENST00000256246.5 exon1 c.G2825A p.G942E exonic ENSG00000133863.8 . nonsynonymous SNV ENSG00000133863.8:ENST00000256246.5:exon1:c.G2825A:p.G942E 8p12 C3L-00096 . . . . . . . . . 0.20 T T B B N N N T N 0.083 T T T 0.020 0.258 0.145 0.028 T T T T T T -0.610 0.069 0.273 N N -1.075 0.329 -1.129 0.347 0.994 0.554 0.574 0.602 0.550 . 5.620 -2.250 -0.707 -0.672 -0.236 0.000 0.000 0.001 736 . . . . TEX15 32 1 66 36 0.352941176470588 TRUE NA +ENSG00000185697.16 . BCM GRCh38.p13 chr8 66566188 66566188 + - NA A Frame_Shift_Ins NA ENST00000522677.7 exon15 c.2005_2006insT p.D669Vfs*3 exonic ENSG00000185697.16 . frameshift insertion ENSG00000185697.16:ENST00000522677.7:exon15:c.2005_2006insT:p.D669Vfs*3 8q13.1 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYBL1 NA NA NA NA NA NA NA +ENSG00000198879.12 . BCM GRCh38.p13 chr10 7367751 7367751 + C C T Missense_Mutation SNP ENST00000397167.5 exon4 c.G334A p.G112R exonic ENSG00000198879.12 . nonsynonymous SNV ENSG00000198879.12:ENST00000397167.5:exon4:c.G334A:p.G112R 10p14 C3L-00096 . . . . . . . . . 12.20 D D D D D D L T D 0.833 T T T 0.341 0.595 0.043 1.531 D T T T D D 4.036 27.200 0.999 D D 0.583 5.758 0.584 6.032 1.000 0.672 0.702 0.651 0.568 . 4.790 4.790 7.769 1.026 0.549 1.000 0.927 0.983 944 . . . ID=COSV62811652;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue),1(stomach) SFMBT2 450 0 250 29 0.103942652329749 TRUE TRUE +ENSG00000165923.16 . BCM GRCh38.p13 chr11 47682040 47682040 + C C A Missense_Mutation SNP ENST00000525123.6 exon12 c.G1844T p.R615L exonic ENSG00000165923.16 . nonsynonymous SNV ENSG00000165923.16:ENST00000525123.6:exon12:c.G1844T:p.R615L 11p11.2 C3L-00096 . . . . . . . . . 14.19 D D D D D D H T D 0.960 T T D 0.699 0.854 0.728 0.582 T T D D D . 4.062 27.400 0.994 D D 0.856 9.971 0.721 8.158 1.000 0.615 0.588 0.659 0.542 . 5.470 5.470 7.547 0.999 0.568 1.000 0.975 0.976 11 . . . . AGBL2 179 0 176 50 0.221238938053097 TRUE TRUE +ENSG00000174669.12 . BCM GRCh38.p13 chr11 66364350 66364350 + G G C Missense_Mutation SNP ENST00000357440.7 exon11 c.C1134G p.C378W exonic ENSG00000174669.12 . nonsynonymous SNV ENSG00000174669.12:ENST00000357440.7:exon11:c.C1134G:p.C378W 11q13.2 C3L-00096 . . . . . . . . . 16.20 D D D D D D H T D 0.951 T T D 0.703 0.920 0.611 0.664 T D D D D D 3.823 25.900 0.997 D D 0.095 2.867 0.159 2.989 1.000 0.778 0.644 0.854 0.700 . 5.320 3.390 2.308 1.172 0.672 1.000 1.000 0.999 61 . . . . SLC29A2 164 0 93 28 0.231404958677686 TRUE TRUE +ENSG00000048649.13 . BCM GRCh38.p13 chr11 77701994 77701994 + T T - Frame_Shift_Del DEL ENST00000308488.10 exon6 c.1235delA p.E412Gfs*3 exonic ENSG00000048649.13 . frameshift deletion ENSG00000048649.13:ENST00000308488.10:exon6:c.1235delA:p.E412Gfs*3 11q14.1 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSF1 39 0 83 19 0.186274509803922 TRUE TRUE +ENSG00000109971.14 . BCM GRCh38.p13 chr11 123060743 123060743 + C C T Missense_Mutation SNP ENST00000534624.6 exon3 c.G261A p.M87I exonic ENSG00000109971.14 . nonsynonymous SNV ENSG00000109971.14:ENST00000534624.6:exon3:c.G261A:p.M87I 11q24.1 C3L-00096 . . . . . . . . . 10.20 D T P P D D N T D 0.838 T T D 0.333 0.559 0.526 . D T T T D D 3.187 23.800 0.994 D D 0.220 3.393 0.314 3.799 1.000 0.628 0.672 0.686 0.639 . 4.190 4.190 7.903 1.026 0.549 1.000 1.000 0.979 929 . . . ID=COSV57085946;OCCURENCE=1(cervix) HSPA8 334 0 342 32 0.0855614973262032 NA TRUE +ENSG00000120471.15 . BCM GRCh38.p13 chr11 128937680 128937680 + A A T Missense_Mutation SNP ENST00000531399.5 exon2 c.T139A p.W47R exonic ENSG00000120471.15 . nonsynonymous SNV ENSG00000120471.15:ENST00000531399.5:exon2:c.T139A:p.W47R 11q24.3 C3L-00096 . . . . . . . . . 3.19 D D B B . N N T D 0.414 T T T 0.095 0.484 0.182 0.051 T T T T T T 1.159 13.300 0.488 N N -1.398 0.117 -1.501 0.107 0.976 0.497 0.563 0.608 0.542 . 1.930 -2.150 -0.063 -0.037 0.567 0.000 0.004 0.016 490 . . . . TP53AIP1 202 0 135 21 0.134615384615385 TRUE TRUE +ENSG00000173391.9 . BCM GRCh38.p13 chr12 10160906 10160906 + C C G Missense_Mutation SNP ENST00000309539.8 exon4 c.G444C p.W148C exonic ENSG00000173391.9 . nonsynonymous SNV ENSG00000173391.9:ENST00000309539.8:exon4:c.G444C:p.W148C 12p13.2 C3L-00096 . . . . . . . . . 18.20 D D D D D D M T D 0.892 D D D 0.495 0.804 0.928 0.632 T D D D D D 4.233 29.000 0.994 D D 0.777 8.346 0.697 7.696 1.000 0.497 0.492 0.547 0.542 . 4.980 4.980 3.516 1.026 0.599 0.989 0.995 0.961 849 C-type_lectin-like;Ly49-like,_N-terminal;Natural_killer_cell_receptor-like,_C-type_lectin-like_domain . . . OLR1 86 0 127 11 0.0797101449275362 TRUE TRUE +ENSG00000184613.10 . BCM GRCh38.p13 chr12 44815994 44815994 + C C G Missense_Mutation SNP ENST00000429094.6 exon3 c.G327C p.L109F exonic ENSG00000184613.10 . nonsynonymous SNV ENSG00000184613.10:ENST00000429094.6:exon3:c.G327C:p.L109F 12q12 C3L-00096 . . . . . . . . . 7.20 D D P P N D N T N 0.523 T T D 0.051 0.303 0.275 0.180 T T T T D D 1.879 18.330 0.991 D N 0.035 2.638 0.120 2.818 0.000 0.706 0.574 0.710 0.564 . 5.040 4.070 1.246 0.126 0.549 1.000 0.997 0.990 854 Laminin_G_domain . . . NELL2 84 0 233 51 0.179577464788732 TRUE TRUE +ENSG00000179104.9 . BCM GRCh38.p13 chr12 82857419 82857419 + T T A Missense_Mutation SNP ENST00000321196.8 exon2 c.T493A p.S165T exonic ENSG00000179104.9 . nonsynonymous SNV ENSG00000179104.9:ENST00000321196.8:exon2:c.T493A:p.S165T 12q21.31 C3L-00096 . . . . . . . . . 2.20 T T B B N D L T N 0.333 T T T 0.060 0.432 0.402 0.142 T T T T T T 1.223 13.820 0.821 D N -0.418 1.343 -0.229 1.719 1.000 0.707 0.725 0.676 0.655 . 5.600 3.020 2.840 1.138 0.665 0.979 0.993 0.945 724 . . . . TMTC2 210 0 109 88 0.446700507614213 TRUE TRUE +ENSG00000188596.11 . BCM GRCh38.p13 chr12 96647879 96647879 + C C T Nonsense_Mutation SNP ENST00000524981.9 exon34 c.C4552T p.R1518X exonic ENSG00000188596.11 . stopgain ENSG00000188596.11:ENST00000524981.9:exon34:c.C4552T:p.R1518X 12q23.1 C3L-00096 . . . . . . . . rs1043155735 4.5 . . . . . A . . . 0.080 . . . . . . . . . D D . . 7.944 40 0.997 D N 0.435 4.567 0.287 3.640 0.000 0.615 0.574 0.574 0.655 . 5.690 4.800 1.253 0.134 -0.249 1.000 0.998 0.956 592 . . . ID=COSV61571920;OCCURENCE=1(pancreas),1(prostate) CFAP54 57 0 185 80 0.30188679245283 TRUE NA +ENSG00000060709.15 . BCM GRCh38.p13 chr12 130422471 130422471 + C C T Missense_Mutation SNP ENST00000261655.8 exon13 c.G2452A p.V818M exonic ENSG00000060709.15 . nonsynonymous SNV ENSG00000060709.15:ENST00000261655.8:exon13:c.G2452A:p.V818M 12q24.33 C3L-00096 3.609e-05 0 0 0 0 4.814e-05 0 6.965e-05 rs372504138 1.20 T T B B N N N T N 0.144 T T T 0.026 . 0.115 0.277 T T T T T D -0.503 0.117 0.812 N N -1.558 0.065 -1.538 0.094 0.000 0.554 0.588 0.547 0.563 . 4.200 -2.850 0.037 -0.337 -0.313 0.001 0.000 0.002 993 . . . ID=COSV55471986;OCCURENCE=1(salivary_gland),1(liver),1(central_nervous_system),1(pancreas) RIMBP2 112 1 105 21 0.166666666666667 TRUE TRUE +ENSG00000139515.6 . BCM GRCh38.p13 chr13 27924495 27924495 + G G A Missense_Mutation SNP ENST00000381033.5 exon2 c.G646A p.G216R exonic ENSG00000139515.6 . nonsynonymous SNV ENSG00000139515.6:ENST00000381033.5:exon2:c.G646A:p.G216R 13q12.2 C3L-00096 . . . . . . . . rs1049166702 4.20 T T B B N N L D N 0.139 T D D 0.191 . 0.764 1.370 T T T T T T 1.983 19.130 0.997 D N -0.395 1.393 -0.352 1.460 1.000 0.598 0.590 0.616 0.639 . 4.780 4.780 1.810 1.007 0.590 0.977 0.103 0.256 923 . . . ID=COSV66847150;OCCURENCE=1(liver),1(large_intestine) PDX1 129 0 69 25 0.265957446808511 TRUE TRUE +ENSG00000140386.13 . BCM GRCh38.p13 chr15 76728658 76728658 + C C T Missense_Mutation SNP ENST00000563290.6 exon17 c.G2102A p.R701Q exonic ENSG00000140386.13 . nonsynonymous SNV ENSG00000140386.13:ENST00000563290.6:exon17:c.G2102A:p.R701Q 15q24.3 C3L-00096 . . . . . . . . . 11.18 D D . . D D L T D 0.748 T T D 0.196 . 0.389 2.832 T T D T D D 3.564 24.900 1.000 D D 0.637 6.323 0.656 7.009 1.000 0.563 0.654 0.602 0.636 . 5.120 5.120 7.351 1.021 0.596 1.000 1.000 0.992 266 . . . ID=COSV57738869;OCCURENCE=2(large_intestine),2(endometrium) SCAPER 225 0 186 51 0.215189873417722 TRUE TRUE +ENSG00000185615.16 . BCM GRCh38.p13 chr16 284498 284498 + C C T Missense_Mutation SNP ENST00000219406.11 exon2 c.C311T p.A104V exonic ENSG00000185615.16 . nonsynonymous SNV ENSG00000185615.16:ENST00000219406.11:exon2:c.C311T:p.A104V 16p13.3 C3L-00096 . . . . . . . . rs1037921792 1.20 T T B B D N N T N 0.277 T T T 0.060 . 0.544 . T T T T T T 1.072 12.490 0.683 N N -0.696 0.820 -0.772 0.798 0.236 0.581 0.551 0.604 0.605 . 4.140 2.150 1.057 0.877 0.517 0.132 0.003 0.001 753 Thioredoxin_domain . . ID=COSV99249555;OCCURENCE=1(urinary_tract) PDIA2 599 3 507 125 0.197784810126582 TRUE TRUE +ENSG00000066654.14 . BCM GRCh38.p13 chr16 20737898 20737898 + C C A Missense_Mutation SNP ENST00000396083.7 exon3 c.G465T p.K155N exonic ENSG00000066654.14 . nonsynonymous SNV ENSG00000066654.14:ENST00000396083.7:exon3:c.G465T:p.K155N 16p12.3 C3L-00096 . . . . . . . . . 10.20 T D D P D D M T D 0.704 T T D 0.227 0.468 0.857 0.726 T T T T D D 3.461 24.600 0.998 D N 0.272 3.637 0.229 3.331 1.000 0.732 0.744 0.725 0.714 . 5.550 2.190 0.686 1.026 0.599 1.000 1.000 0.999 184 THUMP_domain . . . THUMPD1 64 0 123 44 0.263473053892216 TRUE TRUE +ENSG00000124074.12 . BCM GRCh38.p13 chr16 67663521 67663521 + G G T Missense_Mutation SNP ENST00000243878.9 exon6 c.C779A p.A260D exonic ENSG00000124074.12 . nonsynonymous SNV ENSG00000124074.12:ENST00000243878.9:exon6:c.C779A:p.A260D 16q22.1 C3L-00096 . . . . . . . . . 1.19 T T P B N D L . N 0.398 T T T 0.061 0.407 0.723 0.703 T T T T T T 1.791 17.670 0.933 N N -0.026 2.421 -0.061 2.163 1.000 0.758 0.692 0.636 0.684 . 4.720 4.720 0.888 1.164 0.660 0.703 0.793 0.483 41 Enkurin_domain . . . ENKD1 154 1 89 33 0.270491803278689 TRUE TRUE +ENSG00000188895.12 . BCM GRCh38.p13 chr17 40134324 40134324 + G G T Missense_Mutation SNP ENST00000398532.9 exon9 c.G1800T p.L600F exonic ENSG00000188895.12 . nonsynonymous SNV ENSG00000188895.12:ENST00000398532.9:exon9:c.G1800T:p.L600F 17q21.1 C3L-00096 . . . . . . . . . 6.17 D T . . D D N . N 0.305 T T T 0.093 0.170 0.300 1.588 T T T T D D 3.550 24.900 0.950 D N 0.122 2.975 0.243 3.402 1.000 0.731 0.702 0.702 0.649 . 6.040 5.070 2.202 1.176 0.676 1.000 1.000 0.999 203 . . . . MSL1 193 1 136 30 0.180722891566265 TRUE TRUE +ENSG00000187775.17 . BCM GRCh38.p13 chr17 78449421 78449421 + G G A Missense_Mutation SNP ENST00000389840.7 exon69 c.C11204T p.T3735M exonic ENSG00000187775.17 . nonsynonymous SNV ENSG00000187775.17:ENST00000389840.7:exon69:c.C11204T:p.T3735M 17q25.3 C3L-00096 4.388e-05 0.0004 0 0 0 0 0 0 rs368944814 5.13 . . . . N N . T . 0.432 T T D 0.251 . 0.317 . T . T T D D 3.472 24.600 0.998 D D 0.117 2.953 0.026 2.452 0.852 0.615 0.634 0.608 0.613 . 4.480 4.480 5.412 1.176 0.676 0.959 0.004 0.299 878 . . . . DNAH17 137 0 73 24 0.247422680412371 TRUE NA +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8959410 8959410 + G G T Missense_Mutation SNP ENST00000397910.8 exon3 c.C17360A p.T5787N exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.C17360A:p.T5787N 19p13.2 C3L-00096 . . . . . . . . . 2.15 D D . . . N . T N 0.102 T T T 0.068 0.113 0.132 . T . T T T T 1.011 11.770 0.421 N N -0.432 1.315 -0.655 0.965 0.002 0.487 0.574 0.574 0.564 . 1.680 1.680 0.522 0.690 0.353 0.002 0.007 0.062 906 . . . . MUC16 208 1 97 70 0.419161676646707 TRUE TRUE +ENSG00000198077.10 . BCM GRCh38.p13 chr19 40880103 40880103 + G G A Missense_Mutation SNP ENST00000301146.8 exon4 c.C635T p.T212M exonic ENSG00000198077.10 . nonsynonymous SNV ENSG00000198077.10:ENST00000301146.8:exon4:c.C635T:p.T212M 19q13.2 C3L-00096 7.424e-05 0.0009 0 0 0 0 0 0 rs138321167 0.20 T T P B U N N T N 0.426 T T T 0.090 . 0.609 0.159 T T T T T T 0.595 7.462 0.718 N N -0.891 0.531 -0.962 0.537 0.000 0.455 0.590 0.607 0.530 . 2.160 2.160 0.230 1.020 0.330 0.000 0.614 0.030 561 . . . ID=COSV52508391;OCCURENCE=1(large_intestine) CYP2A7 180 0 161 33 0.170103092783505 NA TRUE +ENSG00000104892.17 . BCM GRCh38.p13 chr19 45346756 45346756 + C C G Missense_Mutation SNP ENST00000391946.7 exon3 c.C471G p.D157E exonic ENSG00000104892.17 . nonsynonymous SNV ENSG00000104892.17:ENST00000391946.7:exon3:c.C471G:p.D157E 19q13.32 C3L-00096 . . . . . . . . . 11.20 D D D D D D L T D 0.664 T T D 0.170 0.373 0.348 0.021 T T T T D T 2.574 22.600 0.975 D D 0.087 2.835 -0.039 2.229 1.000 0.526 0.551 0.441 0.584 . 4.260 2.120 2.668 0.074 0.500 0.996 0.123 0.490 917 . . . . KLC3 210 0 123 35 0.221518987341772 TRUE TRUE +ENSG00000142552.8 . BCM GRCh38.p13 chr19 49543183 49543184 + GG GG - Frame_Shift_Del DEL ENST00000270645.8 exon7 c.957_958del p.D320Pfs*7 exonic ENSG00000142552.8 . frameshift deletion ENSG00000142552.8:ENST00000270645.8:exon7:c.957_958del:p.D320Pfs*7 19q13.33 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RCN3 311 0 160 30 0.157894736842105 TRUE TRUE +ENSG00000119508.18 . BCM GRCh38.p13 chr9 99844648 99844648 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000119508.18 ENST00000395097.7:exon6:c.1255-1G>T . . 9q31.1 C3L-00096 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.054 35 0.995 D . 1.232 27.026 1.111 28.362 1.000 0.081 0.085 0.060 0.106 0.989 6.170 6.170 7.651 1.176 0.676 1.000 1.000 0.999 809 . . . . NR4A3 223 0 131 47 0.264044943820225 TRUE TRUE +ENSG00000149403.13 . BCM GRCh38.p13 chr11 120985902 120985902 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000149403.13 ENST00000527524.8:exon21:c.2515-2A>T . . 11q23.3 C3L-00096 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.725 34 0.992 D . 0.960 12.717 0.769 9.262 1.000 0.114 0.153 0.184 0.166 0.854 4.310 4.310 6.835 1.226 0.656 1.000 0.884 0.444 716 . . . . GRIK4 222 0 179 41 0.186363636363636 TRUE TRUE +ENSG00000116176.6 . BCM GRCh38.p13 chr16 1222343 1222343 + T T G Splice_Site SNP NA NA NA NA splicing ENSG00000116176.6 ENST00000234798.4:exon5:c.512-2A>C . . 16p13.3 C3L-00096 . . . . . . . . . 0.4 . . . . . N . . . . . . . . . . . . . T T . . 4.292 29.500 0.830 N . 0.513 5.136 0.212 3.244 0.005 0.056 0.061 0.072 0.079 0.102 3.540 2.390 1.796 0.952 0.663 0.983 0.332 0.709 929 . . . . TPSG1 54 0 40 4 0.0909090909090909 TRUE NA +ENSG00000162849.16 . BCM GRCh38.p13 chr1 245698302 245698302 + C C T Silent SNP ENST00000407071.7 exon13 c.C6021T p.A2007A exonic ENSG00000162849.16 . synonymous SNV ENSG00000162849.16:ENST00000407071.7:exon13:c.C6021T:p.A2007A 1q44 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF26B 142 0 93 16 0.146788990825688 TRUE TRUE +ENSG00000145198.14 . BCM GRCh38.p13 chr3 184238344 184238344 + T T C Silent SNP ENST00000426955.6 exon12 c.T1761C p.F587F exonic ENSG00000145198.14 . synonymous SNV ENSG00000145198.14:ENST00000426955.6:exon12:c.T1761C:p.F587F 3q27.1 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA5B2 57 0 30 8 0.210526315789474 TRUE TRUE +ENSG00000111962.8 . BCM GRCh38.p13 chr6 149074042 149074042 + C C T Silent SNP ENST00000367463.5 exon8 c.C1147T p.L383L exonic ENSG00000111962.8 . synonymous SNV ENSG00000111962.8:ENST00000367463.5:exon8:c.C1147T:p.L383L 6q25.1 C3L-00096 1.648e-05 0 0 0 0 2.997e-05 0 0 rs778113075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UST 314 1 140 60 0.3 TRUE NA +ENSG00000151474.23 . BCM GRCh38.p13 chr10 13657360 13657360 + G G A Silent SNP ENST00000357447.7 exon22 c.C2229T p.P743P exonic ENSG00000151474.23 . synonymous SNV ENSG00000151474.23:ENST00000357447.7:exon22:c.C2229T:p.P743P 10p13 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRMD4A 204 0 140 48 0.25531914893617 TRUE TRUE +ENSG00000133812.15 . BCM GRCh38.p13 chr11 9832350 9832350 + G G T Silent SNP ENST00000256190.12 exon27 c.C3526A p.R1176R exonic ENSG00000133812.15 . synonymous SNV ENSG00000133812.15:ENST00000256190.12:exon27:c.C3526A:p.R1176R 11p15.4 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SBF2 402 0 316 28 0.0813953488372093 TRUE TRUE +ENSG00000137699.17 . BCM GRCh38.p13 chr11 120127341 120127341 + G G A Silent SNP ENST00000341846.10 exon3 c.C1129T p.L377L exonic ENSG00000137699.17 . synonymous SNV ENSG00000137699.17:ENST00000341846.10:exon3:c.C1129T:p.L377L 11q23.3 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM29 86 0 59 14 0.191780821917808 TRUE TRUE +ENSG00000186897.5 . BCM GRCh38.p13 chr12 49336091 49336091 + G G A Silent SNP ENST00000334221.5 exon1 c.C387T p.D129D exonic ENSG00000186897.5 . synonymous SNV ENSG00000186897.5:ENST00000334221.5:exon1:c.C387T:p.D129D 12q13.12 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1QL4 288 1 244 60 0.197368421052632 TRUE TRUE +ENSG00000136108.15 . BCM GRCh38.p13 chr13 52465456 52465456 + A A T Silent SNP ENST00000378037.9 exon6 c.A1470T p.A490A exonic ENSG00000136108.15 . synonymous SNV ENSG00000136108.15:ENST00000378037.9:exon6:c.A1470T:p.A490A 13q14.3 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CKAP2 64 0 138 51 0.26984126984127 TRUE TRUE +ENSG00000102452.17 . BCM GRCh38.p13 chr13 101055388 101055388 + G G A Silent SNP ENST00000251127.11 exon44 c.C5124T p.D1708D exonic ENSG00000102452.17 . synonymous SNV ENSG00000102452.17:ENST00000251127.11:exon44:c.C5124T:p.D1708D 13q32.3 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51975679;OCCURENCE=1(stomach) NALCN 174 0 78 25 0.242718446601942 TRUE NA +ENSG00000041515.16 . BCM GRCh38.p13 chr13 109140496 109140496 + C C T Silent SNP ENST00000356711.7 exon32 c.C4218T p.D1406D exonic ENSG00000041515.16 . synonymous SNV ENSG00000041515.16:ENST00000356711.7:exon32:c.C4218T:p.D1406D 13q33.3 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO16 261 0 150 23 0.132947976878613 TRUE TRUE +ENSG00000105011.9 . BCM GRCh38.p13 chr19 14120486 14120486 + G G C Silent SNP ENST00000263382.8 exon4 c.C582G p.L194L exonic ENSG00000105011.9 . synonymous SNV ENSG00000105011.9:ENST00000263382.8:exon4:c.C582G:p.L194L 19p13.12 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASF1B 229 0 204 12 0.0555555555555556 TRUE TRUE +ENSG00000153896.19 . BCM GRCh38.p13 chr19 34759742 34759742 + T T A Silent SNP ENST00000329285.13 exon4 c.A1059T p.T353T exonic ENSG00000153896.19 . synonymous SNV ENSG00000153896.19:ENST00000329285.13:exon4:c.A1059T:p.T353T 19q13.11 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF599 220 0 139 8 0.054421768707483 NA TRUE +ENSG00000105409.19 . BCM GRCh38.p13 chr19 41978262 41978262 + G G A Silent SNP ENST00000644613.1 exon13 c.C1695T p.D565D exonic ENSG00000105409.19;ENSG00000285505.1 . synonymous SNV ENSG00000285505.1:ENST00000644613.1:exon13:c.C1695T:p.D565D,ENSG00000105409.19:ENST00000648268.1:exon13:c.C1695T:p.D565D 19q13.2 C3L-00096 0.0003 0 0 0 0 0.0006 0 0 rs375255226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100132647;OCCURENCE=1(stomach) ATP1A3 358 1 306 82 0.211340206185567 TRUE NA +ENSG00000256683.7 . BCM GRCh38.p13 chr19 51965835 51965835 + A A G Silent SNP ENST00000243644.9 exon5 c.T618C p.H206H exonic ENSG00000256683.7 . synonymous SNV ENSG00000256683.7:ENST00000243644.9:exon5:c.T618C:p.H206H 19q13.41 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF350 108 0 198 53 0.211155378486056 TRUE TRUE +ENSG00000125851.10 . BCM GRCh38.p13 chr20 17465374 17465374 + C C T Silent SNP ENST00000262545.7 exon11 c.C1251T p.S417S exonic ENSG00000125851.10 . synonymous SNV ENSG00000125851.10:ENST00000262545.7:exon11:c.C1251T:p.S417S 20p12.1 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCSK2 137 0 89 29 0.245762711864407 TRUE TRUE +ENSG00000101189.7 . BCM GRCh38.p13 chr20 62796625 62796625 + G G A Silent SNP ENST00000370487.5 exon1 c.G102A p.E34E exonic ENSG00000101189.7 . synonymous SNV ENSG00000101189.7:ENST00000370487.5:exon1:c.G102A:p.E34E 20q13.33 C3L-00096 0.0006 0 0 0 0 0 0 0.0013 rs552458407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRGBP 104 0 82 27 0.247706422018349 TRUE NA +ENSG00000141956.13 . BCM GRCh38.p13 chr21 41810835 41810835 + C C A Silent SNP ENST00000269844.4 exon27 c.G3492T p.G1164G exonic ENSG00000141956.13 . synonymous SNV ENSG00000141956.13:ENST00000269844.4:exon27:c.G3492T:p.G1164G 21q22.3 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM15 213 0 144 52 0.26530612244898 TRUE TRUE +ENSG00000199047.3 . BCM GRCh38.p13 chr5 149732833 149732833 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199047.3 . . . 5q32 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR378A 174 0 121 36 0.229299363057325 TRUE NA +ENSG00000137501.17 . BCM GRCh38.p13 chr11 85726941 85726941 + G G C Intron SNP NA NA NA NA intronic ENSG00000137501.17 . . . 11q14.1 C3L-00096 . . . . . . . . . 1.9 . T . . N D . . . 0.155 T T T 0.097 . . . . . . . . T 0.970 11.250 0.993 N N -0.009 2.478 -0.024 2.278 1.000 0.554 0.590 0.618 0.635 . 5.900 5.900 2.249 1.176 0.676 0.030 0.578 0.896 408 . . . . SYTL2 117 0 99 37 0.272058823529412 TRUE NA +ENSG00000110318.15 . BCM GRCh38.p13 chr11 101955795 101955795 + C C T Intron SNP NA NA NA NA intronic ENSG00000110318.15 . . . 11q22.1 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEP126 38 0 27 8 0.228571428571429 TRUE NA +ENSG00000254932.2 . BCM GRCh38.p13 chr11 125258934 125258934 + T T G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254932.2 . . . 11q24.2 C3L-00096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP001007.1 49 0 35 6 0.146341463414634 TRUE NA +ENSG00000142599.19 . BCM GRCh38.p13 chr1 8359819 8359819 + T T C Missense_Mutation SNP ENST00000400908.7 exon19 c.A3563G p.K1188R exonic ENSG00000142599.19 . nonsynonymous SNV ENSG00000142599.19:ENST00000400908.7:exon19:c.A3563G:p.K1188R 1p36.23 C3L-00097 . . . . . . . . . 3.19 T T B B . D N T N 0.269 T T T 0.084 0.424 0.351 0.292 T T T T T D 2.071 19.790 0.094 D N -0.499 1.178 -0.284 1.598 1.000 0.707 0.702 0.723 0.714 . 5.280 5.280 4.862 1.138 0.665 1.000 0.999 0.949 861 . . . . RERE 186 0 119 46 0.278787878787879 TRUE TRUE +ENSG00000175262.14 . BCM GRCh38.p13 chr1 10970008 10970008 + C C T Missense_Mutation SNP ENST00000377004.8 exon3 c.G209A p.G70E exonic ENSG00000175262.14 . nonsynonymous SNV ENSG00000175262.14:ENST00000377004.8:exon3:c.G209A:p.G70E 1p36.22 C3L-00097 . . . . . . . . . 5.14 D D . . . N . T D 0.536 T T D 0.111 0.489 0.275 0.162 . . T T D T 1.788 17.650 0.971 N N -0.430 1.318 -0.494 1.212 1.000 0.447 0.492 0.608 0.530 . 4.640 3.710 1.187 0.920 0.511 0.034 0.771 0.434 917 . . . . C1orf127 139 0 107 23 0.176923076923077 TRUE TRUE +ENSG00000143196.5 . BCM GRCh38.p13 chr1 168714231 168714231 + A A G Missense_Mutation SNP ENST00000367817.4 exon2 c.T421C p.Y141H exonic ENSG00000143196.5 . nonsynonymous SNV ENSG00000143196.5:ENST00000367817.4:exon2:c.T421C:p.Y141H 1q24.2 C3L-00097 . . . . . . . . . 11.20 T T D D D D M T N 0.898 T T T 0.384 0.705 0.849 0.219 T T D D D D 3.688 25.400 0.998 D D 0.718 7.378 0.716 8.059 1.000 0.487 0.574 0.547 0.564 . 5.810 5.810 8.629 1.312 0.756 1.000 0.712 0.874 922 . . . . DPT 150 0 81 45 0.357142857142857 TRUE TRUE +ENSG00000154305.18 . BCM GRCh38.p13 chr1 222660219 222660221 + GTG GTG - In_Frame_Del DEL ENST00000344922.10 exon24 c.5018_5020del p.G1675del exonic ENSG00000154305.18 . nonframeshift deletion ENSG00000154305.18:ENST00000344922.10:exon24:c.5018_5020del:p.G1675del 1q41 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIA3 88 0 64 20 0.238095238095238 TRUE TRUE +ENSG00000055332.18 . BCM GRCh38.p13 chr2 37107339 37107347 + AGATGTGTT AGATGTGTT - In_Frame_Del DEL ENST00000233057.9 exon17 c.1582_1590del p.N528_S530del exonic ENSG00000055332.18 . nonframeshift deletion ENSG00000055332.18:ENST00000233057.9:exon17:c.1582_1590del:p.N528_S530del 2p22.2 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF2AK2 203 0 198 26 0.116071428571429 TRUE TRUE +ENSG00000138035.15 . BCM GRCh38.p13 chr2 55672897 55672897 + G G A Missense_Mutation SNP ENST00000447944.7 exon9 c.C862T p.H288Y exonic ENSG00000138035.15 . nonsynonymous SNV ENSG00000138035.15:ENST00000447944.7:exon9:c.C862T:p.H288Y 2p16.1 C3L-00097 0.0006 0.0065 0.0002 0 0 0 0 0 rs141543222 1.19 T T B B N N L T N 0.278 T T T 0.048 . 0.288 0.161 T T T T T . 2.103 20.100 0.933 D N -0.677 0.852 -0.521 1.169 0.893 0.707 0.725 0.725 0.714 . 5.770 1.710 2.388 -0.205 -0.148 0.998 0.464 0.961 608 Polyribonucleotide_nucleotidyltransferase,_RNA-binding_domain . . . PNPT1 57 0 40 12 0.230769230769231 TRUE NA +ENSG00000174501.14 . BCM GRCh38.p13 chr2 95855637 95855637 + C C T Missense_Mutation SNP ENST00000456556.5 exon63 c.G4624A p.A1542T exonic ENSG00000174501.14 . nonsynonymous SNV ENSG00000174501.14:ENST00000456556.5:exon63:c.G4624A:p.A1542T 2q11.1 C3L-00097 . . . . . . . . . 0.15 T T . . . N . T N 0.028 T T T 0.036 0.185 0.040 . . T T T T T 0.885 10.270 0.094 N N -1.582 0.059 -1.573 0.083 0.000 0.563 0.654 0.565 0.636 . 2.110 -0.772 0.887 -0.608 -1.814 0.890 0.292 0.155 256 CCDC144C-like,_coiled-coil_domain . . . ANKRD36C 402 0 283 95 0.251322751322751 NA TRUE +ENSG00000155729.13 . BCM GRCh38.p13 chr2 200493239 200493239 + - NA T Frame_Shift_Ins INS ENST00000359878.8 exon6 c.696dupA p.E233Rfs*30 exonic ENSG00000155729.13 . frameshift insertion ENSG00000155729.13:ENST00000359878.8:exon6:c.696dupA:p.E233Rfs*30 2q33.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD18 NA NA NA NA NA NA NA +ENSG00000181378.14 . BCM GRCh38.p13 chr2 219032543 219032543 + A A T Missense_Mutation SNP ENST00000341552.10 exon6 c.T572A p.V191D exonic ENSG00000181378.14 . nonsynonymous SNV ENSG00000181378.14:ENST00000341552.10:exon6:c.T572A:p.V191D 2q35 C3L-00097 . . . . . . . . . 9.19 D D D P N N . T D 0.733 T T D 0.228 0.653 0.679 0.468 T T T T D D 3.795 25.800 0.977 D D 0.133 3.019 0.083 2.665 0.003 0.447 0.563 0.547 0.530 . 5.370 3.020 4.128 1.312 0.756 0.987 0.815 0.968 595 . . . . CFAP65 94 0 63 26 0.292134831460674 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142055 10142055 + G G T Nonsense_Mutation SNP ENST00000256474.3 exon1 c.G208T p.E70X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon1:c.G208T:p.E70X 3p25.3 C3L-00097 . . . . . . . . rs5030802 4.6 . . . . N A . . . 0.858 . . . . . . . . . D D . . 7.636 38 0.996 D N 0.721 7.419 0.565 5.807 1.000 0.442 0.522 0.522 0.562 . 5.430 4.560 2.171 1.002 0.586 1.000 0.995 0.731 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56544079;OCCURENCE=12(kidney) VHL 313 0 116 71 0.379679144385027 TRUE TRUE +ENSG00000163520.14 . BCM GRCh38.p13 chr3 13630761 13630761 + C C A Missense_Mutation SNP ENST00000295760.11 exon14 c.C2890A p.Q964K exonic ENSG00000163520.14 . nonsynonymous SNV ENSG00000163520.14:ENST00000295760.11:exon14:c.C2890A:p.Q964K 3p25.1 C3L-00097 . . . . . . . . . 18.20 D D D D D D L D D 0.688 D D D 0.666 . 0.797 0.643 T D D D D D 3.942 26.600 0.996 D D 0.391 4.290 0.455 4.773 1.000 0.696 0.588 0.723 0.613 . 5.260 4.380 7.900 1.026 0.599 1.000 1.000 0.998 929 EGF-like_domain;Complement_Clr-like_EGF_domain;EGF-like_calcium-binding_domain . . . FBLN2 134 0 49 18 0.26865671641791 TRUE TRUE +ENSG00000185313.8 . BCM GRCh38.p13 chr3 38771292 38771292 + C C T Missense_Mutation SNP ENST00000449082.3 exon5 c.G586A p.V196I exonic ENSG00000185313.8 . nonsynonymous SNV ENSG00000185313.8:ENST00000449082.3:exon5:c.G586A:p.V196I 3p22.2 C3L-00097 . . . . . . . . . 15.20 T T D D D D L D N 0.498 D D D 0.730 0.767 0.898 0.318 T D D D D D 3.130 23.700 0.999 D D 0.759 8.024 0.753 8.861 1.000 0.487 0.574 0.574 0.613 . 5.150 5.150 6.167 1.026 0.599 1.000 0.971 0.856 673 Ion_transport_domain . . ID=COSV71861574;OCCURENCE=1(central_nervous_system),1(soft_tissue),1(skin),1(lung) SCN10A 81 0 37 17 0.314814814814815 TRUE TRUE +ENSG00000186448.15 . BCM GRCh38.p13 chr3 44631137 44631137 + C C T Missense_Mutation SNP ENST00000344387.9 exon3 c.C466T p.L156F exonic ENSG00000186448.15 . nonsynonymous SNV ENSG00000186448.15:ENST00000344387.9:exon3:c.C466T:p.L156F 3p21.31 C3L-00097 . . . . . . . . . 0.19 T T B B N N N T N 0.085 T T T 0.013 0.288 0.130 0.120 T T T T T . -0.096 0.846 0.478 N N -1.236 0.202 -1.244 0.248 0.043 0.707 0.725 0.644 0.636 . 4.510 -0.260 -0.690 -0.417 -0.202 0.000 0.001 0.014 326 . . . . ZNF197 170 1 90 48 0.347826086956522 TRUE TRUE +ENSG00000113810.16 . BCM GRCh38.p13 chr3 160428822 160428822 + T T A Missense_Mutation SNP ENST00000357388.8 exon18 c.T2675A p.V892E exonic ENSG00000113810.16 . nonsynonymous SNV ENSG00000113810.16:ENST00000357388.8:exon18:c.T2675A:p.V892E 3q25.33 C3L-00097 . . . . . . . . . 7.20 T T P P N D L T N 0.564 T T D 0.318 0.498 0.868 0.279 T T D T D D 2.658 22.700 0.943 D D -0.074 2.258 0.102 2.743 1.000 0.672 0.702 0.702 0.711 . 6.070 6.070 7.874 1.138 0.665 1.000 0.919 0.571 753 RecF/RecN/SMC,_N-terminal . . . SMC4 245 0 163 62 0.275555555555556 TRUE TRUE +ENSG00000157404.16 . BCM GRCh38.p13 chr4 54736738 54736738 + G G T Nonsense_Mutation SNP ENST00000288135.6 exon19 c.G2614T p.G872X exonic ENSG00000157404.16 . stopgain ENSG00000157404.16:ENST00000288135.6:exon19:c.G2614T:p.G872X 4q12 C3L-00097 . . . . . . . . . 5.6 . . . . D A . . . 0.969 . . . . . . . . . D D . . 9.034 47 0.988 D N 1.016 14.433 0.839 11.384 1.000 0.732 0.574 0.744 0.669 . 5.590 5.590 5.620 1.176 0.676 1.000 0.913 0.412 894 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . KIT 378 3 311 91 0.22636815920398 TRUE TRUE +ENSG00000138639.18 . BCM GRCh38.p13 chr4 86000672 86000672 + A A T Missense_Mutation SNP ENST00000395184.6 exon10 c.A2197T p.T733S exonic ENSG00000138639.18 . nonsynonymous SNV ENSG00000138639.18:ENST00000395184.6:exon10:c.A2197T:p.T733S 4q21.3 C3L-00097 . . . . . . . . . 9.20 D T D D D D M T N 0.282 T T T 0.186 0.109 0.694 0.516 T T T T D T 3.494 24.700 0.997 D D 0.624 6.173 0.656 7.007 0.999 0.672 0.588 0.574 0.711 . 5.760 5.760 6.295 1.308 0.756 1.000 0.996 0.972 604 . . . . ARHGAP24 272 1 213 100 0.319488817891374 TRUE TRUE +ENSG00000151729.11 . BCM GRCh38.p13 chr4 185145785 185145785 + C C T Missense_Mutation SNP ENST00000281456.11 exon3 c.C625T p.H209Y exonic ENSG00000151729.11 . nonsynonymous SNV ENSG00000151729.11:ENST00000281456.11:exon3:c.C625T:p.H209Y 4q35.1 C3L-00097 . . . . . . . . . 12.20 T T P B D D L T D 0.825 D D D 0.475 0.396 0.869 2.031 T D D T D D 2.525 22.500 0.996 D D 0.555 5.498 0.627 6.573 1.000 0.707 0.696 0.698 0.714 . 5.540 5.540 7.892 1.010 0.580 1.000 0.996 0.994 939 . . . . SLC25A4 148 0 116 53 0.313609467455621 TRUE TRUE +ENSG00000113594.10 . BCM GRCh38.p13 chr5 38510627 38510627 + T T - Frame_Shift_Del DEL ENST00000453190.7 exon7 c.828delA p.V277Cfs*5 exonic ENSG00000113594.10 . frameshift deletion ENSG00000113594.10:ENST00000453190.7:exon7:c.828delA:p.V277Cfs*5 5p13.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIFR 190 0 135 59 0.304123711340206 TRUE TRUE +ENSG00000078795.16 . BCM GRCh38.p13 chr5 137899695 137899695 + T T A Missense_Mutation SNP ENST00000508883.5 exon5 c.T704A p.F235Y exonic ENSG00000078795.16 . nonsynonymous SNV ENSG00000078795.16:ENST00000508883.5:exon5:c.T704A:p.F235Y 5q31.2 C3L-00097 . . . . . . . . . 18.20 D D D D D D M T D 0.855 D D D 0.826 0.921 0.835 0.810 T D D D D D 3.978 26.800 0.997 D D 0.892 10.856 0.840 11.413 1.000 0.487 0.492 0.574 0.613 . 5.510 5.510 7.809 1.118 0.665 1.000 0.993 0.998 142 Polycystin_cation_channel,_PKD1/PKD2 . . . PKD2L2 177 0 101 49 0.326666666666667 TRUE TRUE +ENSG00000072786.13 . BCM GRCh38.p13 chr5 172052936 172052936 + C C G Missense_Mutation SNP ENST00000176763.10 exon18 c.G2759C p.R920P exonic ENSG00000072786.13 . nonsynonymous SNV ENSG00000072786.13:ENST00000176763.10:exon18:c.G2759C:p.R920P 5q35.1 C3L-00097 . . . . . . . . . 18.20 D D D D D D M T D 0.857 D D D 0.753 0.480 0.888 1.266 T D D D D D 4.372 31 0.998 D D 0.753 7.936 0.682 7.435 1.000 0.744 0.702 0.630 0.714 . 4.640 4.640 5.017 1.026 0.599 1.000 0.997 0.988 964 . . . . STK10 156 0 89 42 0.320610687022901 TRUE TRUE +ENSG00000187987.9 . BCM GRCh38.p13 chr6 28434863 28434863 + A A C Missense_Mutation SNP ENST00000289788.4 exon4 c.T772G p.F258V exonic ENSG00000187987.9 . nonsynonymous SNV ENSG00000187987.9:ENST00000289788.4:exon4:c.T772G:p.F258V 6p22.1 C3L-00097 . . . . . . . . . 13.20 D D D D D D H T D 0.483 T T T 0.397 0.905 0.802 1.059 T T D D D T 4.082 27.600 0.991 D D 0.893 10.870 0.790 9.840 1.000 0.651 0.588 0.651 0.568 . 4.560 4.560 8.935 1.292 0.733 1.000 1.000 1.000 624 Zinc_finger_C2H2-type . . . ZSCAN23 242 0 187 76 0.288973384030418 TRUE TRUE +ENSG00000065060.17 . BCM GRCh38.p13 chr6 34858933 34858933 + G G C Missense_Mutation SNP ENST00000192788.6 exon14 c.G2577C p.M859I exonic ENSG00000065060.17 . nonsynonymous SNV ENSG00000065060.17:ENST00000192788.6:exon14:c.G2577C:p.M859I 6p21.31 C3L-00097 . . . . . . . . . 2.20 T T B B N N M T N 0.176 T T T 0.025 0.186 0.327 0.143 T T T T T T 2.029 19.470 0.956 D N -0.307 1.598 -0.093 2.067 0.999 0.719 0.654 0.723 0.636 . 5.700 3.900 3.417 1.176 0.618 1.000 1.000 0.989 280 . . . . UHRF1BP1 162 0 150 8 0.0506329113924051 TRUE NA +ENSG00000079841.18 . BCM GRCh38.p13 chr6 71887117 71887117 + G G A Missense_Mutation SNP ENST00000521978.5 exon1 c.G94A p.E32K exonic ENSG00000079841.18 . nonsynonymous SNV ENSG00000079841.18:ENST00000521978.5:exon1:c.G94A:p.E32K 6q13 C3L-00097 . . . . . . . . . 17.20 D D D D D D M T N 0.868 D D D 0.802 0.492 0.964 1.653 D T D D D D 4.334 29.900 0.999 D D 0.877 10.484 0.817 10.643 1.000 0.598 0.627 0.504 0.639 . 4.960 4.960 9.345 1.164 0.660 1.000 0.994 0.644 890 Rab-binding_domain . . . RIMS1 163 0 130 32 0.197530864197531 TRUE TRUE +ENSG00000189241.8 . BCM GRCh38.p13 chr6 116279734 116279734 + A A - Frame_Shift_Del DEL ENST00000368608.4 exon1 c.97delT p.Y33Tfs*2 exonic ENSG00000189241.8 . frameshift deletion ENSG00000189241.8:ENST00000368608.4:exon1:c.97delT:p.Y33Tfs*2 6q22.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPYL1 241 0 133 59 0.307291666666667 TRUE TRUE +ENSG00000131018.24 . BCM GRCh38.p13 chr6 152318864 152318864 + T T - Frame_Shift_Del DEL ENST00000367255.10 exon85 c.16388delA p.K5463Rfs*7 exonic ENSG00000131018.24 . frameshift deletion ENSG00000131018.24:ENST00000367255.10:exon85:c.16388delA:p.K5463Rfs*7 6q25.2 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE1 247 0 186 64 0.256 TRUE TRUE +ENSG00000122678.17 . BCM GRCh38.p13 chr7 44073868 44073868 + G G T Missense_Mutation SNP ENST00000242248.10 exon9 c.C1229A p.P410Q exonic ENSG00000122678.17 . nonsynonymous SNV ENSG00000122678.17:ENST00000242248.10:exon9:c.C1229A:p.P410Q 7p13 C3L-00097 . . . . . . . . . 1.20 T T B B N N M T N 0.204 T T T 0.034 0.423 0.384 0.119 T T T T T T 0.645 7.942 0.806 N N -0.828 0.615 -0.935 0.574 1.000 0.672 0.702 0.723 0.562 . 4.110 -0.111 -0.184 1.064 0.654 0.000 0.023 0.110 680 DNA-directed_DNA_polymerase_X . . . POLM 200 0 222 44 0.165413533834586 TRUE TRUE +ENSG00000196313.11 . BCM GRCh38.p13 chr7 72926338 72926338 + T T A Missense_Mutation SNP ENST00000434423.4 exon2 c.T721A p.C241S exonic ENSG00000196313.11 . nonsynonymous SNV ENSG00000196313.11:ENST00000434423.4:exon2:c.T721A:p.C241S 7q11.23 C3L-00097 . . . . . . . . . 0.19 T T B B . N N T N 0.091 T T T 0.050 0.525 0.014 . T T T T T T 1.373 14.900 0.751 N N -1.217 0.215 -1.289 0.216 1.000 0.543 0.686 0.686 0.639 . 3.920 -2.430 0.141 -0.214 0.361 0.000 0.938 0.954 422 . . . . POM121 338 0 337 58 0.146835443037975 NA TRUE +ENSG00000127928.13 . BCM GRCh38.p13 chr7 93910822 93910822 + C C A Nonsense_Mutation SNP ENST00000248572.10 exon3 c.C129A p.Y43X exonic ENSG00000127928.13 . stopgain ENSG00000127928.13:ENST00000248572.10:exon3:c.C129A:p.Y43X 7q21.3 C3L-00097 . . . . . . . . . 4.6 . . . . D D . . . 0.396 . . . . . . . . . D D . . 4.555 32 0.917 N N -0.584 1.017 -0.905 0.613 1.000 0.487 0.574 0.574 0.607 . 5.600 -5.300 -0.115 -3.659 -1.990 0.719 0.010 0.015 872 G-protein_gamma-like_domain . . . GNGT1 119 0 139 19 0.120253164556962 NA TRUE +ENSG00000157219.5 . BCM GRCh38.p13 chr7 155071235 155071235 + G G T Missense_Mutation SNP ENST00000287907.3 exon1 c.G336T p.R112S exonic ENSG00000157219.5 . nonsynonymous SNV ENSG00000157219.5:ENST00000287907.3:exon1:c.G336T:p.R112S 7q36.2 C3L-00097 . . . . . . . . . 1.20 T T B B N N N T N 0.067 T T D 0.082 0.608 0.687 0.390 T T T T T T 0.441 5.873 0.991 N N -0.839 0.600 -0.771 0.799 0.013 0.598 0.574 0.596 0.530 . 4.520 -1.230 -0.625 -0.241 0.672 0.014 0.965 0.899 988 GPCR,_rhodopsin-like,_7TM . . . HTR5A 188 1 132 99 0.428571428571429 TRUE TRUE +ENSG00000189233.12 . BCM GRCh38.p13 chr8 28023360 28023360 + C C G Missense_Mutation SNP ENST00000413272.7 exon19 c.G2348C p.R783T exonic ENSG00000189233.12 . nonsynonymous SNV ENSG00000189233.12:ENST00000413272.7:exon19:c.G2348C:p.R783T 8p21.1 C3L-00097 . . . . . . . . . 2.20 D D B B N N L T N 0.233 T T T 0.021 0.195 0.067 0.255 T T T T T T 1.323 14.550 0.943 N N -0.736 0.754 -0.743 0.838 0.541 0.625 0.608 0.547 0.530 . 5.410 2.250 -0.164 0.102 0.542 0.001 0.049 0.324 759 . . . . NUGGC 127 0 93 41 0.305970149253731 TRUE TRUE +ENSG00000122694.16 . BCM GRCh38.p13 chr9 36148552 36148552 + C C T Missense_Mutation SNP ENST00000377960.9 exon3 c.C128T p.S43F exonic ENSG00000122694.16 . nonsynonymous SNV ENSG00000122694.16:ENST00000377960.9:exon3:c.C128T:p.S43F 9p13.3 C3L-00097 . . . . . . . . . 12.20 D D D P D D M T D 0.731 T T D 0.342 0.714 0.468 0.739 T T T T D D 3.979 26.800 0.997 D D 0.706 7.199 0.726 8.273 1.000 0.722 0.378 0.710 0.735 . 5.610 5.610 7.397 1.026 0.599 1.000 0.946 0.950 562 CAP_domain;Golgi-associated_plant_pathogenesis-related_protein_1,_SCP_domain . . ID=COSV104686948;OCCURENCE=1(skin) GLIPR2 108 0 91 24 0.208695652173913 TRUE TRUE +ENSG00000136802.11 . BCM GRCh38.p13 chr9 128908785 128908785 + C C T Missense_Mutation SNP ENST00000259324.5 exon3 c.C1621T p.R541W exonic ENSG00000136802.11 . nonsynonymous SNV ENSG00000136802.11:ENST00000259324.5:exon3:c.C1621T:p.R541W 9q34.11 C3L-00097 . . . . . . . . . 10.20 D D D P N D L T D 0.826 T T T 0.294 0.536 0.258 1.737 D T T T D D 4.104 27.800 0.999 D D 0.396 4.320 0.404 4.387 1.000 0.719 0.702 0.723 0.711 . 5.670 3.780 4.142 1.026 0.599 1.000 0.998 0.982 898 . . . ID=COSV52187695;OCCURENCE=1(breast),1(large_intestine) LRRC8A 154 0 123 36 0.226415094339623 TRUE TRUE +ENSG00000120549.18 . BCM GRCh38.p13 chr10 24473807 24473807 + C C G Missense_Mutation SNP ENST00000376454.8 exon6 c.C1426G p.H476D exonic ENSG00000120549.18 . nonsynonymous SNV ENSG00000120549.18:ENST00000376454.8:exon6:c.C1426G:p.H476D 10p12.1 C3L-00097 . . . . . . . . . 16.20 D D D D D D M T D 0.862 T T D 0.357 0.150 0.667 0.665 T D D D D D 3.154 23.800 0.989 D D 0.669 6.708 0.614 6.400 1.000 0.693 0.670 0.659 0.668 . 5.650 5.650 7.376 1.026 0.599 1.000 0.035 0.190 940 . . . . KIAA1217 133 0 108 38 0.26027397260274 TRUE TRUE +ENSG00000175395.16 . BCM GRCh38.p13 chr10 37953720 37953720 + G G - Frame_Shift_Del DEL ENST00000302609.8 exon5 c.277delC p.Q93Rfs*42 exonic ENSG00000175395.16 . frameshift deletion ENSG00000175395.16:ENST00000302609.8:exon5:c.277delC:p.Q93Rfs*42 10p11.21 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF25 258 0 159 49 0.235576923076923 TRUE TRUE +ENSG00000014919.13 . BCM GRCh38.p13 chr10 99724020 99724020 + G G T Nonsense_Mutation SNP ENST00000016171.6 exon5 c.C686A p.S229X exonic ENSG00000014919.13 . stopgain ENSG00000014919.13:ENST00000016171.6:exon5:c.C686A:p.S229X 10q24.2 C3L-00097 1.647e-05 0 0 0 0 2.997e-05 0 0 rs201002908 5.6 . . . . D A . . . 0.974 . . . . . . . . . D D . . 7.696 39 0.995 D N 0.979 13.281 0.833 11.164 1.000 0.707 0.725 0.725 0.714 . 4.750 4.750 9.206 1.172 0.672 1.000 1.000 0.993 698 . . . . COX15 387 1 254 113 0.307901907356948 TRUE NA +ENSG00000166341.8 . BCM GRCh38.p13 chr11 6622758 6622758 + C C A Missense_Mutation SNP ENST00000299441.5 exon21 c.G8918T p.G2973V exonic ENSG00000166341.8 . nonsynonymous SNV ENSG00000166341.8:ENST00000299441.5:exon21:c.G8918T:p.G2973V 11p15.4 C3L-00097 . . . . . . . . . 2.19 T T P B N D L T N 0.633 T T T 0.151 0.261 0.701 0.303 T T T T D T 1.949 18.860 0.991 N . 0.044 2.670 0.103 2.745 1.000 0.672 0.844 0.723 0.711 . 4.710 3.750 1.069 1.026 0.599 0.999 0.999 0.998 528 . . . . DCHS1 179 0 120 48 0.285714285714286 TRUE TRUE +ENSG00000121680.16 . BCM GRCh38.p13 chr11 45915832 45915832 + A A T Missense_Mutation SNP ENST00000378750.10 exon4 c.T230A p.L77Q exonic ENSG00000121680.16 . nonsynonymous SNV ENSG00000121680.16:ENST00000378750.10:exon4:c.T230A:p.L77Q 11p11.2 C3L-00097 . . . . . . . . . 6.20 T T D P N D L T N 0.508 T T T 0.166 0.427 0.361 1.053 T T T T D D 3.777 25.700 0.993 D D 0.421 4.473 0.475 4.936 1.000 0.707 0.698 0.702 0.714 . 4.990 4.990 7.987 1.312 0.756 1.000 0.977 0.965 462 . . . . PEX16 238 1 172 57 0.248908296943231 TRUE TRUE +ENSG00000280204.3 . BCM GRCh38.p13 chr11 58215454 58215454 + C C T Missense_Mutation SNP ENST00000624470.2 exon1 c.C710T p.A237V exonic ENSG00000280204.3 . nonsynonymous SNV ENSG00000280204.3:ENST00000624470.2:exon1:c.C710T:p.A237V 11q12.1 C3L-00097 . . . . . . . . . 1.16 . . B B N N M . . . T T T 0.055 0.592 . . T T T T T T 1.599 16.370 0.988 N N -0.585 1.014 -0.647 0.976 0.000 0.487 0.574 0.574 0.564 . 3.230 2.250 -0.102 0.012 0.310 0.000 0.431 0.329 360 GPCR,_rhodopsin-like,_7TM . . . OR1S1 275 0 225 59 0.207746478873239 NA TRUE +ENSG00000072518.20 . BCM GRCh38.p13 chr11 63906113 63906113 + - NA G Frame_Shift_Ins INS ENST00000402010.6 exon17 c.1961dupG p.N655Efs*4 exonic ENSG00000072518.20 . frameshift insertion ENSG00000072518.20:ENST00000402010.6:exon17:c.1961dupG:p.N655Efs*4 11q13.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARK2 NA NA NA NA NA NA NA +ENSG00000175294.6 . BCM GRCh38.p13 chr11 66017154 66017154 + T T A Missense_Mutation SNP ENST00000312106.6 exon11 c.A2222T p.H741L exonic ENSG00000175294.6 . nonsynonymous SNV ENSG00000175294.6:ENST00000312106.6:exon11:c.A2222T:p.H741L 11q13.1 C3L-00097 . . . . . . . . . 4.20 T T B B U N L D D 0.303 T D D 0.261 0.344 0.483 0.362 T T T T T T 0.710 8.550 0.932 N N -1.049 0.354 -0.957 0.545 1.000 0.581 0.590 0.578 0.605 . 5.390 0.063 -0.320 0.203 -0.127 0.006 0.951 0.447 207 . . . . CATSPER1 138 0 72 41 0.36283185840708 TRUE TRUE +ENSG00000109906.14 . BCM GRCh38.p13 chr11 114247332 114247332 + C C A Missense_Mutation SNP ENST00000335953.9 exon6 c.C1759A p.H587N exonic ENSG00000109906.14 . nonsynonymous SNV ENSG00000109906.14:ENST00000335953.9:exon6:c.C1759A:p.H587N 11q23.2 C3L-00097 . . . . . . . . . 9.20 T T D D D D N T N 0.655 T T T 0.331 0.410 0.609 2.385 D T T T D D 3.765 25.700 0.989 D D 0.551 5.455 0.641 6.781 1.000 0.563 0.590 0.573 0.636 . 5.570 5.570 6.125 1.026 0.599 1.000 1.000 0.998 917 Zinc_finger_C2H2-type . . . ZBTB16 202 1 142 51 0.264248704663212 TRUE TRUE +ENSG00000139163.16 . BCM GRCh38.p13 chr12 22671351 22671351 + T T A Missense_Mutation SNP ENST00000671733.1 exon5 c.T1047A p.F349L exonic ENSG00000139163.16 . nonsynonymous SNV ENSG00000139163.16:ENST00000671733.1:exon5:c.T1047A:p.F349L 12p12.1 C3L-00097 . . . . . . . . . 15.20 D D D D D D M T D 0.767 T T D 0.463 0.645 0.914 1.743 D T D D D D 3.838 26.000 0.998 D N 0.109 2.923 0.068 2.609 0.003 0.732 0.744 0.725 0.646 . 5.260 0.307 3.517 1.120 0.587 1.000 1.000 0.994 452 . . . . ETNK1 164 0 107 41 0.277027027027027 TRUE TRUE +ENSG00000139174.12 . BCM GRCh38.p13 chr12 42464993 42464993 + T T - Frame_Shift_Del DEL ENST00000345127.9 exon7 c.1041delA p.R347Sfs*10 exonic ENSG00000139174.12 . frameshift deletion ENSG00000139174.12:ENST00000345127.9:exon7:c.1041delA:p.R347Sfs*10 12q12 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRICKLE1 47 0 28 20 0.416666666666667 TRUE TRUE +ENSG00000240771.8 . BCM GRCh38.p13 chr12 57614356 57614364 + TGTCTGAAA TGTCTGAAA - In_Frame_Del DEL ENST00000286494.9 exon7 c.682_690del p.C228_K230del exonic ENSG00000240771.8 . nonframeshift deletion ENSG00000240771.8:ENST00000286494.9:exon7:c.682_690del:p.C228_K230del 12q13.3 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGEF25 267 0 145 36 0.198895027624309 TRUE TRUE +ENSG00000133858.17 . BCM GRCh38.p13 chr12 71630851 71630851 + C C T Missense_Mutation SNP ENST00000378743.9 exon17 c.G3574A p.G1192R exonic ENSG00000133858.17 . nonsynonymous SNV ENSG00000133858.17:ENST00000378743.9:exon17:c.G3574A:p.G1192R 12q21.1 C3L-00097 . . . . . . . . . 16.20 D D D D D D M T D 0.905 T T D 0.660 0.757 0.123 1.233 D T D D D D 3.916 26.400 0.999 D D 0.795 8.688 0.745 8.678 1.000 0.707 0.725 0.609 0.714 . 4.810 4.810 7.083 1.026 0.599 1.000 1.000 0.998 877 Putative_zinc-finger_domain . . . ZFC3H1 121 0 96 31 0.244094488188976 TRUE TRUE +ENSG00000139372.15 . BCM GRCh38.p13 chr12 103979956 103979956 + - NA T Frame_Shift_Ins INS ENST00000392872.8 exon3 c.293dupT p.T99Yfs*5 exonic ENSG00000139372.15 . frameshift insertion ENSG00000139372.15:ENST00000392872.8:exon3:c.293dupT:p.T99Yfs*5 12q23.3 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDG NA NA NA NA NA NA NA +ENSG00000204852.16 . BCM GRCh38.p13 chr12 110632502 110632502 + T T - Nonsense_Mutation SNP ENST00000551590.5 exon5 c.655delT p.L220* exonic ENSG00000204852.16 . stopgain ENSG00000204852.16:ENST00000551590.5:exon5:c.655delT:p.L220* 12q24.11 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCTN1 425 0 309 123 0.284722222222222 TRUE TRUE +ENSG00000122971.9 . BCM GRCh38.p13 chr12 120725899 120725899 + T T A Missense_Mutation SNP ENST00000242592.9 exon1 c.T14A p.L5Q exonic ENSG00000122971.9 . nonsynonymous SNV ENSG00000122971.9:ENST00000242592.9:exon1:c.T14A:p.L5Q 12q24.31 C3L-00097 . . . . . . . . . 10.20 D D D D U N N D N 0.614 D D D 0.502 0.496 0.944 0.204 T T D D T T 3.326 24.200 0.946 N N -0.210 1.847 -0.348 1.468 1.000 0.442 0.522 0.504 0.373 . 3.070 3.070 1.596 0.937 0.519 0.136 0.003 0.003 507 . . . . ACADS 119 0 113 46 0.289308176100629 TRUE TRUE +ENSG00000092201.10 . BCM GRCh38.p13 chr14 21359484 21359484 + C C A Missense_Mutation SNP ENST00000216297.7 exon19 c.G2301T p.Q767H exonic ENSG00000092201.10 . nonsynonymous SNV ENSG00000092201.10:ENST00000216297.7:exon19:c.G2301T:p.Q767H 14q11.2 C3L-00097 . . . . . . . . . 19.19 D D D D D D M . D 0.691 D D D 0.339 0.469 0.539 2.801 D D D D D D 5.327 33 0.998 D D 0.919 11.556 0.842 11.469 1.000 0.707 0.725 0.702 0.714 . 5.680 5.680 5.379 1.026 0.599 1.000 0.990 0.905 940 . . . . SUPT16H 106 0 70 38 0.351851851851852 TRUE TRUE +ENSG00000140043.11 . BCM GRCh38.p13 chr14 73882438 73882438 + G G T Missense_Mutation SNP ENST00000556551.2 exon8 c.G769T p.A257S exonic ENSG00000140043.11;ENSG00000258653.3 . nonsynonymous SNV ENSG00000258653.3:ENST00000556551.2:exon8:c.G769T:p.A257S,ENSG00000140043.11:ENST00000555661.5:exon9:c.G979T:p.A327S 14q24.3 C3L-00097 . . . . . . . . . 5.20 T T B B N D L T N 0.177 T T D 0.179 0.275 0.794 0.152 T T T T D T 4.771 33 0.915 D D 0.037 2.646 0.193 3.149 1.000 0.638 0.670 0.659 0.668 . 3.840 3.840 9.195 1.150 0.642 1.000 0.998 0.996 359 . . . . PTGR2 65 0 49 22 0.309859154929577 TRUE TRUE +ENSG00000166949.16 . BCM GRCh38.p13 chr15 67165283 67165283 + C C T Missense_Mutation SNP ENST00000327367.9 exon3 c.C431T p.T144I exonic ENSG00000166949.16 . nonsynonymous SNV ENSG00000166949.16:ENST00000327367.9:exon3:c.C431T:p.T144I 15q22.33 C3L-00097 . . . . . . . . . 18.20 D D B B D D M D D 0.734 D D D 0.587 0.351 0.835 1.460 D D D D D D 3.186 23.800 0.996 D D 0.289 3.722 0.387 4.264 1.000 0.742 0.702 0.775 0.649 . 4.710 4.710 7.765 1.026 0.594 1.000 1.000 0.999 927 . . . . SMAD3 230 0 146 71 0.327188940092166 TRUE TRUE +ENSG00000068305.17 . BCM GRCh38.p13 chr15 99712607 99712607 + C C T Missense_Mutation SNP ENST00000557942.5 exon12 c.C1354T p.P452S exonic ENSG00000068305.17 . nonsynonymous SNV ENSG00000068305.17:ENST00000557942.5:exon12:c.C1354T:p.P452S 15q26.3 C3L-00097 . . . . . . . . . 16.18 D T D D D D . T D 0.785 D D D 0.508 . 0.489 0.408 D . D D D D 3.714 25.500 0.998 D D 0.903 11.139 0.894 13.510 1.000 0.672 0.702 0.660 0.636 . 5.970 5.970 7.434 1.026 0.597 1.000 1.000 0.997 728 . . . . MEF2A 264 0 166 58 0.258928571428571 TRUE NA +ENSG00000072818.12 . BCM GRCh38.p13 chr17 7348373 7348373 + A A C Missense_Mutation SNP ENST00000158762.8 exon17 c.A1576C p.I526L exonic ENSG00000072818.12 . nonsynonymous SNV ENSG00000072818.12:ENST00000158762.8:exon17:c.A1576C:p.I526L 17p13.1 C3L-00097 . . . . . . . . . 1.20 T T B B N N N T N 0.300 T T T 0.103 0.434 0.589 0.497 T T T T T T 1.519 15.860 0.950 D N -0.445 1.288 -0.252 1.665 0.999 0.672 0.702 0.723 0.613 . 5.220 3.030 1.522 -0.048 0.756 0.376 0.953 0.994 207 Arf_GTPase_activating_protein . . . ACAP1 30 0 22 4 0.153846153846154 TRUE TRUE +ENSG00000141052.17 . BCM GRCh38.p13 chr17 12752474 12752474 + G G A Missense_Mutation SNP ENST00000343344.8 exon10 c.G1186A p.A396T exonic ENSG00000141052.17 . nonsynonymous SNV ENSG00000141052.17:ENST00000343344.8:exon10:c.G1186A:p.A396T 17p12 C3L-00097 . . . . . . . . . 6.20 T T D P D D L T N 0.230 T T T 0.148 0.376 0.271 0.085 T T T T D D 2.851 23.100 0.995 D N 0.084 2.825 0.061 2.578 0.003 0.554 0.574 0.602 0.564 . 5.780 3.710 4.086 0.224 0.618 1.000 0.664 0.970 941 SAP_domain . . . MYOCD 85 0 57 15 0.208333333333333 TRUE TRUE +ENSG00000176974.20 . BCM GRCh38.p13 chr17 18340159 18340159 + - NA T Frame_Shift_Ins INS ENST00000316694.8 exon7 c.697dupA p.S233Kfs*14 exonic ENSG00000176974.20 . frameshift insertion ENSG00000176974.20:ENST00000316694.8:exon7:c.697dupA:p.S233Kfs*14 17p11.2 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHMT1 NA NA NA NA NA NA NA +ENSG00000108352.12 . BCM GRCh38.p13 chr17 40188935 40188935 + C C G Missense_Mutation SNP ENST00000620260.5 exon5 c.C903G p.D301E exonic ENSG00000108352.12 . nonsynonymous SNV ENSG00000108352.12:ENST00000620260.5:exon5:c.C903G:p.D301E 17q21.1 C3L-00097 . . . . . . . . . 8.17 D D . . D D . T N 0.396 T T T 0.188 0.344 0.043 . D T T T D D 1.725 17.200 0.990 D N -0.070 2.271 -0.002 2.351 0.009 0.706 0.588 0.710 0.492 . 5.730 2.270 1.480 0.138 0.599 1.000 1.000 0.993 245 . . . . RAPGEFL1 128 0 70 18 0.204545454545455 TRUE TRUE +ENSG00000123159.16 . BCM GRCh38.p13 chr19 14482964 14482964 + G G C Missense_Mutation SNP ENST00000393033.9 exon4 c.C13G p.L5V exonic ENSG00000123159.16 . nonsynonymous SNV ENSG00000123159.16:ENST00000393033.9:exon4:c.C13G:p.L5V 19p13.12 C3L-00097 . . . . . . . . . 11.20 D D P P D D L D N 0.391 D D D 0.445 0.265 0.836 0.721 T T T T D D 2.716 22.900 0.997 D N 0.091 2.850 0.036 2.487 0.009 0.706 0.710 0.723 0.714 . 3.980 2.930 1.777 -0.209 -0.130 0.994 0.996 0.995 964 . . . . GIPC1 135 0 68 25 0.268817204301075 TRUE TRUE +ENSG00000126261.13 . BCM GRCh38.p13 chr19 34460550 34460550 + A A T Missense_Mutation SNP ENST00000246548.9 exon14 c.A1482T p.E494D exonic ENSG00000126261.13 . nonsynonymous SNV ENSG00000126261.13:ENST00000246548.9:exon14:c.A1482T:p.E494D 19q13.11 C3L-00097 . . . . . . . . . 11.20 D D P B D D M T D 0.837 T T T 0.075 0.207 0.748 0.362 D T T T D D 3.166 23.800 0.996 D D 0.215 3.369 0.313 3.792 1.000 0.707 0.702 0.702 0.714 . 5.440 5.440 3.161 1.312 0.691 1.000 1.000 0.993 907 Ubiquitin/SUMO-activating_enzyme_ubiquitin-like_domain . . . UBA2 64 1 45 13 0.224137931034483 TRUE TRUE +ENSG00000089351.14 . BCM GRCh38.p13 chr19 35013549 35013549 + - NA GG Frame_Shift_Ins INS ENST00000317991.9 exon9 c.728_729insGG p.E244Gfs*6 exonic ENSG00000089351.14 . frameshift insertion ENSG00000089351.14:ENST00000317991.9:exon9:c.728_729insGG:p.E244Gfs*6 19q13.11 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRAMD1A NA NA NA NA NA NA NA +ENSG00000196218.13 . BCM GRCh38.p13 chr19 38572109 38572109 + G G C Missense_Mutation SNP ENST00000359596.8 exon95 c.G13837C p.G4613R exonic ENSG00000196218.13 . nonsynonymous SNV ENSG00000196218.13:ENST00000359596.8:exon95:c.G13837C:p.G4613R 19q13.2 C3L-00097 . . . . . . . . . 14.19 T . D D U D M D N 0.762 D D D 0.679 0.669 0.983 0.684 T D D D D T 3.576 25.000 0.969 D D 0.714 7.323 0.725 8.240 1.000 0.626 0.611 0.805 0.613 . 5.760 5.760 8.065 1.176 0.676 1.000 0.999 0.989 650 Ryanodine_Receptor_TM_4-6 . . . RYR1 228 0 156 78 0.333333333333333 TRUE TRUE +ENSG00000159885.14 . BCM GRCh38.p13 chr19 44032230 44032230 + T T A Missense_Mutation SNP ENST00000187879.12 exon4 c.T556A p.S186T exonic ENSG00000159885.14 . nonsynonymous SNV ENSG00000159885.14:ENST00000187879.12:exon4:c.T556A:p.S186T 19q13.31 C3L-00097 . . . . . . . . . 2.19 D T B B . N L T N 0.219 T T T 0.064 0.558 0.329 0.278 T T T T D T 1.914 18.590 0.982 N N -0.408 1.366 -0.508 1.190 0.000 0.566 0.616 0.609 0.636 . 2.790 2.790 0.131 0.753 0.519 0.000 0.180 0.730 605 Zinc_finger_C2H2-type . . . ZNF222 344 0 258 109 0.29700272479564 NA TRUE +ENSG00000101361.17 . BCM GRCh38.p13 chr20 2656441 2656441 + A A C Missense_Mutation SNP ENST00000329276.10 exon9 c.A1051C p.I351L exonic ENSG00000101361.17 . nonsynonymous SNV ENSG00000101361.17:ENST00000329276.10:exon9:c.A1051C:p.I351L 20p13 C3L-00097 . . . . . . . . . 10.20 T T B B D D L T N 0.861 T T D 0.470 0.753 0.897 0.391 D T D D D D 2.689 22.800 0.969 D D 0.053 2.705 0.228 3.323 1.000 0.672 0.672 0.702 0.711 . 5.910 4.810 9.065 1.312 0.756 1.000 1.000 1.000 769 Nop_domain . . . NOP56 200 0 141 40 0.220994475138122 TRUE TRUE +ENSG00000232838.4 . BCM GRCh38.p13 chr20 18137978 18137978 + T T C Missense_Mutation SNP ENST00000432901.4 exon1 c.T23C p.V8A exonic ENSG00000232838.4 . nonsynonymous SNV ENSG00000232838.4:ENST00000432901.4:exon1:c.T23C:p.V8A 20p11.23 C3L-00097 . . . . . . . . . 4.15 T T . . . D . . N 0.325 T T D 0.168 0.411 0.076 . D T T T T T 2.258 21.300 0.975 D N 0.011 2.551 0.032 2.471 1.000 0.442 0.522 0.522 0.373 . 5.050 3.950 2.402 1.066 0.568 1.000 0.972 0.891 783 . . . . PET117 44 0 28 5 0.151515151515152 TRUE TRUE +ENSG00000088325.16 . BCM GRCh38.p13 chr20 31797455 31797455 + C C T Missense_Mutation SNP ENST00000300403.11 exon16 c.C1885T p.P629S exonic ENSG00000088325.16 . nonsynonymous SNV ENSG00000088325.16:ENST00000300403.11:exon16:c.C1885T:p.P629S 20q11.21 C3L-00097 . . . . . . . . . 15.20 D D D D D D M T D 0.804 T T D 0.409 0.287 0.462 0.550 T T D D D D 3.818 25.900 0.999 D D 0.849 9.826 0.843 11.505 1.000 0.707 0.725 0.725 0.714 . 5.930 5.930 6.780 1.000 0.599 1.000 1.000 0.960 660 . . . . TPX2 119 0 125 8 0.0601503759398496 TRUE TRUE +ENSG00000101204.17 . BCM GRCh38.p13 chr20 63350626 63350626 + A A G Missense_Mutation SNP ENST00000370263.9 exon5 c.T785C p.V262A exonic ENSG00000101204.17 . nonsynonymous SNV ENSG00000101204.17:ENST00000370263.9:exon5:c.T785C:p.V262A 20q13.33 C3L-00097 . . . . . . . . . 19.20 D D P D D D M D D 0.841 D D D 0.868 0.518 0.964 1.348 D D D D D D 4.087 27.600 0.998 D D 0.688 6.955 0.676 7.320 1.000 0.646 0.588 0.645 0.613 . 5.150 5.150 7.258 1.307 0.751 1.000 1.000 0.995 . Neurotransmitter-gated_ion-channel_transmembrane_domain . . . CHRNA4 505 0 324 107 0.248259860788863 NA TRUE +ENSG00000154736.6 . BCM GRCh38.p13 chr21 26966124 26966124 + G G C Missense_Mutation SNP ENST00000284987.6 exon1 c.C268G p.L90V exonic ENSG00000154736.6 . nonsynonymous SNV ENSG00000154736.6:ENST00000284987.6:exon1:c.C268G:p.L90V 21q21.3 C3L-00097 . . . . . . . . . 5.20 T T P B D D L T N 0.187 T T T 0.096 0.435 0.203 0.696 T T T T D T 2.478 22.400 0.983 D D 0.030 2.618 0.095 2.713 1.000 0.487 0.574 0.607 0.555 . 4.320 3.440 3.001 1.085 0.676 1.000 1.000 1.000 740 Peptidase_M12B,_propeptide . . . ADAMTS5 137 0 95 79 0.454022988505747 TRUE TRUE +ENSG00000156273.16 . BCM GRCh38.p13 chr21 29342780 29342780 + G G - Frame_Shift_Del DEL ENST00000286800.8 exon5 c.2158delG p.I721Sfs*8 exonic ENSG00000156273.16 . frameshift deletion ENSG00000156273.16:ENST00000286800.8:exon5:c.2158delG:p.I721Sfs*8 21q21.3 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BACH1 83 0 38 38 0.5 TRUE TRUE +ENSG00000244025.5 . BCM GRCh38.p13 chr21 30491810 30491810 + A A T Missense_Mutation SNP ENST00000334063.6 exon1 c.T148A p.F50I exonic ENSG00000244025.5 . nonsynonymous SNV ENSG00000244025.5:ENST00000334063.6:exon1:c.T148A:p.F50I 21q22.11 C3L-00097 . . . . . . . . . 0.17 T T B B . N . T N 0.348 T T T 0.044 0.109 0.143 0.048 . T T T T T 0.434 5.795 0.821 N N -0.855 0.579 -1.012 0.474 0.000 0.487 0.574 0.574 0.564 . 0.685 0.685 0.227 0.264 -0.057 0.000 0.008 0.001 307 . . . . KRTAP19-3 418 1 465 94 0.168157423971377 NA TRUE +ENSG00000128191.16 . BCM GRCh38.p13 chr22 20090019 20090019 + A A G Missense_Mutation SNP ENST00000351989.8 exon5 c.A1067G p.K356R exonic ENSG00000128191.16 . nonsynonymous SNV ENSG00000128191.16:ENST00000351989.8:exon5:c.A1067G:p.K356R 22q11.21 C3L-00097 . . . . . . . . . 5.20 T T B B N D L T N 0.366 T T T 0.020 0.229 0.301 0.391 T T T T D D 3.720 25.500 0.980 D D -0.227 1.802 -0.032 2.252 1.000 0.707 0.725 0.702 0.714 . 5.310 4.280 5.762 1.312 0.691 1.000 1.000 1.000 536 . . . . DGCR8 110 0 105 32 0.233576642335766 TRUE TRUE +ENSG00000185666.15 . BCM GRCh38.p13 chr22 32980691 32980691 + A A C Missense_Mutation SNP ENST00000358763.7 exon3 c.T323G p.F108C exonic ENSG00000185666.15 . nonsynonymous SNV ENSG00000185666.15:ENST00000358763.7:exon3:c.T323G:p.F108C 22q12.3 C3L-00097 . . . . . . . . . 16.20 D D D D D D M T D 0.931 T T D 0.683 0.892 0.734 0.274 T D D D D D 4.019 27.100 0.944 D D 0.680 6.853 0.598 6.195 0.983 0.719 0.590 0.723 0.564 . 4.630 4.630 4.243 1.312 0.691 1.000 0.994 0.968 940 Synapsin,_pre-ATP-grasp_domain . . . SYN3 129 1 78 36 0.315789473684211 TRUE TRUE +ENSG00000184735.7 . BCM GRCh38.p13 chrX 23000331 23000331 + A A G Missense_Mutation SNP ENST00000327968.7 exon1 c.A274G p.K92E exonic ENSG00000184735.7 . nonsynonymous SNV ENSG00000184735.7:ENST00000327968.7:exon1:c.A274G:p.K92E Xp22.11 C3L-00097 . . . . . . . . . 0.19 T T B B N N N T N 0.039 T T T 0.059 0.462 0.043 0.127 T T T T T T -0.202 0.505 0.282 N . . . . . 0.900 . . . . . 4.300 2.490 1.350 -0.325 -0.917 0.307 0.004 0.001 974 K_Homology_domain,_type_1;K_Homology_domain . . . DDX53 69 0 17 21 0.552631578947368 TRUE TRUE +ENSG00000048991.16 . BCM GRCh38.p13 chr2 135616151 135616151 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000048991.16 ENST00000264160.8:exon4:c.172-1G>A . . 2q21.3 C3L-00097 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.782 33 0.994 D . 1.169 21.297 1.021 20.215 1.000 0.078 0.068 0.084 0.093 0.981 5.380 5.380 7.270 1.176 0.674 1.000 1.000 0.989 446 . . . . R3HDM1 123 0 96 27 0.219512195121951 TRUE TRUE +ENSG00000137776.17 . BCM GRCh38.p13 chr15 58893820 58893820 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000137776.17 ENST00000380516.7:exon12:c.1648+1G>T . . 15q22.1 C3L-00097 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.848 33 0.995 D . 1.118 18.337 0.962 16.712 1.000 0.295 0.304 0.232 0.118 0.974 5.190 5.190 5.405 1.026 0.544 1.000 0.994 0.975 477 . . . . SLTM 84 1 66 5 0.0704225352112676 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53214688 53214688 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000126012.12 ENST00000375401.8:exon8:c.1122+1G>T . . Xp11.22 C3L-00097 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.059 35 0.989 D . . . . . 1.000 . . . . 0.843 5.720 4.860 7.866 1.022 0.596 1.000 1.000 0.999 75 . . . . KDM5C 96 1 54 32 0.372093023255814 TRUE TRUE +ENSG00000127124.16 . BCM GRCh38.p13 chr1 41580793 41580793 + G G A Silent SNP ENST00000372583.6 exon4 c.C4005T p.Y1335Y exonic ENSG00000127124.16 . synonymous SNV ENSG00000127124.16:ENST00000372583.6:exon4:c.C4005T:p.Y1335Y 1p34.2 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIVEP3 24 0 14 6 0.3 TRUE TRUE +ENSG00000243943.10 . BCM GRCh38.p13 chr2 27607946 27607946 + T T C Silent SNP ENST00000355467.6 exon10 c.T1038C p.A346A exonic ENSG00000243943.10 . synonymous SNV ENSG00000243943.10:ENST00000355467.6:exon10:c.T1038C:p.A346A 2p23.3 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF512 120 0 105 28 0.210526315789474 TRUE TRUE +ENSG00000164023.14 . BCM GRCh38.p13 chr4 107908668 107908668 + G G C Silent SNP ENST00000394684.8 exon6 c.G831C p.V277V exonic ENSG00000164023.14 . synonymous SNV ENSG00000164023.14:ENST00000394684.8:exon6:c.G831C:p.V277V 4q25 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SGMS2 146 0 108 25 0.18796992481203 TRUE TRUE +ENSG00000188573.8 . BCM GRCh38.p13 chr5 168529912 168529912 + G G T Silent SNP ENST00000338333.5 exon1 c.G408T p.T136T exonic ENSG00000188573.8 . synonymous SNV ENSG00000188573.8:ENST00000338333.5:exon1:c.G408T:p.T136T 5q34 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBLL1 71 0 51 3 0.0555555555555556 TRUE NA +ENSG00000187258.14 . BCM GRCh38.p13 chr7 34778478 34778478 + G G C Silent SNP ENST00000360581.6 exon3 c.G297C p.L99L exonic ENSG00000187258.14 . synonymous SNV ENSG00000187258.14:ENST00000360581.6:exon3:c.G297C:p.L99L 7p14.3 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPSR1 104 0 51 46 0.474226804123711 TRUE TRUE +ENSG00000189233.12 . BCM GRCh38.p13 chr8 28023320 28023320 + C C A Silent SNP ENST00000413272.7 exon19 c.G2388T p.L796L exonic ENSG00000189233.12 . synonymous SNV ENSG00000189233.12:ENST00000413272.7:exon19:c.G2388T:p.L796L 8p21.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUGGC 98 0 83 25 0.231481481481481 TRUE TRUE +ENSG00000238227.8 . BCM GRCh38.p13 chr9 136116520 136116520 + C C T Silent SNP ENST00000418388.6 exon2 c.G381A p.G127G exonic ENSG00000238227.8 . synonymous SNV ENSG00000238227.8:ENST00000418388.6:exon2:c.G381A:p.G127G 9q34.3 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM250 88 0 79 25 0.240384615384615 TRUE TRUE +ENSG00000127191.18 . BCM GRCh38.p13 chr9 136908147 136908147 + G G A Silent SNP ENST00000247668.7 exon5 c.G444A p.K148K exonic ENSG00000127191.18 . synonymous SNV ENSG00000127191.18:ENST00000247668.7:exon5:c.G444A:p.K148K 9q34.3 C3L-00097 8.406e-06 0 0 0 0 1.535e-05 0 0 rs750814825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAF2 158 1 98 36 0.26865671641791 TRUE NA +ENSG00000149115.14 . BCM GRCh38.p13 chr11 57309207 57309207 + C C T Silent SNP ENST00000358252.8 exon6 c.G3504A p.R1168R exonic ENSG00000149115.14 . synonymous SNV ENSG00000149115.14:ENST00000358252.8:exon6:c.G3504A:p.R1168R 11q12.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100836321;OCCURENCE=1(upper_aerodigestive_tract) TNKS1BP1 213 0 130 43 0.248554913294798 TRUE TRUE +ENSG00000111358.14 . BCM GRCh38.p13 chr12 123660166 123660166 + G G A Silent SNP ENST00000543341.7 exon13 c.G858A p.E286E exonic ENSG00000111358.14 . synonymous SNV ENSG00000111358.14:ENST00000543341.7:exon13:c.G858A:p.E286E 12q24.31 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99967575;OCCURENCE=1(endometrium) GTF2H3 91 0 61 26 0.298850574712644 TRUE TRUE +ENSG00000188266.14 . BCM GRCh38.p13 chr15 78513301 78513301 + T T C Silent SNP ENST00000388988.9 exon2 c.T213C p.A71A exonic ENSG00000188266.14 . synonymous SNV ENSG00000188266.14:ENST00000388988.9:exon2:c.T213C:p.A71A 15q25.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64762726;OCCURENCE=1(endometrium) HYKK 368 2 268 98 0.26775956284153 TRUE TRUE +ENSG00000081138.14 . BCM GRCh38.p13 chr18 65824825 65824825 + A A T Silent SNP ENST00000397968.4 exon6 c.A975T p.I325I exonic ENSG00000081138.14 . synonymous SNV ENSG00000081138.14:ENST00000397968.4:exon6:c.A975T:p.I325I 18q22.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH7 79 0 51 16 0.238805970149254 TRUE TRUE +ENSG00000141759.15 . BCM GRCh38.p13 chr18 79973766 79973766 + G G T Silent SNP ENST00000269601.10 exon3 c.C348A p.I116I exonic ENSG00000141759.15 . synonymous SNV ENSG00000141759.15:ENST00000269601.10:exon3:c.C348A:p.I116I 18q23 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TXNL4A 139 0 85 36 0.297520661157025 TRUE TRUE +ENSG00000130518.17 . BCM GRCh38.p13 chr19 18265683 18265683 + T T G Silent SNP ENST00000600328.7 exon3 c.A1857C p.A619A exonic ENSG00000130518.17 . synonymous SNV ENSG00000130518.17:ENST00000600328.7:exon3:c.A1857C:p.A619A 19p13.11 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IQCN 186 1 129 53 0.291208791208791 TRUE TRUE +ENSG00000205560.13 . BCM GRCh38.p13 chr22 50572876 50572876 + T T G Silent SNP ENST00000312108.12 exon11 c.A1351C p.R451R exonic ENSG00000205560.13 . synonymous SNV ENSG00000205560.13:ENST00000312108.12:exon11:c.A1351C:p.R451R 22q13.33 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPT1B 90 0 68 25 0.268817204301075 TRUE TRUE +ENSG00000047644.19 . BCM GRCh38.p13 chrX 10067483 10067483 + C C T Silent SNP ENST00000380861.9 exon3 c.C213T p.Y71Y exonic ENSG00000047644.19 . synonymous SNV ENSG00000047644.19:ENST00000380861.9:exon3:c.C213T:p.Y71Y Xp22.2 C3L-00097 9.877e-05 0 0.0005 0 0 9.348e-05 0 0 rs751017696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WWC3 71 0 24 39 0.619047619047619 TRUE NA +ENSG00000188158.15 . BCM GRCh38.p13 chrX 17376306 17376306 + T T C Silent SNP ENST00000380060.7 exon1 c.T549C p.P183P exonic ENSG00000188158.15 . synonymous SNV ENSG00000188158.15:ENST00000380060.7:exon1:c.T549C:p.P183P Xp22.2 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NHS 81 0 32 28 0.466666666666667 TRUE TRUE +ENSG00000163395.17 . BCM GRCh38.p13 chr1 201208585 201208599 + CCTATGGAGAAAGGT CCTATGGAGAAAGGT - Intron DEL NA NA NA NA intronic ENSG00000163395.17 . . . 1q32.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFN1 50 0 33 17 0.34 TRUE TRUE +ENSG00000228968.1 . BCM GRCh38.p13 chr2 104379450 104379450 + T T A IGR SNP NA NA NA NA intergenic ENSG00000228968.1;ENSG00000233955.1 dist=232221;dist=15552 . . 2q12.1 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC096554.1 123 0 74 30 0.288461538461538 TRUE NA +ENSG00000113389.16 . BCM GRCh38.p13 chr5 32710712 32710712 + C C G 5'Flank SNP NA NA NA NA upstream ENSG00000113389.16 dist=609 . . 5p13.3 C3L-00097 . . . . . . . . . 3.15 D T . . . N . D N 0.219 T T D 0.095 0.254 0.283 . . T T T T T 0.334 4.684 0.938 N N -1.174 0.246 -1.203 0.280 1.000 0.437 0.492 0.608 0.604 . 3.470 1.600 -0.480 -0.232 -0.817 0.000 0.026 0.023 854 . . . ID=COSV54084831;OCCURENCE=3(oesophagus) NPR3 70 0 63 5 0.0735294117647059 TRUE NA +ENSG00000079387.14 . BCM GRCh38.p13 chr12 48089259 48089259 + C C A Intron SNP NA NA NA NA intronic ENSG00000079387.14 . . . 12q13.11 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SENP1 104 1 62 11 0.150684931506849 TRUE NA +ENSG00000128245.15 . BCM GRCh38.p13 chr22 31950308 31950308 + G G C Intron SNP NA NA NA NA intronic ENSG00000128245.15;ENSG00000285404.1 . . . 22q12.3 C3L-00097 . . . . . . . . . 3.15 D D . . . N . T D 0.298 T T T 0.060 0.699 0.659 . . T T T T T 0.774 9.135 0.975 N N -0.394 1.397 -0.518 1.173 1.000 0.251 0.553 0.487 0.509 . 3.760 2.660 1.033 0.984 0.651 0.004 0.272 0.676 217 . . . . YWHAH 101 0 73 30 0.29126213592233 TRUE TRUE +ENSG00000100413.17 . BCM GRCh38.p13 chr22 41540568 41540568 + - NA TG Intron INS NA NA NA NA intronic ENSG00000100413.17 . . . 22q13.2 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POLR3H NA NA NA NA NA NA NA +ENSG00000176771.17 . BCM GRCh38.p13 chr2 132782309 132782310 + TT TT CA Unknown MNP ENST00000409261.6 exon14 c.4501_4502delinsTG p.K1501W exonic ENSG00000176771.17 . nonframeshift substitution ENSG00000176771.17:ENST00000409261.6:exon14:c.4501_4502delinsTG:p.K1501W 2q21.2 C3L-00097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCKAP5 192 0 139 46 0.248648648648649 TRUE TRUE +ENSG00000049089.15 . BCM GRCh38.p13 chr1 40301229 40301229 + A A G Missense_Mutation SNP ENST00000372748.8 exon32 c.T2023C p.Y675H exonic ENSG00000049089.15 . nonsynonymous SNV ENSG00000049089.15:ENST00000372748.8:exon32:c.T2023C:p.Y675H 1p34.2 C3L-00103 . . . . . . . . . 15.20 D T D D D D L D N 0.409 D D D 0.542 0.181 0.960 1.047 T T D D D D 3.650 25.200 0.998 D D 0.518 5.179 0.510 5.253 0.978 0.672 0.702 0.645 0.542 . 5.450 4.310 8.696 1.298 0.740 1.000 1.000 0.999 443 . . . . COL9A2 172 0 134 46 0.255555555555556 TRUE TRUE +ENSG00000162391.12 . BCM GRCh38.p13 chr1 54609876 54609876 + T T C Missense_Mutation SNP ENST00000302250.7 exon8 c.A1150G p.I384V exonic ENSG00000162391.12 . nonsynonymous SNV ENSG00000162391.12:ENST00000302250.7:exon8:c.A1150G:p.I384V 1p32.3 C3L-00103 . . . . . . . . . 0.20 T T B B N N L T N 0.056 T T T 0.008 0.494 0.030 0.064 T T T T T T -0.930 0.012 0.466 N N -1.264 0.185 -1.354 0.176 0.994 0.653 0.588 0.676 0.655 . 4.170 -2.410 -2.715 0.202 -0.120 0.000 0.053 0.008 783 . . . . FAM151A 137 0 105 50 0.32258064516129 TRUE TRUE +ENSG00000162989.5 . BCM GRCh38.p13 chr2 154699233 154699233 + A A - Frame_Shift_Del NA ENST00000295101.3 exon1 c.458delA p.D153Afs*49 exonic ENSG00000162989.5 . frameshift deletion ENSG00000162989.5:ENST00000295101.3:exon1:c.458delA:p.D153Afs*49 2q24.1 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNJ3 170 0 163 80 0.329218106995885 TRUE TRUE +ENSG00000168918.14 . BCM GRCh38.p13 chr2 233163767 233163767 + C C T Missense_Mutation SNP ENST00000445964.6 exon12 c.C1301T p.T434M exonic ENSG00000168918.14 . nonsynonymous SNV ENSG00000168918.14:ENST00000445964.6:exon12:c.C1301T:p.T434M 2q37.1 C3L-00103 . . . . . . . . . 18.18 D D D D D D . D D 0.826 D D D 0.848 0.435 0.892 1.571 D D D D D . 3.970 26.800 0.999 D D 0.737 7.664 0.722 8.176 1.000 0.706 0.702 0.710 0.711 . 5.080 5.080 7.523 1.026 0.599 1.000 0.991 0.962 807 Endonuclease/exonuclease/phosphatase;Inositol_polyphosphate-related_phosphatase . . ID=COSV64039767;OCCURENCE=1(large_intestine) INPP5D 279 0 237 102 0.300884955752212 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142101 10142101 + T T C Missense_Mutation SNP ENST00000256474.3 exon1 c.T254C p.L85P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T254C:p.L85P 3p25.3 C3L-00103 . . . . . . . . rs5030828 13.20 T T D D N D L D N 0.854 D D D 0.712 0.870 0.999 1.370 D D D D D T 3.311 24.200 0.997 D N 0.253 3.546 0.224 3.304 1.000 0.442 0.522 0.522 0.373 . 5.430 2.830 0.790 0.971 0.576 1.000 0.812 0.457 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56542730;OCCURENCE=8(kidney) VHL 399 0 136 79 0.367441860465116 TRUE TRUE +ENSG00000169855.20 . BCM GRCh38.p13 chr3 78714437 78714437 + C C A Missense_Mutation SNP ENST00000464233.6 exon8 c.G1005T p.M335I exonic ENSG00000169855.20 . nonsynonymous SNV ENSG00000169855.20:ENST00000464233.6:exon8:c.G1005T:p.M335I 3p12.3 C3L-00103 . . . . . . . . . 12.20 T T D D D D N T N 0.743 T T D 0.299 0.358 0.806 0.647 D T D D D D 3.185 23.800 0.995 D D 0.461 4.744 0.559 5.742 1.000 0.706 0.667 0.710 0.668 . 5.440 5.440 7.568 1.026 0.599 1.000 1.000 0.967 544 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . ROBO1 109 0 49 26 0.346666666666667 TRUE TRUE +ENSG00000137628.17 . BCM GRCh38.p13 chr4 168287068 168287068 + T T C Missense_Mutation SNP ENST00000393743.8 exon10 c.A1319G p.K440R exonic ENSG00000137628.17 . nonsynonymous SNV ENSG00000137628.17:ENST00000393743.8:exon10:c.A1319G:p.K440R 4q32.3 C3L-00103 . . . . . . . . . 1.20 T T B B N N M T N 0.102 T T T 0.047 0.266 0.229 0.127 T T T T T T 1.303 14.410 0.973 N N -0.708 0.799 -0.737 0.847 0.995 0.651 0.588 0.574 0.684 . 4.700 2.210 2.252 -0.258 0.490 0.232 0.004 0.193 977 . . . . DDX60 100 0 57 30 0.344827586206897 TRUE TRUE +ENSG00000164256.11 . BCM GRCh38.p13 chr5 23509973 23509973 + C C A Missense_Mutation SNP ENST00000296682.4 exon4 c.C247A p.L83I exonic ENSG00000164256.11 . nonsynonymous SNV ENSG00000164256.11:ENST00000296682.4:exon4:c.C247A:p.L83I 5p14.2 C3L-00103 . . . . . . . . . 0.19 T T P B . N N T N 0.206 T T T 0.103 0.470 0.222 0.133 T T T T T T 0.339 4.735 0.678 N N -1.089 0.316 -1.244 0.248 0.000 0.487 0.574 0.547 0.564 . 3.790 -4.930 -0.437 -0.118 -0.315 0.000 0.250 0.904 986 Krueppel-associated_box-related;Krueppel-associated_box . . . PRDM9 310 0 331 122 0.269315673289183 NA TRUE +ENSG00000170927.15 . BCM GRCh38.p13 chr6 52010456 52010456 + - NA G Nonsense_Mutation SNP ENST00000371117.8 exon35 c.5603dupC p.K1869* exonic ENSG00000170927.15 . stopgain ENSG00000170927.15:ENST00000371117.8:exon35:c.5603dupC:p.K1869* 6p12.2 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKHD1 NA NA NA NA NA NA NA +ENSG00000188994.13 . BCM GRCh38.p13 chr6 87259902 87259902 + - NA A Frame_Shift_Ins NA ENST00000369577.8 exon8 c.6274dupA p.R2094Tfs*10 exonic ENSG00000188994.13 . frameshift insertion ENSG00000188994.13:ENST00000369577.8:exon8:c.6274dupA:p.R2094Tfs*10 6q14.3 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF292 NA NA NA NA NA NA NA +ENSG00000155660.11 . BCM GRCh38.p13 chr7 149005180 149005180 + A A C Missense_Mutation SNP ENST00000652332.1 exon9 c.T1483G p.S495A exonic ENSG00000155660.11 . nonsynonymous SNV ENSG00000155660.11:ENST00000652332.1:exon9:c.T1483G:p.S495A 7q36.1 C3L-00103 . . . . . . . . . 0.20 T T B B N N N T N 0.206 T T T 0.087 0.266 0.161 0.070 T T T T T T 0.199 3.116 0.235 N N -1.379 0.126 -1.419 0.142 0.997 0.672 0.702 0.702 0.711 . 5.570 -5.820 0.239 0.271 0.756 0.024 0.076 0.053 884 . . . . PDIA4 176 1 183 58 0.240663900414938 TRUE TRUE +ENSG00000183117.19 . BCM GRCh38.p13 chr8 3087194 3087194 + G G C Missense_Mutation SNP ENST00000635120.2 exon49 c.C7377G p.C2459W exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon49:c.C7377G:p.C2459W 8p23.2 C3L-00103 . . . . . . . . . 15.19 D D D D D D . D D 0.972 T T D 0.904 0.949 0.948 . T T D D D D 3.644 25.200 0.993 D D 0.101 2.891 0.024 2.444 0.000 0.487 0.574 0.574 0.564 . 5.570 2.790 0.549 0.203 0.676 0.998 0.995 0.700 905 Sushi/SCR/CCP_domain . . . CSMD1 186 0 178 56 0.239316239316239 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112550818 112550818 + C C A Missense_Mutation SNP ENST00000297405.10 exon27 c.G4417T p.D1473Y exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon27:c.G4417T:p.D1473Y 8q23.3 C3L-00103 . . . . . . . . . 18.20 D D D D D D M T D 0.902 D D D 0.782 0.723 0.800 0.748 D T D D D D 3.881 26.200 0.995 D D 0.952 12.463 0.817 10.636 1.000 0.487 0.574 0.574 0.564 . 4.360 4.360 7.905 1.008 0.549 1.000 1.000 0.937 855 CUB_domain . . . CSMD3 299 0 244 97 0.284457478005865 TRUE TRUE +ENSG00000107140.16 . BCM GRCh38.p13 chr9 35609705 35609705 + C C A Missense_Mutation SNP ENST00000336395.6 exon10 c.C1844A p.P615H exonic ENSG00000107140.16 . nonsynonymous SNV ENSG00000107140.16:ENST00000336395.6:exon10:c.C1844A:p.P615H 9p13.3 C3L-00103 . . . . . . . . . 7.20 D D P P N D N T N 0.495 T T D 0.369 0.162 0.263 0.475 T T T T D T 3.413 24.400 0.992 D D 0.335 3.966 0.413 4.455 1.000 0.706 0.702 0.710 0.636 . 5.120 5.120 4.042 1.026 0.549 1.000 1.000 0.997 234 . . . . TESK1 62 0 52 30 0.365853658536585 TRUE TRUE +ENSG00000152463.15 . BCM GRCh38.p13 chr10 15073134 15073134 + G G A Missense_Mutation SNP ENST00000378228.8 exon8 c.G703A p.G235R exonic ENSG00000152463.15 . nonsynonymous SNV ENSG00000152463.15:ENST00000378228.8:exon8:c.G703A:p.G235R 10p13 C3L-00103 8.245e-06 0 0 0 0 0 0 6.06e-05 rs771190215 16.19 D D D D D D H . D 0.914 D D D 0.692 0.987 0.168 0.050 T T D D D T 3.504 24.700 0.999 D D 0.819 9.172 0.692 7.605 0.933 0.554 0.588 0.547 0.568 . 5.350 5.350 5.609 1.124 0.640 1.000 0.409 0.146 889 Thioesterase . . . OLAH 176 0 128 36 0.219512195121951 TRUE NA +ENSG00000119596.18 . BCM GRCh38.p13 chr14 74812705 74812705 + C C T Nonsense_Mutation SNP ENST00000325680.12 exon11 c.C5425T p.R1809X exonic ENSG00000119596.18 . stopgain ENSG00000119596.18:ENST00000325680.12:exon11:c.C5425T:p.R1809X 14q24.3 C3L-00103 8.553e-06 0 0 0 0 1.541e-05 0 0 rs748776364 5.6 . . . . D A . . . 0.352 . . . . . . . . . D D . . 8.077 41 0.998 D N 0.746 7.813 0.613 6.387 0.794 0.722 0.725 0.725 0.735 . 5.890 3.920 3.024 1.017 0.599 1.000 1.000 0.995 721 . . . . YLPM1 181 0 95 47 0.330985915492958 TRUE NA +ENSG00000066735.14 . BCM GRCh38.p13 chr14 104172593 104172593 + A A G Missense_Mutation SNP ENST00000423312.6 exon7 c.A1345G p.T449A exonic ENSG00000066735.14 . nonsynonymous SNV ENSG00000066735.14:ENST00000423312.6:exon7:c.A1345G:p.T449A 14q32.33 C3L-00103 . . . . . . . . . 6.19 T T P B . D N T D 0.160 T T D 0.249 0.615 0.957 0.105 T D T T D T 1.776 17.560 0.996 D N -0.191 1.901 -0.161 1.882 1.000 0.581 0.547 0.269 0.605 . 4.250 1.860 2.831 1.207 0.756 1.000 0.920 0.383 553 Kinesin_motor_domain . . . KIF26A 106 0 48 18 0.272727272727273 TRUE TRUE +ENSG00000138594.14 . BCM GRCh38.p13 chr15 51869326 51869326 + A A G Missense_Mutation SNP ENST00000308580.12 exon3 c.A236G p.E79G exonic ENSG00000138594.14 . nonsynonymous SNV ENSG00000138594.14:ENST00000308580.12:exon3:c.A236G:p.E79G 15q21.2 C3L-00103 . . . . . . . . . 8.20 D T P P N D M T D 0.501 T T T 0.257 0.720 0.117 0.156 T T T T D D 4.161 28.300 0.999 D D 0.602 5.939 0.604 6.280 1.000 0.742 0.725 0.710 0.662 . 5.240 5.240 7.273 1.312 0.750 1.000 1.000 0.987 197 . . . . TMOD3 198 0 151 59 0.280952380952381 TRUE TRUE +ENSG00000128482.16 . BCM GRCh38.p13 chr17 19415943 19415943 + G G A Missense_Mutation SNP ENST00000461366.2 exon14 c.G1664A p.G555E exonic ENSG00000128482.16 . nonsynonymous SNV ENSG00000128482.16:ENST00000461366.2:exon14:c.G1664A:p.G555E 17p11.2 C3L-00103 1.191e-05 0 0 0 0 2.108e-05 0 0 rs746780377 8.14 D D . . . D L T N 0.731 . . D . . 0.937 0.412 D T D D . T 3.651 25.200 0.990 D N . . . . 0.841 0.578 0.590 0.608 0.613 . 4.490 4.490 2.393 1.083 0.676 0.993 0.942 0.963 749 . . . . RNF112 60 1 59 28 0.32183908045977 TRUE NA +ENSG00000120071.14 . BCM GRCh38.p13 chr17 46170910 46170910 + - NA A Nonsense_Mutation SNP ENST00000432791.6 exon2 c.1233dupT p.D412* exonic ENSG00000120071.14 . stopgain ENSG00000120071.14:ENST00000432791.6:exon2:c.1233dupT:p.D412* 17q21.31 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANSL1 NA NA NA NA NA NA NA +ENSG00000150477.15 . BCM GRCh38.p13 chr18 37222139 37222139 + T T A Missense_Mutation SNP ENST00000280020.10 exon10 c.T1646A p.L549Q exonic ENSG00000150477.15 . nonsynonymous SNV ENSG00000150477.15:ENST00000280020.10:exon10:c.T1646A:p.L549Q 18q12.2 C3L-00103 . . . . . . . . . 0.20 T T B B N N N T N 0.038 T T T 0.018 0.205 0.067 0.047 T T T T T T -0.515 0.111 0.185 N N -1.788 0.025 -1.812 0.032 0.249 0.638 0.588 0.618 0.668 . 5.930 -7.590 -0.888 -2.294 -1.107 0.000 0.000 0.003 807 . . . . KIAA1328 346 0 319 125 0.281531531531532 TRUE TRUE +ENSG00000187556.7 . BCM GRCh38.p13 chr19 13877522 13877522 + T T G Missense_Mutation SNP ENST00000397555.3 exon2 c.T217G p.S73A exonic ENSG00000187556.7 . nonsynonymous SNV ENSG00000187556.7:ENST00000397555.3:exon2:c.T217G:p.S73A 19p13.12 C3L-00103 . . . . . . . . . 10.19 D D D P D D . T D 0.287 T T D 0.210 0.701 0.676 0.956 T D T T D T 3.561 24.900 0.996 D N 0.368 4.154 0.332 3.907 0.996 0.598 0.588 0.596 0.613 . 4.870 4.870 1.086 1.138 0.665 0.141 0.999 0.993 917 Zinc_finger,_nanos-type . . . NANOS3 153 0 143 50 0.259067357512953 TRUE TRUE +ENSG00000124203.6 . BCM GRCh38.p13 chr20 59191678 59191678 + C C A Missense_Mutation SNP ENST00000637017.1 exon4 c.C659A p.A220D exonic ENSG00000124203.6 . nonsynonymous SNV ENSG00000124203.6:ENST00000637017.1:exon4:c.C659A:p.A220D 20q13.32 C3L-00103 . . . . . . . . . 5.19 D T D P . N M T D 0.391 T T T 0.040 0.339 0.194 0.943 T T T T D T 2.866 23.100 0.991 N N -0.476 1.224 -0.595 1.054 0.000 0.554 0.588 0.578 0.613 . 4.890 1.370 1.595 1.026 0.599 0.418 0.405 0.200 993 . . . . ZNF831 15 0 17 9 0.346153846153846 TRUE TRUE +ENSG00000130294.16 . BCM GRCh38.p13 chr2 240740137 240740137 + G G A Silent SNP ENST00000649096.1 exon35 c.C3519T p.I1173I exonic ENSG00000130294.16 . synonymous SNV ENSG00000130294.16:ENST00000649096.1:exon35:c.C3519T:p.I1173I 2q37.3 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF1A 113 0 72 41 0.36283185840708 TRUE TRUE +ENSG00000187821.8 . BCM GRCh38.p13 chr4 185020598 185020598 + C C T Silent SNP ENST00000515777.5 exon4 c.C555T p.S185S exonic ENSG00000187821.8 . synonymous SNV ENSG00000187821.8:ENST00000515777.5:exon4:c.C555T:p.S185S 4q35.1 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HELT 116 0 69 57 0.452380952380952 TRUE TRUE +ENSG00000204248.11 . BCM GRCh38.p13 chr6 33181144 33181144 + C C T Silent SNP ENST00000374708.8 exon7 c.G888A p.K296K exonic ENSG00000204248.11 . synonymous SNV ENSG00000204248.11:ENST00000374708.8:exon7:c.G888A:p.K296K 6p21.32 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL11A2 412 0 389 163 0.295289855072464 TRUE TRUE +ENSG00000106003.13 . BCM GRCh38.p13 chr7 2525468 2525468 + G G A Silent SNP ENST00000222725.10 exon4 c.G636A p.R212R exonic ENSG00000106003.13 . synonymous SNV ENSG00000106003.13:ENST00000222725.10:exon4:c.G636A:p.R212R 7p22.3 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LFNG 267 1 199 85 0.299295774647887 TRUE TRUE +ENSG00000175445.17 . BCM GRCh38.p13 chr8 19954247 19954247 + C C A Silent SNP ENST00000650287.1 exon5 c.C669A p.I223I exonic ENSG00000175445.17 . synonymous SNV ENSG00000175445.17:ENST00000650287.1:exon5:c.C669A:p.I223I 8p21.3 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LPL 288 0 348 59 0.144963144963145 TRUE TRUE +ENSG00000168481.9 . BCM GRCh38.p13 chr8 22148796 22148796 + G G T Silent SNP ENST00000306317.7 exon8 c.C1011A p.I337I exonic ENSG00000168481.9 . synonymous SNV ENSG00000168481.9:ENST00000306317.7:exon8:c.C1011A:p.I337I 8p21.3 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LGI3 230 0 183 65 0.262096774193548 TRUE TRUE +ENSG00000140406.4 . BCM GRCh38.p13 chr15 81003174 81003174 + C C T Silent SNP ENST00000267984.4 exon1 c.C903T p.L301L exonic ENSG00000140406.4 . synonymous SNV ENSG00000140406.4:ENST00000267984.4:exon1:c.C903T:p.L301L 15q25.1 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLNRD1 87 0 66 22 0.25 TRUE NA +ENSG00000162104.10 . BCM GRCh38.p13 chr16 4115050 4115050 + G G A Silent SNP ENST00000294016.8 exon2 c.C393T p.S131S exonic ENSG00000162104.10 . synonymous SNV ENSG00000162104.10:ENST00000294016.8:exon2:c.C393T:p.S131S 16p13.3 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADCY9 167 0 136 52 0.276595744680851 TRUE TRUE +ENSG00000011422.12 . BCM GRCh38.p13 chr19 43665401 43665401 + C C T Silent SNP ENST00000340093.8 exon3 c.G225A p.R75R exonic ENSG00000011422.12 . synonymous SNV ENSG00000011422.12:ENST00000340093.8:exon3:c.G225A:p.R75R 19q13.31 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLAUR 182 0 171 50 0.226244343891403 TRUE TRUE +ENSG00000102001.13 . BCM GRCh38.p13 chrX 49206729 49206729 + T T A Silent SNP ENST00000376265.2 exon45 c.A5391T p.A1797A exonic ENSG00000102001.13 . synonymous SNV ENSG00000102001.13:ENST00000376265.2:exon45:c.A5391T:p.A1797A Xp11.23 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1F 22 0 11 11 0.5 TRUE TRUE +ENSG00000135999.12 . BCM GRCh38.p13 chr2 148691833 148691833 + T T C Intron SNP NA NA NA NA intronic ENSG00000135999.12 . . . 2q23.1 C3L-00103 . . . . . . . . . 1.11 D . . . . N . . N . T T . 0.085 0.187 0.068 . . . T T T T 0.863 10.040 0.514 N N -0.555 1.071 -0.736 0.848 0.999 0.615 0.602 0.602 0.655 . 3.200 0.756 0.032 0.933 0.646 0.110 0.294 0.557 366 . . . . EPC2 96 0 81 28 0.256880733944954 TRUE TRUE +ENSG00000136244.12 . BCM GRCh38.p13 chr7 22729732 22729732 + A A T Intron SNP NA NA NA NA intronic ENSG00000136244.12 . . . 7p15.3 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL6 109 0 82 51 0.383458646616541 TRUE NA +ENSG00000165899.11 . BCM GRCh38.p13 chr12 80424529 80424529 + T T C IGR SNP NA NA NA NA intergenic ENSG00000165899.11;ENSG00000139304.16 dist=43650;dist=19706 . . 12q21.31 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OTOGL 111 0 86 22 0.203703703703704 TRUE NA +ENSG00000260621.1 . BCM GRCh38.p13 chr16 56409422 56409422 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000260621.1;ENSG00000159461.15 ENST00000290649.10:exon3:c.513+2T>C . . 16q13 C3L-00103 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.438 34 0.995 D . 1.165 20.964 1.016 19.845 1.000 0.295 0.304 0.175 0.221 0.981 5.410 5.410 9.153 1.312 0.756 1.000 1.000 0.991 461 . . . . AC092140.1 77 0 68 25 0.268817204301075 TRUE TRUE +ENSG00000175745.14 . BCM GRCh38.p13 chr5 93593621 93593622 + GC GC TT Unknown MNP ENST00000327111.8 exon3 c.1051_1052delinsTT p.A351L exonic ENSG00000175745.14 . nonframeshift substitution ENSG00000175745.14:ENST00000327111.8:exon3:c.1051_1052delinsTT:p.A351L 5q15 C3L-00103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NR2F1 238 0 168 73 0.302904564315353 TRUE TRUE +ENSG00000198793.13 . BCM GRCh38.p13 chr1 11124502 11124502 + G G A Missense_Mutation SNP ENST00000361445.9 exon47 c.C6658T p.L2220F exonic ENSG00000198793.13 . nonsynonymous SNV ENSG00000198793.13:ENST00000361445.9:exon47:c.C6658T:p.L2220F 1p36.22 C3L-00183 . . . . . . . . . 20.20 D D D D D D M D D 0.865 D D D 0.896 0.627 0.967 2.597 D D D D D D 4.126 28.000 0.999 D D 0.930 11.859 0.889 13.279 1.000 0.707 0.725 0.725 0.714 . 5.800 5.800 6.447 1.172 0.671 1.000 1.000 0.998 383 Phosphatidylinositol_3-/4-kinase,_catalytic_domain . . ID=COSV63869468;OCCURENCE=1(large_intestine),2(kidney) MTOR 88 0 98 24 0.19672131147541 TRUE TRUE +ENSG00000162600.12 . BCM GRCh38.p13 chr1 58538820 58538825 + TCTGTA TCTGTA - In_Frame_Del DEL ENST00000371226.8 exon2 c.470_475del p.V157_K159delinsE exonic ENSG00000162600.12 . nonframeshift deletion ENSG00000162600.12:ENST00000371226.8:exon2:c.470_475del:p.V157_K159delinsE 1p32.1 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OMA1 65 0 68 10 0.128205128205128 TRUE TRUE +ENSG00000058085.15 . BCM GRCh38.p13 chr1 183226811 183226811 + C C G Missense_Mutation SNP ENST00000264144.5 exon9 c.C1180G p.Q394E exonic ENSG00000058085.15 . nonsynonymous SNV ENSG00000058085.15:ENST00000264144.5:exon9:c.C1180G:p.Q394E 1q25.3 C3L-00183 . . . . . . . . . 3.20 T T B B N D N T N 0.206 T T T 0.090 0.614 0.574 0.130 T T T T D T 1.554 16.080 0.821 D N -0.390 1.406 -0.117 2.000 1.000 0.706 0.590 0.688 0.613 . 5.390 4.420 4.205 1.018 0.589 1.000 1.000 0.999 497 Laminin_EGF_domain . . . LAMC2 290 0 310 68 0.17989417989418 TRUE TRUE +ENSG00000092978.11 . BCM GRCh38.p13 chr1 217619967 217619967 + T T C Missense_Mutation SNP ENST00000366935.8 exon2 c.A589G p.R197G exonic ENSG00000092978.11 . nonsynonymous SNV ENSG00000092978.11:ENST00000366935.8:exon2:c.A589G:p.R197G 1q41 C3L-00183 . . . . . . . . . 0.20 T T B B N N L T N 0.161 T T T 0.023 0.233 0.391 0.471 T T T T T T 1.395 15.050 0.960 N N -0.689 0.832 -0.645 0.980 0.969 0.707 0.654 0.725 0.636 . 5.940 1.800 0.506 1.049 0.609 0.014 0.987 0.991 866 . . . . GPATCH2 94 0 88 28 0.241379310344828 TRUE TRUE +ENSG00000143674.11 . BCM GRCh38.p13 chr1 233382434 233382434 + G G A Missense_Mutation SNP ENST00000366624.8 exon10 c.G2834A p.R945H exonic ENSG00000143674.11 . nonsynonymous SNV ENSG00000143674.11:ENST00000366624.8:exon10:c.G2834A:p.R945H 1q42.2 C3L-00183 4.948e-05 0 8.642e-05 0.0001 0 4.5e-05 0 6.06e-05 rs747180331 4.19 D D P B N N . T N 0.111 T T D 0.057 0.305 0.303 0.137 T T T T T T 1.859 18.170 0.913 D N -0.569 1.045 -0.580 1.077 0.169 0.707 0.563 0.725 0.621 . 4.770 2.900 2.424 0.129 -0.172 0.962 0.001 0.002 880 . . . ID=COSV64041075;OCCURENCE=1(large_intestine),1(skin) MAP3K21 314 0 196 60 0.234375 TRUE TRUE +ENSG00000115486.12 . BCM GRCh38.p13 chr2 85550604 85550604 + C C T Missense_Mutation SNP ENST00000233838.9 exon14 c.G2035A p.E679K exonic ENSG00000115486.12 . nonsynonymous SNV ENSG00000115486.12:ENST00000233838.9:exon14:c.G2035A:p.E679K 2p11.2 C3L-00183 . . . . . . . . . 7.20 D T P B D D M T N 0.734 T T D 0.186 0.589 0.410 0.467 T T T T D T 2.576 22.600 0.998 D N 0.174 3.190 0.160 2.995 1.000 0.722 0.546 0.725 0.735 . 5.780 4.880 2.710 1.026 0.599 0.904 0.122 0.408 584 . . . . GGCX 339 0 365 102 0.218415417558887 TRUE NA +ENSG00000169607.13 . BCM GRCh38.p13 chr2 112746524 112746526 + CAG CAG - In_Frame_Del DEL ENST00000302450.11 exon6 c.1652_1654del p.A551del exonic ENSG00000169607.13 . nonframeshift deletion ENSG00000169607.13:ENST00000302450.11:exon6:c.1652_1654del:p.A551del 2q14.1 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CKAP2L 117 0 65 16 0.197530864197531 TRUE TRUE +ENSG00000075886.11 . BCM GRCh38.p13 chr2 131478169 131478169 + G G C Missense_Mutation SNP ENST00000321253.7 exon2 c.G9C p.E3D exonic ENSG00000075886.11 . nonsynonymous SNV ENSG00000075886.11:ENST00000321253.7:exon2:c.G9C:p.E3D 2q21.1 C3L-00183 . . . . . . . . . 7.14 . D . . U D . T N 0.744 D D T 0.575 0.810 0.448 . T . T T D . 3.289 24.100 0.986 D D 0.289 3.723 0.165 3.015 0.950 0.554 0.588 0.602 0.613 . 2.470 2.470 4.775 0.720 0.481 1.000 0.995 0.968 946 Tubulin/FtsZ,_GTPase_domain . . . TUBA3D 73 0 97 23 0.191666666666667 NA TRUE +ENSG00000123636.18 . BCM GRCh38.p13 chr2 159382722 159382722 + A A G Missense_Mutation SNP ENST00000392783.7 exon25 c.T3842C p.L1281S exonic ENSG00000123636.18 . nonsynonymous SNV ENSG00000123636.18:ENST00000392783.7:exon25:c.T3842C:p.L1281S 2q24.2 C3L-00183 . . . . . . . . . 6.20 T T D P U N L T N 0.809 T T D 0.104 0.228 0.583 1.397 T T T T D D 3.344 24.200 0.998 D D 0.329 3.930 0.413 4.449 1.000 0.707 0.725 0.725 0.714 . 5.690 5.690 5.958 1.312 0.691 0.999 0.903 0.893 529 . . . . BAZ2B 287 0 299 84 0.219321148825065 TRUE NA +ENSG00000213901.11 . BCM GRCh38.p13 chr2 219169977 219169977 + C C G Missense_Mutation SNP ENST00000318673.6 exon1 c.G8C p.R3P exonic ENSG00000213901.11;ENSG00000280537.2 . nonsynonymous SNV ENSG00000280537.2:ENST00000318673.6:exon1:c.G8C:p.R3P,ENSG00000213901.11:ENST00000409878.8:exon1:c.G8C:p.R3P 2q35 C3L-00183 8.499e-06 0 0 0 0 1.534e-05 0 0 rs763989453 4.20 D D D P N N L T N 0.261 T T T 0.079 0.214 0.195 0.603 T T T T D T 2.281 21.400 0.995 N N -0.551 1.078 -0.579 1.078 0.989 0.421 0.514 0.547 0.664 . 4.630 0.417 0.013 1.026 0.599 0.192 0.995 0.784 478 . . . . SLC23A3 127 0 107 25 0.189393939393939 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52634804 52634804 + C C A Nonsense_Mutation SNP ENST00000296302.11 exon11 c.G1099T p.E367X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon11:c.G1099T:p.E367X 3p21.1 C3L-00183 . . . . . . . . . 5.6 . . . . D A . . . 0.833 . . . . . . . . . D D . . 7.675 39 0.996 D N 1.157 20.492 1.035 21.196 1.000 0.707 0.725 0.725 0.714 . 5.890 5.890 7.568 1.026 0.599 1.000 1.000 0.996 29 . . . ID=COSV99968670;OCCURENCE=1(biliary_tract),1(upper_aerodigestive_tract) PBRM1 134 0 79 19 0.193877551020408 TRUE TRUE +ENSG00000144909.8 . BCM GRCh38.p13 chr3 125567593 125567593 + C C G Missense_Mutation SNP ENST00000296220.6 exon6 c.G669C p.M223I exonic ENSG00000144909.8 . nonsynonymous SNV ENSG00000144909.8:ENST00000296220.6:exon6:c.G669C:p.M223I 3q21.2 C3L-00183 . . . . . . . . . 7.20 T T B B D D M T N 0.476 T T T 0.156 0.406 0.338 0.368 T T T T D D 2.277 21.400 0.987 D D 0.155 3.109 0.280 3.603 1.000 0.707 0.654 0.725 0.714 . 4.680 4.680 7.263 1.026 0.599 1.000 1.000 0.998 906 . . . . OSBPL11 133 0 60 30 0.333333333333333 TRUE TRUE +ENSG00000134962.7 . BCM GRCh38.p13 chr4 39448499 39448499 + C C G Missense_Mutation SNP ENST00000257408.5 exon5 c.C2948G p.T983R exonic ENSG00000134962.7 . nonsynonymous SNV ENSG00000134962.7:ENST00000257408.5:exon5:c.C2948G:p.T983R 4p14 C3L-00183 8.239e-06 0 0 0 0 1.499e-05 0 0 rs749646287 0.20 T T B B N N L T N 0.112 T T T 0.076 0.368 0.333 0.006 T T T T T T 0.413 5.573 0.916 N N -0.768 0.703 -0.717 0.876 1.000 0.421 0.514 0.537 0.664 . 5.780 3.830 0.640 0.148 -0.316 0.000 0.363 0.039 543 . . . . KLB 139 0 177 40 0.184331797235023 TRUE NA +ENSG00000145390.11 . BCM GRCh38.p13 chr4 119271802 119271802 + C C A Missense_Mutation SNP ENST00000450251.5 exon12 c.C1942A p.Q648K exonic ENSG00000145390.11 . nonsynonymous SNV ENSG00000145390.11:ENST00000450251.5:exon12:c.C1942A:p.Q648K 4q26 C3L-00183 . . . . . . . . . 7.20 D T D P N D L T N 0.333 T T T 0.147 0.280 0.679 0.435 T T T T D D 3.380 24.300 0.995 D D 0.677 6.815 0.682 7.420 1.000 0.731 0.588 0.651 0.649 . 5.470 5.470 5.527 1.026 0.599 1.000 0.993 0.997 546 . . . . USP53 128 0 56 4 0.0666666666666667 TRUE TRUE +ENSG00000170088.14 . BCM GRCh38.p13 chr4 165079684 165079684 + G G T Missense_Mutation SNP ENST00000306480.11 exon6 c.C790A p.L264M exonic ENSG00000170088.14 . nonsynonymous SNV ENSG00000170088.14:ENST00000306480.11:exon6:c.C790A:p.L264M 4q32.3 C3L-00183 . . . . . . . . . 1.19 T T P B N N M . N 0.153 T T T 0.016 0.233 0.040 0.022 T T T T T T 1.506 15.780 0.984 N N -0.671 0.863 -0.799 0.760 0.038 0.719 0.723 0.725 0.734 . 5.260 -0.443 0.425 1.016 0.597 0.000 0.008 0.059 979 . . . . TMEM192 111 0 127 21 0.141891891891892 TRUE TRUE +ENSG00000109576.14 . BCM GRCh38.p13 chr4 170088458 170088471 + TCCATTTTCTACAG TCCATTTTCTACAG - Frame_Shift_Del DEL ENST00000337664.9 exon2 c.161_174del p.T54Kfs*38 exonic ENSG00000109576.14 . frameshift deletion ENSG00000109576.14:ENST00000337664.9:exon2:c.161_174del:p.T54Kfs*38 4q33 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AADAT 141 0 143 23 0.13855421686747 TRUE TRUE +ENSG00000152669.9 . BCM GRCh38.p13 chr5 55232425 55232425 + G G T Missense_Mutation SNP ENST00000282572.5 exon2 c.C503A p.T168K exonic ENSG00000152669.9 . nonsynonymous SNV ENSG00000152669.9:ENST00000282572.5:exon2:c.C503A:p.T168K 5q11.2 C3L-00183 . . . . . . . . . 10.20 D D D P D D N T N 0.717 T T D 0.346 0.376 0.714 1.346 T T D T D T 4.536 32 0.995 D D 0.348 4.039 0.445 4.692 1.000 0.437 0.492 0.607 0.619 . 5.300 5.300 7.919 1.176 0.676 1.000 0.973 1.000 545 Cyclin-like;Cyclin,_N-terminal . . . CCNO 228 0 349 53 0.131840796019901 TRUE TRUE +ENSG00000217128.12 . BCM GRCh38.p13 chr5 131670476 131670476 + G G T Missense_Mutation SNP ENST00000510461.6 exon15 c.C3095A p.S1032Y exonic ENSG00000217128.12 . nonsynonymous SNV ENSG00000217128.12:ENST00000510461.6:exon15:c.C3095A:p.S1032Y 5q31.1 C3L-00183 8.351e-06 0 0 0 0 0 0 6.421e-05 rs756406723 10.18 D D D P . D L T N 0.700 T T T 0.258 0.474 0.110 0.389 . T D D D D 3.732 25.500 0.996 D D 0.612 6.049 0.655 6.989 1.000 0.706 0.725 0.710 0.636 . 6.020 6.020 5.224 1.176 0.676 1.000 0.997 0.949 375 Folliculin-interacting_protein,_C-terminal_domain;Tripartite_DENN_domain,_FNIP1/2-type . . . FNIP1 82 0 93 18 0.162162162162162 TRUE NA +ENSG00000146063.20 . BCM GRCh38.p13 chr5 181224360 181224360 + G G C Missense_Mutation SNP ENST00000315073.10 exon1 c.G361C p.D121H exonic ENSG00000146063.20 . nonsynonymous SNV ENSG00000146063.20:ENST00000315073.10:exon1:c.G361C:p.D121H 5q35.3 C3L-00183 . . . . . . . . . 10.20 D D D P D D L T N 0.413 T T D 0.172 0.310 0.438 0.509 T T T T D D 3.330 24.200 0.980 D D 0.325 3.911 0.303 3.736 1.000 0.628 0.522 0.672 0.562 . 4.640 4.640 1.951 1.101 0.526 1.000 0.998 0.397 . Zinc_finger,_RING-type . . . TRIM41 140 0 190 38 0.166666666666667 TRUE TRUE +ENSG00000196335.13 . BCM GRCh38.p13 chr7 23788070 23788070 + G G C Missense_Mutation SNP ENST00000355870.8 exon21 c.G2578C p.V860L exonic ENSG00000196335.13 . nonsynonymous SNV ENSG00000196335.13:ENST00000355870.8:exon21:c.G2578C:p.V860L 7p15.3 C3L-00183 . . . . . . . . . 10.20 D D P P D D M T N 0.724 T T D 0.570 0.727 0.744 0.246 T T D T D D 3.149 23.700 0.997 D N 0.439 4.598 0.441 4.661 0.000 0.554 0.588 0.547 0.564 . 5.940 3.840 2.441 1.172 0.672 1.000 0.999 0.999 607 Protein_kinase_domain . . . STK31 88 0 46 13 0.220338983050847 TRUE TRUE +ENSG00000122786.20 . BCM GRCh38.p13 chr7 134960589 134960589 + A A T Missense_Mutation SNP ENST00000361675.7 exon13 c.A2256T p.K752N exonic ENSG00000122786.20 . nonsynonymous SNV ENSG00000122786.20:ENST00000361675.7:exon13:c.A2256T:p.K752N 7q33 C3L-00183 . . . . . . . . . 13.20 D D D D D D M T D 0.753 T T D 0.311 0.523 0.824 0.699 T T T T D D 3.613 25.100 0.999 D D 0.569 5.623 0.507 5.219 0.989 0.707 0.547 0.725 0.714 . 5.560 4.400 2.420 1.312 0.756 1.000 0.999 0.998 848 . . . . CALD1 153 1 187 36 0.161434977578475 TRUE TRUE +ENSG00000285880.1 . BCM GRCh38.p13 chr8 37935051 37935051 + C C A Missense_Mutation SNP ENST00000647937.1 exon2 c.G854T p.C285F exonic ENSG00000285880.1 . nonsynonymous SNV ENSG00000285880.1:ENST00000647937.1:exon2:c.G854T:p.C285F 8p11.23 C3L-00183 . . . . . . . . . 0.10 . . . . . N . . . . T T T 0.052 . 0.449 . . . T T T T 0.054 1.713 0.850 N N -0.350 1.495 -0.457 1.274 0.989 0.497 0.590 0.547 0.542 . 5.600 3.230 -0.246 -1.207 0.549 0.000 0.000 0.010 744 . . . . AC144573.1 121 0 117 42 0.264150943396226 TRUE TRUE +ENSG00000188676.13 . BCM GRCh38.p13 chr8 39979173 39979173 + C C T Missense_Mutation SNP ENST00000502986.2 exon4 c.C341T p.A114V exonic ENSG00000188676.13 . nonsynonymous SNV ENSG00000188676.13:ENST00000502986.2:exon4:c.C341T:p.A114V 8p11.21 C3L-00183 . . . . . . . . . 0.17 T T . . N N . T N 0.150 T T T 0.045 0.398 0.154 0.013 T T T T T T 1.335 14.640 0.961 N N -0.902 0.518 -0.951 0.552 0.982 0.497 0.547 0.547 0.542 . 5.350 0.964 0.946 -0.282 -0.257 0.003 0.005 0.211 923 . . . ID=COSV100584888;OCCURENCE=1(stomach) IDO2 134 0 194 49 0.201646090534979 TRUE NA +ENSG00000178764.8 . BCM GRCh38.p13 chr8 122953167 122953167 + T T C Missense_Mutation SNP ENST00000314393.6 exon3 c.T1657C p.F553L exonic ENSG00000178764.8 . nonsynonymous SNV ENSG00000178764.8:ENST00000314393.6:exon3:c.T1657C:p.F553L 8q24.13 C3L-00183 . . . . . . . . . 11.20 T T B B D D M D N 0.564 D D D 0.616 0.294 0.945 1.018 T T D D D T 2.635 22.700 0.997 D N 0.113 2.939 0.232 3.344 0.994 0.706 0.709 0.710 0.668 . 5.410 5.410 3.709 1.062 0.576 1.000 0.996 0.993 952 Homeobox_domain . . . ZHX2 285 0 251 50 0.166112956810631 TRUE TRUE +ENSG00000185963.14 . BCM GRCh38.p13 chr9 92729137 92729137 + A A T Missense_Mutation SNP ENST00000375512.3 exon2 c.T340A p.Y114N exonic ENSG00000185963.14 . nonsynonymous SNV ENSG00000185963.14:ENST00000375512.3:exon2:c.T340A:p.Y114N 9q22.31 C3L-00183 . . . . . . . . . 15.20 D D D P D D M T D 0.946 T T D 0.388 0.728 0.795 1.849 T D D D D D 3.990 26.900 0.988 D D 0.628 6.217 0.617 6.441 1.000 0.737 0.696 0.733 0.711 . 5.180 5.180 6.174 1.312 0.756 1.000 0.982 0.950 976 . . . . BICD2 172 0 279 84 0.231404958677686 TRUE TRUE +ENSG00000197859.11 . BCM GRCh38.p13 chr9 133544484 133544484 + A A T Missense_Mutation SNP ENST00000651351.2 exon8 c.A697T p.T233S exonic ENSG00000197859.11 . nonsynonymous SNV ENSG00000197859.11:ENST00000651351.2:exon8:c.A697T:p.T233S 9q34.2 C3L-00183 . . . . . . . . . 15.20 D D D D D D M T D 0.693 T T D 0.538 0.749 0.823 1.210 T T D D D D 4.108 27.800 0.998 D D 0.801 8.800 0.737 8.512 1.000 0.646 0.590 0.645 0.639 . 5.100 5.100 7.428 1.312 0.756 1.000 0.991 0.952 850 ADAM-TS_Spacer_1 . . . ADAMTSL2 393 1 554 114 0.170658682634731 TRUE TRUE +ENSG00000107331.17 . BCM GRCh38.p13 chr9 137011543 137011543 + G G C Missense_Mutation SNP ENST00000371605.7 exon36 c.C5660G p.T1887R exonic ENSG00000107331.17 . nonsynonymous SNV ENSG00000107331.17:ENST00000371605.7:exon36:c.C5660G:p.T1887R 9q34.3 C3L-00183 . . . . . . . . . 19.20 D D D D U D M D D 0.957 D D D 0.837 0.677 0.848 1.837 D D D D D D 4.312 29.700 0.994 D D 0.507 5.088 0.383 4.240 1.000 0.696 0.588 0.723 0.563 . 3.370 3.370 9.467 1.083 0.616 1.000 0.996 0.978 982 . . . . ABCA2 155 0 159 37 0.188775510204082 TRUE TRUE +ENSG00000214655.10 . BCM GRCh38.p13 chr10 73796973 73796973 + G G A Missense_Mutation SNP ENST00000605216.5 exon16 c.G3218A p.G1073E exonic ENSG00000214655.10 . nonsynonymous SNV ENSG00000214655.10:ENST00000605216.5:exon16:c.G3218A:p.G1073E 10q22.2 C3L-00183 . . . . . . . . . 2.20 T T B B U N N T N 0.266 T T T 0.090 0.116 0.043 0.991 T T T T T D 1.849 18.100 0.935 D N 0.155 3.109 0.254 3.458 0.933 0.672 0.702 0.644 0.711 . 5.300 4.200 1.248 1.176 0.676 1.000 1.000 1.000 561 . . . . ZSWIM8 103 0 118 25 0.174825174825175 TRUE NA +ENSG00000148834.13 . BCM GRCh38.p13 chr10 104263013 104263013 + A A - Frame_Shift_Del DEL ENST00000369713.10 exon4 c.401delA p.N135Ifs*8 exonic ENSG00000148834.13 . frameshift deletion ENSG00000148834.13:ENST00000369713.10:exon4:c.401delA:p.N135Ifs*8 10q25.1 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GSTO1 110 0 30 4 0.117647058823529 NA TRUE +ENSG00000197658.9 . BCM GRCh38.p13 chr11 63134709 63134709 + A A - Frame_Shift_Del DEL ENST00000612278.4 exon2 c.462delT p.S156Hfs*6 exonic ENSG00000197658.9 . frameshift deletion ENSG00000197658.9:ENST00000612278.4:exon2:c.462delT:p.S156Hfs*6 11q12.3 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC22A24 157 0 130 38 0.226190476190476 TRUE TRUE +ENSG00000109971.14 . BCM GRCh38.p13 chr11 123059560 123059560 + T T C Missense_Mutation SNP ENST00000534624.6 exon5 c.A1033G p.K345E exonic ENSG00000109971.14 . nonsynonymous SNV ENSG00000109971.14:ENST00000534624.6:exon5:c.A1033G:p.K345E 11q24.1 C3L-00183 . . . . . . . . . 16.20 D D D D D D H T D 0.792 T T D 0.570 0.767 0.506 . D T D D D D 4.452 32 0.999 D D 0.934 11.956 0.805 10.288 1.000 0.628 0.672 0.686 0.658 . 4.650 4.650 7.882 1.135 0.665 1.000 0.991 0.709 933 Heat_shock_protein_70,_conserved_site . . . HSPA8 179 0 172 33 0.160975609756098 NA TRUE +ENSG00000186442.7 . BCM GRCh38.p13 chr12 52794286 52794286 + T T A Missense_Mutation SNP ENST00000417996.2 exon2 c.A691T p.N231Y exonic ENSG00000186442.7 . nonsynonymous SNV ENSG00000186442.7:ENST00000417996.2:exon2:c.A691T:p.N231Y 12q13.13 C3L-00183 . . . . . . . . . 8.20 D D D P N N M T D 0.339 T T D 0.358 0.425 0.872 0.529 T D T T D T 2.085 19.900 0.989 N N -0.230 1.794 -0.451 1.284 0.800 0.497 0.590 0.547 0.542 . 4.750 -1.920 -0.427 -0.143 -0.110 0.000 0.960 0.979 581 Intermediate_filament,_rod_domain . . . KRT3 168 0 214 57 0.210332103321033 TRUE TRUE +ENSG00000104093.13 . BCM GRCh38.p13 chr15 51499240 51499240 + A A C Missense_Mutation SNP ENST00000251076.9 exon18 c.T3984G p.I1328M exonic ENSG00000104093.13 . nonsynonymous SNV ENSG00000104093.13:ENST00000251076.9:exon18:c.T3984G:p.I1328M 15q21.2 C3L-00183 . . . . . . . . . 2.18 T . B B N D N T N 0.142 T T T 0.050 0.485 0.215 0.324 T T T T T T 1.058 12.320 0.836 D . -0.454 1.270 -0.268 1.632 0.040 0.657 0.695 0.673 0.700 . 5.660 3.340 0.496 0.315 0.691 0.992 1.000 0.996 515 RAVE_complex_protein_Rav1_C-terminal . . . DMXL2 166 0 125 34 0.213836477987421 TRUE TRUE +ENSG00000196547.15 . BCM GRCh38.p13 chr15 90913661 90913661 + C C A Missense_Mutation SNP ENST00000559717.6 exon19 c.C2766A p.F922L exonic ENSG00000196547.15 . nonsynonymous SNV ENSG00000196547.15:ENST00000559717.6:exon19:c.C2766A:p.F922L 15q26.1 C3L-00183 . . . . . . . . . 16.20 D T P P D D M D D 0.711 D D D 0.779 0.791 0.884 0.815 T D D D D D 3.709 25.400 0.998 D D 0.557 5.509 0.538 5.526 1.000 0.707 0.702 0.723 0.714 . 4.970 4.970 2.509 1.026 0.599 1.000 1.000 0.992 634 Glycosyl_hydrolase_family_38,_C-terminal . . . MAN2A2 129 0 161 18 0.100558659217877 TRUE TRUE +ENSG00000091262.15 . BCM GRCh38.p13 chr16 16182887 16182887 + C C A Missense_Mutation SNP ENST00000205557.11 exon16 c.G1987T p.G663C exonic ENSG00000091262.15 . nonsynonymous SNV ENSG00000091262.15:ENST00000205557.11:exon16:c.G1987T:p.G663C 16p13.11 C3L-00183 8.24e-06 0 0 0 0 1.499e-05 0 0 rs72653780 18.20 D D D D U D H D D 0.991 D D D 0.953 0.973 0.893 0.420 T D D D D D 4.289 29.500 0.997 D D 0.864 10.163 0.672 7.257 1.000 0.554 0.590 0.602 0.542 . 4.970 4.970 7.899 1.025 0.598 1.000 0.032 0.540 883 ABC_transporter-like;AAA+_ATPase_domain . . . ABCC6 302 2 294 55 0.157593123209169 TRUE TRUE +ENSG00000103494.14 . BCM GRCh38.p13 chr16 53656505 53656505 + C C A Missense_Mutation SNP ENST00000647211.2 exon14 c.G1666T p.D556Y exonic ENSG00000103494.14 . nonsynonymous SNV ENSG00000103494.14:ENST00000647211.2:exon14:c.G1666T:p.D556Y 16q12.2 C3L-00183 . . . . . . . . . 17.20 D D D D D D M T D 0.934 D D D 0.663 0.396 0.889 0.469 T T D D D D 3.978 26.800 0.995 D D 0.859 10.034 0.849 11.731 1.000 0.638 0.670 0.659 0.668 . 5.930 5.930 7.010 1.026 0.599 1.000 0.971 0.978 319 . . . . RPGRIP1L 326 0 216 45 0.172413793103448 TRUE TRUE +ENSG00000161939.19 . BCM GRCh38.p13 chr17 7013737 7013737 + T T G Missense_Mutation SNP ENST00000548577.5 exon2 c.T267G p.D89E exonic ENSG00000161939.19;ENSG00000219200.11 . nonsynonymous SNV ENSG00000219200.11:ENST00000548577.5:exon2:c.T267G:p.D89E 17p13.1 C3L-00183 . . . . . . . . . 4.15 T T . . . D L . N 0.409 T T T 0.404 - 0.048 0.635 . T T T D T 3.906 26.400 0.997 D D -0.086 2.219 0.010 2.392 1.000 0.543 0.522 0.686 0.639 . 5.420 3.080 0.845 1.138 0.665 0.995 1.000 0.999 764 . . . . RNASEK-C17orf49 148 0 154 39 0.202072538860104 TRUE TRUE +ENSG00000129657.16 . BCM GRCh38.p13 chr17 77213348 77213353 + TCCTGC TCCTGC - In_Frame_Del DEL ENST00000436233.9 exon16 c.1898_1903del p.I633_Q635delinsK exonic ENSG00000129657.16 . nonframeshift deletion ENSG00000129657.16:ENST00000436233.9:exon16:c.1898_1903del:p.I633_Q635delinsK 17q25.3 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC14L1 85 0 63 20 0.240963855421687 TRUE TRUE +ENSG00000141934.10 . BCM GRCh38.p13 chr19 281396 281396 + A A T Missense_Mutation SNP ENST00000434325.7 exon6 c.T859A p.S287T exonic ENSG00000141934.10 . nonsynonymous SNV ENSG00000141934.10:ENST00000434325.7:exon6:c.T859A:p.S287T 19p13.3 C3L-00183 . . . . . . . . . 3.19 D D P P U N . T N 0.247 T T T 0.129 0.148 0.275 0.635 T T T T T T 1.933 18.740 0.987 D N -0.607 0.975 -0.631 1.000 0.001 0.706 0.590 0.571 0.613 . 4.220 1.950 1.690 1.159 0.674 0.995 0.132 0.084 994 . . . . PLPP2 15 0 6 3 0.333333333333333 TRUE NA +ENSG00000167664.8 . BCM GRCh38.p13 chr19 4294644 4294644 + C C A Missense_Mutation SNP ENST00000301272.6 exon4 c.G485T p.G162V exonic ENSG00000167664.8 . nonsynonymous SNV ENSG00000167664.8:ENST00000301272.6:exon4:c.G485T:p.G162V 19p13.3 C3L-00183 . . . . . . . . . 1.19 T D B B . N N T N 0.196 T T T 0.013 0.334 0.204 0.320 T T T T T T -0.847 0.019 0.668 N N -1.612 0.052 -1.661 0.060 0.000 0.516 0.610 0.550 0.542 . 2.940 -1.820 -1.175 -1.640 -2.290 0.000 0.001 0.000 946 . . . . TMIGD2 58 0 57 14 0.197183098591549 TRUE TRUE +ENSG00000132016.11 . BCM GRCh38.p13 chr19 13889862 13889862 + A A T Missense_Mutation SNP ENST00000586783.5 exon5 c.T994A p.S332T exonic ENSG00000132016.11 . nonsynonymous SNV ENSG00000132016.11:ENST00000586783.5:exon5:c.T994A:p.S332T 19p13.12 C3L-00183 . . . . . . . . . 1.19 T T D P N N L T N 0.091 T T T 0.071 0.088 0.367 0.313 . T T T T T 0.798 9.368 0.952 N N -1.059 0.344 -1.282 0.221 0.569 0.615 0.588 0.616 0.568 . 3.190 -6.390 -0.643 -0.129 0.691 0.000 0.003 0.426 917 . . . . C19orf57 206 0 201 39 0.1625 TRUE TRUE +ENSG00000170848.16 . BCM GRCh38.p13 chr19 42907142 42907151 + GAATGAAGGG GAATGAAGGG - Nonsense_Mutation DEL ENST00000292125.6 exon5 c.1011_1020del p.Y337* exonic ENSG00000170848.16 . stopgain ENSG00000170848.16:ENST00000292125.6:exon5:c.1011_1020del:p.Y337* 19q13.31 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSG6 156 0 149 42 0.219895287958115 NA TRUE +ENSG00000149451.18 . BCM GRCh38.p13 chr20 3674810 3674810 + C C T Missense_Mutation SNP ENST00000356518.7 exon5 c.G373A p.D125N exonic ENSG00000149451.18 . nonsynonymous SNV ENSG00000149451.18:ENST00000356518.7:exon5:c.G373A:p.D125N 20p13 C3L-00183 . . . . . . . . . 0.18 T T B B . N . T N 0.228 T T T 0.059 0.547 0.252 0.176 T T T T T T 0.544 6.960 0.627 N N -1.430 0.105 -1.445 0.130 0.999 0.646 0.590 0.645 0.639 . 4.580 0.452 -0.102 -0.824 -1.799 0.000 0.612 0.454 628 Peptidase_M12B,_propeptide . . ID=COSV100598191;OCCURENCE=1(stomach) ADAM33 50 0 40 14 0.259259259259259 TRUE NA +ENSG00000198792.13 . BCM GRCh38.p13 chr22 38230713 38230713 + A A C Missense_Mutation SNP ENST00000361906.8 exon5 c.T481G p.W161G exonic ENSG00000198792.13 . nonsynonymous SNV ENSG00000198792.13:ENST00000361906.8:exon5:c.T481G:p.W161G 22q13.1 C3L-00183 . . . . . . . . . 7.20 T T B B D D N T N 0.450 T T T 0.172 0.429 0.321 0.947 T T D T D D 2.706 22.800 0.902 D D -0.255 1.727 -0.026 2.272 1.000 0.732 0.725 0.744 0.592 . 5.120 5.120 5.025 1.312 0.756 1.000 1.000 0.994 331 . . . . TMEM184B 150 0 201 36 0.151898734177215 TRUE TRUE +ENSG00000100241.21 . BCM GRCh38.p13 chr22 50455126 50455126 + G G T Missense_Mutation SNP ENST00000348911.10 exon33 c.C4496A p.P1499H exonic ENSG00000100241.21 . nonsynonymous SNV ENSG00000100241.21:ENST00000348911.10:exon33:c.C4496A:p.P1499H 22q13.33 C3L-00183 . . . . . . . . . 15.16 D D . . D D . D D 0.935 D D D 0.919 . 0.860 . T . D D D D 4.284 29.400 0.996 D D 0.851 9.871 0.742 8.627 1.000 0.707 0.702 0.723 0.714 . 3.800 3.800 9.770 1.085 0.672 1.000 1.000 0.997 819 Myotubularin-like_phosphatase_domain . . . SBF1 187 1 235 42 0.151624548736462 TRUE TRUE +ENSG00000175809.6 . BCM GRCh38.p13 chrX 22273536 22273536 + C C T Missense_Mutation SNP ENST00000323684.4 exon1 c.C545T p.P182L exonic ENSG00000175809.6 . nonsynonymous SNV ENSG00000175809.6:ENST00000323684.4:exon1:c.C545T:p.P182L Xp22.11 C3L-00183 . . . . . . . . . 5.18 D D P B U N . T D 0.230 T T T 0.037 0.466 0.040 0.381 T T T T D D 1.104 12.810 0.937 N . . . . . 0.000 . . . . . 3.420 0.504 1.817 0.980 -0.218 0.114 0.018 0.010 789 . . . . CBLL2 124 1 131 42 0.242774566473988 TRUE TRUE +ENSG00000095777.17 . BCM GRCh38.p13 chr10 26147560 26147560 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000095777.17 ENST00000642920.2:exon23:c.2635+1G>A . . 10p12.1 C3L-00183 8.261e-06 0 0 0 0 1.502e-05 0 0 rs762313427 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.593 34 0.996 D . 1.231 26.882 1.086 25.564 1.000 0.078 0.063 0.084 0.057 0.987 5.390 5.390 9.917 1.176 0.676 1.000 0.997 0.951 903 . . . . MYO3A 319 1 274 51 0.156923076923077 TRUE NA +ENSG00000144048.10 . BCM GRCh38.p13 chr2 73774952 73774952 + A A T Silent SNP ENST00000272444.7 exon3 c.T411A p.I137I exonic ENSG00000144048.10 . synonymous SNV ENSG00000144048.10:ENST00000272444.7:exon3:c.T411A:p.I137I 2p13.1 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP11 56 0 13 3 0.1875 TRUE NA +ENSG00000145198.14 . BCM GRCh38.p13 chr3 184230868 184230868 + C C A Silent SNP ENST00000426955.6 exon2 c.C261A p.R87R exonic ENSG00000145198.14 . synonymous SNV ENSG00000145198.14:ENST00000426955.6:exon2:c.C261A:p.R87R 3q27.1 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA5B2 14 0 17 5 0.227272727272727 NA TRUE +ENSG00000164031.17 . BCM GRCh38.p13 chr4 99908715 99908715 + A A C Silent SNP ENST00000442697.7 exon4 c.T633G p.P211P exonic ENSG00000164031.17 . synonymous SNV ENSG00000164031.17:ENST00000442697.7:exon4:c.T633G:p.P211P 4q23 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJB14 73 0 34 4 0.105263157894737 TRUE TRUE +ENSG00000138688.15 . BCM GRCh38.p13 chr4 122229168 122229168 + T T C Silent SNP ENST00000264501.8 exon25 c.T2970C p.Y990Y exonic ENSG00000138688.15 . synonymous SNV ENSG00000138688.15:ENST00000264501.8:exon25:c.T2970C:p.Y990Y 4q27 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1109 116 0 47 9 0.160714285714286 TRUE TRUE +ENSG00000176049.16 . BCM GRCh38.p13 chr5 147644976 147644976 + G G A Silent SNP ENST00000265272.9 exon6 c.C957T p.T319T exonic ENSG00000176049.16 . synonymous SNV ENSG00000176049.16:ENST00000265272.9:exon6:c.C957T:p.T319T 5q32 C3L-00183 0.0002 0 8.645e-05 0 0 0.0004 0 0 rs147082202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54615045;OCCURENCE=1(stomach),1(skin) JAKMIP2 134 0 177 26 0.12807881773399 TRUE TRUE +ENSG00000166341.8 . BCM GRCh38.p13 chr11 6641475 6641475 + G G A Silent SNP ENST00000299441.5 exon2 c.C139T p.L47L exonic ENSG00000166341.8 . synonymous SNV ENSG00000166341.8:ENST00000299441.5:exon2:c.C139T:p.L47L 11p15.4 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCHS1 164 0 249 50 0.167224080267559 TRUE TRUE +ENSG00000175264.8 . BCM GRCh38.p13 chr11 45650029 45650029 + A A G Silent SNP ENST00000308064.7 exon4 c.T895C p.L299L exonic ENSG00000175264.8 . synonymous SNV ENSG00000175264.8:ENST00000308064.7:exon4:c.T895C:p.L299L 11p11.2 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHST1 178 0 205 48 0.189723320158103 TRUE TRUE +ENSG00000103653.16 . BCM GRCh38.p13 chr15 74801069 74801069 + C C T Silent SNP ENST00000220003.13 exon9 c.C780T p.G260G exonic ENSG00000103653.16 . synonymous SNV ENSG00000103653.16:ENST00000220003.13:exon9:c.C780T:p.G260G 15q24.1 C3L-00183 . . . . . . . . rs930375989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSK 196 1 201 39 0.1625 TRUE NA +ENSG00000083457.12 . BCM GRCh38.p13 chr17 3757020 3757020 + G G A Silent SNP ENST00000263087.9 exon10 c.C1135T p.L379L exonic ENSG00000083457.12 . synonymous SNV ENSG00000083457.12:ENST00000263087.9:exon10:c.C1135T:p.L379L 17p13.2 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53994825;OCCURENCE=1(stomach) ITGAE 122 0 147 33 0.183333333333333 TRUE TRUE +ENSG00000106462.11 . BCM GRCh38.p13 chr7 148836989 148836989 + C C T Intron SNP NA NA NA NA intronic ENSG00000106462.11 . . . 7q36.1 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EZH2 109 0 104 24 0.1875 TRUE NA +ENSG00000276758.1 . BCM GRCh38.p13 chr19 54296057 54296057 + C C T 3'Flank SNP NA NA NA NA downstream ENSG00000276758.1 dist=137 . . 19q13.42 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC245884.12 125 0 96 7 0.0679611650485437 TRUE NA +ENSG00000198900.6 . BCM GRCh38.p13 chr20 41029481 41029481 + C C T Intron SNP NA NA NA NA intronic ENSG00000198900.6 . . . 20q12 C3L-00183 . . . . . . . . rs978793838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOP1 80 0 53 10 0.158730158730159 TRUE NA +ENSG00000186965.5 . BCM GRCh38.p13 chr21 30487189 30487189 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000186965.5 ENST00000334055.5:c.*1G>C . . 21q22.11 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRTAP19-2 140 0 168 32 0.16 TRUE NA +ENSG00000093010.14 . BCM GRCh38.p13 chr22 19964317 19964317 + T T C Intron SNP NA NA NA NA intronic ENSG00000093010.14 . . . 22q11.21 C3L-00183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COMT 330 0 338 91 0.212121212121212 TRUE TRUE +ENSG00000187017.17 . BCM GRCh38.p13 chr1 6451642 6451642 + A A G Missense_Mutation SNP ENST00000645284.1 exon9 c.A1955G p.N652S exonic ENSG00000187017.17 . nonsynonymous SNV ENSG00000187017.17:ENST00000645284.1:exon9:c.A1955G:p.N652S 1p36.31 C3L-00360 . . . . . . . . . 14.20 D D D D D D M T D 0.646 T T D 0.339 0.404 0.426 0.449 D T T T D D 3.381 24.300 0.999 D D 0.731 7.570 0.715 8.043 1.000 0.696 0.627 0.723 0.621 . 5.290 5.290 4.988 1.294 0.669 1.000 0.998 0.997 833 WH2_domain . . . ESPN 463 0 393 36 0.0839160839160839 NA TRUE +ENSG00000162510.6 . BCM GRCh38.p13 chr1 30721487 30721487 + G G A Missense_Mutation SNP ENST00000373765.5 exon2 c.C359T p.T120I exonic ENSG00000162510.6 . nonsynonymous SNV ENSG00000162510.6:ENST00000373765.5:exon2:c.C359T:p.T120I 1p35.2 C3L-00360 . . . . . . . . . 18.19 D D D D . D M D D 0.970 D D D 0.860 0.668 0.979 0.927 T D D D D D 4.070 27.500 0.999 D D 0.809 8.957 0.732 8.399 1.000 0.660 0.694 0.547 0.613 . 4.430 4.430 10.003 1.176 0.676 1.000 0.921 0.939 958 von_Willebrand_factor,_type_A . . . MATN1 247 0 206 17 0.0762331838565022 TRUE TRUE +ENSG00000134644.15 . BCM GRCh38.p13 chr1 30968473 30968473 + C C G Missense_Mutation SNP ENST00000257075.9 exon11 c.G1526C p.S509T exonic ENSG00000134644.15 . nonsynonymous SNV ENSG00000134644.15:ENST00000257075.9:exon11:c.G1526C:p.S509T 1p35.2 C3L-00360 . . . . . . . . . 4.20 T T B B D D N T N 0.231 T T T 0.111 0.135 0.093 0.650 T T T T D T 2.112 20.200 0.975 D N -0.131 2.078 0.088 2.685 1.000 0.722 0.698 0.696 0.735 . 5.770 5.770 0.631 1.026 0.599 0.999 0.999 0.985 946 . . . . PUM1 93 0 66 7 0.0958904109589041 TRUE TRUE +ENSG00000198799.12 . BCM GRCh38.p13 chr1 113112547 113112547 + T T C Missense_Mutation SNP ENST00000361127.6 exon14 c.T1867C p.C623R exonic ENSG00000198799.12 . nonsynonymous SNV ENSG00000198799.12:ENST00000361127.6:exon14:c.T1867C:p.C623R 1p13.2 C3L-00360 . . . . . . . . . 19.20 D D D D D D H D D 0.989 D D D 0.951 0.890 0.985 0.906 D T D D D D 4.293 29.500 0.998 D D 1.009 14.205 0.907 14.062 1.000 0.672 0.654 0.702 0.636 . 5.450 5.450 8.017 1.137 0.607 1.000 1.000 0.998 216 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . LRIG2 217 0 142 39 0.215469613259669 TRUE NA +ENSG00000163435.16 . BCM GRCh38.p13 chr1 202011212 202011212 + C C A Missense_Mutation SNP ENST00000367284.10 exon2 c.C76A p.L26M exonic ENSG00000163435.16 . nonsynonymous SNV ENSG00000163435.16:ENST00000367284.10:exon2:c.C76A:p.L26M 1q32.1 C3L-00360 . . . . . . . . . 3.20 D D B B U N L T N 0.172 T T D 0.071 0.361 0.380 0.534 T T T T T T 1.386 14.990 0.992 N N -0.573 1.038 -0.613 1.027 1.000 0.543 0.542 0.686 0.542 . 5.880 3.020 1.658 0.103 0.599 0.003 0.072 0.248 814 . . . . ELF3 137 0 151 12 0.0736196319018405 TRUE TRUE +ENSG00000042781.14 . BCM GRCh38.p13 chr1 215640578 215640578 + A A G Missense_Mutation SNP ENST00000307340.8 exon68 c.T14948C p.I4983T exonic ENSG00000042781.14 . nonsynonymous SNV ENSG00000042781.14:ENST00000307340.8:exon68:c.T14948C:p.I4983T 1q41 C3L-00360 8.242e-06 0 0 0 0 1.499e-05 0 0 rs765747576 8.20 D D P B U D M T N 0.508 T T D 0.190 0.552 0.724 0.064 T T T T D T 2.709 22.800 0.984 D D 0.256 3.560 0.267 3.533 1.000 0.487 0.574 0.547 0.564 . 5.600 5.600 6.666 1.312 0.691 0.989 0.870 0.632 677 . . . . USH2A 386 0 357 22 0.0580474934036939 TRUE NA +ENSG00000135773.13 . BCM GRCh38.p13 chr1 230780690 230780690 + A A C Missense_Mutation SNP ENST00000271971.7 exon11 c.A1463C p.E488A exonic ENSG00000135773.13 . nonsynonymous SNV ENSG00000135773.13:ENST00000271971.7:exon11:c.A1463C:p.E488A 1q42.2 C3L-00360 . . . . . . . . . 17.20 D D P D D D M D D 0.640 D D D 0.789 0.672 0.980 0.444 T T D D D D 4.241 29.000 0.997 D D 0.835 9.493 0.787 9.741 1.000 0.487 0.590 0.563 0.564 . 5.430 5.430 9.043 1.207 0.756 1.000 0.997 0.993 878 Calpain_subdomain_III;Peptidase_C2,_calpain,_domain_III;Peptidase_C2,_calpain,_large_subunit,_domain_III . . . CAPN9 298 0 218 104 0.322981366459627 TRUE TRUE +ENSG00000168264.10 . BCM GRCh38.p13 chr1 234609035 234609035 + T T C Missense_Mutation SNP ENST00000366609.3 exon1 c.A460G p.N154D exonic ENSG00000168264.10 . nonsynonymous SNV ENSG00000168264.10:ENST00000366609.3:exon1:c.A460G:p.N154D 1q42.3 C3L-00360 . . . . . . . . . 7.20 D T B B N D M T N 0.165 T T D 0.104 0.113 0.592 2.132 D T T T D T 2.480 22.400 0.977 D N -0.621 0.950 -0.615 1.023 1.000 0.442 0.522 0.391 0.581 . 3.020 3.020 1.737 0.847 0.290 0.966 0.915 0.498 917 . . . . IRF2BP2 24 0 18 7 0.28 TRUE TRUE +ENSG00000138101.18 . BCM GRCh38.p13 chr2 25576844 25576844 + - NA A Frame_Shift_Ins NA ENST00000406818.7 exon8 c.869_870insT p.S291Lfs*14 exonic ENSG00000138101.18 . frameshift insertion ENSG00000138101.18:ENST00000406818.7:exon8:c.869_870insT:p.S291Lfs*14 2p23.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DTNB NA NA NA NA NA NA NA +ENSG00000115423.19 . BCM GRCh38.p13 chr2 84547334 84547334 + T T A Missense_Mutation SNP ENST00000389394.8 exon6 c.T997A p.Y333N exonic ENSG00000115423.19 . nonsynonymous SNV ENSG00000115423.19:ENST00000389394.8:exon6:c.T997A:p.Y333N 2p11.2 C3L-00360 . . . . . . . . . 0.18 T . B B . N L T N 0.269 T T T 0.047 0.591 0.160 0.134 T T T T T T 1.259 14.090 0.269 N N -1.397 0.118 -1.338 0.186 0.000 0.487 0.574 0.574 0.564 . 5.450 -3.500 0.721 -0.590 -0.194 0.248 0.567 0.951 855 . . . . DNAH6 198 0 149 35 0.190217391304348 TRUE TRUE +ENSG00000211460.12 . BCM GRCh38.p13 chr2 121755784 121755784 + C C A Missense_Mutation SNP ENST00000389682.8 exon1 c.C5A p.S2Y exonic ENSG00000211460.12 . nonsynonymous SNV ENSG00000211460.12:ENST00000389682.8:exon1:c.C5A:p.S2Y 2q14.3 C3L-00360 . . . . . . . . . 13.19 D D D P N D M . N 0.589 T T D 0.180 0.424 0.258 2.381 D T D D D D 4.222 28.900 0.994 D D 0.611 6.034 0.550 5.651 1.000 0.442 0.522 0.522 0.562 . 4.180 4.180 4.360 1.010 0.580 1.000 1.000 0.992 768 . . . . TSN 263 2 171 38 0.181818181818182 TRUE TRUE +ENSG00000136535.15 . BCM GRCh38.p13 chr2 161417058 161417058 + A A T Missense_Mutation SNP ENST00000389554.8 exon1 c.A648T p.K216N exonic ENSG00000136535.15 . nonsynonymous SNV ENSG00000136535.15:ENST00000389554.8:exon1:c.A648T:p.K216N 2q24.2 C3L-00360 . . . . . . . . . 19.20 D D D P D D M D D 0.831 D D D 0.750 0.571 0.668 . D D D D D D 4.092 27.700 0.998 D D 0.685 6.911 0.652 6.941 1.000 0.598 0.596 0.608 0.639 . 5.390 5.390 3.867 1.312 0.756 1.000 1.000 1.000 700 Transcription_factor,_T-box,_conserved_site . . . TBR1 112 1 48 9 0.157894736842105 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149864 10149868 + GTCAG GTCAG - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.541_545del p.R182Afs*72 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.541_545del:p.R182Afs*72 3p25.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 575 0 324 66 0.169230769230769 TRUE TRUE +ENSG00000163898.10 . BCM GRCh38.p13 chr3 185511586 185511586 + T T C Missense_Mutation SNP ENST00000296252.9 exon9 c.A1206G p.I402M exonic ENSG00000163898.10 . nonsynonymous SNV ENSG00000163898.10:ENST00000296252.9:exon9:c.A1206G:p.I402M 3q27.2 C3L-00360 . . . . . . . . . 4.20 T T P B N N M D N 0.413 T T D 0.343 0.438 0.777 0.215 T T T T T D 0.115 2.231 0.363 N N -1.148 0.266 -1.355 0.175 0.983 0.563 0.654 0.547 0.542 . 5.400 -7.740 -2.018 -0.601 -0.167 0.000 0.011 0.225 761 . . . . LIPH 368 1 289 67 0.188202247191011 TRUE TRUE +ENSG00000113504.21 . BCM GRCh38.p13 chr5 1087022 1087022 + A A G Missense_Mutation SNP ENST00000264930.10 exon6 c.T556C p.Y186H exonic ENSG00000113504.21 . nonsynonymous SNV ENSG00000113504.21:ENST00000264930.10:exon6:c.T556C:p.Y186H 5p15.33 C3L-00360 . . . . . . . . . 20.20 D D D D D D H D D 0.961 D D D 0.967 0.785 0.925 1.180 D D D D D D 3.885 26.300 0.997 D D 0.795 8.684 0.608 6.327 1.000 0.696 0.634 0.723 0.636 . 3.930 3.930 8.428 1.145 0.756 1.000 0.980 0.849 976 Amino_acid_permease/_SLC12A_domain . . . SLC12A7 170 0 129 30 0.188679245283019 TRUE TRUE +ENSG00000145675.15 . BCM GRCh38.p13 chr5 68293823 68293823 + - NA A Frame_Shift_Ins NA ENST00000521381.6 exon11 c.1414_1415insA p.R472Qfs*14 exonic ENSG00000145675.15 . frameshift insertion ENSG00000145675.15:ENST00000521381.6:exon11:c.1414_1415insA:p.R472Qfs*14 5q13.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3R1 NA NA NA NA NA NA NA +ENSG00000131503.21 . BCM GRCh38.p13 chr5 140506893 140506893 + A A G Missense_Mutation SNP ENST00000360839.7 exon19 c.A3467G p.Y1156C exonic ENSG00000131503.21;ENSG00000254996.5 . nonsynonymous SNV ENSG00000131503.21:ENST00000360839.7:exon19:c.A3467G:p.Y1156C,ENSG00000254996.5:ENST00000532219.5:exon19:c.A3467G:p.Y1156C 5q31.3 C3L-00360 . . . . . . . . . 15.20 D D D D D D N T D 0.810 T T D 0.648 0.586 0.651 0.802 D T D D D D 4.270 29.300 0.998 D D 0.767 8.164 0.806 10.305 1.000 0.732 0.744 0.725 0.714 . 6.020 6.020 9.322 1.308 0.750 1.000 1.000 1.000 128 Ankyrin_repeat-containing_domain . . . ANKHD1 264 0 166 122 0.423611111111111 TRUE TRUE +ENSG00000086570.12 . BCM GRCh38.p13 chr5 151544750 151544750 + G G T Nonsense_Mutation SNP ENST00000261800.5 exon9 c.C6377A p.S2126X exonic ENSG00000086570.12 . stopgain ENSG00000086570.12:ENST00000261800.5:exon9:c.C6377A:p.S2126X 5q33.1 C3L-00360 . . . . . . . . . 4.6 . . . . N A . . . 0.914 . . . . . . . . . D D . . 8.399 42 0.996 D N 0.972 13.077 0.865 12.337 1.000 0.516 0.610 0.574 0.564 . 5.630 5.630 8.097 1.164 0.662 1.000 1.000 0.998 890 Cadherin-like . . . FAT2 190 0 140 91 0.393939393939394 TRUE TRUE +ENSG00000164626.9 . BCM GRCh38.p13 chr6 39191244 39191244 + T T G Missense_Mutation SNP ENST00000359534.4 exon5 c.A1146C p.E382D exonic ENSG00000164626.9 . nonsynonymous SNV ENSG00000164626.9:ENST00000359534.4:exon5:c.A1146C:p.E382D 6p21.2 C3L-00360 . . . . . . . . . 0.20 T T B B N N N T N 0.068 T T T 0.010 0.088 0.213 0.620 T T T T T T -0.138 0.692 0.854 N N -1.292 0.169 -1.313 0.201 0.946 0.732 0.709 0.744 0.564 . 5.970 -3.750 -0.334 -0.767 -0.218 0.004 0.000 0.002 889 . . . . KCNK5 213 1 132 38 0.223529411764706 TRUE TRUE +ENSG00000135205.15 . BCM GRCh38.p13 chr7 77293104 77293104 + A A T Missense_Mutation SNP ENST00000285871.5 exon18 c.A2568T p.E856D exonic ENSG00000135205.15 . nonsynonymous SNV ENSG00000135205.15:ENST00000285871.5:exon18:c.A2568T:p.E856D 7q11.23 C3L-00360 . . . . . . . . . 3.20 T T B B D D L T N 0.072 T T T 0.057 0.247 0.156 0.156 T T T T T T 2.004 19.290 0.951 D N -0.784 0.679 -0.699 0.901 0.351 0.657 0.695 0.686 0.639 . 5.650 -2.820 0.142 0.284 -0.065 0.973 0.994 0.946 471 . . . . CCDC146 383 0 245 52 0.175084175084175 TRUE TRUE +ENSG00000147912.13 . BCM GRCh38.p13 chr9 37541614 37541614 + C C T Missense_Mutation SNP ENST00000432825.7 exon2 c.G155A p.C52Y exonic ENSG00000147912.13 . nonsynonymous SNV ENSG00000147912.13:ENST00000432825.7:exon2:c.G155A:p.C52Y 9p13.2 C3L-00360 . . . . . . . . . 7.20 T D B B D D M T D 0.428 T T T 0.171 0.552 0.643 0.502 T T T T D T 2.159 20.500 0.996 D N -0.151 2.017 0.028 2.456 0.998 0.745 0.710 0.732 0.636 . 5.840 4.940 4.609 1.022 0.596 1.000 0.995 0.886 624 . . . . FBXO10 297 1 201 40 0.16597510373444 TRUE TRUE +ENSG00000106819.13 . BCM GRCh38.p13 chr9 92457295 92457303 + CCAAAGTTC CCAAAGTTC - In_Frame_Del DEL ENST00000375544.7 exon8 c.1128_1136del p.N377_G379del exonic ENSG00000106819.13 . nonframeshift deletion ENSG00000106819.13:ENST00000375544.7:exon8:c.1128_1136del:p.N377_G379del 9q22.31 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASPN 201 0 119 21 0.15 TRUE TRUE +ENSG00000122359.18 . BCM GRCh38.p13 chr10 80161989 80161989 + C C G Missense_Mutation SNP ENST00000422982.8 exon12 c.G1126C p.E376Q exonic ENSG00000122359.18 . nonsynonymous SNV ENSG00000122359.18:ENST00000422982.8:exon12:c.G1126C:p.E376Q 10q22.3 C3L-00360 . . . . . . . . . 15.20 D D D D D D H T D 0.941 T T D 0.486 0.689 0.405 0.370 T T D D D D 3.799 25.800 0.999 D D 1.029 14.861 0.910 14.199 1.000 0.778 0.725 0.854 0.714 . 5.070 5.070 7.773 1.026 0.597 1.000 0.950 0.963 935 . . . . ANXA11 140 0 119 22 0.156028368794326 TRUE TRUE +ENSG00000126749.16 . BCM GRCh38.p13 chr12 6975110 6975110 + A A G Missense_Mutation SNP ENST00000599672.6 exon4 c.A433G p.S145G exonic ENSG00000126749.16 . nonsynonymous SNV ENSG00000126749.16:ENST00000599672.6:exon4:c.A433G:p.S145G 12p13.31 C3L-00360 . . . . . . . . . 7.12 . D B B . . . T . 0.784 . . D . . 0.695 . D D T T . D 3.192 23.800 0.998 D D . . . . 1.000 0.295 0.178 0.320 0.323 . 5.340 5.340 8.488 1.312 0.756 1.000 0.987 0.989 476 . . . . EMG1 211 0 164 10 0.0574712643678161 TRUE TRUE +ENSG00000061987.16 . BCM GRCh38.p13 chr12 62560727 62560727 + G G A Missense_Mutation SNP ENST00000393630.8 exon26 c.G3646A p.G1216R exonic ENSG00000061987.16 . nonsynonymous SNV ENSG00000061987.16:ENST00000393630.8:exon26:c.G3646A:p.G1216R 12q14.1 C3L-00360 . . . . . . . . . 7.17 T T . . D D . T N 0.499 T T D 0.165 - 0.093 . T T T T D D 3.421 24.500 0.962 D D 0.047 2.684 0.161 3.001 1.000 0.707 0.725 0.609 0.714 . 5.290 5.290 6.563 1.176 0.676 1.000 1.000 0.998 727 Mon2,_C-terminal . . . MON2 357 2 189 34 0.152466367713004 TRUE TRUE +ENSG00000120798.17 . BCM GRCh38.p13 chr12 95062604 95062604 + A A T Missense_Mutation SNP ENST00000333003.10 exon3 c.T189A p.D63E exonic ENSG00000120798.17 . nonsynonymous SNV ENSG00000120798.17:ENST00000333003.10:exon3:c.T189A:p.D63E 12q22 C3L-00360 . . . . . . . . . 2.20 T T B B N N N D N 0.112 T T T 0.218 0.350 0.270 0.007 T T T T T T 0.936 10.840 0.868 D N -0.848 0.587 -0.744 0.837 0.000 0.707 0.725 0.725 0.714 . 5.210 -2.160 0.091 1.118 0.756 0.924 0.996 0.926 930 . . . . NR2C1 521 0 374 69 0.155756207674944 TRUE TRUE +ENSG00000132938.21 . BCM GRCh38.p13 chr13 29025829 29025829 + C C A Missense_Mutation SNP ENST00000612955.5 exon3 c.C1131A p.N377K exonic ENSG00000132938.21 . nonsynonymous SNV ENSG00000132938.21:ENST00000612955.5:exon3:c.C1131A:p.N377K 13q12.3 C3L-00360 . . . . . . . . . 0.13 . T . . N N . . . 0.099 T T T 0.119 . 0.014 . T . T T T T 0.137 2.441 0.904 N N -1.109 0.298 -1.188 0.293 0.005 0.554 0.574 0.618 0.564 . 5.550 -4.580 -1.189 0.046 0.544 0.000 0.000 0.002 850 . . . . MTUS2 268 0 130 42 0.244186046511628 TRUE TRUE +ENSG00000175820.4 . BCM GRCh38.p13 chr13 102741010 102741010 + T T - Frame_Shift_Del DEL ENST00000322527.4 exon4 c.9687delA p.A3230Hfs*5 exonic ENSG00000175820.4 . frameshift deletion ENSG00000175820.4:ENST00000322527.4:exon4:c.9687delA:p.A3230Hfs*5 13q33.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC168 164 0 51 10 0.163934426229508 TRUE TRUE +ENSG00000092201.10 . BCM GRCh38.p13 chr14 21369803 21369803 + C C T Missense_Mutation SNP ENST00000216297.7 exon5 c.G577A p.V193I exonic ENSG00000092201.10 . nonsynonymous SNV ENSG00000092201.10:ENST00000216297.7:exon5:c.G577A:p.V193I 14q11.2 C3L-00360 . . . . . . . . . 7.20 T T B B D D L T N 0.552 T T D 0.289 0.606 0.380 0.795 T T T T D D 2.249 21.200 0.981 D D 0.144 3.065 0.328 3.887 1.000 0.707 0.725 0.702 0.714 . 5.530 5.530 7.212 1.013 0.599 1.000 1.000 0.995 940 FACT_complex_subunit_SPT16;Peptidase_M24 . . . SUPT16H 217 0 114 32 0.219178082191781 TRUE TRUE +ENSG00000166831.9 . BCM GRCh38.p13 chr15 64741199 64741199 + T T A Missense_Mutation SNP ENST00000300069.5 exon7 c.A611T p.K204M exonic ENSG00000166831.9 . nonsynonymous SNV ENSG00000166831.9:ENST00000300069.5:exon7:c.A611T:p.K204M 15q22.31 C3L-00360 . . . . . . . . . 13.20 D D D D D D L T D 0.831 T T D 0.330 0.381 0.500 1.436 T T D T D D 4.264 29.300 0.994 D D 0.536 5.328 0.494 5.108 1.000 0.632 0.588 0.698 0.655 . 5.480 5.480 7.660 1.134 0.661 1.000 0.998 0.617 167 . . . . RBPMS2 151 1 129 20 0.134228187919463 TRUE TRUE +ENSG00000140386.13 . BCM GRCh38.p13 chr15 76434213 76434213 + A A T Missense_Mutation SNP ENST00000563290.6 exon26 c.T3176A p.V1059E exonic ENSG00000140386.13 . nonsynonymous SNV ENSG00000140386.13:ENST00000563290.6:exon26:c.T3176A:p.V1059E 15q24.3 C3L-00360 . . . . . . . . . 2.18 T T . . N D L T N 0.767 T T T 0.176 . 0.233 0.523 T T T T T T 2.175 20.700 0.951 D N -0.456 1.265 -0.343 1.478 0.998 0.653 0.659 0.659 0.668 . 5.830 0.904 1.984 0.325 -0.107 1.000 0.995 0.980 598 . . . . SCAPER 259 0 174 35 0.167464114832536 TRUE TRUE +ENSG00000156232.7 . BCM GRCh38.p13 chr15 82823156 82823156 + G G - Frame_Shift_Del DEL ENST00000286760.5 exon6 c.1327delG p.V443Sfs*16 exonic ENSG00000156232.7 . frameshift deletion ENSG00000156232.7:ENST00000286760.5:exon6:c.1327delG:p.V443Sfs*16 15q25.2 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WHAMM 64 0 58 9 0.134328358208955 TRUE TRUE +ENSG00000140450.9 . BCM GRCh38.p13 chr15 97968033 97968033 + A A C Missense_Mutation SNP ENST00000268042.7 exon4 c.A542C p.Q181P exonic ENSG00000140450.9 . nonsynonymous SNV ENSG00000140450.9:ENST00000268042.7:exon4:c.A542C:p.Q181P 15q26.2 C3L-00360 . . . . . . . . . 8.20 D D P B D D M T N 0.588 T T T 0.131 0.521 0.601 0.428 T T T T D T 3.068 23.600 0.996 D D 0.291 3.736 0.384 4.245 1.000 0.615 0.574 0.659 0.568 . 5.680 5.680 2.631 1.288 0.756 1.000 0.998 0.997 992 . . . . ARRDC4 145 1 109 13 0.10655737704918 TRUE TRUE +ENSG00000007541.17 . BCM GRCh38.p13 chr16 575943 575943 + A A G Missense_Mutation SNP ENST00000026218.9 exon3 c.A794G p.K265R exonic ENSG00000007541.17 . nonsynonymous SNV ENSG00000007541.17:ENST00000026218.9:exon3:c.A794G:p.K265R 16p13.3 C3L-00360 3.059e-05 0 0.0007 0 0 0 0 0 rs375666595 1.20 T T B B N N L T N 0.187 T T T 0.025 . 0.450 0.111 T T T T T T 1.609 16.430 0.928 D N -0.692 0.827 -0.651 0.970 0.381 0.707 0.702 0.723 0.714 . 5.180 1.610 0.838 1.312 0.691 0.568 0.176 0.137 814 . . . . PIGQ 382 0 243 38 0.135231316725979 TRUE NA +ENSG00000010539.11 . BCM GRCh38.p13 chr16 3224442 3224442 + C C A Missense_Mutation SNP ENST00000431561.7 exon5 c.G638T p.R213M exonic ENSG00000010539.11 . nonsynonymous SNV ENSG00000010539.11:ENST00000431561.7:exon5:c.G638T:p.R213M 16p13.3 C3L-00360 . . . . . . . . . 3.20 D T P P N N M T N 0.628 T T T 0.073 0.451 0.294 0.036 T T T T D T 2.170 20.600 0.956 N N -0.335 1.530 -0.401 1.371 0.002 0.563 0.654 0.609 0.636 . 5.700 1.130 -0.606 0.034 -0.176 0.000 0.661 0.437 764 . . . ID=COSV101205262;OCCURENCE=1(biliary_tract) ZNF200 255 0 160 28 0.148936170212766 TRUE TRUE +ENSG00000178188.14 . BCM GRCh38.p13 chr16 28872680 28872680 + T T A Nonsense_Mutation SNP ENST00000322610.12 exon10 c.T1872A p.Y624X exonic ENSG00000178188.14 . stopgain ENSG00000178188.14:ENST00000322610.12:exon10:c.T1872A:p.Y624X 16p11.2 C3L-00360 . . . . . . . . . 4.6 . . . . N D . . . 0.860 . . . . . . . . . D D . . 7.035 37 0.996 D N 0.447 4.646 0.265 3.520 0.791 0.707 0.698 0.723 0.714 . 5.100 1.670 0.283 1.138 0.663 0.997 1.000 0.999 291 SH2_domain . . . SH2B1 391 0 295 59 0.166666666666667 TRUE TRUE +ENSG00000087237.12 . BCM GRCh38.p13 chr16 56973496 56973496 + G G A Missense_Mutation SNP ENST00000200676.8 exon9 c.G916A p.G306R exonic ENSG00000087237.12 . nonsynonymous SNV ENSG00000087237.12:ENST00000200676.8:exon9:c.G916A:p.G306R 16q13 C3L-00360 . . . . . . . . . 9.20 D D D P D D M T D 0.336 T T D 0.223 0.776 0.462 0.509 T T T T D T 3.145 23.700 0.998 N N 0.065 2.750 -0.051 2.193 1.000 0.516 0.686 0.547 0.586 . 3.650 3.650 3.436 0.713 0.509 0.996 0.309 0.391 715 Lipid-binding_serum_glycoprotein,_C-terminal . . . CETP 225 0 179 21 0.105 TRUE TRUE +ENSG00000159753.14 . BCM GRCh38.p13 chr16 67654617 67654629 + AAGAGATAGCAAG AAGAGATAGCAAG - Frame_Shift_Del DEL ENST00000334583.11 exon31 c.3507_3519del p.R1170Pfs*4 exonic ENSG00000159753.14 . frameshift deletion ENSG00000159753.14:ENST00000334583.11:exon31:c.3507_3519del:p.R1170Pfs*4 16q22.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CARMIL2 62 0 39 10 0.204081632653061 TRUE TRUE +ENSG00000183196.10 . BCM GRCh38.p13 chr16 75478946 75478946 + G G C Missense_Mutation SNP ENST00000332272.9 exon3 c.C883G p.L295V exonic ENSG00000183196.10 . nonsynonymous SNV ENSG00000183196.10:ENST00000332272.9:exon3:c.C883G:p.L295V 16q23.1 C3L-00360 . . . . . . . . . 8.20 T T B B D D L D N 0.516 D D D 0.395 0.598 0.941 0.616 T T T T T D 1.819 17.870 0.730 D N -0.123 2.104 -0.053 2.188 0.999 0.696 0.588 0.723 0.542 . 4.730 3.730 1.973 1.176 0.509 0.988 0.438 0.225 657 Sulfotransferase_domain . . . CHST6 941 0 688 164 0.192488262910798 TRUE NA +ENSG00000103150.7 . BCM GRCh38.p13 chr16 83912341 83912341 + A A C Missense_Mutation SNP ENST00000262430.6 exon4 c.A922C p.I308L exonic ENSG00000103150.7 . nonsynonymous SNV ENSG00000103150.7:ENST00000262430.6:exon4:c.A922C:p.I308L 16q23.3 C3L-00360 . . . . . . . . . 13.20 D T D P D D M D N 0.488 D D D 0.553 0.793 0.831 0.041 T T D T D D 2.272 21.400 0.970 D N -0.244 1.757 -0.432 1.315 0.999 0.707 0.654 0.725 0.636 . 5.230 -1.060 2.594 -0.142 -0.054 0.991 0.002 0.005 952 Malonyl-CoA_decarboxylase,_C-terminal . . . MLYCD 468 0 338 70 0.17156862745098 TRUE TRUE +ENSG00000240505.9 . BCM GRCh38.p13 chr17 16952544 16952544 + C C T Missense_Mutation SNP ENST00000261652.7 exon2 c.G101A p.C34Y exonic ENSG00000240505.9 . nonsynonymous SNV ENSG00000240505.9:ENST00000261652.7:exon2:c.G101A:p.C34Y 17p11.2 C3L-00360 . . . . . . . . . 16.20 D D D D D D M D D 0.715 D D D 0.738 0.508 0.930 0.084 T D D D D T 3.269 24.000 0.534 N N 0.258 3.571 0.085 2.674 1.000 0.672 0.702 0.573 0.613 . 3.060 3.060 2.595 0.850 0.419 0.951 0.446 0.286 534 . . . . TNFRSF13B 559 1 355 87 0.19683257918552 TRUE TRUE +ENSG00000178307.10 . BCM GRCh38.p13 chr17 21214142 21214142 + C C T Nonsense_Mutation SNP ENST00000317635.6 exon1 c.G11A p.W4X exonic ENSG00000178307.10 . stopgain ENSG00000178307.10:ENST00000317635.6:exon1:c.G11A:p.W4X 17p11.2 C3L-00360 . . . . . . . . . 5.6 . . . . D D . . . 0.031 . . . . . . . . . D D . . 7.968 40 0.995 D N 0.706 7.198 0.573 5.896 1.000 0.025 0.219 0.240 0.250 . 5.000 5.000 2.260 1.026 0.544 1.000 1.000 0.999 787 . . . . TMEM11 303 0 247 47 0.159863945578231 TRUE TRUE +ENSG00000131475.7 . BCM GRCh38.p13 chr17 42775465 42775465 + A A G Missense_Mutation SNP ENST00000253794.7 exon4 c.A338G p.Q113R exonic ENSG00000131475.7 . nonsynonymous SNV ENSG00000131475.7:ENST00000253794.7:exon4:c.A338G:p.Q113R 17q21.2 C3L-00360 . . . . . . . . . 7.20 T T B B D D L T N 0.854 T T T 0.159 0.557 0.369 0.668 T T D T D D 3.607 25.100 0.979 D D 0.028 2.613 0.203 3.199 1.000 0.731 0.750 0.723 0.592 . 4.760 4.760 9.033 1.312 0.756 1.000 1.000 0.992 236 . . . . VPS25 100 0 68 15 0.180722891566265 TRUE TRUE +ENSG00000168646.13 . BCM GRCh38.p13 chr17 65537389 65537389 + A A T Nonsense_Mutation SNP ENST00000307078.10 exon6 c.T1647A p.Y549X exonic ENSG00000168646.13 . stopgain ENSG00000168646.13:ENST00000307078.10:exon6:c.T1647A:p.Y549X 17q24.1 C3L-00360 . . . . . . . . . 5.6 . . . . D A . . . 0.828 . . . . . . . . . D D . . 7.043 37 0.987 D N -0.071 2.267 -0.361 1.444 1.000 0.632 0.654 0.698 0.492 . 5.300 -3.080 0.420 0.245 0.639 0.991 0.784 0.601 913 . . . . AXIN2 302 0 178 45 0.201793721973094 TRUE TRUE +ENSG00000108946.15 . BCM GRCh38.p13 chr17 68530340 68530340 + A A G Missense_Mutation SNP ENST00000589228.6 exon11 c.A1037G p.K346R exonic ENSG00000108946.15 . nonsynonymous SNV ENSG00000108946.15:ENST00000589228.6:exon11:c.A1037G:p.K346R 17q24.2 C3L-00360 . . . . . . . . . 14.20 T T P P D D N D N 0.566 D D D 0.714 0.478 0.898 1.196 D D D D D D 3.718 25.500 0.999 D D 0.601 5.930 0.675 7.317 1.000 0.719 0.723 0.725 0.711 . 5.900 5.900 9.325 1.312 0.691 1.000 1.000 0.995 968 Cyclic_nucleotide-binding_domain . . . PRKAR1A 440 0 324 28 0.0795454545454545 TRUE NA +ENSG00000161526.15 . BCM GRCh38.p13 chr17 75706015 75706015 + T T G Missense_Mutation SNP ENST00000584667.6 exon10 c.T668G p.F223C exonic ENSG00000161526.15 . nonsynonymous SNV ENSG00000161526.15:ENST00000584667.6:exon10:c.T668G:p.F223C 17q25.1 C3L-00360 . . . . . . . . . 14.17 . D D D D D L . . 0.942 T T D 0.620 0.479 0.744 2.009 D D D D D D 4.447 32 0.994 D D 0.749 7.864 0.745 8.694 1.000 0.722 0.702 0.725 0.735 . 5.690 5.690 7.267 1.134 0.661 1.000 1.000 0.991 976 . . . . SAP30BP 223 0 147 20 0.119760479041916 TRUE TRUE +ENSG00000134762.17 . BCM GRCh38.p13 chr18 30994227 30994227 + T T - Frame_Shift_Del DEL ENST00000360428.9 exon16 c.2639delA p.N880Ifs*10 exonic ENSG00000134762.17 . frameshift deletion ENSG00000134762.17:ENST00000360428.9:exon16:c.2639delA:p.N880Ifs*10 18q12.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DSC3 374 0 199 54 0.213438735177866 TRUE TRUE +ENSG00000125734.15 . BCM GRCh38.p13 chr19 6732032 6732032 + C C T Missense_Mutation SNP ENST00000264080.11 exon13 c.G1249A p.V417I exonic ENSG00000125734.15 . nonsynonymous SNV ENSG00000125734.15:ENST00000264080.11:exon13:c.G1249A:p.V417I 19p13.3 C3L-00360 . . . . . . . . rs542165016 6.20 T T D P U D L T N 0.452 T T T 0.197 0.595 0.171 0.575 T T T T D D 2.716 22.900 0.892 D D 0.007 2.537 -0.035 2.243 1.000 0.707 0.702 0.723 0.714 . 4.610 4.610 3.747 0.962 0.469 0.997 0.008 0.003 946 . . . . GPR108 233 0 181 50 0.216450216450216 TRUE NA +ENSG00000099785.10 . BCM GRCh38.p13 chr19 8430840 8430840 + C C - Frame_Shift_Del DEL ENST00000602117.1 exon4 c.555delC p.F186Sfs*31 exonic ENSG00000099785.10 . frameshift deletion ENSG00000099785.10:ENST00000602117.1:exon4:c.555delC:p.F186Sfs*31 19p13.2 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARCHF2 215 0 168 34 0.168316831683168 TRUE TRUE +ENSG00000105220.17 . BCM GRCh38.p13 chr19 34378941 34378941 + C C G Missense_Mutation SNP ENST00000356487.11 exon7 c.C641G p.T214S exonic ENSG00000105220.17 . nonsynonymous SNV ENSG00000105220.17:ENST00000356487.11:exon7:c.C641G:p.T214S 19q13.11 C3L-00360 . . . . . . . . . 19.20 D D D P D D M D D 0.826 D D D 0.834 0.829 0.986 1.170 D D D D D D 3.471 24.600 0.998 D D 0.904 11.155 0.892 13.395 1.000 0.719 0.702 0.723 0.714 . 5.930 5.930 7.574 0.966 0.599 1.000 0.988 0.951 932 Phosphoglucose_isomerase,_SIS_domain_1 . . . GPI 406 0 286 64 0.182857142857143 TRUE TRUE +ENSG00000087086.15 . BCM GRCh38.p13 chr19 48966673 48966673 + G G A Missense_Mutation SNP ENST00000331825.11 exon4 c.G466A p.G156S exonic ENSG00000087086.15 . nonsynonymous SNV ENSG00000087086.15:ENST00000331825.11:exon4:c.G466A:p.G156S 19q13.33 C3L-00360 1.649e-05 0 0 0 0 3e-05 0 0 rs151265703 3.20 D T B B N N L T N 0.060 T T T 0.244 . 0.729 0.446 T T T T T T 1.605 16.400 0.852 D D -0.674 0.856 -0.697 0.905 1.000 0.628 0.672 0.672 0.658 . 4.460 1.030 3.294 0.230 -0.106 1.000 0.352 0.078 711 Ferritin-like_diiron_domain . . . FTL 317 0 228 57 0.2 TRUE NA +ENSG00000130529.16 . BCM GRCh38.p13 chr19 49211233 49211233 + G G - Frame_Shift_Del DEL ENST00000252826.10 exon24 c.3604delG p.G1202Vfs*31 exonic ENSG00000130529.16 . frameshift deletion ENSG00000130529.16:ENST00000252826.10:exon24:c.3604delG:p.G1202Vfs*31 19q13.33 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRPM4 415 0 226 65 0.223367697594502 TRUE TRUE +ENSG00000101222.12 . BCM GRCh38.p13 chr20 3778981 3778981 + G G C Missense_Mutation SNP ENST00000379756.3 exon4 c.C388G p.P130A exonic ENSG00000101222.12 . nonsynonymous SNV ENSG00000101222.12:ENST00000379756.3:exon4:c.C388G:p.P130A 20p13 C3L-00360 . . . . . . . . . 2.20 T T B B N D M T N 0.218 T T T 0.049 0.386 0.085 0.453 T T T T T T 1.279 14.240 0.747 N N -0.248 1.747 -0.145 1.923 1.000 0.598 0.596 0.596 0.639 . 5.190 4.230 0.956 1.161 0.676 0.102 0.995 0.971 782 . . . . SPEF1 216 0 152 34 0.182795698924731 TRUE TRUE +ENSG00000132639.13 . BCM GRCh38.p13 chr20 10299407 10299407 + G G A Missense_Mutation SNP ENST00000254976.7 exon7 c.G547A p.E183K exonic ENSG00000132639.13 . nonsynonymous SNV ENSG00000132639.13:ENST00000254976.7:exon7:c.G547A:p.E183K 20p12.2 C3L-00360 . . . . . . . . . 9.19 T T B B D D L . N 0.548 T T T 0.397 0.418 0.479 1.658 D T D D D D 3.100 23.600 0.997 D D 0.337 3.976 0.519 5.334 1.000 0.516 0.547 0.577 0.568 . 6.170 6.170 10.003 1.176 0.676 1.000 1.000 0.997 910 Target_SNARE_coiled-coil_homology_domain . . ID=COSV54774996;OCCURENCE=2(skin) SNAP25 138 0 96 26 0.213114754098361 TRUE TRUE +ENSG00000089006.16 . BCM GRCh38.p13 chr20 17951525 17951525 + T T C Missense_Mutation SNP ENST00000377768.7 exon7 c.A584G p.D195G exonic ENSG00000089006.16 . nonsynonymous SNV ENSG00000089006.16:ENST00000377768.7:exon7:c.A584G:p.D195G 20p11.23 C3L-00360 . . . . . . . . . 10.20 D T P B D D M T D 0.892 T T D 0.229 0.628 0.473 0.408 T T T T D D 3.847 26.100 0.997 D D 0.427 4.513 0.482 5.002 1.000 0.707 0.725 0.725 0.711 . 5.210 5.210 7.962 1.138 0.665 1.000 0.998 0.995 779 Sorting_nexin_Vps5-like,_C-terminal . . . SNX5 146 0 76 23 0.232323232323232 TRUE TRUE +ENSG00000186190.7 . BCM GRCh38.p13 chr20 33069919 33069919 + C C T Missense_Mutation SNP ENST00000375494.3 exon11 c.C1181T p.S394L exonic ENSG00000186190.7 . nonsynonymous SNV ENSG00000186190.7:ENST00000375494.3:exon11:c.C1181T:p.S394L 20q11.21 C3L-00360 0.0004 0.0044 0.0004 0 0 2.997e-05 0 0 rs79150816 5.20 T D P P N D M T D 0.695 T T T 0.131 . 0.461 0.306 T T T T T T 3.233 23.900 0.998 D N 0.354 4.073 0.273 3.563 0.218 0.487 0.563 0.547 0.564 . 4.340 4.340 3.348 -0.235 -0.236 0.971 0.135 0.027 102 Lipid-binding_serum_glycoprotein,_C-terminal . . ID=COSV64957476;OCCURENCE=1(NS) BPIFB3 224 0 206 43 0.172690763052209 TRUE TRUE +ENSG00000124253.11 . BCM GRCh38.p13 chr20 57561618 57561620 + GAA GAA - In_Frame_Del DEL ENST00000319441.6 exon2 c.207_209del p.K71del exonic ENSG00000124253.11 . nonframeshift deletion ENSG00000124253.11:ENST00000319441.6:exon2:c.207_209del:p.K71del 20q13.31 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCK1 157 0 110 28 0.202898550724638 TRUE TRUE +ENSG00000182871.16 . BCM GRCh38.p13 chr21 45493163 45493163 + G G A Missense_Mutation SNP ENST00000359759.8 exon24 c.G3460A p.G1154R exonic ENSG00000182871.16 . nonsynonymous SNV ENSG00000182871.16:ENST00000359759.8:exon24:c.G3460A:p.G1154R 21q22.3 C3L-00360 . . . . . . . . . 19.20 D D D D D D M D D 0.838 D D D 0.882 0.570 0.982 0.445 T D D D D D 3.734 25.500 0.999 D D 0.679 6.833 0.476 4.951 1.000 0.707 0.588 0.702 0.714 . 3.920 3.920 0.474 1.121 0.618 0.939 0.192 0.110 604 . . . . COL18A1 316 0 227 58 0.203508771929825 TRUE TRUE +ENSG00000130988.13 . BCM GRCh38.p13 chrX 47081162 47081162 + T T G Missense_Mutation SNP ENST00000397180.6 exon3 c.T18G p.I6M exonic ENSG00000130988.13 . nonsynonymous SNV ENSG00000130988.13:ENST00000397180.6:exon3:c.T18G:p.I6M Xp11.3 C3L-00360 . . . . . . . . . 7.18 D D P P D D M . N 0.527 T T T 0.135 0.620 0.568 0.067 T T T T D D 0.922 10.670 0.988 N . . . . . 1.000 . . . . . 5.450 -4.720 -2.320 -0.155 -0.137 0.000 0.987 0.898 2 . . . . RGN 94 0 55 28 0.337349397590361 TRUE TRUE +ENSG00000147202.18 . BCM GRCh38.p13 chrX 96949032 96949032 + G G T Missense_Mutation SNP ENST00000324765.13 exon15 c.G1607T p.R536L exonic ENSG00000147202.18 . nonsynonymous SNV ENSG00000147202.18:ENST00000324765.13:exon15:c.G1607T:p.R536L Xq21.33 C3L-00360 . . . . . . . . . 6.19 T T D P N D M T D 0.292 T T T 0.050 0.290 0.357 0.403 T T T T D T 3.304 24.100 0.990 D . . . . . 0.020 . . . . . 4.900 3.100 4.454 1.175 -0.135 1.000 0.996 0.970 924 . . . ID=COSV61277524;OCCURENCE=1(ovary) DIAPH2 48 0 30 16 0.347826086956522 TRUE TRUE +ENSG00000147257.15 . BCM GRCh38.p13 chrX 133753558 133753558 + A A G Missense_Mutation SNP ENST00000370818.8 exon3 c.T956C p.V319A exonic ENSG00000147257.15 . nonsynonymous SNV ENSG00000147257.15:ENST00000370818.8:exon3:c.T956C:p.V319A Xq26.2 C3L-00360 . . . . . . . . . 7.19 T D B B D D L T N 0.662 T T D 0.220 0.542 0.747 0.245 T D T T D T 2.034 19.520 0.994 D . . . . . 1.000 . . . . . 5.400 5.400 8.873 1.207 0.756 1.000 0.736 0.840 681 . . . . GPC3 225 0 110 78 0.414893617021277 TRUE TRUE +ENSG00000004534.15 . BCM GRCh38.p13 chr3 50066241 50066241 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000004534.15 ENST00000266022.9:exon17:c.2683-1G>T . . 3p21.31 C3L-00360 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.072 35 0.990 D . 1.254 29.848 1.133 31.359 0.999 0.295 0.304 0.232 0.118 0.986 6.170 6.170 7.543 1.167 0.676 1.000 0.970 0.927 1 . . . . RBM6 110 0 48 14 0.225806451612903 TRUE TRUE +ENSG00000167612.13 . BCM GRCh38.p13 chr12 51890583 51890583 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000167612.13 ENST00000301190.11:exon5:c.638-1G>A . . 12q13.13 C3L-00360 1.124e-05 0 0 0.0001 0 0 0 0 rs760357970 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.387 34 0.994 D . 1.149 19.946 0.984 17.882 1.000 0.056 0.060 0.072 0.063 0.988 4.840 4.840 6.988 1.157 0.654 1.000 0.927 0.866 397 . . . . ANKRD33 107 0 82 14 0.145833333333333 TRUE TRUE +ENSG00000169432.18 . BCM GRCh38.p13 chr2 166228952 166228952 + T T A Silent SNP ENST00000642356.2 exon22 c.A3945T p.I1315I exonic ENSG00000169432.18 . synonymous SNV ENSG00000169432.18:ENST00000642356.2:exon22:c.A3945T:p.I1315I 2q24.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN9A 155 0 86 12 0.122448979591837 TRUE TRUE +ENSG00000077232.18 . BCM GRCh38.p13 chr2 182728866 182728866 + A A C Silent SNP ENST00000264065.12 exon7 c.A505C p.R169R exonic ENSG00000077232.18 . synonymous SNV ENSG00000077232.18:ENST00000264065.12:exon7:c.A505C:p.R169R 2q32.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJC10 205 0 114 27 0.191489361702128 TRUE TRUE +ENSG00000144406.19 . BCM GRCh38.p13 chr2 209941426 209941426 + G G A Silent SNP ENST00000439458.5 exon43 c.G6654A p.A2218A exonic ENSG00000144406.19 . synonymous SNV ENSG00000144406.19:ENST00000439458.5:exon43:c.G6654A:p.A2218A 2q34 C3L-00360 4.957e-05 0 0 0 0 0.0001 0 0 rs370522501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC80 176 0 124 20 0.138888888888889 TRUE NA +ENSG00000157985.19 . BCM GRCh38.p13 chr2 235744811 235744811 + G G A Silent SNP ENST00000304032.13 exon5 c.G510A p.E170E exonic ENSG00000157985.19 . synonymous SNV ENSG00000157985.19:ENST00000304032.13:exon5:c.G510A:p.E170E 2q37.2 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGAP1 136 0 106 26 0.196969696969697 TRUE TRUE +ENSG00000176945.17 . BCM GRCh38.p13 chr3 195725929 195725929 + A A G Silent SNP ENST00000447234.7 exon2 c.A1326G p.T442T exonic ENSG00000176945.17 . synonymous SNV ENSG00000176945.17:ENST00000447234.7:exon2:c.A1326G:p.T442T 3q29 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC20 356 0 265 42 0.136807817589577 NA TRUE +ENSG00000244731.8 . BCM GRCh38.p13 chr6 31994636 31994636 + C C T Silent SNP ENST00000428956.7 exon21 c.C2731T p.L911L exonic ENSG00000244731.8 . synonymous SNV ENSG00000244731.8:ENST00000428956.7:exon21:c.C2731T:p.L911L 6p21.33 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C4A 1407 0 785 149 0.159528907922912 NA TRUE +ENSG00000138835.22 . BCM GRCh38.p13 chr9 113596788 113596788 + G G A Silent SNP ENST00000374140.6 exon26 c.G3432A p.T1144T exonic ENSG00000138835.22 . synonymous SNV ENSG00000138835.22:ENST00000374140.6:exon26:c.G3432A:p.T1144T 9q32 C3L-00360 8.536e-06 0 0 0 0 0 0 7.043e-05 rs758491530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59514509;OCCURENCE=1(endometrium) RGS3 96 0 79 15 0.159574468085106 TRUE TRUE +ENSG00000127884.5 . BCM GRCh38.p13 chr10 133370585 133370585 + G G A Silent SNP ENST00000368547.4 exon2 c.C261T p.L87L exonic ENSG00000127884.5 . synonymous SNV ENSG00000127884.5:ENST00000368547.4:exon2:c.C261T:p.L87L 10q26.3 C3L-00360 3.25e-05 0 0.0003 0 0 2.951e-05 0 0 rs770887037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ECHS1 67 0 63 11 0.148648648648649 TRUE NA +ENSG00000069869.16 . BCM GRCh38.p13 chr15 55862966 55862966 + G G C Silent SNP ENST00000508342.5 exon5 c.C1878G p.T626T exonic ENSG00000069869.16 . synonymous SNV ENSG00000069869.16:ENST00000508342.5:exon5:c.C1878G:p.T626T 15q21.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEDD4 201 0 150 12 0.0740740740740741 TRUE NA +ENSG00000015413.9 . BCM GRCh38.p13 chr16 89630503 89630503 + T T C Silent SNP ENST00000393092.7 exon2 c.T93C p.P31P exonic ENSG00000015413.9 . synonymous SNV ENSG00000015413.9:ENST00000393092.7:exon2:c.T93C:p.P31P 16q24.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPEP1 137 0 102 18 0.15 TRUE TRUE +ENSG00000182676.5 . BCM GRCh38.p13 chr17 81833798 81833798 + C C A Silent SNP ENST00000330261.5 exon3 c.G396T p.L132L exonic ENSG00000182676.5 . synonymous SNV ENSG00000182676.5:ENST00000330261.5:exon3:c.G396T:p.L132L 17q25.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R27 236 0 169 37 0.179611650485437 TRUE TRUE +ENSG00000105556.11 . BCM GRCh38.p13 chr19 307379 307379 + T T A Silent SNP ENST00000264819.6 exon13 c.A1356T p.P452P exonic ENSG00000105556.11 . synonymous SNV ENSG00000105556.11:ENST00000264819.6:exon13:c.A1356T:p.P452P 19p13.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIER2 148 0 102 22 0.17741935483871 TRUE TRUE +ENSG00000065268.11 . BCM GRCh38.p13 chr19 990322 990322 + C C A Silent SNP ENST00000585809.6 exon4 c.C555A p.P185P exonic ENSG00000065268.11 . synonymous SNV ENSG00000065268.11:ENST00000585809.6:exon4:c.C555A:p.P185P 19p13.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR18 97 0 85 23 0.212962962962963 TRUE TRUE +ENSG00000224916.9 . BCM GRCh38.p13 chr19 44949163 44949163 + T T C Silent SNP ENST00000252490.7 exon4 c.T220C p.L74L exonic ENSG00000224916.9;ENSG00000234906.11 . synonymous SNV ENSG00000234906.11:ENST00000252490.7:exon4:c.T220C:p.L74L,ENSG00000224916.9:ENST00000589057.5:exon5:c.T451C:p.L151L 19q13.32 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APOC4-APOC2 364 0 277 66 0.192419825072886 TRUE TRUE +ENSG00000104972.15 . BCM GRCh38.p13 chr19 54630995 54630995 + C C T Silent SNP ENST00000427581.6 exon1 c.C30T p.G10G exonic ENSG00000104972.15 . synonymous SNV ENSG00000104972.15:ENST00000427581.6:exon1:c.C30T:p.G10G 19q13.42 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LILRB1 166 0 82 22 0.211538461538462 TRUE NA +ENSG00000260903.3 . BCM GRCh38.p13 chr20 31968526 31968526 + G G A Silent SNP ENST00000562532.3 exon1 c.G351A p.S117S exonic ENSG00000260903.3 . synonymous SNV ENSG00000260903.3:ENST00000562532.3:exon1:c.G351A:p.S117S 20q11.21 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XKR7 111 0 128 25 0.163398692810458 TRUE NA +ENSG00000149633.12 . BCM GRCh38.p13 chr20 38246079 38246079 + G G T Silent SNP ENST00000279024.9 exon2 c.C51A p.L17L exonic ENSG00000149633.12 . synonymous SNV ENSG00000149633.12:ENST00000279024.9:exon2:c.C51A:p.L17L 20q11.23 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99642709;OCCURENCE=1(soft_tissue) KIAA1755 406 0 311 65 0.172872340425532 TRUE TRUE +ENSG00000120500.18 . BCM GRCh38.p13 chrX 70276188 70276188 + A A G Silent SNP ENST00000307959.9 exon6 c.A252G p.P84P exonic ENSG00000120500.18 . synonymous SNV ENSG00000120500.18:ENST00000307959.9:exon6:c.A252G:p.P84P Xq13.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARR3 161 0 89 39 0.3046875 TRUE TRUE +ENSG00000175718.10 . BCM GRCh38.p13 chrX 115191760 115191760 + C C T Silent SNP ENST00000424776.5 exon1 c.C2319T p.Y773Y exonic ENSG00000175718.10 . synonymous SNV ENSG00000175718.10:ENST00000424776.5:exon1:c.C2319T:p.Y773Y Xq23 C3L-00360 0.0003 0.0006 0 0 0 0.0001 0 0.0004 rs782044389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBMXL3 180 0 103 56 0.352201257861635 TRUE NA +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39412014 39412014 + A A T Intron SNP NA NA NA NA intronic ENSG00000127603.29 . . . 1p34.3 C3L-00360 . . . . . . . . . 6.13 . D . . . D . . . 0.089 T D D 0.284 . 0.489 0.049 T T T T D T 1.751 17.380 0.998 D N 0.318 3.876 0.308 3.761 1.000 0.722 0.597 0.699 0.658 . 5.410 4.280 1.728 1.298 0.740 0.976 0.998 0.940 809 . . . . MACF1 190 0 133 16 0.10738255033557 TRUE NA +ENSG00000153563.15 . BCM GRCh38.p13 chr2 86785388 86785388 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000153563.15 ENST00000409511.6:c.*532T>A . . 2p11.2 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD8A 321 0 207 57 0.215909090909091 TRUE NA +ENSG00000206561.13 . BCM GRCh38.p13 chr3 15467819 15467819 + C C T Intron SNP NA NA NA NA intronic ENSG00000206561.13 . . . 3p25.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COLQ 114 0 74 20 0.212765957446809 TRUE NA +ENSG00000114859.16 . BCM GRCh38.p13 chr3 184361480 184361480 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000114859.16 ENST00000265593.9:c.-1G>A . . 3q27.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLCN2 355 0 264 51 0.161904761904762 TRUE NA +ENSG00000164893.9 . BCM GRCh38.p13 chr8 86215612 86215612 + G G T Intron SNP NA NA NA NA intronic ENSG00000164893.9 . . . 8q21.3 C3L-00360 . . . . . . . . . 4.16 D D D D . N . T N 0.207 T T T 0.112 0.555 0.388 . . . T T T T 0.126 2.337 0.344 N N -0.399 1.386 -0.710 0.886 0.000 0.487 0.574 0.574 0.564 . 0.627 0.627 0.888 0.621 0.373 0.001 0.001 0.002 534 . . . . SLC7A13 54 0 49 19 0.279411764705882 NA TRUE +ENSG00000156671.15 . BCM GRCh38.p13 chr10 75111638 75111638 + C C A 5'Flank SNP NA NA NA NA upstream ENSG00000156671.15 dist=18 . . 10q22.2 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD8 14 0 9 5 0.357142857142857 TRUE TRUE +ENSG00000251562.8 . BCM GRCh38.p13 chr11 65500090 65500090 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 176 0 40 8 0.166666666666667 TRUE NA +ENSG00000219410.6 . BCM GRCh38.p13 chr12 6667654 6667654 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000219410.6 . . . 12p13.31 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC125494.1 266 0 204 22 0.0973451327433628 TRUE NA +ENSG00000133943.20 . BCM GRCh38.p13 chr14 91167573 91167573 + G G A Intron SNP NA NA NA NA intronic ENSG00000133943.20 . . . 14q32.11 C3L-00360 0.0002 0 0 0 0 0 0 0.0004 rs770053427 1.16 D T B B . N . T N 0.288 T T T 0.052 0.302 0.040 . . . T T T T -0.187 0.546 0.871 N N -1.116 0.293 -1.208 0.277 0.068 0.563 0.546 0.602 0.636 . 2.990 0.437 -0.794 -0.517 -0.267 0.000 0.000 0.012 901 . . . . DGLUCY 391 0 237 63 0.21 TRUE NA +ENSG00000086504.17 . BCM GRCh38.p13 chr16 369592 369596 + GCCTC GCCTC - Intron DEL NA NA NA NA intronic ENSG00000086504.17 . . . 16p13.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRPL28 87 0 102 16 0.135593220338983 TRUE TRUE +ENSG00000261691.1 . BCM GRCh38.p13 chr16 551836 551836 + C C A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000261691.1 . . . 16p13.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Z97986.1 168 0 114 21 0.155555555555556 TRUE NA +ENSG00000174109.5 . BCM GRCh38.p13 chr16 1420149 1420149 + G G T 3'UTR SNP NA NA NA NA UTR3 ENSG00000174109.5 ENST00000442039.3:c.*97C>A . . 16p13.3 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C16orf91 371 1 254 55 0.177993527508091 TRUE NA +ENSG00000158201.10 . BCM GRCh38.p13 chr18 21663691 21663691 + A A G Intron SNP NA NA NA NA intronic ENSG00000158201.10 . . . 18q11.2 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABHD3 168 0 124 24 0.162162162162162 TRUE TRUE +ENSG00000258873.3 . BCM GRCh38.p13 chr19 57167416 57167416 + - NA A Intron SNP NA NA NA NA intronic ENSG00000258873.3 . . . 19q13.43 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUXA NA NA NA NA NA NA NA +ENSG00000124253.11 . BCM GRCh38.p13 chr20 57564460 57564460 + C C T Intron SNP NA NA NA NA intronic ENSG00000124253.11 . . . 20q13.31 C3L-00360 3.295e-05 0 0 0 0 5.994e-05 0 0 rs201340867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCK1 328 1 244 56 0.186666666666667 TRUE NA +ENSG00000033030.15 . BCM GRCh38.p13 chr12 122483311 122483312 + TA TA CT Unknown MNP ENST00000633063.3 exon7 c.638_639delinsAG p.L213Q exonic ENSG00000033030.15 . nonframeshift substitution ENSG00000033030.15:ENST00000633063.3:exon7:c.638_639delinsAG:p.L213Q 12q24.31 C3L-00360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZCCHC8 175 10 73 11 0.130952380952381 TRUE TRUE +ENSG00000065526.12 . BCM GRCh38.p13 chr1 15930322 15930325 + AGAG AGAG - Frame_Shift_Del DEL ENST00000375759.8 exon11 c.4082_4085del p.R1362Ifs*46 exonic ENSG00000065526.12 . frameshift deletion ENSG00000065526.12:ENST00000375759.8:exon11:c.4082_4085del:p.R1362Ifs*46 1p36.13 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPEN 100 0 8 4 0.333333333333333 TRUE NA +ENSG00000137941.17 . BCM GRCh38.p13 chr1 83942618 83942618 + A A T Missense_Mutation SNP ENST00000260505.13 exon7 c.T568A p.Y190N exonic ENSG00000137941.17 . nonsynonymous SNV ENSG00000137941.17:ENST00000260505.13:exon7:c.T568A:p.Y190N 1p31.1 C3L-00369 . . . . . . . . . 16.20 D D D D D D H T D 0.982 T T D 0.762 0.881 0.553 1.830 D T D D D D 4.125 28.000 0.991 D D 1.043 15.331 0.947 15.903 1.000 0.615 0.588 0.659 0.568 . 5.620 5.620 8.907 1.312 0.691 1.000 1.000 0.992 939 . . . . TTLL7 81 0 9 7 0.4375 TRUE TRUE +ENSG00000163239.12 . BCM GRCh38.p13 chr1 154544929 154544929 + A A T Missense_Mutation SNP ENST00000368480.3 exon11 c.A932T p.Q311L exonic ENSG00000163239.12 . nonsynonymous SNV ENSG00000163239.12:ENST00000368480.3:exon11:c.A932T:p.Q311L 1q21.3 C3L-00369 . . . . . . . . . 5.19 D . D D N N L T N 0.667 T T T 0.162 0.606 0.245 1.153 T T T T D T 3.579 25.000 0.994 D N 0.243 3.500 0.187 3.119 0.662 0.660 0.610 0.602 0.592 . 4.150 3.020 2.579 1.118 0.750 0.998 0.972 0.956 517 Tudor_domain . . . TDRD10 117 1 230 152 0.397905759162304 TRUE TRUE +ENSG00000186517.14 . BCM GRCh38.p13 chr1 161053356 161053356 + T T G Missense_Mutation SNP ENST00000368013.8 exon6 c.A566C p.N189T exonic ENSG00000186517.14 . nonsynonymous SNV ENSG00000186517.14:ENST00000368013.8:exon6:c.A566C:p.N189T 1q23.3 C3L-00369 . . . . . . . . . 12.20 D D D D D D L T D 0.778 T T D 0.123 0.331 0.592 1.416 T T T T D D 3.861 26.100 0.989 D D 0.623 6.170 0.611 6.358 1.000 0.672 0.702 0.514 0.542 . 5.540 5.540 3.809 1.049 0.665 1.000 0.998 0.991 551 Rho_GTPase-activating_protein_domain . . . ARHGAP30 177 0 295 222 0.429400386847195 TRUE TRUE +ENSG00000116194.13 . BCM GRCh38.p13 chr1 178865647 178865647 + C C T Missense_Mutation SNP ENST00000234816.7 exon3 c.G130A p.E44K exonic ENSG00000116194.13 . nonsynonymous SNV ENSG00000116194.13:ENST00000234816.7:exon3:c.G130A:p.E44K 1q25.2 C3L-00369 . . . . . . . . . 6.20 D T B B N D L T N 0.572 T T T 0.107 0.398 0.713 0.116 T T T T D D 2.338 21.800 0.998 D D 0.178 3.209 0.361 4.094 1.000 0.554 0.588 0.514 0.613 . 5.890 5.890 7.376 1.026 0.599 1.000 0.998 0.971 450 . . . . ANGPTL1 309 1 45 20 0.307692307692308 TRUE TRUE +ENSG00000117322.18 . BCM GRCh38.p13 chr1 207477989 207477989 + G G A Missense_Mutation SNP ENST00000367058.7 exon15 c.G2830A p.G944R exonic ENSG00000117322.18 . nonsynonymous SNV ENSG00000117322.18:ENST00000367058.7:exon15:c.G2830A:p.G944R 1q32.2 C3L-00369 . . . . . . . . . 14.19 D D D D . N H T D 0.813 T D D 0.543 0.860 0.960 0.751 T D D D D D 3.999 27.000 0.998 D N 0.548 5.434 0.392 4.300 0.351 0.706 0.710 0.659 0.530 . 5.590 4.670 3.919 1.176 0.676 0.997 0.151 0.165 812 Sushi/SCR/CCP_domain . . . CR2 271 0 191 89 0.317857142857143 TRUE TRUE +ENSG00000185842.15 . BCM GRCh38.p13 chr1 225377289 225377289 + T T G Missense_Mutation SNP ENST00000445597.6 exon54 c.T9239G p.I3080S exonic ENSG00000185842.15 . nonsynonymous SNV ENSG00000185842.15:ENST00000445597.6:exon54:c.T9239G:p.I3080S 1q42.12 C3L-00369 . . . . . . . . . 9.19 D D D D . N H T D 0.757 T T D 0.256 0.837 0.512 . T T T T D T 3.079 23.600 0.957 D N 0.526 5.247 0.431 4.585 0.101 0.487 0.574 0.547 0.613 . 5.000 5.000 2.043 1.105 0.624 0.975 0.735 0.365 619 Dynein_heavy_chain_domain . . . DNAH14 69 0 24 19 0.441860465116279 TRUE TRUE +ENSG00000182901.16 . BCM GRCh38.p13 chr1 240806297 240806297 + T T - Frame_Shift_Del DEL ENST00000366565.5 exon15 c.1112delA p.K371Rfs*41 exonic ENSG00000182901.16 . frameshift deletion ENSG00000182901.16:ENST00000366565.5:exon15:c.1112delA:p.K371Rfs*41 1q43 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS7 253 1 40 27 0.402985074626866 TRUE TRUE +ENSG00000119772.16 . BCM GRCh38.p13 chr2 25245264 25245264 + G G A Nonsense_Mutation SNP ENST00000264709.7 exon13 c.C1543T p.Q515X exonic ENSG00000119772.16 . stopgain ENSG00000119772.16:ENST00000264709.7:exon13:c.C1543T:p.Q515X 2p23.3 C3L-00369 . . . . . . . . . 5.6 . . . . D A . . . 0.988 . . . . . . . . . D D . . 8.024 40 0.998 D N 1.099 17.478 0.965 16.859 1.000 0.707 0.702 0.702 0.714 . 5.270 5.270 9.826 1.176 0.676 1.000 1.000 0.999 535 ADD_domain . . ID=COSV53051427;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) DNMT3A 129 0 211 102 0.325878594249201 TRUE TRUE +ENSG00000116127.18 . BCM GRCh38.p13 chr2 73448173 73448173 + A A C Missense_Mutation SNP ENST00000613296.5 exon8 c.A1646C p.E549A exonic ENSG00000116127.18 . nonsynonymous SNV ENSG00000116127.18:ENST00000613296.5:exon8:c.A1646C:p.E549A 2p13.1 C3L-00369 . . . . . . . . . 1.14 . T . . N N . . . 0.144 T T T 0.043 . 0.326 . T T T T D T 1.722 17.170 0.985 N N -0.522 1.135 -0.631 1.000 0.790 0.615 0.654 0.659 0.636 . 4.690 2.220 0.835 1.312 0.756 0.106 0.094 0.324 491 . . . . ALMS1 201 1 24 21 0.466666666666667 TRUE TRUE +ENSG00000144191.12 . BCM GRCh38.p13 chr2 98396779 98396779 + C C A Missense_Mutation SNP ENST00000272602.7 exon8 c.C1609A p.Q537K exonic ENSG00000144191.12 . nonsynonymous SNV ENSG00000144191.12:ENST00000272602.7:exon8:c.C1609A:p.Q537K 2q11.2 C3L-00369 . . . . . . . . . 13.20 T T P P D D L D D 0.740 D D D 0.602 0.686 0.941 0.272 T D D T D D 2.564 22.600 0.979 D D 0.186 3.242 0.277 3.583 1.000 0.497 0.590 0.547 0.542 . 5.420 5.420 5.852 1.023 0.599 1.000 0.993 0.966 279 Cyclic_nucleotide-binding_domain . . . CNGA3 540 1 776 509 0.396108949416342 TRUE TRUE +ENSG00000115839.18 . BCM GRCh38.p13 chr2 135135566 135135566 + G G A Missense_Mutation SNP ENST00000264158.13 exon17 c.G1557A p.M519I exonic ENSG00000115839.18 . nonsynonymous SNV ENSG00000115839.18:ENST00000264158.13:exon17:c.G1557A:p.M519I 2q21.3 C3L-00369 . . . . . . . . . 16.20 D D D D D D M T D 0.920 T T D 0.634 0.731 0.754 0.851 T D D D D D 4.007 27.000 0.998 D D 0.963 12.783 0.935 15.322 1.000 0.732 0.725 0.744 0.714 . 5.740 5.740 9.658 1.176 0.618 1.000 0.999 0.995 850 . . . . RAB3GAP1 76 0 8 5 0.384615384615385 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178539492 178539492 + T T G Missense_Mutation SNP ENST00000591111.5 exon302 c.A93650C p.K31217T exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon302:c.A93650C:p.K31217T 2q31.2 C3L-00369 . . . . . . . . . 8.17 T . D P . D N T D 0.693 T T D 0.378 0.545 0.349 0.436 D . T T D T 3.209 23.900 0.963 D D 0.357 4.090 0.410 4.426 1.000 0.563 0.577 0.609 0.636 . 5.790 4.630 6.276 1.138 0.665 1.000 0.948 0.923 423 Fibronectin_type_III . . . TTN 267 0 121 55 0.3125 TRUE NA +ENSG00000163492.15 . BCM GRCh38.p13 chr2 178918871 178918871 + C C A Missense_Mutation SNP ENST00000443758.6 exon7 c.G934T p.A312S exonic ENSG00000163492.15 . nonsynonymous SNV ENSG00000163492.15:ENST00000443758.6:exon7:c.G934T:p.A312S 2q31.2 C3L-00369 . . . . . . . . . 5.18 D D P B . N . T N 0.443 T T T 0.167 0.567 0.603 . T T T T D T 2.288 21.500 0.997 D D 0.329 3.932 0.318 3.825 1.000 0.554 0.588 0.618 0.530 . 5.720 5.720 4.860 1.026 0.599 1.000 0.020 0.649 351 . . . . CCDC141 112 1 14 11 0.44 TRUE TRUE +ENSG00000144395.18 . BCM GRCh38.p13 chr2 196646480 196646480 + T T G Missense_Mutation SNP ENST00000389175.9 exon2 c.T152G p.I51R exonic ENSG00000144395.18 . nonsynonymous SNV ENSG00000144395.18:ENST00000389175.9:exon2:c.T152G:p.I51R 2q33.1 C3L-00369 . . . . . . . . . 3.20 T T B B N D L T N 0.516 T T D 0.178 0.287 0.102 0.221 T T T T T T 1.759 17.440 0.817 D N -0.190 1.904 -0.181 1.833 0.999 0.615 0.602 0.659 0.568 . 4.190 4.190 1.332 1.127 0.651 0.962 0.938 0.586 271 . . . . CCDC150 97 0 20 4 0.166666666666667 NA TRUE +ENSG00000204186.10 . BCM GRCh38.p13 chr2 206307873 206307873 + - NA T Frame_Shift_Ins INS ENST00000374423.9 exon5 c.3346dupT p.L1116Ffs*6 exonic ENSG00000204186.10 . frameshift insertion ENSG00000204186.10:ENST00000374423.9:exon5:c.3346dupT:p.L1116Ffs*6 2q33.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZDBF2 NA NA NA NA NA NA NA +ENSG00000072195.15 . BCM GRCh38.p13 chr2 219488832 219488832 + C C T Missense_Mutation SNP ENST00000312358.12 exon34 c.C8081T p.A2694V exonic ENSG00000072195.15 . nonsynonymous SNV ENSG00000072195.15:ENST00000312358.12:exon34:c.C8081T:p.A2694V 2q35 C3L-00369 . . . . . . . . . 3.20 T T P B N D N T N 0.698 T T T 0.056 . 0.373 0.956 T T T T D T 2.367 21.900 0.998 D N -0.142 2.046 -0.023 2.281 0.928 0.696 0.563 0.723 0.542 . 4.380 4.380 3.027 1.026 0.599 0.995 0.509 0.994 108 Fibronectin_type_III . . . SPEG 193 0 540 74 0.120521172638436 TRUE NA +ENSG00000115694.15 . BCM GRCh38.p13 chr2 241501665 241501665 + C C T Missense_Mutation SNP ENST00000316586.9 exon3 c.G74A p.R25H exonic ENSG00000115694.15 . nonsynonymous SNV ENSG00000115694.15:ENST00000316586.9:exon3:c.G74A:p.R25H 2q37.3 C3L-00369 8.272e-05 0 0 0 0 0.0002 0 0 rs200593123 10.20 D D P B D D L T D 0.718 T T D 0.240 . 0.311 0.905 D T T T T D 3.033 23.500 0.990 D D -0.324 1.555 -0.349 1.466 1.000 0.707 0.702 0.723 0.714 . 3.780 1.950 5.945 1.026 0.549 1.000 0.990 0.760 982 Protein_kinase_domain;Serine/threonine_kinase_25,_catalytic_domain . . ID=COSV57263227;OCCURENCE=3(large_intestine),1(prostate) STK25 149 0 222 143 0.391780821917808 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149834 10149834 + A A - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.511delA p.K171Sfs*31 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.511delA:p.K171Sfs*31 3p25.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 451 0 79 208 0.724738675958188 TRUE TRUE +ENSG00000187091.13 . BCM GRCh38.p13 chr3 38029506 38029506 + C C T Missense_Mutation SNP ENST00000334661.4 exon1 c.G34A p.G12S exonic ENSG00000187091.13 . nonsynonymous SNV ENSG00000187091.13:ENST00000334661.4:exon1:c.G34A:p.G12S 3p22.2 C3L-00369 . . . . . . . . . 8.18 D D D B . D L T D 0.365 T T D 0.068 0.293 0.501 . . T T T D T 2.928 23.300 0.997 D N 0.296 3.758 0.276 3.580 1.000 0.726 0.476 0.594 0.604 . 3.390 3.390 2.543 0.962 0.524 0.862 0.998 0.986 509 . . . . PLCD1 208 0 147 274 0.65083135391924 TRUE NA +ENSG00000206530.11 . BCM GRCh38.p13 chr3 113427285 113427285 + G G A Missense_Mutation SNP ENST00000393845.9 exon3 c.C155T p.T52I exonic ENSG00000206530.11 . nonsynonymous SNV ENSG00000206530.11:ENST00000393845.9:exon3:c.C155T:p.T52I 3q13.2 C3L-00369 . . . . . . . . . 4.18 D D D P . N . T D 0.187 T T T 0.079 0.297 0.276 0.116 T T T T T T 1.729 17.230 0.942 N N -0.343 1.512 -0.484 1.228 0.004 0.615 0.634 0.574 0.528 . 4.430 3.560 1.496 -0.549 -0.679 0.082 0.001 0.004 208 . . . . CFAP44 128 0 21 7 0.25 TRUE TRUE +ENSG00000051341.14 . BCM GRCh38.p13 chr3 121489234 121489234 + C C T Missense_Mutation SNP ENST00000264233.6 exon16 c.G3697A p.V1233I exonic ENSG00000051341.14 . nonsynonymous SNV ENSG00000051341.14:ENST00000264233.6:exon16:c.G3697A:p.V1233I 3q13.33 C3L-00369 . . . . . . . . . 0.20 T T B B N N N T N 0.037 T T T 0.025 0.205 0.399 0.064 T T T T T T 0.095 2.046 0.944 N N -0.777 0.689 -0.723 0.867 0.018 0.651 0.654 0.651 0.655 . 5.300 3.490 0.860 0.103 -0.223 0.001 0.510 0.314 274 . . . . POLQ 85 0 9 7 0.4375 TRUE NA +ENSG00000169704.4 . BCM GRCh38.p13 chr3 129061987 129061987 + C C T Missense_Mutation SNP ENST00000307395.4 exon3 c.C248T p.T83M exonic ENSG00000169704.4 . nonsynonymous SNV ENSG00000169704.4:ENST00000307395.4:exon3:c.C248T:p.T83M 3q21.3 C3L-00369 8.42e-06 0 0 0 0 0 0 6.085e-05 rs745846700 1.20 T T P B N N L T N 0.166 T T D 0.051 0.299 0.174 0.238 T T T T T T 1.227 13.840 0.950 N N -0.655 0.891 -0.827 0.720 0.098 0.516 0.610 0.578 0.613 . 4.170 0.469 0.037 0.093 0.599 0.000 0.316 0.010 654 . . . ID=COSV100264665;OCCURENCE=1(stomach) GP9 445 0 800 506 0.387442572741194 TRUE NA +ENSG00000132463.14 . BCM GRCh38.p13 chr4 70836310 70836310 + G G T Missense_Mutation SNP ENST00000254799.11 exon2 c.C362A p.S121Y exonic ENSG00000132463.14 . nonsynonymous SNV ENSG00000132463.14:ENST00000254799.11:exon2:c.C362A:p.S121Y 4q13.3 C3L-00369 . . . . . . . . . 5.20 D D B B N D L T N 0.391 T T T 0.088 0.295 0.199 0.046 D T T T T T 2.880 23.200 0.984 D N -0.338 1.524 -0.203 1.779 1.000 0.737 0.581 0.733 0.613 . 4.510 2.740 1.910 1.164 0.662 0.974 0.995 0.984 867 . . . . GRSF1 87 0 16 6 0.272727272727273 TRUE TRUE +ENSG00000172955.17 . BCM GRCh38.p13 chr4 99213678 99213678 + G G T Missense_Mutation SNP ENST00000237653.11 exon3 c.C190A p.P64T exonic ENSG00000172955.17 . nonsynonymous SNV ENSG00000172955.17:ENST00000237653.11:exon3:c.C190A:p.P64T 4q23 C3L-00369 . . . . . . . . . 13.20 D D D D D D M T D 0.861 T T T 0.385 0.829 0.527 0.532 T T D T D D 2.320 21.700 0.996 D D 0.414 4.429 0.169 3.036 1.000 0.487 0.574 0.547 0.564 . 4.680 3.510 5.731 0.020 0.435 1.000 0.002 0.371 720 Polyketide_synthase,_enoylreductase_domain;Alcohol_dehydrogenase,_N-terminal . . . ADH6 116 0 34 16 0.32 TRUE TRUE +ENSG00000145390.11 . BCM GRCh38.p13 chr4 119259846 119259846 + G G A Missense_Mutation SNP ENST00000450251.5 exon6 c.G596A p.R199K exonic ENSG00000145390.11 . nonsynonymous SNV ENSG00000145390.11:ENST00000450251.5:exon6:c.G596A:p.R199K 4q26 C3L-00369 . . . . . . . . . 4.20 T T P B D D N T N 0.236 T T T 0.096 0.441 0.551 0.214 T T T T D T 2.524 22.500 0.978 D N 0.173 3.184 0.293 3.674 0.374 0.732 0.588 0.651 0.728 . 5.850 5.020 5.045 1.176 0.676 1.000 0.977 0.973 539 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP53 94 0 8 6 0.428571428571429 TRUE TRUE +ENSG00000196159.12 . BCM GRCh38.p13 chr4 125316514 125316514 + C C T Missense_Mutation SNP ENST00000674496.1 exon1 c.C103T p.P35S exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon1:c.C103T:p.P35S 4q28.1 C3L-00369 1.678e-05 0 0 0 0 3.048e-05 0 0 rs745757322 3.19 T D B B . N N T N 0.072 T T D 0.183 0.483 0.217 0.163 T T T T T T 2.017 19.380 0.995 D N -0.590 1.005 -0.540 1.139 1.000 0.623 0.563 0.378 0.373 . 4.880 4.040 1.390 1.026 0.599 0.991 0.148 0.579 932 . . . . FAT4 120 0 288 182 0.387234042553191 TRUE NA +ENSG00000121210.16 . BCM GRCh38.p13 chr4 153612330 153612330 + C C T Missense_Mutation SNP ENST00000409663.7 exon26 c.C3494T p.S1165L exonic ENSG00000121210.16 . nonsynonymous SNV ENSG00000121210.16:ENST00000409663.7:exon26:c.C3494T:p.S1165L 4q31.3 C3L-00369 . . . . . . . . . 7.20 D D B B N D L T D 0.176 T T T 0.027 0.241 0.043 0.096 T T T T D D 2.498 22.400 0.997 D N -0.148 2.028 -0.019 2.294 1.000 0.732 0.725 0.744 0.613 . 5.750 4.910 2.550 1.026 0.599 0.998 0.990 0.997 911 . . . . TMEM131L 70 0 8 7 0.466666666666667 TRUE TRUE +ENSG00000132837.15 . BCM GRCh38.p13 chr5 79030894 79030894 + - NA TA Frame_Shift_Ins INS ENST00000255189.8 exon10 c.1621_1622insTA p.N541Ifs*28 exonic ENSG00000132837.15 . frameshift insertion ENSG00000132837.15:ENST00000255189.8:exon10:c.1621_1622insTA:p.N541Ifs*28 5q14.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMGDH NA NA NA NA NA NA NA +ENSG00000145817.17 . BCM GRCh38.p13 chr5 144165472 144165472 + G G C Missense_Mutation SNP ENST00000274496.10 exon3 c.C243G p.F81L exonic ENSG00000145817.17 . nonsynonymous SNV ENSG00000145817.17:ENST00000274496.10:exon3:c.C243G:p.F81L 5q31.3 C3L-00369 . . . . . . . . . 2.20 T T B B N D L T N 0.246 T T T 0.052 0.184 0.123 0.135 T T T T T T 1.487 15.650 0.914 D N -0.461 1.255 -0.306 1.551 0.993 0.706 0.725 0.710 0.714 . 6.020 2.170 0.353 1.176 0.676 0.924 1.000 0.988 817 . . . . YIPF5 188 0 41 39 0.4875 TRUE TRUE +ENSG00000161021.13 . BCM GRCh38.p13 chr5 179768920 179768920 + C C T Missense_Mutation SNP ENST00000292599.4 exon3 c.C1802T p.S601F exonic ENSG00000161021.13 . nonsynonymous SNV ENSG00000161021.13:ENST00000292599.4:exon3:c.C1802T:p.S601F 5q35.3 C3L-00369 . . . . . . . . . 12.19 D D D P D D M T N 0.713 T T D 0.327 0.288 0.594 0.577 T D D D D . 3.375 24.300 0.999 D N 0.533 5.305 0.430 4.580 1.000 0.778 0.725 0.854 0.714 . 4.590 4.590 5.776 1.026 0.599 0.990 0.082 0.043 883 . . . . MAML1 380 0 679 427 0.386075949367089 TRUE TRUE +ENSG00000112273.7 . BCM GRCh38.p13 chr6 22569900 22569900 + C C G Missense_Mutation SNP ENST00000510882.4 exon1 c.C325G p.P109A exonic ENSG00000112273.7 . nonsynonymous SNV ENSG00000112273.7:ENST00000510882.4:exon1:c.C325G:p.P109A 6p22.3 C3L-00369 . . . . . . . . . 1.20 T T P B N N M T N 0.149 T T T 0.093 0.232 0.375 0.521 T T T T T T 0.194 3.056 0.754 N N -0.531 1.116 -0.704 0.894 0.000 0.554 0.588 0.578 0.564 . 3.130 2.260 -1.547 0.937 0.463 0.000 0.017 0.014 895 . . . . HDGFL1 134 1 205 12 0.0552995391705069 NA TRUE +ENSG00000064999.15 . BCM GRCh38.p13 chr6 34982810 34982810 + A A C Missense_Mutation SNP ENST00000360359.5 exon5 c.A791C p.Q264P exonic ENSG00000064999.15 . nonsynonymous SNV ENSG00000064999.15:ENST00000360359.5:exon5:c.A791C:p.Q264P 6p21.31 C3L-00369 . . . . . . . . . 12.20 D D D D D D L T N 0.711 T T T 0.492 0.519 0.886 1.998 T T D D D D 4.040 27.300 0.980 D D 0.712 7.294 0.714 8.032 1.000 0.719 0.695 0.723 0.723 . 5.850 5.850 5.623 1.312 0.756 1.000 1.000 1.000 401 Ankyrin_repeat-containing_domain . . . ANKS1A 184 0 306 36 0.105263157894737 TRUE TRUE +ENSG00000118495.20 . BCM GRCh38.p13 chr6 143941834 143941847 + TATTGCAAAAACCT TATTGCAAAAACCT - Frame_Shift_Del DEL ENST00000674357.1 exon8 c.969_982del p.K323Nfs*5 exonic ENSG00000118495.20 . frameshift deletion ENSG00000118495.20:ENST00000674357.1:exon8:c.969_982del:p.K323Nfs*5 6q24.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLAGL1 316 0 140 44 0.239130434782609 TRUE TRUE +ENSG00000122550.18 . BCM GRCh38.p13 chr7 23106076 23106076 + A A T Missense_Mutation SNP ENST00000339077.10 exon1 c.A50T p.K17I exonic ENSG00000122550.18 . nonsynonymous SNV ENSG00000122550.18:ENST00000339077.10:exon1:c.A50T:p.K17I 7p15.3 C3L-00369 . . . . . . . . . 13.20 D D D D D D L T N 0.506 T T D 0.455 0.410 0.861 0.631 T T D D D D 4.471 32 0.993 D D 0.319 3.878 0.348 4.008 1.000 0.442 0.522 0.522 0.562 . 4.970 3.820 6.619 1.312 0.691 1.000 0.996 0.998 792 . . . . KLHL7 488 1 693 420 0.377358490566038 TRUE TRUE +ENSG00000002726.20 . BCM GRCh38.p13 chr7 150857969 150857969 + G G A Missense_Mutation SNP ENST00000493429.5 exon4 c.G1499A p.R500H exonic ENSG00000002726.20 . nonsynonymous SNV ENSG00000002726.20:ENST00000493429.5:exon4:c.G1499A:p.R500H 7q36.1 C3L-00369 1.765e-05 0 0 0 0 3.116e-05 0 0 rs759480873 5.20 T T B B D D M T D 0.470 T T T 0.094 0.638 0.424 0.278 T T T T T T 2.368 21.900 0.998 D N 0.083 2.821 0.207 3.219 0.942 0.578 0.590 0.608 0.542 . 5.260 5.260 2.569 1.176 0.676 0.978 0.206 0.963 802 Copper_amine_oxidase,_catalytic_domain . . ID=COSV62870757;OCCURENCE=1(large_intestine) AOC1 46 0 105 74 0.41340782122905 TRUE TRUE +ENSG00000146909.8 . BCM GRCh38.p13 chr7 156964020 156964020 + T T C Missense_Mutation SNP ENST00000275820.4 exon7 c.T2027C p.L676P exonic ENSG00000146909.8 . nonsynonymous SNV ENSG00000146909.8:ENST00000275820.4:exon7:c.T2027C:p.L676P 7q36.3 C3L-00369 . . . . . . . . . 14.20 D D P P D D H T D 0.977 D T D 0.753 0.870 0.808 0.470 T T D D D D 3.956 26.700 0.999 D D 0.699 7.111 0.572 5.890 1.000 0.707 0.725 0.725 0.714 . 4.340 4.340 7.654 1.123 0.589 1.000 0.805 0.396 809 Initiation_factor_eIF-4_gamma,_MA3 . . . NOM1 52 0 13 17 0.566666666666667 TRUE TRUE +ENSG00000154319.16 . BCM GRCh38.p13 chr8 11444166 11444166 + C C A Missense_Mutation SNP ENST00000284486.9 exon2 c.G246T p.L82F exonic ENSG00000154319.16 . nonsynonymous SNV ENSG00000154319.16:ENST00000284486.9:exon2:c.G246T:p.L82F 8p23.1 C3L-00369 . . . . . . . . . 2.20 D T B B N N M T N 0.105 T T T 0.040 0.257 0.030 0.010 T T T T T T -0.103 0.816 0.979 N N -0.963 0.444 -1.030 0.452 0.989 0.615 0.634 0.659 0.586 . 4.780 -0.405 -0.699 -0.255 -0.176 0.000 0.000 0.007 951 . . . . FAM167A 184 0 268 38 0.124183006535948 TRUE NA +ENSG00000198791.12 . BCM GRCh38.p13 chr8 17230787 17230787 + G G T Missense_Mutation SNP ENST00000361272.9 exon7 c.C791A p.S264Y exonic ENSG00000198791.12 . nonsynonymous SNV ENSG00000198791.12:ENST00000361272.9:exon7:c.C791A:p.S264Y 8p22 C3L-00369 . . . . . . . . . 11.20 D D P B D D L T N 0.599 T T T 0.398 0.337 0.626 1.568 D T D D D D 3.377 24.300 0.977 D D 0.531 5.287 0.608 6.320 1.000 0.707 0.725 0.702 0.711 . 5.000 5.000 9.597 1.176 0.676 1.000 1.000 1.000 813 . . . . CNOT7 119 0 8 10 0.555555555555556 NA TRUE +ENSG00000205038.12 . BCM GRCh38.p13 chr8 109419104 109419104 + T T G Missense_Mutation SNP ENST00000378402.10 exon22 c.T2368G p.Y790D exonic ENSG00000205038.12 . nonsynonymous SNV ENSG00000205038.12:ENST00000378402.10:exon22:c.T2368G:p.Y790D 8q23.1 C3L-00369 . . . . . . . . . 12.20 T D B B D N M D D 0.843 D D D 0.571 0.633 0.316 0.248 T T D D D T 2.752 22.900 0.987 D N 0.095 2.868 0.229 3.326 0.803 0.487 0.574 0.492 0.564 . 5.810 5.810 4.541 1.138 0.665 0.999 0.973 0.870 693 . . . . PKHD1L1 49 0 8 5 0.384615384615385 TRUE NA +ENSG00000184434.8 . BCM GRCh38.p13 chr9 26995580 26995580 + C C T Missense_Mutation SNP ENST00000380055.6 exon5 c.G1054A p.D352N exonic ENSG00000184434.8 . nonsynonymous SNV ENSG00000184434.8:ENST00000380055.6:exon5:c.G1054A:p.D352N 9p21.2 C3L-00369 . . . . . . . . . 10.20 D D D P D D M T N 0.185 T T D 0.208 0.482 0.910 0.143 T T T T D T 3.863 26.100 0.999 D D 0.579 5.720 0.612 6.372 1.000 0.487 0.547 0.547 0.564 . 5.550 5.550 5.726 -0.232 0.549 1.000 0.956 0.981 493 . . . . LRRC19 65 0 6 6 0.5 TRUE NA +ENSG00000119411.11 . BCM GRCh38.p13 chr9 113369726 113369726 + G G T Missense_Mutation SNP ENST00000374183.5 exon6 c.G793T p.G265C exonic ENSG00000119411.11 . nonsynonymous SNV ENSG00000119411.11:ENST00000374183.5:exon6:c.G793T:p.G265C 9q32 C3L-00369 . . . . . . . . . 4.20 T T B B N D L T N 0.145 T T T 0.022 0.325 0.246 0.074 T T T T D T 2.345 21.800 0.993 D D -0.008 2.485 0.132 2.868 1.000 0.554 0.588 0.496 0.613 . 5.790 4.890 2.182 1.176 0.676 1.000 0.961 0.969 862 0.000 . . . BSPRY 227 0 411 294 0.417021276595745 TRUE TRUE +ENSG00000107959.16 . BCM GRCh38.p13 chr10 3144292 3144292 + - NA GTG In_Frame_Ins INS ENST00000224949.9 exon22 c.2531_2532insCAC p.M844delinsIT exonic ENSG00000107959.16 . nonframeshift insertion ENSG00000107959.16:ENST00000224949.9:exon22:c.2531_2532insCAC:p.M844delinsIT 10p15.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PITRM1 NA NA NA NA NA NA NA +ENSG00000178217.14 . BCM GRCh38.p13 chr10 80644044 80644044 + C C A Missense_Mutation SNP ENST00000646907.1 exon8 c.C1261A p.Q421K exonic ENSG00000178217.14 . nonsynonymous SNV ENSG00000178217.14:ENST00000646907.1:exon8:c.C1261A:p.Q421K 10q23.1 C3L-00369 . . . . . . . . . 6.17 D D B B . D . T N 0.493 T T T 0.125 0.199 0.548 0.715 T . T T D T 2.946 23.300 0.994 D D 0.208 3.341 0.341 3.965 0.998 0.487 0.590 0.574 0.542 . 5.050 5.050 5.911 1.015 0.549 1.000 1.000 0.980 971 . . . . SH2D4B 177 1 29 10 0.256410256410256 TRUE TRUE +ENSG00000108001.14 . BCM GRCh38.p13 chr10 129963504 129963504 + C C - Frame_Shift_Del DEL ENST00000355311.10 exon2 c.154delG p.A52Rfs*80 exonic ENSG00000108001.14 . frameshift deletion ENSG00000108001.14:ENST00000355311.10:exon2:c.154delG:p.A52Rfs*80 10q26.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EBF3 120 0 177 130 0.423452768729642 TRUE TRUE +ENSG00000129965.15 . BCM GRCh38.p13 chr11 2149235 2149235 + C C T Missense_Mutation SNP ENST00000643349.1 exon1 c.G145A p.G49R exonic ENSG00000129965.15;ENSG00000284779.2 . nonsynonymous SNV ENSG00000284779.2:ENST00000643349.1:exon1:c.G145A:p.G49R,ENSG00000129965.15:ENST00000397270.1:exon3:c.G298A:p.G100R 11p15.5 C3L-00369 1.668e-05 0 0 0 0 3.029e-05 0 0 rs753511563 4.19 T D B B N N N D N 0.211 T D D 0.192 0.459 0.319 0.311 . T T T T T -0.434 0.163 0.591 N N -1.697 0.037 -1.803 0.033 1.000 0.598 0.563 0.596 0.530 . 3.080 -3.990 -1.533 -2.550 -2.476 0.000 0.000 0.000 988 Insulin-like . . . INS-IGF2 437 0 801 537 0.401345291479821 TRUE NA +ENSG00000236287.8 . BCM GRCh38.p13 chr11 10854693 10854693 + C C G Missense_Mutation SNP ENST00000413761.7 exon3 c.G253C p.G85R exonic ENSG00000236287.8 . nonsynonymous SNV ENSG00000236287.8:ENST00000413761.7:exon3:c.G253C:p.G85R 11p15.4 C3L-00369 . . . . . . . . . 3.20 D D B B N N N T D 0.187 T T T 0.039 0.218 0.124 . T T T T T T 0.692 8.383 0.821 N N -1.087 0.318 -1.040 0.441 1.000 0.707 0.725 0.702 0.714 . 4.290 -2.350 -0.698 -0.880 -0.181 0.015 0.851 0.891 587 . . . . ZBED5 128 0 24 13 0.351351351351351 TRUE TRUE +ENSG00000173898.13 . BCM GRCh38.p13 chr11 66687145 66687145 + C C T Missense_Mutation SNP ENST00000533211.5 exon36 c.G6745A p.V2249I exonic ENSG00000173898.13 . nonsynonymous SNV ENSG00000173898.13:ENST00000533211.5:exon36:c.G6745A:p.V2249I 11q13.2 C3L-00369 4.988e-05 0 0.0005 0 0 0 0 0 rs774816936 6.20 T D D D N D L T N 0.216 T T T 0.159 0.592 0.392 0.352 T T T T T D 3.136 23.700 0.998 D N 0.540 5.364 0.496 5.123 1.000 0.672 0.588 0.702 0.655 . 5.280 4.380 2.548 1.026 0.599 0.999 0.995 0.992 216 Pleckstrin_homology_domain;Pleckstrin_homology_domain,_spectrin-type . . . SPTBN2 315 0 549 334 0.378255945639864 TRUE NA +ENSG00000137745.12 . BCM GRCh38.p13 chr11 102945736 102945736 + T T A Missense_Mutation SNP ENST00000260302.8 exon9 c.A1225T p.N409Y exonic ENSG00000137745.12 . nonsynonymous SNV ENSG00000137745.12:ENST00000260302.8:exon9:c.A1225T:p.N409Y 11q22.2 C3L-00369 . . . . . . . . . 7.20 D D P B D N M T D 0.480 T T T 0.159 0.364 0.672 0.231 T T T T D T 3.591 25.000 0.986 D N 0.246 3.515 0.203 3.196 0.692 0.487 0.574 0.547 0.613 . 6.160 6.160 3.158 1.138 0.665 0.773 0.988 0.989 335 Hemopexin-like_domain . . . MMP13 72 0 23 5 0.178571428571429 NA TRUE +ENSG00000110723.12 . BCM GRCh38.p13 chr11 108512819 108512819 + A A C Missense_Mutation SNP ENST00000265843.9 exon6 c.T2688G p.D896E exonic ENSG00000110723.12 . nonsynonymous SNV ENSG00000110723.12:ENST00000265843.9:exon6:c.T2688G:p.D896E 11q22.3 C3L-00369 . . . . . . . . . 1.17 T T . . N N . T N 0.050 T T T 0.077 0.155 0.151 0.037 T T T T D T 0.845 9.851 0.964 N N -0.252 1.735 -0.347 1.470 1.000 0.651 0.588 0.651 0.542 . 5.740 4.610 1.873 1.312 0.756 0.003 0.805 0.275 819 . . . . EXPH5 103 0 16 11 0.407407407407407 TRUE TRUE +ENSG00000111249.14 . BCM GRCh38.p13 chr12 111214218 111214218 + G G A Missense_Mutation SNP ENST00000261726.11 exon2 c.G82A p.A28T exonic ENSG00000111249.14 . nonsynonymous SNV ENSG00000111249.14:ENST00000261726.11:exon2:c.G82A:p.A28T 12q24.11 C3L-00369 3.346e-05 0.0001 8.657e-05 0 0 3.035e-05 0 0 rs374906688 15.20 D D D D D D M T D 0.828 T T T 0.267 . 0.633 1.658 D D T D D D 4.062 27.400 0.999 D D 0.754 7.948 0.780 9.570 0.982 0.615 0.590 0.659 0.564 . 5.610 5.610 7.572 1.176 0.676 1.000 0.998 0.995 291 . . . ID=COSV55634371;OCCURENCE=1(large_intestine),1(urinary_tract) CUX2 100 0 23 13 0.361111111111111 TRUE TRUE +ENSG00000089041.17 . BCM GRCh38.p13 chr12 121184407 121184407 + G G A Missense_Mutation SNP ENST00000328963.10 exon13 c.G1393A p.E465K exonic ENSG00000089041.17 . nonsynonymous SNV ENSG00000089041.17:ENST00000328963.10:exon13:c.G1393A:p.E465K 12q24.31 C3L-00369 8.254e-06 0 0 0 0 0 0 6.059e-05 rs769375378 1.17 . T B B N N M . . 0.133 T T T 0.201 0.198 0.423 . T T T T T T 0.454 6.021 0.948 N N -0.739 0.748 -0.755 0.821 0.985 0.554 0.588 0.550 0.568 . 5.210 3.310 0.407 0.212 0.613 0.000 0.001 0.003 527 . . . . P2RX7 202 0 529 48 0.0831889081455806 TRUE NA +ENSG00000181234.9 . BCM GRCh38.p13 chr12 128705504 128705504 + G G A Missense_Mutation SNP ENST00000435159.2 exon9 c.G2536A p.V846M exonic ENSG00000181234.9 . nonsynonymous SNV ENSG00000181234.9:ENST00000435159.2:exon9:c.G2536A:p.V846M 12q24.33 C3L-00369 5.444e-05 0 0 0 0 0.0001 0 0 rs780371502 0.20 T T B B N N N T N 0.028 T T T 0.017 . 0.043 0.095 T T T T T T 0.301 4.305 0.393 N N -1.324 0.152 -1.345 0.181 0.000 0.487 0.574 0.547 0.613 . 4.780 -1.170 0.644 -0.148 -0.755 0.000 0.001 0.011 994 . . . . TMEM132C 93 0 235 155 0.397435897435897 TRUE NA +ENSG00000090615.15 . BCM GRCh38.p13 chr12 132808543 132808543 + G G T Missense_Mutation SNP ENST00000204726.8 exon5 c.C526A p.Q176K exonic ENSG00000090615.15 . nonsynonymous SNV ENSG00000090615.15:ENST00000204726.8:exon5:c.C526A:p.Q176K 12q24.33 C3L-00369 . . . . . . . . . 7.20 D T P B D D M T N 0.361 T T T 0.097 0.275 0.351 0.454 T T T T D T 2.685 22.800 0.988 D D 0.484 4.913 0.561 5.766 1.000 0.707 0.702 0.725 0.714 . 5.430 5.430 6.569 1.176 0.676 1.000 0.999 0.999 952 . . . . GOLGA3 92 1 98 72 0.423529411764706 TRUE TRUE +ENSG00000197168.13 . BCM GRCh38.p13 chr13 52075802 52075802 + A A T Missense_Mutation SNP ENST00000355568.8 exon20 c.T1753A p.L585I exonic ENSG00000197168.13 . nonsynonymous SNV ENSG00000197168.13:ENST00000355568.8:exon20:c.T1753A:p.L585I 13q14.3 C3L-00369 . . . . . . . . . 3.20 D T P P N N M T N 0.252 T T T 0.057 0.246 0.560 0.388 T T T T D T 2.726 22.900 0.994 N N -0.053 2.329 -0.153 1.902 0.000 0.487 0.574 0.547 0.542 . 5.950 1.120 0.545 0.252 0.639 0.998 0.152 0.566 656 . . . . NEK5 45 0 9 6 0.4 TRUE NA +ENSG00000088387.19 . BCM GRCh38.p13 chr13 98955488 98955488 + T T G Missense_Mutation SNP ENST00000652315.1 exon2 c.A193C p.I65L exonic ENSG00000088387.19 . nonsynonymous SNV ENSG00000088387.19:ENST00000652315.1:exon2:c.A193C:p.I65L 13q32.3 C3L-00369 . . . . . . . . . 7.19 T T B B D D . T N 0.541 T T D 0.163 0.431 0.501 0.957 T T T T D D 2.368 21.900 0.988 D D 0.397 4.326 0.484 5.016 1.000 0.707 0.588 0.659 0.714 . 5.530 5.530 7.438 1.138 0.665 1.000 0.998 0.997 958 Dedicator_of_cytokinesis_C/D,_N-terminal . . . DOCK9 141 0 33 12 0.266666666666667 TRUE TRUE +ENSG00000134899.22 . BCM GRCh38.p13 chr13 102868132 102868132 + - NA AT Nonsense_Mutation INS ENST00000652225.2 exon12 c.2553_2554insAT p.N853* exonic ENSG00000134899.22;ENSG00000270181.3 . stopgain ENSG00000134899.22:ENST00000652225.2:exon12:c.2553_2554insAT:p.N853*,ENSG00000270181.3:ENST00000639435.1:exon22:c.3915_3916insAT:p.N1307* 13q33.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERCC5 NA NA NA NA NA NA NA +ENSG00000157326.19 . BCM GRCh38.p13 chr14 23953862 23953862 + C C G Missense_Mutation SNP ENST00000313250.10 exon1 c.C74G p.T25S exonic ENSG00000157326.19 . nonsynonymous SNV ENSG00000157326.19:ENST00000313250.10:exon1:c.C74G:p.T25S 14q11.2 C3L-00369 . . . . . . . . . 2.19 T T B B N N L D N 0.138 T T D 0.115 0.218 0.903 0.240 T T T T T . 1.634 16.590 0.903 N N -0.590 1.006 -0.533 1.150 1.000 0.442 0.522 0.522 0.562 . 3.540 2.640 0.460 0.015 0.329 0.003 0.002 0.033 676 . . . . DHRS4 196 0 376 153 0.289224952741021 TRUE TRUE +ENSG00000186648.15 . BCM GRCh38.p13 chr14 24066419 24066428 + GGCAGCACCC GGCAGCACCC - Frame_Shift_Del DEL ENST00000342740.6 exon35 c.3547_3556del p.G1183Rfs*42 exonic ENSG00000186648.15 . frameshift deletion ENSG00000186648.15:ENST00000342740.6:exon35:c.3547_3556del:p.G1183Rfs*42 14q11.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CARMIL3 184 0 337 90 0.210772833723653 TRUE TRUE +ENSG00000168175.15 . BCM GRCh38.p13 chr14 55063138 55063138 + C C T Missense_Mutation SNP ENST00000395468.9 exon3 c.C539T p.P180L exonic ENSG00000168175.15 . nonsynonymous SNV ENSG00000168175.15:ENST00000395468.9:exon3:c.C539T:p.P180L 14q22.3 C3L-00369 . . . . . . . . . 8.19 D D D P N D N . D 0.398 T T T 0.121 0.360 0.261 0.112 T T T T D T 3.366 24.300 0.996 D D 0.386 4.258 0.447 4.712 1.000 0.707 0.702 0.702 0.714 . 4.950 4.950 3.729 1.026 0.599 1.000 0.996 0.967 887 . . . . MAPK1IP1L 163 0 294 236 0.445283018867925 NA TRUE +ENSG00000133962.8 . BCM GRCh38.p13 chr14 91580982 91580982 + C C T Nonsense_Mutation SNP ENST00000256343.8 exon27 c.G3258A p.W1086X exonic ENSG00000133962.8 . stopgain ENSG00000133962.8:ENST00000256343.8:exon27:c.G3258A:p.W1086X 14q32.12 C3L-00369 . . . . . . . . . 3.6 . . . . N D . . . 0.036 . . . . . . . . . D D . . 6.341 35 0.943 N N -0.095 2.192 -0.402 1.369 0.984 0.616 0.590 0.618 0.542 . 5.630 2.730 1.676 -0.320 -0.224 0.005 0.000 0.003 889 . . . . CATSPERB 260 0 62 22 0.261904761904762 TRUE TRUE +ENSG00000214013.9 . BCM GRCh38.p13 chr15 42329408 42329408 + - NA G Frame_Shift_Ins INS ENST00000318010.12 exon14 c.1604dupG p.E536Gfs*26 exonic ENSG00000214013.9 . frameshift insertion ENSG00000214013.9:ENST00000318010.12:exon14:c.1604dupG:p.E536Gfs*26 15q15.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GANC NA NA NA NA NA NA NA +ENSG00000103994.17 . BCM GRCh38.p13 chr15 42451795 42451795 + T T - Frame_Shift_Del DEL ENST00000263805.8 exon2 c.408delA p.D137Mfs*15 exonic ENSG00000103994.17 . frameshift deletion ENSG00000103994.17:ENST00000263805.8:exon2:c.408delA:p.D137Mfs*15 15q15.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF106 229 0 63 43 0.405660377358491 TRUE TRUE +ENSG00000223572.10 . BCM GRCh38.p13 chr15 43699031 43699031 + G G A Missense_Mutation SNP ENST00000413453.7 exon9 c.G1196A p.R399H exonic ENSG00000223572.10 . nonsynonymous SNV ENSG00000223572.10:ENST00000413453.7:exon9:c.G1196A:p.R399H 15q15.3 C3L-00369 0.0001 0 0 0 0 1.499e-05 0 0.0010 rs556793318 5.17 D D . . D D . T N 0.507 T T T 0.106 . 0.469 0.325 T T T T T T 2.574 22.600 0.991 D N 0.078 2.799 0.079 2.649 0.000 0.732 0.590 0.744 0.530 . 3.710 2.780 2.849 1.063 0.453 1.000 1.000 0.996 7 ATP:guanido_phosphotransferase,_catalytic_domain . . ID=COSV63256670;OCCURENCE=1(large_intestine),4(central_nervous_system),1(lung) CKMT1A 215 1 116 44 0.275 NA TRUE +ENSG00000103707.10 . BCM GRCh38.p13 chr15 65026847 65026847 + T T G Missense_Mutation SNP ENST00000220058.9 exon2 c.A403C p.I135L exonic ENSG00000103707.10 . nonsynonymous SNV ENSG00000103707.10:ENST00000220058.9:exon2:c.A403C:p.I135L 15q22.31 C3L-00369 . . . . . . . . . 8.19 T T P P D D N T N 0.633 T T D 0.417 0.695 0.762 0.470 T D D T D . 3.845 26.100 0.992 D D 0.035 2.637 0.178 3.076 1.000 0.732 0.744 0.710 0.728 . 5.080 5.080 6.638 1.118 0.609 1.000 1.000 0.997 303 Formyl_transferase,_N-terminal . . . MTFMT 120 0 43 5 0.104166666666667 NA TRUE +ENSG00000188779.12 . BCM GRCh38.p13 chr15 67826837 67826837 + C C T Missense_Mutation SNP ENST00000380035.3 exon2 c.C1009T p.P337S exonic ENSG00000188779.12 . nonsynonymous SNV ENSG00000188779.12:ENST00000380035.3:exon2:c.C1009T:p.P337S 15q23 C3L-00369 . . . . . . . . . 3.17 T T . . N D N T N 0.365 T T D 0.060 . 0.328 . . T T T T T 1.410 15.150 0.998 D N -0.292 1.633 -0.189 1.812 1.000 0.598 0.627 0.607 0.639 . 3.760 2.820 2.700 0.882 0.522 0.727 0.917 0.726 339 . . . . SKOR1 84 0 209 15 0.0669642857142857 TRUE TRUE +ENSG00000136371.11 . BCM GRCh38.p13 chr15 79845314 79845314 + T T C Missense_Mutation SNP ENST00000258874.4 exon3 c.A508G p.T170A exonic ENSG00000136371.11;ENSG00000259332.3 . nonsynonymous SNV ENSG00000136371.11:ENST00000258874.4:exon3:c.A508G:p.T170A,ENSG00000259332.3:ENST00000479961.1:exon4:c.A436G:p.T146A 15q25.1 C3L-00369 . . . . . . . . . 11.20 T T D D D D M T D 0.693 T T D 0.318 0.713 0.673 0.858 T T T T D D 3.858 26.100 0.997 D D 0.521 5.199 0.494 5.101 1.000 0.707 0.725 0.659 0.668 . 6.030 4.890 7.291 1.118 0.665 1.000 0.134 0.737 889 . . . . MTHFS 383 0 243 212 0.465934065934066 TRUE TRUE +ENSG00000126602.11 . BCM GRCh38.p13 chr16 3679771 3679771 + G G T Missense_Mutation SNP ENST00000246957.10 exon5 c.C491A p.T164K exonic ENSG00000126602.11 . nonsynonymous SNV ENSG00000126602.11:ENST00000246957.10:exon5:c.C491A:p.T164K 16p13.3 C3L-00369 . . . . . . . . . 15.20 D D P P D D M T D 0.777 D D D 0.747 0.579 0.740 0.057 T D D D D D 3.816 25.900 0.992 D N 0.548 5.435 0.491 5.074 0.011 0.707 0.725 0.725 0.714 . 5.260 4.290 4.408 1.137 0.676 1.000 0.997 0.886 641 Histidine_kinase/HSP90-like_ATPase;Heat_shock_protein_Hsp90,_N-terminal . . . TRAP1 167 1 364 200 0.354609929078014 TRUE TRUE +ENSG00000177200.17 . BCM GRCh38.p13 chr16 53318284 53318284 + A A C Missense_Mutation SNP ENST00000447540.5 exon37 c.A7657C p.N2553H exonic ENSG00000177200.17 . nonsynonymous SNV ENSG00000177200.17:ENST00000447540.5:exon37:c.A7657C:p.N2553H 16q12.2 C3L-00369 . . . . . . . . . 13.20 D D D D D D L T D 0.637 T T D 0.326 0.306 0.743 0.499 D T T T D D 3.946 26.600 0.995 D D 0.561 5.551 0.536 5.502 1.000 0.707 0.725 0.651 0.711 . 5.610 5.610 8.889 1.312 0.756 1.000 0.998 0.997 203 . . . . CHD9 112 0 24 13 0.351351351351351 TRUE TRUE +ENSG00000159753.14 . BCM GRCh38.p13 chr16 67649524 67649524 + T T G Missense_Mutation SNP ENST00000334583.11 exon20 c.T1824G p.N608K exonic ENSG00000159753.14 . nonsynonymous SNV ENSG00000159753.14:ENST00000334583.11:exon20:c.T1824G:p.N608K 16q22.1 C3L-00369 . . . . . . . . . 6.19 D T P B D D . T D 0.711 T T D 0.253 0.643 0.436 2.064 T T T T D T 2.262 21.300 0.994 N N -0.318 1.571 -0.413 1.349 1.000 0.742 0.644 0.775 0.621 . 5.090 -0.063 -0.340 0.176 -0.133 0.182 0.998 0.986 45 . . . . CARMIL2 232 1 450 316 0.412532637075718 TRUE TRUE +ENSG00000221882.3 . BCM GRCh38.p13 chr17 3278162 3278164 + ACA ACA - In_Frame_Del DEL ENST00000408891.2 exon1 c.772_774del p.C258del exonic ENSG00000221882.3 . nonframeshift deletion ENSG00000221882.3:ENST00000408891.2:exon1:c.772_774del:p.C258del 17p13.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR3A2 271 0 194 103 0.346801346801347 TRUE TRUE +ENSG00000188176.12 . BCM GRCh38.p13 chr17 4597285 4597285 + G G T Missense_Mutation SNP ENST00000389313.9 exon7 c.G1221T p.Q407H exonic ENSG00000188176.12 . nonsynonymous SNV ENSG00000188176.12:ENST00000389313.9:exon7:c.G1221T:p.Q407H 17p13.2 C3L-00369 . . . . . . . . . 7.19 D D D P . N L T N 0.323 T T D 0.234 0.477 0.745 1.075 T T T T D D 3.368 24.300 0.997 D N 0.246 3.514 0.242 3.395 0.003 0.646 0.590 0.645 0.563 . 5.240 3.090 0.234 0.242 0.672 0.984 0.949 0.810 706 Calponin_homology_domain . . . SMTNL2 159 0 302 194 0.391129032258065 TRUE TRUE +ENSG00000161973.11 . BCM GRCh38.p13 chr17 8735161 8735161 + C C T Missense_Mutation SNP ENST00000293845.8 exon6 c.G808A p.V270M exonic ENSG00000161973.11 . nonsynonymous SNV ENSG00000161973.11:ENST00000293845.8:exon6:c.G808A:p.V270M 17p13.1 C3L-00369 . . . . . . . . . 10.20 D D D D D D M T D 0.597 T T T 0.206 0.535 0.265 1.040 T T T T D D 3.347 24.300 0.999 N N 0.483 4.908 0.416 4.470 0.001 0.497 0.590 0.547 0.542 . 5.110 5.110 1.482 1.026 0.599 0.075 0.999 0.990 798 . . . . CCDC42 245 0 486 191 0.282127031019202 TRUE NA +ENSG00000006744.19 . BCM GRCh38.p13 chr17 13015796 13015796 + T T G Missense_Mutation SNP ENST00000338034.9 exon4 c.A404C p.K135T exonic ENSG00000006744.19 . nonsynonymous SNV ENSG00000006744.19:ENST00000338034.9:exon4:c.A404C:p.K135T 17p12 C3L-00369 . . . . . . . . . 10.20 D D D P D D M T N 0.429 T T D 0.148 0.403 0.867 0.468 T T T T D D 3.134 23.700 0.967 D N 0.168 3.164 0.179 3.084 1.000 0.707 0.725 0.725 0.714 . 4.710 3.640 3.359 1.138 0.665 1.000 0.963 0.996 969 . . . . ELAC2 224 0 34 15 0.306122448979592 TRUE TRUE +ENSG00000185158.12 . BCM GRCh38.p13 chr17 32022135 32022135 + G G A Missense_Mutation SNP ENST00000394713.7 exon1 c.G989A p.G330D exonic ENSG00000185158.12 . nonsynonymous SNV ENSG00000185158.12:ENST00000394713.7:exon1:c.G989A:p.G330D 17q11.2 C3L-00369 . . . . . . . . . 3.19 T T D D . N L T D 0.151 T T T 0.064 0.183 0.247 0.198 T T T T T T 1.044 12.170 0.503 N N -0.617 0.957 -0.831 0.715 0.000 0.651 0.654 0.651 0.636 . 2.020 0.969 0.192 0.833 0.465 0.000 0.001 0.001 961 Leucine-rich_repeat-containing_protein_37,_N-terminal . . . LRRC37B 279 0 198 132 0.4 NA TRUE +ENSG00000171401.15 . BCM GRCh38.p13 chr17 41503421 41503421 + G G A Missense_Mutation SNP ENST00000246635.8 exon3 c.C601T p.R201C exonic ENSG00000171401.15 . nonsynonymous SNV ENSG00000171401.15:ENST00000246635.8:exon3:c.C601T:p.R201C 17q21.2 C3L-00369 4.124e-05 0 0 0.0002 0 2.999e-05 0 6.057e-05 rs746117318 16.20 D D P P D D M D D 0.841 D D D 0.827 . 0.965 0.565 T D D D D T 4.147 28.200 0.999 D D 0.553 5.481 0.537 5.517 1.000 0.497 0.590 0.547 0.613 . 4.400 4.400 8.114 1.176 0.676 1.000 0.968 0.833 440 Intermediate_filament,_rod_domain . . ID=COSV55839059;OCCURENCE=1(breast),2(liver),3(central_nervous_system),1(stomach),3(prostate) KRT13 180 0 354 238 0.402027027027027 TRUE TRUE +ENSG00000157637.13 . BCM GRCh38.p13 chr17 81276140 81276140 + G G T Missense_Mutation SNP ENST00000374759.8 exon8 c.C741A p.F247L exonic ENSG00000157637.13 . nonsynonymous SNV ENSG00000157637.13:ENST00000374759.8:exon8:c.C741A:p.F247L 17q25.3 C3L-00369 . . . . . . . . . 7.20 D D P P N D L T D 0.824 T T D 0.203 0.653 0.076 0.483 T T T T D D 0.948 10.970 0.964 N N -0.880 0.545 -1.029 0.453 0.048 0.706 0.702 0.710 0.714 . 4.580 -3.440 -0.419 -2.137 -1.332 0.141 0.340 0.053 . Amino_acid_transporter,_transmembrane_domain . . . SLC38A10 63 0 172 33 0.160975609756098 TRUE TRUE +ENSG00000079101.16 . BCM GRCh38.p13 chr18 644994 644994 + T T G Missense_Mutation SNP ENST00000400606.6 exon8 c.T1294G p.F432V exonic ENSG00000079101.16 . nonsynonymous SNV ENSG00000079101.16:ENST00000400606.6:exon8:c.T1294G:p.F432V 18p11.32 C3L-00369 . . . . . . . . . 2.20 T T B B N D L T N 0.290 T T T 0.025 0.484 0.040 0.349 T T T T T T 1.512 15.810 0.964 D N -0.515 1.148 -0.454 1.277 0.977 0.554 0.492 0.602 0.530 . 4.870 2.390 1.159 0.970 0.609 0.985 0.898 0.777 958 Clusterin,_C-terminal . . . CLUL1 94 0 20 6 0.230769230769231 TRUE TRUE +ENSG00000104885.18 . BCM GRCh38.p13 chr19 2210439 2210439 + A A G Missense_Mutation SNP ENST00000398665.8 exon13 c.A1045G p.S349G exonic ENSG00000104885.18 . nonsynonymous SNV ENSG00000104885.18:ENST00000398665.8:exon13:c.A1045G:p.S349G 19p13.3 C3L-00369 . . . . . . . . . 1.18 T T . . N N L T N 0.123 T T T 0.096 0.211 0.599 1.561 T T T T T T 1.309 14.450 0.931 D N -0.728 0.767 -0.674 0.937 0.989 0.707 0.702 0.723 0.714 . 4.640 3.620 3.688 0.322 0.751 0.133 0.038 0.025 958 . . . . DOT1L 124 0 219 101 0.315625 TRUE TRUE +ENSG00000183248.12 . BCM GRCh38.p13 chr19 7869927 7869929 + GGC GGC - In_Frame_Del DEL ENST00000618550.5 exon5 c.3315_3317del p.P1106del exonic ENSG00000183248.12 . nonframeshift deletion ENSG00000183248.12:ENST00000618550.5:exon5:c.3315_3317del:p.P1106del 19p13.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRR36 13 0 37 4 0.0975609756097561 TRUE NA +ENSG00000127616.18 . BCM GRCh38.p13 chr19 11030813 11030813 + A A G Missense_Mutation SNP ENST00000344626.9 exon25 c.A3466G p.T1156A exonic ENSG00000127616.18 . nonsynonymous SNV ENSG00000127616.18:ENST00000344626.9:exon25:c.A3466G:p.T1156A 19p13.2 C3L-00369 . . . . . . . . . 20.20 D D D D D D M D D 0.988 D D D 0.953 0.796 0.939 2.618 D D D D D D 4.120 27.900 0.998 D D 0.895 10.914 0.795 9.963 1.000 0.707 0.725 0.702 0.714 . 4.590 4.590 9.019 1.312 0.756 1.000 0.743 0.969 510 Helicase,_C-terminal . . . SMARCA4 255 0 458 317 0.409032258064516 TRUE TRUE +ENSG00000123146.20 . BCM GRCh38.p13 chr19 14406421 14406421 + T T C Missense_Mutation SNP ENST00000242786.6 exon15 c.T1912C p.Y638H exonic ENSG00000123146.20 . nonsynonymous SNV ENSG00000123146.20:ENST00000242786.6:exon15:c.T1912C:p.Y638H 19p13.12 C3L-00369 . . . . . . . . . 10.16 D T . . N D . T D 0.803 T T D 0.431 0.792 0.538 0.681 T . D D D D 4.232 29.000 0.999 D D 0.687 6.940 0.634 6.679 1.000 0.696 0.780 0.687 0.630 . 4.770 4.770 6.154 1.135 0.665 1.000 1.000 0.951 957 . . . . ADGRE5 259 1 516 335 0.393654524089307 TRUE TRUE +ENSG00000130304.17 . BCM GRCh38.p13 chr19 17500379 17500379 + G G C Missense_Mutation SNP ENST00000252595.12 exon8 c.G1308C p.Q436H exonic ENSG00000130304.17 . nonsynonymous SNV ENSG00000130304.17:ENST00000252595.12:exon8:c.G1308C:p.Q436H 19p13.11 C3L-00369 1.66e-05 0.0002 0 0 0 0 0 0 rs142834494 3.20 D T P P N D L T N 0.249 T T T 0.067 . 0.743 0.366 T T T T T D 2.056 19.680 0.996 N N -0.331 1.540 -0.402 1.368 1.000 0.660 0.694 0.269 0.722 . 3.590 -0.237 -1.118 1.003 0.586 0.000 0.964 0.992 940 AMP-dependent_synthetase/ligase . . . SLC27A1 158 0 412 33 0.0741573033707865 TRUE NA +ENSG00000245848.3 . BCM GRCh38.p13 chr19 33301550 33301550 + G G T Missense_Mutation SNP ENST00000498907.3 exon1 c.C865A p.R289S exonic ENSG00000245848.3 . nonsynonymous SNV ENSG00000245848.3:ENST00000498907.3:exon1:c.C865A:p.R289S 19q13.11 C3L-00369 . . . . . . . . . 18.19 D D D D . D H T D 0.908 D D D 0.844 0.658 0.872 . D D D D D D 4.439 31 0.997 D D 0.776 8.333 0.663 7.110 1.000 0.652 0.563 0.641 0.639 . 4.700 4.700 3.186 1.077 0.562 1.000 1.000 0.998 507 Basic-leucine_zipper_domain . . . CEBPA 439 0 830 602 0.420391061452514 TRUE TRUE +ENSG00000239382.10 . BCM GRCh38.p13 chr19 36009393 36009393 + G G T Missense_Mutation SNP ENST00000252984.11 exon8 c.C614A p.P205Q exonic ENSG00000239382.10 . nonsynonymous SNV ENSG00000239382.10:ENST00000252984.11:exon8:c.C614A:p.P205Q 19q13.12 C3L-00369 . . . . . . . . . 0.18 T T B B . N N . N 0.147 T T T 0.011 0.344 0.118 1.532 T T T T T T 0.413 5.569 0.815 N N -1.320 0.154 -1.312 0.201 1.000 0.726 0.594 0.674 0.619 . 5.510 -1.300 -0.013 -0.210 -0.123 0.006 0.030 0.019 744 Alpha-ketoglutarate-dependent_dioxygenase_AlkB-like;Oxoglutarate/iron-dependent_dioxygenase . . . ALKBH6 28 0 59 35 0.372340425531915 TRUE TRUE +ENSG00000197928.10 . BCM GRCh38.p13 chr19 53237877 53237877 + T T A Missense_Mutation SNP ENST00000598513.5 exon5 c.A850T p.I284F exonic ENSG00000197928.10 . nonsynonymous SNV ENSG00000197928.10:ENST00000598513.5:exon5:c.A850T:p.I284F 19q13.42 C3L-00369 . . . . . . . . . 6.20 D D D P N N M T D 0.212 T T T 0.100 0.532 0.428 0.312 T T T T D T 2.310 21.600 0.987 N N -0.118 2.117 -0.302 1.559 0.001 0.487 0.574 0.447 0.613 . 2.200 2.200 1.007 0.867 0.572 0.001 0.534 0.232 994 Zinc_finger_C2H2-type . . . ZNF677 122 0 14 10 0.416666666666667 TRUE TRUE +ENSG00000118705.17 . BCM GRCh38.p13 chr20 37228583 37228583 + C C G Missense_Mutation SNP ENST00000237530.11 exon12 c.C1333G p.Q445E exonic ENSG00000118705.17 . nonsynonymous SNV ENSG00000118705.17:ENST00000237530.11:exon12:c.C1333G:p.Q445E 20q11.23 C3L-00369 . . . . . . . . . 11.20 D D D D D D M T N 0.651 T T T 0.218 0.551 0.658 0.614 T T T T D D 3.718 25.500 0.995 D D 0.519 5.183 0.573 5.901 1.000 0.722 0.725 0.699 0.714 . 5.430 5.430 7.388 1.026 0.599 1.000 1.000 0.999 711 . . . . RPN2 223 0 163 9 0.0523255813953488 TRUE NA +ENSG00000124216.4 . BCM GRCh38.p13 chr20 49983982 49983982 + G G T Nonsense_Mutation SNP ENST00000244050.3 exon2 c.G241T p.E81X exonic ENSG00000124216.4 . stopgain ENSG00000124216.4:ENST00000244050.3:exon2:c.G241T:p.E81X 20q13.13 C3L-00369 . . . . . . . . . 4.6 . . . . N A . . . 0.832 . . . . . . . . . D D . . 7.812 39 0.998 D N 0.777 8.343 0.631 6.639 1.000 0.767 0.593 0.851 0.665 . 4.920 4.920 0.896 1.176 0.676 0.699 0.877 0.982 959 . . . . SNAI1 97 0 174 182 0.51123595505618 TRUE TRUE +ENSG00000147138.2 . BCM GRCh38.p13 chrX 79171075 79171075 + C C A Missense_Mutation SNP ENST00000645147.1 exon3 c.C68A p.A23E exonic ENSG00000147138.2 . nonsynonymous SNV ENSG00000147138.2:ENST00000645147.1:exon3:c.C68A:p.A23E Xq21.1 C3L-00369 . . . . . . . . . 11.19 D D D D D D M T D 0.763 T T T 0.368 0.712 0.384 0.949 T T D T D T 3.083 23.600 0.992 D . . . . . 1.000 . . . . . 5.000 4.120 2.701 1.026 0.549 0.985 1.000 0.996 663 . . . ID=COSV99338376;OCCURENCE=1(endometrium) GPR174 50 1 0 5 1 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52603520 52603520 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000163939.18 ENST00000296302.11:exon17:c.2779+1G>A . . 3p21.1 C3L-00369 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.063 33 0.992 D . 1.174 21.598 1.031 20.873 1.000 0.164 0.157 0.084 0.110 0.987 5.430 5.430 5.568 1.026 0.599 1.000 1.000 1.000 27 . . . ID=COSV56265270;OCCURENCE=1(kidney) PBRM1 68 0 3 7 0.7 TRUE NA +ENSG00000071246.11 . BCM GRCh38.p13 chr14 76773136 76773136 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000071246.11 ENST00000167106.9:exon4:c.456-1G>A . . 14q24.3 C3L-00369 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.382 35 0.995 D . 1.163 20.836 0.994 18.508 1.000 0.177 0.097 0.045 0.262 0.983 4.710 4.710 10.003 1.176 0.676 1.000 0.988 0.989 934 . . . . VASH1 77 0 125 65 0.342105263157895 TRUE TRUE +ENSG00000185100.10 . BCM GRCh38.p13 chr14 104735018 104735018 + - NA G Splice_Site SNP NA NA NA NA splicing ENSG00000185100.10 ENST00000330877.6:exon2:c.193-2->G . . 14q32.33 C3L-00369 8.777e-06 0 0 0 0 1.584e-05 0 0 rs760706338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADSS1 NA NA NA NA NA NA NA +ENSG00000103160.12 . BCM GRCh38.p13 chr16 84129985 84129985 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000103160.12 ENST00000219439.9:exon4:c.666+1G>A . . 16q24.1 C3L-00369 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.910 33 0.994 D . 1.019 14.525 0.843 11.517 0.998 0.156 0.156 0.232 0.118 0.894 5.260 4.310 7.102 1.026 0.549 1.000 0.894 0.686 675 . . . . HSDL1 74 0 46 38 0.452380952380952 TRUE TRUE +ENSG00000033627.16 . BCM GRCh38.p13 chr17 42513979 42513979 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000033627.16 ENST00000343619.8:exon20:c.2248+1G>A . . 17q21.2 C3L-00369 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.776 34 0.995 D . 1.162 20.798 0.991 18.322 1.000 0.257 0.272 0.232 0.110 0.982 4.920 4.920 10.003 1.176 0.676 1.000 0.895 0.300 168 . . . . ATP6V0A1 121 0 249 183 0.423611111111111 TRUE TRUE +ENSG00000187961.14 . BCM GRCh38.p13 chr1 965149 965149 + G G T Silent SNP ENST00000338591.8 exon12 c.G1887T p.P629P exonic ENSG00000187961.14 . synonymous SNV ENSG00000187961.14:ENST00000338591.8:exon12:c.G1887T:p.P629P 1p36.33 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL17 206 0 358 259 0.419773095623987 TRUE TRUE +ENSG00000198734.12 . BCM GRCh38.p13 chr1 169541994 169541994 + C C T Silent SNP ENST00000367797.9 exon13 c.G3096A p.K1032K exonic ENSG00000198734.12 . synonymous SNV ENSG00000198734.12:ENST00000367797.9:exon13:c.G3096A:p.K1032K 1q24.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F5 305 4 133 9 0.0633802816901408 TRUE NA +ENSG00000179270.7 . BCM GRCh38.p13 chr2 29071913 29071913 + A A T Silent SNP ENST00000331664.6 exon1 c.T2349A p.I783I exonic ENSG00000179270.7 . synonymous SNV ENSG00000179270.7:ENST00000331664.6:exon1:c.T2349A:p.I783I 2p23.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCARE 158 0 97 65 0.401234567901235 TRUE TRUE +ENSG00000163359.16 . BCM GRCh38.p13 chr2 237325651 237325651 + G G A Silent SNP ENST00000295550.9 exon43 c.C9402T p.T3134T exonic ENSG00000163359.16 . synonymous SNV ENSG00000163359.16:ENST00000295550.9:exon43:c.C9402T:p.T3134T 2q37.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL6A3 251 0 34 21 0.381818181818182 TRUE TRUE +ENSG00000183090.5 . BCM GRCh38.p13 chr4 143696746 143696746 + A A G Silent SNP ENST00000329798.5 exon1 c.T3930C p.T1310T exonic ENSG00000183090.5 . synonymous SNV ENSG00000183090.5:ENST00000329798.5:exon1:c.T3930C:p.T1310T 4q31.21 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FREM3 143 0 59 36 0.378947368421053 TRUE TRUE +ENSG00000171495.17 . BCM GRCh38.p13 chr5 41057309 41057309 + T T G Silent SNP ENST00000399564.5 exon8 c.A808C p.R270R exonic ENSG00000171495.17 . synonymous SNV ENSG00000171495.17:ENST00000399564.5:exon8:c.A808C:p.R270R 5p13.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MROH2B 139 0 23 19 0.452380952380952 TRUE TRUE +ENSG00000113583.8 . BCM GRCh38.p13 chr5 133968516 133968516 + G G A Silent SNP ENST00000231512.5 exon1 c.C69T p.I23I exonic ENSG00000113583.8 . synonymous SNV ENSG00000113583.8:ENST00000231512.5:exon1:c.C69T:p.I23I 5q31.1 C3L-00369 . . . . . . . . rs747208047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51548789;OCCURENCE=1(endometrium) C5orf15 287 0 575 381 0.398535564853557 TRUE TRUE +ENSG00000213214.5 . BCM GRCh38.p13 chr7 144187486 144187486 + G G A Silent SNP ENST00000378115.3 exon2 c.C898T p.L300L exonic ENSG00000213214.5 . synonymous SNV ENSG00000213214.5:ENST00000378115.3:exon2:c.C898T:p.L300L 7q35 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGEF35 22 0 6 20 0.769230769230769 NA TRUE +ENSG00000104356.11 . BCM GRCh38.p13 chr8 98150550 98150550 + G G A Silent SNP ENST00000401707.7 exon14 c.G1968A p.S656S exonic ENSG00000104356.11 . synonymous SNV ENSG00000104356.11:ENST00000401707.7:exon14:c.G1968A:p.S656S 8q22.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100855814;OCCURENCE=1(large_intestine) POP1 373 0 183 67 0.268 TRUE NA +ENSG00000196116.8 . BCM GRCh38.p13 chr9 97441671 97441671 + G G A Silent SNP ENST00000355295.5 exon6 c.G651A p.Q217Q exonic ENSG00000196116.8 . synonymous SNV ENSG00000196116.8:ENST00000355295.5:exon6:c.G651A:p.Q217Q 9q22.33 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDRD7 168 0 49 6 0.109090909090909 NA TRUE +ENSG00000107882.12 . BCM GRCh38.p13 chr10 102630140 102630140 + C C T Silent SNP ENST00000369902.8 exon12 c.C1440T p.D480D exonic ENSG00000107882.12 . synonymous SNV ENSG00000107882.12:ENST00000369902.8:exon12:c.C1440T:p.D480D 10q24.32 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUFU 399 0 654 423 0.392757660167131 TRUE TRUE +ENSG00000184363.10 . BCM GRCh38.p13 chr11 394410 394410 + C C A Silent SNP ENST00000331563.7 exon1 c.C118A p.R40R exonic ENSG00000184363.10 . synonymous SNV ENSG00000184363.10:ENST00000331563.7:exon1:c.C118A:p.R40R 11p15.5 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKP3 105 0 212 123 0.367164179104478 TRUE NA +ENSG00000233436.7 . BCM GRCh38.p13 chr11 57745778 57745778 + G G T Silent SNP ENST00000422652.5 exon3 c.C495A p.T165T exonic ENSG00000233436.7 . synonymous SNV ENSG00000233436.7:ENST00000422652.5:exon3:c.C495A:p.T165T 11q12.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BTBD18 213 0 329 223 0.403985507246377 TRUE TRUE +ENSG00000175582.19 . BCM GRCh38.p13 chr11 73707504 73707504 + T T A Silent SNP ENST00000336083.7 exon6 c.A411T p.S137S exonic ENSG00000175582.19 . synonymous SNV ENSG00000175582.19:ENST00000336083.7:exon6:c.A411T:p.S137S 11q13.4 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB6A 108 0 24 11 0.314285714285714 TRUE TRUE +ENSG00000100918.13 . BCM GRCh38.p13 chr14 24173001 24173001 + T T G Silent SNP ENST00000611366.5 exon3 c.T228G p.G76G exonic ENSG00000100918.13 . synonymous SNV ENSG00000100918.13:ENST00000611366.5:exon3:c.T228G:p.G76G 14q12 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REC8 209 0 376 170 0.311355311355311 TRUE TRUE +ENSG00000103051.20 . BCM GRCh38.p13 chr16 70481102 70481102 + A A G Silent SNP ENST00000323786.10 exon19 c.T2278C p.L760L exonic ENSG00000103051.20 . synonymous SNV ENSG00000103051.20:ENST00000323786.10:exon19:c.T2278C:p.L760L 16q22.1 C3L-00369 0.0003 9.72e-05 0.0007 0 0 0.0004 0 0.0001 rs113010015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COG4 189 0 549 35 0.0599315068493151 TRUE NA +ENSG00000161544.10 . BCM GRCh38.p13 chr17 76537411 76537411 + G G A Silent SNP ENST00000293230.10 exon1 c.C132T p.A44A exonic ENSG00000161544.10 . synonymous SNV ENSG00000161544.10:ENST00000293230.10:exon1:c.C132T:p.A44A 17q25.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYGB 243 0 487 302 0.38276299112801 TRUE TRUE +ENSG00000105700.11 . BCM GRCh38.p13 chr19 18562141 18562141 + C C T Silent SNP ENST00000222307.9 exon2 c.C85T p.L29L exonic ENSG00000105700.11 . synonymous SNV ENSG00000105700.11:ENST00000222307.9:exon2:c.C85T:p.L29L 19p13.11 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KXD1 143 0 274 135 0.330073349633252 TRUE TRUE +ENSG00000171804.11 . BCM GRCh38.p13 chr19 37896255 37896255 + C C T Silent SNP ENST00000447313.7 exon3 c.G129A p.Q43Q exonic ENSG00000171804.11 . synonymous SNV ENSG00000171804.11:ENST00000447313.7:exon3:c.G129A:p.Q43Q 19q13.13 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR87 184 0 60 36 0.375 TRUE TRUE +ENSG00000018869.16 . BCM GRCh38.p13 chr19 56384655 56384655 + C C T Silent SNP ENST00000301310.8 exon5 c.G762A p.P254P exonic ENSG00000018869.16 . synonymous SNV ENSG00000018869.16:ENST00000301310.8:exon5:c.G762A:p.P254P 19q13.43 C3L-00369 5.773e-05 9.634e-05 0 0 0 9.002e-05 0 0 rs200288756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF582 164 0 34 19 0.358490566037736 TRUE NA +ENSG00000124256.15 . BCM GRCh38.p13 chr20 57614891 57614891 + G G A Silent SNP ENST00000371173.8 exon4 c.C498T p.R166R exonic ENSG00000124256.15 . synonymous SNV ENSG00000124256.15:ENST00000371173.8:exon4:c.C498T:p.R166R 20q13.31 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBP1 133 0 186 122 0.396103896103896 TRUE TRUE +ENSG00000070010.19 . BCM GRCh38.p13 chr22 19475474 19475474 + C C T Silent SNP ENST00000263202.15 exon2 c.G132A p.G44G exonic ENSG00000070010.19 . synonymous SNV ENSG00000070010.19:ENST00000263202.15:exon2:c.G132A:p.G44G 22q11.21 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UFD1 108 0 54 5 0.0847457627118644 NA TRUE +ENSG00000094631.21 . BCM GRCh38.p13 chrX 48824183 48824183 + C C T Silent SNP ENST00000334136.11 exon28 c.C3468T p.Y1156Y exonic ENSG00000094631.21 . synonymous SNV ENSG00000094631.21:ENST00000334136.11:exon28:c.C3468T:p.Y1156Y Xp11.23 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDAC6 44 0 43 101 0.701388888888889 TRUE TRUE +ENSG00000181433.9 . BCM GRCh38.p13 chrX 135906936 135906936 + C C A Silent SNP ENST00000324447.7 exon8 c.C747A p.I249I exonic ENSG00000181433.9 . synonymous SNV ENSG00000181433.9:ENST00000324447.7:exon8:c.C747A:p.I249I Xq26.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAGE1 53 0 4 12 0.75 TRUE TRUE +ENSG00000009780.15 . BCM GRCh38.p13 chr1 27760053 27760053 + G G A Intron SNP NA NA NA NA intronic ENSG00000009780.15 . . . 1p35.3 C3L-00369 0.0005 0.0066 0 0 0 0 0 0.0002 rs575900320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM76A 68 0 89 5 0.0531914893617021 TRUE NA +ENSG00000144908.14 . BCM GRCh38.p13 chr3 126153409 126153409 + T T C Intron SNP NA NA NA NA intronic ENSG00000144908.14 . . . 3q21.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALDH1L1 355 0 601 375 0.38422131147541 TRUE NA +ENSG00000251595.7 . BCM GRCh38.p13 chr4 426941 426941 + A A C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251595.7 . . . 4p16.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCA11P 283 0 36 18 0.333333333333333 TRUE NA +ENSG00000036448.10 . BCM GRCh38.p13 chr8 2201050 2201050 + C C T IGR SNP NA NA NA NA intergenic ENSG00000036448.10;ENSG00000253444.1 dist=55594;dist=292826 . . 8p23.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYOM2 186 1 88 6 0.0638297872340425 TRUE NA +ENSG00000099246.17 . BCM GRCh38.p13 chr10 27541550 27541550 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000099246.17 ENST00000356940.11:c.*3499C>A . . 10p12.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB18 152 1 57 4 0.0655737704918033 TRUE NA +ENSG00000051009.11 . BCM GRCh38.p13 chr11 6217160 6217160 + C C A Intron SNP NA NA NA NA intronic ENSG00000051009.11 . . . 11p15.4 C3L-00369 . . . . . . . . . 2.16 D . B B . D . T N 0.223 T T T 0.033 0.443 0.043 . . T T T T T 0.535 6.862 0.962 N N -0.919 0.496 -0.944 0.562 0.923 0.707 0.725 0.725 0.636 . 4.550 -4.690 -0.447 -0.217 -0.193 0.461 0.994 0.964 601 . . . . FAM160A2 288 0 66 49 0.426086956521739 TRUE TRUE +ENSG00000134884.15 . BCM GRCh38.p13 chr13 106559412 106559412 + T T C Intron SNP NA NA NA NA intronic ENSG00000134884.15 . . . 13q33.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARGLU1 406 0 226 20 0.0813008130081301 TRUE NA +ENSG00000058600.16 . BCM GRCh38.p13 chr16 22305441 22305441 + G G T Intron SNP NA NA NA NA intronic ENSG00000058600.16 . . . 16p12.2 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POLR3E 161 1 153 81 0.346153846153846 TRUE NA +ENSG00000261243.1 . BCM GRCh38.p13 chr16 84497481 84497481 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000261243.1 . . . 16q24.1 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC022165.1 82 0 135 88 0.394618834080717 TRUE NA +ENSG00000141522.12 . BCM GRCh38.p13 chr17 81868617 81868617 + G G C 3'UTR SNP NA NA NA NA UTR3 ENSG00000141522.12 ENST00000269321.12:c.*259C>G . . 17q25.3 C3L-00369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGDIA 116 0 335 35 0.0945945945945946 TRUE NA +ENSG00000196628.19 . BCM GRCh38.p13 chr18 55403686 55403686 + A A G Intron SNP NA NA NA NA intronic ENSG00000196628.19 . . . 18q21.2 C3L-00369 . . . . . . . . . 4.14 D . . . . D . T N 0.350 T T T 0.083 0.274 0.242 . . T T T D T 1.994 19.210 0.923 D N 0.064 2.748 0.250 3.440 1.000 0.447 0.563 0.492 0.649 . 5.940 5.940 3.732 1.312 0.756 1.000 1.000 1.000 848 . . . . TCF4 185 0 18 11 0.379310344827586 TRUE TRUE +ENSG00000100253.13 . BCM GRCh38.p13 chr22 50488264 50488264 + C C G Intron SNP NA NA NA NA intronic ENSG00000100253.13 . . . 22q13.33 C3L-00369 . . . . . . . . . 2.15 D T B B . D . . N 0.303 T T T 0.029 0.424 0.014 . . . T T T T 0.553 7.045 0.781 N N -0.888 0.535 -0.960 0.540 1.000 0.581 0.547 0.576 0.563 . 3.990 0.528 0.486 -0.910 0.526 0.000 0.001 0.027 794 . . . . MIOX 127 0 223 170 0.432569974554707 TRUE TRUE +ENSG00000171608.16 . BCM GRCh38.p13 chr1 9722592 9722592 + G G - Frame_Shift_Del DEL ENST00000377346.9 exon19 c.2412delG p.L806Wfs*3 exonic ENSG00000171608.16 . frameshift deletion ENSG00000171608.16:ENST00000377346.9:exon19:c.2412delG:p.L806Wfs*3 1p36.22 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3CD 186 0 334 37 0.0997304582210243 TRUE TRUE +ENSG00000158828.8 . BCM GRCh38.p13 chr1 20633688 20633688 + G G A Missense_Mutation SNP ENST00000321556.5 exon1 c.G140A p.G47D exonic ENSG00000158828.8 . nonsynonymous SNV ENSG00000158828.8:ENST00000321556.5:exon1:c.G140A:p.G47D 1p36.12 C3L-00416 . . . . . . . . . 4.20 T T D P N N M T N 0.198 T T D 0.289 0.159 0.801 0.421 D T T T T T 2.635 22.700 0.996 N N -0.091 2.204 -0.262 1.645 1.000 0.652 0.607 0.641 0.492 . 3.690 3.690 1.968 1.050 0.450 0.015 0.264 0.478 792 . . . . PINK1 18 0 38 6 0.136363636363636 TRUE TRUE +ENSG00000204084.13 . BCM GRCh38.p13 chr1 37882835 37882835 + T T C Missense_Mutation SNP ENST00000373023.6 exon14 c.A1643G p.D548G exonic ENSG00000204084.13 . nonsynonymous SNV ENSG00000204084.13:ENST00000373023.6:exon14:c.A1643G:p.D548G 1p34.3 C3L-00416 . . . . . . . . . 12.20 T T B B N D M D D 0.461 D D D 0.490 0.531 0.948 0.380 T D D T D D 1.988 19.160 0.963 D N -0.279 1.666 -0.209 1.765 0.000 0.707 0.725 0.702 0.636 . 5.580 1.220 1.692 0.200 -0.153 1.000 1.000 0.995 810 Endonuclease/exonuclease/phosphatase;OCRL1/INPP5B,_INPP5c_domain;Inositol_polyphosphate-related_phosphatase . . . INPP5B 161 0 162 36 0.181818181818182 TRUE TRUE +ENSG00000116882.14 . BCM GRCh38.p13 chr1 119386751 119386751 + G G T Nonsense_Mutation SNP ENST00000622548.4 exon6 c.G691T p.E231X exonic ENSG00000116882.14 . stopgain ENSG00000116882.14:ENST00000622548.4:exon6:c.G691T:p.E231X 1p12 C3L-00416 . . . . . . . . . 5.6 . . . . D A . . . 0.345 . . . . . . . . . D D . . 8.063 40 0.997 D N 1.171 21.374 1.015 19.781 0.857 0.554 0.590 0.602 0.564 . 5.060 5.060 6.397 1.176 0.676 1.000 1.000 0.994 770 FMN-dependent_dehydrogenase;FMN_hydroxy_acid_dehydrogenase_domain . . . HAO2 249 1 240 49 0.169550173010381 TRUE TRUE +ENSG00000081248.11 . BCM GRCh38.p13 chr1 201066964 201066964 + C C G Missense_Mutation SNP ENST00000362061.4 exon20 c.G2580C p.K860N exonic ENSG00000081248.11 . nonsynonymous SNV ENSG00000081248.11:ENST00000362061.4:exon20:c.G2580C:p.K860N 1q32.1 C3L-00416 . . . . . . . . . 15.20 D D P P D D M D D 0.535 D D D 0.610 0.604 0.924 0.421 T D D T D D 2.682 22.800 0.993 D N -0.471 1.233 -0.635 0.994 0.002 0.497 0.590 0.547 0.530 . 3.810 -3.380 -0.041 -0.219 -0.183 0.819 0.997 0.995 917 Ion_transport_domain . . . CACNA1S 359 0 512 52 0.0921985815602837 TRUE TRUE +ENSG00000136636.13 . BCM GRCh38.p13 chr1 215595468 215595468 + G G A Nonsense_Mutation SNP ENST00000259154.9 exon10 c.G930A p.W310X exonic ENSG00000136636.13 . stopgain ENSG00000136636.13:ENST00000259154.9:exon10:c.G930A:p.W310X 1q41 C3L-00416 . . . . . . . . . 5.6 . . . . D A . . . 0.471 . . . . . . . . . D D . . 7.686 39 0.996 D N 1.049 15.539 0.948 15.963 1.000 0.732 0.744 0.744 0.728 . 5.720 5.720 9.602 1.176 0.676 1.000 1.000 1.000 680 . . . . KCTD3 128 0 118 17 0.125925925925926 TRUE TRUE +ENSG00000163798.13 . BCM GRCh38.p13 chr2 27677893 27677893 + G G A Missense_Mutation SNP ENST00000613058.4 exon8 c.G1732A p.V578I exonic ENSG00000163798.13 . nonsynonymous SNV ENSG00000163798.13:ENST00000613058.4:exon8:c.G1732A:p.V578I 2p23.3 C3L-00416 . . . . . . . . . 6.20 T T P P D D M T N 0.402 T T T 0.167 0.201 0.361 0.553 T T T T D D 3.571 24.900 0.997 D N 0.527 5.255 0.532 5.464 0.887 0.732 0.744 0.651 0.728 . 5.510 4.630 6.575 1.176 0.676 1.000 1.000 1.000 45 . . . . SLC4A1AP 78 0 54 16 0.228571428571429 TRUE TRUE +ENSG00000183091.19 . BCM GRCh38.p13 chr2 151540735 151540735 + A A T Missense_Mutation SNP ENST00000172853.14 exon109 c.T15646A p.L5216M exonic ENSG00000183091.19 . nonsynonymous SNV ENSG00000183091.19:ENST00000172853.14:exon109:c.T15646A:p.L5216M 2q23.3 C3L-00416 . . . . . . . . . 4.20 T T B B D D N T N 0.466 T T T 0.158 0.413 0.343 0.337 T T T T D T 2.364 21.900 0.970 D N -0.342 1.514 -0.363 1.440 0.048 0.554 0.574 0.618 0.621 . 6.070 -5.030 0.707 0.314 0.756 0.998 0.989 0.989 908 . . . . NEB 141 0 164 37 0.18407960199005 TRUE TRUE +ENSG00000018280.17 . BCM GRCh38.p13 chr2 218389871 218389871 + C C A Missense_Mutation SNP ENST00000233202.11 exon9 c.C797A p.S266Y exonic ENSG00000018280.17 . nonsynonymous SNV ENSG00000018280.17:ENST00000233202.11:exon9:c.C797A:p.S266Y 2q35 C3L-00416 . . . . . . . . . 18.20 D D D D D D M T D 0.690 D D D 0.694 0.603 0.883 0.628 T D D D D D 4.298 29.600 0.995 D D 0.828 9.343 0.732 8.398 1.000 0.403 0.547 0.578 0.613 . 4.950 4.950 7.681 1.026 0.599 1.000 0.992 0.920 929 . . . . SLC11A1 34 0 55 9 0.140625 TRUE TRUE +ENSG00000163491.16 . BCM GRCh38.p13 chr3 27162544 27162548 + ATGTG ATGTG - Nonsense_Mutation DEL ENST00000429845.6 exon32 c.2923_2927del p.H975* exonic ENSG00000163491.16 . stopgain ENSG00000163491.16:ENST00000429845.6:exon32:c.2923_2927del:p.H975* 3p24.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEK10 199 0 123 22 0.151724137931034 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47017147 47017147 + G G T Nonsense_Mutation SNP ENST00000409792.3 exon21 c.C7641A p.Y2547X exonic ENSG00000181555.20 . stopgain ENSG00000181555.20:ENST00000409792.3:exon21:c.C7641A:p.Y2547X 3p21.31 C3L-00416 . . . . . . . . . 5.6 . . . . D D . . . 0.692 . . . . . . . . . D D . . 7.545 38 0.993 D N 0.819 9.161 0.685 7.472 1.000 0.732 0.696 0.744 0.756 . 4.880 4.880 3.438 1.083 0.676 1.000 1.000 0.999 23 Set2_Rpb1_interacting_domain . . . SETD2 139 0 105 15 0.125 TRUE TRUE +ENSG00000007402.11 . BCM GRCh38.p13 chr3 50365641 50365641 + A A T Missense_Mutation SNP ENST00000479441.1 exon35 c.T2984A p.F995Y exonic ENSG00000007402.11 . nonsynonymous SNV ENSG00000007402.11:ENST00000479441.1:exon35:c.T2984A:p.F995Y 3p21.31 C3L-00416 . . . . . . . . . 9.20 T D D P D D M T N 0.696 T T D 0.400 0.462 0.598 1.352 T T T T D T 3.360 24.300 0.973 D D 0.383 4.240 0.423 4.525 1.000 0.455 0.552 0.522 0.568 . 4.930 4.930 8.892 1.312 0.756 1.000 1.000 0.994 2 Voltage-dependent_calcium_channel,_alpha-2/delta_subunit,_conserved_region . . . CACNA2D2 181 0 154 36 0.189473684210526 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52403175 52403175 + G G - Frame_Shift_Del DEL ENST00000460680.6 exon14 c.1853delC p.P618Lfs*5 exonic ENSG00000163930.10 . frameshift deletion ENSG00000163930.10:ENST00000460680.6:exon14:c.1853delC:p.P618Lfs*5 3p21.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 324 0 238 48 0.167832167832168 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52586473 52586474 + TG TG - Frame_Shift_Del DEL ENST00000296302.11 exon20 c.3338_3339del p.T1113Rfs*9 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon20:c.3338_3339del:p.T1113Rfs*9 3p21.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 170 0 113 6 0.0504201680672269 NA TRUE +ENSG00000175054.16 . BCM GRCh38.p13 chr3 142512265 142512265 + G G C Nonsense_Mutation SNP ENST00000350721.9 exon27 c.C4847G p.S1616X exonic ENSG00000175054.16 . stopgain ENSG00000175054.16:ENST00000350721.9:exon27:c.C4847G:p.S1616X 3q23 C3L-00416 . . . . . . . . . 3.6 . . . . N A . . . 0.942 . . . . . . . . . D D . . 6.621 36 0.989 N N 0.267 3.615 -0.059 2.169 0.064 0.707 0.725 0.725 0.714 . 5.070 3.200 2.047 -0.188 0.618 0.017 0.037 0.881 379 . . . ID=COSV100637640;OCCURENCE=1(lung) ATR 154 0 119 13 0.0984848484848485 TRUE TRUE +ENSG00000041802.11 . BCM GRCh38.p13 chr3 194670038 194670038 + G G A Missense_Mutation SNP ENST00000265245.10 exon2 c.C197T p.A66V exonic ENSG00000041802.11 . nonsynonymous SNV ENSG00000041802.11:ENST00000265245.10:exon2:c.C197T:p.A66V 3q29 C3L-00416 . . . . . . . . . 15.20 D D D D D D H T D 0.382 T T D 0.557 0.614 0.620 0.478 T T D D D D 4.154 28.200 0.999 D D 0.875 10.419 0.813 10.517 1.000 0.719 0.723 0.725 0.714 . 5.080 5.080 7.226 1.176 0.671 1.000 1.000 0.997 969 . . . . LSG1 95 0 97 19 0.163793103448276 TRUE TRUE +ENSG00000013810.19 . BCM GRCh38.p13 chr4 1731298 1731298 + G G A Missense_Mutation SNP ENST00000313288.9 exon6 c.G1588A p.E530K exonic ENSG00000013810.19 . nonsynonymous SNV ENSG00000013810.19:ENST00000313288.9:exon6:c.G1588A:p.E530K 4p16.3 C3L-00416 . . . . . . . . . 11.20 D D D D N D M T D 0.243 T T D 0.148 0.367 0.601 0.340 T D T T D T 4.014 27.100 0.999 D N 0.271 3.631 0.170 3.041 1.000 0.707 0.702 0.702 0.714 . 4.020 3.090 1.782 1.144 0.676 0.902 0.080 0.901 799 . . . . TACC3 66 0 70 18 0.204545454545455 TRUE TRUE +ENSG00000178522.14 . BCM GRCh38.p13 chr4 70606513 70606513 + C C G Missense_Mutation SNP ENST00000322937.10 exon13 c.C1127G p.P376R exonic ENSG00000178522.14 . nonsynonymous SNV ENSG00000178522.14:ENST00000322937.10:exon13:c.C1127G:p.P376R 4q13.3 C3L-00416 . . . . . . . . . 2.20 T T P P N N L T D 0.206 T T T 0.062 0.495 0.393 0.319 T T T T D T 0.467 6.151 0.833 N N -0.701 0.812 -0.876 0.652 0.860 0.497 0.590 0.547 0.530 . 5.790 -1.860 -0.745 -0.217 -0.193 0.000 0.000 0.001 865 . . . . AMBN 128 0 101 24 0.192 TRUE TRUE +ENSG00000118762.8 . BCM GRCh38.p13 chr4 88046814 88046814 + C C G Missense_Mutation SNP ENST00000237596.7 exon6 c.C1492G p.H498D exonic ENSG00000118762.8 . nonsynonymous SNV ENSG00000118762.8:ENST00000237596.7:exon6:c.C1492G:p.H498D 4q22.1 C3L-00416 . . . . . . . . . 14.20 D D B B D D M T D 0.756 T T D 0.644 0.631 0.818 0.577 T D D D D D 3.116 23.700 0.995 D D 0.349 4.044 0.487 5.042 1.000 0.707 0.709 0.725 0.714 . 5.620 5.620 7.870 1.026 0.547 1.000 0.999 0.997 489 Polycystin_cation_channel,_PKD1/PKD2 . . . PKD2 263 0 199 39 0.163865546218487 TRUE TRUE +ENSG00000152932.8 . BCM GRCh38.p13 chr5 58583228 58583228 + T T C Missense_Mutation SNP ENST00000282878.6 exon1 c.T20C p.M7T exonic ENSG00000152932.8 . nonsynonymous SNV ENSG00000152932.8:ENST00000282878.6:exon1:c.T20C:p.M7T 5q11.2 C3L-00416 . . . . . . . . . 4.20 T T B B N D N T N 0.569 T T T 0.223 0.209 0.800 0.288 T T D T D T 2.651 22.700 0.949 N D -0.170 1.961 0.060 2.576 1.000 0.767 0.492 0.851 0.604 . 5.200 5.200 4.194 1.138 0.665 1.000 1.000 0.999 812 . . . . RAB3C 190 0 165 23 0.122340425531915 TRUE TRUE +ENSG00000145703.16 . BCM GRCh38.p13 chr5 76403552 76403552 + C C T Missense_Mutation SNP ENST00000274364.11 exon1 c.C7T p.H3Y exonic ENSG00000145703.16 . nonsynonymous SNV ENSG00000145703.16:ENST00000274364.11:exon1:c.C7T:p.H3Y 5q13.3 C3L-00416 . . . . . . . . . 5.20 D T B B U D L T N 0.303 T T D 0.053 0.175 0.393 0.239 T T T T D T 2.508 22.400 0.985 D N -0.336 1.528 -0.206 1.772 1.000 0.442 0.484 0.522 0.555 . 3.710 3.710 3.507 0.876 0.467 1.000 0.991 0.873 928 . . . . IQGAP2 84 0 132 30 0.185185185185185 TRUE TRUE +ENSG00000198677.12 . BCM GRCh38.p13 chr5 95498524 95498524 + C C A Missense_Mutation SNP ENST00000358746.7 exon33 c.G3409T p.D1137Y exonic ENSG00000198677.12 . nonsynonymous SNV ENSG00000198677.12:ENST00000358746.7:exon33:c.G3409T:p.D1137Y 5q15 C3L-00416 . . . . . . . . . 15.20 D D D D D D M T D 0.952 T T D 0.521 0.481 0.682 0.478 T T D D D D 4.116 27.900 0.996 D D 0.858 10.024 0.852 11.843 1.000 0.732 0.725 0.744 0.714 . 5.850 5.850 6.360 1.026 0.599 1.000 0.930 0.970 646 . . . . TTC37 361 0 436 57 0.115618661257606 TRUE TRUE +ENSG00000239389.8 . BCM GRCh38.p13 chr5 140883391 140883391 + T T C Missense_Mutation SNP ENST00000289272.3 exon1 c.T1123C p.S375P exonic ENSG00000239389.8 . nonsynonymous SNV ENSG00000239389.8:ENST00000289272.3:exon1:c.T1123C:p.S375P 5q31.3 C3L-00416 . . . . . . . . . 9.18 D D D D . N M T D 0.580 T T D 0.257 0.365 0.685 . . T D T D T 3.200 23.900 0.998 N N 0.313 3.849 0.174 3.060 0.991 0.646 0.574 0.645 0.567 . 5.330 5.330 -0.752 0.177 -0.157 0.000 0.991 0.751 74 Cadherin-like . . . PCDHA13 269 0 274 45 0.141065830721003 TRUE NA +ENSG00000164587.13 . BCM GRCh38.p13 chr5 150447694 150447694 + C C G Missense_Mutation SNP ENST00000407193.7 exon2 c.G40C p.V14L exonic ENSG00000164587.13 . nonsynonymous SNV ENSG00000164587.13:ENST00000407193.7:exon2:c.G40C:p.V14L 5q33.1 C3L-00416 . . . . . . . . . 11.19 D T B B D D M . N 0.700 T T T 0.201 0.219 0.601 1.045 D T D D D D 3.183 23.800 0.996 D D 0.181 3.219 0.328 3.886 1.000 0.628 0.672 0.686 0.639 . 5.040 5.040 7.520 1.026 0.599 1.000 0.991 0.972 845 . . . . RPS14 108 0 151 21 0.122093023255814 TRUE TRUE +ENSG00000164438.6 . BCM GRCh38.p13 chr5 171310308 171310308 + G G C Missense_Mutation SNP ENST00000296921.6 exon2 c.G580C p.A194P exonic ENSG00000164438.6 . nonsynonymous SNV ENSG00000164438.6:ENST00000296921.6:exon2:c.G580C:p.A194P 5q35.1 C3L-00416 . . . . . . . . . 17.20 D T D D D D N D D 0.682 D D D 0.755 0.543 0.967 1.638 D D D D D T 3.976 26.800 0.997 D D 0.344 4.013 0.392 4.300 1.000 0.598 0.596 0.378 0.639 . 4.460 4.460 8.118 1.082 0.561 1.000 0.996 0.976 668 Homeobox_domain,_metazoa;Homeobox_domain . . . TLX3 324 0 337 162 0.324649298597194 TRUE TRUE +ENSG00000204628.12 . BCM GRCh38.p13 chr5 181241569 181241569 + G G A Missense_Mutation SNP ENST00000512805.6 exon3 c.C352T p.R118W exonic ENSG00000204628.12 . nonsynonymous SNV ENSG00000204628.12:ENST00000512805.6:exon3:c.C352T:p.R118W 5q35.3 C3L-00416 . . . . . . . . . 15.19 D D D D D D . T D 0.815 T T D 0.627 0.591 0.845 2.633 D T D D D D 5.073 33 0.999 D D 0.985 13.473 0.966 16.900 1.000 0.628 0.522 0.672 0.562 . 5.880 5.880 7.777 1.152 0.676 1.000 1.000 0.999 . WD40-repeat-containing_domain . . ID=COSV65174291;OCCURENCE=1(oesophagus),1(large_intestine) RACK1 138 0 146 54 0.27 TRUE TRUE +ENSG00000146192.15 . BCM GRCh38.p13 chr6 37022273 37022273 + A A T Missense_Mutation SNP ENST00000274963.13 exon13 c.A1361T p.Q454L exonic ENSG00000146192.15 . nonsynonymous SNV ENSG00000146192.15:ENST00000274963.13:exon13:c.A1361T:p.Q454L 6p21.2 C3L-00416 9.672e-06 0 0 0 0 1.733e-05 0 0 rs756612292 5.20 D T B B N D N T D 0.401 T T D 0.159 0.538 0.697 0.132 T T T T T T 2.057 19.690 0.994 D N -0.257 1.722 -0.220 1.739 1.000 0.672 0.702 0.233 0.632 . 4.590 3.330 0.803 0.279 0.686 0.094 0.796 0.944 863 FYVE_zinc_finger . . . FGD2 47 1 57 19 0.25 TRUE NA +ENSG00000135297.16 . BCM GRCh38.p13 chr6 73497856 73497856 + A A G Missense_Mutation SNP ENST00000370300.8 exon12 c.A1952G p.H651R exonic ENSG00000135297.16 . nonsynonymous SNV ENSG00000135297.16:ENST00000370300.8:exon12:c.A1952G:p.H651R 6q13 C3L-00416 . . . . . . . . . 0.19 T T B B N N N . N 0.259 T T T 0.042 0.263 0.296 0.324 T T T T T T 1.094 12.720 0.945 N N -0.712 0.792 -0.584 1.070 0.000 0.732 0.725 0.744 0.714 . 5.620 4.450 1.277 1.307 0.686 0.001 0.982 0.992 908 GidA_associated_domain_3 . . . MTO1 97 0 81 22 0.213592233009709 TRUE NA +ENSG00000135355.4 . BCM GRCh38.p13 chr6 89895227 89895227 + T T A Missense_Mutation SNP ENST00000369352.1 exon1 c.T759A p.D253E exonic ENSG00000135355.4 . nonsynonymous SNV ENSG00000135355.4:ENST00000369352.1:exon1:c.T759A:p.D253E 6q15 C3L-00416 . . . . . . . . . 2.20 T T B B N N N D N 0.110 T T D 0.200 0.172 0.714 0.034 T T T T T T 0.030 1.534 0.884 N N -1.437 0.102 -1.420 0.142 0.004 0.497 0.590 0.547 0.613 . 5.070 -2.250 -0.218 -1.273 -0.848 0.073 0.068 0.515 648 . . . . GJA10 180 0 160 10 0.0588235294117647 TRUE TRUE +ENSG00000034693.15 . BCM GRCh38.p13 chr6 143471065 143471065 + G G A Missense_Mutation SNP ENST00000367591.5 exon5 c.G436A p.A146T exonic ENSG00000034693.15 . nonsynonymous SNV ENSG00000034693.15:ENST00000367591.5:exon5:c.G436A:p.A146T 6q24.2 C3L-00416 . . . . . . . . . 3.20 T T B B N D L T N 0.145 T T T 0.051 0.267 0.524 0.342 T T T T D T 2.479 22.400 0.819 D N -0.308 1.594 -0.089 2.078 0.007 0.732 0.744 0.710 0.613 . 5.480 4.600 3.739 0.245 0.618 1.000 0.998 0.996 868 . . . . PEX3 322 0 222 45 0.168539325842697 NA TRUE +ENSG00000146426.18 . BCM GRCh38.p13 chr6 155254422 155254422 + C C G Missense_Mutation SNP ENST00000461783.7 exon28 c.C4317G p.D1439E exonic ENSG00000146426.18 . nonsynonymous SNV ENSG00000146426.18:ENST00000461783.7:exon28:c.C4317G:p.D1439E 6q25.3 C3L-00416 . . . . . . . . . 7.20 D T D P N D L T N 0.562 T T T 0.111 0.310 0.661 0.458 T T T T D D 2.341 21.800 0.996 D D 0.403 4.365 0.456 4.779 1.000 0.563 0.577 0.607 0.636 . 5.660 5.660 2.764 1.026 0.599 1.000 0.920 0.877 951 Pleckstrin_homology_domain . . . TIAM2 80 0 78 22 0.22 TRUE TRUE +ENSG00000187258.14 . BCM GRCh38.p13 chr7 34827531 34827531 + C C A Missense_Mutation SNP ENST00000360581.6 exon5 c.C609A p.D203E exonic ENSG00000187258.14 . nonsynonymous SNV ENSG00000187258.14:ENST00000360581.6:exon5:c.C609A:p.D203E 7p14.3 C3L-00416 8.237e-06 0 0 0 0 1.498e-05 0 0 rs150717138 3.20 T T P B D D N T N 0.585 T T D 0.273 0.568 0.264 0.090 T T T T T T -0.380 0.211 0.959 N N -1.175 0.245 -1.206 0.278 0.041 0.497 0.590 0.547 0.613 . 5.440 -9.020 -0.848 -0.737 -0.202 0.088 0.990 0.997 867 GPCR,_rhodopsin-like,_7TM . . . NPSR1 320 1 344 70 0.169082125603865 TRUE TRUE +ENSG00000146700.9 . BCM GRCh38.p13 chr7 76390136 76390136 + G G A Missense_Mutation SNP ENST00000275560.4 exon11 c.C1651T p.L551F exonic ENSG00000146700.9 . nonsynonymous SNV ENSG00000146700.9:ENST00000275560.4:exon11:c.C1651T:p.L551F 7q11.23 C3L-00416 . . . . . . . . . 5.20 T T D P N D N T N 0.192 T T T 0.238 0.681 0.625 1.393 T T T T D T 3.104 23.600 0.996 D D 0.083 2.818 0.096 2.719 1.000 0.661 0.588 0.644 0.568 . 5.810 4.920 3.795 1.176 0.676 1.000 0.719 0.833 866 SRCR_domain;SRCR-like_domain . . . SSC4D 208 0 279 54 0.162162162162162 TRUE TRUE +ENSG00000169894.18 . BCM GRCh38.p13 chr7 100964745 100964745 + G G T Missense_Mutation SNP ENST00000379458.9 exon6 c.G9284T p.S3095I exonic ENSG00000169894.18 . nonsynonymous SNV ENSG00000169894.18:ENST00000379458.9:exon6:c.G9284T:p.S3095I 7q22.1 C3L-00416 . . . . . . . . . 1.2 . D . . . . . . . 0.482 . . . . . . . . . . . . T 3.336 24.200 . . . . . . . . . . . . . . . 1.672 1.047 0.610 0.552 0.607 0.462 807 SEA_domain . . . MUC3A 148 0 160 16 0.0909090909090909 TRUE TRUE +ENSG00000164897.14 . BCM GRCh38.p13 chr7 151082344 151082344 + G G C Missense_Mutation SNP ENST00000297533.9 exon2 c.C220G p.L74V exonic ENSG00000164897.14 . nonsynonymous SNV ENSG00000164897.14:ENST00000297533.9:exon2:c.C220G:p.L74V 7q36.1 C3L-00416 . . . . . . . . . 5.20 T T D P N D M T N 0.256 T T D 0.052 0.165 0.203 0.915 T T T T T T 2.469 22.300 0.975 D N -0.238 1.771 -0.316 1.531 1.000 0.742 0.672 0.775 0.639 . 4.810 1.570 0.879 0.043 0.608 0.993 0.997 0.987 917 . . . . TMUB1 45 0 46 9 0.163636363636364 TRUE NA +ENSG00000173273.16 . BCM GRCh38.p13 chr8 9706197 9706197 + C C G Missense_Mutation SNP ENST00000310430.11 exon7 c.C1213G p.P405A exonic ENSG00000173273.16 . nonsynonymous SNV ENSG00000173273.16:ENST00000310430.11:exon7:c.C1213G:p.P405A 8p23.1 C3L-00416 . . . . . . . . . 13.20 T T D D D D N T D 0.755 T T T 0.425 0.763 0.461 1.156 D D D D D D 3.080 23.600 0.990 D D 0.754 7.944 0.787 9.740 1.000 0.706 0.709 0.710 0.613 . 5.870 5.870 7.905 1.008 0.599 1.000 1.000 0.999 747 Ankyrin_repeat-containing_domain . . . TNKS 124 0 36 3 0.0769230769230769 TRUE NA +ENSG00000147416.11 . BCM GRCh38.p13 chr8 20211282 20211282 + C C T Missense_Mutation SNP ENST00000276390.7 exon6 c.C569T p.P190L exonic ENSG00000147416.11 . nonsynonymous SNV ENSG00000147416.11:ENST00000276390.7:exon6:c.C569T:p.P190L 8p21.3 C3L-00416 . . . . . . . . . 18.20 D D D D D D L T D 0.894 D D D 0.838 0.775 0.851 2.081 D D D D D D 4.024 27.100 0.997 D D 0.822 9.225 0.831 11.120 1.000 0.719 0.725 0.723 0.714 . 5.650 5.650 7.858 1.026 0.599 1.000 0.996 0.998 963 ATPase,_F1/V1/A1_complex,_alpha/beta_subunit,_nucleotide-binding_domain . . . ATP6V1B2 153 0 142 11 0.0718954248366013 NA TRUE +ENSG00000147421.18 . BCM GRCh38.p13 chr8 28970211 28970211 + G G T Missense_Mutation SNP ENST00000287701.15 exon3 c.G192T p.R64S exonic ENSG00000147421.18 . nonsynonymous SNV ENSG00000147421.18:ENST00000287701.15:exon3:c.G192T:p.R64S 8p21.1 C3L-00416 . . . . . . . . . 8.20 D D B B D D L T N 0.279 T T T 0.107 0.392 0.408 0.395 T T T T D D 2.635 22.700 0.993 D D 0.006 2.531 0.190 3.133 1.000 0.707 0.725 0.659 0.674 . 5.620 5.620 2.244 1.176 0.676 1.000 1.000 1.000 563 Hepatocyte_nuclear_factor_1,_N-terminal . . . HMBOX1 279 0 318 71 0.182519280205656 TRUE TRUE +ENSG00000106993.12 . BCM GRCh38.p13 chr9 4684884 4684884 + G G T Missense_Mutation SNP ENST00000381854.4 exon2 c.G140T p.S47I exonic ENSG00000106993.12 . nonsynonymous SNV ENSG00000106993.12:ENST00000381854.4:exon2:c.G140T:p.S47I 9p24.1 C3L-00416 . . . . . . . . . 5.20 D T B B D D N T N 0.303 T T T 0.115 0.279 0.225 0.320 T T T T D T 2.337 21.800 0.993 D N -0.080 2.240 0.134 2.878 1.000 0.706 0.614 0.710 0.636 . 5.860 5.860 1.186 1.176 0.676 0.995 1.000 0.998 781 . . . . CDC37L1 83 0 54 17 0.23943661971831 TRUE TRUE +ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971175 21971175 + G G T Missense_Mutation SNP ENST00000304494.9 exon2 c.C184A p.L62M exonic ENSG00000147889.17 . nonsynonymous SNV ENSG00000147889.17:ENST00000304494.9:exon2:c.C184A:p.L62M 9p21.3 C3L-00416 . . . . . . . . . 11.18 D D D D . N . D N 0.425 D D D 0.496 . 0.976 1.155 T T D T D T 3.279 24.100 0.994 D N 0.289 3.722 0.266 3.523 1.000 0.677 0.383 0.608 0.601 . 5.790 3.900 1.928 0.224 0.676 0.953 0.098 0.618 900 Ankyrin_repeat-containing_domain . . . CDKN2A 267 0 399 86 0.177319587628866 NA TRUE +ENSG00000171501.10 . BCM GRCh38.p13 chr9 122554014 122554014 + C C G Missense_Mutation SNP ENST00000373688.3 exon1 c.C803G p.T268S exonic ENSG00000171501.10 . nonsynonymous SNV ENSG00000171501.10:ENST00000373688.3:exon1:c.C803G:p.T268S 9q33.2 C3L-00416 . . . . . . . . . 0.16 . . B B N N N . . . T T T 0.040 0.268 0.385 0.105 T T T T T T -0.557 0.090 0.227 N N -1.178 0.243 -1.159 0.319 0.001 0.487 0.574 0.574 0.542 . 4.560 -0.981 -1.209 -0.356 0.572 0.000 0.006 0.003 905 GPCR,_rhodopsin-like,_7TM . . . OR1N2 340 0 273 30 0.099009900990099 TRUE TRUE +ENSG00000130635.16 . BCM GRCh38.p13 chr9 134805176 134805176 + A A T Nonsense_Mutation SNP ENST00000371817.8 exon41 c.A3220T p.K1074X exonic ENSG00000130635.16 . stopgain ENSG00000130635.16:ENST00000371817.8:exon41:c.A3220T:p.K1074X 9q34.3 C3L-00416 . . . . . . . . . 4.6 . . . . U A . . . 0.902 . . . . . . . . . D D . . 9.315 49 0.997 D N 0.816 9.099 0.662 7.091 1.000 0.672 0.610 0.723 0.711 . 5.190 5.190 9.176 1.312 0.743 1.000 0.994 0.567 858 . . . . COL5A1 440 0 422 49 0.104033970276008 TRUE TRUE +ENSG00000107863.18 . BCM GRCh38.p13 chr10 24584466 24584478 + AGGTTGGGCATTC AGGTTGGGCATTC - Frame_Shift_Del DEL ENST00000396432.7 exon26 c.5811_5823del p.N1938Ifs*25 exonic ENSG00000107863.18 . frameshift deletion ENSG00000107863.18:ENST00000396432.7:exon26:c.5811_5823del:p.N1938Ifs*25 10p12.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP21 129 0 114 33 0.224489795918367 NA TRUE +ENSG00000151208.17 . BCM GRCh38.p13 chr10 77841913 77841913 + C C T Missense_Mutation SNP ENST00000372391.7 exon7 c.G1405A p.A469T exonic ENSG00000151208.17 . nonsynonymous SNV ENSG00000151208.17:ENST00000372391.7:exon7:c.G1405A:p.A469T 10q22.3 C3L-00416 . . . . . . . . . 4.19 T T P B N D N T N 0.127 T T T 0.123 0.201 0.293 1.569 T T T T D . 2.161 20.600 0.999 D D -0.006 2.492 0.147 2.937 1.000 0.719 0.654 0.723 0.714 . 5.670 4.750 5.844 1.026 0.599 1.000 0.956 0.835 664 . . . . DLG5 104 0 74 28 0.274509803921569 TRUE TRUE +ENSG00000138162.19 . BCM GRCh38.p13 chr10 122085315 122085315 + C C T Nonsense_Mutation SNP ENST00000369005.6 exon4 c.C2815T p.Q939X exonic ENSG00000138162.19 . stopgain ENSG00000138162.19:ENST00000369005.6:exon4:c.C2815T:p.Q939X 10q26.13 C3L-00416 . . . . . . . . . 3.5 . . . . N A . . . 0.690 . . . . . . . . . D D . . 6.022 35 0.997 N . 0.391 4.287 0.066 2.597 1.000 0.554 0.590 0.602 0.542 . 5.070 4.140 0.596 0.936 0.577 0.000 0.003 0.019 944 . . . . TACC2 185 0 211 16 0.0704845814977974 TRUE TRUE +ENSG00000072952.18 . BCM GRCh38.p13 chr11 10626169 10626169 + G G C Missense_Mutation SNP ENST00000531107.5 exon8 c.C1141G p.L381V exonic ENSG00000072952.18 . nonsynonymous SNV ENSG00000072952.18:ENST00000531107.5:exon8:c.C1141G:p.L381V 11p15.4 C3L-00416 . . . . . . . . . 10.17 D D . . D D . T N 0.791 T T D 0.262 . 0.275 0.440 T T D T D D 2.375 22.000 0.996 D D 0.084 2.822 -0.052 2.191 0.835 0.581 0.590 0.576 0.542 . 5.410 3.540 2.025 1.176 0.676 0.991 0.024 0.168 462 . . . . MRVI1 18 0 11 4 0.266666666666667 TRUE TRUE +ENSG00000072952.18 . BCM GRCh38.p13 chr11 10626171 10626171 + G G T Missense_Mutation SNP ENST00000531107.5 exon8 c.C1139A p.P380Q exonic ENSG00000072952.18 . nonsynonymous SNV ENSG00000072952.18:ENST00000531107.5:exon8:c.C1139A:p.P380Q 11p15.4 C3L-00416 . . . . . . . . . 10.17 D D . . D D . T N 0.764 T T D 0.351 . 0.340 0.420 T T D D D T 3.379 24.300 0.988 D D 0.548 5.431 0.451 4.742 1.000 0.581 0.590 0.576 0.542 . 5.410 5.410 7.429 1.176 0.676 1.000 0.025 0.043 462 . . . . MRVI1 17 0 12 5 0.294117647058824 NA TRUE +ENSG00000133816.15 . BCM GRCh38.p13 chr11 12221695 12221695 + G G C Missense_Mutation SNP ENST00000256194.8 exon10 c.G1258C p.D420H exonic ENSG00000133816.15 . nonsynonymous SNV ENSG00000133816.15:ENST00000256194.8:exon10:c.G1258C:p.D420H 11p15.3 C3L-00416 . . . . . . . . . 18.20 D D D D D D M T D 0.994 D D D 0.735 0.610 0.821 1.544 D T D D D D 4.395 31 0.997 D D 0.960 12.713 0.897 13.638 1.000 0.722 0.547 0.574 0.735 . 4.930 4.930 10.003 1.176 0.676 1.000 1.000 0.998 871 . . . . MICAL2 142 0 140 9 0.0604026845637584 TRUE TRUE +ENSG00000187240.16 . BCM GRCh38.p13 chr11 103187586 103187586 + G G - Frame_Shift_Del DEL ENST00000375735.7 exon43 c.7140delG p.V2381Yfs*2 exonic ENSG00000187240.16 . frameshift deletion ENSG00000187240.16:ENST00000375735.7:exon43:c.7140delG:p.V2381Yfs*2 11q22.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNC2H1 164 0 76 27 0.262135922330097 TRUE NA +ENSG00000151079.7 . BCM GRCh38.p13 chr12 4811552 4811552 + C C T Missense_Mutation SNP ENST00000280684.3 exon1 c.C1511T p.A504V exonic ENSG00000151079.7 . nonsynonymous SNV ENSG00000151079.7:ENST00000280684.3:exon1:c.C1511T:p.A504V 12p13.32 C3L-00416 . . . . . . . . . 3.20 T T B B N N N D N 0.046 T D D 0.194 0.226 0.318 1.067 T T T T T T 1.623 16.520 0.896 N N -0.881 0.544 -0.746 0.834 0.027 0.537 0.588 0.383 0.616 . 5.180 2.140 0.773 0.123 0.599 0.539 0.064 0.473 814 . . . . KCNA6 196 0 198 49 0.198380566801619 TRUE TRUE +ENSG00000170653.19 . BCM GRCh38.p13 chr12 53533209 53533209 + G G A Missense_Mutation SNP ENST00000420353.7 exon7 c.C611T p.T204I exonic ENSG00000170653.19;ENSG00000267281.2 . nonsynonymous SNV ENSG00000170653.19:ENST00000420353.7:exon7:c.C611T:p.T204I,ENSG00000267281.2:ENST00000591834.1:exon7:c.C611T:p.T204I 12q13.13 C3L-00416 . . . . . . . . . 9.20 T T P P D D M T N 0.442 T T T 0.195 0.276 0.461 0.464 T D D T D D 2.752 22.900 0.998 D D 0.450 4.670 0.531 5.454 1.000 0.707 0.654 0.609 0.714 . 4.870 4.870 8.739 1.176 0.676 1.000 1.000 0.997 489 . . . . ATF7 158 0 156 28 0.152173913043478 TRUE TRUE +ENSG00000155957.17 . BCM GRCh38.p13 chr12 66153400 66153400 + G G T Missense_Mutation SNP ENST00000358230.7 exon2 c.C146A p.T49N exonic ENSG00000155957.17;ENSG00000228144.2 . nonsynonymous SNV ENSG00000155957.17:ENST00000358230.7:exon2:c.C146A:p.T49N,ENSG00000228144.2:ENST00000539652.1:exon2:c.C146A:p.T49N 12q14.3 C3L-00416 . . . . . . . . . 16.20 D D D D D D H T D 0.886 D D D 0.560 0.788 0.784 0.918 T T D T D D 4.006 27.000 0.993 D D 0.838 9.561 0.716 8.055 1.000 0.706 0.710 0.710 0.632 . 5.460 5.460 7.191 1.083 0.676 1.000 0.812 0.878 906 . . . . TMBIM4 188 0 35 4 0.102564102564103 TRUE TRUE +ENSG00000188596.11 . BCM GRCh38.p13 chr12 96519055 96519055 + C C T Missense_Mutation SNP ENST00000524981.9 exon6 c.C926T p.A309V exonic ENSG00000188596.11 . nonsynonymous SNV ENSG00000188596.11:ENST00000524981.9:exon6:c.C926T:p.A309V 12q23.1 C3L-00416 . . . . . . . . rs977453151 1.15 T D . . N N . . N 0.176 T T T 0.016 0.584 0.014 0.053 . T T T T T 0.764 9.044 0.922 N N -1.037 0.366 -1.105 0.370 0.011 0.563 0.588 0.573 0.636 . 5.370 -0.596 -0.079 -0.342 -0.223 0.000 0.043 0.069 916 . . . . CFAP54 140 0 146 30 0.170454545454545 TRUE NA +ENSG00000135090.14 . BCM GRCh38.p13 chr12 118152247 118152247 + T T A Nonsense_Mutation SNP ENST00000392533.8 exon20 c.A2515T p.R839X exonic ENSG00000135090.14 . stopgain ENSG00000135090.14:ENST00000392533.8:exon20:c.A2515T:p.R839X 12q24.23 C3L-00416 . . . . . . . . . 5.6 . . . . D D . . . 0.549 . . . . . . . . . D D . . 8.038 40 0.997 D N 0.779 8.388 0.651 6.928 0.533 0.707 0.702 0.496 0.714 . 5.150 5.150 2.850 1.138 0.665 1.000 1.000 1.000 969 . . . . TAOK3 83 0 64 5 0.072463768115942 NA TRUE +ENSG00000175727.14 . BCM GRCh38.p13 chr12 122138512 122138512 + G G A Missense_Mutation SNP ENST00000319080.12 exon14 c.G2345A p.R782Q exonic ENSG00000175727.14 . nonsynonymous SNV ENSG00000175727.14:ENST00000319080.12:exon14:c.G2345A:p.R782Q 12q24.31 C3L-00416 3.583e-05 0 0.0003 0 0 0 0 6.447e-05 rs756776307 11.18 T T D D D D . D N 0.321 D D D 0.403 0.302 0.664 0.516 T T T D D . 3.153 23.700 0.999 D N 0.434 4.563 0.438 4.638 1.000 0.707 0.694 0.644 0.714 . 5.030 5.030 2.421 1.176 0.676 0.997 0.999 0.996 743 . . . ID=COSV59834782;OCCURENCE=1(stomach) MLXIP 88 0 127 8 0.0592592592592593 TRUE TRUE +ENSG00000183495.14 . BCM GRCh38.p13 chr12 132062162 132062162 + G G A Missense_Mutation SNP ENST00000389561.7 exon46 c.G7937A p.R2646Q exonic ENSG00000183495.14 . nonsynonymous SNV ENSG00000183495.14:ENST00000389561.7:exon46:c.G7937A:p.R2646Q 12q24.33 C3L-00416 8.381e-06 0 0 0 0 1.523e-05 0 0 rs372924222 11.18 D T D D D D . D N 0.335 D D D 0.397 . 0.505 0.863 T . T T D T 3.420 24.500 0.999 D N 0.379 4.216 0.368 4.137 1.000 0.707 0.702 0.725 0.714 . 4.800 4.800 5.943 1.176 0.676 1.000 0.356 0.219 964 . . . . EP400 214 0 188 41 0.179039301310044 TRUE NA +ENSG00000123191.16 . BCM GRCh38.p13 chr13 51946388 51946388 + A A G Missense_Mutation SNP ENST00000242839.10 exon13 c.T2956C p.S986P exonic ENSG00000123191.16 . nonsynonymous SNV ENSG00000123191.16:ENST00000242839.10:exon13:c.T2956C:p.S986P 13q14.3 C3L-00416 . . . . . . . . . 19.20 D D D D D D N D D 0.930 D D D 0.866 0.861 0.980 0.411 D D D D D D 4.073 27.500 0.995 D D 0.436 4.575 0.483 5.008 0.984 0.638 0.610 0.653 0.568 . 5.150 5.150 4.803 1.312 0.756 1.000 0.999 0.994 459 . . . . ATP7B 244 0 218 56 0.204379562043796 TRUE TRUE +ENSG00000151748.15 . BCM GRCh38.p13 chr14 50667925 50667925 + C C T Missense_Mutation SNP ENST00000324679.5 exon1 c.G43A p.A15T exonic ENSG00000151748.15 . nonsynonymous SNV ENSG00000151748.15:ENST00000324679.5:exon1:c.G43A:p.A15T 14q22.1 C3L-00416 . . . . . . . . . 8.20 D T B B D D L T D 0.102 T T D 0.042 0.197 0.206 0.273 T T T T D D 2.361 21.900 0.998 D N -0.172 1.958 -0.006 2.340 1.000 0.733 0.522 0.522 0.622 . 4.650 3.690 2.423 0.943 0.595 1.000 1.000 1.000 424 . . . ID=COSV61204562;OCCURENCE=1(upper_aerodigestive_tract) SAV1 167 0 205 33 0.138655462184874 NA TRUE +ENSG00000129003.19 . BCM GRCh38.p13 chr15 61854508 61854508 + T T - Frame_Shift_Del DEL ENST00000644861.2 exon85 c.11211delA p.K3737Nfs*2 exonic ENSG00000129003.19 . frameshift deletion ENSG00000129003.19:ENST00000644861.2:exon85:c.11211delA:p.K3737Nfs*2 15q22.2 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS13C 307 0 268 44 0.141025641025641 TRUE TRUE +ENSG00000005339.15 . BCM GRCh38.p13 chr16 3751760 3751760 + C C T Missense_Mutation SNP ENST00000262367.10 exon20 c.G3745A p.V1249M exonic ENSG00000005339.15 . nonsynonymous SNV ENSG00000005339.15:ENST00000262367.10:exon20:c.G3745A:p.V1249M 16p13.3 C3L-00416 . . . . . . . . . 20.20 D D D D D D M D D 0.755 D D D 0.723 0.303 0.961 1.139 D D D D D D 3.785 25.800 0.996 D D 0.911 11.338 0.865 12.347 1.000 0.707 0.725 0.644 0.714 . 5.460 5.460 7.568 1.026 0.599 1.000 1.000 1.000 698 CREB-binding_protein/p300,_atypical_RING_domain . . . CREBBP 366 0 327 59 0.152849740932642 TRUE TRUE +ENSG00000090905.19 . BCM GRCh38.p13 chr16 24815286 24815286 + C C A Missense_Mutation SNP ENST00000395799.8 exon19 c.C4812A p.S1604R exonic ENSG00000090905.19 . nonsynonymous SNV ENSG00000090905.19:ENST00000395799.8:exon19:c.C4812A:p.S1604R 16p12.1 C3L-00416 . . . . . . . . . 10.20 D D D P D D M T N 0.746 T T T 0.223 0.245 0.213 0.452 T T T T D D 3.949 26.600 0.999 D D 0.678 6.820 0.733 8.426 1.000 0.707 0.725 0.702 0.714 . 5.920 5.920 6.798 1.026 0.599 1.000 1.000 0.999 350 TNRC6,_PABC_binding_domain . . . TNRC6A 237 0 260 40 0.133333333333333 TRUE TRUE +ENSG00000174938.14 . BCM GRCh38.p13 chr16 29876858 29876858 + G G T Missense_Mutation SNP ENST00000308713.9 exon12 c.C2002A p.L668I exonic ENSG00000174938.14 . nonsynonymous SNV ENSG00000174938.14:ENST00000308713.9:exon12:c.C2002A:p.L668I 16p11.2 C3L-00416 . . . . . . . . . 5.20 T T P P D D N T N 0.246 T T T 0.174 0.778 0.634 0.420 T T T T D D 3.127 23.700 0.878 D N -0.014 2.460 0.163 3.007 1.000 0.726 0.563 0.594 0.601 . 5.570 5.570 0.855 1.176 0.676 1.000 0.994 0.994 247 Sushi/SCR/CCP_domain . . . SEZ6L2 98 0 134 20 0.12987012987013 TRUE TRUE +ENSG00000149926.13 . BCM GRCh38.p13 chr16 30025428 30025428 + C C - Frame_Shift_Del DEL ENST00000380495.8 exon5 c.580delG p.A194Pfs*2 exonic ENSG00000149926.13 . frameshift deletion ENSG00000149926.13:ENST00000380495.8:exon5:c.580delG:p.A194Pfs*2 16p11.2 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLCD3B 333 0 296 58 0.163841807909605 TRUE TRUE +ENSG00000167508.12 . BCM GRCh38.p13 chr16 88657507 88657507 + T T C Missense_Mutation SNP ENST00000301012.8 exon4 c.A332G p.H111R exonic ENSG00000167508.12 . nonsynonymous SNV ENSG00000167508.12:ENST00000301012.8:exon4:c.A332G:p.H111R 16q24.2 C3L-00416 . . . . . . . . . 9.20 T T P B D D L T D 0.606 T T T 0.349 0.615 0.306 0.329 T T D D D D 2.984 23.400 0.906 D D -0.028 2.414 -0.008 2.333 1.000 0.707 0.702 0.723 0.714 . 5.180 5.180 4.436 1.109 0.665 1.000 0.294 0.235 835 GHMP_kinase_N-terminal_domain . . . MVD 153 0 157 34 0.178010471204188 TRUE TRUE +ENSG00000198211.8 . BCM GRCh38.p13 chr16 89934792 89934792 + A A G Missense_Mutation SNP ENST00000315491.12 exon4 c.A341G p.D114G exonic ENSG00000198211.8;ENSG00000258947.7 . nonsynonymous SNV ENSG00000258947.7:ENST00000315491.12:exon4:c.A341G:p.D114G,ENSG00000198211.8:ENST00000556922.1:exon5:c.A1382G:p.D461G 16q24.3 C3L-00416 . . . . . . . . . 15.20 D D B B D D H T D 0.967 T T D 0.733 0.647 0.960 1.900 D D D D D D 3.968 26.800 0.782 D D 0.198 3.292 0.211 3.238 1.000 0.672 0.588 0.698 0.711 . 4.720 4.720 9.249 1.278 0.756 1.000 0.714 0.304 612 Tubulin/FtsZ,_GTPase_domain . . . AC092143.1 144 0 167 39 0.189320388349515 TRUE TRUE +ENSG00000167858.13 . BCM GRCh38.p13 chr17 6815954 6815954 + C C T Missense_Mutation SNP ENST00000338694.7 exon4 c.G365A p.R122H exonic ENSG00000167858.13 . nonsynonymous SNV ENSG00000167858.13:ENST00000338694.7:exon4:c.G365A:p.R122H 17p13.1 C3L-00416 8.251e-05 0 0.0003 0 0 4.501e-05 0 0.0002 rs540398916 14.20 D D D D D D M T D 0.925 T T D 0.337 0.962 0.681 0.503 T T T D D D 3.666 25.300 0.999 D D 0.839 9.603 0.720 8.134 1.000 0.487 0.574 0.574 0.542 . 5.040 5.040 6.214 1.026 0.599 1.000 0.173 0.114 873 . . . ID=COSV58623335;OCCURENCE=2(large_intestine) TEKT1 142 0 177 11 0.0585106382978723 TRUE TRUE +ENSG00000007171.18 . BCM GRCh38.p13 chr17 27780872 27780872 + C C A Missense_Mutation SNP ENST00000313735.11 exon9 c.G899T p.G300V exonic ENSG00000007171.18 . nonsynonymous SNV ENSG00000007171.18:ENST00000313735.11:exon9:c.G899T:p.G300V 17q11.2 C3L-00416 . . . . . . . . . 14.20 D D D D D D M T D 0.717 T T D 0.394 0.703 0.633 1.375 T T D T D D 3.700 25.400 0.998 D D 0.795 8.674 0.705 7.838 0.939 0.615 0.563 0.659 0.613 . 5.330 5.330 6.081 1.026 0.599 1.000 0.996 0.986 184 Nitric_oxide_synthase,_N-terminal . . . NOS2 112 0 93 27 0.225 TRUE TRUE +ENSG00000186868.15 . BCM GRCh38.p13 chr17 45983270 45983270 + G G A Missense_Mutation SNP ENST00000262410.9 exon6 c.G466A p.A156T exonic ENSG00000186868.15 . nonsynonymous SNV ENSG00000186868.15:ENST00000262410.9:exon6:c.G466A:p.A156T 17q21.31 C3L-00416 . . . . . . . . . 4.20 D T P B N D L T N 0.114 T T T 0.029 0.084 0.593 0.163 T T T T D T 1.006 11.700 0.986 D N -0.285 1.651 -0.238 1.697 0.105 0.497 0.590 0.578 0.542 . 4.940 3.960 0.555 0.107 0.676 0.030 0.002 0.019 390 . . . ID=COSV99043696;OCCURENCE=1(lung) MAPT 107 0 117 30 0.204081632653061 TRUE TRUE +ENSG00000159640.16 . BCM GRCh38.p13 chr17 63487025 63487025 + G G A Missense_Mutation SNP ENST00000577647.2 exon4 c.G535A p.V179M exonic ENSG00000159640.16;ENSG00000264813.6 . nonsynonymous SNV ENSG00000264813.6:ENST00000577647.2:exon4:c.G535A:p.V179M,ENSG00000159640.16:ENST00000290866.10:exon15:c.G2257A:p.V753M 17q23.3 C3L-00416 . . . . . . . . rs140129129 2.20 T T B B N D L T N 0.378 T T T 0.026 . 0.693 0.118 T T T T T D 1.561 16.120 0.916 N N -0.351 1.494 -0.281 1.604 0.151 0.646 0.547 0.645 0.636 . 5.560 0.956 0.676 -0.289 0.590 0.258 0.198 0.834 939 . . . . ACE 271 0 354 43 0.10831234256927 TRUE NA +ENSG00000176014.13 . BCM GRCh38.p13 chr18 12325366 12325366 + G G C Missense_Mutation SNP ENST00000317702.10 exon4 c.G577C p.V193L exonic ENSG00000176014.13 . nonsynonymous SNV ENSG00000176014.13:ENST00000317702.10:exon4:c.G577C:p.V193L 18p11.21 C3L-00416 8.237e-06 0 0 0 0 0 0 6.056e-05 rs752317064 10.20 D T B B D D L T N 0.733 T T D 0.527 0.611 0.729 0.933 T T D D D D 3.135 23.700 0.968 D D 0.188 3.249 0.353 4.040 1.000 0.672 0.702 0.698 0.711 . 5.030 5.030 9.864 1.149 0.672 1.000 1.000 0.960 690 Tubulin/FtsZ,_GTPase_domain . . . TUBB6 304 0 420 45 0.0967741935483871 TRUE NA +ENSG00000176014.13 . BCM GRCh38.p13 chr18 12325370 12325370 + A A T Missense_Mutation SNP ENST00000317702.10 exon4 c.A581T p.E194V exonic ENSG00000176014.13 . nonsynonymous SNV ENSG00000176014.13:ENST00000317702.10:exon4:c.A581T:p.E194V 18p11.21 C3L-00416 . . . . . . . . . 17.20 D D D P D D H T D 0.940 D D D 0.899 0.688 0.886 2.242 T D D D D D 4.097 27.700 0.982 D D 0.986 13.502 0.852 11.838 1.000 0.672 0.702 0.698 0.711 . 5.030 5.030 9.197 1.282 0.751 1.000 1.000 0.942 690 Tubulin/FtsZ,_GTPase_domain . . . TUBB6 319 0 453 52 0.102970297029703 TRUE TRUE +ENSG00000101493.11 . BCM GRCh38.p13 chr18 76380037 76380037 + A A T Missense_Mutation SNP ENST00000443185.7 exon4 c.T2077A p.F693I exonic ENSG00000101493.11 . nonsynonymous SNV ENSG00000101493.11:ENST00000443185.7:exon4:c.T2077A:p.F693I 18q23 C3L-00416 . . . . . . . . . 1.19 D T P B N N . T N 0.362 T T T 0.187 0.110 0.040 0.096 T T T T T T 0.742 8.839 0.906 N N -1.116 0.292 -1.302 0.208 0.999 0.707 0.725 0.571 0.700 . 4.440 -6.160 0.661 -0.510 -0.095 0.044 0.001 0.001 991 . . . . ZNF516 221 0 158 37 0.18974358974359 TRUE TRUE +ENSG00000095932.7 . BCM GRCh38.p13 chr19 3478872 3478872 + A A C Missense_Mutation SNP ENST00000215531.6 exon2 c.T125G p.L42R exonic ENSG00000095932.7 . nonsynonymous SNV ENSG00000095932.7:ENST00000215531.6:exon2:c.T125G:p.L42R 19p13.3 C3L-00416 . . . . . . . . rs998683000 10.17 D D D D . D L . D 0.819 T T D 0.359 0.654 0.170 . . T T T D T 3.656 25.200 0.996 D D 0.277 3.665 0.143 2.918 1.000 0.581 0.627 0.585 0.563 . 3.880 1.660 3.971 1.213 0.646 1.000 0.395 0.272 964 . . . . SMIM24 121 0 129 26 0.167741935483871 TRUE NA +ENSG00000008382.15 . BCM GRCh38.p13 chr19 4357370 4357370 + C C T Missense_Mutation SNP ENST00000262966.12 exon9 c.C1114T p.R372W exonic ENSG00000008382.15 . nonsynonymous SNV ENSG00000008382.15:ENST00000262966.12:exon9:c.C1114T:p.R372W 19p13.3 C3L-00416 1.745e-05 0 0.0002 0 0 0 0 0 rs747112102 9.19 D D B B U D L . D 0.685 T T D 0.298 0.499 0.343 0.015 T T T T D D 3.331 24.200 0.997 D D -0.249 1.743 -0.178 1.840 0.977 0.635 0.644 0.644 0.636 . 3.670 1.160 2.048 0.023 0.599 1.000 0.999 0.998 884 MPN_domain . . ID=COSV53658491;OCCURENCE=1(large_intestine),1(skin) MPND 100 0 156 14 0.0823529411764706 TRUE TRUE +ENSG00000196605.7 . BCM GRCh38.p13 chr19 9757997 9757997 + G G C Missense_Mutation SNP ENST00000397902.6 exon6 c.C1080G p.H360Q exonic ENSG00000196605.7 . nonsynonymous SNV ENSG00000196605.7:ENST00000397902.6:exon6:c.C1080G:p.H360Q 19p13.2 C3L-00416 . . . . . . . . . 6.19 D D P B . D M T D 0.465 T T T 0.358 0.732 0.431 0.076 T T T T D T 2.122 20.300 0.991 N N -0.050 2.336 -0.230 1.717 0.025 0.615 0.588 0.464 0.655 . 2.010 0.925 0.999 0.766 0.554 0.999 0.997 0.998 906 Zinc_finger_C2H2-type . . . ZNF846 141 0 108 10 0.0847457627118644 TRUE TRUE +ENSG00000105072.9 . BCM GRCh38.p13 chr19 16509648 16509648 + G G - Frame_Shift_Del DEL ENST00000221671.8 exon5 c.1299delG p.E434Sfs*28 exonic ENSG00000105072.9 . frameshift deletion ENSG00000105072.9:ENST00000221671.8:exon5:c.1299delG:p.E434Sfs*28 19p13.11 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf44 129 0 99 17 0.146551724137931 TRUE TRUE +ENSG00000178904.19 . BCM GRCh38.p13 chr19 32437231 32437231 + T T C Missense_Mutation SNP ENST00000392250.7 exon6 c.T488C p.L163S exonic ENSG00000178904.19 . nonsynonymous SNV ENSG00000178904.19:ENST00000392250.7:exon6:c.T488C:p.L163S 19q13.11 C3L-00416 . . . . . . . . . 12.20 D D B B D D M T D 0.760 T T D 0.288 0.612 0.624 1.026 T T D T D D 3.470 24.600 0.999 D D 0.312 3.844 0.438 4.640 1.000 0.615 0.602 0.659 0.636 . 5.690 5.690 7.628 1.138 0.665 1.000 0.962 0.990 950 . . . . DPY19L3 164 0 136 26 0.160493827160494 TRUE TRUE +ENSG00000105227.15 . BCM GRCh38.p13 chr19 40396062 40396062 + G G A Missense_Mutation SNP ENST00000324001.8 exon7 c.C2290T p.P764S exonic ENSG00000105227.15 . nonsynonymous SNV ENSG00000105227.15:ENST00000324001.8:exon7:c.C2290T:p.P764S 19q13.2 C3L-00416 8.259e-06 0 0 0 0 1.504e-05 0 0 rs142884199 8.20 T D D D N N M T D 0.405 T T T 0.149 . 0.492 0.691 T D T T D T 2.450 22.300 0.985 D N -0.045 2.354 -0.203 1.779 0.046 0.646 0.634 0.645 0.605 . 4.830 2.660 2.315 0.229 -0.106 0.638 0.215 0.031 754 . . . . PRX 252 0 288 20 0.0649350649350649 TRUE NA +ENSG00000278318.5 . BCM GRCh38.p13 chr19 44430102 44430102 + A A G Missense_Mutation SNP ENST00000614049.5 exon6 c.T679C p.C227R exonic ENSG00000278318.5 . nonsynonymous SNV ENSG00000278318.5:ENST00000614049.5:exon6:c.T679C:p.C227R 19q13.31 C3L-00416 . . . . . . . . . 0.12 . T . . . N . . . 0.218 T T T 0.065 0.513 0.343 . T . T T T T -0.039 1.112 0.781 N N -1.161 0.256 -1.241 0.250 0.000 0.563 0.588 0.618 0.636 . 2.970 -0.796 -1.625 -1.044 0.681 0.000 0.000 0.054 912 . . . . ZNF229 134 0 115 9 0.0725806451612903 TRUE TRUE +ENSG00000142538.2 . BCM GRCh38.p13 chr19 49423300 49423300 + G G - Frame_Shift_Del DEL ENST00000270631.2 exon1 c.40delC p.L14Cfs*74 exonic ENSG00000142538.2 . frameshift deletion ENSG00000142538.2:ENST00000270631.2:exon1:c.40delC:p.L14Cfs*74 19q13.33 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTH2 215 0 196 42 0.176470588235294 TRUE TRUE +ENSG00000125965.9 . BCM GRCh38.p13 chr20 35437664 35437664 + G G A Missense_Mutation SNP ENST00000374369.8 exon1 c.C265T p.P89S exonic ENSG00000125965.9 . nonsynonymous SNV ENSG00000125965.9:ENST00000374369.8:exon1:c.C265T:p.P89S 20q11.22 C3L-00416 . . . . . . . . . 2.19 D T B B N N . T N 0.147 T T T 0.046 0.221 0.352 0.040 T T T T T T 1.454 15.440 0.905 D N -0.593 1.001 -0.461 1.267 1.000 0.554 0.574 0.492 0.568 . 4.390 2.270 0.508 -0.181 -0.165 1.000 0.996 0.992 406 . . . . GDF5 291 0 278 73 0.207977207977208 TRUE TRUE +ENSG00000100167.20 . BCM GRCh38.p13 chr22 41981753 41981753 + G G A Missense_Mutation SNP ENST00000396426.7 exon2 c.G119A p.G40D exonic ENSG00000100167.20 . nonsynonymous SNV ENSG00000100167.20:ENST00000396426.7:exon2:c.G119A:p.G40D 22q13.2 C3L-00416 . . . . . . . . . 17.20 D D D D D D M T D 0.900 T T D 0.605 0.603 0.918 2.167 D D D D D D 4.029 27.200 0.999 D D 0.899 11.033 0.896 13.564 1.000 0.706 0.588 0.710 0.586 . 5.600 5.600 10.003 1.176 0.676 1.000 1.000 0.998 112 . . . . SEPTIN3 160 0 181 28 0.133971291866029 TRUE TRUE +ENSG00000157399.16 . BCM GRCh38.p13 chrX 2953242 2953242 + G G C Missense_Mutation SNP ENST00000381134.9 exon5 c.C331G p.R111G exonic ENSG00000157399.16 . nonsynonymous SNV ENSG00000157399.16:ENST00000381134.9:exon5:c.C331G:p.R111G Xp22.33 C3L-00416 . . . . . . . . . 9.19 T T B B N N N D D 0.500 D D D 0.431 0.519 0.925 1.469 T D D D T D 1.204 13.670 0.779 N . . . . . 1.000 . . . . . 3.510 2.550 2.900 0.949 0.676 0.988 0.080 0.023 1000 Sulfatase,_N-terminal . . . ARSL 128 0 133 14 0.0952380952380952 TRUE NA +ENSG00000198947.15 . BCM GRCh38.p13 chrX 31774182 31774182 + C C G Missense_Mutation SNP ENST00000357033.8 exon51 c.G7320C p.Q2440H exonic ENSG00000198947.15 . nonsynonymous SNV ENSG00000198947.15:ENST00000357033.8:exon51:c.G7320C:p.Q2440H Xp21.1 C3L-00416 . . . . . . . . . 6.18 D D P B U D . T N 0.379 T T D 0.015 0.310 0.708 0.034 T T T T D T 2.679 22.800 0.997 D . . . . . 0.250 . . . . . 5.280 3.160 2.205 1.026 0.599 1.000 1.000 0.999 832 . . . . DMD 90 0 58 25 0.301204819277108 TRUE TRUE +ENSG00000196632.10 . BCM GRCh38.p13 chrX 54249602 54249602 + G G A Missense_Mutation SNP ENST00000354646.6 exon17 c.C2746T p.R916W exonic ENSG00000196632.10 . nonsynonymous SNV ENSG00000196632.10:ENST00000354646.6:exon17:c.C2746T:p.R916W Xp11.22 C3L-00416 8.305e-05 0 0 0.0008 0 4.295e-05 0 0 rs111417684 4.19 D D D B N N N T N 0.164 T T T 0.096 0.280 0.110 0.446 T T T T T T 2.434 22.200 0.998 D . . . . . 0.008 . . . . . 5.020 5.020 2.204 1.176 0.618 1.000 0.963 0.599 6 . . . . WNK3 35 0 45 6 0.117647058823529 TRUE NA +ENSG00000165084.16 . BCM GRCh38.p13 chr8 68709080 68709080 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000165084.16 ENST00000518698.6:exon9:c.1327+1G>T . . 8q13.2 C3L-00416 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.044 33 0.991 D . 0.968 12.947 0.772 9.355 0.987 0.061 0.063 0.063 0.057 0.973 5.200 5.200 4.409 1.176 0.676 1.000 0.982 0.623 879 . . . . C8orf34 141 1 73 9 0.109756097560976 TRUE TRUE +ENSG00000215912.12 . BCM GRCh38.p13 chr1 2645504 2645504 + C C T Silent SNP ENST00000637179.1 exon5 c.G747A p.E249E exonic ENSG00000215912.12 . synonymous SNV ENSG00000215912.12:ENST00000637179.1:exon5:c.G747A:p.E249E 1p36.32 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC34 70 0 74 5 0.0632911392405063 TRUE TRUE +ENSG00000185499.16 . BCM GRCh38.p13 chr1 155188334 155188334 + A A G Silent SNP ENST00000611571.4 exon6 c.T3078C p.H1026H exonic ENSG00000185499.16 . synonymous SNV ENSG00000185499.16:ENST00000611571.4:exon6:c.T3078C:p.H1026H 1q22 C3L-00416 . . . . . . . . . 1.7 . D . . . N . . . 0.040 . . . . . 0.333 . . . T T . T -0.235 0.429 0.639 N N . . . . 1.000 0.646 0.588 0.645 0.605 . 3.550 -7.100 -1.284 0.321 -0.122 0.000 0.050 0.045 71 . . . . MUC1 397 0 415 113 0.214015151515152 TRUE TRUE +ENSG00000162782.16 . BCM GRCh38.p13 chr1 179593524 179593524 + G G A Silent SNP ENST00000367614.5 exon3 c.G297A p.K99K exonic ENSG00000162782.16 . synonymous SNV ENSG00000162782.16:ENST00000367614.5:exon3:c.G297A:p.K99K 1q25.2 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDRD5 119 0 119 17 0.125 TRUE TRUE +ENSG00000184611.12 . BCM GRCh38.p13 chr2 162373569 162373569 + T T C Silent SNP ENST00000332142.10 exon15 c.A3225G p.T1075T exonic ENSG00000184611.12 . synonymous SNV ENSG00000184611.12:ENST00000332142.10:exon15:c.A3225G:p.T1075T 2q24.2 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH7 79 0 55 16 0.225352112676056 TRUE TRUE +ENSG00000132153.15 . BCM GRCh38.p13 chr3 47829080 47829080 + C C T Silent SNP ENST00000445061.6 exon6 c.C312T p.S104S exonic ENSG00000132153.15 . synonymous SNV ENSG00000132153.15:ENST00000445061.6:exon6:c.C312T:p.S104S 3p21.31 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DHX30 138 0 108 21 0.162790697674419 TRUE TRUE +ENSG00000159788.19 . BCM GRCh38.p13 chr4 3416109 3416109 + G G A Silent SNP ENST00000344733.9 exon7 c.G2415A p.E805E exonic ENSG00000159788.19 . synonymous SNV ENSG00000159788.19:ENST00000344733.9:exon7:c.G2415A:p.E805E 4p16.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS12 124 0 90 20 0.181818181818182 TRUE NA +ENSG00000183090.5 . BCM GRCh38.p13 chr4 143696443 143696443 + T T G Silent SNP ENST00000329798.5 exon1 c.A4233C p.T1411T exonic ENSG00000183090.5 . synonymous SNV ENSG00000183090.5:ENST00000329798.5:exon1:c.A4233C:p.T1411T 4q31.21 C3L-00416 . . . . . . . . rs908482895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FREM3 145 0 132 7 0.0503597122302158 TRUE NA +ENSG00000261272.1 . BCM GRCh38.p13 chr6 31026610 31026610 + C C A Silent SNP ENST00000561890.1 exon2 c.C1179A p.G393G exonic ENSG00000261272.1 . synonymous SNV ENSG00000261272.1:ENST00000561890.1:exon2:c.C1179A:p.G393G 6p21.33 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC22 72 0 55 28 0.337349397590361 TRUE NA +ENSG00000137168.8 . BCM GRCh38.p13 chr6 36855849 36855849 + G G A Silent SNP ENST00000373699.6 exon4 c.C465T p.D155D exonic ENSG00000137168.8 . synonymous SNV ENSG00000137168.8:ENST00000373699.6:exon4:c.C465T:p.D155D 6p21.2 C3L-00416 4.943e-05 9.617e-05 0 0 0 5.995e-05 0 6.059e-05 rs758011110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65472845;OCCURENCE=1(large_intestine),2(stomach) PPIL1 228 0 230 64 0.217687074829932 TRUE TRUE +ENSG00000112299.8 . BCM GRCh38.p13 chr6 132693250 132693250 + A A G Silent SNP ENST00000367928.5 exon4 c.T600C p.N200N exonic ENSG00000112299.8 . synonymous SNV ENSG00000112299.8:ENST00000367928.5:exon4:c.T600C:p.N200N 6q23.2 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VNN1 112 0 142 8 0.0533333333333333 TRUE TRUE +ENSG00000106012.18 . BCM GRCh38.p13 chr7 2578253 2578253 + G G A Silent SNP ENST00000402050.7 exon7 c.G477A p.V159V exonic ENSG00000106012.18 . synonymous SNV ENSG00000106012.18:ENST00000402050.7:exon7:c.G477A:p.V159V 7p22.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IQCE 138 0 115 20 0.148148148148148 TRUE TRUE +ENSG00000146618.3 . BCM GRCh38.p13 chr7 19145075 19145075 + C C T Silent SNP ENST00000275461.3 exon1 c.G288A p.R96R exonic ENSG00000146618.3 . synonymous SNV ENSG00000146618.3:ENST00000275461.3:exon1:c.G288A:p.R96R 7p21.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FERD3L 107 0 79 24 0.233009708737864 TRUE TRUE +ENSG00000106571.14 . BCM GRCh38.p13 chr7 41965185 41965185 + G G A Silent SNP ENST00000395925.8 exon15 c.C3888T p.G1296G exonic ENSG00000106571.14 . synonymous SNV ENSG00000106571.14:ENST00000395925.8:exon15:c.C3888T:p.G1296G 7p14.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101229971;OCCURENCE=1(skin) GLI3 138 0 139 22 0.136645962732919 TRUE TRUE +ENSG00000106351.13 . BCM GRCh38.p13 chr7 100555719 100555719 + C C T Silent SNP ENST00000300176.9 exon6 c.C861T p.A287A exonic ENSG00000106351.13 . synonymous SNV ENSG00000106351.13:ENST00000300176.9:exon6:c.C861T:p.A287A 7q22.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGFG2 112 0 115 32 0.217687074829932 TRUE TRUE +ENSG00000174417.3 . BCM GRCh38.p13 chr8 109119230 109119230 + C C T Silent SNP ENST00000518632.2 exon3 c.C972T p.S324S exonic ENSG00000174417.3 . synonymous SNV ENSG00000174417.3:ENST00000518632.2:exon3:c.C972T:p.S324S 8q23.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRHR 231 0 229 45 0.164233576642336 TRUE NA +ENSG00000197724.11 . BCM GRCh38.p13 chr9 93677613 93677613 + G G T Silent SNP ENST00000359246.9 exon22 c.G3228T p.A1076A exonic ENSG00000197724.11 . synonymous SNV ENSG00000197724.11:ENST00000359246.9:exon22:c.G3228T:p.A1076A 9q22.31 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHF2 102 0 100 18 0.152542372881356 TRUE TRUE +ENSG00000197601.13 . BCM GRCh38.p13 chr11 13727576 13727576 + G G A Silent SNP ENST00000354817.8 exon11 c.G1278A p.R426R exonic ENSG00000197601.13 . synonymous SNV ENSG00000197601.13:ENST00000354817.8:exon11:c.G1278A:p.R426R 11p15.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAR1 137 0 83 25 0.231481481481481 TRUE NA +ENSG00000174982.3 . BCM GRCh38.p13 chr11 55651605 55651605 + C C T Silent SNP ENST00000641692.1 exon2 c.C702T p.A234A exonic ENSG00000174982.3 . synonymous SNV ENSG00000174982.3:ENST00000641692.1:exon2:c.C702T:p.A234A 11q11 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100412666;OCCURENCE=1(stomach) OR4S2 51 0 39 9 0.1875 TRUE TRUE +ENSG00000168002.12 . BCM GRCh38.p13 chr11 62765655 62765655 + T T C Silent SNP ENST00000301788.12 exon6 c.T402C p.D134D exonic ENSG00000168002.12 . synonymous SNV ENSG00000168002.12:ENST00000301788.12:exon6:c.T402C:p.D134D 11q12.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POLR2G 100 0 117 25 0.176056338028169 TRUE TRUE +ENSG00000167548.15 . BCM GRCh38.p13 chr12 49038758 49038758 + C C T Silent SNP ENST00000301067.11 exon34 c.G8598A p.E2866E exonic ENSG00000167548.15 . synonymous SNV ENSG00000167548.15:ENST00000301067.11:exon34:c.G8598A:p.E2866E 12q13.12 C3L-00416 . . . . . . . . rs373085015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2D 206 0 315 90 0.222222222222222 TRUE NA +ENSG00000111087.10 . BCM GRCh38.p13 chr12 57463760 57463760 + C C G Silent SNP ENST00000228682.7 exon2 c.C69G p.P23P exonic ENSG00000111087.10 . synonymous SNV ENSG00000111087.10:ENST00000228682.7:exon2:c.C69G:p.P23P 12q13.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLI1 92 0 88 17 0.161904761904762 TRUE TRUE +ENSG00000177084.18 . BCM GRCh38.p13 chr12 132639163 132639163 + G G A Silent SNP ENST00000320574.10 exon40 c.C5514T p.H1838H exonic ENSG00000177084.18 . synonymous SNV ENSG00000177084.18:ENST00000320574.10:exon40:c.C5514T:p.H1838H 12q24.33 C3L-00416 . . . . . . . . rs936176137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POLE 141 0 113 26 0.18705035971223 TRUE NA +ENSG00000140400.17 . BCM GRCh38.p13 chr15 75359352 75359352 + C C T Silent SNP ENST00000267978.10 exon17 c.G2022A p.Q674Q exonic ENSG00000140400.17 . synonymous SNV ENSG00000140400.17:ENST00000267978.10:exon17:c.G2022A:p.Q674Q 15q24.2 C3L-00416 . . . . . . . . . 4.12 T T . . . D . D N 0.364 . . D . . 0.915 0.076 T . T T . T 2.246 21.200 0.879 D N . . . . 0.932 0.732 0.702 0.744 0.711 . 5.110 1.950 0.075 1.026 0.597 0.993 1.000 0.998 518 . . . . MAN2C1 46 0 49 7 0.125 TRUE TRUE +ENSG00000078328.21 . BCM GRCh38.p13 chr16 7518383 7518383 + C C T Silent SNP ENST00000550418.6 exon5 c.C264T p.T88T exonic ENSG00000078328.21 . synonymous SNV ENSG00000078328.21:ENST00000550418.6:exon5:c.C264T:p.T88T 16p13.3 C3L-00416 5.082e-05 0.0005 8.661e-05 0 0 0 0 0 rs202136920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60959070;OCCURENCE=3(large_intestine) RBFOX1 71 0 68 6 0.0810810810810811 TRUE TRUE +ENSG00000090905.19 . BCM GRCh38.p13 chr16 24815292 24815292 + T T A Silent SNP ENST00000395799.8 exon19 c.T4818A p.V1606V exonic ENSG00000090905.19 . synonymous SNV ENSG00000090905.19:ENST00000395799.8:exon19:c.T4818A:p.V1606V 16p12.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNRC6A 226 0 254 39 0.133105802047782 TRUE TRUE +ENSG00000006788.14 . BCM GRCh38.p13 chr17 10309342 10309342 + C C T Silent SNP ENST00000252172.9 exon35 c.G5061A p.E1687E exonic ENSG00000006788.14 . synonymous SNV ENSG00000006788.14:ENST00000252172.9:exon35:c.G5061A:p.E1687E 17p13.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH13 177 0 216 52 0.194029850746269 TRUE TRUE +ENSG00000221926.13 . BCM GRCh38.p13 chr17 15651574 15651574 + C C T Silent SNP ENST00000455584.2 exon1 c.G36A p.L12L exonic ENSG00000221926.13;ENSG00000251537.4 . synonymous SNV ENSG00000251537.4:ENST00000455584.2:exon1:c.G36A:p.L12L,ENSG00000221926.13:ENST00000649191.2:exon7:c.G36A:p.L12L 17p12 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM16 142 0 149 45 0.231958762886598 TRUE TRUE +ENSG00000072958.8 . BCM GRCh38.p13 chr19 16227594 16227594 + G G A Silent SNP ENST00000291439.7 exon7 c.G720A p.Q240Q exonic ENSG00000072958.8 . synonymous SNV ENSG00000072958.8:ENST00000291439.7:exon7:c.G720A:p.Q240Q 19p13.11 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP1M1 114 0 102 22 0.17741935483871 TRUE TRUE +ENSG00000166289.6 . BCM GRCh38.p13 chr19 29674472 29674472 + G G C Silent SNP ENST00000436066.4 exon2 c.G633C p.L211L exonic ENSG00000166289.6 . synonymous SNV ENSG00000166289.6:ENST00000436066.4:exon2:c.G633C:p.L211L 19q12 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHF1 86 0 68 15 0.180722891566265 TRUE TRUE +ENSG00000171606.18 . BCM GRCh38.p13 chr19 58211604 58211604 + G G A Silent SNP ENST00000617501.5 exon7 c.G897A p.E299E exonic ENSG00000171606.18 . synonymous SNV ENSG00000171606.18:ENST00000617501.5:exon7:c.G897A:p.E299E 19q13.43 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF274 90 0 103 17 0.141666666666667 TRUE TRUE +ENSG00000123572.17 . BCM GRCh38.p13 chrX 105909063 105909063 + A A C Silent SNP ENST00000243300.14 exon13 c.A1422C p.A474A exonic ENSG00000123572.17 . synonymous SNV ENSG00000123572.17:ENST00000243300.14:exon13:c.A1422C:p.A474A Xq22.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRK 114 0 98 34 0.257575757575758 TRUE TRUE +ENSG00000189326.4 . BCM GRCh38.p13 chrX 143026078 143026078 + A A C Silent SNP ENST00000446864.1 exon1 c.A64C p.R22R exonic ENSG00000189326.4 . synonymous SNV ENSG00000189326.4:ENST00000446864.1:exon1:c.A64C:p.R22R Xq27.3 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPANXN4 70 0 72 12 0.142857142857143 TRUE TRUE +ENSG00000180488.15 . BCM GRCh38.p13 chr1 77859063 77859063 + T T C Intron SNP NA NA NA NA intronic ENSG00000180488.15 . . . 1p31.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIGA1 66 0 56 17 0.232876712328767 TRUE NA +ENSG00000255622.3 . BCM GRCh38.p13 chr5 141156967 141156967 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255622.3 . . . 5q31.3 C3L-00416 5.455e-05 0 0 0 0 0.0001 0 0 rs782641486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHB17P 148 0 146 14 0.0875 TRUE NA +ENSG00000158691.14 . BCM GRCh38.p13 chr6 28390593 28390593 + G G T Intron SNP NA NA NA NA intronic ENSG00000158691.14 . . . 6p22.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSCAN12 173 0 147 25 0.145348837209302 TRUE NA +ENSG00000136828.19 . BCM GRCh38.p13 chr9 127183933 127183933 + G G T Intron SNP NA NA NA NA intronic ENSG00000136828.19 . . . 9q33.3 C3L-00416 . . . . . . . . . 1.16 D T B B . N . T N 0.070 T T T 0.014 0.178 0.093 . . . T T T T -0.138 0.693 0.491 N N -1.263 0.186 -1.411 0.146 1.000 0.581 0.233 0.565 0.613 . 3.280 -4.550 -0.179 -1.954 -0.233 0.001 0.000 0.003 748 . . . . RALGPS1 197 0 183 33 0.152777777777778 TRUE TRUE +ENSG00000254838.5 . BCM GRCh38.p13 chr11 6719826 6719826 + - NA T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254838.5 . . . 11p15.4 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GVINP1 NA NA NA NA NA NA NA +ENSG00000235280.2 . BCM GRCh38.p13 chr13 112968619 112968619 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000235280.2 . . . 13q34 C3L-00416 . . . . . . . . . 1.13 D . . . . N . T N 0.118 T T T 0.016 . 0.204 . . . T T T T 1.117 12.940 0.958 N N -0.894 0.528 -0.994 0.497 1.000 0.598 0.541 0.607 0.639 . 2.180 1.290 0.378 0.687 0.505 0.004 0.133 0.028 988 . . . . MCF2L-AS1 96 0 101 16 0.136752136752137 TRUE NA +ENSG00000149926.13 . BCM GRCh38.p13 chr16 30025717 30025717 + C C T Intron SNP NA NA NA NA intronic ENSG00000149926.13 . . . 16p11.2 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLCD3B 291 0 282 67 0.191977077363897 TRUE TRUE +ENSG00000256806.6 . BCM GRCh38.p13 chr17 6652354 6652354 + T T A 3'UTR SNP NA NA NA NA UTR3 ENSG00000256806.6 ENST00000542475.3:c.*84T>A . . 17p13.1 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C17orf100 106 0 110 23 0.172932330827068 TRUE NA +ENSG00000197322.4 . BCM GRCh38.p13 chr17 34579112 34579112 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000197322.4 . . . 17q12 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C17orf102 122 0 123 35 0.221518987341772 TRUE NA +ENSG00000285722.1 . BCM GRCh38.p13 chr22 49441160 49441160 + G G A IGR SNP NA NA NA NA intergenic ENSG00000285722.1;ENSG00000280224.1 dist=64041;dist=59408 . . 22q13.33 C3L-00416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC207130.1 153 1 164 41 0.2 TRUE NA +ENSG00000184908.18 . BCM GRCh38.p13 chr1 16044535 16044535 + C C T Missense_Mutation SNP ENST00000375679.9 exon2 c.C43T p.P15S exonic ENSG00000184908.18 . nonsynonymous SNV ENSG00000184908.18:ENST00000375679.9:exon2:c.C43T:p.P15S 1p36.13 C3L-00418 . . . . . . . . . 9.19 T D D P N N L D N 0.432 D D D 0.546 0.474 0.926 0.216 . T T T D D 2.295 21.500 0.999 D N 0.308 3.822 0.216 3.264 0.765 0.497 0.590 0.578 0.613 . 4.230 4.230 1.471 0.920 0.573 0.425 0.218 0.953 433 . . . . CLCNKB 201 0 144 53 0.269035532994924 TRUE TRUE +ENSG00000198483.13 . BCM GRCh38.p13 chr1 145873504 145873504 + G G T Missense_Mutation SNP ENST00000355594.9 exon10 c.C1265A p.P422Q exonic ENSG00000198483.13 . nonsynonymous SNV ENSG00000198483.13:ENST00000355594.9:exon10:c.C1265A:p.P422Q 1q21.1 C3L-00418 . . . . . . . . . 1.7 T D . . . . . T N 0.117 . . . . . . . . T . . . T 1.983 19.130 . . N . . . . . . . . . . . . 1.894 0.218 -0.114 0.109 0.469 0.297 . . . . . ANKRD35 137 0 92 39 0.297709923664122 TRUE TRUE +ENSG00000179930.6 . BCM GRCh38.p13 chr1 182056692 182056692 + G G - Frame_Shift_Del DEL ENST00000339948.3 exon2 c.1319delC p.T440Sfs*52 exonic ENSG00000179930.6 . frameshift deletion ENSG00000179930.6:ENST00000339948.3:exon2:c.1319delC:p.T440Sfs*52 1q25.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF648 120 0 79 25 0.240384615384615 TRUE TRUE +ENSG00000115216.14 . BCM GRCh38.p13 chr2 27440848 27440848 + C C T Nonsense_Mutation SNP ENST00000379852.8 exon14 c.C1237T p.Q413X exonic ENSG00000115216.14 . stopgain ENSG00000115216.14:ENST00000379852.8:exon14:c.C1237T:p.Q413X 2p23.3 C3L-00418 . . . . . . . . . 5.6 . . . . D A . . . 0.437 . . . . . . . . . D D . . 7.370 38 0.997 D N 1.168 21.226 1.049 22.262 1.000 0.719 0.698 0.723 0.711 . 5.950 5.950 7.702 1.018 0.599 1.000 0.998 0.998 63 . . . . NRBP1 202 0 142 48 0.252631578947368 TRUE TRUE +ENSG00000021574.12 . BCM GRCh38.p13 chr2 32087552 32087552 + G G C Missense_Mutation SNP ENST00000315285.8 exon2 c.G476C p.G159A exonic ENSG00000021574.12 . nonsynonymous SNV ENSG00000021574.12:ENST00000315285.8:exon2:c.G476C:p.G159A 2p22.3 C3L-00418 . . . . . . . . . 14.20 T T D D D D M T D 0.822 T T D 0.495 0.567 0.558 0.619 T D D D D D 3.952 26.700 0.998 D D 0.761 8.064 0.763 9.128 1.000 0.732 0.709 0.644 0.728 . 5.480 5.480 6.767 1.176 0.676 1.000 1.000 0.998 358 MIT . . . SPAST 114 0 73 24 0.247422680412371 TRUE TRUE +ENSG00000075292.19 . BCM GRCh38.p13 chr2 71368497 71368497 + A A T Missense_Mutation SNP ENST00000264447.9 exon7 c.A2111T p.N704I exonic ENSG00000075292.19 . nonsynonymous SNV ENSG00000075292.19:ENST00000264447.9:exon7:c.A2111T:p.N704I 2p13.2 C3L-00418 . . . . . . . . . 4.20 D D B B N N L T N 0.649 T T T 0.102 0.513 0.043 0.070 T T T T T D 1.838 18.010 0.948 D N -0.419 1.341 -0.333 1.497 0.003 0.732 0.744 0.725 0.734 . 5.670 -0.910 0.181 -0.436 -0.181 0.992 0.985 0.980 680 RNA_recognition_motif_domain . . . ZNF638 130 0 125 10 0.0740740740740741 TRUE TRUE +ENSG00000042493.16 . BCM GRCh38.p13 chr2 85394951 85394951 + A A C Missense_Mutation SNP ENST00000263867.9 exon10 c.T989G p.I330S exonic ENSG00000042493.16 . nonsynonymous SNV ENSG00000042493.16:ENST00000263867.9:exon10:c.T989G:p.I330S 2p11.2 C3L-00418 . . . . . . . . . 15.20 D D D D D D M T D 0.761 T T D 0.576 0.635 0.794 0.658 T T D D D D 4.374 31 0.995 D D 0.760 8.051 0.762 9.102 1.000 0.706 0.710 0.719 0.714 . 5.690 5.690 8.360 1.312 0.756 1.000 1.000 0.998 883 Gelsolin-like_domain . . . CAPG 221 0 171 9 0.05 TRUE TRUE +ENSG00000114982.19 . BCM GRCh38.p13 chr2 96606982 96606982 + A A T Missense_Mutation SNP ENST00000666923.1 exon15 c.T1807A p.S603T exonic ENSG00000114982.19 . nonsynonymous SNV ENSG00000114982.19:ENST00000666923.1:exon15:c.T1807A:p.S603T 2q11.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANSL3 137 0 134 56 0.294736842105263 TRUE NA +ENSG00000170500.13 . BCM GRCh38.p13 chr2 100321517 100321517 + C C T Missense_Mutation SNP ENST00000393437.8 exon1 c.G577A p.A193T exonic ENSG00000170500.13 . nonsynonymous SNV ENSG00000170500.13:ENST00000393437.8:exon1:c.G577A:p.A193T 2q11.2 C3L-00418 . . . . . . . . . 3.20 T T B B U N N D N 0.051 T T D 0.081 0.241 0.319 0.287 D T T T T T 1.246 13.990 0.984 N N -0.939 0.473 -0.896 0.626 1.000 0.598 0.596 0.607 0.639 . 3.600 1.070 0.268 0.925 0.467 0.000 0.242 0.065 616 Zinc_finger,_RING-type . . . LONRF2 125 0 106 47 0.30718954248366 TRUE TRUE +ENSG00000081479.15 . BCM GRCh38.p13 chr2 169238137 169238137 + T T C Missense_Mutation SNP ENST00000649046.1 exon27 c.A4460G p.Q1487R exonic ENSG00000081479.15 . nonsynonymous SNV ENSG00000081479.15:ENST00000649046.1:exon27:c.A4460G:p.Q1487R 2q31.1 C3L-00418 . . . . . . . . . 12.20 T D P B D D M D N 0.606 D D D 0.483 0.458 0.842 0.567 T T D T D T 2.405 22.100 0.999 D D 0.385 4.249 0.446 4.698 1.000 0.554 0.590 0.602 0.530 . 5.390 5.390 5.754 1.126 0.665 1.000 0.561 0.995 896 . . . . LRP2 304 1 311 98 0.23960880195599 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178718216 178718216 + G G A Missense_Mutation SNP ENST00000591111.5 exon84 c.C23839T p.P7947S exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon84:c.C23839T:p.P7947S 2q31.2 C3L-00418 . . . . . . . . . 12.16 D . D D . D . D D 0.346 D D D 0.605 0.676 0.748 0.467 T . T T T D 3.174 23.800 0.921 D D 1.079 16.663 1.015 19.792 1.000 0.554 0.574 0.618 0.564 . 6.160 6.160 8.089 1.176 0.676 1.000 0.876 0.945 343 Immunoglobulin_I-set;Immunoglobulin-like_domain . . . TTN 46 0 35 6 0.146341463414634 TRUE TRUE +ENSG00000168542.16 . BCM GRCh38.p13 chr2 188988597 188988597 + C C T Missense_Mutation SNP ENST00000304636.9 exon7 c.C590T p.P197L exonic ENSG00000168542.16 . nonsynonymous SNV ENSG00000168542.16:ENST00000304636.9:exon7:c.C590T:p.P197L 2q32.2 C3L-00418 . . . . . . . . . 12.20 T T B B N D M D N 0.452 D D D 0.500 0.387 0.693 0.641 T D D T D D 3.203 23.900 0.953 D D 0.178 3.208 0.267 3.532 1.000 0.554 0.574 0.618 0.564 . 4.960 4.040 1.990 1.026 0.549 0.985 1.000 0.998 839 . . . . COL3A1 154 0 200 15 0.0697674418604651 TRUE TRUE +ENSG00000144481.17 . BCM GRCh38.p13 chr2 233955224 233955224 + - NA T Frame_Shift_Ins NA ENST00000324695.9 exon11 c.1337dupT p.T448Hfs*3 exonic ENSG00000144481.17 . frameshift insertion ENSG00000144481.17:ENST00000324695.9:exon11:c.1337dupT:p.T448Hfs*3 2q37.1 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRPM8 NA NA NA NA NA NA NA +ENSG00000077097.15 . BCM GRCh38.p13 chr3 25612559 25612559 + C C T Missense_Mutation SNP ENST00000264331.8 exon28 c.G3742A p.A1248T exonic ENSG00000077097.15 . nonsynonymous SNV ENSG00000077097.15:ENST00000264331.8:exon28:c.G3742A:p.A1248T 3p24.2 C3L-00418 8.284e-06 0.0001 0 0 0 0 0 0 rs761832827 4.20 T T B B D D N T N 0.347 T T T 0.108 0.235 0.103 0.049 T T T T T D 2.336 21.800 0.996 D N -0.108 2.151 0.126 2.845 1.000 0.707 0.725 0.725 0.714 . 6.160 5.280 1.876 1.026 0.594 0.999 0.999 0.996 832 . . . . TOP2B 116 0 53 37 0.411111111111111 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52641990 52642000 + ATTGAAGTGCC ATTGAAGTGCC - Frame_Shift_Del DEL ENST00000296302.11 exon10 c.1041_1051del p.M347Ifs*6 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon10:c.1041_1051del:p.M347Ifs*6 3p21.1 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 283 0 132 40 0.232558139534884 TRUE TRUE +ENSG00000121871.4 . BCM GRCh38.p13 chr3 165188347 165188347 + G G T Missense_Mutation SNP ENST00000475390.2 exon2 c.C2484A p.N828K exonic ENSG00000121871.4 . nonsynonymous SNV ENSG00000121871.4:ENST00000475390.2:exon2:c.C2484A:p.N828K 3q26.1 C3L-00418 . . . . . . . . . 5.20 D T B B N D L T N 0.374 T T T 0.076 0.401 0.043 0.835 T T T T D T 2.668 22.800 0.996 D D -0.024 2.426 0.110 2.776 0.551 0.615 0.574 0.659 0.564 . 5.330 3.560 5.597 1.176 0.676 1.000 1.000 0.999 901 . . . . SLITRK3 147 0 120 51 0.298245614035088 TRUE TRUE +ENSG00000138772.13 . BCM GRCh38.p13 chr4 78604330 78604330 + A A T Missense_Mutation SNP ENST00000264908.11 exon12 c.A843T p.E281D exonic ENSG00000138772.13 . nonsynonymous SNV ENSG00000138772.13:ENST00000264908.11:exon12:c.A843T:p.E281D 4q21.21 C3L-00418 . . . . . . . . . 12.20 D D D P D D M T D 0.639 T T T 0.362 0.919 0.387 0.400 T T D T D D 3.574 24.900 0.999 D D 0.577 5.699 0.502 5.181 0.996 0.732 0.588 0.659 0.728 . 5.110 3.950 3.803 -0.123 0.567 1.000 0.997 0.981 841 Annexin_repeat,_conserved_site . . . ANXA3 132 0 103 28 0.213740458015267 TRUE TRUE +ENSG00000073331.18 . BCM GRCh38.p13 chr4 112432230 112432230 + A A T Missense_Mutation SNP ENST00000650871.1 exon11 c.A2683T p.N895Y exonic ENSG00000073331.18 . nonsynonymous SNV ENSG00000073331.18:ENST00000650871.1:exon11:c.A2683T:p.N895Y 4q25 C3L-00418 . . . . . . . . . 2.20 D T P B N N M T N 0.088 T T T 0.049 0.260 0.372 0.106 T T T T T T -0.189 0.538 0.977 N N -0.716 0.785 -0.912 0.603 0.018 0.693 0.659 0.574 0.621 . 5.030 -4.260 -0.052 0.230 0.756 0.000 0.001 0.111 801 . . . . ALPK1 142 0 94 27 0.223140495867769 TRUE TRUE +ENSG00000153292.16 . BCM GRCh38.p13 chr6 47012056 47012056 + G G A Missense_Mutation SNP ENST00000371253.7 exon10 c.C1067T p.S356L exonic ENSG00000153292.16 . nonsynonymous SNV ENSG00000153292.16:ENST00000371253.7:exon10:c.C1067T:p.S356L 6p12.3 C3L-00418 . . . . . . . . . 3.19 D T B B N N . T D 0.248 T T T 0.079 0.714 0.184 0.047 T T T T D T 1.961 18.960 0.995 N N -0.507 1.162 -0.435 1.311 0.597 0.497 0.590 0.547 0.530 . 6.060 5.170 2.182 0.222 0.676 0.321 0.519 0.769 816 . . . ID=COSV51944859;OCCURENCE=1(NS),2(skin) ADGRF1 144 0 111 39 0.26 TRUE TRUE +ENSG00000065609.14 . BCM GRCh38.p13 chr6 83580574 83580574 + C C A Missense_Mutation SNP ENST00000439399.6 exon24 c.G2175T p.L725F exonic ENSG00000065609.14 . nonsynonymous SNV ENSG00000065609.14:ENST00000439399.6:exon24:c.G2175T:p.L725F 6q14.2 C3L-00418 . . . . . . . . . 12.20 D D D D D D M T D 0.767 T T T 0.218 0.173 0.498 0.624 T T D T D D 3.878 26.200 0.999 D N 0.693 7.027 0.648 6.888 0.439 0.554 0.588 0.574 0.621 . 5.520 4.570 1.741 1.026 0.599 1.000 1.000 0.999 708 . . . . SNAP91 93 0 76 8 0.0952380952380952 TRUE TRUE +ENSG00000158516.12 . BCM GRCh38.p13 chr7 130282153 130282153 + C C T Missense_Mutation SNP ENST00000222481.9 exon10 c.C1037T p.T346I exonic ENSG00000158516.12 . nonsynonymous SNV ENSG00000158516.12:ENST00000222481.9:exon10:c.C1037T:p.T346I 7q32.2 C3L-00418 . . . . . . . . . 8.20 T T P P D D M T D 0.806 T T T 0.368 0.756 0.591 0.567 T T D T D T 3.057 23.500 0.999 D D 0.647 6.441 0.591 6.110 1.000 0.549 0.627 0.574 0.530 . 5.480 5.480 6.788 1.026 0.599 1.000 0.798 0.880 . Carboxypeptidase_A,_carboxypeptidase_domain;Peptidase_M14,_carboxypeptidase_A . . . CPA2 252 0 173 47 0.213636363636364 TRUE TRUE +ENSG00000173273.16 . BCM GRCh38.p13 chr8 9720522 9720522 + A A C Missense_Mutation SNP ENST00000310430.11 exon12 c.A1898C p.E633A exonic ENSG00000173273.16 . nonsynonymous SNV ENSG00000173273.16:ENST00000310430.11:exon12:c.A1898C:p.E633A 8p23.1 C3L-00418 8.294e-06 0 0 0 0 1.507e-05 0 0 rs775388553 14.20 D D P B D D M T D 0.636 T T D 0.402 0.399 0.580 1.203 T D D D D D 3.102 23.600 0.989 D D 0.563 5.564 0.626 6.564 1.000 0.706 0.623 0.710 0.636 . 5.980 5.980 9.325 1.312 0.756 1.000 0.985 0.928 762 Ankyrin_repeat-containing_domain . . . TNKS 85 0 66 29 0.305263157894737 TRUE NA +ENSG00000104368.18 . BCM GRCh38.p13 chr8 42185108 42185108 + A A G Missense_Mutation SNP ENST00000220809.9 exon7 c.T604C p.F202L exonic ENSG00000104368.18 . nonsynonymous SNV ENSG00000104368.18:ENST00000220809.9:exon7:c.T604C:p.F202L 8p11.21 C3L-00418 . . . . . . . . . 4.20 T T B B N D L T N 0.360 T T D 0.141 0.705 0.852 0.220 T T T T D T 2.089 19.930 0.947 D N -0.351 1.493 -0.206 1.772 1.000 0.644 0.624 0.460 0.632 . 5.410 4.260 2.762 1.311 0.756 1.000 0.983 0.679 396 Kringle . . . PLAT 57 0 62 11 0.150684931506849 TRUE TRUE +ENSG00000155897.10 . BCM GRCh38.p13 chr8 130903938 130903938 + A A C Missense_Mutation SNP ENST00000286355.10 exon7 c.T1745G p.I582S exonic ENSG00000155897.10 . nonsynonymous SNV ENSG00000155897.10:ENST00000286355.10:exon7:c.T1745G:p.I582S 8q24.22 C3L-00418 . . . . . . . . . 20.20 D D D D D D H D D 0.985 D D D 0.809 0.703 0.947 1.533 D D D D D D 3.568 24.900 0.996 D D 0.907 11.228 0.884 13.095 1.000 0.638 0.574 0.653 0.466 . 6.170 6.170 9.325 1.312 0.756 1.000 1.000 0.973 660 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . ADCY8 228 0 154 61 0.283720930232558 TRUE TRUE +ENSG00000178719.17 . BCM GRCh38.p13 chr8 143992285 143992285 + T T C Missense_Mutation SNP ENST00000395068.9 exon5 c.T734C p.I245T exonic ENSG00000178719.17 . nonsynonymous SNV ENSG00000178719.17:ENST00000395068.9:exon5:c.T734C:p.I245T 8q24.3 C3L-00418 . . . . . . . . . 12.20 D T D D D D L T D 0.941 T T D 0.311 0.695 0.202 1.864 T T D T D D 3.592 25.000 0.994 D D 0.072 2.776 0.153 2.961 1.000 0.707 0.702 0.725 0.714 . 5.380 4.200 5.550 1.134 0.661 1.000 1.000 0.999 970 . . . . GRINA 19 0 8 7 0.466666666666667 TRUE TRUE +ENSG00000165304.8 . BCM GRCh38.p13 chr9 36594745 36594745 + G G A Missense_Mutation SNP ENST00000298048.7 exon5 c.G379A p.G127S exonic ENSG00000165304.8 . nonsynonymous SNV ENSG00000165304.8:ENST00000298048.7:exon5:c.G379A:p.G127S 9p13.2 C3L-00418 . . . . . . . . . 14.20 D D D D D D L T D 0.909 T T D 0.464 0.546 0.683 0.537 T T D D D D 4.107 27.800 0.999 D D 0.801 8.796 0.841 11.437 1.000 0.707 0.725 0.725 0.714 . 6.160 6.160 9.259 1.155 0.676 1.000 1.000 0.925 579 Maternal_embryonic_leucine_zipper_kinase,_catalytic_domain;Protein_kinase_domain . . . MELK 112 0 75 28 0.271844660194175 TRUE TRUE +ENSG00000175768.13 . BCM GRCh38.p13 chr9 37592440 37592440 + A A - Frame_Shift_Del DEL ENST00000321301.7 exon1 c.93delT p.L32Sfs*14 exonic ENSG00000175768.13;ENSG00000256966.6 . frameshift deletion ENSG00000175768.13:ENST00000321301.7:exon1:c.93delT:p.L32Sfs*14,ENSG00000256966.6:ENST00000537239.2:exon1:c.30delT:p.L11Sfs*30 9p13.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOMM5 291 0 183 65 0.262096774193548 TRUE TRUE +ENSG00000196793.13 . BCM GRCh38.p13 chr10 43558008 43558008 + T T A Missense_Mutation SNP ENST00000306006.10 exon2 c.A72T p.E24D exonic ENSG00000196793.13 . nonsynonymous SNV ENSG00000196793.13:ENST00000306006.10:exon2:c.A72T:p.E24D 10q11.21 C3L-00418 . . . . . . . . . 0.19 T T B B . N N T N 0.156 T T T 0.006 0.249 0.040 0.066 T T T T T T 0.443 5.894 0.985 N N -1.257 0.189 -1.306 0.205 0.975 0.638 0.574 0.653 0.504 . 4.020 -4.660 -0.295 0.177 0.665 0.000 0.040 0.178 824 . . . . ZNF239 123 0 110 43 0.281045751633987 TRUE TRUE +ENSG00000165672.7 . BCM GRCh38.p13 chr10 119178778 119178778 + C C A Missense_Mutation SNP ENST00000298510.4 exon1 c.G13T p.V5L exonic ENSG00000165672.7 . nonsynonymous SNV ENSG00000165672.7:ENST00000298510.4:exon1:c.G13T:p.V5L 10q26.11 C3L-00418 . . . . . . . . . 0.20 T T B B N N L T N 0.209 T T T 0.034 0.346 0.145 0.069 T T T T T T 0.900 10.430 0.635 N N -1.095 0.310 -1.043 0.437 1.000 0.442 0.504 0.522 0.562 . 5.160 2.160 0.042 -0.272 -0.229 0.001 0.004 0.095 940 . . . . PRDX3 269 1 172 51 0.228699551569507 TRUE TRUE +ENSG00000162341.18 . BCM GRCh38.p13 chr11 69087902 69087902 + T T A Missense_Mutation SNP ENST00000637084.1 exon13 c.T1065A p.D355E exonic ENSG00000162341.18;ENSG00000287725.1 . nonsynonymous SNV ENSG00000287725.1:ENST00000637084.1:exon13:c.T1065A:p.D355E,ENSG00000162341.18:ENST00000294309.8:exon25:c.T2208A:p.D736E 11q13.3 C3L-00418 . . . . . . . . . 2.20 T T B B N N N D N 0.112 T T D 0.355 0.301 0.298 0.176 T T T T T T 0.003 1.354 0.652 N N -1.519 0.075 -1.335 0.187 0.988 0.651 0.709 0.645 0.700 . 4.120 -0.202 0.122 -0.602 -1.777 0.991 0.569 0.014 934 . . . . TPCN2 143 2 77 30 0.280373831775701 TRUE TRUE +ENSG00000020922.13 . BCM GRCh38.p13 chr11 94476382 94476382 + A A T Missense_Mutation SNP ENST00000323929.8 exon7 c.T566A p.L189H exonic ENSG00000020922.13 . nonsynonymous SNV ENSG00000020922.13:ENST00000323929.8:exon7:c.T566A:p.L189H 11q21 C3L-00418 . . . . . . . . . 20.20 D D D D D D M D D 0.943 D D D 0.950 0.844 0.886 0.526 D D D D D D 4.100 27.800 0.985 D D 0.882 10.586 0.825 10.918 1.000 0.732 0.744 0.710 0.728 . 5.320 5.320 8.376 1.298 0.684 1.000 1.000 0.998 877 Calcineurin-like_phosphoesterase_domain,_ApaH_type . . . MRE11 221 0 158 63 0.285067873303167 TRUE TRUE +ENSG00000149972.11 . BCM GRCh38.p13 chr11 99819646 99819646 + G G A Missense_Mutation SNP ENST00000524871.6 exon4 c.G158A p.R53Q exonic ENSG00000149972.11 . nonsynonymous SNV ENSG00000149972.11:ENST00000524871.6:exon4:c.G158A:p.R53Q 11q22.1 C3L-00418 8.383e-06 0.0001 0 0 0 0 0 0 rs752165707 5.20 T D B B N D M T N 0.572 T T T 0.221 0.392 0.669 0.038 T T T T T T 2.374 22.000 1.000 D D -0.162 1.985 0.001 2.362 0.006 0.487 0.574 0.574 0.564 . 5.060 4.140 6.692 1.176 0.676 0.999 0.295 0.519 917 . . . ID=COSV54306589;OCCURENCE=1(large_intestine),4(skin) CNTN5 586 0 566 76 0.118380062305296 TRUE TRUE +ENSG00000137757.11 . BCM GRCh38.p13 chr11 105002185 105002185 + T T - Frame_Shift_Del DEL ENST00000260315.8 exon5 c.560delA p.K187Rfs*33 exonic ENSG00000137757.11 . frameshift deletion ENSG00000137757.11:ENST00000260315.8:exon5:c.560delA:p.K187Rfs*33 11q22.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASP5 100 0 56 32 0.363636363636364 TRUE TRUE +ENSG00000185958.10 . BCM GRCh38.p13 chr12 50350737 50350737 + G G C Missense_Mutation SNP ENST00000327337.6 exon4 c.C6095G p.T2032S exonic ENSG00000185958.10 . nonsynonymous SNV ENSG00000185958.10:ENST00000327337.6:exon4:c.C6095G:p.T2032S 12q13.12 C3L-00418 . . . . . . . . . 2.19 D D B B . N N T N 0.050 T T T 0.012 0.247 0.014 . T T T T T T -1.329 0.001 0.715 N N -1.640 0.047 -1.755 0.041 0.833 0.487 0.574 0.547 0.530 . 4.390 -8.790 -1.552 -0.105 -0.794 0.000 0.006 0.010 584 . . . . FAM186A 160 0 126 50 0.284090909090909 TRUE TRUE +ENSG00000197111.16 . BCM GRCh38.p13 chr12 53471642 53471642 + T T C Missense_Mutation SNP ENST00000439930.7 exon13 c.T896C p.I299T exonic ENSG00000197111.16 . nonsynonymous SNV ENSG00000197111.16:ENST00000439930.7:exon13:c.T896C:p.I299T 12q13.13 C3L-00418 . . . . . . . . . 13.20 D D P P D D M T D 0.871 T T D 0.614 0.623 0.781 2.392 D T D D D T 4.081 27.600 0.998 D D 0.721 7.426 0.700 7.751 1.000 0.672 0.702 0.702 0.711 . 5.120 5.120 7.879 1.138 0.665 1.000 1.000 0.998 572 K_Homology_domain,_type_1;K_Homology_domain . . . PCBP2 83 0 39 14 0.264150943396226 TRUE TRUE +ENSG00000135413.9 . BCM GRCh38.p13 chr12 54630922 54630922 + C C A Missense_Mutation SNP ENST00000257867.5 exon5 c.G387T p.K129N exonic ENSG00000135413.9 . nonsynonymous SNV ENSG00000135413.9:ENST00000257867.5:exon5:c.G387T:p.K129N 12q13.2 C3L-00418 . . . . . . . . . 2.17 . D B B . N N . D 0.247 T T T 0.025 0.217 0.061 0.027 T T T T T T -0.397 0.195 0.917 N N -1.393 0.120 -1.563 0.086 0.008 0.487 0.574 0.547 0.564 . 2.730 -5.450 -4.263 -0.467 0.599 0.000 0.002 0.030 462 . . . . LACRT 127 0 112 25 0.182481751824818 TRUE TRUE +ENSG00000139304.16 . BCM GRCh38.p13 chr12 80669040 80669040 + C C G Missense_Mutation SNP ENST00000644991.3 exon40 c.C6226G p.Q2076E exonic ENSG00000139304.16 . nonsynonymous SNV ENSG00000139304.16:ENST00000644991.3:exon40:c.C6226G:p.Q2076E 12q21.31 C3L-00418 . . . . . . . . . 11.13 . D . . . D . . . 0.823 D D D 0.861 0.825 0.355 . T T D D D D 3.560 24.900 0.996 D D 0.790 8.593 0.799 10.100 1.000 0.487 0.574 0.574 0.564 . 5.630 5.630 7.520 1.026 0.599 1.000 0.995 0.996 907 PTP_type_protein_phosphatase . . ID=COSV57046121;OCCURENCE=1(oesophagus) PTPRQ 79 0 77 22 0.222222222222222 TRUE NA +ENSG00000182732.18 . BCM GRCh38.p13 chr14 72472933 72472956 + TGGGATGTCCACAGGCCTGTGGTG TGGGATGTCCACAGGCCTGTGGTG - In_Frame_Del DEL ENST00000553530.5 exon9 c.598_618del p.W200_V206del exonic ENSG00000182732.18 . nonframeshift deletion ENSG00000182732.18:ENST00000553530.5:exon9:c.598_618del:p.W200_V206del 14q24.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS6 131 0 109 13 0.10655737704918 TRUE TRUE +ENSG00000197119.13 . BCM GRCh38.p13 chr14 100292666 100292666 + G G C Missense_Mutation SNP ENST00000359232.8 exon4 c.C529G p.R177G exonic ENSG00000197119.13 . nonsynonymous SNV ENSG00000197119.13:ENST00000359232.8:exon4:c.C529G:p.R177G 14q32.2 C3L-00418 . . . . . . . . . 13.20 D D B B D D M T D 0.870 T T D 0.574 0.522 0.881 0.639 T T D D D D 3.333 24.200 0.985 D D -0.144 2.040 -0.126 1.975 1.000 0.707 0.694 0.702 0.714 . 5.270 4.380 4.791 1.176 0.676 1.000 0.231 0.147 964 . . . . SLC25A29 153 0 103 39 0.274647887323944 TRUE TRUE +ENSG00000103978.16 . BCM GRCh38.p13 chr15 42236341 42236341 + C C G Missense_Mutation SNP ENST00000389834.9 exon10 c.G947C p.S316T exonic ENSG00000103978.16 . nonsynonymous SNV ENSG00000103978.16:ENST00000389834.9:exon10:c.G947C:p.S316T 15q15.1 C3L-00418 . . . . . . . . . 18.19 D D D D D D M . D 0.929 D D T 0.866 0.924 0.580 0.897 D D D D D D 3.737 25.600 0.996 D D 0.833 9.469 0.798 10.050 1.000 0.719 0.723 0.725 0.714 . 5.300 5.300 7.879 1.026 0.549 1.000 1.000 0.999 498 . . . . TMEM87A 168 0 124 57 0.314917127071823 TRUE TRUE +ENSG00000166200.15 . BCM GRCh38.p13 chr15 49133967 49133967 + A A C Missense_Mutation SNP ENST00000388901.10 exon8 c.T857G p.L286R exonic ENSG00000166200.15 . nonsynonymous SNV ENSG00000166200.15:ENST00000388901.10:exon8:c.T857G:p.L286R 15q21.1 C3L-00418 . . . . . . . . . 19.20 D D D D D D H T D 0.963 D D D 0.802 0.852 0.898 3.504 D D D D D D 4.264 29.300 0.998 D D 1.046 15.425 0.978 17.535 1.000 0.707 0.725 0.725 0.714 . 5.930 5.930 9.287 1.312 0.756 1.000 1.000 0.998 531 Proteasome_component_(PCI)_domain . . . COPS2 82 0 83 8 0.0879120879120879 TRUE TRUE +ENSG00000103174.13 . BCM GRCh38.p13 chr16 5027873 5027873 + C C G Missense_Mutation SNP ENST00000312251.8 exon7 c.G1147C p.G383R exonic ENSG00000103174.13 . nonsynonymous SNV ENSG00000103174.13:ENST00000312251.8:exon7:c.G1147C:p.G383R 16p13.3 C3L-00418 . . . . . . . . . 19.20 D D D D D D H D D 0.756 D D D 0.562 0.575 0.934 0.083 T D D D D D 2.854 23.100 0.999 D D 0.342 4.004 0.210 3.233 1.000 0.706 0.634 0.723 0.613 . 4.570 4.570 5.382 1.026 0.599 1.000 0.076 0.036 867 EGF-like,_conserved_site;EGF-like_domain . . . NAGPA 251 1 197 52 0.208835341365462 TRUE TRUE +ENSG00000174231.17 . BCM GRCh38.p13 chr17 1660470 1660470 + G G A Nonsense_Mutation SNP ENST00000304992.11 exon30 c.C4747T p.Q1583X exonic ENSG00000174231.17 . stopgain ENSG00000174231.17:ENST00000304992.11:exon30:c.C4747T:p.Q1583X 17p13.3 C3L-00418 . . . . . . . . . 5.6 . . . . D A . . . 0.973 . . . . . . . . . D D . . 9.040 47 0.997 D N 1.287 36.465 1.163 37.114 1.000 0.707 0.702 0.702 0.714 . 5.950 5.950 9.864 1.176 0.676 1.000 1.000 0.999 749 Pre-mRNA-processing-splicing_factor_8,_U6-snRNA-binding . . . PRPF8 354 0 299 98 0.246851385390428 TRUE TRUE +ENSG00000141068.14 . BCM GRCh38.p13 chr17 27617412 27617412 + T T - Frame_Shift_Del DEL ENST00000644974.1 exon19 c.2611delT p.F871Sfs*143 exonic ENSG00000141068.14 . frameshift deletion ENSG00000141068.14:ENST00000644974.1:exon19:c.2611delT:p.F871Sfs*143 17q11.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KSR1 100 0 55 21 0.276315789473684 TRUE TRUE +ENSG00000005961.19 . BCM GRCh38.p13 chr17 44380072 44380072 + C C G Missense_Mutation SNP ENST00000262407.6 exon17 c.G1682C p.G561A exonic ENSG00000005961.19 . nonsynonymous SNV ENSG00000005961.19:ENST00000262407.6:exon17:c.G1682C:p.G561A 17q21.31 C3L-00418 . . . . . . . . . 1.20 T T P B N N L T N 0.127 T T T 0.042 0.272 0.463 0.319 T T T T D T 0.990 11.500 0.812 N N -0.565 1.052 -0.659 0.958 0.075 0.718 0.590 0.571 0.542 . 4.690 2.670 0.711 0.109 -0.218 0.037 0.308 0.045 508 Integrin_alpha-2 . . . ITGA2B 254 0 182 50 0.21551724137931 TRUE TRUE +ENSG00000175931.13 . BCM GRCh38.p13 chr17 76399776 76399776 + T T C Missense_Mutation SNP ENST00000319380.12 exon9 c.A1301G p.E434G exonic ENSG00000175931.13 . nonsynonymous SNV ENSG00000175931.13:ENST00000319380.12:exon9:c.A1301G:p.E434G 17q25.1 C3L-00418 . . . . . . . . . 1.20 T T B B N N N T N 0.167 T T T 0.063 0.282 0.174 0.703 T T T T T T 1.535 15.960 0.989 D N -0.666 0.872 -0.535 1.146 0.042 0.707 0.725 0.725 0.714 . 4.980 2.760 1.530 1.138 0.665 0.951 0.021 0.036 823 . . . . UBE2O 213 0 116 46 0.283950617283951 TRUE TRUE +ENSG00000171291.8 . BCM GRCh38.p13 chr19 11866320 11866320 + T T - Frame_Shift_Del DEL ENST00000304030.2 exon1 c.164delT p.L55Rfs*4 exonic ENSG00000171291.8 . frameshift deletion ENSG00000171291.8:ENST00000304030.2:exon1:c.164delT:p.L55Rfs*4 19p13.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF439 136 0 107 34 0.24113475177305 NA TRUE +ENSG00000063127.16 . BCM GRCh38.p13 chr19 49290661 49290661 + T T C Missense_Mutation SNP ENST00000335875.9 exon11 c.A1885G p.M629V exonic ENSG00000063127.16 . nonsynonymous SNV ENSG00000063127.16:ENST00000335875.9:exon11:c.A1885G:p.M629V 19q13.33 C3L-00418 . . . . . . . . . 0.20 T T B B N N N T N 0.071 T T T 0.122 0.662 0.370 0.187 T T T T T T -1.135 0.003 0.238 N N -1.767 0.027 -1.770 0.038 0.000 0.554 0.588 0.537 0.586 . 4.990 -3.340 -0.253 -1.987 -1.596 0.000 0.000 0.000 835 . . . ID=COSV60027373;OCCURENCE=1(stomach) SLC6A16 196 0 126 44 0.258823529411765 TRUE TRUE +ENSG00000256087.7 . BCM GRCh38.p13 chr19 52034803 52034803 + A A - Frame_Shift_Del DEL ENST00000221315.10 exon5 c.876delT p.N292Kfs*93 exonic ENSG00000256087.7 . frameshift deletion ENSG00000256087.7:ENST00000221315.10:exon5:c.876delT:p.N292Kfs*93 19q13.41 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55418185;OCCURENCE=1(breast) ZNF432 86 0 59 20 0.253164556962025 TRUE TRUE +ENSG00000125966.10 . BCM GRCh38.p13 chr20 35271788 35271788 + A A G Missense_Mutation SNP ENST00000246186.8 exon8 c.A1553G p.K518R exonic ENSG00000125966.10 . nonsynonymous SNV ENSG00000125966.10:ENST00000246186.8:exon8:c.A1553G:p.K518R 20q11.22 C3L-00418 . . . . . . . . . 6.20 T T B B D D N T N 0.185 T T T 0.093 0.432 0.543 0.449 T T T T D D 2.564 22.600 0.993 D D -0.162 1.985 0.083 2.667 1.000 0.635 0.551 0.644 0.592 . 5.600 5.600 5.203 1.312 0.756 1.000 1.000 1.000 439 Hemopexin-like_domain . . . MMP24 152 0 104 35 0.251798561151079 TRUE TRUE +ENSG00000182670.13 . BCM GRCh38.p13 chr21 37166139 37166139 + G G A Missense_Mutation SNP ENST00000399017.6 exon33 c.G3925A p.A1309T exonic ENSG00000182670.13 . nonsynonymous SNV ENSG00000182670.13:ENST00000399017.6:exon33:c.G3925A:p.A1309T 21q22.13 C3L-00418 . . . . . . . . . 0.20 T T B B N N N T N 0.125 T T T 0.007 0.295 0.136 0.087 T T T T T T -0.626 0.064 0.904 N N -1.245 0.197 -1.197 0.285 1.000 0.706 0.725 0.710 0.714 . 5.090 -4.450 -1.561 -0.448 -0.120 0.014 0.485 0.743 890 . . . . TTC3 181 1 124 49 0.283236994219653 NA TRUE +ENSG00000062096.15 . BCM GRCh38.p13 chrX 3110133 3110133 + T T - Frame_Shift_Del DEL ENST00000381127.6 exon10 c.1271delT p.I424Mfs*50 exonic ENSG00000062096.15 . frameshift deletion ENSG00000062096.15:ENST00000381127.6:exon10:c.1271delT:p.I424Mfs*50 Xp22.33 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARSF 43 0 29 11 0.275 TRUE TRUE +ENSG00000102057.10 . BCM GRCh38.p13 chrX 48969267 48969267 + C C A Missense_Mutation SNP ENST00000218176.4 exon1 c.G1005T p.M335I exonic ENSG00000102057.10 . nonsynonymous SNV ENSG00000102057.10:ENST00000218176.4:exon1:c.G1005T:p.M335I Xp11.23 C3L-00418 . . . . . . . . . 14.19 T T B B D D N D D 0.519 D D D 0.709 0.566 0.735 1.059 D D D D D D 2.028 19.470 0.985 D . . . . . 1.000 . . . . . 5.390 5.390 6.068 1.010 0.580 1.000 1.000 0.994 40 Ion_transport_domain . . . KCND1 210 2 142 58 0.29 TRUE TRUE +ENSG00000171365.17 . BCM GRCh38.p13 chrX 50042336 50042336 + T T - Frame_Shift_Del DEL ENST00000376091.8 exon4 c.37delT p.Q14Sfs*17 exonic ENSG00000171365.17 . frameshift deletion ENSG00000171365.17:ENST00000376091.8:exon4:c.37delT:p.Q14Sfs*17 Xp11.23 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLCN5 49 0 38 22 0.366666666666667 TRUE TRUE +ENSG00000130829.18 . BCM GRCh38.p13 chrX 153649244 153649244 + G G A Missense_Mutation SNP ENST00000342782.4 exon3 c.G386A p.R129K exonic ENSG00000130829.18 . nonsynonymous SNV ENSG00000130829.18:ENST00000342782.4:exon3:c.G386A:p.R129K Xq28 C3L-00418 . . . . . . . . . 1.19 T T B B N N N T N 0.117 T T T 0.020 0.426 0.393 0.523 T T T T T T 0.976 11.310 0.721 D . . . . . 1.000 . . . . . 4.720 2.570 1.538 0.180 0.676 0.979 0.982 0.961 23 Rhodanese-like_domain . . . DUSP9 228 0 215 54 0.200743494423792 TRUE TRUE +ENSG00000108669.16 . BCM GRCh38.p13 chr17 78698381 78698381 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000108669.16 ENST00000361101.8:exon9:c.700-1G>T . . 17q25.3 C3L-00418 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.206 33 0.995 D . 1.105 17.719 0.925 14.883 1.000 0.279 0.261 0.084 0.221 0.977 4.650 4.650 7.796 1.026 0.599 1.000 1.000 0.991 899 . . . . CYTH1 155 0 116 29 0.2 TRUE TRUE +ENSG00000121904.17 . BCM GRCh38.p13 chr1 33819735 33819735 + G G A Silent SNP ENST00000373388.6 exon9 c.C1182T p.S394S exonic ENSG00000121904.17 . synonymous SNV ENSG00000121904.17:ENST00000373388.6:exon9:c.C1182T:p.S394S 1p35.1 C3L-00418 8.473e-06 0 0 0 0 0 0 6.285e-05 rs746022676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSMD2 136 0 100 49 0.328859060402685 TRUE NA +ENSG00000115289.14 . BCM GRCh38.p13 chr2 74506185 74506185 + C C G Silent SNP ENST00000233630.11 exon4 c.G420C p.G140G exonic ENSG00000115289.14 . synonymous SNV ENSG00000115289.14:ENST00000233630.11:exon4:c.G420C:p.G140G 2p13.1 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCGF1 126 0 66 23 0.258426966292135 TRUE TRUE +ENSG00000072195.15 . BCM GRCh38.p13 chr2 219489664 219489664 + G G T Silent SNP ENST00000312358.12 exon36 c.G8646T p.P2882P exonic ENSG00000072195.15 . synonymous SNV ENSG00000072195.15:ENST00000312358.12:exon36:c.G8646T:p.P2882P 2q35 C3L-00418 . . . . . . . . rs755097485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPEG 194 0 134 37 0.216374269005848 TRUE NA +ENSG00000204628.12 . BCM GRCh38.p13 chr5 181243795 181243795 + A A T Silent SNP ENST00000512805.6 exon1 c.T6A p.T2T exonic ENSG00000204628.12 . synonymous SNV ENSG00000204628.12:ENST00000512805.6:exon1:c.T6A:p.T2T 5q35.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RACK1 125 0 65 29 0.308510638297872 TRUE TRUE +ENSG00000107201.10 . BCM GRCh38.p13 chr9 32491350 32491350 + T T C Silent SNP ENST00000379883.3 exon5 c.A642G p.Q214Q exonic ENSG00000107201.10 . synonymous SNV ENSG00000107201.10:ENST00000379883.3:exon5:c.A642G:p.Q214Q 9p21.1 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDX58 167 0 168 17 0.0918918918918919 TRUE TRUE +ENSG00000148400.12 . BCM GRCh38.p13 chr9 136496152 136496152 + G G C Silent SNP ENST00000651671.1 exon34 c.C7587G p.V2529V exonic ENSG00000148400.12 . synonymous SNV ENSG00000148400.12:ENST00000651671.1:exon34:c.C7587G:p.V2529V 9q34.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOTCH1 138 1 217 75 0.256849315068493 TRUE TRUE +ENSG00000128815.19 . BCM GRCh38.p13 chr10 48743417 48743417 + C C T Silent SNP ENST00000325239.11 exon12 c.C2328T p.G776G exonic ENSG00000128815.19 . synonymous SNV ENSG00000128815.19:ENST00000325239.11:exon12:c.C2328T:p.G776G 10q11.23 C3L-00418 4.841e-05 0 0 0.0017 0 0 0 0 rs556802159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDFY4 204 0 149 30 0.167597765363128 TRUE NA +ENSG00000171840.12 . BCM GRCh38.p13 chr12 565247 565247 + C C T Silent SNP ENST00000305108.9 exon3 c.G417A p.R139R exonic ENSG00000171840.12 . synonymous SNV ENSG00000171840.12:ENST00000305108.9:exon3:c.G417A:p.R139R 12p13.33 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NINJ2 42 1 35 13 0.270833333333333 TRUE NA +ENSG00000155974.12 . BCM GRCh38.p13 chr12 66371910 66371910 + C C A Silent SNP ENST00000359742.8 exon23 c.G2796T p.G932G exonic ENSG00000155974.12 . synonymous SNV ENSG00000155974.12:ENST00000359742.8:exon23:c.G2796T:p.G932G 12q14.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIP1 206 0 162 60 0.27027027027027 TRUE TRUE +ENSG00000173064.13 . BCM GRCh38.p13 chr12 112183207 112183207 + C C T Silent SNP ENST00000377560.9 exon62 c.G10833A p.L3611L exonic ENSG00000173064.13 . synonymous SNV ENSG00000173064.13:ENST00000377560.9:exon62:c.G10833A:p.L3611L 12q24.13 C3L-00418 8.283e-06 0 0 0 0 1.499e-05 0 0 rs746648698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HECTD4 215 0 158 66 0.294642857142857 TRUE NA +ENSG00000175198.17 . BCM GRCh38.p13 chr13 100330565 100330565 + T T A Silent SNP ENST00000376285.6 exon17 c.T1434A p.V478V exonic ENSG00000175198.17 . synonymous SNV ENSG00000175198.17:ENST00000376285.6:exon17:c.T1434A:p.V478V 13q32.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCCA 185 0 155 65 0.295454545454545 TRUE TRUE +ENSG00000198718.13 . BCM GRCh38.p13 chr14 44963285 44963285 + C C A Silent SNP ENST00000361577.7 exon1 c.C864A p.G288G exonic ENSG00000198718.13 . synonymous SNV ENSG00000198718.13:ENST00000361577.7:exon1:c.C864A:p.G288G 14q21.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOGARAM1 85 0 70 21 0.230769230769231 TRUE TRUE +ENSG00000172345.14 . BCM GRCh38.p13 chr15 81324010 81324010 + G G A Silent SNP ENST00000302824.7 exon1 c.C90T p.C30C exonic ENSG00000172345.14 . synonymous SNV ENSG00000172345.14:ENST00000302824.7:exon1:c.C90T:p.C30C 15q25.1 C3L-00418 5.953e-05 0 0.0002 0 0 4.058e-05 0 9.93e-05 rs781744902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100250792;OCCURENCE=1(skin) STARD5 63 0 46 17 0.26984126984127 TRUE NA +ENSG00000007541.17 . BCM GRCh38.p13 chr16 578426 578426 + T T A Silent SNP ENST00000026218.9 exon5 c.T990A p.A330A exonic ENSG00000007541.17 . synonymous SNV ENSG00000007541.17:ENST00000026218.9:exon5:c.T990A:p.A330A 16p13.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIGQ 127 0 78 28 0.264150943396226 TRUE TRUE +ENSG00000129219.14 . BCM GRCh38.p13 chr17 4818774 4818774 + G G A Silent SNP ENST00000263088.11 exon21 c.G2124A p.R708R exonic ENSG00000129219.14 . synonymous SNV ENSG00000129219.14:ENST00000263088.11:exon21:c.G2124A:p.R708R 17p13.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLD2 199 0 163 10 0.0578034682080925 TRUE TRUE +ENSG00000100345.22 . BCM GRCh38.p13 chr22 36348967 36348967 + C C T Silent SNP ENST00000216181.11 exon2 c.G270A p.T90T exonic ENSG00000100345.22 . synonymous SNV ENSG00000100345.22:ENST00000216181.11:exon2:c.G270A:p.T90T 22q12.3 C3L-00418 1.649e-05 0 0 0 0 1.499e-05 0 6.06e-05 rs780422191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH9 203 0 184 68 0.26984126984127 TRUE NA +ENSG00000196440.11 . BCM GRCh38.p13 chrX 101492393 101492393 + G G T Silent SNP ENST00000423738.4 exon2 c.G3804T p.G1268G exonic ENSG00000196440.11 . synonymous SNV ENSG00000196440.11:ENST00000423738.4:exon2:c.G3804T:p.G1268G Xq22.1 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARMCX4 148 0 157 37 0.190721649484536 TRUE TRUE +ENSG00000160703.16 . BCM GRCh38.p13 chr11 119183929 119183929 + T T - 3'UTR SNP NA NA NA NA UTR3 ENSG00000160703.16 ENST00000409109.6:c.*490delT . . 11q23.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLRX1 87 0 60 18 0.230769230769231 TRUE TRUE +ENSG00000245248.8 . BCM GRCh38.p13 chr11 119395106 119395106 + T T G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000245248.8 . . . 11q23.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP2-AS1 115 0 79 33 0.294642857142857 TRUE NA +ENSG00000197653.16 . BCM GRCh38.p13 chr12 123908463 123908463 + T T C Intron SNP NA NA NA NA intronic ENSG00000197653.16 . . . 12q24.31 C3L-00418 . . . . . . . . . 0.6 . . . . . N . . . . . . . . . 0.128 . . . T T T . 0.245 3.643 0.407 N N -0.692 0.826 -0.912 0.604 1.000 0.487 0.574 0.547 0.542 . 2.170 -0.459 -0.031 0.871 0.665 0.000 0.002 0.004 726 . . . . DNAH10 349 0 312 93 0.22962962962963 TRUE NA +ENSG00000100814.18 . BCM GRCh38.p13 chr14 20315822 20315822 + T T C Intron SNP NA NA NA NA intronic ENSG00000100814.18 . . . 14q11.2 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCNB1IP1 62 0 53 19 0.263888888888889 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142092 10142093 + GC GC CT Unknown MNP ENST00000256474.3 exon1 c.245_246delinsCT p.R82P exonic ENSG00000134086.8 . nonframeshift substitution ENSG00000134086.8:ENST00000256474.3:exon1:c.245_246delinsCT:p.R82P 3p25.3 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56545086;OCCURENCE=2(kidney) VHL 317 0 125 67 0.348958333333333 TRUE NA +ENSG00000114331.15 . BCM GRCh38.p13 chr3 195442801 195442802 + CG CG GA Unknown MNP ENST00000326793.11 exon1 c.46_47delinsTC p.R16S exonic ENSG00000114331.15 . nonframeshift substitution ENSG00000114331.15:ENST00000326793.11:exon1:c.46_47delinsTC:p.R16S 3q29 C3L-00418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACAP2 144 0 102 28 0.215384615384615 TRUE TRUE +ENSG00000182827.9 . BCM GRCh38.p13 chr1 226165899 226165899 + G G T Missense_Mutation SNP ENST00000366812.6 exon2 c.C388A p.P130T exonic ENSG00000182827.9 . nonsynonymous SNV ENSG00000182827.9:ENST00000366812.6:exon2:c.C388A:p.P130T 1q42.12 C3L-00447 . . . . . . . . . 14.20 D D D D D D M T D 0.771 T T T 0.640 0.551 0.669 1.468 T T D D D D 3.992 26.900 0.998 D D 1.030 14.876 0.990 18.218 1.000 0.707 0.725 0.725 0.714 . 5.780 5.780 9.923 1.049 0.676 1.000 0.992 0.994 625 Acyl-CoA-binding_protein,_ACBP . . . ACBD3 114 0 108 32 0.228571428571429 TRUE TRUE +ENSG00000115207.13 . BCM GRCh38.p13 chr2 27328861 27328861 + G G A Nonsense_Mutation SNP ENST00000359541.6 exon15 c.C2110T p.R704X exonic ENSG00000115207.13 . stopgain ENSG00000115207.13:ENST00000359541.6:exon15:c.C2110T:p.R704X 2p23.3 C3L-00447 . . . . . . . . . 5.6 . . . . D A . . . 0.428 . . . . . . . . . D D . . 7.048 37 0.965 D N 0.219 3.387 0.084 2.670 0.008 0.707 0.725 0.702 0.714 . 5.500 3.590 2.629 0.218 -0.114 1.000 0.997 0.981 217 . . . . GTF3C2 159 0 167 65 0.280172413793103 TRUE TRUE +ENSG00000115657.14 . BCM GRCh38.p13 chr2 219218526 219218526 + A A T Missense_Mutation SNP ENST00000265316.9 exon1 c.T148A p.C50S exonic ENSG00000115657.14 . nonsynonymous SNV ENSG00000115657.14:ENST00000265316.9:exon1:c.T148A:p.C50S 2q35 C3L-00447 . . . . . . . . . 7.20 T T B B D D L T N 0.590 T T D 0.468 0.494 0.918 0.271 T T D D T T 2.318 21.700 0.906 D D -0.358 1.476 -0.192 1.806 1.000 0.468 0.484 0.504 0.242 . 5.210 4.010 2.915 0.320 0.679 1.000 0.966 0.788 546 Mitochondrial_ABC-transporter,_N-terminal_five_TM_domain . . . ABCB6 160 0 65 38 0.368932038834951 TRUE TRUE +ENSG00000142327.13 . BCM GRCh38.p13 chr2 240575060 240575060 + T T A Missense_Mutation SNP ENST00000270357.10 exon7 c.T1319A p.F440Y exonic ENSG00000142327.13 . nonsynonymous SNV ENSG00000142327.13:ENST00000270357.10:exon7:c.T1319A:p.F440Y 2q37.3 C3L-00447 . . . . . . . . . 6.12 . . . . D D . . . . T T T 0.190 . 0.317 0.734 D . T T D T 2.266 21.300 0.973 D D 0.094 2.864 0.170 3.042 1.000 0.672 0.644 0.723 0.711 . 3.810 3.810 3.594 1.138 0.609 1.000 1.000 0.998 994 Peptidase_M1,_membrane_alanine_aminopeptidase,_N-terminal . . . RNPEPL1 142 0 55 44 0.444444444444444 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149808 10149808 + G G A Missense_Mutation SNP ENST00000256474.3 exon3 c.G485A p.C162Y exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon3:c.G485A:p.C162Y 3p25.3 C3L-00447 . . . . . . . . rs397516444 20.20 D D D D D D M D D 0.893 D D D 0.895 0.979 1.000 1.415 D D D D D D 4.141 28.100 0.997 D D 0.726 7.496 0.688 7.542 1.000 0.722 0.702 0.702 0.735 . 4.860 4.860 5.641 1.176 0.676 1.000 1.000 0.996 379 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56546524;OCCURENCE=1(soft_tissue),8(kidney) VHL 369 1 164 109 0.399267399267399 TRUE TRUE +ENSG00000053108.17 . BCM GRCh38.p13 chr5 133400873 133400873 + C C T Missense_Mutation SNP ENST00000265342.12 exon4 c.G274A p.A92T exonic ENSG00000053108.17 . nonsynonymous SNV ENSG00000053108.17:ENST00000265342.12:exon4:c.G274A:p.A92T 5q31.1 C3L-00447 . . . . . . . . . 0.20 T T B B N N L T N 0.112 T T T 0.077 0.365 0.300 0.219 T T T T T T 0.916 10.610 0.925 N N -0.798 0.658 -0.774 0.795 0.999 0.516 0.547 0.651 0.542 . 5.570 1.650 -0.491 0.103 0.599 0.000 0.529 0.923 714 Kazal_domain . . . FSTL4 273 0 228 98 0.300613496932515 TRUE TRUE +ENSG00000136267.13 . BCM GRCh38.p13 chr7 14345303 14345303 + - NA A Nonsense_Mutation SNP ENST00000403951.6 exon22 c.1926_1927insT p.E643* exonic ENSG00000136267.13 . stopgain ENSG00000136267.13:ENST00000403951.6:exon22:c.1926_1927insT:p.E643* 7p21.2 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGKB NA NA NA NA NA NA NA +ENSG00000221938.5 . BCM GRCh38.p13 chr7 144129848 144129848 + G G A Missense_Mutation SNP ENST00000641068.1 exon2 c.G736A p.V246M exonic ENSG00000221938.5 . nonsynonymous SNV ENSG00000221938.5:ENST00000641068.1:exon2:c.G736A:p.V246M 7q35 C3L-00447 0.0001 0.0003 0 0 0 0.0002 0 0 rs201108825 5.20 D D D P U N M T D 0.255 T T T 0.139 . 0.321 0.237 T T T T T T 3.182 23.800 0.998 N N 0.356 4.081 0.180 3.085 0.000 0.487 0.574 0.547 0.646 . 4.180 4.180 1.303 0.223 0.672 0.010 0.969 0.710 910 GPCR,_rhodopsin-like,_7TM . . ID=COSV68717921;OCCURENCE=3(large_intestine),2(lung) OR2A14 317 0 331 20 0.056980056980057 NA TRUE +ENSG00000167700.9 . BCM GRCh38.p13 chr8 144509632 144509632 + C C T Missense_Mutation SNP ENST00000301327.5 exon1 c.C299T p.A100V exonic ENSG00000167700.9 . nonsynonymous SNV ENSG00000167700.9:ENST00000301327.5:exon1:c.C299T:p.A100V 8q24.3 C3L-00447 . . . . . . . . . 2.20 T T B B N N N T N 0.076 T T D 0.212 0.513 0.590 1.202 T T T T D T 1.087 12.640 0.981 N N -0.936 0.476 -0.920 0.593 1.000 0.442 0.219 0.522 0.250 . 4.710 2.730 -0.518 1.004 0.581 0.000 0.001 0.001 900 . . . . MFSD3 140 0 91 30 0.247933884297521 TRUE NA +ENSG00000136870.10 . BCM GRCh38.p13 chr9 101408989 101408989 + A A C Missense_Mutation SNP ENST00000339664.6 exon3 c.A1221C p.K407N exonic ENSG00000136870.10 . nonsynonymous SNV ENSG00000136870.10:ENST00000339664.6:exon3:c.A1221C:p.K407N 9q31.1 C3L-00447 . . . . . . . . . 10.20 D D D D D D M T D 0.631 T T D 0.213 0.483 0.253 0.405 T T T T D T 3.712 25.500 0.998 N N 0.493 4.981 0.363 4.106 1.000 0.461 0.553 0.576 0.636 . 4.490 4.490 2.151 1.312 0.756 0.978 1.000 0.999 868 Zinc_finger_C2H2-type . . . ZNF189 120 0 79 37 0.318965517241379 TRUE TRUE +ENSG00000186130.5 . BCM GRCh38.p13 chr9 122911674 122911674 + C C A Missense_Mutation SNP ENST00000373659.4 exon2 c.G399T p.M133I exonic ENSG00000186130.5 . nonsynonymous SNV ENSG00000186130.5:ENST00000373659.4:exon2:c.G399T:p.M133I 9q33.2 C3L-00447 . . . . . . . . . 3.20 T T B B N D L T N 0.349 T T T 0.166 0.247 0.269 0.605 T T D T T T 1.915 18.600 0.989 D N -0.061 2.303 0.165 3.019 1.000 0.490 0.587 0.576 0.662 . 5.960 5.960 3.783 1.026 0.599 1.000 1.000 1.000 908 . . . . ZBTB6 175 2 117 40 0.254777070063694 TRUE TRUE +ENSG00000212124.2 . BCM GRCh38.p13 chr12 11022337 11022337 + C C T Missense_Mutation SNP ENST00000390673.2 exon1 c.G235A p.E79K exonic ENSG00000212124.2 . nonsynonymous SNV ENSG00000212124.2:ENST00000390673.2:exon1:c.G235A:p.E79K 12p13.2 C3L-00447 . . . . . . . . . 0.19 T T B B U N N T N 0.134 T T T 0.074 0.599 0.124 0.008 T T T T T . -0.435 0.163 0.825 N N -1.268 0.183 -1.332 0.189 0.003 0.554 0.546 0.409 0.568 . 2.550 0.096 -3.007 -0.080 0.316 0.000 0.001 0.001 940 . . . . TAS2R19 286 0 202 81 0.286219081272085 TRUE TRUE +ENSG00000102802.10 . BCM GRCh38.p13 chr13 30906574 30906574 + G G T Missense_Mutation SNP ENST00000380482.9 exon1 c.G59T p.G20V exonic ENSG00000102802.10 . nonsynonymous SNV ENSG00000102802.10:ENST00000380482.9:exon1:c.G59T:p.G20V 13q12.3 C3L-00447 . . . . . . . . . 11.20 D T D D N D L T D 0.559 T T D 0.216 0.302 0.499 0.635 D T D T D T 4.048 27.300 0.997 D D 0.541 5.367 0.557 5.725 1.000 0.497 0.590 0.056 0.581 . 4.900 4.900 4.756 1.003 0.590 1.000 0.990 0.949 939 . . . . MEDAG 86 0 39 29 0.426470588235294 TRUE TRUE +ENSG00000182346.20 . BCM GRCh38.p13 chr13 105489953 105489953 + G G T Nonsense_Mutation SNP ENST00000618629.1 exon4 c.G334T p.E112X exonic ENSG00000182346.20 . stopgain ENSG00000182346.20:ENST00000618629.1:exon4:c.G334T:p.E112X 13q33.2 C3L-00447 . . . . . . . . . 3.5 . . . . . D . . . 0.527 . . . . . . . . . D D . . 4.791 33 0.982 N N 0.002 2.519 -0.443 1.296 0.108 0.487 0.574 0.574 0.564 . 2.370 -0.579 -0.381 -0.488 -0.196 0.000 0.000 0.002 992 . . . . DAOA 191 0 172 57 0.248908296943231 TRUE TRUE +ENSG00000140382.15 . BCM GRCh38.p13 chr15 77479287 77479287 + G G C Missense_Mutation SNP ENST00000336216.9 exon9 c.G1016C p.R339P exonic ENSG00000140382.15 . nonsynonymous SNV ENSG00000140382.15:ENST00000336216.9:exon9:c.G1016C:p.R339P 15q24.3 C3L-00447 . . . . . . . . . 17.20 D D D D D D M T D 0.979 D D D 0.705 0.422 0.868 1.550 T T D D D D 4.410 31 0.997 D D 0.810 8.983 0.793 9.911 1.000 0.722 0.725 0.725 0.735 . 6.030 5.120 9.602 1.176 0.676 1.000 1.000 1.000 0 . . . ID=COSV100287599;OCCURENCE=1(lung) HMG20A 147 0 110 46 0.294871794871795 TRUE TRUE +ENSG00000178773.15 . BCM GRCh38.p13 chr16 89584058 89584058 + G G A Missense_Mutation SNP ENST00000268720.9 exon6 c.G688A p.G230S exonic ENSG00000178773.15 . nonsynonymous SNV ENSG00000178773.15:ENST00000268720.9:exon6:c.G688A:p.G230S 16q24.3 C3L-00447 1.692e-05 0 0 0 0 3.089e-05 0 0 rs764118471 6.20 T T D P D D N T N 0.499 T T T 0.182 . 0.490 0.366 T T T T T D 2.336 21.800 0.998 D D 0.292 3.741 0.305 3.749 1.000 0.718 0.634 0.571 0.700 . 3.320 3.320 4.837 1.038 0.614 1.000 0.993 0.864 781 C2_domain;Copine,_C2B_domain . . . CPNE7 106 0 63 33 0.34375 TRUE NA +ENSG00000108963.18 . BCM GRCh38.p13 chr17 2033639 2033639 + C C T Nonsense_Mutation SNP ENST00000674200.1 exon2 c.C211T p.Q71X exonic ENSG00000108963.18 . stopgain ENSG00000108963.18:ENST00000674200.1:exon2:c.C211T:p.Q71X 17p13.3 C3L-00447 . . . . . . . . . 5.6 . . . . D D . . . 0.730 . . . . . . . . . D D . . 7.240 37 0.998 D N 0.939 12.105 0.813 10.514 1.000 0.707 0.725 0.688 0.714 . 5.520 5.520 3.647 1.026 0.599 0.998 0.996 0.997 344 . . . . DPH1 111 0 88 43 0.32824427480916 TRUE TRUE +ENSG00000161082.13 . BCM GRCh38.p13 chr19 3282448 3282448 + G G A Missense_Mutation SNP ENST00000292672.7 exon8 c.G989A p.G330E exonic ENSG00000161082.13 . nonsynonymous SNV ENSG00000161082.13:ENST00000292672.7:exon8:c.G989A:p.G330E 19p13.3 C3L-00447 . . . . . . . . . 15.20 D D D D D D M T D 0.855 T T D 0.184 0.454 0.438 0.399 T T D D D D 4.020 27.100 0.994 D D 0.429 4.526 0.380 4.219 1.000 0.696 0.590 0.723 0.639 . 4.080 4.080 5.382 1.176 0.676 1.000 0.066 0.183 964 . . . . CELF5 116 0 82 37 0.310924369747899 TRUE TRUE +ENSG00000089351.14 . BCM GRCh38.p13 chr19 35026127 35026127 + G G A Missense_Mutation SNP ENST00000317991.9 exon20 c.G2161A p.D721N exonic ENSG00000089351.14 . nonsynonymous SNV ENSG00000089351.14:ENST00000317991.9:exon20:c.G2161A:p.D721N 19q13.11 C3L-00447 . . . . . . . . . 3.19 T T B B D N . T N 0.216 T T T 0.068 0.142 0.043 0.363 T T T T T D 2.633 22.700 0.996 D N -0.422 1.336 -0.282 1.601 0.990 0.707 0.702 0.698 0.714 . 4.180 3.140 1.713 1.176 0.676 0.955 0.715 0.299 895 . . . . GRAMD1A 138 0 87 39 0.30952380952381 TRUE TRUE +ENSG00000125872.8 . BCM GRCh38.p13 chr20 6041571 6041573 + CGG CGG - In_Frame_Del DEL ENST00000378858.5 exon5 c.1672_1674del p.P558del exonic ENSG00000125872.8 . nonframeshift deletion ENSG00000125872.8:ENST00000378858.5:exon5:c.1672_1674del:p.P558del 20p12.3 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRN4 18 0 17 7 0.291666666666667 TRUE NA +ENSG00000167098.12 . BCM GRCh38.p13 chr20 33004267 33004267 + C C T Missense_Mutation SNP ENST00000356173.8 exon1 c.G74A p.R25Q exonic ENSG00000167098.12 . nonsynonymous SNV ENSG00000167098.12:ENST00000356173.8:exon1:c.G74A:p.R25Q 20q11.21 C3L-00447 . . . . . . . . rs929302638 8.20 D D D D N N L T D 0.548 T T T 0.133 0.139 0.351 0.364 T T T T D D 3.283 24.100 0.998 D N 0.446 4.643 0.350 4.019 0.998 0.487 0.590 0.573 0.564 . 4.370 4.370 1.691 1.026 0.549 0.998 0.885 0.145 102 . . . ID=COSV104553357;OCCURENCE=1(skin) SUN5 68 0 63 26 0.292134831460674 TRUE NA +ENSG00000112679.14 . BCM GRCh38.p13 chr6 345929 345943 + GTACGTGTGTCTCTT GTACGTGTGTCTCTT - Splice_Site DEL NA NA NA NA splicing ENSG00000112679.14 . . . 6p25.3 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP22 205 0 191 33 0.147321428571429 TRUE TRUE +ENSG00000156239.12 . BCM GRCh38.p13 chr21 28882984 28882984 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000156239.12 ENST00000303775.10:exon2:c.221+1G>T . . 21q21.3 C3L-00447 2.478e-05 0 0 0 0 4.507e-05 0 0 rs776268395 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.565 32 0.995 D . 1.150 20.031 1.002 18.941 1.000 0.162 0.061 0.084 0.246 0.980 5.340 5.340 5.927 1.023 0.595 1.000 1.000 0.997 964 . . . . N6AMT1 82 0 85 6 0.0659340659340659 TRUE NA +ENSG00000152894.14 . BCM GRCh38.p13 chr6 128089760 128089760 + G G C Silent SNP ENST00000368215.7 exon8 c.C1395G p.L465L exonic ENSG00000152894.14 . synonymous SNV ENSG00000152894.14:ENST00000368215.7:exon8:c.C1395G:p.L465L 6q22.33 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRK 188 0 138 83 0.375565610859729 TRUE NA +ENSG00000164715.6 . BCM GRCh38.p13 chr7 98191806 98191806 + C C T Silent SNP ENST00000297293.6 exon11 c.C1341T p.L447L exonic ENSG00000164715.6 . synonymous SNV ENSG00000164715.6:ENST00000297293.6:exon11:c.C1341T:p.L447L 7q21.3 C3L-00447 1.648e-05 0.0002 0 0 0 0 0 0 rs375715976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LMTK2 117 0 103 58 0.360248447204969 TRUE NA +ENSG00000147548.17 . BCM GRCh38.p13 chr8 38276498 38276498 + C C A Silent SNP ENST00000317025.13 exon23 c.G3870T p.S1290S exonic ENSG00000147548.17 . synonymous SNV ENSG00000147548.17:ENST00000317025.13:exon23:c.G3870T:p.S1290S 8p11.23 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NSD3 130 0 73 34 0.317757009345794 TRUE TRUE +ENSG00000059769.20 . BCM GRCh38.p13 chr9 111649503 111649503 + A A G Silent SNP ENST00000313525.4 exon3 c.A540G p.T180T exonic ENSG00000059769.20 . synonymous SNV ENSG00000059769.20:ENST00000313525.4:exon3:c.A540G:p.T180T 9q31.3 C3L-00447 1.712e-05 0 0 0 0 3.092e-05 0 0 rs776791144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJC25 78 0 62 17 0.215189873417722 TRUE NA +ENSG00000119917.14 . BCM GRCh38.p13 chr10 89338988 89338988 + A A T Silent SNP ENST00000371818.9 exon2 c.A333T p.S111S exonic ENSG00000119917.14 . synonymous SNV ENSG00000119917.14:ENST00000371818.9:exon2:c.A333T:p.S111S 10q23.31 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFIT3 122 0 92 42 0.313432835820896 TRUE TRUE +ENSG00000108231.13 . BCM GRCh38.p13 chr10 93797098 93797098 + T T C Silent SNP ENST00000371418.9 exon8 c.T969C p.D323D exonic ENSG00000108231.13 . synonymous SNV ENSG00000108231.13:ENST00000371418.9:exon8:c.T969C:p.D323D 10q23.33 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LGI1 128 0 82 35 0.299145299145299 TRUE TRUE +ENSG00000175274.18 . BCM GRCh38.p13 chr11 44935010 44935010 + A A T Silent SNP ENST00000533940.5 exon10 c.T444A p.T148T exonic ENSG00000175274.18 . synonymous SNV ENSG00000175274.18:ENST00000533940.5:exon10:c.T444A:p.T148T 11p11.2 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53I11 123 0 115 43 0.272151898734177 TRUE TRUE +ENSG00000172247.4 . BCM GRCh38.p13 chr11 47590742 47590742 + C C T Silent SNP ENST00000302514.4 exon2 c.G69A p.P23P exonic ENSG00000172247.4 . synonymous SNV ENSG00000172247.4:ENST00000302514.4:exon2:c.G69A:p.P23P 11p11.2 C3L-00447 6.048e-05 0 0.0006 0 0 0 0 0 rs754704315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56782761;OCCURENCE=1(stomach) C1QTNF4 129 0 62 32 0.340425531914894 TRUE TRUE +ENSG00000125872.8 . BCM GRCh38.p13 chr20 6041574 6041574 + G G A Silent SNP ENST00000378858.5 exon5 c.C1671T p.T557T exonic ENSG00000125872.8 . synonymous SNV ENSG00000125872.8:ENST00000378858.5:exon5:c.C1671T:p.T557T 20p12.3 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRN4 19 0 18 8 0.307692307692308 NA TRUE +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167258473 167258473 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000163092.21 ENST00000628543.2:c.*656A>T . . 2q24.3 C3L-00447 . . . . . . . . . 6.16 D D D P . D . T N 0.157 T T D 0.294 0.253 0.541 . . . T T T T 0.912 10.570 0.939 D N 0.287 3.714 0.293 3.676 0.987 0.554 0.574 0.547 0.621 . 5.810 5.810 3.022 1.312 0.756 1.000 0.034 0.020 562 . . . . XIRP2 263 0 151 60 0.28436018957346 TRUE NA +ENSG00000270141.3 . BCM GRCh38.p13 chr3 169764644 169764644 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000270141.3;ENSG00000277925.1 . . . 3q26.2 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TERC 33 0 30 13 0.302325581395349 TRUE NA +ENSG00000149452.16 . BCM GRCh38.p13 chr11 62995950 62995950 + G G A Intron SNP NA NA NA NA intronic ENSG00000149452.16 . . . 11q12.3 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC22A8 101 0 66 42 0.388888888888889 TRUE NA +ENSG00000238917.1 . BCM GRCh38.p13 chr17 7576909 7576909 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000238917.1 . . . 17p13.1 C3L-00447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD10 68 0 49 35 0.416666666666667 TRUE NA +ENSG00000109118.14 . BCM GRCh38.p13 chr17 28910075 28910075 + G G A Intron SNP NA NA NA NA intronic ENSG00000109118.14 . . . 17q11.2 C3L-00447 . . . . . . . . . 4.12 . D . . . N . D . 0.173 T T T 0.077 0.247 0.068 . . . D D T T 0.746 8.873 0.474 N N -0.647 0.903 -0.659 0.959 0.997 0.563 0.654 0.609 0.636 . 5.330 3.290 -0.047 -0.160 0.596 0.001 0.027 0.242 303 . . . . PHF12 105 0 75 26 0.257425742574257 TRUE NA +ENSG00000162592.10 . BCM GRCh38.p13 chr1 3756802 3756802 + - NA T Frame_Shift_Ins INS ENST00000294600.7 exon4 c.624dupT p.L209Ffs*35 exonic ENSG00000162592.10 . frameshift insertion ENSG00000162592.10:ENST00000294600.7:exon4:c.624dupT:p.L209Ffs*35 1p36.32 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC27 NA NA NA NA NA NA NA +ENSG00000154222.14 . BCM GRCh38.p13 chr1 52354614 52354614 + A A - Frame_Shift_Del DEL ENST00000371586.6 exon23 c.2442delT p.I814Mfs*17 exonic ENSG00000154222.14 . frameshift deletion ENSG00000154222.14:ENST00000371586.6:exon23:c.2442delT:p.I814Mfs*17 1p32.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CC2D1B 111 0 88 43 0.32824427480916 TRUE TRUE +ENSG00000154222.14 . BCM GRCh38.p13 chr1 52354621 52354621 + C C T Missense_Mutation SNP ENST00000371586.6 exon23 c.G2435A p.R812K exonic ENSG00000154222.14 . nonsynonymous SNV ENSG00000154222.14:ENST00000371586.6:exon23:c.G2435A:p.R812K 1p32.3 C3L-00448 . . . . . . . . . 11.20 D D D D D D M T N 0.602 T T T 0.199 0.387 0.691 0.215 T T T T D D 3.922 26.500 0.996 D D 0.809 8.950 0.812 10.478 1.000 0.672 0.698 0.702 0.636 . 5.650 5.650 7.304 1.026 0.599 1.000 1.000 0.979 353 C2_domain;Freud,_C2_domain . . . CC2D1B 124 0 95 36 0.274809160305344 TRUE NA +ENSG00000197780.10 . BCM GRCh38.p13 chr1 109064688 109064688 + G G C Missense_Mutation SNP ENST00000338366.6 exon4 c.C210G p.H70Q exonic ENSG00000197780.10 . nonsynonymous SNV ENSG00000197780.10:ENST00000338366.6:exon4:c.C210G:p.H70Q 1p13.3 C3L-00448 . . . . . . . . . 9.19 T T B B D D L . D 0.844 T T T 0.310 0.497 0.238 0.967 D T D D T D 1.944 18.830 0.952 D D -0.307 1.597 -0.157 1.893 0.005 0.732 0.744 0.744 0.728 . 4.800 2.880 3.202 1.146 0.672 1.000 1.000 0.999 861 . . . . TAF13 43 0 50 9 0.152542372881356 TRUE NA +ENSG00000187862.12 . BCM GRCh38.p13 chr1 156581689 156581689 + G G T Nonsense_Mutation SNP ENST00000368236.7 exon2 c.G325T p.E109X exonic ENSG00000187862.12 . stopgain ENSG00000187862.12:ENST00000368236.7:exon2:c.G325T:p.E109X 1q22 C3L-00448 . . . . . . . . . 3.6 . . . . N A . . . 0.051 . . . . . . . . . D D . . 6.134 35 0.996 N N 0.099 2.881 -0.215 1.750 1.000 0.497 0.492 0.489 0.542 . 4.540 2.610 1.277 0.224 0.676 0.400 0.657 0.721 693 Tetratricopeptide_repeat-containing_domain . . . TTC24 330 0 187 66 0.260869565217391 TRUE TRUE +ENSG00000163554.15 . BCM GRCh38.p13 chr1 158642960 158642960 + C C G Missense_Mutation SNP ENST00000643759.2 exon32 c.G4459C p.A1487P exonic ENSG00000163554.15 . nonsynonymous SNV ENSG00000163554.15:ENST00000643759.2:exon32:c.G4459C:p.A1487P 1q23.1 C3L-00448 . . . . . . . . . 4.20 T T P B N N M T N 0.381 T T D 0.115 0.528 0.670 0.068 T T T T T T 1.526 15.900 0.963 D D -0.235 1.780 -0.286 1.593 0.019 0.554 0.574 0.574 0.621 . 5.200 1.140 2.039 1.026 0.599 0.996 0.782 0.907 607 . . . . SPTA1 342 0 241 76 0.239747634069401 TRUE TRUE +ENSG00000136643.12 . BCM GRCh38.p13 chr1 213241283 213241283 + A A T Missense_Mutation SNP ENST00000366960.8 exon11 c.A1807T p.I603L exonic ENSG00000136643.12 . nonsynonymous SNV ENSG00000136643.12:ENST00000366960.8:exon11:c.A1807T:p.I603L 1q32.3 C3L-00448 . . . . . . . . . 11.20 D D D D D D M T N 0.611 T T T 0.241 0.130 0.410 0.407 T T T T D D 3.744 25.600 0.994 D D 0.769 8.205 0.753 8.882 1.000 0.707 0.654 0.659 0.714 . 5.390 5.390 8.395 1.312 0.756 1.000 1.000 0.999 521 . . . . RPS6KC1 155 0 99 26 0.208 TRUE TRUE +ENSG00000143921.9 . BCM GRCh38.p13 chr2 43877627 43877627 + T T A Missense_Mutation SNP ENST00000272286.4 exon12 c.T1823A p.F608Y exonic ENSG00000143921.9 . nonsynonymous SNV ENSG00000143921.9:ENST00000272286.4:exon12:c.T1823A:p.F608Y 2p21 C3L-00448 . . . . . . . . . 9.20 D T P B D D M T N 0.393 T T D 0.423 0.803 0.515 0.021 T D T T D T 1.982 19.120 0.953 D D -0.039 2.375 -0.015 2.308 1.000 0.487 0.574 0.547 0.542 . 5.180 5.180 5.661 1.109 0.609 1.000 0.239 0.227 824 ABC-2_type_transporter . . . ABCG8 381 0 246 211 0.461706783369803 TRUE TRUE +ENSG00000115592.11 . BCM GRCh38.p13 chr2 218830181 218830181 + C C A Missense_Mutation SNP ENST00000439262.6 exon4 c.G430T p.A144S exonic ENSG00000115592.11 . nonsynonymous SNV ENSG00000115592.11:ENST00000439262.6:exon4:c.G430T:p.A144S 2q35 C3L-00448 . . . . . . . . . 2.20 T T B B N N L D N 0.124 T T D 0.080 0.290 0.797 0.048 T T T T T T 0.632 7.818 0.971 N N -0.926 0.489 -0.926 0.585 1.000 0.517 0.590 0.479 0.613 . 5.880 0.930 -0.081 0.129 -0.182 0.000 0.039 0.733 856 . . . . PRKAG3 136 0 86 35 0.289256198347107 TRUE NA +ENSG00000153823.18 . BCM GRCh38.p13 chr2 229155916 229155916 + T T A Nonsense_Mutation SNP ENST00000354069.6 exon2 c.A178T p.K60X exonic ENSG00000153823.18 . stopgain ENSG00000153823.18:ENST00000354069.6:exon2:c.A178T:p.K60X 2q36.3 C3L-00448 . . . . . . . . . 5.6 . . . . D D . . . 0.885 . . . . . . . . . D D . . 8.788 45 0.997 D N 1.148 19.926 1.012 19.622 1.000 0.638 0.574 0.653 0.564 . 5.740 5.740 7.517 1.049 0.665 1.000 1.000 0.998 904 . . . . PID1 163 0 129 35 0.213414634146341 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149876 10149876 + T T - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.553delT p.Y185Tfs*17 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.553delT:p.Y185Tfs*17 3p25.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56572406;OCCURENCE=1(kidney) VHL 405 0 138 91 0.397379912663755 TRUE TRUE +ENSG00000185313.8 . BCM GRCh38.p13 chr3 38697664 38697664 + G G T Missense_Mutation SNP ENST00000449082.3 exon28 c.C5556A p.D1852E exonic ENSG00000185313.8 . nonsynonymous SNV ENSG00000185313.8:ENST00000449082.3:exon28:c.C5556A:p.D1852E 3p22.2 C3L-00448 . . . . . . . . . 2.20 T T B B D N N D N 0.101 T T T 0.247 0.383 0.627 0.057 T T T T T T 0.673 8.209 0.549 N N -0.884 0.540 -0.733 0.852 0.003 0.487 0.590 0.574 0.613 . 5.280 1.240 -0.075 1.176 0.676 0.000 1.000 0.993 806 . . . . SCN10A 215 0 89 60 0.402684563758389 TRUE TRUE +ENSG00000114904.13 . BCM GRCh38.p13 chr3 52739592 52739592 + C C A Missense_Mutation SNP ENST00000233027.10 exon14 c.G2136T p.M712I exonic ENSG00000114904.13 . nonsynonymous SNV ENSG00000114904.13:ENST00000233027.10:exon14:c.G2136T:p.M712I 3p21.1 C3L-00448 . . . . . . . . . 15.20 D D D P D D M T N 0.807 D D D 0.434 0.458 0.897 0.302 T T D D D D 3.783 25.800 0.997 D D 0.751 7.900 0.775 9.414 1.000 0.707 0.725 0.725 0.674 . 5.990 5.990 7.024 1.026 0.599 1.000 1.000 0.996 28 . . . . NEK4 221 0 87 60 0.408163265306122 TRUE TRUE +ENSG00000113790.11 . BCM GRCh38.p13 chr3 185192861 185192861 + C C T Missense_Mutation SNP ENST00000231887.8 exon7 c.G1537A p.G513S exonic ENSG00000113790.11 . nonsynonymous SNV ENSG00000113790.11:ENST00000231887.8:exon7:c.G1537A:p.G513S 3q27.2 C3L-00448 . . . . . . . . rs976593025 19.20 D D D D D D M D D 0.866 D D D 0.943 0.926 0.855 0.409 T D D D D D 3.557 24.900 0.998 D D 0.832 9.435 0.758 8.983 0.999 0.615 0.588 0.659 0.621 . 5.910 5.030 5.715 0.094 0.599 1.000 0.994 0.990 670 3-hydroxyacyl-CoA_dehydrogenase,_C-terminal . . . EHHADH 141 0 92 40 0.303030303030303 TRUE NA +ENSG00000172061.9 . BCM GRCh38.p13 chr3 194359672 194359672 + T T C Missense_Mutation SNP ENST00000347624.4 exon2 c.A1372G p.N458D exonic ENSG00000172061.9 . nonsynonymous SNV ENSG00000172061.9:ENST00000347624.4:exon2:c.A1372G:p.N458D 3q29 C3L-00448 . . . . . . . . . 0.20 T T B B N N L T N 0.087 T T T 0.061 0.382 0.445 . T T T T T T 1.178 13.460 0.395 N N -0.969 0.438 -0.897 0.624 0.833 0.497 0.590 0.316 0.530 . 5.240 2.860 -0.091 1.138 0.665 0.004 0.016 0.028 845 Cysteine-rich_flanking_region,_C-terminal . . . LRRC15 179 0 147 61 0.293269230769231 TRUE TRUE +ENSG00000138688.15 . BCM GRCh38.p13 chr4 122255248 122255248 + C C T Nonsense_Mutation SNP ENST00000264501.8 exon40 c.C6343T p.Q2115X exonic ENSG00000138688.15 . stopgain ENSG00000138688.15:ENST00000264501.8:exon40:c.C6343T:p.Q2115X 4q27 C3L-00448 . . . . . . . . . 5.7 . . . . U A . . . 0.590 . . . . . . . . . D D D . 8.224 41 0.998 D N 1.200 23.661 1.073 24.274 1.000 0.651 0.654 0.651 0.674 . 5.860 5.860 7.842 1.026 0.549 1.000 1.000 0.998 826 . . . . KIAA1109 93 0 72 4 0.0526315789473684 TRUE NA +ENSG00000164253.14 . BCM GRCh38.p13 chr5 77453825 77453825 + - NA C Frame_Shift_Ins INS ENST00000296679.9 exon6 c.514_515insG p.S172Cfs*2 exonic ENSG00000164253.14 . frameshift insertion ENSG00000164253.14:ENST00000296679.9:exon6:c.514_515insG:p.S172Cfs*2 5q13.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR41 NA NA NA NA NA NA NA +ENSG00000158402.20 . BCM GRCh38.p13 chr5 138331060 138331060 + C C G Missense_Mutation SNP ENST00000323760.11 exon2 c.G121C p.V41L exonic ENSG00000158402.20 . nonsynonymous SNV ENSG00000158402.20:ENST00000323760.11:exon2:c.G121C:p.V41L 5q31.2 C3L-00448 . . . . . . . . . 0.20 T T B B N N N T N 0.040 T T T 0.032 0.177 0.422 0.163 T T T T T T 0.562 7.135 0.665 N N -1.579 0.060 -1.625 0.068 1.000 0.543 0.587 0.686 0.665 . 4.490 -7.150 -0.171 -0.262 -0.773 0.014 0.980 0.871 342 . . . . CDC25C 206 0 140 50 0.263157894736842 TRUE TRUE +ENSG00000120318.16 . BCM GRCh38.p13 chr5 141662253 141662253 + G G C Missense_Mutation SNP ENST00000239440.9 exon20 c.C2803G p.L935V exonic ENSG00000120318.16 . nonsynonymous SNV ENSG00000120318.16:ENST00000239440.9:exon20:c.C2803G:p.L935V 5q31.3 C3L-00448 . . . . . . . . . 14.20 D D D D D D M T D 0.845 T T D 0.345 0.804 0.623 1.052 T T D T D D 3.142 23.700 0.998 D D 0.696 7.066 0.638 6.740 1.000 0.744 0.547 0.630 0.714 . 5.160 4.270 2.621 -0.138 -0.123 1.000 0.989 0.795 755 Rho_GTPase-activating_protein_domain;ARAP,_RhoGAP_domain . . . ARAP3 127 0 81 39 0.325 TRUE TRUE +ENSG00000127022.15 . BCM GRCh38.p13 chr5 179720550 179720550 + C C T Missense_Mutation SNP ENST00000247461.9 exon10 c.C1172T p.P391L exonic ENSG00000127022.15 . nonsynonymous SNV ENSG00000127022.15:ENST00000247461.9:exon10:c.C1172T:p.P391L 5q35.3 C3L-00448 . . . . . . . . . 17.19 D D D D D D H T D 0.610 D D D 0.676 0.890 0.583 0.888 T D D D D . 3.781 25.700 0.999 D D 0.997 13.833 0.883 13.053 1.000 0.707 0.725 0.725 0.711 . 5.650 5.650 5.885 1.024 0.599 1.000 0.999 0.888 830 . . . . CANX 117 0 72 33 0.314285714285714 TRUE TRUE +ENSG00000171467.16 . BCM GRCh38.p13 chr6 43338164 43338164 + G G A Missense_Mutation SNP ENST00000361428.3 exon10 c.C5834T p.S1945L exonic ENSG00000171467.16 . nonsynonymous SNV ENSG00000171467.16:ENST00000361428.3:exon10:c.C5834T:p.S1945L 6p21.1 C3L-00448 . . . . . . . . . 4.20 D D B B N D L T N 0.168 T T T 0.049 0.255 0.215 0.122 T T T T D T 2.261 21.300 0.996 N N -0.449 1.279 -0.337 1.489 1.000 0.628 0.672 0.659 0.636 . 5.710 3.830 0.598 1.006 0.676 0.009 0.998 0.956 156 . . . . ZNF318 148 0 111 39 0.26 TRUE TRUE +ENSG00000146263.11 . BCM GRCh38.p13 chr6 97233959 97233959 + A A C Missense_Mutation SNP ENST00000275053.8 exon12 c.T1204G p.L402V exonic ENSG00000146263.11 . nonsynonymous SNV ENSG00000146263.11:ENST00000275053.8:exon12:c.T1204G:p.L402V 6q16.1 C3L-00448 . . . . . . . . . 3.20 T T B B N D L T N 0.151 T T T 0.013 0.267 0.068 0.367 T T T T D T 1.931 18.730 0.991 D N -0.048 2.344 0.066 2.600 0.998 0.615 0.634 0.602 0.655 . 5.390 4.160 1.081 1.312 0.756 0.758 1.000 0.994 780 Protein_MMS22-like,_N-terminal . . . MMS22L 94 0 34 17 0.333333333333333 TRUE TRUE +ENSG00000118495.20 . BCM GRCh38.p13 chr6 143941798 143941798 + G G C Missense_Mutation SNP ENST00000674357.1 exon8 c.C1018G p.Q340E exonic ENSG00000118495.20 . nonsynonymous SNV ENSG00000118495.20:ENST00000674357.1:exon8:c.C1018G:p.Q340E 6q24.2 C3L-00448 . . . . . . . . . 1.20 T T B B N N L T N 0.112 T T T 0.058 0.246 0.342 0.444 T T T T T T 1.892 18.430 0.934 D N -0.457 1.262 -0.273 1.621 0.030 0.706 0.710 0.676 0.613 . 5.680 3.930 3.356 0.162 -0.163 1.000 0.998 0.997 869 . . . . PLAGL1 290 0 187 79 0.296992481203008 TRUE TRUE +ENSG00000131023.13 . BCM GRCh38.p13 chr6 149680241 149680241 + G G A Missense_Mutation SNP ENST00000543571.6 exon5 c.C2227T p.L743F exonic ENSG00000131023.13 . nonsynonymous SNV ENSG00000131023.13:ENST00000543571.6:exon5:c.C2227T:p.L743F 6q25.1 C3L-00448 . . . . . . . . . 10.20 T D D D D D N T N 0.373 T T T 0.147 0.349 0.369 1.820 D T T T D D 3.788 25.800 0.999 D D 0.628 6.216 0.661 7.079 1.000 0.707 0.616 0.659 0.714 . 5.490 5.490 5.491 1.172 0.672 1.000 1.000 0.998 416 Protein_kinase_domain . . . LATS1 106 0 53 28 0.345679012345679 TRUE TRUE +ENSG00000049618.24 . BCM GRCh38.p13 chr6 156778687 156778687 + A A C Missense_Mutation SNP ENST00000636930.2 exon1 c.A1007C p.D336A exonic ENSG00000049618.24 . nonsynonymous SNV ENSG00000049618.24:ENST00000636930.2:exon1:c.A1007C:p.D336A 6q25.3 C3L-00448 . . . . . . . . . 5.19 D T P B . N L T N 0.249 T T D 0.129 0.304 0.196 0.362 D T T T D T 3.087 23.600 0.858 D N -0.049 2.342 0.010 2.393 1.000 0.267 0.484 0.474 0.492 . 2.780 2.780 4.279 1.039 0.520 1.000 1.000 0.988 931 . . . . ARID1B 174 0 103 43 0.294520547945205 TRUE TRUE +ENSG00000126522.17 . BCM GRCh38.p13 chr7 66092648 66092648 + A A T Missense_Mutation SNP ENST00000450043.2 exon7 c.A548T p.E183V exonic ENSG00000126522.17;ENSG00000249319.2 . nonsynonymous SNV ENSG00000249319.2:ENST00000450043.2:exon7:c.A548T:p.E183V,ENSG00000126522.17:ENST00000304874.14:exon16:c.A1235T:p.E412V 7q11.21 C3L-00448 . . . . . . . . . 15.20 D D B B D D L D D 0.509 D D D 0.633 0.477 0.969 0.416 T D D T D D 4.332 29.800 0.985 D D 0.329 3.932 0.408 4.413 1.000 0.707 0.607 0.723 0.714 . 5.280 5.280 7.764 1.185 0.686 1.000 0.995 0.922 474 Argininosuccinate_lyase,_C-terminal . . . ASL 403 0 270 230 0.46 TRUE TRUE +ENSG00000091128.13 . BCM GRCh38.p13 chr7 108048023 108048023 + C C T Missense_Mutation SNP ENST00000388781.8 exon28 c.G4211A p.R1404K exonic ENSG00000091128.13 . nonsynonymous SNV ENSG00000091128.13:ENST00000388781.8:exon28:c.G4211A:p.R1404K 7q31.1 C3L-00448 . . . . . . . . . 2.20 D D B B N N N T N 0.189 T T T 0.048 0.312 0.014 0.064 T T T T T T 0.880 10.220 0.867 N N -1.245 0.197 -1.274 0.227 0.574 0.560 0.547 0.574 0.550 . 3.010 0.110 1.334 -0.056 -0.445 0.159 0.001 0.002 711 . . . . LAMB4 310 0 199 136 0.405970149253731 TRUE TRUE +ENSG00000004866.20 . BCM GRCh38.p13 chr7 117131951 117131951 + A A T Missense_Mutation SNP ENST00000265437.9 exon6 c.A632T p.E211V exonic ENSG00000004866.20 . nonsynonymous SNV ENSG00000004866.20:ENST00000265437.9:exon6:c.A632T:p.E211V 7q31.2 C3L-00448 . . . . . . . . . 16.20 D D D D D D M T D 0.797 T T D 0.461 0.671 0.227 2.093 D T D D D D 3.802 25.800 0.992 D D 0.706 7.205 0.749 8.773 1.000 0.706 0.725 0.710 0.635 . 5.940 5.940 9.062 1.312 0.756 1.000 1.000 0.999 444 . . . . ST7 153 1 132 51 0.278688524590164 TRUE TRUE +ENSG00000146926.11 . BCM GRCh38.p13 chr7 151176112 151176112 + C C G Nonstop_Mutation SNP ENST00000420175.3 exon5 c.G1404C p.X468Y exonic ENSG00000146926.11 . stoploss ENSG00000146926.11:ENST00000420175.3:exon5:c.G1404C:p.X468Y 7q36.1 C3L-00448 . . . . . . . . . 1.4 . . . . . N . . . 0.061 . . . . . . . . . T T . . -1.031 0.006 0.839 D . 0.865 10.184 0.669 7.202 1.000 0.167 0.069 0.182 0.109 0.877 4.490 3.600 0.288 1.026 0.599 0.989 0.995 0.963 906 . . . . ASB10 113 0 87 29 0.25 TRUE TRUE +ENSG00000003989.18 . BCM GRCh38.p13 chr8 17562018 17562018 + C C A Missense_Mutation SNP ENST00000494857.6 exon11 c.C1579A p.L527I exonic ENSG00000003989.18 . nonsynonymous SNV ENSG00000003989.18:ENST00000494857.6:exon11:c.C1579A:p.L527I 8p22 C3L-00448 . . . . . . . . . 2.20 T T B B N D N D N 0.144 T T T 0.227 0.420 0.593 0.021 T T T T T T 0.259 3.813 0.228 N N -0.841 0.597 -0.714 0.879 0.988 0.732 0.574 0.744 0.714 . 4.960 3.060 -0.165 1.026 0.599 0.000 0.575 0.710 840 . . . . SLC7A2 146 0 120 28 0.189189189189189 TRUE TRUE +ENSG00000169398.19 . BCM GRCh38.p13 chr8 140659660 140659660 + G G C Missense_Mutation SNP ENST00000522684.5 exon32 c.C2965G p.L989V exonic ENSG00000169398.19 . nonsynonymous SNV ENSG00000169398.19:ENST00000522684.5:exon32:c.C2965G:p.L989V 8q24.3 C3L-00448 . . . . . . . . . 7.20 T T P P D D N T N 0.412 T T T 0.131 0.712 0.436 0.370 D T T T D D 2.618 22.700 0.997 D D -0.056 2.317 0.107 2.764 1.000 0.707 0.805 0.702 0.714 . 5.750 4.880 4.687 1.176 0.676 1.000 0.446 0.940 982 Focal_adhesion_kinase,_targeting_(FAT)_domain . . . PTK2 167 0 118 42 0.2625 TRUE TRUE +ENSG00000086102.19 . BCM GRCh38.p13 chr9 33311122 33311122 + C C T Missense_Mutation SNP ENST00000379540.8 exon6 c.C1393T p.P465S exonic ENSG00000086102.19 . nonsynonymous SNV ENSG00000086102.19:ENST00000379540.8:exon6:c.C1393T:p.P465S 9p13.3 C3L-00448 . . . . . . . . . 13.20 T T D D D D M T D 0.729 T T D 0.473 0.595 0.663 0.748 T T D D D D 3.336 24.200 0.999 D D 0.874 10.403 0.843 11.530 1.000 0.732 0.725 0.744 0.735 . 5.560 5.560 7.685 1.026 0.599 1.000 0.999 0.985 394 Zinc_finger,_NF-X1-type . . . NFX1 108 0 90 45 0.333333333333333 TRUE TRUE +ENSG00000182150.17 . BCM GRCh38.p13 chr9 95897936 95897936 + A A G Missense_Mutation SNP ENST00000653738.2 exon3 c.A559G p.M187V exonic ENSG00000182150.17 . nonsynonymous SNV ENSG00000182150.17:ENST00000653738.2:exon3:c.A559G:p.M187V 9q22.32 C3L-00448 . . . . . . . . . 3.16 T T . . N N . D N 0.169 T T D 0.238 0.417 0.612 0.217 T . T T T T 1.220 13.790 0.479 D N -0.661 0.879 -0.538 1.142 1.000 0.615 0.634 0.602 0.655 . 4.720 2.370 1.236 1.288 0.756 0.988 0.999 0.976 819 . . . . ERCC6L2 126 0 56 30 0.348837209302326 TRUE TRUE +ENSG00000138835.22 . BCM GRCh38.p13 chr9 113461824 113461824 + G G C Missense_Mutation SNP ENST00000374140.6 exon3 c.G198C p.R66S exonic ENSG00000138835.22 . nonsynonymous SNV ENSG00000138835.22:ENST00000374140.6:exon3:c.G198C:p.R66S 9q32 C3L-00448 . . . . . . . . . 1.20 D T B B N N N T N 0.126 T T T 0.045 0.267 0.236 0.225 T T T T T T -0.008 1.289 0.880 N N -1.531 0.072 -1.629 0.067 1.000 0.487 0.574 0.563 0.613 . 3.510 -7.020 -1.076 -2.127 -0.815 0.000 0.000 0.044 848 . . . . RGS3 84 0 62 25 0.28735632183908 TRUE TRUE +ENSG00000095303.17 . BCM GRCh38.p13 chr9 122371264 122371264 + C C T Missense_Mutation SNP ENST00000362012.7 exon2 c.C86T p.P29L exonic ENSG00000095303.17 . nonsynonymous SNV ENSG00000095303.17:ENST00000362012.7:exon2:c.C86T:p.P29L 9q33.2 C3L-00448 . . . . . . . . . 4.20 D T B B N D N T N 0.248 T T D 0.215 0.371 0.798 0.282 T T T T D T 1.949 18.870 0.979 N N -0.689 0.832 -0.632 0.998 1.000 0.455 0.552 0.607 0.562 . 3.270 3.270 0.587 1.016 0.585 0.001 0.148 0.462 887 . . . . PTGS1 150 0 113 34 0.231292517006803 TRUE TRUE +ENSG00000148346.12 . BCM GRCh38.p13 chr9 128152219 128152219 + A A T Missense_Mutation SNP ENST00000277480.7 exon5 c.A512T p.N171I exonic ENSG00000148346.12 . nonsynonymous SNV ENSG00000148346.12:ENST00000277480.7:exon5:c.A512T:p.N171I 9q34.11 C3L-00448 . . . . . . . . . 3.20 T T P P N N M T D 0.389 T T T 0.073 0.545 0.206 0.035 T T T T D T 0.919 10.640 0.974 N N -0.470 1.235 -0.638 0.990 1.000 0.646 0.574 0.645 0.613 . 4.050 0.375 -0.204 -0.099 -0.053 0.000 0.023 0.730 405 Lipocalin/cytosolic_fatty-acid_binding_domain . . . LCN2 138 0 104 48 0.315789473684211 TRUE TRUE +ENSG00000165733.8 . BCM GRCh38.p13 chr10 42820676 42820676 + G G A Missense_Mutation SNP ENST00000374518.6 exon17 c.G2938A p.A980T exonic ENSG00000165733.8 . nonsynonymous SNV ENSG00000165733.8:ENST00000374518.6:exon17:c.G2938A:p.A980T 10q11.21 C3L-00448 . . . . . . . . . 13.20 D D D D D D M T D 0.752 T T D 0.435 0.767 0.521 0.436 T T T T D D 4.085 27.600 0.999 D D 0.808 8.948 0.758 9.002 0.997 0.707 0.725 0.725 0.714 . 4.970 4.970 7.701 1.176 0.618 1.000 1.000 0.997 867 Ribosome_biogenesis_protein_BMS1/TSR1,_C-terminal . . . BMS1 152 0 121 50 0.292397660818713 NA TRUE +ENSG00000099204.20 . BCM GRCh38.p13 chr10 114447925 114447925 + T T A Missense_Mutation SNP ENST00000277895.9 exon15 c.A1690T p.I564F exonic ENSG00000099204.20 . nonsynonymous SNV ENSG00000099204.20:ENST00000277895.9:exon15:c.A1690T:p.I564F 10q25.3 C3L-00448 3.296e-05 0 0.0003 0 0 1.499e-05 0 0 rs780288120 9.20 T T D D D D M T N 0.804 T T T 0.171 0.205 0.363 0.949 T T T T D D 2.704 22.800 0.980 D D 0.525 5.240 0.596 6.175 0.998 0.706 0.659 0.710 0.714 . 5.830 5.830 7.991 1.138 0.665 1.000 1.000 0.998 911 Putative_adherens-junction_anchoring_domain . . . ABLIM1 193 0 107 74 0.408839779005525 TRUE NA +ENSG00000198873.12 . BCM GRCh38.p13 chr10 119431510 119431510 + G G A Missense_Mutation SNP ENST00000392870.3 exon8 c.G721A p.V241I exonic ENSG00000198873.12 . nonsynonymous SNV ENSG00000198873.12:ENST00000392870.3:exon8:c.G721A:p.V241I 10q26.11 C3L-00448 . . . . . . . . . 6.20 T T P B D D N T N 0.574 T T T 0.311 0.456 0.614 1.721 T T T T D D 2.909 23.200 0.996 D D 0.095 2.868 0.144 2.921 1.000 0.707 0.725 0.645 0.714 . 5.560 4.650 9.961 1.176 0.676 1.000 1.000 0.996 957 Protein_kinase_domain . . . GRK5 52 0 35 21 0.375 TRUE TRUE +ENSG00000110497.14 . BCM GRCh38.p13 chr11 46434946 46434946 + G G C Missense_Mutation SNP ENST00000458649.6 exon13 c.C2724G p.I908M exonic ENSG00000110497.14 . nonsynonymous SNV ENSG00000110497.14:ENST00000458649.6:exon13:c.C2724G:p.I908M 11p11.2 C3L-00448 8.538e-06 0 0 0.0001 0 0 0 0 rs778054395 10.20 D D D D D D L T N 0.775 T T T 0.193 0.278 0.509 1.457 D T T T D D 3.064 23.500 0.997 D N 0.368 4.149 0.330 3.895 0.829 0.719 0.723 0.725 0.714 . 5.700 2.850 1.548 1.176 0.676 1.000 1.000 0.999 0 . . . . AMBRA1 142 0 80 33 0.292035398230089 TRUE NA +ENSG00000110079.18 . BCM GRCh38.p13 chr11 60297290 60297290 + G G A Missense_Mutation SNP ENST00000337908.5 exon3 c.G295A p.V99M exonic ENSG00000110079.18 . nonsynonymous SNV ENSG00000110079.18:ENST00000337908.5:exon3:c.G295A:p.V99M 11q12.2 C3L-00448 0.0001 0 0.0011 0 0 1.499e-05 0 0 rs377643559 2.20 T T D B U N M T N 0.342 T T T 0.054 . 0.061 0.230 T T T T T T 0.633 7.831 0.972 N N -0.473 1.230 -0.716 0.876 0.000 0.549 0.574 0.574 0.616 . 3.910 -0.628 0.156 -0.177 0.509 0.000 0.000 0.008 804 . . . ID=COSV59700431;OCCURENCE=2(breast),1(large_intestine),1(lung) MS4A4A 197 0 113 44 0.280254777070064 TRUE TRUE +ENSG00000170953.3 . BCM GRCh38.p13 chr11 124542897 124542897 + G G T Missense_Mutation SNP ENST00000306842.2 exon1 c.C758A p.S253Y exonic ENSG00000170953.3 . nonsynonymous SNV ENSG00000170953.3:ENST00000306842.2:exon1:c.C758A:p.S253Y 11q24.2 C3L-00448 . . . . . . . . . 11.20 D D D D D D M T D 0.617 T T T 0.165 0.494 0.624 0.411 T T T T D T 3.149 23.700 0.994 D D 0.778 8.357 0.644 6.826 0.389 0.487 0.574 0.574 0.564 . 3.890 3.890 2.578 1.176 0.676 0.098 1.000 0.997 626 GPCR,_rhodopsin-like,_7TM . . . OR8B12 137 0 124 32 0.205128205128205 TRUE TRUE +ENSG00000111602.12 . BCM GRCh38.p13 chr12 56421373 56421373 + T T A Missense_Mutation SNP ENST00000553532.6 exon23 c.A2846T p.K949I exonic ENSG00000111602.12 . nonsynonymous SNV ENSG00000111602.12:ENST00000553532.6:exon23:c.A2846T:p.K949I 12q13.3 C3L-00448 . . . . . . . . . 5.20 D T P P N N M T D 0.423 T T T 0.073 0.538 0.356 0.462 T T T T D T 3.270 24.000 0.993 D N -0.038 2.379 -0.057 2.173 0.002 0.745 0.725 0.732 0.714 . 4.990 0.195 0.772 0.197 0.665 0.994 0.174 0.938 139 Timeless_C-terminal . . . TIMELESS 56 0 27 23 0.46 TRUE TRUE +ENSG00000070961.15 . BCM GRCh38.p13 chr12 89630573 89630573 + A A G Missense_Mutation SNP ENST00000428670.7 exon6 c.T860C p.I287T exonic ENSG00000070961.15 . nonsynonymous SNV ENSG00000070961.15:ENST00000428670.7:exon6:c.T860C:p.I287T 12q21.33 C3L-00448 . . . . . . . . . 20.20 D D D D D D M D D 0.865 D D D 0.944 0.741 0.988 2.676 D D D D D D 4.052 27.400 0.999 D D 0.806 8.892 0.782 9.611 1.000 0.732 0.744 0.710 0.728 . 5.420 5.420 9.325 1.312 0.756 1.000 1.000 1.000 917 . . . . ATP2B1 115 0 49 44 0.473118279569892 TRUE TRUE +ENSG00000089154.11 . BCM GRCh38.p13 chr12 120155422 120155422 + G G C Nonsense_Mutation SNP ENST00000300648.7 exon30 c.C3449G p.S1150X exonic ENSG00000089154.11 . stopgain ENSG00000089154.11:ENST00000300648.7:exon30:c.C3449G:p.S1150X 12q24.23 C3L-00448 . . . . . . . . . 4.6 . . . . N A . . . 0.834 . . . . . . . . . D D . . 6.317 35 0.993 D N 0.617 6.097 0.356 4.059 0.303 0.707 0.702 0.702 0.714 . 5.560 2.490 2.442 1.176 0.676 0.995 0.385 0.205 439 . . . . GCN1 105 0 86 27 0.238938053097345 TRUE TRUE +ENSG00000185950.9 . BCM GRCh38.p13 chr13 109782911 109782911 + G G A Missense_Mutation SNP ENST00000375856.5 exon1 c.C3143T p.S1048L exonic ENSG00000185950.9 . nonsynonymous SNV ENSG00000185950.9:ENST00000375856.5:exon1:c.C3143T:p.S1048L 13q34 C3L-00448 . . . . . . . . . 2.20 T T B B U N N T N 0.034 T T D 0.025 0.237 0.310 . T T T T T T 0.512 6.633 0.959 D N -1.163 0.254 -1.215 0.271 1.000 0.581 0.574 0.576 0.563 . 3.300 0.380 0.659 0.107 -0.233 0.001 0.001 0.005 968 . . . ID=COSV65477353;OCCURENCE=1(urinary_tract),2(skin) IRS2 111 0 152 77 0.336244541484716 TRUE TRUE +ENSG00000100916.14 . BCM GRCh38.p13 chr14 35863884 35863884 + G G A Missense_Mutation SNP ENST00000216807.12 exon6 c.G553A p.E185K exonic ENSG00000100916.14 . nonsynonymous SNV ENSG00000100916.14:ENST00000216807.12:exon6:c.G553A:p.E185K 14q13.2 C3L-00448 . . . . . . . . . 8.19 T T B B D D L . N 0.690 T T T 0.146 0.475 0.377 0.736 D T D T D D 3.016 23.400 0.989 D D 0.363 4.120 0.519 5.340 1.000 0.732 0.709 0.710 0.728 . 5.650 5.650 9.203 1.176 0.676 1.000 1.000 0.999 773 . . . . BRMS1L 117 0 56 36 0.391304347826087 TRUE TRUE +ENSG00000126822.17 . BCM GRCh38.p13 chr14 64731782 64731788 + CAGCAAG CAGCAAG - Frame_Shift_Del DEL ENST00000247226.13 exon9 c.1101_1107del p.K369Sfs*24 exonic ENSG00000126822.17 . frameshift deletion ENSG00000126822.17:ENST00000247226.13:exon9:c.1101_1107del:p.K369Sfs*24 14q23.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHG3 294 0 181 54 0.229787234042553 TRUE TRUE +ENSG00000169118.18 . BCM GRCh38.p13 chr15 64216605 64216605 + C C A Missense_Mutation SNP ENST00000303052.13 exon5 c.G401T p.R134L exonic ENSG00000169118.18 . nonsynonymous SNV ENSG00000169118.18:ENST00000303052.13:exon5:c.G401T:p.R134L 15q22.31 C3L-00448 . . . . . . . . . 18.20 D D D D D D H T D 0.871 D D D 0.659 0.779 0.756 1.487 D T D D D D 4.217 28.800 0.999 D D 0.922 11.641 0.864 12.311 1.000 0.706 0.654 0.710 0.613 . 5.270 5.270 7.905 1.026 0.599 1.000 1.000 0.999 650 Protein_kinase_domain . . . CSNK1G1 111 2 79 35 0.307017543859649 TRUE TRUE +ENSG00000140350.15 . BCM GRCh38.p13 chr15 68820745 68820745 + T T C Missense_Mutation SNP ENST00000465139.6 exon1 c.A7G p.M3V exonic ENSG00000140350.15 . nonsynonymous SNV ENSG00000140350.15:ENST00000465139.6:exon1:c.A7G:p.M3V 15q23 C3L-00448 . . . . . . . . . 8.20 D D P B D D H T N 0.539 T T T 0.248 0.622 0.543 1.343 T D T T D T 3.808 25.900 0.989 D N 0.337 3.977 0.263 3.507 1.000 0.442 0.522 0.522 0.562 . 4.340 3.170 2.838 1.044 -0.215 0.996 1.000 0.821 950 . . . . ANP32A 187 0 128 48 0.272727272727273 TRUE TRUE +ENSG00000150394.14 . BCM GRCh38.p13 chr16 62021232 62021232 + G G A Missense_Mutation SNP ENST00000577390.6 exon2 c.C172T p.R58C exonic ENSG00000150394.14 . nonsynonymous SNV ENSG00000150394.14:ENST00000577390.6:exon2:c.C172T:p.R58C 16q21 C3L-00448 . . . . . . . . . 16.20 D D D D D D M T D 0.936 T T D 0.507 0.761 0.617 1.639 T D D D D D 4.428 31 0.999 D D 0.945 12.262 0.957 16.410 1.000 0.554 0.574 0.602 0.564 . 6.170 6.170 9.491 1.176 0.676 1.000 0.999 0.998 872 . . . . CDH8 252 0 138 46 0.25 TRUE TRUE +ENSG00000159720.12 . BCM GRCh38.p13 chr16 67438649 67438649 + A A C Missense_Mutation SNP ENST00000290949.8 exon8 c.T935G p.F312C exonic ENSG00000159720.12 . nonsynonymous SNV ENSG00000159720.12:ENST00000290949.8:exon8:c.T935G:p.F312C 16q22.1 C3L-00448 . . . . . . . . . 15.20 D D D D D D M T D 0.943 T T D 0.617 0.534 0.380 2.553 D T D D D T 4.468 32 0.959 D D 0.886 10.705 0.823 10.846 1.000 0.707 0.702 0.702 0.714 . 5.110 5.110 9.318 1.312 0.756 1.000 1.000 1.000 20 . . . . ATP6V0D1 206 0 133 44 0.248587570621469 TRUE NA +ENSG00000135709.12 . BCM GRCh38.p13 chr16 85081322 85081322 + C C - Nonsense_Mutation SNP ENST00000566428.5 exon9 c.910delC p.L304* exonic ENSG00000135709.12 . stopgain ENSG00000135709.12:ENST00000566428.5:exon9:c.910delC:p.L304* 16q24.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA0513 231 0 138 55 0.284974093264249 TRUE TRUE +ENSG00000225614.4 . BCM GRCh38.p13 chr16 88436601 88436601 + C C A Missense_Mutation SNP ENST00000565624.3 exon3 c.C9131A p.T3044K exonic ENSG00000225614.4 . nonsynonymous SNV ENSG00000225614.4:ENST00000565624.3:exon3:c.C9131A:p.T3044K 16q24.2 C3L-00448 . . . . . . . . . 1.16 T T . . . N . T N 0.126 T T D 0.202 0.446 0.048 . T T T T T T -0.054 1.034 0.560 N N -1.065 0.338 -1.050 0.430 0.185 0.646 0.588 0.578 0.700 . 4.980 1.170 2.426 -0.517 -0.189 0.033 0.000 0.000 . . . . . ZNF469 142 0 94 45 0.323741007194245 TRUE TRUE +ENSG00000171634.18 . BCM GRCh38.p13 chr17 67945539 67945539 + - NA CAGCCC In_Frame_Ins INS ENST00000321892.8 exon23 c.7209_7210insCAGCCC p.Q2408_T2409insPQ exonic ENSG00000171634.18 . nonframeshift insertion ENSG00000171634.18:ENST00000321892.8:exon23:c.7209_7210insCAGCCC:p.Q2408_T2409insPQ 17q24.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BPTF NA NA NA NA NA NA NA +ENSG00000173821.19 . BCM GRCh38.p13 chr17 80373049 80373049 + C C G Missense_Mutation SNP ENST00000508628.6 exon50 c.C12973G p.R4325G exonic ENSG00000173821.19 . nonsynonymous SNV ENSG00000173821.19:ENST00000508628.6:exon50:c.C12973G:p.R4325G 17q25.3 C3L-00448 . . . . . . . . . 7.17 D D . . D N . T D 0.683 T T D 0.337 . 0.331 0.696 T T T T D T 3.175 23.800 0.995 D N 0.025 2.600 -0.103 2.038 0.000 0.707 0.702 0.725 0.714 . 5.500 0.924 1.865 -0.344 -0.224 1.000 0.215 0.374 867 . . . . RNF213 220 0 182 61 0.251028806584362 TRUE TRUE +ENSG00000161298.18 . BCM GRCh38.p13 chr19 36626777 36626777 + A A - Frame_Shift_Del DEL ENST00000292928.7 exon5 c.880delA p.K294Nfs*54 exonic ENSG00000161298.18 . frameshift deletion ENSG00000161298.18:ENST00000292928.7:exon5:c.880delA:p.K294Nfs*54 19q13.12 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF382 214 0 112 46 0.291139240506329 TRUE TRUE +ENSG00000104808.8 . BCM GRCh38.p13 chr19 48942544 48942544 + G G A Missense_Mutation SNP ENST00000221403.7 exon5 c.G724A p.G242S exonic ENSG00000104808.8 . nonsynonymous SNV ENSG00000104808.8:ENST00000221403.7:exon5:c.G724A:p.G242S 19q13.33 C3L-00448 8.326e-06 0 0 0 0 1.517e-05 0 0 rs760489280 15.20 D D D D D D H T D 0.907 D T D 0.582 0.865 0.511 0.504 T T D D D T 3.529 24.800 0.998 D D 0.498 5.021 0.272 3.558 0.976 0.615 0.588 0.659 0.613 . 4.670 3.630 8.103 1.077 0.614 1.000 0.838 0.117 753 . . . . DHDH 70 0 58 12 0.171428571428571 TRUE NA +ENSG00000186970.4 . BCM GRCh38.p13 chr21 30440515 30440515 + C C A Missense_Mutation SNP ENST00000334067.4 exon1 c.C188A p.T63K exonic ENSG00000186970.4 . nonsynonymous SNV ENSG00000186970.4:ENST00000334067.4:exon1:c.C188A:p.T63K 21q22.11 C3L-00448 . . . . . . . . . 2.20 T T B B N N M T D 0.247 T T T 0.039 0.568 0.040 0.010 T T T T T T -0.784 0.028 0.417 N N -1.294 0.168 -1.408 0.147 0.000 0.487 0.574 0.547 0.564 . 4.580 -3.320 -1.173 -2.248 -0.965 0.000 0.000 0.002 247 . . . ID=COSV100481653;OCCURENCE=1(upper_aerodigestive_tract) KRTAP15-1 106 0 78 40 0.338983050847458 TRUE NA +ENSG00000180772.7 . BCM GRCh38.p13 chrX 116172636 116172636 + T T - Frame_Shift_Del DEL ENST00000371906.5 exon3 c.356delT p.F120Lfs*7 exonic ENSG00000180772.7 . frameshift deletion ENSG00000180772.7:ENST00000371906.5:exon3:c.356delT:p.F120Lfs*7 Xq23 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGTR2 180 0 51 102 0.666666666666667 TRUE TRUE +ENSG00000101986.12 . BCM GRCh38.p13 chrX 153743025 153743025 + G G A Missense_Mutation SNP ENST00000218104.6 exon8 c.G1819A p.G607S exonic ENSG00000101986.12 . nonsynonymous SNV ENSG00000101986.12:ENST00000218104.6:exon8:c.G1819A:p.G607S Xq28 C3L-00448 . . . . . . . . . 18.19 D D D D D D M D D 0.796 D D D 0.911 0.741 0.998 1.478 T D D D D D 3.585 25.000 0.999 D . . . . . 1.000 . . . . . 5.460 5.460 10.003 1.175 0.676 1.000 0.978 0.696 56 ABC_transporter-like;AAA+_ATPase_domain;ABC_transporter,_conserved_site . . . ABCD1 177 0 67 121 0.643617021276596 NA TRUE +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32525448 32525463 + GATCCTTTTCTTTTAG GATCCTTTTCTTTTAG - Splice_Site DEL NA NA NA NA splicing ENSG00000115760.14 . . . 2p22.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BIRC6 210 0 176 66 0.272727272727273 NA TRUE +ENSG00000082293.13 . BCM GRCh38.p13 chr6 69900339 69900342 + GTAA GTAA - Splice_Site DEL NA NA NA NA splicing ENSG00000082293.13 . . . 6q13 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL19A1 89 0 26 9 0.257142857142857 TRUE TRUE +ENSG00000215018.10 . BCM GRCh38.p13 chr7 7443584 7443584 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000215018.10 ENST00000399429.8:exon20:c.1650+1G>A . . 7p21.3 C3L-00448 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.035 33 0.994 D . 1.018 14.504 0.852 11.843 0.997 0.058 0.063 0.060 0.058 0.982 4.930 4.930 1.914 1.026 0.599 1.000 0.994 0.938 824 . . . . COL28A1 105 0 77 63 0.45 TRUE TRUE +ENSG00000157933.10 . BCM GRCh38.p13 chr1 2306663 2306663 + G G T Silent SNP ENST00000378536.5 exon7 c.G2085T p.R695R exonic ENSG00000157933.10 . synonymous SNV ENSG00000157933.10:ENST00000378536.5:exon7:c.G2085T:p.R695R 1p36.32 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SKI 176 0 131 44 0.251428571428571 TRUE TRUE +ENSG00000137962.13 . BCM GRCh38.p13 chr1 94185429 94185429 + G G T Silent SNP ENST00000260526.11 exon17 c.C1833A p.L611L exonic ENSG00000137962.13 . synonymous SNV ENSG00000137962.13:ENST00000260526.11:exon17:c.C1833A:p.L611L 1p22.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP29 113 0 80 38 0.322033898305085 TRUE TRUE +ENSG00000117479.15 . BCM GRCh38.p13 chr1 169485692 169485692 + G G A Silent SNP ENST00000236137.10 exon1 c.C75T p.V25V exonic ENSG00000117479.15 . synonymous SNV ENSG00000117479.15:ENST00000236137.10:exon1:c.C75T:p.V25V 1q24.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC19A2 378 0 199 79 0.284172661870504 TRUE TRUE +ENSG00000203737.5 . BCM GRCh38.p13 chr1 174448268 174448268 + C C T Silent SNP ENST00000367685.5 exon1 c.C157T p.L53L exonic ENSG00000203737.5 . synonymous SNV ENSG00000203737.5:ENST00000367685.5:exon1:c.C157T:p.L53L 1q25.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR52 200 0 117 47 0.286585365853659 TRUE TRUE +ENSG00000081479.15 . BCM GRCh38.p13 chr2 169237237 169237237 + T T C Silent SNP ENST00000649046.1 exon28 c.A4557G p.V1519V exonic ENSG00000081479.15 . synonymous SNV ENSG00000081479.15:ENST00000649046.1:exon28:c.A4557G:p.V1519V 2q31.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP2 182 0 107 107 0.5 TRUE TRUE +ENSG00000233276.6 . BCM GRCh38.p13 chr3 49357437 49357437 + A A G Unknown SNP NA NA NA NA exonic ENSG00000233276.6 . unknown UNKNOWN 3p21.31 C3L-00448 . . . . . . . . . 13.19 D D D P D D M T D 0.822 T T . 0.460 0.814 0.760 1.603 T T D D D D 4.217 28.800 0.998 D D 0.789 8.576 0.738 8.531 1.000 0.733 0.522 0.601 0.639 . 5.100 5.100 9.294 1.293 0.751 1.000 0.998 0.995 1 . . . . GPX1 127 0 40 35 0.466666666666667 NA TRUE +ENSG00000187492.9 . BCM GRCh38.p13 chr3 49794657 49794657 + C C T Silent SNP ENST00000412678.7 exon10 c.G1230A p.Q410Q exonic ENSG00000187492.9 . synonymous SNV ENSG00000187492.9:ENST00000412678.7:exon10:c.G1230A:p.Q410Q 3p21.31 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDHR4 91 0 33 24 0.421052631578947 TRUE TRUE +ENSG00000112273.7 . BCM GRCh38.p13 chr6 22569803 22569803 + C C T Silent SNP ENST00000510882.4 exon1 c.C228T p.S76S exonic ENSG00000112273.7 . synonymous SNV ENSG00000112273.7:ENST00000510882.4:exon1:c.C228T:p.S76S 6p22.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDGFL1 290 0 204 72 0.260869565217391 TRUE TRUE +ENSG00000106258.15 . BCM GRCh38.p13 chr7 99676190 99676190 + A A G Silent SNP ENST00000222982.8 exon2 c.T90C p.H30H exonic ENSG00000106258.15 . synonymous SNV ENSG00000106258.15:ENST00000222982.8:exon2:c.T90C:p.H30H 7q22.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP3A5 185 0 180 56 0.23728813559322 TRUE TRUE +ENSG00000136574.17 . BCM GRCh38.p13 chr8 11708717 11708717 + C C T Silent SNP ENST00000335135.8 exon2 c.C405T p.G135G exonic ENSG00000136574.17 . synonymous SNV ENSG00000136574.17:ENST00000335135.8:exon2:c.C405T:p.G135G 8p23.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GATA4 10 0 23 3 0.115384615384615 TRUE NA +ENSG00000148346.12 . BCM GRCh38.p13 chr9 128152199 128152199 + G G C Silent SNP ENST00000277480.7 exon5 c.G492C p.L164L exonic ENSG00000148346.12 . synonymous SNV ENSG00000148346.12:ENST00000277480.7:exon5:c.G492C:p.L164L 9q34.11 C3L-00448 8.26e-06 0 0 0 0 1.502e-05 0 0 rs763885267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LCN2 115 0 91 36 0.283464566929134 TRUE NA +ENSG00000099204.20 . BCM GRCh38.p13 chr10 114445320 114445320 + A A G Silent SNP ENST00000277895.9 exon16 c.T1819C p.L607L exonic ENSG00000099204.20 . synonymous SNV ENSG00000099204.20:ENST00000277895.9:exon16:c.T1819C:p.L607L 10q25.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABLIM1 152 0 94 48 0.338028169014085 TRUE TRUE +ENSG00000060138.13 . BCM GRCh38.p13 chr12 10719124 10719124 + A A T Silent SNP ENST00000228251.9 exon2 c.T282A p.T94T exonic ENSG00000060138.13 . synonymous SNV ENSG00000060138.13:ENST00000228251.9:exon2:c.T282A:p.T94T 12p13.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YBX3 155 0 96 74 0.435294117647059 TRUE TRUE +ENSG00000111249.14 . BCM GRCh38.p13 chr12 111320655 111320655 + G G A Silent SNP ENST00000261726.11 exon17 c.G2646A p.P882P exonic ENSG00000111249.14 . synonymous SNV ENSG00000111249.14:ENST00000261726.11:exon17:c.G2646A:p.P882P 12q24.12 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUX2 175 2 134 47 0.259668508287293 TRUE NA +ENSG00000165959.12 . BCM GRCh38.p13 chr14 95203726 95203726 + C C T Silent SNP ENST00000298912.9 exon9 c.G1623A p.K541K exonic ENSG00000165959.12 . synonymous SNV ENSG00000165959.12:ENST00000298912.9:exon9:c.G1623A:p.K541K 14q32.13 C3L-00448 8.254e-06 0 0 0 0 0 0 6.056e-05 rs751186038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLMN 167 0 139 44 0.240437158469945 TRUE NA +ENSG00000156414.19 . BCM GRCh38.p13 chr14 104026786 104026786 + C C T Silent SNP ENST00000409874.9 exon28 c.C3129T p.G1043G exonic ENSG00000156414.19 . synonymous SNV ENSG00000156414.19:ENST00000409874.9:exon28:c.C3129T:p.G1043G 14q32.33 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDRD9 292 0 153 57 0.271428571428571 TRUE TRUE +ENSG00000103485.19 . BCM GRCh38.p13 chr16 29695133 29695133 + C C G Silent SNP ENST00000395384.9 exon2 c.C483G p.R161R exonic ENSG00000103485.19 . synonymous SNV ENSG00000103485.19:ENST00000395384.9:exon2:c.C483G:p.R161R 16p11.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . QPRT 119 0 97 18 0.156521739130435 TRUE TRUE +ENSG00000065427.14 . BCM GRCh38.p13 chr16 75631453 75631453 + C C G Silent SNP ENST00000302445.7 exon9 c.G1215C p.G405G exonic ENSG00000065427.14 . synonymous SNV ENSG00000065427.14:ENST00000302445.7:exon9:c.G1215C:p.G405G 16q23.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KARS1 439 0 350 83 0.191685912240185 TRUE TRUE +ENSG00000187595.16 . BCM GRCh38.p13 chr17 42062844 42062844 + A A C Silent SNP ENST00000436535.4 exon2 c.T213G p.L71L exonic ENSG00000187595.16 . synonymous SNV ENSG00000187595.16:ENST00000436535.4:exon2:c.T213G:p.L71L 17q21.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF385C 30 1 16 10 0.384615384615385 TRUE NA +ENSG00000168234.13 . BCM GRCh38.p13 chr18 24114565 24114565 + C C T Silent SNP ENST00000317571.8 exon7 c.C996T p.N332N exonic ENSG00000168234.13 . synonymous SNV ENSG00000168234.13:ENST00000317571.8:exon7:c.C996T:p.N332N 18q11.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC39C 126 0 83 31 0.271929824561404 TRUE TRUE +ENSG00000170604.5 . BCM GRCh38.p13 chr19 45885304 45885304 + G G A Silent SNP ENST00000302165.5 exon1 c.C471T p.S157S exonic ENSG00000170604.5 . synonymous SNV ENSG00000170604.5:ENST00000302165.5:exon1:c.C471T:p.S157S 19q13.32 C3L-00448 1.776e-05 0.0002 0 0 0 0 0 0 rs527767645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRF2BP1 144 0 88 30 0.254237288135593 TRUE NA +ENSG00000168135.4 . BCM GRCh38.p13 chr22 38427308 38427308 + G G A Silent SNP ENST00000303592.3 exon2 c.C825T p.G275G exonic ENSG00000168135.4 . synonymous SNV ENSG00000168135.4:ENST00000303592.3:exon2:c.C825T:p.G275G 22q13.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNJ4 184 0 117 41 0.259493670886076 TRUE TRUE +ENSG00000167077.13 . BCM GRCh38.p13 chr22 41729757 41729757 + C C A Silent SNP ENST00000401548.8 exon8 c.C957A p.A319A exonic ENSG00000167077.13 . synonymous SNV ENSG00000167077.13:ENST00000401548.8:exon8:c.C957A:p.A319A 22q13.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEI1 112 0 81 42 0.341463414634146 TRUE TRUE +ENSG00000146950.13 . BCM GRCh38.p13 chrX 9932397 9932397 + C C T Silent SNP ENST00000380913.8 exon6 c.C3114T p.G1038G exonic ENSG00000146950.13 . synonymous SNV ENSG00000146950.13:ENST00000380913.8:exon6:c.C3114T:p.G1038G Xp22.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHROOM2 78 0 25 47 0.652777777777778 TRUE TRUE +ENSG00000119782.14 . BCM GRCh38.p13 chr2 24054179 24054179 + G G A Intron SNP NA NA NA NA intronic ENSG00000119782.14 . . . 2p23.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FKBP1B 41 0 44 11 0.2 TRUE NA +ENSG00000160145.15 . BCM GRCh38.p13 chr3 124679633 124679633 + C C A Intron SNP NA NA NA NA intronic ENSG00000160145.15 . . . 3q21.2 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KALRN 112 0 81 18 0.181818181818182 TRUE NA +ENSG00000205981.8 . BCM GRCh38.p13 chr3 180984170 180984170 + - NA C 3'UTR SNP NA NA NA NA UTR3 ENSG00000205981.8 ENST00000382564.8:c.*469_*470insG . . 3q26.33 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJC19 NA NA NA NA NA NA NA +ENSG00000196735.13 . BCM GRCh38.p13 chr6 32643166 32643166 + T T - 3'UTR SNP NA NA NA NA UTR3 ENSG00000196735.13 ENST00000343139.11:c.*235delT . . 6p21.32 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLA-DQA1 103 0 68 31 0.313131313131313 TRUE NA +ENSG00000244295.2 . BCM GRCh38.p13 chr8 73982155 73982155 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000244295.2 . . . 8q21.11 C3L-00448 1.689e-05 0 0.0002 0 0 0 0 0 rs756785098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPS20P21 76 0 61 21 0.25609756097561 TRUE NA +ENSG00000108175.17 . BCM GRCh38.p13 chr10 79285506 79285506 + - NA TGTCC Intron INS NA NA NA NA intronic ENSG00000108175.17 . . . 10q22.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZMIZ1 NA NA NA NA NA NA NA +ENSG00000108175.17 . BCM GRCh38.p13 chr10 79285513 79285513 + T T G Intron SNP NA NA NA NA intronic ENSG00000108175.17 . . . 10q22.3 C3L-00448 . . . . . . . . . 0.10 . T . . . N . . . 0.107 T T . 0.173 . 0.043 . . T T T T T 0.801 9.402 0.730 N . -0.981 0.425 -1.235 0.255 1.000 0.235 0.213 0.072 0.074 0.087 3.110 -5.980 2.085 0.015 -0.144 0.020 0.010 0.003 904 . . . . ZMIZ1 151 0 119 13 0.0984848484848485 TRUE NA +ENSG00000227825.4 . BCM GRCh38.p13 chr12 98456646 98456646 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000227825.4 . . . 12q23.1 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC9A7P1 204 0 151 131 0.464539007092199 TRUE NA +ENSG00000140368.13 . BCM GRCh38.p13 chr15 77007911 77007911 + A A T Intron SNP NA NA NA NA intronic ENSG00000140368.13 . . . 15q24.3 C3L-00448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSTPIP1 88 0 63 17 0.2125 TRUE NA +ENSG00000175866.15 . BCM GRCh38.p13 chr17 81036889 81036889 + C C T Intron SNP NA NA NA NA intronic ENSG00000175866.15 . . . 17q25.3 C3L-00448 8.206e-05 0 0 0 . 0 0 0.0001 rs560242138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAIAP2 174 0 107 50 0.318471337579618 TRUE NA +ENSG00000198793.13 . BCM GRCh38.p13 chr1 11109317 11109317 + T T A Missense_Mutation SNP ENST00000361445.9 exon56 c.A7501T p.I2501F exonic ENSG00000198793.13 . nonsynonymous SNV ENSG00000198793.13:ENST00000361445.9:exon56:c.A7501T:p.I2501F 1p36.22 C3L-00561 . . . . . . . . . 16.20 D D D P D D M T D 0.841 T T D 0.584 0.391 0.927 3.010 D D D D D D 4.018 27.100 0.976 D D 0.788 8.553 0.776 9.460 1.000 0.707 0.725 0.725 0.714 . 5.820 5.820 7.449 1.138 0.609 1.000 1.000 0.997 475 Phosphatidylinositol_3-/4-kinase,_catalytic_domain . . ID=COSV63871874;OCCURENCE=1(liver),1(kidney) MTOR 122 0 96 28 0.225806451612903 TRUE TRUE +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39332982 39332982 + C C A Missense_Mutation SNP ENST00000372915.7 exon36 c.C6409A p.L2137M exonic ENSG00000127603.29 . nonsynonymous SNV ENSG00000127603.29:ENST00000372915.7:exon36:c.C6409A:p.L2137M 1p34.3 C3L-00561 . . . . . . . . . 2.17 D . B B N N . T N 0.347 T T D 0.054 0.457 0.457 . . T T T T T 0.576 7.280 0.480 N N -0.734 0.757 -0.786 0.777 0.967 0.672 0.702 0.576 0.742 . 4.500 2.500 0.525 -0.788 -0.326 0.003 0.000 0.013 564 . . . . MACF1 163 0 81 48 0.372093023255814 TRUE NA +ENSG00000189195.14 . BCM GRCh38.p13 chr1 92181621 92181621 + A A G Missense_Mutation SNP ENST00000637221.2 exon6 c.A2399G p.Y800C exonic ENSG00000189195.14 . nonsynonymous SNV ENSG00000189195.14:ENST00000637221.2:exon6:c.A2399G:p.Y800C 1p22.1 C3L-00561 . . . . . . . . . 6.13 . . . . D D . . . . T T T 0.202 0.411 0.183 . T T T T D D 2.992 23.400 0.998 D D 0.334 3.959 0.390 4.290 0.902 0.554 0.574 0.547 0.621 . 5.790 4.670 5.711 0.315 0.756 1.000 0.796 0.999 736 . . . . BTBD8 129 1 68 39 0.364485981308411 TRUE TRUE +ENSG00000125459.17 . BCM GRCh38.p13 chr1 155612863 155612863 + G G A Missense_Mutation SNP ENST00000245564.8 exon10 c.G986A p.C329Y exonic ENSG00000125459.17 . nonsynonymous SNV ENSG00000125459.17:ENST00000245564.8:exon10:c.G986A:p.C329Y 1q22 C3L-00561 . . . . . . . . . 10.20 D D D P D D N T N 0.591 T T D 0.256 0.582 0.675 0.878 T T T T D D 2.924 23.300 0.987 D D 0.125 2.987 0.067 2.604 0.001 0.707 0.702 0.725 0.711 . 2.910 2.910 3.567 0.187 0.482 1.000 0.675 0.745 79 DML1/Misato,_tubulin_domain . . . MSTO1 79 1 60 33 0.354838709677419 NA TRUE +ENSG00000143643.13 . BCM GRCh38.p13 chr1 230939492 230939492 + T T C Missense_Mutation SNP ENST00000366661.9 exon8 c.A794G p.Y265C exonic ENSG00000143643.13 . nonsynonymous SNV ENSG00000143643.13:ENST00000366661.9:exon8:c.A794G:p.Y265C 1q42.2 C3L-00561 8.28e-06 0 0 0 0.0002 0 0 0 rs768325278 17.20 D D D D D D M T D 0.840 D D D 0.645 0.438 0.870 2.216 T T D D D D 4.298 29.600 0.998 D D 0.833 9.459 0.768 9.239 1.000 0.651 0.709 0.659 0.684 . 5.140 5.140 7.697 1.138 0.609 1.000 1.000 0.996 850 Tetratricopeptide_repeat-containing_domain . . . TTC13 106 0 99 26 0.208 TRUE NA +ENSG00000084674.15 . BCM GRCh38.p13 chr2 21001739 21001739 + G G C Missense_Mutation SNP ENST00000233242.5 exon29 c.C13683G p.I4561M exonic ENSG00000084674.15 . nonsynonymous SNV ENSG00000084674.15:ENST00000233242.5:exon29:c.C13683G:p.I4561M 2p24.1 C3L-00561 . . . . . . . . . 5.15 D D . . N N . T N 0.191 T T D 0.033 0.419 0.498 0.045 T . T T D . 1.785 17.620 0.975 N D -0.175 1.949 -0.246 1.680 0.957 0.487 0.574 0.574 0.564 . 5.760 2.860 1.255 -0.135 -0.113 0.996 0.669 0.913 861 . . . . APOB 170 0 163 13 0.0738636363636364 TRUE TRUE +ENSG00000116044.16 . BCM GRCh38.p13 chr2 177234228 177234228 + A A G Missense_Mutation SNP ENST00000397062.8 exon2 c.T89C p.L30P exonic ENSG00000116044.16 . nonsynonymous SNV ENSG00000116044.16:ENST00000397062.8:exon2:c.T89C:p.L30P 2q31.2 C3L-00561 . . . . . . . . . 17.20 D D D D D D M T D 0.974 T T D 0.756 0.651 0.681 0.837 D D D D D D 4.151 28.200 0.997 D D 0.910 11.321 0.874 12.667 1.000 0.732 0.725 0.744 0.735 . 5.780 5.780 8.947 1.312 0.756 1.000 1.000 0.998 663 . . . ID=COSV101229406;OCCURENCE=1(upper_aerodigestive_tract) NFE2L2 88 0 117 5 0.040983606557377 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142176 10142176 + A A C Missense_Mutation SNP ENST00000256474.3 exon1 c.A329C p.H110P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.A329C:p.H110P 3p25.3 C3L-00561 . . . . . . . . . 14.20 D T D D N N L D D 0.643 D D D 0.701 0.649 1.000 1.264 D D D D D T 3.701 25.400 0.982 D N 0.315 3.860 0.348 4.007 1.000 0.442 0.522 0.522 0.373 . 5.170 4.000 2.154 0.178 0.582 1.000 0.997 0.981 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56542926;OCCURENCE=4(kidney) VHL 242 0 166 94 0.361538461538462 TRUE TRUE +ENSG00000231861.2 . BCM GRCh38.p13 chr3 98498468 98498468 + A A G Missense_Mutation SNP ENST00000427338.2 exon1 c.A788G p.N263S exonic ENSG00000231861.2 . nonsynonymous SNV ENSG00000231861.2:ENST00000427338.2:exon1:c.A788G:p.N263S 3q11.2 C3L-00561 . . . . . . . . . 0.19 T T B B N N N T N 0.112 T T T 0.021 0.345 0.253 0.008 T T T T T T 0.790 9.289 0.563 N . -1.426 0.106 -1.402 0.150 0.000 0.554 0.588 0.574 0.530 . 2.980 1.820 0.270 1.071 0.375 0.000 0.897 0.018 552 GPCR,_rhodopsin-like,_7TM . . . OR5K2 113 0 93 9 0.0882352941176471 TRUE TRUE +ENSG00000213949.10 . BCM GRCh38.p13 chr5 52918886 52918888 + ATT ATT - In_Frame_Del DEL ENST00000282588.7 exon16 c.2143_2145del p.I715del exonic ENSG00000213949.10 . nonframeshift deletion ENSG00000213949.10:ENST00000282588.7:exon16:c.2143_2145del:p.I715del 5q11.2 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA1 54 0 25 15 0.375 TRUE TRUE +ENSG00000120329.7 . BCM GRCh38.p13 chr5 141303039 141303053 + GCTCGAATCATAGTA GCTCGAATCATAGTA - In_Frame_Del DEL ENST00000239451.7 exon1 c.813_827del p.T272_A276del exonic ENSG00000120329.7 . nonframeshift deletion ENSG00000120329.7:ENST00000239451.7:exon1:c.813_827del:p.T272_A276del 5q31.3 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A2 111 0 162 10 0.0581395348837209 NA TRUE +ENSG00000124787.14 . BCM GRCh38.p13 chr6 4995252 4995252 + T T A Missense_Mutation SNP ENST00000380051.7 exon8 c.A918T p.L306F exonic ENSG00000124787.14 . nonsynonymous SNV ENSG00000124787.14:ENST00000380051.7:exon8:c.A918T:p.L306F 6p25.1 C3L-00561 . . . . . . . . . 3.20 T T P B N D L T N 0.300 T T T 0.072 0.673 0.220 0.518 T T T T T D 1.511 15.810 0.918 D N -0.712 0.793 -0.734 0.851 0.001 0.732 0.744 0.744 0.728 . 4.960 -1.290 0.076 -0.569 -0.120 0.977 0.233 0.089 952 . . . . RPP40 127 0 107 15 0.122950819672131 TRUE TRUE +ENSG00000153157.13 . BCM GRCh38.p13 chr6 10898101 10898101 + T T A Missense_Mutation SNP ENST00000283141.11 exon5 c.T427A p.F143I exonic ENSG00000153157.13 . nonsynonymous SNV ENSG00000153157.13:ENST00000283141.11:exon5:c.T427A:p.F143I 6p24.2 C3L-00561 . . . . . . . . . 7.20 D D P B N D M T D 0.580 T T T 0.135 0.460 0.581 0.525 T T T T D T 1.703 17.050 0.982 D N -0.178 1.940 -0.313 1.538 0.002 0.615 0.547 0.659 0.564 . 5.360 -0.197 0.712 -0.167 0.665 0.982 0.577 0.236 830 . . . . SYCP2L 129 0 125 31 0.198717948717949 TRUE TRUE +ENSG00000124721.18 . BCM GRCh38.p13 chr6 38875816 38875816 + G G C Missense_Mutation SNP ENST00000359357.7 exon51 c.G7195C p.V2399L exonic ENSG00000124721.18 . nonsynonymous SNV ENSG00000124721.18:ENST00000359357.7:exon51:c.G7195C:p.V2399L 6p21.2 C3L-00561 . . . . . . . . . 9.19 D . B B D D M T D 0.557 T T T 0.202 0.458 0.545 0.147 T T D T D T 3.920 26.500 0.996 D D 0.288 3.716 0.440 4.657 1.000 0.516 0.588 0.547 0.586 . 5.830 5.830 6.099 1.176 0.676 1.000 1.000 0.996 541 . . . . DNAH8 143 0 137 22 0.138364779874214 TRUE TRUE +ENSG00000069122.19 . BCM GRCh38.p13 chr6 46865063 46865063 + T T G Missense_Mutation SNP ENST00000283296.12 exon14 c.A1969C p.M657L exonic ENSG00000069122.19 . nonsynonymous SNV ENSG00000069122.19:ENST00000283296.12:exon14:c.A1969C:p.M657L 6p12.3 C3L-00561 . . . . . . . . . 3.19 D T B B N N . T N 0.327 T T T 0.082 0.364 0.093 0.203 T T T T D T 2.796 23.000 0.955 D N 0.015 2.565 0.162 3.003 0.009 0.732 0.574 0.547 0.728 . 5.910 4.740 2.498 1.138 0.665 0.989 0.999 0.980 709 . . . . ADGRF5 91 0 91 15 0.141509433962264 TRUE TRUE +ENSG00000137252.9 . BCM GRCh38.p13 chr6 55282240 55282240 + A A C Missense_Mutation SNP ENST00000615358.4 exon8 c.A1121C p.E374A exonic ENSG00000137252.9 . nonsynonymous SNV ENSG00000137252.9:ENST00000615358.4:exon8:c.A1121C:p.E374A 6p12.1 C3L-00561 . . . . . . . . . 9.20 T T P B D D N T D 0.795 T T D 0.309 0.614 0.632 0.632 T T D T D D 3.581 25.000 0.989 D D 0.122 2.976 0.305 3.749 0.998 0.487 0.574 0.489 0.542 . 5.510 5.510 8.542 1.312 0.756 1.000 1.000 0.999 806 . . . . HCRTR2 208 1 170 10 0.0555555555555556 TRUE NA +ENSG00000112246.10 . BCM GRCh38.p13 chr6 100391059 100391059 + T T C Missense_Mutation SNP ENST00000369208.8 exon12 c.A1603G p.S535G exonic ENSG00000112246.10 . nonsynonymous SNV ENSG00000112246.10:ENST00000369208.8:exon12:c.A1603G:p.S535G 6q16.3 C3L-00561 . . . . . . . . . 7.20 D T B B D D L T N 0.573 T T T 0.107 0.414 0.103 0.196 T T T T D D 3.257 24.000 0.995 D D 0.045 2.676 0.260 3.491 1.000 0.554 0.574 0.574 0.621 . 5.900 5.900 7.674 1.138 0.665 1.000 1.000 0.998 900 Single-minded,_C-terminal . . . SIM1 53 0 55 11 0.166666666666667 TRUE TRUE +ENSG00000197594.13 . BCM GRCh38.p13 chr6 131860422 131860422 + T T - Frame_Shift_Del DEL ENST00000647893.1 exon8 c.831delT p.N277Kfs*8 exonic ENSG00000197594.13 . frameshift deletion ENSG00000197594.13:ENST00000647893.1:exon8:c.831delT:p.N277Kfs*8 6q23.2 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENPP1 260 0 74 10 0.119047619047619 TRUE TRUE +ENSG00000164692.18 . BCM GRCh38.p13 chr7 94419528 94419528 + C C T Missense_Mutation SNP ENST00000297268.11 exon34 c.C2056T p.P686S exonic ENSG00000164692.18 . nonsynonymous SNV ENSG00000164692.18:ENST00000297268.11:exon34:c.C2056T:p.P686S 7q21.3 C3L-00561 . . . . . . . . . 15.20 D T B B D D L D D 0.276 D D D 0.551 0.456 0.865 0.213 T D D D D D 2.440 22.200 0.992 D D 0.140 3.048 0.300 3.718 1.000 0.707 0.590 0.725 0.684 . 5.520 5.520 3.928 1.026 0.599 0.997 0.998 0.998 694 . . . . COL1A2 299 0 334 119 0.262693156732892 TRUE TRUE +ENSG00000105971.15 . BCM GRCh38.p13 chr7 116506073 116506073 + C C G Missense_Mutation SNP ENST00000222693.5 exon3 c.C441G p.S147R exonic ENSG00000105971.15 . nonsynonymous SNV ENSG00000105971.15:ENST00000222693.5:exon3:c.C441G:p.S147R 7q31.2 C3L-00561 . . . . . . . . . 13.19 D D D D D D . D D 0.939 D D D 0.784 0.899 0.918 1.237 T D T T D T 1.678 16.880 0.997 N N -0.329 1.544 -0.518 1.173 1.000 0.722 0.634 0.602 0.735 . 5.870 0.876 -0.566 -0.668 -0.173 0.000 0.762 0.820 546 . . . . CAV2 130 0 220 23 0.0946502057613169 TRUE TRUE +ENSG00000164675.11 . BCM GRCh38.p13 chr7 123496721 123496721 + A A - Frame_Shift_Del DEL ENST00000324698.11 exon7 c.1209delT p.F403Lfs*8 exonic ENSG00000164675.11 . frameshift deletion ENSG00000164675.11:ENST00000324698.11:exon7:c.1209delT:p.F403Lfs*8 7q31.32 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IQUB 74 1 41 13 0.240740740740741 TRUE TRUE +ENSG00000106018.14 . BCM GRCh38.p13 chr7 159036797 159036797 + G G A Missense_Mutation SNP ENST00000262178.7 exon7 c.C703T p.L235F exonic ENSG00000106018.14 . nonsynonymous SNV ENSG00000106018.14:ENST00000262178.7:exon7:c.C703T:p.L235F 7q36.3 C3L-00561 0.0002 0.0024 8.79e-05 0 0 0 0 0 rs149197032 0.20 T T B B N N N T N 0.243 T T T 0.078 . 0.014 0.200 T T T T T T -0.163 0.614 0.068 N N -1.411 0.112 -1.301 0.209 1.000 0.487 0.574 0.496 0.613 . 4.560 -2.070 2.119 -0.595 -1.487 1.000 0.000 0.000 982 GPCR,_family_2-like . . . VIPR2 112 0 92 32 0.258064516129032 TRUE NA +ENSG00000164830.18 . BCM GRCh38.p13 chr8 106684331 106684331 + C C A Nonsense_Mutation SNP ENST00000442977.6 exon5 c.C500A p.S167X exonic ENSG00000164830.18 . stopgain ENSG00000164830.18:ENST00000442977.6:exon5:c.C500A:p.S167X 8q23.1 C3L-00561 . . . . . . . . . 6.7 . . . . D D . . . 0.955 . . . . . . . . . D D D . 7.401 38 0.995 D N 0.875 10.417 0.754 8.895 0.999 0.719 0.723 0.609 0.714 . 5.550 4.670 4.756 1.026 0.599 1.000 0.994 0.998 844 . . . . OXR1 135 0 202 21 0.0941704035874439 TRUE TRUE +ENSG00000167701.14 . BCM GRCh38.p13 chr8 144506242 144506242 + C C T Missense_Mutation SNP ENST00000394955.3 exon8 c.C967T p.R323C exonic ENSG00000167701.14 . nonsynonymous SNV ENSG00000167701.14:ENST00000394955.3:exon8:c.C967T:p.R323C 8q24.3 C3L-00561 1.133e-05 0 0.0001 0 0 0 0 0 rs141381983 20.20 D D D D D D H D D 0.922 D D D 0.934 . 0.947 0.450 D D D D D D 4.197 28.600 0.999 D D 0.629 6.236 0.457 4.786 1.000 0.581 0.551 0.604 0.605 . 4.180 4.180 1.401 0.947 0.594 0.974 0.947 0.990 900 Aminotransferase,_class_I/classII . . ID=COSV99477466;OCCURENCE=1(stomach) GPT 133 0 171 10 0.0552486187845304 TRUE NA +ENSG00000130720.13 . BCM GRCh38.p13 chr9 130911873 130911873 + C C T Missense_Mutation SNP ENST00000372338.9 exon5 c.G865A p.E289K exonic ENSG00000130720.13 . nonsynonymous SNV ENSG00000130720.13:ENST00000372338.9:exon5:c.G865A:p.E289K 9q34.12 C3L-00561 6.54e-05 0 0 0.0008 0 0 0 0.0001 rs568093970 6.20 D T B B D D N T N 0.730 T T D 0.365 0.589 0.724 0.235 T T T T T D 2.703 22.800 0.999 D N -0.134 2.068 0.031 2.468 1.000 0.646 0.547 0.645 0.563 . 5.060 5.060 2.636 0.947 0.549 1.000 0.507 0.821 649 Fibrinogen,_alpha/beta/gamma_chain,_C-terminal_globular_domain . . . FIBCD1 173 0 126 17 0.118881118881119 TRUE NA +ENSG00000156574.10 . BCM GRCh38.p13 chr10 70435470 70435470 + C C T Missense_Mutation SNP ENST00000287139.8 exon2 c.G707A p.R236H exonic ENSG00000156574.10 . nonsynonymous SNV ENSG00000156574.10:ENST00000287139.8:exon2:c.G707A:p.R236H 10q22.1 C3L-00561 8.243e-06 0 0 0 0 1.5e-05 0 0 rs751847569 8.20 D D P B D D M T N 0.199 T T D 0.117 0.475 0.607 0.993 T D T T D T 2.049 19.630 0.999 N N -0.122 2.106 -0.110 2.018 1.000 0.615 0.610 0.659 0.568 . 5.880 3.960 -0.063 1.026 0.599 0.000 0.822 0.940 480 Transforming_growth_factor-beta,_C-terminal . . . NODAL 231 0 153 59 0.278301886792453 TRUE NA +ENSG00000119913.6 . BCM GRCh38.p13 chr10 112286081 112286081 + C C A Missense_Mutation SNP ENST00000646139.2 exon4 c.C278A p.P93H exonic ENSG00000119913.6 . nonsynonymous SNV ENSG00000119913.6:ENST00000646139.2:exon4:c.C278A:p.P93H 10q25.2 C3L-00561 . . . . . . . . . 16.20 D D D D D D L D N 0.831 D D D 0.426 0.460 0.954 0.307 T T D D D D 3.816 25.900 0.996 D D 0.743 7.763 0.759 9.009 1.000 0.487 0.590 0.547 0.564 . 6.170 6.170 7.568 1.026 0.599 1.000 0.997 0.989 761 Zona_pellucida_domain . . . TECTB 103 0 128 8 0.0588235294117647 TRUE TRUE +ENSG00000187908.19 . BCM GRCh38.p13 chr10 122592493 122592493 + G G T Missense_Mutation SNP ENST00000368909.7 exon20 c.G2398T p.V800L exonic ENSG00000187908.19 . nonsynonymous SNV ENSG00000187908.19:ENST00000368909.7:exon20:c.G2398T:p.V800L 10q26.13 C3L-00561 . . . . . . . . . 4.19 T T D P . D L T N 0.353 T T D 0.316 0.691 0.636 0.051 T T T T T T 2.056 19.680 0.891 D N -0.071 2.269 -0.247 1.677 1.000 0.549 0.627 0.574 0.564 . 3.900 2.010 2.130 -0.224 0.504 0.993 0.000 0.004 800 SRCR_domain;SRCR-like_domain . . ID=COSV100352278;OCCURENCE=1(lung) DMBT1 529 0 518 167 0.243795620437956 NA TRUE +ENSG00000205029.1 . BCM GRCh38.p13 chr11 55838926 55838926 + A A G Missense_Mutation SNP ENST00000378396.1 exon1 c.A175G p.T59A exonic ENSG00000205029.1 . nonsynonymous SNV ENSG00000205029.1:ENST00000378396.1:exon1:c.A175G:p.T59A 11q12.1 C3L-00561 . . . . . . . . . 5.19 D D P B . N M T D 0.130 T T T 0.078 0.611 0.530 0.004 T T T T D T 1.488 15.660 0.990 N N 0.004 2.524 -0.061 2.161 0.000 0.487 0.574 0.574 0.564 . 4.050 4.050 -0.051 0.072 -0.172 0.000 0.001 0.001 159 GPCR,_rhodopsin-like,_7TM . . ID=COSV65722554;OCCURENCE=1(stomach) OR5D16 153 0 118 21 0.151079136690647 TRUE TRUE +ENSG00000149782.11 . BCM GRCh38.p13 chr11 64259104 64259104 + G G A Missense_Mutation SNP ENST00000540288.5 exon13 c.G1385A p.R462H exonic ENSG00000149782.11 . nonsynonymous SNV ENSG00000149782.11:ENST00000540288.5:exon13:c.G1385A:p.R462H 11q13.1 C3L-00561 . . . . . . . . . 11.20 T D D P D D M T D 0.563 T T D 0.406 . 0.800 1.871 T D T T D D 4.105 27.800 0.999 D N 0.601 5.936 0.566 5.820 1.000 0.707 0.654 0.702 0.714 . 4.580 4.580 4.328 1.176 0.676 0.996 0.885 0.906 658 Phosphatidylinositol-specific_phospholipase_C,_X_domain . . ID=COSV99657762;OCCURENCE=1(thyroid) PLCB3 94 0 86 5 0.0549450549450549 TRUE NA +ENSG00000173898.13 . BCM GRCh38.p13 chr11 66708265 66708265 + C C T Missense_Mutation SNP ENST00000533211.5 exon12 c.G1226A p.R409H exonic ENSG00000173898.13 . nonsynonymous SNV ENSG00000173898.13:ENST00000533211.5:exon12:c.G1226A:p.R409H 11q13.2 C3L-00561 1.841e-05 0.0001 0 0 0 1.669e-05 0 0 rs762283482 18.20 D D D D D D M T D 0.827 D D D 0.626 . 0.935 2.102 D D T D D D 3.837 26.000 1.000 D D 0.747 7.829 0.672 7.252 1.000 0.672 0.610 0.702 0.655 . 4.620 4.620 7.792 0.947 0.599 0.994 0.178 0.301 233 . . . . SPTBN2 55 0 40 4 0.0909090909090909 TRUE NA +ENSG00000137760.14 . BCM GRCh38.p13 chr11 107504713 107504713 + A A T Missense_Mutation SNP ENST00000428149.6 exon12 c.T1940A p.I647N exonic ENSG00000137760.14 . nonsynonymous SNV ENSG00000137760.14:ENST00000428149.6:exon12:c.T1940A:p.I647N 11q22.3 C3L-00561 . . . . . . . . . 11.20 D D D P N D M T D 0.673 T T D 0.395 0.754 0.517 0.042 T D T T D T 3.665 25.300 0.993 D D 0.522 5.209 0.432 4.595 0.998 0.707 0.654 0.609 0.714 . 5.090 5.090 8.991 1.312 0.756 0.991 0.385 0.507 712 . . . . ALKBH8 53 0 45 16 0.262295081967213 TRUE TRUE +ENSG00000166741.7 . BCM GRCh38.p13 chr11 114296626 114296626 + T T C Missense_Mutation SNP ENST00000535401.5 exon3 c.T70C p.Y24H exonic ENSG00000166741.7 . nonsynonymous SNV ENSG00000166741.7:ENST00000535401.5:exon3:c.T70C:p.Y24H 11q23.2 C3L-00561 . . . . . . . . . 8.20 D T D D N D M T D 0.521 T T T 0.213 0.796 0.168 0.035 T T T T D T 4.004 27.000 0.998 N D 0.447 4.648 0.387 4.268 1.000 0.487 0.574 0.574 0.562 . 5.360 4.230 2.820 1.138 0.609 0.983 1.000 0.969 780 . . . . NNMT 124 0 143 10 0.065359477124183 TRUE TRUE +ENSG00000196914.9 . BCM GRCh38.p13 chr11 120473071 120473071 + C C A Missense_Mutation SNP ENST00000397843.7 exon31 c.C2977A p.R993S exonic ENSG00000196914.9 . nonsynonymous SNV ENSG00000196914.9:ENST00000397843.7:exon31:c.C2977A:p.R993S 11q23.3 C3L-00561 . . . . . . . . . 16.20 D D D D D D M T D 0.829 D T D 0.435 0.360 0.920 2.586 T D D D D D 4.231 29.000 0.998 D N 0.740 7.720 0.706 7.869 0.978 0.732 0.709 0.744 0.714 . 5.680 5.680 2.566 1.026 0.549 0.988 1.000 0.982 917 . . . . ARHGEF12 178 0 141 20 0.124223602484472 TRUE TRUE +ENSG00000060237.17 . BCM GRCh38.p13 chr12 897573 897573 + A A T Missense_Mutation SNP ENST00000315939.11 exon25 c.A6340T p.I2114F exonic ENSG00000060237.17 . nonsynonymous SNV ENSG00000060237.17:ENST00000315939.11:exon25:c.A6340T:p.I2114F 12p13.33 C3L-00561 . . . . . . . . . 10.20 T T D P D D N T D 0.632 T T D 0.319 0.466 0.243 0.709 T T D T D D 3.421 24.500 0.930 D D 0.238 3.475 0.328 3.886 1.000 0.707 0.725 0.725 0.714 . 5.300 5.300 4.531 1.312 0.756 1.000 1.000 0.994 518 . . . . WNK1 391 0 478 59 0.109869646182495 TRUE TRUE +ENSG00000111530.13 . BCM GRCh38.p13 chr12 67299027 67299027 + A A T Missense_Mutation SNP ENST00000545606.6 exon7 c.A932T p.Y311F exonic ENSG00000111530.13 . nonsynonymous SNV ENSG00000111530.13:ENST00000545606.6:exon7:c.A932T:p.Y311F 12q14.3 C3L-00561 . . . . . . . . . 10.20 D T P P D D M T D 0.522 T T T 0.215 0.470 0.581 1.314 D T T T D D 3.252 24.000 0.987 D D 0.548 5.428 0.604 6.273 1.000 0.732 0.744 0.744 0.728 . 5.570 5.570 9.123 1.288 0.756 1.000 0.998 0.990 911 . . . . CAND1 125 0 74 25 0.252525252525253 TRUE TRUE +ENSG00000153233.13 . BCM GRCh38.p13 chr12 70754194 70754194 + C C A Missense_Mutation SNP ENST00000283228.7 exon5 c.G735T p.L245F exonic ENSG00000153233.13 . nonsynonymous SNV ENSG00000153233.13:ENST00000283228.7:exon5:c.G735T:p.L245F 12q15 C3L-00561 8.474e-06 0 0 0 0 1.541e-05 0 0 rs151053959 11.20 D D D D U D M T N 0.448 T T D 0.219 0.379 0.599 0.194 T T D D D T 3.486 24.700 0.999 D N 0.524 5.225 0.498 5.139 1.000 0.487 0.574 0.492 0.542 . 5.860 4.840 1.224 1.000 0.589 1.000 1.000 0.999 542 . . . . PTPRR 91 0 93 7 0.07 TRUE NA +ENSG00000111331.13 . BCM GRCh38.p13 chr12 112961217 112961217 + A A C Missense_Mutation SNP ENST00000228928.12 exon8 c.A1804C p.I602L exonic ENSG00000111331.13 . nonsynonymous SNV ENSG00000111331.13:ENST00000228928.12:exon8:c.A1804C:p.I602L 12q24.13 C3L-00561 . . . . . . . . . 2.19 D T P P . N L T N 0.234 T T T 0.162 0.663 0.573 0.391 T T T T D T 2.772 23.000 0.987 N N -0.306 1.600 -0.406 1.361 0.986 0.706 0.696 0.607 0.613 . 4.640 0.583 0.960 0.264 -0.095 0.328 0.732 0.937 115 2'-5'-oligoadenylate_synthetase_1,_domain_2/C-terminal . . . OAS3 92 0 99 31 0.238461538461538 TRUE TRUE +ENSG00000134897.14 . BCM GRCh38.p13 chr13 102831625 102831625 + A A T Missense_Mutation SNP ENST00000257336.6 exon8 c.A962T p.Y321F exonic ENSG00000134897.14;ENSG00000270181.3 . nonsynonymous SNV ENSG00000134897.14:ENST00000257336.6:exon8:c.A962T:p.Y321F,ENSG00000270181.3:ENST00000639435.1:exon8:c.A962T:p.Y321F 13q33.1 C3L-00561 . . . . . . . . . 14.18 D D D D D D M . D 0.739 T T T 0.500 0.716 0.210 0.902 . T D D D D 3.979 26.800 0.990 D D 0.872 10.355 0.866 12.357 1.000 0.732 0.744 0.653 0.728 . 5.970 5.970 8.947 1.312 0.756 1.000 1.000 0.999 944 . . . . BIVM 183 0 141 21 0.12962962962963 TRUE TRUE +ENSG00000205730.6 . BCM GRCh38.p13 chr16 19116002 19116002 + G G A Missense_Mutation SNP ENST00000381440.4 exon1 c.G1541A p.R514H exonic ENSG00000205730.6 . nonsynonymous SNV ENSG00000205730.6:ENST00000381440.4:exon1:c.G1541A:p.R514H 16p12.3 C3L-00561 . . . . . . . . . 8.20 D D D D U D N T N 0.584 T T T 0.169 0.233 0.435 . T T T T D T 3.983 26.900 0.999 D D 0.615 6.085 0.641 6.776 1.000 0.672 0.702 0.654 0.639 . 5.500 5.500 7.106 1.176 0.676 1.000 0.999 0.998 900 . . . ID=COSV101198181;OCCURENCE=1(endometrium) ITPRIPL2 79 0 71 10 0.123456790123457 TRUE NA +ENSG00000108256.9 . BCM GRCh38.p13 chr17 29286052 29286052 + C C A Nonsense_Mutation SNP ENST00000225388.9 exon2 c.G1942T p.E648X exonic ENSG00000108256.9 . stopgain ENSG00000108256.9:ENST00000225388.9:exon2:c.G1942T:p.E648X 17q11.2 C3L-00561 . . . . . . . . . 5.6 . . . . D D . . . 0.412 . . . . . . . . . D D . . 7.352 37 0.995 D N 1.013 14.336 0.866 12.365 1.000 0.646 0.696 0.702 0.711 . 6.020 5.050 4.556 1.026 0.599 1.000 1.000 0.999 386 . . . . NUFIP2 100 1 94 12 0.113207547169811 TRUE TRUE +ENSG00000154263.17 . BCM GRCh38.p13 chr17 69219735 69219735 + A A C Missense_Mutation SNP ENST00000269081.8 exon7 c.T340G p.S114A exonic ENSG00000154263.17 . nonsynonymous SNV ENSG00000154263.17:ENST00000269081.8:exon7:c.T340G:p.S114A 17q24.3 C3L-00561 . . . . . . . . . 6.20 D T B B U N M D N 0.234 T D D 0.413 0.466 0.755 0.119 T T T T D T 1.643 16.650 0.991 N N -0.053 2.327 -0.152 1.906 0.000 0.554 0.588 0.574 0.613 . 3.730 2.580 2.103 1.245 0.665 0.873 0.298 0.982 921 . . . . ABCA10 60 0 34 14 0.291666666666667 TRUE TRUE +ENSG00000079999.14 . BCM GRCh38.p13 chr19 10492117 10492117 + A A C Missense_Mutation SNP ENST00000171111.10 exon3 c.T785G p.F262C exonic ENSG00000079999.14 . nonsynonymous SNV ENSG00000079999.14:ENST00000171111.10:exon3:c.T785G:p.F262C 19p13.2 C3L-00561 . . . . . . . . . 7.20 T T P P D D N T N 0.497 T T D 0.172 0.422 0.757 1.362 T T T T D D 3.431 24.500 0.980 D D -0.173 1.954 -0.077 2.114 1.000 0.675 0.698 0.672 0.711 . 5.610 3.470 1.474 1.298 0.740 1.000 0.998 0.972 725 BTB/Kelch-associated . . . KEAP1 441 0 360 54 0.130434782608696 TRUE TRUE +ENSG00000153885.14 . BCM GRCh38.p13 chr19 33811383 33811383 + C C T Missense_Mutation SNP ENST00000430256.3 exon5 c.C524T p.P175L exonic ENSG00000153885.14 . nonsynonymous SNV ENSG00000153885.14:ENST00000430256.3:exon5:c.C524T:p.P175L 19q13.11 C3L-00561 . . . . . . . . . 15.20 T D D D D D M T D 0.931 T T D 0.449 0.425 0.984 1.635 D T D D D D 3.400 24.400 0.999 D D 0.503 5.056 0.538 5.521 1.000 0.707 0.658 0.723 0.714 . 5.020 5.020 7.512 1.016 0.537 1.000 0.256 0.477 823 . . . . KCTD15 201 0 184 24 0.115384615384615 TRUE TRUE +ENSG00000167601.12 . BCM GRCh38.p13 chr19 41221957 41221957 + C C G Missense_Mutation SNP ENST00000301178.9 exon4 c.C487G p.Q163E exonic ENSG00000167601.12 . nonsynonymous SNV ENSG00000167601.12:ENST00000301178.9:exon4:c.C487G:p.Q163E 19q13.2 C3L-00561 . . . . . . . . . 1.20 T T B B N N N T N 0.398 T T T 0.049 0.255 0.093 0.281 T T T T T T 1.759 17.430 0.978 D N -0.624 0.945 -0.436 1.309 1.000 0.507 0.590 0.723 0.635 . 3.860 2.800 2.140 0.103 0.548 0.974 0.989 0.986 532 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV99995846;OCCURENCE=1(lung) AXL 108 0 124 8 0.0606060606060606 TRUE TRUE +ENSG00000125991.19 . BCM GRCh38.p13 chr20 35548574 35548574 + C C G Missense_Mutation SNP ENST00000348547.6 exon6 c.C527G p.P176R exonic ENSG00000125991.19 . nonsynonymous SNV ENSG00000125991.19:ENST00000348547.6:exon6:c.C527G:p.P176R 20q11.22 C3L-00561 . . . . . . . . . 9.20 T T P P N D M T D 0.559 T T D 0.257 0.401 0.761 1.141 D T T T D D 3.249 24.000 0.997 D D 0.289 3.722 0.289 3.653 1.000 0.719 0.723 0.725 0.714 . 4.670 3.690 7.805 0.939 0.542 1.000 0.955 0.992 489 Endoplasmic_reticulum_vesicle_transporter,_C-terminal . . . ERGIC3 207 1 226 19 0.0775510204081633 TRUE NA +ENSG00000124198.9 . BCM GRCh38.p13 chr20 49033029 49033029 + G G A Missense_Mutation SNP ENST00000371917.5 exon39 c.G5188A p.A1730T exonic ENSG00000124198.9 . nonsynonymous SNV ENSG00000124198.9:ENST00000371917.5:exon39:c.G5188A:p.A1730T 20q13.13 C3L-00561 . . . . . . . . . 4.20 T T B B D D L T N 0.363 T T T 0.095 0.240 0.432 0.428 T T T T T D 2.485 22.400 0.992 D N -0.034 2.393 0.179 3.081 1.000 0.707 0.725 0.725 0.714 . 5.660 5.660 4.741 1.176 0.676 1.000 1.000 1.000 930 . . . . ARFGEF2 184 3 223 14 0.0590717299578059 NA TRUE +ENSG00000124198.9 . BCM GRCh38.p13 chr20 49033030 49033030 + C C T Missense_Mutation SNP ENST00000371917.5 exon39 c.C5189T p.A1730V exonic ENSG00000124198.9 . nonsynonymous SNV ENSG00000124198.9:ENST00000371917.5:exon39:c.C5189T:p.A1730V 20q13.13 C3L-00561 . . . . . . . . . 5.20 T T B B D D L T N 0.175 T T T 0.069 0.366 0.286 0.426 T T T T D D 2.362 21.900 0.986 D N -0.049 2.343 0.172 3.048 1.000 0.707 0.725 0.725 0.714 . 5.660 5.660 4.033 1.026 0.599 1.000 1.000 1.000 930 . . . . ARFGEF2 167 0 197 12 0.0574162679425837 TRUE NA +ENSG00000244362.3 . BCM GRCh38.p13 chr21 30561118 30561118 + A A G Missense_Mutation SNP ENST00000334849.2 exon1 c.T172C p.W58R exonic ENSG00000244362.3 . nonsynonymous SNV ENSG00000244362.3:ENST00000334849.2:exon1:c.T172C:p.W58R 21q22.11 C3L-00561 . . . . . . . . rs904265716 2.17 . T D P U N . T N 0.421 T T T 0.120 0.280 0.242 0.026 . T T T D T 0.763 9.037 0.872 N N -0.011 2.471 -0.123 1.984 0.000 0.487 0.574 0.574 0.564 . 4.200 3.010 0.496 -0.320 -0.207 0.002 0.003 0.009 507 . . . ID=COSV58366443;OCCURENCE=1(lung) KRTAP19-7 209 0 261 63 0.194444444444444 TRUE TRUE +ENSG00000205726.15 . BCM GRCh38.p13 chr21 33836534 33836534 + A A G Missense_Mutation SNP ENST00000381318.8 exon29 c.A3563G p.E1188G exonic ENSG00000205726.15 . nonsynonymous SNV ENSG00000205726.15:ENST00000381318.8:exon29:c.A3563G:p.E1188G 21q22.11 C3L-00561 . . . . . . . . . 10.20 D D D P D D L T D 0.602 T T T 0.286 0.515 0.531 0.547 T T T T D D 4.393 31 0.998 D D 0.556 5.506 0.558 5.735 1.000 0.707 0.588 0.725 0.714 . 4.370 4.370 9.132 1.312 0.743 1.000 0.999 0.997 808 SH3_domain . . . ITSN1 141 0 160 19 0.106145251396648 NA TRUE +ENSG00000128191.16 . BCM GRCh38.p13 chr22 20091499 20091499 + A A T Missense_Mutation SNP ENST00000351989.8 exon6 c.A1371T p.K457N exonic ENSG00000128191.16 . nonsynonymous SNV ENSG00000128191.16:ENST00000351989.8:exon6:c.A1371T:p.K457N 22q11.21 C3L-00561 . . . . . . . . . 10.20 D D D D D D L T N 0.732 T T T 0.113 0.429 0.488 1.655 D T T T D D 2.733 22.900 0.995 D N -0.154 2.010 -0.179 1.837 1.000 0.707 0.725 0.702 0.714 . 4.770 -0.122 0.813 0.321 -0.122 1.000 1.000 0.991 537 . . . . DGCR8 270 0 303 28 0.0845921450151057 TRUE TRUE +ENSG00000184708.18 . BCM GRCh38.p13 chr22 31458618 31458618 + C C G Missense_Mutation SNP ENST00000330125.10 exon7 c.G820C p.E274Q exonic ENSG00000184708.18 . nonsynonymous SNV ENSG00000184708.18:ENST00000330125.10:exon7:c.G820C:p.E274Q 22q12.2 C3L-00561 . . . . . . . . . 9.19 D T D D D D L . N 0.312 T T T 0.169 0.399 0.374 1.672 T T T T D D 3.267 24.000 0.998 D D 0.676 6.797 0.699 7.742 1.000 0.706 0.698 0.710 0.714 . 5.570 5.570 7.218 1.026 0.599 1.000 1.000 0.969 396 . . . . EIF4ENIF1 89 0 85 16 0.158415841584158 TRUE TRUE +ENSG00000269502.5 . BCM GRCh38.p13 chrX 72872462 72872462 + A A C Missense_Mutation SNP ENST00000595412.5 exon6 c.T569G p.L190R exonic ENSG00000269502.5 . nonsynonymous SNV ENSG00000269502.5:ENST00000595412.5:exon6:c.T569G:p.L190R Xq13.1 C3L-00561 . . . . . . . . . 4.13 . D . . U N L . . 0.589 T T T 0.186 . 0.459 . T T D D D . 2.857 23.100 0.997 N . . . . . 0.000 . . . . . 2.980 1.800 1.139 1.156 0.675 0.988 1.000 0.999 57 Doublesex-_and_mab-3-related_transcription_factor_C1/C2,_C-terminal . . . DMRTC1 33 0 25 9 0.264705882352941 NA TRUE +ENSG00000165246.14 . BCM GRCh38.p13 chrY 14840748 14840748 + A A G Missense_Mutation SNP ENST00000339174.9 exon6 c.A1937G p.N646S exonic ENSG00000165246.14 . nonsynonymous SNV ENSG00000165246.14:ENST00000339174.9:exon6:c.A1937G:p.N646S Yq11.221 C3L-00561 . . . . . . . . . 2.13 T T B B . . L T N 0.172 . . D . . 0.093 0.446 . T T T . T 1.043 12.160 0.261 D . . . . . 1.000 . . . . . 1.900 0.607 3.232 0.883 0.351 1.000 0.981 0.963 . . . . . NLGN4Y 243 0 293 57 0.162857142857143 NA TRUE +ENSG00000188817.8 . BCM GRCh38.p13 chr3 63654761 63654761 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000188817.8 ENST00000343837.8:exon2:c.111-1G>A . . 3p14.2 C3L-00561 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.553 32 0.995 D . 0.990 13.605 0.807 10.336 1.000 0.061 0.063 0.063 0.057 0.971 5.110 5.110 4.733 1.146 0.618 1.000 0.637 0.468 833 . . . . SNTN 100 0 74 11 0.129411764705882 TRUE TRUE +ENSG00000204624.8 . BCM GRCh38.p13 chr1 11535030 11535030 + C C T Silent SNP ENST00000294484.7 exon19 c.C3555T p.C1185C exonic ENSG00000204624.8 . synonymous SNV ENSG00000204624.8:ENST00000294484.7:exon19:c.C3555T:p.C1185C 1p36.22 C3L-00561 0.0038 0.0017 0.0052 0 0 0.0046 0.0032 0.0045 rs41274536 3.12 . D . . . D . . D 0.255 T T T 0.495 . 0.223 . . . T T T T -0.484 0.128 0.987 N N -0.787 0.674 -0.922 0.590 0.041 0.646 0.611 0.645 0.613 . 5.380 -4.930 -2.880 -0.681 -1.051 0.000 0.947 0.151 813 . . . . DISP3 133 0 99 18 0.153846153846154 TRUE NA +ENSG00000068654.16 . BCM GRCh38.p13 chr2 86030286 86030286 + G G C Silent SNP ENST00000263857.11 exon31 c.C4689G p.L1563L exonic ENSG00000068654.16 . synonymous SNV ENSG00000068654.16:ENST00000263857.11:exon31:c.C4689G:p.L1563L 2p11.2 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POLR1A 298 0 271 45 0.142405063291139 TRUE TRUE +ENSG00000008300.17 . BCM GRCh38.p13 chr3 48659995 48659995 + G G A Silent SNP ENST00000164024.5 exon1 c.C2640T p.I880I exonic ENSG00000008300.17 . synonymous SNV ENSG00000008300.17:ENST00000164024.5:exon1:c.C2640T:p.I880I 3p21.31 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CELSR3 270 0 200 41 0.170124481327801 TRUE TRUE +ENSG00000197603.14 . BCM GRCh38.p13 chr5 37169304 37169304 + G G A Silent SNP ENST00000425232.6 exon34 c.C6720T p.F2240F exonic ENSG00000197603.14 . synonymous SNV ENSG00000197603.14:ENST00000425232.6:exon34:c.C6720T:p.F2240F 5p13.2 C3L-00561 1.65e-05 0 0 0 0 3.001e-05 0 0 rs146959185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPLANE1 133 0 155 14 0.0828402366863905 TRUE NA +ENSG00000120327.6 . BCM GRCh38.p13 chr5 141224165 141224165 + G G A Silent SNP ENST00000239449.6 exon1 c.G660A p.P220P exonic ENSG00000120327.6 . synonymous SNV ENSG00000120327.6:ENST00000239449.6:exon1:c.G660A:p.P220P 5q31.3 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHB14 126 0 131 38 0.224852071005917 TRUE TRUE +ENSG00000112655.16 . BCM GRCh38.p13 chr6 43145324 43145324 + G G A Silent SNP ENST00000230419.9 exon16 c.G2532A p.R844R exonic ENSG00000112655.16 . synonymous SNV ENSG00000112655.16:ENST00000230419.9:exon16:c.G2532A:p.R844R 6p21.1 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57847318;OCCURENCE=1(oesophagus) PTK7 68 0 63 5 0.0735294117647059 TRUE TRUE +ENSG00000135245.10 . BCM GRCh38.p13 chr7 128457308 128457308 + C C T Silent SNP ENST00000257696.5 exon2 c.C40T p.L14L exonic ENSG00000135245.10 . synonymous SNV ENSG00000135245.10:ENST00000257696.5:exon2:c.C40T:p.L14L 7q32.1 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HILPDA 101 0 96 15 0.135135135135135 TRUE TRUE +ENSG00000147481.17 . BCM GRCh38.p13 chr8 50502783 50502783 + G G A Silent SNP ENST00000642720.2 exon9 c.G369A p.Q123Q exonic ENSG00000147481.17 . synonymous SNV ENSG00000147481.17:ENST00000642720.2:exon9:c.G369A:p.Q123Q 8q11.21 C3L-00561 . . . . . . . . rs771241632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52462458;OCCURENCE=1(lung) SNTG1 102 0 93 6 0.0606060606060606 TRUE TRUE +ENSG00000107104.19 . BCM GRCh38.p13 chr9 711558 711558 + C C A Silent SNP ENST00000619269.4 exon4 c.C792A p.R264R exonic ENSG00000107104.19 . synonymous SNV ENSG00000107104.19:ENST00000619269.4:exon4:c.C792A:p.R264R 9p24.3 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANK1 73 0 63 13 0.171052631578947 TRUE TRUE +ENSG00000172489.6 . BCM GRCh38.p13 chr11 56252430 56252430 + G G T Silent SNP ENST00000303059.3 exon1 c.G231T p.V77V exonic ENSG00000172489.6 . synonymous SNV ENSG00000172489.6:ENST00000303059.3:exon1:c.G231T:p.V77V 11q12.1 C3L-00561 8.255e-06 0 0 0 0 0 0 6.062e-05 rs747953807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5T3 135 0 129 25 0.162337662337662 TRUE NA +ENSG00000172772.3 . BCM GRCh38.p13 chr11 58267631 58267631 + G G C Silent SNP ENST00000395079.2 exon1 c.C228G p.T76T exonic ENSG00000172772.3 . synonymous SNV ENSG00000172772.3:ENST00000395079.2:exon1:c.C228G:p.T76T 11q12.1 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR10W1 175 0 156 37 0.191709844559585 TRUE TRUE +ENSG00000205330.4 . BCM GRCh38.p13 chr12 55320710 55320710 + C C A Silent SNP ENST00000642104.1 exon2 c.C111A p.I37I exonic ENSG00000205330.4 . synonymous SNV ENSG00000205330.4:ENST00000642104.1:exon2:c.C111A:p.I37I 12q13.2 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR6C1 170 0 188 24 0.113207547169811 TRUE TRUE +ENSG00000103404.14 . BCM GRCh38.p13 chr16 23068109 23068109 + T T C Silent SNP ENST00000219689.11 exon16 c.A3996G p.K1332K exonic ENSG00000103404.14 . synonymous SNV ENSG00000103404.14:ENST00000219689.11:exon16:c.A3996G:p.K1332K 16p12.2 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP31 154 0 124 51 0.291428571428571 TRUE TRUE +ENSG00000141367.12 . BCM GRCh38.p13 chr17 59651271 59651271 + C C G Silent SNP ENST00000269122.8 exon5 c.C750G p.V250V exonic ENSG00000141367.12 . synonymous SNV ENSG00000141367.12:ENST00000269122.8:exon5:c.C750G:p.V250V 17q23.1 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLTC 102 0 112 8 0.0666666666666667 TRUE TRUE +ENSG00000101596.16 . BCM GRCh38.p13 chr18 2784503 2784503 + T T A Silent SNP ENST00000320876.11 exon45 c.T5601A p.I1867I exonic ENSG00000101596.16 . synonymous SNV ENSG00000101596.16:ENST00000320876.11:exon45:c.T5601A:p.I1867I 18p11.32 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMCHD1 105 0 94 34 0.265625 TRUE TRUE +ENSG00000130307.12 . BCM GRCh38.p13 chr19 17256573 17256573 + G G C Silent SNP ENST00000252597.8 exon9 c.C1368G p.P456P exonic ENSG00000130307.12 . synonymous SNV ENSG00000130307.12:ENST00000252597.8:exon9:c.C1368G:p.P456P 19p13.11 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USHBP1 176 1 150 21 0.12280701754386 TRUE TRUE +ENSG00000167595.15 . BCM GRCh38.p13 chr19 35766772 35766772 + C C A Silent SNP ENST00000396908.8 exon8 c.C774A p.S258S exonic ENSG00000167595.15 . synonymous SNV ENSG00000167595.15:ENST00000396908.8:exon8:c.C774A:p.S258S 19q13.12 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PROSER3 44 0 37 9 0.195652173913043 TRUE TRUE +ENSG00000100393.14 . BCM GRCh38.p13 chr22 41151871 41151871 + A A G Silent SNP ENST00000263253.9 exon15 c.A2856G p.S952S exonic ENSG00000100393.14 . synonymous SNV ENSG00000100393.14:ENST00000263253.9:exon15:c.A2856G:p.S952S 22q13.2 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EP300 287 1 233 55 0.190972222222222 TRUE TRUE +ENSG00000189299.7 . BCM GRCh38.p13 chrX 55624122 55624122 + G G A Silent SNP ENST00000339140.5 exon1 c.G411A p.E137E exonic ENSG00000189299.7 . synonymous SNV ENSG00000189299.7:ENST00000339140.5:exon1:c.G411A:p.E137E Xp11.21 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXR2 46 0 58 5 0.0793650793650794 TRUE TRUE +ENSG00000227124.11 . BCM GRCh38.p13 chr3 75937527 75937527 + A A C IGR SNP NA NA NA NA intergenic ENSG00000227124.11;ENSG00000222883.1 dist=151978;dist=27453 . . 3p12.3 C3L-00561 . . . . . . . . . 0.13 T T . . . . . T N 0.257 T T T 0.025 0.462 0.123 0.208 . . T T T T -0.149 0.655 0.360 N N -0.674 0.857 -0.724 0.865 0.020 0.633 0.006 0.602 0.756 . 4.500 0.821 0.168 0.192 0.718 0.325 0.380 0.175 937 . . . . ZNF717 67 0 47 10 0.175438596491228 NA TRUE +ENSG00000170549.4 . BCM GRCh38.p13 chr5 3610303 3610303 + C C A IGR SNP NA NA NA NA intergenic ENSG00000170549.4;ENSG00000248962.1 dist=8900;dist=402405 . . 5p15.33 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRX1 275 1 313 36 0.103151862464183 TRUE NA +ENSG00000164855.16 . BCM GRCh38.p13 chr7 1549139 1549139 + G G A Intron SNP NA NA NA NA intronic ENSG00000164855.16 . . . 7p22.3 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM184A 166 0 138 14 0.0921052631578947 TRUE NA +ENSG00000280266.1 . BCM GRCh38.p13 chr7 157526269 157526269 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000280266.1 . . . 7q36.3 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC006372.4 214 1 245 42 0.146341463414634 TRUE NA +ENSG00000213694.6 . BCM GRCh38.p13 chr9 88991733 88991733 + G G C Intron SNP NA NA NA NA intronic ENSG00000213694.6 . . . 9q22.1 C3L-00561 0.0008 0.0080 0 0 0 0.0013 0 0 rs371427998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . S1PR3 64 0 50 8 0.137931034482759 TRUE NA +ENSG00000258708.1 . BCM GRCh38.p13 chr14 37172558 37172558 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000258708.1 . . . 14q13.3 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A21-AS1 255 0 218 43 0.164750957854406 TRUE NA +ENSG00000154099.18 . BCM GRCh38.p13 chr16 84177563 84177563 + A A C Intron SNP NA NA NA NA intronic ENSG00000154099.18 . . . 16q24.1 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAAF1 38 0 25 10 0.285714285714286 TRUE TRUE +ENSG00000031823.14 . BCM GRCh38.p13 chr19 5962701 5962702 + CA CA - Intron DEL NA NA NA NA intronic ENSG00000031823.14 . . . 19p13.3 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RANBP3 143 0 132 30 0.185185185185185 TRUE NA +ENSG00000213973.9 . BCM GRCh38.p13 chr19 22754032 22754032 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000213973.9 ENST00000596209.4:c.*3282G>C . . 19p12 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF99 91 0 107 7 0.0614035087719298 TRUE NA +ENSG00000131401.11 . BCM GRCh38.p13 chr19 50333869 50333869 + G G - 3'Flank SNP NA NA NA NA downstream ENSG00000131401.11 dist=8 . . 19q13.33 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAPSB 116 0 67 25 0.271739130434783 TRUE NA +ENSG00000121417.14 . BCM GRCh38.p13 chr19 57633856 57633856 + C C T Intron SNP NA NA NA NA intronic ENSG00000121417.14 . . . 19q13.43 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53745472;OCCURENCE=1(skin) ZNF211 178 0 154 13 0.0778443113772455 TRUE NA +ENSG00000212498.1 . BCM GRCh38.p13 chr20 2656169 2656169 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000212498.1 . . . 20p13 C3L-00561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD86 180 0 155 20 0.114285714285714 TRUE NA +ENSG00000198930.13 . BCM GRCh38.p13 chrX 152728042 152728042 + C C T Intron SNP NA NA NA NA intronic ENSG00000198930.13 . . . Xq28 C3L-00561 . . . . . . . . . 3.5 D D . . . . . T D 0.183 . . . . . . . . . . . . T -0.010 1.274 . . . . . . . . . . . . . . . -0.175 0.469 0.297 0.000 0.001 0.001 645 . . . . CSAG1 117 1 133 13 0.089041095890411 NA TRUE +ENSG00000204859.13 . BCM GRCh38.p13 chr1 6588139 6588139 + C C A Missense_Mutation SNP ENST00000377674.9 exon8 c.C1459A p.H487N exonic ENSG00000204859.13 . nonsynonymous SNV ENSG00000204859.13:ENST00000377674.9:exon8:c.C1459A:p.H487N 1p36.31 C3L-00581 . . . . . . . . . 18.19 D D D D D D . T D 0.904 D D D 0.689 0.757 0.711 1.055 D D D D D D 3.591 25.000 0.991 D D 1.015 14.405 0.950 16.063 1.000 0.672 0.702 0.702 0.636 . 5.600 5.600 7.905 1.026 0.599 1.000 0.929 0.624 763 Zinc_finger_C2H2-type . . . ZBTB48 198 0 136 23 0.144654088050314 TRUE TRUE +ENSG00000198198.17 . BCM GRCh38.p13 chr1 43447142 43447142 + A A C Missense_Mutation SNP ENST00000634258.3 exon66 c.A9260C p.H3087P exonic ENSG00000198198.17 . nonsynonymous SNV ENSG00000198198.17:ENST00000634258.3:exon66:c.A9260C:p.H3087P 1p34.2 C3L-00581 . . . . . . . . . 8.19 D T P P D D N . N 0.681 T T T 0.319 0.228 0.457 0.898 T T D T D D 3.116 23.700 0.949 D D 0.356 4.083 0.463 4.842 1.000 0.722 0.702 0.702 0.735 . 5.430 5.430 9.060 1.312 0.756 1.000 0.996 0.854 792 . . . . SZT2 242 0 193 43 0.182203389830508 TRUE TRUE +ENSG00000143105.7 . BCM GRCh38.p13 chr1 110518264 110518264 + G G A Missense_Mutation SNP ENST00000369771.4 exon1 c.C524T p.A175V exonic ENSG00000143105.7 . nonsynonymous SNV ENSG00000143105.7:ENST00000369771.4:exon1:c.C524T:p.A175V 1p13.3 C3L-00581 . . . . . . . . . 8.20 T T P B D D N T D 0.394 T T T 0.289 0.512 0.547 0.067 T D T T D D 2.570 22.600 0.988 D D 0.218 3.384 0.398 4.347 1.000 0.554 0.574 0.602 0.564 . 5.690 5.690 7.799 1.176 0.676 1.000 1.000 0.999 510 Potassium_channel_tetramerisation-type_BTB_domain;BTB/POZ_domain . . . KCNA10 186 0 163 42 0.204878048780488 TRUE TRUE +ENSG00000143850.16 . BCM GRCh38.p13 chr1 204257840 204257840 + C C T Missense_Mutation SNP ENST00000272203.8 exon9 c.G1037A p.R346K exonic ENSG00000143850.16 . nonsynonymous SNV ENSG00000143850.16:ENST00000272203.8:exon9:c.G1037A:p.R346K 1q32.1 C3L-00581 . . . . . . . . . 7.20 T T P P D D M T N 0.548 T T T 0.131 0.196 0.300 0.226 T T T T D D 3.011 23.400 0.996 D D 0.437 4.581 0.449 4.725 1.000 0.635 0.590 0.644 0.655 . 5.570 5.570 5.126 1.026 0.549 0.991 0.996 0.878 779 . . . . PLEKHA6 73 0 85 15 0.15 TRUE TRUE +ENSG00000198626.17 . BCM GRCh38.p13 chr1 237506775 237506775 + G G C Missense_Mutation SNP ENST00000366574.7 exon23 c.G2679C p.W893C exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon23:c.G2679C:p.W893C 1q43 C3L-00581 . . . . . . . . . 19.19 D . D D D D H D D 0.892 D D D 0.970 0.887 0.923 1.458 D D D D D D 4.490 32 0.994 D D 1.034 15.020 0.970 17.097 1.000 0.554 0.574 0.618 0.564 . 5.490 5.490 10.003 1.176 0.618 1.000 1.000 0.998 933 Ryanodine_receptor_Ryr . . . RYR2 147 0 155 30 0.162162162162162 TRUE TRUE +ENSG00000171163.16 . BCM GRCh38.p13 chr1 248856303 248856303 + C C T Missense_Mutation SNP ENST00000306601.9 exon6 c.G644A p.S215N exonic ENSG00000171163.16 . nonsynonymous SNV ENSG00000171163.16:ENST00000306601.9:exon6:c.G644A:p.S215N 1q44 C3L-00581 . . . . . . . . . 3.20 T T P P N D L T N 0.346 T T T 0.085 0.246 0.061 0.609 T T T T D T 3.033 23.500 0.992 D N 0.355 4.076 0.392 4.304 1.000 0.635 0.686 0.644 0.646 . 4.720 4.720 2.389 1.026 0.599 1.000 1.000 0.998 976 . . . . ZNF692 42 0 20 7 0.259259259259259 TRUE TRUE +ENSG00000134324.12 . BCM GRCh38.p13 chr2 11771562 11771562 + - NA A Frame_Shift_Ins NA ENST00000256720.6 exon4 c.480dupA p.S162Vfs*10 exonic ENSG00000134324.12 . frameshift insertion ENSG00000134324.12:ENST00000256720.6:exon4:c.480dupA:p.S162Vfs*10 2p25.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LPIN1 NA NA NA NA NA NA NA +ENSG00000049323.16 . BCM GRCh38.p13 chr2 33020986 33020986 + G G A Missense_Mutation SNP ENST00000404816.7 exon3 c.G643A p.G215S exonic ENSG00000049323.16 . nonsynonymous SNV ENSG00000049323.16:ENST00000404816.7:exon3:c.G643A:p.G215S 2p22.3 C3L-00581 . . . . . . . . . 16.17 D D . . . D M D D 0.843 D D D 0.967 0.836 0.909 0.593 T D D D D D 4.146 28.200 0.998 D D 0.990 13.616 0.890 13.342 1.000 0.507 0.610 0.658 0.639 . 4.990 4.990 8.257 1.176 0.665 1.000 0.998 0.987 526 EGF-like,_conserved_site;EGF-like_domain . . . LTBP1 116 0 112 23 0.17037037037037 TRUE TRUE +ENSG00000075340.23 . BCM GRCh38.p13 chr2 70706390 70706390 + G G T Missense_Mutation SNP ENST00000264436.9 exon3 c.C19A p.P7T exonic ENSG00000075340.23 . nonsynonymous SNV ENSG00000075340.23:ENST00000264436.9:exon3:c.C19A:p.P7T 2p13.3 C3L-00581 . . . . . . . . . 5.20 D T B B N N L T D 0.123 T T T 0.056 0.154 0.299 1.366 T T T T D D 1.919 18.640 0.973 D N -0.093 2.198 0.131 2.866 0.999 0.675 0.574 0.693 0.564 . 5.640 4.710 2.213 1.176 0.618 0.997 0.736 0.986 798 . . . ID=COSV52459516;OCCURENCE=1(large_intestine) ADD2 67 0 58 20 0.256410256410256 TRUE TRUE +ENSG00000163161.14 . BCM GRCh38.p13 chr2 127257682 127257682 + C C G Missense_Mutation SNP ENST00000285398.7 exon15 c.G2263C p.D755H exonic ENSG00000163161.14 . nonsynonymous SNV ENSG00000163161.14:ENST00000285398.7:exon15:c.G2263C:p.D755H 2q14.3 C3L-00581 . . . . . . . . . 10.20 T T B B D D L T D 0.769 T T D 0.283 0.320 0.815 1.031 T T D D D D 2.535 22.500 0.982 D D 0.128 2.999 0.212 3.242 1.000 0.732 0.725 0.744 0.714 . 5.660 5.660 6.170 1.026 0.599 1.000 0.651 0.711 970 . . . . ERCC3 313 0 313 80 0.203562340966921 TRUE TRUE +ENSG00000054219.11 . BCM GRCh38.p13 chr2 159881143 159881143 + A A C Missense_Mutation SNP ENST00000263636.5 exon8 c.T1344G p.D448E exonic ENSG00000054219.11;ENSG00000248672.5 . nonsynonymous SNV ENSG00000054219.11:ENST00000263636.5:exon8:c.T1344G:p.D448E,ENSG00000248672.5:ENST00000504764.5:exon8:c.T1344G:p.D448E 2q24.2 C3L-00581 . . . . . . . . . 6.19 T D D P N D L T N 0.273 T T T 0.103 0.362 0.265 0.315 . T T T D T 3.599 25.000 0.998 D D 0.220 3.391 0.315 3.808 0.985 0.732 0.744 0.618 0.655 . 6.160 5.000 3.315 1.288 0.756 1.000 0.999 0.999 620 C-type_lectin-like . . . LY75 124 0 90 17 0.158878504672897 TRUE TRUE +ENSG00000162944.11 . BCM GRCh38.p13 chr2 197633754 197633754 + C C T Missense_Mutation SNP ENST00000295049.9 exon4 c.G682A p.G228S exonic ENSG00000162944.11 . nonsynonymous SNV ENSG00000162944.11:ENST00000295049.9:exon4:c.G682A:p.G228S 2q33.1 C3L-00581 8.25e-06 0 0 0.0001 0 0 0 0 rs189615528 1.20 T T B B N N L T N 0.169 T T T 0.027 . 0.040 0.063 T T T T T T 1.062 12.380 0.908 D N -0.759 0.717 -0.612 1.028 0.000 0.554 0.574 0.602 0.568 . 5.080 2.220 0.515 0.136 0.599 0.849 0.644 0.990 372 . . . . RFTN2 142 0 129 36 0.218181818181818 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146584 10146584 + - NA C Frame_Shift_Ins NA ENST00000256474.3 exon2 c.412dupC p.S139Ifs*5 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon2:c.412dupC:p.S139Ifs*5 3p25.3 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000178917.16 . BCM GRCh38.p13 chr3 44500005 44500005 + G G A Missense_Mutation SNP ENST00000436261.5 exon4 c.C772T p.L258F exonic ENSG00000178917.16 . nonsynonymous SNV ENSG00000178917.16:ENST00000436261.5:exon4:c.C772T:p.L258F 3p21.31 C3L-00581 . . . . . . . . . 4.15 D D . . . N . T D 0.424 T T T 0.163 . 0.145 0.165 T T T T D . 2.964 23.300 0.993 N N -0.142 2.046 -0.316 1.531 0.017 0.651 0.654 0.651 0.636 . 3.440 2.560 3.437 1.083 0.618 0.730 0.596 0.856 323 Zinc_finger_C2H2-type . . ID=COSV101465013;OCCURENCE=1(soft_tissue) ZNF852 161 1 145 8 0.0522875816993464 TRUE TRUE +ENSG00000114270.17 . BCM GRCh38.p13 chr3 48589621 48589627 + CCTGTAT CCTGTAT - Frame_Shift_Del DEL ENST00000328333.12 exon16 c.2142_2148del p.Y715Ffs*37 exonic ENSG00000114270.17 . frameshift deletion ENSG00000114270.17:ENST00000328333.12:exon16:c.2142_2148del:p.Y715Ffs*37 3p21.31 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL7A1 470 0 275 66 0.193548387096774 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52403729 52403729 + C C - Frame_Shift_Del DEL ENST00000460680.6 exon13 c.1416delG p.S473Vfs*98 exonic ENSG00000163930.10 . frameshift deletion ENSG00000163930.10:ENST00000460680.6:exon13:c.1416delG:p.S473Vfs*98 3p21.1 C3L-00581 . . . . . . . . rs1060503731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 159 0 79 40 0.336134453781513 TRUE NA +ENSG00000159692.15 . BCM GRCh38.p13 chr4 1238195 1238195 + C C A Missense_Mutation SNP ENST00000290921.10 exon2 c.G183T p.E61D exonic ENSG00000159692.15 . nonsynonymous SNV ENSG00000159692.15:ENST00000290921.10:exon2:c.G183T:p.E61D 4p16.3 C3L-00581 . . . . . . . . . 16.20 D D D D D D L D D 0.715 D D D 0.532 0.543 0.797 1.779 T D T T D D 2.899 23.200 0.996 D D 0.356 4.083 0.360 4.087 1.000 0.672 0.702 0.702 0.711 . 4.620 3.620 2.127 0.943 0.596 1.000 0.998 0.930 856 D-isomer_specific_2-hydroxyacid_dehydrogenase,_catalytic_domain . . . CTBP1 99 0 85 12 0.123711340206186 TRUE TRUE +ENSG00000084093.18 . BCM GRCh38.p13 chr4 56910810 56910810 + G G A Missense_Mutation SNP ENST00000309042.12 exon2 c.G172A p.V58I exonic ENSG00000084093.18 . nonsynonymous SNV ENSG00000084093.18:ENST00000309042.12:exon2:c.G172A:p.V58I 4q12 C3L-00581 8.237e-06 9.61e-05 0 0 0 0 0 0 rs370180021 6.20 D T P P N N M T N 0.383 T T T 0.106 . 0.415 0.487 T T T T D D 3.622 25.100 0.998 D D 0.412 4.418 0.507 5.226 1.000 0.660 0.672 0.269 0.651 . 5.920 5.030 5.027 1.176 0.676 1.000 0.994 0.991 834 . . . . REST 135 0 118 28 0.191780821917808 TRUE NA +ENSG00000118785.14 . BCM GRCh38.p13 chr4 87981662 87981662 + A A G Missense_Mutation SNP ENST00000395080.8 exon6 c.A404G p.D135G exonic ENSG00000118785.14 . nonsynonymous SNV ENSG00000118785.14:ENST00000395080.8:exon6:c.A404G:p.D135G 4q22.1 C3L-00581 . . . . . . . . . 2.20 T D B B N N L T D 0.280 T T T 0.171 0.565 0.497 0.632 T T T T T T 1.531 15.930 0.942 N N -0.848 0.588 -0.916 0.598 0.659 0.706 0.547 0.710 0.613 . 4.990 -0.887 0.947 0.077 0.741 0.213 0.749 0.003 639 . . . . SPP1 325 0 373 64 0.146453089244851 TRUE TRUE +ENSG00000109775.11 . BCM GRCh38.p13 chr4 185413829 185413830 + AA AA - Frame_Shift_Del DEL ENST00000264689.11 exon7 c.727_728del p.F243Qfs*4 exonic ENSG00000109775.11 . frameshift deletion ENSG00000109775.11:ENST00000264689.11:exon7:c.727_728del:p.F243Qfs*4 4q35.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UFSP2 119 0 70 14 0.166666666666667 TRUE TRUE +ENSG00000049656.14 . BCM GRCh38.p13 chr5 1341724 1341724 + T T C Missense_Mutation SNP ENST00000320895.10 exon3 c.A400G p.M134V exonic ENSG00000049656.14 . nonsynonymous SNV ENSG00000049656.14:ENST00000320895.10:exon3:c.A400G:p.M134V 5p15.33 C3L-00581 2.476e-05 0 0 0 0 4.508e-05 0 0 rs762247898 13.20 D T D D D D M T N 0.885 T T D 0.274 0.517 0.659 0.400 T T D D D D 2.314 21.700 0.991 D D 0.362 4.118 0.379 4.210 1.000 0.707 0.672 0.725 0.714 . 5.210 4.050 5.692 1.068 0.644 1.000 1.000 0.998 952 . . . . CLPTM1L 148 0 120 31 0.205298013245033 TRUE NA +ENSG00000175471.19 . BCM GRCh38.p13 chr5 94799120 94799120 + C C - Frame_Shift_Del DEL ENST00000515393.5 exon18 c.2449delG p.V817Lfs*9 exonic ENSG00000175471.19 . frameshift deletion ENSG00000175471.19:ENST00000515393.5:exon18:c.2449delG:p.V817Lfs*9 5q15 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MCTP1 232 1 125 19 0.131944444444444 TRUE TRUE +ENSG00000164403.14 . BCM GRCh38.p13 chr5 132826130 132826130 + A A C Missense_Mutation SNP ENST00000378679.7 exon4 c.T11G p.L4R exonic ENSG00000164403.14 . nonsynonymous SNV ENSG00000164403.14:ENST00000378679.7:exon4:c.T11G:p.L4R 5q31.1 C3L-00581 . . . . . . . . . 7.20 D D D D D N L T N 0.393 T T D 0.153 0.370 0.588 2.582 T T T T D T 2.428 22.200 0.990 N N -0.331 1.539 -0.509 1.188 1.000 0.635 0.000 0.641 0.464 . 4.750 2.360 0.468 0.314 0.756 0.000 0.689 0.276 909 . . . . SHROOM1 15 0 16 5 0.238095238095238 TRUE TRUE +ENSG00000164265.9 . BCM GRCh38.p13 chr5 147882030 147882030 + G G T Missense_Mutation SNP ENST00000296694.5 exon3 c.G262T p.A88S exonic ENSG00000164265.9 . nonsynonymous SNV ENSG00000164265.9:ENST00000296694.5:exon3:c.G262T:p.A88S 5q32 C3L-00581 1.652e-05 0 0 0 0 3.004e-05 0 0 rs774802794 8.19 D D D D N D . T N 0.504 T T D 0.154 0.265 0.048 0.087 T T T T D T 2.849 23.100 0.997 D N 0.626 6.200 0.601 6.239 1.000 0.672 0.574 0.702 0.542 . 5.000 5.000 3.639 1.089 0.676 1.000 0.927 0.654 766 . . . . SCGB3A2 156 0 216 32 0.129032258064516 TRUE NA +ENSG00000204388.7 . BCM GRCh38.p13 chr6 31829482 31829482 + G G T Missense_Mutation SNP ENST00000375650.5 exon1 c.G1532T p.S511I exonic ENSG00000204388.7 . nonsynonymous SNV ENSG00000204388.7:ENST00000375650.5:exon1:c.G1532T:p.S511I 6p21.33 C3L-00581 . . . . . . . . . 11.16 D D . . D D . T D 0.755 T T D 0.370 0.563 0.467 . T T D D D . 4.401 31 0.995 D D 0.362 4.116 0.406 4.400 1.000 0.706 0.710 0.710 0.613 . 4.290 4.290 6.856 -0.135 0.618 1.000 0.992 0.999 900 . . . . HSPA1B 97 0 73 29 0.284313725490196 NA TRUE +ENSG00000124772.12 . BCM GRCh38.p13 chr6 36798471 36798471 + G G C Missense_Mutation SNP ENST00000244751.7 exon5 c.C311G p.P104R exonic ENSG00000124772.12 . nonsynonymous SNV ENSG00000124772.12:ENST00000244751.7:exon5:c.C311G:p.P104R 6p21.2 C3L-00581 . . . . . . . . . 8.20 T T P P D D M T N 0.539 T T D 0.097 0.356 0.735 1.778 D T T T D D 2.960 23.300 0.954 D N 0.215 3.372 0.258 3.480 0.903 0.707 0.590 0.602 0.714 . 4.640 4.640 3.126 1.176 0.676 1.000 0.991 0.995 791 C2_domain . . . CPNE5 141 0 153 32 0.172972972972973 TRUE TRUE +ENSG00000172673.10 . BCM GRCh38.p13 chr6 127829782 127829782 + G G T Missense_Mutation SNP ENST00000368250.5 exon4 c.C403A p.Q135K exonic ENSG00000172673.10 . nonsynonymous SNV ENSG00000172673.10:ENST00000368250.5:exon4:c.C403A:p.Q135K 6q22.33 C3L-00581 . . . . . . . . rs765387427 0.20 T T B B N N L T N 0.234 T T T 0.024 0.373 0.072 . T T T T T T 0.363 5.015 0.547 N N -1.116 0.292 -1.102 0.373 0.000 0.487 0.574 0.574 0.564 . 6.140 -1.520 0.389 0.194 -0.154 0.043 0.988 0.784 716 CABIT_domain . . ID=COSV100965532;OCCURENCE=1(upper_aerodigestive_tract) THEMIS 255 0 242 65 0.211726384364821 TRUE NA +ENSG00000071189.21 . BCM GRCh38.p13 chr7 17850431 17850431 + G G C Missense_Mutation SNP ENST00000428135.7 exon11 c.C981G p.I327M exonic ENSG00000071189.21 . nonsynonymous SNV ENSG00000071189.21:ENST00000428135.7:exon11:c.C981G:p.I327M 7p21.1 C3L-00581 . . . . . . . . . 5.20 T T B B D D N T N 0.585 T T T 0.110 0.345 0.287 0.510 T T T T D D 1.970 19.030 0.985 D N -0.100 2.174 0.044 2.514 1.000 0.732 0.710 0.659 0.728 . 5.350 4.460 2.286 1.176 0.618 1.000 1.000 0.995 593 . . . . SNX13 36 0 31 8 0.205128205128205 TRUE NA +ENSG00000188175.10 . BCM GRCh38.p13 chr7 93219224 93219224 + G G T Missense_Mutation SNP ENST00000394468.7 exon2 c.C307A p.P103T exonic ENSG00000188175.10 . nonsynonymous SNV ENSG00000188175.10:ENST00000394468.7:exon2:c.C307A:p.P103T 7q21.2 C3L-00581 . . . . . . . . . 11.20 D D D D D D L T N 0.663 T T D 0.258 0.391 0.489 0.585 T T T T D D 3.193 23.800 0.998 D D 0.601 5.938 0.660 7.062 1.000 0.487 0.574 0.574 0.530 . 5.720 5.720 7.508 1.176 0.676 1.000 0.998 0.956 770 Immunoglobulin_subtype . . . HEPACAM2 262 0 260 60 0.1875 TRUE TRUE +ENSG00000104635.14 . BCM GRCh38.p13 chr8 22408468 22408470 + GGA GGA - In_Frame_Del DEL ENST00000381237.6 exon3 c.429_431del p.E145del exonic ENSG00000104635.14 . nonframeshift deletion ENSG00000104635.14:ENST00000381237.6:exon3:c.429_431del:p.E145del 8p21.3 C3L-00581 8.337e-06 0 0 0 0 0 0 6.115e-05 rs772125874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC39A14 118 0 88 17 0.161904761904762 TRUE NA +ENSG00000104371.5 . BCM GRCh38.p13 chr8 42374275 42374275 + T T A Missense_Mutation SNP ENST00000220812.3 exon4 c.A500T p.K167M exonic ENSG00000104371.5 . nonsynonymous SNV ENSG00000104371.5:ENST00000220812.3:exon4:c.A500T:p.K167M 8p11.21 C3L-00581 . . . . . . . . . 19.20 D D D D D D M D D 0.771 D D D 0.789 0.721 0.952 0.737 T D D D D D 4.137 28.100 0.996 D D 0.816 9.108 0.783 9.634 1.000 0.554 0.588 0.547 0.613 . 6.030 6.030 7.896 1.138 0.665 1.000 0.996 0.996 709 Prokineticin_domain . . . DKK4 215 0 186 54 0.225 TRUE TRUE +ENSG00000147697.9 . BCM GRCh38.p13 chr8 129776205 129776205 + T T G Missense_Mutation SNP ENST00000276708.9 exon3 c.A301C p.I101L exonic ENSG00000147697.9 . nonsynonymous SNV ENSG00000147697.9:ENST00000276708.9:exon3:c.A301C:p.I101L 8q24.21 C3L-00581 . . . . . . . . . 0.20 T T B B N N N T N 0.154 T T T 0.012 0.445 0.014 0.018 T T T T T T -0.595 0.074 0.704 N N -1.283 0.174 -1.311 0.202 0.327 0.638 0.574 0.574 0.668 . 3.970 -0.258 -0.260 -1.332 -0.968 0.000 0.000 0.001 977 . . . . GSDMC 176 0 178 40 0.18348623853211 TRUE TRUE +ENSG00000160949.17 . BCM GRCh38.p13 chr8 144429225 144429225 + A A G Missense_Mutation SNP ENST00000409379.8 exon26 c.T4055C p.L1352P exonic ENSG00000160949.17 . nonsynonymous SNV ENSG00000160949.17:ENST00000409379.8:exon26:c.T4055C:p.L1352P 8q24.3 C3L-00581 . . . . . . . . . 8.19 D D D P N N M T D 0.534 T T D 0.387 0.586 0.642 0.606 T T D T D . 3.129 23.700 0.995 N N -0.005 2.495 -0.146 1.921 1.000 0.442 0.522 0.522 0.373 . 5.390 5.390 1.633 1.281 0.726 0.005 0.001 0.001 940 . . . . TONSL 129 0 96 23 0.19327731092437 TRUE TRUE +ENSG00000095319.14 . BCM GRCh38.p13 chr9 128986865 128986865 + C C A Missense_Mutation SNP ENST00000372577.2 exon22 c.C2254A p.L752M exonic ENSG00000095319.14 . nonsynonymous SNV ENSG00000095319.14:ENST00000372577.2:exon22:c.C2254A:p.L752M 9q34.11 C3L-00581 . . . . . . . . . 1.20 T T B B N N N T N 0.279 T T T 0.039 0.345 0.228 0.261 T T T T T T 1.612 16.450 0.956 D N -0.684 0.840 -0.585 1.069 1.000 0.707 0.725 0.725 0.714 . 5.630 1.440 0.391 0.126 0.599 0.974 0.079 0.478 913 . . . . NUP188 153 0 150 9 0.0566037735849057 TRUE NA +ENSG00000095777.17 . BCM GRCh38.p13 chr10 26173840 26173840 + G G A Missense_Mutation SNP ENST00000642920.2 exon30 c.G3576A p.M1192I exonic ENSG00000095777.17 . nonsynonymous SNV ENSG00000095777.17:ENST00000642920.2:exon30:c.G3576A:p.M1192I 10p12.1 C3L-00581 . . . . . . . . . 1.20 T T B B N D L T N 0.040 T T T 0.110 0.303 0.476 0.067 T T T T T T -0.118 0.760 0.381 N N -0.985 0.421 -0.911 0.605 0.000 0.554 0.590 0.602 0.564 . 5.290 0.931 -0.103 0.120 -0.227 0.186 0.392 0.498 738 . . . ID=COSV56349084;OCCURENCE=1(NS),3(skin) MYO3A 151 1 136 19 0.12258064516129 TRUE TRUE +ENSG00000107890.16 . BCM GRCh38.p13 chr10 27040169 27040169 + C C A Missense_Mutation SNP ENST00000376087.4 exon21 c.G2171T p.S724I exonic ENSG00000107890.16 . nonsynonymous SNV ENSG00000107890.16:ENST00000376087.4:exon21:c.G2171T:p.S724I 10p12.1 C3L-00581 . . . . . . . . . 3.16 D T . . N N . T D 0.394 T T T 0.043 . 0.122 0.131 T . T T D T 0.915 10.590 0.945 N N -0.612 0.966 -0.690 0.914 0.000 0.651 0.709 0.653 0.684 . 5.080 1.070 -0.019 0.090 -0.264 0.000 0.956 0.982 689 . . . . ANKRD26 97 1 65 9 0.121621621621622 TRUE TRUE +ENSG00000189180.16 . BCM GRCh38.p13 chr10 38055901 38055901 + A A G Missense_Mutation SNP ENST00000458705.6 exon5 c.A1774G p.K592E exonic ENSG00000189180.16 . nonsynonymous SNV ENSG00000189180.16:ENST00000458705.6:exon5:c.A1774G:p.K592E 10p11.1 C3L-00581 . . . . . . . . . 4.20 D T P B N N L T D 0.321 T T T 0.089 0.550 0.355 0.133 T T T T D D 3.027 23.500 0.982 N N -0.330 1.541 -0.527 1.158 0.007 0.707 0.725 0.609 0.636 . 1.690 0.531 -0.504 0.943 0.565 0.000 0.858 0.948 675 Zinc_finger_C2H2-type . . . ZNF33A 171 0 151 42 0.217616580310881 NA TRUE +ENSG00000122870.12 . BCM GRCh38.p13 chr10 58813898 58813898 + C C A Missense_Mutation SNP ENST00000373886.8 exon18 c.C2445A p.N815K exonic ENSG00000122870.12 . nonsynonymous SNV ENSG00000122870.12:ENST00000373886.8:exon18:c.C2445A:p.N815K 10q21.1 C3L-00581 . . . . . . . . . 9.20 D D P B D D M T N 0.798 T T T 0.120 0.382 0.651 0.832 T T T T D D 2.555 22.500 0.996 D D 0.226 3.419 0.291 3.663 1.000 0.554 0.574 0.618 0.564 . 6.030 3.170 2.735 1.026 0.599 1.000 1.000 0.991 982 . . . . BICC1 246 0 242 55 0.185185185185185 TRUE TRUE +ENSG00000107854.6 . BCM GRCh38.p13 chr10 91827129 91827129 + - NA A Frame_Shift_Ins NA ENST00000371627.5 exon8 c.909dupA p.T304Nfs*8 exonic ENSG00000107854.6 . frameshift insertion ENSG00000107854.6:ENST00000371627.5:exon8:c.909dupA:p.T304Nfs*8 10q23.32 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNKS2 NA NA NA NA NA NA NA +ENSG00000149289.11 . BCM GRCh38.p13 chr11 110136926 110136926 + T T A Missense_Mutation SNP ENST00000278590.8 exon2 c.T285A p.N95K exonic ENSG00000149289.11 . nonsynonymous SNV ENSG00000149289.11:ENST00000278590.8:exon2:c.T285A:p.N95K 11q22.3 C3L-00581 . . . . . . . . . 3.19 D T B B . N M T N 0.303 T T T 0.066 0.118 0.043 0.040 T T T T T T 1.413 15.170 0.993 D N -0.166 1.973 -0.043 2.216 0.984 0.707 0.725 0.659 0.714 . 5.420 4.290 0.942 1.138 0.660 1.000 0.993 0.989 476 . . . . ZC3H12C 237 0 220 41 0.157088122605364 TRUE TRUE +ENSG00000137642.13 . BCM GRCh38.p13 chr11 121595658 121595658 + G G - Frame_Shift_Del DEL ENST00000260197.12 exon32 c.4405delG p.R1470Dfs*43 exonic ENSG00000137642.13 . frameshift deletion ENSG00000137642.13:ENST00000260197.12:exon32:c.4405delG:p.R1470Dfs*43 11q24.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORL1 396 0 380 92 0.194915254237288 TRUE TRUE +ENSG00000197706.3 . BCM GRCh38.p13 chr12 55247615 55247616 + TT TT - Frame_Shift_Del DEL ENST00000343870.4 exon1 c.328_329del p.F111Sfs*8 exonic ENSG00000197706.3 . frameshift deletion ENSG00000197706.3:ENST00000343870.4:exon1:c.328_329del:p.F111Sfs*8 12q13.2 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR6C74 63 0 55 12 0.17910447761194 TRUE TRUE +ENSG00000061936.9 . BCM GRCh38.p13 chr12 131725422 131725422 + G G A Missense_Mutation SNP ENST00000261674.8 exon5 c.G624A p.M208I exonic ENSG00000061936.9 . nonsynonymous SNV ENSG00000061936.9:ENST00000261674.8:exon5:c.G624A:p.M208I 12q24.33 C3L-00581 . . . . . . . . . 6.20 T T P P D D L T N 0.648 T T T 0.153 0.404 0.266 0.957 T T T T D D 2.640 22.700 0.997 D D 0.272 3.639 0.411 4.435 1.000 0.722 0.702 0.699 0.714 . 6.040 6.040 4.217 1.176 0.676 1.000 0.997 0.953 982 . . . . SFSWAP 204 0 192 68 0.261538461538462 TRUE NA +ENSG00000198393.8 . BCM GRCh38.p13 chr12 133011153 133011153 + C C T Missense_Mutation SNP ENST00000328654.10 exon4 c.C1274T p.P425L exonic ENSG00000198393.8 . nonsynonymous SNV ENSG00000198393.8:ENST00000328654.10:exon4:c.C1274T:p.P425L 12q24.33 C3L-00581 . . . . . . . . . 10.20 T D D D N D M T D 0.379 T T T 0.250 0.616 0.210 . D T T T D T 3.135 23.700 0.998 D D 0.514 5.149 0.462 4.827 1.000 0.719 0.702 0.723 0.636 . 3.870 3.870 4.458 0.811 0.469 0.974 0.949 0.986 934 Zinc_finger_C2H2-type . . . ZNF26 217 0 207 35 0.144628099173554 TRUE TRUE +ENSG00000136161.12 . BCM GRCh38.p13 chr13 48515681 48515681 + A A - Frame_Shift_Del DEL ENST00000344532.7 exon5 c.103delT p.S35Pfs*10 exonic ENSG00000136161.12 . frameshift deletion ENSG00000136161.12:ENST00000344532.7:exon5:c.103delT:p.S35Pfs*10 13q14.2 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RCBTB2 114 0 152 28 0.155555555555556 TRUE TRUE +ENSG00000139970.17 . BCM GRCh38.p13 chr14 59727416 59727416 + G G A Missense_Mutation SNP ENST00000267484.10 exon3 c.C1268T p.A423V exonic ENSG00000139970.17 . nonsynonymous SNV ENSG00000139970.17:ENST00000267484.10:exon3:c.C1268T:p.A423V 14q23.1 C3L-00581 . . . . . . . . rs1014346787 4.20 D T D P N N L T N 0.122 T T T 0.132 0.275 0.068 0.241 T T T T D T 2.832 23.100 0.997 D N -0.177 1.942 -0.282 1.601 0.039 0.581 0.574 0.576 0.542 . 5.340 3.460 4.448 0.215 -0.148 0.894 0.233 0.386 453 . . . ID=COSV50718522;OCCURENCE=1(central_nervous_system) RTN1 147 0 99 31 0.238461538461538 TRUE TRUE +ENSG00000021776.11 . BCM GRCh38.p13 chr15 34863002 34863002 + T T G Missense_Mutation SNP ENST00000156471.10 exon33 c.A3894C p.R1298S exonic ENSG00000021776.11 . nonsynonymous SNV ENSG00000021776.11:ENST00000156471.10:exon33:c.A3894C:p.R1298S 15q14 C3L-00581 . . . . . . . . . 19.20 D D D D D D H D D 0.971 D D D 0.782 0.631 0.994 2.225 D D D D D D 3.433 24.500 0.997 D N 0.586 5.783 0.451 4.742 0.762 0.732 0.744 0.710 0.714 . 5.960 2.480 0.241 0.200 0.665 0.992 1.000 0.998 923 . . . . AQR 125 0 110 22 0.166666666666667 TRUE TRUE +ENSG00000138623.10 . BCM GRCh38.p13 chr15 74417656 74417656 + G G T Missense_Mutation SNP ENST00000261918.9 exon5 c.C485A p.P162Q exonic ENSG00000138623.10 . nonsynonymous SNV ENSG00000138623.10:ENST00000261918.9:exon5:c.C485A:p.P162Q 15q24.1 C3L-00581 . . . . . . . . . 0.20 T T B B N N N T N 0.182 T T T 0.046 0.459 0.478 0.428 T T T T T T 1.079 12.560 0.848 N N -0.864 0.566 -0.806 0.749 1.000 0.722 0.699 0.723 0.568 . 4.600 2.630 0.387 1.176 0.618 0.000 0.026 0.275 809 Sema_domain . . . SEMA7A 74 0 54 12 0.181818181818182 TRUE TRUE +ENSG00000176371.14 . BCM GRCh38.p13 chr15 84604172 84604172 + A A G Missense_Mutation SNP ENST00000546148.6 exon2 c.A245G p.E82G exonic ENSG00000176371.14 . nonsynonymous SNV ENSG00000176371.14:ENST00000546148.6:exon2:c.A245G:p.E82G 15q25.2 C3L-00581 . . . . . . . . . 13.20 D D D D D D M T D 0.673 T T T 0.258 0.514 0.299 0.475 T T D T D D 4.009 27.000 0.999 D D 0.743 7.766 0.690 7.573 1.000 0.628 0.686 0.672 0.636 . 5.630 5.630 3.335 1.312 0.756 0.999 0.964 0.868 685 SCAN_domain . . . ZSCAN2 187 0 221 46 0.172284644194757 TRUE TRUE +ENSG00000168488.18 . BCM GRCh38.p13 chr16 28825666 28825666 + C C A Missense_Mutation SNP ENST00000336783.8 exon3 c.C379A p.L127I exonic ENSG00000168488.18 . nonsynonymous SNV ENSG00000168488.18:ENST00000336783.8:exon3:c.C379A:p.L127I 16p11.2 C3L-00581 . . . . . . . . . 13.20 D D D D D D M T N 0.581 T T D 0.183 0.433 0.487 1.409 D T T T D D 3.658 25.200 0.995 D D 0.563 5.565 0.550 5.653 1.000 0.722 0.686 0.699 0.735 . 4.880 4.880 4.371 1.026 0.599 1.000 0.997 0.997 331 Ataxin_2,_SM_domain . . . ATXN2L 202 2 176 37 0.173708920187793 TRUE TRUE +ENSG00000185324.22 . BCM GRCh38.p13 chr16 89690585 89690585 + G G C Missense_Mutation SNP ENST00000353379.12 exon3 c.G193C p.V65L exonic ENSG00000185324.22 . nonsynonymous SNV ENSG00000185324.22:ENST00000353379.12:exon3:c.G193C:p.V65L 16q24.3 C3L-00581 . . . . . . . . . 16.20 D D D D D D M T D 0.891 D D D 0.754 0.797 0.902 0.355 D T T T D D 4.069 27.500 0.976 D D 0.889 10.776 0.810 10.437 1.000 0.672 0.702 0.698 0.711 . 5.100 5.100 9.390 1.146 0.676 1.000 0.839 0.781 764 Protein_kinase_domain;Protein_kinase,_ATP_binding_site . . . CDK10 246 0 249 50 0.167224080267559 TRUE TRUE +ENSG00000180787.6 . BCM GRCh38.p13 chr17 5092054 5092054 + C C T Missense_Mutation SNP ENST00000318833.4 exon2 c.C550T p.L184F exonic ENSG00000180787.6 . nonsynonymous SNV ENSG00000180787.6:ENST00000318833.4:exon2:c.C550T:p.L184F 17p13.2 C3L-00581 . . . . . . . . . 6.20 D D B B N N M T D 0.477 T T T 0.128 0.570 0.555 0.943 D T T T D T 2.667 22.800 0.996 N N -0.021 2.437 0.032 2.472 0.004 0.615 0.546 0.574 0.655 . 4.080 3.070 1.434 1.026 0.599 0.687 0.999 0.996 599 Zinc_finger_C2H2-type . . . ZFP3 220 0 209 30 0.125523012552301 TRUE TRUE +ENSG00000183914.14 . BCM GRCh38.p13 chr17 7770355 7770355 + G G T Nonsense_Mutation SNP ENST00000572933.5 exon25 c.G4045T p.E1349X exonic ENSG00000183914.14 . stopgain ENSG00000183914.14:ENST00000572933.5:exon25:c.G4045T:p.E1349X 17p13.1 C3L-00581 . . . . . . . . . 4.6 . . . . N A . . . 0.458 . . . . . . . . . D D . . 8.112 41 0.997 D N 0.764 8.119 0.572 5.895 0.528 0.487 0.563 0.574 0.530 . 5.450 4.470 6.384 1.176 0.676 1.000 1.000 0.998 234 Dynein_heavy_chain,_domain-2 . . . DNAH2 66 0 79 11 0.122222222222222 TRUE TRUE +ENSG00000007174.18 . BCM GRCh38.p13 chr17 11854234 11854234 + G G C Missense_Mutation SNP ENST00000262442.9 exon50 c.G9739C p.D3247H exonic ENSG00000007174.18 . nonsynonymous SNV ENSG00000007174.18:ENST00000262442.9:exon50:c.G9739C:p.D3247H 17p12 C3L-00581 . . . . . . . . . 17.20 D D D D D D L T D 0.788 D D D 0.683 0.319 0.899 0.160 T D D D D D 3.787 25.800 0.987 D D 0.792 8.625 0.734 8.445 1.000 0.487 0.574 0.492 0.564 . 5.540 5.540 5.574 0.217 0.676 1.000 0.620 0.924 692 Dynein_heavy_chain,_coiled_coil_stalk . . . DNAH9 266 0 275 66 0.193548387096774 TRUE TRUE +ENSG00000108424.10 . BCM GRCh38.p13 chr17 47665135 47665135 + C C G Missense_Mutation SNP ENST00000290158.9 exon9 c.C976G p.L326V exonic ENSG00000108424.10 . nonsynonymous SNV ENSG00000108424.10:ENST00000290158.9:exon9:c.C976G:p.L326V 17q21.32 C3L-00581 . . . . . . . . . 16.19 D T D P D . M T D 0.701 D D D 0.417 0.408 0.735 1.928 D D D D D D 3.531 24.800 0.998 D D 0.791 8.612 0.778 9.508 1.000 0.646 0.702 0.696 0.711 . 5.980 5.980 4.171 1.026 0.549 1.000 1.000 0.999 563 . . . . KPNB1 201 1 197 38 0.161702127659574 TRUE TRUE +ENSG00000171634.18 . BCM GRCh38.p13 chr17 67826089 67826089 + A A G Missense_Mutation SNP ENST00000321892.8 exon1 c.A365G p.N122S exonic ENSG00000171634.18 . nonsynonymous SNV ENSG00000171634.18:ENST00000321892.8:exon1:c.A365G:p.N122S 17q24.2 C3L-00581 . . . . . . . . . 2.19 T T B B . N N T N 0.014 T T D 0.170 0.132 0.410 0.880 D T T T T T 1.892 18.420 0.717 N N -0.740 0.746 -0.671 0.942 1.000 0.442 0.522 0.504 0.373 . 2.080 -0.315 1.885 0.932 0.527 1.000 1.000 0.898 891 . . . . BPTF 69 0 67 13 0.1625 TRUE TRUE +ENSG00000170558.9 . BCM GRCh38.p13 chr18 28011953 28011953 + A A T Missense_Mutation SNP ENST00000269141.8 exon4 c.T439A p.F147I exonic ENSG00000170558.9 . nonsynonymous SNV ENSG00000170558.9:ENST00000269141.8:exon4:c.T439A:p.F147I 18q12.1 C3L-00581 . . . . . . . . . 0.20 T T B B N N N T N 0.278 T T T 0.120 0.247 0.653 0.409 T T T T T T -0.349 0.246 0.592 N N -2.119 0.005 -2.168 0.006 1.000 0.707 0.574 0.693 0.714 . 5.930 -10.200 -0.558 -3.741 -1.635 0.000 0.000 0.008 952 . . . . CDH2 186 0 158 37 0.18974358974359 TRUE TRUE +ENSG00000099625.13 . BCM GRCh38.p13 chr19 1229181 1229181 + A A C Nonstop_Mutation SNP ENST00000650044.1 exon10 c.T2116G p.X706E exonic ENSG00000099625.13 . stoploss ENSG00000099625.13:ENST00000650044.1:exon10:c.T2116G:p.X706E 19p13.3 C3L-00581 . . . . . . . . . 2.4 . . . . . D . . . 0.004 . . . . . . . . . T T . . 1.396 15.050 0.756 D . -0.100 2.176 -0.146 1.922 1.000 0.091 0.094 0.129 0.129 0.631 3.770 3.770 1.803 1.054 0.563 0.016 0.833 0.225 970 . . . . CBARP 49 0 31 9 0.225 TRUE TRUE +ENSG00000141985.9 . BCM GRCh38.p13 chr19 4365568 4365568 + T T C Missense_Mutation SNP ENST00000269886.7 exon4 c.A245G p.K82R exonic ENSG00000141985.9 . nonsynonymous SNV ENSG00000141985.9:ENST00000269886.7:exon4:c.A245G:p.K82R 19p13.3 C3L-00581 . . . . . . . . . 8.20 T T D P U D M T N 0.463 T T D 0.257 0.626 0.716 0.832 T T T T D D 3.249 24.000 0.997 D D 0.578 5.704 0.534 5.483 1.000 0.722 0.702 0.699 0.711 . 4.130 4.130 7.961 1.133 0.646 1.000 0.965 0.675 878 BAR_domain . . . SH3GL1 482 0 432 100 0.18796992481203 TRUE TRUE +ENSG00000105376.5 . BCM GRCh38.p13 chr19 10294175 10294175 + A A G Missense_Mutation SNP ENST00000221980.5 exon8 c.A1847G p.E616G exonic ENSG00000105376.5 . nonsynonymous SNV ENSG00000105376.5:ENST00000221980.5:exon8:c.A1847G:p.E616G 19p13.2 C3L-00581 . . . . . . . . . 4.20 D D B B N N M T N 0.325 T T D 0.066 0.361 0.320 . T T T T T T 2.656 22.700 0.996 N N -0.629 0.935 -0.596 1.052 1.000 0.677 0.608 0.673 0.639 . 5.200 4.170 1.585 1.182 0.724 0.002 0.518 0.838 608 Immunoglobulin_subtype . . . ICAM5 147 0 122 24 0.164383561643836 TRUE TRUE +ENSG00000198597.9 . BCM GRCh38.p13 chr19 30444025 30444025 + G G C Missense_Mutation SNP ENST00000355537.4 exon2 c.G463C p.E155Q exonic ENSG00000198597.9 . nonsynonymous SNV ENSG00000198597.9:ENST00000355537.4:exon2:c.G463C:p.E155Q 19q12 C3L-00581 . . . . . . . . . 11.20 D D D D D D L T N 0.653 T T T 0.326 0.409 0.379 1.871 D T T T D D 4.077 27.600 0.998 D D 0.850 9.847 0.859 12.099 1.000 0.487 0.574 0.578 0.613 . 5.670 5.670 9.994 1.100 0.590 1.000 1.000 0.998 776 Zinc_finger_C2H2-type . . . ZNF536 358 0 322 73 0.184810126582278 TRUE TRUE +ENSG00000198453.13 . BCM GRCh38.p13 chr19 36925238 36925238 + G G C Missense_Mutation SNP ENST00000333987.12 exon4 c.G115C p.E39Q exonic ENSG00000198453.13 . nonsynonymous SNV ENSG00000198453.13:ENST00000333987.12:exon4:c.G115C:p.E39Q 19q13.12 C3L-00581 . . . . . . . . . 5.19 T D D P . D N T N 0.230 T T T 0.081 0.222 0.565 0.227 T T T T D T 3.229 23.900 0.995 D N 0.141 3.050 0.196 3.163 0.003 0.638 0.670 0.653 0.655 . 3.890 3.890 3.364 1.166 0.665 1.000 0.999 0.952 689 . . . . ZNF568 149 0 147 26 0.15028901734104 TRUE TRUE +ENSG00000198440.9 . BCM GRCh38.p13 chr19 56424020 56424020 + T T G Missense_Mutation SNP ENST00000333201.13 exon5 c.T1362G p.H454Q exonic ENSG00000198440.9 . nonsynonymous SNV ENSG00000198440.9:ENST00000333201.13:exon5:c.T1362G:p.H454Q 19q13.43 C3L-00581 . . . . . . . . . 15.20 D D D D D D H D D 0.593 D D D 0.648 0.749 0.894 1.446 T T D D D T 2.046 19.600 0.992 N N -0.101 2.173 -0.333 1.498 0.009 0.566 0.588 0.574 0.674 . 4.510 -1.330 -0.914 1.066 0.580 0.000 0.941 0.394 988 Zinc_finger_C2H2-type . . . ZNF583 148 0 118 42 0.2625 TRUE TRUE +ENSG00000125772.14 . BCM GRCh38.p13 chr20 5547839 5547839 + C C T Nonsense_Mutation SNP ENST00000379019.7 exon20 c.G1841A p.W614X exonic ENSG00000125772.14 . stopgain ENSG00000125772.14:ENST00000379019.7:exon20:c.G1841A:p.W614X 20p12.3 C3L-00581 1.688e-05 0.0002 0 0 0 0 0 0 rs192456172 4.6 . . . . N D . . . 0.204 . . . . . . . . . D D . . 8.973 46 0.994 D N 0.971 13.028 0.829 11.043 0.059 0.672 0.702 0.659 0.636 . 5.780 4.780 2.113 1.026 0.599 1.000 1.000 0.999 632 Glycerophosphodiester_phosphodiesterase_domain . . . GPCPD1 46 0 27 9 0.25 TRUE NA +ENSG00000088930.8 . BCM GRCh38.p13 chr20 21340743 21340743 + C C A Missense_Mutation SNP ENST00000377191.5 exon15 c.C1301A p.P434H exonic ENSG00000088930.8 . nonsynonymous SNV ENSG00000088930.8:ENST00000377191.5:exon15:c.C1301A:p.P434H 20p11.22 C3L-00581 . . . . . . . . . 8.20 T D B B D D M T D 0.508 T T T 0.126 0.244 0.068 0.362 T T T T D T 3.102 23.600 0.992 D D 0.153 3.100 0.289 3.653 1.000 0.737 0.725 0.733 0.728 . 4.990 4.990 6.373 1.026 0.549 1.000 1.000 0.996 429 . . . . XRN2 108 1 96 27 0.219512195121951 TRUE TRUE +ENSG00000167104.11 . BCM GRCh38.p13 chr20 33036519 33036519 + A A G Missense_Mutation SNP ENST00000349552.1 exon7 c.A652G p.I218V exonic ENSG00000167104.11 . nonsynonymous SNV ENSG00000167104.11:ENST00000349552.1:exon7:c.A652G:p.I218V 20q11.21 C3L-00581 . . . . . . . . . 0.20 T T B B N N L T N 0.075 T T T 0.067 0.580 0.030 0.046 T T T T T T 1.186 13.530 0.938 N N -0.434 1.309 -0.406 1.362 0.001 0.487 0.590 0.574 0.564 . 4.650 0.973 0.818 1.308 0.750 0.967 0.999 0.913 102 . . . . BPIFB6 208 0 201 34 0.14468085106383 TRUE TRUE +ENSG00000203880.12 . BCM GRCh38.p13 chr20 64273227 64273227 + T T A Missense_Mutation SNP ENST00000308824.11 exon6 c.T713A p.V238E exonic ENSG00000203880.12 . nonsynonymous SNV ENSG00000203880.12:ENST00000308824.11:exon6:c.T713A:p.V238E 20q13.33 C3L-00581 . . . . . . . . . 3.20 T T B B N N L T D 0.217 T T T 0.077 0.517 0.487 1.031 T T T T T D 1.749 17.370 0.974 D N -0.470 1.237 -0.422 1.333 0.001 0.732 0.709 0.710 0.728 . 5.410 1.310 2.799 0.200 0.665 0.992 0.189 0.794 . . . . . PCMTD2 71 0 80 15 0.157894736842105 TRUE TRUE +ENSG00000099910.17 . BCM GRCh38.p13 chr22 20471482 20471482 + T T - Frame_Shift_Del DEL ENST00000328879.9 exon3 c.261delA p.E87Dfs*6 exonic ENSG00000099910.17 . frameshift deletion ENSG00000099910.17:ENST00000328879.9:exon3:c.261delA:p.E87Dfs*6 22q11.21 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL22 118 1 110 25 0.185185185185185 TRUE TRUE +ENSG00000077935.17 . BCM GRCh38.p13 chr22 45402428 45402428 + T T G Missense_Mutation SNP ENST00000357450.9 exon5 c.A759C p.R253S exonic ENSG00000077935.17 . nonsynonymous SNV ENSG00000077935.17:ENST00000357450.9:exon5:c.A759C:p.R253S 22q13.31 C3L-00581 . . . . . . . . . 4.15 D T . . D N . T N 0.205 T T D 0.235 0.504 0.246 0.315 T . T T T . 2.446 22.300 0.974 D N -0.555 1.071 -0.388 1.394 0.002 0.487 0.574 0.547 0.542 . 5.900 4.860 0.783 0.197 0.665 1.000 0.237 0.075 973 . . . . SMC1B 149 0 115 27 0.190140845070423 TRUE TRUE +ENSG00000085185.15 . BCM GRCh38.p13 chrX 130015820 130015820 + C C - Frame_Shift_Del DEL ENST00000540052.5 exon3 c.3048delC p.H1017Tfs*33 exonic ENSG00000085185.15 . frameshift deletion ENSG00000085185.15:ENST00000540052.5:exon3:c.3048delC:p.H1017Tfs*33 Xq26.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCORL1 91 0 87 8 0.0842105263157895 TRUE TRUE +ENSG00000117523.16 . BCM GRCh38.p13 chr1 171591586 171591586 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000117523.16 ENST00000367742.7:exon34:c.8200-1G>A . . 1q24.3 C3L-00581 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.089 35 0.995 D . 1.250 29.293 1.119 29.379 1.000 0.295 0.304 0.320 0.221 0.977 5.790 5.790 9.207 1.175 0.618 1.000 1.000 1.000 576 . . . . PRRC2C 76 0 68 17 0.2 TRUE TRUE +ENSG00000145725.19 . BCM GRCh38.p13 chr5 103138470 103138475 + GTAAGA GTAAGA - Splice_Site DEL NA NA NA NA splicing ENSG00000145725.19 . . . 5q21.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPIP5K2 60 0 60 10 0.142857142857143 TRUE TRUE +ENSG00000137501.17 . BCM GRCh38.p13 chr11 85734744 85734744 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000137501.17 ENST00000528231.5:exon6:c.584-2A>G . . 11q14.1 C3L-00581 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.995 33 0.994 D . 1.012 14.312 0.856 12.008 0.999 0.054 0.060 0.063 0.063 0.952 5.540 5.540 3.621 1.138 0.665 1.000 0.998 0.958 431 . . . . SYTL2 53 0 63 14 0.181818181818182 TRUE TRUE +ENSG00000132024.17 . BCM GRCh38.p13 chr19 13926819 13926819 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000132024.17 ENST00000318003.11:exon20:c.2074-2A>G . . 19p13.12 C3L-00581 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.060 33 0.995 D . 0.971 13.042 0.771 9.329 1.000 0.295 0.304 0.232 0.120 0.775 4.930 4.930 8.179 1.207 0.756 1.000 0.664 0.436 929 . . . . CC2D1A 209 0 173 45 0.206422018348624 TRUE TRUE +ENSG00000048707.15 . BCM GRCh38.p13 chr1 12277758 12277758 + G G A Silent SNP ENST00000620676.6 exon19 c.G4170A p.R1390R exonic ENSG00000048707.15 . synonymous SNV ENSG00000048707.15:ENST00000620676.6:exon19:c.G4170A:p.R1390R 1p36.22 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS13D 142 0 96 32 0.25 TRUE TRUE +ENSG00000215695.1 . BCM GRCh38.p13 chr1 15660777 15660777 + T T C Silent SNP ENST00000345034.1 exon1 c.T909C p.D303D exonic ENSG00000215695.1 . synonymous SNV ENSG00000215695.1:ENST00000345034.1:exon1:c.T909C:p.D303D 1p36.21 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSC1A1 117 0 53 28 0.345679012345679 TRUE TRUE +ENSG00000171492.14 . BCM GRCh38.p13 chr1 89934730 89934730 + C C T Silent SNP ENST00000337338.9 exon3 c.C1662T p.A554A exonic ENSG00000171492.14 . synonymous SNV ENSG00000171492.14:ENST00000337338.9:exon3:c.C1662T:p.A554A 1p22.2 C3L-00581 3.302e-05 0 0 0 0 0 0 0.0002 rs574691834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC8D 120 0 92 15 0.14018691588785 TRUE NA +ENSG00000189350.12 . BCM GRCh38.p13 chr2 29036600 29036600 + G G A Silent SNP ENST00000379558.4 exon18 c.G2478A p.A826A exonic ENSG00000189350.12 . synonymous SNV ENSG00000189350.12:ENST00000379558.4:exon18:c.G2478A:p.A826A 2p23.2 C3L-00581 9.061e-05 0 0 0.0012 0 1.498e-05 0 0 rs372465003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOGARAM2 263 0 274 63 0.186943620178042 TRUE NA +ENSG00000065485.20 . BCM GRCh38.p13 chr3 123130513 123130513 + T T C Silent SNP ENST00000316218.12 exon11 c.T807C p.T269T exonic ENSG00000065485.20 . synonymous SNV ENSG00000065485.20:ENST00000316218.12:exon11:c.T807C:p.T269T 3q21.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDIA5 107 0 112 25 0.182481751824818 TRUE TRUE +ENSG00000084093.18 . BCM GRCh38.p13 chr4 56910818 56910818 + C C T Silent SNP ENST00000309042.12 exon2 c.C180T p.G60G exonic ENSG00000084093.18 . synonymous SNV ENSG00000084093.18:ENST00000309042.12:exon2:c.C180T:p.G60G 4q12 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REST 129 1 106 24 0.184615384615385 TRUE TRUE +ENSG00000112984.12 . BCM GRCh38.p13 chr5 138182617 138182617 + G G A Silent SNP ENST00000394894.8 exon6 c.G546A p.R182R exonic ENSG00000112984.12 . synonymous SNV ENSG00000112984.12:ENST00000394894.8:exon6:c.G546A:p.R182R 5q31.2 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF20A 167 0 208 31 0.129707112970711 TRUE NA +ENSG00000188394.6 . BCM GRCh38.p13 chr9 123035577 123035577 + A A G Silent SNP ENST00000373642.1 exon1 c.A1011G p.T337T exonic ENSG00000188394.6 . synonymous SNV ENSG00000188394.6:ENST00000373642.1:exon1:c.A1011G:p.T337T 9q33.2 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR21 51 0 41 8 0.163265306122449 TRUE NA +ENSG00000184363.10 . BCM GRCh38.p13 chr11 397188 397188 + G G T Silent SNP ENST00000331563.7 exon3 c.G687T p.L229L exonic ENSG00000184363.10 . synonymous SNV ENSG00000184363.10:ENST00000331563.7:exon3:c.G687T:p.L229L 11p15.5 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKP3 271 1 185 42 0.185022026431718 TRUE TRUE +ENSG00000053918.18 . BCM GRCh38.p13 chr11 2847838 2847838 + C C A Silent SNP ENST00000155840.12 exon16 c.C1866A p.G622G exonic ENSG00000053918.18 . synonymous SNV ENSG00000053918.18:ENST00000155840.12:exon16:c.C1866A:p.G622G 11p15.4 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNQ1 133 0 121 31 0.203947368421053 TRUE TRUE +ENSG00000184478.7 . BCM GRCh38.p13 chr11 5947628 5947628 + G G A Silent SNP ENST00000641905.1 exon4 c.G282A p.R94R exonic ENSG00000184478.7 . synonymous SNV ENSG00000184478.7:ENST00000641905.1:exon4:c.G282A:p.R94R 11p15.4 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR56A3 338 0 305 37 0.108187134502924 TRUE TRUE +ENSG00000175727.14 . BCM GRCh38.p13 chr12 122140975 122140975 + C C T Silent SNP ENST00000319080.12 exon16 c.C2530T p.L844L exonic ENSG00000175727.14 . synonymous SNV ENSG00000175727.14:ENST00000319080.12:exon16:c.C2530T:p.L844L 12q24.31 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MLXIP 175 1 122 33 0.212903225806452 TRUE TRUE +ENSG00000213918.10 . BCM GRCh38.p13 chr16 3656695 3656695 + C C T Silent SNP ENST00000407479.5 exon6 c.C378T p.C126C exonic ENSG00000213918.10 . synonymous SNV ENSG00000213918.10:ENST00000407479.5:exon6:c.C378T:p.C126C 16p13.3 C3L-00581 2.906e-05 0 0 0 0 3.519e-05 0 7.157e-05 rs780408465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNASE1 436 2 413 92 0.182178217821782 TRUE NA +ENSG00000007216.15 . BCM GRCh38.p13 chr17 28489264 28489264 + T T C Silent SNP ENST00000314669.10 exon2 c.T153C p.T51T exonic ENSG00000007216.15 . synonymous SNV ENSG00000007216.15:ENST00000314669.10:exon2:c.T153C:p.T51T 17q11.2 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC13A2 154 1 137 30 0.179640718562874 TRUE TRUE +ENSG00000182742.6 . BCM GRCh38.p13 chr17 48578263 48578263 + T T G Silent SNP ENST00000332503.6 exon1 c.A57C p.P19P exonic ENSG00000182742.6 . synonymous SNV ENSG00000182742.6:ENST00000332503.6:exon1:c.A57C:p.P19P 17q21.32 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXB4 378 1 358 72 0.167441860465116 TRUE NA +ENSG00000125449.7 . BCM GRCh38.p13 chr17 75128903 75128903 + C C T Silent SNP ENST00000245543.6 exon3 c.C462T p.A154A exonic ENSG00000125449.7 . synonymous SNV ENSG00000125449.7:ENST00000245543.6:exon3:c.C462T:p.A154A 17q25.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARMC7 264 0 238 56 0.19047619047619 TRUE TRUE +ENSG00000129657.16 . BCM GRCh38.p13 chr17 77213934 77213934 + C C T Silent SNP ENST00000436233.9 exon17 c.C2059T p.L687L exonic ENSG00000129657.16 . synonymous SNV ENSG00000129657.16:ENST00000436233.9:exon17:c.C2059T:p.L687L 17q25.3 C3L-00581 1.674e-05 0 0 0 0 3.049e-05 0 0 rs377362452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66722401;OCCURENCE=1(skin) SEC14L1 97 0 105 26 0.198473282442748 TRUE TRUE +ENSG00000198028.4 . BCM GRCh38.p13 chr19 9470426 9470426 + C C G Silent SNP ENST00000301480.5 exon7 c.G414C p.V138V exonic ENSG00000198028.4 . synonymous SNV ENSG00000198028.4:ENST00000301480.5:exon7:c.G414C:p.V138V 19p13.2 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF560 80 0 99 15 0.131578947368421 TRUE NA +ENSG00000186716.21 . BCM GRCh38.p13 chr22 23182124 23182124 + C C T Silent SNP ENST00000305877.13 exon1 c.C1164T p.C388C exonic ENSG00000186716.21 . synonymous SNV ENSG00000186716.21:ENST00000305877.13:exon1:c.C1164T:p.C388C 22q11.23 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCR 211 0 188 35 0.15695067264574 TRUE TRUE +ENSG00000125089.17 . BCM GRCh38.p13 chr4 8215189 8215189 + C C G Intron SNP NA NA NA NA intronic ENSG00000125089.17 . . . 4p16.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SH3TC1 174 1 177 32 0.15311004784689 TRUE NA +ENSG00000138796.17 . BCM GRCh38.p13 chr4 108004868 108004868 + G G C Intron SNP NA NA NA NA intronic ENSG00000138796.17 . . . 4q25 C3L-00581 . . . . . . . . . 1.11 . T . . . N . . . 0.310 T T D 0.137 0.540 0.614 . . . T T T T 1.223 13.810 0.471 N N -0.726 0.769 -0.817 0.735 1.000 0.554 0.588 0.573 0.613 . 2.650 0.871 0.643 0.182 0.610 0.748 0.005 0.914 934 . . . . HADH 160 0 196 22 0.100917431192661 TRUE TRUE +ENSG00000077782.21 . BCM GRCh38.p13 chr8 38421669 38421669 + G G A Intron SNP NA NA NA NA intronic ENSG00000077782.21 . . . 8p11.23 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FGFR1 66 0 69 4 0.0547945205479452 TRUE NA +ENSG00000111652.10 . BCM GRCh38.p13 chr12 6727674 6727688 + AGGAATTGGATGACG AGGAATTGGATGACG - Intron DEL NA NA NA NA intronic ENSG00000111652.10 . . . 12p13.31 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COPS7A 137 0 160 18 0.101123595505618 TRUE NA +ENSG00000221923.9 . BCM GRCh38.p13 chr19 52379511 52379511 + T T C Intron SNP NA NA NA NA intronic ENSG00000221923.9 . . . 19q13.41 C3L-00581 . . . . . . . . . 1.14 D T . . . N . T N 0.128 T T T 0.038 0.432 0.188 . . . T T T T 0.276 4.013 0.197 N N -0.692 0.827 -0.929 0.582 0.000 0.732 0.588 0.744 0.492 . 0.474 0.474 0.198 0.295 0.435 0.002 0.001 0.001 988 . . . . ZNF880 56 0 51 6 0.105263157894737 TRUE NA +ENSG00000205581.11 . BCM GRCh38.p13 chr21 39349475 39349475 + C C G 5'Flank SNP NA NA NA NA upstream ENSG00000205581.11 dist=387 . . 21q22.2 C3L-00581 . . . . . . . . . 1.14 T T . . . N . . N 0.197 T T T 0.033 0.276 0.259 . . T T T T T 0.858 9.982 0.694 D N -0.385 1.415 -0.541 1.136 1.000 0.407 0.166 0.179 0.273 . 2.940 2.940 1.772 0.829 0.599 0.005 0.002 0.007 970 . . . . HMGN1 137 0 115 20 0.148148148148148 TRUE TRUE +ENSG00000127954.12 . BCM GRCh38.p13 chr7 88284092 88284093 + TG TG CT Unknown MNP ENST00000380079.8 exon2 c.177_178delinsAG p.S60G exonic ENSG00000127954.12 . nonframeshift substitution ENSG00000127954.12:ENST00000380079.8:exon2:c.177_178delinsAG:p.S60G 7q21.12 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STEAP4 169 0 200 48 0.193548387096774 TRUE NA +ENSG00000147854.17 . BCM GRCh38.p13 chr9 6498060 6498061 + TT TT CG Unknown MNP ENST00000276893.10 exon12 c.1810_1811delinsCG p.L604R exonic ENSG00000147854.17 . nonframeshift substitution ENSG00000147854.17:ENST00000276893.10:exon12:c.1810_1811delinsCG:p.L604R 9p24.1 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UHRF2 141 0 140 39 0.217877094972067 TRUE TRUE +ENSG00000165283.16 . BCM GRCh38.p13 chr9 35102159 35102160 + GA GA TT Unknown MNP ENST00000356493.10 exon3 c.218_219delinsAA p.I73K exonic ENSG00000165283.16 . nonframeshift substitution ENSG00000165283.16:ENST00000356493.10:exon3:c.218_219delinsAA:p.I73K 9p13.3 C3L-00581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STOML2 136 0 140 19 0.119496855345912 TRUE TRUE +ENSG00000121904.17 . BCM GRCh38.p13 chr1 33622238 33622238 + G G T Missense_Mutation SNP ENST00000373388.6 exon37 c.C5636A p.S1879Y exonic ENSG00000121904.17 . nonsynonymous SNV ENSG00000121904.17:ENST00000373388.6:exon37:c.C5636A:p.S1879Y 1p35.1 C3L-00583 . . . . . . . . . 17.20 D D D D D D M T D 0.932 D T D 0.751 0.693 0.819 . D T D D D D 4.099 27.700 0.995 D D 0.973 13.109 0.949 16.003 1.000 0.706 0.590 0.710 0.564 . 5.750 5.750 9.697 1.176 0.676 1.000 1.000 0.999 469 CUB_domain . . . CSMD2 212 1 169 50 0.228310502283105 TRUE TRUE +ENSG00000154451.14 . BCM GRCh38.p13 chr1 89264775 89264775 + G G C Missense_Mutation SNP ENST00000370459.7 exon7 c.C1060G p.L354V exonic ENSG00000154451.14 . nonsynonymous SNV ENSG00000154451.14:ENST00000370459.7:exon7:c.C1060G:p.L354V 1p22.2 C3L-00583 . . . . . . . . . 2.20 T T B B D N L T N 0.165 T T T 0.041 0.410 0.184 . T T T T T T 0.726 8.696 0.567 D N -0.410 1.362 -0.326 1.511 1.000 0.638 0.670 0.547 0.613 . 4.960 2.930 -0.135 0.215 -0.126 0.002 0.320 0.004 448 Guanylate-binding_protein/Atlastin,_C-terminal;Guanylate-binding_protein,_C-terminal . . . GBP5 327 0 245 79 0.243827160493827 TRUE TRUE +ENSG00000198700.10 . BCM GRCh38.p13 chr1 201848469 201848469 + A A G Missense_Mutation SNP ENST00000361565.9 exon4 c.A389G p.Y130C exonic ENSG00000198700.10 . nonsynonymous SNV ENSG00000198700.10:ENST00000361565.9:exon4:c.A389G:p.Y130C 1q32.1 C3L-00583 . . . . . . . . . 17.20 D D D D D D M T D 0.742 T T D 0.591 0.403 0.661 1.729 D D D D D D 4.271 29.300 0.998 D D 0.781 8.421 0.805 10.285 1.000 0.722 0.725 0.725 0.735 . 6.020 6.020 9.224 1.312 0.756 1.000 1.000 0.998 293 . . . . IPO9 492 0 372 148 0.284615384615385 TRUE TRUE +ENSG00000196208.14 . BCM GRCh38.p13 chr2 11632933 11632933 + G G A Missense_Mutation SNP ENST00000381486.7 exon28 c.G4861A p.E1621K exonic ENSG00000196208.14 . nonsynonymous SNV ENSG00000196208.14:ENST00000381486.7:exon28:c.G4861A:p.E1621K 2p25.1 C3L-00583 . . . . . . . . . 13.20 D D P P D D M T D 0.941 T T D 0.489 0.385 0.755 1.536 T T D D D D 4.276 29.400 0.999 D D 0.729 7.543 0.745 8.681 1.000 0.707 0.590 0.725 0.542 . 5.390 5.390 9.379 1.176 0.671 1.000 0.999 0.996 958 . . . . GREB1 164 0 142 64 0.310679611650485 TRUE TRUE +ENSG00000075568.17 . BCM GRCh38.p13 chr2 97792694 97792694 + T T A Missense_Mutation SNP ENST00000186436.10 exon31 c.A3836T p.K1279M exonic ENSG00000075568.17 . nonsynonymous SNV ENSG00000075568.17:ENST00000186436.10:exon31:c.A3836T:p.K1279M 2q11.2 C3L-00583 . . . . . . . . . 7.20 D D D P N D L T D 0.445 T T T 0.056 0.300 0.068 0.617 T T T T D T 3.640 25.200 0.995 D N 0.278 3.669 0.317 3.816 0.730 0.706 0.702 0.710 0.714 . 6.170 3.850 1.846 1.138 0.665 1.000 0.992 0.993 459 . . . . TMEM131 217 0 164 60 0.267857142857143 TRUE TRUE +ENSG00000072195.15 . BCM GRCh38.p13 chr2 219484737 219484737 + G G C Missense_Mutation SNP ENST00000312358.12 exon30 c.G7274C p.R2425P exonic ENSG00000072195.15 . nonsynonymous SNV ENSG00000072195.15:ENST00000312358.12:exon30:c.G7274C:p.R2425P 2q35 C3L-00583 . . . . . . . . . 10.20 D D B B N D M T D 0.374 T T D 0.344 0.315 0.766 1.976 D T T T D T 3.490 24.700 0.974 D D -0.254 1.730 -0.094 2.063 1.000 0.598 0.563 0.504 0.639 . 4.740 3.840 5.700 1.088 0.588 1.000 0.987 0.985 108 . . . . SPEG 110 0 84 42 0.333333333333333 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146516 10146516 + C C T Missense_Mutation SNP ENST00000256474.3 exon2 c.C343T p.H115Y exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.C343T:p.H115Y 3p25.3 C3L-00583 . . . . . . . . rs5030811 19.19 . D D D D D M D D 0.984 D D D 0.918 0.958 0.999 0.841 D D D D D D 3.885 26.300 0.997 D D 0.665 6.662 0.574 5.908 1.000 0.732 0.686 0.744 0.735 . 5.070 5.070 6.095 1.026 0.599 1.000 1.000 0.995 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56545369;OCCURENCE=17(kidney),1(pancreas),1(skin) VHL 345 0 155 116 0.428044280442804 TRUE TRUE +ENSG00000182179.13 . BCM GRCh38.p13 chr3 49805983 49805983 + C C A Missense_Mutation SNP ENST00000333486.4 exon23 c.G2823T p.L941F exonic ENSG00000182179.13 . nonsynonymous SNV ENSG00000182179.13:ENST00000333486.4:exon23:c.G2823T:p.L941F 3p21.31 C3L-00583 . . . . . . . . rs865842611 9.20 D D D D D N M T D 0.432 T T D 0.116 0.743 0.459 0.818 T T T T D T 2.933 23.300 0.997 N N 0.078 2.800 -0.129 1.967 1.000 0.609 0.522 0.769 0.373 . 5.300 3.360 1.891 1.018 0.589 0.110 0.464 0.669 2 Ubiquitin-activating_enzyme_E1,_C-terminal . . . UBA7 199 1 185 16 0.0796019900497512 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609616 52609616 + A A T Missense_Mutation SNP ENST00000296302.11 exon16 c.T2264A p.V755D exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon16:c.T2264A:p.V755D 3p21.1 C3L-00583 . . . . . . . . . 17.20 D D D D D D M T D 0.919 T T D 0.570 0.725 0.834 1.612 D D D D D D 4.137 28.100 0.985 D D 0.840 9.607 0.859 12.117 1.000 0.707 0.725 0.725 0.714 . 6.170 6.170 9.294 1.312 0.756 1.000 0.995 0.997 27 Protein_polybromo-1,_Bromodomain_5;Bromodomain . . . PBRM1 92 0 50 37 0.425287356321839 TRUE TRUE +ENSG00000125089.17 . BCM GRCh38.p13 chr4 8219493 8219493 + C C T Missense_Mutation SNP ENST00000245105.8 exon9 c.C1075T p.R359W exonic ENSG00000125089.17 . nonsynonymous SNV ENSG00000125089.17:ENST00000245105.8:exon9:c.C1075T:p.R359W 4p16.1 C3L-00583 0.0011 0 0 0.0001 0 0.0020 0 0 rs138612545 5.20 D D D P N N M T D 0.501 T T T 0.098 . 0.415 0.149 T T T T T T 2.773 23.000 0.998 N N -0.078 2.247 -0.263 1.643 0.999 0.672 0.702 0.578 0.711 . 4.030 0.500 0.519 0.021 0.549 0.520 0.128 0.078 994 SH3_domain . . ID=COSV104549530;OCCURENCE=1(skin) SH3TC1 71 0 77 5 0.0609756097560976 TRUE NA +ENSG00000109163.7 . BCM GRCh38.p13 chr4 67740598 67740598 + T T A Missense_Mutation SNP ENST00000226413.5 exon3 c.A869T p.Y290F exonic ENSG00000109163.7 . nonsynonymous SNV ENSG00000109163.7:ENST00000226413.5:exon3:c.A869T:p.Y290F 4q13.2 C3L-00583 . . . . . . . . . 14.19 D T D D N D . T D 0.528 D D D 0.631 0.635 0.762 0.340 T D D D D T 4.008 27.000 0.987 D D 0.701 7.137 0.705 7.847 1.000 0.554 0.547 0.618 0.621 . 5.430 5.430 7.915 1.118 0.609 1.000 1.000 1.000 938 GPCR,_rhodopsin-like,_7TM . . . GNRHR 215 0 174 61 0.259574468085106 TRUE TRUE +ENSG00000151388.11 . BCM GRCh38.p13 chr5 33576166 33576166 + T T G Missense_Mutation SNP ENST00000504830.6 exon19 c.A3860C p.E1287A exonic ENSG00000151388.11 . nonsynonymous SNV ENSG00000151388.11:ENST00000504830.6:exon19:c.A3860C:p.E1287A 5p13.3 C3L-00583 . . . . . . . . . 2.20 T T P B N N M T N 0.325 T T T 0.146 0.190 0.719 0.160 T T T T T T 2.552 22.500 0.983 D N 0.130 3.005 0.250 3.441 0.997 0.638 0.670 0.659 0.621 . 5.470 5.470 4.234 1.055 0.665 0.952 0.978 0.914 900 . . . . ADAMTS12 285 1 242 93 0.277611940298507 TRUE NA +ENSG00000039123.16 . BCM GRCh38.p13 chr5 55340051 55340054 + TATT TATT - Frame_Shift_Del DEL ENST00000230640.10 exon6 c.557_560del p.F187Pfs*7 exonic ENSG00000039123.16 . frameshift deletion ENSG00000039123.16:ENST00000230640.10:exon6:c.557_560del:p.F187Pfs*7 5q11.2 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTREX 98 0 61 27 0.306818181818182 TRUE TRUE +ENSG00000113593.12 . BCM GRCh38.p13 chr5 65567569 65567569 + C C T Missense_Mutation SNP ENST00000261308.10 exon2 c.C253T p.R85C exonic ENSG00000113593.12 . nonsynonymous SNV ENSG00000113593.12:ENST00000261308.10:exon2:c.C253T:p.R85C 5q12.3 C3L-00583 8.261e-06 0 8.684e-05 0 0 0 0 0 rs550297856 19.20 D D D D D D M D D 0.763 D D D 0.560 0.402 0.957 1.109 D T D D D D 4.234 29.000 0.999 D D 0.822 9.220 0.785 9.703 1.000 0.732 0.744 0.710 0.728 . 5.620 5.620 4.510 1.026 0.599 1.000 1.000 1.000 817 . . . ID=COSV54333431;OCCURENCE=1(large_intestine),1(endometrium) PPWD1 154 0 127 31 0.19620253164557 TRUE TRUE +ENSG00000113161.16 . BCM GRCh38.p13 chr5 75342746 75342746 + T T G Missense_Mutation SNP ENST00000287936.9 exon2 c.T141G p.N47K exonic ENSG00000113161.16 . nonsynonymous SNV ENSG00000113161.16:ENST00000287936.9:exon2:c.T141G:p.N47K 5q13.3 C3L-00583 . . . . . . . . . 15.20 T D P P D D M D D 0.802 D D D 0.496 0.496 0.605 1.723 T D D T D D 2.715 22.900 0.927 D D 0.174 3.188 0.258 3.479 1.000 0.737 0.663 0.733 0.735 . 5.620 5.620 2.460 1.138 0.609 1.000 1.000 0.999 915 . . . . HMGCR 134 0 132 48 0.266666666666667 TRUE TRUE +ENSG00000120324.9 . BCM GRCh38.p13 chr5 141194493 141194493 + T T A Missense_Mutation SNP ENST00000239446.6 exon1 c.T1941A p.N647K exonic ENSG00000120324.9 . nonsynonymous SNV ENSG00000120324.9:ENST00000239446.6:exon1:c.T1941A:p.N647K 5q31.3 C3L-00583 . . . . . . . . . 9.19 D D D D . D M T D 0.382 T T T 0.162 0.536 0.698 . T T T T D D 2.117 20.200 0.993 N N -0.293 1.630 -0.560 1.107 0.005 0.554 0.574 0.602 0.621 . 3.030 -3.120 -0.494 0.127 0.464 0.026 0.171 0.060 671 Cadherin-like . . . PCDHB10 706 0 521 239 0.314473684210526 NA TRUE +ENSG00000111846.18 . BCM GRCh38.p13 chr6 10529174 10529174 + T T C Missense_Mutation SNP ENST00000495262.7 exon3 c.T263C p.L88P exonic ENSG00000111846.18 . nonsynonymous SNV ENSG00000111846.18:ENST00000495262.7:exon3:c.T263C:p.L88P 6p24.3 C3L-00583 8.238e-06 0 0 0.0001 0 0 0 0 rs143453847 9.16 . D P P D D M T D 0.900 T T D 0.256 0.499 0.525 0.089 . T T D D . 3.793 25.800 0.999 D . 0.412 4.420 0.375 4.185 1.000 0.628 0.484 0.602 0.658 . 5.430 5.430 4.461 1.138 0.665 0.997 0.704 0.876 856 . . . . GCNT2 461 0 347 167 0.324902723735409 TRUE NA +ENSG00000204301.6 . BCM GRCh38.p13 chr6 32217159 32217159 + G G A Missense_Mutation SNP ENST00000375023.3 exon10 c.C1732T p.L578F exonic ENSG00000204301.6 . nonsynonymous SNV ENSG00000204301.6:ENST00000375023.3:exon10:c.C1732T:p.L578F 6p21.32 C3L-00583 . . . . . . . . . 7.20 T T B B N N M D N 0.348 D D D 0.384 0.427 0.969 0.742 T T T T D T 2.207 20.900 0.998 D N 0.131 3.012 0.137 2.892 0.050 0.707 0.563 0.547 0.714 . 4.030 4.030 -0.045 1.176 0.676 0.000 0.996 0.853 934 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . NOTCH4 140 0 140 51 0.267015706806283 TRUE TRUE +ENSG00000112706.12 . BCM GRCh38.p13 chr6 75950624 75950624 + T T G Missense_Mutation SNP ENST00000369950.8 exon13 c.A1762C p.N588H exonic ENSG00000112706.12 . nonsynonymous SNV ENSG00000112706.12:ENST00000369950.8:exon13:c.A1762C:p.N588H 6q14.1 C3L-00583 . . . . . . . . . 0.20 T T B B N N L T N 0.236 T T T 0.053 0.425 0.278 0.062 T T T T T T 1.607 16.420 0.946 N N -0.983 0.423 -1.030 0.453 0.000 0.526 0.574 0.616 0.530 . 5.870 -0.902 1.201 -0.786 -0.716 0.326 0.062 0.103 422 SEA_domain . . . IMPG1 158 0 86 54 0.385714285714286 TRUE TRUE +ENSG00000187258.14 . BCM GRCh38.p13 chr7 34658465 34658465 + C C T Missense_Mutation SNP ENST00000360581.6 exon1 c.C53T p.T18M exonic ENSG00000187258.14 . nonsynonymous SNV ENSG00000187258.14:ENST00000360581.6:exon1:c.C53T:p.T18M 7p14.3 C3L-00583 6.592e-05 0.0003 0 0 0 5.995e-05 0 6.057e-05 rs149663215 0.20 T T B B N N N T N 0.126 T T T 0.014 . 0.171 0.025 T T T T T T 0.064 1.792 0.689 N N -1.456 0.095 -1.458 0.125 0.005 0.487 0.574 0.658 0.564 . 4.390 0.118 -0.026 -1.924 -0.813 0.000 0.000 0.001 932 . . . ID=COSV62196370;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(thyroid) NPSR1 210 0 267 49 0.15506329113924 TRUE TRUE +ENSG00000001630.17 . BCM GRCh38.p13 chr7 92127550 92127550 + - NA T Frame_Shift_Ins NA ENST00000003100.13 exon4 c.549dupA p.E184Rfs*7 exonic ENSG00000001630.17 . frameshift insertion ENSG00000001630.17:ENST00000003100.13:exon4:c.549dupA:p.E184Rfs*7 7q21.2 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP51A1 NA NA NA NA NA NA NA +ENSG00000001630.17 . BCM GRCh38.p13 chr7 92127556 92127556 + C C T Missense_Mutation SNP ENST00000003100.13 exon4 c.G544A p.E182K exonic ENSG00000001630.17 . nonsynonymous SNV ENSG00000001630.17:ENST00000003100.13:exon4:c.G544A:p.E182K 7q21.2 C3L-00583 . . . . . . . . . 11.17 D T . . D D . T N 0.678 T D D 0.588 . 0.926 0.774 T T D D D D 4.077 27.600 0.999 D D 0.863 10.142 0.840 11.418 1.000 0.707 0.725 0.725 0.714 . 5.490 5.490 5.999 1.026 0.599 1.000 1.000 1.000 274 . . . . CYP51A1 222 0 263 70 0.21021021021021 TRUE NA +ENSG00000187260.16 . BCM GRCh38.p13 chr7 151396196 151396196 + C C A Missense_Mutation SNP ENST00000334493.11 exon3 c.G306T p.R102S exonic ENSG00000187260.16 . nonsynonymous SNV ENSG00000187260.16:ENST00000334493.11:exon3:c.G306T:p.R102S 7q36.1 C3L-00583 . . . . . . . . . 8.19 T T D D . D N T N 0.810 T T D 0.268 0.603 0.379 1.223 T T D T D T 3.416 24.500 0.994 D D -0.063 2.295 0.007 2.385 0.927 0.696 0.547 0.723 0.613 . 4.860 3.070 2.822 1.026 0.549 1.000 0.990 0.859 964 WD40-repeat-containing_domain . . . WDR86 191 0 198 64 0.244274809160305 TRUE TRUE +ENSG00000108064.11 . BCM GRCh38.p13 chr10 58386296 58386296 + T T A Missense_Mutation SNP ENST00000487519.6 exon2 c.T178A p.F60I exonic ENSG00000108064.11 . nonsynonymous SNV ENSG00000108064.11:ENST00000487519.6:exon2:c.T178A:p.F60I 10q21.1 C3L-00583 . . . . . . . . . 18.20 D D D D D D H D D 0.886 D D D 0.948 0.756 0.967 1.020 T D D D D T 3.848 26.100 0.992 D D 0.494 4.986 0.494 5.102 1.000 0.660 0.686 0.663 0.639 . 5.440 5.440 4.669 1.138 0.665 1.000 0.999 0.938 981 High_mobility_group_box_domain . . . TFAM 358 0 314 107 0.2541567695962 TRUE TRUE +ENSG00000107669.17 . BCM GRCh38.p13 chr10 121743776 121743776 + T T - Frame_Shift_Del DEL ENST00000224652.10 exon12 c.1461delA p.K487Nfs*60 exonic ENSG00000107669.17 . frameshift deletion ENSG00000107669.17:ENST00000224652.10:exon12:c.1461delA:p.K487Nfs*60 10q26.13 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATE1 162 0 133 36 0.21301775147929 TRUE TRUE +ENSG00000187726.8 . BCM GRCh38.p13 chr11 73958415 73958415 + G G C Missense_Mutation SNP ENST00000339764.5 exon2 c.G167C p.S56T exonic ENSG00000187726.8 . nonsynonymous SNV ENSG00000187726.8:ENST00000339764.5:exon2:c.G167C:p.S56T 11q13.4 C3L-00583 . . . . . . . . . 12.20 D D D D D D M T N 0.610 T T D 0.402 0.793 0.456 0.836 T T T T D D 3.937 26.600 0.996 D D 0.699 7.104 0.690 7.565 1.000 0.646 0.588 0.645 0.530 . 5.400 5.400 8.774 1.164 0.660 1.000 1.000 0.997 233 DnaJ_domain;DnaJ_domain,_conserved_site . . . DNAJB13 165 0 148 58 0.281553398058252 TRUE TRUE +ENSG00000137707.13 . BCM GRCh38.p13 chr11 111498107 111498107 + T T G Missense_Mutation SNP ENST00000356018.6 exon3 c.A202C p.K68Q exonic ENSG00000137707.13 . nonsynonymous SNV ENSG00000137707.13:ENST00000356018.6:exon3:c.A202C:p.K68Q 11q23.1 C3L-00583 . . . . . . . . . 0.19 T T B B N N L . N 0.239 T T T 0.053 0.424 0.456 0.223 T T T T T T 2.121 20.300 0.919 N N -0.217 1.830 -0.083 2.095 0.004 0.497 0.590 0.316 0.530 . 5.240 4.120 1.726 1.138 0.665 0.885 1.000 0.974 162 Anti-proliferative_protein . . . BTG4 113 0 105 55 0.34375 TRUE TRUE +ENSG00000110888.17 . BCM GRCh38.p13 chr12 30716592 30716592 + A A G Missense_Mutation SNP ENST00000298892.9 exon13 c.T2233C p.F745L exonic ENSG00000110888.17 . nonsynonymous SNV ENSG00000110888.17:ENST00000298892.9:exon13:c.T2233C:p.F745L 12p11.21 C3L-00583 . . . . . . . . . 10.19 D T P B N D M T D 0.599 D T D 0.442 0.228 0.677 0.163 T . D T D D 3.331 24.200 0.998 D N 0.289 3.721 0.325 3.863 0.997 0.719 0.634 0.725 0.734 . 4.760 4.760 4.829 1.312 0.756 1.000 1.000 0.991 958 Cytoplasmic_activation/proliferation-associated_protein-1_C_term . . . CAPRIN2 243 0 218 79 0.265993265993266 TRUE TRUE +ENSG00000076555.15 . BCM GRCh38.p13 chr12 109179280 109179280 + T T C Missense_Mutation SNP ENST00000338432.11 exon10 c.T1630C p.F544L exonic ENSG00000076555.15 . nonsynonymous SNV ENSG00000076555.15:ENST00000338432.11:exon10:c.T1630C:p.F544L 12q24.11 C3L-00583 . . . . . . . . . 11.20 D T B B N D N D D 0.151 D D D 0.477 0.691 0.747 0.279 T D T T D T 2.635 22.700 0.994 D D -0.110 2.144 0.057 2.563 0.707 0.615 0.588 0.616 0.568 . 5.200 5.200 5.104 1.122 0.634 1.000 0.815 0.534 606 Biotin_carboxylation_domain;Carbamoyl-phosphate_synthetase_large_subunit-like,_ATP-binding_domain;ATP-grasp_fold . . . ACACB 279 0 200 99 0.331103678929766 TRUE TRUE +ENSG00000102763.18 . BCM GRCh38.p13 chr13 41568276 41568276 + G G C Missense_Mutation SNP ENST00000379310.8 exon45 c.C5639G p.S1880C exonic ENSG00000102763.18 . nonsynonymous SNV ENSG00000102763.18:ENST00000379310.8:exon45:c.C5639G:p.S1880C 13q14.11 C3L-00583 . . . . . . . . . 13.20 D D D D D D M T N 0.751 T T D 0.404 0.454 0.194 0.351 T T D T D D 4.135 28.100 0.992 D D 0.900 11.055 0.916 14.457 1.000 0.732 0.744 0.780 0.655 . 6.060 6.060 9.387 1.176 0.676 1.000 0.936 0.976 663 von_Willebrand_factor,_type_A . . . VWA8 205 0 183 71 0.279527559055118 TRUE TRUE +ENSG00000187790.11 . BCM GRCh38.p13 chr14 45159128 45159128 + - NA C Frame_Shift_Ins NA ENST00000267430.10 exon9 c.1430dupC p.R478Pfs*11 exonic ENSG00000187790.11 . frameshift insertion ENSG00000187790.11:ENST00000267430.10:exon9:c.1430dupC:p.R478Pfs*11 14q21.2 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FANCM NA NA NA NA NA NA NA +ENSG00000119636.16 . BCM GRCh38.p13 chr14 74023042 74023042 + A A - Frame_Shift_Del DEL ENST00000394009.5 exon2 c.183delA p.S63Vfs*5 exonic ENSG00000119636.16 . frameshift deletion ENSG00000119636.16:ENST00000394009.5:exon2:c.183delA:p.S63Vfs*5 14q24.3 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BBOF1 150 0 109 40 0.268456375838926 TRUE TRUE +ENSG00000179938.12 . BCM GRCh38.p13 chr15 30090238 30090238 + G G C Missense_Mutation SNP ENST00000567927.1 exon13 c.G1158C p.Q386H exonic ENSG00000179938.12 . nonsynonymous SNV ENSG00000179938.12:ENST00000567927.1:exon13:c.G1158C:p.Q386H 15q13.2 C3L-00583 . . . . . . . . . 7.15 T T . . . D M D D 0.122 T D D 0.197 . 0.735 1.382 . T T T T . 1.377 14.930 0.933 D N -0.434 1.311 -0.589 1.063 0.000 0.554 0.574 0.618 0.621 . 1.480 0.443 3.985 0.066 0.236 1.000 0.014 0.008 482 . . . . GOLGA8J 173 0 167 38 0.185365853658537 NA TRUE +ENSG00000187775.17 . BCM GRCh38.p13 chr17 78424138 78424138 + G G A Missense_Mutation SNP ENST00000389840.7 exon81 c.C13157T p.T4386I exonic ENSG00000187775.17 . nonsynonymous SNV ENSG00000187775.17:ENST00000389840.7:exon81:c.C13157T:p.T4386I 17q25.3 C3L-00583 . . . . . . . . . 3.13 . . . . N D . T . 0.166 T T T 0.052 . 0.102 . T . T T T D 1.491 15.680 0.913 D N -0.426 1.327 -0.242 1.689 0.999 0.707 0.702 0.702 0.714 . 5.230 4.230 0.475 1.176 0.676 0.342 0.996 0.896 912 Dynein_heavy_chain_domain . . . DNAH17 53 0 57 18 0.24 TRUE NA +ENSG00000156413.14 . BCM GRCh38.p13 chr19 5832510 5832510 + G G C Missense_Mutation SNP ENST00000286955.5 exon2 c.C58G p.L20V exonic ENSG00000156413.14 . nonsynonymous SNV ENSG00000156413.14:ENST00000286955.5:exon2:c.C58G:p.L20V 19p13.3 C3L-00583 . . . . . . . . . 5.20 D D P P N N M T D 0.056 T T D 0.116 0.732 0.568 0.616 T T T T T T 0.785 9.243 0.984 N N -0.406 1.369 -0.556 1.113 0.000 0.497 0.590 0.578 0.613 . 3.700 1.400 1.187 -0.294 -0.284 0.207 0.001 0.002 970 . . . ID=COSV54606589;OCCURENCE=1(salivary_gland) FUT6 157 0 125 69 0.355670103092784 TRUE TRUE +ENSG00000142449.13 . BCM GRCh38.p13 chr19 8136256 8136256 + G G A Missense_Mutation SNP ENST00000600128.6 exon12 c.C1399T p.P467S exonic ENSG00000142449.13 . nonsynonymous SNV ENSG00000142449.13:ENST00000600128.6:exon12:c.C1399T:p.P467S 19p13.2 C3L-00583 . . . . . . . . . 13.20 T D D P U D L D D 0.585 D D D 0.537 0.508 0.811 0.710 T T D T D D 2.329 21.700 0.998 D D -0.033 2.396 -0.182 1.829 1.000 0.672 0.547 0.702 0.613 . 4.200 3.100 3.871 1.006 0.676 1.000 0.119 0.004 934 EGF-like_domain;EGF-like_calcium-binding_domain . . . FBN3 69 0 72 21 0.225806451612903 TRUE TRUE +ENSG00000064547.14 . BCM GRCh38.p13 chr19 19624340 19624340 + G G C Missense_Mutation SNP ENST00000542587.5 exon6 c.C972G p.H324Q exonic ENSG00000064547.14 . nonsynonymous SNV ENSG00000064547.14:ENST00000542587.5:exon6:c.C972G:p.H324Q 19p13.11 C3L-00583 . . . . . . . . . 0.20 T T B B N N L T N 0.024 T T T 0.049 0.182 0.308 0.477 T T T T T T -0.230 0.440 0.728 N N -1.089 0.317 -1.081 0.396 0.000 0.672 0.698 0.702 0.605 . 4.780 1.240 -0.071 0.177 0.672 0.000 0.017 0.004 437 . . . . LPAR2 121 0 125 13 0.0942028985507246 TRUE TRUE +ENSG00000189114.8 . BCM GRCh38.p13 chr19 45179705 45179705 + C C A Missense_Mutation SNP ENST00000433642.3 exon2 c.C409A p.R137S exonic ENSG00000189114.8 . nonsynonymous SNV ENSG00000189114.8:ENST00000433642.3:exon2:c.C409A:p.R137S 19q13.32 C3L-00583 . . . . . . . . . 5.19 T T P B N D L . N 0.456 T T D 0.173 0.304 0.373 1.851 D D T T D T 2.566 22.600 0.989 N N -0.217 1.830 -0.219 1.740 1.000 0.496 0.484 0.608 0.492 . 3.560 3.560 1.694 0.870 0.411 0.963 0.999 0.911 934 . . . . BLOC1S3 80 0 139 93 0.400862068965517 TRUE TRUE +ENSG00000171425.10 . BCM GRCh38.p13 chr19 55645109 55645109 + C C G Missense_Mutation SNP ENST00000270451.6 exon2 c.C538G p.R180G exonic ENSG00000171425.10 . nonsynonymous SNV ENSG00000171425.10:ENST00000270451.6:exon2:c.C538G:p.R180G 19q13.42 C3L-00583 9.213e-06 0 0 0 0 1.598e-05 0 0 rs778131710 2.19 T T D P . N M T N 0.174 T T T 0.083 0.510 0.493 0.934 T T T T T T 1.621 16.510 0.997 N N 0.033 2.630 -0.154 1.900 1.000 0.707 0.672 0.702 0.714 . 3.500 1.260 -0.461 0.096 0.524 0.000 0.015 0.014 929 Zinc_finger_C2H2-type . . . ZNF581 25 0 13 6 0.315789473684211 TRUE NA +ENSG00000142409.6 . BCM GRCh38.p13 chr19 56088063 56088063 + C C T Missense_Mutation SNP ENST00000610935.2 exon3 c.G1109A p.G370D exonic ENSG00000142409.6 . nonsynonymous SNV ENSG00000142409.6:ENST00000610935.2:exon3:c.G1109A:p.G370D 19q13.43 C3L-00583 . . . . . . . . . 2.12 . T . . . N . . . 0.170 T T D 0.013 . 0.043 . D . T T T T 0.516 6.673 0.946 N N -1.068 0.335 -1.145 0.332 0.015 0.660 0.694 0.645 0.605 . 3.480 -1.720 0.361 0.894 0.563 0.000 0.001 0.003 952 . . . . ZNF787 50 1 48 18 0.272727272727273 TRUE NA +ENSG00000089177.18 . BCM GRCh38.p13 chr20 16380024 16380024 + G G A Missense_Mutation SNP ENST00000354981.6 exon19 c.C1978T p.R660C exonic ENSG00000089177.18 . nonsynonymous SNV ENSG00000089177.18:ENST00000354981.6:exon19:c.C1978T:p.R660C 20p12.1 C3L-00583 1.71e-05 0 0 0 0 3.049e-05 0 0 rs751854805 13.20 D D D D D D M T D 0.696 T T D 0.287 0.364 0.568 0.639 T T T T D D 4.249 29.100 0.999 D D 0.766 8.149 0.738 8.526 0.998 0.706 0.588 0.710 0.655 . 5.280 5.280 4.581 1.176 0.676 1.000 1.000 0.988 769 . . . ID=COSV104664228;OCCURENCE=1(large_intestine) KIF16B 51 0 35 15 0.3 TRUE NA +ENSG00000124207.17 . BCM GRCh38.p13 chr20 49058543 49058543 + G G T Missense_Mutation SNP ENST00000262982.3 exon2 c.G80T p.R27L exonic ENSG00000124207.17 . nonsynonymous SNV ENSG00000124207.17:ENST00000262982.3:exon2:c.G80T:p.R27L 20q13.13 C3L-00583 . . . . . . . . . 18.20 D D D D D D M T D 0.842 D D D 0.689 0.621 0.496 1.071 T D D D D D 4.405 31 0.998 D D 0.823 9.244 0.791 9.876 1.000 0.732 0.725 0.725 0.728 . 5.170 5.170 9.348 1.176 0.618 1.000 1.000 0.998 921 . . . . CSE1L 116 0 107 42 0.281879194630872 TRUE TRUE +ENSG00000185658.13 . BCM GRCh38.p13 chr21 39313293 39313293 + T T A Missense_Mutation SNP ENST00000333229.6 exon2 c.A56T p.Y19F exonic ENSG00000185658.13 . nonsynonymous SNV ENSG00000185658.13:ENST00000333229.6:exon2:c.A56T:p.Y19F 21q22.2 C3L-00583 . . . . . . . . . 13.20 D D D D U D M T D 0.417 T T D 0.193 0.600 0.750 2.445 D D T T D D 3.373 24.300 0.984 D N 0.407 4.388 0.318 3.823 1.000 0.733 0.522 0.601 0.581 . 3.330 3.330 4.052 1.027 0.641 1.000 1.000 0.997 969 . . . . BRWD1 144 0 140 55 0.282051282051282 TRUE TRUE +ENSG00000189269.12 . BCM GRCh38.p13 chr22 23617598 23617598 + C C A Missense_Mutation SNP ENST00000317749.9 exon7 c.G496T p.D166Y exonic ENSG00000189269.12 . nonsynonymous SNV ENSG00000189269.12:ENST00000317749.9:exon7:c.G496T:p.D166Y 22q11.23 C3L-00583 . . . . . . . . . 4.18 T D D D . N N T N 0.171 T T T 0.051 0.218 0.272 0.343 . T T T D T 0.869 10.110 0.963 N N -0.563 1.056 -0.856 0.680 0.010 0.516 0.610 0.409 0.530 . 0.104 0.104 -1.037 -2.086 -1.000 0.000 0.000 0.000 840 . . . . DRICH1 295 2 245 94 0.277286135693215 NA TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53201708 53201708 + G G - Frame_Shift_Del DEL ENST00000375401.8 exon14 c.1903delC p.R635Gfs*24 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon14:c.1903delC:p.R635Gfs*24 Xp11.22 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 182 0 81 88 0.520710059171598 TRUE TRUE +ENSG00000089154.11 . BCM GRCh38.p13 chr12 120131184 120131184 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000089154.11 ENST00000300648.7:exon55:c.7563+1G>A . . 12q24.23 C3L-00583 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.285 33 0.996 D . 1.124 18.597 0.959 16.514 1.000 0.257 0.272 0.232 0.118 0.980 5.030 5.030 7.092 1.018 0.589 1.000 0.998 0.944 401 . . . . GCN1 94 0 73 31 0.298076923076923 TRUE TRUE +ENSG00000162643.13 . BCM GRCh38.p13 chr1 85098607 85098607 + T T C Silent SNP ENST00000294664.11 exon13 c.T1428C p.N476N exonic ENSG00000162643.13 . synonymous SNV ENSG00000162643.13:ENST00000294664.11:exon13:c.T1428C:p.N476N 1p22.3 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR63 221 0 166 68 0.290598290598291 TRUE NA +ENSG00000145850.9 . BCM GRCh38.p13 chr5 156954437 156954437 + G G A Silent SNP ENST00000274532.7 exon2 c.C378T p.N126N exonic ENSG00000145850.9 . synonymous SNV ENSG00000145850.9:ENST00000274532.7:exon2:c.C378T:p.N126N 5q33.3 C3L-00583 2.503e-05 0 0 0 0 1.508e-05 0 0.0001 rs761841993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TIMD4 112 0 98 41 0.294964028776978 TRUE NA +ENSG00000173273.16 . BCM GRCh38.p13 chr8 9580355 9580355 + T T C Silent SNP ENST00000310430.11 exon2 c.T870C p.A290A exonic ENSG00000173273.16 . synonymous SNV ENSG00000173273.16:ENST00000310430.11:exon2:c.T870C:p.A290A 8p23.1 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNKS 215 0 172 51 0.228699551569507 TRUE TRUE +ENSG00000147654.15 . BCM GRCh38.p13 chr8 109553913 109553913 + T T C Silent SNP ENST00000337573.10 exon3 c.T132C p.T44T exonic ENSG00000147654.15 . synonymous SNV ENSG00000147654.15:ENST00000337573.10:exon3:c.T132C:p.T44T 8q23.2 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EBAG9 166 0 127 47 0.270114942528736 TRUE NA +ENSG00000198722.14 . BCM GRCh38.p13 chr9 35400412 35400412 + C C T Silent SNP ENST00000378495.7 exon36 c.C4206T p.I1402I exonic ENSG00000198722.14 . synonymous SNV ENSG00000198722.14:ENST00000378495.7:exon36:c.C4206T:p.I1402I 9p13.3 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13B 119 0 93 35 0.2734375 TRUE TRUE +ENSG00000215182.8 . BCM GRCh38.p13 chr11 1194193 1194193 + C C T Silent SNP ENST00000621226.2 exon34 c.C14839T p.L4947L exonic ENSG00000215182.8 . synonymous SNV ENSG00000215182.8:ENST00000621226.2:exon34:c.C14839T:p.L4947L 11p15.5 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5AC 364 0 286 124 0.302439024390244 TRUE TRUE +ENSG00000165494.11 . BCM GRCh38.p13 chr11 83184879 83184879 + A A G Silent SNP ENST00000298281.8 exon16 c.A4653G p.T1551T exonic ENSG00000165494.11 . synonymous SNV ENSG00000165494.11:ENST00000298281.8:exon16:c.A4653G:p.T1551T 11q14.1 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCF11 92 0 88 41 0.317829457364341 TRUE TRUE +ENSG00000196531.13 . BCM GRCh38.p13 chr12 56716715 56716715 + C C T Silent SNP ENST00000454682.6 exon3 c.G4815A p.V1605V exonic ENSG00000196531.13 . synonymous SNV ENSG00000196531.13:ENST00000454682.6:exon3:c.G4815A:p.V1605V 12q13.3 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63271385;OCCURENCE=1(breast) NACA 28 0 23 11 0.323529411764706 TRUE NA +ENSG00000005810.18 . BCM GRCh38.p13 chr13 77177913 77177913 + A A G Silent SNP ENST00000544440.7 exon35 c.T5175C p.A1725A exonic ENSG00000005810.18 . synonymous SNV ENSG00000005810.18:ENST00000544440.7:exon35:c.T5175C:p.A1725A 13q22.3 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYCBP2 349 0 294 102 0.257575757575758 TRUE TRUE +ENSG00000103512.15 . BCM GRCh38.p13 chr16 14875373 14875373 + T T G Silent SNP ENST00000287667.12 exon20 c.T2307G p.S769S exonic ENSG00000103512.15 . synonymous SNV ENSG00000103512.15:ENST00000287667.12:exon20:c.T2307G:p.S769S 16p13.11 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOMO1 130 1 146 26 0.151162790697674 NA TRUE +ENSG00000171346.16 . BCM GRCh38.p13 chr17 41518540 41518540 + G G A Silent SNP ENST00000254043.8 exon1 c.C288T p.G96G exonic ENSG00000171346.16 . synonymous SNV ENSG00000171346.16:ENST00000254043.8:exon1:c.C288T:p.G96G 17q21.2 C3L-00583 1.648e-05 0 0 0 0 1.499e-05 0 6.057e-05 rs768785185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT15 248 0 195 73 0.272388059701493 TRUE NA +ENSG00000274391.4 . BCM GRCh38.p13 chr21 10561057 10561057 + G G C Silent SNP ENST00000618007.4 exon10 c.G312C p.L104L exonic ENSG00000274391.4 . synonymous SNV ENSG00000274391.4:ENST00000618007.4:exon10:c.G312C:p.L104L 21p11.2 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TPTE 291 0 282 66 0.189655172413793 NA TRUE +ENSG00000128271.22 . BCM GRCh38.p13 chr22 24441057 24441057 + C C A Silent SNP ENST00000337539.12 exon3 c.C807A p.L269L exonic ENSG00000128271.22 . synonymous SNV ENSG00000128271.22:ENST00000337539.12:exon3:c.C807A:p.L269L 22q11.23 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADORA2A 195 1 155 80 0.340425531914894 TRUE TRUE +ENSG00000076716.9 . BCM GRCh38.p13 chrX 133324172 133324172 + C C T Silent SNP ENST00000370828.4 exon3 c.G684A p.A228A exonic ENSG00000076716.9 . synonymous SNV ENSG00000076716.9:ENST00000370828.4:exon3:c.G684A:p.A228A Xq26.2 C3L-00583 2.388e-05 0 0 0.0003 0 0 0 0 rs757883865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPC4 52 0 23 26 0.530612244897959 TRUE NA +ENSG00000203864.3 . BCM GRCh38.p13 chr1 116694758 116694758 + G G T RNA SNP NA NA NA NA ncRNA_splicing ENSG00000203864.3 ENST00000624685.1:exon2:c.87-1G>T . . 1p13.1 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02868 116 1 113 55 0.327380952380952 TRUE NA +ENSG00000185842.15 . BCM GRCh38.p13 chr1 225082730 225082730 + A A G Intron SNP NA NA NA NA intronic ENSG00000185842.15 . . . 1q42.12 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH14 212 0 186 85 0.313653136531365 TRUE TRUE +ENSG00000119787.14 . BCM GRCh38.p13 chr2 38376118 38376118 + A A T Intron SNP NA NA NA NA intronic ENSG00000119787.14 . . . 2p22.1 C3L-00583 . . . . . . . . . 0.14 T T . . . N . T N 0.208 T T T 0.218 0.222 0.934 . . . T T T T 1.391 15.020 0.921 N N -0.825 0.620 -0.864 0.669 1.000 0.524 0.219 0.231 0.250 . 3.240 0.794 0.624 1.312 0.756 0.007 0.748 0.988 894 . . . . ATL2 50 0 46 19 0.292307692307692 TRUE NA +ENSG00000177034.17 . BCM GRCh38.p13 chr5 79990877 79990877 + G G A Intron SNP NA NA NA NA intronic ENSG00000177034.17 . . . 5q14.1 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTX3 233 1 146 67 0.314553990610329 TRUE NA +ENSG00000183154.1 . BCM GRCh38.p13 chr8 37736077 37736077 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000183154.1 . . . 8p11.23 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC138356.1 37 0 33 10 0.232558139534884 TRUE NA +ENSG00000178814.17 . BCM GRCh38.p13 chr8 144054768 144054768 + G G A Intron SNP NA NA NA NA intronic ENSG00000178814.17 . . . 8q24.3 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OPLAH 257 1 245 100 0.289855072463768 TRUE NA +ENSG00000174171.6 . BCM GRCh38.p13 chr15 41895292 41895292 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000174171.6 . . . 15q15.1 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC020659.1 107 0 75 29 0.278846153846154 TRUE NA +ENSG00000029725.17 . BCM GRCh38.p13 chr17 5338159 5338159 + A A G Intron SNP NA NA NA NA intronic ENSG00000029725.17 . . . 17p13.2 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RABEP1 65 0 60 28 0.318181818181818 TRUE NA +ENSG00000198793.13 . BCM GRCh38.p13 chr1 11114326 11114327 + AG AG TT Unknown MNP ENST00000361445.9 exon53 c.7291_7292delinsAA p.L2431K exonic ENSG00000198793.13 . nonframeshift substitution ENSG00000198793.13:ENST00000361445.9:exon53:c.7291_7292delinsAA:p.L2431K 1p36.22 C3L-00583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTOR 104 0 73 37 0.336363636363636 NA TRUE +ENSG00000173369.16 . BCM GRCh38.p13 chr1 22661149 22661149 + C C - Frame_Shift_Del DEL ENST00000314933.6 exon3 c.525delC p.S176Lfs*7 exonic ENSG00000173369.16 . frameshift deletion ENSG00000173369.16:ENST00000314933.6:exon3:c.525delC:p.S176Lfs*7 1p36.12 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1QB 242 0 235 80 0.253968253968254 TRUE TRUE +ENSG00000198815.9 . BCM GRCh38.p13 chr1 42181932 42181932 + C C A Nonsense_Mutation SNP ENST00000361346.6 exon12 c.G1738T p.G580X exonic ENSG00000198815.9 . stopgain ENSG00000198815.9:ENST00000361346.6:exon12:c.G1738T:p.G580X 1p34.2 C3L-00606 . . . . . . . . . 5.6 . . . . D D . . . 0.395 . . . . . . . . . D D . . 8.406 43 0.995 D N 1.083 16.818 0.934 15.267 1.000 0.732 0.725 0.744 0.714 . 5.370 5.370 4.170 0.960 0.523 1.000 1.000 0.997 790 . . . . FOXJ3 84 0 76 4 0.05 TRUE NA +ENSG00000069702.11 . BCM GRCh38.p13 chr1 91719919 91719919 + C C T Missense_Mutation SNP ENST00000212355.9 exon9 c.G1387A p.V463M exonic ENSG00000069702.11 . nonsynonymous SNV ENSG00000069702.11:ENST00000212355.9:exon9:c.G1387A:p.V463M 1p22.1 C3L-00606 . . . . . . . . . 18.20 D D D D D D M D N 0.618 D D D 0.656 0.615 0.939 0.845 T D D D D D 3.807 25.900 0.999 D D 0.771 8.247 0.743 8.639 1.000 0.615 0.634 0.659 0.636 . 5.280 5.280 5.803 1.026 0.599 0.999 0.995 0.997 651 Zona_pellucida_domain . . ID=COSV53025131;OCCURENCE=1(large_intestine),1(endometrium) TGFBR3 163 0 187 49 0.207627118644068 TRUE TRUE +ENSG00000122483.17 . BCM GRCh38.p13 chr1 93232483 93232483 + G G A Missense_Mutation SNP ENST00000343253.11 exon18 c.G2347A p.E783K exonic ENSG00000122483.17 . nonsynonymous SNV ENSG00000122483.17:ENST00000343253.11:exon18:c.G2347A:p.E783K 1p22.1 C3L-00606 . . . . . . . . . 5.19 T T P B D D N . N 0.454 T T T 0.094 0.288 0.369 . T T T T D D 2.675 22.800 0.996 D N -0.032 2.399 0.060 2.575 0.497 0.707 0.725 0.659 0.655 . 5.710 3.580 4.293 1.176 0.676 1.000 0.686 0.836 433 . . . . CCDC18 41 0 89 19 0.175925925925926 TRUE TRUE +ENSG00000159164.10 . BCM GRCh38.p13 chr1 149913222 149913222 + G G - Nonsense_Mutation SNP ENST00000369146.8 exon2 c.619delC p.L207* exonic ENSG00000159164.10 . stopgain ENSG00000159164.10:ENST00000369146.8:exon2:c.619delC:p.L207* 1q21.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SV2A 57 0 63 34 0.350515463917526 TRUE TRUE +ENSG00000213171.3 . BCM GRCh38.p13 chr1 151801744 151801744 + G G - Frame_Shift_Del DEL ENST00000368820.4 exon2 c.961delC p.H321Mfs*3 exonic ENSG00000213171.3 . frameshift deletion ENSG00000213171.3:ENST00000368820.4:exon2:c.961delC:p.H321Mfs*3 1q21.3 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINGO4 218 0 158 63 0.285067873303167 TRUE TRUE +ENSG00000153207.16 . BCM GRCh38.p13 chr1 246890045 246890045 + A A T Missense_Mutation SNP ENST00000648844.2 exon17 c.T2065A p.L689M exonic ENSG00000153207.16 . nonsynonymous SNV ENSG00000153207.16:ENST00000648844.2:exon17:c.T2065A:p.L689M 1q44 C3L-00606 . . . . . . . . . 10.20 D D D D D D M T N 0.439 T T T 0.145 0.223 0.382 0.869 T T T T D D 2.868 23.100 0.993 D N 0.141 3.052 0.056 2.563 0.002 0.476 0.546 0.464 0.528 . 5.370 1.210 2.292 -0.037 -0.107 1.000 0.996 0.969 753 . . . . AHCTF1 72 0 168 33 0.164179104477612 TRUE TRUE +ENSG00000177489.1 . BCM GRCh38.p13 chr1 247589313 247589315 + ATT ATT - Nonstop_Mutation DEL ENST00000320065.1 exon1 c.954delA p.*318del exonic ENSG00000177489.1 . stoploss ENSG00000177489.1:ENST00000320065.1:exon1:c.954delA:p.*318del 1q44 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR2G2 37 0 38 9 0.191489361702128 TRUE NA +ENSG00000084731.15 . BCM GRCh38.p13 chr2 25956376 25956376 + C C A Missense_Mutation SNP ENST00000264712.8 exon2 c.G1614T p.M538I exonic ENSG00000084731.15 . nonsynonymous SNV ENSG00000084731.15:ENST00000264712.8:exon2:c.G1614T:p.M538I 2p23.3 C3L-00606 . . . . . . . . rs748213434 6.16 T T . . D D . T N 0.290 T T D 0.162 0.264 0.392 0.616 D . T T D T 1.786 17.630 0.988 D N -0.160 1.992 0.042 2.509 1.000 0.707 0.588 0.725 0.714 . 5.440 5.440 0.450 1.026 0.599 0.304 1.000 0.997 395 . . . . KIF3C 201 0 136 47 0.256830601092896 TRUE NA +ENSG00000155754.15 . BCM GRCh38.p13 chr2 201604685 201604685 + T T - Frame_Shift_Del DEL ENST00000286195.7 exon2 c.244delA p.T82Lfs*12 exonic ENSG00000155754.15 . frameshift deletion ENSG00000155754.15:ENST00000286195.7:exon2:c.244delA:p.T82Lfs*12 2q33.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C2CD6 36 0 79 22 0.217821782178218 TRUE TRUE +ENSG00000115020.17 . BCM GRCh38.p13 chr2 208285854 208285854 + C C A Missense_Mutation SNP ENST00000264380.9 exon6 c.C742A p.P248T exonic ENSG00000115020.17 . nonsynonymous SNV ENSG00000115020.17:ENST00000264380.9:exon6:c.C742A:p.P248T 2q34 C3L-00606 . . . . . . . . . 10.20 D D D D D D L T N 0.793 T T T 0.213 0.205 0.480 1.041 T T T T D D 3.540 24.800 0.998 D D 0.530 5.280 0.601 6.235 1.000 0.707 0.654 0.609 0.714 . 5.920 5.920 7.905 1.026 0.599 1.000 0.970 0.868 652 . . . . PIKFYVE 234 1 324 129 0.28476821192053 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52644785 52644785 + G G T Missense_Mutation SNP ENST00000296302.11 exon8 c.C818A p.A273E exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon8:c.C818A:p.A273E 3p21.1 C3L-00606 . . . . . . . . . 16.20 D D D D D D H T D 0.936 T T D 0.729 0.843 0.888 1.602 D T D D D D 3.988 26.900 0.993 D D 1.016 14.429 0.948 15.957 1.000 0.707 0.725 0.651 0.714 . 5.690 5.690 9.254 1.106 0.596 1.000 1.000 0.999 28 Bromodomain . . . PBRM1 43 0 24 8 0.25 NA TRUE +ENSG00000155903.13 . BCM GRCh38.p13 chr3 141581109 141581109 + A A - Frame_Shift_Del DEL ENST00000286364.9 exon17 c.1684delA p.E563Rfs*18 exonic ENSG00000155903.13 . frameshift deletion ENSG00000155903.13:ENST00000286364.9:exon17:c.1684delA:p.E563Rfs*18 3q23 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASA2 29 0 13 9 0.409090909090909 TRUE TRUE +ENSG00000113810.16 . BCM GRCh38.p13 chr3 160417858 160417858 + G G A Missense_Mutation SNP ENST00000357388.8 exon11 c.G1573A p.E525K exonic ENSG00000113810.16 . nonsynonymous SNV ENSG00000113810.16:ENST00000357388.8:exon11:c.G1573A:p.E525K 3q25.33 C3L-00606 . . . . . . . . . 2.20 T T B B N D N T N 0.285 T T T 0.204 0.444 0.754 0.192 T T T T T T 2.813 23.000 0.997 D N -0.132 2.076 0.097 2.723 1.000 0.707 0.725 0.725 0.714 . 5.740 4.690 4.853 1.176 0.676 1.000 1.000 0.987 756 RecF/RecN/SMC,_N-terminal . . . SMC4 101 0 167 43 0.204761904761905 TRUE TRUE +ENSG00000109667.12 . BCM GRCh38.p13 chr4 9996880 9996880 + T T C Missense_Mutation SNP ENST00000264784.8 exon3 c.A311G p.D104G exonic ENSG00000109667.12 . nonsynonymous SNV ENSG00000109667.12:ENST00000264784.8:exon3:c.A311G:p.D104G 4p16.1 C3L-00606 8.237e-06 0 8.639e-05 0 0 0 0 0 rs773926335 2.20 T T B B N N N D N 0.113 T T D 0.209 0.545 0.631 0.139 T T T T T T 1.937 18.780 0.978 N N -0.399 1.386 -0.227 1.722 1.000 0.560 0.624 0.574 0.000 . 5.210 3.950 1.380 0.959 0.611 0.287 0.435 0.972 851 Major_facilitator_superfamily_domain . . . SLC2A9 256 0 294 109 0.270471464019851 TRUE NA +ENSG00000174473.16 . BCM GRCh38.p13 chr4 171814708 171814708 + G G T Missense_Mutation SNP ENST00000506823.6 exon2 c.G128T p.G43V exonic ENSG00000174473.16 . nonsynonymous SNV ENSG00000174473.16:ENST00000506823.6:exon2:c.G128T:p.G43V 4q34.1 C3L-00606 . . . . . . . . . 4.19 T D B B . D N T D 0.167 T T T 0.227 0.420 0.415 0.621 T T T T T T 1.235 13.910 0.968 D N -0.254 1.729 -0.079 2.107 1.000 0.583 0.563 0.615 0.530 . 5.900 5.040 1.788 0.169 0.676 1.000 0.750 0.622 972 . . . ID=COSV72552982;OCCURENCE=2(lung) GALNTL6 178 0 154 72 0.31858407079646 TRUE TRUE +ENSG00000038382.20 . BCM GRCh38.p13 chr5 14304478 14304478 + T T G Missense_Mutation SNP ENST00000344204.9 exon8 c.T1386G p.D462E exonic ENSG00000038382.20 . nonsynonymous SNV ENSG00000038382.20:ENST00000344204.9:exon8:c.T1386G:p.D462E 5p15.2 C3L-00606 . . . . . . . . . 4.20 T T B B D D N T N 0.180 T T T 0.268 0.362 0.788 0.807 T T T T T D 0.946 10.940 0.860 D N -0.895 0.527 -0.806 0.749 1.000 0.732 0.725 0.744 0.735 . 5.180 -3.990 -0.086 -0.568 -0.123 0.808 0.987 0.988 759 . . . . TRIO 121 0 121 55 0.3125 TRUE TRUE +ENSG00000171495.17 . BCM GRCh38.p13 chr5 41057342 41057342 + T T A Missense_Mutation SNP ENST00000399564.5 exon8 c.A775T p.T259S exonic ENSG00000171495.17 . nonsynonymous SNV ENSG00000171495.17:ENST00000399564.5:exon8:c.A775T:p.T259S 5p13.1 C3L-00606 . . . . . . . . . 2.20 T D B B N N M T N 0.120 T T T 0.021 0.378 0.030 0.020 T T T T T T 0.846 9.863 0.851 N N -0.679 0.849 -0.691 0.913 0.000 0.487 0.574 0.574 0.526 . 5.210 1.440 0.332 0.155 0.665 0.787 0.405 0.816 435 . . . . MROH2B 104 0 122 40 0.246913580246914 TRUE TRUE +ENSG00000164176.13 . BCM GRCh38.p13 chr5 84229868 84229868 + T T A Missense_Mutation SNP ENST00000296591.10 exon3 c.A213T p.E71D exonic ENSG00000164176.13 . nonsynonymous SNV ENSG00000164176.13:ENST00000296591.10:exon3:c.A213T:p.E71D 5q14.3 C3L-00606 . . . . . . . . . 4.20 T T B B N D N D N 0.251 T D D 0.158 0.286 0.835 0.230 T T T T T T 1.592 16.320 0.980 N N -0.761 0.713 -0.620 1.016 0.006 0.693 0.574 0.659 0.564 . 5.590 1.640 0.465 -0.723 -1.097 1.000 0.927 0.740 967 . . . . EDIL3 71 0 117 8 0.064 TRUE TRUE +ENSG00000069018.19 . BCM GRCh38.p13 chr5 136226169 136226169 + A A - Frame_Shift_Del DEL ENST00000513104.6 exon9 c.2127delT p.F709Lfs*3 exonic ENSG00000069018.19 . frameshift deletion ENSG00000069018.19:ENST00000513104.6:exon9:c.2127delT:p.F709Lfs*3 5q31.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRPC7 132 0 253 70 0.21671826625387 TRUE TRUE +ENSG00000262576.3 . BCM GRCh38.p13 chr5 141356464 141356464 + - NA T Frame_Shift_Ins NA ENST00000571252.3 exon1 c.1358dupT p.T454Nfs*4 exonic ENSG00000262576.3 . frameshift insertion ENSG00000262576.3:ENST00000571252.3:exon1:c.1358dupT:p.T454Nfs*4 5q31.3 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA4 NA NA NA NA NA NA NA +ENSG00000113555.5 . BCM GRCh38.p13 chr5 141957401 141957401 + G G A Nonsense_Mutation SNP ENST00000231484.3 exon1 c.C451T p.R151X exonic ENSG00000113555.5 . stopgain ENSG00000113555.5:ENST00000231484.3:exon1:c.C451T:p.R151X 5q31.3 C3L-00606 . . . . . . . . . 3.6 . . . . N A . . . 0.076 . . . . . . . . . D D . . 5.686 34 0.998 N N 0.352 4.060 0.092 2.701 1.000 0.660 0.588 0.602 0.651 . 5.200 3.410 0.137 1.176 0.676 0.000 0.960 0.938 876 Cadherin-like . . ID=COSV99190845;OCCURENCE=1(large_intestine) PCDH12 77 0 87 18 0.171428571428571 TRUE NA +ENSG00000113758.13 . BCM GRCh38.p13 chr5 177458117 177458117 + G G T Missense_Mutation SNP ENST00000309007.9 exon12 c.C1717A p.Q573K exonic ENSG00000113758.13 . nonsynonymous SNV ENSG00000113758.13:ENST00000309007.9:exon12:c.C1717A:p.Q573K 5q35.3 C3L-00606 . . . . . . . . . 4.20 T T B B N N N D N 0.128 T D D 0.190 0.173 0.553 0.182 T T T T T T 0.980 11.370 0.870 D N -0.450 1.276 -0.323 1.517 1.000 0.722 0.644 0.672 0.735 . 4.170 4.170 2.607 1.101 0.676 0.933 0.627 0.114 917 . . . . DBN1 309 1 194 138 0.41566265060241 TRUE TRUE +ENSG00000151914.20 . BCM GRCh38.p13 chr6 56605966 56605966 + A A T Missense_Mutation SNP ENST00000361203.7 exon36 c.T8029A p.L2677I exonic ENSG00000151914.20 . nonsynonymous SNV ENSG00000151914.20:ENST00000361203.7:exon36:c.T8029A:p.L2677I 6p12.1 C3L-00606 . . . . . . . . . 1.17 T T P B N . . T N 0.277 T T D 0.051 . 0.457 . . T T T T T 0.394 5.362 0.978 N N -0.604 0.981 -0.691 0.913 0.894 0.732 0.602 0.670 0.728 . 5.450 2.910 0.366 1.312 0.756 0.000 0.006 0.032 252 . . . . DST 44 1 134 22 0.141025641025641 TRUE NA +ENSG00000185760.15 . BCM GRCh38.p13 chr6 73195318 73195319 + CT CT - Frame_Shift_Del DEL ENST00000370398.5 exon14 c.2703_2704del p.L903Kfs*13 exonic ENSG00000185760.15 . frameshift deletion ENSG00000185760.15:ENST00000370398.5:exon14:c.2703_2704del:p.L903Kfs*13 6q13 C3L-00606 1.65e-05 0 0 0.0002 0 0 0 0 rs779394238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNQ5 238 0 284 107 0.273657289002558 TRUE NA +ENSG00000135541.21 . BCM GRCh38.p13 chr6 135411532 135411532 + T T A Missense_Mutation SNP ENST00000265602.11 exon21 c.A2777T p.E926V exonic ENSG00000135541.21 . nonsynonymous SNV ENSG00000135541.21:ENST00000265602.11:exon21:c.A2777T:p.E926V 6q23.3 C3L-00606 . . . . . . . . . 13.20 D D D D D D M T D 0.662 T T T 0.202 0.459 0.639 0.207 T T D T D D 4.242 29.100 0.992 D D 0.333 3.956 0.428 4.562 1.000 0.657 0.695 0.659 0.759 . 5.870 5.870 4.097 1.118 0.665 1.000 0.993 0.988 678 . . . . AHI1 29 0 41 19 0.316666666666667 TRUE TRUE +ENSG00000002746.15 . BCM GRCh38.p13 chr7 43508002 43508027 + CCCTTCTCCTTCTCAGGCTCATTATT CCCTTCTCCTTCTCAGGCTCATTATT - Frame_Shift_Del DEL ENST00000395891.7 exon23 c.3753_3762del p.K1251Nfs*14 exonic ENSG00000002746.15 . frameshift deletion ENSG00000002746.15:ENST00000395891.7:exon23:c.3753_3762del:p.K1251Nfs*14 7p13 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HECW1 132 0 112 35 0.238095238095238 NA TRUE +ENSG00000178665.16 . BCM GRCh38.p13 chr7 55939172 55939172 + A A T Missense_Mutation SNP ENST00000633730.1 exon4 c.A459T p.Q153H exonic ENSG00000178665.16 . nonsynonymous SNV ENSG00000178665.16:ENST00000633730.1:exon4:c.A459T:p.Q153H 7p11.2 C3L-00606 . . . . . . . . . 2.17 . D D P N N N . . 0.129 T T T 0.055 0.338 0.425 0.149 T T T T T T 1.867 18.240 0.997 N N 0.015 2.565 -0.083 2.096 0.012 0.615 0.588 0.602 0.655 . 3.780 3.780 0.848 1.118 0.691 0.000 0.655 0.425 778 . . . . ZNF713 66 0 127 49 0.278409090909091 TRUE TRUE +ENSG00000178665.16 . BCM GRCh38.p13 chr7 55939191 55939191 + A A G Missense_Mutation SNP ENST00000633730.1 exon4 c.A478G p.K160E exonic ENSG00000178665.16 . nonsynonymous SNV ENSG00000178665.16:ENST00000633730.1:exon4:c.A478G:p.K160E 7p11.2 C3L-00606 . . . . . . . . . 2.17 . D D P N N N . . 0.279 T T T 0.116 0.458 0.403 0.269 T T T T T T 1.863 18.200 0.986 N N -0.083 2.230 -0.208 1.766 0.297 0.615 0.588 0.602 0.655 . 3.780 3.780 3.788 1.118 -0.083 0.315 0.145 0.004 778 . . . . ZNF713 74 0 128 57 0.308108108108108 TRUE TRUE +ENSG00000188037.12 . BCM GRCh38.p13 chr7 143346585 143346585 + G G C Missense_Mutation SNP ENST00000343257.7 exon19 c.G2291C p.R764T exonic ENSG00000188037.12 . nonsynonymous SNV ENSG00000188037.12:ENST00000343257.7:exon19:c.G2291C:p.R764T 7q34 C3L-00606 . . . . . . . . . 2.20 T T B B N N L D N 0.541 T T T 0.446 0.348 0.882 0.278 T T T T T T 2.480 22.400 0.829 D N -0.211 1.847 -0.101 2.044 1.000 0.581 0.590 0.576 0.530 . 4.390 4.390 3.261 1.158 0.656 0.618 0.324 0.587 . . . . . CLCN1 273 0 334 90 0.212264150943396 TRUE TRUE +ENSG00000147364.17 . BCM GRCh38.p13 chr8 468754 468766 + TGCTTCACGCCTG TGCTTCACGCCTG - Frame_Shift_Del DEL ENST00000382824.5 exon11 c.1054_1066del p.F353Lfs*23 exonic ENSG00000147364.17 . frameshift deletion ENSG00000147364.17:ENST00000382824.5:exon11:c.1054_1066del:p.F353Lfs*23 8p23.3 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXO25 176 0 125 17 0.119718309859155 TRUE TRUE +ENSG00000155097.12 . BCM GRCh38.p13 chr8 103040897 103040897 + A A - Frame_Shift_Del DEL ENST00000518738.2 exon2 c.61delA p.K21Nfs*23 exonic ENSG00000155097.12 . frameshift deletion ENSG00000155097.12:ENST00000518738.2:exon2:c.61delA:p.K21Nfs*23 8q22.3 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP6V1C1 108 0 158 49 0.236714975845411 TRUE TRUE +ENSG00000107187.17 . BCM GRCh38.p13 chr9 136199842 136199842 + A A T Missense_Mutation SNP ENST00000371748.10 exon3 c.T290A p.I97N exonic ENSG00000107187.17 . nonsynonymous SNV ENSG00000107187.17:ENST00000371748.10:exon3:c.T290A:p.I97N 9q34.3 C3L-00606 . . . . . . . . . 20.20 D D D D D D H D D 0.967 D D D 0.911 0.794 0.987 2.510 D D D D D D 4.423 31 0.994 D D 0.948 12.351 0.803 10.208 1.000 0.598 0.596 0.596 0.639 . 4.190 4.190 8.941 1.294 0.735 1.000 1.000 0.999 725 Zinc_finger,_LIM-type . . . LHX3 181 0 155 57 0.268867924528302 TRUE TRUE +ENSG00000260314.3 . BCM GRCh38.p13 chr10 17881121 17881121 + C C T Nonsense_Mutation SNP ENST00000569591.3 exon21 c.C2920T p.R974X exonic ENSG00000260314.3 . stopgain ENSG00000260314.3:ENST00000569591.3:exon21:c.C2920T:p.R974X 10p12.33 C3L-00606 . . . . . . . . . 4.6 . . . . U A . . . 0.783 . . . . . . . . . D D . . 7.902 40 0.998 D N 0.631 6.254 0.453 4.755 0.000 0.487 0.574 0.574 0.564 . 3.730 3.730 2.174 1.008 0.599 1.000 0.987 0.997 906 C-type_lectin-like . . . MRC1 191 0 376 112 0.229508196721311 TRUE NA +ENSG00000151033.10 . BCM GRCh38.p13 chr10 30626221 30626221 + G G A Missense_Mutation SNP ENST00000647634.2 exon3 c.C182T p.A61V exonic ENSG00000151033.10 . nonsynonymous SNV ENSG00000151033.10:ENST00000647634.2:exon3:c.C182T:p.A61V 10p11.23 C3L-00606 . . . . . . . . . 5.20 D T D P N N M T D 0.408 T T T 0.444 0.873 0.481 0.198 T T T T D T 1.844 18.060 0.998 N N -0.246 1.752 -0.480 1.234 0.000 0.487 0.563 0.574 0.542 . 2.160 1.200 2.596 1.027 0.347 0.644 0.003 0.053 829 . . . . LYZL2 152 0 149 50 0.251256281407035 NA TRUE +ENSG00000077150.20 . BCM GRCh38.p13 chr10 102400783 102400783 + G G T Nonsense_Mutation SNP ENST00000661543.1 exon17 c.G1927T p.E643X exonic ENSG00000077150.20 . stopgain ENSG00000077150.20:ENST00000661543.1:exon17:c.G1927T:p.E643X 10q24.32 C3L-00606 . . . . . . . . . 5.6 . . . . D A . . . 0.968 . . . . . . . . . D D . . 8.125 41 0.997 D N 1.004 14.058 0.829 11.031 1.000 0.722 0.699 0.644 0.714 . 4.430 4.430 4.647 1.097 0.586 1.000 1.000 0.996 743 Ankyrin_repeat-containing_domain . . . NFKB2 70 0 70 4 0.0540540540540541 TRUE NA +ENSG00000177156.11 . BCM GRCh38.p13 chr11 755935 755935 + G G A Missense_Mutation SNP ENST00000319006.8 exon2 c.G154A p.A52T exonic ENSG00000177156.11 . nonsynonymous SNV ENSG00000177156.11:ENST00000319006.8:exon2:c.G154A:p.A52T 11p15.5 C3L-00606 . . . . . . . . rs893159233 18.20 D D D P D D M D D 0.830 D D D 0.818 0.800 0.943 0.130 T D D D D D 3.433 24.500 0.999 D D 0.535 5.318 0.418 4.488 1.000 0.672 0.702 0.702 0.711 . 4.290 4.290 9.283 1.106 0.509 1.000 0.314 0.076 889 . . . ID=COSV59797685;OCCURENCE=1(stomach) TALDO1 329 0 319 92 0.223844282238443 TRUE TRUE +ENSG00000197601.13 . BCM GRCh38.p13 chr11 13721795 13721795 + C C T Missense_Mutation SNP ENST00000354817.8 exon10 c.C1193T p.S398F exonic ENSG00000197601.13 . nonsynonymous SNV ENSG00000197601.13:ENST00000354817.8:exon10:c.C1193T:p.S398F 11p15.3 C3L-00606 . . . . . . . . . 16.20 D D D D D D M T D 0.844 T T D 0.302 0.717 0.555 2.007 D D D T D D 3.978 26.800 0.998 D D 0.788 8.540 0.784 9.660 1.000 0.732 0.744 0.710 0.632 . 5.610 5.610 4.925 1.026 0.599 1.000 1.000 0.999 579 Fatty_acyl-CoA_reductase,_C-terminal . . . FAR1 46 0 49 22 0.309859154929577 TRUE TRUE +ENSG00000030066.13 . BCM GRCh38.p13 chr11 47783150 47783150 + A A C Missense_Mutation SNP ENST00000378460.6 exon34 c.T4039G p.L1347V exonic ENSG00000030066.13 . nonsynonymous SNV ENSG00000030066.13:ENST00000378460.6:exon34:c.T4039G:p.L1347V 11p11.2 C3L-00606 . . . . . . . . . 12.19 D D D D D D M T N 0.683 T T D 0.237 0.333 0.518 0.746 T T D D D . 3.604 25.100 0.998 D N 0.625 6.191 0.577 5.944 0.981 0.719 0.725 0.725 0.734 . 5.460 4.340 3.174 1.312 0.756 1.000 1.000 1.000 15 . . . . NUP160 55 0 121 40 0.248447204968944 TRUE TRUE +ENSG00000181958.4 . BCM GRCh38.p13 chr11 55368380 55368380 + G G A Missense_Mutation SNP ENST00000314706.3 exon1 c.G497A p.R166H exonic ENSG00000181958.4 . nonsynonymous SNV ENSG00000181958.4:ENST00000314706.3:exon1:c.G497A:p.R166H 11q11 C3L-00606 0.0001 9.612e-05 0.0003 0.0009 0 1.499e-05 0 6.056e-05 rs138616202 1.20 T T B B N N N T D 0.047 T T T 0.011 0.465 0.076 . T T T T T T -0.380 0.212 0.913 N N -1.344 0.142 -1.472 0.119 0.000 0.487 0.574 0.574 0.564 . 3.480 -3.710 -3.550 -0.046 -0.331 0.000 0.060 0.021 145 GPCR,_rhodopsin-like,_7TM . . ID=COSV59037430;OCCURENCE=1(large_intestine) OR4A15 134 0 193 61 0.240157480314961 NA TRUE +ENSG00000137494.14 . BCM GRCh38.p13 chr11 83240819 83240819 + C C G Missense_Mutation SNP ENST00000393392.6 exon9 c.C996G p.D332E exonic ENSG00000137494.14 . nonsynonymous SNV ENSG00000137494.14:ENST00000393392.6:exon9:c.C996G:p.D332E 11q14.1 C3L-00606 . . . . . . . . . 1.20 T T B B N N L T N 0.122 T T D 0.039 0.301 0.322 0.144 T T T T T T 1.157 13.290 0.967 N N -1.179 0.242 -1.181 0.299 0.001 0.638 0.588 0.618 0.668 . 5.310 -3.300 -0.216 -0.547 -0.695 0.697 0.964 0.973 571 EF-Hand_1,_calcium-binding_site . . . ANKRD42 89 0 102 31 0.233082706766917 TRUE TRUE +ENSG00000196954.14 . BCM GRCh38.p13 chr11 104954831 104954831 + A A T Missense_Mutation SNP ENST00000444739.7 exon2 c.T178A p.S60T exonic ENSG00000196954.14 . nonsynonymous SNV ENSG00000196954.14:ENST00000444739.7:exon2:c.T178A:p.S60T 11q22.3 C3L-00606 . . . . . . . . . 1.20 D T B B N N L T N 0.104 T T T 0.013 0.466 0.270 0.074 T T T T T T -0.208 0.490 0.890 N N -0.849 0.587 -0.976 0.519 0.051 0.732 0.744 0.574 0.613 . 3.460 0.878 -0.063 -0.904 0.665 0.000 0.000 0.002 894 CARD_domain . . . CASP4 202 0 337 102 0.232346241457859 TRUE TRUE +ENSG00000139192.12 . BCM GRCh38.p13 chr12 6458822 6458822 + G G A Missense_Mutation SNP ENST00000266556.8 exon5 c.G1082A p.G361D exonic ENSG00000139192.12 . nonsynonymous SNV ENSG00000139192.12:ENST00000266556.8:exon5:c.G1082A:p.G361D 12p13.31 C3L-00606 8.239e-06 0 0 0 0 0 0 6.056e-05 rs781465778 13.19 D D D D D D M T D 0.848 T T D 0.504 0.707 0.698 0.837 T T D D D T 4.003 27.000 0.998 D . 0.879 10.528 0.790 9.823 1.000 0.646 0.696 0.537 0.636 . 5.220 5.220 7.319 1.176 0.676 1.000 0.781 0.316 867 Immunoglobulin-like_domain;Immunoglobulin_C1-set . . . TAPBPL 276 0 304 106 0.258536585365854 TRUE NA +ENSG00000227059.7 . BCM GRCh38.p13 chr12 133234211 133234211 + C C A Missense_Mutation SNP ENST00000419717.3 exon2 c.G146T p.S49I exonic ENSG00000227059.7 . nonsynonymous SNV ENSG00000227059.7:ENST00000419717.3:exon2:c.G146T:p.S49I 12q24.33 C3L-00606 . . . . . . . . . 6.19 D D D D . N M T N 0.356 T T T 0.224 0.566 0.517 . T T T T D T 3.223 23.900 0.994 N N 0.039 2.652 -0.154 1.899 0.011 0.487 0.574 0.547 0.613 . 3.970 2.990 1.777 0.793 0.599 0.092 0.452 0.973 363 Homeobox_protein_SIX1,_N-terminal_SD_domain . . . ANHX 361 0 332 126 0.275109170305677 TRUE TRUE +ENSG00000182636.8 . BCM GRCh38.p13 chr15 23686853 23686853 + G G A Missense_Mutation SNP ENST00000649030.2 exon1 c.C365T p.P122L exonic ENSG00000182636.8 . nonsynonymous SNV ENSG00000182636.8:ENST00000649030.2:exon1:c.C365T:p.P122L 15q11.2 C3L-00606 . . . . . . . . . 6.20 T D P P D D N T N 0.393 T T T 0.186 0.695 0.753 1.689 T T T T D T 3.625 25.100 0.998 D D 0.148 3.082 0.185 3.113 0.998 0.726 0.574 0.594 0.568 . 3.040 3.040 3.234 1.176 0.676 1.000 0.998 0.995 988 MAGE_homology_domain . . . NDN 208 0 182 70 0.277777777777778 TRUE TRUE +ENSG00000136381.13 . BCM GRCh38.p13 chr15 78485738 78485738 + T T C Missense_Mutation SNP ENST00000258886.13 exon13 c.T1607C p.L536P exonic ENSG00000136381.13 . nonsynonymous SNV ENSG00000136381.13:ENST00000258886.13:exon13:c.T1607C:p.L536P 15q25.1 C3L-00606 . . . . . . . . . 17.20 D D D D D D H T D 0.941 D T D 0.746 0.802 0.649 1.322 T D D D D D 4.164 28.300 0.999 D D 0.966 12.882 0.878 12.844 1.000 0.719 0.725 0.725 0.734 . 5.990 5.990 7.619 1.138 0.665 1.000 0.720 0.867 764 Aconitase/3-isopropylmalate_dehydratase_large_subunit,_alpha/beta/alpha_domain . . . IREB2 83 0 111 36 0.244897959183673 TRUE TRUE +ENSG00000166825.14 . BCM GRCh38.p13 chr15 89797662 89797665 + TCTC TCTC - Frame_Shift_Del DEL ENST00000300060.7 exon15 c.2067_2070del p.E689Dfs*10 exonic ENSG00000166825.14 . frameshift deletion ENSG00000166825.14:ENST00000300060.7:exon15:c.2067_2070del:p.E689Dfs*10 15q26.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANPEP 233 0 133 39 0.226744186046512 TRUE TRUE +ENSG00000213471.10 . BCM GRCh38.p13 chr15 90264899 90264899 + C C T Missense_Mutation SNP ENST00000438251.3 exon15 c.C2380T p.L794F exonic ENSG00000213471.10 . nonsynonymous SNV ENSG00000213471.10:ENST00000438251.3:exon15:c.C2380T:p.L794F 15q26.1 C3L-00606 . . . . . . . . . 0.9 . . . . . N L . . . T T T 0.023 . . . . T . . . T 2.734 22.900 0.998 N N -0.189 1.907 -0.249 1.674 1.000 0.394 0.406 0.044 0.466 . 4.880 1.720 0.113 1.026 0.549 0.439 0.758 0.402 671 . . . . TTLL13P 228 0 188 63 0.250996015936255 TRUE NA +ENSG00000140798.16 . BCM GRCh38.p13 chr16 48115560 48115560 + C C T Missense_Mutation SNP ENST00000311303.7 exon13 c.G1844A p.R615H exonic ENSG00000140798.16 . nonsynonymous SNV ENSG00000140798.16:ENST00000311303.7:exon13:c.G1844A:p.R615H 16q12.1 C3L-00606 2.48e-05 0 0 0 0 4.514e-05 0 0 rs547878738 19.20 D D D D D D H D D 0.886 D D D 0.896 0.980 0.913 0.670 T D D D D D 3.128 23.700 0.999 D D 0.538 5.346 0.358 4.071 1.000 0.428 0.547 0.547 0.613 . 5.090 4.140 6.163 -0.236 -0.193 1.000 0.138 0.142 508 ABC_transporter-like;AAA+_ATPase_domain;ABC_transporter,_conserved_site . . ID=COSV60911544;OCCURENCE=1(large_intestine),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(upper_aerodigestive_tract),1(endometrium) ABCC12 138 0 170 39 0.186602870813397 TRUE TRUE +ENSG00000125686.12 . BCM GRCh38.p13 chr17 39410624 39410624 + C C T Missense_Mutation SNP ENST00000300651.11 exon17 c.G1597A p.E533K exonic ENSG00000125686.12 . nonsynonymous SNV ENSG00000125686.12:ENST00000300651.11:exon17:c.G1597A:p.E533K 17q12 C3L-00606 . . . . . . . . . 13.19 D D D D . D L T N 0.757 T T D 0.413 0.564 0.756 1.018 D T D D D D 4.132 28.000 0.999 D D 0.684 6.906 0.734 8.449 1.000 0.707 0.725 0.725 0.714 . 5.800 5.800 7.539 1.026 0.599 1.000 1.000 1.000 446 . . . . MED1 147 0 154 47 0.233830845771144 TRUE TRUE +ENSG00000136485.15 . BCM GRCh38.p13 chr17 63589057 63589057 + A A T Missense_Mutation SNP ENST00000614556.5 exon7 c.A914T p.D305V exonic ENSG00000136485.15 . nonsynonymous SNV ENSG00000136485.15:ENST00000614556.5:exon7:c.A914T:p.D305V 17q23.3 C3L-00606 . . . . . . . . . 13.19 D D P P D D . T D 0.786 T T D 0.640 0.617 0.603 2.910 D T D D D D 4.223 28.900 0.993 D D 0.553 5.476 0.588 6.081 1.000 0.707 0.725 0.725 0.714 . 4.950 4.950 9.109 1.312 0.756 1.000 1.000 0.992 912 . . . . DCAF7 166 0 183 51 0.217948717948718 TRUE TRUE +ENSG00000256683.7 . BCM GRCh38.p13 chr19 51965290 51965290 + T T A Missense_Mutation SNP ENST00000243644.9 exon5 c.A1163T p.K388M exonic ENSG00000256683.7 . nonsynonymous SNV ENSG00000256683.7:ENST00000243644.9:exon5:c.A1163T:p.K388M 19q13.41 C3L-00606 . . . . . . . . . 0.20 T T B B N N L T N 0.161 T T T 0.018 0.454 0.246 0.876 T T T T T T 1.301 14.400 0.962 N N -0.690 0.830 -0.709 0.887 0.001 0.632 0.698 0.609 0.636 . 3.410 2.310 -2.294 0.933 0.601 0.000 1.000 0.993 982 Zinc_finger_C2H2-type . . . ZNF350 152 0 188 58 0.235772357723577 TRUE TRUE +ENSG00000101331.17 . BCM GRCh38.p13 chr20 32022661 32022661 + A A T Missense_Mutation SNP ENST00000452892.3 exon6 c.A935T p.D312V exonic ENSG00000101331.17 . nonsynonymous SNV ENSG00000101331.17:ENST00000452892.3:exon6:c.A935T:p.D312V 20q11.21 C3L-00606 . . . . . . . . . 10.20 T D D P D D L T D 0.791 T T D 0.237 0.265 0.480 2.099 T T D T D T 3.102 23.600 0.990 D D 0.416 4.447 0.436 4.623 1.000 0.706 0.563 0.710 0.655 . 5.410 5.410 1.734 1.312 0.756 0.800 0.899 0.531 505 . . . . CCM2L 64 0 67 46 0.407079646017699 TRUE TRUE +ENSG00000088298.13 . BCM GRCh38.p13 chr20 35146881 35146894 + GGCATTCTCCAGGT GGCATTCTCCAGGT - Frame_Shift_Del DEL ENST00000374492.8 exon2 c.149_162del p.Y50Ffs*5 exonic ENSG00000088298.13 . frameshift deletion ENSG00000088298.13:ENST00000374492.8:exon2:c.149_162del:p.Y50Ffs*5 20q11.22 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EDEM2 260 0 221 30 0.119521912350598 TRUE TRUE +ENSG00000100139.13 . BCM GRCh38.p13 chr22 37925859 37925859 + T T A Missense_Mutation SNP ENST00000215957.10 exon8 c.T1281A p.F427L exonic ENSG00000100139.13 . nonsynonymous SNV ENSG00000100139.13:ENST00000215957.10:exon8:c.T1281A:p.F427L 22q13.1 C3L-00606 . . . . . . . . . 9.20 D T D P D D M T D 0.449 T T D 0.197 0.128 0.666 0.888 T T T T D T 2.986 23.400 0.985 D N -0.215 1.835 -0.303 1.558 0.379 0.707 0.725 0.723 0.714 . 5.230 -1.890 0.389 1.138 0.665 0.999 0.997 0.819 862 . . . . MICALL1 180 0 184 66 0.264 TRUE TRUE +ENSG00000130540.14 . BCM GRCh38.p13 chr22 43833663 43833663 + G G C Missense_Mutation SNP ENST00000330884.9 exon5 c.C580G p.L194V exonic ENSG00000130540.14 . nonsynonymous SNV ENSG00000130540.14:ENST00000330884.9:exon5:c.C580G:p.L194V 22q13.31 C3L-00606 . . . . . . . . . 18.20 D T D D D D L D D 0.562 D D D 0.729 0.779 0.325 1.882 D D D D D D 3.829 26.000 0.998 D D 0.501 5.047 0.528 5.427 1.000 0.696 0.590 0.723 0.605 . 5.010 5.010 4.367 1.172 0.672 1.000 1.000 0.993 899 Sulfotransferase_domain . . . SULT4A1 73 0 84 22 0.207547169811321 TRUE TRUE +ENSG00000130638.17 . BCM GRCh38.p13 chr22 45806998 45806998 + T T C Missense_Mutation SNP ENST00000252934.10 exon10 c.T1213C p.C405R exonic ENSG00000130638.17 . nonsynonymous SNV ENSG00000130638.17:ENST00000252934.10:exon10:c.T1213C:p.C405R 22q13.31 C3L-00606 . . . . . . . . . 16.20 D D D D D D M T D 0.866 T T D 0.346 0.849 0.577 0.261 T D D D D D 3.659 25.300 0.997 D D 0.249 3.525 0.226 3.315 1.000 0.722 0.725 0.710 0.735 . 5.310 4.250 2.351 0.073 0.665 1.000 0.807 0.285 687 Ataxin-10_domain . . . ATXN10 226 0 302 104 0.25615763546798 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146637 10146637 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon2:c.463+1G>C . . 3p25.3 C3L-00606 . . . . . . . . rs869025657 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.988 35 0.995 D . 1.065 16.105 0.890 13.336 1.000 0.164 0.194 0.232 0.082 0.977 4.660 4.660 7.677 1.176 0.676 1.000 0.996 0.970 370 . . . ID=COSV56552736;OCCURENCE=2(kidney) VHL 277 0 230 121 0.344729344729345 TRUE TRUE +ENSG00000133265.11 . BCM GRCh38.p13 chr19 55279703 55279703 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000133265.11 ENST00000433386.7:exon2:UTR5 . . 19q13.42 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HSPBP1 345 0 199 64 0.243346007604563 TRUE NA +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39333923 39333923 + T T A Silent SNP ENST00000372915.7 exon36 c.T7350A p.A2450A exonic ENSG00000127603.29 . synonymous SNV ENSG00000127603.29:ENST00000372915.7:exon36:c.T7350A:p.A2450A 1p34.3 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MACF1 126 0 126 52 0.292134831460674 TRUE NA +ENSG00000027869.11 . BCM GRCh38.p13 chr1 156815102 156815102 + G G T Silent SNP ENST00000368199.7 exon3 c.C243A p.T81T exonic ENSG00000027869.11 . synonymous SNV ENSG00000027869.11:ENST00000368199.7:exon3:c.C243A:p.T81T 1q23.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SH2D2A 66 0 57 28 0.329411764705882 TRUE TRUE +ENSG00000158773.14 . BCM GRCh38.p13 chr1 161042642 161042642 + G G A Silent SNP ENST00000368021.7 exon4 c.C87T p.T29T exonic ENSG00000158773.14 . synonymous SNV ENSG00000158773.14:ENST00000368021.7:exon4:c.C87T:p.T29T 1q23.3 C3L-00606 . . . . . . . . rs199606185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USF1 195 0 216 65 0.231316725978648 TRUE NA +ENSG00000083857.14 . BCM GRCh38.p13 chr4 186619527 186619527 + G G T Silent SNP ENST00000441802.7 exon10 c.C7059A p.S2353S exonic ENSG00000083857.14 . synonymous SNV ENSG00000083857.14:ENST00000441802.7:exon10:c.C7059A:p.S2353S 4q35.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT1 245 0 228 75 0.247524752475248 TRUE TRUE +ENSG00000124802.12 . BCM GRCh38.p13 chr6 8102456 8102456 + G G A Silent SNP ENST00000379715.10 exon1 c.C66T p.Y22Y exonic ENSG00000124802.12;ENSG00000265818.1 . synonymous SNV ENSG00000124802.12:ENST00000379715.10:exon1:c.C66T:p.Y22Y,ENSG00000265818.1:ENST00000397456.2:exon1:c.C66T:p.Y22Y 6p24.3 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EEF1E1 151 0 117 27 0.1875 TRUE TRUE +ENSG00000152954.12 . BCM GRCh38.p13 chr6 24145607 24145607 + C C T Silent SNP ENST00000378491.9 exon4 c.C249T p.G83G exonic ENSG00000152954.12 . synonymous SNV ENSG00000152954.12:ENST00000378491.9:exon4:c.C249T:p.G83G 6p22.3 C3L-00606 . . . . . . . . rs140489181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRSN1 71 0 62 20 0.24390243902439 TRUE NA +ENSG00000170927.15 . BCM GRCh38.p13 chr6 51855932 51855932 + T T C Silent SNP ENST00000371117.8 exon49 c.A7872G p.S2624S exonic ENSG00000170927.15 . synonymous SNV ENSG00000170927.15:ENST00000371117.8:exon49:c.A7872G:p.S2624S 6p12.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKHD1 163 0 193 88 0.313167259786477 TRUE NA +ENSG00000148019.14 . BCM GRCh38.p13 chr9 78262915 78262915 + G G A Silent SNP ENST00000424347.6 exon12 c.G1389A p.L463L exonic ENSG00000148019.14 . synonymous SNV ENSG00000148019.14:ENST00000424347.6:exon12:c.G1389A:p.L463L 9q21.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEP78 34 0 56 27 0.325301204819277 TRUE TRUE +ENSG00000122882.11 . BCM GRCh38.p13 chr10 73148285 73148285 + A A G Silent SNP ENST00000372979.9 exon8 c.T1032C p.D344D exonic ENSG00000122882.11 . synonymous SNV ENSG00000122882.11:ENST00000372979.9:exon8:c.T1032C:p.D344D 10q22.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ECD 69 0 129 40 0.236686390532544 TRUE TRUE +ENSG00000152213.4 . BCM GRCh38.p13 chr13 49630480 49630480 + G G A Silent SNP ENST00000282026.2 exon2 c.G33A p.A11A exonic ENSG00000152213.4 . synonymous SNV ENSG00000152213.4:ENST00000282026.2:exon2:c.G33A:p.A11A 13q14.2 C3L-00606 1.675e-05 0 0 0 0 0 0 0.0001 rs766455088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56290961;OCCURENCE=1(stomach),1(lung) ARL11 100 1 69 31 0.31 TRUE TRUE +ENSG00000100523.16 . BCM GRCh38.p13 chr14 53091928 53091928 + T T C Silent SNP ENST00000673822.2 exon4 c.A1146G p.S382S exonic ENSG00000100523.16 . synonymous SNV ENSG00000100523.16:ENST00000673822.2:exon4:c.A1146G:p.S382S 14q22.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDHD1 34 0 94 35 0.271317829457364 TRUE TRUE +ENSG00000177200.17 . BCM GRCh38.p13 chr16 53242908 53242908 + C C T Silent SNP ENST00000447540.5 exon13 c.C2946T p.G982G exonic ENSG00000177200.17 . synonymous SNV ENSG00000177200.17:ENST00000447540.5:exon13:c.C2946T:p.G982G 16q12.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD9 135 0 288 45 0.135135135135135 TRUE TRUE +ENSG00000178297.13 . BCM GRCh38.p13 chr19 2425478 2425478 + C C T Silent SNP ENST00000649857.1 exon17 c.C3003T p.G1001G exonic ENSG00000178297.13 . synonymous SNV ENSG00000178297.13:ENST00000649857.1:exon17:c.C3003T:p.G1001G 19p13.3 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMPRSS9 129 0 79 39 0.330508474576271 TRUE NA +ENSG00000080573.7 . BCM GRCh38.p13 chr19 9968059 9968059 + G G T Silent SNP ENST00000264828.4 exon60 c.C4335A p.G1445G exonic ENSG00000080573.7 . synonymous SNV ENSG00000080573.7:ENST00000264828.4:exon60:c.C4335A:p.G1445G 19p13.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL5A3 76 0 50 4 0.0740740740740741 NA TRUE +ENSG00000101096.20 . BCM GRCh38.p13 chr20 51523494 51523494 + A A G Silent SNP ENST00000396009.7 exon2 c.T747C p.G249G exonic ENSG00000101096.20 . synonymous SNV ENSG00000101096.20:ENST00000396009.7:exon2:c.T747C:p.G249G 20q13.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65356595;OCCURENCE=1(large_intestine) NFATC2 158 0 58 27 0.317647058823529 TRUE TRUE +ENSG00000183337.17 . BCM GRCh38.p13 chrX 40074025 40074025 + G G A Silent SNP ENST00000378444.9 exon4 c.C1321T p.L441L exonic ENSG00000183337.17 . synonymous SNV ENSG00000183337.17:ENST00000378444.9:exon4:c.C1321T:p.L441L Xp11.4 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCOR 615 0 707 220 0.237324703344121 TRUE TRUE +ENSG00000130052.13 . BCM GRCh38.p13 chrX 68722610 68722610 + G G C Silent SNP ENST00000252336.10 exon11 c.G2523C p.V841V exonic ENSG00000130052.13 . synonymous SNV ENSG00000130052.13:ENST00000252336.10:exon11:c.G2523C:p.V841V Xq13.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STARD8 234 0 174 60 0.256410256410256 TRUE TRUE +ENSG00000113645.14 . BCM GRCh38.p13 chr5 168464710 168464710 + - NA C Intron SNP NA NA NA NA intronic ENSG00000113645.14 . . . 5q34 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WWC1 NA NA NA NA NA NA NA +ENSG00000137747.16 . BCM GRCh38.p13 chr11 117908432 117908432 + C C A Intron SNP NA NA NA NA intronic ENSG00000137747.16 . . . 11q23.3 C3L-00606 . . . . . . . . . 4.14 D D . . . N . D N 0.077 T T D 0.093 . 0.621 . . . T T T T 0.256 3.772 0.987 N N -0.882 0.544 -0.971 0.525 1.000 0.428 0.547 0.547 0.613 . 4.250 -0.074 0.205 -0.253 -0.190 0.000 0.000 0.002 788 . . . . TMPRSS13 16 0 20 3 0.130434782608696 NA TRUE +ENSG00000242550.6 . BCM GRCh38.p13 chr18 63907962 63907962 + G G T 5'UTR SNP NA NA NA NA UTR5 ENSG00000242550.6 ENST00000238508.8:c.-7549G>T . . 18q22.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINB10 25 0 51 5 0.0892857142857143 TRUE TRUE +ENSG00000101871.15 . BCM GRCh38.p13 chrX 10475080 10475080 + C C A Intron SNP NA NA NA NA intronic ENSG00000101871.15 . . . Xp22.2 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MID1 286 0 295 100 0.253164556962025 TRUE NA +ENSG00000208012.1 . BCM GRCh38.p13 chrX 53557253 53557253 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000208012.1 . . . Xp11.22 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIRLET7F2 109 0 109 25 0.186567164179104 TRUE NA +ENSG00000137207.12 . BCM GRCh38.p13 chr6 43516018 43516019 + CA CA GG Unknown MNP ENST00000372422.7 exon2 c.158_159delinsCC p.L53P exonic ENSG00000137207.12 . nonframeshift substitution ENSG00000137207.12:ENST00000372422.7:exon2:c.158_159delinsCC:p.L53P 6p21.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YIPF3 250 57 172 57 0.248908296943231 TRUE TRUE +ENSG00000179055.7 . BCM GRCh38.p13 chr9 104695364 104695365 + CC CC AG Unknown MNP ENST00000318763.7 exon1 c.943_944delinsAG p.P315R exonic ENSG00000179055.7 . nonframeshift substitution ENSG00000179055.7:ENST00000318763.7:exon1:c.943_944delinsAG:p.P315R 9q31.1 C3L-00606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR13D1 36 24 63 25 0.284090909090909 TRUE TRUE +ENSG00000049089.15 . BCM GRCh38.p13 chr1 40311128 40311128 + C C A Missense_Mutation SNP ENST00000372748.8 exon12 c.G595T p.G199W exonic ENSG00000049089.15 . nonsynonymous SNV ENSG00000049089.15:ENST00000372748.8:exon12:c.G595T:p.G199W 1p34.2 C3L-00607 . . . . . . . . . 19.20 D D D D D D H D D 0.930 D D D 0.935 0.807 0.956 1.004 T D D D D D 3.441 24.500 0.989 D D 0.456 4.714 0.370 4.155 1.000 0.632 0.581 0.780 0.584 . 5.630 5.630 3.405 1.022 0.596 0.968 0.088 0.016 410 . . . . COL9A2 526 0 494 124 0.200647249190939 TRUE TRUE +ENSG00000132780.17 . BCM GRCh38.p13 chr1 45606534 45606534 + G G C Missense_Mutation SNP ENST00000350030.8 exon5 c.G352C p.E118Q exonic ENSG00000132780.17 . nonsynonymous SNV ENSG00000132780.17:ENST00000350030.8:exon5:c.G352C:p.E118Q 1p34.1 C3L-00607 . . . . . . . . . 17.20 D D D D D D M D N 0.439 D D D 0.532 0.187 0.941 0.237 T T D D D D 3.885 26.300 0.998 D D 0.711 7.282 0.680 7.389 1.000 0.722 0.725 0.702 0.735 . 4.120 4.120 4.883 1.101 0.590 1.000 1.000 0.999 200 . . . . NASP 149 0 110 26 0.191176470588235 TRUE TRUE +ENSG00000159450.12 . BCM GRCh38.p13 chr1 152109373 152109373 + C C T Missense_Mutation SNP ENST00000614923.1 exon3 c.G3844A p.E1282K exonic ENSG00000159450.12 . nonsynonymous SNV ENSG00000159450.12:ENST00000614923.1:exon3:c.G3844A:p.E1282K 1q21.3 C3L-00607 . . . . . . . . . 2.19 D D B B . N L T N 0.113 T T T 0.040 0.396 0.235 0.299 T T T T T T 1.253 14.040 0.895 N N -1.163 0.254 -1.208 0.276 1.000 0.765 0.627 0.732 0.527 . 3.970 -0.247 -1.651 0.949 0.530 0.000 0.010 0.057 478 . . . . TCHH 205 1 159 44 0.216748768472906 TRUE TRUE +ENSG00000160710.17 . BCM GRCh38.p13 chr1 154586217 154586217 + A A C Missense_Mutation SNP ENST00000368474.9 exon12 c.T3166G p.F1056V exonic ENSG00000160710.17 . nonsynonymous SNV ENSG00000160710.17:ENST00000368474.9:exon12:c.T3166G:p.F1056V 1q21.3 C3L-00607 . . . . . . . . . 19.20 D D D D D D M D D 0.840 D D D 0.958 0.717 0.993 2.298 T D D D D D 4.250 29.100 0.993 D D 0.812 9.011 0.798 10.061 1.000 0.722 0.699 0.702 0.735 . 5.580 5.580 8.650 1.312 0.756 1.000 1.000 0.997 492 Adenosine_deaminase/editase . . . ADAR 265 0 226 67 0.228668941979522 TRUE TRUE +ENSG00000116711.10 . BCM GRCh38.p13 chr1 186946933 186946933 + C C A Missense_Mutation SNP ENST00000367466.4 exon12 c.C1236A p.S412R exonic ENSG00000116711.10 . nonsynonymous SNV ENSG00000116711.10:ENST00000367466.4:exon12:c.C1236A:p.S412R 1q31.1 C3L-00607 . . . . . . . . . 2.20 D T B B N N L T N 0.299 T T T 0.020 0.629 0.484 0.671 T T T T T T 1.176 13.440 0.959 D N -0.589 1.007 -0.528 1.157 0.076 0.653 0.588 0.574 0.669 . 5.710 0.877 0.384 0.177 -0.223 0.802 0.997 0.837 794 Lysophospholipase,_catalytic_domain . . . PLA2G4A 247 0 173 36 0.172248803827751 TRUE TRUE +ENSG00000118965.15 . BCM GRCh38.p13 chr2 19946473 19946473 + T T A Missense_Mutation SNP ENST00000345530.7 exon16 c.A1655T p.N552I exonic ENSG00000118965.15 . nonsynonymous SNV ENSG00000118965.15:ENST00000345530.7:exon16:c.A1655T:p.N552I 2p24.1 C3L-00607 . . . . . . . . . 18.20 D D D D D D M T D 0.980 D D D 0.800 0.838 0.911 0.615 T D D D D D 4.169 28.400 0.994 D D 0.929 11.838 0.878 12.846 1.000 0.706 0.634 0.710 0.655 . 5.900 5.900 8.005 1.138 0.665 1.000 0.982 0.973 945 . . . . WDR35 313 0 87 18 0.171428571428571 TRUE TRUE +ENSG00000118965.15 . BCM GRCh38.p13 chr2 19946481 19946481 + T T G Missense_Mutation SNP ENST00000345530.7 exon16 c.A1647C p.L549F exonic ENSG00000118965.15 . nonsynonymous SNV ENSG00000118965.15:ENST00000345530.7:exon16:c.A1647C:p.L549F 2p24.1 C3L-00607 . . . . . . . . . 13.20 D D D P D D M T D 0.590 T T D 0.527 0.475 0.792 0.326 T T D D D D 2.868 23.100 0.999 D N 0.208 3.340 0.103 2.747 0.361 0.706 0.634 0.710 0.655 . 5.900 -1.220 -0.034 1.138 0.665 0.898 1.000 0.995 945 . . . . WDR35 313 0 87 17 0.163461538461538 TRUE TRUE +ENSG00000119772.16 . BCM GRCh38.p13 chr2 25246761 25246761 + C C T Missense_Mutation SNP ENST00000264709.7 exon10 c.G1138A p.A380T exonic ENSG00000119772.16 . nonsynonymous SNV ENSG00000119772.16:ENST00000264709.7:exon10:c.G1138A:p.A380T 2p23.3 C3L-00607 3.371e-05 0.0002 0 0 0 3.08e-05 0 0 rs762563426 8.20 D T D B D D L T N 0.628 T T D 0.257 . 0.494 1.498 T D T T T D 1.906 18.540 0.992 D N -0.132 2.076 -0.209 1.764 1.000 0.707 0.725 0.702 0.714 . 4.870 3.970 3.177 0.148 -0.233 0.994 0.065 0.310 535 . . . ID=COSV53050639;OCCURENCE=3(large_intestine),1(soft_tissue) DNMT3A 96 0 67 23 0.255555555555556 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178607930 178607930 + G G T Nonsense_Mutation SNP ENST00000591111.5 exon226 c.C47934A p.C15978X exonic ENSG00000155657.27 . stopgain ENSG00000155657.27:ENST00000591111.5:exon226:c.C47934A:p.C15978X 2q31.2 C3L-00607 . . . . . . . . rs1057520724 4.5 . . . . . A . . . 0.965 . . . . . . . . . D D . . 11.661 60 0.984 D N 0.847 9.781 0.669 7.208 0.008 0.651 0.709 0.447 0.621 . 6.050 2.870 1.732 1.176 0.676 1.000 1.000 0.999 415 Fibronectin_type_III . . . TTN 444 1 371 101 0.213983050847458 TRUE NA +ENSG00000183833.16 . BCM GRCh38.p13 chr3 119715588 119715588 + C C A Missense_Mutation SNP ENST00000273390.9 exon6 c.C527A p.T176N exonic ENSG00000183833.16;ENSG00000285585.1 . nonsynonymous SNV ENSG00000183833.16:ENST00000273390.9:exon6:c.C527A:p.T176N,ENSG00000285585.1:ENST00000648112.1:exon6:c.C527A:p.T176N 3q13.33 C3L-00607 . . . . . . . . . 0.19 T T P B N N . T N 0.138 T T T 0.034 0.199 0.183 0.159 T T T T T T 0.522 6.733 0.971 N N -0.832 0.610 -0.857 0.678 0.000 0.638 0.588 0.653 0.564 . 4.790 0.363 0.194 -0.311 0.549 0.000 0.001 0.720 625 . . . . MAATS1 212 0 91 49 0.35 TRUE TRUE +ENSG00000121879.5 . BCM GRCh38.p13 chr3 179218294 179218294 + G G A Missense_Mutation SNP ENST00000263967.4 exon10 c.G1624A p.E542K exonic ENSG00000121879.5 . nonsynonymous SNV ENSG00000121879.5:ENST00000263967.4:exon10:c.G1624A:p.E542K 3q26.32 C3L-00607 . . . . . . . . rs121913273 14.20 D T D D D D L T N 0.957 T T D 0.439 0.719 0.877 2.798 D D D D D D 4.466 32 0.999 D D 0.612 6.048 0.672 7.254 1.000 0.732 0.710 0.659 0.728 . 5.780 5.780 9.602 1.176 0.618 1.000 1.000 0.997 799 Phosphoinositide_3-kinase,_accessory_(PIK)_domain . . ID=COSV55873227;OCCURENCE=11(salivary_gland),611(breast),8(penis),12(liver),2(genital_tract),29(oesophagus),56(cervix),462(large_intestine),25(central_nervous_system),11(biliary_tract),6(vulva),39(ovary),1(bone),4(NS),4(haematopoietic_and_lymphoid_tissue),40(stomach),16(soft_tissue),14(kidney),110(urinary_tract),5(pancreas),5(gastrointestinal_tract_(site_indeterminate)),1(pituitary),34(skin),8(prostate),68(lung),27(thyroid),75(upper_aerodigestive_tract),3(testis),1(thymus),3(small_intestine),81(endometrium) PIK3CA 120 0 48 5 0.0943396226415094 NA TRUE +ENSG00000013288.9 . BCM GRCh38.p13 chr4 6611266 6611266 + G G A Missense_Mutation SNP ENST00000285599.8 exon15 c.G2551A p.G851R exonic ENSG00000013288.9 . nonsynonymous SNV ENSG00000013288.9:ENST00000285599.8:exon15:c.G2551A:p.G851R 4p16.1 C3L-00607 8.8e-06 0 0 0 0 1.573e-05 0 0 rs778596906 1.20 T T B B N N N D N 0.147 T T T 0.238 0.639 0.345 0.150 T T T T T T 0.261 3.836 0.552 N N -1.122 0.288 -1.076 0.401 0.021 0.707 0.702 0.673 0.714 . 4.800 -1.530 1.214 -0.105 0.672 0.741 0.010 0.174 982 Glycosyl_hydrolase_family_38,_C-terminal . . ID=COSV53450598;OCCURENCE=1(stomach) MAN2B2 56 0 38 11 0.224489795918367 TRUE TRUE +ENSG00000135220.11 . BCM GRCh38.p13 chr4 68931153 68931155 + ACC ACC - Frame_Shift_Del DEL ENST00000251566.9 exon4 c.1084delG p.G362Vfs*14 exonic ENSG00000135220.11 . frameshift deletion ENSG00000135220.11:ENST00000251566.9:exon4:c.1084delG:p.G362Vfs*14 4q13.2 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UGT2A3 110 0 27 14 0.341463414634146 NA TRUE +ENSG00000168769.13 . BCM GRCh38.p13 chr4 105234490 105234490 + - NA TT Frame_Shift_Ins INS ENST00000540549.5 exon3 c.548_549insTT p.E184Lfs*24 exonic ENSG00000168769.13 . frameshift insertion ENSG00000168769.13:ENST00000540549.5:exon3:c.548_549insTT:p.E184Lfs*24 4q24 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TET2 NA NA NA NA NA NA NA +ENSG00000138660.12 . BCM GRCh38.p13 chr4 112268153 112268153 + G G C Missense_Mutation SNP ENST00000274000.10 exon10 c.G653C p.R218T exonic ENSG00000138660.12 . nonsynonymous SNV ENSG00000138660.12:ENST00000274000.10:exon10:c.G653C:p.R218T 4q25 C3L-00607 . . . . . . . . . 14.20 D D D P D D M T D 0.730 T T D 0.334 0.296 0.595 1.045 T T D D D D 4.059 27.400 0.985 D D 0.777 8.347 0.782 9.605 1.000 0.732 0.634 0.725 0.728 . 5.420 5.420 9.184 1.175 0.676 1.000 0.974 0.998 951 . . . ID=COSV56770241;OCCURENCE=1(skin) AP1AR 29 0 11 4 0.266666666666667 TRUE TRUE +ENSG00000134986.14 . BCM GRCh38.p13 chr5 111735467 111735467 + G G A Missense_Mutation SNP ENST00000257435.12 exon3 c.C44T p.P15L exonic ENSG00000134986.14 . nonsynonymous SNV ENSG00000134986.14:ENST00000257435.12:exon3:c.C44T:p.P15L 5q22.1 C3L-00607 . . . . . . . . . 8.19 D D B B N D . T D 0.291 T T D 0.204 0.365 0.695 0.746 T T T T D D 2.662 22.800 0.996 D N -0.061 2.302 0.088 2.686 1.000 0.732 0.710 0.710 0.728 . 5.550 4.680 2.856 1.176 0.676 0.998 1.000 0.998 867 . . . . NREP 120 1 56 8 0.125 TRUE TRUE +ENSG00000133835.17 . BCM GRCh38.p13 chr5 119474447 119474447 + T T - Frame_Shift_Del DEL ENST00000510025.7 exon4 c.267delT p.F90Lfs*4 exonic ENSG00000133835.17 . frameshift deletion ENSG00000133835.17:ENST00000510025.7:exon4:c.267delT:p.F90Lfs*4 5q23.1 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HSD17B4 292 0 121 73 0.376288659793814 TRUE NA +ENSG00000134516.18 . BCM GRCh38.p13 chr5 169983113 169983113 + G G A Missense_Mutation SNP ENST00000520908.7 exon28 c.G2845A p.D949N exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon28:c.G2845A:p.D949N 5q35.1 C3L-00607 . . . . . . . . . 6.20 D T B B D D L T N 0.186 T T T 0.104 0.465 0.514 0.520 T T T T D D 2.963 23.300 0.998 D N -0.112 2.137 0.076 2.638 1.000 0.707 0.725 0.653 0.613 . 5.220 5.220 1.890 1.176 0.676 0.983 0.993 0.998 960 . . . . DOCK2 151 0 149 30 0.167597765363128 TRUE NA +ENSG00000204619.8 . BCM GRCh38.p13 chr6 30069143 30069143 + G G C Missense_Mutation SNP ENST00000376772.8 exon3 c.G218C p.S73T exonic ENSG00000204619.8 . nonsynonymous SNV ENSG00000204619.8:ENST00000376772.8:exon3:c.G218C:p.S73T 6p22.1 C3L-00607 . . . . . . . . . 11.18 D D D D D D M . D 0.515 T T T 0.312 0.523 0.410 2.032 T T D T D . 3.697 25.400 0.996 D N 0.673 6.761 0.605 6.285 1.000 0.732 0.744 0.744 0.728 . 5.400 4.540 4.415 1.162 0.660 1.000 1.000 0.995 862 . . . . PPP1R11 204 0 181 46 0.202643171806167 NA TRUE +ENSG00000179165.11 . BCM GRCh38.p13 chr6 36426001 36426001 + A A C Missense_Mutation SNP ENST00000454782.3 exon3 c.T82G p.S28A exonic ENSG00000179165.11 . nonsynonymous SNV ENSG00000179165.11:ENST00000454782.3:exon3:c.T82G:p.S28A 6p21.31 C3L-00607 . . . . . . . . . 2.16 T D . . . N N . N 0.281 T T T 0.016 0.278 0.196 0.005 T T T T T T 1.673 16.850 0.990 D N 0.012 2.554 0.012 2.401 0.867 0.497 0.573 0.547 0.542 . 4.630 2.240 1.546 1.312 0.756 0.955 0.980 0.996 452 . . . . PXT1 242 0 224 53 0.191335740072202 TRUE TRUE +ENSG00000146216.13 . BCM GRCh38.p13 chr6 43252855 43252855 + G G T Missense_Mutation SNP ENST00000259750.9 exon3 c.G225T p.K75N exonic ENSG00000146216.13 . nonsynonymous SNV ENSG00000146216.13:ENST00000259750.9:exon3:c.G225T:p.K75N 6p21.1 C3L-00607 . . . . . . . . . 14.20 D D D D D D M T D 0.713 T T D 0.525 0.557 0.640 2.795 D T T T D D 4.153 28.200 0.998 D D 0.630 6.239 0.585 6.043 0.999 0.615 0.588 0.659 0.563 . 4.510 4.510 4.022 0.226 0.618 1.000 1.000 0.996 372 Protein_kinase_domain . . . TTBK1 169 0 136 54 0.284210526315789 TRUE NA +ENSG00000153294.12 . BCM GRCh38.p13 chr6 47715166 47715166 + - NA AT Frame_Shift_Ins INS ENST00000283303.3 exon6 c.1921_1922insAT p.A642Mfs*19 exonic ENSG00000153294.12 . frameshift insertion ENSG00000153294.12:ENST00000283303.3:exon6:c.1921_1922insAT:p.A642Mfs*19 6p12.3 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRF4 NA NA NA NA NA NA NA +ENSG00000146530.14 . BCM GRCh38.p13 chr7 12331191 12331191 + G G A Missense_Mutation SNP ENST00000275358.8 exon29 c.C4765T p.R1589C exonic ENSG00000146530.14 . nonsynonymous SNV ENSG00000146530.14:ENST00000275358.8:exon29:c.C4765T:p.R1589C 7p21.3 C3L-00607 . . . . . . . . rs1004135106 4.20 D D P B N N L D N 0.101 T T D 0.277 . 0.694 . T T T T T T 1.709 17.090 0.994 N N -0.568 1.046 -0.693 0.910 0.934 0.706 0.574 0.710 0.564 . 3.980 1.220 0.098 1.062 0.676 0.010 0.133 0.076 851 . . . . VWDE 90 0 41 5 0.108695652173913 TRUE NA +ENSG00000155849.15 . BCM GRCh38.p13 chr7 37224948 37224948 + T T C Missense_Mutation SNP ENST00000310758.8 exon9 c.A632G p.N211S exonic ENSG00000155849.15 . nonsynonymous SNV ENSG00000155849.15:ENST00000310758.8:exon9:c.A632G:p.N211S 7p14.1 C3L-00607 8.246e-06 0 0 0 0 1.499e-05 0 0 rs774843181 6.20 T T P P D D L T N 0.722 T T T 0.136 0.399 0.641 1.547 T T T T D D 2.814 23.000 0.982 D D 0.250 3.534 0.363 4.108 1.000 0.719 0.723 0.688 0.734 . 5.400 5.400 8.014 1.138 0.665 1.000 0.987 0.993 933 Domain_of_unknown_function_DUF3361 . . . ELMO1 233 0 308 50 0.139664804469274 TRUE NA +ENSG00000106536.21 . BCM GRCh38.p13 chr7 39207432 39207432 + G G C Missense_Mutation SNP ENST00000403058.6 exon5 c.G323C p.G108A exonic ENSG00000106536.21 . nonsynonymous SNV ENSG00000106536.21:ENST00000403058.6:exon5:c.G323C:p.G108A 7p14.1 C3L-00607 . . . . . . . . . 15.20 D D D D N D L D D 0.931 D D T 0.417 0.197 0.981 0.609 T T D D D D 3.811 25.900 0.999 D D 0.858 10.023 0.893 13.451 1.000 0.554 0.563 0.602 0.564 . 6.170 6.170 9.602 1.176 0.676 1.000 0.968 0.903 783 . . . . POU6F2 127 0 174 32 0.155339805825243 TRUE TRUE +ENSG00000005471.18 . BCM GRCh38.p13 chr7 87426789 87426789 + T T A Missense_Mutation SNP ENST00000265723.8 exon16 c.A2025T p.Q675H exonic ENSG00000005471.18 . nonsynonymous SNV ENSG00000005471.18:ENST00000265723.8:exon16:c.A2025T:p.Q675H 7q21.12 C3L-00607 . . . . . . . . . 2.19 T T B B . N L D N 0.134 T T D 0.128 0.239 0.511 0.260 T T T T T T 0.234 3.515 0.927 N N -1.020 0.383 -1.061 0.417 0.004 0.615 0.634 0.618 0.542 . 4.840 -0.357 0.029 0.054 0.665 0.000 0.031 0.057 469 . . . . ABCB4 307 1 142 45 0.240641711229947 TRUE TRUE +ENSG00000106348.18 . BCM GRCh38.p13 chr7 128400823 128400823 + C C A Missense_Mutation SNP ENST00000338791.11 exon7 c.G573T p.K191N exonic ENSG00000106348.18 . nonsynonymous SNV ENSG00000106348.18:ENST00000338791.11:exon7:c.G573T:p.K191N 7q32.1 C3L-00607 . . . . . . . . . 15.19 D D D P D D . T D 0.773 D D D 0.583 0.605 0.937 1.491 D D T T D D 3.158 23.800 0.998 D D 0.410 4.407 0.301 3.721 0.857 0.707 0.698 0.644 0.714 . 4.690 2.870 0.223 1.026 0.599 0.985 1.000 0.999 483 IMP_dehydrogenase/GMP_reductase . . . IMPDH1 421 1 370 101 0.214437367303609 TRUE NA +ENSG00000168453.15 . BCM GRCh38.p13 chr8 22125712 22125712 + T T C Missense_Mutation SNP ENST00000381418.9 exon4 c.A1426G p.S476G exonic ENSG00000168453.15 . nonsynonymous SNV ENSG00000168453.15:ENST00000381418.9:exon4:c.A1426G:p.S476G 8p21.3 C3L-00607 . . . . . . . . . 0.20 T T B B N N L T N 0.137 T T T 0.053 0.214 0.609 0.148 T T T T T T 0.462 6.101 0.452 N N -0.953 0.456 -0.971 0.526 1.000 0.497 0.590 0.578 0.613 . 4.980 -0.836 -0.352 0.197 0.609 0.002 0.079 0.478 598 . . . . HR 213 0 222 62 0.21830985915493 TRUE TRUE +ENSG00000157168.20 . BCM GRCh38.p13 chr8 32614523 32614523 + C C G Missense_Mutation SNP ENST00000405005.7 exon4 c.C410G p.T137S exonic ENSG00000157168.20 . nonsynonymous SNV ENSG00000157168.20:ENST00000405005.7:exon4:c.C410G:p.T137S 8p12 C3L-00607 . . . . . . . . . 6.20 D T P P N D L T N 0.243 T T D 0.137 0.252 0.622 0.201 T T T T D T 2.156 20.500 0.996 D D 0.269 3.625 0.383 4.243 1.000 0.745 0.574 0.659 0.762 . 5.670 5.670 2.289 1.026 0.599 1.000 1.000 0.995 614 . . . . NRG1 119 0 84 5 0.0561797752808989 NA TRUE +ENSG00000169436.17 . BCM GRCh38.p13 chr8 138826684 138826684 + C C A Missense_Mutation SNP ENST00000303045.11 exon6 c.G943T p.V315F exonic ENSG00000169436.17 . nonsynonymous SNV ENSG00000169436.17:ENST00000303045.11:exon6:c.G943T:p.V315F 8q24.23 C3L-00607 8.238e-06 0 0 0 0 1.499e-05 0 0 rs147583696 8.20 D D D P N D M T N 0.660 T T T 0.238 . 0.238 0.113 T T T T T D 3.426 24.500 0.996 D D 0.446 4.643 0.408 4.413 0.479 0.693 0.574 0.659 0.564 . 5.210 4.340 1.438 1.022 0.596 1.000 1.000 1.000 982 Laminin_G_domain . . . COL22A1 152 0 157 46 0.226600985221675 TRUE NA +ENSG00000277494.2 . BCM GRCh38.p13 chr8 143215295 143215295 + C C G Missense_Mutation SNP ENST00000622500.2 exon4 c.C332G p.T111R exonic ENSG00000277494.2 . nonsynonymous SNV ENSG00000277494.2:ENST00000622500.2:exon4:c.C332G:p.T111R 8q24.3 C3L-00607 8.341e-06 9.796e-05 0 0 0 0 0 0 rs762969345 2.12 . D . . N N . . . 0.139 T T D 0.130 0.556 0.544 . T . T T T . 1.819 17.870 0.966 N N -0.580 1.025 -0.699 0.901 0.139 0.517 0.588 0.479 0.563 . 4.390 2.520 -0.039 0.947 0.599 0.000 0.016 0.029 981 . . . . GPIHBP1 236 0 211 62 0.227106227106227 TRUE NA +ENSG00000177853.14 . BCM GRCh38.p13 chr10 96157145 96157145 + G G A Missense_Mutation SNP ENST00000624776.3 exon6 c.G823A p.E275K exonic ENSG00000177853.14 . nonsynonymous SNV ENSG00000177853.14:ENST00000624776.3:exon6:c.G823A:p.E275K 10q24.1 C3L-00607 . . . . . . . . . 2.10 . D P B . . N . . 0.216 . . . . . 0.138 . T T T T . T 3.080 23.600 0.820 D . . . . . 0.997 0.156 0.156 0.172 0.221 0.964 5.490 5.490 5.219 1.176 0.676 1.000 0.826 0.992 517 Zinc_finger_C2H2-type . . . ZNF518A 175 1 46 14 0.233333333333333 TRUE TRUE +ENSG00000095713.14 . BCM GRCh38.p13 chr10 97896939 97896939 + C C T Missense_Mutation SNP ENST00000370597.8 exon9 c.G1186A p.D396N exonic ENSG00000095713.14 . nonsynonymous SNV ENSG00000095713.14:ENST00000370597.8:exon9:c.G1186A:p.D396N 10q24.2 C3L-00607 0 0 0 0 0 0 0 0 rs750669625 11.20 T D D P D D M T D 0.607 T T D 0.213 . 0.494 0.379 T T T T D D 3.084 23.600 0.996 D D 0.303 3.792 0.206 3.215 1.000 0.497 0.590 0.547 0.613 . 5.170 5.170 7.094 1.026 0.599 1.000 0.022 0.007 248 . . . . CRTAC1 126 0 101 22 0.178861788617886 TRUE NA +ENSG00000132334.16 . BCM GRCh38.p13 chr10 128070831 128070831 + G G T Missense_Mutation SNP ENST00000254667.7 exon15 c.G1317T p.M439I exonic ENSG00000132334.16 . nonsynonymous SNV ENSG00000132334.16:ENST00000254667.7:exon15:c.G1317T:p.M439I 10q26.2 C3L-00607 . . . . . . . . . 7.20 T T P B D D L T N 0.542 T T T 0.289 0.319 0.421 0.947 D T T T D D 3.584 25.000 0.995 D D 0.416 4.446 0.481 4.989 1.000 0.707 0.654 0.547 0.714 . 4.510 4.510 8.138 1.172 0.672 1.000 1.000 0.999 974 PTP_type_protein_phosphatase . . . PTPRE 152 0 152 39 0.204188481675393 TRUE TRUE +ENSG00000148773.14 . BCM GRCh38.p13 chr10 128104403 128104403 + C C A Missense_Mutation SNP ENST00000368654.8 exon13 c.G7437T p.K2479N exonic ENSG00000148773.14 . nonsynonymous SNV ENSG00000148773.14:ENST00000368654.8:exon13:c.G7437T:p.K2479N 10q26.2 C3L-00607 . . . . . . . . . 1.20 D T P P N N L T N 0.133 T T T 0.065 0.521 0.177 0.279 T T T T T T 1.948 18.860 0.989 N N -0.809 0.642 -0.946 0.559 1.000 0.707 0.702 0.725 0.742 . 2.830 1.920 -0.074 0.865 -0.276 0.000 0.001 0.000 970 . . . . MKI67 172 1 142 57 0.28643216080402 TRUE TRUE +ENSG00000156599.11 . BCM GRCh38.p13 chr11 57698831 57698831 + T T A Missense_Mutation SNP ENST00000287169.8 exon11 c.T1395A p.N465K exonic ENSG00000156599.11 . nonsynonymous SNV ENSG00000156599.11:ENST00000287169.8:exon11:c.T1395A:p.N465K 11q12.1 C3L-00607 . . . . . . . . . 15.20 D D D D N D M D D 0.911 D D D 0.306 0.343 0.573 0.606 D T T T D D 1.920 18.640 0.995 D N -0.232 1.789 -0.426 1.325 0.551 0.707 0.702 0.702 0.714 . 5.090 -4.650 -1.457 1.138 0.665 0.003 1.000 0.993 328 . . . . ZDHHC5 269 0 216 51 0.191011235955056 TRUE TRUE +ENSG00000167994.13 . BCM GRCh38.p13 chr11 61904805 61904805 + T T G Missense_Mutation SNP ENST00000394836.7 exon6 c.A735C p.E245D exonic ENSG00000167994.13 . nonsynonymous SNV ENSG00000167994.13:ENST00000394836.7:exon6:c.A735C:p.E245D 11q12.3 C3L-00607 . . . . . . . . . 0.20 T T B B N N N T N 0.130 T T T 0.031 0.197 0.357 0.077 T T T T T T 0.089 1.992 0.708 N N -1.351 0.139 -1.333 0.188 1.000 0.840 0.590 0.737 0.700 . 5.100 -8.830 -1.210 0.197 0.665 0.003 0.998 0.989 706 . . . . RAB3IL1 176 1 123 40 0.245398773006135 TRUE TRUE +ENSG00000139133.7 . BCM GRCh38.p13 chr12 34026746 34026746 + T T C Missense_Mutation SNP ENST00000266483.7 exon3 c.T1253C p.F418S exonic ENSG00000139133.7 . nonsynonymous SNV ENSG00000139133.7:ENST00000266483.7:exon3:c.T1253C:p.F418S 12p11.1 C3L-00607 . . . . . . . . . 14.20 D D D D D D H T D 0.951 T T D 0.668 0.737 0.794 1.020 T T D D D T 3.845 26.100 0.998 D D 0.620 6.133 0.468 4.877 0.988 0.633 0.634 0.602 0.655 . 3.370 3.370 7.639 1.053 0.503 1.000 0.994 0.596 900 . . . . ALG10 181 0 73 27 0.27 NA TRUE +ENSG00000110911.16 . BCM GRCh38.p13 chr12 50995784 50995784 + T T A Nonsense_Mutation SNP ENST00000644495.1 exon10 c.A835T p.R279X exonic ENSG00000110911.16 . stopgain ENSG00000110911.16:ENST00000644495.1:exon10:c.A835T:p.R279X 12q13.12 C3L-00607 . . . . . . . . . 5.6 . . . . D A . . . 0.944 . . . . . . . . . D D . . 7.259 37 0.997 D N 0.575 5.674 0.404 4.390 0.998 0.707 0.725 0.725 0.714 . 5.650 4.440 2.177 1.134 0.661 0.995 0.998 0.982 218 . . . . SLC11A2 204 0 86 28 0.245614035087719 TRUE TRUE +ENSG00000139304.16 . BCM GRCh38.p13 chr12 80542249 80542249 + T T G Missense_Mutation SNP ENST00000644991.3 exon22 c.T3606G p.N1202K exonic ENSG00000139304.16 . nonsynonymous SNV ENSG00000139304.16:ENST00000644991.3:exon22:c.T3606G:p.N1202K 12q21.31 C3L-00607 . . . . . . . . . 3.13 . D . . . N . . . 0.584 T T T 0.254 0.567 0.048 . T T T T D T 1.844 18.060 0.985 D N -0.208 1.853 -0.154 1.901 0.682 0.487 0.574 0.547 0.564 . 5.590 3.560 0.483 0.022 -0.186 0.895 0.649 0.981 902 Fibronectin_type_III . . . PTPRQ 213 0 67 22 0.247191011235955 TRUE TRUE +ENSG00000151952.16 . BCM GRCh38.p13 chr12 129074659 129074659 + C C G Missense_Mutation SNP ENST00000422113.7 exon9 c.G2516C p.G839A exonic ENSG00000151952.16 . nonsynonymous SNV ENSG00000151952.16:ENST00000422113.7:exon9:c.G2516C:p.G839A 12q24.33 C3L-00607 . . . . . . . . . 1.20 T T P B N N M T N 0.144 T T T 0.018 0.306 0.093 0.278 T T T T T T 0.816 9.557 0.173 N N -0.669 0.866 -0.724 0.865 0.000 0.615 0.574 0.659 0.564 . 4.200 3.310 1.415 1.000 0.599 0.006 0.002 0.028 994 . . . . TMEM132D 296 0 261 65 0.199386503067485 TRUE TRUE +ENSG00000092108.21 . BCM GRCh38.p13 chr14 30622360 30622360 + - NA CAG In_Frame_Ins INS ENST00000458591.7 exon1 c.22_23insCAG p.A13_S14insA exonic ENSG00000092108.21 . nonframeshift insertion ENSG00000092108.21:ENST00000458591.7:exon1:c.22_23insCAG:p.A13_S14insA 14q12 C3L-00607 0.0044 0.0367 0.0011 0 0 0 0 0.0002 rs372043124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCFD1 NA NA NA NA NA NA NA +ENSG00000137831.15 . BCM GRCh38.p13 chr15 70668612 70668612 + T T G Missense_Mutation SNP ENST00000322954.11 exon16 c.A2072C p.K691T exonic ENSG00000137831.15 . nonsynonymous SNV ENSG00000137831.15:ENST00000322954.11:exon16:c.A2072C:p.K691T 15q23 C3L-00607 . . . . . . . . . 7.20 D T D P N N M T N 0.315 T T D 0.111 0.130 0.590 0.384 T T T T D D 1.631 16.570 0.997 D N -0.048 2.345 -0.155 1.898 1.000 0.706 0.624 0.710 0.711 . 5.600 3.310 0.197 0.139 0.665 0.219 0.034 0.014 953 . . . . UACA 252 0 102 49 0.324503311258278 TRUE TRUE +ENSG00000136379.12 . BCM GRCh38.p13 chr15 80696012 80696012 + C C T Missense_Mutation SNP ENST00000258884.5 exon1 c.C583T p.R195C exonic ENSG00000136379.12 . nonsynonymous SNV ENSG00000136379.12:ENST00000258884.5:exon1:c.C583T:p.R195C 15q25.1 C3L-00607 . . . . . . . . . 11.20 D T P B U D M T D 0.753 T T D 0.282 0.569 0.677 2.211 D T D D D D 3.312 24.200 0.996 D N 0.156 3.113 0.222 3.293 1.000 0.726 0.707 0.594 0.373 . 4.860 4.860 1.008 0.823 0.582 0.998 1.000 0.842 963 Serine_aminopeptidase,_S33 . . . ABHD17C 302 0 210 87 0.292929292929293 TRUE TRUE +ENSG00000167395.10 . BCM GRCh38.p13 chr16 31079283 31079283 + G G A Missense_Mutation SNP ENST00000300850.5 exon2 c.G2959A p.D987N exonic ENSG00000167395.10 . nonsynonymous SNV ENSG00000167395.10:ENST00000300850.5:exon2:c.G2959A:p.D987N 16p11.2 C3L-00607 . . . . . . . . . 1.19 T T B B . N L T N 0.091 T T T 0.092 0.231 0.363 0.185 T T T T T T 1.090 12.670 0.957 D N -0.587 1.011 -0.546 1.129 1.000 0.672 0.702 0.698 0.636 . 5.390 3.440 0.540 1.176 0.676 0.000 0.036 0.311 41 . . . . ZNF646 62 0 46 23 0.333333333333333 TRUE TRUE +ENSG00000140836.17 . BCM GRCh38.p13 chr16 72787990 72787990 + - NA G Frame_Shift_Ins INS ENST00000268489.10 exon10 c.10285dupC p.R3429Pfs*2 exonic ENSG00000140836.17 . frameshift insertion ENSG00000140836.17:ENST00000268489.10:exon10:c.10285dupC:p.R3429Pfs*2 16q22.2 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFHX3 NA NA NA NA NA NA NA +ENSG00000103154.9 . BCM GRCh38.p13 chr16 84001875 84001875 + C C A Missense_Mutation SNP ENST00000305202.8 exon12 c.C1091A p.T364K exonic ENSG00000103154.9 . nonsynonymous SNV ENSG00000103154.9:ENST00000305202.8:exon12:c.C1091A:p.T364K 16q23.3 C3L-00607 . . . . . . . . . 11.20 T T D D D D M T D 0.712 T T D 0.242 0.335 0.141 . T T D T D T 2.951 23.300 0.993 D D 0.513 5.134 0.467 4.871 1.000 0.626 0.610 0.805 0.542 . 5.000 5.000 2.915 1.026 0.544 0.989 0.946 0.474 946 Antibiotic_biosynthesis_monooxygenase_domain . . . NECAB2 209 0 182 52 0.222222222222222 TRUE TRUE +ENSG00000174327.7 . BCM GRCh38.p13 chr17 7038518 7038518 + T T C Missense_Mutation SNP ENST00000308027.7 exon3 c.T710C p.L237P exonic ENSG00000174327.7 . nonsynonymous SNV ENSG00000174327.7:ENST00000308027.7:exon3:c.T710C:p.L237P 17p13.1 C3L-00607 . . . . . . . . . 13.20 D D D P N D M T D 0.953 T T D 0.654 0.711 0.808 1.236 T D D D D T 3.807 25.900 0.999 D D 0.751 7.890 0.714 8.029 1.000 0.696 0.663 0.692 0.662 . 5.600 5.600 4.960 1.138 0.665 1.000 0.643 0.529 754 Major_facilitator_superfamily_domain . . . SLC16A13 379 0 359 117 0.245798319327731 TRUE TRUE +ENSG00000170004.17 . BCM GRCh38.p13 chr17 7895358 7895358 + G G A Missense_Mutation SNP ENST00000330494.12 exon10 c.G1523A p.R508Q exonic ENSG00000170004.17 . nonsynonymous SNV ENSG00000170004.17:ENST00000330494.12:exon10:c.G1523A:p.R508Q 17p13.1 C3L-00607 . . . . . . . . . 6.20 D D P B D D L T N 0.309 T T T 0.090 0.426 0.554 1.041 T T T T D D 3.208 23.900 0.998 N N 0.182 3.223 0.213 3.248 1.000 0.707 0.725 0.805 0.714 . 5.400 5.400 2.154 1.176 0.676 0.025 0.992 0.983 401 Chromo/chromo_shadow_domain . . . CHD3 180 0 159 41 0.205 TRUE TRUE +ENSG00000076382.17 . BCM GRCh38.p13 chr17 28592658 28592658 + C C T Missense_Mutation SNP ENST00000321765.10 exon3 c.G586A p.E196K exonic ENSG00000076382.17 . nonsynonymous SNV ENSG00000076382.17:ENST00000321765.10:exon3:c.G586A:p.E196K 17q11.2 C3L-00607 4.127e-05 0 0 0 0 0 0 0.0003 rs563369968 0.20 T T B B N N N T N 0.046 T T T 0.073 0.283 0.261 0.202 T T T T T T 0.575 7.270 0.656 N N -1.037 0.366 -1.047 0.433 0.986 0.707 0.698 0.702 0.714 . 5.700 -1.530 -0.143 0.104 0.599 0.001 0.005 0.010 232 . . . . SPAG5 190 0 169 48 0.221198156682028 TRUE NA +ENSG00000275066.5 . BCM GRCh38.p13 chr17 37536060 37536060 + A A T Missense_Mutation SNP ENST00000612223.5 exon19 c.T3585A p.S1195R exonic ENSG00000275066.5 . nonsynonymous SNV ENSG00000275066.5:ENST00000612223.5:exon19:c.T3585A:p.S1195R 17q12 C3L-00607 . . . . . . . . . 10.16 . D D D D D L . . 0.901 T T D 0.316 0.496 0.322 . T T D D D . 3.537 24.800 0.998 D N 0.304 3.799 0.226 3.313 0.000 0.707 0.702 0.725 0.714 . 5.650 0.992 0.349 0.236 0.751 0.991 1.000 0.999 48 . . . . SYNRG 216 0 162 48 0.228571428571429 TRUE TRUE +ENSG00000161526.15 . BCM GRCh38.p13 chr17 75706357 75706357 + A A G Missense_Mutation SNP ENST00000584667.6 exon11 c.A763G p.S255G exonic ENSG00000161526.15 . nonsynonymous SNV ENSG00000161526.15:ENST00000584667.6:exon11:c.A763G:p.S255G 17q25.1 C3L-00607 . . . . . . . . . 12.17 . D D D D D L . . 0.533 T T T 0.440 0.310 0.670 1.592 T D D D D D 4.668 32 0.998 D D 0.825 9.290 0.809 10.408 1.000 0.722 0.702 0.725 0.735 . 5.580 5.580 8.947 1.312 0.756 1.000 1.000 0.999 976 . . . . SAP30BP 155 0 133 45 0.252808988764045 TRUE TRUE +ENSG00000171105.14 . BCM GRCh38.p13 chr19 7267424 7267424 + C C A Missense_Mutation SNP ENST00000302850.10 exon2 c.G573T p.K191N exonic ENSG00000171105.14 . nonsynonymous SNV ENSG00000171105.14:ENST00000302850.10:exon2:c.G573T:p.K191N 19p13.2 C3L-00607 . . . . . . . . . 7.20 T T B B D D L D N 0.406 T T D 0.245 0.432 0.927 1.073 T D T T D T 1.062 12.380 0.990 D N -0.023 2.432 0.078 2.646 0.993 0.707 0.725 0.725 0.636 . 5.220 4.190 -0.027 0.112 -0.171 0.390 0.920 0.654 970 Furin-like_cysteine-rich_domain . . ID=COSV100251213;OCCURENCE=1(lung) INSR 231 1 200 55 0.215686274509804 TRUE TRUE +ENSG00000181666.18 . BCM GRCh38.p13 chr19 37363478 37363498 + GTTTCGGCAGAAGCCTAACCT GTTTCGGCAGAAGCCTAACCT - In_Frame_Del DEL ENST00000324411.8 exon6 c.1683_1703del p.Q564_R570del exonic ENSG00000181666.18 . nonframeshift deletion ENSG00000181666.18:ENST00000324411.8:exon6:c.1683_1703del:p.Q564_R570del 19q13.12 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF875 117 0 98 14 0.125 TRUE TRUE +ENSG00000105409.19 . BCM GRCh38.p13 chr19 41967279 41967279 + G G A Missense_Mutation SNP ENST00000644613.1 exon22 c.C2983T p.R995C exonic ENSG00000105409.19;ENSG00000285505.1 . nonsynonymous SNV ENSG00000285505.1:ENST00000644613.1:exon22:c.C2983T:p.R995C,ENSG00000105409.19:ENST00000648268.1:exon22:c.C2983T:p.R995C 19q13.2 C3L-00607 . . . . . . . . . 20.20 D D D D D D H D D 0.918 D D D 0.893 0.897 0.980 3.038 D D D D D D 4.560 32 0.999 D D 0.779 8.382 0.588 6.073 1.000 0.626 0.660 0.805 0.621 . 3.320 2.160 3.834 1.164 0.662 1.000 0.996 0.999 846 Cation-transporting_P-type_ATPase,_C-terminal . . ID=COSV57485526;OCCURENCE=1(breast),2(upper_aerodigestive_tract) ATP1A3 203 0 184 47 0.203463203463203 TRUE TRUE +ENSG00000167619.13 . BCM GRCh38.p13 chr19 42316685 42316685 + T T C Missense_Mutation SNP ENST00000301204.8 exon10 c.T751C p.F251L exonic ENSG00000167619.13 . nonsynonymous SNV ENSG00000167619.13:ENST00000301204.8:exon10:c.T751C:p.F251L 19q13.2 C3L-00607 8.246e-06 0 0 0 0 1.5e-05 0 0 rs767338327 8.20 D T P P D D L T N 0.688 T T D 0.221 0.591 0.193 0.903 T T T T D D 3.372 24.300 0.998 D D 0.210 3.349 0.236 3.367 1.000 0.701 0.609 0.717 0.563 . 3.760 3.760 6.507 1.051 0.661 1.000 1.000 1.000 555 Intimal_thickness_related_receptor,_IRP . . . TMEM145 202 0 144 49 0.253886010362694 TRUE NA +ENSG00000101079.21 . BCM GRCh38.p13 chr20 36653656 36653656 + G G T Nonsense_Mutation SNP ENST00000349004.6 exon16 c.C992A p.S331X exonic ENSG00000101079.21 . stopgain ENSG00000101079.21:ENST00000349004.6:exon16:c.C992A:p.S331X 20q11.23 C3L-00607 . . . . . . . . . 5.6 . . . . D D . . . 0.354 . . . . . . . . . D D . . 7.574 38 0.994 D N 0.984 13.442 0.859 12.116 1.000 0.706 0.710 0.725 0.714 . 5.650 5.650 9.317 1.167 0.668 1.000 0.995 0.956 357 . . . . NDRG3 155 0 118 79 0.401015228426396 TRUE TRUE +ENSG00000124126.14 . BCM GRCh38.p13 chr20 48636638 48636638 + A A T Missense_Mutation SNP ENST00000371941.4 exon32 c.T3992A p.L1331Q exonic ENSG00000124126.14 . nonsynonymous SNV ENSG00000124126.14:ENST00000371941.4:exon32:c.T3992A:p.L1331Q 20q13.13 C3L-00607 . . . . . . . . . 15.20 D D D D U D M T D 0.880 T T D 0.470 0.527 0.814 1.097 T D D D D D 3.970 26.800 0.996 D D 0.657 6.562 0.599 6.210 1.000 0.744 0.702 0.630 0.714 . 4.570 4.570 5.618 1.308 0.748 1.000 0.971 0.711 813 . . . . PREX1 110 0 113 29 0.204225352112676 TRUE TRUE +ENSG00000124126.14 . BCM GRCh38.p13 chr20 48649541 48649541 + T T G Missense_Mutation SNP ENST00000371941.4 exon25 c.A3064C p.I1022L exonic ENSG00000124126.14 . nonsynonymous SNV ENSG00000124126.14:ENST00000371941.4:exon25:c.A3064C:p.I1022L 20q13.13 C3L-00607 . . . . . . . . . 8.20 D D B B U D M T N 0.429 T T T 0.118 0.334 0.448 0.369 T T T T D D 2.763 22.900 0.987 D D -0.237 1.775 -0.145 1.925 0.640 0.706 0.702 0.710 0.714 . 4.740 3.640 3.466 0.194 -0.139 1.000 0.998 0.996 829 . . . . PREX1 136 1 149 45 0.231958762886598 TRUE TRUE +ENSG00000100296.13 . BCM GRCh38.p13 chr22 29531911 29531911 + T T C Missense_Mutation SNP ENST00000490103.5 exon8 c.A767G p.K256R exonic ENSG00000100296.13 . nonsynonymous SNV ENSG00000100296.13:ENST00000490103.5:exon8:c.A767G:p.K256R 22q12.2 C3L-00607 . . . . . . . . . 7.20 T T P B D D M T N 0.610 T T T 0.136 0.570 0.317 0.353 T T T T D D 2.932 23.300 0.997 D D 0.440 4.603 0.525 5.394 0.999 0.707 0.725 0.725 0.714 . 6.040 6.040 6.060 1.138 0.665 1.000 1.000 0.997 692 . . . . THOC5 102 0 112 27 0.194244604316547 TRUE TRUE +ENSG00000268629.8 . BCM GRCh38.p13 chrX 105219322 105219322 + G G T Missense_Mutation SNP ENST00000600991.6 exon3 c.C872A p.P291H exonic ENSG00000268629.8 . nonsynonymous SNV ENSG00000268629.8:ENST00000600991.6:exon3:c.C872A:p.P291H Xq22.3 C3L-00607 . . . . . . . . . 1.16 . D B B N N L . . 0.129 T T T 0.011 0.220 0.014 . T T T T T T 0.405 5.480 0.958 N . . . . . 0.001 . . . . . 3.450 -1.870 -0.340 0.091 -0.250 0.000 0.009 0.009 17 . . . . TEX13A 105 0 49 60 0.55045871559633 TRUE TRUE +ENSG00000143627.19 . BCM GRCh38.p13 chr1 155295147 155295147 + G G A Silent SNP ENST00000342741.6 exon5 c.C663T p.D221D exonic ENSG00000143627.19 . synonymous SNV ENSG00000143627.19:ENST00000342741.6:exon5:c.C663T:p.D221D 1q22 C3L-00607 8.306e-06 0 0 0 0 1.515e-05 0 0 rs761145518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61360475;OCCURENCE=2(large_intestine) PKLR 437 0 377 100 0.209643605870021 TRUE TRUE +ENSG00000077522.13 . BCM GRCh38.p13 chr1 236751517 236751517 + G G A Silent SNP ENST00000366578.6 exon15 c.G1704A p.A568A exonic ENSG00000077522.13 . synonymous SNV ENSG00000077522.13:ENST00000366578.6:exon15:c.G1704A:p.A568A 1q43 C3L-00607 0.0001 0 0 0 0 0.0002 0 6.058e-05 rs369560444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACTN2 275 0 261 75 0.223214285714286 TRUE NA +ENSG00000162852.14 . BCM GRCh38.p13 chr1 246634495 246634495 + A A G Silent SNP ENST00000366513.9 exon6 c.A726G p.Q242Q exonic ENSG00000162852.14 . synonymous SNV ENSG00000162852.14:ENST00000366513.9:exon6:c.A726G:p.Q242Q 1q44 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNST 75 0 25 7 0.21875 TRUE TRUE +ENSG00000038427.16 . BCM GRCh38.p13 chr5 83522164 83522164 + T T C Silent SNP ENST00000265077.8 exon7 c.T3858C p.P1286P exonic ENSG00000038427.16 . synonymous SNV ENSG00000038427.16:ENST00000265077.8:exon7:c.T3858C:p.P1286P 5q14.3 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VCAN 123 0 118 23 0.163120567375887 TRUE TRUE +ENSG00000198719.9 . BCM GRCh38.p13 chr6 170283956 170283956 + G G A Silent SNP ENST00000366756.4 exon9 c.C1323T p.D441D exonic ENSG00000198719.9 . synonymous SNV ENSG00000198719.9:ENST00000366756.4:exon9:c.C1323T:p.D441D 6q27 C3L-00607 0.0001 0.0007 0 0 0 7.004e-05 0 9.86e-05 rs12214318 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64537568;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(pancreas) DLL1 275 0 400 114 0.221789883268482 TRUE TRUE +ENSG00000186472.20 . BCM GRCh38.p13 chr7 83134454 83134454 + A A G Silent SNP ENST00000333891.14 exon3 c.T3096C p.D1032D exonic ENSG00000186472.20 . synonymous SNV ENSG00000186472.20:ENST00000333891.14:exon3:c.T3096C:p.D1032D 7q21.11 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCLO 194 0 124 39 0.239263803680982 TRUE TRUE +ENSG00000091128.13 . BCM GRCh38.p13 chr7 108049413 108049413 + G G A Silent SNP ENST00000388781.8 exon27 c.C4035T p.I1345I exonic ENSG00000091128.13 . synonymous SNV ENSG00000091128.13:ENST00000388781.8:exon27:c.C4035T:p.I1345I 7q31.1 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LAMB4 150 0 55 19 0.256756756756757 TRUE TRUE +ENSG00000204983.14 . BCM GRCh38.p13 chr7 142752516 142752516 + C C A Silent SNP ENST00000311737.12 exon4 c.C540A p.T180T exonic ENSG00000204983.14 . synonymous SNV ENSG00000204983.14:ENST00000311737.12:exon4:c.C540A:p.T180T 7q34 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS1 648 1 582 103 0.15036496350365 NA TRUE +ENSG00000166321.14 . BCM GRCh38.p13 chr10 73120123 73120123 + A A G Silent SNP ENST00000357321.9 exon3 c.A189G p.A63A exonic ENSG00000166321.14 . synonymous SNV ENSG00000166321.14:ENST00000357321.9:exon3:c.A189G:p.A63A 10q22.2 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUDT13 160 0 143 41 0.222826086956522 TRUE TRUE +ENSG00000111300.10 . BCM GRCh38.p13 chr12 112078207 112078207 + G G T Silent SNP ENST00000261745.9 exon7 c.C645A p.V215V exonic ENSG00000111300.10 . synonymous SNV ENSG00000111300.10:ENST00000261745.9:exon7:c.C645A:p.V215V 12q24.13 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAA25 143 0 52 12 0.1875 TRUE TRUE +ENSG00000221977.2 . BCM GRCh38.p13 chr14 21665370 21665370 + C C T Silent SNP ENST00000641524.1 exon4 c.C288T p.N96N exonic ENSG00000221977.2 . synonymous SNV ENSG00000221977.2:ENST00000641524.1:exon4:c.C288T:p.N96N 14q11.2 C3L-00607 . . . . . . . . rs376296410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR4E2 120 0 42 32 0.432432432432432 TRUE NA +ENSG00000103375.11 . BCM GRCh38.p13 chr16 25221532 25221532 + G G A Silent SNP ENST00000219660.6 exon3 c.G336A p.P112P exonic ENSG00000103375.11 . synonymous SNV ENSG00000103375.11:ENST00000219660.6:exon3:c.G336A:p.P112P 16p12.1 C3L-00607 3.297e-05 0 0 0.0001 0 4.5e-05 0 0 rs199899879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54846031;OCCURENCE=1(bone),1(stomach) AQP8 151 1 140 44 0.239130434782609 TRUE TRUE +ENSG00000103496.15 . BCM GRCh38.p13 chr16 31034499 31034499 + C C T Silent SNP ENST00000313843.8 exon4 c.C270T p.I90I exonic ENSG00000103496.15 . synonymous SNV ENSG00000103496.15:ENST00000313843.8:exon4:c.C270T:p.I90I 16p11.2 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STX4 34 0 26 4 0.133333333333333 TRUE TRUE +ENSG00000141564.15 . BCM GRCh38.p13 chr17 80923580 80923580 + G G A Silent SNP ENST00000306801.8 exon23 c.G2715A p.R905R exonic ENSG00000141564.15 . synonymous SNV ENSG00000141564.15:ENST00000306801.8:exon23:c.G2715A:p.R905R 17q25.3 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPTOR 227 0 198 61 0.235521235521236 TRUE TRUE +ENSG00000198466.12 . BCM GRCh38.p13 chr19 57859036 57859036 + A A G Silent SNP ENST00000339656.8 exon3 c.A624G p.G208G exonic ENSG00000198466.12 . synonymous SNV ENSG00000198466.12:ENST00000339656.8:exon3:c.A624G:p.G208G 19q13.43 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF587 430 0 354 59 0.142857142857143 NA TRUE +ENSG00000149635.3 . BCM GRCh38.p13 chr20 46546041 46546041 + G G A Silent SNP ENST00000279028.3 exon2 c.C333T p.P111P exonic ENSG00000149635.3 . synonymous SNV ENSG00000149635.3:ENST00000279028.3:exon2:c.C333T:p.P111P 20q13.12 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OCSTAMP 270 0 238 56 0.19047619047619 TRUE TRUE +ENSG00000130702.15 . BCM GRCh38.p13 chr20 62328294 62328294 + G G T Silent SNP ENST00000252999.7 exon35 c.C4599A p.P1533P exonic ENSG00000130702.15 . synonymous SNV ENSG00000130702.15:ENST00000252999.7:exon35:c.C4599A:p.P1533P 20q13.33 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99437385;OCCURENCE=1(skin) LAMA5 66 0 46 25 0.352112676056338 TRUE TRUE +ENSG00000157330.10 . BCM GRCh38.p13 chr1 12759546 12759546 + G G A Intron SNP NA NA NA NA intronic ENSG00000157330.10 . . . 1p36.21 C3L-00607 6.796e-05 0 0 0.0003 0 4.171e-05 0 0.0001 rs111503051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1orf158 228 0 190 28 0.128440366972477 TRUE NA +ENSG00000167515.10 . BCM GRCh38.p13 chr16 88860894 88860894 + G G A Intron SNP NA NA NA NA intronic ENSG00000167515.10 . . . 16q24.3 C3L-00607 . . . . . . . . . 1.11 T T . . . N . D N 0.115 . . T . . 0.289 . . . T T . T 0.166 2.748 0.501 N N . . . . 0.999 0.707 0.725 0.609 0.492 . 3.300 -6.590 -1.367 -0.494 -0.960 0.000 0.001 0.001 884 . . . . TRAPPC2L 175 0 177 44 0.199095022624434 TRUE TRUE +ENSG00000182463.16 . BCM GRCh38.p13 chr20 53185642 53185645 + AAAG AAAG - Intron DEL NA NA NA NA intronic ENSG00000182463.16 . . . 20q13.2 C3L-00607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSHZ2 161 0 117 39 0.25 TRUE NA +ENSG00000131584.19 . BCM GRCh38.p13 chr1 1294452 1294452 + C C T Missense_Mutation SNP ENST00000354700.10 exon21 c.G2089A p.A697T exonic ENSG00000131584.19 . nonsynonymous SNV ENSG00000131584.19:ENST00000354700.10:exon21:c.G2089A:p.A697T 1p36.33 C3L-00610 . . . . . . . . . 5.20 T T P P N D N T N 0.483 T T T 0.107 0.468 0.340 0.388 T T T T D D 3.123 23.700 0.988 D D -0.176 1.945 -0.056 2.178 0.356 0.742 0.710 0.775 0.700 . 4.320 3.320 4.715 1.004 0.524 1.000 0.738 0.783 779 Ankyrin_repeat-containing_domain . . . ACAP3 193 0 119 49 0.291666666666667 TRUE TRUE +ENSG00000117643.14 . BCM GRCh38.p13 chr1 25618208 25618208 + G G - Frame_Shift_Del DEL ENST00000374332.8 exon1 c.411delG p.G138Afs*44 exonic ENSG00000117643.14 . frameshift deletion ENSG00000117643.14:ENST00000374332.8:exon1:c.411delG:p.G138Afs*44 1p36.11 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAN1C1 226 0 136 17 0.111111111111111 TRUE TRUE +ENSG00000143811.19 . BCM GRCh38.p13 chr1 225921304 225921304 + G G A Missense_Mutation SNP ENST00000432920.2 exon5 c.C479T p.P160L exonic ENSG00000143811.19;ENSG00000255835.1 . nonsynonymous SNV ENSG00000255835.1:ENST00000432920.2:exon5:c.C479T:p.P160L,ENSG00000143811.19:ENST00000343818.11:exon6:c.C701T:p.P234L 1q42.12 C3L-00610 . . . . . . . . . 20.20 D D D D D D H D D 0.921 D D D 0.788 0.826 0.939 1.177 D D D D D D 4.415 31 0.997 D D 0.702 7.142 0.609 6.340 1.000 0.722 0.699 0.702 0.735 . 5.140 4.210 9.920 1.176 0.676 1.000 0.992 0.993 761 Pyrroline-5-carboxylate_reductase,_dimerisation_domain . . . PYCR2 156 0 89 33 0.270491803278689 TRUE TRUE +ENSG00000204186.10 . BCM GRCh38.p13 chr2 206308789 206308789 + G G T Missense_Mutation SNP ENST00000374423.9 exon5 c.G4261T p.V1421L exonic ENSG00000204186.10 . nonsynonymous SNV ENSG00000204186.10:ENST00000374423.9:exon5:c.G4261T:p.V1421L 2q33.3 C3L-00610 . . . . . . . . . 7.18 D D D D . N M T N 0.339 T T D 0.173 0.268 0.411 0.072 T T T T D . 2.181 20.700 0.993 N N -0.070 2.272 -0.299 1.566 0.000 0.732 0.744 0.602 0.580 . 3.760 1.950 1.050 0.189 0.676 0.035 0.119 0.800 902 . . . . ZDBF2 138 0 73 16 0.179775280898876 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142109 10142109 + T T C Missense_Mutation SNP ENST00000256474.3 exon1 c.T262C p.W88R exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T262C:p.W88R 3p25.3 C3L-00610 . . . . . . . . . 18.20 D D D D D D M D D 0.990 D D D 0.851 0.924 1.000 1.452 D D D D D T 4.367 31 0.991 D N 0.570 5.635 0.487 5.039 1.000 0.442 0.522 0.522 0.373 . 5.160 3.980 4.903 0.971 0.576 1.000 0.667 0.616 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56548816;OCCURENCE=7(kidney) VHL 392 0 130 92 0.414414414414414 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52603562 52603563 + TC TC - Frame_Shift_Del DEL ENST00000296302.11 exon17 c.2737_2738del p.E913Nfs*5 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon17:c.2737_2738del:p.E913Nfs*5 3p21.1 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 226 0 68 34 0.333333333333333 TRUE TRUE +ENSG00000138246.17 . BCM GRCh38.p13 chr3 132499161 132499161 + C C G Missense_Mutation SNP ENST00000260818.11 exon37 c.C4192G p.L1398V exonic ENSG00000138246.17 . nonsynonymous SNV ENSG00000138246.17:ENST00000260818.11:exon37:c.C4192G:p.L1398V 3q22.1 C3L-00610 . . . . . . . . . 16.20 D D D D D D M T D 0.882 T T D 0.538 0.613 0.511 0.882 D T D D D D 3.132 23.700 0.998 D D 0.477 4.864 0.399 4.351 0.999 0.707 0.725 0.609 0.714 . 5.320 3.500 3.894 0.129 -0.182 1.000 1.000 0.956 819 . . . . DNAJC13 85 0 71 4 0.0533333333333333 TRUE TRUE +ENSG00000109132.7 . BCM GRCh38.p13 chr4 41745919 41745919 + C C T Missense_Mutation SNP ENST00000226382.4 exon3 c.G833A p.G278D exonic ENSG00000109132.7 . nonsynonymous SNV ENSG00000109132.7:ENST00000226382.4:exon3:c.G833A:p.G278D 4p13 C3L-00610 . . . . . . . . . 11.20 D D P B D D L D N 0.494 T T D 0.486 0.197 0.765 1.441 D T D T D T 2.848 23.100 0.991 D D -0.244 1.757 -0.143 1.930 1.000 0.598 0.590 0.608 0.639 . 3.760 2.890 3.486 0.947 0.463 1.000 0.994 0.992 630 . . . . PHOX2B 149 0 113 37 0.246666666666667 TRUE TRUE +ENSG00000163625.15 . BCM GRCh38.p13 chr4 84775105 84775105 + A A C Missense_Mutation SNP ENST00000295888.8 exon28 c.T4552G p.S1518A exonic ENSG00000163625.15 . nonsynonymous SNV ENSG00000163625.15:ENST00000295888.8:exon28:c.T4552G:p.S1518A 4q21.23 C3L-00610 . . . . . . . . . 8.20 T T D P D D L T N 0.551 T T T 0.151 0.475 0.129 0.475 D T T T D D 3.819 25.900 0.997 D D 0.375 4.194 0.439 4.646 1.000 0.732 0.574 0.651 0.728 . 5.240 5.240 8.695 1.312 0.756 1.000 0.999 1.000 917 Domain_of_unknown_function_DUF4704 . . . WDFY3 144 0 73 28 0.277227722772277 TRUE TRUE +ENSG00000137601.17 . BCM GRCh38.p13 chr4 169602590 169602590 + G G A Missense_Mutation SNP ENST00000439128.6 exon2 c.C41T p.S14L exonic ENSG00000137601.17 . nonsynonymous SNV ENSG00000137601.17:ENST00000439128.6:exon2:c.C41T:p.S14L 4q33 C3L-00610 . . . . . . . . . 15.20 D D D D D D M T D 0.920 T T D 0.684 0.750 0.676 0.339 T T D D D D 4.206 28.700 0.999 D D 1.013 14.324 0.979 17.635 1.000 0.638 0.634 0.653 0.655 . 5.890 5.890 9.914 1.085 0.507 1.000 1.000 0.993 927 Protein_kinase_domain;Protein_kinase,_ATP_binding_site . . . NEK1 102 0 74 24 0.244897959183673 TRUE TRUE +ENSG00000112984.12 . BCM GRCh38.p13 chr5 138186315 138186315 + G G C Missense_Mutation SNP ENST00000394894.8 exon18 c.G2239C p.E747Q exonic ENSG00000112984.12 . nonsynonymous SNV ENSG00000112984.12:ENST00000394894.8:exon18:c.G2239C:p.E747Q 5q31.2 C3L-00610 . . . . . . . . . 11.20 D D D D N D L T N 0.547 T T D 0.227 0.193 0.841 0.698 T T D T D D 3.904 26.400 0.998 D D 0.702 7.145 0.715 8.046 1.000 0.719 0.000 0.702 0.734 . 5.710 5.710 6.937 1.089 0.676 1.000 0.873 0.597 172 . . . . KIF20A 68 0 50 40 0.444444444444444 TRUE TRUE +ENSG00000112208.11 . BCM GRCh38.p13 chr6 57184065 57184065 + A A C Missense_Mutation SNP ENST00000370693.5 exon3 c.A511C p.K171Q exonic ENSG00000112208.11 . nonsynonymous SNV ENSG00000112208.11:ENST00000370693.5:exon3:c.A511C:p.K171Q 6p12.1 C3L-00610 8.306e-06 9.775e-05 0 0 0 0 0 0 rs116163209 18.20 D D D D D D M D D 0.726 D D D 0.706 . 0.968 1.080 T D D D D T 3.599 25.000 0.996 D D 0.919 11.564 0.905 13.952 1.000 0.707 0.725 0.725 0.634 . 6.060 6.060 9.325 1.312 0.756 1.000 1.000 0.998 716 BAG_domain . . . BAG2 77 0 50 15 0.230769230769231 TRUE NA +ENSG00000106608.16 . BCM GRCh38.p13 chr7 43876886 43876886 + G G C Missense_Mutation SNP ENST00000453200.5 exon6 c.C2577G p.F859L exonic ENSG00000106608.16 . nonsynonymous SNV ENSG00000106608.16:ENST00000453200.5:exon6:c.C2577G:p.F859L 7p13 C3L-00610 . . . . . . . . . 1.20 T T B B N N L T N 0.039 T T T 0.069 0.250 0.085 0.574 T T T T T T 2.012 19.350 0.965 D N -0.528 1.121 -0.416 1.343 0.995 0.732 0.702 0.744 0.636 . 3.940 2.120 0.825 1.176 0.618 1.000 0.385 0.950 769 Very_large_inducible_GTPASE_(VLIG)-type_guanine_nucleotide-binding_(G)_domain . . . URGCP 183 0 120 62 0.340659340659341 TRUE TRUE +ENSG00000106070.20 . BCM GRCh38.p13 chr7 50616312 50616312 + T T A Missense_Mutation SNP ENST00000401949.6 exon11 c.A882T p.Q294H exonic ENSG00000106070.20 . nonsynonymous SNV ENSG00000106070.20:ENST00000401949.6:exon11:c.A882T:p.Q294H 7p12.1 C3L-00610 . . . . . . . . . 10.20 T T P B D D M T N 0.499 T T D 0.488 0.623 0.872 0.983 T D D D D D 1.417 15.200 0.995 D N -0.177 1.943 -0.114 2.009 0.990 0.706 0.563 0.710 0.714 . 5.510 1.840 0.669 -0.152 0.665 1.000 0.994 0.996 757 Pleckstrin_homology_domain;APBB1IP,_PH_domain . . . GRB10 261 0 191 56 0.226720647773279 TRUE TRUE +ENSG00000170775.3 . BCM GRCh38.p13 chr7 124764888 124764888 + A A G Missense_Mutation SNP ENST00000303921.3 exon1 c.T89C p.V30A exonic ENSG00000170775.3 . nonsynonymous SNV ENSG00000170775.3:ENST00000303921.3:exon1:c.T89C:p.V30A 7q31.33 C3L-00610 . . . . . . . . . 0.20 T T B B N N N T N 0.032 T T T 0.033 0.218 0.082 0.551 T T T T T T 0.461 6.087 0.550 N N -1.335 0.147 -1.260 0.237 1.000 0.652 0.596 0.641 0.604 . 4.770 2.760 0.601 -0.097 -0.137 0.000 0.001 0.019 679 . . . . GPR37 86 0 76 6 0.0731707317073171 TRUE TRUE +ENSG00000285791.1 . BCM GRCh38.p13 chr8 66453730 66453730 + A A G Missense_Mutation SNP ENST00000648156.1 exon8 c.A764G p.K255R exonic ENSG00000285791.1 . nonsynonymous SNV ENSG00000285791.1:ENST00000648156.1:exon8:c.A764G:p.K255R 8q13.1 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC009879.3 162 0 115 27 0.190140845070423 TRUE NA +ENSG00000165244.7 . BCM GRCh38.p13 chr9 96388426 96388426 + - NA CTGGGG In_Frame_Ins INS ENST00000375256.5 exon5 c.863_864insCCCCAG p.T288_L289insPS exonic ENSG00000165244.7 . nonframeshift insertion ENSG00000165244.7:ENST00000375256.5:exon5:c.863_864insCCCCAG:p.T288_L289insPS 9q22.32 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF367 NA NA NA NA NA NA NA +ENSG00000173848.19 . BCM GRCh38.p13 chr10 5454425 5454425 + T T C Missense_Mutation SNP ENST00000355029.9 exon9 c.T929C p.I310T exonic ENSG00000173848.19 . nonsynonymous SNV ENSG00000173848.19:ENST00000355029.9:exon9:c.T929C:p.I310T 10p15.1 C3L-00610 8.293e-06 0 8.685e-05 0 0 0 0 0 rs753890242 13.20 D D P P D D L T D 0.856 T T D 0.365 0.475 0.824 1.057 D T D D D D 3.972 26.800 0.999 D D 0.580 5.729 0.655 6.991 1.000 0.707 0.725 0.725 0.714 . 6.070 6.070 7.927 1.138 0.665 1.000 0.996 0.979 811 Dbl_homology_(DH)_domain;Guanine-nucleotide_dissociation_stimulator,_CDC24,_conserved_site . . . NET1 275 0 199 65 0.246212121212121 TRUE NA +ENSG00000138316.11 . BCM GRCh38.p13 chr10 70674925 70674925 + A A G Missense_Mutation SNP ENST00000373207.2 exon2 c.A452G p.E151G exonic ENSG00000138316.11 . nonsynonymous SNV ENSG00000138316.11:ENST00000373207.2:exon2:c.A452G:p.E151G 10q22.1 C3L-00610 0.0012 0.0028 8.886e-05 0.0004 0.0038 0.0013 0.0013 6.098e-05 rs749142773 2.20 T T B B N D N T N 0.198 T T T 0.080 . 0.460 0.209 T T T T T T 2.629 22.700 0.996 D N -0.300 1.614 -0.098 2.053 1.000 0.598 0.563 0.576 0.639 . 4.990 3.870 3.879 1.312 0.691 1.000 1.000 0.986 306 Peptidase_M12B,_propeptide . . . ADAMTS14 272 0 153 65 0.298165137614679 TRUE NA +ENSG00000198728.11 . BCM GRCh38.p13 chr10 102109138 102109138 + C C T Missense_Mutation SNP ENST00000673968.1 exon10 c.G896A p.R299Q exonic ENSG00000198728.11 . nonsynonymous SNV ENSG00000198728.11:ENST00000673968.1:exon10:c.G896A:p.R299Q 10q24.32 C3L-00610 . . . . . . . . rs990101456 16.20 D D D D D D M T D 0.623 T T D 0.422 0.561 0.593 2.077 D D D T D D 4.209 28.700 1.000 D D 0.784 8.474 0.742 8.624 1.000 0.719 0.723 0.702 0.714 . 5.950 5.040 7.817 1.026 0.549 1.000 1.000 0.997 670 . . . ID=COSV63289656;OCCURENCE=1(large_intestine) LDB1 324 0 214 47 0.18007662835249 TRUE TRUE +ENSG00000197142.10 . BCM GRCh38.p13 chr10 112422421 112422421 + G G C Missense_Mutation SNP ENST00000393081.5 exon17 c.G1573C p.D525H exonic ENSG00000197142.10 . nonsynonymous SNV ENSG00000197142.10:ENST00000393081.5:exon17:c.G1573C:p.D525H 10q25.2 C3L-00610 . . . . . . . . . 18.20 D D D D D D H D D 0.974 D D D 0.928 0.969 0.991 0.734 T T D D D D 3.915 26.400 0.996 D D 1.167 21.150 1.048 22.114 1.000 0.707 0.725 0.547 0.616 . 5.710 5.710 8.152 0.218 -0.115 1.000 0.997 0.982 877 AMP-dependent_synthetase/ligase . . . ACSL5 122 0 87 31 0.26271186440678 TRUE TRUE +ENSG00000139218.18 . BCM GRCh38.p13 chr12 45927308 45927308 + G G T Missense_Mutation SNP ENST00000369367.8 exon11 c.C2393A p.S798Y exonic ENSG00000139218.18 . nonsynonymous SNV ENSG00000139218.18:ENST00000369367.8:exon11:c.C2393A:p.S798Y 12q12 C3L-00610 . . . . . . . . . 14.20 D D D D D D M T D 0.524 T T D 0.263 0.282 0.200 0.307 T T D T D D 3.797 25.800 0.994 D D 0.811 8.996 0.817 10.659 1.000 0.732 0.725 0.744 0.735 . 5.840 5.840 5.502 1.176 0.676 1.000 1.000 0.998 825 . . . . SCAF11 199 0 119 43 0.265432098765432 TRUE TRUE +ENSG00000179715.13 . BCM GRCh38.p13 chr12 47235305 47235305 + A A T Missense_Mutation SNP ENST00000546455.6 exon4 c.A242T p.E81V exonic ENSG00000179715.13 . nonsynonymous SNV ENSG00000179715.13:ENST00000546455.6:exon4:c.A242T:p.E81V 12q13.11 C3L-00610 . . . . . . . . . 9.20 D D P P D D L T D 0.325 T T T 0.232 0.480 0.331 1.059 T T T T D D 3.932 26.500 0.988 D D 0.305 3.805 0.274 3.571 1.000 0.706 0.670 0.710 0.655 . 3.790 3.790 7.605 1.312 0.756 1.000 0.258 0.604 774 . . . . PCED1B 166 0 120 9 0.0697674418604651 TRUE TRUE +ENSG00000111011.18 . BCM GRCh38.p13 chr12 122519028 122519028 + C C T Missense_Mutation SNP ENST00000331738.12 exon4 c.G209A p.G70E exonic ENSG00000111011.18 . nonsynonymous SNV ENSG00000111011.18:ENST00000331738.12:exon4:c.G209A:p.G70E 12q24.31 C3L-00610 . . . . . . . . . 6.20 D T B B D N N T N 0.258 T T T 0.090 0.291 0.043 0.910 D T T T D T 2.684 22.800 0.890 D D -0.585 1.015 -0.372 1.423 1.000 0.646 0.696 0.702 0.742 . 5.570 3.690 3.297 -0.183 -0.107 1.000 0.998 0.996 673 . . . . RSRC2 114 0 57 15 0.208333333333333 TRUE TRUE +ENSG00000211821.2 . BCM GRCh38.p13 chr14 22422867 22422867 + A A G Missense_Mutation SNP ENST00000390469.2 exon2 c.A170G p.Y57C exonic ENSG00000211821.2 . nonsynonymous SNV ENSG00000211821.2:ENST00000390469.2:exon2:c.A170G:p.Y57C 14q11.2 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRDV2 186 1 174 55 0.240174672489083 TRUE NA +ENSG00000138615.6 . BCM GRCh38.p13 chr15 65196890 65196890 + G G C Nonsense_Mutation SNP ENST00000261883.6 exon9 c.C3396G p.Y1132X exonic ENSG00000138615.6 . stopgain ENSG00000138615.6:ENST00000261883.6:exon9:c.C3396G:p.Y1132X 15q22.31 C3L-00610 . . . . . . . . . 4.6 . . . . N D . . . 0.647 . . . . . . . . . D D . . 7.100 37 0.995 D N 0.585 5.778 0.370 4.152 1.000 0.556 0.611 0.685 0.584 . 5.440 1.090 0.567 0.223 -0.113 0.999 0.997 0.916 636 . . . . CILP 87 0 41 15 0.267857142857143 TRUE TRUE +ENSG00000138604.10 . BCM GRCh38.p13 chr15 69255949 69255949 + G G T Missense_Mutation SNP ENST00000261858.7 exon3 c.G143T p.R48I exonic ENSG00000138604.10 . nonsynonymous SNV ENSG00000138604.10:ENST00000261858.7:exon3:c.G143T:p.R48I 15q23 C3L-00610 . . . . . . . . . 7.20 D D B B D D L T N 0.628 T T T 0.116 0.428 0.509 0.870 T T T T D D 3.022 23.500 0.984 D N -0.027 2.415 0.157 2.979 1.000 0.707 0.588 0.673 0.714 . 5.300 5.300 3.232 1.176 0.676 1.000 1.000 0.992 923 . . . . GLCE 250 0 123 55 0.308988764044944 TRUE TRUE +ENSG00000167881.15 . BCM GRCh38.p13 chr17 76039917 76039917 + A A C Missense_Mutation SNP ENST00000307877.7 exon16 c.T1673G p.F558C exonic ENSG00000167881.15 . nonsynonymous SNV ENSG00000167881.15:ENST00000307877.7:exon16:c.T1673G:p.F558C 17q25.1 C3L-00610 . . . . . . . . . 11.19 D D D P D D L . N 0.692 T T T 0.315 0.542 0.310 1.673 T T D D D D 4.524 32 0.993 D D 0.666 6.663 0.721 8.160 1.000 0.722 0.702 0.699 0.734 . 5.850 5.850 8.947 1.312 0.756 1.000 1.000 0.999 677 . . . . SRP68 187 1 103 36 0.258992805755396 TRUE TRUE +ENSG00000154832.15 . BCM GRCh38.p13 chr18 50286131 50286131 + T T A Missense_Mutation SNP ENST00000285106.10 exon4 c.A350T p.D117V exonic ENSG00000154832.15 . nonsynonymous SNV ENSG00000154832.15:ENST00000285106.10:exon4:c.A350T:p.D117V 18q21.1 C3L-00610 . . . . . . . . . 4.20 D T B B N D N T N 0.568 T T T 0.055 0.180 0.282 0.960 T T T T T D 2.419 22.200 0.947 D N -0.457 1.263 -0.322 1.519 1.000 0.732 0.672 0.744 0.734 . 3.620 2.310 1.350 1.129 0.654 0.994 0.867 0.957 823 . . . . CXXC1 120 0 77 27 0.259615384615385 TRUE TRUE +ENSG00000105137.13 . BCM GRCh38.p13 chr19 15113836 15113836 + G G - Frame_Shift_Del DEL ENST00000342784.7 exon8 c.2081delG p.V695Sfs*17 exonic ENSG00000105137.13 . frameshift deletion ENSG00000105137.13:ENST00000342784.7:exon8:c.2081delG:p.V695Sfs*17 19p13.12 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYDE1 360 0 199 54 0.213438735177866 TRUE TRUE +ENSG00000198521.12 . BCM GRCh38.p13 chr19 21809585 21809585 + C C A Missense_Mutation SNP ENST00000354959.9 exon4 c.G452T p.C151F exonic ENSG00000198521.12 . nonsynonymous SNV ENSG00000198521.12:ENST00000354959.9:exon4:c.G452T:p.C151F 19p12 C3L-00610 . . . . . . . . . 0.19 T T P B . N L T N 0.301 T T T 0.138 0.690 0.382 0.042 T T T T T T 0.733 8.754 0.515 N N -1.335 0.146 -1.547 0.091 0.002 0.563 0.588 0.464 0.636 . 1.540 -3.080 0.684 -0.475 0.289 0.774 0.014 0.848 988 . . . . ZNF43 93 0 40 7 0.148936170212766 TRUE TRUE +ENSG00000100218.12 . BCM GRCh38.p13 chr22 23063906 23063906 + C C T Missense_Mutation SNP ENST00000216036.9 exon5 c.G649A p.V217I exonic ENSG00000100218.12 . nonsynonymous SNV ENSG00000100218.12:ENST00000216036.9:exon5:c.G649A:p.V217I 22q11.22 C3L-00610 . . . . . . . . rs145362605 0.19 T T B B N N . T N 0.089 T T T 0.061 . 0.102 0.032 T T T T T T 0.116 2.241 0.711 N N -1.126 0.284 -1.071 0.406 0.781 0.554 0.574 0.602 0.613 . 4.710 -0.851 0.182 0.112 0.599 0.084 0.368 0.516 988 . . . . RSPH14 163 0 97 34 0.259541984732824 TRUE TRUE +ENSG00000100362.13 . BCM GRCh38.p13 chr22 36813742 36813742 + C C A Missense_Mutation SNP ENST00000417718.7 exon3 c.G208T p.G70C exonic ENSG00000100362.13 . nonsynonymous SNV ENSG00000100362.13:ENST00000417718.7:exon3:c.G208T:p.G70C 22q12.3 C3L-00610 . . . . . . . . . 15.19 D D D D D D M T D 0.611 D D D 0.517 0.483 0.393 0.960 T D T T D . 3.807 25.900 0.996 D D 0.295 3.753 0.295 3.689 0.999 0.615 0.590 0.659 0.639 . 5.410 4.400 1.069 1.026 0.597 0.996 0.941 0.879 889 EF-hand_domain . . . PVALB 166 1 97 41 0.297101449275362 TRUE TRUE +ENSG00000102313.9 . BCM GRCh38.p13 chrX 54758062 54758062 + G G T Missense_Mutation SNP ENST00000218436.7 exon8 c.C2012A p.S671Y exonic ENSG00000102313.9 . nonsynonymous SNV ENSG00000102313.9:ENST00000218436.7:exon8:c.C2012A:p.S671Y Xp11.22 C3L-00610 . . . . . . . . . 5.19 D D D D U N N T N 0.201 T T T 0.057 0.315 0.320 0.017 T T T T D T 2.160 20.600 0.980 N . . . . . 0.001 . . . . . 3.800 2.890 1.097 1.012 0.676 0.040 1.000 0.994 351 . . . . ITIH6 238 0 144 38 0.208791208791209 TRUE TRUE +ENSG00000181789.14 . BCM GRCh38.p13 chr3 129272806 129272806 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000181789.14 ENST00000314797.10:exon21:c.2159-1G>A . . 3q21.3 C3L-00610 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.697 34 0.995 D . 1.282 35.209 1.153 34.838 1.000 0.299 0.272 0.299 0.323 0.993 5.910 5.910 9.847 1.109 0.676 1.000 0.918 0.906 591 . . . . COPG1 59 0 33 16 0.326530612244898 TRUE TRUE +ENSG00000142765.18 . BCM GRCh38.p13 chr1 27345502 27345502 + C C G Silent SNP ENST00000616558.5 exon2 c.C168G p.R56R exonic ENSG00000142765.18 . synonymous SNV ENSG00000142765.18:ENST00000616558.5:exon2:c.C168G:p.R56R 1p36.11 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYTL1 62 0 62 16 0.205128205128205 TRUE TRUE +ENSG00000058404.20 . BCM GRCh38.p13 chr7 44226559 44226559 + C C T Silent SNP ENST00000395749.7 exon20 c.G1554A p.P518P exonic ENSG00000058404.20 . synonymous SNV ENSG00000058404.20:ENST00000395749.7:exon20:c.G1554A:p.P518P 7p13 C3L-00610 0.0002 0 0 0 0 0.0002 0 0.0003 rs761933277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51666795;OCCURENCE=1(large_intestine) CAMK2B 32 0 22 14 0.388888888888889 TRUE TRUE +ENSG00000005238.19 . BCM GRCh38.p13 chr9 35108029 35108029 + G G A Silent SNP ENST00000378561.5 exon2 c.C246T p.G82G exonic ENSG00000005238.19 . synonymous SNV ENSG00000005238.19:ENST00000378561.5:exon2:c.C246T:p.G82G 9p13.3 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM214B 26 0 8 3 0.272727272727273 TRUE NA +ENSG00000097007.19 . BCM GRCh38.p13 chr9 130884234 130884234 + C C T Silent SNP ENST00000318560.6 exon11 c.C1944T p.F648F exonic ENSG00000097007.19 . synonymous SNV ENSG00000097007.19:ENST00000318560.6:exon11:c.C1944T:p.F648F 9q34.12 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABL1 55 0 26 14 0.35 TRUE TRUE +ENSG00000137812.20 . BCM GRCh38.p13 chr15 40621914 40621914 + C C T Silent SNP ENST00000346991.9 exon11 c.C1728T p.S576S exonic ENSG00000137812.20 . synonymous SNV ENSG00000137812.20:ENST00000346991.9:exon11:c.C1728T:p.S576S 15q15.1 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KNL1 51 0 45 14 0.23728813559322 TRUE TRUE +ENSG00000140832.9 . BCM GRCh38.p13 chr16 71634314 71634314 + G G A Silent SNP ENST00000268485.7 exon3 c.G717A p.Q239Q exonic ENSG00000140832.9 . synonymous SNV ENSG00000140832.9:ENST00000268485.7:exon3:c.G717A:p.Q239Q 16q22.2 C3L-00610 . . . . . . . . . 3.8 . . . . . D . T N 0.283 . . D . . 0.585 . . . T T . . 1.240 13.940 0.864 D N . . . . 0.928 0.635 0.574 0.644 0.613 . 5.910 1.810 1.597 -0.639 -0.181 1.000 0.224 0.947 106 . . . . MARVELD3 162 0 106 25 0.190839694656489 TRUE NA +ENSG00000134769.21 . BCM GRCh38.p13 chr18 34838115 34838115 + A A G Silent SNP ENST00000444659.5 exon11 c.A1116G p.E372E exonic ENSG00000134769.21 . synonymous SNV ENSG00000134769.21:ENST00000444659.5:exon11:c.A1116G:p.E372E 18q12.1 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DTNA 349 0 268 88 0.247191011235955 TRUE TRUE +ENSG00000186300.12 . BCM GRCh38.p13 chr19 2852467 2852467 + G G A Silent SNP ENST00000334241.9 exon4 c.G402A p.K134K exonic ENSG00000186300.12 . synonymous SNV ENSG00000186300.12:ENST00000334241.9:exon4:c.G402A:p.K134K 19p13.3 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF555 162 0 119 41 0.25625 TRUE TRUE +ENSG00000188021.8 . BCM GRCh38.p13 chrX 56565442 56565442 + C C T Silent SNP ENST00000338222.6 exon1 c.C1569T p.A523A exonic ENSG00000188021.8 . synonymous SNV ENSG00000188021.8:ENST00000338222.6:exon1:c.C1569T:p.A523A Xp11.21 C3L-00610 5.332e-05 0 0 0 0 0.0001 0 0 rs762076931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBQLN2 172 1 155 68 0.304932735426009 TRUE NA +ENSG00000165349.12 . BCM GRCh38.p13 chrX 70929656 70929656 + G G T Silent SNP ENST00000374299.8 exon2 c.C342A p.G114G exonic ENSG00000165349.12 . synonymous SNV ENSG00000165349.12:ENST00000374299.8:exon2:c.C342A:p.G114G Xq13.1 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC7A3 105 0 59 25 0.297619047619048 TRUE TRUE +ENSG00000163472.19 . BCM GRCh38.p13 chr1 156291650 156291650 + A A C 3'UTR SNP NA NA NA NA UTR3 ENSG00000163472.19 ENST00000405535.3:c.*52A>C . . 1q22 C3L-00610 . . . . . . . . . 1.10 . . . . . N . . D 0.125 T T T 0.103 0.067 0.105 . . . T T T . -0.081 0.907 0.377 N N -1.157 0.259 -1.395 0.154 1.000 0.443 0.611 0.666 0.250 . 2.090 -3.040 -1.947 -1.002 -1.548 0.000 0.000 0.000 298 . . . . TMEM79 86 0 60 14 0.189189189189189 TRUE TRUE +ENSG00000133063.16 . BCM GRCh38.p13 chr1 203216094 203216094 + T T A 3'UTR SNP NA NA NA NA UTR3 ENSG00000133063.16 ENST00000367229.6:c.*795A>T . . 1q32.1 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHIT1 96 0 48 27 0.36 TRUE NA +ENSG00000135631.17 . BCM GRCh38.p13 chr2 73075495 73075495 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000135631.17 ENST00000258098.6:c.*26G>T . . 2p13.2 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB11FIP5 175 0 86 34 0.283333333333333 TRUE NA +ENSG00000188042.8 . BCM GRCh38.p13 chr2 234495832 234495832 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000188042.8 ENST00000390645.2:c.*176G>A . . 2q37.1 C3L-00610 . . . . . . . . . 0.14 T T . . . N . T N 0.075 T T T 0.094 0.266 0.385 . . . T T T T 1.339 14.660 0.900 N N -0.794 0.664 -0.861 0.674 1.000 0.726 0.749 0.522 0.604 . 3.430 -0.192 0.279 -0.016 0.599 0.004 0.848 0.885 804 . . . . ARL4C 302 0 194 63 0.245136186770428 TRUE NA +ENSG00000269609.6 . BCM GRCh38.p13 chr10 102451401 102451401 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000269609.6 . . . 10q24.32 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPARP-AS1 69 0 36 24 0.4 TRUE NA +ENSG00000010379.16 . BCM GRCh38.p13 chr12 259839 259839 + C C A Intron SNP NA NA NA NA intronic ENSG00000010379.16 . . . 12p13.33 C3L-00610 . . . . . . . . . 1.14 T T . . . N . T N 0.140 T T T 0.046 0.332 0.493 . . . T T T T 1.095 12.720 0.891 D N -0.853 0.581 -0.803 0.753 0.078 0.554 0.588 0.574 0.530 . 4.330 2.510 0.543 0.987 0.454 0.929 0.278 0.317 893 . . . . SLC6A13 214 3 181 13 0.0670103092783505 TRUE NA +ENSG00000279286.2 . BCM GRCh38.p13 chr14 91574573 91574573 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000279286.2 . . . 14q32.12 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL133373.2 158 0 100 44 0.305555555555556 TRUE NA +ENSG00000139865.16 . BCM GRCh38.p13 chr14 37804735 37804737 + GAC GAC CAT Unknown MNP ENST00000476979.5 exon5 c.278_280delinsCAT p.G93_P94delinsAS exonic ENSG00000139865.16 . nonframeshift substitution ENSG00000139865.16:ENST00000476979.5:exon5:c.278_280delinsCAT:p.G93_P94delinsAS 14q21.1 C3L-00610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC6 149 23 77 24 0.237623762376238 TRUE NA +ENSG00000276747.1 . BCM GRCh38.p13 chr1 17388504 17388504 + A A T Missense_Mutation SNP ENST00000619609.1 exon7 c.A803T p.E268V exonic ENSG00000276747.1 . nonsynonymous SNV ENSG00000276747.1:ENST00000619609.1:exon7:c.A803T:p.E268V 1p36.13 C3L-00765 . . . . . . . . . 1.7 . D . . . . N . . 0.157 . . . . . 0.130 . T T T T . . 0.358 4.951 0.439 N . . . . . 0.017 0.054 0.060 0.060 0.057 0.120 4.650 -4.020 -0.689 -0.831 -0.741 0.000 0.014 0.006 694 Protein-arginine_deiminase_(PAD),_central_domain . . . PADI6 92 0 81 6 0.0689655172413793 TRUE TRUE +ENSG00000142798.20 . BCM GRCh38.p13 chr1 21872332 21872332 + C C T Missense_Mutation SNP ENST00000374695.8 exon33 c.G4075A p.V1359M exonic ENSG00000142798.20 . nonsynonymous SNV ENSG00000142798.20:ENST00000374695.8:exon33:c.G4075A:p.V1359M 1p36.12 C3L-00765 . . . . . . . . . 9.20 D D P P N D M T N 0.321 T T D 0.344 0.380 0.651 0.703 T T T T D D 3.456 24.600 0.999 D D 0.239 3.482 0.225 3.310 1.000 0.722 0.624 0.725 0.735 . 4.540 2.660 4.378 1.026 0.599 1.000 1.000 0.981 804 Laminin_IV . . . HSPG2 57 0 128 7 0.0518518518518519 TRUE TRUE +ENSG00000160752.14 . BCM GRCh38.p13 chr1 155320424 155320424 + A A G Missense_Mutation SNP ENST00000356657.10 exon11 c.A1075G p.K359E exonic ENSG00000160752.14 . nonsynonymous SNV ENSG00000160752.14:ENST00000356657.10:exon11:c.A1075G:p.K359E 1q22 C3L-00765 . . . . . . . . . 8.20 D T B B N D M T N 0.232 T T D 0.216 0.483 0.491 0.486 T T T T D D 3.421 24.500 0.988 D D -0.191 1.903 -0.127 1.972 1.000 0.726 0.699 0.594 0.735 . 3.390 3.390 4.599 1.295 0.756 1.000 0.996 0.751 41 . . . . FDPS 243 0 207 31 0.130252100840336 TRUE NA +ENSG00000160785.13 . BCM GRCh38.p13 chr1 156200185 156200185 + T T C Missense_Mutation SNP ENST00000359511.4 exon2 c.T338C p.L113P exonic ENSG00000160785.13 . nonsynonymous SNV ENSG00000160785.13:ENST00000359511.4:exon2:c.T338C:p.L113P 1q22 C3L-00765 . . . . . . . . . 19.20 D D D D D D M D D 0.952 D D D 0.917 0.765 0.783 2.164 D T D D D D 4.206 28.700 0.999 D D 0.929 11.836 0.878 12.824 1.000 0.707 0.672 0.725 0.714 . 5.900 5.900 7.804 1.138 0.609 1.000 0.998 0.998 482 . . . . SLC25A44 153 0 123 20 0.13986013986014 TRUE TRUE +ENSG00000163382.12 . BCM GRCh38.p13 chr1 156592470 156592470 + C C G Missense_Mutation SNP ENST00000368235.8 exon3 c.C397G p.L133V exonic ENSG00000163382.12 . nonsynonymous SNV ENSG00000163382.12:ENST00000368235.8:exon3:c.C397G:p.L133V 1q22 C3L-00765 . . . . . . . . . 6.20 T T P P D D M T N 0.487 T T T 0.162 0.518 0.255 0.634 T T T T D T 2.742 22.900 0.988 D D 0.244 3.504 0.247 3.423 1.000 0.628 0.686 0.522 0.658 . 4.410 3.410 3.915 1.026 0.599 0.998 0.994 0.926 716 YjeF_N-terminal_domain . . . NAXE 136 0 163 24 0.128342245989305 TRUE TRUE +ENSG00000196187.12 . BCM GRCh38.p13 chr1 225857014 225857014 + G G C Missense_Mutation SNP ENST00000366835.8 exon16 c.C1381G p.P461A exonic ENSG00000196187.12 . nonsynonymous SNV ENSG00000196187.12:ENST00000366835.8:exon16:c.C1381G:p.P461A 1q42.12 C3L-00765 . . . . . . . . . 14.20 D D D D D D M T D 0.789 T T D 0.341 0.645 0.455 0.742 T T D T D D 3.739 25.600 0.997 D D 0.771 8.239 0.741 8.589 1.000 0.706 0.644 0.710 0.714 . 5.120 5.120 9.770 1.164 0.662 1.000 0.058 0.620 739 Calcium-dependent_channel,_7TM_region,_putative_phosphate . . . TMEM63A 45 0 89 7 0.0729166666666667 NA TRUE +ENSG00000115548.17 . BCM GRCh38.p13 chr2 86474843 86474843 + G G T Nonsense_Mutation SNP ENST00000312912.10 exon12 c.G1792T p.E598X exonic ENSG00000115548.17 . stopgain ENSG00000115548.17:ENST00000312912.10:exon12:c.G1792T:p.E598X 2p11.2 C3L-00765 . . . . . . . . . 5.6 . . . . D A . . . 0.910 . . . . . . . . . D D . . 7.367 38 0.997 D N 1.172 21.445 1.032 20.966 1.000 0.707 0.725 0.725 0.714 . 5.870 5.870 6.524 1.176 0.676 1.000 0.956 0.908 483 . . . . KDM3A 249 0 121 7 0.0546875 TRUE TRUE +ENSG00000125633.11 . BCM GRCh38.p13 chr2 117974868 117974876 + GGTCATCTT GGTCATCTT - In_Frame_Del DEL ENST00000376300.7 exon10 c.775_783del p.K259_T261del exonic ENSG00000125633.11 . nonframeshift deletion ENSG00000125633.11:ENST00000376300.7:exon10:c.775_783del:p.K259_T261del 2q14.1 C3L-00765 . . . . . . . . rs779106928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC93 193 0 155 13 0.0773809523809524 TRUE NA +ENSG00000136709.12 . BCM GRCh38.p13 chr2 127724955 127724955 + C C T Nonsense_Mutation SNP ENST00000322313.9 exon10 c.G1017A p.W339X exonic ENSG00000136709.12 . stopgain ENSG00000136709.12:ENST00000322313.9:exon10:c.G1017A:p.W339X 2q14.3 C3L-00765 . . . . . . . . . 5.6 . . . . D A . . . 0.386 . . . . . . . . . D D . . 7.385 38 0.994 D N 0.979 13.261 0.876 12.776 1.000 0.732 0.725 0.744 0.684 . 5.720 5.720 7.715 1.026 0.599 1.000 1.000 0.998 934 WD40-repeat-containing_domain . . . WDR33 249 1 130 18 0.121621621621622 TRUE TRUE +ENSG00000091436.17 . BCM GRCh38.p13 chr2 173266588 173266588 + T T - Frame_Shift_Del DEL ENST00000375213.8 exon20 c.2241delT p.L748Cfs*84 exonic ENSG00000091436.17 . frameshift deletion ENSG00000091436.17:ENST00000375213.8:exon20:c.2241delT:p.L748Cfs*84 2q31.1 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K20 100 0 59 20 0.253164556962025 TRUE TRUE +ENSG00000144354.14 . BCM GRCh38.p13 chr2 173363364 173363364 + G G A Missense_Mutation SNP ENST00000347703.7 exon3 c.G286A p.E96K exonic ENSG00000144354.14 . nonsynonymous SNV ENSG00000144354.14:ENST00000347703.7:exon3:c.G286A:p.E96K 2q31.1 C3L-00765 . . . . . . . . . 2.20 T T B B N N M T N 0.162 T T T 0.112 0.194 0.422 0.364 T T T T T T 1.953 18.900 0.988 D N -0.464 1.249 -0.439 1.304 1.000 0.707 0.725 0.725 0.714 . 5.670 4.790 2.626 0.230 -0.106 0.991 0.006 0.021 520 . . . . CDCA7 362 0 363 55 0.131578947368421 TRUE TRUE +ENSG00000178385.15 . BCM GRCh38.p13 chr2 207908575 207908575 + A A T Missense_Mutation SNP ENST00000427836.8 exon6 c.T1889A p.I630N exonic ENSG00000178385.15 . nonsynonymous SNV ENSG00000178385.15:ENST00000427836.8:exon6:c.T1889A:p.I630N 2q33.3 C3L-00765 . . . . . . . . . 15.19 D D D D D D L D D 0.701 T T D 0.789 0.670 0.764 2.795 D T D D D . 4.190 28.600 0.978 D D 0.699 7.107 0.679 7.373 1.000 0.615 0.588 0.618 0.655 . 5.040 5.040 6.057 1.307 0.751 1.000 1.000 0.980 719 Putative_zinc-RING_and/or_ribbon . . . PLEKHM3 124 0 69 8 0.103896103896104 TRUE TRUE +ENSG00000182580.3 . BCM GRCh38.p13 chr3 184577101 184577101 + G G C Missense_Mutation SNP ENST00000330394.3 exon5 c.G1272C p.E424D exonic ENSG00000182580.3 . nonsynonymous SNV ENSG00000182580.3:ENST00000330394.3:exon5:c.G1272C:p.E424D 3q27.1 C3L-00765 . . . . . . . . . 10.20 T T D D D D M T N 0.868 T T D 0.289 0.465 0.725 0.766 T T T T D D 3.041 23.500 0.997 D D 0.520 5.195 0.459 4.806 1.000 0.624 0.610 0.668 0.613 . 5.290 4.420 5.047 1.166 0.665 1.000 1.000 0.973 512 Fibronectin_type_III . . . EPHB3 118 0 207 47 0.18503937007874 TRUE TRUE +ENSG00000164347.18 . BCM GRCh38.p13 chr5 74726102 74726102 + T T C Missense_Mutation SNP ENST00000296805.8 exon18 c.A1751G p.D584G exonic ENSG00000164347.18 . nonsynonymous SNV ENSG00000164347.18:ENST00000296805.8:exon18:c.A1751G:p.D584G 5q13.3 C3L-00765 . . . . . . . . . 6.20 T T B B D D L T N 0.192 T T T 0.155 0.613 0.323 0.240 T T T T D D 2.495 22.400 0.869 D D -0.287 1.647 -0.051 2.192 1.000 0.707 0.725 0.702 0.714 . 5.700 5.700 5.767 1.138 0.665 1.000 0.985 0.986 409 Translation_elongation_factor_EFG/EF2,_domain_IV . . . GFM2 63 0 21 3 0.125 TRUE TRUE +ENSG00000204256.13 . BCM GRCh38.p13 chr6 32976563 32976563 + A A G Missense_Mutation SNP ENST00000374825.9 exon7 c.A827G p.K276R exonic ENSG00000204256.13 . nonsynonymous SNV ENSG00000204256.13:ENST00000374825.9:exon7:c.A827G:p.K276R 6p21.32 C3L-00765 8.78e-06 0.0001 0 0 0 0 0 0 rs774228931 7.20 T T B B D D M T N 0.582 T T T 0.117 0.207 0.670 . D T T T T D 3.096 23.600 0.996 D D 0.284 3.700 0.362 4.100 1.000 0.722 0.672 0.699 0.639 . 4.970 4.970 7.560 1.301 0.743 1.000 0.997 0.842 906 . . . . BRD2 39 0 31 12 0.27906976744186 TRUE NA +ENSG00000188994.13 . BCM GRCh38.p13 chr6 87256301 87256301 + A A - Frame_Shift_Del DEL ENST00000369577.8 exon8 c.2672delA p.D891Vfs*9 exonic ENSG00000188994.13 . frameshift deletion ENSG00000188994.13:ENST00000369577.8:exon8:c.2672delA:p.D891Vfs*9 6q14.3 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF292 185 0 75 7 0.0853658536585366 TRUE NA +ENSG00000188994.13 . BCM GRCh38.p13 chr6 87256303 87256303 + A A T Nonsense_Mutation SNP ENST00000369577.8 exon8 c.A2674T p.K892X exonic ENSG00000188994.13 . stopgain ENSG00000188994.13:ENST00000369577.8:exon8:c.A2674T:p.K892X 6q14.3 C3L-00765 . . . . . . . . . 4.6 . . . . N D . . . 0.260 . . . . . . . . . D D . . 5.823 35 0.989 D N 0.253 3.545 0.069 2.611 0.023 0.672 0.702 0.702 0.636 . 5.620 3.340 0.434 0.320 -0.113 0.780 0.996 0.934 824 . . . ID=COSV60547559;OCCURENCE=1(urinary_tract) ZNF292 188 0 83 8 0.0879120879120879 NA TRUE +ENSG00000179869.15 . BCM GRCh38.p13 chr7 48352285 48352285 + G G A Missense_Mutation SNP ENST00000435803.6 exon31 c.G10486A p.V3496M exonic ENSG00000179869.15 . nonsynonymous SNV ENSG00000179869.15:ENST00000435803.6:exon31:c.G10486A:p.V3496M 7p12.3 C3L-00765 3.313e-05 0 0.0003 0 0 1.499e-05 0 0 rs779857244 2.16 T T . . N N . D N 0.241 T T D 0.239 . 0.236 0.025 T . T T T T 1.022 11.900 0.075 N N -1.158 0.258 -0.892 0.631 0.999 0.487 0.590 0.547 0.564 . 4.780 2.350 3.850 0.288 -0.087 1.000 0.934 0.624 678 . . . . ABCA13 192 0 164 9 0.0520231213872832 TRUE NA +ENSG00000106261.17 . BCM GRCh38.p13 chr7 100024293 100024293 + T T A Missense_Mutation SNP ENST00000324306.11 exon3 c.T566A p.L189H exonic ENSG00000106261.17 . nonsynonymous SNV ENSG00000106261.17:ENST00000324306.11:exon3:c.T566A:p.L189H 7q22.1 C3L-00765 . . . . . . . . . 5.20 T T D D D D L T N 0.359 T T T 0.084 0.349 0.333 1.314 T T T T T T 2.015 19.370 0.961 D N 0.076 2.794 0.126 2.845 1.000 0.707 0.698 0.725 0.711 . 4.510 4.510 1.034 1.126 0.609 0.849 0.960 0.963 122 . . . . ZKSCAN1 130 0 98 25 0.203252032520325 TRUE TRUE +ENSG00000106278.12 . BCM GRCh38.p13 chr7 122019222 122019222 + A A C Missense_Mutation SNP ENST00000393386.7 exon13 c.A4942C p.T1648P exonic ENSG00000106278.12 . nonsynonymous SNV ENSG00000106278.12:ENST00000393386.7:exon13:c.A4942C:p.T1648P 7q31.32 C3L-00765 . . . . . . . . . 18.20 D D D D D D M T D 0.716 D D D 0.589 0.658 0.289 0.547 T D D D D D 3.990 26.900 0.997 D D 0.713 7.303 0.695 7.659 0.999 0.706 0.574 0.710 0.564 . 5.370 5.370 6.516 1.288 0.691 1.000 1.000 0.999 725 . . . . PTPRZ1 199 0 101 10 0.0900900900900901 TRUE TRUE +ENSG00000205038.12 . BCM GRCh38.p13 chr8 109444778 109444778 + G G T Missense_Mutation SNP ENST00000378402.10 exon38 c.G4909T p.V1637F exonic ENSG00000205038.12 . nonsynonymous SNV ENSG00000205038.12:ENST00000378402.10:exon38:c.G4909T:p.V1637F 8q23.1 C3L-00765 . . . . . . . . . 16.20 D D D D D D M T D 0.805 D D D 0.625 0.502 0.391 0.241 T T D D D T 3.527 24.800 0.992 D D 0.398 4.332 0.319 3.829 0.992 0.554 0.574 0.547 0.621 . 5.730 4.860 5.175 0.230 -0.106 1.000 0.710 0.114 685 IPT_domain . . . PKHD1L1 223 0 106 7 0.0619469026548673 TRUE TRUE +ENSG00000176399.4 . BCM GRCh38.p13 chr9 22451514 22451514 + A A G Missense_Mutation SNP ENST00000325870.3 exon2 c.A1118G p.N373S exonic ENSG00000176399.4 . nonsynonymous SNV ENSG00000176399.4:ENST00000325870.3:exon2:c.A1118G:p.N373S 9p21.3 C3L-00765 . . . . . . . . . 0.20 T T B B N N N T N 0.005 T T T 0.013 0.154 0.235 0.122 T T T T T T 0.139 2.467 0.218 N N -1.467 0.092 -1.373 0.165 0.247 0.615 0.590 0.659 0.655 . 5.930 1.920 0.095 -0.701 -0.828 0.000 0.058 0.277 823 . . . . DMRTA1 299 0 141 15 0.0961538461538462 TRUE TRUE +ENSG00000165092.13 . BCM GRCh38.p13 chr9 72909754 72909754 + A A - Frame_Shift_Del DEL ENST00000297785.8 exon11 c.1206delT p.F402Lfs*8 exonic ENSG00000165092.13 . frameshift deletion ENSG00000165092.13:ENST00000297785.8:exon11:c.1206delT:p.F402Lfs*8 9q21.13 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALDH1A1 91 0 34 5 0.128205128205128 TRUE TRUE +ENSG00000120053.12 . BCM GRCh38.p13 chr10 99402613 99402613 + G G C Missense_Mutation SNP ENST00000370508.7 exon8 c.C1069G p.Q357E exonic ENSG00000120053.12 . nonsynonymous SNV ENSG00000120053.12:ENST00000370508.7:exon8:c.C1069G:p.Q357E 10q24.2 C3L-00765 . . . . . . . . . 19.20 D D D D D D M D D 0.869 D D D 0.846 0.941 0.969 1.351 T D D D D D 3.978 26.800 0.995 D D 0.930 11.849 0.867 12.398 1.000 0.707 0.725 0.725 0.714 . 5.880 4.980 10.003 1.176 0.676 1.000 0.998 0.987 521 Aminotransferase,_class_I/classII . . . GOT1 120 0 120 10 0.0769230769230769 TRUE TRUE +ENSG00000142186.17 . BCM GRCh38.p13 chr11 65537028 65537028 + C C T Missense_Mutation SNP ENST00000270176.10 exon14 c.C1859T p.T620I exonic ENSG00000142186.17 . nonsynonymous SNV ENSG00000142186.17:ENST00000270176.10:exon14:c.C1859T:p.T620I 11q13.1 C3L-00765 . . . . . . . . . 2.19 D D P B N N . T N 0.159 T T T 0.009 0.215 0.150 0.390 T T T T T T 3.977 26.800 0.994 N N -0.709 0.797 -0.755 0.821 1.000 0.672 0.702 0.644 0.711 . 5.360 1.830 0.083 1.026 0.599 0.000 0.508 0.912 278 . . . . SCYL1 181 0 350 36 0.0932642487046632 TRUE TRUE +ENSG00000067798.16 . BCM GRCh38.p13 chr12 78006730 78006730 + C C T Missense_Mutation SNP ENST00000397909.7 exon8 c.C1192T p.R398C exonic ENSG00000067798.16 . nonsynonymous SNV ENSG00000067798.16:ENST00000397909.7:exon8:c.C1192T:p.R398C 12q21.2 C3L-00765 4.968e-05 0.0002 8.643e-05 0 0 2.997e-05 0 6.056e-05 rs375778220 10.19 D D D P U D M T D 0.836 T T T 0.210 . 0.374 0.713 T T T D D D 3.199 23.900 0.999 D . 0.182 3.225 0.251 3.443 0.886 0.563 0.574 0.618 0.636 . 5.740 5.740 1.725 1.026 0.599 0.968 0.856 0.431 946 . . . ID=COSV57077197;OCCURENCE=1(stomach) NAV3 200 0 187 39 0.172566371681416 TRUE TRUE +ENSG00000135144.7 . BCM GRCh38.p13 chr12 113077706 113077706 + T T C Missense_Mutation SNP ENST00000257600.3 exon2 c.T542C p.V181A exonic ENSG00000135144.7 . nonsynonymous SNV ENSG00000135144.7:ENST00000257600.3:exon2:c.T542C:p.V181A 12q24.13 C3L-00765 . . . . . . . . . 4.20 T T B B D N L T N 0.058 T T D 0.070 0.401 0.359 . D T T T T T 1.992 19.200 0.443 D N -0.512 1.153 -0.403 1.366 1.000 0.767 0.851 0.504 0.639 . 3.450 3.450 1.668 1.103 0.637 0.740 0.984 0.396 653 . . . . DTX1 126 0 229 22 0.0876494023904383 TRUE TRUE +ENSG00000125257.16 . BCM GRCh38.p13 chr13 95206725 95206725 + G G T Nonsense_Mutation SNP ENST00000645237.2 exon8 c.C968A p.S323X exonic ENSG00000125257.16 . stopgain ENSG00000125257.16:ENST00000645237.2:exon8:c.C968A:p.S323X 13q32.1 C3L-00765 . . . . . . . . . 5.6 . . . . D A . . . 0.972 . . . . . . . . . D D . . 8.527 43 0.996 D N 0.826 9.313 0.635 6.687 1.000 0.722 0.725 0.659 0.735 . 5.580 5.580 9.235 1.176 0.676 1.000 0.050 0.252 861 ABC_transporter_type_1,_transmembrane_domain . . . ABCC4 249 0 331 24 0.0676056338028169 TRUE TRUE +ENSG00000100889.12 . BCM GRCh38.p13 chr14 24103253 24103253 + A A G Missense_Mutation SNP ENST00000216780.9 exon9 c.A1466G p.K489R exonic ENSG00000100889.12 . nonsynonymous SNV ENSG00000100889.12:ENST00000216780.9:exon9:c.A1466G:p.K489R 14q12 C3L-00765 . . . . . . . . . 8.19 D D B B N D M T D 0.357 T T T 0.200 0.427 0.402 0.050 T T T T D . 3.159 23.800 0.997 D D 0.153 3.102 0.251 3.445 1.000 0.672 0.702 0.702 0.636 . 5.610 4.470 6.110 1.312 0.756 1.000 1.000 0.987 883 Phosphoenolpyruvate_carboxykinase,_GTP-utilising,_C-terminal . . . PCK2 146 0 193 21 0.0981308411214953 TRUE TRUE +ENSG00000140015.20 . BCM GRCh38.p13 chr14 62950499 62950499 + C C A Missense_Mutation SNP ENST00000322893.12 exon7 c.G1003T p.A335S exonic ENSG00000140015.20 . nonsynonymous SNV ENSG00000140015.20:ENST00000322893.12:exon7:c.G1003T:p.A335S 14q23.2 C3L-00765 . . . . . . . . . 16.20 D D D P D D L D N 0.697 D D D 0.833 0.713 0.927 1.665 T D D D D D 3.539 24.800 0.998 D D 0.668 6.689 0.722 8.175 1.000 0.554 0.574 0.618 0.564 . 5.790 5.790 7.897 1.016 0.537 1.000 0.999 0.987 901 Ion_transport_domain . . . KCNH5 130 0 131 10 0.0709219858156028 TRUE TRUE +ENSG00000187775.17 . BCM GRCh38.p13 chr17 78437699 78437699 + T T - Frame_Shift_Del DEL ENST00000389840.7 exon74 c.11975delA p.N3992Tfs*173 exonic ENSG00000187775.17 . frameshift deletion ENSG00000187775.17:ENST00000389840.7:exon74:c.11975delA:p.N3992Tfs*173 17q25.3 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH17 92 0 109 17 0.134920634920635 TRUE TRUE +ENSG00000266074.8 . BCM GRCh38.p13 chr17 81459288 81459288 + G G A Missense_Mutation SNP ENST00000584436.7 exon23 c.G5849A p.R1950Q exonic ENSG00000266074.8 . nonsynonymous SNV ENSG00000266074.8:ENST00000584436.7:exon23:c.G5849A:p.R1950Q 17q25.3 C3L-00765 8.8e-06 0 0 0 0 1.596e-05 0 0 rs782751405 11.19 D D D D N D . T D 0.736 T T D 0.325 0.431 0.276 0.489 T T T T D D 4.466 32 0.999 D D 0.734 7.620 0.682 7.422 1.000 0.646 0.547 0.604 0.700 . 4.350 4.350 7.241 1.176 0.676 1.000 0.983 0.980 . . . . ID=COSV57033926;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) BAHCC1 98 1 169 20 0.105820105820106 TRUE TRUE +ENSG00000074657.13 . BCM GRCh38.p13 chr18 58939596 58939596 + C C T Missense_Mutation SNP ENST00000336078.8 exon6 c.C2680T p.P894S exonic ENSG00000074657.13 . nonsynonymous SNV ENSG00000074657.13:ENST00000336078.8:exon6:c.C2680T:p.P894S 18q21.32 C3L-00765 . . . . . . . . . 9.20 T T D D D D N T D 0.729 T T T 0.401 0.520 0.093 1.511 T T T T D D 3.878 26.200 0.999 D D 0.664 6.648 0.710 7.950 1.000 0.672 0.588 0.702 0.636 . 5.430 5.430 7.899 1.022 0.589 1.000 1.000 1.000 835 Zinc_finger_C2H2-type . . . ZNF532 91 0 61 13 0.175675675675676 TRUE TRUE +ENSG00000105401.9 . BCM GRCh38.p13 chr19 10393372 10393372 + G G T Missense_Mutation SNP ENST00000222005.7 exon6 c.C796A p.R266S exonic ENSG00000105401.9 . nonsynonymous SNV ENSG00000105401.9:ENST00000222005.7:exon6:c.C796A:p.R266S 19p13.2 C3L-00765 . . . . . . . . . 14.20 D D P P D D M T D 0.609 T T D 0.460 0.723 0.750 0.861 T D D D D D 3.628 25.100 0.997 D D 0.407 4.385 0.352 4.032 1.000 0.707 0.702 0.571 0.714 . 3.540 3.540 5.364 1.176 0.616 1.000 0.998 0.995 799 Cdc37,_Hsp90_binding . . . CDC37 148 0 284 60 0.174418604651163 TRUE TRUE +ENSG00000170684.9 . BCM GRCh38.p13 chr19 45076357 45076357 + G G A Missense_Mutation SNP ENST00000303809.7 exon1 c.C17T p.A6V exonic ENSG00000170684.9 . nonsynonymous SNV ENSG00000170684.9:ENST00000303809.7:exon1:c.C17T:p.A6V 19q13.32 C3L-00765 . . . . . . . . . 3.20 D T B B N N L T N 0.150 T T D 0.026 0.192 0.043 0.560 T T T T D T 2.863 23.100 0.993 N N -0.610 0.969 -0.508 1.190 1.000 0.442 0.522 0.240 0.562 . 5.290 1.540 0.117 0.215 -0.119 0.132 0.970 0.195 940 . . . . ZNF296 12 0 19 6 0.24 TRUE TRUE +ENSG00000087076.9 . BCM GRCh38.p13 chr19 48813195 48813195 + C C T Missense_Mutation SNP ENST00000263278.9 exon9 c.G793A p.A265T exonic ENSG00000087076.9 . nonsynonymous SNV ENSG00000087076.9:ENST00000263278.9:exon9:c.G793A:p.A265T 19q13.33 C3L-00765 1.128e-05 0 0.0001 0 0 0 0 0 rs760796044 2.20 T T B B N N L D N 0.170 T T D 0.321 0.111 0.107 0.243 T T T T T T -0.787 0.027 0.875 N N -1.625 0.050 -1.691 0.053 0.999 0.706 0.710 0.269 0.613 . 3.880 -4.480 -1.517 -1.695 -2.031 0.000 0.000 0.000 759 . . . ID=COSV54414915;OCCURENCE=1(large_intestine),1(lung) HSD17B14 38 0 76 12 0.136363636363636 TRUE TRUE +ENSG00000088305.18 . BCM GRCh38.p13 chr20 32788860 32788860 + A A G Missense_Mutation SNP ENST00000328111.6 exon7 c.A661G p.K221E exonic ENSG00000088305.18 . nonsynonymous SNV ENSG00000088305.18:ENST00000328111.6:exon7:c.A661G:p.K221E 20q11.21 C3L-00765 . . . . . . . . . 12.20 D T D D D D M T D 0.741 T T D 0.457 0.342 0.679 0.300 T T D T D D 4.169 28.400 0.998 D N 0.499 5.031 0.505 5.205 0.987 0.672 0.588 0.702 0.636 . 5.610 4.470 3.223 1.312 0.756 0.993 0.996 0.968 310 . . . . DNMT3B 146 1 234 14 0.0564516129032258 TRUE NA +ENSG00000131061.14 . BCM GRCh38.p13 chr20 33745244 33745255 + CACCTTCGGCAG CACCTTCGGCAG - In_Frame_Del DEL ENST00000375200.6 exon3 c.284_295del p.S97_P100del exonic ENSG00000131061.14 . nonframeshift deletion ENSG00000131061.14:ENST00000375200.6:exon3:c.284_295del:p.S97_P100del 20q11.22 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF341 150 0 224 31 0.12156862745098 TRUE TRUE +ENSG00000101126.18 . BCM GRCh38.p13 chr20 50894147 50894147 + A A C Missense_Mutation SNP ENST00000621696.5 exon6 c.T567G p.F189L exonic ENSG00000101126.18 . nonsynonymous SNV ENSG00000101126.18:ENST00000621696.5:exon6:c.T567G:p.F189L 20q13.13 C3L-00765 . . . . . . . . . 14.20 D D D D D D L T D 0.759 T T D 0.358 0.373 0.719 . D D D T D D 3.783 25.800 0.992 D N 0.596 5.878 0.596 6.173 1.000 0.722 0.699 0.702 0.711 . 6.080 4.990 3.369 1.312 0.756 1.000 1.000 1.000 805 . . . . ADNP 141 0 81 14 0.147368421052632 TRUE TRUE +ENSG00000132819.17 . BCM GRCh38.p13 chr20 57392663 57392663 + G G A Missense_Mutation SNP ENST00000356208.10 exon2 c.G247A p.A83T exonic ENSG00000132819.17 . nonsynonymous SNV ENSG00000132819.17:ENST00000356208.10:exon2:c.G247A:p.A83T 20q13.31 C3L-00765 . . . . . . . . . 7.20 T T B B N D L D N 0.119 T D D 0.156 0.322 0.734 1.058 T T T T D D 2.390 22.000 0.995 D N -0.175 1.947 -0.040 2.226 1.000 0.726 0.522 0.594 0.639 . 4.920 3.970 3.745 1.176 0.674 1.000 0.863 0.165 863 RNA_recognition_motif_domain . . . RBM38 88 0 168 47 0.218604651162791 TRUE TRUE +ENSG00000101187.16 . BCM GRCh38.p13 chr20 62656630 62656630 + T T C Missense_Mutation SNP ENST00000217159.6 exon2 c.T176C p.L59P exonic ENSG00000101187.16 . nonsynonymous SNV ENSG00000101187.16:ENST00000217159.6:exon2:c.T176C:p.L59P 20q13.33 C3L-00765 . . . . . . . . . 5.20 T D D P N D L T N 0.260 T T D 0.312 0.438 0.678 0.392 T T T T T T 2.245 21.200 0.997 D N 0.198 3.296 0.112 2.784 1.000 0.646 0.577 0.645 0.700 . 4.310 4.310 0.682 0.197 0.665 0.018 0.001 0.007 608 . . . . SLCO4A1 199 0 332 47 0.12401055408971 TRUE TRUE +ENSG00000160190.14 . BCM GRCh38.p13 chr21 42518457 42518457 + G G A Translation_Start_Site SNP ENST00000352133.3 exon2 c.G3A p.M1? exonic ENSG00000160190.14 . startloss ENSG00000160190.14:ENST00000352133.3:exon2:c.G3A:p.M1? 21q22.3 C3L-00765 . . . . . . . . . 13.18 D D D D D D . T D 0.891 T T D 0.361 0.921 0.454 . . T D D D D 3.356 24.300 0.993 D N 0.565 5.582 0.518 5.329 1.000 0.707 0.581 0.719 0.714 . 5.250 5.250 5.564 1.083 0.676 1.000 0.942 0.388 994 . . . . SLC37A1 295 0 310 24 0.0718562874251497 TRUE NA +ENSG00000197779.13 . BCM GRCh38.p13 chrX 47916265 47916265 + A A C Missense_Mutation SNP ENST00000376954.5 exon6 c.A1619C p.N540T exonic ENSG00000197779.13 . nonsynonymous SNV ENSG00000197779.13:ENST00000376954.5:exon6:c.A1619C:p.N540T Xp11.23 C3L-00765 . . . . . . . . . 3.19 T T B B D N L T D 0.182 T T T 0.126 0.383 0.653 0.664 T T T T D T 1.889 18.400 0.993 N . . . . . 0.003 . . . . . 4.400 4.400 -0.819 1.118 0.691 0.000 1.000 0.999 422 Zinc_finger_C2H2-type . . . ZNF81 332 0 116 21 0.153284671532847 TRUE TRUE +ENSG00000146904.9 . BCM GRCh38.p13 chr7 143391619 143391619 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000146904.9 ENST00000275815.4:exon17:c.2852+1G>C . . 7q34 C3L-00765 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 4.952 33 0.956 D . 0.727 7.507 0.511 5.259 1.000 0.116 0.078 0.172 0.127 0.833 4.940 4.070 7.523 1.026 0.599 1.000 0.980 0.833 . . . . ID=COSV51969088;OCCURENCE=1(large_intestine) EPHA1 115 0 253 67 0.209375 TRUE TRUE +ENSG00000227059.7 . BCM GRCh38.p13 chr12 133231516 133231516 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000227059.7 ENST00000419717.3:exon3:c.377+1G>T . . 12q24.33 C3L-00765 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.631 32 0.992 D . 0.855 9.947 0.645 6.836 0.436 0.057 0.063 0.074 0.063 0.948 3.880 3.880 1.761 0.793 0.599 1.000 0.948 0.878 363 . . . . ANHX 132 0 263 18 0.0640569395017794 TRUE TRUE +ENSG00000118873.16 . BCM GRCh38.p13 chr1 220151690 220151690 + A A G Silent SNP ENST00000358951.7 exon34 c.T3942C p.H1314H exonic ENSG00000118873.16 . synonymous SNV ENSG00000118873.16:ENST00000358951.7:exon34:c.T3942C:p.H1314H 1q41 C3L-00765 . . . . . . . . rs146611810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB3GAP2 279 0 230 29 0.111969111969112 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178599744 178599744 + A A G Silent SNP ENST00000591111.5 exon239 c.T51234C p.F17078F exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon239:c.T51234C:p.F17078F 2q31.2 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 108 0 49 4 0.0754716981132075 TRUE TRUE +ENSG00000288436.1 . BCM GRCh38.p13 chr3 126572358 126572358 + C C T Silent SNP ENST00000383572.3 exon3 c.G186A p.L62L exonic ENSG00000288436.1 . synonymous SNV ENSG00000288436.1:ENST00000383572.3:exon3:c.G186A:p.L62L 3q21.3 C3L-00765 8.246e-06 0 0 0 0 1.5e-05 0 0 rs748697446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC024558.2 62 0 79 21 0.21 TRUE NA +ENSG00000163322.14 . BCM GRCh38.p13 chr4 83469097 83469097 + C C A Silent SNP ENST00000321945.12 exon6 c.G531T p.L177L exonic ENSG00000163322.14 . synonymous SNV ENSG00000163322.14:ENST00000321945.12:exon6:c.G531T:p.L177L 4q21.23 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABRAXAS1 174 1 76 5 0.0617283950617284 TRUE NA +ENSG00000204256.13 . BCM GRCh38.p13 chr6 32976606 32976606 + T T C Silent SNP ENST00000374825.9 exon7 c.T870C p.P290P exonic ENSG00000204256.13 . synonymous SNV ENSG00000204256.13:ENST00000374825.9:exon7:c.T870C:p.P290P 6p21.32 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRD2 59 0 83 6 0.0674157303370786 TRUE TRUE +ENSG00000110107.9 . BCM GRCh38.p13 chr11 60891184 60891184 + G G T Silent SNP ENST00000227524.9 exon16 c.C1497A p.L499L exonic ENSG00000110107.9 . synonymous SNV ENSG00000110107.9:ENST00000227524.9:exon16:c.C1497A:p.L499L 11q12.2 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRPF19 166 0 180 36 0.166666666666667 TRUE TRUE +ENSG00000168067.12 . BCM GRCh38.p13 chr11 64797664 64797664 + C C T Silent SNP ENST00000294066.7 exon16 c.G1098A p.G366G exonic ENSG00000168067.12 . synonymous SNV ENSG00000168067.12:ENST00000294066.7:exon16:c.G1098A:p.G366G 11q13.1 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP4K2 116 0 215 26 0.107883817427386 TRUE TRUE +ENSG00000111640.15 . BCM GRCh38.p13 chr12 6537118 6537118 + A A G Silent SNP ENST00000229239.10 exon6 c.A345G p.G115G exonic ENSG00000111640.15 . synonymous SNV ENSG00000111640.15:ENST00000229239.10:exon6:c.A345G:p.G115G 12p13.31 C3L-00765 8.254e-06 0 0 0 0 1.503e-05 0 0 rs753299793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GAPDH 138 1 231 53 0.186619718309859 TRUE NA +ENSG00000139155.8 . BCM GRCh38.p13 chr12 20723223 20723223 + A A G Silent SNP ENST00000266509.6 exon9 c.A1155G p.G385G exonic ENSG00000139155.8 . synonymous SNV ENSG00000139155.8:ENST00000266509.6:exon9:c.A1155G:p.G385G 12p12.2 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLCO1C1 257 0 94 27 0.223140495867769 TRUE TRUE +ENSG00000135452.10 . BCM GRCh38.p13 chr12 57745861 57745861 + A A G Silent SNP ENST00000257910.8 exon2 c.A180G p.A60A exonic ENSG00000135452.10 . synonymous SNV ENSG00000135452.10:ENST00000257910.8:exon2:c.A180G:p.A60A 12q14.1 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPAN31 76 0 69 4 0.0547945205479452 TRUE TRUE +ENSG00000140015.20 . BCM GRCh38.p13 chr14 62981043 62981043 + A A T Silent SNP ENST00000322893.12 exon6 c.T771A p.I257I exonic ENSG00000140015.20 . synonymous SNV ENSG00000140015.20:ENST00000322893.12:exon6:c.T771A:p.I257I 14q23.2 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH5 231 0 106 14 0.116666666666667 TRUE TRUE +ENSG00000101349.16 . BCM GRCh38.p13 chr20 9557608 9557608 + C C A Silent SNP ENST00000378429.3 exon8 c.G1743T p.R581R exonic ENSG00000101349.16 . synonymous SNV ENSG00000101349.16:ENST00000378429.3:exon8:c.G1743T:p.R581R 20p12.2 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAK5 100 0 56 6 0.0967741935483871 TRUE TRUE +ENSG00000102010.15 . BCM GRCh38.p13 chrX 15522504 15522504 + C C A Silent SNP ENST00000348343.11 exon7 c.C669A p.I223I exonic ENSG00000102010.15 . synonymous SNV ENSG00000102010.15:ENST00000348343.11:exon7:c.C669A:p.I223I Xp22.2 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BMX 359 0 166 15 0.0828729281767956 TRUE TRUE +ENSG00000182872.16 . BCM GRCh38.p13 chrX 47186381 47186381 + T T C Silent SNP ENST00000377604.8 exon23 c.T2661C p.P887P exonic ENSG00000182872.16 . synonymous SNV ENSG00000182872.16:ENST00000377604.8:exon23:c.T2661C:p.P887P Xp11.3 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM10 283 0 504 62 0.109540636042403 TRUE TRUE +ENSG00000231871.5 . BCM GRCh38.p13 chr1 201740062 201740062 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000231871.5 . . . 1q32.1 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IPO9-AS1 41 0 63 4 0.0597014925373134 TRUE NA +ENSG00000213639.10 . BCM GRCh38.p13 chr2 28781912 28781912 + A A G Intron SNP NA NA NA NA intronic ENSG00000213639.10 . . . 2p23.2 C3L-00765 . . . . . . . . . 2.13 D D . . . N . T N . T T . 0.100 0.575 0.288 . . . T T T T -0.060 1.003 0.429 N N -0.965 0.443 -1.045 0.435 0.105 0.476 0.602 0.545 0.492 . 4.350 -0.497 -0.006 0.082 0.681 0.000 0.001 0.002 818 . . . . PPP1CB 148 0 72 5 0.0649350649350649 TRUE NA +ENSG00000251615.3 . BCM GRCh38.p13 chr4 8356894 8356894 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251615.3 . . . 4p16.1 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC104825.1 342 0 219 30 0.120481927710843 TRUE NA +ENSG00000083067.22 . BCM GRCh38.p13 chr9 70784102 70784102 + T T C Intron SNP NA NA NA NA intronic ENSG00000083067.22 . . . 9q21.12 C3L-00765 1.663e-05 0 0 0 0 3.011e-05 0 0 rs770013626 2.4 . . . . . D . . . 0.392 . . . . . . . . . T T . . 1.509 15.800 0.863 D . 0.846 9.745 0.674 7.300 0.077 0.165 0.063 0.183 0.042 0.330 5.610 4.430 1.606 0.200 0.665 1.000 0.996 0.982 . . . . . TRPM3 52 0 50 11 0.180327868852459 TRUE NA +ENSG00000130707.18 . BCM GRCh38.p13 chr9 130452228 130452228 + T T C 5'UTR SNP NA NA NA NA UTR5 ENSG00000130707.18 ENST00000352480.10:c.-1T>C . . 9q34.11 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASS1 453 0 688 81 0.105331599479844 TRUE NA +ENSG00000204740.11 . BCM GRCh38.p13 chr10 19489058 19489058 + C C A Intron SNP NA NA NA NA intronic ENSG00000204740.11 . . . 10p12.31 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALRD1 140 0 228 15 0.0617283950617284 NA TRUE +ENSG00000183020.14 . BCM GRCh38.p13 chr11 981337 981337 + T T C Intron SNP NA NA NA NA intronic ENSG00000183020.14 . . . 11p15.5 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP2A2 114 0 63 7 0.1 TRUE NA +ENSG00000254872.3 . BCM GRCh38.p13 chr11 1101383 1101383 + G G A IGR SNP NA NA NA NA intergenic ENSG00000254872.3;ENSG00000198788.8 dist=45634;dist=1072 . . 11p15.5 C3L-00765 0.0029 0.0355 0.0015 0.0005 0 7.897e-05 0.0012 6.34e-05 rs41426047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02688 175 0 353 54 0.132678132678133 TRUE NA +ENSG00000286759.1 . BCM GRCh38.p13 chr16 81160696 81160696 + T T C IGR SNP NA NA NA NA intergenic ENSG00000286759.1;ENSG00000166473.17 dist=6720;dist=9593 . . 16q23.2 C3L-00765 . . . . . . . . rs1057296165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092718.9 136 0 208 14 0.0630630630630631 TRUE NA +ENSG00000254858.10 . BCM GRCh38.p13 chr19 18196380 18196380 + A A G 3'UTR SNP NA NA NA NA UTR3 ENSG00000254858.10 ENST00000599612.3:c.*325A>G . . 19p13.11 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPV17L2 289 0 431 81 0.158203125 TRUE NA +ENSG00000101407.13 . BCM GRCh38.p13 chr20 37987315 37987315 + A A T Intron SNP NA NA NA NA intronic ENSG00000101407.13 . . . 20q11.23 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTI1 302 0 213 40 0.158102766798419 TRUE NA +ENSG00000167306.20 . BCM GRCh38.p13 chr18 49837765 49837766 + TA TA AT Unknown MNP ENST00000285039.12 exon37 c.4889_4890delinsAT p.L1630H exonic ENSG00000167306.20 . nonframeshift substitution ENSG00000167306.20:ENST00000285039.12:exon37:c.4889_4890delinsAT:p.L1630H 18q21.1 C3L-00765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO5B 322 0 201 33 0.141025641025641 NA TRUE +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32415221 32415221 + A A T Nonsense_Mutation SNP ENST00000421745.6 exon10 c.A1930T p.K644X exonic ENSG00000115760.14 . stopgain ENSG00000115760.14:ENST00000421745.6:exon10:c.A1930T:p.K644X 2p22.3 C3L-00766 . . . . . . . . . 5.6 . . . . D A . . . 0.907 . . . . . . . . . D D . . 6.979 37 0.995 D N 0.905 11.176 0.793 9.927 1.000 0.707 0.654 0.696 0.714 . 5.560 5.560 6.838 1.312 0.756 1.000 1.000 0.998 298 . . . . BIRC6 154 0 109 16 0.128 TRUE TRUE +ENSG00000115661.14 . BCM GRCh38.p13 chr2 219246043 219246043 + T T A Missense_Mutation SNP ENST00000396738.7 exon2 c.T44A p.I15N exonic ENSG00000115661.14 . nonsynonymous SNV ENSG00000115661.14:ENST00000396738.7:exon2:c.T44A:p.I15N 2q35 C3L-00766 . . . . . . . . . 17.20 D D D D D D H T D 0.798 D D D 0.467 0.500 0.984 1.479 T T D D D D 4.373 31 0.994 D D 0.855 9.946 0.841 11.462 1.000 0.543 0.522 0.686 0.562 . 6.170 6.170 7.157 1.138 0.665 1.000 0.998 0.991 520 Protein_kinase_domain . . . STK16 163 0 126 7 0.0526315789473684 TRUE TRUE +ENSG00000122085.17 . BCM GRCh38.p13 chr2 241102258 241102258 + G G T Missense_Mutation SNP ENST00000391980.7 exon1 c.C16A p.R6S exonic ENSG00000122085.17 . nonsynonymous SNV ENSG00000122085.17:ENST00000391980.7:exon1:c.C16A:p.R6S 2q37.3 C3L-00766 . . . . . . . . . 7.18 D D D D U D . T D 0.551 T T T 0.172 0.414 0.302 0.677 . T T T D T 2.568 22.600 0.983 N N -0.382 1.423 -0.637 0.991 1.000 0.442 0.522 0.522 0.562 . 2.330 0.764 0.085 0.015 0.651 0.017 0.006 0.002 988 . . . . MTERF4 253 0 185 19 0.0931372549019608 TRUE NA +ENSG00000041802.11 . BCM GRCh38.p13 chr3 194648699 194648699 + G G T Missense_Mutation SNP ENST00000265245.10 exon11 c.C1525A p.L509M exonic ENSG00000041802.11 . nonsynonymous SNV ENSG00000041802.11:ENST00000265245.10:exon11:c.C1525A:p.L509M 3q29 C3L-00766 . . . . . . . . . 10.20 D D D D D D M T N 0.453 T T T 0.202 0.462 0.225 0.485 T T T T D D 3.147 23.700 0.993 D N 0.126 2.992 0.113 2.790 0.134 0.732 0.725 0.744 0.714 . 5.790 3.940 3.061 0.224 0.676 1.000 0.745 0.805 929 . . . . LSG1 152 0 120 15 0.111111111111111 TRUE TRUE +ENSG00000138642.15 . BCM GRCh38.p13 chr4 88442414 88442414 + T T A Missense_Mutation SNP ENST00000264346.12 exon23 c.T3023A p.I1008N exonic ENSG00000138642.15 . nonsynonymous SNV ENSG00000138642.15:ENST00000264346.12:exon23:c.T3023A:p.I1008N 4q22.1 C3L-00766 . . . . . . . . . 15.20 D D D D D D H T D 0.903 D T D 0.661 0.851 0.925 0.876 T T D D D D 3.675 25.300 0.993 D N 0.736 7.647 0.626 6.565 1.000 0.651 0.709 0.659 0.668 . 4.690 4.690 2.670 1.138 0.609 0.981 0.985 0.958 733 HECT_domain . . . HERC6 233 0 170 23 0.119170984455959 TRUE TRUE +ENSG00000218336.9 . BCM GRCh38.p13 chr4 182789283 182789283 + - NA C Frame_Shift_Ins NA ENST00000511685.6 exon25 c.5496dupC p.Q1833Pfs*6 exonic ENSG00000218336.9 . frameshift insertion ENSG00000218336.9:ENST00000511685.6:exon25:c.5496dupC:p.Q1833Pfs*6 4q35.1 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM3 NA NA NA NA NA NA NA +ENSG00000145685.14 . BCM GRCh38.p13 chr5 78509811 78509813 + CAT CAT - In_Frame_Del DEL ENST00000380345.7 exon4 c.401_403del p.N134_V135delinsI exonic ENSG00000145685.14 . nonframeshift deletion ENSG00000145685.14:ENST00000380345.7:exon4:c.401_403del:p.N134_V135delinsI 5q14.1 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LHFPL2 100 0 93 16 0.146788990825688 TRUE TRUE +ENSG00000145685.14 . BCM GRCh38.p13 chr5 78509820 78509823 + TGCT TGCT - Frame_Shift_Del DEL ENST00000380345.7 exon4 c.391_394del p.I132Sfs*19 exonic ENSG00000145685.14 . frameshift deletion ENSG00000145685.14:ENST00000380345.7:exon4:c.391_394del:p.I132Sfs*19 5q14.1 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LHFPL2 123 0 113 18 0.137404580152672 TRUE TRUE +ENSG00000137267.6 . BCM GRCh38.p13 chr6 3154603 3154603 + A A T Missense_Mutation SNP ENST00000333628.4 exon4 c.T598A p.Y200N exonic ENSG00000137267.6 . nonsynonymous SNV ENSG00000137267.6:ENST00000333628.4:exon4:c.T598A:p.Y200N 6p25.2 C3L-00766 . . . . . . . . . 14.19 . D D D U D M T D 0.857 T T D 0.569 0.400 0.914 . T D D D D D 3.960 26.700 0.964 D D 0.585 5.777 0.600 6.223 1.000 0.706 0.710 0.702 0.714 . 4.970 4.970 9.095 1.302 0.745 1.000 0.474 0.467 773 Tubulin/FtsZ,_GTPase_domain . . . TUBB2A 552 0 507 51 0.0913978494623656 NA TRUE +ENSG00000137414.6 . BCM GRCh38.p13 chr6 17600749 17600749 + T T A Missense_Mutation SNP ENST00000259963.4 exon1 c.T340A p.S114T exonic ENSG00000137414.6 . nonsynonymous SNV ENSG00000137414.6:ENST00000259963.4:exon1:c.T340A:p.S114T 6p22.3 C3L-00766 . . . . . . . . . 6.18 T T D P D N L . N 0.358 T T D 0.242 0.320 0.153 0.630 D . T T D T 2.680 22.800 0.930 D N -0.109 2.145 -0.086 2.087 1.000 0.267 0.484 0.474 0.250 . 3.830 2.600 3.169 0.967 0.511 1.000 1.000 0.947 603 . . . . FAM8A1 452 0 357 31 0.0798969072164948 NA TRUE +ENSG00000278588.2 . BCM GRCh38.p13 chr6 26273080 26273080 + G G T Missense_Mutation SNP ENST00000377733.4 exon1 c.G105T p.K35N exonic ENSG00000278588.2 . nonsynonymous SNV ENSG00000278588.2:ENST00000377733.4:exon1:c.G105T:p.K35N 6p22.2 C3L-00766 . . . . . . . . . 7.14 D T . . . D . T D 0.716 T T T 0.222 0.463 0.871 0.317 D . T T D . 3.007 23.400 0.995 D D 0.273 3.643 0.293 3.678 1.000 0.267 0.484 0.520 0.250 . 4.500 4.500 2.757 0.119 0.596 1.000 0.997 0.970 735 . . . . H2BC10 422 1 403 31 0.0714285714285714 NA TRUE +ENSG00000187955.12 . BCM GRCh38.p13 chr8 120255333 120255333 + G G C Missense_Mutation SNP ENST00000297848.8 exon23 c.G2846C p.R949T exonic ENSG00000187955.12 . nonsynonymous SNV ENSG00000187955.12:ENST00000297848.8:exon23:c.G2846C:p.R949T 8q24.12 C3L-00766 . . . . . . . . . 15.20 D D D D D D M T D 0.908 T T D 0.359 0.718 0.622 0.932 T T D D D D 3.148 23.700 0.984 D D 0.483 4.910 0.414 4.461 1.000 0.693 0.574 0.659 0.613 . 5.490 4.610 7.399 1.176 0.676 1.000 0.281 0.135 686 Fibronectin_type_III . . . COL14A1 156 0 129 12 0.0851063829787234 TRUE TRUE +ENSG00000187954.12 . BCM GRCh38.p13 chr8 144452516 144452516 + A A C Missense_Mutation SNP ENST00000438911.6 exon4 c.T540G p.H180Q exonic ENSG00000187954.12 . nonsynonymous SNV ENSG00000187954.12:ENST00000438911.6:exon4:c.T540G:p.H180Q 8q24.3 C3L-00766 . . . . . . . . . 10.20 D D D D D D M T D 0.668 T T T 0.336 0.358 0.076 0.460 T T T T D D 0.291 4.187 0.970 N N -0.876 0.550 -1.138 0.338 1.000 0.707 0.644 0.725 0.714 . 5.390 -8.460 -1.705 -1.963 -1.248 0.000 0.819 0.150 940 . . . . CYHR1 172 0 144 11 0.0709677419354839 TRUE TRUE +ENSG00000099834.19 . BCM GRCh38.p13 chr11 618108 618108 + C C A Missense_Mutation SNP ENST00000397542.7 exon14 c.G1964T p.G655V exonic ENSG00000099834.19 . nonsynonymous SNV ENSG00000099834.19:ENST00000397542.7:exon14:c.G1964T:p.G655V 11p15.5 C3L-00766 . . . . . . . . . 2.19 T T B B N N . T D 0.592 T T T 0.112 0.096 0.055 0.130 T T T T D T 0.481 6.308 0.932 N N -1.309 0.160 -1.457 0.125 1.000 0.403 0.380 0.578 0.563 . 2.400 -3.510 0.063 -1.055 -0.186 0.000 0.000 0.001 929 . . . . CDHR5 130 0 93 7 0.07 TRUE TRUE +ENSG00000179532.13 . BCM GRCh38.p13 chr11 6557046 6557046 + A A T Missense_Mutation SNP ENST00000254579.11 exon25 c.A7751T p.H2584L exonic ENSG00000179532.13 . nonsynonymous SNV ENSG00000179532.13:ENST00000254579.11:exon25:c.A7751T:p.H2584L 11p15.4 C3L-00766 . . . . . . . . . 2.19 T D P B . N L T D 0.334 T T T 0.107 0.430 0.120 0.392 T T T T T T 0.637 7.863 0.883 N N -0.683 0.842 -0.662 0.955 0.960 0.660 0.694 0.602 0.568 . 5.460 -1.250 -0.062 -0.099 -0.208 0.006 0.996 0.950 464 . . . . DNHD1 166 0 125 8 0.0601503759398496 TRUE TRUE +ENSG00000214891.9 . BCM GRCh38.p13 chr11 49059073 49059073 + T T G Missense_Mutation SNP ENST00000617704.1 exon1 c.A40C p.I14L exonic ENSG00000214891.9 . nonsynonymous SNV ENSG00000214891.9:ENST00000617704.1:exon1:c.A40C:p.I14L 11p11.12 C3L-00766 . . . . . . . . . 0.14 . T . . . N N . . 0.117 T T T 0.056 0.776 0.126 . T T T T T T 0.684 8.306 0.907 N N -0.706 0.803 -0.871 0.660 0.000 0.487 0.574 0.574 0.564 . 1.550 1.550 0.020 0.370 0.479 0.000 0.080 0.023 191 . . . . TRIM64C 277 0 256 20 0.072463768115942 NA TRUE +ENSG00000086205.18 . BCM GRCh38.p13 chr11 49200425 49200425 + - NA T Frame_Shift_Ins NA ENST00000256999.7 exon3 c.240dupA p.P81Tfs*29 exonic ENSG00000086205.18 . frameshift insertion ENSG00000086205.18:ENST00000256999.7:exon3:c.240dupA:p.P81Tfs*29 11p11.12 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOLH1 NA NA NA NA NA NA NA +ENSG00000154133.15 . BCM GRCh38.p13 chr11 124894004 124894004 + C C A Missense_Mutation SNP ENST00000306534.8 exon9 c.G1360T p.G454C exonic ENSG00000154133.15 . nonsynonymous SNV ENSG00000154133.15:ENST00000306534.8:exon9:c.G1360T:p.G454C 11q24.2 C3L-00766 . . . . . . . . . 4.20 D T P P N N M T N 0.221 T T D 0.147 0.371 0.760 0.259 T T T T D T 2.109 20.200 0.988 N N -0.705 0.804 -0.906 0.612 1.000 0.543 0.590 0.547 0.639 . 4.900 -1.980 0.184 0.129 -0.187 0.000 0.003 0.023 715 . . . . ROBO4 35 0 29 6 0.171428571428571 TRUE TRUE +ENSG00000189182.10 . BCM GRCh38.p13 chr12 52703194 52703194 + C C A Missense_Mutation SNP ENST00000341809.8 exon1 c.G241T p.G81C exonic ENSG00000189182.10 . nonsynonymous SNV ENSG00000189182.10:ENST00000341809.8:exon1:c.G241T:p.G81C 12q13.13 C3L-00766 . . . . . . . . . 14.19 D D D D . D M D D 0.563 D D D 0.587 0.388 0.936 0.714 T T D D D T 2.581 22.600 0.995 N N 0.317 3.865 0.149 2.946 0.008 0.497 0.590 0.547 0.613 . 4.650 3.750 0.078 1.026 0.549 0.000 0.910 0.086 670 Keratin_type_II_head . . . KRT77 77 0 77 8 0.0941176470588235 TRUE TRUE +ENSG00000054654.18 . BCM GRCh38.p13 chr14 64146102 64146102 + C C T Missense_Mutation SNP ENST00000344113.8 exon84 c.C15518T p.T5173I exonic ENSG00000054654.18 . nonsynonymous SNV ENSG00000054654.18:ENST00000344113.8:exon84:c.C15518T:p.T5173I 14q23.2 C3L-00766 . . . . . . . . . 9.20 D D D P N D M T D 0.191 T T D 0.091 0.269 0.314 0.057 T T T T D T 2.545 22.500 0.992 D N 0.185 3.240 0.207 3.219 0.999 0.732 0.725 0.744 0.714 . 5.630 4.740 1.555 0.104 0.599 0.853 0.998 0.969 544 . . . . SYNE2 74 0 55 7 0.112903225806452 TRUE TRUE +ENSG00000180269.8 . BCM GRCh38.p13 chr16 20032463 20032463 + T T G Missense_Mutation SNP ENST00000570682.2 exon2 c.A334C p.I112L exonic ENSG00000180269.8 . nonsynonymous SNV ENSG00000180269.8:ENST00000570682.2:exon2:c.A334C:p.I112L 16p12.3 C3L-00766 . . . . . . . . . 8.18 . T D P D D L T . 0.527 T T T 0.208 0.349 0.849 1.160 T T D T D D 3.108 23.600 0.982 D D 0.440 4.603 0.524 5.385 0.999 0.554 0.574 0.618 0.564 . 5.730 5.730 5.951 1.138 0.665 1.000 1.000 1.000 787 GPCR,_rhodopsin-like,_7TM . . . GPR139 121 0 121 12 0.0902255639097744 TRUE TRUE +ENSG00000103335.22 . BCM GRCh38.p13 chr16 88731781 88731781 + A A T Missense_Mutation SNP ENST00000301015.14 exon22 c.T3121A p.Y1041N exonic ENSG00000103335.22 . nonsynonymous SNV ENSG00000103335.22:ENST00000301015.14:exon22:c.T3121A:p.Y1041N 16q24.3 C3L-00766 . . . . . . . . . 16.20 D D D D N D M T D 0.912 D D D 0.807 0.537 0.562 . T T D D D D 4.284 29.400 0.991 D D 0.676 6.799 0.575 5.921 1.000 0.672 0.702 0.723 0.742 . 4.280 4.280 8.724 1.273 0.686 1.000 1.000 0.989 867 . . . . PIEZO1 285 1 222 22 0.0901639344262295 TRUE TRUE +ENSG00000099783.12 . BCM GRCh38.p13 chr19 8488845 8488845 + A A - Frame_Shift_Del DEL ENST00000325495.9 exon16 c.2184delA p.N729Tfs*32 exonic ENSG00000099783.12 . frameshift deletion ENSG00000099783.12:ENST00000325495.9:exon16:c.2184delA:p.N729Tfs*32 19p13.2 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HNRNPM 92 0 56 13 0.188405797101449 TRUE TRUE +ENSG00000198551.10 . BCM GRCh38.p13 chr19 11616955 11616955 + A A G Missense_Mutation SNP ENST00000361113.10 exon4 c.A452G p.H151R exonic ENSG00000198551.10 . nonsynonymous SNV ENSG00000198551.10:ENST00000361113.10:exon4:c.A452G:p.H151R 19p13.2 C3L-00766 . . . . . . . . . 0.19 T T B B . N N T N 0.020 T T T 0.023 0.223 0.110 0.650 T T T T T T -0.627 0.064 0.328 N N -1.551 0.067 -1.661 0.060 0.394 0.707 0.654 0.725 0.674 . 1.360 -2.710 -7.369 -0.347 0.670 0.000 0.009 0.406 798 . . . . ZNF627 206 0 205 11 0.0509259259259259 TRUE NA +ENSG00000159140.21 . BCM GRCh38.p13 chr21 33553598 33553598 + A A G Missense_Mutation SNP ENST00000356577.10 exon3 c.A4367G p.E1456G exonic ENSG00000159140.21 . nonsynonymous SNV ENSG00000159140.21:ENST00000356577.10:exon3:c.A4367G:p.E1456G 21q22.11 C3L-00766 . . . . . . . . . 7.20 D D B B N D L T D 0.161 T T D 0.065 0.366 0.200 0.232 T T T T D T 2.042 19.570 0.998 D N 0.097 2.874 0.143 2.916 1.000 0.646 0.696 0.702 0.742 . 5.430 4.250 0.971 1.312 0.756 0.940 0.124 0.841 870 . . . . SON 141 0 93 8 0.0792079207920792 TRUE TRUE +ENSG00000234469.4 . BCM GRCh38.p13 chrX 9967707 9967707 + G G C Missense_Mutation SNP ENST00000445307.4 exon1 c.G350C p.R117T exonic ENSG00000234469.4 . nonsynonymous SNV ENSG00000234469.4:ENST00000445307.4:exon1:c.G350C:p.R117T Xp22.2 C3L-00766 . . . . . . . . . 0.10 . T . . . . . . . 0.153 T T . 0.055 . 0.115 . T T T T T T 0.245 3.646 0.244 N . . . . . 0.995 . . . . . 3.790 1.930 1.080 -0.019 -0.212 0.196 0.001 0.001 949 . . . . CLDN34 199 0 142 9 0.0596026490066225 TRUE TRUE +ENSG00000124313.16 . BCM GRCh38.p13 chrX 53250939 53250939 + C C G Missense_Mutation SNP ENST00000642864.1 exon5 c.G1637C p.W546S exonic ENSG00000124313.16 . nonsynonymous SNV ENSG00000124313.16:ENST00000642864.1:exon5:c.G1637C:p.W546S Xp11.22 C3L-00766 . . . . . . . . . 7.17 D D B B N D . T D 0.595 T T D 0.167 0.250 0.434 1.700 T . T T D T 2.721 22.900 0.977 D . . . . . 1.000 . . . . . 5.370 5.370 2.795 0.947 0.597 1.000 0.996 0.986 49 . . . . IQSEC2 114 0 107 9 0.0775862068965517 TRUE TRUE +ENSG00000171729.14 . BCM GRCh38.p13 chr1 15219641 15219641 + C C G Silent SNP ENST00000376008.3 exon4 c.C660G p.L220L exonic ENSG00000171729.14 . synonymous SNV ENSG00000171729.14:ENST00000376008.3:exon4:c.C660G:p.L220L 1p36.21 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM51 241 0 189 20 0.0956937799043062 TRUE TRUE +ENSG00000121594.12 . BCM GRCh38.p13 chr3 119537357 119537357 + T T A Silent SNP ENST00000264246.8 exon4 c.A480T p.I160I exonic ENSG00000121594.12 . synonymous SNV ENSG00000121594.12:ENST00000264246.8:exon4:c.A480T:p.I160I 3q13.33 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD80 199 0 154 11 0.0666666666666667 TRUE TRUE +ENSG00000148411.8 . BCM GRCh38.p13 chr9 136049838 136049838 + G G A Silent SNP ENST00000277554.4 exon2 c.C684T p.S228S exonic ENSG00000148411.8 . synonymous SNV ENSG00000148411.8:ENST00000277554.4:exon2:c.C684T:p.S228S 9q34.3 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NACC2 61 0 48 7 0.127272727272727 TRUE TRUE +ENSG00000174483.20 . BCM GRCh38.p13 chr11 66514414 66514414 + A A C Silent SNP ENST00000318312.12 exon4 c.A168C p.V56V exonic ENSG00000174483.20;ENSG00000256349.1 . synonymous SNV ENSG00000174483.20:ENST00000318312.12:exon4:c.A168C:p.V56V,ENSG00000256349.1:ENST00000419755.3:exon4:c.A279C:p.V93V 11q13.2 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BBS1 257 0 206 24 0.104347826086957 TRUE TRUE +ENSG00000111254.8 . BCM GRCh38.p13 chr12 4626994 4626994 + A A G Silent SNP ENST00000228850.6 exon5 c.T1908C p.S636S exonic ENSG00000111254.8 . synonymous SNV ENSG00000111254.8:ENST00000228850.6:exon5:c.T1908C:p.S636S 12p13.32 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AKAP3 99 0 78 5 0.0602409638554217 TRUE TRUE +ENSG00000100596.6 . BCM GRCh38.p13 chr14 77557106 77557106 + A A C Silent SNP ENST00000216484.6 exon7 c.T891G p.V297V exonic ENSG00000100596.6 . synonymous SNV ENSG00000100596.6:ENST00000216484.6:exon7:c.T891G:p.V297V 14q24.3 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPTLC2 207 0 178 21 0.105527638190955 TRUE TRUE +ENSG00000183655.13 . BCM GRCh38.p13 chr15 85768245 85768245 + C C A Silent SNP ENST00000337975.6 exon2 c.G1566T p.G522G exonic ENSG00000183655.13 . synonymous SNV ENSG00000183655.13:ENST00000337975.6:exon2:c.G1566T:p.G522G 15q25.3 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL25 115 0 105 11 0.0948275862068965 TRUE TRUE +ENSG00000167733.13 . BCM GRCh38.p13 chr19 5685086 5685086 + G G A Silent SNP ENST00000423665.6 exon3 c.G171A p.V57V exonic ENSG00000167733.13 . synonymous SNV ENSG00000167733.13:ENST00000423665.6:exon3:c.G171A:p.V57V 19p13.3 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HSD11B1L 228 0 177 16 0.0829015544041451 TRUE TRUE +ENSG00000221837.6 . BCM GRCh38.p13 chr21 44627378 44627378 + A A T Silent SNP ENST00000397911.5 exon1 c.A207T p.S69S exonic ENSG00000221837.6 . synonymous SNV ENSG00000221837.6:ENST00000397911.5:exon1:c.A207T:p.S69S 21q22.3 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRTAP10-9 677 0 500 63 0.11190053285968 NA TRUE +ENSG00000232682.2 . BCM GRCh38.p13 chr10 60059970 60059970 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000232682.2 . . . 10q21.2 C3L-00766 . . . . . . . . . 6.14 D D . . . D . T N 0.363 T T T 0.032 0.322 0.610 . . . T T T D 1.694 16.990 0.970 D D -0.102 2.169 0.076 2.639 0.017 0.706 0.574 0.710 0.655 . 5.770 3.780 5.104 0.245 0.676 1.000 1.000 1.000 687 . . . . AL592430.2 57 0 55 5 0.0833333333333333 TRUE TRUE +ENSG00000159461.15 . BCM GRCh38.p13 chr16 56362300 56362300 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000159461.15 ENST00000290649.10:c.*609T>A . . 16q13 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMFR 194 0 157 14 0.0818713450292398 TRUE NA +ENSG00000197122.11 . BCM GRCh38.p13 chr20 37386459 37386459 + G G T Intron SNP NA NA NA NA intronic ENSG00000197122.11 . . . 20q11.23 C3L-00766 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 3.638 25.200 0.993 D . 0.284 3.696 0.322 3.845 1.000 0.099 0.078 0.072 0.118 0.955 3.900 3.900 5.727 1.176 0.676 1.000 1.000 0.998 794 . . . . SRC 355 0 284 16 0.0533333333333333 TRUE NA +ENSG00000183597.16 . BCM GRCh38.p13 chr22 20056653 20056653 + G G A Intron SNP NA NA NA NA intronic ENSG00000183597.16 . . . 22q11.21 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TANGO2 168 0 127 15 0.105633802816901 TRUE NA +ENSG00000110057.8 . BCM GRCh38.p13 chr11 67997764 67997765 + TG TG AT Unknown MNP ENST00000227471.7 exon7 c.816_817delinsAT p.N272_Q597delinsK exonic ENSG00000110057.8 . stopgain ENSG00000110057.8:ENST00000227471.7:exon7:c.816_817delinsAT:p.N272_Q597delinsK 11q13.2 C3L-00766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC93B1 343 0 269 27 0.0912162162162162 TRUE NA +ENSG00000116350.17 . BCM GRCh38.p13 chr1 29148912 29148912 + C C A Missense_Mutation SNP ENST00000373795.7 exon6 c.G983T p.R328L exonic ENSG00000116350.17 . nonsynonymous SNV ENSG00000116350.17:ENST00000373795.7:exon6:c.G983T:p.R328L 1p35.3 C3L-00790 . . . . . . . . . 0.20 T T B B N N N T N 0.061 T T T 0.017 0.311 0.043 0.279 T T T T T T 0.143 2.507 0.927 N N -1.119 0.290 -1.081 0.396 0.949 0.707 0.702 0.702 0.714 . 5.540 -2.080 0.107 -0.735 -0.136 0.344 0.302 0.950 606 . . . . SRSF4 148 0 198 22 0.1 TRUE NA +ENSG00000184313.20 . BCM GRCh38.p13 chr1 54653332 54653332 + G G A Missense_Mutation SNP ENST00000414150.6 exon3 c.G406A p.A136T exonic ENSG00000184313.20;ENSG00000271723.5 . nonsynonymous SNV ENSG00000271723.5:ENST00000414150.6:exon3:c.G406A:p.A136T,ENSG00000184313.20:ENST00000421030.7:exon3:c.G406A:p.A136T 1p32.3 C3L-00790 . . . . . . . . . 1.20 T D B B N N L T N 0.049 T T T 0.096 0.052 0.014 0.072 T T T T T T 0.388 5.290 0.857 N N -1.142 0.270 -1.202 0.281 0.998 0.554 0.590 0.547 0.621 . 3.450 0.417 -0.025 0.196 -0.148 0.000 0.002 0.005 785 . . . . MROH7 160 0 147 27 0.155172413793103 TRUE TRUE +ENSG00000162402.14 . BCM GRCh38.p13 chr1 55104000 55104000 + C C A Missense_Mutation SNP ENST00000294383.7 exon42 c.G4901T p.R1634L exonic ENSG00000162402.14 . nonsynonymous SNV ENSG00000162402.14:ENST00000294383.7:exon42:c.G4901T:p.R1634L 1p32.3 C3L-00790 . . . . . . . . . 11.18 T D . . D D L T D 0.973 T T D 0.545 . 0.823 1.126 T T D D D D 4.131 28.000 0.983 D D 0.569 5.623 0.669 7.215 1.000 0.707 0.725 0.725 0.714 . 6.050 6.050 7.488 0.947 0.599 1.000 0.997 0.988 912 . . . . USP24 135 0 59 5 0.078125 TRUE TRUE +ENSG00000143434.15 . BCM GRCh38.p13 chr1 151135212 151135212 + T T C Missense_Mutation SNP ENST00000368913.7 exon15 c.A1531G p.I511V exonic ENSG00000143434.15 . nonsynonymous SNV ENSG00000143434.15:ENST00000368913.7:exon15:c.A1531G:p.I511V 1q21.3 C3L-00790 . . . . . . . . . 2.20 T T B B D D N T N 0.173 T T T 0.077 0.439 0.227 0.387 T T T T T T 0.694 8.404 0.784 N N -0.828 0.615 -0.593 1.057 0.152 0.719 0.588 0.723 0.714 . 4.820 3.680 0.139 1.138 0.665 0.037 0.997 0.995 158 Sema_domain . . . SEMA6C 181 0 197 24 0.108597285067873 TRUE TRUE +ENSG00000066294.15 . BCM GRCh38.p13 chr1 160565650 160565650 + G G A Nonsense_Mutation SNP ENST00000311224.8 exon2 c.C142T p.Q48X exonic ENSG00000066294.15 . stopgain ENSG00000066294.15:ENST00000311224.8:exon2:c.C142T:p.Q48X 1q23.3 C3L-00790 . . . . . . . . . 1.6 . . . . N A . . . 0.860 . . . . . . . . . T T . . 5.489 34 0.981 N N -0.461 1.255 -0.877 0.652 1.000 0.732 0.744 0.574 0.564 . 5.110 -6.370 -0.278 -0.714 -0.241 0.001 0.000 0.004 818 Immunoglobulin_subtype . . . CD84 200 0 94 10 0.0961538461538462 TRUE TRUE +ENSG00000144445.17 . BCM GRCh38.p13 chr2 210104130 210104130 + A A C Missense_Mutation SNP ENST00000281772.14 exon4 c.T1402G p.L468V exonic ENSG00000144445.17 . nonsynonymous SNV ENSG00000144445.17:ENST00000281772.14:exon4:c.T1402G:p.L468V 2q34 C3L-00790 . . . . . . . . . 8.19 D D D D N N M . N 0.618 T T T 0.122 0.180 0.188 0.347 T T T T D D 3.161 23.800 0.998 D N 0.282 3.689 0.216 3.261 0.000 0.693 0.588 0.659 0.655 . 5.250 1.160 2.026 0.046 0.691 0.992 0.996 1.000 727 . . . . KANSL1L 256 0 115 15 0.115384615384615 TRUE TRUE +ENSG00000081052.13 . BCM GRCh38.p13 chr2 227007369 227007369 + G G A Missense_Mutation SNP ENST00000396625.5 exon48 c.C5029T p.R1677C exonic ENSG00000081052.13 . nonsynonymous SNV ENSG00000081052.13:ENST00000396625.5:exon48:c.C5029T:p.R1677C 2q36.3 C3L-00790 6.624e-05 0 0.0004 0 0.0002 1.498e-05 0 6.056e-05 rs759631057 18.19 D D D D . D H D D 0.476 D D D 0.760 0.564 0.972 0.193 T D D D D D 4.367 31 0.998 D D 0.889 10.766 0.845 11.576 1.000 0.615 0.634 0.668 0.564 . 5.890 5.890 3.751 1.176 0.676 1.000 1.000 0.998 931 Collagen_IV,_non-collagenous . . ID=COSV61629349;OCCURENCE=1(oesophagus),1(large_intestine),5(central_nervous_system),1(stomach) COL4A4 529 2 490 52 0.0959409594095941 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142147 10142147 + G G - Frame_Shift_Del NA ENST00000256474.3 exon1 c.300delG p.L101Cfs*58 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.300delG:p.L101Cfs*58 3p25.3 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 409 0 394 61 0.134065934065934 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47086302 47086302 + G G A Nonsense_Mutation SNP ENST00000409792.3 exon11 c.C5290T p.Q1764X exonic ENSG00000181555.20 . stopgain ENSG00000181555.20:ENST00000409792.3:exon11:c.C5290T:p.Q1764X 3p21.31 C3L-00790 . . . . . . . . . 5.6 . . . . D A . . . 0.968 . . . . . . . . . D D . . 7.915 40 0.998 D N 1.067 16.192 0.920 14.624 1.000 0.707 0.725 0.725 0.714 . 5.470 5.470 3.875 1.176 0.676 1.000 0.997 0.989 15 . . . . SETD2 194 0 101 12 0.106194690265487 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52634652 52634652 + G G C Nonsense_Mutation SNP ENST00000296302.11 exon11 c.C1251G p.Y417X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon11:c.C1251G:p.Y417X 3p21.1 C3L-00790 . . . . . . . . . 5.6 . . . . D A . . . 0.888 . . . . . . . . . D D . . 5.930 35 0.996 D N 0.393 4.303 0.200 3.181 0.002 0.707 0.725 0.725 0.714 . 5.590 -0.243 0.332 0.198 0.618 0.990 1.000 0.999 29 Bromodomain,_conserved_site;Bromodomain . . . PBRM1 224 0 84 21 0.2 TRUE TRUE +ENSG00000178988.11 . BCM GRCh38.p13 chr4 6709443 6709443 + T T C Missense_Mutation SNP ENST00000320848.7 exon1 c.A187G p.M63V exonic ENSG00000178988.11 . nonsynonymous SNV ENSG00000178988.11:ENST00000320848.7:exon1:c.A187G:p.M63V 4p16.1 C3L-00790 8.237e-06 9.61e-05 0 0 0 0 0 0 rs754524317 2.19 D D B B U N L . N 0.332 T T T 0.086 0.504 0.055 0.283 T T T T T T 1.772 17.530 0.542 N N -1.019 0.384 -0.995 0.495 1.000 0.628 0.522 0.672 0.562 . 2.570 -1.550 0.172 0.994 0.492 1.000 0.950 0.305 976 . . . . MRFAP1L1 317 0 334 55 0.141388174807198 TRUE NA +ENSG00000145850.9 . BCM GRCh38.p13 chr5 156922126 156922126 + C C T Missense_Mutation SNP ENST00000274532.7 exon7 c.G985A p.A329T exonic ENSG00000145850.9 . nonsynonymous SNV ENSG00000145850.9:ENST00000274532.7:exon7:c.G985A:p.A329T 5q33.3 C3L-00790 . . . . . . . . . 3.20 D D D P N N L T N 0.357 T T T 0.212 0.347 0.523 0.056 T T T T T T 1.521 15.870 0.995 N N -0.467 1.241 -0.619 1.018 1.000 0.628 0.672 0.547 0.564 . 5.310 1.010 0.317 0.980 0.599 0.000 0.018 0.008 520 . . . ID=COSV50857541;OCCURENCE=1(central_nervous_system) TIMD4 178 2 130 16 0.10958904109589 TRUE NA +ENSG00000042980.13 . BCM GRCh38.p13 chr8 24300063 24300063 + G G - Frame_Shift_Del NA ENST00000265769.9 exon2 c.136delG p.E46Sfs*12 exonic ENSG00000042980.13 . frameshift deletion ENSG00000042980.13:ENST00000265769.9:exon2:c.136delG:p.E46Sfs*12 8p21.2 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAM28 183 0 51 6 0.105263157894737 TRUE TRUE +ENSG00000183808.11 . BCM GRCh38.p13 chr8 93734747 93734747 + G G C Missense_Mutation SNP ENST00000399300.6 exon3 c.C1664G p.P555R exonic ENSG00000183808.11 . nonsynonymous SNV ENSG00000183808.11:ENST00000399300.6:exon3:c.C1664G:p.P555R 8q22.1 C3L-00790 . . . . . . . . . 5.20 D D P B D N L T N 0.561 T T T 0.185 0.202 0.384 . T T T T D T 2.602 22.600 0.934 D N -0.213 1.839 -0.194 1.799 1.000 0.632 0.698 0.607 0.636 . 5.730 3.950 1.448 0.120 -0.106 0.839 0.201 0.465 478 . . . . RBM12B 114 0 165 20 0.108108108108108 TRUE TRUE +ENSG00000196597.13 . BCM GRCh38.p13 chr9 96819525 96819525 + A A C Missense_Mutation SNP ENST00000481138.6 exon6 c.T498G p.N166K exonic ENSG00000196597.13 . nonsynonymous SNV ENSG00000196597.13:ENST00000481138.6:exon6:c.T498G:p.N166K 9q22.33 C3L-00790 . . . . . . . . . 4.19 D D P B . N M T D 0.216 T T T 0.019 0.443 0.305 0.134 T T T T T T 0.755 8.958 0.863 N N -0.709 0.798 -0.850 0.689 0.002 0.651 0.709 0.659 0.492 . 3.380 1.050 0.086 0.176 -0.051 0.000 0.433 0.039 757 . . . . ZNF782 112 0 116 7 0.0569105691056911 TRUE TRUE +ENSG00000150594.7 . BCM GRCh38.p13 chr10 111079275 111079275 + T T C Missense_Mutation SNP ENST00000280155.4 exon1 c.T1279C p.F427L exonic ENSG00000150594.7 . nonsynonymous SNV ENSG00000150594.7:ENST00000280155.4:exon1:c.T1279C:p.F427L 10q25.2 C3L-00790 . . . . . . . . . 9.15 D D . . U D . T D 0.644 T T D 0.309 . 0.570 . D . T T D . 4.387 31 0.998 D D 0.455 4.702 0.423 4.524 1.000 0.610 0.563 0.494 0.639 . 3.820 3.820 5.960 1.055 0.665 1.000 1.000 0.997 887 . . . . ADRA2A 413 0 429 46 0.0968421052631579 TRUE TRUE +ENSG00000100813.14 . BCM GRCh38.p13 chr14 23069540 23069540 + A A G Missense_Mutation SNP ENST00000262710.5 exon9 c.T2375C p.I792T exonic ENSG00000100813.14 . nonsynonymous SNV ENSG00000100813.14:ENST00000262710.5:exon9:c.T2375C:p.I792T 14q11.2 C3L-00790 . . . . . . . . . 0.20 T T B B N N N T N 0.217 T T T 0.075 0.294 0.206 0.035 T T T T T T 1.584 16.270 0.798 N N -0.583 1.019 -0.456 1.275 1.000 0.742 0.672 0.775 0.592 . 6.060 2.490 0.627 1.312 0.756 0.065 0.988 0.997 815 . . . . ACIN1 156 0 102 11 0.0973451327433628 TRUE NA +ENSG00000188322.7 . BCM GRCh38.p13 chr16 28320559 28320559 + C C T Missense_Mutation SNP ENST00000341901.5 exon4 c.C913T p.P305S exonic ENSG00000188322.7 . nonsynonymous SNV ENSG00000188322.7:ENST00000341901.5:exon4:c.C913T:p.P305S 16p12.1 C3L-00790 . . . . . . . . . 7.20 T T B B D D N T N 0.360 T T D 0.097 0.409 0.287 . D T T T D D 2.055 19.680 0.990 D N -0.453 1.270 -0.241 1.690 0.908 0.696 0.547 0.723 0.613 . 3.980 3.980 1.974 0.847 0.487 0.919 0.939 0.966 830 Protein_kinase_domain . . . SBK1 66 0 92 16 0.148148148148148 TRUE TRUE +ENSG00000135740.17 . BCM GRCh38.p13 chr16 67259870 67259870 + T T C Missense_Mutation SNP ENST00000299798.16 exon12 c.T1766C p.V589A exonic ENSG00000135740.17 . nonsynonymous SNV ENSG00000135740.17:ENST00000299798.16:exon12:c.T1766C:p.V589A 16q22.1 C3L-00790 . . . . . . . . . 8.20 T D D P D D L T N 0.599 T T D 0.168 0.398 0.723 1.607 T T T T D D 2.896 23.200 0.997 D N 0.515 5.155 0.532 5.460 1.000 0.626 0.588 0.805 0.655 . 5.640 5.640 4.342 1.138 0.665 1.000 0.995 0.995 23 . . . . SLC9A5 194 0 256 67 0.207430340557276 TRUE TRUE +ENSG00000108510.10 . BCM GRCh38.p13 chr17 61995354 61995354 + T T A Missense_Mutation SNP ENST00000397786.7 exon10 c.A1979T p.Q660L exonic ENSG00000108510.10 . nonsynonymous SNV ENSG00000108510.10:ENST00000397786.7:exon10:c.A1979T:p.Q660L 17q23.2 C3L-00790 . . . . . . . . . 9.20 D D B B D D L T D 0.333 T T D 0.304 0.334 0.238 0.179 T T T T D D 2.826 23.100 0.964 D N -0.361 1.469 -0.252 1.666 0.002 0.732 0.744 0.464 0.714 . 5.300 4.220 3.977 0.195 -0.133 1.000 0.999 0.996 199 . . . . MED13 126 0 56 8 0.125 TRUE TRUE +ENSG00000177426.21 . BCM GRCh38.p13 chr18 3452355 3452355 + C C T Missense_Mutation SNP ENST00000330513.9 exon1 c.C376T p.R126W exonic ENSG00000177426.21 . nonsynonymous SNV ENSG00000177426.21:ENST00000330513.9:exon1:c.C376T:p.R126W 18p11.31 C3L-00790 . . . . . . . . . 3.20 D D D B N N N T N 0.138 T T T 0.094 0.359 0.641 0.451 T T T T T T 2.054 19.670 0.996 N N -0.471 1.233 -0.617 1.021 1.000 0.442 0.492 0.522 0.250 . 4.140 2.320 0.192 -0.254 0.596 0.000 0.002 0.125 910 . . . ID=COSV57907159;OCCURENCE=1(urinary_tract) TGIF1 440 0 445 50 0.101010101010101 TRUE TRUE +ENSG00000152217.19 . BCM GRCh38.p13 chr18 44951751 44951751 + C C A Missense_Mutation SNP ENST00000649279.2 exon4 c.C2411A p.T804N exonic ENSG00000152217.19 . nonsynonymous SNV ENSG00000152217.19:ENST00000649279.2:exon4:c.C2411A:p.T804N 18q12.3 C3L-00790 . . . . . . . . . 16.20 D D D D D D L D N 0.914 D D D 0.372 0.069 0.483 0.978 T T D D D D 3.456 24.600 0.989 D D 0.717 7.366 0.794 9.937 1.000 0.719 0.723 0.659 0.621 . 6.170 6.170 7.879 1.026 0.599 1.000 1.000 1.000 893 . . . . SETBP1 783 0 634 73 0.103253182461103 TRUE TRUE +ENSG00000081138.14 . BCM GRCh38.p13 chr18 65880879 65880879 + G G T Missense_Mutation SNP ENST00000397968.4 exon12 c.G2343T p.E781D exonic ENSG00000081138.14 . nonsynonymous SNV ENSG00000081138.14:ENST00000397968.4:exon12:c.G2343T:p.E781D 18q22.1 C3L-00790 . . . . . . . . . 1.20 T T B B N N N T N 0.125 T T T 0.087 0.176 0.368 0.319 T T T T T T 1.532 15.940 0.985 D N -0.549 1.082 -0.318 1.528 0.000 0.487 0.574 0.574 0.564 . 5.330 2.160 0.369 1.172 0.671 0.997 1.000 0.999 987 . . . . CDH7 114 0 80 7 0.0804597701149425 TRUE TRUE +ENSG00000101470.10 . BCM GRCh38.p13 chr20 45824016 45824016 + G G T Missense_Mutation SNP ENST00000372555.8 exon5 c.C426A p.N142K exonic ENSG00000101470.10 . nonsynonymous SNV ENSG00000101470.10:ENST00000372555.8:exon5:c.C426A:p.N142K 20q13.12 C3L-00790 . . . . . . . . . 17.20 D D D P D D M T D 0.877 D D D 0.670 0.667 0.495 2.067 D D D T D D 3.512 24.700 0.998 D D 0.443 4.620 0.341 3.962 1.000 0.726 0.541 0.594 0.555 . 3.950 3.950 4.133 1.176 0.618 1.000 1.000 0.994 819 EF-hand_domain;EF-Hand_1,_calcium-binding_site . . . TNNC2 143 0 162 58 0.263636363636364 TRUE TRUE +ENSG00000196468.8 . BCM GRCh38.p13 chrX 77456488 77456488 + C C A Missense_Mutation SNP ENST00000439435.3 exon3 c.C590A p.P197H exonic ENSG00000196468.8 . nonsynonymous SNV ENSG00000196468.8:ENST00000439435.3:exon3:c.C590A:p.P197H Xq21.1 C3L-00790 . . . . . . . . . 8.10 . D D D . . . . . 0.639 . . . . . 0.209 . T D D D D T 3.082 23.600 0.993 D . . . . . 1.000 . . . . . 5.160 5.160 7.483 1.026 0.599 1.000 1.000 0.941 57 . . . . FGF16 121 0 61 38 0.383838383838384 TRUE TRUE +ENSG00000198157.11 . BCM GRCh38.p13 chrX 81114913 81114913 + A A T Missense_Mutation SNP ENST00000358130.7 exon7 c.T585A p.D195E exonic ENSG00000198157.11 . nonsynonymous SNV ENSG00000198157.11:ENST00000358130.7:exon7:c.T585A:p.D195E Xq21.1 C3L-00790 . . . . . . . . . 0.17 T T B B . N N . N 0.096 T T T 0.029 0.228 0.552 0.019 T T T T T T 0.135 2.418 0.134 N . . . . . 0.350 . . . . . 3.520 -7.040 -0.414 -0.211 0.691 0.000 0.002 0.130 719 . . . . HMGN5 126 0 62 5 0.0746268656716418 NA TRUE +ENSG00000174332.5 . BCM GRCh38.p13 chr1 53529866 53529866 + G G A Silent SNP ENST00000312233.4 exon4 c.C882T p.C294C exonic ENSG00000174332.5 . synonymous SNV ENSG00000174332.5:ENST00000312233.4:exon4:c.C882T:p.C294C 1p32.3 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLIS1 280 0 284 36 0.1125 TRUE TRUE +ENSG00000132704.16 . BCM GRCh38.p13 chr1 157767277 157767277 + G G A Silent SNP ENST00000361516.8 exon6 c.C1116T p.N372N exonic ENSG00000132704.16 . synonymous SNV ENSG00000132704.16:ENST00000361516.8:exon6:c.C1116T:p.N372N 1q23.1 C3L-00790 6.637e-05 9.821e-05 0.0002 0 0 6.034e-05 0 6.122e-05 rs147916987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63833006;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(lung) FCRL2 126 0 140 24 0.146341463414634 TRUE TRUE +ENSG00000162769.13 . BCM GRCh38.p13 chr1 212885349 212885349 + G G T Silent SNP ENST00000366971.9 exon5 c.G1149T p.V383V exonic ENSG00000162769.13 . synonymous SNV ENSG00000162769.13:ENST00000366971.9:exon5:c.G1149T:p.V383V 1q32.3 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLVCR1 397 1 195 26 0.117647058823529 TRUE TRUE +ENSG00000171863.15 . BCM GRCh38.p13 chr2 3576618 3576618 + C C A Silent SNP ENST00000645674.2 exon4 c.C279A p.V93V exonic ENSG00000171863.15 . synonymous SNV ENSG00000171863.15:ENST00000645674.2:exon4:c.C279A:p.V93V 2p25.3 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPS7 658 0 335 85 0.202380952380952 TRUE TRUE +ENSG00000114541.15 . BCM GRCh38.p13 chr3 69182612 69182612 + G G A Silent SNP ENST00000398540.8 exon20 c.C2025T p.S675S exonic ENSG00000114541.15 . synonymous SNV ENSG00000114541.15:ENST00000398540.8:exon20:c.C2025T:p.S675S 3p14.1 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRMD4B 122 0 149 22 0.128654970760234 TRUE TRUE +ENSG00000214253.9 . BCM GRCh38.p13 chr7 101239872 101239872 + G G T Silent SNP ENST00000223136.5 exon5 c.C393A p.G131G exonic ENSG00000214253.9 . synonymous SNV ENSG00000214253.9:ENST00000223136.5:exon5:c.C393A:p.G131G 7q22.1 C3L-00790 . . . . . . . . . 3.10 . . . . . D . . D . T T . 0.127 0.121 0.757 . . . T T T T 0.702 8.474 0.893 D N -0.070 2.270 -0.096 2.058 0.984 0.722 0.702 0.571 0.735 . 4.400 0.165 0.218 1.172 0.672 0.997 0.997 0.996 883 . . . . FIS1 201 0 229 61 0.210344827586207 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112295834 112295834 + C C T Silent SNP ENST00000297405.10 exon54 c.G8613A p.V2871V exonic ENSG00000164796.18 . synonymous SNV ENSG00000164796.18:ENST00000297405.10:exon54:c.G8613A:p.V2871V 8q23.3 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSMD3 440 0 214 32 0.130081300813008 TRUE TRUE +ENSG00000149090.11 . BCM GRCh38.p13 chr11 35470653 35470653 + G G A Silent SNP ENST00000619888.4 exon5 c.C660T p.S220S exonic ENSG00000149090.11 . synonymous SNV ENSG00000149090.11:ENST00000619888.4:exon5:c.C660T:p.S220S 11p13 C3L-00790 0.0005 9.612e-05 0.0003 0 0 0.0008 0.0022 6.056e-05 rs141244308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53517489;OCCURENCE=1(skin) PAMR1 402 0 385 49 0.112903225806452 TRUE TRUE +ENSG00000161638.11 . BCM GRCh38.p13 chr12 54399654 54399654 + A A T Silent SNP ENST00000293379.9 exon27 c.T2832A p.T944T exonic ENSG00000161638.11 . synonymous SNV ENSG00000161638.11:ENST00000293379.9:exon27:c.T2832A:p.T944T 12q13.13 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA5 284 0 285 31 0.0981012658227848 NA TRUE +ENSG00000111490.15 . BCM GRCh38.p13 chr12 64875722 64875722 + C C T Silent SNP ENST00000542120.6 exon13 c.C2709T p.H903H exonic ENSG00000111490.15;ENSG00000288591.1 . synonymous SNV ENSG00000111490.15:ENST00000542120.6:exon13:c.C2709T:p.H903H,ENSG00000288591.1:ENST00000674281.1:exon14:c.C1878T:p.H626H 12q14.3 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D30 194 0 191 21 0.0990566037735849 TRUE TRUE +ENSG00000135679.25 . BCM GRCh38.p13 chr12 68839357 68839357 + T T C Silent SNP ENST00000539479.6 exon11 c.T984C p.N328N exonic ENSG00000135679.25 . synonymous SNV ENSG00000135679.25:ENST00000539479.6:exon11:c.T984C:p.N328N 12q15 C3L-00790 0.0002 0.0010 8.645e-05 0.0013 0 1.501e-05 0 6.059e-05 rs199812774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MDM2 242 0 122 48 0.282352941176471 TRUE NA +ENSG00000101470.10 . BCM GRCh38.p13 chr20 45824007 45824007 + G G T Silent SNP ENST00000372555.8 exon5 c.C435A p.G145G exonic ENSG00000101470.10 . synonymous SNV ENSG00000101470.10:ENST00000372555.8:exon5:c.C435A:p.G145G 20q13.12 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNNC2 124 0 153 52 0.253658536585366 TRUE TRUE +ENSG00000199035.2 . BCM GRCh38.p13 chr5 168560909 168560909 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199035.2;ENSG00000283612.1 . . . 5q34 C3L-00790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR103A1 138 0 67 17 0.202380952380952 TRUE NA +ENSG00000186827.11 . BCM GRCh38.p13 chr1 1213030 1213030 + G G A Missense_Mutation SNP ENST00000379236.4 exon3 c.C332T p.A111V exonic ENSG00000186827.11 . nonsynonymous SNV ENSG00000186827.11:ENST00000379236.4:exon3:c.C332T:p.A111V 1p36.33 C3L-00791 2.785e-05 0 0 0 0 5.081e-05 0 0 rs777266991 2.20 D T B B N N N T N 0.215 T T D 0.062 0.220 0.490 0.163 T T T T T T 2.229 21.100 0.996 N N -0.305 1.602 -0.309 1.545 1.000 0.581 0.484 0.578 0.605 . 3.690 3.690 0.407 1.162 0.597 0.000 0.004 0.060 789 Tumour_necrosis_factor_receptor_4,_N-terminal . . . TNFRSF4 156 1 79 44 0.357723577235772 TRUE NA +ENSG00000162493.16 . BCM GRCh38.p13 chr1 13614341 13614341 + G G T Missense_Mutation SNP ENST00000621990.4 exon5 c.G412T p.V138F exonic ENSG00000162493.16 . nonsynonymous SNV ENSG00000162493.16:ENST00000621990.4:exon5:c.G412T:p.V138F 1p36.21 C3L-00791 . . . . . . . . . 11.20 D D D D N D L T D 0.658 T T D 0.296 0.803 0.841 0.519 T T D T D D 3.534 24.800 0.995 D N 0.552 5.470 0.515 5.297 0.001 0.707 0.574 0.725 0.564 . 5.930 3.870 1.563 1.151 0.676 0.957 0.997 0.991 982 . . . ID=COSV53849414;OCCURENCE=1(lung) PDPN 161 0 117 41 0.259493670886076 TRUE TRUE +ENSG00000121766.15 . BCM GRCh38.p13 chr1 31339048 31339051 + AGTA AGTA - Frame_Shift_Del DEL ENST00000373714.5 exon5 c.317delA p.E106Gfs*24 exonic ENSG00000121766.15 . frameshift deletion ENSG00000121766.15:ENST00000373714.5:exon5:c.317delA:p.E106Gfs*24 1p35.2 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZCCHC17 95 0 58 32 0.355555555555556 TRUE TRUE +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39432545 39432545 + C C T Missense_Mutation SNP ENST00000372915.7 exon65 c.C17036T p.A5679V exonic ENSG00000127603.29 . nonsynonymous SNV ENSG00000127603.29:ENST00000372915.7:exon65:c.C17036T:p.A5679V 1p34.3 C3L-00791 . . . . . . . . . 14.19 D D D D D D . T D 0.579 T T D 0.359 0.390 0.482 . T D D T D D 4.147 28.200 0.999 D D 0.810 8.976 0.813 10.516 1.000 0.722 0.725 0.725 0.735 . 6.030 6.030 7.905 1.026 0.599 1.000 0.994 0.776 799 . . . . MACF1 133 0 104 57 0.354037267080745 TRUE TRUE +ENSG00000187801.15 . BCM GRCh38.p13 chr1 40462945 40462945 + T T C Missense_Mutation SNP ENST00000361584.5 exon5 c.T961C p.S321P exonic ENSG00000187801.15 . nonsynonymous SNV ENSG00000187801.15:ENST00000361584.5:exon5:c.T961C:p.S321P 1p34.2 C3L-00791 . . . . . . . . . 5.19 T T D D . N M T D 0.451 T T T 0.117 0.508 0.181 0.537 T T T T D T 3.563 24.900 0.998 N N 0.099 2.881 -0.039 2.230 0.361 0.563 0.672 0.609 0.636 . 3.130 3.130 -1.376 1.138 0.609 0.000 0.998 0.996 609 Zinc_finger_C2H2-type . . . ZFP69B 194 0 132 69 0.343283582089552 TRUE NA +ENSG00000152092.16 . BCM GRCh38.p13 chr1 176958381 176958381 + G G A Missense_Mutation SNP ENST00000361833.7 exon10 c.C1700T p.T567M exonic ENSG00000152092.16 . nonsynonymous SNV ENSG00000152092.16:ENST00000361833.7:exon10:c.C1700T:p.T567M 1q25.2 C3L-00791 . . . . . . . . rs201600955 11.19 D D D D D D . T N 0.913 T T T 0.335 . 0.298 0.876 D T T T D D 3.843 26.000 0.999 D D 0.764 8.121 0.794 9.951 1.000 0.615 0.574 0.659 0.564 . 5.500 5.500 10.003 1.176 0.674 1.000 0.786 0.944 697 . . . ID=COSV56087176;OCCURENCE=1(large_intestine) ASTN1 281 0 160 72 0.310344827586207 TRUE TRUE +ENSG00000116991.10 . BCM GRCh38.p13 chr1 232460961 232460961 + C C G Missense_Mutation SNP ENST00000366630.5 exon9 c.G3021C p.M1007I exonic ENSG00000116991.10 . nonsynonymous SNV ENSG00000116991.10:ENST00000366630.5:exon9:c.G3021C:p.M1007I 1q42.2 C3L-00791 . . . . . . . . . 15.20 D D D D D D L T D 0.957 T T D 0.595 0.625 0.613 0.751 D T D D D D 3.535 24.800 0.998 D D 0.577 5.700 0.656 6.999 1.000 0.706 0.574 0.710 0.613 . 5.640 5.640 7.834 1.026 0.599 1.000 0.998 0.969 943 PDZ_domain . . . SIPA1L2 280 0 182 100 0.354609929078014 TRUE TRUE +ENSG00000143867.7 . BCM GRCh38.p13 chr2 19352348 19352348 + G G C Missense_Mutation SNP ENST00000272223.3 exon3 c.C728G p.S243C exonic ENSG00000143867.7 . nonsynonymous SNV ENSG00000143867.7:ENST00000272223.3:exon3:c.C728G:p.S243C 2p24.1 C3L-00791 . . . . . . . . . 16.20 D D D D D D M T D 0.692 T T D 0.550 0.457 0.691 . D D D D D T 4.376 31 0.991 D D 0.832 9.433 0.803 10.227 1.000 0.598 0.596 0.607 0.639 . 5.010 5.010 9.775 1.176 0.676 1.000 1.000 1.000 918 Zinc_finger_C2H2-type . . . OSR1 187 0 116 42 0.265822784810127 TRUE TRUE +ENSG00000218819.6 . BCM GRCh38.p13 chr2 21141779 21141779 + A A T Missense_Mutation SNP ENST00000405799.3 exon4 c.A4312T p.T1438S exonic ENSG00000218819.6 . nonsynonymous SNV ENSG00000218819.6:ENST00000405799.3:exon4:c.A4312T:p.T1438S 2p24.1 C3L-00791 . . . . . . . . . 0.14 T T . . . . . T N 0.117 T T T 0.018 0.400 0.088 . . T T T T T 0.460 6.082 0.209 N N -0.637 0.922 -0.754 0.822 0.001 0.487 0.574 0.574 0.564 . 5.110 1.170 0.160 0.212 0.740 0.001 0.573 0.615 693 . . . . TDRD15 97 0 53 28 0.345679012345679 TRUE TRUE +ENSG00000119771.15 . BCM GRCh38.p13 chr2 23691807 23691807 + A A T Nonsense_Mutation SNP ENST00000486442.6 exon7 c.A1213T p.K405X exonic ENSG00000119771.15 . stopgain ENSG00000119771.15:ENST00000486442.6:exon7:c.A1213T:p.K405X 2p24.1 C3L-00791 . . . . . . . . . 5.6 . . . . D A . . . 0.384 . . . . . . . . . D D . . 8.042 40 0.995 D N 1.108 17.841 0.964 16.785 1.000 0.672 0.702 0.645 0.655 . 5.580 5.580 6.099 1.311 0.756 1.000 0.999 0.998 917 BTB/POZ_domain . . . KLHL29 538 0 370 170 0.314814814814815 TRUE TRUE +ENSG00000119778.15 . BCM GRCh38.p13 chr2 23863491 23863491 + C C A Nonsense_Mutation SNP ENST00000238789.10 exon12 c.G1369T p.E457X exonic ENSG00000119778.15 . stopgain ENSG00000119778.15:ENST00000238789.10:exon12:c.G1369T:p.E457X 2p23.3 C3L-00791 . . . . . . . . . 5.6 . . . . . A . . . 0.463 . . . . . . . . . D D D . 7.422 38 0.997 D N 1.183 22.329 1.038 21.420 1.000 0.490 0.714 0.443 0.636 . 5.350 5.350 7.905 1.026 0.599 1.000 1.000 1.000 804 . . . ID=COSV53197278;OCCURENCE=1(breast) ATAD2B 227 1 178 64 0.264462809917355 TRUE TRUE +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167243770 167243770 + G G A Missense_Mutation SNP ENST00000628543.2 exon7 c.G1853A p.R618Q exonic ENSG00000163092.21 . nonsynonymous SNV ENSG00000163092.21:ENST00000628543.2:exon7:c.G1853A:p.R618Q 2q24.3 C3L-00791 0.0001 0.0003 0 0.0010 0 4.508e-05 0 0 rs201184820 10.19 D . D D D D M T D 0.846 T T T 0.201 . 0.233 0.167 T T T T T D 3.348 24.300 0.999 D D 0.778 8.365 0.763 9.108 1.000 0.487 0.574 0.574 0.564 . 5.920 5.920 4.604 1.176 0.676 1.000 0.999 0.998 656 . . . ID=COSV54735788;OCCURENCE=2(skin) XIRP2 188 0 150 54 0.264705882352941 TRUE TRUE +ENSG00000115844.11 . BCM GRCh38.p13 chr2 172100754 172100754 + C C A Missense_Mutation SNP ENST00000234198.9 exon3 c.G776T p.G259V exonic ENSG00000115844.11 . nonsynonymous SNV ENSG00000115844.11:ENST00000234198.9:exon3:c.G776T:p.G259V 2q31.1 C3L-00791 . . . . . . . . . 5.20 T T B B N D N D N 0.192 T D D 0.269 0.287 0.820 . D T T T T T 1.913 18.590 0.821 N N -0.509 1.158 -0.447 1.290 1.000 0.598 0.596 0.596 0.639 . 4.440 4.440 3.228 0.962 0.524 1.000 0.755 0.080 767 . . . . DLX2 208 0 172 98 0.362962962962963 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142117 10142129 + CTTCGACGGCGAG CTTCGACGGCGAG - Frame_Shift_Del DEL ENST00000256474.3 exon1 c.270_282del p.F91Rfs*64 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.270_282del:p.F91Rfs*64 3p25.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 503 0 154 92 0.373983739837398 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47103365 47103365 + G G C Missense_Mutation SNP ENST00000409792.3 exon7 c.C4898G p.P1633R exonic ENSG00000181555.20 . nonsynonymous SNV ENSG00000181555.20:ENST00000409792.3:exon7:c.C4898G:p.P1633R 3p21.31 C3L-00791 . . . . . . . . . 20.20 D D D D D D H D D 0.870 D D D 0.934 0.916 0.973 2.626 D D D D D D 4.172 28.400 0.998 D D 1.208 24.469 1.104 27.515 1.000 0.732 0.744 0.744 0.711 . 5.830 5.830 9.526 1.106 0.596 1.000 1.000 0.999 14 SET_domain . . . SETD2 155 0 63 42 0.4 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609406 52609406 + - NA AATATGTC Frame_Shift_Ins INS ENST00000296302.11 exon16 c.2473_2474insGACATATT p.I825Rfs*33 exonic ENSG00000163939.18 . frameshift insertion ENSG00000163939.18:ENST00000296302.11:exon16:c.2473_2474insGACATATT:p.I825Rfs*33 3p21.1 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 NA NA NA NA NA NA NA +ENSG00000144730.18 . BCM GRCh38.p13 chr3 57114725 57114725 + C C A Missense_Mutation SNP ENST00000296318.12 exon3 c.G277T p.A93S exonic ENSG00000144730.18 . nonsynonymous SNV ENSG00000144730.18:ENST00000296318.12:exon3:c.G277T:p.A93S 3p14.3 C3L-00791 . . . . . . . . . 10.20 D D D D D D L T N 0.691 T T D 0.261 0.291 0.465 0.561 T T T T D T 3.279 24.100 0.998 D D 0.666 6.674 0.705 7.856 1.000 0.707 0.574 0.725 0.530 . 5.670 5.670 6.319 1.026 0.599 1.000 1.000 1.000 524 Interleukin_17_receptor_D,_N-terminal . . . IL17RD 102 0 63 10 0.136986301369863 TRUE TRUE +ENSG00000070476.15 . BCM GRCh38.p13 chr3 126475621 126475621 + G G T Missense_Mutation SNP ENST00000389709.8 exon1 c.C245A p.P82Q exonic ENSG00000070476.15 . nonsynonymous SNV ENSG00000070476.15:ENST00000389709.8:exon1:c.C245A:p.P82Q 3q21.3 C3L-00791 . . . . . . . . . 3.20 D D P B U N L T N 0.131 T T D 0.062 0.285 0.294 0.833 T T T T T T 2.493 22.400 0.933 N N -0.605 0.979 -0.661 0.956 1.000 0.025 0.219 0.289 0.003 . 3.220 2.240 0.445 0.635 0.413 0.972 0.518 0.294 849 . . . . ZXDC 154 0 111 33 0.229166666666667 TRUE TRUE +ENSG00000153802.12 . BCM GRCh38.p13 chr4 67827281 67827283 + CAT CAT - In_Frame_Del DEL ENST00000283916.11 exon8 c.930_932del p.W311del exonic ENSG00000153802.12 . nonframeshift deletion ENSG00000153802.12:ENST00000283916.11:exon8:c.930_932del:p.W311del 4q13.2 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMPRSS11D 108 0 78 36 0.315789473684211 TRUE TRUE +ENSG00000196159.12 . BCM GRCh38.p13 chr4 125407026 125407026 + T T G Missense_Mutation SNP ENST00000674496.1 exon3 c.T5454G p.D1818E exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon3:c.T5454G:p.D1818E 4q28.1 C3L-00791 . . . . . . . . . 13.20 D D D D U D M T D 0.945 T T D 0.525 0.881 0.939 0.628 T D D D D D 2.242 21.200 0.995 N N -0.089 2.211 -0.336 1.492 0.041 0.707 0.574 0.574 0.714 . 5.370 -6.410 -0.773 1.138 0.665 0.060 1.000 0.998 928 Cadherin-like . . . FAT4 294 0 351 25 0.0664893617021277 TRUE TRUE +ENSG00000120251.20 . BCM GRCh38.p13 chr4 157312694 157312694 + A A C Missense_Mutation SNP ENST00000264426.13 exon4 c.A485C p.Q162P exonic ENSG00000120251.20 . nonsynonymous SNV ENSG00000120251.20:ENST00000264426.13:exon4:c.A485C:p.Q162P 4q32.1 C3L-00791 . . . . . . . . . 18.20 D D P D D D M D D 0.960 D D D 0.958 0.757 0.951 1.762 T D D D D D 4.110 27.800 0.997 D D 0.718 7.377 0.728 8.305 1.000 0.487 0.574 0.574 0.613 . 5.480 5.480 8.947 1.312 0.756 1.000 1.000 0.997 951 Receptor,_ligand_binding_region . . . GRIA2 42 0 47 22 0.318840579710145 TRUE TRUE +ENSG00000186105.8 . BCM GRCh38.p13 chr5 62580177 62580177 + G G A Missense_Mutation SNP ENST00000334994.6 exon2 c.G739A p.A247T exonic ENSG00000186105.8 . nonsynonymous SNV ENSG00000186105.8:ENST00000334994.6:exon2:c.G739A:p.A247T 5q12.1 C3L-00791 . . . . . . . . . 2.19 T T B B . D N T N 0.329 T T T 0.046 0.430 0.102 . T T T T T T 2.193 20.800 0.904 D N -0.201 1.874 -0.107 2.026 1.000 0.554 0.588 0.602 0.665 . 4.520 2.630 3.173 1.176 0.676 1.000 1.000 0.976 928 . . . . LRRC70 266 0 89 31 0.258333333333333 TRUE TRUE +ENSG00000112893.9 . BCM GRCh38.p13 chr5 109866894 109866894 + C C T Missense_Mutation SNP ENST00000261483.4 exon22 c.C3331T p.P1111S exonic ENSG00000112893.9 . nonsynonymous SNV ENSG00000112893.9:ENST00000261483.4:exon22:c.C3331T:p.P1111S 5q21.3 C3L-00791 . . . . . . . . . 9.20 D T B B N D M D N 0.225 T D D 0.258 0.442 0.820 0.333 T T T T D T 1.984 19.130 0.996 D D -0.043 2.361 0.053 2.550 1.000 0.757 0.709 0.725 0.657 . 6.030 5.140 4.392 1.026 0.599 0.999 0.368 0.788 741 Glycosyl_hydrolase_family_38,_C-terminal . . . MAN2A1 180 0 132 55 0.294117647058824 TRUE TRUE +ENSG00000145794.17 . BCM GRCh38.p13 chr5 127434806 127434806 + G G A Missense_Mutation SNP ENST00000503335.7 exon15 c.G1960A p.A654T exonic ENSG00000145794.17 . nonsynonymous SNV ENSG00000145794.17:ENST00000503335.7:exon15:c.G1960A:p.A654T 5q23.2 C3L-00791 8.318e-06 9.756e-05 0 0 0 0 0 0 rs754091432 2.20 T T B B N D N T N 0.414 T T T 0.038 0.349 0.110 0.689 T T T T T T 2.664 22.800 0.996 D N -0.124 2.101 0.005 2.376 0.996 0.706 0.574 0.710 0.586 . 5.950 5.080 3.294 1.176 0.676 1.000 0.992 0.856 403 EGF-like,_conserved_site;EGF-like_domain;Laminin_EGF_domain . . ID=COSV57244268;OCCURENCE=1(large_intestine) MEGF10 141 0 74 47 0.388429752066116 TRUE TRUE +ENSG00000127022.15 . BCM GRCh38.p13 chr5 179708321 179708321 + T T A Missense_Mutation SNP ENST00000247461.9 exon5 c.T387A p.H129Q exonic ENSG00000127022.15 . nonsynonymous SNV ENSG00000127022.15:ENST00000247461.9:exon5:c.T387A:p.H129Q 5q35.3 C3L-00791 . . . . . . . . . 15.19 D D D D D D H T D 0.953 T T D 0.526 0.798 0.848 1.024 T D D D D . 2.662 22.800 0.993 D D 0.196 3.286 0.186 3.115 1.000 0.707 0.725 0.702 0.711 . 5.810 3.440 0.329 1.134 0.661 0.995 1.000 0.999 827 . . . . CANX 193 0 118 52 0.305882352941176 TRUE TRUE +ENSG00000124657.1 . BCM GRCh38.p13 chr6 27957620 27957620 + G G T Missense_Mutation SNP ENST00000244623.1 exon1 c.G380T p.C127F exonic ENSG00000124657.1 . nonsynonymous SNV ENSG00000124657.1:ENST00000244623.1:exon1:c.G380T:p.C127F 6p22.1 C3L-00791 . . . . . . . . . 8.20 D D D D U N H T D 0.622 T T T 0.222 0.611 0.635 0.488 T T T T D T 3.299 24.100 0.986 D N 0.113 2.937 -0.078 2.112 0.125 0.487 0.574 0.574 0.542 . 3.680 2.800 4.252 -1.189 -0.117 1.000 0.016 0.991 481 GPCR,_rhodopsin-like,_7TM . . . OR2B6 155 0 125 39 0.23780487804878 TRUE TRUE +ENSG00000197283.17 . BCM GRCh38.p13 chr6 33443719 33443719 + G G T Missense_Mutation SNP ENST00000646630.1 exon15 c.G3167T p.G1056V exonic ENSG00000197283.17 . nonsynonymous SNV ENSG00000197283.17:ENST00000646630.1:exon15:c.G3167T:p.G1056V 6p21.32 C3L-00791 . . . . . . . . . 11.20 T T D D N D N D N 0.469 D D D 0.448 0.232 0.545 1.370 T T D D T D 1.977 19.080 0.929 D N -0.224 1.811 -0.224 1.729 1.000 0.672 0.602 0.702 0.528 . 4.090 3.220 2.582 1.172 0.614 1.000 0.980 0.909 490 Domain_of_unknown_function_DUF3498 . . . SYNGAP1 116 1 76 25 0.247524752475248 TRUE TRUE +ENSG00000124571.18 . BCM GRCh38.p13 chr6 43570594 43570594 + C C - Frame_Shift_Del DEL ENST00000265351.12 exon5 c.529delG p.D177Tfs*6 exonic ENSG00000124571.18 . frameshift deletion ENSG00000124571.18:ENST00000265351.12:exon5:c.529delG:p.D177Tfs*6 6p21.1 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XPO5 142 0 95 37 0.28030303030303 TRUE TRUE +ENSG00000182095.14 . BCM GRCh38.p13 chr7 5316062 5316062 + G G T Missense_Mutation SNP ENST00000430969.5 exon25 c.C6756A p.D2252E exonic ENSG00000182095.14 . nonsynonymous SNV ENSG00000182095.14:ENST00000430969.5:exon25:c.C6756A:p.D2252E 7p22.1 C3L-00791 . . . . . . . . . 3.19 T T P P . N M T N 0.243 T T T 0.074 0.331 0.043 0.511 T T T T D T 2.858 23.100 0.994 D N -0.036 2.384 -0.013 2.316 0.001 0.707 0.725 0.576 0.714 . 4.460 1.560 1.336 1.153 0.652 1.000 0.979 0.964 946 . . . . TNRC18 220 0 144 64 0.307692307692308 NA TRUE +ENSG00000075624.16 . BCM GRCh38.p13 chr7 5528484 5528484 + A A T Missense_Mutation SNP ENST00000646664.1 exon4 c.T599A p.F200Y exonic ENSG00000075624.16 . nonsynonymous SNV ENSG00000075624.16:ENST00000646664.1:exon4:c.T599A:p.F200Y 7p22.1 C3L-00791 . . . . . . . . . 17.19 . D P D D D M D N 0.725 D D D 0.910 0.716 0.976 3.400 D D D D D D 4.577 32 0.978 D D 0.834 9.481 0.803 10.218 1.000 0.675 0.672 0.672 0.756 . 5.550 5.550 8.983 1.207 0.756 1.000 1.000 0.995 825 . . . . ACTB 534 0 401 154 0.277477477477477 NA TRUE +ENSG00000106052.13 . BCM GRCh38.p13 chr7 27792067 27792067 + G G A Missense_Mutation SNP ENST00000396319.6 exon9 c.G1100A p.R367Q exonic ENSG00000106052.13 . nonsynonymous SNV ENSG00000106052.13:ENST00000396319.6:exon9:c.G1100A:p.R367Q 7p15.2 C3L-00791 1.661e-05 0 0 0.0001 0.0002 0 0 0 rs748509003 4.20 T T P B N D L T N 0.203 T T T 0.096 0.592 0.400 0.691 T T T T D D 2.343 21.800 0.981 D N 0.086 2.831 0.240 3.383 0.999 0.706 0.725 0.710 0.714 . 5.750 5.750 2.606 1.176 0.676 0.998 1.000 0.999 499 Calcium_binding_and_coiled-coil_domain-like . . ID=COSV55291617;OCCURENCE=1(stomach) TAX1BP1 431 0 333 130 0.280777537796976 TRUE TRUE +ENSG00000106034.18 . BCM GRCh38.p13 chr7 121267217 121267217 + A A G Missense_Mutation SNP ENST00000310396.10 exon21 c.A2636G p.E879G exonic ENSG00000106034.18 . nonsynonymous SNV ENSG00000106034.18:ENST00000310396.10:exon21:c.A2636G:p.E879G 7q31.31 C3L-00791 . . . . . . . . . 8.20 D D P P D D M T N 0.472 T T T 0.134 0.313 0.222 0.329 T T T T D T 4.148 28.200 0.999 D D 0.502 5.051 0.546 5.608 1.000 0.487 0.590 0.547 0.564 . 5.780 5.780 5.054 1.312 0.756 1.000 0.991 0.958 861 . . . . CPED1 79 0 42 19 0.311475409836066 TRUE TRUE +ENSG00000029534.21 . BCM GRCh38.p13 chr8 41693135 41693135 + C C T Missense_Mutation SNP ENST00000347528.8 exon30 c.G3599A p.C1200Y exonic ENSG00000029534.21 . nonsynonymous SNV ENSG00000029534.21:ENST00000347528.8:exon30:c.G3599A:p.C1200Y 8p11.21 C3L-00791 . . . . . . . . . 19.20 D D D D D D M T D 0.619 D D D 0.732 0.746 0.833 1.321 D D D D D D 3.266 24.000 0.998 D D 0.644 6.400 0.610 6.349 1.000 0.706 0.588 0.710 0.586 . 4.940 4.940 6.176 1.026 0.549 1.000 0.370 0.498 814 ZU5_domain . . . ANK1 511 0 352 172 0.32824427480916 TRUE TRUE +ENSG00000159921.17 . BCM GRCh38.p13 chr9 36222989 36222989 + G G A Missense_Mutation SNP ENST00000642385.2 exon9 c.C1421T p.T474I exonic ENSG00000159921.17 . nonsynonymous SNV ENSG00000159921.17:ENST00000642385.2:exon9:c.C1421T:p.T474I 9p13.3 C3L-00791 . . . . . . . . . 17.20 D T D D D D N D N 0.709 D D D 0.837 0.580 0.974 1.461 D D D D D D 4.065 27.500 0.999 D D 0.680 6.855 0.747 8.731 1.000 0.732 0.725 0.744 0.714 . 5.700 5.700 9.285 1.176 0.618 1.000 1.000 0.998 433 . . . . GNE 432 0 342 130 0.275423728813559 TRUE TRUE +ENSG00000165124.18 . BCM GRCh38.p13 chr9 110407297 110407297 + G G C Missense_Mutation SNP ENST00000374469.6 exon38 c.C8303G p.P2768R exonic ENSG00000165124.18 . nonsynonymous SNV ENSG00000165124.18:ENST00000374469.6:exon38:c.C8303G:p.P2768R 9q31.3 C3L-00791 . . . . . . . . . 14.17 . D D D D D H . . 0.957 D D D 0.859 0.847 0.319 0.500 T T D D D T 3.901 26.400 0.998 D D 0.994 13.740 0.864 12.308 1.000 0.554 0.563 0.618 0.621 . 5.570 5.570 9.756 1.176 0.616 1.000 0.104 0.920 969 Sushi/SCR/CCP_domain . . . SVEP1 250 0 161 71 0.306034482758621 TRUE TRUE +ENSG00000148291.10 . BCM GRCh38.p13 chr9 133360376 133360376 + C C G Missense_Mutation SNP ENST00000371964.5 exon5 c.C629G p.T210S exonic ENSG00000148291.10 . nonsynonymous SNV ENSG00000148291.10:ENST00000371964.5:exon5:c.C629G:p.T210S 9q34.2 C3L-00791 . . . . . . . . . 0.15 T T . . N N . T N 0.034 T T T 0.035 0.299 0.088 0.056 T . T T T . 0.062 1.773 0.464 N N -1.500 0.081 -1.534 0.096 1.000 0.672 0.702 0.702 0.711 . 3.950 -5.050 0.329 -0.563 0.599 0.000 0.000 0.003 908 . . . . SURF2 180 0 124 43 0.25748502994012 TRUE TRUE +ENSG00000123240.17 . BCM GRCh38.p13 chr10 13109126 13109126 + T T A Missense_Mutation SNP ENST00000378747.8 exon3 c.T4A p.S2T exonic ENSG00000123240.17 . nonsynonymous SNV ENSG00000123240.17:ENST00000378747.8:exon3:c.T4A:p.S2T 10p13 C3L-00791 . . . . . . . . . 15.20 D D D D N D M D N 0.468 D D D 0.462 0.198 0.965 0.671 T T D D D T 3.658 25.200 0.994 D D 0.442 4.616 0.461 4.822 0.978 0.706 0.725 0.710 0.714 . 5.440 5.440 4.809 1.138 0.609 1.000 0.996 0.953 952 . . . . OPTN 349 0 284 108 0.275510204081633 TRUE TRUE +ENSG00000023839.12 . BCM GRCh38.p13 chr10 99830847 99830847 + G G T Missense_Mutation SNP ENST00000647814.1 exon21 c.G2879T p.G960V exonic ENSG00000023839.12 . nonsynonymous SNV ENSG00000023839.12:ENST00000647814.1:exon21:c.G2879T:p.G960V 10q24.2 C3L-00791 . . . . . . . . . 19.20 D D D D D D H D D 0.895 D D D 0.906 0.810 0.981 0.294 T D D D D D 4.273 29.300 0.998 D D 1.001 13.956 0.945 15.835 1.000 0.554 0.588 0.547 0.621 . 5.860 5.860 8.996 1.176 0.616 1.000 0.999 0.831 706 . . . ID=COSV100966684;OCCURENCE=1(upper_aerodigestive_tract) ABCC2 294 0 171 80 0.318725099601594 TRUE TRUE +ENSG00000107554.17 . BCM GRCh38.p13 chr10 99955927 99955927 + G G A Missense_Mutation SNP ENST00000324109.9 exon4 c.C1547T p.S516F exonic ENSG00000107554.17 . nonsynonymous SNV ENSG00000107554.17:ENST00000324109.9:exon4:c.C1547T:p.S516F 10q24.2 C3L-00791 . . . . . . . . . 1.19 D T P B N N L T N 0.107 T T T 0.049 0.354 0.532 0.154 T T T T T T 0.432 5.784 0.980 N . -0.774 0.693 -0.937 0.571 0.832 0.672 0.702 0.651 0.711 . 5.920 -2.690 -0.337 -0.186 -0.115 0.000 0.000 0.001 403 . . . . DNMBP 262 0 175 65 0.270833333333333 TRUE TRUE +ENSG00000065154.12 . BCM GRCh38.p13 chr10 124408814 124408822 + ATTATAGAA ATTATAGAA - In_Frame_Del DEL ENST00000368845.6 exon3 c.343_351del p.F115_N117del exonic ENSG00000065154.12 . nonframeshift deletion ENSG00000065154.12:ENST00000368845.6:exon3:c.343_351del:p.F115_N117del 10q26.13 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OAT 342 0 170 90 0.346153846153846 TRUE TRUE +ENSG00000162302.13 . BCM GRCh38.p13 chr11 64369875 64369875 + G G T Missense_Mutation SNP ENST00000334205.9 exon14 c.G1779T p.W593C exonic ENSG00000162302.13 . nonsynonymous SNV ENSG00000162302.13:ENST00000334205.9:exon14:c.G1779T:p.W593C 11q13.1 C3L-00791 . . . . . . . . . 18.20 D D D D D D H T D 0.844 D D D 0.737 0.927 0.889 2.631 D T D D D D 4.795 33 0.994 D D 0.842 9.653 0.709 7.924 1.000 0.707 0.702 0.571 0.714 . 4.460 4.460 7.839 1.001 0.520 1.000 0.996 0.943 413 Protein_kinase_domain . . . RPS6KA4 102 0 48 26 0.351351351351351 TRUE TRUE +ENSG00000213445.10 . BCM GRCh38.p13 chr11 65647610 65647610 + A A C Missense_Mutation SNP ENST00000534313.6 exon9 c.A2258C p.K753T exonic ENSG00000213445.10 . nonsynonymous SNV ENSG00000213445.10:ENST00000534313.6:exon9:c.A2258C:p.K753T 11q13.1 C3L-00791 . . . . . . . . . 5.20 T T D P U D L T N 0.161 T T D 0.199 0.468 0.475 2.553 D T T T D T 2.773 23.000 0.786 N N -0.160 1.993 -0.087 2.083 1.000 0.767 0.644 0.851 0.562 . 4.090 4.090 0.756 1.278 0.653 0.219 1.000 0.982 269 PDZ_domain . . . SIPA1 68 0 57 17 0.22972972972973 TRUE TRUE +ENSG00000110711.10 . BCM GRCh38.p13 chr11 67490413 67490413 + A A G Missense_Mutation SNP ENST00000279146.8 exon5 c.A743G p.Y248C exonic ENSG00000110711.10 . nonsynonymous SNV ENSG00000110711.10:ENST00000279146.8:exon5:c.A743G:p.Y248C 11q13.2 C3L-00791 . . . . . . . . . 14.17 D D . . D D . T D 0.795 D D D 0.757 0.467 0.786 1.285 T T D D D D 4.320 29.700 0.998 D D 0.820 9.175 0.774 9.401 1.000 0.707 0.698 0.644 0.714 . 5.390 5.390 8.794 1.312 0.756 1.000 0.982 0.991 754 . . . . AIP 343 0 221 103 0.317901234567901 TRUE NA +ENSG00000134909.18 . BCM GRCh38.p13 chr11 128986612 128986612 + T T C Missense_Mutation SNP ENST00000310343.13 exon13 c.A1313G p.D438G exonic ENSG00000134909.18 . nonsynonymous SNV ENSG00000134909.18:ENST00000310343.13:exon13:c.A1313G:p.D438G 11q24.3 C3L-00791 . . . . . . . . . 15.20 D D D D D D H T D 0.991 T T D 0.516 0.869 0.762 2.649 T T D D D D 4.261 29.200 0.999 D D 0.836 9.535 0.724 8.232 1.000 0.706 0.588 0.710 0.592 . 5.820 4.700 7.670 1.138 0.665 1.000 0.997 0.860 572 Rho_GTPase-activating_protein_domain . . . ARHGAP32 179 1 187 22 0.105263157894737 TRUE TRUE +ENSG00000182326.15 . BCM GRCh38.p13 chr12 7065150 7065150 + C C T Missense_Mutation SNP ENST00000360817.10 exon6 c.C568T p.P190S exonic ENSG00000182326.15 . nonsynonymous SNV ENSG00000182326.15:ENST00000360817.10:exon6:c.C568T:p.P190S 12p13.31 C3L-00791 . . . . . . . . . 13.20 D D D D D D H T D 0.605 T T D 0.342 0.903 0.513 0.818 T T T T D D 3.493 24.700 0.999 D D 0.799 8.756 0.717 8.076 1.000 0.615 0.610 0.659 0.530 . 6.170 5.280 4.082 1.026 0.599 1.000 1.000 0.992 707 CUB_domain . . . C1S 300 0 226 82 0.266233766233766 TRUE TRUE +ENSG00000254206.5 . BCM GRCh38.p13 chr16 29381531 29381531 + A A T Missense_Mutation SNP ENST00000524087.5 exon8 c.T3401A p.V1134E exonic ENSG00000254206.5 . nonsynonymous SNV ENSG00000254206.5:ENST00000524087.5:exon8:c.T3401A:p.V1134E 16p11.2 C3L-00791 . . . . . . . . . 2.16 T D . . . N M T N 0.206 T T T 0.030 0.297 0.333 . . T T T T T 1.942 18.820 0.961 N N -0.945 0.466 -1.142 0.335 0.000 0.693 0.659 0.659 0.668 . . . 0.072 0.100 0.094 0.007 0.004 0.007 779 . . . . NPIPB11 94 1 67 20 0.229885057471264 NA TRUE +ENSG00000070915.10 . BCM GRCh38.p13 chr16 56870230 56870230 + C C A Missense_Mutation SNP ENST00000563236.6 exon5 c.C736A p.L246I exonic ENSG00000070915.10 . nonsynonymous SNV ENSG00000070915.10:ENST00000563236.6:exon5:c.C736A:p.L246I 16q13 C3L-00791 . . . . . . . . . 10.20 D D B B N D L D N 0.447 D D D 0.439 0.575 0.831 0.104 T D D D T T 1.416 15.190 0.965 N N -0.539 1.102 -0.522 1.167 1.000 0.394 0.518 0.578 0.613 . 5.390 1.000 -0.025 0.094 0.599 0.745 0.970 0.038 520 Amino_acid_permease/_SLC12A_domain . . . SLC12A3 150 0 98 46 0.319444444444444 TRUE TRUE +ENSG00000172828.13 . BCM GRCh38.p13 chr16 66963552 66963552 + A A G Missense_Mutation SNP ENST00000303334.9 exon3 c.A349G p.I117V exonic ENSG00000172828.13 . nonsynonymous SNV ENSG00000172828.13:ENST00000303334.9:exon3:c.A349G:p.I117V 16q22.1 C3L-00791 . . . . . . . . . 0.20 T T B B N N N T N 0.082 T T T 0.049 0.389 0.120 0.117 T T T T T T -0.713 0.041 0.275 N N -1.920 0.013 -2.043 0.011 1.000 0.615 0.588 0.659 0.542 . 3.370 -6.750 -0.333 -0.211 -0.227 0.000 0.011 0.021 151 Carboxylesterase,_type_B . . . CES3 144 0 128 8 0.0588235294117647 TRUE TRUE +ENSG00000125430.9 . BCM GRCh38.p13 chr17 14345162 14345162 + C C T Missense_Mutation SNP ENST00000360954.3 exon2 c.C689T p.P230L exonic ENSG00000125430.9 . nonsynonymous SNV ENSG00000125430.9:ENST00000360954.3:exon2:c.C689T:p.P230L 17p12 C3L-00791 . . . . . . . . . 18.20 D D D D U D H T D 0.956 D D D 0.869 0.927 0.953 . D D D D D D 3.960 26.700 0.999 D D 1.007 14.130 0.883 13.044 1.000 0.615 0.588 0.659 0.564 . 4.730 4.730 7.708 1.004 0.599 1.000 0.996 0.986 981 Sulfotransferase_domain . . . HS3ST3B1 57 0 27 9 0.25 NA TRUE +ENSG00000108557.19 . BCM GRCh38.p13 chr17 17797909 17797909 + G G T Missense_Mutation SNP ENST00000353383.6 exon3 c.G4961T p.G1654V exonic ENSG00000108557.19 . nonsynonymous SNV ENSG00000108557.19:ENST00000353383.6:exon3:c.G4961T:p.G1654V 17p11.2 C3L-00791 . . . . . . . . . 5.20 D D B B N D L T N 0.444 T T D 0.078 0.116 0.182 0.774 T T T T T T 1.700 17.020 0.987 D N -0.276 1.674 -0.138 1.941 0.105 0.707 0.725 0.576 0.714 . 4.560 3.570 2.029 1.176 0.676 0.024 0.888 0.877 310 . . . . RAI1 191 0 130 67 0.34010152284264 TRUE TRUE +ENSG00000108797.12 . BCM GRCh38.p13 chr17 42698786 42698786 + C C - Frame_Shift_Del DEL ENST00000264638.9 exon24 c.4031delC p.P1345Lfs*134 exonic ENSG00000108797.12 . frameshift deletion ENSG00000108797.12:ENST00000264638.9:exon24:c.4031delC:p.P1345Lfs*134 17q21.2 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTNAP1 114 0 57 37 0.393617021276596 TRUE TRUE +ENSG00000186834.4 . BCM GRCh38.p13 chr17 45150203 45150203 + A A G Missense_Mutation SNP ENST00000332499.4 exon1 c.A1013G p.Q338R exonic ENSG00000186834.4 . nonsynonymous SNV ENSG00000186834.4:ENST00000332499.4:exon1:c.A1013G:p.Q338R 17q21.31 C3L-00791 . . . . . . . . . 3.19 T T B B N D N . N 0.108 T T T 0.072 0.074 0.134 1.049 T T T T T T 2.528 22.500 0.802 D D -0.515 1.147 -0.321 1.521 1.000 0.442 0.522 0.522 0.562 . 4.370 3.290 3.781 1.312 0.756 1.000 1.000 0.997 653 . . . . HEXIM1 180 1 107 62 0.366863905325444 TRUE TRUE +ENSG00000082641.16 . BCM GRCh38.p13 chr17 48059204 48059204 + G G A Missense_Mutation SNP ENST00000362042.8 exon6 c.G1882A p.D628N exonic ENSG00000082641.16 . nonsynonymous SNV ENSG00000082641.16:ENST00000362042.8:exon6:c.G1882A:p.D628N 17q21.32 C3L-00791 . . . . . . . . . 16.20 D D P P D D L D D 0.496 D D D 0.585 0.276 0.926 0.737 D D D T D D 3.639 25.200 0.999 D D 0.663 6.628 0.737 8.498 1.000 0.722 0.702 0.699 0.735 . 5.790 5.790 9.940 1.176 0.676 1.000 1.000 1.000 823 Basic_leucine_zipper_domain,_Maf-type . . . NFE2L1 295 0 189 61 0.244 TRUE TRUE +ENSG00000069188.17 . BCM GRCh38.p13 chr17 73388031 73388031 + G G A Missense_Mutation SNP ENST00000392650.8 exon30 c.C4199T p.P1400L exonic ENSG00000069188.17 . nonsynonymous SNV ENSG00000069188.17:ENST00000392650.8:exon30:c.C4199T:p.P1400L 17q25.1 C3L-00791 . . . . . . . . . 18.20 D D D D D D M D D 0.730 D D D 0.589 0.212 0.936 0.763 T T D D D D 3.795 25.800 0.999 D D 0.953 12.492 0.835 11.243 1.000 0.615 0.574 0.659 0.564 . 4.820 4.820 9.083 1.083 0.676 1.000 0.994 0.708 467 Fibronectin_type_III . . . SDK2 125 0 63 26 0.292134831460674 TRUE TRUE +ENSG00000177191.2 . BCM GRCh38.p13 chr19 41426244 41426244 + G G A Missense_Mutation SNP ENST00000321702.2 exon3 c.C535T p.R179W exonic ENSG00000177191.2 . nonsynonymous SNV ENSG00000177191.2:ENST00000321702.2:exon3:c.C535T:p.R179W 19q13.2 C3L-00791 1.656e-05 0 0 0 0 3.019e-05 0 0 rs144748764 9.19 D D P P D D M T D 0.649 T T D 0.228 0.676 0.486 0.637 T T T T D T 3.871 26.200 0.999 D . 0.271 3.633 0.211 3.237 1.000 0.660 0.551 0.696 0.662 . 4.140 3.060 2.592 1.157 0.654 0.917 0.988 0.995 856 . . . ID=COSV54197039;OCCURENCE=2(large_intestine) B3GNT8 174 0 125 59 0.320652173913043 TRUE TRUE +ENSG00000177191.2 . BCM GRCh38.p13 chr19 41426250 41426250 + C C A Missense_Mutation SNP ENST00000321702.2 exon3 c.G529T p.G177W exonic ENSG00000177191.2 . nonsynonymous SNV ENSG00000177191.2:ENST00000321702.2:exon3:c.G529T:p.G177W 19q13.2 C3L-00791 . . . . . . . . . 6.19 T D D D N D L T N 0.560 T T D 0.206 0.303 0.439 0.677 T T T T D T 3.036 23.500 0.994 N . 0.019 2.580 -0.112 2.013 1.000 0.660 0.551 0.696 0.662 . 4.140 4.140 0.017 0.115 0.580 0.000 0.896 0.995 856 . . . . B3GNT8 183 1 134 59 0.305699481865285 TRUE TRUE +ENSG00000142556.19 . BCM GRCh38.p13 chr19 52016813 52016813 + T T C Missense_Mutation SNP ENST00000270649.11 exon5 c.A785G p.N262S exonic ENSG00000142556.19 . nonsynonymous SNV ENSG00000142556.19:ENST00000270649.11:exon5:c.A785G:p.N262S 19q13.41 C3L-00791 5.783e-05 0 0 0 0 6.012e-05 0 0.0002 rs374687937 0.19 T T B B . N N T N 0.031 T T T 0.030 . 0.223 0.097 T T T T T T -1.858 0.001 0.133 N N -2.416 0.001 -2.492 0.001 0.999 0.563 0.654 0.609 0.636 . 3.760 -7.530 -4.575 -2.289 -2.480 0.000 0.000 0.001 988 . . . . ZNF614 213 0 129 55 0.298913043478261 TRUE NA +ENSG00000204604.12 . BCM GRCh38.p13 chr19 52840729 52840729 + G G A Missense_Mutation SNP ENST00000595646.6 exon4 c.C1565T p.P522L exonic ENSG00000204604.12 . nonsynonymous SNV ENSG00000204604.12:ENST00000595646.6:exon4:c.C1565T:p.P522L 19q13.41 C3L-00791 . . . . . . . . . 5.17 . D P B . D L T . 0.305 T T T 0.175 0.564 0.166 0.241 T T T T D D 1.432 15.300 0.921 D N -0.080 2.238 -0.266 1.637 0.306 0.707 0.725 0.609 0.636 . 1.990 1.990 2.827 0.580 0.478 0.968 0.004 0.007 982 Zinc_finger_C2H2-type . . . ZNF468 134 0 111 47 0.29746835443038 NA TRUE +ENSG00000197497.11 . BCM GRCh38.p13 chr19 53182897 53182897 + A A C Translation_Start_Site SNP ENST00000396424.5 exon2 c.T2G p.M1? exonic ENSG00000197497.11 . startloss ENSG00000197497.11:ENST00000396424.5:exon2:c.T2G:p.M1? 19q13.42 C3L-00791 . . . . . . . . . 7.16 D D P B . D . T D 0.758 T T D 0.138 0.987 0.646 . . . T T D D 3.260 24.000 0.965 N N -0.196 1.887 -0.358 1.449 0.999 0.651 0.670 0.496 0.684 . 2.370 2.370 2.704 1.030 0.658 0.876 0.004 0.005 994 . . . . ZNF665 235 0 232 94 0.288343558282209 TRUE TRUE +ENSG00000105048.17 . BCM GRCh38.p13 chr19 55146684 55146684 + C C - Frame_Shift_Del DEL ENST00000588981.6 exon4 c.70delG p.E24Kfs*27 exonic ENSG00000105048.17 . frameshift deletion ENSG00000105048.17:ENST00000588981.6:exon4:c.70delG:p.E24Kfs*27 19q13.42 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNNT1 27 0 46 21 0.313432835820896 TRUE TRUE +ENSG00000121417.14 . BCM GRCh38.p13 chr19 57641788 57641788 + T T G Missense_Mutation SNP ENST00000347302.7 exon3 c.T1302G p.F434L exonic ENSG00000121417.14 . nonsynonymous SNV ENSG00000121417.14:ENST00000347302.7:exon3:c.T1302G:p.F434L 19q13.43 C3L-00791 . . . . . . . . . 7.19 D D D D . N M T D 0.522 T T T 0.142 0.741 0.092 0.490 T T T T D T 2.509 22.400 0.998 N N -0.309 1.591 -0.482 1.232 0.882 0.672 0.654 0.702 0.636 . 3.380 2.350 0.223 0.086 0.660 0.027 0.928 0.950 988 Zinc_finger_C2H2-type . . . ZNF211 163 0 87 61 0.412162162162162 TRUE TRUE +ENSG00000186866.16 . BCM GRCh38.p13 chr21 45278115 45278115 + T T - Frame_Shift_Del DEL ENST00000349485.9 exon5 c.693delA p.E232Nfs*43 exonic ENSG00000186866.16 . frameshift deletion ENSG00000186866.16:ENST00000349485.9:exon5:c.693delA:p.E232Nfs*43 21q22.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POFUT2 231 0 182 75 0.291828793774319 TRUE TRUE +ENSG00000147168.13 . BCM GRCh38.p13 chrX 71108681 71108681 + A A C Missense_Mutation SNP ENST00000374202.7 exon6 c.T772G p.F258V exonic ENSG00000147168.13;ENSG00000285171.1 . nonsynonymous SNV ENSG00000147168.13:ENST00000374202.7:exon6:c.T772G:p.F258V,ENSG00000285171.1:ENST00000646505.1:exon6:c.T772G:p.F258V Xq13.1 C3L-00791 . . . . . . . . . 9.19 T T P B N N M D N 0.580 T D D 0.606 0.442 0.987 1.483 T D D D D T 2.505 22.400 0.964 D . . . . . 1.000 . . . . . 4.770 3.600 2.459 1.312 0.756 0.954 0.955 0.328 519 . . . . IL2RG 82 0 32 63 0.663157894736842 TRUE TRUE +ENSG00000176092.15 . BCM GRCh38.p13 chr1 26342808 26342808 + G G A Silent SNP ENST00000308182.9 exon5 c.C3150T p.T1050T exonic ENSG00000176092.15 . synonymous SNV ENSG00000176092.15:ENST00000308182.9:exon5:c.C3150T:p.T1050T 1p36.11 C3L-00791 1.648e-05 0 0 0 0 2.997e-05 0 0 rs759764606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100366316;OCCURENCE=1(skin) CRYBG2 201 0 157 27 0.146739130434783 TRUE NA +ENSG00000006555.11 . BCM GRCh38.p13 chr1 54781282 54781282 + G G A Silent SNP ENST00000371276.9 exon7 c.C1671T p.G557G exonic ENSG00000006555.11 . synonymous SNV ENSG00000006555.11:ENST00000371276.9:exon7:c.C1671T:p.G557G 1p32.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC22 79 0 70 24 0.25531914893617 TRUE NA +ENSG00000163159.14 . BCM GRCh38.p13 chr1 151190053 151190053 + T T C Silent SNP ENST00000640458.1 exon1 c.A69G p.A23A exonic ENSG00000163159.14 . synonymous SNV ENSG00000163159.14:ENST00000640458.1:exon1:c.A69G:p.A23A 1q21.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS72 241 0 173 42 0.195348837209302 TRUE TRUE +ENSG00000115221.12 . BCM GRCh38.p13 chr2 160196247 160196247 + C C A Silent SNP ENST00000283249.7 exon3 c.G315T p.A105A exonic ENSG00000115221.12 . synonymous SNV ENSG00000115221.12:ENST00000283249.7:exon3:c.G315T:p.A105A 2q24.2 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGB6 221 1 137 45 0.247252747252747 TRUE TRUE +ENSG00000024862.17 . BCM GRCh38.p13 chr6 138779882 138779882 + G G T Silent SNP ENST00000611852.4 exon3 c.G489T p.P163P exonic ENSG00000024862.17 . synonymous SNV ENSG00000024862.17:ENST00000611852.4:exon3:c.G489T:p.P163P 6q24.1 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC28A 218 0 167 69 0.292372881355932 TRUE TRUE +ENSG00000130338.13 . BCM GRCh38.p13 chr6 158501775 158501775 + G G A Silent SNP ENST00000367097.8 exon13 c.G2112A p.T704T exonic ENSG00000130338.13 . synonymous SNV ENSG00000130338.13:ENST00000367097.8:exon13:c.G2112A:p.T704T 6q25.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100893912;OCCURENCE=1(endometrium) TULP4 198 0 82 70 0.460526315789474 TRUE NA +ENSG00000158683.8 . BCM GRCh38.p13 chr7 47931199 47931199 + C C T Silent SNP ENST00000289672.6 exon6 c.G642A p.T214T exonic ENSG00000158683.8 . synonymous SNV ENSG00000158683.8:ENST00000289672.6:exon6:c.G642A:p.T214T 7p12.3 C3L-00791 1.649e-05 0 0 0 0 0 0 0.0001 rs577610499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKD1L1 324 0 229 109 0.322485207100592 TRUE NA +ENSG00000146826.17 . BCM GRCh38.p13 chr7 100157449 100157449 + C C T Silent SNP ENST00000316937.8 exon4 c.G648A p.L216L exonic ENSG00000146826.17 . synonymous SNV ENSG00000146826.17:ENST00000316937.8:exon4:c.G648A:p.L216L 7q22.1 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP11 215 0 117 64 0.353591160220994 TRUE TRUE +ENSG00000105983.22 . BCM GRCh38.p13 chr7 156734256 156734256 + C C T Silent SNP ENST00000353442.10 exon10 c.G759A p.G253G exonic ENSG00000105983.22 . synonymous SNV ENSG00000105983.22:ENST00000353442.10:exon10:c.G759A:p.G253G 7q36.3 C3L-00791 8.314e-06 9.806e-05 0 0 0 0 0 0 rs747964556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LMBR1 100 0 33 14 0.297872340425532 TRUE NA +ENSG00000164736.6 . BCM GRCh38.p13 chr8 54459668 54459668 + C C T Silent SNP ENST00000297316.5 exon2 c.C918T p.G306G exonic ENSG00000164736.6 . synonymous SNV ENSG00000164736.6:ENST00000297316.5:exon2:c.C918T:p.G306G 8q11.23 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOX17 178 0 101 59 0.36875 TRUE NA +ENSG00000198363.18 . BCM GRCh38.p13 chr8 61503455 61503455 + T T C Silent SNP ENST00000379454.9 exon25 c.A2181G p.V727V exonic ENSG00000198363.18 . synonymous SNV ENSG00000198363.18:ENST00000379454.9:exon25:c.A2181G:p.V727V 8q12.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASPH 140 0 104 53 0.337579617834395 TRUE NA +ENSG00000165084.16 . BCM GRCh38.p13 chr8 68331147 68331147 + A A G Silent SNP ENST00000518698.6 exon1 c.A135G p.A45A exonic ENSG00000165084.16 . synonymous SNV ENSG00000165084.16:ENST00000518698.6:exon1:c.A135G:p.A45A 8q13.2 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C8orf34 84 0 56 23 0.291139240506329 TRUE TRUE +ENSG00000041515.16 . BCM GRCh38.p13 chr13 109140748 109140748 + G G T Silent SNP ENST00000356711.7 exon32 c.G4470T p.P1490P exonic ENSG00000041515.16 . synonymous SNV ENSG00000041515.16:ENST00000356711.7:exon32:c.G4470T:p.P1490P 13q33.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO16 104 0 58 36 0.382978723404255 TRUE TRUE +ENSG00000215421.9 . BCM GRCh38.p13 chr18 74633080 74633080 + G G A Silent SNP ENST00000299687.9 exon1 c.G2061A p.L687L exonic ENSG00000215421.9 . synonymous SNV ENSG00000215421.9:ENST00000299687.9:exon1:c.G2061A:p.L687L 18q22.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF407 170 0 126 30 0.192307692307692 TRUE TRUE +ENSG00000126249.8 . BCM GRCh38.p13 chr19 34421543 34421543 + C C T Silent SNP ENST00000246535.4 exon6 c.C822T p.L274L exonic ENSG00000126249.8 . synonymous SNV ENSG00000126249.8:ENST00000246535.4:exon6:c.C822T:p.L274L 19q13.11 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55824961;OCCURENCE=1(skin) PDCD2L 134 0 113 38 0.251655629139073 TRUE TRUE +ENSG00000183668.18 . BCM GRCh38.p13 chr19 43267971 43267971 + C C T Silent SNP ENST00000270077.8 exon2 c.G243A p.S81S exonic ENSG00000183668.18 . synonymous SNV ENSG00000183668.18:ENST00000270077.8:exon2:c.G243A:p.S81S 19q13.31 C3L-00791 0.0005 9.612e-05 0.0003 0.0002 0.0006 0.0005 0 0.0009 rs376642216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52485996;OCCURENCE=1(breast),1(central_nervous_system) PSG9 207 0 144 69 0.323943661971831 NA TRUE +ENSG00000171848.15 . BCM GRCh38.p13 chr2 10142316 10142316 + T T C IGR SNP NA NA NA NA intergenic ENSG00000171848.15;ENSG00000206647.1 dist=10902;dist=12756 . . 2p25.1 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RRM2 235 0 171 56 0.246696035242291 TRUE NA +ENSG00000121671.12 . BCM GRCh38.p13 chr11 45847468 45847468 + T T G 5'Flank SNP NA NA NA NA upstream ENSG00000121671.12 dist=7 . . 11p11.2 C3L-00791 . . . . . . . . . 3.14 D D . . . N . . N 0.220 T T D 0.049 0.376 0.043 0.746 T . T T T T 0.665 8.129 0.924 N N -1.619 0.051 -1.746 0.042 1.000 0.025 0.219 0.179 0.562 . 4.820 -9.640 -4.115 -0.190 0.665 0.000 0.152 0.290 491 . . . . CRY2 159 1 107 24 0.183206106870229 TRUE TRUE +ENSG00000007541.17 . BCM GRCh38.p13 chr16 581290 581290 + C C T Intron SNP NA NA NA NA intronic ENSG00000007541.17 . . . 16p13.3 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIGQ 40 0 24 8 0.25 TRUE NA +ENSG00000105516.11 . BCM GRCh38.p13 chr19 48635498 48635498 + C C A Intron SNP NA NA NA NA intronic ENSG00000105516.11 . . . 19q13.33 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DBP 120 0 91 43 0.32089552238806 TRUE NA +ENSG00000105136.20 . BCM GRCh38.p13 chr19 57491624 57491624 + A A T Intron SNP NA NA NA NA intronic ENSG00000105136.20;ENSG00000268107.6 . . . 19q13.43 C3L-00791 . . . . . . . . . 2.12 D D . . . N . T N . T T . 0.033 0.381 0.107 . . . T T T T 0.138 2.455 0.562 N . -0.856 0.577 -1.120 0.355 0.712 0.372 0.546 0.464 0.714 . 2.930 -5.560 -3.579 0.118 0.720 0.000 0.028 0.025 982 Krueppel-associated_box . . . ZNF419 212 0 149 69 0.31651376146789 NA TRUE +ENSG00000179253.3 . BCM GRCh38.p13 chr20 61719134 61719134 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000179253.3 . . . 20q13.33 C3L-00791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL162457.1 101 0 94 5 0.0505050505050505 TRUE NA +ENSG00000117713.20 . BCM GRCh38.p13 chr1 26773887 26773887 + C C T Nonsense_Mutation SNP ENST00000324856.13 exon17 c.C4090T p.Q1364X exonic ENSG00000117713.20 . stopgain ENSG00000117713.20:ENST00000324856.13:exon17:c.C4090T:p.Q1364X 1p36.11 C3L-00792 . . . . . . . . . 6.7 . . . . D D . . . 0.943 . . . . . . . . . D D D . 7.995 40 0.997 D N 1.125 18.643 0.972 17.234 1.000 0.722 0.702 0.702 0.735 . 5.670 4.710 5.805 1.026 0.599 1.000 1.000 0.974 412 . . . . ARID1A 142 1 64 27 0.296703296703297 TRUE TRUE +ENSG00000079277.21 . BCM GRCh38.p13 chr1 46583236 46583236 + T T G Missense_Mutation SNP ENST00000649800.1 exon3 c.A128C p.K43T exonic ENSG00000079277.21 . nonsynonymous SNV ENSG00000079277.21:ENST00000649800.1:exon3:c.A128C:p.K43T 1p33 C3L-00792 . . . . . . . . . 7.20 D D B B D D L T D . T T D 0.059 0.322 0.568 0.325 T T T T T T 1.486 15.650 0.939 D N -0.806 0.646 -0.710 0.885 1.000 0.707 0.714 0.688 0.714 . 5.880 -2.530 0.526 1.138 0.665 0.998 0.990 0.720 108 . . . . MKNK1 91 0 56 15 0.211267605633803 TRUE TRUE +ENSG00000268043.7 . BCM GRCh38.p13 chr1 146964359 146964359 + A A G Missense_Mutation SNP ENST00000617931.4 exon9 c.A496G p.N166D exonic ENSG00000268043.7 . nonsynonymous SNV ENSG00000268043.7:ENST00000617931.4:exon9:c.A496G:p.N166D 1q21.1 C3L-00792 . . . . . . . . . 0.11 . T . . . N . . . 0.075 T T T 0.053 0.135 0.072 . . . T T T T 0.601 7.518 0.940 N N -0.746 0.737 -0.923 0.589 0.000 0.638 0.670 0.618 0.621 . 1.130 1.130 -1.220 0.459 0.280 0.004 0.327 0.040 770 Neuroblastoma_breakpoint_family_(NBPF)_domain . . . NBPF12 305 0 147 22 0.130177514792899 NA TRUE +ENSG00000116991.10 . BCM GRCh38.p13 chr1 232399204 232399204 + C C T Missense_Mutation SNP ENST00000366630.5 exon22 c.G5092A p.E1698K exonic ENSG00000116991.10 . nonsynonymous SNV ENSG00000116991.10:ENST00000366630.5:exon22:c.G5092A:p.E1698K 1q42.2 C3L-00792 . . . . . . . . . 18.20 D D D D D D M D D 0.625 D D D 0.401 0.285 0.461 0.760 T T D D D D 3.980 26.800 0.999 D D 0.752 7.910 0.700 7.746 1.000 0.732 0.563 0.723 0.728 . 4.990 4.990 4.917 1.026 0.549 1.000 1.000 0.998 963 . . . . SIPA1L2 272 0 177 34 0.161137440758294 TRUE TRUE +ENSG00000162885.13 . BCM GRCh38.p13 chr1 235470936 235470936 + C C G Missense_Mutation SNP ENST00000366600.8 exon6 c.G676C p.E226Q exonic ENSG00000162885.13 . nonsynonymous SNV ENSG00000162885.13:ENST00000366600.8:exon6:c.G676C:p.E226Q 1q42.3 C3L-00792 . . . . . . . . . 13.19 D D D D D D M T N 0.934 T T D 0.252 0.499 0.807 0.884 T T D D D . 3.647 25.200 0.998 D D 0.620 6.128 0.647 6.865 1.000 0.742 0.744 0.710 0.662 . 5.330 5.330 5.725 1.026 0.549 1.000 0.995 0.954 359 . . . . B3GALNT2 211 0 115 38 0.248366013071895 TRUE TRUE +ENSG00000133019.11 . BCM GRCh38.p13 chr1 239907952 239907952 + C C A Nonsense_Mutation SNP ENST00000255380.8 exon5 c.C501A p.Y167X exonic ENSG00000133019.11 . stopgain ENSG00000133019.11:ENST00000255380.8:exon5:c.C501A:p.Y167X 1q43 C3L-00792 . . . . . . . . . 5.6 . . . . D D . . . 0.914 . . . . . . . . . D D . . 6.395 36 0.992 D N 0.862 10.111 0.758 9.003 0.601 0.615 0.574 0.659 0.564 . 5.900 5.900 2.442 1.026 0.599 1.000 1.000 0.999 972 GPCR,_rhodopsin-like,_7TM . . . CHRM3 295 1 208 52 0.2 TRUE TRUE +ENSG00000119778.15 . BCM GRCh38.p13 chr2 23828885 23828885 + C C T Missense_Mutation SNP ENST00000238789.10 exon15 c.G1783A p.D595N exonic ENSG00000119778.15 . nonsynonymous SNV ENSG00000119778.15:ENST00000238789.10:exon15:c.G1783A:p.D595N 2p23.3 C3L-00792 . . . . . . . . . 10.16 T D . . . D . D D 0.211 D D D 0.462 0.693 0.813 0.485 T T T T D D 3.026 23.500 0.997 D N 0.272 3.636 0.318 3.821 1.000 0.651 0.634 0.653 0.684 . 4.850 3.970 5.017 1.026 0.599 1.000 1.000 1.000 825 . . . . ATAD2B 170 0 49 9 0.155172413793103 TRUE TRUE +ENSG00000153250.20 . BCM GRCh38.p13 chr2 160281322 160281322 + G G T Missense_Mutation SNP ENST00000348849.8 exon10 c.C943A p.Q315K exonic ENSG00000153250.20 . nonsynonymous SNV ENSG00000153250.20:ENST00000348849.8:exon10:c.C943A:p.Q315K 2q24.2 C3L-00792 . . . . . . . . . 10.20 D D P P D D M T N 0.912 T T T 0.224 . 0.596 1.383 T T D T D D 3.761 25.700 0.988 D D 0.711 7.277 0.759 9.006 1.000 0.706 0.588 0.710 0.677 . 5.740 5.740 9.719 1.176 0.676 1.000 1.000 0.998 406 . . . . RBMS1 138 0 31 13 0.295454545454545 TRUE TRUE +ENSG00000136546.16 . BCM GRCh38.p13 chr2 166465852 166465852 + C C A Missense_Mutation SNP ENST00000643258.1 exon8 c.G800T p.C267F exonic ENSG00000136546.16 . nonsynonymous SNV ENSG00000136546.16:ENST00000643258.1:exon8:c.G800T:p.C267F 2q24.3 C3L-00792 . . . . . . . . . 19.20 D D D D D D H D D 0.921 D D D 0.952 0.913 0.964 0.300 T D D D D D 3.499 24.700 0.990 D D 0.826 9.319 0.718 8.094 1.000 0.554 0.574 0.618 0.564 . 5.480 5.480 7.876 1.026 0.549 1.000 0.988 0.366 567 Ion_transport_domain . . . SCN7A 357 0 151 26 0.146892655367232 TRUE TRUE +ENSG00000138399.18 . BCM GRCh38.p13 chr2 169557191 169557191 + T T C Missense_Mutation SNP ENST00000453153.7 exon6 c.A1078G p.K360E exonic ENSG00000138399.18 . nonsynonymous SNV ENSG00000138399.18:ENST00000453153.7:exon6:c.A1078G:p.K360E 2q31.1 C3L-00792 . . . . . . . . . 3.20 T T P B D D L T N 0.272 T T T 0.123 0.467 0.272 0.185 T T T T T T 1.446 15.390 0.991 D N -0.119 2.115 0.000 2.359 0.004 0.706 0.709 0.710 0.613 . 5.020 5.020 0.243 0.207 -0.113 1.000 0.998 0.837 837 . . . . FASTKD1 219 0 126 28 0.181818181818182 TRUE NA +ENSG00000144460.12 . BCM GRCh38.p13 chr2 225582540 225582540 + C C A Missense_Mutation SNP ENST00000636099.1 exon5 c.C1123A p.P375T exonic ENSG00000144460.12 . nonsynonymous SNV ENSG00000144460.12:ENST00000636099.1:exon5:c.C1123A:p.P375T 2q36.3 C3L-00792 . . . . . . . . . 3.20 T T B B N D L T N 0.167 T T T 0.057 0.260 0.082 0.378 T T T T T T 1.296 14.360 0.771 D D -0.538 1.103 -0.424 1.329 0.009 0.487 0.574 0.574 0.564 . 5.160 4.280 2.890 0.109 -0.202 1.000 0.391 0.180 691 Neuronal_tyrosine-phosphorylated_phosphoinositide-3-kinase_adapter,_N-terminal . . . NYAP2 31 0 23 3 0.115384615384615 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146594 10146594 + A A - Frame_Shift_Del DEL ENST00000256474.3 exon2 c.421delA p.N141Mfs*18 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon2:c.421delA:p.N141Mfs*18 3p25.3 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 502 0 149 73 0.328828828828829 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52407245 52407245 + A A C Missense_Mutation SNP ENST00000460680.6 exon7 c.T509G p.F170C exonic ENSG00000163930.10 . nonsynonymous SNV ENSG00000163930.10:ENST00000460680.6:exon7:c.T509G:p.F170C 3p21.1 C3L-00792 . . . . . . . . . 19.20 D D D D D D H T D 0.965 D D D 0.885 0.825 0.943 3.061 D D D D D D 4.235 29.000 0.995 D D 1.061 15.961 0.989 18.199 1.000 0.707 0.698 0.725 0.714 . 5.950 5.950 7.444 1.312 0.756 1.000 1.000 0.998 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . ID=COSV56239815;OCCURENCE=2(kidney) BAP1 540 0 230 82 0.262820512820513 TRUE TRUE +ENSG00000163635.19 . BCM GRCh38.p13 chr3 63990221 63990221 + C C - Frame_Shift_Del DEL ENST00000295900.10 exon10 c.1407delC p.P470Lfs*60 exonic ENSG00000163635.19 . frameshift deletion ENSG00000163635.19:ENST00000295900.10:exon10:c.1407delC:p.P470Lfs*60 3p14.1 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATXN7 288 0 134 47 0.259668508287293 TRUE TRUE +ENSG00000174963.17 . BCM GRCh38.p13 chr3 147396327 147396327 + C C T Missense_Mutation SNP ENST00000383075.7 exon3 c.G213A p.M71I exonic ENSG00000174963.17 . nonsynonymous SNV ENSG00000174963.17:ENST00000383075.7:exon3:c.G213A:p.M71I 3q24 C3L-00792 . . . . . . . . . 5.19 D T B B N . L T N 0.713 T T T 0.081 0.335 0.642 0.979 T T T T D D 2.522 22.500 0.990 D D 0.058 2.725 0.241 3.392 1.000 0.598 0.590 0.607 0.639 . 5.010 5.010 7.568 1.026 0.599 1.000 0.994 0.994 921 . . . . ZIC4 66 0 32 9 0.219512195121951 TRUE NA +ENSG00000018189.13 . BCM GRCh38.p13 chr4 70722719 70722719 + C C T Missense_Mutation SNP ENST00000226328.8 exon1 c.C146T p.S49L exonic ENSG00000018189.13 . nonsynonymous SNV ENSG00000018189.13:ENST00000226328.8:exon1:c.C146T:p.S49L 4q13.3 C3L-00792 . . . . . . . . . 10.20 D T D D N D L T N 0.611 T T D 0.268 0.313 0.380 1.844 D T T T D D 4.179 28.500 0.999 D D 0.661 6.609 0.695 7.656 1.000 0.615 0.608 0.735 0.655 . 5.510 5.510 7.568 1.026 0.599 1.000 0.996 0.992 862 . . . . RUFY3 105 0 75 25 0.25 TRUE TRUE +ENSG00000164125.15 . BCM GRCh38.p13 chr4 158171351 158171351 + G G T Missense_Mutation SNP ENST00000296530.12 exon2 c.C25A p.Q9K exonic ENSG00000164125.15 . nonsynonymous SNV ENSG00000164125.15:ENST00000296530.12:exon2:c.C25A:p.Q9K 4q32.1 C3L-00792 . . . . . . . . . 0.16 T T . . N N . T N 0.253 T T T 0.053 0.334 0.325 0.229 T . T T T T 1.973 19.050 0.966 N N -0.226 1.804 -0.094 2.064 1.000 0.447 0.563 0.547 0.562 . 5.300 5.300 1.863 1.176 0.676 0.917 0.696 0.988 640 . . . . GASK1B 51 0 23 9 0.28125 TRUE TRUE +ENSG00000176979.14 . BCM GRCh38.p13 chr4 165040121 165040121 + C C T Missense_Mutation SNP ENST00000512596.6 exon3 c.C49T p.P17S exonic ENSG00000176979.14 . nonsynonymous SNV ENSG00000176979.14:ENST00000512596.6:exon3:c.C49T:p.P17S 4q32.3 C3L-00792 . . . . . . . . . 2.20 T T P P U N N T D 0.080 T T T 0.090 0.594 0.095 0.170 T T T T T D 1.442 15.360 0.856 N N -0.565 1.052 -0.741 0.841 0.000 0.487 0.590 0.547 0.564 . 2.340 0.497 -0.556 -0.419 -0.176 0.000 0.003 0.654 970 Zinc_finger,_RING-type . . . TRIM60 127 0 83 29 0.258928571428571 TRUE TRUE +ENSG00000083857.14 . BCM GRCh38.p13 chr4 186618955 186618955 + T T A Missense_Mutation SNP ENST00000441802.7 exon10 c.A7631T p.E2544V exonic ENSG00000083857.14 . nonsynonymous SNV ENSG00000083857.14:ENST00000441802.7:exon10:c.A7631T:p.E2544V 4q35.2 C3L-00792 . . . . . . . . . 8.20 T D P P D D L T D 0.616 T T D 0.171 0.555 0.452 0.410 T T T T D T 3.304 24.100 0.983 D D 0.622 6.151 0.561 5.764 1.000 0.707 0.574 0.725 0.668 . 5.200 5.200 5.118 1.138 0.665 1.000 0.464 0.811 879 Cadherin-like . . . FAT1 210 1 121 29 0.193333333333333 TRUE TRUE +ENSG00000171495.17 . BCM GRCh38.p13 chr5 41004468 41004468 + G G C Missense_Mutation SNP ENST00000399564.5 exon37 c.C4072G p.R1358G exonic ENSG00000171495.17 . nonsynonymous SNV ENSG00000171495.17:ENST00000399564.5:exon37:c.C4072G:p.R1358G 5p13.1 C3L-00792 . . . . . . . . . 9.20 T D D D D D L T N 0.697 T T T 0.221 0.528 0.265 0.033 T T D T D T 3.397 24.400 0.998 D D 0.553 5.474 0.568 5.848 0.930 0.487 0.574 0.574 0.564 . 5.520 5.520 3.254 1.176 0.665 1.000 0.993 0.958 492 . . . . MROH2B 202 0 119 34 0.222222222222222 TRUE TRUE +ENSG00000175426.11 . BCM GRCh38.p13 chr5 96423378 96423378 + C C A Nonsense_Mutation SNP ENST00000311106.8 exon4 c.G478T p.G160X exonic ENSG00000175426.11 . stopgain ENSG00000175426.11:ENST00000311106.8:exon4:c.G478T:p.G160X 5q15 C3L-00792 . . . . . . . . . 5.6 . . . . D A . . . 0.702 . . . . . . . . . D D . . 7.281 37 0.994 D N 1.191 22.956 1.064 23.476 1.000 0.706 0.563 0.710 0.655 . 6.030 6.030 5.856 1.026 0.599 1.000 1.000 0.998 761 Peptidase_S8/S53_domain;Kexin/furin_catalytic_domain . . . PCSK1 606 1 419 78 0.156941649899396 TRUE TRUE +ENSG00000253159.3 . BCM GRCh38.p13 chr5 141432645 141432645 + C C A Missense_Mutation SNP ENST00000252085.4 exon1 c.C1886A p.A629E exonic ENSG00000253159.3 . nonsynonymous SNV ENSG00000253159.3:ENST00000252085.4:exon1:c.C1886A:p.A629E 5q31.3 C3L-00792 1.7e-05 0 0 0 0 3.098e-05 0 0 rs758701539 8.18 D D D D . N M T D 0.614 T T D 0.206 0.726 0.733 . . T T T D T 2.158 20.500 0.991 N N 0.198 3.293 0.065 2.595 0.996 0.677 0.588 0.576 0.601 . 5.060 5.060 0.031 0.127 -0.197 0.000 0.180 0.179 813 Cadherin-like . . . PCDHGA12 542 0 393 98 0.19959266802444 NA TRUE +ENSG00000091009.8 . BCM GRCh38.p13 chr5 146254967 146254967 + A A T Missense_Mutation SNP ENST00000506502.2 exon9 c.A1304T p.N435I exonic ENSG00000091009.8;ENSG00000275740.1 . nonsynonymous SNV ENSG00000275740.1:ENST00000506502.2:exon9:c.A1304T:p.N435I,ENSG00000091009.8:ENST00000265271.7:exon10:c.A1469T:p.N490I 5q32 C3L-00792 . . . . . . . . . 15.20 D D D D D D M T D 0.837 T T D 0.629 0.343 0.783 1.173 T T D D D D 4.067 27.500 0.993 D D 0.676 6.793 0.691 7.580 1.000 0.732 0.744 0.725 0.728 . 5.230 5.230 8.685 1.312 0.756 1.000 0.997 0.997 712 . . . . RBM27 107 0 39 9 0.1875 TRUE TRUE +ENSG00000153157.13 . BCM GRCh38.p13 chr6 10926381 10926381 + A A G Missense_Mutation SNP ENST00000283141.11 exon16 c.A1261G p.K421E exonic ENSG00000153157.13 . nonsynonymous SNV ENSG00000153157.13:ENST00000283141.11:exon16:c.A1261G:p.K421E 6p24.2 C3L-00792 . . . . . . . . . 0.20 T T B B N N N T N 0.125 T T T 0.015 0.090 0.107 0.175 T T T T T T 0.664 8.120 0.883 N N -1.257 0.190 -1.199 0.284 0.000 0.615 0.574 0.659 0.564 . 4.610 -0.509 0.530 0.139 -0.054 0.002 0.895 0.988 819 . . . . SYCP2L 158 0 78 8 0.0930232558139535 TRUE TRUE +ENSG00000188112.9 . BCM GRCh38.p13 chr6 42104875 42104875 + G G A Missense_Mutation SNP ENST00000341865.9 exon4 c.C3037T p.P1013S exonic ENSG00000188112.9 . nonsynonymous SNV ENSG00000188112.9:ENST00000341865.9:exon4:c.C3037T:p.P1013S 6p21.1 C3L-00792 . . . . . . . . . 4.17 D D . . U N L T D 0.246 T T T 0.104 0.149 0.067 . . T T T T T 2.443 22.300 0.968 D N -0.411 1.359 -0.452 1.281 1.000 0.840 0.492 0.737 0.555 . 3.940 3.050 0.546 1.061 0.595 0.496 0.225 0.043 921 . . . . C6orf132 30 0 9 3 0.25 TRUE NA +ENSG00000161036.13 . BCM GRCh38.p13 chr7 102472702 102472708 + TGTGCTC TGTGCTC - Frame_Shift_Del DEL ENST00000292616.10 exon14 c.1701_1707del p.L569Gfs*16 exonic ENSG00000161036.13 . frameshift deletion ENSG00000161036.13:ENST00000292616.10:exon14:c.1701_1707del:p.L569Gfs*16 7q22.1 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRWD1 209 0 114 45 0.283018867924528 TRUE TRUE +ENSG00000147324.11 . BCM GRCh38.p13 chr8 8890501 8890501 + T T C Missense_Mutation SNP ENST00000276282.7 exon1 c.A2558G p.Y853C exonic ENSG00000147324.11 . nonsynonymous SNV ENSG00000147324.11:ENST00000276282.7:exon1:c.A2558G:p.Y853C 8p23.1 C3L-00792 . . . . . . . . . 14.20 D D D D D D M T D 0.832 T T T 0.292 0.413 0.753 0.824 T T D D D D 4.250 29.100 0.998 D D 0.620 6.129 0.601 6.241 1.000 0.767 0.851 0.672 0.662 . 5.040 5.040 5.634 1.138 0.665 1.000 0.980 0.995 850 . . . . MFHAS1 287 0 180 10 0.0526315789473684 TRUE NA +ENSG00000066855.16 . BCM GRCh38.p13 chr8 65707040 65707040 + T T C Missense_Mutation SNP ENST00000262146.9 exon6 c.T548C p.I183T exonic ENSG00000066855.16 . nonsynonymous SNV ENSG00000066855.16:ENST00000262146.9:exon6:c.T548C:p.I183T 8q13.1 C3L-00792 . . . . . . . . rs377237637 0.20 T T B B N N N T N 0.094 T T T 0.081 . 0.105 0.136 T T T T T T -0.327 0.274 0.288 N N -1.201 0.226 -1.256 0.240 0.039 0.732 0.602 0.744 0.728 . 5.490 0.559 -0.160 -1.262 -1.980 0.000 0.000 0.000 724 . . . . MTFR1 112 0 67 21 0.238636363636364 TRUE NA +ENSG00000140396.13 . BCM GRCh38.p13 chr8 70156678 70156678 + G G A Nonsense_Mutation SNP ENST00000452400.7 exon11 c.C1687T p.Q563X exonic ENSG00000140396.13 . stopgain ENSG00000140396.13:ENST00000452400.7:exon11:c.C1687T:p.Q563X 8q13.3 C3L-00792 . . . . . . . . . 5.6 . . . . D A . . . 0.971 . . . . . . . . . D D . . 7.304 37 0.998 D N 1.200 23.737 1.073 24.296 1.000 0.722 0.654 0.699 0.636 . 5.930 5.930 6.992 1.106 0.676 1.000 1.000 0.998 943 . . . . NCOA2 125 0 74 16 0.177777777777778 TRUE TRUE +ENSG00000260230.3 . BCM GRCh38.p13 chr9 109137529 109137529 + G G A Nonsense_Mutation SNP ENST00000561981.3 exon5 c.C961T p.Q321X exonic ENSG00000260230.3 . stopgain ENSG00000260230.3:ENST00000561981.3:exon5:c.C961T:p.Q321X 9q31.3 C3L-00792 . . . . . . . . rs878853280 5.6 . . . . D D . . . 0.301 . . . . . . . . . D D . . 7.957 40 0.997 D N 1.080 16.697 0.988 18.139 1.000 0.554 0.547 0.602 0.542 . 6.040 6.040 9.602 1.176 0.676 1.000 0.997 0.997 916 . . . ID=COSV73746916;OCCURENCE=1(skin) FRRS1L 103 0 45 12 0.210526315789474 TRUE TRUE +ENSG00000136883.14 . BCM GRCh38.p13 chr9 114093920 114093920 + G G A Missense_Mutation SNP ENST00000468460.2 exon14 c.C1351T p.R451C exonic ENSG00000136883.14 . nonsynonymous SNV ENSG00000136883.14:ENST00000468460.2:exon14:c.C1351T:p.R451C 9q32 C3L-00792 3.303e-05 0 0 0.0001 0 3.003e-05 0 6.075e-05 rs774477975 8.20 D D D B N D M T N 0.543 T T D 0.180 0.330 0.824 0.580 T T T T D T 3.294 24.100 0.992 D N -0.092 2.200 -0.081 2.103 0.989 0.646 0.574 0.659 0.700 . 5.030 3.060 0.874 0.230 -0.106 0.794 0.106 0.081 509 . . . ID=COSV65117601;OCCURENCE=1(large_intestine),1(stomach) KIF12 209 0 151 33 0.179347826086957 TRUE TRUE +ENSG00000188523.8 . BCM GRCh38.p13 chr9 132410393 132410393 + T T A Missense_Mutation SNP ENST00000343036.6 exon1 c.T122A p.I41N exonic ENSG00000188523.8 . nonsynonymous SNV ENSG00000188523.8:ENST00000343036.6:exon1:c.T122A:p.I41N 9q34.13 C3L-00792 . . . . . . . . . 6.18 D D D P N N . T N 0.748 T T D 0.103 0.348 0.432 0.361 . T T T D T 4.021 27.100 0.993 D N 0.308 3.820 0.322 3.845 1.000 0.564 0.492 0.504 0.555 . 4.910 4.910 1.931 1.137 0.607 1.000 0.197 0.408 894 . . . . CFAP77 360 0 212 73 0.256140350877193 TRUE TRUE +ENSG00000128815.19 . BCM GRCh38.p13 chr10 48957144 48957144 + G G C Missense_Mutation SNP ENST00000325239.11 exon52 c.G7993C p.V2665L exonic ENSG00000128815.19 . nonsynonymous SNV ENSG00000128815.19:ENST00000325239.11:exon52:c.G7993C:p.V2665L 10q11.23 C3L-00792 4.654e-05 0 0 0 0 0.0001 0 0 rs200398332 5.20 T T P P D D N T N 0.395 T T T 0.288 0.570 0.362 . T T T T T D 2.825 23.100 0.950 D D 0.156 3.115 0.294 3.680 0.778 0.707 0.725 0.574 0.655 . 5.510 5.510 3.607 1.176 0.674 1.000 0.769 0.686 970 BEACH_domain . . . WDFY4 178 0 102 20 0.163934426229508 TRUE TRUE +ENSG00000186862.20 . BCM GRCh38.p13 chr10 101018906 101018906 + - NA A Nonsense_Mutation SNP ENST00000619208.6 exon8 c.1239dupT p.E414* exonic ENSG00000186862.20 . stopgain ENSG00000186862.20:ENST00000619208.6:exon8:c.1239dupT:p.E414* 10q24.31 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDZD7 NA NA NA NA NA NA NA +ENSG00000148848.14 . BCM GRCh38.p13 chr10 126036317 126036317 + G G - Frame_Shift_Del DEL ENST00000368679.8 exon21 c.2367delC p.R790Gfs*18 exonic ENSG00000148848.14 . frameshift deletion ENSG00000148848.14:ENST00000368679.8:exon21:c.2367delC:p.R790Gfs*18 10q26.2 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAM12 165 0 71 23 0.24468085106383 TRUE TRUE +ENSG00000205495.1 . BCM GRCh38.p13 chr11 5047357 5047357 + G G A Missense_Mutation SNP ENST00000380370.1 exon1 c.G832A p.A278T exonic ENSG00000205495.1 . nonsynonymous SNV ENSG00000205495.1:ENST00000380370.1:exon1:c.G832A:p.A278T 11p15.4 C3L-00792 . . . . . . . . . 9.20 D D D D D N M T D 0.583 T T T 0.205 0.664 0.429 0.083 T T T T D T 3.377 24.300 0.998 D N 0.553 5.476 0.426 4.552 0.000 0.487 0.574 0.547 0.564 . 4.190 4.190 0.434 0.191 0.662 0.002 0.007 0.234 841 GPCR,_rhodopsin-like,_7TM . . . OR52J3 190 0 82 16 0.163265306122449 TRUE TRUE +ENSG00000110786.18 . BCM GRCh38.p13 chr11 18742372 18742372 + G G T Missense_Mutation SNP ENST00000358540.7 exon7 c.C615A p.F205L exonic ENSG00000110786.18 . nonsynonymous SNV ENSG00000110786.18:ENST00000358540.7:exon7:c.C615A:p.F205L 11p15.1 C3L-00792 . . . . . . . . . 5.20 T T B B D D N T N 0.205 T T T 0.061 0.243 0.437 0.426 T T T T T D 1.958 18.930 0.980 D D -0.498 1.180 -0.367 1.433 0.000 0.626 0.590 0.805 0.613 . 4.940 3.040 2.100 1.157 0.654 1.000 1.000 0.775 804 . . . ID=COSV100659538;OCCURENCE=1(endometrium) PTPN5 476 0 329 90 0.214797136038186 TRUE TRUE +ENSG00000179292.5 . BCM GRCh38.p13 chr11 66295490 66295490 + C C T Missense_Mutation SNP ENST00000327259.5 exon2 c.C1244T p.T415M exonic ENSG00000179292.5 . nonsynonymous SNV ENSG00000179292.5:ENST00000327259.5:exon2:c.C1244T:p.T415M 11q13.2 C3L-00792 . . . . . . . . . 4.19 T T P B D N N . N 0.226 T T D 0.062 0.273 0.043 . D T T T T T 2.220 21.000 0.956 D N -0.158 1.997 -0.081 2.102 0.753 0.581 0.590 0.576 0.542 . 4.000 4.000 2.041 0.955 0.518 0.879 0.610 0.387 91 . . . . TMEM151A 42 0 20 11 0.354838709677419 TRUE TRUE +ENSG00000174791.11 . BCM GRCh38.p13 chr11 66333599 66333599 + C C A Missense_Mutation SNP ENST00000311320.9 exon8 c.G1651T p.D551Y exonic ENSG00000174791.11 . nonsynonymous SNV ENSG00000174791.11:ENST00000311320.9:exon8:c.G1651T:p.D551Y 11q13.2 C3L-00792 . . . . . . . . . 10.20 D D D D N D M T D 0.682 T T D 0.188 0.697 0.448 0.773 T D T T D T 3.101 23.600 0.994 N N 0.163 3.145 0.023 2.439 1.000 0.707 0.588 0.723 0.714 . 4.490 2.610 0.586 1.026 0.599 0.577 0.930 0.813 63 VPS9_domain . . . RIN1 126 0 67 29 0.302083333333333 TRUE TRUE +ENSG00000173120.15 . BCM GRCh38.p13 chr11 67217846 67217846 + T T C Missense_Mutation SNP ENST00000529006.7 exon9 c.T803C p.I268T exonic ENSG00000173120.15 . nonsynonymous SNV ENSG00000173120.15:ENST00000529006.7:exon9:c.T803C:p.I268T 11q13.2 C3L-00792 . . . . . . . . . 17.20 D D D D D D M T D 0.822 D D D 0.895 0.813 0.907 2.568 T T D D D D 3.999 27.000 0.999 D D 0.843 9.676 0.797 10.049 1.000 0.707 0.725 0.725 0.714 . 5.480 5.480 7.657 1.122 0.640 1.000 1.000 1.000 244 JmjC_domain . . ID=COSV67082156;OCCURENCE=1(stomach) KDM2A 177 0 117 34 0.225165562913907 TRUE TRUE +ENSG00000236981.1 . BCM GRCh38.p13 chr11 124023247 124023247 + A A T Missense_Mutation SNP ENST00000375024.1 exon1 c.A235T p.M79L exonic ENSG00000236981.1 . nonsynonymous SNV ENSG00000236981.1:ENST00000375024.1:exon1:c.A235T:p.M79L 11q24.2 C3L-00792 . . . . . . . . . 0.20 T T B B N N N T N 0.116 T T T 0.089 0.478 0.166 0.270 T T T T T T 1.250 14.020 0.839 N N -0.752 0.727 -0.676 0.935 0.000 0.487 0.574 0.547 0.542 . 3.330 2.200 -0.407 1.285 0.752 0.000 0.997 0.966 816 GPCR,_rhodopsin-like,_7TM . . . OR10G9 84 1 57 19 0.25 NA TRUE +ENSG00000177675.8 . BCM GRCh38.p13 chr12 7432472 7432472 + C C T Missense_Mutation SNP ENST00000313599.7 exon4 c.G710A p.R237H exonic ENSG00000177675.8 . nonsynonymous SNV ENSG00000177675.8:ENST00000313599.7:exon4:c.G710A:p.R237H 12p13.31 C3L-00792 0.0001 0 0 0 0 0.0003 0 0 rs751654593 0.19 T T B B . N L T N 0.072 T T T 0.021 0.548 0.222 0.269 T T T T T T -0.983 0.008 0.842 N N -1.733 0.032 -1.907 0.021 1.000 0.757 0.574 0.547 0.657 . 1.850 -3.700 -5.680 -1.588 -1.044 0.000 0.000 0.012 871 SRCR_domain;SRCR-like_domain . . ID=COSV58026045;OCCURENCE=1(prostate) CD163L1 148 0 81 21 0.205882352941176 TRUE TRUE +ENSG00000167548.15 . BCM GRCh38.p13 chr12 49053540 49053540 + C C A Missense_Mutation SNP ENST00000301067.11 exon6 c.G775T p.A259S exonic ENSG00000167548.15 . nonsynonymous SNV ENSG00000167548.15:ENST00000301067.11:exon6:c.G775T:p.A259S 12q13.12 C3L-00792 . . . . . . . . . 3.19 T . B B N N N D N 0.530 T T D 0.318 0.436 0.433 0.168 T T T T T T 1.666 16.800 0.935 D N -0.224 1.811 -0.010 2.325 1.000 0.672 0.702 0.702 0.711 . 5.050 5.050 0.150 1.026 0.599 0.011 1.000 1.000 357 Zinc_finger,_PHD-type;Zinc_finger,_RING-type;Zinc_finger,_PHD-finger . . . KMT2D 167 1 130 28 0.177215189873418 TRUE TRUE +ENSG00000123358.20 . BCM GRCh38.p13 chr12 52056634 52056634 + G G T Missense_Mutation SNP ENST00000394825.6 exon4 c.G1147T p.D383Y exonic ENSG00000123358.20 . nonsynonymous SNV ENSG00000123358.20:ENST00000394825.6:exon4:c.G1147T:p.D383Y 12q13.13 C3L-00792 . . . . . . . . . 15.20 D D D D N D M T D 0.965 T T D 0.489 0.491 0.826 1.285 T D D D D D 5.067 33 0.996 D D 0.881 10.577 0.850 11.772 1.000 0.660 0.611 0.607 0.592 . 4.940 4.940 9.783 1.176 0.676 1.000 1.000 0.996 538 Nuclear_hormone_receptor,_ligand-binding_domain . . . NR4A1 77 0 39 13 0.25 TRUE TRUE +ENSG00000166860.3 . BCM GRCh38.p13 chr12 57003362 57003362 + T T C Missense_Mutation SNP ENST00000300101.3 exon2 c.A1556G p.D519G exonic ENSG00000166860.3 . nonsynonymous SNV ENSG00000166860.3:ENST00000300101.3:exon2:c.A1556G:p.D519G 12q13.3 C3L-00792 1.676e-05 0 0 0.0001 0 0 0 6.141e-05 rs769151317 6.20 T D P P D D L T N 0.409 T T T 0.157 0.615 0.754 0.681 T T T T D T 3.934 26.500 0.997 D D 0.519 5.189 0.586 6.057 1.000 0.707 0.616 0.725 0.636 . 5.700 5.700 6.118 1.138 0.665 1.000 1.000 0.998 152 Zinc_finger_C2H2-type . . . ZBTB39 339 0 180 58 0.243697478991597 TRUE NA +ENSG00000089094.19 . BCM GRCh38.p13 chr12 121442770 121442770 + G G T Missense_Mutation SNP ENST00000377071.9 exon19 c.C2671A p.Q891K exonic ENSG00000089094.19 . nonsynonymous SNV ENSG00000089094.19:ENST00000377071.9:exon19:c.C2671A:p.Q891K 12q24.31 C3L-00792 . . . . . . . . . 4.20 D T P B N D L T N 0.501 T T T 0.115 0.265 0.180 0.590 T T T T T D 2.667 22.800 0.984 D N 0.309 3.828 0.439 4.647 1.000 0.707 0.702 0.702 0.714 . 5.970 5.970 5.446 1.172 0.672 1.000 0.990 0.972 573 . . . . KDM2B 31 0 27 5 0.15625 TRUE TRUE +ENSG00000111452.13 . BCM GRCh38.p13 chr12 131136983 131136983 + T T C Missense_Mutation SNP ENST00000261654.10 exon23 c.T2405C p.I802T exonic ENSG00000111452.13 . nonsynonymous SNV ENSG00000111452.13:ENST00000261654.10:exon23:c.T2405C:p.I802T 12q24.33 C3L-00792 . . . . . . . . . 15.18 D D D D D D . T D 0.644 D D D 0.524 0.731 0.673 0.761 T T D D D D 3.939 26.600 0.998 . D 0.438 4.588 0.392 4.299 0.039 0.554 0.588 0.578 0.564 . 4.230 4.230 5.358 1.086 0.665 1.000 0.999 0.978 988 GPCR,_family_2-like;GPCR,_family_2,_secretin-like,_conserved_site . . . ADGRD1 215 0 170 42 0.19811320754717 TRUE TRUE +ENSG00000139842.15 . BCM GRCh38.p13 chr13 113228010 113228010 + - NA T Nonsense_Mutation SNP ENST00000375440.9 exon4 c.404dupT p.N136* exonic ENSG00000139842.15 . stopgain ENSG00000139842.15:ENST00000375440.9:exon4:c.404dupT:p.N136* 13q34 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUL4A NA NA NA NA NA NA NA +ENSG00000168952.15 . BCM GRCh38.p13 chr14 24974692 24974692 + C C G Missense_Mutation SNP ENST00000323944.9 exon2 c.G127C p.E43Q exonic ENSG00000168952.15 . nonsynonymous SNV ENSG00000168952.15:ENST00000323944.9:exon2:c.G127C:p.E43Q 14q12 C3L-00792 . . . . . . . . . 8.19 D T P B D D L . N 0.285 T T T 0.125 0.314 0.279 0.275 D T T T D D 3.031 23.500 0.997 D D 0.344 4.017 0.415 4.470 1.000 0.706 0.634 0.710 0.564 . 5.790 5.790 6.156 1.026 0.599 1.000 1.000 0.999 658 Syntaxin-binding_protein_6,_PH_domain;Exocyst_complex_component_Sec3,_PIP2-binding_N-terminal_domain . . . STXBP6 149 0 71 9 0.1125 TRUE TRUE +ENSG00000133961.20 . BCM GRCh38.p13 chr14 73277140 73277140 + G G T Missense_Mutation SNP ENST00000555238.5 exon13 c.C1394A p.P465Q exonic ENSG00000133961.20 . nonsynonymous SNV ENSG00000133961.20:ENST00000555238.5:exon13:c.C1394A:p.P465Q 14q24.2 C3L-00792 . . . . . . . . . 15.20 D D D D D D M T D 0.563 T T T 0.255 0.208 0.835 0.507 T D D D D D 3.811 25.900 0.994 D D 0.709 7.247 0.741 8.597 1.000 0.672 0.702 0.644 0.711 . 5.650 5.650 6.404 1.176 0.676 1.000 1.000 0.995 743 . . . . NUMB 247 0 85 41 0.325396825396825 TRUE TRUE +ENSG00000186628.12 . BCM GRCh38.p13 chr15 82768983 82768983 + C C T Missense_Mutation SNP ENST00000334574.12 exon9 c.G1450A p.E484K exonic ENSG00000186628.12 . nonsynonymous SNV ENSG00000186628.12:ENST00000334574.12:exon9:c.G1450A:p.E484K 15q25.2 C3L-00792 . . . . . . . . . 6.20 T T P B N D M T N 0.496 T T D 0.060 0.439 0.439 0.106 T T T T D D 3.244 24.000 0.999 D N 0.058 2.723 0.106 2.759 0.999 0.554 0.588 0.547 0.613 . 5.460 3.530 1.629 1.026 0.599 0.998 0.723 0.711 505 Fibronectin_type_III . . . FSD2 60 0 37 9 0.195652173913043 TRUE TRUE +ENSG00000150394.14 . BCM GRCh38.p13 chr16 61655653 61655653 + G G T Missense_Mutation SNP ENST00000577390.6 exon11 c.C1723A p.P575T exonic ENSG00000150394.14 . nonsynonymous SNV ENSG00000150394.14:ENST00000577390.6:exon11:c.C1723A:p.P575T 16q21 C3L-00792 . . . . . . . . . 15.20 D D D D D D L T D 0.835 T T D 0.493 0.577 0.718 1.248 D T D D D D 3.900 26.300 0.997 D D 0.747 7.836 0.729 8.321 0.446 0.554 0.574 0.618 0.564 . 5.650 4.700 9.540 1.176 0.676 1.000 0.955 0.994 770 Cadherin-like . . . CDH8 434 0 251 84 0.250746268656716 TRUE TRUE +ENSG00000132510.10 . BCM GRCh38.p13 chr17 7849583 7849583 + C C A Missense_Mutation SNP ENST00000448097.6 exon11 c.C3295A p.P1099T exonic ENSG00000132510.10 . nonsynonymous SNV ENSG00000132510.10:ENST00000448097.6:exon11:c.C3295A:p.P1099T 17p13.1 C3L-00792 . . . . . . . . . 10.20 D T D D D D L T N 0.589 T T D 0.201 0.348 0.165 0.505 T T T T D D 3.604 25.100 0.964 D D 0.653 6.510 0.636 6.703 1.000 0.672 0.702 0.645 0.636 . 4.710 4.710 6.825 1.026 0.599 1.000 1.000 0.998 297 . . . . KDM6B 265 1 223 79 0.26158940397351 TRUE TRUE +ENSG00000176994.11 . BCM GRCh38.p13 chr17 18316369 18316369 + G G A Missense_Mutation SNP ENST00000406438.5 exon1 c.G580A p.E194K exonic ENSG00000176994.11 . nonsynonymous SNV ENSG00000176994.11:ENST00000406438.5:exon1:c.G580A:p.E194K 17p11.2 C3L-00792 . . . . . . . . . 16.19 D D P P D D M D D 0.960 D D D 0.846 0.505 0.714 0.290 T D D D D . 4.267 29.300 0.999 D D 0.407 4.387 0.456 4.780 1.000 0.628 0.672 0.695 0.639 . 6.030 5.060 9.561 1.176 0.676 1.000 1.000 1.000 503 Folliculin,_N-terminal;Folliculin/SMCR8,_tripartite_DENN_domain . . . SMCR8 144 1 67 16 0.192771084337349 TRUE TRUE +ENSG00000167525.14 . BCM GRCh38.p13 chr17 28704403 28704403 + G G T Missense_Mutation SNP ENST00000439862.7 exon4 c.C344A p.S115Y exonic ENSG00000167525.14 . nonsynonymous SNV ENSG00000167525.14:ENST00000439862.7:exon4:c.C344A:p.S115Y 17q11.2 C3L-00792 . . . . . . . . . 7.20 D D P P D D L T D 0.712 T T T 0.102 0.317 0.229 0.123 T T T T D T 2.149 20.500 0.982 D N -0.189 1.907 -0.235 1.704 0.896 0.650 0.380 0.607 0.492 . 5.050 3.010 1.814 1.176 0.676 0.974 0.068 0.074 151 Phospholipase_A2_domain . . . PROCA1 95 0 58 15 0.205479452054795 NA TRUE +ENSG00000067191.16 . BCM GRCh38.p13 chr17 39191538 39191538 + T T C Missense_Mutation SNP ENST00000394303.8 exon3 c.A227G p.E76G exonic ENSG00000067191.16 . nonsynonymous SNV ENSG00000067191.16:ENST00000394303.8:exon3:c.A227G:p.E76G 17q12 C3L-00792 . . . . . . . . . 18.20 D D D D D D M T D 0.851 D D D 0.674 0.272 0.694 1.692 T D D D D D 4.722 32 0.999 D D 0.784 8.478 0.726 8.265 1.000 0.707 0.654 0.725 0.636 . 4.840 4.840 8.005 1.127 0.589 1.000 1.000 0.998 598 . . . . CACNB1 164 0 141 28 0.165680473372781 TRUE TRUE +ENSG00000108819.11 . BCM GRCh38.p13 chr17 50149810 50149810 + C C A Missense_Mutation SNP ENST00000612501.2 exon1 c.G704T p.G235V exonic ENSG00000108819.11 . nonsynonymous SNV ENSG00000108819.11:ENST00000612501.2:exon1:c.G704T:p.G235V 17q21.33 C3L-00792 . . . . . . . . . 3.9 . T . . . . . . . 0.416 . . D . . 0.526 . D T T T . T 1.835 17.990 0.964 D N . . . . 1.000 0.288 0.098 0.254 0.144 . 4.220 3.240 0.273 0.858 0.498 0.981 0.039 0.781 833 . . . . PPP1R9B 35 0 25 3 0.107142857142857 TRUE NA +ENSG00000108848.16 . BCM GRCh38.p13 chr17 50737014 50737014 + C C G Missense_Mutation SNP ENST00000505658.6 exon2 c.C154G p.R52G exonic ENSG00000108848.16 . nonsynonymous SNV ENSG00000108848.16:ENST00000505658.6:exon2:c.C154G:p.R52G 17q21.33 C3L-00792 . . . . . . . . . 16.20 D D D D D D M T D 0.944 T T D 0.701 0.715 0.859 1.578 D T D D D D 4.438 31 0.999 D D 0.969 12.989 0.929 15.042 1.000 0.732 0.744 0.744 0.728 . 5.720 5.720 7.793 1.026 0.599 1.000 1.000 0.996 909 . . . . LUC7L3 191 0 52 17 0.246376811594203 TRUE TRUE +ENSG00000127666.9 . BCM GRCh38.p13 chr19 4817289 4817289 + - NA GGG In_Frame_Ins INS ENST00000248244.5 exon2 c.1088_1089insCCC p.P367_S368insP exonic ENSG00000127666.9 . nonframeshift insertion ENSG00000127666.9:ENST00000248244.5:exon2:c.1088_1089insCCC:p.P367_S368insP 19p13.3 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TICAM1 NA NA NA NA NA NA NA +ENSG00000131400.8 . BCM GRCh38.p13 chr19 50358644 50358644 + T T C Missense_Mutation SNP ENST00000253719.7 exon9 c.A1172G p.K391R exonic ENSG00000131400.8 . nonsynonymous SNV ENSG00000131400.8:ENST00000253719.7:exon9:c.A1172G:p.K391R 19q13.33 C3L-00792 . . . . . . . . . 0.20 T T B B N N N T N 0.083 T T T 0.010 0.474 0.197 0.133 T T T T T T 0.590 7.412 0.844 N N -1.100 0.306 -1.185 0.296 1.000 0.615 0.504 0.659 0.562 . 2.580 0.337 -0.561 0.105 0.366 0.000 0.000 0.005 645 Peptidase_family_A1_domain . . . NAPSA 204 0 166 41 0.198067632850242 TRUE TRUE +ENSG00000131409.13 . BCM GRCh38.p13 chr19 50519284 50519284 + G G T Missense_Mutation SNP ENST00000652263.1 exon3 c.C429A p.D143E exonic ENSG00000131409.13 . nonsynonymous SNV ENSG00000131409.13:ENST00000652263.1:exon3:c.C429A:p.D143E 19q13.33 C3L-00792 . . . . . . . . . 13.20 D D P B U D L D N 0.747 D D D 0.545 0.366 0.888 1.031 D T D T D D 3.023 23.500 0.997 D D 0.224 3.412 0.282 3.613 1.000 0.696 0.551 0.723 0.568 . 3.960 3.960 5.933 1.176 0.618 1.000 1.000 0.997 716 . . . . LRRC4B 316 0 202 55 0.214007782101167 TRUE NA +ENSG00000100220.12 . BCM GRCh38.p13 chr22 32392272 32392272 + G G A Missense_Mutation SNP ENST00000216038.6 exon11 c.C1378T p.R460C exonic ENSG00000100220.12 . nonsynonymous SNV ENSG00000100220.12:ENST00000216038.6:exon11:c.C1378T:p.R460C 22q12.3 C3L-00792 . . . . . . . . . 16.20 D D D D D D H T D 0.848 T T D 0.586 0.693 0.480 1.311 D T D D D D 4.543 32 0.999 D D 0.851 9.861 0.796 9.998 0.728 0.707 0.725 0.725 0.714 . 5.850 4.800 4.083 1.146 0.676 1.000 1.000 0.997 616 . . . . RTCB 96 0 54 16 0.228571428571429 TRUE TRUE +ENSG00000100351.17 . BCM GRCh38.p13 chr22 39960077 39960077 + C C T Nonsense_Mutation SNP ENST00000344138.9 exon4 c.C193T p.R65X exonic ENSG00000100351.17 . stopgain ENSG00000100351.17:ENST00000344138.9:exon4:c.C193T:p.R65X 22q13.1 C3L-00792 . . . . . . . . rs974232489 7.7 . . . . D D . . . 0.869 . . . . . . . . . D D D . 5.827 35 0.992 D D -0.218 1.826 -0.334 1.495 1.000 0.722 0.699 0.468 0.632 . 5.420 -0.903 2.582 0.102 -0.224 0.979 0.987 0.965 779 SH2_domain . . ID=COSV59995807;OCCURENCE=1(oesophagus) GRAP2 175 0 116 19 0.140740740740741 TRUE TRUE +ENSG00000198798.5 . BCM GRCh38.p13 chrX 30236393 30236398 + TCTTTC TCTTTC - In_Frame_Del DEL ENST00000361644.3 exon5 c.469_474del p.S157_F158del exonic ENSG00000198798.5 . nonframeshift deletion ENSG00000198798.5:ENST00000361644.3:exon5:c.469_474del:p.S157_F158del Xp21.2 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEB3 229 0 107 26 0.195488721804511 TRUE NA +ENSG00000198798.5 . BCM GRCh38.p13 chrX 30236399 30236399 + A A C Missense_Mutation SNP ENST00000361644.3 exon5 c.A475C p.N159H exonic ENSG00000198798.5 . nonsynonymous SNV ENSG00000198798.5:ENST00000361644.3:exon5:c.A475C:p.N159H Xp21.2 C3L-00792 . . . . . . . . . 0.19 T T B B U N N T N 0.111 T T T 0.043 0.437 0.168 0.126 T T T T T T -0.317 0.287 0.064 N . . . . . 0.000 . . . . . 3.900 1.360 0.503 0.251 0.756 0.000 0.000 0.038 789 MAGE_homology_domain . . . MAGEB3 223 0 110 26 0.191176470588235 NA TRUE +ENSG00000067445.21 . BCM GRCh38.p13 chrX 54923695 54923695 + C C T Missense_Mutation SNP ENST00000173898.12 exon3 c.C1163T p.A388V exonic ENSG00000067445.21 . nonsynonymous SNV ENSG00000067445.21:ENST00000173898.12:exon3:c.C1163T:p.A388V Xp11.21 C3L-00792 . . . . . . . . . 6.18 D T D D . D M T N 0.257 T T T 0.074 0.305 0.414 0.150 T T T T D T 3.120 23.700 0.999 N . . . . . 0.634 . . . . . 2.870 2.870 1.188 0.966 0.528 0.986 0.999 0.995 203 . . . . TRO 232 1 159 51 0.242857142857143 TRUE TRUE +ENSG00000180964.17 . BCM GRCh38.p13 chrX 103253698 103253698 + G G T Missense_Mutation SNP ENST00000372685.8 exon3 c.C282A p.N94K exonic ENSG00000180964.17 . nonsynonymous SNV ENSG00000180964.17:ENST00000372685.8:exon3:c.C282A:p.N94K Xq22.1 C3L-00792 . . . . . . . . . 8.19 T T D D D N M T D 0.297 T T D 0.127 0.562 0.118 1.162 D T T T D T 2.253 21.300 0.978 N . . . . . 1.000 . . . . . 4.520 0.801 0.035 1.176 0.676 0.998 1.000 1.000 272 . . . . TCEAL8 152 0 62 17 0.215189873417722 TRUE TRUE +ENSG00000115155.18 . BCM GRCh38.p13 chr2 26474512 26474512 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000115155.18 ENST00000272371.7:exon26:c.3288+1G>C . . 2p23.3 C3L-00792 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.122 33 0.995 D . 1.193 23.056 1.055 22.742 1.000 0.057 0.061 0.074 0.063 0.987 5.760 5.760 6.120 1.022 0.594 1.000 0.902 0.814 420 . . . . OTOF 297 0 295 91 0.235751295336788 TRUE TRUE +ENSG00000198947.15 . BCM GRCh38.p13 chrX 32809492 32809492 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000198947.15 ENST00000357033.8:exon7:c.649+1G>C . . Xp21.1 C3L-00792 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.498 34 0.995 D . . . . . 1.000 . . . . 0.966 5.170 5.170 7.561 1.026 0.549 1.000 1.000 0.988 924 . . . . DMD 348 0 203 40 0.164609053497942 TRUE TRUE +ENSG00000163357.11 . BCM GRCh38.p13 chr1 155034436 155034436 + G G A Silent SNP ENST00000295542.6 exon3 c.G63A p.T21T exonic ENSG00000163357.11 . synonymous SNV ENSG00000163357.11:ENST00000295542.6:exon3:c.G63A:p.T21T 1q21.3 C3L-00792 0.0002 0 0.0017 0 0 1.505e-05 0 0 rs746329748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCST1 468 0 298 61 0.16991643454039 TRUE NA +ENSG00000114127.10 . BCM GRCh38.p13 chr3 142421055 142421055 + T T C Silent SNP ENST00000264951.8 exon10 c.A1134G p.A378A exonic ENSG00000114127.10 . synonymous SNV ENSG00000114127.10:ENST00000264951.8:exon10:c.A1134G:p.A378A 3q23 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XRN1 321 0 164 56 0.254545454545455 TRUE TRUE +ENSG00000164256.11 . BCM GRCh38.p13 chr5 23527221 23527221 + G G A Silent SNP ENST00000296682.4 exon11 c.G2133A p.Q711Q exonic ENSG00000164256.11 . synonymous SNV ENSG00000164256.11:ENST00000296682.4:exon11:c.G2133A:p.Q711Q 5p14.2 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM9 165 0 232 37 0.137546468401487 NA TRUE +ENSG00000056972.20 . BCM GRCh38.p13 chr6 111591766 111591766 + A A C Silent SNP ENST00000340026.10 exon3 c.T348G p.P116P exonic ENSG00000056972.20 . synonymous SNV ENSG00000056972.20:ENST00000340026.10:exon3:c.T348G:p.P116P 6q21 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAF3IP2 287 0 153 46 0.231155778894472 TRUE TRUE +ENSG00000169876.14 . BCM GRCh38.p13 chr7 101043566 101043566 + A A G Silent SNP ENST00000306151.9 exon3 c.A12150G p.E4050E exonic ENSG00000169876.14 . synonymous SNV ENSG00000169876.14:ENST00000306151.9:exon3:c.A12150G:p.E4050E 7q22.1 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC17 227 0 154 41 0.21025641025641 TRUE TRUE +ENSG00000042980.13 . BCM GRCh38.p13 chr8 24310163 24310163 + G G A Silent SNP ENST00000265769.9 exon4 c.G228A p.K76K exonic ENSG00000042980.13 . synonymous SNV ENSG00000042980.13:ENST00000265769.9:exon4:c.G228A:p.K76K 8p21.2 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56098833;OCCURENCE=1(skin) ADAM28 158 0 71 4 0.0533333333333333 NA TRUE +ENSG00000171045.16 . BCM GRCh38.p13 chr8 142318607 142318607 + C C T Silent SNP ENST00000524325.6 exon7 c.G921A p.K307K exonic ENSG00000171045.16 . synonymous SNV ENSG00000171045.16:ENST00000524325.6:exon7:c.G921A:p.K307K 8q24.3 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSNARE1 233 0 175 22 0.111675126903553 TRUE TRUE +ENSG00000080608.10 . BCM GRCh38.p13 chr9 2829855 2829855 + G G A Silent SNP ENST00000397885.3 exon8 c.C771T p.Y257Y exonic ENSG00000080608.10 . synonymous SNV ENSG00000080608.10:ENST00000397885.3:exon8:c.C771T:p.Y257Y 9p24.2 C3L-00792 5.766e-05 0.0003 8.637e-05 0 0 1.499e-05 0.0011 6.058e-05 rs139189443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67395982;OCCURENCE=1(large_intestine) PUM3 147 0 97 15 0.133928571428571 TRUE TRUE +ENSG00000148120.16 . BCM GRCh38.p13 chr9 94759972 94759972 + C C T Silent SNP ENST00000375315.6 exon1 c.C189T p.A63A exonic ENSG00000148120.16 . synonymous SNV ENSG00000148120.16:ENST00000375315.6:exon1:c.C189T:p.A63A 9q22.32 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AOPEP 244 0 135 33 0.196428571428571 TRUE TRUE +ENSG00000172489.6 . BCM GRCh38.p13 chr11 56253102 56253102 + C C T Silent SNP ENST00000303059.3 exon1 c.C903T p.D301D exonic ENSG00000172489.6 . synonymous SNV ENSG00000172489.6:ENST00000303059.3:exon1:c.C903T:p.D301D 11q12.1 C3L-00792 8.258e-06 0 0 0 0 0 0 6.069e-05 rs770052462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5T3 135 0 37 5 0.119047619047619 TRUE NA +ENSG00000181333.12 . BCM GRCh38.p13 chr11 94045775 94045775 + C C A Silent SNP ENST00000315765.10 exon2 c.C273A p.I91I exonic ENSG00000181333.12 . synonymous SNV ENSG00000181333.12:ENST00000315765.10:exon2:c.C273A:p.I91I 11q21 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HEPHL1 411 1 250 51 0.169435215946844 TRUE TRUE +ENSG00000080854.15 . BCM GRCh38.p13 chr11 133929712 133929712 + T T C Silent SNP ENST00000321016.12 exon12 c.A1590G p.E530E exonic ENSG00000080854.15 . synonymous SNV ENSG00000080854.15:ENST00000321016.12:exon12:c.A1590G:p.E530E 11q25 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF9B 235 0 161 40 0.199004975124378 TRUE TRUE +ENSG00000111481.10 . BCM GRCh38.p13 chr12 54347842 54347842 + A A T Silent SNP ENST00000262061.7 exon6 c.A393T p.G131G exonic ENSG00000111481.10 . synonymous SNV ENSG00000111481.10:ENST00000262061.7:exon6:c.A393T:p.G131G 12q13.13 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COPZ1 112 0 52 16 0.235294117647059 TRUE TRUE +ENSG00000108342.13 . BCM GRCh38.p13 chr17 40016544 40016544 + C C T Silent SNP ENST00000225474.6 exon4 c.C372T p.A124A exonic ENSG00000108342.13 . synonymous SNV ENSG00000108342.13:ENST00000225474.6:exon4:c.C372T:p.A124A 17q21.1 C3L-00792 8.275e-06 0 0 0 0 1.506e-05 0 0 rs769044135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSF3 291 0 181 25 0.121359223300971 TRUE NA +ENSG00000241595.2 . BCM GRCh38.p13 chr17 41249795 41249795 + G G A Silent SNP ENST00000334109.3 exon1 c.G75A p.K25K exonic ENSG00000241595.2 . synonymous SNV ENSG00000241595.2:ENST00000334109.3:exon1:c.G75A:p.K25K 17q21.2 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRTAP9-4 368 1 227 52 0.186379928315412 NA TRUE +ENSG00000181408.3 . BCM GRCh38.p13 chr17 82374342 82374342 + G G A Silent SNP ENST00000313135.3 exon1 c.G18A p.E6E exonic ENSG00000181408.3 . synonymous SNV ENSG00000181408.3:ENST00000313135.3:exon1:c.G18A:p.E6E 17q25.3 C3L-00792 1.98e-05 0 0 0 0 3.406e-05 0 0 rs757493964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTS2R 61 0 31 10 0.24390243902439 TRUE NA +ENSG00000123572.17 . BCM GRCh38.p13 chrX 105934410 105934410 + G G A Silent SNP ENST00000243300.14 exon20 c.G3465A p.G1155G exonic ENSG00000123572.17 . synonymous SNV ENSG00000123572.17:ENST00000243300.14:exon20:c.G3465A:p.G1155G Xq22.3 C3L-00792 1.181e-05 0 0 0.0002 0 0 0 0 rs770125167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54596902;OCCURENCE=1(skin) NRK 101 0 58 25 0.301204819277108 TRUE TRUE +ENSG00000176998.4 . BCM GRCh38.p13 chr6 29792449 29792449 + - NA A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000176998.4;ENSG00000181126.13 . . . 6p22.1 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HCG4 NA NA NA NA NA NA NA +ENSG00000176406.23 . BCM GRCh38.p13 chr8 104223668 104223668 + - NA G Intron SNP NA NA NA NA intronic ENSG00000176406.23 . . . 8q22.3 C3L-00792 0.0004 0.0003 0.0004 0.0019 0 0.0002 0 0.0005 rs567070433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RIMS2 NA NA NA NA NA NA NA +ENSG00000186260.17 . BCM GRCh38.p13 chr16 14186969 14186969 + G G - Intron SNP NA NA NA NA intronic ENSG00000186260.17 . . . 16p13.12 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRTFB 302 0 131 51 0.28021978021978 TRUE NA +ENSG00000092929.11 . BCM GRCh38.p13 chr17 75832960 75832960 + A A G Intron SNP NA NA NA NA intronic ENSG00000092929.11 . . . 17q25.1 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13D 182 0 94 31 0.248 TRUE NA +ENSG00000163632.14 . BCM GRCh38.p13 chr3 63823386 63823387 + AC AC TT Unknown MNP ENST00000295896.13 exon2 c.262_263delinsTT p.T88F exonic ENSG00000163632.14 . nonframeshift substitution ENSG00000163632.14:ENST00000295896.13:exon2:c.262_263delinsTT:p.T88F 3p14.1 C3L-00792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C3orf49 420 40 122 41 0.251533742331288 TRUE NA +ENSG00000162496.9 . BCM GRCh38.p13 chr1 12580557 12580557 + T T C Missense_Mutation SNP ENST00000616661.5 exon2 c.A305G p.E102G exonic ENSG00000162496.9 . nonsynonymous SNV ENSG00000162496.9:ENST00000616661.5:exon2:c.A305G:p.E102G 1p36.21 C3L-00796 . . . . . . . . . 17.20 D D D D D D L T D 0.804 D D D 0.732 0.566 0.597 . T D D D D D 4.875 33 0.999 D D 0.598 5.908 0.635 6.690 1.000 0.707 0.670 0.725 0.714 . 5.430 5.430 7.674 1.138 0.665 1.000 1.000 0.999 538 . . . . DHRS3 445 0 240 85 0.261538461538462 TRUE TRUE +ENSG00000088280.19 . BCM GRCh38.p13 chr1 23484063 23484063 + G G A Missense_Mutation SNP ENST00000336689.8 exon1 c.C71T p.A24V exonic ENSG00000088280.19 . nonsynonymous SNV ENSG00000088280.19:ENST00000336689.8:exon1:c.C71T:p.A24V 1p36.12 C3L-00796 . . . . . . . . . 6.19 D D B B U N L T N 0.291 T T D 0.111 0.323 0.602 2.102 D T T T D . 2.704 22.800 0.960 D N -0.199 1.878 -0.126 1.976 1.000 0.437 0.607 0.522 0.492 . 4.000 2.970 1.023 0.869 0.441 0.852 0.028 0.024 352 . . . . ASAP3 34 0 25 6 0.193548387096774 NA TRUE +ENSG00000134686.18 . BCM GRCh38.p13 chr1 33372329 33372329 + A A G Missense_Mutation SNP ENST00000257118.5 exon2 c.T293C p.L98P exonic ENSG00000134686.18 . nonsynonymous SNV ENSG00000134686.18:ENST00000257118.5:exon2:c.T293C:p.L98P 1p35.1 C3L-00796 . . . . . . . . . 15.20 D D D D D D M T D 0.819 T T D 0.329 0.264 0.649 1.600 D T D T D D 4.376 31 0.999 D D 0.773 8.269 0.731 8.383 1.000 0.554 0.590 0.608 0.568 . 5.190 5.190 8.322 1.312 0.756 1.000 1.000 0.950 263 . . . . PHC2 76 0 40 3 0.0697674418604651 TRUE TRUE +ENSG00000116641.18 . BCM GRCh38.p13 chr1 62474066 62474066 + A A G Missense_Mutation SNP ENST00000635253.2 exon48 c.T6128C p.V2043A exonic ENSG00000116641.18 . nonsynonymous SNV ENSG00000116641.18:ENST00000635253.2:exon48:c.T6128C:p.V2043A 1p31.3 C3L-00796 . . . . . . . . . 10.20 D D B P D D N T D 0.800 T T T 0.226 0.580 0.614 0.861 D T T T D D 3.926 26.500 0.998 D D 0.186 3.242 0.368 4.141 1.000 0.706 0.709 0.710 0.714 . 5.620 5.620 9.268 1.312 0.756 1.000 0.996 0.991 866 DHR-2_domain;Dedicator_of_cytokinesis,_C-terminal . . . DOCK7 182 0 114 43 0.273885350318471 TRUE TRUE +ENSG00000116729.14 . BCM GRCh38.p13 chr1 68126227 68126227 + T T C Nonstop_Mutation SNP ENST00000262348.9 exon12 c.A1625G p.X542W exonic ENSG00000116729.14 . stoploss ENSG00000116729.14:ENST00000262348.9:exon12:c.A1625G:p.X542W 1p31.3 C3L-00796 . . . . . . . . . 2.4 . . . . . D . . . 0.253 . . . . . . . . . T T . . 2.442 22.300 0.873 D . 0.405 4.372 0.510 5.255 1.000 0.295 0.061 0.175 0.323 0.978 6.160 6.160 3.720 1.138 0.665 1.000 0.991 0.991 871 . . . . WLS 163 0 111 42 0.274509803921569 TRUE TRUE +ENSG00000132688.11 . BCM GRCh38.p13 chr1 156676649 156676649 + G G A Nonsense_Mutation SNP ENST00000368223.4 exon1 c.C616T p.Q206X exonic ENSG00000132688.11 . stopgain ENSG00000132688.11:ENST00000368223.4:exon1:c.C616T:p.Q206X 1q23.1 C3L-00796 . . . . . . . . . 4.6 . . . . N A . . . 0.759 . . . . . . . . . D D . . 7.231 37 0.998 D N 0.773 8.282 0.584 6.026 1.000 0.733 0.563 0.686 0.622 . 4.410 3.480 3.043 1.097 0.588 1.000 1.000 0.976 730 Intermediate_filament,_rod_domain . . . NES 100 0 29 16 0.355555555555556 TRUE TRUE +ENSG00000143514.17 . BCM GRCh38.p13 chr1 223802768 223802768 + T T C Missense_Mutation SNP ENST00000343537.12 exon8 c.A959G p.K320R exonic ENSG00000143514.17 . nonsynonymous SNV ENSG00000143514.17:ENST00000343537.12:exon8:c.A959G:p.K320R 1q41 C3L-00796 . . . . . . . . . 6.16 T T . . D D . T N 0.636 T T T 0.091 . 0.859 0.635 T . T T D D 3.647 25.200 0.999 D D 0.640 6.358 0.650 6.906 1.000 0.707 0.654 0.725 0.714 . 5.560 5.560 6.138 1.138 0.665 1.000 1.000 1.000 869 . . . . TP53BP2 158 0 114 55 0.325443786982249 TRUE NA +ENSG00000158417.11 . BCM GRCh38.p13 chr2 99363709 99363709 + A A C Missense_Mutation SNP ENST00000289371.11 exon5 c.A984C p.K328N exonic ENSG00000158417.11 . nonsynonymous SNV ENSG00000158417.11:ENST00000289371.11:exon5:c.A984C:p.K328N 2q11.2 C3L-00796 . . . . . . . . . 7.19 D D P P . D L T N 0.466 T T T 0.098 0.210 0.493 0.181 D T T T T D 3.128 23.700 0.996 D D 0.148 3.081 0.141 2.909 0.117 0.707 0.725 0.725 0.714 . 5.750 1.700 1.095 0.315 0.756 1.000 0.998 0.998 482 . . . . EIF5B 128 1 84 37 0.305785123966942 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52407244 52407244 + A A C Missense_Mutation SNP ENST00000460680.6 exon7 c.T510G p.F170L exonic ENSG00000163930.10 . nonsynonymous SNV ENSG00000163930.10:ENST00000460680.6:exon7:c.T510G:p.F170L 3p21.1 C3L-00796 . . . . . . . . . 19.20 D D D D D D H T D 0.925 D D D 0.778 0.830 0.811 2.693 D D D D D D 3.208 23.900 0.998 D D 0.585 5.770 0.451 4.739 1.000 0.707 0.698 0.725 0.714 . 5.950 2.090 0.647 1.312 0.756 0.994 1.000 0.999 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . . BAP1 549 0 245 88 0.264264264264264 TRUE TRUE +ENSG00000206384.10 . BCM GRCh38.p13 chr3 130589115 130589115 + G G T Missense_Mutation SNP ENST00000358511.10 exon11 c.G4151T p.C1384F exonic ENSG00000206384.10 . nonsynonymous SNV ENSG00000206384.10:ENST00000358511.10:exon11:c.G4151T:p.C1384F 3q22.1 C3L-00796 . . . . . . . . . 18.20 D D D D D D M D D 0.764 D D D 0.707 0.505 0.721 0.440 T T D D D D 4.369 31 0.991 D D 0.691 6.996 0.692 7.604 0.984 0.487 0.547 0.574 0.564 . 5.800 5.800 5.683 1.176 0.676 1.000 1.000 0.998 520 . . . . COL6A6 221 0 169 15 0.0815217391304348 TRUE TRUE +ENSG00000169251.12 . BCM GRCh38.p13 chr3 161247313 161247313 + G G C Missense_Mutation SNP ENST00000460469.1 exon12 c.G1186C p.D396H exonic ENSG00000169251.12 . nonsynonymous SNV ENSG00000169251.12:ENST00000460469.1:exon12:c.G1186C:p.D396H 3q26.1 C3L-00796 . . . . . . . . . 5.20 T T B B D D L T N 0.249 T T T 0.060 0.381 0.318 0.090 T T T T D D 2.650 22.700 0.922 D N -0.118 2.119 0.079 2.650 0.990 0.732 0.744 0.725 0.728 . 4.810 3.920 4.794 1.155 0.671 1.000 0.989 0.996 772 . . . ID=COSV63618086;OCCURENCE=1(lung) NMD3 95 0 47 11 0.189655172413793 TRUE TRUE +ENSG00000150471.16 . BCM GRCh38.p13 chr4 61892739 61892739 + A A G Missense_Mutation SNP ENST00000506720.5 exon8 c.A1564G p.S522G exonic ENSG00000150471.16 . nonsynonymous SNV ENSG00000150471.16:ENST00000506720.5:exon8:c.A1564G:p.S522G 4q13.1 C3L-00796 . . . . . . . . rs1002460440 2.19 T T B B N N . T N 0.323 T T T 0.090 . 0.247 0.269 T T T T T D 1.915 18.610 0.991 D N -0.368 1.454 -0.239 1.694 0.000 0.615 0.574 0.659 0.564 . 5.830 4.670 2.415 1.312 0.756 0.992 0.079 0.082 982 . . . . ADGRL3 281 0 162 41 0.201970443349754 TRUE NA +ENSG00000138686.10 . BCM GRCh38.p13 chr4 121853032 121853032 + A A G Missense_Mutation SNP ENST00000264499.9 exon8 c.T773C p.L258P exonic ENSG00000138686.10 . nonsynonymous SNV ENSG00000138686.10:ENST00000264499.9:exon8:c.T773C:p.L258P 4q27 C3L-00796 . . . . . . . . . 19.20 D D D D D D M D D 0.979 D D D 0.939 0.645 0.976 0.895 T D D D D D 4.255 29.200 0.999 D D 0.846 9.742 0.802 10.177 1.000 0.706 0.634 0.710 0.613 . 5.260 5.260 9.021 1.312 0.691 1.000 0.999 0.998 838 . . . . BBS7 282 0 156 53 0.253588516746411 TRUE TRUE +ENSG00000138688.15 . BCM GRCh38.p13 chr4 122334453 122334453 + G G A Missense_Mutation SNP ENST00000264501.8 exon69 c.G11756A p.S3919N exonic ENSG00000138688.15 . nonsynonymous SNV ENSG00000138688.15:ENST00000264501.8:exon69:c.G11756A:p.S3919N 4q27 C3L-00796 8.305e-06 0 0 0 0 1.502e-05 0 0 rs774701020 2.20 T D B B N N N T N 0.121 T T T 0.084 0.162 0.217 0.598 T T T T T T 1.614 16.460 0.974 D N -0.472 1.232 -0.329 1.507 0.676 0.554 0.588 0.602 0.492 . 5.340 0.816 0.881 1.176 0.676 1.000 0.999 0.997 883 . . . . KIAA1109 405 0 255 86 0.252199413489736 TRUE NA +ENSG00000171560.16 . BCM GRCh38.p13 chr4 154584311 154584311 + C C T Missense_Mutation SNP ENST00000651975.1 exon6 c.G2414A p.G805E exonic ENSG00000171560.16 . nonsynonymous SNV ENSG00000171560.16:ENST00000651975.1:exon6:c.G2414A:p.G805E 4q31.3 C3L-00796 . . . . . . . . . 19.20 D D D D D D H D D 0.753 D D D 0.873 0.750 0.989 0.421 T D D D D D 3.686 25.400 0.998 D D 0.882 10.596 0.763 9.123 1.000 0.487 0.574 0.574 0.564 . 5.850 4.990 4.965 1.026 0.599 1.000 0.922 0.975 798 Fibrinogen,_alpha/beta/gamma_chain,_C-terminal_globular_domain . . . FGA 133 0 97 39 0.286764705882353 TRUE TRUE +ENSG00000164128.7 . BCM GRCh38.p13 chr4 163326545 163326545 + T T C Missense_Mutation SNP ENST00000296533.3 exon2 c.A10G p.T4A exonic ENSG00000164128.7 . nonsynonymous SNV ENSG00000164128.7:ENST00000296533.3:exon2:c.A10G:p.T4A 4q32.2 C3L-00796 . . . . . . . . . 4.20 D T B B N D N T D 0.120 T T T 0.108 . 0.651 0.626 T T T T T T 2.003 19.280 0.815 D N -0.137 2.059 0.075 2.632 0.023 0.554 0.574 0.618 0.564 . 5.550 5.550 1.291 1.138 0.665 0.990 1.000 1.000 988 . . . . NPY1R 62 0 27 11 0.289473684210526 TRUE NA +ENSG00000133401.16 . BCM GRCh38.p13 chr5 32089380 32089380 + A A T Missense_Mutation SNP ENST00000438447.2 exon20 c.A5932T p.S1978C exonic ENSG00000133401.16 . nonsynonymous SNV ENSG00000133401.16:ENST00000438447.2:exon20:c.A5932T:p.S1978C 5p13.3 C3L-00796 . . . . . . . . . 4.20 D D D P N N L T N 0.311 T T T 0.024 0.180 0.159 0.587 T T T T D T 2.277 21.400 0.981 N N -0.147 2.031 -0.355 1.456 1.000 0.615 0.514 0.616 0.568 . 4.200 0.477 0.680 0.094 0.756 0.631 0.015 0.131 684 . . . . PDZD2 250 0 138 64 0.316831683168317 TRUE TRUE +ENSG00000205838.14 . BCM GRCh38.p13 chr5 34850267 34850267 + G G C Missense_Mutation SNP ENST00000505624.5 exon4 c.G338C p.R113P exonic ENSG00000205838.14 . nonsynonymous SNV ENSG00000205838.14:ENST00000505624.5:exon4:c.G338C:p.R113P 5p13.2 C3L-00796 . . . . . . . . . 4.20 D D B B D N N T N 0.462 T T T 0.221 0.508 0.317 0.177 T T T T D T 1.354 14.770 0.830 N N -1.054 0.349 -0.908 0.609 0.935 0.554 0.547 0.602 0.530 . 4.840 1.110 1.564 -0.922 -2.438 1.000 0.840 0.092 702 . . . . TTC23L 294 0 174 49 0.219730941704036 TRUE TRUE +ENSG00000067248.10 . BCM GRCh38.p13 chr5 55283630 55283630 + T T G Missense_Mutation SNP ENST00000251636.10 exon11 c.A1538C p.K513T exonic ENSG00000067248.10 . nonsynonymous SNV ENSG00000067248.10:ENST00000251636.10:exon11:c.A1538C:p.K513T 5q11.2 C3L-00796 . . . . . . . . . 1.20 T T B B N N L T N 0.238 T T T 0.033 0.252 0.399 0.297 T T T T T T 1.556 16.090 0.981 D N -0.569 1.045 -0.420 1.337 0.028 0.732 0.654 0.744 0.714 . 5.410 4.230 1.693 1.020 0.609 0.323 0.990 0.990 491 . . . . DHX29 186 0 116 41 0.261146496815287 TRUE TRUE +ENSG00000205302.7 . BCM GRCh38.p13 chr5 122802113 122802113 + G G A Missense_Mutation SNP ENST00000379516.7 exon5 c.G490A p.V164I exonic ENSG00000205302.7 . nonsynonymous SNV ENSG00000205302.7:ENST00000379516.7:exon5:c.G490A:p.V164I 5q23.2 C3L-00796 . . . . . . . . . 8.20 D D B P D D L T N 0.609 T T T 0.175 0.629 0.437 0.657 T T T T D D 2.838 23.100 0.998 D D 0.401 4.347 0.545 5.593 1.000 0.706 0.725 0.710 0.714 . 5.510 5.510 9.585 1.176 0.676 1.000 1.000 0.997 687 SNX2,_PX_domain;Phox_homologous_domain . . . SNX2 158 0 68 27 0.284210526315789 TRUE TRUE +ENSG00000125347.14 . BCM GRCh38.p13 chr5 132484422 132484422 + G G T Missense_Mutation SNP ENST00000245414.9 exon9 c.C793A p.P265T exonic ENSG00000125347.14 . nonsynonymous SNV ENSG00000125347.14:ENST00000245414.9:exon9:c.C793A:p.P265T 5q31.1 C3L-00796 . . . . . . . . . 3.20 T T B B N N M T N 0.256 T T T 0.071 0.409 0.742 0.811 T T T T D T 1.622 16.510 0.924 D N -0.498 1.180 -0.439 1.303 1.000 0.707 0.672 0.609 0.714 . 5.670 1.590 1.078 1.176 0.676 0.998 0.892 0.988 770 Interferon_regulatory_factor_DNA-binding_domain . . . IRF1 166 0 168 47 0.218604651162791 TRUE TRUE +ENSG00000182578.13 . BCM GRCh38.p13 chr5 150056279 150056279 + A A C Missense_Mutation SNP ENST00000286301.7 exon18 c.T2382G p.I794M exonic ENSG00000182578.13 . nonsynonymous SNV ENSG00000182578.13:ENST00000286301.7:exon18:c.T2382G:p.I794M 5q32 C3L-00796 . . . . . . . . . 19.20 D D D D D D M D D 0.930 D D D 0.894 0.904 0.983 2.979 T D D D D D 3.267 24.000 0.996 D D 0.481 4.889 0.366 4.127 0.978 0.716 0.601 0.600 0.711 . 5.030 2.630 1.872 0.323 0.756 1.000 1.000 0.980 596 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . CSF1R 238 0 244 44 0.152777777777778 TRUE TRUE +ENSG00000170214.5 . BCM GRCh38.p13 chr5 159917381 159917381 + G G A Missense_Mutation SNP ENST00000306675.5 exon1 c.G476A p.R159Q exonic ENSG00000170214.5 . nonsynonymous SNV ENSG00000170214.5:ENST00000306675.5:exon1:c.G476A:p.R159Q 5q33.3 C3L-00796 8.24e-06 0 0 0 0 1.499e-05 0 0 rs747586034 6.20 T T P B D D L T N 0.337 T T T 0.117 0.579 0.614 1.235 T T T T D D 3.078 23.600 0.987 D D 0.131 3.009 0.304 3.738 1.000 0.447 0.563 0.616 0.530 . 5.670 5.670 5.661 1.172 0.672 1.000 0.987 0.958 923 GPCR,_rhodopsin-like,_7TM . . . ADRA1B 209 1 178 52 0.226086956521739 TRUE NA +ENSG00000113763.12 . BCM GRCh38.p13 chr5 176879397 176879405 + CTCATTCGG CTCATTCGG - In_Frame_Del DEL ENST00000329542.9 exon14 c.2272_2280del p.L758_R760del exonic ENSG00000113763.12 . nonframeshift deletion ENSG00000113763.12:ENST00000329542.9:exon14:c.2272_2280del:p.L758_R760del 5q35.2 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC5A 187 0 111 11 0.0901639344262295 TRUE TRUE +ENSG00000112249.14 . BCM GRCh38.p13 chr6 100662451 100662451 + C C G Missense_Mutation SNP ENST00000369162.7 exon15 c.G2372C p.R791T exonic ENSG00000112249.14 . nonsynonymous SNV ENSG00000112249.14:ENST00000369162.7:exon15:c.G2372C:p.R791T 6q16.3 C3L-00796 . . . . . . . . . 19.20 D D D D D D H D D 0.972 D D D 0.972 0.889 0.807 1.096 T D D D D D 3.815 25.900 0.986 D D 1.108 17.872 1.006 19.211 1.000 0.732 0.744 0.710 0.613 . 5.520 5.520 7.905 1.026 0.599 1.000 1.000 0.997 847 Helicase,_C-terminal . . . ASCC3 230 0 131 45 0.255681818181818 TRUE TRUE +ENSG00000219545.11 . BCM GRCh38.p13 chr7 7877374 7877374 + G G C Missense_Mutation SNP ENST00000636849.1 exon4 c.G250C p.E84Q exonic ENSG00000219545.11 . nonsynonymous SNV ENSG00000219545.11:ENST00000636849.1:exon4:c.G250C:p.E84Q 7p21.3 C3L-00796 . . . . . . . . rs768967798 4.6 . . . . . . . . . . T D T 0.162 . . . . . . . . D 3.941 26.600 0.998 D D 0.758 8.007 0.759 9.014 1.000 0.693 0.670 0.659 0.668 . 5.760 5.760 7.933 1.176 0.618 1.000 0.817 0.678 945 . . . . UMAD1 406 0 227 82 0.26537216828479 TRUE NA +ENSG00000105866.15 . BCM GRCh38.p13 chr7 21430496 21430501 + TTCAAC TTCAAC - In_Frame_Del DEL ENST00000222584.8 exon3 c.1331_1336del p.L446_Q447del exonic ENSG00000105866.15 . nonframeshift deletion ENSG00000105866.15:ENST00000222584.8:exon3:c.1331_1336del:p.L446_Q447del 7p15.3 C3L-00796 8.236e-06 0 0 0 0 1.498e-05 0 0 rs773045711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SP4 259 0 140 65 0.317073170731707 TRUE NA +ENSG00000135211.6 . BCM GRCh38.p13 chr7 77794190 77794190 + - NA A Nonsense_Mutation SNP ENST00000257663.4 exon2 c.183dupT p.K62* exonic ENSG00000135211.6 . stopgain ENSG00000135211.6:ENST00000257663.4:exon2:c.183dupT:p.K62* 7q11.23 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM60 NA NA NA NA NA NA NA +ENSG00000106477.19 . BCM GRCh38.p13 chr7 130440966 130440966 + T T C Translation_Start_Site SNP ENST00000223208.10 exon1 c.A1G p.M1? exonic ENSG00000106477.19 . startloss ENSG00000106477.19:ENST00000223208.10:exon1:c.A1G:p.M1? 7q32.2 C3L-00796 . . . . . . . . . 14.18 D D B B D D . D D 0.948 D D D 0.725 0.993 0.936 . . T D D D D 2.930 23.300 0.992 D N 0.213 3.363 0.331 3.905 1.000 0.442 0.522 0.520 0.562 . 5.640 5.640 3.754 1.066 0.580 1.000 1.000 0.994 854 . . . . CEP41 681 0 411 141 0.255434782608696 TRUE TRUE +ENSG00000104763.19 . BCM GRCh38.p13 chr8 18057614 18057614 + A A G Missense_Mutation SNP ENST00000637790.2 exon14 c.T1108C p.Y370H exonic ENSG00000104763.19 . nonsynonymous SNV ENSG00000104763.19:ENST00000637790.2:exon14:c.T1108C:p.Y370H 8p22 C3L-00796 . . . . . . . . . 9.20 D T B B N N L D D 0.180 D D T 0.440 0.845 0.879 0.003 T D T T D T 2.874 23.200 0.991 D D 0.005 2.530 0.069 2.611 1.000 0.706 0.725 0.710 0.668 . 5.540 5.540 6.859 1.312 0.756 1.000 0.846 0.433 923 Choloylglycine_hydrolase/NAAA_C-terminal . . . ASAH1 428 0 255 107 0.295580110497238 TRUE TRUE +ENSG00000156675.16 . BCM GRCh38.p13 chr8 37872929 37872929 + A A C Missense_Mutation SNP ENST00000330843.9 exon4 c.T1873G p.S625A exonic ENSG00000156675.16 . nonsynonymous SNV ENSG00000156675.16:ENST00000330843.9:exon4:c.T1873G:p.S625A 8p11.23 C3L-00796 . . . . . . . . . 0.20 T T B B N N L T N 0.076 T T T 0.019 0.135 0.224 0.061 T T T T T T 0.277 4.023 0.758 N N -1.449 0.098 -1.455 0.126 1.000 0.566 0.616 0.679 0.568 . 5.080 -2.100 0.126 -0.525 -0.050 0.037 0.006 0.013 799 . . . . RAB11FIP1 250 0 152 45 0.228426395939086 TRUE TRUE +ENSG00000147488.11 . BCM GRCh38.p13 chr8 52161404 52161404 + T T A Missense_Mutation SNP ENST00000276480.11 exon14 c.A1565T p.Q522L exonic ENSG00000147488.11 . nonsynonymous SNV ENSG00000147488.11:ENST00000276480.11:exon14:c.A1565T:p.Q522L 8q11.23 C3L-00796 . . . . . . . . . 8.20 D T B B N D M T D 0.311 T T D 0.159 0.665 0.168 0.094 T T T T D T 3.160 23.800 0.990 D D 0.096 2.869 0.196 3.163 0.028 0.487 0.574 0.547 0.564 . 5.340 4.100 2.941 0.201 0.665 1.000 0.996 0.943 929 Myelin_transcription_factor_1 . . . ST18 90 0 72 31 0.300970873786408 TRUE TRUE +ENSG00000165119.21 . BCM GRCh38.p13 chr9 83971332 83971332 + A A T Missense_Mutation SNP ENST00000351839.7 exon12 c.T1033A p.W345R exonic ENSG00000165119.21 . nonsynonymous SNV ENSG00000165119.21:ENST00000351839.7:exon12:c.T1033A:p.W345R 9q21.32 C3L-00796 . . . . . . . . . 8.20 D T P B N N M T D 0.689 T T T 0.181 0.632 0.637 1.882 D T T T D D 2.893 23.200 0.965 D D -0.007 2.487 0.150 2.951 1.000 0.672 0.702 0.702 0.711 . 5.170 5.170 4.031 1.302 0.747 1.000 1.000 0.999 975 . . . . HNRNPK 148 0 100 37 0.27007299270073 TRUE TRUE +ENSG00000106853.20 . BCM GRCh38.p13 chr9 111592926 111592926 + T T C Missense_Mutation SNP ENST00000407693.7 exon4 c.A209G p.K70R exonic ENSG00000106853.20 . nonsynonymous SNV ENSG00000106853.20:ENST00000407693.7:exon4:c.A209G:p.K70R 9q31.3 C3L-00796 . . . . . . . . . 1.20 T T B B N D N T N 0.173 T T T 0.115 0.585 0.530 0.076 T T T T T T 0.978 11.340 0.870 N N -0.811 0.639 -0.520 1.169 0.928 0.732 0.670 0.744 0.711 . 4.940 4.050 1.659 -0.237 -0.818 1.000 0.974 0.928 771 Polyketide_synthase,_enoylreductase_domain . . . PTGR1 196 0 190 10 0.05 TRUE TRUE +ENSG00000148344.11 . BCM GRCh38.p13 chr9 129748659 129748659 + G G - Frame_Shift_Del DEL ENST00000340607.5 exon2 c.205delC p.L69Sfs*60 exonic ENSG00000148344.11 . frameshift deletion ENSG00000148344.11:ENST00000340607.5:exon2:c.205delC:p.L69Sfs*60 9q34.11 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTGES 89 0 29 9 0.236842105263158 TRUE TRUE +ENSG00000204010.3 . BCM GRCh38.p13 chr10 89383834 89383834 + A A G Missense_Mutation SNP ENST00000371809.3 exon2 c.A521G p.N174S exonic ENSG00000204010.3 . nonsynonymous SNV ENSG00000204010.3:ENST00000371809.3:exon2:c.A521G:p.N174S 10q23.31 C3L-00796 . . . . . . . . . 12.20 D D D D U D M T D 0.250 T T D 0.320 0.586 0.694 0.199 T T T T D D 2.643 22.700 0.998 D D 0.494 4.987 0.367 4.132 1.000 0.447 0.547 0.547 0.530 . 4.580 4.580 4.819 1.181 0.654 1.000 0.829 0.265 883 Tetratricopeptide_repeat-containing_domain . . . IFIT1B 144 0 109 45 0.292207792207792 TRUE TRUE +ENSG00000006118.14 . BCM GRCh38.p13 chr11 60930654 60930654 + T T - Frame_Shift_Del DEL ENST00000453848.6 exon5 c.1011delT p.S338Pfs*24 exonic ENSG00000006118.14 . frameshift deletion ENSG00000006118.14:ENST00000453848.6:exon5:c.1011delT:p.S338Pfs*24 11q12.2 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM132A 84 0 42 27 0.391304347826087 TRUE TRUE +ENSG00000084112.15 . BCM GRCh38.p13 chr12 108788544 108788544 + A A T Missense_Mutation SNP ENST00000326495.10 exon15 c.T2594A p.L865H exonic ENSG00000084112.15 . nonsynonymous SNV ENSG00000084112.15:ENST00000326495.10:exon15:c.T2594A:p.L865H 12q24.11 C3L-00796 . . . . . . . . . 0.20 T T B B N N N T N 0.058 T T T 0.006 0.277 0.068 0.308 T T T T T T -0.591 0.076 0.217 N N -1.797 0.024 -1.901 0.022 1.000 0.672 0.702 0.616 0.636 . 3.940 -7.880 -1.774 -0.163 -0.041 0.000 0.000 0.001 872 . . . . SSH1 42 0 20 11 0.354838709677419 TRUE TRUE +ENSG00000111358.14 . BCM GRCh38.p13 chr12 123645483 123645483 + - NA GAGG Frame_Shift_Ins INS ENST00000543341.7 exon3 c.122_123insGAGG p.M42Rfs*50 exonic ENSG00000111358.14 . frameshift insertion ENSG00000111358.14:ENST00000543341.7:exon3:c.122_123insGAGG:p.M42Rfs*50 12q24.31 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTF2H3 NA NA NA NA NA NA NA +ENSG00000183495.14 . BCM GRCh38.p13 chr12 132067410 132067410 + T T A Missense_Mutation SNP ENST00000389561.7 exon50 c.T8798A p.L2933Q exonic ENSG00000183495.14 . nonsynonymous SNV ENSG00000183495.14:ENST00000389561.7:exon50:c.T8798A:p.L2933Q 12q24.33 C3L-00796 . . . . . . . . . 11.18 D T D D N N . D N 0.561 D D D 0.580 . 0.649 1.358 T . D D D T 3.487 24.700 0.986 D N 0.278 3.669 0.258 3.482 1.000 0.722 0.699 0.723 0.714 . 4.680 3.500 4.428 0.125 0.651 1.000 0.895 0.970 964 . . . . EP400 228 0 95 29 0.233870967741935 TRUE TRUE +ENSG00000175820.4 . BCM GRCh38.p13 chr13 102737823 102737823 + G G T Missense_Mutation SNP ENST00000322527.4 exon4 c.C12874A p.Q4292K exonic ENSG00000175820.4 . nonsynonymous SNV ENSG00000175820.4:ENST00000322527.4:exon4:c.C12874A:p.Q4292K 13q33.1 C3L-00796 . . . . . . . . . 0.5 . T . . . . . . . 0.114 . . . . . 0.081 . T . T T . . -1.902 0.001 0.403 N . . . . . 0.958 0.075 0.060 0.063 0.091 0.052 2.250 -2.180 -4.381 -2.396 -0.528 0.000 0.000 0.003 952 . . . . CCDC168 207 0 136 45 0.248618784530387 TRUE NA +ENSG00000129460.16 . BCM GRCh38.p13 chr14 23475573 23475573 + C C T Missense_Mutation SNP ENST00000408901.8 exon5 c.C298T p.R100C exonic ENSG00000129460.16 . nonsynonymous SNV ENSG00000129460.16:ENST00000408901.8:exon5:c.C298T:p.R100C 14q11.2 C3L-00796 2.477e-05 0 0 0 0 4.504e-05 0 0 rs768047922 15.20 D D D D D D M T D 0.650 T T T 0.362 0.578 0.803 0.551 T D D D D D 4.655 32 0.999 D D 0.909 11.288 0.874 12.692 1.000 0.719 0.723 0.702 0.714 . 6.170 6.170 3.986 1.026 0.599 1.000 1.000 0.999 478 . . . . NGDN 163 0 55 45 0.45 TRUE NA +ENSG00000042088.14 . BCM GRCh38.p13 chr14 89993458 89993458 + A A - Frame_Shift_Del DEL ENST00000335725.9 exon14 c.1516delA p.I507Lfs*26 exonic ENSG00000042088.14 . frameshift deletion ENSG00000042088.14:ENST00000335725.9:exon14:c.1516delA:p.I507Lfs*26 14q32.11 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDP1 393 0 140 78 0.357798165137615 TRUE TRUE +ENSG00000156970.13 . BCM GRCh38.p13 chr15 40212508 40212508 + C C A Missense_Mutation SNP ENST00000287598.11 exon19 c.C2395A p.Q799K exonic ENSG00000156970.13 . nonsynonymous SNV ENSG00000156970.13:ENST00000287598.11:exon19:c.C2395A:p.Q799K 15q15.1 C3L-00796 . . . . . . . . . 4.20 T D B B N N M T N 0.473 T T T 0.039 0.437 0.725 0.287 T T T T D T 2.343 21.800 0.982 D N -0.273 1.682 -0.217 1.745 0.730 0.732 0.744 0.725 0.714 . 5.420 2.370 1.556 0.019 0.599 1.000 0.797 0.963 670 . . . . BUB1B 189 1 87 35 0.286885245901639 TRUE TRUE +ENSG00000140254.12 . BCM GRCh38.p13 chr15 45122929 45122929 + A A G Missense_Mutation SNP ENST00000560572.5 exon1 c.T86C p.M29T exonic ENSG00000140254.12 . nonsynonymous SNV ENSG00000140254.12:ENST00000560572.5:exon1:c.T86C:p.M29T 15q21.1 C3L-00796 . . . . . . . . . 0.20 T T B B N N N T N 0.196 T T T 0.127 0.605 0.424 0.293 T T T T T T 1.554 16.080 0.831 N N -0.636 0.923 -0.392 1.387 1.000 0.516 0.590 0.577 0.530 . 5.400 3.420 2.058 0.046 0.756 1.000 0.631 0.923 608 . . . . DUOXA1 124 0 113 7 0.0583333333333333 TRUE NA +ENSG00000185551.15 . BCM GRCh38.p13 chr15 96332295 96332295 + G G A Missense_Mutation SNP ENST00000394166.8 exon1 c.G190A p.G64S exonic ENSG00000185551.15 . nonsynonymous SNV ENSG00000185551.15:ENST00000394166.8:exon1:c.G190A:p.G64S 15q26.2 C3L-00796 . . . . . . . . . 6.20 T T B B N D L D N 0.259 T T D 0.242 0.319 0.681 1.502 D T T T T T 2.355 21.900 0.809 D D -0.870 0.559 -0.765 0.807 1.000 0.733 0.542 0.607 0.622 . 4.660 2.710 5.226 1.150 0.651 1.000 0.986 0.834 923 . . . . NR2F2 269 0 199 63 0.240458015267176 TRUE TRUE +ENSG00000153066.12 . BCM GRCh38.p13 chr16 11734061 11734061 + T T A Missense_Mutation SNP ENST00000356957.7 exon3 c.A490T p.N164Y exonic ENSG00000153066.12 . nonsynonymous SNV ENSG00000153066.12:ENST00000356957.7:exon3:c.A490T:p.N164Y 16p13.13 C3L-00796 . . . . . . . . . 15.20 D D D D D D M T D 0.972 T T D 0.678 0.693 0.714 0.415 T T D D D D 4.167 28.300 0.994 D D 0.800 8.777 0.782 9.609 1.000 0.732 0.672 0.651 0.728 . 5.770 5.770 6.992 1.138 0.609 1.000 1.000 0.999 934 Thioredoxin_domain . . . TXNDC11 223 1 90 28 0.23728813559322 TRUE TRUE +ENSG00000157106.17 . BCM GRCh38.p13 chr16 18868330 18868330 + T T G Missense_Mutation SNP ENST00000446231.7 exon22 c.A3055C p.N1019H exonic ENSG00000157106.17 . nonsynonymous SNV ENSG00000157106.17:ENST00000446231.7:exon22:c.A3055C:p.N1019H 16p12.3 C3L-00796 . . . . . . . . . 13.19 D . D D D D M T D 0.873 T T D 0.474 0.650 0.476 1.351 D T T T D D 3.855 26.100 0.997 D D 0.767 8.173 0.722 8.194 1.000 0.651 0.709 0.670 0.684 . 4.940 4.940 7.915 1.118 0.654 1.000 1.000 1.000 182 . . . . SMG1 233 0 140 40 0.222222222222222 NA TRUE +ENSG00000103540.16 . BCM GRCh38.p13 chr16 19542990 19542990 + - NA A Frame_Shift_Ins INS ENST00000381396.9 exon8 c.2481dupA p.D829Rfs*44 exonic ENSG00000103540.16 . frameshift insertion ENSG00000103540.16:ENST00000381396.9:exon8:c.2481dupA:p.D829Rfs*44 16p12.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCP110 NA NA NA NA NA NA NA +ENSG00000158486.13 . BCM GRCh38.p13 chr16 21031185 21031185 + A A G Missense_Mutation SNP ENST00000261383.3 exon37 c.T5299C p.W1767R exonic ENSG00000158486.13 . nonsynonymous SNV ENSG00000158486.13:ENST00000261383.3:exon37:c.T5299C:p.W1767R 16p12.3 C3L-00796 . . . . . . . . . 19.19 D . D D D D H D D 0.940 D D D 0.921 0.891 0.524 0.650 D D D D D D 3.790 25.800 0.997 D D 1.082 16.780 0.982 17.764 1.000 0.554 0.624 0.618 0.564 . 5.710 5.710 9.318 1.312 0.756 1.000 0.828 0.525 377 . . . . DNAH3 441 0 302 96 0.241206030150754 TRUE NA +ENSG00000090905.19 . BCM GRCh38.p13 chr16 24791817 24791817 + G G T Missense_Mutation SNP ENST00000395799.8 exon6 c.G3175T p.G1059C exonic ENSG00000090905.19 . nonsynonymous SNV ENSG00000090905.19:ENST00000395799.8:exon6:c.G3175T:p.G1059C 16p12.1 C3L-00796 . . . . . . . . . 10.20 D D D P N D L T D 0.592 T T D 0.232 0.315 0.206 0.429 T T T T D D 5.677 34 0.993 D D 0.743 7.757 0.720 8.145 1.000 0.707 0.702 0.702 0.714 . 5.500 5.500 5.877 1.176 0.676 1.000 0.997 0.892 348 . . . . TNRC6A 28 0 25 3 0.107142857142857 TRUE NA +ENSG00000167508.12 . BCM GRCh38.p13 chr16 88653302 88653302 + G G A Nonsense_Mutation SNP ENST00000301012.8 exon9 c.C1120T p.Q374X exonic ENSG00000167508.12 . stopgain ENSG00000167508.12:ENST00000301012.8:exon9:c.C1120T:p.Q374X 16q24.2 C3L-00796 . . . . . . . . . 6.6 . . . . D D . . . 0.711 . . . . . . . . . D D . . 9.833 52 0.990 D D 0.322 3.892 0.082 2.660 0.996 0.707 0.702 0.723 0.714 . 4.170 3.190 0.823 1.040 0.650 0.707 0.988 0.173 835 . . . . MVD 195 0 58 24 0.292682926829268 TRUE TRUE +ENSG00000158792.16 . BCM GRCh38.p13 chr16 89697498 89697498 + A A G Missense_Mutation SNP ENST00000289805.10 exon3 c.T1111C p.C371R exonic ENSG00000158792.16 . nonsynonymous SNV ENSG00000158792.16:ENST00000289805.10:exon3:c.T1111C:p.C371R 16q24.3 C3L-00796 . . . . . . . . . 14.20 D D D D D D M T D 0.876 T T T 0.354 0.656 0.406 0.216 D T D D D T 3.657 25.200 0.997 D D 0.432 4.546 0.405 4.396 1.000 0.635 0.577 0.644 0.592 . 4.530 4.530 3.561 1.278 0.756 1.000 0.664 0.622 740 . . . . SPATA2L 63 0 39 17 0.303571428571429 TRUE TRUE +ENSG00000072310.17 . BCM GRCh38.p13 chr17 17820278 17820278 + G G C Missense_Mutation SNP ENST00000261646.10 exon2 c.C335G p.S112C exonic ENSG00000072310.17 . nonsynonymous SNV ENSG00000072310.17:ENST00000261646.10:exon2:c.C335G:p.S112C 17p11.2 C3L-00796 . . . . . . . . . 6.20 D D P P N N M T N 0.336 T T D 0.122 0.282 0.390 0.863 T T T T T T 2.724 22.900 0.253 D D -0.176 1.944 -0.274 1.620 1.000 0.722 0.699 0.699 0.735 . 4.520 4.520 2.684 1.176 0.676 0.263 0.069 0.104 300 . . . . SREBF1 156 0 105 42 0.285714285714286 TRUE TRUE +ENSG00000141519.15 . BCM GRCh38.p13 chr17 80048753 80048753 + C C A Missense_Mutation SNP ENST00000397545.9 exon5 c.C847A p.P283T exonic ENSG00000141519.15 . nonsynonymous SNV ENSG00000141519.15:ENST00000397545.9:exon5:c.C847A:p.P283T 17q25.3 C3L-00796 . . . . . . . . . 17.19 D D D D . D M D D 0.838 D D D 0.458 0.393 0.835 0.756 T D D D D D 3.571 24.900 0.996 D N 0.706 7.201 0.632 6.652 0.879 0.615 0.574 0.659 0.655 . 4.700 4.700 4.397 0.996 0.599 1.000 0.988 0.968 900 . . . . CCDC40 498 0 254 93 0.268011527377522 TRUE TRUE +ENSG00000171246.6 . BCM GRCh38.p13 chr17 80476178 80476178 + T T C Missense_Mutation SNP ENST00000306773.5 exon1 c.A269G p.E90G exonic ENSG00000171246.6 . nonsynonymous SNV ENSG00000171246.6:ENST00000306773.5:exon1:c.A269G:p.E90G 17q25.3 C3L-00796 . . . . . . . . . 13.20 D D D P N D M T D 0.742 T T D 0.174 0.366 0.664 1.866 D D T T D D 4.329 29.800 0.999 D D 0.198 3.294 0.194 3.152 1.000 0.658 0.616 0.619 0.639 . 2.920 2.920 5.499 0.954 0.494 1.000 1.000 0.994 900 . . . . NPTX1 376 1 145 52 0.263959390862944 TRUE TRUE +ENSG00000141568.21 . BCM GRCh38.p13 chr17 82563490 82563490 + A A G Missense_Mutation SNP ENST00000335255.10 exon2 c.A556G p.I186V exonic ENSG00000141568.21 . nonsynonymous SNV ENSG00000141568.21:ENST00000335255.10:exon2:c.A556G:p.I186V 17q25.3 C3L-00796 . . . . . . . . . 14.20 D T P P D D M D N 0.528 D D D 0.569 0.233 0.803 1.513 T T D D D D 3.146 23.700 0.999 D D 0.749 7.857 0.766 9.180 1.000 0.737 0.725 0.733 0.714 . 5.850 5.850 9.147 1.278 0.756 1.000 1.000 1.000 . . . . . FOXK2 173 0 119 35 0.227272727272727 TRUE TRUE +ENSG00000104904.12 . BCM GRCh38.p13 chr19 2272773 2272773 + G G A Missense_Mutation SNP ENST00000602676.6 exon5 c.G503A p.R168Q exonic ENSG00000104904.12 . nonsynonymous SNV ENSG00000104904.12:ENST00000602676.6:exon5:c.G503A:p.R168Q 19p13.3 C3L-00796 . . . . . . . . rs969846397 2.18 . T B B N N N T . 0.147 T T T 0.292 0.292 0.107 0.026 T T T T D D 0.386 5.273 0.925 N N -1.788 0.025 -1.828 0.030 1.000 0.722 0.522 0.696 0.735 . 4.730 -8.950 0.053 -0.309 -0.248 0.003 0.049 0.675 976 . . . . OAZ1 251 0 161 38 0.190954773869347 TRUE NA +ENSG00000125730.17 . BCM GRCh38.p13 chr19 6697498 6697498 + C C T Missense_Mutation SNP ENST00000245907.11 exon21 c.G2642A p.R881H exonic ENSG00000125730.17 . nonsynonymous SNV ENSG00000125730.17:ENST00000245907.11:exon21:c.G2642A:p.R881H 19p13.3 C3L-00796 . . . . . . . . . 9.20 D D D P N N M T D 0.311 T T D 0.060 0.417 0.632 0.772 T D T T D T 3.204 23.900 0.999 N D 0.088 2.839 -0.076 2.117 0.999 0.706 0.489 0.710 0.621 . 5.960 1.520 0.577 1.026 0.599 0.008 0.870 0.904 867 . . . ID=COSV55570277;OCCURENCE=2(large_intestine) C3 535 0 341 128 0.272921108742004 TRUE TRUE +ENSG00000130307.12 . BCM GRCh38.p13 chr19 17259369 17259370 + CT CT - Frame_Shift_Del DEL ENST00000252597.8 exon7 c.965_966del p.K322Rfs*4 exonic ENSG00000130307.12 . frameshift deletion ENSG00000130307.12:ENST00000252597.8:exon7:c.965_966del:p.K322Rfs*4 19p13.11 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USHBP1 273 0 99 29 0.2265625 TRUE TRUE +ENSG00000105738.11 . BCM GRCh38.p13 chr19 38141313 38141314 + CT CT - Frame_Shift_Del DEL ENST00000222345.11 exon11 c.3273_3274del p.L1093Tfs*97 exonic ENSG00000105738.11 . frameshift deletion ENSG00000105738.11:ENST00000222345.11:exon11:c.3273_3274del:p.L1093Tfs*97 19q13.13 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIPA1L3 313 0 162 50 0.235849056603774 TRUE TRUE +ENSG00000197496.6 . BCM GRCh38.p13 chr20 46726109 46726109 + G G T Missense_Mutation SNP ENST00000359271.4 exon2 c.G1073T p.R358M exonic ENSG00000197496.6 . nonsynonymous SNV ENSG00000197496.6:ENST00000359271.4:exon2:c.G1073T:p.R358M 20q13.12 C3L-00796 . . . . . . . . . 2.20 T T B B N N N D N 0.127 T T D 0.169 0.456 0.720 0.072 T T T T T T 0.646 7.953 0.708 N N -0.971 0.436 -0.937 0.570 0.013 0.706 0.574 0.710 0.636 . 5.580 2.550 -0.082 -0.585 0.676 0.000 0.000 0.002 961 Major_facilitator_superfamily_domain . . . SLC2A10 759 2 585 209 0.263224181360202 TRUE NA +ENSG00000124203.6 . BCM GRCh38.p13 chr20 59194480 59194480 + C C T Missense_Mutation SNP ENST00000637017.1 exon4 c.C3461T p.S1154F exonic ENSG00000124203.6 . nonsynonymous SNV ENSG00000124203.6:ENST00000637017.1:exon4:c.C3461T:p.S1154F 20q13.32 C3L-00796 . . . . . . . . . 2.20 D T B B N N N T D 0.127 T T T 0.027 0.287 0.092 0.392 T T T T T T 0.404 5.467 0.983 N N -1.139 0.273 -1.157 0.321 0.000 0.554 0.588 0.547 0.564 . 4.840 -1.060 -0.086 -0.844 -0.198 0.000 0.000 0.399 993 . . . ID=COSV64038424;OCCURENCE=2(skin) ZNF831 87 0 45 17 0.274193548387097 TRUE TRUE +ENSG00000197457.10 . BCM GRCh38.p13 chr20 63644306 63644306 + T T G Missense_Mutation SNP ENST00000370053.3 exon2 c.A23C p.Y8S exonic ENSG00000197457.10 . nonsynonymous SNV ENSG00000197457.10:ENST00000370053.3:exon2:c.A23C:p.Y8S 20q13.33 C3L-00796 . . . . . . . . . 15.19 D D D D U D M . D 0.900 T T D 0.595 0.596 0.622 2.253 D T D D D D 4.182 28.500 0.991 D D 0.591 5.830 0.498 5.137 1.000 0.706 0.590 0.723 0.613 . 4.200 4.200 7.860 1.138 0.609 1.000 0.999 0.955 . . . . . STMN3 142 0 90 32 0.262295081967213 TRUE TRUE +ENSG00000159131.17 . BCM GRCh38.p13 chr21 33517407 33517407 + G G A Missense_Mutation SNP ENST00000381815.9 exon15 c.C1904T p.S635F exonic ENSG00000159131.17 . nonsynonymous SNV ENSG00000159131.17:ENST00000381815.9:exon15:c.C1904T:p.S635F 21q22.11 C3L-00796 . . . . . . . . . 7.20 T D D P N D M T D 0.241 T T T 0.239 0.512 0.412 0.128 T T T T D T 3.339 24.200 0.969 D N 0.045 2.675 -0.044 2.214 0.508 0.707 0.725 0.725 0.714 . 5.670 4.790 2.942 0.223 -0.124 0.939 0.974 0.982 924 PurM-like,_C-terminal_domain . . ID=COSV67818076;OCCURENCE=1(large_intestine),2(NS),3(skin) GART 273 0 190 73 0.277566539923954 TRUE TRUE +ENSG00000159147.18 . BCM GRCh38.p13 chr21 33583536 33583536 + G G C Missense_Mutation SNP ENST00000303071.10 exon5 c.C916G p.L306V exonic ENSG00000159147.18 . nonsynonymous SNV ENSG00000159147.18:ENST00000303071.10:exon5:c.C916G:p.L306V 21q22.11 C3L-00796 1.648e-05 0 0 0 0 2.997e-05 0 0 rs756425637 1.19 T T B B N D N . N 0.414 T T T 0.058 0.590 0.183 0.091 T T T T T T 0.868 10.090 0.988 N N -0.647 0.903 -0.542 1.135 0.828 0.732 0.744 0.744 0.728 . 6.170 1.990 0.106 0.184 0.676 0.002 0.875 0.909 850 . . . . DONSON 162 0 126 47 0.271676300578035 TRUE NA +ENSG00000160208.13 . BCM GRCh38.p13 chr21 43687585 43687585 + A A G Missense_Mutation SNP ENST00000340648.6 exon13 c.A1211G p.K404R exonic ENSG00000160208.13 . nonsynonymous SNV ENSG00000160208.13:ENST00000340648.6:exon13:c.A1211G:p.K404R 21q22.3 C3L-00796 . . . . . . . . . 0.19 . T B B N N L T N 0.110 T T T 0.038 0.199 0.442 0.289 T T T T T T 1.505 15.770 0.501 N N -0.659 0.883 -0.638 0.990 0.999 0.707 0.702 0.725 0.714 . 4.670 0.972 0.795 0.242 0.756 1.000 0.974 0.793 976 . . . . RRP1B 14 0 8 5 0.384615384615385 TRUE TRUE +ENSG00000158301.18 . BCM GRCh38.p13 chrX 102716191 102716191 + C C A Missense_Mutation SNP ENST00000543253.5 exon5 c.C1322A p.P441Q exonic ENSG00000158301.18 . nonsynonymous SNV ENSG00000158301.18:ENST00000543253.5:exon5:c.C1322A:p.P441Q Xq22.1 C3L-00796 . . . . . . . . . 2.19 T D B B N N L T N 0.146 T T D 0.037 0.167 0.412 0.150 T T T T T T 1.512 15.810 0.943 N . . . . . 0.399 . . . . . 4.440 3.560 2.386 1.008 0.597 0.990 0.998 0.966 228 . . . . GPRASP2 45 0 45 4 0.0816326530612245 TRUE TRUE +ENSG00000101972.19 . BCM GRCh38.p13 chrX 124083439 124083439 + T T - Frame_Shift_Del DEL ENST00000371160.5 exon29 c.2943delT p.F982Lfs*14 exonic ENSG00000101972.19 . frameshift deletion ENSG00000101972.19:ENST00000371160.5:exon29:c.2943delT:p.F982Lfs*14 Xq25 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAG2 79 0 11 24 0.685714285714286 TRUE TRUE +ENSG00000116731.22 . BCM GRCh38.p13 chr1 13779082 13779082 + T T C Silent SNP ENST00000235372.11 exon8 c.T1287C p.D429D exonic ENSG00000116731.22 . synonymous SNV ENSG00000116731.22:ENST00000235372.11:exon8:c.T1287C:p.D429D 1p36.21 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM2 317 0 170 61 0.264069264069264 TRUE TRUE +ENSG00000116604.18 . BCM GRCh38.p13 chr1 156468083 156468083 + C C T Silent SNP ENST00000348159.9 exon11 c.G1464A p.G488G exonic ENSG00000116604.18 . synonymous SNV ENSG00000116604.18:ENST00000348159.9:exon11:c.G1464A:p.G488G 1q22 C3L-00796 8.347e-06 9.889e-05 0 0 0 0 0 0 rs139959650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEF2D 223 0 166 50 0.231481481481481 TRUE NA +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32611579 32611579 + C C A Silent SNP ENST00000421745.6 exon73 c.C14391A p.L4797L exonic ENSG00000115760.14 . synonymous SNV ENSG00000115760.14:ENST00000421745.6:exon73:c.C14391A:p.L4797L 2p22.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BIRC6 110 0 70 16 0.186046511627907 TRUE TRUE +ENSG00000145192.13 . BCM GRCh38.p13 chr3 186613153 186613153 + C C T Silent SNP ENST00000411641.7 exon1 c.C12T p.L4L exonic ENSG00000145192.13 . synonymous SNV ENSG00000145192.13:ENST00000411641.7:exon1:c.C12T:p.L4L 3q27.3 C3L-00796 3.373e-05 0.0001 0 0.0001 0.0002 0 0 6.214e-05 rs144256924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHSG 218 0 148 39 0.20855614973262 TRUE NA +ENSG00000163625.15 . BCM GRCh38.p13 chr4 84678995 84678995 + T T C Silent SNP ENST00000295888.8 exon65 c.A10071G p.R3357R exonic ENSG00000163625.15 . synonymous SNV ENSG00000163625.15:ENST00000295888.8:exon65:c.A10071G:p.R3357R 4q21.23 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDFY3 202 0 95 57 0.375 TRUE TRUE +ENSG00000213347.10 . BCM GRCh38.p13 chr5 177307675 177307675 + C C G Silent SNP ENST00000439742.6 exon6 c.G534C p.L178L exonic ENSG00000213347.10 . synonymous SNV ENSG00000213347.10:ENST00000439742.6:exon6:c.G534C:p.L178L 5q35.3 C3L-00796 1.691e-05 0 0 0 0 3.097e-05 0 0 rs141349755 4.14 D T . . . D . T N 0.247 T T D 0.102 . 0.520 . . . T T T T 0.965 11.180 0.945 D N -0.108 2.150 -0.095 2.061 1.000 0.632 0.698 0.644 0.636 . 5.300 4.440 1.555 1.026 0.599 1.000 1.000 0.141 934 . . . . MXD3 209 0 130 73 0.359605911330049 TRUE NA +ENSG00000105778.19 . BCM GRCh38.p13 chr7 32559128 32559128 + T T C Silent SNP ENST00000318709.9 exon10 c.T879C p.T293T exonic ENSG00000105778.19 . synonymous SNV ENSG00000105778.19:ENST00000318709.9:exon10:c.T879C:p.T293T 7p14.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AVL9 89 0 72 30 0.294117647058824 TRUE TRUE +ENSG00000179091.5 . BCM GRCh38.p13 chr8 144095913 144095913 + G G A Silent SNP ENST00000318911.5 exon2 c.G210A p.G70G exonic ENSG00000179091.5 . synonymous SNV ENSG00000179091.5:ENST00000318911.5:exon2:c.G210A:p.G70G 8q24.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYC1 198 0 62 27 0.303370786516854 TRUE TRUE +ENSG00000177076.6 . BCM GRCh38.p13 chr9 19446362 19446362 + C C T Silent SNP ENST00000340967.3 exon5 c.C585T p.D195D exonic ENSG00000177076.6 . synonymous SNV ENSG00000177076.6:ENST00000340967.3:exon5:c.C585T:p.D195D 9p22.1 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61820824;OCCURENCE=1(skin) ACER2 373 0 176 63 0.263598326359833 TRUE TRUE +ENSG00000084444.14 . BCM GRCh38.p13 chr12 13068397 13068397 + G G A Silent SNP ENST00000197268.13 exon8 c.G1236A p.R412R exonic ENSG00000084444.14 . synonymous SNV ENSG00000084444.14:ENST00000197268.13:exon8:c.G1236A:p.R412R 12p13.1 C3L-00796 4.119e-05 0 0 0 0 7.493e-05 0 0 rs377281119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM234B 216 0 142 29 0.169590643274854 TRUE NA +ENSG00000111647.13 . BCM GRCh38.p13 chr12 100058331 100058331 + T T C Silent SNP ENST00000279907.12 exon14 c.A2946G p.G982G exonic ENSG00000111647.13 . synonymous SNV ENSG00000111647.13:ENST00000279907.12:exon14:c.A2946G:p.G982G 12q23.1 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UHRF1BP1L 154 0 46 27 0.36986301369863 TRUE TRUE +ENSG00000135702.14 . BCM GRCh38.p13 chr16 75530367 75530367 + C C A Silent SNP ENST00000336257.7 exon3 c.G18T p.R6R exonic ENSG00000135702.14 . synonymous SNV ENSG00000135702.14:ENST00000336257.7:exon3:c.G18T:p.R6R 16q23.1 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHST5 50 0 31 4 0.114285714285714 TRUE TRUE +ENSG00000108557.19 . BCM GRCh38.p13 chr17 17797973 17797973 + G G A Silent SNP ENST00000353383.6 exon3 c.G5025A p.V1675V exonic ENSG00000108557.19 . synonymous SNV ENSG00000108557.19:ENST00000353383.6:exon3:c.G5025A:p.V1675V 17p11.2 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAI1 410 0 281 123 0.304455445544554 TRUE TRUE +ENSG00000167100.14 . BCM GRCh38.p13 chr17 50114244 50114244 + G G T Silent SNP ENST00000330175.8 exon8 c.C885A p.P295P exonic ENSG00000167100.14 . synonymous SNV ENSG00000167100.14:ENST00000330175.8:exon8:c.C885A:p.P295P 17q21.33 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD14 208 0 117 50 0.29940119760479 TRUE TRUE +ENSG00000116032.5 . BCM GRCh38.p13 chr19 1003336 1003336 + A A C Silent SNP ENST00000234389.3 exon2 c.A633C p.G211G exonic ENSG00000116032.5 . synonymous SNV ENSG00000116032.5:ENST00000234389.3:exon2:c.A633C:p.G211G 19p13.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIN3B 105 0 69 6 0.08 NA TRUE +ENSG00000105699.16 . BCM GRCh38.p13 chr19 35267698 35267698 + C C T Silent SNP ENST00000621372.4 exon9 c.C1878T p.T626T exonic ENSG00000105699.16 . synonymous SNV ENSG00000105699.16:ENST00000621372.4:exon9:c.C1878T:p.T626T 19q13.12 C3L-00796 8.502e-06 0 0 0 0 1.549e-05 0 0 rs748717222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LSR 46 0 35 15 0.3 TRUE NA +ENSG00000000460.17 . BCM GRCh38.p13 chr1 169795101 169795101 + - NA T 5'UTR SNP NA NA NA NA UTR5 ENSG00000000460.17 ENST00000359326.9:c.-5805_-5804insT . . 1q24.2 C3L-00796 . . . . . . . . rs899180309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1orf112 NA NA NA NA NA NA NA +ENSG00000146535.14 . BCM GRCh38.p13 chr7 2814887 2814887 + G G A Intron SNP NA NA NA NA intronic ENSG00000146535.14 . . . 7p22.2 C3L-00796 . . . . . . . . . 2.14 D T . . . N . D N 0.081 T T T 0.127 0.413 0.266 . . . T T T T -0.275 0.352 0.866 N N -1.468 0.092 -1.628 0.067 1.000 0.601 0.555 0.641 0.613 . 2.070 -3.670 -1.071 -0.261 -0.104 0.000 0.000 0.005 929 . . . . GNA12 178 0 101 35 0.257352941176471 TRUE TRUE +ENSG00000176956.12 . BCM GRCh38.p13 chr8 143159019 143159019 + C C T Intron SNP NA NA NA NA intronic ENSG00000176956.12 . . . 8q24.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LY6H 96 0 66 26 0.282608695652174 TRUE NA +ENSG00000067082.15 . BCM GRCh38.p13 chr10 3778827 3778827 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000067082.15 ENST00000497571.6:c.*712A>G . . 10p15.2 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLF6 188 0 122 49 0.286549707602339 TRUE NA +ENSG00000162073.14 . BCM GRCh38.p13 chr16 2973412 2973412 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000162073.14 ENST00000318782.9:c.*1464C>G . . 16p13.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAQR4 155 0 96 32 0.25 TRUE NA +ENSG00000159461.15 . BCM GRCh38.p13 chr16 56362144 56362144 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000159461.15 ENST00000290649.10:c.*765T>A . . 16q13 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMFR 53 0 29 11 0.275 TRUE NA +ENSG00000105655.19 . BCM GRCh38.p13 chr19 18436670 18436670 + G G A Intron SNP NA NA NA NA intronic ENSG00000105655.19 . . . 19p13.11 C3L-00796 . . . . . . . . rs1055154489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ISYNA1 141 0 43 15 0.258620689655172 TRUE NA +ENSG00000164011.18 . BCM GRCh38.p13 chr1 42851227 42851228 + GC GC TT Unknown MNP ENST00000651192.1 exon4 c.362_363delinsTT p.G121V exonic ENSG00000164011.18 . nonframeshift substitution ENSG00000164011.18:ENST00000651192.1:exon4:c.362_363delinsTT:p.G121V 1p34.2 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF691 364 2 223 60 0.212014134275618 TRUE NA +ENSG00000053254.15 . BCM GRCh38.p13 chr14 89180718 89180719 + CC CC GA Unknown MNP ENST00000345097.8 exon6 c.899_900delinsTC p.G300V exonic ENSG00000053254.15 . nonframeshift substitution ENSG00000053254.15:ENST00000345097.8:exon6:c.899_900delinsTC:p.G300V 14q31.3 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXN3 89 0 31 14 0.311111111111111 TRUE TRUE +ENSG00000108395.14 . BCM GRCh38.p13 chr17 59104323 59104324 + GC GC AA Unknown MNP ENST00000262294.12 exon2 c.92_93delinsTT p.C31F exonic ENSG00000108395.14 . nonframeshift substitution ENSG00000108395.14:ENST00000262294.12:exon2:c.92_93delinsTT:p.C31F 17q22 C3L-00796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM37 306 0 232 58 0.2 TRUE TRUE +ENSG00000171612.7 . BCM GRCh38.p13 chr1 9553720 9553720 + T T - Frame_Shift_Del DEL ENST00000302692.7 exon2 c.151delT p.Y51Ifs*15 exonic ENSG00000171612.7 . frameshift deletion ENSG00000171612.7:ENST00000302692.7:exon2:c.151delT:p.Y51Ifs*15 1p36.22 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A33 511 0 244 66 0.212903225806452 NA TRUE +ENSG00000130940.15 . BCM GRCh38.p13 chr1 10639216 10639218 + GCG GCG - In_Frame_Del DEL ENST00000377022.8 exon21 c.5004_5006del p.A1670del exonic ENSG00000130940.15 . nonframeshift deletion ENSG00000130940.15:ENST00000377022.8:exon21:c.5004_5006del:p.A1670del 1p36.22 C3L-00799 0 0 0 0 0 0 0 0 rs774963440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASZ1 15 0 6 3 0.333333333333333 TRUE NA +ENSG00000117308.15 . BCM GRCh38.p13 chr1 23796199 23796199 + C C A Missense_Mutation SNP ENST00000617979.5 exon11 c.G940T p.A314S exonic ENSG00000117308.15 . nonsynonymous SNV ENSG00000117308.15:ENST00000617979.5:exon11:c.G940T:p.A314S 1p36.11 C3L-00799 . . . . . . . . . 18.19 D D D D D D . D D 0.803 D D D 0.873 0.727 0.952 0.482 T D D D D D 3.327 24.200 0.998 D D 0.737 7.668 0.666 7.158 1.000 0.672 0.698 0.607 0.711 . 5.520 4.550 5.507 1.022 0.596 1.000 0.931 0.700 507 NAD(P)-binding_domain . . . GALE 607 0 225 74 0.247491638795987 TRUE TRUE +ENSG00000162522.11 . BCM GRCh38.p13 chr1 32771763 32771763 + - NA T Frame_Shift_Ins NA ENST00000373480.1 exon6 c.2407_2408insT p.G803Vfs*3 exonic ENSG00000162522.11 . frameshift insertion ENSG00000162522.11:ENST00000373480.1:exon6:c.2407_2408insT:p.G803Vfs*3 1p35.1 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1522 NA NA NA NA NA NA NA +ENSG00000168389.18 . BCM GRCh38.p13 chr1 39968402 39968404 + TCT TCT - In_Frame_Del DEL ENST00000372809.5 exon12 c.1316_1318del p.F441del exonic ENSG00000168389.18 . nonframeshift deletion ENSG00000168389.18:ENST00000372809.5:exon12:c.1316_1318del:p.F441del 1p34.2 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MFSD2A 458 0 255 67 0.208074534161491 TRUE NA +ENSG00000134250.20 . BCM GRCh38.p13 chr1 119923946 119923946 + T T C Missense_Mutation SNP ENST00000256646.7 exon26 c.A4550G p.H1517R exonic ENSG00000134250.20 . nonsynonymous SNV ENSG00000134250.20:ENST00000256646.7:exon26:c.A4550G:p.H1517R 1p12 C3L-00799 . . . . . . . . . 5.20 T T B B U D N D D 0.206 T T T 0.354 0.493 0.767 0.693 T D T T T T 2.051 19.640 0.969 D N -0.074 2.258 0.132 2.872 1.000 0.707 0.693 0.725 0.714 . 6.080 6.080 1.482 1.124 0.665 1.000 1.000 1.000 824 Notch_domain . . . NOTCH2 334 0 130 39 0.230769230769231 TRUE TRUE +ENSG00000163125.15 . BCM GRCh38.p13 chr1 150470687 150470694 + CCAGTGCC CCAGTGCC - Frame_Shift_Del DEL ENST00000369068.4 exon11 c.1739_1746del p.S581Tfs*12 exonic ENSG00000163125.15 . frameshift deletion ENSG00000163125.15:ENST00000369068.4:exon11:c.1739_1746del:p.S581Tfs*12 1q21.2 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPRD2 459 0 215 25 0.104166666666667 TRUE TRUE +ENSG00000135837.16 . BCM GRCh38.p13 chr1 180093333 180093333 + C C T Nonsense_Mutation SNP ENST00000367607.8 exon34 c.C7228T p.Q2410X exonic ENSG00000135837.16 . stopgain ENSG00000135837.16:ENST00000367607.8:exon34:c.C7228T:p.Q2410X 1q25.2 C3L-00799 . . . . . . . . . 5.7 . . . . N A . . . 0.089 . . . . . . . . . D D D . 5.570 34 0.994 D N 0.461 4.747 0.237 3.367 0.987 0.707 0.725 0.609 0.636 . 5.380 3.450 0.779 0.110 -0.217 0.566 0.996 0.961 364 . . . . CEP350 309 1 123 32 0.206451612903226 TRUE TRUE +ENSG00000116711.10 . BCM GRCh38.p13 chr1 186939192 186939192 + A A G Missense_Mutation SNP ENST00000367466.4 exon9 c.A880G p.I294V exonic ENSG00000116711.10 . nonsynonymous SNV ENSG00000116711.10:ENST00000367466.4:exon9:c.A880G:p.I294V 1q31.1 C3L-00799 . . . . . . . . . 2.20 T T B B N D L T N 0.106 T T T 0.046 0.612 0.669 0.453 T T T T T T 1.682 16.900 0.945 D N -0.407 1.368 -0.258 1.653 0.000 0.615 0.588 0.574 0.655 . 5.930 2.380 2.547 0.284 -0.065 1.000 0.999 0.990 804 Lysophospholipase,_catalytic_domain . . . PLA2G4A 343 0 73 19 0.206521739130435 TRUE TRUE +ENSG00000143469.20 . BCM GRCh38.p13 chr1 210021165 210021165 + A A G Missense_Mutation SNP ENST00000472886.5 exon4 c.A353G p.Q118R exonic ENSG00000143469.20 . nonsynonymous SNV ENSG00000143469.20:ENST00000472886.5:exon4:c.A353G:p.Q118R 1q32.2 C3L-00799 . . . . . . . . . 2.20 T T P B N D L T N 0.517 T T T 0.039 0.206 0.103 . T T T T T T 1.498 15.720 0.643 D N -0.367 1.455 -0.259 1.651 0.002 0.615 0.574 0.659 0.580 . 5.150 2.720 2.723 0.320 -0.046 1.000 1.000 0.991 584 . . . . SYT14 492 0 227 70 0.235690235690236 TRUE TRUE +ENSG00000239779.7 . BCM GRCh38.p13 chr2 74458627 74458627 + G G - Frame_Shift_Del DEL ENST00000233615.7 exon1 c.25delG p.G9Afs*23 exonic ENSG00000239779.7 . frameshift deletion ENSG00000239779.7:ENST00000233615.7:exon1:c.25delG:p.G9Afs*23 2p13.1 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WBP1 200 0 50 15 0.230769230769231 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142055 10142055 + G G T Nonsense_Mutation SNP ENST00000256474.3 exon1 c.G208T p.E70X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon1:c.G208T:p.E70X 3p25.3 C3L-00799 . . . . . . . . rs5030802 4.6 . . . . N A . . . 0.858 . . . . . . . . . D D . . 7.636 38 0.996 D N 0.721 7.419 0.565 5.807 1.000 0.442 0.522 0.522 0.562 . 5.430 4.560 2.171 1.002 0.586 1.000 0.995 0.731 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56544079;OCCURENCE=12(kidney) VHL 549 0 150 66 0.305555555555556 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52576548 52576549 + AC AC - Frame_Shift_Del DEL ENST00000296302.11 exon22 c.3683_3684del p.C1228Yfs*20 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon22:c.3683_3684del:p.C1228Yfs*20 3p21.1 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 165 0 31 17 0.354166666666667 TRUE TRUE +ENSG00000173230.15 . BCM GRCh38.p13 chr3 121716898 121716898 + T T C Missense_Mutation SNP ENST00000340645.9 exon9 c.A1112G p.K371R exonic ENSG00000173230.15 . nonsynonymous SNV ENSG00000173230.15:ENST00000340645.9:exon9:c.A1112G:p.K371R 3q13.33 C3L-00799 8.238e-06 9.612e-05 0 0 0 0 0 0 rs142966732 0.20 T T B B N N N T N 0.076 T T T 0.012 . 0.233 0.087 T T T T T T 0.611 7.616 0.559 N N -0.820 0.627 -0.812 0.741 0.092 0.707 0.725 0.725 0.714 . 6.070 2.450 0.111 0.202 -0.120 0.000 0.970 0.996 433 . . . . GOLGB1 312 0 82 45 0.354330708661417 TRUE NA +ENSG00000073803.14 . BCM GRCh38.p13 chr3 185429002 185429002 + G G C Missense_Mutation SNP ENST00000265026.8 exon2 c.G421C p.V141L exonic ENSG00000073803.14 . nonsynonymous SNV ENSG00000073803.14:ENST00000265026.8:exon2:c.G421C:p.V141L 3q27.2 C3L-00799 . . . . . . . . . 15.20 D D D P D D M T N 0.833 D D D 0.633 0.495 0.837 0.467 T T D D D D 3.826 26.000 0.998 D D 0.820 9.187 0.822 10.808 1.000 0.554 0.588 0.547 0.568 . 5.510 5.510 9.910 1.176 0.676 1.000 1.000 1.000 622 . . . . MAP3K13 257 0 110 53 0.325153374233129 TRUE TRUE +ENSG00000175920.18 . BCM GRCh38.p13 chr4 3492848 3492848 + T T A Missense_Mutation SNP ENST00000340083.6 exon7 c.T862A p.S288T exonic ENSG00000175920.18 . nonsynonymous SNV ENSG00000175920.18:ENST00000340083.6:exon7:c.T862A:p.S288T 4p16.3 C3L-00799 . . . . . . . . . 4.20 T T B B N D M T N 0.259 T T D 0.085 0.207 0.729 0.005 T T T T T T 1.109 12.860 0.804 D N -0.193 1.896 -0.235 1.705 1.000 0.598 0.547 0.596 0.542 . 3.070 3.070 1.136 0.972 0.515 0.455 0.026 0.084 900 . . . . DOK7 325 0 94 43 0.313868613138686 TRUE TRUE +ENSG00000078177.14 . BCM GRCh38.p13 chr4 40121421 40121421 + T T A Missense_Mutation SNP ENST00000261435.11 exon9 c.T3310A p.L1104I exonic ENSG00000078177.14 . nonsynonymous SNV ENSG00000078177.14:ENST00000261435.11:exon9:c.T3310A:p.L1104I 4p14 C3L-00799 . . . . . . . . . 1.20 T T B B N N N T N 0.172 T T T 0.060 0.168 0.386 0.345 T T T T T T 1.685 16.930 0.972 D N -0.065 2.289 0.118 2.808 1.000 0.660 0.663 0.659 0.655 . 5.860 5.860 1.437 1.138 0.665 1.000 0.995 0.986 426 . . . . N4BP2 144 0 24 9 0.272727272727273 TRUE TRUE +ENSG00000157426.14 . BCM GRCh38.p13 chr4 56338405 56338405 + T T - Frame_Shift_Del DEL ENST00000205214.11 exon15 c.3294delA p.K1098Nfs*10 exonic ENSG00000157426.14 . frameshift deletion ENSG00000157426.14:ENST00000205214.11:exon15:c.3294delA:p.K1098Nfs*10 4q12 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AASDH 219 0 39 20 0.338983050847458 TRUE TRUE +ENSG00000109756.9 . BCM GRCh38.p13 chr4 159343357 159343357 + - NA T Frame_Shift_Ins NA ENST00000264431.8 exon16 c.2724_2725insT p.R909Sfs*30 exonic ENSG00000109756.9 . frameshift insertion ENSG00000109756.9:ENST00000264431.8:exon16:c.2724_2725insT:p.R909Sfs*30 4q32.1 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAPGEF2 NA NA NA NA NA NA NA +ENSG00000164588.8 . BCM GRCh38.p13 chr5 45396508 45396508 + C C T Missense_Mutation SNP ENST00000303230.6 exon4 c.G1214A p.R405Q exonic ENSG00000164588.8 . nonsynonymous SNV ENSG00000164588.8:ENST00000303230.6:exon4:c.G1214A:p.R405Q 5p12 C3L-00799 . . . . . . . . . 17.20 D D P B N D M D D 0.728 D D D 0.608 0.332 0.963 1.714 D D D D D D 3.539 24.800 0.999 D D 0.547 5.425 0.611 6.367 1.000 0.554 0.574 0.618 0.564 . 5.420 5.420 7.905 1.026 0.599 0.996 0.483 0.978 608 . . . ID=COSV57533821;OCCURENCE=1(breast),1(endometrium) HCN1 675 0 277 91 0.247282608695652 TRUE TRUE +ENSG00000111802.14 . BCM GRCh38.p13 chr6 24666745 24666745 + C C T Missense_Mutation SNP ENST00000378198.9 exon1 c.G118A p.A40T exonic ENSG00000111802.14 . nonsynonymous SNV ENSG00000111802.14:ENST00000378198.9:exon1:c.G118A:p.A40T 6p22.3 C3L-00799 . . . . . . . . . 0.20 T T B B N N L T N 0.097 T T T 0.027 0.175 0.014 0.150 T T T T T T -1.217 0.002 0.878 N N -2.463 0.001 -2.557 0.001 1.000 0.442 0.522 0.522 0.562 . 5.090 -10.200 -3.447 -3.220 -3.283 0.000 0.000 0.015 725 . . . . TDP2 493 0 165 60 0.266666666666667 TRUE TRUE +ENSG00000197442.10 . BCM GRCh38.p13 chr6 136694261 136694261 + T T A Missense_Mutation SNP ENST00000359015.5 exon7 c.A1132T p.M378L exonic ENSG00000197442.10 . nonsynonymous SNV ENSG00000197442.10:ENST00000359015.5:exon7:c.A1132T:p.M378L 6q23.3 C3L-00799 . . . . . . . . . 1.20 T T B B N N N T N 0.134 T T T 0.108 0.540 0.103 0.364 T T T T T T 1.437 15.330 0.728 D N -0.800 0.655 -0.520 1.170 0.884 0.706 0.725 0.653 0.613 . 5.660 2.470 1.551 -0.209 0.609 0.988 0.998 0.998 412 Domain_of_unknown_function_DUF4071 . . . MAP3K5 212 0 80 31 0.279279279279279 TRUE TRUE +ENSG00000010818.10 . BCM GRCh38.p13 chr6 142773406 142773406 + G G A Nonsense_Mutation SNP ENST00000367603.8 exon5 c.C1333T p.Q445X exonic ENSG00000010818.10 . stopgain ENSG00000010818.10:ENST00000367603.8:exon5:c.C1333T:p.Q445X 6q24.2 C3L-00799 . . . . . . . . . 5.6 . . . . D A . . . 0.938 . . . . . . . . . D D . . 6.917 36 0.998 D N 1.036 15.081 0.887 13.201 1.000 0.563 0.553 0.567 0.636 . 6.060 5.180 5.500 0.189 0.676 1.000 0.134 0.989 525 . . . . HIVEP2 490 0 195 58 0.229249011857708 TRUE TRUE +ENSG00000127955.17 . BCM GRCh38.p13 chr7 80189142 80189142 + G G C Missense_Mutation SNP ENST00000649796.2 exon3 c.G214C p.V72L exonic ENSG00000127955.17 . nonsynonymous SNV ENSG00000127955.17:ENST00000649796.2:exon3:c.G214C:p.V72L 7q21.11 C3L-00799 . . . . . . . . . 14.20 T T B B D D L D N 0.916 D D D 0.480 0.596 0.964 1.101 D D D D D D 2.626 22.700 0.998 D D 0.306 3.812 0.494 5.103 1.000 0.706 0.574 0.710 0.613 . 6.040 6.040 10.003 1.176 0.618 1.000 0.995 0.940 903 . . . . GNAI1 145 0 52 18 0.257142857142857 TRUE TRUE +ENSG00000177710.6 . BCM GRCh38.p13 chr8 11331926 11331926 + G G T Missense_Mutation SNP ENST00000382435.5 exon1 c.G820T p.V274F exonic ENSG00000177710.6 . nonsynonymous SNV ENSG00000177710.6:ENST00000382435.5:exon1:c.G820T:p.V274F 8p23.1 C3L-00799 . . . . . . . . . 5.19 D D D D N N L T N 0.302 T T T 0.137 0.286 0.369 0.456 T T T T D . 2.031 19.490 0.984 N N -0.514 1.149 -0.766 0.805 0.069 0.421 0.551 0.578 0.613 . . . 0.245 0.097 0.098 0.438 0.225 0.114 946 . . . . SLC35G5 618 1 257 63 0.196875 NA TRUE +ENSG00000122728.6 . BCM GRCh38.p13 chr9 32631802 32631802 + C C T Missense_Mutation SNP ENST00000242310.4 exon1 c.G3778A p.E1260K exonic ENSG00000122728.6 . nonsynonymous SNV ENSG00000122728.6:ENST00000242310.4:exon1:c.G3778A:p.E1260K 9p21.1 C3L-00799 . . . . . . . . . 8.20 D D B B D D N T D 0.113 T T T 0.096 0.214 0.487 0.183 T T T T D D 1.316 14.500 0.998 D N -0.521 1.135 -0.538 1.142 0.897 0.660 0.670 0.659 0.592 . 1.040 -0.054 5.210 0.275 0.243 1.000 0.865 0.320 836 . . . . TAF1L 610 1 136 70 0.339805825242718 NA TRUE +ENSG00000107736.21 . BCM GRCh38.p13 chr10 71675161 71675161 + G G T Missense_Mutation SNP ENST00000224721.12 exon15 c.G1499T p.S500I exonic ENSG00000107736.21 . nonsynonymous SNV ENSG00000107736.21:ENST00000224721.12:exon15:c.G1499T:p.S500I 10q22.1 C3L-00799 . . . . . . . . . 9.17 . D B B D D N . . 0.660 T T T 0.349 0.452 0.812 . T T D D D D 3.708 25.400 0.996 D D 0.088 2.838 0.199 3.176 1.000 0.615 0.610 0.616 0.542 . 5.720 3.810 5.442 0.189 0.676 1.000 0.999 0.998 894 Cadherin-like . . . CDH23 261 1 127 39 0.234939759036145 TRUE TRUE +ENSG00000189319.14 . BCM GRCh38.p13 chr10 124681663 124681663 + G G A Missense_Mutation SNP ENST00000337318.8 exon4 c.C850T p.R284C exonic ENSG00000189319.14 . nonsynonymous SNV ENSG00000189319.14:ENST00000337318.8:exon4:c.C850T:p.R284C 10q26.13 C3L-00799 0.0001 0.0005 0.0001 0.0003 0 5.837e-05 0 0 rs145118068 13.20 D D P B D D M T D 0.844 T T D 0.345 . 0.538 1.377 T T D D D D 3.397 24.400 0.999 D D 0.149 3.085 0.188 3.125 1.000 0.707 0.725 0.725 0.636 . 4.850 3.950 3.860 1.176 0.676 1.000 0.931 0.841 730 . . . . FAM53B 157 0 24 21 0.466666666666667 TRUE NA +ENSG00000215182.8 . BCM GRCh38.p13 chr11 1197957 1197957 + C C T Missense_Mutation SNP ENST00000621226.2 exon42 c.C16088T p.A5363V exonic ENSG00000215182.8 . nonsynonymous SNV ENSG00000215182.8:ENST00000621226.2:exon42:c.C16088T:p.A5363V 11p15.5 C3L-00799 6.617e-05 0 0.0005 0 0 5.757e-05 0 0 rs765361615 0.5 . T . . . . . . . 0.097 . . . . . 0.105 . . T T T . . -0.324 0.278 0.702 N . . . . . 0.972 0.057 0.061 0.074 0.079 0.052 3.400 -6.800 -3.169 -2.995 -0.820 0.000 0.000 0.000 . . . . . MUC5AC 108 0 68 15 0.180722891566265 TRUE NA +ENSG00000110435.12 . BCM GRCh38.p13 chr11 34916808 34916808 + G G A Nonsense_Mutation SNP ENST00000227868.9 exon1 c.G153A p.W51X exonic ENSG00000110435.12 . stopgain ENSG00000110435.12:ENST00000227868.9:exon1:c.G153A:p.W51X 11p13 C3L-00799 . . . . . . . . . 4.6 . . . . N D . . . 0.773 . . . . . . . . . D D . . 9.705 51 0.995 D N 0.974 13.122 0.818 10.689 1.000 0.442 0.522 0.522 0.562 . 5.330 5.330 3.010 1.101 0.590 1.000 0.358 0.444 732 . . . . PDHX 518 0 193 75 0.279850746268657 TRUE TRUE +ENSG00000162129.14 . BCM GRCh38.p13 chr11 72293425 72293438 + GTCTTGCTGTCCTT GTCTTGCTGTCCTT - Frame_Shift_Del DEL ENST00000294053.9 exon17 c.2053_2066del p.K685Sfs*12 exonic ENSG00000162129.14 . frameshift deletion ENSG00000162129.14:ENST00000294053.9:exon17:c.2053_2066del:p.K685Sfs*12 11q13.4 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLPB 359 0 120 35 0.225806451612903 TRUE TRUE +ENSG00000198488.10 . BCM GRCh38.p13 chr11 77040092 77040092 + G G T Nonsense_Mutation SNP ENST00000622824.1 exon2 c.G541T p.E181X exonic ENSG00000198488.10 . stopgain ENSG00000198488.10:ENST00000622824.1:exon2:c.G541T:p.E181X 11q13.5 C3L-00799 . . . . . . . . . 3.6 . . . . N D . . . 0.018 . . . . . . . . . D D . . 6.711 36 0.996 N N 0.299 3.773 0.042 2.510 1.000 0.616 0.618 0.607 0.555 . 3.280 2.370 -0.219 1.093 0.586 0.000 1.000 0.987 502 . . . . B3GNT6 270 1 102 35 0.255474452554745 TRUE TRUE +ENSG00000165323.15 . BCM GRCh38.p13 chr11 92352841 92352841 + C C A Missense_Mutation SNP ENST00000409404.6 exon1 c.C729A p.N243K exonic ENSG00000165323.15 . nonsynonymous SNV ENSG00000165323.15:ENST00000409404.6:exon1:c.C729A:p.N243K 11q14.3 C3L-00799 . . . . . . . . . 4.15 T . . . . N N T N 0.847 T T D 0.242 0.584 0.408 . T T T T D . 2.171 20.600 0.998 D D 0.266 3.607 0.227 3.317 0.285 0.633 0.574 0.602 0.621 . 4.830 2.930 0.672 0.138 0.599 0.998 0.991 0.998 729 Cadherin-like . . . FAT3 185 0 60 34 0.361702127659574 TRUE TRUE +ENSG00000109971.14 . BCM GRCh38.p13 chr11 123059883 123059883 + A A G Missense_Mutation SNP ENST00000534624.6 exon5 c.T710C p.M237T exonic ENSG00000109971.14 . nonsynonymous SNV ENSG00000109971.14:ENST00000534624.6:exon5:c.T710C:p.M237T 11q24.1 C3L-00799 . . . . . . . . . 14.20 D D P P D D M T D 0.933 T T D 0.619 0.663 0.679 . D T D D D D 3.555 24.900 0.982 D D 0.553 5.480 0.568 5.850 1.000 0.628 0.672 0.672 0.658 . 4.740 4.740 9.235 1.225 0.659 1.000 1.000 0.991 931 . . . . HSPA8 415 0 184 45 0.196506550218341 NA TRUE +ENSG00000231887.7 . BCM GRCh38.p13 chr12 10882261 10882261 + G G A Missense_Mutation SNP ENST00000543626.4 exon3 c.C538T p.P180S exonic ENSG00000231887.7;ENSG00000275778.2 . nonsynonymous SNV ENSG00000231887.7:ENST00000543626.4:exon3:c.C538T:p.P180S,ENSG00000275778.2:ENST00000536668.2:exon7:c.C772T:p.P258S 12p13.2 C3L-00799 . . . . . . . . . 3.14 D D . . . N . T D 0.243 T T T 0.036 0.355 0.048 1.107 T . T T T . 0.976 11.310 0.617 N N -0.766 0.706 -1.018 0.467 0.913 0.554 0.588 0.602 0.613 . 0.687 -0.417 2.064 -1.142 -0.573 0.064 0.000 0.002 869 . . . . PRH1 314 0 138 40 0.224719101123595 NA TRUE +ENSG00000170484.10 . BCM GRCh38.p13 chr12 52571990 52571990 + A A T Missense_Mutation SNP ENST00000305620.3 exon3 c.T701A p.I234N exonic ENSG00000170484.10 . nonsynonymous SNV ENSG00000170484.10:ENST00000305620.3:exon3:c.T701A:p.I234N 12q13.13 C3L-00799 . . . . . . . . . 17.20 D D D D N D M D D 0.755 D D D 0.696 0.673 0.812 0.514 T D D D D D 3.563 24.900 0.992 D N 0.715 7.331 0.555 5.703 1.000 0.497 0.590 0.547 0.542 . 4.460 4.460 4.993 1.312 0.756 1.000 0.936 0.812 851 Intermediate_filament,_rod_domain . . . KRT74 520 0 208 78 0.272727272727273 TRUE TRUE +ENSG00000139445.18 . BCM GRCh38.p13 chr12 109281455 109281455 + T T A Missense_Mutation SNP ENST00000299162.10 exon9 c.A1246T p.T416S exonic ENSG00000139445.18 . nonsynonymous SNV ENSG00000139445.18:ENST00000299162.10:exon9:c.A1246T:p.T416S 12q24.11 C3L-00799 . . . . . . . . . 6.20 T T B B N D L D N 0.160 D D D 0.210 0.282 0.916 0.170 T T T T T T 1.296 14.360 0.924 D N -0.594 0.999 -0.593 1.057 0.005 0.581 0.574 0.576 0.613 . 5.300 -1.650 0.202 0.168 0.665 0.995 0.798 0.836 749 . . . . FOXN4 414 0 165 57 0.256756756756757 TRUE TRUE +ENSG00000139718.10 . BCM GRCh38.p13 chr12 121810465 121810465 + T T C Missense_Mutation SNP ENST00000604567.5 exon6 c.T1520C p.L507P exonic ENSG00000139718.10 . nonsynonymous SNV ENSG00000139718.10:ENST00000604567.5:exon6:c.T1520C:p.L507P 12q24.31 C3L-00799 . . . . . . . . . 18.19 D D D D . D M D D 0.825 D D D 0.900 0.372 0.794 3.328 D T D D D D 4.304 29.600 0.997 D D 0.712 7.287 0.679 7.374 1.000 0.707 0.698 0.723 0.714 . 4.970 4.970 7.947 1.066 0.580 1.000 1.000 0.994 754 . . . ID=COSV57350311;OCCURENCE=1(stomach) SETD1B 589 0 222 64 0.223776223776224 TRUE TRUE +ENSG00000151320.11 . BCM GRCh38.p13 chr14 32535716 32535716 + G G A Missense_Mutation SNP ENST00000280979.9 exon3 c.G487A p.E163K exonic ENSG00000151320.11 . nonsynonymous SNV ENSG00000151320.11:ENST00000280979.9:exon3:c.G487A:p.E163K 14q12 C3L-00799 . . . . . . . . . 14.20 D D D D D D L T N 0.914 T T D 0.418 0.434 0.721 0.386 D T D D D D 4.377 31 0.999 D D 0.911 11.340 0.911 14.241 1.000 0.554 0.588 0.574 0.613 . 5.800 5.800 9.860 1.176 0.618 1.000 1.000 0.997 770 . . . . AKAP6 431 0 140 52 0.270833333333333 TRUE TRUE +ENSG00000103647.13 . BCM GRCh38.p13 chr15 68725960 68725960 + C C A Missense_Mutation SNP ENST00000261861.10 exon12 c.C1429A p.P477T exonic ENSG00000103647.13 . nonsynonymous SNV ENSG00000103647.13:ENST00000261861.10:exon12:c.C1429A:p.P477T 15q23 C3L-00799 . . . . . . . . . 7.20 T T B B D D L T N 0.588 T T D 0.143 0.238 0.212 0.834 T T T T D D 2.973 23.400 0.984 D D -0.294 1.628 -0.122 1.986 1.000 0.653 0.590 0.676 0.616 . 3.620 3.620 7.326 1.018 0.589 1.000 1.000 0.998 939 . . . . CORO2B 619 1 332 20 0.0568181818181818 TRUE NA +ENSG00000013364.19 . BCM GRCh38.p13 chr16 29845915 29845915 + A A - Frame_Shift_Del DEL ENST00000357402.10 exon12 c.2074delA p.K692Rfs*21 exonic ENSG00000013364.19 . frameshift deletion ENSG00000013364.19:ENST00000357402.10:exon12:c.2074delA:p.K692Rfs*21 16p11.2 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MVP 445 0 186 42 0.184210526315789 TRUE TRUE +ENSG00000088682.14 . BCM GRCh38.p13 chr16 57452931 57452931 + G G C Missense_Mutation SNP ENST00000262507.11 exon3 c.G373C p.A125P exonic ENSG00000088682.14 . nonsynonymous SNV ENSG00000088682.14:ENST00000262507.11:exon3:c.G373C:p.A125P 16q21 C3L-00799 . . . . . . . . . 17.19 D D D D D D M . D 0.967 D D D 0.701 0.796 0.538 0.770 T T D D D D 4.432 31 0.997 D D 0.977 13.208 0.905 13.951 1.000 0.707 0.725 0.725 0.714 . 5.010 5.010 9.957 1.176 0.676 1.000 1.000 0.998 679 . . . . COQ9 699 0 284 74 0.206703910614525 TRUE TRUE +ENSG00000102978.13 . BCM GRCh38.p13 chr16 57471019 57471019 + C C T Missense_Mutation SNP ENST00000219252.10 exon9 c.C728T p.T243I exonic ENSG00000102978.13 . nonsynonymous SNV ENSG00000102978.13:ENST00000219252.10:exon9:c.C728T:p.T243I 16q21 C3L-00799 . . . . . . . . . 16.20 T T P P D D M D D 0.518 D D D 0.562 0.513 0.978 1.275 D D D D D D 2.914 23.200 0.998 D D 0.515 5.150 0.575 5.920 1.000 0.722 0.702 0.699 0.684 . 5.590 5.590 5.724 1.026 0.599 1.000 1.000 0.939 631 DNA-directed_RNA_polymerase,_RpoA/D/Rpb3-type . . . POLR2C 252 0 99 29 0.2265625 TRUE TRUE +ENSG00000141499.17 . BCM GRCh38.p13 chr17 7702344 7702344 + C C G Missense_Mutation SNP ENST00000396463.7 exon8 c.C956G p.A319G exonic ENSG00000141499.17 . nonsynonymous SNV ENSG00000141499.17:ENST00000396463.7:exon8:c.C956G:p.A319G 17p13.1 C3L-00799 . . . . . . . . . 2.19 T T B B N D . T N 0.386 T T T 0.034 0.302 0.117 0.272 T T T T T T 1.834 17.980 0.951 D N -0.343 1.511 -0.133 1.956 0.222 0.706 0.725 0.710 0.636 . 4.600 4.600 0.936 1.016 0.577 0.628 0.932 0.996 402 . . . . WRAP53 499 0 206 37 0.152263374485597 TRUE TRUE +ENSG00000141499.17 . BCM GRCh38.p13 chr17 7702350 7702350 + A A G Missense_Mutation SNP ENST00000396463.7 exon8 c.A962G p.K321R exonic ENSG00000141499.17 . nonsynonymous SNV ENSG00000141499.17:ENST00000396463.7:exon8:c.A962G:p.K321R 17p13.1 C3L-00799 . . . . . . . . . 2.19 T T B B N D . T N 0.338 T T T 0.085 0.295 0.068 0.277 T T T T T T 2.055 19.670 0.990 D N -0.540 1.100 -0.403 1.366 0.009 0.706 0.725 0.710 0.714 . 4.600 2.380 1.859 -0.401 -0.618 1.000 0.990 0.990 402 WD40-repeat-containing_domain . . . WRAP53 467 31 192 35 0.154185022026432 TRUE NA +ENSG00000197566.10 . BCM GRCh38.p13 chr17 16624465 16624465 + C C T Missense_Mutation SNP ENST00000311331.12 exon6 c.G421A p.A141T exonic ENSG00000197566.10 . nonsynonymous SNV ENSG00000197566.10:ENST00000311331.12:exon6:c.G421A:p.A141T 17p11.2 C3L-00799 . . . . . . . . . 0.19 T T B B . N N T N 0.036 T T T 0.008 0.242 0.067 0.371 T T T T T T -0.040 1.104 0.145 N N -1.395 0.119 -1.435 0.135 0.001 0.554 0.546 0.602 0.492 . 2.950 -1.340 -0.160 0.030 -0.191 0.000 0.006 0.002 884 . . . . ZNF624 99 0 35 9 0.204545454545455 TRUE TRUE +ENSG00000196365.12 . BCM GRCh38.p13 chr19 5720012 5720012 + G G A Nonsense_Mutation SNP ENST00000360614.8 exon1 c.C121T p.R41X exonic ENSG00000196365.12 . stopgain ENSG00000196365.12:ENST00000360614.8:exon1:c.C121T:p.R41X 19p13.3 C3L-00799 . . . . . . . . . 1.6 . . . . N A . . . 0.199 . . . . . . . . . T T . . 4.853 33 0.981 N N -0.532 1.114 -0.926 0.585 1.000 0.442 0.522 0.522 0.562 . 4.570 -4.010 -0.025 -1.447 -0.924 0.000 0.000 0.000 872 . . . . LONP1 374 0 166 21 0.112299465240642 TRUE TRUE +ENSG00000105173.14 . BCM GRCh38.p13 chr19 29822113 29822113 + T T G Missense_Mutation SNP ENST00000262643.8 exon9 c.T823G p.F275V exonic ENSG00000105173.14 . nonsynonymous SNV ENSG00000105173.14:ENST00000262643.8:exon9:c.T823G:p.F275V 19q12 C3L-00799 . . . . . . . . . 12.20 D D P P D D M T D 0.664 T T D 0.294 0.522 0.932 1.543 T T D T D D 3.967 26.800 0.993 D D 0.635 6.295 0.638 6.736 1.000 0.707 0.725 0.725 0.714 . 6.170 6.170 6.248 1.138 0.665 1.000 0.898 0.943 936 Cyclin,_C-terminal_domain . . . CCNE1 128 0 50 10 0.166666666666667 TRUE TRUE +ENSG00000167380.16 . BCM GRCh38.p13 chr19 44176966 44176966 + C C A Missense_Mutation SNP ENST00000590089.5 exon7 c.C1704A p.F568L exonic ENSG00000167380.16 . nonsynonymous SNV ENSG00000167380.16:ENST00000590089.5:exon7:c.C1704A:p.F568L 19q13.31 C3L-00799 . . . . . . . . . 10.20 D D D D N D M T D 0.612 T T T 0.291 0.755 0.635 0.157 T T D T D T 2.846 23.100 0.997 D N 0.038 2.649 -0.123 1.982 0.006 0.707 0.702 0.725 0.636 . 4.100 1.880 1.662 -1.364 -0.196 0.976 0.366 0.019 906 Zinc_finger_C2H2-type . . . ZNF226 262 0 110 43 0.281045751633987 NA TRUE +ENSG00000105538.10 . BCM GRCh38.p13 chr19 48727417 48727417 + T T A Missense_Mutation SNP ENST00000222145.9 exon6 c.A1847T p.E616V exonic ENSG00000105538.10 . nonsynonymous SNV ENSG00000105538.10:ENST00000222145.9:exon6:c.A1847T:p.E616V 19q13.33 C3L-00799 . . . . . . . . . 15.20 D D D D D D M T D 0.500 T T D 0.390 0.480 0.399 1.627 D D D T D T 5.714 34 0.993 D D 0.708 7.235 0.699 7.732 1.000 0.722 0.547 0.723 0.735 . 5.460 5.460 6.318 1.138 0.609 1.000 1.000 0.995 878 Dilute_domain;Rasip1/Radil,_cargo-binding_domain . . . RASIP1 212 0 103 29 0.21969696969697 TRUE TRUE +ENSG00000215568.9 . BCM GRCh38.p13 chr22 16966142 16966142 + G G A Nonsense_Mutation SNP ENST00000400588.5 exon6 c.C1246T p.Q416X exonic ENSG00000215568.9 . stopgain ENSG00000215568.9:ENST00000400588.5:exon6:c.C1246T:p.Q416X 22q11.1 C3L-00799 . . . . . . . . . 4.6 . . . . N A . . . 0.021 . . . . . . . . . D D . . 8.285 42 0.993 D N 0.701 7.131 0.422 4.516 0.001 0.487 0.574 0.547 0.564 . 2.300 2.300 6.198 0.809 0.373 1.000 0.684 0.022 994 . . . . GAB4 413 1 138 36 0.206896551724138 TRUE TRUE +ENSG00000147383.11 . BCM GRCh38.p13 chrX 152868816 152868816 + T T - Frame_Shift_Del DEL ENST00000370274.8 exon8 c.822delT p.F275Sfs*9 exonic ENSG00000147383.11 . frameshift deletion ENSG00000147383.11:ENST00000370274.8:exon8:c.822delT:p.F275Sfs*9 Xq28 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NSDHL 184 0 67 58 0.464 TRUE TRUE +ENSG00000082014.16 . BCM GRCh38.p13 chr7 151241491 151241491 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000082014.16 ENST00000262188.12:exon8:c.939+1G>A . . 7q36.1 C3L-00799 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.144 33 0.994 D . 1.182 22.187 1.028 20.692 1.000 0.076 0.094 0.069 0.127 0.989 5.160 5.160 7.905 1.026 0.599 1.000 0.999 0.998 894 . . . . SMARCD3 664 0 268 90 0.251396648044693 TRUE TRUE +ENSG00000164068.16 . BCM GRCh38.p13 chr3 49720813 49720813 + C C T Silent SNP ENST00000327697.11 exon37 c.C3657T p.I1219I exonic ENSG00000164068.16 . synonymous SNV ENSG00000164068.16:ENST00000327697.11:exon37:c.C3657T:p.I1219I 3p21.31 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF123 310 0 74 44 0.372881355932203 TRUE TRUE +ENSG00000204516.10 . BCM GRCh38.p13 chr6 31506429 31506429 + A A T Silent SNP ENST00000252229.7 exon3 c.A612T p.T204T exonic ENSG00000204516.10 . synonymous SNV ENSG00000204516.10:ENST00000252229.7:exon3:c.A612T:p.T204T 6p21.33 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MICB 146 0 47 18 0.276923076923077 TRUE TRUE +ENSG00000164885.13 . BCM GRCh38.p13 chr7 151055762 151055762 + T T C Silent SNP ENST00000485972.6 exon6 c.A399G p.L133L exonic ENSG00000164885.13 . synonymous SNV ENSG00000164885.13:ENST00000485972.6:exon6:c.A399G:p.L133L 7q36.1 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDK5 251 0 92 25 0.213675213675214 TRUE TRUE +ENSG00000181778.5 . BCM GRCh38.p13 chr9 68540596 68540596 + C C T Silent SNP ENST00000377311.4 exon1 c.G219A p.L73L exonic ENSG00000181778.5 . synonymous SNV ENSG00000181778.5:ENST00000377311.4:exon1:c.G219A:p.L73L 9q21.11 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM252 437 0 103 60 0.368098159509202 TRUE TRUE +ENSG00000184613.10 . BCM GRCh38.p13 chr12 44816015 44816015 + A A G Silent SNP ENST00000429094.6 exon3 c.T306C p.V102V exonic ENSG00000184613.10 . synonymous SNV ENSG00000184613.10:ENST00000429094.6:exon3:c.T306C:p.V102V 12q12 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NELL2 285 0 61 19 0.2375 TRUE TRUE +ENSG00000188626.6 . BCM GRCh38.p13 chr15 28705636 28705636 + G G A Silent SNP ENST00000563027.1 exon12 c.C978T p.V326V exonic ENSG00000188626.6 . synonymous SNV ENSG00000188626.6:ENST00000563027.1:exon12:c.C978T:p.V326V 15q13.1 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GOLGA8M 398 1 186 37 0.165919282511211 NA TRUE +ENSG00000091583.11 . BCM GRCh38.p13 chr17 66226075 66226075 + A A G Silent SNP ENST00000205948.11 exon3 c.T291C p.Y97Y exonic ENSG00000091583.11 . synonymous SNV ENSG00000091583.11:ENST00000205948.11:exon3:c.T291C:p.Y97Y 17q24.2 C3L-00799 7.434e-05 0.0007 0.0002 0 0 0 0 0 rs143248721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APOH 185 0 67 15 0.182926829268293 TRUE NA +ENSG00000187531.14 . BCM GRCh38.p13 chr17 81918087 81918087 + C C T Silent SNP ENST00000328666.11 exon1 c.G45A p.E15E exonic ENSG00000187531.14 . synonymous SNV ENSG00000187531.14:ENST00000328666.11:exon1:c.G45A:p.E15E 17q25.3 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIRT7 285 0 125 49 0.281609195402299 TRUE TRUE +ENSG00000148737.17 . BCM GRCh38.p13 chr10 113089532 113089536 + TGTAT TGTAT - Intron DEL NA NA NA NA intronic ENSG00000148737.17 . . . 10q25.2 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCF7L2 156 0 46 20 0.303030303030303 TRUE TRUE +ENSG00000196167.10 . BCM GRCh38.p13 chr11 111296127 111296127 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000196167.10 . . . 11q23.1 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COLCA1 182 0 59 10 0.144927536231884 TRUE NA +ENSG00000231698.2 . BCM GRCh38.p13 chr11 131370856 131370856 + T T G IGR SNP NA NA NA NA intergenic ENSG00000231698.2;ENSG00000252351.1 dist=19939;dist=14393 . . 11q25 C3L-00799 . . . . . . . . . 5.17 T D P B N D . T N 0.715 T T T 0.150 0.525 0.558 . . . T T D T 3.436 24.500 0.988 D D 0.080 2.807 0.223 3.298 1.000 0.653 0.563 0.676 0.564 . 6.070 6.070 4.210 1.138 0.665 1.000 1.000 0.996 968 . . . . AP002856.2 229 0 124 28 0.184210526315789 TRUE TRUE +ENSG00000227303.1 . BCM GRCh38.p13 chrX 143508814 143508814 + A A T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000227303.1 . . . Xq27.3 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC239727.1 68 0 22 14 0.388888888888889 TRUE NA +ENSG00000198131.14 . BCM GRCh38.p13 chr19 58261080 58261081 + GC GC TA Unknown MNP ENST00000269829.5 exon4 c.474_475delinsTA p.E158_L159delinsDI exonic ENSG00000198131.14 . nonframeshift substitution ENSG00000198131.14:ENST00000269829.5:exon4:c.474_475delinsTA:p.E158_L159delinsDI 19q13.43 C3L-00799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF544 220 16 98 16 0.140350877192982 TRUE TRUE +ENSG00000153904.20 . BCM GRCh38.p13 chr1 85350465 85350465 + G G A Missense_Mutation SNP ENST00000284031.13 exon4 c.C547T p.P183S exonic ENSG00000153904.20 . nonsynonymous SNV ENSG00000153904.20:ENST00000284031.13:exon4:c.C547T:p.P183S 1p22.3 C3L-00800 . . . . . . . . . 13.19 D T D P D D M . D 0.781 T T T 0.408 0.621 0.748 1.055 T D D D D D 4.009 27.000 0.999 D D 0.770 8.213 0.794 9.950 1.000 0.706 0.588 0.710 0.714 . 5.650 5.650 9.564 1.176 0.676 1.000 0.998 0.999 899 . . . ID=COSV52306784;OCCURENCE=1(liver) DDAH1 152 0 195 12 0.0579710144927536 TRUE TRUE +ENSG00000057252.13 . BCM GRCh38.p13 chr1 179335623 179335623 + G G T Missense_Mutation SNP ENST00000367619.8 exon4 c.G295T p.V99F exonic ENSG00000057252.13 . nonsynonymous SNV ENSG00000057252.13:ENST00000367619.8:exon4:c.G295T:p.V99F 1q25.2 C3L-00800 . . . . . . . . . 3.20 D T B B N D L T N 0.265 T T T 0.029 0.282 0.055 0.275 T T T T T T 1.630 16.570 0.976 D N -0.970 0.437 -0.913 0.602 0.066 0.732 0.744 0.618 0.613 . 5.240 -3.560 0.472 -0.101 -0.104 0.992 0.995 0.994 553 . . . . SOAT1 129 1 139 10 0.0671140939597315 TRUE TRUE +ENSG00000138079.14 . BCM GRCh38.p13 chr2 44275869 44275869 + C C - Frame_Shift_Del DEL ENST00000260649.11 exon1 c.334delC p.P112Qfs*4 exonic ENSG00000138079.14 . frameshift deletion ENSG00000138079.14:ENST00000260649.11:exon1:c.334delC:p.P112Qfs*4 2p21 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC3A1 338 0 390 105 0.212121212121212 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178728341 178728341 + C C A Missense_Mutation SNP ENST00000591111.5 exon65 c.G18532T p.G6178C exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon65:c.G18532T:p.G6178C 2q31.2 C3L-00800 . . . . . . . . . 12.16 T . D D . D . D D 0.548 D D D 0.869 0.786 0.867 0.475 T . D T D T 3.292 24.100 0.922 D D 1.023 14.670 0.909 14.124 1.000 0.487 0.574 0.547 0.564 . 5.870 4.980 7.860 1.026 0.599 1.000 0.996 0.997 343 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 53 0 45 6 0.117647058823529 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142008 10142008 + - NA G Frame_Shift_Ins NA ENST00000256474.3 exon1 c.162dupG p.E55Gfs*77 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon1:c.162dupG:p.E55Gfs*77 3p25.3 C3L-00800 . . . . . . . . rs869025615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000170017.12 . BCM GRCh38.p13 chr3 105533678 105533678 + C C T Missense_Mutation SNP ENST00000306107.9 exon5 c.C535T p.P179S exonic ENSG00000170017.12 . nonsynonymous SNV ENSG00000170017.12:ENST00000306107.9:exon5:c.C535T:p.P179S 3q13.11 C3L-00800 . . . . . . . . . 3.20 D D P P N N L T N 0.217 T T T 0.035 0.400 0.254 0.208 T D T T T T 1.752 17.390 0.998 N N -0.274 1.679 -0.346 1.472 1.000 0.732 0.725 0.710 0.728 . 5.840 2.990 1.064 0.948 0.530 0.022 0.991 0.980 655 CD80-like,_immunoglobulin_C2-set;Immunoglobulin-like_domain . . ID=COSV60254056;OCCURENCE=1(skin) ALCAM 105 0 93 5 0.0510204081632653 TRUE NA +ENSG00000114416.18 . BCM GRCh38.p13 chr3 180968158 180968158 + C C T Missense_Mutation SNP ENST00000357559.9 exon14 c.C1306T p.R436C exonic ENSG00000114416.18 . nonsynonymous SNV ENSG00000114416.18:ENST00000357559.9:exon14:c.C1306T:p.R436C 3q26.33 C3L-00800 . . . . . . . . . 12.20 D D D D D D L T D 0.310 T T T 0.229 0.224 0.519 1.355 D T T T D D 4.196 28.600 0.999 D D 0.525 5.232 0.562 5.777 1.000 0.707 0.725 0.702 0.714 . 5.510 5.510 2.872 1.026 0.549 1.000 1.000 0.999 664 Fragile_X-related_1_protein,_C-terminal_core . . ID=COSV99976053;OCCURENCE=1(stomach) FXR1 320 0 430 32 0.0692640692640693 TRUE TRUE +ENSG00000137449.16 . BCM GRCh38.p13 chr4 15007402 15007402 + G G A Missense_Mutation SNP ENST00000538197.6 exon2 c.G1760A p.R587K exonic ENSG00000137449.16 . nonsynonymous SNV ENSG00000137449.16:ENST00000538197.6:exon2:c.G1760A:p.R587K 4p15.32 C3L-00800 . . . . . . . . . 15.19 D T D D D D M T N 0.814 D D D 0.427 0.320 0.895 1.062 D T D D D . 4.085 27.600 0.997 D D 0.851 9.870 0.843 11.532 1.000 0.609 0.628 0.535 0.655 . 5.330 5.330 9.602 1.176 0.676 1.000 0.979 0.996 571 . . . . CPEB2 57 0 53 8 0.131147540983607 TRUE TRUE +ENSG00000169851.15 . BCM GRCh38.p13 chr4 30722711 30722711 + C C T Missense_Mutation SNP ENST00000361762.3 exon1 c.C1289T p.A430V exonic ENSG00000169851.15 . nonsynonymous SNV ENSG00000169851.15:ENST00000361762.3:exon1:c.C1289T:p.A430V 4p15.1 C3L-00800 . . . . . . . . rs868551664 7.19 T T D D . D N T N 0.758 T T T 0.257 0.605 0.528 . T T T T D D 3.164 23.800 0.984 D D 0.459 4.730 0.527 5.410 1.000 0.658 0.590 0.619 0.373 . 5.480 5.480 5.055 1.026 0.599 1.000 1.000 0.974 488 Cadherin-like . . ID=COSV100688422;OCCURENCE=1(upper_aerodigestive_tract) PCDH7 152 0 141 9 0.06 TRUE NA +ENSG00000134853.12 . BCM GRCh38.p13 chr4 54267454 54267454 + G G C Missense_Mutation SNP ENST00000257290.10 exon6 c.G925C p.V309L exonic ENSG00000134853.12 . nonsynonymous SNV ENSG00000134853.12:ENST00000257290.10:exon6:c.G925C:p.V309L 4q12 C3L-00800 . . . . . . . . . 17.20 D D D D U D M D D 0.860 D D D 0.657 0.557 0.908 1.035 T T D D D D 3.955 26.700 0.999 D D 0.889 10.765 0.858 12.081 1.000 0.487 0.574 0.574 0.632 . 5.790 5.790 8.992 1.146 0.676 1.000 0.888 0.431 443 Immunoglobulin_subtype . . . PDGFRA 280 0 271 39 0.125806451612903 TRUE TRUE +ENSG00000118777.12 . BCM GRCh38.p13 chr4 88139862 88139862 + C C T Missense_Mutation SNP ENST00000237612.8 exon2 c.G134A p.R45Q exonic ENSG00000118777.12 . nonsynonymous SNV ENSG00000118777.12:ENST00000237612.8:exon2:c.G134A:p.R45Q 4q22.1 C3L-00800 1.662e-05 0 0 0 0 1.509e-05 0 6.112e-05 rs142634180 2.20 T T B B N N L D N 0.081 T T T 0.085 . 0.503 0.033 T T T T T D 1.880 18.340 0.981 N N -0.664 0.875 -0.549 1.125 0.994 0.615 0.610 0.659 0.568 . 5.410 2.310 0.030 1.026 0.547 0.657 0.995 0.972 611 ABC_transporter-like . . ID=COSV52943206;OCCURENCE=1(endometrium) ABCG2 218 0 206 26 0.112068965517241 TRUE TRUE +ENSG00000184108.8 . BCM GRCh38.p13 chr4 188147281 188147281 + A A T Missense_Mutation SNP ENST00000332517.4 exon6 c.A1316T p.E439V exonic ENSG00000184108.8 . nonsynonymous SNV ENSG00000184108.8:ENST00000332517.4:exon6:c.A1316T:p.E439V 4q35.2 C3L-00800 . . . . . . . . . 7.20 D T P P N D M T D 0.387 T T D 0.412 0.644 0.693 0.131 T T T T D T 2.165 20.600 0.990 D N 0.179 3.210 0.117 2.804 0.002 0.487 0.574 0.547 0.613 . 5.050 3.940 1.383 0.305 0.738 0.145 0.002 0.007 981 0.000 . . . TRIML1 29 0 21 9 0.3 TRUE TRUE +ENSG00000113658.18 . BCM GRCh38.p13 chr5 136163280 136163280 + C C A Missense_Mutation SNP ENST00000545279.6 exon5 c.C664A p.P222T exonic ENSG00000113658.18 . nonsynonymous SNV ENSG00000113658.18:ENST00000545279.6:exon5:c.C664A:p.P222T 5q31.1 C3L-00800 . . . . . . . . . 16.18 T T . . D D M D D 0.690 D D D 0.586 0.236 0.668 0.143 D D D D D D 3.606 25.100 0.996 D D 0.649 6.460 0.629 6.612 1.000 0.732 0.709 0.744 0.728 . 6.040 5.170 7.337 1.026 0.599 1.000 0.982 0.987 745 . . . . SMAD5 86 0 86 6 0.0652173913043478 TRUE TRUE +ENSG00000255408.4 . BCM GRCh38.p13 chr5 140802414 140802414 + C C T Missense_Mutation SNP ENST00000522353.3 exon1 c.C1217T p.S406L exonic ENSG00000255408.4 . nonsynonymous SNV ENSG00000255408.4:ENST00000522353.3:exon1:c.C1217T:p.S406L 5q31.3 C3L-00800 . . . . . . . . . 8.19 D D D D U N L T D 0.480 T T D 0.163 0.586 0.739 . . T T T D D 2.869 23.100 0.998 N N 0.167 3.159 0.063 2.590 0.945 0.615 0.588 0.659 0.530 . 4.790 4.790 0.045 1.002 0.545 0.000 0.986 0.607 18 Cadherin-like . . . PCDHA3 319 1 443 95 0.176579925650558 NA TRUE +ENSG00000164609.10 . BCM GRCh38.p13 chr5 160415186 160415198 + TCTTCTTTCTCCA TCTTCTTTCTCCA - Frame_Shift_Del DEL ENST00000297151.9 exon2 c.97_109del p.W33Rfs*3 exonic ENSG00000164609.10 . frameshift deletion ENSG00000164609.10:ENST00000297151.9:exon2:c.97_109del:p.W33Rfs*3 5q33.3 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLU7 139 0 113 9 0.0737704918032787 TRUE TRUE +ENSG00000113262.16 . BCM GRCh38.p13 chr5 178986207 178986207 + T T C Missense_Mutation SNP ENST00000517717.3 exon9 c.A2047G p.K683E exonic ENSG00000113262.16 . nonsynonymous SNV ENSG00000113262.16:ENST00000517717.3:exon9:c.A2047G:p.K683E 5q35.3 C3L-00800 . . . . . . . . . 14.19 D T D P . D M D N 0.530 D D D 0.835 0.615 0.936 0.451 T T D D D D 4.347 30 0.999 D D 0.664 6.650 0.634 6.682 1.000 0.487 0.574 0.547 0.613 . 5.020 5.020 6.167 1.062 0.576 1.000 0.986 0.993 734 GPCR_family_3,_C-terminal . . . GRM6 122 0 210 34 0.139344262295082 TRUE TRUE +ENSG00000124493.14 . BCM GRCh38.p13 chr6 34062019 34062019 + C C T Missense_Mutation SNP ENST00000538487.7 exon4 c.G746A p.C249Y exonic ENSG00000124493.14 . nonsynonymous SNV ENSG00000124493.14:ENST00000538487.7:exon4:c.G746A:p.C249Y 6p21.31 C3L-00800 . . . . . . . . . 19.20 D D D D N D H D D 0.990 D D D 0.781 0.540 0.970 0.990 D D D D D D 3.966 26.800 0.998 D D 0.841 9.645 0.711 7.972 1.000 0.744 0.611 0.630 0.613 . 4.010 4.010 6.062 1.010 0.519 1.000 1.000 0.978 862 Receptor,_ligand_binding_region . . . GRM4 42 0 45 6 0.117647058823529 TRUE TRUE +ENSG00000006747.15 . BCM GRCh38.p13 chr7 12644679 12644679 + T T A Missense_Mutation SNP ENST00000297029.10 exon13 c.T1855A p.C619S exonic ENSG00000006747.15 . nonsynonymous SNV ENSG00000006747.15:ENST00000297029.10:exon13:c.T1855A:p.C619S 7p21.3 C3L-00800 . . . . . . . . . 15.20 D D D D D D M T D 0.910 T T D 0.721 0.841 0.300 0.033 T T D D D D 3.800 25.800 0.992 D D 0.773 8.270 0.640 6.757 1.000 0.554 0.574 0.602 0.613 . 5.210 5.210 7.583 1.138 0.665 1.000 0.984 0.883 889 . . . . SCIN 130 1 105 24 0.186046511627907 TRUE TRUE +ENSG00000137561.5 . BCM GRCh38.p13 chr8 63085990 63085990 + C C A Missense_Mutation SNP ENST00000260116.5 exon1 c.G32T p.G11V exonic ENSG00000137561.5 . nonsynonymous SNV ENSG00000137561.5:ENST00000260116.5:exon1:c.G32T:p.G11V 8q12.3 C3L-00800 . . . . . . . . . 3.20 T T B B N N M T N 0.314 T T D 0.094 0.411 0.692 0.213 D T T T T T 1.518 15.850 0.880 N N -0.729 0.764 -0.824 0.725 1.000 0.598 0.596 0.607 0.555 . 4.110 0.965 2.332 0.897 0.515 0.499 0.063 0.079 893 . . . . TTPA 110 0 187 10 0.050761421319797 TRUE NA +ENSG00000170324.21 . BCM GRCh38.p13 chr10 48187279 48187279 + G G A Missense_Mutation SNP ENST00000374201.8 exon17 c.C2179T p.R727W exonic ENSG00000170324.21 . nonsynonymous SNV ENSG00000170324.21:ENST00000374201.8:exon17:c.C2179T:p.R727W 10q11.22 C3L-00800 1.693e-05 0 0 0.0001 0 0 0 6.296e-05 rs115907611 4.19 T D D P . N L T D 0.218 T T T 0.193 . 0.517 0.031 T T T T D T 2.448 22.300 0.993 N N -0.195 1.892 -0.293 1.580 0.998 0.516 0.610 0.547 0.542 . 4.060 2.140 1.251 -0.184 0.676 0.288 0.000 0.673 982 . . . ID=COSV59719953;OCCURENCE=1(large_intestine) FRMPD2 160 0 127 21 0.141891891891892 TRUE TRUE +ENSG00000184613.10 . BCM GRCh38.p13 chr12 44777109 44777109 + T T C Missense_Mutation SNP ENST00000429094.6 exon7 c.A695G p.N232S exonic ENSG00000184613.10 . nonsynonymous SNV ENSG00000184613.10:ENST00000429094.6:exon7:c.A695G:p.N232S 12q12 C3L-00800 5.767e-05 0 0 0 0 0.0001 0 0 rs145137395 7.20 T D P B D D L T N 0.439 T T T 0.147 . 0.479 0.206 D T T T T D 2.773 23.000 0.903 D D 0.049 2.691 0.215 3.256 0.997 0.706 0.588 0.710 0.564 . 5.620 5.620 6.271 1.138 0.665 1.000 1.000 0.999 752 . . . . NELL2 176 0 131 16 0.108843537414966 TRUE NA +ENSG00000171435.14 . BCM GRCh38.p13 chr12 117761089 117761089 + G G A Missense_Mutation SNP ENST00000339824.7 exon4 c.C908T p.P303L exonic ENSG00000171435.14 . nonsynonymous SNV ENSG00000171435.14:ENST00000339824.7:exon4:c.C908T:p.P303L 12q24.23 C3L-00800 . . . . . . . . rs772270920 16.20 D D D D D D M T D 0.946 T T D 0.578 0.440 0.782 1.719 D T D D D D 4.229 28.900 0.999 D D 0.837 9.554 0.812 10.477 1.000 0.581 0.574 0.576 0.613 . 5.140 5.140 9.564 1.176 0.618 1.000 0.944 0.951 872 . . . ID=COSV60382735;OCCURENCE=2(stomach) KSR2 206 0 271 25 0.0844594594594595 TRUE TRUE +ENSG00000127152.18 . BCM GRCh38.p13 chr14 99175872 99175872 + G G A Missense_Mutation SNP ENST00000357195.8 exon4 c.C964T p.R322C exonic ENSG00000127152.18 . nonsynonymous SNV ENSG00000127152.18:ENST00000357195.8:exon4:c.C964T:p.R322C 14q32.2 C3L-00800 . . . . . . . . . 14.20 D T D D D D M T D 0.784 T T D 0.227 0.368 0.760 1.671 D D T T D D 3.562 24.900 0.999 D D 0.391 4.291 0.382 4.236 1.000 0.554 0.588 0.576 0.563 . 4.460 3.570 5.489 1.078 0.583 1.000 0.996 0.931 986 . . . . BCL11B 8 0 11 4 0.266666666666667 TRUE NA +ENSG00000254585.5 . BCM GRCh38.p13 chr15 23646418 23646418 + G G A Missense_Mutation SNP ENST00000650528.1 exon1 c.C1325T p.P442L exonic ENSG00000254585.5 . nonsynonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.C1325T:p.P442L 15q11.2 C3L-00800 . . . . . . . . . 1.7 . D . . . . . . . 0.253 . . . . . 0.068 . T T T T . T 2.506 22.400 0.962 N . . . . . 0.964 0.111 0.063 0.120 0.063 0.056 1.830 1.830 0.677 0.762 0.513 0.022 0.023 0.052 988 . . . ID=COSV58568763;OCCURENCE=2(large_intestine) MAGEL2 11 0 9 4 0.307692307692308 TRUE NA +ENSG00000074410.14 . BCM GRCh38.p13 chr15 63381698 63381698 + G G A Missense_Mutation SNP ENST00000178638.8 exon1 c.C23T p.A8V exonic ENSG00000074410.14 . nonsynonymous SNV ENSG00000074410.14:ENST00000178638.8:exon1:c.C23T:p.A8V 15q22.2 C3L-00800 . . . . . . . . . 6.20 D D D P N N L D N 0.338 T T D 0.261 0.356 0.849 0.158 T T T T T D 1.237 13.920 0.996 N N -0.404 1.374 -0.489 1.220 1.000 0.652 0.596 0.474 0.710 . 4.490 3.560 0.891 0.145 -0.270 0.020 0.002 0.010 615 Alpha_carbonic_anhydrase_domain . . . CA12 128 0 128 47 0.268571428571429 TRUE TRUE +ENSG00000008710.20 . BCM GRCh38.p13 chr16 2090301 2090301 + A A C Missense_Mutation SNP ENST00000262304.9 exon45 c.T12428G p.L4143R exonic ENSG00000008710.20 . nonsynonymous SNV ENSG00000008710.20:ENST00000262304.9:exon45:c.T12428G:p.L4143R 16p13.3 C3L-00800 . . . . . . . . . 9.20 D D D P N N L T D 0.597 T T D 0.214 0.509 0.658 . T D T T D T 4.184 28.500 0.997 D D 0.348 4.039 0.328 3.886 1.000 0.742 0.702 0.775 0.563 . 4.020 2.890 6.798 1.117 0.582 1.000 1.000 0.992 774 . . . . PKD1 86 0 72 28 0.28 TRUE TRUE +ENSG00000196296.14 . BCM GRCh38.p13 chr16 28898070 28898070 + A A G Missense_Mutation SNP ENST00000357084.7 exon13 c.A1490G p.Y497C exonic ENSG00000196296.14 . nonsynonymous SNV ENSG00000196296.14:ENST00000357084.7:exon13:c.A1490G:p.Y497C 16p11.2 C3L-00800 . . . . . . . . . 18.20 D T D D D D L D D 0.941 D D D 0.850 0.513 0.967 1.449 D D D D D D 4.156 28.200 0.998 D D 0.687 6.944 0.675 7.313 1.000 0.713 0.588 0.609 0.605 . 5.350 5.350 7.493 0.315 0.751 1.000 0.966 0.993 363 . . . . ATP2A1 476 0 558 115 0.170876671619614 TRUE TRUE +ENSG00000133026.13 . BCM GRCh38.p13 chr17 8548669 8548669 + C C T Missense_Mutation SNP ENST00000269243.8 exon9 c.G1008A p.M336I exonic ENSG00000133026.13 . nonsynonymous SNV ENSG00000133026.13:ENST00000269243.8:exon9:c.G1008A:p.M336I 17p13.1 C3L-00800 . . . . . . . . . 16.20 D D P P D D L D D 0.830 D D D 0.858 0.602 0.976 2.214 T D D D D D 3.694 25.400 0.997 D D 0.649 6.461 0.677 7.344 1.000 0.719 0.670 0.725 0.734 . 5.400 5.400 7.905 1.026 0.549 1.000 0.995 0.878 615 Myosin_head,_motor_domain . . . MYH10 108 0 60 13 0.178082191780822 TRUE TRUE +ENSG00000108798.9 . BCM GRCh38.p13 chr17 49217888 49217888 + C C G Missense_Mutation SNP ENST00000225941.6 exon3 c.C435G p.C145W exonic ENSG00000108798.9 . nonsynonymous SNV ENSG00000108798.9:ENST00000225941.6:exon3:c.C435G:p.C145W 17q21.32 C3L-00800 . . . . . . . . . 10.20 D D D D N D L T D 0.607 T T T 0.211 0.663 0.748 0.375 T T T T D D 4.047 27.300 0.990 D D 0.609 6.017 0.596 6.171 1.000 0.731 0.750 0.585 0.714 . 4.930 4.930 2.370 1.026 0.599 1.000 1.000 0.985 678 Abl-interactor,_homeo-domain_homologous_domain . . . ABI3 75 1 73 11 0.130952380952381 TRUE TRUE +ENSG00000129351.17 . BCM GRCh38.p13 chr19 10671167 10671167 + A A C Missense_Mutation SNP ENST00000590261.5 exon2 c.A197C p.D66A exonic ENSG00000129351.17 . nonsynonymous SNV ENSG00000129351.17:ENST00000590261.5:exon2:c.A197C:p.D66A 19p13.2 C3L-00800 . . . . . . . . . 5.20 D T P B D D L T N 0.168 T T T 0.062 0.164 0.509 2.123 T T T T T T 2.285 21.500 0.934 D D -0.247 1.749 -0.126 1.974 1.000 0.672 0.702 0.702 0.711 . 5.650 5.650 3.907 1.308 0.756 0.997 0.073 0.048 730 DZF_domain . . . ILF3 150 0 218 18 0.076271186440678 TRUE TRUE +ENSG00000105137.13 . BCM GRCh38.p13 chr19 15112389 15112389 + C C - Frame_Shift_Del DEL ENST00000342784.7 exon7 c.1622delC p.F542Sfs*7 exonic ENSG00000105137.13 . frameshift deletion ENSG00000105137.13:ENST00000342784.7:exon7:c.1622delC:p.F542Sfs*7 19p13.12 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYDE1 176 0 155 39 0.201030927835052 TRUE TRUE +ENSG00000171903.16 . BCM GRCh38.p13 chr19 15914838 15914838 + C C A Missense_Mutation SNP ENST00000402119.8 exon9 c.G1173T p.L391F exonic ENSG00000171903.16 . nonsynonymous SNV ENSG00000171903.16:ENST00000402119.8:exon9:c.G1173T:p.L391F 19p13.12 C3L-00800 . . . . . . . . . 12.20 D D D D U D H T D 0.577 D D T 0.512 0.802 0.632 0.224 T T T T D D 2.732 22.900 0.995 D N 0.108 2.918 -0.124 1.979 0.000 0.487 0.574 0.578 0.564 . 2.740 2.740 -0.257 -0.031 0.309 0.638 0.672 0.124 976 . . . . CYP4F11 146 0 183 36 0.164383561643836 TRUE NA +ENSG00000171903.16 . BCM GRCh38.p13 chr19 15923972 15923972 + C C T Missense_Mutation SNP ENST00000402119.8 exon6 c.G758A p.G253E exonic ENSG00000171903.16 . nonsynonymous SNV ENSG00000171903.16:ENST00000402119.8:exon6:c.G758A:p.G253E 19p13.12 C3L-00800 . . . . . . . . . 12.20 D D D D U D H T D 0.840 D T T 0.457 0.774 0.749 0.248 T T T T D D 2.735 22.900 0.996 D D 0.339 3.987 0.108 2.769 0.472 0.487 0.590 0.574 0.564 . 2.670 2.670 4.691 0.763 0.304 0.998 0.004 0.004 976 . . . . CYP4F11 306 0 378 35 0.0847457627118644 TRUE TRUE +ENSG00000125998.8 . BCM GRCh38.p13 chr20 35287563 35287563 + G G A Missense_Mutation SNP ENST00000374408.4 exon4 c.C1216T p.P406S exonic ENSG00000125998.8 . nonsynonymous SNV ENSG00000125998.8:ENST00000374408.4:exon4:c.C1216T:p.P406S 20q11.22 C3L-00800 . . . . . . . . . 0.20 T T B B N N L T N 0.079 T T T 0.021 0.283 0.182 0.188 T T T T T T 0.095 2.048 0.687 N N -1.231 0.206 -1.228 0.260 1.000 0.581 0.574 0.576 0.613 . 4.730 1.170 -0.092 0.198 -0.135 0.000 0.534 0.402 413 . . . . FAM83C 171 1 149 66 0.306976744186047 TRUE TRUE +ENSG00000130699.18 . BCM GRCh38.p13 chr20 62064485 62064485 + G G T Missense_Mutation SNP ENST00000252996.8 exon1 c.C1326A p.N442K exonic ENSG00000130699.18 . nonsynonymous SNV ENSG00000130699.18:ENST00000252996.8:exon1:c.C1326A:p.N442K 20q13.33 C3L-00800 . . . . . . . . . 5.20 D T P B U D L T N 0.527 T T D 0.068 0.345 0.519 1.344 D T T T T T 2.461 22.300 0.950 D N -0.315 1.577 -0.309 1.545 1.000 0.726 0.628 0.594 0.604 . 2.750 1.540 1.343 -0.361 -0.316 1.000 0.994 0.964 934 . . . . TAF4 30 0 35 9 0.204545454545455 TRUE TRUE +ENSG00000092758.18 . BCM GRCh38.p13 chr20 62828960 62828960 + G G A Missense_Mutation SNP ENST00000649368.1 exon19 c.G992A p.G331D exonic ENSG00000092758.18 . nonsynonymous SNV ENSG00000092758.18:ENST00000649368.1:exon19:c.G992A:p.G331D 20q13.33 C3L-00800 . . . . . . . . . 18.20 D D D D D D H D D 0.968 D D D 0.980 0.872 0.934 0.475 T T D D D D 3.911 26.400 0.998 D D 0.800 8.787 0.667 7.175 1.000 0.696 0.547 0.723 0.613 . 4.450 4.450 1.598 1.166 0.665 0.975 0.998 0.543 878 . . . . COL9A3 184 0 244 13 0.0505836575875486 TRUE TRUE +ENSG00000133454.16 . BCM GRCh38.p13 chr22 25921266 25921266 + C C T Missense_Mutation SNP ENST00000335473.12 exon34 c.C5374T p.R1792W exonic ENSG00000133454.16 . nonsynonymous SNV ENSG00000133454.16:ENST00000335473.12:exon34:c.C5374T:p.R1792W 22q12.1 C3L-00800 . . . . . . . . rs369862472 20.20 D D D D D D M D D 0.817 D D D 0.595 . 0.886 0.405 D D D D D D 4.226 28.900 0.999 D D 0.566 5.598 0.511 5.264 1.000 0.653 0.590 0.676 0.564 . 5.230 4.190 3.239 1.022 0.596 1.000 0.999 0.990 976 . . . ID=COSV100123456;OCCURENCE=1(breast),1(stomach) MYO18B 58 0 60 6 0.0909090909090909 TRUE NA +ENSG00000160131.13 . BCM GRCh38.p13 chrX 151404967 151404967 + C C T Missense_Mutation SNP ENST00000330374.6 exon3 c.C215T p.A72V exonic ENSG00000160131.13 . nonsynonymous SNV ENSG00000160131.13:ENST00000330374.6:exon3:c.C215T:p.A72V Xq28 C3L-00800 . . . . . . . . . 15.18 D D D D N D M . D 0.854 D D D 0.904 0.581 0.999 1.858 D T D D D T 3.825 26.000 0.999 D . . . . . 1.000 . . . . . 5.800 5.800 7.870 1.012 0.599 1.000 0.989 0.994 728 . . . . VMA21 111 0 114 109 0.488789237668161 TRUE TRUE +ENSG00000182601.7 . BCM GRCh38.p13 chr16 26135611 26135611 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000182601.7 ENST00000331351.6:exon2:c.735-1G>T . . 16p12.1 C3L-00800 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.872 35 0.994 D . 1.124 18.629 0.942 15.682 1.000 0.078 0.063 0.084 0.057 0.965 5.020 5.020 9.961 1.176 0.676 1.000 0.804 0.522 970 . . . . HS3ST4 48 0 48 6 0.111111111111111 TRUE TRUE +ENSG00000050628.20 . BCM GRCh38.p13 chr1 70974320 70974320 + C C T Silent SNP ENST00000306666.9 exon3 c.G1146A p.L382L exonic ENSG00000050628.20 . synonymous SNV ENSG00000050628.20:ENST00000306666.9:exon3:c.G1146A:p.L382L 1p31.1 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTGER3 126 0 121 40 0.248447204968944 TRUE TRUE +ENSG00000162849.16 . BCM GRCh38.p13 chr1 245366902 245366902 + C C T Silent SNP ENST00000407071.7 exon3 c.C534T p.N178N exonic ENSG00000162849.16 . synonymous SNV ENSG00000162849.16:ENST00000407071.7:exon3:c.C534T:p.N178N 1q44 C3L-00800 0.0007 0.0006 0.0002 0.0001 0 0.0003 0 0.0035 rs371384388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68572503;OCCURENCE=3(oesophagus) KIF26B 164 0 163 51 0.238317757009346 TRUE TRUE +ENSG00000076053.10 . BCM GRCh38.p13 chr11 114402853 114402853 + C C T Silent SNP ENST00000540163.5 exon3 c.C285T p.V95V exonic ENSG00000076053.10;ENSG00000255663.1 . synonymous SNV ENSG00000076053.10:ENST00000540163.5:exon3:c.C285T:p.V95V 11q23.2 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM7 110 0 77 13 0.144444444444444 TRUE TRUE +ENSG00000183379.9 . BCM GRCh38.p13 chr14 74409538 74409538 + C C T Silent SNP ENST00000331628.8 exon2 c.G207A p.R69R exonic ENSG00000183379.9 . synonymous SNV ENSG00000183379.9:ENST00000331628.8:exon2:c.G207A:p.R69R 14q24.3 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNDIG1L 34 0 45 14 0.23728813559322 TRUE TRUE +ENSG00000007516.14 . BCM GRCh38.p13 chr16 1338639 1338639 + G G A Silent SNP ENST00000324385.9 exon2 c.G195A p.G65G exonic ENSG00000007516.14 . synonymous SNV ENSG00000007516.14:ENST00000324385.9:exon2:c.G195A:p.G65G 16p13.3 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAIAP3 118 0 148 10 0.0632911392405063 TRUE TRUE +ENSG00000188176.12 . BCM GRCh38.p13 chr17 4584788 4584788 + C C T Silent SNP ENST00000389313.9 exon1 c.C183T p.A61A exonic ENSG00000188176.12 . synonymous SNV ENSG00000188176.12:ENST00000389313.9:exon1:c.C183T:p.A61A 17p13.2 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMTNL2 16 0 36 9 0.2 TRUE TRUE +ENSG00000007047.15 . BCM GRCh38.p13 chr19 45294414 45294414 + T T C Silent SNP ENST00000262891.9 exon14 c.T1560C p.A520A exonic ENSG00000007047.15 . synonymous SNV ENSG00000007047.15:ENST00000262891.9:exon14:c.T1560C:p.A520A 19q13.32 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARK4 163 0 221 27 0.108870967741935 TRUE TRUE +ENSG00000178028.14 . BCM GRCh38.p13 chr1 44215025 44215025 + A A G Intron SNP NA NA NA NA intronic ENSG00000178028.14 . . . 1p34.1 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMAP1 144 0 165 40 0.195121951219512 TRUE NA +ENSG00000189275.4 . BCM GRCh38.p13 chr10 131775578 131775578 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000189275.4 . . . 10q26.3 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01164 62 2 60 7 0.104477611940299 TRUE NA +ENSG00000128908.17 . BCM GRCh38.p13 chr15 41023331 41023331 + G G A Intron SNP NA NA NA NA intronic ENSG00000128908.17 . . . 15q15.1 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INO80 160 0 152 40 0.208333333333333 TRUE NA +ENSG00000007376.8 . BCM GRCh38.p13 chr16 788312 788312 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000007376.8 ENST00000007264.7:c.-575G>A . . 16p13.3 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPUSD1 13 0 17 14 0.451612903225806 TRUE TRUE +ENSG00000199961.1 . BCM GRCh38.p13 chr17 76561121 76561121 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199961.1 . . . 17q25.1 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD1B 116 0 129 32 0.198757763975155 TRUE NA +ENSG00000100379.17 . BCM GRCh38.p13 chr22 37057368 37057368 + G G A Intron SNP NA NA NA NA intronic ENSG00000100379.17 . . . 22q12.3 C3L-00800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD17 220 0 295 26 0.0809968847352025 TRUE NA +ENSG00000074964.17 . BCM GRCh38.p13 chr1 17656619 17656619 + T T C Missense_Mutation SNP ENST00000361221.8 exon25 c.T2771C p.L924P exonic ENSG00000074964.17 . nonsynonymous SNV ENSG00000074964.17:ENST00000361221.8:exon25:c.T2771C:p.L924P 1p36.13 C3L-00812 . . . . . . . . . 2.20 T T B B N D L T N 0.230 T T T 0.037 0.472 0.243 0.432 T T T T T T 2.353 21.900 0.979 N D -0.622 0.948 -0.504 1.196 0.085 0.707 0.588 0.725 0.568 . 4.720 3.180 0.894 0.200 0.660 0.858 0.981 0.804 883 . . . . ARHGEF10L 135 0 113 24 0.175182481751825 TRUE TRUE +ENSG00000117000.9 . BCM GRCh38.p13 chr1 40237383 40237383 + G G T Missense_Mutation SNP ENST00000372771.5 exon8 c.G2681T p.S894I exonic ENSG00000117000.9 . nonsynonymous SNV ENSG00000117000.9:ENST00000372771.5:exon8:c.G2681T:p.S894I 1p34.2 C3L-00812 . . . . . . . . . 4.20 T T P B D D L T N 0.754 T T T 0.165 0.192 0.604 0.473 T T T T D T 2.411 22.100 0.962 D N 0.349 4.040 0.456 4.780 1.000 0.563 0.654 0.609 0.636 . 5.960 5.960 3.151 1.176 0.676 1.000 1.000 1.000 764 . . . . RLF 135 0 102 19 0.15702479338843 TRUE TRUE +ENSG00000188641.14 . BCM GRCh38.p13 chr1 97593277 97593277 + G G A Missense_Mutation SNP ENST00000370192.8 exon10 c.C1069T p.R357C exonic ENSG00000188641.14 . nonsynonymous SNV ENSG00000188641.14:ENST00000370192.8:exon10:c.C1069T:p.R357C 1p21.3 C3L-00812 8.24e-06 9.614e-05 0 0 0 0 0 0 rs748958293 12.20 D D B B N D M D D 0.486 T D D 0.479 0.707 0.888 0.071 T T T T D D 3.281 24.100 0.998 D D 0.061 2.734 0.138 2.895 0.001 0.638 0.670 0.618 0.668 . 6.170 3.320 5.221 1.176 0.676 1.000 0.894 0.774 838 FAD/NAD(P)-binding_domain . . ID=COSV64589643;OCCURENCE=1(large_intestine),1(skin) DPYD 314 0 212 57 0.211895910780669 TRUE TRUE +ENSG00000155366.17 . BCM GRCh38.p13 chr1 112703089 112703089 + G G A Nonsense_Mutation SNP ENST00000339083.12 exon4 c.C187T p.Q63X exonic ENSG00000155366.17;ENSG00000271810.5 . stopgain ENSG00000155366.17:ENST00000339083.12:exon4:c.C187T:p.Q63X 1p13.2 C3L-00812 . . . . . . . . . 5.6 . . . . D A . . . 0.889 . . . . . . . . . D D . . 8.618 44 0.998 D N 1.231 26.908 1.089 25.839 1.000 0.722 0.696 0.607 0.735 . 5.400 5.400 9.941 1.176 0.676 1.000 1.000 0.997 897 Small_GTP-binding_protein_domain . . . RHOC 149 0 116 36 0.236842105263158 TRUE TRUE +ENSG00000198799.12 . BCM GRCh38.p13 chr1 113094355 113094355 + A A T Nonsense_Mutation SNP ENST00000361127.6 exon5 c.A532T p.R178X exonic ENSG00000198799.12 . stopgain ENSG00000198799.12:ENST00000361127.6:exon5:c.A532T:p.R178X 1p13.2 C3L-00812 . . . . . . . . . 5.6 . . . . D A . . . 0.930 . . . . . . . . . D D . . 6.872 36 0.996 D N 0.543 5.391 0.357 4.069 0.141 0.563 0.546 0.609 0.636 . 5.650 3.140 3.327 1.287 0.754 1.000 0.977 0.775 217 . . . . LRIG2 106 0 65 18 0.216867469879518 TRUE TRUE +ENSG00000000971.16 . BCM GRCh38.p13 chr1 196673130 196673130 + T T C Missense_Mutation SNP ENST00000367429.9 exon2 c.T211C p.W71R exonic ENSG00000000971.16 . nonsynonymous SNV ENSG00000000971.16:ENST00000367429.9:exon2:c.T211C:p.W71R 1q31.3 C3L-00812 . . . . . . . . . 15.18 D D D D . D . D D 0.790 D D D 0.541 0.854 0.910 0.845 T T D D D T 3.516 24.800 0.957 D D 0.377 4.201 0.226 3.311 0.084 0.706 0.574 0.574 0.613 . 5.120 5.120 4.554 1.137 0.665 0.999 0.443 0.010 545 Sushi/SCR/CCP_domain . . . CFH 268 1 202 50 0.198412698412698 TRUE TRUE +ENSG00000159399.10 . BCM GRCh38.p13 chr2 74887935 74887935 + G G T Missense_Mutation SNP ENST00000290573.7 exon16 c.G2252T p.G751V exonic ENSG00000159399.10 . nonsynonymous SNV ENSG00000159399.10:ENST00000290573.7:exon16:c.G2252T:p.G751V 2p12 C3L-00812 . . . . . . . . . 20.20 D D D D D D H D D 0.982 D D D 0.968 0.977 0.987 1.407 D D D D D D 4.266 29.300 0.998 D D 1.069 16.272 0.932 15.174 1.000 0.707 0.725 0.702 0.692 . 4.580 4.580 10.003 1.176 0.676 1.000 0.986 0.985 236 Hexokinase,_C-terminal . . . HK2 297 0 224 61 0.214035087719298 TRUE TRUE +ENSG00000168918.14 . BCM GRCh38.p13 chr2 233158411 233158411 + G G A Missense_Mutation SNP ENST00000445964.6 exon10 c.G1129A p.D377N exonic ENSG00000168918.14 . nonsynonymous SNV ENSG00000168918.14:ENST00000445964.6:exon10:c.G1129A:p.D377N 2q37.1 C3L-00812 . . . . . . . . . 7.14 . T P P . D . . . 0.223 D D D 0.361 0.355 0.649 0.611 T D T T D . 3.011 23.400 0.999 D N 0.333 3.955 0.361 4.096 1.000 0.707 0.702 0.659 0.714 . 4.320 4.320 3.697 1.176 0.676 1.000 1.000 0.997 804 . . . . INPP5D 49 0 49 10 0.169491525423729 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146518 10146518 + C C A Missense_Mutation SNP ENST00000256474.3 exon2 c.C345A p.H115Q exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.C345A:p.H115Q 3p25.3 C3L-00812 . . . . . . . . . 17.19 . D D D D D M D D 0.991 D D D 0.854 0.965 1.000 1.067 D D D D D T 3.025 23.500 0.985 D N 0.229 3.435 0.074 2.629 0.999 0.732 0.686 0.744 0.735 . 5.070 1.090 0.036 0.138 0.599 0.974 1.000 0.997 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56545969;OCCURENCE=2(kidney) VHL 333 0 178 60 0.252100840336134 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52548150 52548163 + GGTGGTGTGGGCCC GGTGGTGTGGGCCC - Frame_Shift_Del DEL ENST00000296302.11 exon30 c.4970_4983del p.G1657Dfs*41 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon30:c.4970_4983del:p.G1657Dfs*41 3p21.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 316 0 138 29 0.173652694610778 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52548167 52548167 + T T G Missense_Mutation SNP ENST00000296302.11 exon30 c.A4966C p.K1656Q exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon30:c.A4966C:p.K1656Q 3p21.1 C3L-00812 . . . . . . . . . 10.20 T T D D D D M T N 0.594 T T T 0.220 0.201 0.479 1.532 D T T T D D 3.565 24.900 0.969 D D 0.701 7.127 0.717 8.080 1.000 0.719 0.725 0.723 0.714 . 5.670 5.670 7.928 1.138 0.665 1.000 1.000 0.998 47 . . . . PBRM1 265 0 128 32 0.2 NA TRUE +ENSG00000183185.9 . BCM GRCh38.p13 chr3 97986888 97986888 + G G T Missense_Mutation SNP ENST00000621172.4 exon10 c.C1199A p.S400Y exonic ENSG00000183185.9 . nonsynonymous SNV ENSG00000183185.9:ENST00000621172.4:exon10:c.C1199A:p.S400Y 3q11.2 C3L-00812 . . . . . . . . . 2.9 . T B P . . . . . 0.434 . . . . . 0.547 . . T T T . T 2.877 23.200 0.989 D D . . . . 0.982 0.497 0.547 0.547 0.542 . 4.940 4.060 2.818 1.176 0.618 0.974 0.981 0.941 783 . . . . GABRR3 269 1 188 53 0.219917012448133 TRUE TRUE +ENSG00000073711.11 . BCM GRCh38.p13 chr3 136003022 136003022 + G G C Missense_Mutation SNP ENST00000264977.8 exon2 c.G1524C p.E508D exonic ENSG00000073711.11 . nonsynonymous SNV ENSG00000073711.11:ENST00000264977.8:exon2:c.G1524C:p.E508D 3q22.3 C3L-00812 . . . . . . . . . 3.20 T T B B D D L T N 0.283 T T T 0.111 0.321 0.082 0.356 T T T T T T 1.033 12.040 0.967 D N -0.464 1.248 -0.341 1.482 0.120 0.615 0.574 0.659 0.655 . 5.590 2.520 1.144 0.224 -0.127 1.000 1.000 0.969 304 . . . . PPP2R3A 125 0 84 17 0.168316831683168 TRUE TRUE +ENSG00000178950.17 . BCM GRCh38.p13 chr4 851765 851765 + G G A Missense_Mutation SNP ENST00000314167.9 exon25 c.C3493T p.R1165C exonic ENSG00000178950.17 . nonsynonymous SNV ENSG00000178950.17:ENST00000314167.9:exon25:c.C3493T:p.R1165C 4p16.3 C3L-00812 8.559e-06 0 0 0 0 1.565e-05 0 0 rs759064696 12.20 D D D D D D M T D 0.726 T T D 0.258 0.347 0.566 0.675 T T T T D D 3.846 26.100 0.999 D N 0.342 4.004 0.233 3.350 0.718 0.707 0.702 0.723 0.714 . 5.210 4.280 2.532 1.176 0.676 1.000 0.009 0.008 769 . . . . GAK 88 0 79 7 0.0813953488372093 TRUE NA +ENSG00000175920.18 . BCM GRCh38.p13 chr4 3493451 3493451 + T T A Missense_Mutation SNP ENST00000340083.6 exon7 c.T1465A p.F489I exonic ENSG00000175920.18 . nonsynonymous SNV ENSG00000175920.18:ENST00000340083.6:exon7:c.T1465A:p.F489I 4p16.3 C3L-00812 . . . . . . . . . 6.20 D T B B N N M T D 0.647 T T D 0.142 0.320 0.614 0.017 T T T T D T 3.009 23.400 0.980 D N -0.123 2.102 -0.218 1.744 1.000 0.598 0.588 0.596 0.563 . 3.770 2.550 3.292 1.045 0.661 1.000 0.672 0.565 900 . . . . DOK7 118 0 174 55 0.240174672489083 TRUE TRUE +ENSG00000163697.17 . BCM GRCh38.p13 chr4 41013644 41013644 + C C G Missense_Mutation SNP ENST00000295974.12 exon6 c.G774C p.E258D exonic ENSG00000163697.17 . nonsynonymous SNV ENSG00000163697.17:ENST00000295974.12:exon6:c.G774C:p.E258D 4p14 C3L-00812 . . . . . . . . . 11.20 D T D D D D M T N 0.645 T T T 0.152 0.077 0.332 1.190 D T T T D D 3.384 24.400 0.998 D D 0.113 2.939 0.130 2.861 1.000 0.707 0.654 0.805 0.714 . 6.040 4.300 1.592 1.026 0.599 1.000 0.986 0.600 807 . . . . APBB2 222 0 153 34 0.181818181818182 TRUE TRUE +ENSG00000126545.14 . BCM GRCh38.p13 chr4 69941053 69941053 + T T A Missense_Mutation SNP ENST00000246891.9 exon12 c.T335A p.L112H exonic ENSG00000126545.14 . nonsynonymous SNV ENSG00000126545.14:ENST00000246891.9:exon12:c.T335A:p.L112H 4q13.3 C3L-00812 . . . . . . . . rs988129829 4.19 D D P B N . L T D 0.242 T T T 0.025 0.145 0.265 0.266 T T T T D T 0.695 8.410 0.949 N N -0.668 0.868 -0.865 0.667 0.000 0.487 0.574 0.574 0.564 . 4.400 -2.310 -1.059 1.118 0.607 0.000 0.048 0.199 940 . . . . CSN1S1 107 0 65 18 0.216867469879518 TRUE NA +ENSG00000170509.12 . BCM GRCh38.p13 chr4 87317182 87317182 + A A C Missense_Mutation SNP ENST00000328546.5 exon3 c.T360G p.N120K exonic ENSG00000170509.12 . nonsynonymous SNV ENSG00000170509.12:ENST00000328546.5:exon3:c.T360G:p.N120K 4q22.1 C3L-00812 . . . . . . . . . 19.20 D D D D D D H D D 0.943 D D D 0.732 0.858 0.918 0.568 T D D D D D 1.687 16.940 0.993 D D -0.097 2.186 -0.419 1.339 1.000 0.487 0.574 0.547 0.564 . 4.810 -6.000 -0.510 -0.372 -0.065 0.141 0.121 0.735 655 . . . . HSD17B13 166 0 118 21 0.151079136690647 TRUE TRUE +ENSG00000164099.3 . BCM GRCh38.p13 chr4 118352537 118352537 + G G C Missense_Mutation SNP ENST00000296498.3 exon1 c.C184G p.L62V exonic ENSG00000164099.3 . nonsynonymous SNV ENSG00000164099.3:ENST00000296498.3:exon1:c.C184G:p.L62V 4q26 C3L-00812 . . . . . . . . . 2.19 T D B B . N N D N 0.206 T T T 0.067 0.351 0.487 0.279 T T T T T T 0.486 6.361 0.922 N N -1.211 0.220 -1.279 0.223 1.000 0.564 0.476 0.504 0.555 . 2.070 -0.679 -0.308 0.769 0.591 0.000 0.003 0.018 935 . . . . PRSS12 70 0 60 18 0.230769230769231 TRUE TRUE +ENSG00000113212.7 . BCM GRCh38.p13 chr5 141173996 141173996 + C C A Missense_Mutation SNP ENST00000231137.6 exon1 c.C1161A p.D387E exonic ENSG00000113212.7 . nonsynonymous SNV ENSG00000113212.7:ENST00000231137.6:exon1:c.C1161A:p.D387E 5q31.3 C3L-00812 8.239e-06 0 0 0 0 1.499e-05 0 0 rs781909345 0.19 T T B B . N N T N 0.027 T T T 0.072 0.233 0.337 0.116 T T T T T T -0.030 1.157 0.799 N N -1.318 0.155 -1.398 0.152 0.754 0.554 0.574 0.576 0.568 . 4.610 -6.130 -6.521 -0.239 -0.180 0.000 0.331 0.911 653 Cadherin-like . . . PCDHB7 133 0 119 30 0.201342281879195 TRUE TRUE +ENSG00000113763.12 . BCM GRCh38.p13 chr5 176862836 176862836 + G G C Missense_Mutation SNP ENST00000329542.9 exon2 c.G283C p.G95R exonic ENSG00000113763.12 . nonsynonymous SNV ENSG00000113763.12:ENST00000329542.9:exon2:c.G283C:p.G95R 5q35.2 C3L-00812 . . . . . . . . . 0.20 T T B B N N N T N 0.095 T T T 0.024 0.204 0.110 0.708 T T T T T T 0.241 3.597 0.905 N N -1.106 0.301 -1.168 0.311 1.000 0.560 0.590 0.269 0.563 . 3.920 -1.470 -0.824 0.228 -0.113 0.000 0.091 0.134 543 . . . . UNC5A 171 0 165 28 0.145077720207254 TRUE NA +ENSG00000278588.2 . BCM GRCh38.p13 chr6 26273235 26273235 + G G C Missense_Mutation SNP ENST00000377733.4 exon1 c.G260C p.R87P exonic ENSG00000278588.2 . nonsynonymous SNV ENSG00000278588.2:ENST00000377733.4:exon1:c.G260C:p.R87P 6p22.2 C3L-00812 . . . . . . . . . 12.15 D D . . U N . T D 0.934 D D D 0.647 0.509 0.940 0.476 D . D D D . 4.579 32 0.997 D D 0.631 6.250 0.579 5.975 1.000 0.267 0.484 0.520 0.250 . 4.500 4.500 6.520 1.006 0.596 1.000 0.999 0.977 735 . . . . H2BC10 188 0 194 67 0.256704980842912 NA TRUE +ENSG00000112701.18 . BCM GRCh38.p13 chr6 75666746 75666746 + C C A Missense_Mutation SNP ENST00000447266.7 exon10 c.C1029A p.D343E exonic ENSG00000112701.18 . nonsynonymous SNV ENSG00000112701.18:ENST00000447266.7:exon10:c.C1029A:p.D343E 6q14.1 C3L-00812 . . . . . . . . . 2.20 T T P B D N L T N 0.160 T T T 0.139 0.064 0.117 0.138 T T T T T T 1.437 15.330 0.863 D N -0.525 1.127 -0.591 1.059 0.000 0.707 0.725 0.725 0.714 . 5.320 1.430 0.481 1.026 0.599 0.986 0.949 0.562 726 . . . . SENP6 176 0 117 36 0.235294117647059 TRUE TRUE +ENSG00000057657.17 . BCM GRCh38.p13 chr6 106095647 106095647 + A A - Frame_Shift_Del DEL ENST00000369096.9 exon3 c.324delA p.K109Rfs*8 exonic ENSG00000057657.17 . frameshift deletion ENSG00000057657.17:ENST00000369096.9:exon3:c.324delA:p.K109Rfs*8 6q21 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM1 163 0 89 33 0.270491803278689 TRUE TRUE +ENSG00000178409.13 . BCM GRCh38.p13 chr6 107069509 107069509 + C C G Missense_Mutation SNP ENST00000429433.3 exon5 c.G1682C p.R561P exonic ENSG00000178409.13 . nonsynonymous SNV ENSG00000178409.13:ENST00000429433.3:exon5:c.G1682C:p.R561P 6q21 C3L-00812 . . . . . . . . . 10.19 D D P P D D N . N 0.512 T T T 0.195 0.444 0.386 1.523 T T D D D D 3.810 25.900 0.991 D D 0.438 4.588 0.487 5.041 0.987 0.706 0.654 0.710 0.492 . 4.910 4.910 4.636 1.022 0.596 1.000 1.000 0.974 632 BEN_domain . . . BEND3 245 0 172 33 0.160975609756098 TRUE TRUE +ENSG00000004846.16 . BCM GRCh38.p13 chr7 20755596 20755596 + A A C Missense_Mutation SNP ENST00000404938.6 exon28 c.A3746C p.K1249T exonic ENSG00000004846.16 . nonsynonymous SNV ENSG00000004846.16:ENST00000404938.6:exon28:c.A3746C:p.K1249T 7p21.1 C3L-00812 . . . . . . . . . 2.18 T T . . N D L T N 0.230 T T T 0.051 0.480 0.403 0.007 T T T T T T 1.351 14.740 0.978 D N -0.426 1.326 -0.297 1.570 0.000 0.487 0.574 0.574 0.564 . 5.160 2.750 0.009 1.312 0.750 0.022 0.997 0.721 906 ABC_transporter-like;AAA+_ATPase_domain . . . ABCB5 164 0 128 43 0.251461988304094 TRUE TRUE +ENSG00000179869.15 . BCM GRCh38.p13 chr7 48507985 48507985 + G G C Missense_Mutation SNP ENST00000435803.6 exon50 c.G13460C p.R4487T exonic ENSG00000179869.15 . nonsynonymous SNV ENSG00000179869.15:ENST00000435803.6:exon50:c.G13460C:p.R4487T 7p12.3 C3L-00812 . . . . . . . . . 12.16 D D . . D N . D D 0.832 D D D 0.619 0.592 0.853 0.236 T . D D D T 3.921 26.500 0.970 D N 0.377 4.202 0.269 3.539 0.023 0.487 0.590 0.574 0.564 . 5.500 4.620 6.393 0.230 -0.106 0.999 0.246 0.894 813 . . . . ABCA13 240 0 148 28 0.159090909090909 TRUE TRUE +ENSG00000182111.9 . BCM GRCh38.p13 chr7 57469282 57469282 + G G A Missense_Mutation SNP ENST00000420713.2 exon4 c.G821A p.R274H exonic ENSG00000182111.9 . nonsynonymous SNV ENSG00000182111.9:ENST00000420713.2:exon4:c.G821A:p.R274H 7p11.2 C3L-00812 1.776e-05 0 0 0.0001 0 1.616e-05 0 0 rs782303620 2.17 D D . . . N N T N 0.142 T T T 0.241 . 0.158 0.019 T T T T T T 2.116 20.200 0.903 N N -0.544 1.092 -0.672 0.940 0.034 0.487 0.574 0.574 0.564 . 0.185 0.185 6.855 0.563 0.373 1.000 0.007 0.007 964 Zinc_finger_C2H2-type . . . ZNF716 194 0 155 10 0.0606060606060606 TRUE NA +ENSG00000183638.6 . BCM GRCh38.p13 chr8 10611720 10611720 + C C T Missense_Mutation SNP ENST00000382483.4 exon4 c.G2378A p.G793E exonic ENSG00000183638.6 . nonsynonymous SNV ENSG00000183638.6:ENST00000382483.4:exon4:c.G2378A:p.G793E 8p23.1 C3L-00812 . . . . . . . . . 0.18 T T . . N N N T N 0.083 T T T 0.012 0.133 0.067 . T T T T T T -0.480 0.131 0.487 N N -1.702 0.036 -1.649 0.062 0.000 0.487 0.574 0.578 0.563 . 5.110 -0.887 -0.437 -3.797 -1.056 0.000 0.000 0.005 792 . . . . RP1L1 117 0 220 14 0.0598290598290598 TRUE TRUE +ENSG00000147485.13 . BCM GRCh38.p13 chr8 51408607 51408607 + C C T Missense_Mutation SNP ENST00000356297.5 exon17 c.G3017A p.G1006D exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon17:c.G3017A:p.G1006D 8q11.22 C3L-00812 . . . . . . . . . 16.20 D D D D D D H T D 0.736 D D T 0.466 0.673 0.586 0.627 T T D D D D 2.491 22.400 0.997 D D 0.516 5.162 0.261 3.497 1.000 0.581 0.574 0.576 0.564 . 4.110 4.110 4.092 -0.008 0.524 0.987 0.002 0.013 895 Peroxidasin,_peroxidase_domain . . . PXDNL 136 0 85 27 0.241071428571429 TRUE TRUE +ENSG00000104218.14 . BCM GRCh38.p13 chr8 67115966 67115966 + T T G Missense_Mutation SNP ENST00000262210.9 exon11 c.T1325G p.I442R exonic ENSG00000104218.14 . nonsynonymous SNV ENSG00000104218.14:ENST00000262210.9:exon11:c.T1325G:p.I442R 8q13.2 C3L-00812 . . . . . . . . . 3.18 D D P P N N . T N 0.485 T T T 0.104 . 0.286 0.474 T . T T D T 1.868 18.240 0.984 N N -0.325 1.553 -0.396 1.379 0.071 0.732 0.744 0.710 0.728 . 5.520 1.940 0.791 0.970 0.665 0.001 0.996 0.981 711 . . . . CSPP1 243 0 172 10 0.0549450549450549 TRUE TRUE +ENSG00000165105.10 . BCM GRCh38.p13 chr9 83062615 83062615 + G G C Missense_Mutation SNP ENST00000376447.4 exon1 c.C253G p.P85A exonic ENSG00000165105.10 . nonsynonymous SNV ENSG00000165105.10:ENST00000376447.4:exon1:c.C253G:p.P85A 9q21.32 C3L-00812 . . . . . . . . . 1.20 T T B B N N N T N 0.105 T T D 0.013 0.122 0.088 0.154 T T T T T T 0.521 6.721 0.591 N N -1.240 0.200 -1.309 0.203 1.000 0.487 0.574 0.607 0.555 . 2.490 -0.795 0.235 0.054 0.504 0.000 0.000 0.001 953 . . . . RASEF 221 0 186 11 0.0558375634517767 TRUE TRUE +ENSG00000095383.20 . BCM GRCh38.p13 chr9 98229071 98229071 + G G T Missense_Mutation SNP ENST00000465784.7 exon5 c.C859A p.Q287K exonic ENSG00000095383.20 . nonsynonymous SNV ENSG00000095383.20:ENST00000465784.7:exon5:c.C859A:p.Q287K 9q22.33 C3L-00812 . . . . . . . . . 3.20 T T B B N D M T N 0.326 T T T 0.050 0.361 0.319 0.386 T T T T T T 1.758 17.430 0.874 D N -0.200 1.877 -0.014 2.312 1.000 0.707 0.588 0.659 0.714 . 4.960 4.960 2.189 1.176 0.676 0.997 0.961 0.991 564 . . . . TBC1D2 180 0 106 29 0.214814814814815 TRUE TRUE +ENSG00000044574.8 . BCM GRCh38.p13 chr9 125239110 125239110 + T T C Missense_Mutation SNP ENST00000324460.7 exon5 c.A827G p.K276R exonic ENSG00000044574.8 . nonsynonymous SNV ENSG00000044574.8:ENST00000324460.7:exon5:c.A827G:p.K276R 9q33.3 C3L-00812 . . . . . . . . . 8.19 T T B B D D . T N 0.447 T T D 0.196 0.458 0.436 1.172 D T T T D D 3.133 23.700 0.997 D D 0.084 2.825 0.165 3.018 1.000 0.722 0.672 0.699 0.639 . 4.160 4.160 7.991 1.135 0.660 1.000 0.999 0.976 830 . . . . HSPA5 165 0 111 38 0.25503355704698 NA TRUE +ENSG00000148300.12 . BCM GRCh38.p13 chr9 133407820 133407820 + G G A Missense_Mutation SNP ENST00000371942.8 exon7 c.C1136T p.A379V exonic ENSG00000148300.12 . nonsynonymous SNV ENSG00000148300.12:ENST00000371942.8:exon7:c.C1136T:p.A379V 9q34.2 C3L-00812 . . . . . . . . . 8.20 D D D P N N L T D 0.255 T T D 0.186 0.665 0.554 0.462 T T T T D D 3.597 25.000 0.987 D N 0.368 4.153 0.326 3.870 1.000 0.732 0.725 0.744 0.714 . 5.010 4.090 4.752 1.158 0.656 1.000 0.583 0.592 934 RNA_exonuclease_4,_DEDDh_3'-5'_exonuclease_domain;Exonuclease,_RNase_T/DNA_polymerase_III . . ID=COSV64241307;OCCURENCE=1(stomach) REXO4 141 0 96 27 0.219512195121951 TRUE NA +ENSG00000107611.16 . BCM GRCh38.p13 chr10 17071481 17071481 + T T C Missense_Mutation SNP ENST00000377833.10 exon19 c.A2570G p.N857S exonic ENSG00000107611.16 . nonsynonymous SNV ENSG00000107611.16:ENST00000377833.10:exon19:c.A2570G:p.N857S 10p13 C3L-00812 . . . . . . . . . 4.20 T D P B D N L T N 0.309 T T T 0.081 0.572 0.539 0.370 T T T T D T 2.025 19.450 0.996 D N 0.102 2.895 0.171 3.045 1.000 0.560 0.574 0.574 0.550 . 5.400 5.400 2.500 1.138 0.665 1.000 0.962 0.783 864 CUB_domain . . . CUBN 271 0 186 46 0.198275862068966 TRUE TRUE +ENSG00000204740.11 . BCM GRCh38.p13 chr10 19204969 19204969 + C C G Missense_Mutation SNP ENST00000454679.7 exon17 c.C2282G p.T761R exonic ENSG00000204740.11 . nonsynonymous SNV ENSG00000204740.11:ENST00000454679.7:exon17:c.C2282G:p.T761R 10p12.31 C3L-00812 . . . . . . . . . 8.15 D D . . D D . T D 0.750 T T T 0.199 . 0.227 . . . T T D T 2.634 22.700 0.970 D D -0.015 2.459 -0.055 2.181 0.884 0.487 0.574 0.574 0.564 . 5.440 4.540 5.685 1.022 0.549 1.000 0.002 0.047 935 MAM_domain . . . MALRD1 157 0 83 25 0.231481481481481 TRUE TRUE +ENSG00000151150.22 . BCM GRCh38.p13 chr10 60055925 60055925 + G G T Nonsense_Mutation SNP ENST00000280772.7 exon42 c.C12798A p.Y4266X exonic ENSG00000151150.22 . stopgain ENSG00000151150.22:ENST00000280772.7:exon42:c.C12798A:p.Y4266X 10q21.2 C3L-00812 . . . . . . . . . 4.6 . . . . N A . . . 0.812 . . . . . . . . . D D . . 8.859 46 0.993 D N 0.543 5.391 0.419 4.497 0.001 0.706 0.547 0.710 0.655 . 5.790 3.940 3.169 0.227 -0.135 1.000 0.997 0.994 679 . . . . ANK3 190 0 139 8 0.054421768707483 TRUE NA +ENSG00000171988.19 . BCM GRCh38.p13 chr10 63207436 63207436 + C C A Missense_Mutation SNP ENST00000399262.7 exon10 c.G4233T p.W1411C exonic ENSG00000171988.19 . nonsynonymous SNV ENSG00000171988.19:ENST00000399262.7:exon10:c.G4233T:p.W1411C 10q21.3 C3L-00812 . . . . . . . . . 5.20 D T P B N D L T N 0.299 T T T 0.099 0.144 0.143 0.243 T T T T D D 2.220 21.000 0.984 D N 0.330 3.937 0.401 4.365 1.000 0.731 0.750 0.699 0.617 . 5.720 5.720 1.923 1.026 0.549 0.089 0.985 0.993 609 . . . . JMJD1C 171 0 122 24 0.164383561643836 TRUE TRUE +ENSG00000187122.17 . BCM GRCh38.p13 chr10 97066016 97066016 + A A T Missense_Mutation SNP ENST00000266058.9 exon5 c.T484A p.L162I exonic ENSG00000187122.17 . nonsynonymous SNV ENSG00000187122.17:ENST00000266058.9:exon5:c.T484A:p.L162I 10q24.1 C3L-00812 . . . . . . . . . 16.20 D D D D D D M T N 0.822 D D D 0.583 0.623 0.782 1.365 D T D D D D 2.392 22.100 0.995 D N -0.033 2.395 -0.209 1.764 0.789 0.497 0.590 0.547 0.542 . 4.810 -0.230 0.590 -0.383 -0.274 0.996 0.718 0.205 697 . . . . SLIT1 141 0 93 19 0.169642857142857 TRUE TRUE +ENSG00000117983.17 . BCM GRCh38.p13 chr11 1247246 1247246 + G G T Missense_Mutation SNP ENST00000529681.5 exon31 c.G10366T p.G3456W exonic ENSG00000117983.17 . nonsynonymous SNV ENSG00000117983.17:ENST00000529681.5:exon31:c.G10366T:p.G3456W 11p15.5 C3L-00812 8.485e-06 0 0 0.0001 0 0 0 0 rs764206254 1.16 D . . . . N L T N 0.210 T T T 0.035 . 0.043 . T T T T T T 2.301 21.600 0.740 N N -0.439 1.301 -0.745 0.835 0.000 0.554 0.588 0.547 0.613 . 2.070 -0.070 0.214 0.735 0.460 0.000 0.001 0.001 958 . . . . MUC5B 708 3 569 94 0.141779788838612 NA TRUE +ENSG00000236287.8 . BCM GRCh38.p13 chr11 10854066 10854066 + G G A Missense_Mutation SNP ENST00000413761.7 exon3 c.C880T p.R294C exonic ENSG00000236287.8 . nonsynonymous SNV ENSG00000236287.8:ENST00000413761.7:exon3:c.C880T:p.R294C 11p15.4 C3L-00812 . . . . . . . . . 9.19 D D D D . D M T D 0.710 T T T 0.193 0.723 0.375 . T T T T D T 3.730 25.500 0.998 D N 0.215 3.370 0.097 2.721 1.000 0.707 0.725 0.702 0.714 . 4.000 1.040 1.257 1.106 0.596 1.000 0.998 0.999 587 . . . . ZBED5 113 0 82 13 0.136842105263158 TRUE TRUE +ENSG00000050405.13 . BCM GRCh38.p13 chr12 50205993 50205993 + T T - Nonsense_Mutation SNP ENST00000341247.8 exon5 c.706delA p.I236* exonic ENSG00000050405.13 . stopgain ENSG00000050405.13:ENST00000341247.8:exon5:c.706delA:p.I236* 12q13.12 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIMA1 161 0 76 18 0.191489361702128 TRUE TRUE +ENSG00000123427.17 . BCM GRCh38.p13 chr12 57780299 57780299 + A A G Missense_Mutation SNP ENST00000300209.13 exon3 c.A334G p.I112V exonic ENSG00000123427.17 . nonsynonymous SNV ENSG00000123427.17:ENST00000300209.13:exon3:c.A334G:p.I112V 12q14.1 C3L-00812 . . . . . . . . . 7.19 D D P P D D . T N 0.229 T T T 0.137 0.670 0.328 1.490 T T T T D T 3.281 24.100 0.986 D D 0.292 3.738 0.291 3.662 1.000 0.706 0.710 0.659 0.714 . 5.210 5.210 3.578 1.312 0.756 1.000 1.000 0.999 189 . . . . EEF1AKMT3 292 0 218 45 0.171102661596958 TRUE TRUE +ENSG00000151148.14 . BCM GRCh38.p13 chr12 109524442 109524442 + A A G Missense_Mutation SNP ENST00000342494.8 exon23 c.A2507G p.Y836C exonic ENSG00000151148.14 . nonsynonymous SNV ENSG00000151148.14:ENST00000342494.8:exon23:c.A2507G:p.Y836C 12q24.11 C3L-00812 3.298e-05 0 0 0 0 5.999e-05 0 0 rs763834013 16.20 D D D D D D M T D 0.959 T T D 0.607 0.648 0.858 1.006 D T D D D D 3.842 26.000 0.996 D D 0.633 6.272 0.551 5.662 1.000 0.707 0.654 0.644 0.714 . 5.110 5.110 8.661 1.308 0.691 1.000 0.955 0.222 714 HECT_domain . . ID=COSV61073234;OCCURENCE=1(breast) UBE3B 117 0 78 13 0.142857142857143 TRUE TRUE +ENSG00000197991.11 . BCM GRCh38.p13 chr13 61412091 61412091 + G G A Nonsense_Mutation SNP ENST00000409204.4 exon2 c.C2008T p.R670X exonic ENSG00000197991.11;ENSG00000280165.1 . stopgain ENSG00000280165.1:ENST00000409204.4:exon2:c.C2008T:p.R670X,ENSG00000197991.11:ENST00000409186.1:exon5:c.C2008T:p.R670X 13q21.2 C3L-00812 . . . . . . . . . 3.6 . . . . N D . . . 0.219 . . . . . . . . . D D . . 5.135 33 0.997 N N 0.366 4.140 0.085 2.676 0.000 0.516 0.590 0.577 0.530 . 5.940 3.090 1.449 -0.226 -0.153 0.042 0.003 0.170 960 Cadherin-like . . ID=COSV69426707;OCCURENCE=1(large_intestine),1(stomach),1(soft_tissue) AL592490.1 126 0 125 8 0.0601503759398496 TRUE TRUE +ENSG00000041515.16 . BCM GRCh38.p13 chr13 108727525 108727525 + C C T Missense_Mutation SNP ENST00000356711.7 exon4 c.C383T p.T128M exonic ENSG00000041515.16 . nonsynonymous SNV ENSG00000041515.16:ENST00000356711.7:exon4:c.C383T:p.T128M 13q33.3 C3L-00812 8.241e-06 0 0 0.0001 0 0 0 0 rs201650171 15.19 D D D D U D M T D 0.880 D D D 0.556 . 0.813 0.746 T T D D D . 3.646 25.200 0.999 D D 0.798 8.746 0.682 7.436 1.000 0.487 0.574 0.547 0.564 . 4.680 4.680 6.796 1.026 0.599 1.000 0.986 0.875 970 Ankyrin_repeat-containing_domain . . ID=COSV51782521;OCCURENCE=1(oesophagus),1(kidney),1(endometrium) MYO16 187 0 119 33 0.217105263157895 TRUE TRUE +ENSG00000166783.22 . BCM GRCh38.p13 chr16 15617405 15617412 + AAGACCCC AAGACCCC - Frame_Shift_Del DEL ENST00000396368.8 exon14 c.2844_2851del p.L948Ffs*17 exonic ENSG00000166783.22 . frameshift deletion ENSG00000166783.22:ENST00000396368.8:exon14:c.2844_2851del:p.L948Ffs*17 16p13.11 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARF1 298 0 202 46 0.185483870967742 TRUE TRUE +ENSG00000183747.12 . BCM GRCh38.p13 chr16 20460250 20460250 + T T C Missense_Mutation SNP ENST00000573854.6 exon2 c.T136C p.F46L exonic ENSG00000183747.12 . nonsynonymous SNV ENSG00000183747.12:ENST00000573854.6:exon2:c.T136C:p.F46L 16p12.3 C3L-00812 . . . . . . . . . 12.20 D D D D D D M T D 0.550 T T T 0.243 0.400 0.674 1.066 T T T T D D 3.811 25.900 0.998 D D 0.482 4.896 0.381 4.224 0.069 0.487 0.574 0.574 0.564 . 3.810 3.810 4.529 1.048 0.607 1.000 0.947 0.970 783 . . . . ACSM2A 204 0 137 37 0.21264367816092 NA TRUE +ENSG00000141294.10 . BCM GRCh38.p13 chr17 47836767 47836767 + G G C Missense_Mutation SNP ENST00000269025.9 exon8 c.G613C p.E205Q exonic ENSG00000141294.10 . nonsynonymous SNV ENSG00000141294.10:ENST00000269025.9:exon8:c.G613C:p.E205Q 17q21.32 C3L-00812 . . . . . . . . . 3.20 T D B B N N M T N 0.134 T T T 0.094 0.277 0.838 0.310 T T T T T T 1.749 17.370 0.984 D N -0.239 1.769 -0.163 1.877 0.995 0.554 0.588 0.670 0.714 . 5.510 2.380 0.664 1.176 0.676 0.114 0.811 0.448 320 . . . . LRRC46 231 0 186 32 0.146788990825688 TRUE TRUE +ENSG00000005381.8 . BCM GRCh38.p13 chr17 58279037 58279037 + C C G Missense_Mutation SNP ENST00000225275.4 exon6 c.G856C p.V286L exonic ENSG00000005381.8 . nonsynonymous SNV ENSG00000005381.8:ENST00000225275.4:exon6:c.G856C:p.V286L 17q22 C3L-00812 . . . . . . . . . 0.20 T T B B N N N T N 0.128 T T T 0.106 0.390 0.495 0.343 T T T T T T 1.229 13.860 0.928 N N -1.113 0.295 -0.942 0.564 1.000 0.598 0.563 0.596 0.527 . 4.720 -0.047 0.330 -0.464 -0.273 0.002 0.993 0.993 313 . . . . MPO 295 0 222 47 0.174721189591078 TRUE TRUE +ENSG00000121068.14 . BCM GRCh38.p13 chr17 61408115 61408115 + C C T Missense_Mutation SNP ENST00000240328.4 exon7 c.C1748T p.A583V exonic ENSG00000121068.14 . nonsynonymous SNV ENSG00000121068.14:ENST00000240328.4:exon7:c.C1748T:p.A583V 17q23.2 C3L-00812 . . . . . . . . . 16.20 D T D P D D M D N 0.564 D D D 0.484 0.404 0.738 . T D D D D D 3.396 24.400 0.999 D D 0.631 6.256 0.634 6.671 1.000 0.598 0.563 0.596 0.639 . 5.010 5.010 7.462 1.026 0.599 1.000 0.913 0.988 237 . . . . TBX2 109 0 87 6 0.0645161290322581 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8972845 8972845 + G G T Missense_Mutation SNP ENST00000397910.8 exon1 c.C8294A p.S2765Y exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon1:c.C8294A:p.S2765Y 19p13.2 C3L-00812 . . . . . . . . . 2.16 D D . . . N N T N 0.105 T T T 0.062 0.160 0.222 . T . T T T T 1.240 13.940 0.311 N N -0.607 0.975 -0.863 0.671 0.000 0.487 0.574 0.574 0.564 . 0.235 0.235 0.803 0.427 0.373 0.093 0.143 0.076 900 . . . . MUC16 209 2 149 45 0.231958762886598 TRUE TRUE +ENSG00000105613.10 . BCM GRCh38.p13 chr19 12871038 12871038 + T T - Frame_Shift_Del DEL ENST00000251472.9 exon24 c.3129delT p.S1043Rfs*5 exonic ENSG00000105613.10 . frameshift deletion ENSG00000105613.10:ENST00000251472.9:exon24:c.3129delT:p.S1043Rfs*5 19p13.13 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAST1 117 0 69 30 0.303030303030303 TRUE TRUE +ENSG00000124198.9 . BCM GRCh38.p13 chr20 48989566 48989566 + C C T Missense_Mutation SNP ENST00000371917.5 exon20 c.C2696T p.T899M exonic ENSG00000124198.9 . nonsynonymous SNV ENSG00000124198.9:ENST00000371917.5:exon20:c.C2696T:p.T899M 20q13.13 C3L-00812 8.238e-06 0 8.639e-05 0 0 0 0 0 rs745621774 10.20 T T D D D D N T D 0.652 T T T 0.315 0.473 0.456 0.679 T D T T D D 3.618 25.100 0.998 D D 0.568 5.613 0.593 6.141 1.000 0.719 0.654 0.723 0.714 . 4.990 4.990 7.905 1.026 0.599 1.000 0.971 0.938 937 . . . ID=COSV64213557;OCCURENCE=1(endometrium) ARFGEF2 468 0 389 96 0.197938144329897 TRUE TRUE +ENSG00000130702.15 . BCM GRCh38.p13 chr20 62330497 62330497 + C C T Missense_Mutation SNP ENST00000252999.7 exon31 c.G3970A p.V1324M exonic ENSG00000130702.15 . nonsynonymous SNV ENSG00000130702.15:ENST00000252999.7:exon31:c.G3970A:p.V1324M 20q13.33 C3L-00812 5.116e-05 0.0003 0 0 0 0 0 0 rs141276418 0.20 T T P B N N L T N 0.337 T T T 0.117 . 0.504 . T T T T T T 0.893 10.360 0.995 N N -0.518 1.141 -0.698 0.902 0.948 0.632 0.547 0.698 0.636 . 4.680 -2.700 -0.233 0.086 0.596 0.000 0.718 0.604 779 . . . ID=COSV53362972;OCCURENCE=2(thyroid) LAMA5 36 0 34 14 0.291666666666667 TRUE TRUE +ENSG00000100242.15 . BCM GRCh38.p13 chr22 38749825 38749836 + GCCAGCCCACCA GCCAGCCCACCA - In_Frame_Del DEL ENST00000405510.5 exon7 c.544_555del p.W182_G185del exonic ENSG00000100242.15 . nonframeshift deletion ENSG00000100242.15:ENST00000405510.5:exon7:c.544_555del:p.W182_G185del 22q13.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUN2 194 0 111 25 0.183823529411765 TRUE TRUE +ENSG00000099715.14 . BCM GRCh38.p13 chrY 5056899 5056899 + G G A Missense_Mutation SNP ENST00000400457.3 exon1 c.G76A p.V26I exonic ENSG00000099715.14 . nonsynonymous SNV ENSG00000099715.14:ENST00000400457.3:exon1:c.G76A:p.V26I Yp11.2 C3L-00812 . . . . . . . . . 2.14 T D B B . N N T N 0.120 . . D . . 0.388 0.227 . T T T . T -0.411 0.182 0.917 N . . . . . 0.000 . . . . . 2.860 2.860 -0.306 0.784 0.318 0.000 0.004 0.002 . . . . . PCDH11Y 221 1 169 15 0.0815217391304348 NA TRUE +ENSG00000132300.19 . BCM GRCh38.p13 chr2 86123763 86123763 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000132300.19 ENST00000254630.12:exon9:c.716+1G>A . . 2p11.2 C3L-00812 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.059 33 0.984 D . 0.879 10.522 0.655 6.986 1.000 0.295 0.304 0.232 0.277 0.958 4.650 4.650 4.127 1.176 0.618 1.000 0.229 0.072 562 . . . . PTCD3 46 0 36 6 0.142857142857143 TRUE TRUE +ENSG00000035403.18 . BCM GRCh38.p13 chr10 74089195 74089195 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000035403.18 ENST00000211998.10:exon9:c.1023-1G>T . . 10q22.2 C3L-00812 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.921 35 0.995 D . 1.234 27.171 1.085 25.486 1.000 0.257 0.187 0.320 0.277 0.988 5.270 5.270 9.516 1.176 0.676 1.000 0.996 0.990 294 . . . . VCL 391 0 271 55 0.168711656441718 TRUE TRUE +ENSG00000116254.18 . BCM GRCh38.p13 chr1 6149321 6149321 + C C A Silent SNP ENST00000262450.8 exon8 c.G1086T p.P362P exonic ENSG00000116254.18 . synonymous SNV ENSG00000116254.18:ENST00000262450.8:exon8:c.G1086T:p.P362P 1p36.31 C3L-00812 8.34e-06 0 8.772e-05 0 0 0 0 0 rs757492771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99312919;OCCURENCE=1(skin) CHD5 89 1 73 4 0.051948051948052 TRUE NA +ENSG00000185104.20 . BCM GRCh38.p13 chr1 50788136 50788136 + A A C Silent SNP ENST00000396153.7 exon4 c.T231G p.T77T exonic ENSG00000185104.20 . synonymous SNV ENSG00000185104.20:ENST00000396153.7:exon4:c.T231G:p.T77T 1p32.3 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAF1 285 1 183 58 0.240663900414938 TRUE TRUE +ENSG00000116747.12 . BCM GRCh38.p13 chr1 193075932 193075932 + T T G Silent SNP ENST00000367446.7 exon3 c.T693G p.A231A exonic ENSG00000116747.12 . synonymous SNV ENSG00000116747.12:ENST00000367446.7:exon3:c.T693G:p.A231A 1q31.2 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RO60 188 1 106 30 0.220588235294118 TRUE TRUE +ENSG00000257315.2 . BCM GRCh38.p13 chr1 203798434 203798434 + A A G Silent SNP ENST00000550078.2 exon1 c.A912G p.S304S exonic ENSG00000257315.2 . synonymous SNV ENSG00000257315.2:ENST00000550078.2:exon1:c.A912G:p.S304S 1q32.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBED6 121 0 91 19 0.172727272727273 TRUE TRUE +ENSG00000144218.19 . BCM GRCh38.p13 chr2 100006746 100006746 + C C T Silent SNP ENST00000409236.6 exon5 c.G759A p.S253S exonic ENSG00000144218.19 . synonymous SNV ENSG00000144218.19:ENST00000409236.6:exon5:c.G759A:p.S253S 2q11.2 C3L-00812 0.0001 0.0007 8.663e-05 0 0 9.017e-05 0 6.058e-05 rs371774868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57856304;OCCURENCE=1(large_intestine) AFF3 200 0 156 21 0.11864406779661 TRUE TRUE +ENSG00000188282.12 . BCM GRCh38.p13 chr2 218075485 218075485 + G G A Silent SNP ENST00000344321.8 exon7 c.G993A p.G331G exonic ENSG00000188282.12 . synonymous SNV ENSG00000188282.12:ENST00000344321.8:exon7:c.G993A:p.G331G 2q35 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RUFY4 32 0 23 9 0.28125 TRUE TRUE +ENSG00000112701.18 . BCM GRCh38.p13 chr6 75670567 75670567 + T T A Silent SNP ENST00000447266.7 exon11 c.T1239A p.I413I exonic ENSG00000112701.18 . synonymous SNV ENSG00000112701.18:ENST00000447266.7:exon11:c.T1239A:p.I413I 6q14.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SENP6 93 0 56 10 0.151515151515152 TRUE TRUE +ENSG00000196411.10 . BCM GRCh38.p13 chr7 100819720 100819720 + A A G Silent SNP ENST00000358173.8 exon6 c.T1134C p.T378T exonic ENSG00000196411.10 . synonymous SNV ENSG00000196411.10:ENST00000358173.8:exon6:c.T1134C:p.T378T 7q22.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPHB4 173 0 136 34 0.2 TRUE TRUE +ENSG00000148300.12 . BCM GRCh38.p13 chr9 133407837 133407837 + C C A Silent SNP ENST00000371942.8 exon7 c.G1119T p.G373G exonic ENSG00000148300.12 . synonymous SNV ENSG00000148300.12:ENST00000371942.8:exon7:c.G1119T:p.G373G 9q34.2 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REXO4 164 0 109 32 0.226950354609929 TRUE TRUE +ENSG00000121898.13 . BCM GRCh38.p13 chr10 123746956 123746956 + G G A Silent SNP ENST00000241305.4 exon14 c.C2079T p.A693A exonic ENSG00000121898.13 . synonymous SNV ENSG00000121898.13:ENST00000241305.4:exon14:c.C2079T:p.A693A 10q26.13 C3L-00812 3.295e-05 9.61e-05 0 0 0 4.495e-05 0 0 rs200982625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPXM2 282 0 161 62 0.278026905829596 TRUE NA +ENSG00000110077.14 . BCM GRCh38.p13 chr11 60175465 60175465 + A A T Silent SNP ENST00000530839.5 exon6 c.T486A p.V162V exonic ENSG00000110077.14 . synonymous SNV ENSG00000110077.14:ENST00000530839.5:exon6:c.T486A:p.V162V 11q12.2 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MS4A6A 203 0 148 45 0.233160621761658 TRUE TRUE +ENSG00000173653.8 . BCM GRCh38.p13 chr11 66845561 66845561 + A A C Silent SNP ENST00000309657.8 exon7 c.A753C p.T251T exonic ENSG00000173653.8 . synonymous SNV ENSG00000173653.8:ENST00000309657.8:exon7:c.A753C:p.T251T 11q13.2 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58992452;OCCURENCE=1(lung) RCE1 153 0 114 9 0.0731707317073171 TRUE TRUE +ENSG00000048649.13 . BCM GRCh38.p13 chr11 77667259 77667259 + C C T Silent SNP ENST00000308488.10 exon16 c.G3984A p.R1328R exonic ENSG00000048649.13 . synonymous SNV ENSG00000048649.13:ENST00000308488.10:exon16:c.G3984A:p.R1328R 11q14.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57836438;OCCURENCE=1(kidney) RSF1 135 0 90 30 0.25 TRUE TRUE +ENSG00000111701.7 . BCM GRCh38.p13 chr12 7652655 7652655 + A A G Silent SNP ENST00000229304.5 exon3 c.T225C p.D75D exonic ENSG00000111701.7 . synonymous SNV ENSG00000111701.7:ENST00000229304.5:exon3:c.T225C:p.D75D 12p13.31 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APOBEC1 114 0 95 31 0.246031746031746 TRUE TRUE +ENSG00000072657.9 . BCM GRCh38.p13 chr12 72286810 72286810 + T T C Silent SNP ENST00000261180.9 exon2 c.T909C p.N303N exonic ENSG00000072657.9 . synonymous SNV ENSG00000072657.9:ENST00000261180.9:exon2:c.T909C:p.N303N 12q21.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRHDE 291 0 216 67 0.236749116607774 TRUE TRUE +ENSG00000023608.5 . BCM GRCh38.p13 chr14 61762490 61762490 + C C T Silent SNP ENST00000216294.5 exon1 c.C30T p.D10D exonic ENSG00000023608.5 . synonymous SNV ENSG00000023608.5:ENST00000216294.5:exon1:c.C30T:p.D10D 14q23.2 C3L-00812 7.431e-05 0 0.0002 0 0 0.0001 0 0 rs758545214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNAPC1 288 0 224 62 0.216783216783217 TRUE NA +ENSG00000196557.13 . BCM GRCh38.p13 chr16 1201677 1201677 + C C T Silent SNP ENST00000348261.11 exon9 c.C1227T p.F409F exonic ENSG00000196557.13 . synonymous SNV ENSG00000196557.13:ENST00000348261.11:exon9:c.C1227T:p.F409F 16p13.3 C3L-00812 1.355e-05 0 0 0 0 2.334e-05 0 0 rs369331588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1H 58 0 56 22 0.282051282051282 TRUE NA +ENSG00000159140.21 . BCM GRCh38.p13 chr21 33554955 33554955 + A A G Silent SNP ENST00000356577.10 exon3 c.A5724G p.R1908R exonic ENSG00000159140.21 . synonymous SNV ENSG00000159140.21:ENST00000356577.10:exon3:c.A5724G:p.R1908R 21q22.11 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SON 152 0 97 30 0.236220472440945 TRUE TRUE +ENSG00000128203.7 . BCM GRCh38.p13 chr22 26443122 26443122 + G G T Silent SNP ENST00000215906.6 exon4 c.G1026T p.V342V exonic ENSG00000128203.7 . synonymous SNV ENSG00000128203.7:ENST00000215906.6:exon4:c.G1026T:p.V342V 22q12.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASPHD2 195 0 163 10 0.0578034682080925 TRUE TRUE +ENSG00000253782.2 . BCM GRCh38.p13 chr8 46930848 46930848 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000253782.2 . . . 8q11.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC091163.2 136 0 95 25 0.208333333333333 TRUE NA +ENSG00000258892.1 . BCM GRCh38.p13 chr14 60981047 60981047 + T T C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000258892.1 . . . 14q23.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL160236.2 112 0 61 26 0.298850574712644 TRUE NA +ENSG00000155330.10 . BCM GRCh38.p13 chr16 46831151 46831151 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000155330.10 ENST00000285697.9:c.-2G>A . . 16q11.2 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C16orf87 136 0 87 28 0.243478260869565 TRUE NA +ENSG00000181222.17 . BCM GRCh38.p13 chr17 7502540 7502540 + C C T IGR SNP NA NA NA NA intergenic ENSG00000181222.17;ENSG00000201489.1 dist=2782;dist=34556 . . 17p13.1 C3L-00812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POLR2A 104 0 78 17 0.178947368421053 TRUE TRUE +ENSG00000204178.11 . BCM GRCh38.p13 chr1 25458421 25458421 + C C A Nonsense_Mutation SNP ENST00000374343.5 exon6 c.C683A p.S228X exonic ENSG00000204178.11 . stopgain ENSG00000204178.11:ENST00000374343.5:exon6:c.C683A:p.S228X 1p36.11 C3L-00813 . . . . . . . . . 4.6 . . . . N D . . . 0.373 . . . . . . . . . D D . . 6.871 36 0.995 D N 0.855 9.944 0.742 8.620 1.000 0.732 0.744 0.725 0.728 . 6.040 6.040 4.711 1.025 0.599 0.882 0.956 0.972 866 . . . . MACO1 70 0 21 7 0.25 NA TRUE +ENSG00000116863.11 . BCM GRCh38.p13 chr1 36089016 36089016 + T T C Missense_Mutation SNP ENST00000373178.5 exon1 c.T112C p.S38P exonic ENSG00000116863.11 . nonsynonymous SNV ENSG00000116863.11:ENST00000373178.5:exon1:c.T112C:p.S38P 1p34.3 C3L-00813 . . . . . . . . rs1000887309 7.20 D D P B N N M T D 0.397 T T D 0.108 0.556 0.536 0.496 D T T T D T 2.169 20.600 0.988 N N -0.298 1.618 -0.348 1.469 1.000 0.733 0.522 0.601 0.373 . 4.650 2.720 0.303 -0.205 -0.153 0.001 0.801 0.981 178 . . . . ADPRS 63 0 58 6 0.09375 TRUE NA +ENSG00000162396.6 . BCM GRCh38.p13 chr1 54758105 54758105 + C C T Missense_Mutation SNP ENST00000371279.4 exon2 c.G1057A p.E353K exonic ENSG00000162396.6 . nonsynonymous SNV ENSG00000162396.6:ENST00000371279.4:exon2:c.G1057A:p.E353K 1p32.3 C3L-00813 . . . . . . . . . 19.20 D D D D D D H D D 0.980 D D D 0.838 0.646 0.837 0.797 T D D D D D 4.053 27.400 0.999 D D 1.077 16.578 0.980 17.648 1.000 0.707 0.637 0.725 0.636 . 5.660 5.660 7.753 1.025 0.599 1.000 1.000 1.000 928 Aminoacyl-tRNA_synthetase,_class_II;Aminoacyl-tRNA_synthetase,_class_II_(G/_P/_S/T);Prokaryote_proline-tRNA_ligase_core_domain . . . PARS2 96 0 124 12 0.0882352941176471 TRUE TRUE +ENSG00000116906.13 . BCM GRCh38.p13 chr1 231241435 231241435 + C C A Missense_Mutation SNP ENST00000366647.9 exon1 c.C57A p.S19R exonic ENSG00000116906.13 . nonsynonymous SNV ENSG00000116906.13:ENST00000366647.9:exon1:c.C57A:p.S19R 1q42.2 C3L-00813 . . . . . . . . . 3.19 D T B B . N L D N 0.271 T T D 0.208 0.265 0.754 0.257 T T T T T T 1.012 11.780 0.693 N N -1.007 0.396 -1.023 0.460 1.000 0.442 0.522 0.522 0.562 . 4.380 1.420 0.434 0.094 0.599 0.089 0.001 0.003 889 . . . . GNPAT 595 0 800 181 0.184505606523955 TRUE TRUE +ENSG00000116044.16 . BCM GRCh38.p13 chr2 177234076 177234076 + C C T Missense_Mutation SNP ENST00000397062.8 exon2 c.G241A p.G81S exonic ENSG00000116044.16 . nonsynonymous SNV ENSG00000116044.16:ENST00000397062.8:exon2:c.G241A:p.G81S 2q31.2 C3L-00813 . . . . . . . . . 14.20 D D D D D D M T D 0.941 T T D 0.511 0.417 0.657 0.647 T D T T D D 4.721 32 0.995 D D 0.923 11.669 0.888 13.231 1.000 0.732 0.725 0.744 0.735 . 5.780 5.780 7.568 1.026 0.599 1.000 0.999 0.998 663 . . . ID=COSV67960680;OCCURENCE=3(liver),4(lung),2(endometrium) NFE2L2 324 0 184 12 0.0612244897959184 TRUE TRUE +ENSG00000213901.11 . BCM GRCh38.p13 chr2 219162018 219162018 + C C T Missense_Mutation SNP ENST00000409878.8 exon12 c.G1724A p.G575E exonic ENSG00000213901.11 . nonsynonymous SNV ENSG00000213901.11:ENST00000409878.8:exon12:c.G1724A:p.G575E 2q35 C3L-00813 . . . . . . . . . 1.20 T T B B N N M T N 0.141 T T T 0.009 0.218 0.107 0.216 T T T T T T 0.843 9.828 0.992 N N -1.053 0.351 -1.031 0.451 1.000 0.554 0.547 0.602 0.728 . 3.750 0.700 0.126 0.103 -0.223 0.001 0.963 0.969 463 . . . . SLC23A3 97 0 147 36 0.19672131147541 TRUE TRUE +ENSG00000144460.12 . BCM GRCh38.p13 chr2 225582594 225582594 + C C G Missense_Mutation SNP ENST00000636099.1 exon5 c.C1177G p.L393V exonic ENSG00000144460.12 . nonsynonymous SNV ENSG00000144460.12:ENST00000636099.1:exon5:c.C1177G:p.L393V 2q36.3 C3L-00813 . . . . . . . . . 2.20 T T B B N D N T N 0.100 T T T 0.063 0.211 0.043 0.337 T T T T T T 1.034 12.050 0.207 D N -0.471 1.235 -0.358 1.450 0.003 0.487 0.574 0.574 0.564 . 5.170 4.090 2.057 0.867 0.587 1.000 0.082 0.059 691 Neuronal_tyrosine-phosphorylated_phosphoinositide-3-kinase_adapter,_N-terminal . . . NYAP2 54 0 89 21 0.190909090909091 TRUE TRUE +ENSG00000204104.12 . BCM GRCh38.p13 chr2 238344581 238344581 + - NA CT Frame_Shift_Ins INS ENST00000373327.5 exon9 c.1244_1245insCT p.T416Sfs*80 exonic ENSG00000204104.12 . frameshift insertion ENSG00000204104.12:ENST00000373327.5:exon9:c.1244_1245insCT:p.T416Sfs*80 2q37.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAF3IP1 NA NA NA NA NA NA NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149804 10149804 + C C T Nonsense_Mutation SNP ENST00000256474.3 exon3 c.C481T p.R161X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon3:c.C481T:p.R161X 3p25.3 C3L-00813 . . . . . . . . rs5030818 5.6 . . . . D D . . . 0.950 . . . . . . . . . D D . . 7.563 38 0.994 D N 0.419 4.461 0.245 3.410 0.998 0.722 0.702 0.702 0.735 . 4.860 2.940 1.157 0.128 -0.174 0.999 0.998 0.976 379 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56542817;OCCURENCE=1(large_intestine),2(central_nervous_system),1(paratesticular_tissues),1(stomach),2(soft_tissue),29(kidney),1(pancreas),1(skin),1(prostate) VHL 418 1 291 81 0.217741935483871 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52408512 52408512 + - NA A Nonsense_Mutation SNP ENST00000460680.6 exon4 c.216dupT p.D73* exonic ENSG00000163930.10 . stopgain ENSG00000163930.10:ENST00000460680.6:exon4:c.216dupT:p.D73* 3p21.1 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 NA NA NA NA NA NA NA +ENSG00000187098.15 . BCM GRCh38.p13 chr3 69937826 69937826 + A A G Missense_Mutation SNP ENST00000448226.7 exon3 c.A359G p.Q120R exonic ENSG00000187098.15 . nonsynonymous SNV ENSG00000187098.15:ENST00000448226.7:exon3:c.A359G:p.Q120R 3p13 C3L-00813 . . . . . . . . . 15.20 D D D P D D M T D 0.800 T T T 0.271 0.360 0.742 0.967 D D D D D D 3.670 25.300 0.992 D D 0.614 6.066 0.657 7.022 1.000 0.638 0.574 0.547 0.668 . 5.880 5.880 7.253 1.312 0.756 1.000 1.000 0.999 628 MiT/TFE_transcription_factors,_N-terminal . . . MITF 349 0 375 79 0.174008810572687 TRUE TRUE +ENSG00000144959.11 . BCM GRCh38.p13 chr3 172636080 172636084 + GCCTG GCCTG - Frame_Shift_Del DEL ENST00000475381.7 exon4 c.441_445del p.R148Sfs*8 exonic ENSG00000144959.11 . frameshift deletion ENSG00000144959.11:ENST00000475381.7:exon4:c.441_445del:p.R148Sfs*8 3q26.31 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCEH1 105 0 45 14 0.23728813559322 TRUE TRUE +ENSG00000133256.12 . BCM GRCh38.p13 chr4 635891 635911 + GTACCTGAATTTTGCCACGTT GTACCTGAATTTTGCCACGTT - In_Frame_Del DEL ENST00000496514.5 exon3 c.633_653del p.N214_L220del exonic ENSG00000133256.12 . nonframeshift deletion ENSG00000133256.12:ENST00000496514.5:exon3:c.633_653del:p.N214_L220del 4p16.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE6B 318 0 407 36 0.0812641083521445 TRUE NA +ENSG00000164120.14 . BCM GRCh38.p13 chr4 174522012 174522012 + T T C Missense_Mutation SNP ENST00000296522.11 exon2 c.A149G p.D50G exonic ENSG00000164120.14 . nonsynonymous SNV ENSG00000164120.14:ENST00000296522.11:exon2:c.A149G:p.D50G 4q34.1 C3L-00813 . . . . . . . . . 16.20 D D B B D D N D D 0.429 D D D 0.539 0.454 0.805 0.200 T D D D D D 3.714 25.500 0.994 D D 0.036 2.641 0.200 3.185 1.000 0.598 0.596 0.504 0.530 . 5.280 5.280 4.729 1.138 0.665 1.000 0.998 0.895 911 . . . . HPGD 319 0 296 106 0.263681592039801 TRUE TRUE +ENSG00000164256.11 . BCM GRCh38.p13 chr5 23527194 23527194 + C C A Missense_Mutation SNP ENST00000296682.4 exon11 c.C2106A p.S702R exonic ENSG00000164256.11 . nonsynonymous SNV ENSG00000164256.11:ENST00000296682.4:exon11:c.C2106A:p.S702R 5p14.2 C3L-00813 . . . . . . . . . 0.20 T T B B N N N T N 0.138 T T T 0.044 0.644 0.048 0.262 T T T T T T -0.358 0.236 0.776 N N -1.536 0.071 -1.641 0.064 0.039 0.487 0.574 0.547 0.564 . 2.820 -5.640 -4.919 -0.614 -0.193 0.000 0.005 0.007 984 Zinc_finger_C2H2-type . . . PRDM9 174 0 239 56 0.189830508474576 NA TRUE +ENSG00000171522.6 . BCM GRCh38.p13 chr5 40681520 40681520 + C C T Missense_Mutation SNP ENST00000302472.4 exon2 c.C527T p.T176I exonic ENSG00000171522.6 . nonsynonymous SNV ENSG00000171522.6:ENST00000302472.4:exon2:c.C527T:p.T176I 5p13.1 C3L-00813 . . . . . . . . . 9.20 T D B B D D L T D 0.231 T T T 0.154 0.627 0.222 1.414 T D T T D D 3.027 23.500 0.996 D D 0.081 2.813 0.201 3.189 1.000 0.443 0.552 0.666 0.562 . 5.050 5.050 1.689 1.026 0.599 1.000 1.000 0.999 404 GPCR,_rhodopsin-like,_7TM . . . PTGER4 216 0 283 87 0.235135135135135 TRUE NA +ENSG00000015479.19 . BCM GRCh38.p13 chr5 139325581 139325581 + G G C Missense_Mutation SNP ENST00000394805.8 exon13 c.G2290C p.G764R exonic ENSG00000015479.19;ENSG00000280987.4 . nonsynonymous SNV ENSG00000015479.19:ENST00000394805.8:exon13:c.G2290C:p.G764R,ENSG00000280987.4:ENST00000361059.7:exon16:c.G2290C:p.G764R 5q31.2 C3L-00813 . . . . . . . . . 8.20 D D D D N N N T N 0.308 T T D 0.184 0.368 0.824 0.144 T T T T T D 2.523 22.500 0.999 D D 0.060 2.732 0.172 3.049 1.000 0.672 0.698 0.702 0.711 . 4.500 4.500 1.460 1.176 0.676 1.000 1.000 0.989 614 . . . . MATR3 453 0 126 31 0.197452229299363 TRUE TRUE +ENSG00000204962.6 . BCM GRCh38.p13 chr5 140842804 140842804 + G G T Missense_Mutation SNP ENST00000531613.2 exon1 c.G1483T p.V495L exonic ENSG00000204962.6 . nonsynonymous SNV ENSG00000204962.6:ENST00000531613.2:exon1:c.G1483T:p.V495L 5q31.3 C3L-00813 . . . . . . . . . 2.19 T T B B U D N T D 0.109 T T T 0.054 0.448 0.459 . . T T T T T 1.973 19.050 0.932 N N -0.643 0.911 -0.581 1.076 0.000 0.554 0.588 0.602 0.613 . 3.720 2.820 -0.359 1.097 0.522 0.000 1.000 0.952 32 Cadherin-like . . . PCDHA8 881 0 985 263 0.210737179487179 NA TRUE +ENSG00000118402.6 . BCM GRCh38.p13 chr6 79916816 79916816 + C C A Missense_Mutation SNP ENST00000369816.5 exon6 c.G737T p.W246L exonic ENSG00000118402.6 . nonsynonymous SNV ENSG00000118402.6:ENST00000369816.5:exon6:c.G737T:p.W246L 6q14.1 C3L-00813 . . . . . . . . . 15.20 D D D D D D L T D 0.750 T T D 0.504 0.707 0.480 1.597 D T D D D D 4.068 27.500 0.986 D D 0.704 7.179 0.738 8.534 1.000 0.706 0.588 0.710 0.668 . 5.950 5.950 7.903 1.026 0.599 1.000 1.000 0.993 692 . . . . ELOVL4 317 1 146 39 0.210810810810811 TRUE TRUE +ENSG00000016402.13 . BCM GRCh38.p13 chr6 137001842 137001842 + G G - Frame_Shift_Del DEL ENST00000316649.9 exon7 c.1378delC p.L460Wfs*114 exonic ENSG00000016402.13 . frameshift deletion ENSG00000016402.13:ENST00000316649.9:exon7:c.1378delC:p.L460Wfs*114 6q23.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL20RA 108 0 135 13 0.0878378378378378 TRUE TRUE +ENSG00000135521.9 . BCM GRCh38.p13 chr6 143860547 143860547 + C C T Missense_Mutation SNP ENST00000454207.2 exon3 c.C389T p.A130V exonic ENSG00000135521.9;ENSG00000280148.1 . nonsynonymous SNV ENSG00000280148.1:ENST00000454207.2:exon3:c.C389T:p.A130V,ENSG00000135521.9:ENST00000367576.6:exon7:c.C917T:p.A306V 6q24.2 C3L-00813 . . . . . . . . . 7.19 T T B B D D M . N 0.377 T T T 0.152 0.412 0.726 0.134 T T T T D D 3.869 26.200 0.999 D D 0.263 3.593 0.396 4.329 1.000 0.707 0.725 0.702 0.714 . 6.020 6.020 2.821 1.014 0.596 0.998 1.000 0.993 905 . . . . LTV1 96 0 19 5 0.208333333333333 TRUE TRUE +ENSG00000170419.10 . BCM GRCh38.p13 chr7 54544781 54544781 + G G A Missense_Mutation SNP ENST00000407838.7 exon2 c.G239A p.G80D exonic ENSG00000170419.10 . nonsynonymous SNV ENSG00000170419.10:ENST00000407838.7:exon2:c.G239A:p.G80D 7p11.2 C3L-00813 . . . . . . . . rs946384292 4.20 T T D P N N L T N 0.312 T T D 0.137 0.342 0.728 0.670 T T T T T T 2.855 23.100 0.993 D D 0.269 3.622 0.287 3.640 0.972 0.598 0.578 0.504 0.639 . 5.420 5.420 5.025 1.073 0.665 1.000 0.481 0.606 899 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . VSTM2A 114 0 153 24 0.135593220338983 TRUE NA +ENSG00000006576.16 . BCM GRCh38.p13 chr7 77910380 77910380 + T T G Missense_Mutation SNP ENST00000416283.6 exon9 c.T747G p.D249E exonic ENSG00000006576.16 . nonsynonymous SNV ENSG00000006576.16:ENST00000416283.6:exon9:c.T747G:p.D249E 7q21.11 C3L-00813 . . . . . . . . . 3.19 T T B B D D N . N 0.161 T T T 0.124 0.447 0.143 0.134 T T T T T T 0.996 11.570 0.969 D N -0.869 0.560 -0.719 0.873 0.999 0.744 0.725 0.630 0.584 . 5.500 -4.250 0.979 0.200 0.665 1.000 1.000 1.000 899 . . . . PHTF2 147 0 111 25 0.183823529411765 TRUE TRUE +ENSG00000257923.11 . BCM GRCh38.p13 chr7 102202094 102202094 + G G T Nonsense_Mutation SNP ENST00000292535.12 exon18 c.G2797T p.E933X exonic ENSG00000257923.11 . stopgain ENSG00000257923.11:ENST00000292535.12:exon18:c.G2797T:p.E933X 7q22.1 C3L-00813 . . . . . . . . . 5.6 . . . . D D . . . 0.936 . . . . . . . . . D D . . 8.335 42 0.998 D N 1.212 24.811 1.058 22.945 1.000 0.707 0.654 0.725 0.636 . 5.290 5.290 9.602 1.176 0.676 1.000 0.865 0.989 759 . . . . CUX1 145 0 323 26 0.0744985673352436 TRUE TRUE +ENSG00000005483.21 . BCM GRCh38.p13 chr7 105110330 105110330 + C C G Missense_Mutation SNP ENST00000311117.8 exon24 c.C3806G p.A1269G exonic ENSG00000005483.21 . nonsynonymous SNV ENSG00000005483.21:ENST00000311117.8:exon24:c.C3806G:p.A1269G 7q22.3 C3L-00813 . . . . . . . . . 14.20 D T D D D D L D N 0.536 T T D 0.457 0.304 0.586 0.123 D T D D D D 3.815 25.900 0.998 D D 0.342 4.001 0.443 4.679 1.000 0.672 0.702 0.702 0.711 . 5.270 5.270 6.936 1.026 0.599 1.000 0.982 0.986 809 . . . . KMT2E 113 0 58 6 0.09375 TRUE TRUE +ENSG00000128573.26 . BCM GRCh38.p13 chr7 114629818 114629818 + A A C Missense_Mutation SNP ENST00000350908.9 exon5 c.A410C p.E137A exonic ENSG00000128573.26 . nonsynonymous SNV ENSG00000128573.26:ENST00000350908.9:exon5:c.A410C:p.E137A 7q31.1 C3L-00813 . . . . . . . . . 14.20 D D D D D D L T D 0.723 T T T 0.318 0.224 0.500 0.175 D D D T D D 4.057 27.400 0.994 D D 0.827 9.335 0.841 11.445 1.000 0.554 0.551 0.476 0.621 . 6.160 6.160 8.448 1.312 0.756 1.000 1.000 1.000 770 . . . . FOXP2 427 0 511 102 0.166394779771615 TRUE TRUE +ENSG00000179603.18 . BCM GRCh38.p13 chr7 126769906 126769906 + C C T Missense_Mutation SNP ENST00000339582.7 exon7 c.G1316A p.G439E exonic ENSG00000179603.18 . nonsynonymous SNV ENSG00000179603.18:ENST00000339582.7:exon7:c.G1316A:p.G439E 7q31.33 C3L-00813 . . . . . . . . . 17.20 D D P P D D H D D 0.840 D D D 0.943 0.862 0.867 0.809 T D D D D D 3.781 25.700 0.998 D D 0.958 12.647 0.916 14.439 1.000 0.554 0.574 0.602 0.621 . 5.780 5.780 7.831 1.008 0.599 1.000 1.000 0.999 709 Receptor,_ligand_binding_region . . . GRM8 175 0 95 8 0.0776699029126214 TRUE TRUE +ENSG00000106123.12 . BCM GRCh38.p13 chr7 142870237 142870237 + G G C Missense_Mutation SNP ENST00000652003.1 exon18 c.G2634C p.E878D exonic ENSG00000106123.12 . nonsynonymous SNV ENSG00000106123.12:ENST00000652003.1:exon18:c.G2634C:p.E878D 7q34 C3L-00813 . . . . . . . . . 4.14 . T . . D D . . . 0.157 T T T 0.194 . 0.409 . T T T T T D 2.398 22.100 0.746 D N -0.494 1.188 -0.280 1.605 0.997 0.706 0.547 0.710 0.655 . 5.580 2.810 1.690 1.176 0.676 1.000 1.000 0.999 715 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . EPHB6 233 0 394 73 0.156316916488223 TRUE TRUE +ENSG00000164756.12 . BCM GRCh38.p13 chr8 117135331 117135331 + G G A Missense_Mutation SNP ENST00000456015.6 exon1 c.G4A p.E2K exonic ENSG00000164756.12 . nonsynonymous SNV ENSG00000164756.12:ENST00000456015.6:exon1:c.G4A:p.E2K 8q24.11 C3L-00813 . . . . . . . . . 5.20 T T B B D D N T N 0.318 T T T 0.071 0.364 0.504 0.070 T T T T D T 2.239 21.200 0.992 D D -0.101 2.170 0.126 2.844 0.014 0.487 0.574 0.574 0.564 . 5.790 5.790 4.154 1.155 0.676 1.000 0.996 0.861 945 . . . ID=COSV69974851;OCCURENCE=1(skin) SLC30A8 93 0 63 5 0.0735294117647059 TRUE TRUE +ENSG00000106789.13 . BCM GRCh38.p13 chr9 98134829 98134829 + A A C Missense_Mutation SNP ENST00000375077.5 exon4 c.T445G p.F149V exonic ENSG00000106789.13 . nonsynonymous SNV ENSG00000106789.13:ENST00000375077.5:exon4:c.T445G:p.F149V 9q22.33 C3L-00813 . . . . . . . . . 13.20 D D D P D D N T D 0.821 T T D 0.312 0.531 0.709 0.933 T T D D D D 4.053 27.400 0.990 D D 0.316 3.862 0.426 4.550 1.000 0.706 0.634 0.710 0.568 . 5.520 5.520 7.234 1.312 0.756 1.000 0.997 0.978 803 WD40_repeat,_conserved_site;WD40-repeat-containing_domain . . . CORO2A 104 0 121 48 0.284023668639053 TRUE TRUE +ENSG00000106991.13 . BCM GRCh38.p13 chr9 127825791 127825791 + G G T Missense_Mutation SNP ENST00000373203.8 exon5 c.C593A p.P198Q exonic ENSG00000106991.13 . nonsynonymous SNV ENSG00000106991.13:ENST00000373203.8:exon5:c.C593A:p.P198Q 9q34.11 C3L-00813 6.178e-05 0 0 0 0 0 0 0.0003 rs777633247 7.20 T D D D N N M T N 0.548 T T D 0.118 0.395 0.638 0.750 T T T T D T 3.177 23.800 0.981 D N 0.240 3.483 0.092 2.701 1.000 0.672 0.551 0.504 0.711 . 4.420 4.420 3.332 1.099 0.589 0.763 0.004 0.013 361 . . . . ENG 157 0 241 19 0.0730769230769231 TRUE NA +ENSG00000165695.10 . BCM GRCh38.p13 chr9 132826914 132826914 + A A C Missense_Mutation SNP ENST00000298545.4 exon8 c.T697G p.Y233D exonic ENSG00000165695.10 . nonsynonymous SNV ENSG00000165695.10:ENST00000298545.4:exon8:c.T697G:p.Y233D 9q34.13 C3L-00813 . . . . . . . . . 18.20 D D D D D D H D D 0.917 D D D 0.902 0.794 0.790 0.688 T D D D D T 4.132 28.000 0.993 D D 0.817 9.130 0.732 8.387 1.000 0.554 0.563 0.618 0.542 . 5.340 5.340 6.709 1.312 0.756 1.000 0.993 0.900 811 . . . . AK8 305 0 294 52 0.15028901734104 TRUE TRUE +ENSG00000197321.15 . BCM GRCh38.p13 chr10 29532684 29532684 + C C G Missense_Mutation SNP ENST00000355867.8 exon8 c.G1683C p.K561N exonic ENSG00000197321.15 . nonsynonymous SNV ENSG00000197321.15:ENST00000355867.8:exon8:c.G1683C:p.K561N 10p11.23 C3L-00813 . . . . . . . . . 2.20 D T P B N N M T N 0.088 T T T 0.050 0.244 0.277 0.279 T T T T T T 1.291 14.320 0.979 N N -0.592 1.003 -0.691 0.913 0.966 0.615 0.574 0.659 0.636 . 5.580 1.780 0.141 0.138 0.599 0.001 0.000 0.004 969 . . . . SVIL 145 0 237 49 0.171328671328671 TRUE TRUE +ENSG00000148513.18 . BCM GRCh38.p13 chr10 37219373 37219373 + C C G Missense_Mutation SNP ENST00000602533.6 exon34 c.C3661G p.P1221A exonic ENSG00000148513.18 . nonsynonymous SNV ENSG00000148513.18:ENST00000602533.6:exon34:c.C3661G:p.P1221A 10p11.21 C3L-00813 . . . . . . . . . 3.19 D D B B . N N T N 0.171 T T T 0.051 0.210 0.185 0.010 D T T T T T 0.681 8.283 0.565 N N -1.244 0.198 -1.269 0.230 1.000 0.487 0.574 0.574 0.564 . 2.910 0.964 0.514 -0.178 0.280 0.238 0.013 0.012 934 CCDC144C-like,_coiled-coil_domain . . . ANKRD30A 184 0 52 3 0.0545454545454545 TRUE NA +ENSG00000182170.3 . BCM GRCh38.p13 chr11 3218419 3218419 + G G A Missense_Mutation SNP ENST00000332314.3 exon1 c.C395T p.P132L exonic ENSG00000182170.3 . nonsynonymous SNV ENSG00000182170.3:ENST00000332314.3:exon1:c.C395T:p.P132L 11p15.4 C3L-00813 . . . . . . . . . 1.17 T T . . . D N T N 0.125 T T T 0.160 0.525 0.537 . T T T T T T 0.627 7.773 0.772 N N -1.326 0.151 -1.254 0.241 0.997 0.517 0.574 0.479 0.563 . 3.840 2.700 3.435 0.273 -0.050 0.091 0.002 0.001 976 GPCR,_rhodopsin-like,_7TM . . ID=COSV60040406;OCCURENCE=2(thyroid) MRGPRG 97 0 108 37 0.255172413793103 TRUE TRUE +ENSG00000187918.5 . BCM GRCh38.p13 chr11 5454393 5454393 + C C T Missense_Mutation SNP ENST00000641930.1 exon2 c.C905T p.A302V exonic ENSG00000187918.5 . nonsynonymous SNV ENSG00000187918.5:ENST00000641930.1:exon2:c.C905T:p.A302V 11p15.4 C3L-00813 . . . . . . . . . 1.20 T T P B N N L T N 0.460 T T T 0.110 0.662 0.441 0.014 T T T T D T 1.943 18.820 0.996 N N -0.025 2.425 -0.126 1.976 0.952 0.554 0.574 0.618 0.564 . 5.300 3.330 1.271 1.014 0.596 0.432 0.194 0.111 697 . . . . OR51I2 81 0 76 5 0.0617283950617284 NA TRUE +ENSG00000188162.11 . BCM GRCh38.p13 chr11 17641087 17641087 + A A G Missense_Mutation SNP ENST00000399391.7 exon50 c.A8222G p.E2741G exonic ENSG00000188162.11 . nonsynonymous SNV ENSG00000188162.11:ENST00000399391.7:exon50:c.A8222G:p.E2741G 11p15.1 C3L-00813 . . . . . . . . . 6.18 T D . . U N N T D 0.255 T T D 0.102 0.520 0.242 . T T T T D T 3.046 23.500 0.998 D D 0.029 2.615 0.069 2.609 0.041 0.615 0.590 0.659 0.613 . 4.600 4.600 5.018 1.312 0.691 1.000 0.981 0.781 677 . . . . OTOG 44 0 107 9 0.0775862068965517 TRUE NA +ENSG00000134569.10 . BCM GRCh38.p13 chr11 46890351 46890351 + C C T Nonsense_Mutation SNP ENST00000378623.6 exon14 c.G1841A p.W614X exonic ENSG00000134569.10 . stopgain ENSG00000134569.10:ENST00000378623.6:exon14:c.G1841A:p.W614X 11p11.2 C3L-00813 . . . . . . . . . 5.6 . . . . D A . . . 0.948 . . . . . . . . . D D . . 7.371 38 0.994 D N 0.990 13.619 0.886 13.151 1.000 0.615 0.574 0.659 0.613 . 5.630 5.630 7.905 1.026 0.549 1.000 1.000 0.979 12 . . . . LRP4 456 0 738 71 0.0877626699629172 TRUE TRUE +ENSG00000198382.9 . BCM GRCh38.p13 chr11 76140752 76140752 + G G A Missense_Mutation SNP ENST00000356136.8 exon15 c.G1439A p.R480K exonic ENSG00000198382.9 . nonsynonymous SNV ENSG00000198382.9:ENST00000356136.8:exon15:c.G1439A:p.R480K 11q13.5 C3L-00813 1.728e-05 0 0 0 0 3.079e-05 0 0 rs138770482 6.20 D T B B D D L T N 0.391 T T T 0.186 . 0.366 0.303 T T T T T D 2.514 22.500 0.986 D D 0.234 3.455 0.382 4.231 1.000 0.732 0.702 0.744 0.714 . 5.540 5.540 6.356 1.176 0.676 1.000 1.000 0.976 380 . . . . UVRAG 57 0 49 9 0.155172413793103 TRUE NA +ENSG00000263465.4 . BCM GRCh38.p13 chr11 95068041 95068041 + A A T Missense_Mutation SNP ENST00000587424.2 exon1 c.A815T p.K272M exonic ENSG00000263465.4 . nonsynonymous SNV ENSG00000263465.4:ENST00000587424.2:exon1:c.A815T:p.K272M 11q21 C3L-00813 . . . . . . . . . 5.10 . D D D . . . . . 0.303 . . . . . 0.132 . T T T T . T 2.999 23.400 0.695 D D . . . . 1.000 0.256 0.098 0.218 0.159 . 0.791 0.791 3.397 0.490 0.561 1.000 0.521 0.123 946 . . . . SRSF8 94 0 121 39 0.24375 TRUE TRUE +ENSG00000182326.15 . BCM GRCh38.p13 chr12 7065887 7065887 + C C A Missense_Mutation SNP ENST00000360817.10 exon7 c.C788A p.T263N exonic ENSG00000182326.15 . nonsynonymous SNV ENSG00000182326.15:ENST00000360817.10:exon7:c.C788A:p.T263N 12p13.31 C3L-00813 . . . . . . . . . 10.20 D D P P D D H T D 0.537 T T D 0.200 0.554 0.609 0.699 T T T T D T 2.452 22.300 0.966 D D 0.101 2.892 -0.042 2.222 0.993 0.615 0.563 0.659 0.616 . 5.750 3.870 2.864 0.130 -0.187 0.988 0.008 0.010 707 CUB_domain . . . C1S 419 0 211 25 0.105932203389831 TRUE TRUE +ENSG00000041515.16 . BCM GRCh38.p13 chr13 108785699 108785699 + G G A Missense_Mutation SNP ENST00000356711.7 exon5 c.G506A p.G169E exonic ENSG00000041515.16 . nonsynonymous SNV ENSG00000041515.16:ENST00000356711.7:exon5:c.G506A:p.G169E 13q33.3 C3L-00813 8.348e-06 0 0 0.0001 0 0 0 0 rs755855336 11.19 D D D D U D N T D 0.764 T T D 0.321 0.412 0.619 0.839 T T T D D . 3.623 25.100 0.997 D D 0.471 4.821 0.456 4.784 1.000 0.554 0.588 0.547 0.564 . 5.180 5.180 7.369 1.176 0.676 1.000 0.942 0.495 957 Ankyrin_repeat-containing_domain . . ID=COSV104567067;OCCURENCE=1(skin) MYO16 120 0 27 7 0.205882352941176 TRUE NA +ENSG00000205659.11 . BCM GRCh38.p13 chr14 74198956 74198956 + T T G Missense_Mutation SNP ENST00000674221.1 exon6 c.T330G p.I110M exonic ENSG00000205659.11 . nonsynonymous SNV ENSG00000205659.11:ENST00000674221.1:exon6:c.T330G:p.I110M 14q24.3 C3L-00813 . . . . . . . . . 11.19 D D P P D D M . N 0.871 T T T 0.354 0.654 0.542 0.531 D T D D D D 2.828 23.100 0.996 D N 0.396 4.316 0.374 4.179 0.089 0.707 0.654 0.725 0.636 . 5.900 3.590 1.225 1.138 0.665 1.000 1.000 0.997 432 . . . . LIN52 122 0 112 11 0.0894308943089431 TRUE TRUE +ENSG00000140067.6 . BCM GRCh38.p13 chr14 93928957 93928967 + TCCGGGCCCCC TCCGGGCCCCC - Frame_Shift_Del DEL ENST00000267594.5 exon3 c.858_868del p.P287Gfs*155 exonic ENSG00000140067.6 . frameshift deletion ENSG00000140067.6:ENST00000267594.5:exon3:c.858_868del:p.P287Gfs*155 14q32.12 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM181A 158 0 159 37 0.188775510204082 TRUE TRUE +ENSG00000197102.12 . BCM GRCh38.p13 chr14 102009893 102009893 + C C G Missense_Mutation SNP ENST00000360184.10 exon30 c.C6028G p.P2010A exonic ENSG00000197102.12 . nonsynonymous SNV ENSG00000197102.12:ENST00000360184.10:exon30:c.C6028G:p.P2010A 14q32.31 C3L-00813 . . . . . . . . . 8.19 T . B B D D L T D 0.532 T T T 0.172 0.732 0.180 1.171 D T T T D D 1.996 19.230 0.963 D D 0.108 2.919 0.274 3.569 1.000 0.707 0.725 0.725 0.711 . 5.330 5.330 4.789 1.026 0.599 1.000 0.927 0.884 895 Dynein_heavy_chain,_hydrolytic_ATP-binding_dynein_motor_region_D1;AAA+_ATPase_domain . . . DYNC1H1 321 0 423 81 0.160714285714286 TRUE TRUE +ENSG00000198752.11 . BCM GRCh38.p13 chr14 102954673 102954673 + C C T Missense_Mutation SNP ENST00000361246.7 exon22 c.G2917A p.E973K exonic ENSG00000198752.11 . nonsynonymous SNV ENSG00000198752.11:ENST00000361246.7:exon22:c.G2917A:p.E973K 14q32.32 C3L-00813 . . . . . . . . . 4.20 T T B B N D L T N 0.500 T T T 0.073 0.374 0.474 0.505 T T T T T D 2.856 23.100 0.989 D D -0.143 2.044 0.007 2.382 1.000 0.707 0.654 0.725 0.714 . 5.520 5.520 5.820 1.026 0.599 1.000 0.992 0.979 520 . . . . CDC42BPB 84 0 96 22 0.186440677966102 TRUE TRUE +ENSG00000104055.16 . BCM GRCh38.p13 chr15 43260094 43260094 + G G - Frame_Shift_Del DEL ENST00000220420.10 exon3 c.394delC p.Q132Sfs*2 exonic ENSG00000104055.16 . frameshift deletion ENSG00000104055.16:ENST00000220420.10:exon3:c.394delC:p.Q132Sfs*2 15q15.2 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TGM5 359 1 420 110 0.207547169811321 TRUE TRUE +ENSG00000184716.13 . BCM GRCh38.p13 chr15 43799096 43799096 + G G - Frame_Shift_Del DEL ENST00000319327.6 exon3 c.321delC p.S108Lfs*56 exonic ENSG00000184716.13;ENSG00000262560.1 . frameshift deletion ENSG00000184716.13:ENST00000319327.6:exon3:c.321delC:p.S108Lfs*56 15q15.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERINC4 101 0 147 50 0.253807106598985 TRUE TRUE +ENSG00000103528.17 . BCM GRCh38.p13 chr16 19184053 19184053 + G G A Missense_Mutation SNP ENST00000355377.7 exon5 c.G857A p.R286H exonic ENSG00000103528.17 . nonsynonymous SNV ENSG00000103528.17:ENST00000355377.7:exon5:c.G857A:p.R286H 16p12.3 C3L-00813 5.766e-05 0 8.637e-05 0 0 2.997e-05 0 0.0002 rs777448886 8.20 D T B B D D L T D 0.896 T T D 0.458 0.733 0.442 0.404 T T T T T D 3.089 23.600 0.998 D D 0.255 3.555 0.450 4.733 1.000 0.615 0.588 0.659 0.568 . 5.640 5.640 10.003 1.176 0.676 1.000 1.000 0.997 889 C2_domain;Synaptotagmin . . ID=COSV62546789;OCCURENCE=1(large_intestine) SYT17 242 0 370 35 0.0864197530864197 TRUE TRUE +ENSG00000169340.10 . BCM GRCh38.p13 chr16 20369539 20369539 + C C T Missense_Mutation SNP ENST00000302451.9 exon8 c.G1069A p.E357K exonic ENSG00000169340.10 . nonsynonymous SNV ENSG00000169340.10:ENST00000302451.9:exon8:c.G1069A:p.E357K 16p12.3 C3L-00813 . . . . . . . . . 1.20 T T B B N N L T D 0.252 T T T 0.022 0.424 0.085 0.075 T T T T T T 0.586 7.373 0.890 N N -1.381 0.125 -1.495 0.110 0.005 0.487 0.590 0.574 0.564 . 4.890 -6.730 0.205 -0.335 -0.328 0.080 0.001 0.005 808 . . . ID=COSV56703412;OCCURENCE=1(large_intestine),1(pancreas),2(skin) PDILT 293 1 176 38 0.177570093457944 TRUE TRUE +ENSG00000065457.10 . BCM GRCh38.p13 chr16 75617186 75617186 + A A C Missense_Mutation SNP ENST00000307921.7 exon6 c.T380G p.L127R exonic ENSG00000065457.10 . nonsynonymous SNV ENSG00000065457.10:ENST00000307921.7:exon6:c.T380G:p.L127R 16q23.1 C3L-00813 . . . . . . . . . 16.20 D D B B D D H D D 0.961 D D D 0.919 0.874 0.927 0.012 T D D D D T 3.403 24.400 0.997 D D 0.389 4.277 0.409 4.421 1.000 0.722 0.699 0.725 0.714 . 5.710 5.710 8.254 1.290 0.731 1.000 0.996 0.667 551 Adenosine_deaminase/editase . . . ADAT1 153 0 56 16 0.222222222222222 TRUE TRUE +ENSG00000034152.19 . BCM GRCh38.p13 chr17 21304502 21304502 + G G T Missense_Mutation SNP ENST00000342679.9 exon8 c.G645T p.L215F exonic ENSG00000034152.19 . nonsynonymous SNV ENSG00000034152.19:ENST00000342679.9:exon8:c.G645T:p.L215F 17p11.2 C3L-00813 . . . . . . . . . 12.20 D D D D D D L T D 0.881 T T D 0.354 0.647 0.614 0.627 T T T T D D 3.491 24.700 0.999 D D 0.432 4.546 0.393 4.311 1.000 0.672 0.702 0.571 0.711 . 4.980 4.010 1.377 1.176 0.676 1.000 1.000 0.998 814 Protein_kinase_domain . . . MAP2K3 294 0 454 58 0.11328125 TRUE TRUE +ENSG00000006062.17 . BCM GRCh38.p13 chr17 45290679 45290679 + G G C Missense_Mutation SNP ENST00000344686.8 exon2 c.C67G p.P23A exonic ENSG00000006062.17 . nonsynonymous SNV ENSG00000006062.17:ENST00000344686.8:exon2:c.C67G:p.P23A 17q21.31 C3L-00813 . . . . . . . . . 0.13 . T B B N . . . . 0.056 T T . 0.033 0.122 0.092 . T T T T T T -0.354 0.240 0.408 N . -0.990 0.415 -0.905 0.614 0.999 0.263 0.178 0.293 0.090 0.276 5.090 0.828 -0.064 -0.249 -0.997 0.008 0.778 0.292 566 . . . . MAP3K14 237 0 358 55 0.13317191283293 TRUE TRUE +ENSG00000198909.8 . BCM GRCh38.p13 chr17 63691104 63691104 + G G - Nonsense_Mutation SNP ENST00000361733.8 exon13 c.1215delG p.V406* exonic ENSG00000198909.8 . stopgain ENSG00000198909.8:ENST00000361733.8:exon13:c.1215delG:p.V406* 17q23.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K3 103 0 197 11 0.0528846153846154 NA TRUE +ENSG00000185624.15 . BCM GRCh38.p13 chr17 81845161 81845161 + C C A Missense_Mutation SNP ENST00000331483.9 exon10 c.G1429T p.G477W exonic ENSG00000185624.15 . nonsynonymous SNV ENSG00000185624.15:ENST00000331483.9:exon10:c.G1429T:p.G477W 17q25.3 C3L-00813 . . . . . . . . . 13.20 D D D D D D L T D 0.634 T T D 0.337 0.245 0.387 1.290 T D T T D D 4.412 31 0.995 D D 0.306 3.809 0.422 4.521 1.000 0.672 0.702 0.702 0.711 . 5.160 5.160 5.604 1.026 0.549 1.000 0.921 0.979 . . . . . P4HB 133 0 274 37 0.118971061093248 TRUE TRUE +ENSG00000154832.15 . BCM GRCh38.p13 chr18 50286227 50286227 + C C A Missense_Mutation SNP ENST00000285106.10 exon4 c.G254T p.R85L exonic ENSG00000154832.15 . nonsynonymous SNV ENSG00000154832.15:ENST00000285106.10:exon4:c.G254T:p.R85L 18q21.1 C3L-00813 . . . . . . . . . 13.20 D D D D D D L T D 0.677 T T D 0.363 0.377 0.321 1.880 T D T T D D 4.075 27.500 0.998 D D 0.457 4.717 0.449 4.726 1.000 0.745 0.686 0.732 0.714 . 4.030 4.030 6.231 1.018 0.589 1.000 0.995 0.992 824 . . . . CXXC1 59 0 103 22 0.176 TRUE TRUE +ENSG00000176695.8 . BCM GRCh38.p13 chr19 110826 110826 + T T - Frame_Shift_Del DEL ENST00000585993.3 exon3 c.148delT p.S50Lfs*7 exonic ENSG00000176695.8 . frameshift deletion ENSG00000176695.8:ENST00000585993.3:exon3:c.148delT:p.S50Lfs*7 19p13.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR4F17 176 0 52 16 0.235294117647059 NA TRUE +ENSG00000105278.12 . BCM GRCh38.p13 chr19 3833682 3833682 + C C A Missense_Mutation SNP ENST00000262961.9 exon3 c.G361T p.A121S exonic ENSG00000105278.12 . nonsynonymous SNV ENSG00000105278.12:ENST00000262961.9:exon3:c.G361T:p.A121S 19p13.3 C3L-00813 . . . . . . . . . 0.20 T T B B U N L T N 0.098 T T T 0.047 0.090 0.014 0.071 T T T T T T -0.651 0.056 0.707 N N -1.801 0.023 -1.899 0.022 0.028 0.515 0.551 0.604 0.542 . 2.460 -3.590 -1.516 -1.512 -2.097 0.041 0.000 0.000 976 . . . . ZFR2 70 0 123 20 0.13986013986014 TRUE NA +ENSG00000127663.15 . BCM GRCh38.p13 chr19 5144030 5144030 + G G A Missense_Mutation SNP ENST00000159111.9 exon19 c.G2614A p.E872K exonic ENSG00000127663.15 . nonsynonymous SNV ENSG00000127663.15:ENST00000159111.9:exon19:c.G2614A:p.E872K 19p13.3 C3L-00813 8.347e-06 0 0 0 0 1.525e-05 0 0 rs778616444 10.19 D D D P D D . T N 0.480 T T D 0.306 0.510 0.314 1.860 T T T T D D 4.107 27.800 0.999 D D 0.445 4.638 0.494 5.104 1.000 0.632 0.698 0.723 0.563 . 4.490 4.490 9.942 1.101 0.590 1.000 0.980 0.869 970 Zinc_finger,_PHD-type;Extended_PHD_(ePHD)_domain . . . KDM4B 95 0 128 24 0.157894736842105 TRUE NA +ENSG00000161847.14 . BCM GRCh38.p13 chr19 10323490 10323490 + G G A Missense_Mutation SNP ENST00000615032.4 exon4 c.C833T p.A278V exonic ENSG00000161847.14 . nonsynonymous SNV ENSG00000161847.14:ENST00000615032.4:exon4:c.C833T:p.A278V 19p13.2 C3L-00813 . . . . . . . . . 1.20 T T P B N N N T N 0.354 T T T 0.119 0.554 0.510 0.833 T T T T T T 0.737 8.795 0.731 D N -0.923 0.492 -0.866 0.666 0.031 0.707 0.698 0.702 0.714 . 4.610 1.300 1.447 0.213 -0.159 0.787 0.093 0.121 726 RNA_recognition_motif_domain . . . RAVER1 87 0 175 10 0.0540540540540541 TRUE TRUE +ENSG00000076650.7 . BCM GRCh38.p13 chr19 33109960 33109960 + C C T Missense_Mutation SNP ENST00000170564.7 exon11 c.C1529T p.P510L exonic ENSG00000076650.7 . nonsynonymous SNV ENSG00000076650.7:ENST00000170564.7:exon11:c.C1529T:p.P510L 19q13.11 C3L-00813 2.489e-05 9.69e-05 0 0 0 3.021e-05 0 0 rs749564199 11.20 D T D D D D M T D 0.659 T T T 0.282 0.577 0.497 0.288 T T T T D D 3.820 25.900 0.999 D D 0.716 7.345 0.720 8.139 1.000 0.707 0.725 0.725 0.692 . 5.740 5.740 6.266 1.018 0.599 1.000 0.713 0.990 684 . . . . GPATCH1 112 0 156 49 0.239024390243902 TRUE NA +ENSG00000167578.18 . BCM GRCh38.p13 chr19 40786887 40786887 + A A G Missense_Mutation SNP ENST00000357052.8 exon7 c.A566G p.Y189C exonic ENSG00000167578.18;ENSG00000171570.11 . nonsynonymous SNV ENSG00000167578.18:ENST00000357052.8:exon7:c.A566G:p.Y189C,ENSG00000171570.11:ENST00000594136.2:exon7:c.A566G:p.Y189C 19q13.2 C3L-00813 . . . . . . . . . 15.20 D T D D D D M T D 0.582 T T D 0.416 0.266 0.739 0.388 D T D D D D 3.520 24.800 0.996 D D 0.352 4.059 0.313 3.794 1.000 0.732 0.744 0.710 0.714 . 4.770 4.770 7.486 1.290 0.656 1.000 0.689 0.075 502 . . . . RAB4B 196 0 284 67 0.190883190883191 TRUE TRUE +ENSG00000124214.19 . BCM GRCh38.p13 chr20 49154016 49154016 + T T - Frame_Shift_Del DEL ENST00000371856.6 exon4 c.261delA p.K87Nfs*21 exonic ENSG00000124214.19 . frameshift deletion ENSG00000124214.19:ENST00000371856.6:exon4:c.261delA:p.K87Nfs*21 20q13.13 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAU1 105 0 48 4 0.0769230769230769 NA TRUE +ENSG00000198951.12 . BCM GRCh38.p13 chr22 42067129 42067129 + G G - Frame_Shift_Del DEL ENST00000396398.8 exon4 c.486delC p.E163Rfs*14 exonic ENSG00000198951.12 . frameshift deletion ENSG00000198951.12:ENST00000396398.8:exon4:c.486delC:p.E163Rfs*14 22q13.2 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAGA 187 0 216 61 0.220216606498195 TRUE TRUE +ENSG00000185448.10 . BCM GRCh38.p13 chrX 34131245 34131245 + C C A Missense_Mutation SNP ENST00000346193.4 exon1 c.G1034T p.R345L exonic ENSG00000185448.10 . nonsynonymous SNV ENSG00000185448.10:ENST00000346193.4:exon1:c.G1034T:p.R345L Xp21.1 C3L-00813 . . . . . . . . . 1.18 D T B B . N L T N 0.190 T T T 0.017 0.397 0.043 0.842 T T T T T T 0.880 10.230 0.942 N . . . . . 0.000 . . . . . 0.226 0.226 -0.579 -0.518 -0.591 0.001 0.013 0.016 937 . . . . FAM47A 67 0 102 46 0.310810810810811 TRUE TRUE +ENSG00000007908.16 . BCM GRCh38.p13 chr1 169730550 169730550 + G G A Silent SNP ENST00000333360.12 exon5 c.C597T p.N199N exonic ENSG00000007908.16 . synonymous SNV ENSG00000007908.16:ENST00000333360.12:exon5:c.C597T:p.N199N 1q24.2 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SELE 120 0 88 15 0.145631067961165 TRUE NA +ENSG00000116984.13 . BCM GRCh38.p13 chr1 236891263 236891263 + G G A Silent SNP ENST00000366577.10 exon29 c.G3138A p.L1046L exonic ENSG00000116984.13 . synonymous SNV ENSG00000116984.13:ENST00000366577.10:exon29:c.G3138A:p.L1046L 1q43 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTR 230 0 259 75 0.224550898203593 TRUE TRUE +ENSG00000162711.17 . BCM GRCh38.p13 chr1 247424811 247424811 + G G C Silent SNP ENST00000336119.7 exon3 c.G1368C p.G456G exonic ENSG00000162711.17 . synonymous SNV ENSG00000162711.17:ENST00000336119.7:exon3:c.G1368C:p.G456G 1q44 C3L-00813 8.299e-06 0 0 0 0 1.513e-05 0 0 rs200314422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLRP3 157 0 222 54 0.195652173913043 TRUE NA +ENSG00000115216.14 . BCM GRCh38.p13 chr2 27434733 27434733 + T T G Silent SNP ENST00000379852.8 exon6 c.T537G p.R179R exonic ENSG00000115216.14 . synonymous SNV ENSG00000115216.14:ENST00000379852.8:exon6:c.T537G:p.R179R 2p23.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRBP1 192 0 83 20 0.194174757281553 TRUE TRUE +ENSG00000250312.8 . BCM GRCh38.p13 chr4 161774 161774 + A A C Silent SNP ENST00000510175.6 exon4 c.A1089C p.G363G exonic ENSG00000250312.8 . synonymous SNV ENSG00000250312.8:ENST00000510175.6:exon4:c.A1089C:p.G363G 4p16.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF718 155 0 40 7 0.148936170212766 TRUE TRUE +ENSG00000124496.12 . BCM GRCh38.p13 chr6 42228654 42228654 + G G T Silent SNP ENST00000372922.8 exon18 c.C3294A p.I1098I exonic ENSG00000124496.12 . synonymous SNV ENSG00000124496.12:ENST00000372922.8:exon18:c.C3294A:p.I1098I 6p21.1 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRERF1 84 0 106 30 0.220588235294118 TRUE TRUE +ENSG00000095139.14 . BCM GRCh38.p13 chr11 118583244 118583244 + T T C Silent SNP ENST00000264028.5 exon3 c.T333C p.F111F exonic ENSG00000095139.14 . synonymous SNV ENSG00000095139.14:ENST00000264028.5:exon3:c.T333C:p.F111F 11q23.3 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARCN1 201 0 86 24 0.218181818181818 TRUE TRUE +ENSG00000151503.13 . BCM GRCh38.p13 chr11 134184703 134184703 + G G A Silent SNP ENST00000534548.7 exon19 c.C2385T p.I795I exonic ENSG00000151503.13 . synonymous SNV ENSG00000151503.13:ENST00000534548.7:exon19:c.C2385T:p.I795I 11q25 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCAPD3 82 0 71 11 0.134146341463415 TRUE NA +ENSG00000168701.19 . BCM GRCh38.p13 chr16 67228411 67228411 + C C T Silent SNP ENST00000304800.14 exon3 c.C159T p.A53A exonic ENSG00000168701.19 . synonymous SNV ENSG00000168701.19:ENST00000304800.14:exon3:c.C159T:p.A53A 16q22.1 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM208 206 0 188 34 0.153153153153153 TRUE TRUE +ENSG00000141485.17 . BCM GRCh38.p13 chr17 6713280 6713280 + G G A Silent SNP ENST00000433363.7 exon1 c.C54T p.F18F exonic ENSG00000141485.17 . synonymous SNV ENSG00000141485.17:ENST00000433363.7:exon1:c.C54T:p.F18F 17p13.1 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC13A5 215 1 282 72 0.203389830508475 TRUE TRUE +ENSG00000197408.10 . BCM GRCh38.p13 chr19 41012341 41012341 + C C A Silent SNP ENST00000324071.10 exon7 c.C1008A p.R336R exonic ENSG00000197408.10 . synonymous SNV ENSG00000197408.10:ENST00000324071.10:exon7:c.C1008A:p.R336R 19q13.2 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP2B6 318 1 399 47 0.105381165919283 NA TRUE +ENSG00000142408.5 . BCM GRCh38.p13 chr19 53982300 53982300 + C C G Silent SNP ENST00000270458.2 exon4 c.C729G p.L243L exonic ENSG00000142408.5 . synonymous SNV ENSG00000142408.5:ENST00000270458.2:exon4:c.C729G:p.L243L 19q13.42 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNG8 573 0 622 167 0.211660329531052 TRUE TRUE +ENSG00000198959.12 . BCM GRCh38.p13 chr20 38148021 38148021 + G G A Silent SNP ENST00000361475.7 exon5 c.C621T p.A207A exonic ENSG00000198959.12 . synonymous SNV ENSG00000198959.12:ENST00000361475.7:exon5:c.C621T:p.A207A 20q11.23 C3L-00813 2.715e-05 0 0 0.0001 0 3.285e-05 0 0 rs770029921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TGM2 258 0 389 105 0.212550607287449 TRUE NA +ENSG00000009694.13 . BCM GRCh38.p13 chrX 124380989 124380989 + G G A Silent SNP ENST00000371130.7 exon31 c.C7725T p.F2575F exonic ENSG00000009694.13 . synonymous SNV ENSG00000009694.13:ENST00000371130.7:exon31:c.C7725T:p.F2575F Xq25 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64424855;OCCURENCE=1(endometrium) TENM1 84 0 44 25 0.36231884057971 TRUE TRUE +ENSG00000077380.15 . BCM GRCh38.p13 chr2 171707235 171707235 + G G A Intron SNP NA NA NA NA intronic ENSG00000077380.15 . . . 2q31.1 C3L-00813 . . . . . . . . . 4.15 T T . . . D . T N 0.235 T T T 0.102 0.340 0.704 . . T T T D T 2.201 20.900 0.994 D D -0.156 2.003 0.016 2.416 1.000 0.476 0.602 0.547 0.613 . 4.830 4.830 3.335 1.176 0.618 1.000 1.000 0.999 560 . . . . DYNC1I2 221 0 132 21 0.137254901960784 TRUE NA +ENSG00000138439.12 . BCM GRCh38.p13 chr2 202725023 202725023 + T T - Intron SNP NA NA NA NA intronic ENSG00000138439.12 . . . 2q33.2 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM117B 163 0 56 18 0.243243243243243 TRUE NA +ENSG00000072182.12 . BCM GRCh38.p13 chr2 219533023 219533024 + CC CC AT Unknown MNP NA NA NA NA intronic ENSG00000072182.12 . . . 2q35 C3L-00813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASIC4 103 17 137 19 0.121794871794872 TRUE NA +ENSG00000162591.16 . BCM GRCh38.p13 chr1 3507804 3507807 + AGTT AGTT - Frame_Shift_Del DEL ENST00000356575.9 exon14 c.1777_1780del p.N593Vfs*117 exonic ENSG00000162591.16 . frameshift deletion ENSG00000162591.16:ENST00000356575.9:exon14:c.1777_1780del:p.N593Vfs*117 1p36.32 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEGF6 322 0 197 60 0.233463035019455 TRUE TRUE +ENSG00000121753.12 . BCM GRCh38.p13 chr1 31756578 31756578 + C C A Nonsense_Mutation SNP ENST00000373658.7 exon4 c.G259T p.E87X exonic ENSG00000121753.12 . stopgain ENSG00000121753.12:ENST00000373658.7:exon4:c.G259T:p.E87X 1p35.2 C3L-00814 . . . . . . . . . 5.6 . . . . D A . . . 0.346 . . . . . . . . . D D . . 6.465 36 0.997 D N 1.022 14.618 0.869 12.499 1.000 0.718 0.590 0.571 0.568 . 5.040 5.040 4.760 1.026 0.599 1.000 1.000 0.997 578 . . . . ADGRB2 65 0 48 16 0.25 NA TRUE +ENSG00000279111.2 . BCM GRCh38.p13 chr1 158579520 158579520 + T T - Frame_Shift_Del DEL ENST00000623167.1 exon1 c.380delA p.N127Tfs*7 exonic ENSG00000279111.2 . frameshift deletion ENSG00000279111.2:ENST00000623167.1:exon1:c.380delA:p.N127Tfs*7 1q23.1 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR10X1 201 0 99 52 0.344370860927152 TRUE TRUE +ENSG00000094975.14 . BCM GRCh38.p13 chr1 172589827 172589827 + A A G Missense_Mutation SNP ENST00000263688.4 exon18 c.A2726G p.N909S exonic ENSG00000094975.14 . nonsynonymous SNV ENSG00000094975.14:ENST00000263688.4:exon18:c.A2726G:p.N909S 1q24.3 C3L-00814 . . . . . . . . . 6.19 T T D P D D L . N 0.176 T T T 0.114 . 0.329 0.376 T T T T D D 2.825 23.100 0.988 D N 0.446 4.642 0.488 5.049 1.000 0.722 0.699 0.725 0.635 . 5.500 5.500 4.930 1.312 0.756 1.000 1.000 1.000 488 . . . ID=COSV99742851;OCCURENCE=1(large_intestine) SUCO 66 0 54 3 0.0526315789473684 TRUE NA +ENSG00000184144.12 . BCM GRCh38.p13 chr1 205064330 205064330 + C C G Missense_Mutation SNP ENST00000331830.7 exon11 c.C1249G p.P417A exonic ENSG00000184144.12 . nonsynonymous SNV ENSG00000184144.12:ENST00000331830.7:exon11:c.C1249G:p.P417A 1q32.1 C3L-00814 . . . . . . . . . 17.20 D D D D N D H T D 0.883 D D D 0.689 0.778 0.962 1.182 T D D D D D 3.415 24.400 0.997 D D 0.889 10.767 0.777 9.471 1.000 0.554 0.547 0.602 0.542 . 5.000 5.000 7.520 1.023 0.599 1.000 0.805 0.805 368 Immunoglobulin-like_domain . . . CNTN2 57 0 42 20 0.32258064516129 TRUE TRUE +ENSG00000162897.16 . BCM GRCh38.p13 chr1 206962503 206962503 + C C T Missense_Mutation SNP ENST00000324852.9 exon5 c.G362A p.G121E exonic ENSG00000162897.16 . nonsynonymous SNV ENSG00000162897.16:ENST00000324852.9:exon5:c.G362A:p.G121E 1q32.1 C3L-00814 . . . . . . . . . 7.17 D D . . D D . T D 0.749 T T T 0.176 . 0.590 0.706 T T T T D T 2.756 22.900 0.998 D N 0.497 5.009 0.440 4.658 1.000 0.487 0.492 0.547 0.564 . 5.320 4.410 2.013 1.026 0.599 0.859 0.960 0.839 816 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV61367176;OCCURENCE=1(skin) FCAMR 71 0 64 6 0.0857142857142857 TRUE TRUE +ENSG00000117724.13 . BCM GRCh38.p13 chr1 214640568 214640568 + A A C Missense_Mutation SNP ENST00000366955.8 exon12 c.A2230C p.N744H exonic ENSG00000117724.13 . nonsynonymous SNV ENSG00000117724.13:ENST00000366955.8:exon12:c.A2230C:p.N744H 1q41 C3L-00814 . . . . . . . . . 3.19 D T D P N N . T N 0.186 T T T 0.073 0.123 0.281 0.191 T T T T D T 2.384 22.000 0.992 N N -0.150 2.023 -0.291 1.584 0.994 0.707 0.725 0.702 0.714 . 5.810 2.040 1.754 1.290 0.731 0.554 0.968 0.796 898 . . . . CENPF 226 0 160 11 0.064327485380117 TRUE TRUE +ENSG00000221888.4 . BCM GRCh38.p13 chr1 247758123 247758123 + G G A Missense_Mutation SNP ENST00000641256.1 exon2 c.C284T p.A95V exonic ENSG00000221888.4 . nonsynonymous SNV ENSG00000221888.4:ENST00000641256.1:exon2:c.C284T:p.A95V 1q44 C3L-00814 . . . . . . . . . 0.19 T T B B . N L T N 0.094 T T T 0.017 0.423 0.122 0.016 T T T T T T 1.079 12.550 0.963 N N -1.036 0.367 -1.060 0.418 0.000 0.487 0.574 0.574 0.564 . 3.190 -1.310 -0.438 0.704 0.639 0.000 0.969 0.417 958 GPCR,_rhodopsin-like,_7TM . . . OR1C1 180 0 133 76 0.363636363636364 TRUE TRUE +ENSG00000115761.16 . BCM GRCh38.p13 chr2 10589604 10589605 + AG AG - Frame_Shift_Del DEL ENST00000381685.10 exon18 c.1569_1570del p.L524Rfs*7 exonic ENSG00000115761.16 . frameshift deletion ENSG00000115761.16:ENST00000381685.10:exon18:c.1569_1570del:p.L524Rfs*7 2p25.1 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOL10 58 0 39 25 0.390625 TRUE TRUE +ENSG00000205221.12 . BCM GRCh38.p13 chr2 36805443 36805443 + G G A Missense_Mutation SNP ENST00000389975.7 exon13 c.G1123A p.A375T exonic ENSG00000205221.12 . nonsynonymous SNV ENSG00000205221.12:ENST00000389975.7:exon13:c.G1123A:p.A375T 2p22.2 C3L-00814 . . . . . . . . . 19.20 D D D D D D H D D 0.973 D D D 0.932 0.840 0.888 0.198 T D D D D D 4.161 28.300 0.999 D D 1.086 16.922 1.002 18.938 1.000 0.487 0.590 0.574 0.542 . 5.490 5.490 9.564 1.176 0.676 1.000 1.000 0.975 716 von_Willebrand_factor,_type_A . . . VIT 80 0 53 21 0.283783783783784 TRUE TRUE +ENSG00000095002.15 . BCM GRCh38.p13 chr2 47408518 47408518 + A A T Missense_Mutation SNP ENST00000233146.7 exon2 c.A329T p.K110M exonic ENSG00000095002.15 . nonsynonymous SNV ENSG00000095002.15:ENST00000233146.7:exon2:c.A329T:p.K110M 2p21 C3L-00814 . . . . . . . . . 18.20 D D D D D D L D D 0.815 D D D 0.621 0.414 0.904 0.030 T D D D D D 3.958 26.700 0.991 D D 0.374 4.185 0.257 3.474 0.070 0.732 0.744 0.644 0.728 . 5.310 2.960 6.337 1.292 0.667 1.000 1.000 0.999 807 DNA_mismatch_repair_protein_MutS-like,_N-terminal . . . MSH2 296 1 255 80 0.238805970149254 TRUE TRUE +ENSG00000168658.19 . BCM GRCh38.p13 chr2 98256140 98256140 + G G T Missense_Mutation SNP ENST00000477737.6 exon21 c.G2809T p.V937F exonic ENSG00000168658.19 . nonsynonymous SNV ENSG00000168658.19:ENST00000477737.6:exon21:c.G2809T:p.V937F 2q11.2 C3L-00814 . . . . . . . . . 11.20 D D D D N D M T D 0.926 T T T 0.197 0.403 0.363 0.521 T T D D D T 3.893 26.300 0.994 D N 0.606 5.986 0.543 5.579 0.000 0.487 0.574 0.574 0.542 . 4.340 3.450 3.417 1.176 0.676 1.000 1.000 1.000 434 . . . . VWA3B 148 0 117 32 0.214765100671141 TRUE TRUE +ENSG00000163075.13 . BCM GRCh38.p13 chr2 119559705 119559705 + C C T Missense_Mutation SNP ENST00000413369.8 exon4 c.C257T p.S86F exonic ENSG00000163075.13 . nonsynonymous SNV ENSG00000163075.13:ENST00000413369.8:exon4:c.C257T:p.S86F 2q14.2 C3L-00814 . . . . . . . . . 8.17 D D . . . D M T D 0.580 T T D 0.180 0.486 0.467 0.177 T T T T D T 2.940 23.300 0.996 D N -0.047 2.348 -0.112 2.014 0.136 0.487 0.590 0.574 0.542 . 4.490 3.610 3.365 1.026 0.597 0.995 0.063 0.049 873 . . . . CFAP221 214 0 209 17 0.0752212389380531 TRUE TRUE +ENSG00000173302.5 . BCM GRCh38.p13 chr2 130730088 130730088 + C C A Missense_Mutation SNP ENST00000309926.4 exon1 c.C937A p.R313S exonic ENSG00000173302.5 . nonsynonymous SNV ENSG00000173302.5:ENST00000309926.4:exon1:c.C937A:p.R313S 2q21.1 C3L-00814 . . . . . . . . . 3.20 T T D P U N M T N 0.154 T T T 0.170 0.721 0.433 0.529 T T T T D T 2.634 22.700 0.995 N N -0.112 2.138 -0.182 1.829 0.002 0.497 0.547 0.590 0.542 . 3.190 0.649 0.873 -0.518 0.524 0.923 0.274 0.968 952 GPCR,_rhodopsin-like,_7TM . . . GPR148 91 0 82 5 0.0574712643678161 NA TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142061 10142061 + T T C Missense_Mutation SNP ENST00000256474.3 exon1 c.T214C p.S72P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T214C:p.S72P 3p25.3 C3L-00814 . . . . . . . . rs869025618 13.20 T T D P N N M D D 0.847 D D D 0.725 0.713 1.000 1.135 D D D D D T 3.234 23.900 0.998 D N 0.117 2.954 0.035 2.481 1.000 0.442 0.522 0.522 0.562 . 5.430 2.830 0.404 0.971 0.576 0.076 0.991 0.930 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56544742;OCCURENCE=4(kidney) VHL 396 0 172 90 0.343511450381679 TRUE TRUE +ENSG00000178917.16 . BCM GRCh38.p13 chr3 44499289 44499289 + C C A Missense_Mutation SNP ENST00000436261.5 exon4 c.G1488T p.M496I exonic ENSG00000178917.16 . nonsynonymous SNV ENSG00000178917.16:ENST00000436261.5:exon4:c.G1488T:p.M496I 3p21.31 C3L-00814 . . . . . . . . . 1.15 T T . . . D . T N 0.292 T T T 0.070 . 0.099 0.021 T T T T T . 1.334 14.630 0.989 N N -0.658 0.884 -0.627 1.006 0.004 0.651 0.447 0.651 0.714 . 2.860 2.860 -1.031 1.026 0.549 0.000 0.996 0.949 323 . . . . ZNF852 139 0 54 43 0.443298969072165 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47083823 47083823 + C C - Frame_Shift_Del DEL ENST00000409792.3 exon12 c.5957delG p.G1986Vfs*20 exonic ENSG00000181555.20 . frameshift deletion ENSG00000181555.20:ENST00000409792.3:exon12:c.5957delG:p.G1986Vfs*20 3p21.31 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETD2 226 0 189 11 0.055 NA TRUE +ENSG00000076201.15 . BCM GRCh38.p13 chr3 47410755 47410755 + C C A Missense_Mutation SNP ENST00000265562.5 exon20 c.C2957A p.P986H exonic ENSG00000076201.15 . nonsynonymous SNV ENSG00000076201.15:ENST00000265562.5:exon20:c.C2957A:p.P986H 3p21.31 C3L-00814 . . . . . . . . . 4.20 D D P B N D M T N 0.331 T T T 0.044 0.212 0.155 0.068 T T T T T T 1.980 19.100 0.772 N N -0.462 1.253 -0.542 1.135 1.000 0.672 0.702 0.723 0.711 . 4.290 3.400 0.196 0.952 0.594 0.000 0.029 0.027 20 . . . . PTPN23 123 1 69 4 0.0547945205479452 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52564154 52564154 + A A T Nonsense_Mutation SNP ENST00000296302.11 exon23 c.T3771A p.C1257X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon23:c.T3771A:p.C1257X 3p21.1 C3L-00814 . . . . . . . . . 5.6 . . . . D D . . . 0.770 . . . . . . . . . D D . . 7.719 39 0.986 D N 0.710 7.258 0.569 5.858 0.042 0.707 0.654 0.725 0.714 . 5.190 4.050 2.279 1.312 0.756 1.000 1.000 0.999 37 Bromo_adjacent_homology_(BAH)_domain . . . PBRM1 372 0 93 57 0.38 TRUE TRUE +ENSG00000138246.17 . BCM GRCh38.p13 chr3 132463759 132463759 + C C T Nonsense_Mutation SNP ENST00000260818.11 exon17 c.C1834T p.R612X exonic ENSG00000138246.17 . stopgain ENSG00000138246.17:ENST00000260818.11:exon17:c.C1834T:p.R612X 3q22.1 C3L-00814 8.244e-06 0 0 0 0 1.499e-05 0 0 rs751081895 5.6 . . . . D A . . . 0.466 . . . . . . . . . D D . . 7.176 37 0.998 D N 0.834 9.478 0.716 8.071 1.000 0.732 0.744 0.744 0.735 . 5.350 5.350 3.637 1.026 0.599 1.000 1.000 1.000 818 . . . . DNAJC13 228 1 162 30 0.15625 TRUE NA +ENSG00000075420.13 . BCM GRCh38.p13 chr3 172380985 172380985 + A A C Missense_Mutation SNP ENST00000415807.7 exon25 c.A3195C p.L1065F exonic ENSG00000075420.13 . nonsynonymous SNV ENSG00000075420.13:ENST00000415807.7:exon25:c.A3195C:p.L1065F 3q26.31 C3L-00814 . . . . . . . . . 10.20 D T D P D D M T D 0.534 T T D 0.353 0.540 0.502 0.666 T T T T D D 3.228 23.900 0.998 D N 0.175 3.195 0.068 2.605 0.805 0.732 0.654 0.744 0.714 . 6.070 -2.620 0.652 0.314 0.756 0.999 1.000 0.999 912 Fibronectin_type_III . . . FNDC3B 171 0 173 13 0.0698924731182796 TRUE TRUE +ENSG00000198515.14 . BCM GRCh38.p13 chr4 47936655 47936672 + AATGTTTAGATCCAGTAG AATGTTTAGATCCAGTAG - In_Frame_Del DEL ENST00000514170.6 exon11 c.1822_1839del p.L608_I613del exonic ENSG00000198515.14 . nonframeshift deletion ENSG00000198515.14:ENST00000514170.6:exon11:c.1822_1839del:p.L608_I613del 4p12 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNGA1 503 0 403 112 0.21747572815534 TRUE TRUE +ENSG00000151726.14 . BCM GRCh38.p13 chr4 184773686 184773686 + A A C Missense_Mutation SNP ENST00000515030.5 exon9 c.T818G p.I273S exonic ENSG00000151726.14 . nonsynonymous SNV ENSG00000151726.14:ENST00000515030.5:exon9:c.T818G:p.I273S 4q35.1 C3L-00814 . . . . . . . . . 16.20 D D P D N D H T D 0.873 D D D 0.644 0.773 0.867 1.232 T D D D D D 4.238 29.000 0.993 D D 0.770 8.227 0.745 8.682 1.000 0.706 0.725 0.653 0.613 . 5.760 5.760 9.082 1.312 0.756 1.000 0.979 0.979 956 AMP-binding,_conserved_site;AMP-dependent_synthetase/ligase . . . ACSL1 139 0 116 41 0.261146496815287 TRUE TRUE +ENSG00000066230.12 . BCM GRCh38.p13 chr5 476076 476076 + G G T Missense_Mutation SNP ENST00000264938.8 exon14 c.C2084A p.P695H exonic ENSG00000066230.12 . nonsynonymous SNV ENSG00000066230.12:ENST00000264938.8:exon14:c.C2084A:p.P695H 5p15.33 C3L-00814 . . . . . . . . . 9.20 D D D P N N M T D 0.268 T D D 0.287 0.165 0.543 0.945 T T T T D T 4.105 27.800 0.991 D N 0.400 4.344 0.326 3.874 1.000 0.635 0.644 0.494 0.639 . 4.260 4.260 2.143 1.105 0.602 0.998 0.846 0.980 835 . . . ID=COSV99376427;OCCURENCE=1(skin) SLC9A3 146 0 104 13 0.111111111111111 TRUE TRUE +ENSG00000198677.12 . BCM GRCh38.p13 chr5 95537055 95537055 + C C G Missense_Mutation SNP ENST00000358746.7 exon9 c.G630C p.Q210H exonic ENSG00000198677.12 . nonsynonymous SNV ENSG00000198677.12:ENST00000358746.7:exon9:c.G630C:p.Q210H 5q15 C3L-00814 . . . . . . . . . 2.20 T T B B N N M T N 0.139 T T T 0.057 0.364 0.673 0.071 T T T T T T 1.355 14.770 0.963 D N -0.553 1.075 -0.457 1.273 0.888 0.732 0.744 0.651 0.728 . 5.600 -0.513 0.321 -0.275 -0.190 0.993 0.970 0.966 632 . . . . TTC37 300 0 169 66 0.280851063829787 TRUE TRUE +ENSG00000198961.10 . BCM GRCh38.p13 chr5 109378714 109378717 + CTCT CTCT - Frame_Shift_Del DEL ENST00000361189.7 exon4 c.770_773del p.Q257Rfs*56 exonic ENSG00000198961.10 . frameshift deletion ENSG00000198961.10:ENST00000361189.7:exon4:c.770_773del:p.Q257Rfs*56 5q21.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PJA2 209 0 102 63 0.381818181818182 TRUE TRUE +ENSG00000171467.16 . BCM GRCh38.p13 chr6 43357722 43357722 + A A T Missense_Mutation SNP ENST00000361428.3 exon3 c.T592A p.C198S exonic ENSG00000171467.16 . nonsynonymous SNV ENSG00000171467.16:ENST00000361428.3:exon3:c.T592A:p.C198S 6p21.1 C3L-00814 . . . . . . . . . 8.20 D T D D D D L T N 0.815 T T T 0.230 0.386 0.279 0.420 T T D T D T 3.542 24.800 0.991 D N 0.294 3.747 0.331 3.902 1.000 0.632 0.698 0.651 0.636 . 5.090 5.090 2.274 1.312 0.756 0.965 0.995 0.990 226 . . . . ZNF318 138 0 79 25 0.240384615384615 TRUE TRUE +ENSG00000135299.17 . BCM GRCh38.p13 chr6 89606023 89606023 + T T G Missense_Mutation SNP ENST00000339746.9 exon5 c.T335G p.L112W exonic ENSG00000135299.17 . nonsynonymous SNV ENSG00000135299.17:ENST00000339746.9:exon5:c.T335G:p.L112W 6q15 C3L-00814 . . . . . . . . . 19.20 D D D D D D H D D 0.895 D D D 0.932 0.816 0.987 0.420 D T D D D D 4.146 28.200 0.958 D D 0.912 11.364 0.763 9.112 1.000 0.706 0.588 0.710 0.568 . 4.980 4.980 7.674 1.138 0.665 1.000 0.886 0.783 717 Ankyrin_repeat-containing_domain . . . ANKRD6 90 0 58 31 0.348314606741573 TRUE TRUE +ENSG00000004766.17 . BCM GRCh38.p13 chr7 93334181 93334181 + A A - Frame_Shift_Del DEL ENST00000305866.10 exon22 c.2042delA p.S682Afs*5 exonic ENSG00000004766.17 . frameshift deletion ENSG00000004766.17:ENST00000305866.10:exon22:c.2042delA:p.S682Afs*5 7q21.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS50 234 0 121 30 0.198675496688742 TRUE TRUE +ENSG00000169876.14 . BCM GRCh38.p13 chr7 101039191 101039191 + G G A Missense_Mutation SNP ENST00000306151.9 exon3 c.G7775A p.S2592N exonic ENSG00000169876.14 . nonsynonymous SNV ENSG00000169876.14:ENST00000306151.9:exon3:c.G7775A:p.S2592N 7q22.1 C3L-00814 8.255e-06 0 0 0 0 1.501e-05 0 0 rs763523521 0.18 T . B B . N L T N 0.027 T T T 0.011 0.138 0.014 . T T T T T T -0.293 0.322 0.222 N N -1.381 0.125 -1.501 0.107 0.000 0.487 0.590 0.547 0.564 . 0.673 -0.538 -2.029 -1.491 0.348 0.000 0.000 0.001 835 . . . ID=COSV60282270;OCCURENCE=2(lung) MUC17 70 0 73 11 0.130952380952381 NA TRUE +ENSG00000104419.16 . BCM GRCh38.p13 chr8 133238950 133238967 + GTGGGCCCCCTCGCTGGT GTGGGCCCCCTCGCTGGT - In_Frame_Del DEL ENST00000323851.13 exon16 c.1096_1113del p.T366_H371del exonic ENSG00000104419.16 . nonframeshift deletion ENSG00000104419.16:ENST00000323851.13:exon16:c.1096_1113del:p.T366_H371del 8q24.22 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDRG1 167 0 91 35 0.277777777777778 TRUE TRUE +ENSG00000261236.8 . BCM GRCh38.p13 chr8 144264826 144264826 + G G T Missense_Mutation SNP ENST00000569669.6 exon5 c.C551A p.T184N exonic ENSG00000261236.8 . nonsynonymous SNV ENSG00000261236.8:ENST00000569669.6:exon5:c.C551A:p.T184N 8q24.3 C3L-00814 . . . . . . . . . 7.15 D D . . D . . T D 0.404 T T D 0.159 . 0.388 . T T T T D . 2.861 23.100 0.976 D N -0.222 1.815 -0.330 1.504 0.000 0.693 0.659 0.659 0.564 . 3.260 2.370 4.600 1.160 0.658 1.000 0.654 0.019 946 BOP1,_N-terminal_domain . . . BOP1 806 0 501 207 0.292372881355932 TRUE TRUE +ENSG00000159921.17 . BCM GRCh38.p13 chr9 36229069 36229069 + T T A Missense_Mutation SNP ENST00000642385.2 exon6 c.A1022T p.D341V exonic ENSG00000159921.17 . nonsynonymous SNV ENSG00000159921.17:ENST00000642385.2:exon6:c.A1022T:p.D341V 9p13.3 C3L-00814 . . . . . . . . . 14.20 D T B B D D N D N 0.760 D D D 0.654 0.616 0.984 1.030 T D D D D D 3.464 24.600 0.990 D D 0.129 3.001 0.319 3.829 1.000 0.672 0.654 0.651 0.711 . 5.630 5.630 7.184 1.138 0.665 1.000 1.000 0.997 442 UDP-N-acetylglucosamine_2-epimerase_domain . . . GNE 453 0 487 31 0.0598455598455598 TRUE TRUE +ENSG00000198963.11 . BCM GRCh38.p13 chr9 74662537 74662537 + G G T Nonsense_Mutation SNP ENST00000396204.2 exon6 c.G856T p.E286X exonic ENSG00000198963.11 . stopgain ENSG00000198963.11:ENST00000396204.2:exon6:c.G856T:p.E286X 9q21.13 C3L-00814 . . . . . . . . . 5.6 . . . . D A . . . 0.914 . . . . . . . . . D D . . 8.396 42 0.998 D N 1.239 27.806 1.099 26.912 1.000 0.638 0.547 0.653 0.564 . 5.470 5.470 10.003 1.176 0.676 1.000 1.000 1.000 883 Nuclear_hormone_receptor,_ligand-binding_domain . . . RORB 254 0 239 17 0.06640625 TRUE TRUE +ENSG00000130635.16 . BCM GRCh38.p13 chr9 134731642 134731642 + C C A Missense_Mutation SNP ENST00000371817.8 exon8 c.C1311A p.N437K exonic ENSG00000130635.16 . nonsynonymous SNV ENSG00000130635.16:ENST00000371817.8:exon8:c.C1311A:p.N437K 9q34.3 C3L-00814 . . . . . . . . . 9.20 T T D D U D N D N 0.808 D D D 0.256 0.353 0.732 0.668 T T T T D T 2.621 22.700 0.968 D N 0.077 2.798 0.101 2.737 1.000 0.707 0.547 0.723 0.714 . 4.060 4.060 1.622 0.122 -0.242 1.000 0.927 0.639 886 . . . . COL5A1 132 0 113 8 0.0661157024793388 TRUE NA +ENSG00000174885.12 . BCM GRCh38.p13 chr11 280584 280584 + C C G Missense_Mutation SNP ENST00000312165.5 exon4 c.C850G p.L284V exonic ENSG00000174885.12 . nonsynonymous SNV ENSG00000174885.12:ENST00000312165.5:exon4:c.C850G:p.L284V 11p15.5 C3L-00814 . . . . . . . . . 7.19 D D P P N N . D D 0.167 T T D 0.365 0.596 0.088 . D T T T D T 1.987 19.160 0.991 N N -0.611 0.969 -0.846 0.695 1.000 0.598 0.596 0.479 0.639 . 3.530 -5.230 -0.008 0.952 0.504 0.002 0.904 0.636 889 NACHT_nucleoside_triphosphatase . . . NLRP6 42 0 29 15 0.340909090909091 TRUE TRUE +ENSG00000214756.8 . BCM GRCh38.p13 chr11 62666913 62666919 + TCAGTTC TCAGTTC - Frame_Shift_Del DEL ENST00000532971.2 exon3 c.585_591del p.F197Mfs*20 exonic ENSG00000214756.8 . frameshift deletion ENSG00000214756.8:ENST00000532971.2:exon3:c.585_591del:p.F197Mfs*20 11q12.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSKMT 302 0 174 49 0.219730941704036 TRUE TRUE +ENSG00000137747.16 . BCM GRCh38.p13 chr11 117913848 117913848 + C C - Frame_Shift_Del DEL ENST00000445164.6 exon5 c.738delG p.W246Cfs*44 exonic ENSG00000137747.16 . frameshift deletion ENSG00000137747.16:ENST00000445164.6:exon5:c.738delG:p.W246Cfs*44 11q23.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMPRSS13 178 0 134 42 0.238636363636364 TRUE TRUE +ENSG00000154127.10 . BCM GRCh38.p13 chr11 122796165 122796165 + G G T Missense_Mutation SNP ENST00000284273.6 exon8 c.G1123T p.V375F exonic ENSG00000154127.10 . nonsynonymous SNV ENSG00000154127.10:ENST00000284273.6:exon8:c.G1123T:p.V375F 11q24.1 C3L-00814 . . . . . . . . rs756250615 2.20 D D B B N N L T N 0.329 T T T 0.021 0.319 0.068 0.670 T T T T T T 1.657 16.740 0.989 N N -0.448 1.282 -0.308 1.547 0.997 0.713 0.704 0.780 0.692 . 5.540 2.600 1.036 1.176 0.676 0.734 0.995 0.908 867 . . . . UBASH3B 98 0 76 41 0.35042735042735 TRUE TRUE +ENSG00000166535.20 . BCM GRCh38.p13 chr12 8854209 8854209 + A A G Missense_Mutation SNP ENST00000299698.12 exon21 c.A2672G p.K891R exonic ENSG00000166535.20 . nonsynonymous SNV ENSG00000166535.20:ENST00000299698.12:exon21:c.A2672G:p.K891R 12p13.31 C3L-00814 . . . . . . . . . 0.20 T T B B N N N T N 0.096 T T T 0.022 0.362 0.088 0.086 T T T T T T 0.902 10.450 0.958 N N -1.114 0.294 -1.110 0.365 0.019 0.707 0.563 0.725 0.564 . 3.780 -0.579 0.418 0.324 0.691 0.077 0.040 0.377 715 . . . . A2ML1 79 0 70 4 0.0540540540540541 NA TRUE +ENSG00000139144.10 . BCM GRCh38.p13 chr12 18282106 18282106 + C C A Missense_Mutation SNP ENST00000433979.6 exon2 c.C25A p.P9T exonic ENSG00000139144.10 . nonsynonymous SNV ENSG00000139144.10:ENST00000433979.6:exon2:c.C25A:p.P9T 12p12.3 C3L-00814 . . . . . . . . . 1.20 T T B B N N L T D 0.177 T T T 0.037 0.325 0.543 0.013 T T T T T T 0.958 11.090 0.845 N N -0.876 0.550 -0.850 0.688 0.149 0.487 0.574 0.574 0.613 . 4.290 1.340 0.404 -0.272 -0.224 0.281 0.937 0.953 917 . . . . PIK3C2G 93 0 89 47 0.345588235294118 TRUE NA +ENSG00000120699.13 . BCM GRCh38.p13 chr13 37008803 37008803 + A A T Missense_Mutation SNP ENST00000389704.4 exon10 c.A683T p.E228V exonic ENSG00000120699.13 . nonsynonymous SNV ENSG00000120699.13:ENST00000389704.4:exon10:c.A683T:p.E228V 13q13.3 C3L-00814 . . . . . . . . . 11.20 D D B B D D L T D 0.627 T T D 0.274 0.522 0.429 0.353 T T D T D D 3.412 24.400 0.991 D D 0.434 4.564 0.515 5.295 1.000 0.707 0.725 0.702 0.711 . 5.740 5.740 7.061 1.312 0.756 1.000 0.999 0.997 782 Exoribonuclease,_phosphorolytic_domain_2 . . . EXOSC8 437 0 181 57 0.239495798319328 TRUE TRUE +ENSG00000184564.11 . BCM GRCh38.p13 chr13 85795091 85795091 + A A T Missense_Mutation SNP ENST00000647374.2 exon2 c.T1418A p.V473D exonic ENSG00000184564.11 . nonsynonymous SNV ENSG00000184564.11:ENST00000647374.2:exon2:c.T1418A:p.V473D 13q31.1 C3L-00814 . . . . . . . . . 5.20 D D B B U D N T N 0.385 T T T 0.116 0.450 0.830 0.088 T T T T T T 2.971 23.400 0.950 D D -0.046 2.351 0.096 2.718 0.235 0.487 0.574 0.547 0.564 . 5.860 3.510 4.066 0.315 0.756 1.000 1.000 0.998 973 . . . . SLITRK6 205 0 158 75 0.321888412017167 TRUE TRUE +ENSG00000140107.12 . BCM GRCh38.p13 chr14 100329462 100329462 + C C G Missense_Mutation SNP ENST00000361529.5 exon6 c.C744G p.D248E exonic ENSG00000140107.12 . nonsynonymous SNV ENSG00000140107.12:ENST00000361529.5:exon6:c.C744G:p.D248E 14q32.2 C3L-00814 . . . . . . . . . 13.20 D D D D D D L T D 0.701 T D D 0.480 0.512 0.247 0.835 T T D D D T 0.679 8.263 0.980 N D -0.912 0.505 -1.154 0.323 1.000 0.403 0.547 0.578 0.563 . 5.390 -5.360 -1.151 -2.012 -0.855 0.004 0.717 0.408 933 . . . . SLC25A47 208 0 139 48 0.25668449197861 TRUE TRUE +ENSG00000103671.10 . BCM GRCh38.p13 chr15 64425572 64425572 + T T C Missense_Mutation SNP ENST00000261884.8 exon11 c.T1516C p.C506R exonic ENSG00000103671.10 . nonsynonymous SNV ENSG00000103671.10:ENST00000261884.8:exon11:c.T1516C:p.C506R 15q22.31 C3L-00814 . . . . . . . . . 13.19 D D D D D D L . D 0.959 T T T 0.590 0.704 0.576 0.461 T T D D D D 4.148 28.200 0.995 D D 0.641 6.373 0.625 6.555 1.000 0.707 0.725 0.659 0.714 . 5.070 5.070 7.126 1.067 0.582 1.000 1.000 0.998 298 ASCH_domain . . . TRIP4 210 0 133 41 0.235632183908046 TRUE TRUE +ENSG00000103671.10 . BCM GRCh38.p13 chr15 64425575 64425575 + C C G Missense_Mutation SNP ENST00000261884.8 exon11 c.C1519G p.L507V exonic ENSG00000103671.10 . nonsynonymous SNV ENSG00000103671.10:ENST00000261884.8:exon11:c.C1519G:p.L507V 15q22.31 C3L-00814 . . . . . . . . . 13.19 D D D D D D M . D 0.821 T T T 0.632 0.619 0.329 0.117 T T D D D D 3.598 25.000 0.999 D N 0.628 6.223 0.594 6.146 1.000 0.707 0.725 0.659 0.714 . 5.070 5.070 3.415 0.963 0.526 1.000 1.000 0.997 298 ASCH_domain . . . TRIP4 206 1 135 39 0.224137931034483 TRUE TRUE +ENSG00000167968.13 . BCM GRCh38.p13 chr16 2238017 2238017 + A A C Missense_Mutation SNP ENST00000320700.10 exon6 c.A842C p.Q281P exonic ENSG00000167968.13 . nonsynonymous SNV ENSG00000167968.13:ENST00000320700.10:exon6:c.A842C:p.Q281P 16p13.3 C3L-00814 1.839e-05 0 0 0.0003 0 0 0 0 rs754740501 4.20 T T P B N N M T D 0.496 T T T 0.200 0.554 0.384 0.574 T D T T D T 2.248 21.200 0.951 N N -0.088 2.214 -0.166 1.870 1.000 0.583 0.759 0.504 0.621 . 4.450 3.320 0.346 1.192 0.731 0.049 0.868 0.231 549 Endonuclease/exonuclease/phosphatase . . . DNASE1L2 117 0 161 56 0.258064516129032 TRUE TRUE +ENSG00000158486.13 . BCM GRCh38.p13 chr16 20964583 20964583 + G G T Missense_Mutation SNP ENST00000261383.3 exon53 c.C9301A p.L3101M exonic ENSG00000158486.13 . nonsynonymous SNV ENSG00000158486.13:ENST00000261383.3:exon53:c.C9301A:p.L3101M 16p12.3 C3L-00814 . . . . . . . . . 10.19 D . D D D D M T N 0.638 T T T 0.356 0.693 0.320 0.481 T T T T D D 3.726 25.500 0.993 D D 0.738 7.690 0.645 6.837 1.000 0.487 0.547 0.547 0.564 . 5.960 5.960 8.092 1.176 0.676 1.000 0.946 0.952 318 Dynein_heavy_chain,_ATP-binding_dynein_motor_region_D5 . . . DNAH3 315 0 355 85 0.193181818181818 TRUE TRUE +ENSG00000135723.14 . BCM GRCh38.p13 chr16 67237258 67237258 + G G A Missense_Mutation SNP ENST00000258201.9 exon9 c.C974T p.T325M exonic ENSG00000135723.14 . nonsynonymous SNV ENSG00000135723.14:ENST00000258201.9:exon9:c.C974T:p.T325M 16q22.1 C3L-00814 . . . . . . . . . 6.20 D D P B N N M T N 0.432 T T D 0.201 0.297 0.820 1.142 T T T T D D 2.548 22.500 0.992 N N -0.109 2.147 -0.108 2.024 1.000 0.742 0.702 0.775 0.714 . 5.660 4.650 2.275 1.089 0.577 0.046 0.915 0.960 25 Rho_GTPase-binding/formin_homology_3_(GBD/FH3)_domain . . ID=COSV50759762;OCCURENCE=3(large_intestine) FHOD1 164 0 171 9 0.05 TRUE NA +ENSG00000140835.9 . BCM GRCh38.p13 chr16 71537760 71537760 + C C G Missense_Mutation SNP ENST00000338482.5 exon3 c.C1083G p.H361Q exonic ENSG00000140835.9 . nonsynonymous SNV ENSG00000140835.9:ENST00000338482.5:exon3:c.C1083G:p.H361Q 16q22.2 C3L-00814 . . . . . . . . . 2.20 T T B B N N N D N 0.042 T T D 0.313 0.089 0.461 0.191 T T T T T T -1.375 0.001 0.726 N N -1.961 0.011 -2.030 0.012 1.000 0.632 0.704 0.780 0.692 . 5.970 -11.900 -4.765 -5.119 -0.814 0.000 0.000 0.164 222 . . . . CHST4 191 0 232 54 0.188811188811189 TRUE TRUE +ENSG00000262664.3 . BCM GRCh38.p13 chr17 2042713 2042713 + C C T Missense_Mutation SNP ENST00000572195.3 exon2 c.C293T p.S98L exonic ENSG00000262664.3 . nonsynonymous SNV ENSG00000262664.3:ENST00000572195.3:exon2:c.C293T:p.S98L 17p13.3 C3L-00814 . . . . . . . . . 6.16 . D B B U D . . . 0.382 T T D 0.503 0.698 0.484 0.070 T T T T D T 3.080 23.600 0.998 D D 0.299 3.775 0.345 3.992 1.000 0.789 0.522 0.768 0.562 . 5.440 5.440 4.755 0.947 0.549 1.000 0.971 0.598 340 Serine_hydrolase_FSH . . . OVCA2 25 0 35 4 0.102564102564103 TRUE NA +ENSG00000166484.20 . BCM GRCh38.p13 chr17 19381269 19381269 + G G A Missense_Mutation SNP ENST00000395604.8 exon4 c.G1060A p.D354N exonic ENSG00000166484.20 . nonsynonymous SNV ENSG00000166484.20:ENST00000395604.8:exon4:c.G1060A:p.D354N 17p11.2 C3L-00814 . . . . . . . . . 7.20 T T P B D D L T N 0.245 T T T 0.103 0.300 0.554 0.407 D T T T D D 2.310 21.600 0.998 D D 0.037 2.647 0.197 3.170 1.000 0.722 0.702 0.699 0.714 . 5.040 5.040 1.799 1.176 0.676 0.393 1.000 0.995 725 . . . . MAPK7 235 4 136 56 0.291666666666667 TRUE TRUE +ENSG00000196712.18 . BCM GRCh38.p13 chr17 31327720 31327720 + C C - Frame_Shift_Del DEL ENST00000358273.9 exon38 c.5490delC p.W1831Gfs*32 exonic ENSG00000196712.18 . frameshift deletion ENSG00000196712.18:ENST00000358273.9:exon38:c.5490delC:p.W1831Gfs*32 17q11.2 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NF1 130 0 87 45 0.340909090909091 TRUE TRUE +ENSG00000277399.5 . BCM GRCh38.p13 chr17 38327079 38327079 + C C T Missense_Mutation SNP ENST00000616987.5 exon11 c.G6490A p.G2164R exonic ENSG00000277399.5 . nonsynonymous SNV ENSG00000277399.5:ENST00000616987.5:exon11:c.G6490A:p.G2164R 17q12 C3L-00814 . . . . . . . . . 1.13 . D . . N N . . . 0.090 T T T 0.023 0.187 0.048 . T . T T T T 0.116 2.233 0.336 N N -1.163 0.254 -1.212 0.273 1.000 0.560 0.624 0.537 0.632 . 3.960 -0.449 -0.278 0.877 0.549 0.000 0.002 0.003 121 . . . . GPR179 391 0 248 94 0.274853801169591 TRUE TRUE +ENSG00000183034.13 . BCM GRCh38.p13 chr17 74930593 74930594 + CG CG - Frame_Shift_Del DEL ENST00000331427.9 exon6 c.958_959del p.R320Hfs*33 exonic ENSG00000183034.13 . frameshift deletion ENSG00000183034.13:ENST00000331427.9:exon6:c.958_959del:p.R320Hfs*33 17q25.1 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OTOP2 190 0 107 59 0.355421686746988 TRUE TRUE +ENSG00000186919.13 . BCM GRCh38.p13 chr17 76081620 76081620 + G G A Missense_Mutation SNP ENST00000334586.10 exon7 c.G745A p.V249M exonic ENSG00000186919.13 . nonsynonymous SNV ENSG00000186919.13:ENST00000334586.10:exon7:c.G745A:p.V249M 17q25.1 C3L-00814 8.247e-06 0 0 0 0 1.501e-05 0 0 rs566441531 1.20 T T B B N N N D N 0.118 T T T 0.144 0.431 0.178 0.078 T T T T T T 0.026 1.504 0.940 N N -1.022 0.381 -1.035 0.447 1.000 0.840 0.644 0.737 0.646 . 4.830 -1.430 -1.070 -0.135 -0.111 0.000 0.066 0.070 675 . . . . ZACN 273 0 211 87 0.291946308724832 TRUE NA +ENSG00000099866.15 . BCM GRCh38.p13 chr19 498043 498043 + C C A Missense_Mutation SNP ENST00000215637.8 exon2 c.C263A p.A88E exonic ENSG00000099866.15 . nonsynonymous SNV ENSG00000099866.15:ENST00000215637.8:exon2:c.C263A:p.A88E 19p13.3 C3L-00814 . . . . . . . . . 1.20 T T P B N N L T N 0.153 T T D 0.030 0.371 0.273 0.304 T T T T T T 0.945 10.930 0.958 N N -0.709 0.798 -0.850 0.689 0.998 0.652 0.627 0.641 0.639 . 3.950 -0.851 -0.814 0.021 0.503 0.000 0.001 0.244 988 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . MADCAM1 40 0 55 3 0.0517241379310345 TRUE TRUE +ENSG00000130803.15 . BCM GRCh38.p13 chr19 9161237 9161237 + A A G Missense_Mutation SNP ENST00000247956.11 exon7 c.A1592G p.E531G exonic ENSG00000130803.15 . nonsynonymous SNV ENSG00000130803.15:ENST00000247956.11:exon7:c.A1592G:p.E531G 19p13.2 C3L-00814 . . . . . . . . . 7.20 D D D D D N L T D 0.192 T T T 0.040 0.429 0.471 1.064 T T T T D T 3.294 24.100 0.999 N N -0.251 1.737 -0.300 1.564 0.003 0.707 0.702 0.698 0.714 . 2.720 2.720 -0.059 0.944 0.684 0.000 0.926 0.947 976 Zinc_finger_C2H2-type . . ID=COSV56111625;OCCURENCE=1(large_intestine) ZNF317 212 0 152 66 0.302752293577982 TRUE TRUE +ENSG00000171804.11 . BCM GRCh38.p13 chr19 37889856 37889856 + C C T Missense_Mutation SNP ENST00000447313.7 exon6 c.G3815A p.R1272K exonic ENSG00000171804.11 . nonsynonymous SNV ENSG00000171804.11:ENST00000447313.7:exon6:c.G3815A:p.R1272K 19q13.13 C3L-00814 . . . . . . . . . 0.18 T T B B N N . T N 0.077 T T T 0.009 0.213 0.014 . T . T T T T -0.419 0.176 0.541 N N -1.592 0.057 -1.619 0.070 0.420 0.497 0.590 0.547 0.542 . 4.040 -3.760 -0.286 -1.095 -0.214 0.000 0.000 0.001 646 . . . . WDR87 139 0 140 59 0.296482412060302 TRUE TRUE +ENSG00000215305.10 . BCM GRCh38.p13 chr20 2861034 2861034 + G G A Missense_Mutation SNP ENST00000380445.8 exon7 c.G695A p.R232Q exonic ENSG00000215305.10 . nonsynonymous SNV ENSG00000215305.10:ENST00000380445.8:exon7:c.G695A:p.R232Q 20p13 C3L-00814 1.648e-05 0 0 0 0 2.998e-05 0 0 rs756043022 8.20 D D D P D D L T N 0.492 T T T 0.224 . 0.739 0.746 T T T T D D 3.508 24.700 0.999 D N 0.276 3.656 0.354 4.045 0.513 0.707 0.725 0.805 0.714 . 5.820 4.870 5.664 1.176 0.618 1.000 0.991 0.998 475 Vps16,_N-terminal . . ID=COSV66794735;OCCURENCE=1(large_intestine) VPS16 320 0 217 77 0.261904761904762 TRUE TRUE +ENSG00000185513.16 . BCM GRCh38.p13 chr20 43534350 43534350 + A A G Missense_Mutation SNP ENST00000427442.8 exon15 c.A1600G p.I534V exonic ENSG00000185513.16;ENSG00000288000.1 . nonsynonymous SNV ENSG00000185513.16:ENST00000427442.8:exon15:c.A1600G:p.I534V 20q13.12 C3L-00814 8.279e-06 0 0 0 0 0 0 6.056e-05 rs772712126 5.20 T T B B D D L T N 0.248 T T T 0.127 0.661 0.141 0.164 T T T T T D 2.665 22.800 0.996 D D 0.367 4.143 0.452 4.748 1.000 0.706 0.634 0.710 0.568 . 5.390 5.390 5.125 1.312 0.756 1.000 0.994 0.996 650 . . . . L3MBTL1 177 0 133 29 0.179012345679012 TRUE NA +ENSG00000137992.14 . BCM GRCh38.p13 chr1 100215982 100215982 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000137992.14 ENST00000370132.8:exon6:c.772+1G>T . . 1p21.2 C3L-00814 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.488 34 0.996 D . 1.202 23.870 1.064 23.516 1.000 0.164 0.157 0.121 0.099 0.984 5.660 5.660 7.178 1.026 0.599 1.000 0.972 0.918 527 . . . . DBT 359 2 296 88 0.229166666666667 TRUE TRUE +ENSG00000158050.5 . BCM GRCh38.p13 chr2 96144847 96144847 + G G A Silent SNP ENST00000288943.5 exon2 c.C424T p.L142L exonic ENSG00000158050.5 . synonymous SNV ENSG00000158050.5:ENST00000288943.5:exon2:c.C424T:p.L142L 2q11.2 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP2 115 0 100 6 0.0566037735849057 NA TRUE +ENSG00000176771.17 . BCM GRCh38.p13 chr2 132785278 132785278 + C C A Silent SNP ENST00000409261.6 exon14 c.G1533T p.L511L exonic ENSG00000176771.17 . synonymous SNV ENSG00000176771.17:ENST00000409261.6:exon14:c.G1533T:p.L511L 2q21.2 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58474751;OCCURENCE=1(large_intestine) NCKAP5 53 0 43 3 0.0652173913043478 TRUE NA +ENSG00000144550.13 . BCM GRCh38.p13 chr3 9718564 9718564 + G G A Silent SNP ENST00000383832.8 exon17 c.G1203A p.G401G exonic ENSG00000144550.13 . synonymous SNV ENSG00000144550.13:ENST00000383832.8:exon17:c.G1203A:p.G401G 3p25.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPNE9 138 0 83 13 0.135416666666667 TRUE TRUE +ENSG00000174844.14 . BCM GRCh38.p13 chr3 57457727 57457727 + G G A Silent SNP ENST00000351747.6 exon22 c.C3261T p.A1087A exonic ENSG00000174844.14 . synonymous SNV ENSG00000174844.14:ENST00000351747.6:exon22:c.C3261T:p.A1087A 3p14.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH12 117 1 65 8 0.10958904109589 TRUE TRUE +ENSG00000181965.6 . BCM GRCh38.p13 chr5 135535010 135535010 + G G A Silent SNP ENST00000314744.6 exon1 c.C681T p.L227L exonic ENSG00000181965.6 . synonymous SNV ENSG00000181965.6:ENST00000314744.6:exon1:c.C681T:p.L227L 5q31.1 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59083088;OCCURENCE=1(NS) NEUROG1 203 0 112 51 0.312883435582822 TRUE TRUE +ENSG00000168477.19 . BCM GRCh38.p13 chr6 32084687 32084687 + C C A Silent SNP ENST00000644971.2 exon8 c.G3171T p.G1057G exonic ENSG00000168477.19 . synonymous SNV ENSG00000168477.19:ENST00000644971.2:exon8:c.G3171T:p.G1057G 6p21.33 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNXB 85 0 47 3 0.06 NA TRUE +ENSG00000123453.18 . BCM GRCh38.p13 chr9 133666831 133666831 + G G A Silent SNP ENST00000439388.6 exon20 c.C2535T p.N845N exonic ENSG00000123453.18 . synonymous SNV ENSG00000123453.18:ENST00000439388.6:exon20:c.C2535T:p.N845N 9q34.2 C3L-00814 0.0008 0 0.0023 0.0033 0.0006 0.0006 0 0 rs146458678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64100823;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) SARDH 397 0 381 24 0.0592592592592593 TRUE TRUE +ENSG00000110148.10 . BCM GRCh38.p13 chr11 6259934 6259934 + G G A Silent SNP ENST00000334619.7 exon1 c.G6A p.E2E exonic ENSG00000110148.10 . synonymous SNV ENSG00000110148.10:ENST00000334619.7:exon1:c.G6A:p.E2E 11p15.4 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCKBR 71 0 27 3 0.1 TRUE TRUE +ENSG00000139970.17 . BCM GRCh38.p13 chr14 59727091 59727091 + C C T Silent SNP ENST00000267484.10 exon3 c.G1593A p.Q531Q exonic ENSG00000139970.17 . synonymous SNV ENSG00000139970.17:ENST00000267484.10:exon3:c.G1593A:p.Q531Q 14q23.1 C3L-00814 2.295e-05 0 0 0.0003 0 0 0 0 rs746269097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RTN1 277 0 166 67 0.28755364806867 TRUE NA +ENSG00000197050.11 . BCM GRCh38.p13 chr19 37128788 37128788 + C C T Silent SNP ENST00000337995.4 exon5 c.C1797T p.G599G exonic ENSG00000197050.11 . synonymous SNV ENSG00000197050.11:ENST00000337995.4:exon5:c.C1797T:p.G599G 19q13.12 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF420 184 0 160 77 0.324894514767932 TRUE TRUE +ENSG00000159263.16 . BCM GRCh38.p13 chr21 36731151 36731151 + C C T Silent SNP ENST00000290399.11 exon7 c.C850T p.L284L exonic ENSG00000159263.16 . synonymous SNV ENSG00000159263.16:ENST00000290399.11:exon7:c.C850T:p.L284L 21q22.13 C3L-00814 0.0003 0.0035 0 0 0 0 0 0.0001 rs139841287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIM2 96 0 93 9 0.0882352941176471 TRUE NA +ENSG00000147255.19 . BCM GRCh38.p13 chrX 131282493 131282493 + C C T Silent SNP ENST00000361420.8 exon7 c.G1197A p.K399K exonic ENSG00000147255.19 . synonymous SNV ENSG00000147255.19:ENST00000361420.8:exon7:c.G1197A:p.K399K Xq26.1 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF1 97 0 79 12 0.131868131868132 TRUE TRUE +ENSG00000152147.11 . BCM GRCh38.p13 chr2 38779257 38779257 + G G C Intron SNP NA NA NA NA intronic ENSG00000152147.11 . . . 2p22.1 C3L-00814 . . . . . . . . . 0.4 . . . . . N . . . . . . . . . . . . . T T . . 0.465 6.130 0.650 N . -0.760 0.715 -1.006 0.482 0.996 0.073 0.088 0.102 0.058 0.046 0.690 -0.309 -0.204 -0.081 0.504 0.001 0.002 0.265 703 . . . . GEMIN6 62 1 48 11 0.186440677966102 TRUE TRUE +ENSG00000144395.18 . BCM GRCh38.p13 chr2 196713651 196713651 + G G A Intron SNP NA NA NA NA intronic ENSG00000144395.18 . . . 2q33.1 C3L-00814 . . . . . . . . . 0.14 T T . . . N . . N 0.070 T T T 0.027 0.196 0.030 . . T T T T T 0.008 1.385 0.912 N N -0.931 0.482 -1.072 0.405 0.002 0.476 0.602 0.547 0.564 . 4.820 -0.142 0.153 -0.207 -0.759 0.001 0.002 0.001 254 . . . . CCDC150 44 0 32 15 0.319148936170213 TRUE NA +ENSG00000218416.4 . BCM GRCh38.p13 chr2 240452934 240452934 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000218416.4 . . . 2q37.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC110619.1 96 0 39 18 0.315789473684211 TRUE NA +ENSG00000132153.15 . BCM GRCh38.p13 chr3 47825077 47825077 + G G A Intron SNP NA NA NA NA intronic ENSG00000132153.15 . . . 3p21.31 C3L-00814 . . . . . . . . . 4.14 D D . . . D . T N 0.271 T T D 0.134 0.178 0.359 . . . T T T T 1.816 17.850 0.996 N N -0.085 2.221 -0.115 2.005 1.000 0.442 0.522 0.522 0.562 . 4.220 3.300 1.192 1.047 0.590 0.993 0.960 0.806 9 . . . . DHX30 127 0 38 32 0.457142857142857 TRUE TRUE +ENSG00000106477.19 . BCM GRCh38.p13 chr7 130397721 130397721 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000106477.19 ENST00000223208.10:c.*1170G>A . . 7q32.2 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEP41 101 1 80 27 0.252336448598131 TRUE NA +ENSG00000065357.20 . BCM GRCh38.p13 chr12 55940730 55940730 + C C A Intron SNP NA NA NA NA intronic ENSG00000065357.20 . . . 12q13.2 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGKA 118 0 46 22 0.323529411764706 TRUE NA +ENSG00000123329.20 . BCM GRCh38.p13 chr12 57480778 57480778 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000123329.20 ENST00000393797.7:c.-1372G>C . . 12q13.3 C3L-00814 . . . . . . . . . 3.15 D D . . . N . T N 0.147 T T T 0.057 0.146 0.337 . . T T T D T 3.106 23.600 0.975 N N -0.457 1.263 -0.565 1.099 1.000 0.601 0.597 0.602 0.616 . 2.030 2.030 2.225 0.877 0.549 0.369 0.013 0.042 339 . . . . ARHGAP9 234 0 150 69 0.315068493150685 TRUE TRUE +ENSG00000182376.2 . BCM GRCh38.p13 chr16 88743160 88743160 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000182376.2 . . . 16q24.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC138028.1 59 0 83 13 0.135416666666667 TRUE NA +ENSG00000170100.13 . BCM GRCh38.p13 chr16 89234061 89234061 + A A C 3'UTR SNP NA NA NA NA UTR3 ENSG00000170100.13 ENST00000620195.4:c.*5499A>C . . 16q24.3 C3L-00814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF778 140 0 109 35 0.243055555555556 TRUE NA +ENSG00000198793.13 . BCM GRCh38.p13 chr1 11150140 11150140 + G G A Missense_Mutation SNP ENST00000361445.9 exon31 c.C4556T p.A1519V exonic ENSG00000198793.13 . nonsynonymous SNV ENSG00000198793.13:ENST00000361445.9:exon31:c.C4556T:p.A1519V 1p36.22 C3L-00817 . . . . . . . . . 19.20 D D D D D D M T D 0.756 D D D 0.772 0.845 0.894 1.844 D D D D D D 4.502 32 0.999 D D 0.964 12.817 0.901 13.812 1.000 0.707 0.725 0.725 0.714 . 5.160 5.160 9.428 1.176 0.676 1.000 0.998 0.996 334 PIK-related_kinase;PIK-related_kinase,_FAT . . . MTOR 123 1 102 42 0.291666666666667 TRUE TRUE +ENSG00000156875.14 . BCM GRCh38.p13 chr1 100068482 100068482 + A A C Missense_Mutation SNP ENST00000370152.8 exon7 c.A715C p.K239Q exonic ENSG00000156875.14;ENSG00000283761.1 . nonsynonymous SNV ENSG00000156875.14:ENST00000370152.8:exon7:c.A715C:p.K239Q,ENSG00000283761.1:ENST00000639037.1:exon12:c.A1384C:p.K462Q 1p21.2 C3L-00817 . . . . . . . . . 10.19 T T P B D D . T N 0.801 T T D 0.482 0.447 0.231 2.075 D T D D D D 3.670 25.300 0.990 D D 0.360 4.104 0.499 5.146 1.000 0.707 0.725 0.725 0.714 . 5.930 5.930 9.325 1.312 0.756 1.000 1.000 0.998 827 Major_facilitator_superfamily_domain . . . MFSD14A 135 0 116 15 0.114503816793893 TRUE TRUE +ENSG00000158864.12 . BCM GRCh38.p13 chr1 161206536 161206536 + C C G Missense_Mutation SNP ENST00000367993.7 exon4 c.C332G p.P111R exonic ENSG00000158864.12 . nonsynonymous SNV ENSG00000158864.12:ENST00000367993.7:exon4:c.C332G:p.P111R 1q23.3 C3L-00817 . . . . . . . . . 19.20 D D D D D D H D D 0.953 D D D 0.880 0.749 0.925 1.449 T D D D D D 3.864 26.200 0.999 D D 0.997 13.827 0.952 16.173 1.000 0.722 0.725 0.702 0.735 . 6.030 6.030 6.983 1.026 0.599 1.000 1.000 0.997 471 . . . . NDUFS2 266 0 206 56 0.213740458015267 TRUE TRUE +ENSG00000087338.5 . BCM GRCh38.p13 chr2 69849712 69849712 + A A T Missense_Mutation SNP ENST00000282570.4 exon8 c.A904T p.T302S exonic ENSG00000087338.5 . nonsynonymous SNV ENSG00000087338.5:ENST00000282570.4:exon8:c.A904T:p.T302S 2p13.3 C3L-00817 . . . . . . . . . 4.19 T T B B D N . T N 0.332 T T T 0.128 0.660 0.597 0.355 T T T T D T 2.381 22.000 0.983 D D -0.084 2.226 0.103 2.747 0.575 0.651 0.709 0.609 0.684 . 5.560 4.430 5.984 0.323 0.756 1.000 0.998 0.983 579 . . . . GMCL1 147 0 113 20 0.150375939849624 TRUE TRUE +ENSG00000187605.15 . BCM GRCh38.p13 chr2 74048073 74048073 + G G A Missense_Mutation SNP ENST00000409262.7 exon3 c.G2156A p.G719E exonic ENSG00000187605.15 . nonsynonymous SNV ENSG00000187605.15:ENST00000409262.7:exon3:c.G2156A:p.G719E 2p13.1 C3L-00817 . . . . . . . . . 5.15 D D . . . D . T N 0.748 T T T 0.144 . 0.043 0.736 T . T T D T 3.260 24.000 0.998 D N 0.511 5.123 0.552 5.670 1.000 0.672 0.702 0.567 0.636 . 5.380 5.380 3.170 1.176 0.676 1.000 1.000 0.997 559 . . . . TET3 73 0 53 14 0.208955223880597 TRUE TRUE +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167250853 167250853 + C C T Missense_Mutation SNP ENST00000628543.2 exon7 c.C8936T p.P2979L exonic ENSG00000163092.21 . nonsynonymous SNV ENSG00000163092.21:ENST00000628543.2:exon7:c.C8936T:p.P2979L 2q24.3 C3L-00817 . . . . . . . . . 2.20 T T B B N D L T D 0.158 T T T 0.051 0.196 0.076 0.021 T T T T T T 0.877 10.190 0.289 N N -0.812 0.638 -0.761 0.813 0.989 0.487 0.574 0.574 0.564 . 5.350 3.510 3.297 1.026 0.599 0.049 0.004 0.016 593 . . . . XIRP2 247 0 214 45 0.173745173745174 TRUE TRUE +ENSG00000073734.10 . BCM GRCh38.p13 chr2 168927295 168927295 + G G T Missense_Mutation SNP ENST00000650372.1 exon26 c.C3479A p.S1160Y exonic ENSG00000073734.10 . nonsynonymous SNV ENSG00000073734.10:ENST00000650372.1:exon26:c.C3479A:p.S1160Y 2q31.1 C3L-00817 . . . . . . . . . 18.20 D D D D D D L D D 0.944 D D D 0.923 0.721 0.968 0.718 T D D D D D 4.349 30 0.995 D D 0.832 9.447 0.848 11.683 1.000 0.516 0.590 0.574 0.586 . 5.720 5.720 9.968 1.176 0.676 1.000 0.995 0.994 731 ABC_transporter-like;AAA+_ATPase_domain . . . ABCB11 236 0 256 53 0.171521035598705 TRUE TRUE +ENSG00000064933.18 . BCM GRCh38.p13 chr2 189855035 189855035 + A A C Missense_Mutation SNP ENST00000441310.7 exon9 c.A1763C p.Q588P exonic ENSG00000064933.18 . nonsynonymous SNV ENSG00000064933.18:ENST00000441310.7:exon9:c.A1763C:p.Q588P 2q32.2 C3L-00817 . . . . . . . . . 13.20 D T P P N D M D N 0.439 D D D 0.631 0.592 0.993 0.074 T D D D T D 3.172 23.800 0.988 D D 0.162 3.137 0.149 2.943 1.000 0.732 0.744 0.710 0.714 . 5.100 2.650 1.904 1.209 0.567 1.000 0.997 0.996 508 High_mobility_group_box_domain . . . PMS1 203 0 238 59 0.198653198653199 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142080 10142080 + - NA T Frame_Shift_Ins NA ENST00000256474.3 exon1 c.234dupT p.R79Sfs*53 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon1:c.234dupT:p.R79Sfs*53 3p25.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000144746.7 . BCM GRCh38.p13 chr3 69104481 69104481 + T T C Missense_Mutation SNP ENST00000273258.4 exon3 c.T412C p.S138P exonic ENSG00000144746.7 . nonsynonymous SNV ENSG00000144746.7:ENST00000273258.4:exon3:c.T412C:p.S138P 3p14.1 C3L-00817 . . . . . . . . . 18.20 D D D D D D M T D 0.949 D D D 0.839 0.831 0.962 0.811 T D D D D D 4.073 27.500 0.998 D D 0.701 7.134 0.587 6.060 1.000 0.722 0.698 0.710 0.735 . 5.920 5.920 5.709 1.109 0.665 1.000 0.316 0.880 333 . . . . ARL6IP5 64 0 52 12 0.1875 TRUE TRUE +ENSG00000114520.11 . BCM GRCh38.p13 chr3 125460800 125460800 + T T - Frame_Shift_Del DEL ENST00000251775.9 exon10 c.915delA p.E306Sfs*30 exonic ENSG00000114520.11 . frameshift deletion ENSG00000114520.11:ENST00000251775.9:exon10:c.915delA:p.E306Sfs*30 3q21.2 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX4 64 0 48 15 0.238095238095238 TRUE TRUE +ENSG00000047662.5 . BCM GRCh38.p13 chr4 17709466 17709466 + G G A Missense_Mutation SNP ENST00000265018.4 exon2 c.C320T p.A107V exonic ENSG00000047662.5 . nonsynonymous SNV ENSG00000047662.5:ENST00000265018.4:exon2:c.C320T:p.A107V 4p15.31 C3L-00817 . . . . . . . . . 12.20 D T D P D D M T D 0.208 D D D 0.297 0.060 0.292 . T T T T D T 3.748 25.600 0.999 D D 0.542 5.380 0.522 5.361 1.000 0.554 0.588 0.573 0.564 . 4.500 4.500 4.638 1.176 0.676 0.994 0.999 0.994 790 Protein_FAM184A/B,_N-terminal . . . FAM184B 62 0 40 11 0.215686274509804 TRUE TRUE +ENSG00000113100.10 . BCM GRCh38.p13 chr5 26915672 26915672 + T T C Missense_Mutation SNP ENST00000231021.9 exon3 c.A481G p.K161E exonic ENSG00000113100.10 . nonsynonymous SNV ENSG00000113100.10:ENST00000231021.9:exon3:c.A481G:p.K161E 5p14.1 C3L-00817 . . . . . . . . rs751835931 5.20 T T B B D D L T N 0.375 T T T 0.270 0.393 0.780 0.595 T T T T D T 2.359 21.900 0.988 D D -0.293 1.630 -0.094 2.065 0.360 0.554 0.574 0.618 0.564 . 4.620 3.350 3.407 1.051 0.587 1.000 1.000 0.999 822 Cadherin-like . . . CDH9 158 0 154 38 0.197916666666667 TRUE NA +ENSG00000113407.13 . BCM GRCh38.p13 chr5 33466973 33466973 + A A T Missense_Mutation SNP ENST00000265112.7 exon18 c.A2011T p.N671Y exonic ENSG00000113407.13 . nonsynonymous SNV ENSG00000113407.13:ENST00000265112.7:exon18:c.A2011T:p.N671Y 5p13.3 C3L-00817 . . . . . . . . . 19.20 D D D D D D H D D 0.976 D D D 0.914 0.697 0.945 0.852 D T D D D D 4.342 29.900 0.995 D D 1.045 15.383 0.957 16.411 1.000 0.707 0.725 0.702 0.714 . 5.620 5.620 9.268 1.308 0.756 1.000 1.000 0.998 733 Anticodon-binding . . . TARS1 104 0 83 26 0.238532110091743 TRUE TRUE +ENSG00000145649.8 . BCM GRCh38.p13 chr5 55107883 55107883 + C C G Missense_Mutation SNP ENST00000274306.7 exon3 c.C305G p.P102R exonic ENSG00000145649.8 . nonsynonymous SNV ENSG00000145649.8:ENST00000274306.7:exon3:c.C305G:p.P102R 5q11.2 C3L-00817 . . . . . . . . . 3.20 D T P B N N N T D 0.199 T T T 0.068 0.560 0.412 0.064 T D T T T T 0.164 2.727 0.906 N N -0.958 0.451 -1.016 0.470 0.002 0.554 0.574 0.574 0.568 . 6.030 0.916 -0.559 0.110 -0.217 0.000 0.168 0.015 467 Serine_proteases,_trypsin_domain . . . GZMA 162 0 148 17 0.103030303030303 TRUE TRUE +ENSG00000205279.8 . BCM GRCh38.p13 chr5 127657621 127657621 + G G T Missense_Mutation SNP ENST00000379445.7 exon3 c.G100T p.V34L exonic ENSG00000205279.8 . nonsynonymous SNV ENSG00000205279.8:ENST00000379445.7:exon3:c.G100T:p.V34L 5q23.2 C3L-00817 . . . . . . . . . 14.19 D D D D D D . T D 0.837 T T D 0.336 0.371 0.620 0.762 T T D D D D 3.319 24.200 0.998 D D 0.788 8.544 0.767 9.211 1.000 0.487 0.574 0.547 0.542 . 4.520 4.520 9.588 1.176 0.676 1.000 1.000 0.985 437 . . . . CTXN3 402 3 366 72 0.164383561643836 TRUE TRUE +ENSG00000224586.7 . BCM GRCh38.p13 chr6 28534154 28534154 + T T A Missense_Mutation SNP ENST00000412168.7 exon5 c.T653A p.F218Y exonic ENSG00000224586.7 . nonsynonymous SNV ENSG00000224586.7:ENST00000412168.7:exon5:c.T653A:p.F218Y 6p22.1 C3L-00817 . . . . . . . . . 1.19 T T B B N N M T N 0.187 T T T 0.020 0.314 0.187 0.176 T T T T T . 0.633 7.827 0.949 N N -0.784 0.678 -0.824 0.724 0.367 0.497 0.590 0.573 0.542 . 4.520 0.739 -0.222 0.205 0.665 0.000 0.551 0.929 675 . . . . GPX5 41 0 40 7 0.148936170212766 TRUE TRUE +ENSG00000065833.9 . BCM GRCh38.p13 chr6 83223909 83223909 + T T G Missense_Mutation SNP ENST00000369705.4 exon12 c.A1300C p.S434R exonic ENSG00000065833.9 . nonsynonymous SNV ENSG00000065833.9:ENST00000369705.4:exon12:c.A1300C:p.S434R 6q14.2 C3L-00817 . . . . . . . . . 15.20 D D D D D D H T D 0.937 T T D 0.735 0.941 0.876 0.303 T T D D D D 4.089 27.700 0.998 D D 0.880 10.539 0.848 11.706 1.000 0.706 0.654 0.659 0.613 . 5.800 5.800 7.991 1.126 0.665 1.000 1.000 0.997 739 Malic_enzyme,_NAD-binding . . . ME1 109 1 113 24 0.175182481751825 TRUE TRUE +ENSG00000152894.14 . BCM GRCh38.p13 chr6 128184689 128184689 + C C T Missense_Mutation SNP ENST00000368215.7 exon7 c.G905A p.G302D exonic ENSG00000152894.14 . nonsynonymous SNV ENSG00000152894.14:ENST00000368215.7:exon7:c.G905A:p.G302D 6q22.33 C3L-00817 . . . . . . . . rs982597185 9.19 T T D P D D N T N 0.771 T T T 0.250 0.571 0.529 1.477 D T D D D . 2.982 23.400 0.998 D D 0.158 3.124 0.301 3.723 1.000 0.719 0.574 0.659 0.734 . 5.640 5.640 4.950 1.026 0.599 1.000 0.996 0.994 760 Fibronectin_type_III . . . PTPRK 143 2 128 37 0.224242424242424 TRUE NA +ENSG00000182095.14 . BCM GRCh38.p13 chr7 5359542 5359542 + T T - Frame_Shift_Del DEL ENST00000430969.5 exon15 c.4689delA p.D1564Mfs*9 exonic ENSG00000182095.14 . frameshift deletion ENSG00000182095.14:ENST00000430969.5:exon15:c.4689delA:p.D1564Mfs*9 7p22.1 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNRC18 349 0 182 41 0.183856502242152 TRUE TRUE +ENSG00000008256.16 . BCM GRCh38.p13 chr7 6173717 6173717 + T T C Missense_Mutation SNP ENST00000396741.3 exon6 c.A385G p.K129E exonic ENSG00000008256.16 . nonsynonymous SNV ENSG00000008256.16:ENST00000396741.3:exon6:c.A385G:p.K129E 7p22.1 C3L-00817 . . . . . . . . . 5.20 T T B B D D N T N 0.529 T T T 0.231 0.387 0.624 0.088 D T T T T T 2.487 22.400 0.981 D D -0.457 1.262 -0.227 1.723 0.998 0.707 0.725 0.659 0.655 . 5.710 4.530 3.347 1.138 0.665 1.000 1.000 1.000 594 Sec7_domain . . . CYTH3 116 0 124 33 0.210191082802548 TRUE NA +ENSG00000048052.21 . BCM GRCh38.p13 chr7 18634673 18634678 + AAACAA AAACAA - In_Frame_Del DEL ENST00000432645.6 exon7 c.834_839del p.N279_N280del exonic ENSG00000048052.21 . nonframeshift deletion ENSG00000048052.21:ENST00000432645.6:exon7:c.834_839del:p.N279_N280del 7p21.1 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDAC9 274 0 194 27 0.122171945701357 TRUE TRUE +ENSG00000160862.13 . BCM GRCh38.p13 chr7 99968334 99968336 + ATG ATG - In_Frame_Del DEL ENST00000292401.9 exon3 c.432_434del p.I145del exonic ENSG00000160862.13 . nonframeshift deletion ENSG00000160862.13:ENST00000292401.9:exon3:c.432_434del:p.I145del 7q22.1 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AZGP1 241 0 122 21 0.146853146853147 TRUE TRUE +ENSG00000261115.6 . BCM GRCh38.p13 chr7 141470741 141470741 + G G T Missense_Mutation SNP ENST00000565468.6 exon4 c.G840T p.R280S exonic ENSG00000261115.6 . nonsynonymous SNV ENSG00000261115.6:ENST00000565468.6:exon4:c.G840T:p.R280S 7q34 C3L-00817 . . . . . . . . . 5.14 T T . . . D N T N 0.591 . . D . . 0.436 . T T T T . D 2.427 22.200 0.987 D D . . . . 0.898 0.615 0.610 0.659 0.564 . 5.740 4.870 2.369 1.176 0.676 1.000 1.000 0.999 531 . . . ID=COSV73803110;OCCURENCE=1(oesophagus) TMEM178B 116 0 109 27 0.198529411764706 TRUE TRUE +ENSG00000132561.14 . BCM GRCh38.p13 chr8 97888143 97888143 + C C G Missense_Mutation SNP ENST00000254898.7 exon2 c.C43G p.Q15E exonic ENSG00000132561.14 . nonsynonymous SNV ENSG00000132561.14:ENST00000254898.7:exon2:c.C43G:p.Q15E 8q22.1 C3L-00817 . . . . . . . . . 4.20 T T P B N D N D N 0.371 T T T 0.253 0.442 0.864 0.222 T T T T D T 1.227 13.840 0.971 D N -0.128 2.087 -0.072 2.128 1.000 0.713 0.563 0.609 0.114 . 5.020 5.020 3.222 1.026 0.599 0.634 0.276 0.451 773 . . . . MATN2 77 0 58 20 0.256410256410256 TRUE TRUE +ENSG00000185122.11 . BCM GRCh38.p13 chr8 144313529 144313529 + C C A Missense_Mutation SNP ENST00000528838.6 exon10 c.C1161A p.H387Q exonic ENSG00000185122.11 . nonsynonymous SNV ENSG00000185122.11:ENST00000528838.6:exon10:c.C1161A:p.H387Q 8q24.3 C3L-00817 . . . . . . . . . 8.18 T T D D D D M . D 0.743 T T T 0.239 0.550 0.698 0.288 T T D T D . 2.411 22.100 0.985 N N -0.007 2.485 -0.150 1.912 1.000 0.672 0.702 0.269 0.646 . 4.840 2.110 0.091 0.128 -0.180 0.008 0.480 0.915 940 Vertebrate_heat_shock_transcription_factor,_C-terminal_domain . . . HSF1 169 0 142 27 0.159763313609467 TRUE TRUE +ENSG00000078725.13 . BCM GRCh38.p13 chr9 119167262 119167262 + A A T Missense_Mutation SNP ENST00000265922.8 exon8 c.T2108A p.I703N exonic ENSG00000078725.13 . nonsynonymous SNV ENSG00000078725.13:ENST00000265922.8:exon8:c.T2108A:p.I703N 9q33.1 C3L-00817 . . . . . . . . . 11.20 D D B B D D L T D 0.970 T T T 0.335 0.656 0.610 1.673 D T D T D D 3.394 24.400 0.992 D D 0.070 2.769 0.240 3.385 0.987 0.626 0.574 0.805 0.621 . 5.730 4.580 9.234 1.312 0.756 1.000 1.000 1.000 488 . . . . BRINP1 247 1 155 46 0.228855721393035 TRUE TRUE +ENSG00000107290.14 . BCM GRCh38.p13 chr9 132349384 132349384 + A A C Missense_Mutation SNP ENST00000224140.6 exon3 c.T45G p.I15M exonic ENSG00000107290.14 . nonsynonymous SNV ENSG00000107290.14:ENST00000224140.6:exon3:c.T45G:p.I15M 9q34.13 C3L-00817 . . . . . . . . . 4.20 D D B B N N N D N 0.190 T T D 0.139 0.281 0.539 0.129 T T T T T T 0.758 8.990 0.957 N N -1.001 0.403 -1.035 0.447 1.000 0.707 0.686 0.702 0.714 . 5.410 -1.450 -0.137 1.307 0.686 0.007 0.261 0.283 952 . . . . SETX 329 0 251 88 0.259587020648968 TRUE TRUE +ENSG00000095777.17 . BCM GRCh38.p13 chr10 26170539 26170539 + G G C Missense_Mutation SNP ENST00000642920.2 exon29 c.G3398C p.R1133T exonic ENSG00000095777.17 . nonsynonymous SNV ENSG00000095777.17:ENST00000642920.2:exon29:c.G3398C:p.R1133T 10p12.1 C3L-00817 . . . . . . . . . 9.20 T T B B D D M T N 0.608 T T D 0.465 0.536 0.856 0.110 T T D D D T 5.546 34 0.975 D D 0.094 2.862 0.259 3.487 0.998 0.554 0.574 0.602 0.564 . 5.030 5.030 5.710 1.176 0.676 1.000 0.969 0.972 751 . . . . MYO3A 212 0 206 52 0.201550387596899 TRUE TRUE +ENSG00000167346.7 . BCM GRCh38.p13 chr11 4991371 4991371 + C C T Missense_Mutation SNP ENST00000380390.5 exon5 c.C470T p.A157V exonic ENSG00000167346.7 . nonsynonymous SNV ENSG00000167346.7:ENST00000380390.5:exon5:c.C470T:p.A157V 11p15.4 C3L-00817 8.293e-06 0 0 0.0001 0 0 0 0 rs775293392 1.20 T T B B U D L T N 0.122 T T T 0.021 0.481 0.048 0.118 T T T T T T 0.725 8.683 0.839 N N -1.416 0.111 -1.526 0.098 0.949 0.526 0.616 0.616 0.564 . 3.930 -4.970 -1.705 -1.027 -1.000 0.000 0.003 0.006 879 Peptidase,_metallopeptidase;Peptidase_M10A,_catalytic_domain;Peptidase_M10,_metallopeptidase . . . MMP26 74 0 54 19 0.26027397260274 TRUE NA +ENSG00000167995.17 . BCM GRCh38.p13 chr11 61962857 61962859 + AAG AAG - In_Frame_Del DEL ENST00000378043.9 exon10 c.1703_1705del p.K568_D569delinsN exonic ENSG00000167995.17 . nonframeshift deletion ENSG00000167995.17:ENST00000378043.9:exon10:c.1703_1705del:p.K568_D569delinsN 11q12.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BEST1 407 0 382 64 0.143497757847534 TRUE TRUE +ENSG00000110237.5 . BCM GRCh38.p13 chr11 73356341 73356341 + G G T Missense_Mutation SNP ENST00000263674.4 exon6 c.G3830T p.G1277V exonic ENSG00000110237.5 . nonsynonymous SNV ENSG00000110237.5:ENST00000263674.4:exon6:c.G3830T:p.G1277V 11q13.4 C3L-00817 . . . . . . . . . 12.20 D D D D D D M T D 0.760 T T T 0.407 0.356 0.563 1.268 T T T T D D 4.759 32 0.998 D D 0.913 11.382 0.887 13.186 1.000 0.707 0.709 0.645 0.714 . 5.470 5.470 9.707 1.176 0.676 1.000 1.000 1.000 487 . . . . ARHGEF17 114 0 115 23 0.166666666666667 TRUE TRUE +ENSG00000168014.16 . BCM GRCh38.p13 chr11 74034080 74034080 + G G C Missense_Mutation SNP ENST00000334126.11 exon31 c.C6080G p.T2027S exonic ENSG00000168014.16 . nonsynonymous SNV ENSG00000168014.16:ENST00000334126.11:exon31:c.C6080G:p.T2027S 11q13.4 C3L-00817 . . . . . . . . . 2.17 T T . . N N M T N 0.062 T T T 0.034 0.194 0.221 . . T T T T T 0.535 6.862 0.286 D N -0.289 1.642 -0.330 1.503 0.994 0.707 0.654 0.725 0.714 . 6.030 4.110 3.745 1.176 0.676 0.303 0.357 0.422 325 . . . . C2CD3 243 0 192 48 0.2 TRUE TRUE +ENSG00000100644.17 . BCM GRCh38.p13 chr14 61740578 61740578 + A A - Frame_Shift_Del DEL ENST00000337138.9 exon11 c.1610delA p.K538Nfs*20 exonic ENSG00000100644.17 . frameshift deletion ENSG00000100644.17:ENST00000337138.9:exon11:c.1610delA:p.K538Nfs*20 14q23.2 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIF1A 69 0 70 7 0.0909090909090909 NA TRUE +ENSG00000165861.14 . BCM GRCh38.p13 chr14 72978223 72978223 + C C A Missense_Mutation SNP ENST00000556143.6 exon7 c.G1431T p.E477D exonic ENSG00000165861.14 . nonsynonymous SNV ENSG00000165861.14:ENST00000556143.6:exon7:c.G1431T:p.E477D 14q24.2 C3L-00817 . . . . . . . . . 7.20 T T P B D D M T N 0.706 T T T 0.226 0.168 0.378 0.286 T T D T D D 3.115 23.700 0.998 D N 0.242 3.493 0.344 3.981 1.000 0.706 0.725 0.710 0.723 . 5.830 4.770 1.393 1.026 0.594 1.000 1.000 0.997 805 . . . . ZFYVE1 187 0 141 32 0.184971098265896 TRUE TRUE +ENSG00000100721.11 . BCM GRCh38.p13 chr14 95714017 95714017 + C C T Missense_Mutation SNP ENST00000402399.6 exon1 c.G50A p.R17H exonic ENSG00000100721.11 . nonsynonymous SNV ENSG00000100721.11:ENST00000402399.6:exon1:c.G50A:p.R17H 14q32.13 C3L-00817 . . . . . . . . . 0.20 T T B B N N L T N 0.275 T T T 0.088 0.724 0.391 0.406 T T T T T T 2.183 20.700 0.997 N N -0.739 0.749 -0.662 0.955 1.000 0.635 0.522 0.654 0.613 . 3.070 1.080 0.597 0.926 0.599 0.969 0.963 0.706 909 . . . ID=COSV68085318;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(pancreas),2(prostate) TCL1A 139 0 138 21 0.132075471698113 TRUE TRUE +ENSG00000104055.16 . BCM GRCh38.p13 chr15 43252822 43252822 + C C T Missense_Mutation SNP ENST00000220420.10 exon6 c.G799A p.A267T exonic ENSG00000104055.16 . nonsynonymous SNV ENSG00000104055.16:ENST00000220420.10:exon6:c.G799A:p.A267T 15q15.2 C3L-00817 3.298e-05 0 0 0 0 6e-05 0 0 rs761166440 4.20 T T D P N N N D N 0.262 T D D 0.288 0.498 0.721 0.174 T T T T T T 2.113 20.200 0.998 N N -0.260 1.716 -0.333 1.498 1.000 0.405 0.517 0.574 0.530 . 4.780 3.860 -0.096 0.130 0.599 0.000 0.651 0.574 15 . . . ID=COSV55010442;OCCURENCE=1(large_intestine) TGM5 290 1 282 81 0.223140495867769 TRUE TRUE +ENSG00000007545.16 . BCM GRCh38.p13 chr16 1637830 1637830 + C C G Missense_Mutation SNP ENST00000397412.8 exon5 c.C701G p.S234C exonic ENSG00000007545.16;ENSG00000261732.1 . nonsynonymous SNV ENSG00000007545.16:ENST00000397412.8:exon5:c.C701G:p.S234C 16p13.3 C3L-00817 . . . . . . . . . 15.19 D D D D D D M . D 0.279 T T D 0.200 0.381 0.159 2.107 D D D T D D 3.635 25.200 0.992 D N 0.549 5.442 0.485 5.027 0.992 0.707 0.725 0.725 0.714 . 4.730 4.730 4.624 0.936 0.587 1.000 0.954 0.271 553 . . . . CRAMP1 18 0 32 4 0.111111111111111 TRUE TRUE +ENSG00000103540.16 . BCM GRCh38.p13 chr16 19544863 19544863 + C C G Missense_Mutation SNP ENST00000381396.9 exon9 c.C2551G p.Q851E exonic ENSG00000103540.16 . nonsynonymous SNV ENSG00000103540.16:ENST00000381396.9:exon9:c.C2551G:p.Q851E 16p12.3 C3L-00817 . . . . . . . . . 11.20 D D D D D D M T N 0.852 T T T 0.221 0.419 0.588 0.699 T T T T D D 3.263 24.000 0.995 D D 0.796 8.701 0.780 9.569 1.000 0.732 0.744 0.744 0.728 . 5.620 5.620 5.752 1.026 0.599 1.000 0.998 0.990 446 . . . . CCP110 138 0 124 18 0.126760563380282 TRUE TRUE +ENSG00000140937.14 . BCM GRCh38.p13 chr16 64950805 64950805 + G G A Missense_Mutation SNP ENST00000268603.9 exon12 c.C1856T p.A619V exonic ENSG00000140937.14 . nonsynonymous SNV ENSG00000140937.14:ENST00000268603.9:exon12:c.C1856T:p.A619V 16q21 C3L-00817 . . . . . . . . . 14.20 D T D D D D M T D 0.910 T T D 0.413 0.457 0.678 0.738 T T D D D D 3.329 24.200 0.993 D D 0.609 6.021 0.529 5.429 1.000 0.706 0.547 0.659 0.613 . 5.810 5.810 10.003 1.176 0.676 1.000 0.038 0.052 536 . . . . CDH11 156 0 151 41 0.213541666666667 TRUE TRUE +ENSG00000101639.18 . BCM GRCh38.p13 chr18 13055798 13055798 + T T A Missense_Mutation SNP ENST00000506447.5 exon19 c.T3208A p.L1070M exonic ENSG00000101639.18 . nonsynonymous SNV ENSG00000101639.18:ENST00000506447.5:exon19:c.T3208A:p.L1070M 18p11.21 C3L-00817 . . . . . . . . . 6.17 D D . . D D . T N 0.514 T T D 0.384 0.184 0.620 0.498 T T T T D T 1.478 15.590 0.993 N N -0.045 2.355 -0.207 1.769 0.521 0.732 0.725 0.744 0.684 . 4.500 0.116 -0.122 -0.144 -0.121 0.035 0.637 0.214 466 . . . . CEP192 39 0 43 10 0.188679245283019 TRUE TRUE +ENSG00000141644.17 . BCM GRCh38.p13 chr18 50273401 50273401 + T T G Missense_Mutation SNP ENST00000591416.5 exon13 c.A1517C p.Q506P exonic ENSG00000141644.17 . nonsynonymous SNV ENSG00000141644.17:ENST00000591416.5:exon13:c.A1517C:p.Q506P 18q21.1 C3L-00817 . . . . . . . . . 5.20 T T B B N D N D N 0.305 T D D 0.206 . 0.556 0.597 T T T T T D 2.542 22.500 0.952 N N -0.519 1.140 -0.364 1.439 1.000 0.707 0.702 0.725 0.714 . 5.110 0.935 0.388 0.142 0.665 0.993 0.996 0.998 899 . . . . MBD1 618 0 589 118 0.166902404526167 TRUE TRUE +ENSG00000173572.11 . BCM GRCh38.p13 chr19 55913079 55913079 + C C A Missense_Mutation SNP ENST00000342929.3 exon5 c.G738T p.M246I exonic ENSG00000173572.11 . nonsynonymous SNV ENSG00000173572.11:ENST00000342929.3:exon5:c.G738T:p.M246I 19q13.43 C3L-00817 . . . . . . . . . 3.19 D T D P . N L T N 0.121 T T D 0.273 0.747 0.546 0.032 T T T T T T 0.842 9.821 0.974 N N -0.573 1.038 -0.815 0.737 0.000 0.487 0.574 0.547 0.564 . 2.810 -1.800 -0.395 0.676 0.545 0.005 0.543 0.037 895 NACHT_nucleoside_triphosphatase . . . NLRP13 127 0 159 15 0.0862068965517241 TRUE TRUE +ENSG00000132671.5 . BCM GRCh38.p13 chr20 23035898 23035898 + G G T Missense_Mutation SNP ENST00000255008.4 exon1 c.G415T p.V139L exonic ENSG00000132671.5 . nonsynonymous SNV ENSG00000132671.5:ENST00000255008.4:exon1:c.G415T:p.V139L 20p11.21 C3L-00817 . . . . . . . . . 11.20 D D D D U D L T D 0.569 T T T 0.251 0.539 0.599 1.279 D T T T D D 3.707 25.400 0.997 D D 0.499 5.025 0.428 4.566 1.000 0.497 0.590 0.608 0.530 . 3.870 3.870 7.177 1.176 0.671 1.000 0.578 0.886 862 GPCR,_rhodopsin-like,_7TM . . . SSTR4 119 1 58 15 0.205479452054795 TRUE TRUE +ENSG00000169083.17 . BCM GRCh38.p13 chrX 67711608 67711608 + T T - Frame_Shift_Del DEL ENST00000374690.9 exon4 c.2092delT p.F698Lfs*91 exonic ENSG00000169083.17 . frameshift deletion ENSG00000169083.17:ENST00000374690.9:exon4:c.2092delT:p.F698Lfs*91 Xq12 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AR 57 0 40 20 0.333333333333333 TRUE TRUE +ENSG00000185985.10 . BCM GRCh38.p13 chrX 145824328 145824328 + T T A Missense_Mutation SNP ENST00000335565.5 exon5 c.T1903A p.F635I exonic ENSG00000185985.10 . nonsynonymous SNV ENSG00000185985.10:ENST00000335565.5:exon5:c.T1903A:p.F635I Xq27.3 C3L-00817 . . . . . . . . . 7.19 T T B B D D L T N 0.534 T T D 0.201 0.402 0.637 0.816 D T T T D D 2.233 21.100 0.932 D . . . . . 0.964 . . . . . 5.630 5.630 4.049 1.138 0.665 1.000 1.000 0.997 987 . . . . SLITRK2 81 0 34 37 0.52112676056338 TRUE TRUE +ENSG00000132854.19 . BCM GRCh38.p13 chr1 62274897 62274897 + C C T Silent SNP ENST00000371153.9 exon3 c.G207A p.L69L exonic ENSG00000132854.19 . synonymous SNV ENSG00000132854.19:ENST00000371153.9:exon3:c.G207A:p.L69L 1p31.3 C3L-00817 0.0002 9.612e-05 8.639e-05 0 0 0.0003 0 6.056e-05 rs139247138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANK4 163 0 156 28 0.152173913043478 TRUE NA +ENSG00000134243.12 . BCM GRCh38.p13 chr1 109345850 109345850 + T T C Silent SNP ENST00000256637.8 exon8 c.A864G p.R288R exonic ENSG00000134243.12 . synonymous SNV ENSG00000134243.12:ENST00000256637.8:exon8:c.A864G:p.R288R 1p13.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORT1 140 0 154 14 0.0833333333333333 TRUE TRUE +ENSG00000218819.6 . BCM GRCh38.p13 chr2 21141334 21141334 + G G A Silent SNP ENST00000405799.3 exon4 c.G3867A p.P1289P exonic ENSG00000218819.6 . synonymous SNV ENSG00000218819.6:ENST00000405799.3:exon4:c.G3867A:p.P1289P 2p24.1 C3L-00817 0.0009 0 0 0 0 0 0 0.0021 rs553925360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDRD15 123 0 95 22 0.188034188034188 TRUE NA +ENSG00000136535.15 . BCM GRCh38.p13 chr2 161423417 161423417 + C C T Silent SNP ENST00000389554.8 exon6 c.C1239T p.D413D exonic ENSG00000136535.15 . synonymous SNV ENSG00000136535.15:ENST00000389554.8:exon6:c.C1239T:p.D413D 2q24.2 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBR1 56 0 39 12 0.235294117647059 TRUE TRUE +ENSG00000183873.17 . BCM GRCh38.p13 chr3 38604891 38604891 + A A G Silent SNP ENST00000333535.9 exon11 c.T1356C p.G452G exonic ENSG00000183873.17 . synonymous SNV ENSG00000183873.17:ENST00000333535.9:exon11:c.T1356C:p.G452G 3p22.2 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN5A 93 0 79 22 0.217821782178218 TRUE TRUE +ENSG00000182613.2 . BCM GRCh38.p13 chr5 181155032 181155032 + C C T Silent SNP ENST00000641492.1 exon2 c.C90T p.S30S exonic ENSG00000182613.2 . synonymous SNV ENSG00000182613.2:ENST00000641492.1:exon2:c.C90T:p.S30S 5q35.3 C3L-00817 0.0001 0.0004 0 0.0001 0.0005 7.493e-05 0 6.058e-05 rs149430597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60314667;OCCURENCE=1(biliary_tract),1(skin),2(endometrium) OR2V2 260 0 225 65 0.224137931034483 TRUE TRUE +ENSG00000095981.10 . BCM GRCh38.p13 chr6 39317849 39317849 + G G T Silent SNP ENST00000373229.9 exon3 c.C432A p.G144G exonic ENSG00000095981.10 . synonymous SNV ENSG00000095981.10:ENST00000373229.9:exon3:c.C432A:p.G144G 6p21.2 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNK16 128 0 84 5 0.0561797752808989 TRUE NA +ENSG00000014164.7 . BCM GRCh38.p13 chr8 143475543 143475543 + A A G Silent SNP ENST00000262577.6 exon5 c.T1758C p.G586G exonic ENSG00000014164.7 . synonymous SNV ENSG00000014164.7:ENST00000262577.6:exon5:c.T1758C:p.G586G 8q24.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZC3H3 122 0 97 19 0.163793103448276 TRUE TRUE +ENSG00000198722.14 . BCM GRCh38.p13 chr9 35380599 35380599 + T T A Silent SNP ENST00000378495.7 exon17 c.T2088A p.V696V exonic ENSG00000198722.14 . synonymous SNV ENSG00000198722.14:ENST00000378495.7:exon17:c.T2088A:p.V696V 9p13.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13B 148 0 130 41 0.239766081871345 TRUE TRUE +ENSG00000148204.12 . BCM GRCh38.p13 chr9 123370706 123370706 + G G T Silent SNP ENST00000373631.8 exon7 c.G1653T p.V551V exonic ENSG00000148204.12 . synonymous SNV ENSG00000148204.12:ENST00000373631.8:exon7:c.G1653T:p.V551V 9q33.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRB2 249 0 156 25 0.138121546961326 TRUE TRUE +ENSG00000180264.11 . BCM GRCh38.p13 chr9 124453245 124453245 + G G T Unknown SNP NA NA NA NA exonic ENSG00000180264.11 . unknown UNKNOWN 9q33.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRD2 57 0 32 3 0.0857142857142857 TRUE NA +ENSG00000136942.15 . BCM GRCh38.p13 chr9 124857981 124857981 + C C T Silent SNP ENST00000348462.6 exon4 c.G309A p.K103K exonic ENSG00000136942.15 . synonymous SNV ENSG00000136942.15:ENST00000348462.6:exon4:c.G309A:p.K103K 9q33.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPL35 175 0 178 41 0.187214611872146 NA TRUE +ENSG00000106976.21 . BCM GRCh38.p13 chr9 128219227 128219227 + G G A Silent SNP ENST00000372923.8 exon4 c.G564A p.K188K exonic ENSG00000106976.21 . synonymous SNV ENSG00000106976.21:ENST00000372923.8:exon4:c.G564A:p.K188K 9q34.11 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNM1 181 0 155 51 0.247572815533981 TRUE TRUE +ENSG00000171798.18 . BCM GRCh38.p13 chr10 133198437 133198437 + G G A Silent SNP ENST00000304613.8 exon13 c.G2007A p.A669A exonic ENSG00000171798.18 . synonymous SNV ENSG00000171798.18:ENST00000304613.8:exon13:c.G2007A:p.A669A 10q26.3 C3L-00817 1.595e-05 0 0 0 0 2.939e-05 0 0 rs760314836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58845014;OCCURENCE=1(prostate) KNDC1 133 0 138 42 0.233333333333333 TRUE TRUE +ENSG00000161791.14 . BCM GRCh38.p13 chr12 49707136 49707136 + G G T Silent SNP ENST00000335154.10 exon1 c.C45A p.P15P exonic ENSG00000161791.14 . synonymous SNV ENSG00000161791.14:ENST00000335154.10:exon1:c.C45A:p.P15P 12q13.12 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMNL3 91 0 63 8 0.112676056338028 TRUE TRUE +ENSG00000184394.2 . BCM GRCh38.p13 chr14 20144113 20144113 + C C A Silent SNP ENST00000641086.1 exon3 c.C378A p.I126I exonic ENSG00000184394.2 . synonymous SNV ENSG00000184394.2:ENST00000641086.1:exon3:c.C378A:p.I126I 14q11.2 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR4N5 197 0 166 30 0.153061224489796 TRUE TRUE +ENSG00000140090.17 . BCM GRCh38.p13 chr14 92492240 92492240 + C C T Silent SNP ENST00000532405.5 exon16 c.C1716T p.T572T exonic ENSG00000140090.17 . synonymous SNV ENSG00000140090.17:ENST00000532405.5:exon16:c.C1716T:p.T572T 14q32.12 C3L-00817 0.0002 0.0018 8.639e-05 0 0 0 0.0011 6.059e-05 rs139434074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC24A4 100 0 93 19 0.169642857142857 TRUE NA +ENSG00000214013.9 . BCM GRCh38.p13 chr15 42310424 42310424 + G G A Silent SNP ENST00000318010.12 exon9 c.G864A p.S288S exonic ENSG00000214013.9 . synonymous SNV ENSG00000214013.9:ENST00000318010.12:exon9:c.G864A:p.S288S 15q15.1 C3L-00817 8.357e-06 9.741e-05 0 0 0 0 0 0 rs369762885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58810972;OCCURENCE=1(central_nervous_system),1(prostate) GANC 57 0 65 10 0.133333333333333 TRUE TRUE +ENSG00000153976.3 . BCM GRCh38.p13 chr17 13496266 13496266 + G G A Silent SNP ENST00000284110.2 exon2 c.C1152T p.R384R exonic ENSG00000153976.3 . synonymous SNV ENSG00000153976.3:ENST00000284110.2:exon2:c.C1152T:p.R384R 17p12 C3L-00817 3.67e-05 0 0 0 0 0 0 0.0004 rs767095174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52372861;OCCURENCE=4(pancreas) HS3ST3A1 46 0 38 8 0.173913043478261 NA TRUE +ENSG00000130528.12 . BCM GRCh38.p13 chr19 49154848 49154848 + C C T Silent SNP ENST00000252825.9 exon1 c.G390A p.Q130Q exonic ENSG00000130528.12 . synonymous SNV ENSG00000130528.12:ENST00000252825.9:exon1:c.G390A:p.Q130Q 19q13.33 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HRC 220 0 154 46 0.23 TRUE TRUE +ENSG00000125510.18 . BCM GRCh38.p13 chr20 64098367 64098367 + C C T Silent SNP ENST00000336866.7 exon5 c.C681T p.P227P exonic ENSG00000125510.18 . synonymous SNV ENSG00000125510.18:ENST00000336866.7:exon5:c.C681T:p.P227P 20q13.33 C3L-00817 1.662e-05 0 0 0.0002 0 0 0 0 rs745704885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61091777;OCCURENCE=1(skin) OPRL1 328 0 245 66 0.212218649517685 TRUE TRUE +ENSG00000096264.14 . BCM GRCh38.p13 chr6 41342918 41342918 + G G A Intron SNP NA NA NA NA intronic ENSG00000096264.14 . . . 6p21.1 C3L-00817 . . . . . . . . . 1.5 . . . . . A . . . 0.467 . . . . . . . . . T T . . 0.150 2.580 0.747 N N -0.905 0.514 -1.117 0.358 0.016 0.554 0.588 0.492 0.542 . 2.150 -0.748 -0.174 -0.910 -0.691 0.002 0.003 0.001 944 . . . . NCR2 117 0 85 23 0.212962962962963 TRUE TRUE +ENSG00000254607.2 . BCM GRCh38.p13 chr11 126681966 126681966 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254607.2 . . . 11q24.2 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP001783.1 35 0 46 8 0.148148148148148 TRUE NA +ENSG00000228835.1 . BCM GRCh38.p13 chr18 32772267 32772267 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000228835.1 . . . 18q12.1 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC012123.1 61 0 34 10 0.227272727272727 TRUE NA +ENSG00000071564.17 . BCM GRCh38.p13 chr19 1650250 1650250 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000071564.17 ENST00000262965.12:c.-2G>C . . 19p13.3 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCF3 98 0 127 9 0.0661764705882353 TRUE NA +ENSG00000204120.15 . BCM GRCh38.p13 chr2 232735228 232735229 + GG GG CT Unknown MNP ENST00000373563.9 exon3 c.31_32delinsCT p.G11L exonic ENSG00000204120.15 . nonframeshift substitution ENSG00000204120.15:ENST00000373563.9:exon3:c.31_32delinsCT:p.G11L 2q37.1 C3L-00817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GIGYF2 323 53 270 56 0.171779141104294 TRUE TRUE +ENSG00000159423.17 . BCM GRCh38.p13 chr1 18881872 18881872 + A A T Missense_Mutation SNP ENST00000375341.8 exon8 c.T694A p.W232R exonic ENSG00000159423.17 . nonsynonymous SNV ENSG00000159423.17:ENST00000375341.8:exon8:c.T694A:p.W232R 1p36.13 C3L-00902 . . . . . . . . . 19.20 D D D D D D H T D 0.972 D D D 0.878 0.899 0.953 0.433 D D D D D D 4.457 32 0.995 D D 0.831 9.408 0.758 8.996 1.000 0.732 0.710 0.744 0.636 . 4.910 4.910 8.269 1.312 0.756 1.000 1.000 0.998 951 Aldehyde_dehydrogenase_domain . . . ALDH4A1 276 0 392 82 0.172995780590717 TRUE TRUE +ENSG00000126106.14 . BCM GRCh38.p13 chr1 44654563 44654563 + C C G Missense_Mutation SNP ENST00000372237.8 exon3 c.G830C p.C277S exonic ENSG00000126106.14 . nonsynonymous SNV ENSG00000126106.14:ENST00000372237.8:exon3:c.G830C:p.C277S 1p34.1 C3L-00902 . . . . . . . . . 4.19 D D P B N D N . N 0.219 T T T 0.054 0.506 0.247 1.038 T T T T D T 1.676 16.870 0.919 N N -0.385 1.417 -0.351 1.463 0.990 0.732 0.744 0.710 0.568 . 5.250 3.310 -0.662 0.947 0.599 0.002 0.711 0.234 367 . . . . TMEM53 57 0 69 25 0.265957446808511 TRUE TRUE +ENSG00000122482.21 . BCM GRCh38.p13 chr1 90939816 90939816 + T T C Missense_Mutation SNP ENST00000337393.10 exon3 c.A1538G p.Q513R exonic ENSG00000122482.21 . nonsynonymous SNV ENSG00000122482.21:ENST00000337393.10:exon3:c.A1538G:p.Q513R 1p22.2 C3L-00902 8.26e-06 0 0 0 0 1.503e-05 0 0 rs759517244 7.20 T T P B D D L T N 0.661 T T D 0.288 0.523 0.401 0.720 D T T T T D 3.099 23.600 0.996 D D 0.182 3.223 0.340 3.961 1.000 0.707 0.725 0.702 0.714 . 5.880 5.880 5.916 1.138 0.665 1.000 1.000 1.000 904 Zinc_finger_C2H2-type . . . ZNF644 261 0 105 33 0.239130434782609 TRUE NA +ENSG00000143373.18 . BCM GRCh38.p13 chr1 151287920 151287920 + - NA T Frame_Shift_Ins INS ENST00000324048.9 exon3 c.1630dupT p.L544Ffs*10 exonic ENSG00000143373.18 . frameshift insertion ENSG00000143373.18:ENST00000324048.9:exon3:c.1630dupT:p.L544Ffs*10 1q21.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF687 NA NA NA NA NA NA NA +ENSG00000143552.9 . BCM GRCh38.p13 chr1 154027531 154027531 + A A C Missense_Mutation SNP ENST00000368559.7 exon29 c.T3922G p.S1308A exonic ENSG00000143552.9 . nonsynonymous SNV ENSG00000143552.9:ENST00000368559.7:exon29:c.T3922G:p.S1308A 1q21.3 C3L-00902 . . . . . . . . . 9.20 D D D P D D M T N 0.708 T T T 0.169 0.533 0.798 0.523 T T T T D T 3.683 25.300 0.997 D D 0.658 6.571 0.680 7.393 0.999 0.487 0.574 0.574 0.564 . 5.700 5.700 6.872 1.233 0.665 1.000 1.000 0.995 83 . . . . NUP210L 136 0 48 13 0.213114754098361 TRUE TRUE +ENSG00000018625.15 . BCM GRCh38.p13 chr1 160136605 160136605 + T T A Missense_Mutation SNP ENST00000361216.8 exon19 c.T2599A p.F867I exonic ENSG00000018625.15 . nonsynonymous SNV ENSG00000018625.15:ENST00000361216.8:exon19:c.T2599A:p.F867I 1q23.2 C3L-00902 . . . . . . . . . 18.20 D D B B D D M D D 0.693 D D D 0.913 0.740 0.965 2.248 D D D D D D 3.799 25.800 0.986 D D 0.364 4.130 0.421 4.512 1.000 0.707 0.563 0.725 0.542 . 4.710 4.710 8.017 1.138 0.665 1.000 0.999 0.995 851 Cation-transporting_P-type_ATPase,_C-terminal . . . ATP1A2 358 2 376 120 0.241935483870968 TRUE TRUE +ENSG00000198734.12 . BCM GRCh38.p13 chr1 169520561 169520561 + C C T Missense_Mutation SNP ENST00000367797.9 exon22 c.G6152A p.R2051K exonic ENSG00000198734.12 . nonsynonymous SNV ENSG00000198734.12:ENST00000367797.9:exon22:c.G6152A:p.R2051K 1q24.2 C3L-00902 . . . . . . . . . 5.20 T T B B N N L D N 0.213 D D D 0.288 0.563 0.712 0.091 T D T T T T 1.315 14.500 0.973 N N -0.445 1.288 -0.316 1.532 0.008 0.487 0.574 0.574 0.564 . 5.800 2.280 0.132 1.026 0.599 0.085 0.997 0.987 759 Coagulation_factor_5/8_C-terminal_domain . . . F5 328 0 132 32 0.195121951219512 TRUE TRUE +ENSG00000162782.16 . BCM GRCh38.p13 chr1 179663408 179663408 + G G T Missense_Mutation SNP ENST00000367614.5 exon15 c.G2404T p.V802L exonic ENSG00000162782.16 . nonsynonymous SNV ENSG00000162782.16:ENST00000367614.5:exon15:c.G2404T:p.V802L 1q25.2 C3L-00902 . . . . . . . . . 2.20 D T B B N N L T N 0.370 T T T 0.084 0.231 0.068 0.244 T T T T T T 1.705 17.060 0.839 D N -0.211 1.846 -0.110 2.019 0.987 0.554 0.574 0.618 0.657 . 5.180 4.260 1.109 1.176 0.665 0.997 0.715 0.517 611 . . . . TDRD5 150 0 48 17 0.261538461538462 TRUE TRUE +ENSG00000123684.13 . BCM GRCh38.p13 chr1 211750976 211750976 + G G A Missense_Mutation SNP ENST00000366997.9 exon7 c.C946T p.H316Y exonic ENSG00000123684.13 . nonsynonymous SNV ENSG00000123684.13:ENST00000366997.9:exon7:c.C946T:p.H316Y 1q32.3 C3L-00902 . . . . . . . . . 6.20 T T D P D D L T N 0.372 T T T 0.281 0.335 0.248 0.785 T T T T D T 2.971 23.400 0.981 D D 0.361 4.108 0.388 4.272 1.000 0.732 0.744 0.659 0.684 . 5.490 4.580 6.568 0.227 -0.104 1.000 0.997 0.995 870 Acyltransferase,_C-terminal_domain . . . LPGAT1 147 0 47 13 0.216666666666667 TRUE TRUE +ENSG00000196208.14 . BCM GRCh38.p13 chr2 11610806 11610806 + C C A Missense_Mutation SNP ENST00000381486.7 exon18 c.C2785A p.L929M exonic ENSG00000196208.14 . nonsynonymous SNV ENSG00000196208.14:ENST00000381486.7:exon18:c.C2785A:p.L929M 2p25.1 C3L-00902 . . . . . . . . . 9.20 T D D D D D L T N 0.627 T T D 0.245 0.245 0.761 1.135 T T T T D T 3.562 24.900 0.996 D D 0.682 6.870 0.649 6.896 1.000 0.651 0.588 0.651 0.542 . 5.320 5.320 2.821 1.023 0.599 0.997 0.999 0.996 928 . . . . GREB1 416 1 436 126 0.224199288256228 TRUE TRUE +ENSG00000138079.14 . BCM GRCh38.p13 chr2 44320409 44320409 + A A G Missense_Mutation SNP ENST00000260649.11 exon10 c.A1828G p.M610V exonic ENSG00000138079.14 . nonsynonymous SNV ENSG00000138079.14:ENST00000260649.11:exon10:c.A1828G:p.M610V 2p21 C3L-00902 . . . . . . . . . 4.20 T T B B N N N D N 0.082 D D D 0.177 0.448 0.618 0.006 T T T T T T 0.068 1.823 0.530 N N -1.023 0.380 -0.980 0.515 0.006 0.706 0.725 0.710 0.714 . 5.990 2.350 -0.431 1.233 0.665 0.000 0.702 0.671 845 . . . . SLC3A1 321 0 138 44 0.241758241758242 TRUE TRUE +ENSG00000153208.17 . BCM GRCh38.p13 chr2 111975429 111975429 + G G A Nonsense_Mutation SNP ENST00000295408.9 exon7 c.G1101A p.W367X exonic ENSG00000153208.17 . stopgain ENSG00000153208.17:ENST00000295408.9:exon7:c.G1101A:p.W367X 2q13 C3L-00902 . . . . . . . . . 4.6 . . . . U A . . . 0.997 . . . . . . . . . D D . . 7.947 40 0.997 D N 1.100 17.515 0.950 16.086 1.000 0.731 0.588 0.616 0.649 . 5.570 5.570 6.837 1.175 0.676 1.000 0.970 0.895 885 Fibronectin_type_III . . . MERTK 342 0 260 88 0.252873563218391 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149886 10149886 + T T C Missense_Mutation SNP ENST00000256474.3 exon3 c.T563C p.L188P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon3:c.T563C:p.L188P 3p25.3 C3L-00902 . . . . . . . . . 19.20 D D D D D D M D D 0.970 D D D 0.959 0.911 0.999 1.382 T D D D D D 4.344 29.900 0.999 D D 0.727 7.512 0.684 7.468 1.000 0.722 0.702 0.698 0.735 . 4.970 4.970 6.258 1.138 0.665 1.000 1.000 0.991 379 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56546651;OCCURENCE=6(kidney) VHL 535 0 268 114 0.298429319371728 TRUE TRUE +ENSG00000114737.15 . BCM GRCh38.p13 chr3 50608001 50608001 + T T C Missense_Mutation SNP ENST00000348721.3 exon3 c.A383G p.N128S exonic ENSG00000114737.15 . nonsynonymous SNV ENSG00000114737.15:ENST00000348721.3:exon3:c.A383G:p.N128S 3p21.2 C3L-00902 . . . . . . . . . 9.20 T T P P D D N D N 0.216 T D D 0.451 0.692 0.935 0.546 T T T T D D 3.062 23.500 0.997 D D 0.260 3.581 0.377 4.196 1.000 0.615 0.634 0.659 0.492 . 5.740 5.740 6.076 1.138 0.665 1.000 1.000 0.997 9 SH2_domain;CIS,_SH2_domain . . . CISH 165 0 158 52 0.247619047619048 TRUE TRUE +ENSG00000010327.10 . BCM GRCh38.p13 chr3 52524001 52524001 + G G A Missense_Mutation SNP ENST00000321725.10 exon67 c.G7526A p.G2509D exonic ENSG00000010327.10 . nonsynonymous SNV ENSG00000010327.10:ENST00000321725.10:exon67:c.G7526A:p.G2509D 3p21.1 C3L-00902 . . . . . . . . . 9.20 D D P B N N M D N 0.533 T T D 0.427 0.503 0.831 0.640 T T D T D T 2.295 21.500 0.990 D D 0.367 4.147 0.437 4.628 1.000 0.672 0.514 0.487 0.711 . 5.480 5.480 2.811 1.176 0.676 1.000 0.984 0.946 86 . . . . STAB1 98 0 50 30 0.375 TRUE TRUE +ENSG00000118007.13 . BCM GRCh38.p13 chr3 136542158 136542158 + A A T Missense_Mutation SNP ENST00000383202.7 exon6 c.T432A p.N144K exonic ENSG00000118007.13 . nonsynonymous SNV ENSG00000118007.13:ENST00000383202.7:exon6:c.T432A:p.N144K 3q22.3 C3L-00902 . . . . . . . . . 9.20 D T P B D D L T D 0.746 T T D 0.126 0.537 0.208 0.952 D T T T D D 2.187 20.800 0.993 D N 0.032 2.625 0.072 2.622 0.802 0.706 0.710 0.653 0.613 . 5.060 2.680 4.876 -0.043 0.756 1.000 0.998 1.000 418 . . . . STAG1 162 1 43 7 0.14 TRUE TRUE +ENSG00000163882.9 . BCM GRCh38.p13 chr3 184363535 184363535 + A A G Missense_Mutation SNP ENST00000456318.5 exon2 c.A43G p.I15V exonic ENSG00000163882.9 . nonsynonymous SNV ENSG00000163882.9:ENST00000456318.5:exon2:c.A43G:p.I15V 3q27.1 C3L-00902 . . . . . . . . . 6.19 T T B B D D L . N 0.452 T T T 0.153 0.460 0.387 0.650 T T T T D D 2.655 22.700 0.985 D D -0.046 2.350 0.197 3.167 1.000 0.442 0.522 0.522 0.562 . 6.170 5.010 8.787 1.312 0.750 1.000 0.999 0.997 901 . . . . POLR2H 267 0 315 84 0.210526315789474 TRUE TRUE +ENSG00000164190.19 . BCM GRCh38.p13 chr5 36986083 36986083 + - NA TT Frame_Shift_Ins INS ENST00000282516.13 exon10 c.2903_2904insTT p.V969Lfs*11 exonic ENSG00000164190.19 . frameshift insertion ENSG00000164190.19:ENST00000282516.13:exon10:c.2903_2904insTT:p.V969Lfs*11 5p13.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NIPBL NA NA NA NA NA NA NA +ENSG00000112996.11 . BCM GRCh38.p13 chr5 44815110 44815110 + G G A Missense_Mutation SNP ENST00000507110.6 exon5 c.G1228A p.V410M exonic ENSG00000112996.11 . nonsynonymous SNV ENSG00000112996.11:ENST00000507110.6:exon5:c.G1228A:p.V410M 5p12 C3L-00902 . . . . . . . . . 14.20 D D D D D D M T N 0.551 T T D 0.395 0.720 0.461 0.771 T T D D D D 3.929 26.500 0.999 D D 0.880 10.553 0.856 12.002 1.000 0.732 0.744 0.702 0.714 . 5.860 5.860 6.674 1.106 0.676 1.000 1.000 0.997 577 . . . . MRPS30 146 0 52 8 0.133333333333333 TRUE NA +ENSG00000134987.11 . BCM GRCh38.p13 chr5 111121124 111121124 + A A C Missense_Mutation SNP ENST00000506538.6 exon19 c.A2299C p.N767H exonic ENSG00000134987.11 . nonsynonymous SNV ENSG00000134987.11:ENST00000506538.6:exon19:c.A2299C:p.N767H 5q22.1 C3L-00902 . . . . . . . . . 5.19 . T B B N D L T D 0.213 T T D 0.282 0.739 0.477 0.031 T T T T D T 2.431 22.200 0.970 D N -0.169 1.966 0.019 2.424 1.000 0.732 0.744 0.725 0.714 . 5.730 4.550 3.842 1.312 0.756 1.000 1.000 0.998 899 Small-subunit_processome,_Utp21 . . . WDR36 232 1 66 27 0.290322580645161 TRUE TRUE +ENSG00000064651.14 . BCM GRCh38.p13 chr5 128138673 128138673 + T T G Missense_Mutation SNP ENST00000262461.7 exon8 c.T1485G p.F495L exonic ENSG00000064651.14 . nonsynonymous SNV ENSG00000064651.14:ENST00000262461.7:exon8:c.T1485G:p.F495L 5q23.3 C3L-00902 . . . . . . . . . 18.20 D D D D D D H D D 0.956 D D D 0.892 0.703 0.969 1.877 T D D D D D 3.218 23.900 0.998 D N 0.476 4.853 0.297 3.698 0.088 0.732 0.744 0.653 0.728 . 4.960 -0.137 0.745 1.138 0.665 1.000 1.000 1.000 761 Amino_acid_permease/_SLC12A_domain . . . SLC12A2 189 0 60 14 0.189189189189189 TRUE TRUE +ENSG00000113108.19 . BCM GRCh38.p13 chr5 140561693 140561693 + G G T Missense_Mutation SNP ENST00000357560.8 exon8 c.C641A p.A214D exonic ENSG00000113108.19 . nonsynonymous SNV ENSG00000113108.19:ENST00000357560.8:exon8:c.C641A:p.A214D 5q31.3 C3L-00902 . . . . . . . . . 15.20 D D D D D D M T D 0.948 T T D 0.604 0.724 0.882 0.777 T T D D D D 3.944 26.600 0.997 D D 0.896 10.941 0.887 13.222 1.000 0.706 0.725 0.710 0.684 . 5.990 5.990 9.937 1.176 0.676 1.000 1.000 0.998 216 PTB/PI_domain . . . APBB3 145 1 176 40 0.185185185185185 TRUE TRUE +ENSG00000204969.7 . BCM GRCh38.p13 chr5 140797294 140797294 + C C T Missense_Mutation SNP ENST00000526136.2 exon1 c.C2330T p.S777F exonic ENSG00000204969.7 . nonsynonymous SNV ENSG00000204969.7:ENST00000526136.2:exon1:c.C2330T:p.S777F 5q31.3 C3L-00902 . . . . . . . . . 6.19 D D P P U D L T D 0.284 T T D 0.079 0.263 0.622 . . T T T D T 2.140 20.400 0.998 N N -0.094 2.194 -0.183 1.828 1.000 0.581 0.574 0.576 0.613 . 4.000 4.000 1.819 1.002 0.545 0.003 0.449 0.617 18 . . . . PCDHA2 313 0 333 97 0.225581395348837 TRUE NA +ENSG00000204965.9 . BCM GRCh38.p13 chr5 140824045 140824045 + T T G Missense_Mutation SNP ENST00000529859.2 exon1 c.T2270G p.V757G exonic ENSG00000204965.9 . nonsynonymous SNV ENSG00000204965.9:ENST00000529859.2:exon1:c.T2270G:p.V757G 5q31.3 C3L-00902 . . . . . . . . . 8.18 D D P P . D M T D 0.420 T T D 0.150 0.374 0.375 0.615 . T T T D T 3.229 23.900 0.967 D N -0.165 1.976 -0.189 1.812 0.013 0.581 0.574 0.576 0.542 . 4.080 2.870 2.512 1.115 0.609 1.000 0.959 0.040 28 . . . . PCDHA5 215 0 219 50 0.185873605947955 TRUE TRUE +ENSG00000112062.10 . BCM GRCh38.p13 chr6 36096058 36096058 + T T C Missense_Mutation SNP ENST00000229794.8 exon9 c.T754C p.S252P exonic ENSG00000112062.10 . nonsynonymous SNV ENSG00000112062.10:ENST00000229794.8:exon9:c.T754C:p.S252P 6p21.31 C3L-00902 . . . . . . . . . 14.19 D D D D . D L T D 0.913 T T D 0.757 0.651 0.892 . D T D D D D 2.149 20.500 0.999 D D 0.627 6.206 0.633 6.669 1.000 0.707 0.725 0.644 0.714 . 4.920 4.920 7.491 1.138 0.665 1.000 1.000 1.000 552 Protein_kinase_domain . . . MAPK14 110 0 77 16 0.172043010752688 TRUE TRUE +ENSG00000112139.16 . BCM GRCh38.p13 chr6 37654915 37654915 + - NA A Frame_Shift_Ins INS ENST00000434837.8 exon5 c.596dupT p.K200Efs*21 exonic ENSG00000112139.16 . frameshift insertion ENSG00000112139.16:ENST00000434837.8:exon5:c.596dupT:p.K200Efs*21 6p21.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MDGA1 NA NA NA NA NA NA NA +ENSG00000146122.17 . BCM GRCh38.p13 chr6 39879463 39879463 + G G A Missense_Mutation SNP ENST00000274867.9 exon14 c.G1831A p.V611M exonic ENSG00000146122.17 . nonsynonymous SNV ENSG00000146122.17:ENST00000274867.9:exon14:c.G1831A:p.V611M 6p21.2 C3L-00902 . . . . . . . . . 7.20 T T D D N D M T N 0.396 T T T 0.093 0.427 0.239 0.531 T T T T D D 3.273 24.000 0.997 D N 0.222 3.402 0.148 2.938 1.000 0.554 0.590 0.618 0.542 . 5.150 4.280 2.338 1.172 -0.153 1.000 1.000 0.685 665 Formin,_FH2_domain . . . DAAM2 289 0 281 85 0.23224043715847 TRUE TRUE +ENSG00000120278.16 . BCM GRCh38.p13 chr6 150840526 150840526 + C C A Missense_Mutation SNP ENST00000358517.6 exon16 c.C3788A p.T1263K exonic ENSG00000120278.16 . nonsynonymous SNV ENSG00000120278.16:ENST00000358517.6:exon16:c.C3788A:p.T1263K 6q25.1 C3L-00902 . . . . . . . . . 5.20 T T B B D D M T N 0.390 T T T 0.197 0.419 0.792 . T T T T D T 1.819 17.870 0.961 D N -0.225 1.808 -0.136 1.948 0.996 0.615 0.634 0.602 0.636 . 5.460 3.540 2.376 0.125 -0.185 0.969 0.936 0.789 950 . . . . PLEKHG1 204 0 115 36 0.23841059602649 TRUE TRUE +ENSG00000106460.19 . BCM GRCh38.p13 chr7 12224245 12224245 + T T G Missense_Mutation SNP ENST00000396668.8 exon4 c.T301G p.S101A exonic ENSG00000106460.19 . nonsynonymous SNV ENSG00000106460.19:ENST00000396668.8:exon4:c.T301G:p.S101A 7p21.3 C3L-00902 . . . . . . . . . 5.20 T T B B D D L T N 0.711 T T T 0.204 0.744 0.421 0.794 T T T T D T 3.013 23.400 0.996 D D 0.251 3.538 0.356 4.058 1.000 0.732 0.634 0.710 0.728 . 4.880 4.880 7.805 1.138 0.663 1.000 0.997 0.995 884 . . . . TMEM106B 147 0 65 22 0.252873563218391 TRUE TRUE +ENSG00000173041.12 . BCM GRCh38.p13 chr7 64521612 64521612 + - NA C Frame_Shift_Ins INS ENST00000309683.11 exon4 c.1141dupG p.E381Gfs*15 exonic ENSG00000173041.12 . frameshift insertion ENSG00000173041.12:ENST00000309683.11:exon4:c.1141dupG:p.E381Gfs*15 7q11.21 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF680 NA NA NA NA NA NA NA +ENSG00000106336.13 . BCM GRCh38.p13 chr7 100592832 100592832 + T T A Missense_Mutation SNP ENST00000241071.11 exon5 c.T608A p.V203D exonic ENSG00000106336.13 . nonsynonymous SNV ENSG00000106336.13:ENST00000241071.11:exon5:c.T608A:p.V203D 7q22.1 C3L-00902 . . . . . . . . . 13.20 D D D D D D N T N 0.924 T T D 0.333 0.551 0.817 0.904 T T D D D D 3.615 25.100 0.985 D D 0.449 4.661 0.465 4.857 1.000 0.660 0.590 0.696 0.542 . 5.740 5.740 4.635 1.133 0.659 1.000 0.151 0.457 . . . . . FBXO24 350 1 332 112 0.252252252252252 TRUE TRUE +ENSG00000091128.13 . BCM GRCh38.p13 chr7 108098412 108098412 + C C T Missense_Mutation SNP ENST00000388781.8 exon11 c.G1351A p.G451S exonic ENSG00000091128.13 . nonsynonymous SNV ENSG00000091128.13:ENST00000388781.8:exon11:c.G1351A:p.G451S 7q31.1 C3L-00902 . . . . . . . . . 17.20 D D D D D D M T D 0.844 D D D 0.475 0.617 0.273 0.323 T T D D D D 3.575 25.000 0.999 D D 0.649 6.460 0.480 4.978 1.000 0.497 0.590 0.573 0.613 . 5.000 4.120 6.141 1.026 0.599 1.000 0.392 0.562 702 Laminin_EGF_domain . . . LAMB4 60 0 75 28 0.271844660194175 TRUE TRUE +ENSG00000106648.14 . BCM GRCh38.p13 chr7 151971042 151971042 + A A C Missense_Mutation SNP ENST00000392800.7 exon3 c.A345C p.E115D exonic ENSG00000106648.14 . nonsynonymous SNV ENSG00000106648.14:ENST00000392800.7:exon3:c.A345C:p.E115D 7q36.1 C3L-00902 . . . . . . . . . 0.20 T T B B N N N T N 0.132 T T T 0.027 0.172 0.190 0.013 T T T T T T -1.644 0.001 0.079 N N -2.344 0.002 -2.473 0.001 1.000 0.487 0.574 0.574 0.542 . 4.940 -9.880 -2.761 -0.829 -0.909 0.000 0.111 0.034 643 . . . . GALNTL5 220 0 66 19 0.223529411764706 TRUE TRUE +ENSG00000091879.14 . BCM GRCh38.p13 chr8 6562754 6562754 + C C T Missense_Mutation SNP ENST00000325203.9 exon1 c.G181A p.V61M exonic ENSG00000091879.14 . nonsynonymous SNV ENSG00000091879.14:ENST00000325203.9:exon1:c.G181A:p.V61M 8p23.1 C3L-00902 . . . . . . . . . 4.20 T T B B N D L D N 0.172 T T D 0.130 0.476 0.803 0.055 T T T T T T 2.215 21.000 0.990 D N -0.236 1.777 -0.066 2.146 1.000 0.554 0.588 0.492 0.562 . 5.640 3.710 2.775 0.138 0.599 1.000 0.989 0.982 928 . . . ID=COSV57336044;OCCURENCE=1(liver) ANGPT2 170 0 189 11 0.055 TRUE TRUE +ENSG00000184659.5 . BCM GRCh38.p13 chr9 65737596 65737596 + G G A Missense_Mutation SNP ENST00000377413.2 exon1 c.G451A p.A151T exonic ENSG00000184659.5 . nonsynonymous SNV ENSG00000184659.5:ENST00000377413.2:exon1:c.G451A:p.A151T 9q21.11 C3L-00902 . . . . . . . . . 14.16 D D . . U D . D D 0.235 D D D 0.708 0.632 0.966 . . D D D D D 4.270 29.300 0.999 D N 0.320 3.886 0.222 3.291 0.117 0.487 0.574 0.574 0.564 . 2.180 2.180 6.294 0.962 0.318 1.000 0.997 0.986 994 Fork_head_domain . . . FOXD4L4 198 0 224 43 0.161048689138577 NA TRUE +ENSG00000148200.17 . BCM GRCh38.p13 chr9 124540119 124540119 + G G T Missense_Mutation SNP ENST00000487099.7 exon5 c.C510A p.S170R exonic ENSG00000148200.17 . nonsynonymous SNV ENSG00000148200.17:ENST00000487099.7:exon5:c.C510A:p.S170R 9q33.3 C3L-00902 . . . . . . . . . 13.20 D T P B D D L D N 0.527 D D D 0.335 0.191 0.488 0.791 T T D D D D 2.541 22.500 0.996 D D 0.159 3.125 0.330 3.894 1.000 0.706 0.710 0.725 0.616 . 5.990 5.990 2.976 1.176 0.676 1.000 1.000 0.998 742 . . . . NR6A1 148 0 113 20 0.150375939849624 TRUE TRUE +ENSG00000177125.5 . BCM GRCh38.p13 chr9 126880304 126880304 + C C A Missense_Mutation SNP ENST00000373452.2 exon1 c.C893A p.A298D exonic ENSG00000177125.5 . nonsynonymous SNV ENSG00000177125.5:ENST00000373452.2:exon1:c.C893A:p.A298D 9q33.3 C3L-00902 . . . . . . . . . 4.20 D T B B N D N T N 0.208 T T T 0.069 0.280 0.068 1.104 T T T T T T 2.197 20.800 0.994 D D -0.068 2.279 0.183 3.099 1.000 0.672 0.577 0.702 0.636 . 5.780 5.780 5.427 1.026 0.599 1.000 0.998 0.992 916 . . . . ZBTB34 338 2 321 75 0.189393939393939 TRUE TRUE +ENSG00000196422.11 . BCM GRCh38.p13 chr9 135486161 135486161 + T T G Missense_Mutation SNP ENST00000356818.7 exon4 c.T1651G p.L551V exonic ENSG00000196422.11 . nonsynonymous SNV ENSG00000196422.11:ENST00000356818.7:exon4:c.T1651G:p.L551V 9q34.3 C3L-00902 . . . . . . . . . 0.20 T T B B N N N T N 0.032 T T T 0.019 0.228 0.103 0.174 T T T T T T 0.280 4.058 0.780 N N -1.097 0.309 -1.235 0.255 1.000 0.672 0.588 0.702 0.636 . 4.810 -4.970 -0.408 0.915 0.665 0.008 0.008 0.074 511 Protein_phosphatase_1_regulatory_subunit_26,_N-terminal_domain . . . PPP1R26 146 0 208 55 0.209125475285171 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 17114116 17114116 + T T C Missense_Mutation SNP ENST00000377833.10 exon8 c.A794G p.D265G exonic ENSG00000107611.16 . nonsynonymous SNV ENSG00000107611.16:ENST00000377833.10:exon8:c.A794G:p.D265G 10p13 C3L-00902 . . . . . . . . . 18.20 D D D D D D M D D 0.698 D D D 0.908 0.915 0.947 0.509 T D D D D T 3.326 24.200 0.998 D D 0.770 8.215 0.629 6.610 1.000 0.487 0.574 0.574 0.000 . 5.640 5.640 7.797 1.049 0.665 1.000 0.021 0.021 744 EGF-like_domain;EGF-like_calcium-binding_domain . . . CUBN 478 0 652 95 0.127175368139224 TRUE TRUE +ENSG00000095777.17 . BCM GRCh38.p13 chr10 26168712 26168712 + - NA T Frame_Shift_Ins INS ENST00000642920.2 exon28 c.3113dupT p.F1039Vfs*3 exonic ENSG00000095777.17 . frameshift insertion ENSG00000095777.17:ENST00000642920.2:exon28:c.3113dupT:p.F1039Vfs*3 10p12.1 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO3A NA NA NA NA NA NA NA +ENSG00000138279.16 . BCM GRCh38.p13 chr10 73383666 73383683 + CTGATTTGAGATCTTTGA CTGATTTGAGATCTTTGA - In_Frame_Del DEL ENST00000372921.10 exon8 c.641_658del p.I214_E220delinsK exonic ENSG00000138279.16 . nonframeshift deletion ENSG00000138279.16:ENST00000372921.10:exon8:c.641_658del:p.I214_E220delinsK 10q22.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANXA7 163 0 81 13 0.138297872340426 TRUE TRUE +ENSG00000107679.14 . BCM GRCh38.p13 chr10 122406615 122406615 + A A G Missense_Mutation SNP ENST00000368990.7 exon5 c.A284G p.N95S exonic ENSG00000107679.14 . nonsynonymous SNV ENSG00000107679.14:ENST00000368990.7:exon5:c.A284G:p.N95S 10q26.13 C3L-00902 9.063e-05 9.61e-05 0 0.0001 0 0.0001 0.0011 6.058e-05 rs138054087 9.20 T T B B D D M T D 0.699 T T D 0.308 . 0.790 1.007 T D T T T D 2.479 22.400 0.999 D D 0.325 3.909 0.483 5.009 1.000 0.732 0.670 0.710 0.728 . 6.170 6.170 8.818 1.312 0.756 1.000 1.000 0.998 964 Pleckstrin_homology_domain . . . PLEKHA1 226 0 78 20 0.204081632653061 TRUE NA +ENSG00000187918.5 . BCM GRCh38.p13 chr11 5453988 5453988 + C C A Missense_Mutation SNP ENST00000641930.1 exon2 c.C500A p.P167H exonic ENSG00000187918.5 . nonsynonymous SNV ENSG00000187918.5:ENST00000641930.1:exon2:c.C500A:p.P167H 11p15.4 C3L-00902 . . . . . . . . . 8.20 T T D D D D M T D 0.281 T T T 0.244 0.492 0.477 0.050 T T T T D T 3.323 24.200 0.995 D N 0.452 4.685 0.361 4.094 1.000 0.554 0.588 0.574 0.564 . 5.580 5.580 1.230 1.014 0.596 0.000 0.985 0.999 695 GPCR,_rhodopsin-like,_7TM . . . OR51I2 256 0 169 35 0.17156862745098 TRUE TRUE +ENSG00000182255.7 . BCM GRCh38.p13 chr11 30012432 30012432 + G G A Missense_Mutation SNP ENST00000328224.7 exon2 c.C247T p.R83W exonic ENSG00000182255.7 . nonsynonymous SNV ENSG00000182255.7:ENST00000328224.7:exon2:c.C247T:p.R83W 11p14.1 C3L-00902 1.67e-05 0.0001 0 0 0 1.515e-05 0 0 rs772880533 6.20 D D B B U N N D N 0.118 D D D 0.284 . 0.428 0.508 T T T T T T 1.073 12.500 0.997 N N -0.823 0.622 -0.805 0.751 0.000 0.487 0.590 0.590 0.564 . 4.840 -0.005 0.556 0.111 0.590 0.096 0.010 0.592 653 . . . ID=COSV60254930;OCCURENCE=1(large_intestine) KCNA4 194 0 244 68 0.217948717948718 TRUE TRUE +ENSG00000184937.15 . BCM GRCh38.p13 chr11 32434826 32434826 + C C A Missense_Mutation SNP ENST00000452863.9 exon1 c.G535T p.A179S exonic ENSG00000184937.15 . nonsynonymous SNV ENSG00000184937.15:ENST00000452863.9:exon1:c.G535T:p.A179S 11p13 C3L-00902 . . . . . . . . . 9.14 D D . . U . . D N 0.335 D D D 0.613 . 0.723 . T . T T D . 4.001 27.000 0.998 D D 0.427 4.512 0.383 4.243 1.000 0.598 0.563 0.607 0.639 . 3.240 3.240 5.733 0.952 0.511 1.000 0.998 0.987 727 Wilm's_tumour_protein,_N-terminal . . . WT1 403 0 558 136 0.195965417867435 TRUE TRUE +ENSG00000085733.16 . BCM GRCh38.p13 chr11 70414644 70414644 + - NA T Nonsense_Mutation SNP ENST00000301843.13 exon6 c.395dupT p.D133* exonic ENSG00000085733.16 . stopgain ENSG00000085733.16:ENST00000301843.13:exon6:c.395dupT:p.D133* 11q13.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTTN NA NA NA NA NA NA NA +ENSG00000165457.14 . BCM GRCh38.p13 chr11 72221598 72221598 + C C T Missense_Mutation SNP ENST00000298223.11 exon5 c.C604T p.R202C exonic ENSG00000165457.14 . nonsynonymous SNV ENSG00000165457.14:ENST00000298223.11:exon5:c.C604T:p.R202C 11q13.4 C3L-00902 8.238e-06 0 0 0 0 1.499e-05 0 0 rs761315273 13.20 D D P B U D M T D 0.617 T T D 0.623 0.732 0.800 0.103 T D D D D D 3.120 23.700 0.993 D D 0.117 2.953 0.053 2.551 1.000 0.497 0.586 0.547 0.542 . 4.580 0.011 2.094 0.124 0.596 1.000 0.997 0.932 807 Folate_receptor-like . . . FOLR2 429 1 458 94 0.170289855072464 TRUE NA +ENSG00000110723.12 . BCM GRCh38.p13 chr11 108512818 108512818 + C C T Missense_Mutation SNP ENST00000265843.9 exon6 c.G2689A p.A897T exonic ENSG00000110723.12 . nonsynonymous SNV ENSG00000110723.12:ENST00000265843.9:exon6:c.G2689A:p.A897T 11q22.3 C3L-00902 . . . . . . . . . 0.17 T T . . N N . T N 0.085 T T T 0.083 0.077 0.030 0.050 T T T T T T 0.394 5.365 0.974 N N -0.698 0.817 -0.786 0.777 0.991 0.651 0.588 0.651 0.542 . 5.740 -0.940 0.007 1.026 0.599 0.000 0.792 0.263 819 . . . . EXPH5 142 0 53 12 0.184615384615385 TRUE NA +ENSG00000167257.11 . BCM GRCh38.p13 chr11 117282426 117282426 + C C T Nonsense_Mutation SNP ENST00000300650.9 exon12 c.C1735T p.Q579X exonic ENSG00000167257.11 . stopgain ENSG00000167257.11:ENST00000300650.9:exon12:c.C1735T:p.Q579X 11q23.3 C3L-00902 . . . . . . . . . 5.6 . . . . D A . . . 0.272 . . . . . . . . . D D . . 7.806 39 0.998 D N 0.950 12.417 0.839 11.382 1.000 0.707 0.654 0.725 0.714 . 5.630 5.630 5.444 1.026 0.599 1.000 1.000 1.000 651 . . . . RNF214 98 0 90 31 0.256198347107438 TRUE TRUE +ENSG00000135473.15 . BCM GRCh38.p13 chr12 56323530 56323530 + T T - Frame_Shift_Del DEL ENST00000610546.4 exon15 c.2253delA p.E752Rfs*17 exonic ENSG00000135473.15 . frameshift deletion ENSG00000135473.15:ENST00000610546.4:exon15:c.2253delA:p.E752Rfs*17 12q13.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAN2 170 0 84 17 0.168316831683168 TRUE TRUE +ENSG00000118596.12 . BCM GRCh38.p13 chr12 59774715 59774715 + T T A Nonsense_Mutation SNP ENST00000547379.6 exon5 c.T420A p.Y140X exonic ENSG00000118596.12 . stopgain ENSG00000118596.12:ENST00000547379.6:exon5:c.T420A:p.Y140X 12q14.1 C3L-00902 . . . . . . . . . 3.6 . . . . N A . . . 0.931 . . . . . . . . . D D . . 4.886 33 0.993 N N 0.180 3.216 -0.179 1.838 0.000 0.554 0.588 0.618 0.621 . 5.870 -1.120 -0.139 1.138 0.663 0.042 0.852 0.590 894 Major_facilitator_superfamily_domain . . . SLC16A7 51 0 34 13 0.276595744680851 TRUE TRUE +ENSG00000067798.16 . BCM GRCh38.p13 chr12 78007378 78007378 + G G A Missense_Mutation SNP ENST00000397909.7 exon8 c.G1840A p.V614I exonic ENSG00000067798.16 . nonsynonymous SNV ENSG00000067798.16:ENST00000397909.7:exon8:c.G1840A:p.V614I 12q21.2 C3L-00902 . . . . . . . . . 9.20 D T D D U D M T N 0.504 T T T 0.089 0.209 0.446 0.557 T T T T D D 2.349 21.800 0.998 D D 0.539 5.354 0.570 5.867 1.000 0.707 0.574 0.618 0.714 . 4.840 4.840 7.919 1.176 0.676 1.000 0.997 0.998 946 . . . . NAV3 116 1 103 32 0.237037037037037 TRUE TRUE +ENSG00000165899.11 . BCM GRCh38.p13 chr12 80279095 80279095 + G G T Missense_Mutation SNP ENST00000547103.6 exon26 c.G2857T p.D953Y exonic ENSG00000165899.11 . nonsynonymous SNV ENSG00000165899.11:ENST00000547103.6:exon26:c.G2857T:p.D953Y 12q21.31 C3L-00902 . . . . . . . . . 13.15 D D . . . D . T D 0.981 D D D 0.780 0.661 0.606 0.198 T . D D D D 4.153 28.200 0.995 D D 0.662 6.613 0.677 7.344 1.000 0.487 0.574 0.574 0.564 . 5.620 5.620 9.561 1.155 0.618 1.000 0.999 0.856 555 von_Willebrand_factor,_type_D_domain . . . OTOGL 305 1 125 29 0.188311688311688 TRUE TRUE +ENSG00000151148.14 . BCM GRCh38.p13 chr12 109499654 109499654 + C C - Frame_Shift_Del DEL ENST00000342494.8 exon12 c.962delC p.L322Sfs*6 exonic ENSG00000151148.14 . frameshift deletion ENSG00000151148.14:ENST00000342494.8:exon12:c.962delC:p.L322Sfs*6 12q24.11 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBE3B 77 0 59 23 0.280487804878049 TRUE TRUE +ENSG00000111271.15 . BCM GRCh38.p13 chr12 111734017 111734017 + G G T Missense_Mutation SNP ENST00000313698.9 exon11 c.G1489T p.A497S exonic ENSG00000111271.15 . nonsynonymous SNV ENSG00000111271.15:ENST00000313698.9:exon11:c.G1489T:p.A497S 12q24.12 C3L-00902 . . . . . . . . . 14.20 D D D D D D M T D 0.783 T T T 0.431 0.720 0.586 0.574 T T D D D D 3.283 24.100 0.996 D D 0.427 4.516 0.427 4.557 1.000 0.706 0.710 0.710 0.636 . 5.020 5.020 7.421 1.167 0.676 1.000 0.754 0.228 479 Aminoglycoside_phosphotransferase . . . ACAD10 315 0 303 65 0.176630434782609 TRUE TRUE +ENSG00000125304.10 . BCM GRCh38.p13 chr13 99539519 99539519 + G G T Nonsense_Mutation SNP ENST00000376387.5 exon7 c.G790T p.E264X exonic ENSG00000125304.10 . stopgain ENSG00000125304.10:ENST00000376387.5:exon7:c.G790T:p.E264X 13q32.3 C3L-00902 . . . . . . . . . 5.6 . . . . D A . . . 0.497 . . . . . . . . . D D . . 8.147 41 0.998 D N 1.088 17.001 0.964 16.801 1.000 0.732 0.725 0.710 0.728 . 5.790 5.790 6.064 1.172 0.614 1.000 1.000 0.999 446 . . . . TM9SF2 184 0 67 23 0.255555555555556 TRUE TRUE +ENSG00000100523.16 . BCM GRCh38.p13 chr14 53152589 53152589 + C C G Missense_Mutation SNP ENST00000673822.2 exon1 c.G510C p.W170C exonic ENSG00000100523.16 . nonsynonymous SNV ENSG00000100523.16:ENST00000673822.2:exon1:c.G510C:p.W170C 14q22.1 C3L-00902 . . . . . . . . . 17.19 D D D D D D M . D 0.821 T T D 0.649 0.768 0.238 1.660 D D D D D D 4.469 32 0.992 D D 0.590 5.823 0.518 5.326 1.000 0.652 0.522 0.641 0.628 . 3.570 3.570 5.107 0.962 0.524 1.000 1.000 0.993 627 . . . . DDHD1 295 0 325 95 0.226190476190476 TRUE TRUE +ENSG00000170099.6 . BCM GRCh38.p13 chr14 94306072 94306072 + T T C Missense_Mutation SNP ENST00000341584.4 exon4 c.A1031G p.K344R exonic ENSG00000170099.6 . nonsynonymous SNV ENSG00000170099.6:ENST00000341584.4:exon4:c.A1031G:p.K344R 14q32.13 C3L-00902 . . . . . . . . . 8.19 T T B B N D M D N 0.108 D D D 0.277 0.595 0.871 0.108 T T T T T . 2.400 22.100 0.978 D D -0.336 1.529 -0.280 1.607 0.996 0.487 0.574 0.547 0.564 . 4.780 3.610 2.341 0.142 0.665 0.996 0.612 0.031 929 Serpin_domain . . . SERPINA6 224 0 199 71 0.262962962962963 TRUE TRUE +ENSG00000176454.14 . BCM GRCh38.p13 chr15 34360164 34360164 + C C T Missense_Mutation SNP ENST00000314891.11 exon12 c.G1189A p.A397T exonic ENSG00000176454.14 . nonsynonymous SNV ENSG00000176454.14:ENST00000314891.11:exon12:c.G1189A:p.A397T 15q14 C3L-00902 . . . . . . . . . 3.20 T T P P N D L T N 0.594 T T T 0.133 0.404 0.375 1.523 T T T T D T 3.685 25.300 0.997 D N 0.368 4.149 0.476 4.945 1.000 0.732 0.725 0.744 0.714 . 6.070 6.070 2.821 1.026 0.599 1.000 0.998 0.993 670 . . . . LPCAT4 210 1 200 34 0.145299145299145 TRUE TRUE +ENSG00000128829.12 . BCM GRCh38.p13 chr15 39934301 39934301 + G G T Missense_Mutation SNP ENST00000263791.10 exon1 c.G106T p.A36S exonic ENSG00000128829.12 . nonsynonymous SNV ENSG00000128829.12:ENST00000263791.10:exon1:c.G106T:p.A36S 15q15.1 C3L-00902 . . . . . . . . . 0.20 T T B B N N N T N 0.050 T T T 0.018 0.475 0.449 0.215 T T T T T T 1.597 16.360 0.877 N N -0.917 0.499 -0.821 0.729 1.000 0.442 0.522 0.504 0.562 . 4.500 -0.432 0.270 -0.269 0.571 0.185 0.640 0.946 565 RWD_domain . . . EIF2AK4 259 0 345 78 0.184397163120567 TRUE TRUE +ENSG00000067369.14 . BCM GRCh38.p13 chr15 43470051 43470051 + G G - Frame_Shift_Del DEL ENST00000263801.7 exon11 c.1181delC p.T394Sfs*24 exonic ENSG00000067369.14 . frameshift deletion ENSG00000067369.14:ENST00000263801.7:exon11:c.1181delC:p.T394Sfs*24 15q15.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53BP1 174 0 89 15 0.144230769230769 TRUE TRUE +ENSG00000273540.4 . BCM GRCh38.p13 chr15 86264508 86264508 + G G T Missense_Mutation SNP ENST00000441037.7 exon11 c.G1337T p.S446I exonic ENSG00000273540.4 . nonsynonymous SNV ENSG00000273540.4:ENST00000441037.7:exon11:c.G1337T:p.S446I 15q25.3 C3L-00902 . . . . . . . . . 0.16 . . B B N N N . . . T T T 0.019 0.348 0.072 0.012 T T T T T T 0.247 3.667 0.935 N N -1.023 0.380 -1.050 0.429 0.005 0.487 0.547 0.547 0.564 . 5.710 0.603 0.190 -0.132 -0.127 0.000 0.000 0.000 513 . . . ID=COSV66850597;OCCURENCE=1(ovary),1(soft_tissue) AGBL1 203 0 134 29 0.177914110429448 TRUE TRUE +ENSG00000007545.16 . BCM GRCh38.p13 chr16 1656718 1656718 + G G A Missense_Mutation SNP ENST00000397412.8 exon10 c.G1961A p.G654E exonic ENSG00000007545.16 . nonsynonymous SNV ENSG00000007545.16:ENST00000397412.8:exon10:c.G1961A:p.G654E 16p13.3 C3L-00902 . . . . . . . . . 8.19 D D D D N D M . N 0.489 T T T 0.232 0.096 0.139 1.070 T T T T D T 3.199 23.900 0.997 D N 0.365 4.134 0.356 4.063 0.999 0.461 0.577 0.576 0.492 . 4.400 4.400 3.319 1.083 0.676 1.000 0.995 0.735 557 . . . . CRAMP1 88 0 117 33 0.22 TRUE NA +ENSG00000122299.12 . BCM GRCh38.p13 chr16 11770951 11770951 + T T C Missense_Mutation SNP ENST00000355758.9 exon10 c.A940G p.S314G exonic ENSG00000122299.12 . nonsynonymous SNV ENSG00000122299.12:ENST00000355758.9:exon10:c.A940G:p.S314G 16p13.13 C3L-00902 8.249e-06 0 0 0 0 0 0 6.074e-05 rs779834277 0.20 T T B B N N L T N 0.131 T T T 0.005 0.234 0.093 0.012 T T T T T T 0.542 6.936 0.928 N N -0.998 0.407 -0.970 0.526 0.105 0.732 0.699 0.744 0.714 . 5.800 2.120 0.257 0.207 0.609 0.003 0.088 0.513 678 . . . . ZC3H7A 150 0 120 47 0.281437125748503 TRUE NA +ENSG00000166783.22 . BCM GRCh38.p13 chr16 15625703 15625703 + C C T Missense_Mutation SNP ENST00000396368.8 exon8 c.G1622A p.G541E exonic ENSG00000166783.22 . nonsynonymous SNV ENSG00000166783.22:ENST00000396368.8:exon8:c.G1622A:p.G541E 16p13.11 C3L-00902 . . . . . . . . . 15.17 D D . . D D M . D 0.933 D D D 0.624 0.527 0.731 1.624 T T D D D D 3.844 26.000 0.999 D D 0.849 9.820 0.829 11.051 1.000 0.566 0.616 0.609 0.636 . 5.620 5.620 7.156 1.026 0.549 1.000 0.999 0.998 649 Marf1,_RNA_recognition_motif_1;RNA_recognition_motif_domain;Marf1,_conserved_domain . . . MARF1 316 0 232 49 0.174377224199288 TRUE TRUE +ENSG00000156860.16 . BCM GRCh38.p13 chr16 30668873 30668873 + T T C Missense_Mutation SNP ENST00000287468.5 exon11 c.T700C p.F234L exonic ENSG00000156860.16 . nonsynonymous SNV ENSG00000156860.16:ENST00000287468.5:exon11:c.T700C:p.F234L 16p11.2 C3L-00902 . . . . . . . . . 13.20 T T D D D D M T D 0.904 T T D 0.640 0.432 0.374 0.463 D T D D D T 3.409 24.400 0.997 D D 0.613 6.055 0.594 6.144 1.000 0.707 0.644 0.673 0.714 . 4.960 4.960 4.757 1.130 0.659 1.000 1.000 0.999 24 . . . . FBRS 152 0 187 41 0.179824561403509 TRUE TRUE +ENSG00000004975.12 . BCM GRCh38.p13 chr17 7229410 7229410 + G G C Missense_Mutation SNP ENST00000005340.10 exon7 c.C785G p.S262C exonic ENSG00000004975.12 . nonsynonymous SNV ENSG00000004975.12:ENST00000005340.10:exon7:c.C785G:p.S262C 17p13.1 C3L-00902 . . . . . . . . rs776226256 14.20 D D D P D D M T D 0.826 T T D 0.345 0.457 0.666 0.798 D D T T D D 3.002 23.400 0.982 D D 0.301 3.783 0.220 3.284 1.000 0.707 0.702 0.702 0.714 . 4.920 3.940 8.117 0.218 -0.120 1.000 0.992 0.441 366 Dishevelled_protein_domain . . . DVL2 207 0 207 46 0.181818181818182 TRUE NA +ENSG00000277399.5 . BCM GRCh38.p13 chr17 38337111 38337111 + C C T Missense_Mutation SNP ENST00000616987.5 exon4 c.G1094A p.S365N exonic ENSG00000277399.5 . nonsynonymous SNV ENSG00000277399.5:ENST00000616987.5:exon4:c.G1094A:p.S365N 17q12 C3L-00902 . . . . . . . . . 3.13 . T . . D N . . . 0.450 T T T 0.085 0.293 0.061 . T . T T D T 2.577 22.600 0.996 D N 0.009 2.544 0.105 2.756 0.958 0.487 0.574 0.547 0.542 . 5.190 4.200 0.798 1.026 0.599 0.753 0.996 0.949 165 . . . . GPR179 293 0 334 96 0.223255813953488 TRUE TRUE +ENSG00000258890.7 . BCM GRCh38.p13 chr17 64508708 64508708 + G G A Missense_Mutation SNP ENST00000556440.7 exon2 c.G136A p.E46K exonic ENSG00000258890.7 . nonsynonymous SNV ENSG00000258890.7:ENST00000556440.7:exon2:c.G136A:p.E46K 17q23.3 C3L-00902 . . . . . . . . . 18.20 D D D D D D M D D 0.865 D D D 0.737 0.549 0.930 0.196 T T D D D D 5.053 33 0.999 D D 0.871 10.320 0.851 11.817 1.000 0.722 0.663 0.663 0.735 . 5.510 5.510 8.943 1.101 0.590 1.000 1.000 0.992 880 . . . . CEP95 32 0 9 5 0.357142857142857 TRUE TRUE +ENSG00000105613.10 . BCM GRCh38.p13 chr19 12874351 12874351 + T T A Missense_Mutation SNP ENST00000251472.9 exon26 c.T4194A p.D1398E exonic ENSG00000105613.10 . nonsynonymous SNV ENSG00000105613.10:ENST00000251472.9:exon26:c.T4194A:p.D1398E 19p13.13 C3L-00902 . . . . . . . . . 2.20 T T B B N N N T N 0.082 T T D 0.049 0.173 0.423 . D T T T T T 0.242 3.609 0.879 N N -1.724 0.033 -1.767 0.039 1.000 0.646 0.551 0.645 0.613 . 3.860 -7.710 -1.842 -0.169 -0.164 0.167 0.655 0.614 587 . . . . MAST1 90 0 131 44 0.251428571428571 TRUE TRUE +ENSG00000160352.16 . BCM GRCh38.p13 chr19 21118318 21118318 + G G A Missense_Mutation SNP ENST00000456283.7 exon5 c.G1654A p.G552S exonic ENSG00000160352.16 . nonsynonymous SNV ENSG00000160352.16:ENST00000456283.7:exon5:c.G1654A:p.G552S 19p12 C3L-00902 . . . . . . . . . 1.10 . D . . . N . . . 0.096 T T T 0.030 - 0.210 . T . T T T . 1.877 18.310 0.841 N . -0.852 0.582 -1.049 0.430 0.000 0.707 0.654 0.725 0.592 . 0.489 0.489 2.084 -0.347 -0.328 0.032 0.004 0.004 988 . . . . ZNF714 25 0 29 5 0.147058823529412 NA TRUE +ENSG00000105323.17 . BCM GRCh38.p13 chr19 41292296 41292296 + T T C Missense_Mutation SNP ENST00000392006.8 exon8 c.T1051C p.W351R exonic ENSG00000105323.17 . nonsynonymous SNV ENSG00000105323.17:ENST00000392006.8:exon8:c.T1051C:p.W351R 19q13.2 C3L-00902 8.236e-06 0 0 0.0001 0 0 0 0 rs748818271 4.20 T T D P N N N T D 0.512 T T T 0.383 0.579 0.626 1.229 T T T T T D 2.728 22.900 0.979 D N 0.125 2.987 0.250 3.441 0.874 0.707 0.702 0.702 0.714 . 6.040 6.040 0.214 1.138 0.665 0.979 1.000 1.000 607 0.000 . . . HNRNPUL1 233 0 201 43 0.176229508196721 TRUE NA +ENSG00000101311.15 . BCM GRCh38.p13 chr20 6084077 6084077 + A A T Missense_Mutation SNP ENST00000217289.8 exon13 c.T1681A p.S561T exonic ENSG00000101311.15 . nonsynonymous SNV ENSG00000101311.15:ENST00000217289.8:exon13:c.T1681A:p.S561T 20p12.3 C3L-00902 . . . . . . . . . 16.20 D D D D D D M T N 0.664 D D D 0.701 0.823 0.890 0.866 T D D T D D 4.049 27.300 0.996 D D 0.710 7.257 0.627 6.581 0.995 0.732 0.590 0.744 0.668 . 4.800 3.680 9.325 1.295 0.756 1.000 0.967 0.942 808 0.000 . . . FERMT1 382 0 477 128 0.211570247933884 TRUE TRUE +ENSG00000101216.11 . BCM GRCh38.p13 chr20 63602982 63602982 + T T A Missense_Mutation SNP ENST00000370077.2 exon4 c.A340T p.N114Y exonic ENSG00000101216.11 . nonsynonymous SNV ENSG00000101216.11:ENST00000370077.2:exon4:c.A340T:p.N114Y 20q13.33 C3L-00902 . . . . . . . . . 19.20 D D D D D D M T D 0.811 D D D 0.740 0.585 0.652 1.732 D D D D D D 4.347 30 0.995 D D 0.761 8.059 0.705 7.840 1.000 0.707 0.725 0.725 0.714 . 4.840 4.840 7.860 1.138 0.665 1.000 1.000 0.966 . SAND_domain . . . GMEB2 115 0 100 38 0.27536231884058 TRUE TRUE +ENSG00000026036.22 . BCM GRCh38.p13 chr20 63688532 63688532 + G G A Missense_Mutation SNP ENST00000492259.6 exon19 c.G1811A p.R604H exonic ENSG00000026036.22;ENSG00000258366.9 . nonsynonymous SNV ENSG00000026036.22:ENST00000492259.6:exon19:c.G1811A:p.R604H,ENSG00000258366.9:ENST00000370018.7:exon21:c.G1727A:p.R576H 20q13.33 C3L-00902 0.0018 0.0211 0.0005 0 0 0 0 0.0002 rs115423936 1.19 T T B B N N N D N 0.171 T T . 0.272 . 0.617 . T T T T T T 0.377 5.171 0.965 N N -1.448 0.098 -1.469 0.120 1.000 0.507 0.694 0.723 0.635 . 4.770 -3.860 0.582 -0.405 -0.185 0.001 0.001 0.031 . ATP-dependent_helicase,_C-terminal . . ID=COSV58892013;OCCURENCE=1(large_intestine),1(prostate) RTEL1-TNFRSF6B 212 1 228 57 0.2 TRUE TRUE +ENSG00000160299.17 . BCM GRCh38.p13 chr21 46401588 46401588 + T T A Nonsense_Mutation SNP ENST00000359568.10 exon26 c.T4829A p.L1610X exonic ENSG00000160299.17 . stopgain ENSG00000160299.17:ENST00000359568.10:exon26:c.T4829A:p.L1610X 21q22.3 C3L-00902 . . . . . . . . . 3.6 . . . . N A . . . 0.693 . . . . . . . . . D D . . 6.325 35 0.979 N N -0.027 2.416 -0.363 1.441 0.219 0.707 0.725 0.723 0.714 . 5.640 0.543 1.162 1.086 0.665 0.100 0.004 0.008 976 . . . . PCNT 411 0 366 104 0.221276595744681 TRUE TRUE +ENSG00000100154.14 . BCM GRCh38.p13 chr22 27983183 27983183 + A A T Missense_Mutation SNP ENST00000397906.6 exon23 c.T6484A p.L2162I exonic ENSG00000100154.14 . nonsynonymous SNV ENSG00000100154.14:ENST00000397906.6:exon23:c.T6484A:p.L2162I 22q12.1 C3L-00902 . . . . . . . . . 14.20 D T D D D D M D N 0.395 D D D 0.426 0.091 0.249 . T T D T D D 1.711 17.100 0.992 D N -0.420 1.340 -0.598 1.049 0.996 0.615 0.588 0.659 0.636 . 5.230 -6.460 0.205 -0.350 -0.065 0.987 0.562 0.824 958 . . . . TTC28 395 0 298 74 0.198924731182796 TRUE TRUE +ENSG00000046651.15 . BCM GRCh38.p13 chrX 13767273 13767273 + T T C Missense_Mutation SNP ENST00000340096.11 exon20 c.T2746C p.Y916H exonic ENSG00000046651.15 . nonsynonymous SNV ENSG00000046651.15:ENST00000340096.11:exon20:c.T2746C:p.Y916H Xp22.2 C3L-00902 . . . . . . . . . 5.19 T T B B N N N D N 0.208 D D D 0.186 0.177 0.530 0.420 T T T T T T 2.837 23.100 0.997 D . . . . . 1.000 . . . . . 5.750 3.950 2.452 0.200 -0.143 1.000 0.992 0.968 116 . . . . OFD1 209 0 50 18 0.264705882352941 TRUE TRUE +ENSG00000177689.10 . BCM GRCh38.p13 chrX 27822253 27822253 + A A C Missense_Mutation SNP ENST00000356790.2 exon3 c.A947C p.E316A exonic ENSG00000177689.10 . nonsynonymous SNV ENSG00000177689.10:ENST00000356790.2:exon3:c.A947C:p.E316A Xp21.3 C3L-00902 . . . . . . . . . 8.19 D D D D U N M T D 0.184 T T T 0.118 0.623 0.288 1.112 T T T T D T 2.171 20.600 0.992 D . . . . . 0.731 . . . . . 2.790 2.790 3.327 1.118 0.567 0.726 0.607 0.497 924 . . . . MAGEB10 203 0 109 46 0.296774193548387 TRUE TRUE +ENSG00000144034.16 . BCM GRCh38.p13 chr2 73730030 73730030 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000144034.16 ENST00000272424.11:exon5:c.442-1G>A . . 2p13.1 C3L-00902 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.114 33 0.995 D . 1.114 18.114 0.954 16.251 1.000 0.322 0.319 0.060 0.110 0.978 5.160 5.160 5.971 0.877 0.599 1.000 1.000 0.994 393 . . . . TPRKB 94 0 29 13 0.30952380952381 TRUE TRUE +ENSG00000149346.15 . BCM GRCh38.p13 chr20 10560698 10560698 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000149346.15 ENST00000334534.10:exon4:c.118-2A>T . . 20p12.2 C3L-00902 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.370 34 0.995 D . 1.118 18.337 0.981 17.710 1.000 0.106 0.106 0.084 0.063 0.964 5.910 5.910 6.610 1.312 0.756 1.000 1.000 0.986 731 . . . . SLX4IP 73 0 37 5 0.119047619047619 NA TRUE +ENSG00000117155.16 . BCM GRCh38.p13 chr1 84655904 84655904 + A A G Silent SNP ENST00000342203.7 exon11 c.T1317C p.F439F exonic ENSG00000117155.16 . synonymous SNV ENSG00000117155.16:ENST00000342203.7:exon11:c.T1317C:p.F439F 1p22.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSX2IP 132 0 70 15 0.176470588235294 TRUE NA +ENSG00000117501.14 . BCM GRCh38.p13 chr1 170971873 170971873 + G G C Silent SNP ENST00000367758.7 exon8 c.G606C p.R202R exonic ENSG00000117501.14 . synonymous SNV ENSG00000117501.14:ENST00000367758.7:exon8:c.G606C:p.R202R 1q24.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MROH9 82 0 41 15 0.267857142857143 TRUE TRUE +ENSG00000143341.12 . BCM GRCh38.p13 chr1 186166257 186166257 + C C T Silent SNP ENST00000271588.9 exon99 c.C15393T p.S5131S exonic ENSG00000143341.12 . synonymous SNV ENSG00000143341.12:ENST00000271588.9:exon99:c.C15393T:p.S5131S 1q31.1 C3L-00902 0.0013 9.617e-05 0 0.0045 0.0080 0.0007 0.0022 0.0013 rs142864872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54897504;OCCURENCE=1(large_intestine) HMCN1 340 0 250 58 0.188311688311688 TRUE TRUE +ENSG00000038219.13 . BCM GRCh38.p13 chr4 13602907 13602907 + A A T Silent SNP ENST00000040738.10 exon10 c.T3993A p.T1331T exonic ENSG00000038219.13 . synonymous SNV ENSG00000038219.13:ENST00000040738.10:exon10:c.T3993A:p.T1331T 4p15.33 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BOD1L1 180 0 92 30 0.245901639344262 TRUE TRUE +ENSG00000168214.20 . BCM GRCh38.p13 chr4 26430851 26430851 + G G A Silent SNP ENST00000342295.5 exon12 c.G1347A p.G449G exonic ENSG00000168214.20 . synonymous SNV ENSG00000168214.20:ENST00000342295.5:exon12:c.G1347A:p.G449G 4p15.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBPJ 496 2 529 130 0.197268588770865 TRUE NA +ENSG00000132840.10 . BCM GRCh38.p13 chr5 79082934 79082934 + T T C Silent SNP ENST00000255192.8 exon5 c.T576C p.C192C exonic ENSG00000132840.10 . synonymous SNV ENSG00000132840.10:ENST00000255192.8:exon5:c.T576C:p.C192C 5q14.1 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BHMT2 210 0 145 46 0.240837696335079 TRUE TRUE +ENSG00000253846.2 . BCM GRCh38.p13 chr5 141415503 141415503 + G G A Silent SNP ENST00000398610.2 exon1 c.G2328A p.Q776Q exonic ENSG00000253846.2 . synonymous SNV ENSG00000253846.2:ENST00000398610.2:exon1:c.G2328A:p.Q776Q 5q31.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA10 390 0 355 123 0.257322175732218 TRUE NA +ENSG00000112078.14 . BCM GRCh38.p13 chr6 36479605 36479605 + C C A Silent SNP ENST00000373731.7 exon5 c.C552A p.T184T exonic ENSG00000112078.14 . synonymous SNV ENSG00000112078.14:ENST00000373731.7:exon5:c.C552A:p.T184T 6p21.31 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD20 186 0 87 18 0.171428571428571 TRUE TRUE +ENSG00000158321.18 . BCM GRCh38.p13 chr7 70790408 70790408 + T T C Silent SNP ENST00000342771.10 exon19 c.T3192C p.P1064P exonic ENSG00000158321.18 . synonymous SNV ENSG00000158321.18:ENST00000342771.10:exon19:c.T3192C:p.P1064P 7q11.22 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AUTS2 103 0 118 52 0.305882352941176 TRUE TRUE +ENSG00000132294.15 . BCM GRCh38.p13 chr8 131940563 131940563 + T T G Silent SNP ENST00000254624.10 exon2 c.T75G p.P25P exonic ENSG00000132294.15 . synonymous SNV ENSG00000132294.15:ENST00000254624.10:exon2:c.T75G:p.P25P 8q24.22 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFR3A 163 0 132 43 0.245714285714286 TRUE TRUE +ENSG00000188316.15 . BCM GRCh38.p13 chr10 116871250 116871250 + G G C Silent SNP ENST00000341276.11 exon9 c.G1173C p.L391L exonic ENSG00000188316.15 . synonymous SNV ENSG00000188316.15:ENST00000341276.11:exon9:c.G1173C:p.L391L 10q25.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENO4 137 0 73 27 0.27 TRUE TRUE +ENSG00000283787.1 . BCM GRCh38.p13 chr11 1889736 1889736 + G G A Silent SNP ENST00000640310.1 exon1 c.C849T p.S283S exonic ENSG00000283787.1 . synonymous SNV ENSG00000283787.1:ENST00000640310.1:exon1:c.C849T:p.S283S 11p15.5 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRR33 35 0 41 11 0.211538461538462 TRUE NA +ENSG00000221968.9 . BCM GRCh38.p13 chr11 61875958 61875958 + C C T Silent SNP ENST00000278829.7 exon11 c.G1179A p.P393P exonic ENSG00000221968.9 . synonymous SNV ENSG00000221968.9:ENST00000278829.7:exon11:c.G1179A:p.P393P 11q12.2 C3L-00902 8.331e-06 0 0 0 0 0 0 6.059e-05 rs531494466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FADS3 268 0 298 80 0.211640211640212 TRUE NA +ENSG00000149300.10 . BCM GRCh38.p13 chr11 111926010 111926010 + G G T Silent SNP ENST00000278601.6 exon4 c.G183T p.G61G exonic ENSG00000149300.10 . synonymous SNV ENSG00000149300.10:ENST00000278601.6:exon4:c.G183T:p.G61G 11q23.1 C3L-00902 8.244e-06 0 0 0 0 1.499e-05 0 0 rs782429338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C11orf52 322 0 300 88 0.22680412371134 TRUE NA +ENSG00000139579.13 . BCM GRCh38.p13 chr12 56225449 56225449 + C C A Silent SNP ENST00000267023.9 exon3 c.C156A p.I52I exonic ENSG00000139579.13 . synonymous SNV ENSG00000139579.13:ENST00000267023.9:exon3:c.C156A:p.I52I 12q13.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NABP2 223 0 212 62 0.226277372262774 TRUE TRUE +ENSG00000100888.14 . BCM GRCh38.p13 chr14 21405823 21405823 + A A C Silent SNP ENST00000646647.2 exon15 c.T2949G p.T983T exonic ENSG00000100888.14 . synonymous SNV ENSG00000100888.14:ENST00000646647.2:exon15:c.T2949G:p.T983T 14q11.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD8 154 0 47 17 0.265625 TRUE TRUE +ENSG00000166188.2 . BCM GRCh38.p13 chr16 57998133 57998133 + G G A Silent SNP ENST00000299237.2 exon2 c.C133T p.L45L exonic ENSG00000166188.2 . synonymous SNV ENSG00000166188.2:ENST00000299237.2:exon2:c.C133T:p.L45L 16q21 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF319 41 0 56 19 0.253333333333333 TRUE TRUE +ENSG00000146872.17 . BCM GRCh38.p13 chr17 62608061 62608061 + T T C Silent SNP ENST00000326270.13 exon22 c.T2058C p.S686S exonic ENSG00000146872.17 . synonymous SNV ENSG00000146872.17:ENST00000326270.13:exon22:c.T2058C:p.S686S 17q23.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLK2 119 0 53 25 0.320512820512821 TRUE TRUE +ENSG00000105641.4 . BCM GRCh38.p13 chr19 17878039 17878039 + G G A Silent SNP ENST00000222248.4 exon7 c.G915A p.V305V exonic ENSG00000105641.4 . synonymous SNV ENSG00000105641.4:ENST00000222248.4:exon7:c.G915A:p.V305V 19p13.11 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC5A5 508 0 603 152 0.201324503311258 TRUE NA +ENSG00000188559.15 . BCM GRCh38.p13 chr20 20620526 20620526 + A A G Silent SNP ENST00000202677.12 exon11 c.T1338C p.D446D exonic ENSG00000188559.15 . synonymous SNV ENSG00000188559.15:ENST00000202677.12:exon11:c.T1338C:p.D446D 20p11.23 C3L-00902 . . . . . . . . rs536517292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RALGAPA2 133 0 56 4 0.0666666666666667 TRUE NA +ENSG00000131044.17 . BCM GRCh38.p13 chr20 31919906 31919906 + C C T Silent SNP ENST00000535842.5 exon6 c.C547T p.L183L exonic ENSG00000131044.17 . synonymous SNV ENSG00000131044.17:ENST00000535842.5:exon6:c.C547T:p.L183L 20q11.21 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTLL9 72 0 84 18 0.176470588235294 TRUE TRUE +ENSG00000069424.15 . BCM GRCh38.p13 chr1 6091271 6091271 + T T - Intron SNP NA NA NA NA intronic ENSG00000069424.15 . . . 1p36.31 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNAB2 272 0 208 46 0.181102362204724 TRUE TRUE +ENSG00000143621.17 . BCM GRCh38.p13 chr1 153667508 153667508 + T T C Intron SNP NA NA NA NA intronic ENSG00000143621.17 . . . 1q21.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ILF2 117 0 75 26 0.257425742574257 TRUE TRUE +ENSG00000115827.14 . BCM GRCh38.p13 chr2 171484724 171484724 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000115827.14 ENST00000375255.8:c.*3610C>T . . 2q31.1 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCAF17 431 0 138 32 0.188235294117647 TRUE NA +ENSG00000254535.4 . BCM GRCh38.p13 chr4 134201117 134201117 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000254535.4 ENST00000421491.4:c.-98C>T . . 4q28.3 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PABPC4L 307 0 316 115 0.266821345707657 TRUE NA +ENSG00000184903.10 . BCM GRCh38.p13 chr7 111392019 111392019 + C C T Intron SNP NA NA NA NA intronic ENSG00000184903.10 . . . 7q31.1 C3L-00902 . . . . . . . . . 1.13 D . . . . N . . N 0.051 T T T 0.018 0.188 0.493 . . T T T T T 0.271 3.951 0.898 N N -0.723 0.774 -0.931 0.579 0.004 0.554 0.588 0.514 0.613 . 1.600 1.600 -0.100 -0.281 -0.107 0.002 0.001 0.001 693 . . . . IMMP2L 81 0 34 14 0.291666666666667 TRUE TRUE +ENSG00000139410.15 . BCM GRCh38.p13 chr12 113425753 113425758 + GAGGCC GAGGCC - Intron DEL NA NA NA NA intronic ENSG00000139410.15 . . . 12q24.13 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SDSL 152 0 170 46 0.212962962962963 TRUE NA +ENSG00000139410.15 . BCM GRCh38.p13 chr12 113425763 113425763 + T T G Intron SNP NA NA NA NA intronic ENSG00000139410.15 . . . 12q24.13 C3L-00902 . . . . . . . . . 2.13 D . . . . D . T N . T T . 0.006 0.252 0.107 . . T T T T T 0.156 2.640 0.295 N N -1.007 0.397 -1.258 0.238 0.389 0.422 0.596 0.172 0.692 . 0.225 -0.451 -0.359 -0.400 -0.545 0.001 0.001 0.001 884 . . . . SDSL 135 0 154 48 0.237623762376238 NA TRUE +ENSG00000155465.19 . BCM GRCh38.p13 chr14 22815654 22815654 + T T G 5'Flank SNP NA NA NA NA upstream ENSG00000155465.19 dist=219 . . 14q11.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC7A7 250 1 194 62 0.2421875 TRUE NA +ENSG00000196364.9 . BCM GRCh38.p13 chr16 1261417 1261417 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000196364.9 . . . 16p13.3 C3L-00902 . . . . . . . . rs533729880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS29P 251 0 304 80 0.208333333333333 TRUE NA +ENSG00000249459.10 . BCM GRCh38.p13 chr17 18662582 18662582 + - NA A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000249459.10 . . . 17p11.2 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF286B NA NA NA NA NA NA NA +ENSG00000076944.16 . BCM GRCh38.p13 chr19 7640487 7640488 + TG TG - Intron DEL NA NA NA NA intronic ENSG00000076944.16;ENSG00000268400.5 . . . 19p13.2 C3L-00902 0.0014 0.0024 0 0.0132 0 0.0017 0 0.0011 rs761652722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STXBP2 289 1 255 71 0.217791411042945 TRUE NA +ENSG00000102054.18 . BCM GRCh38.p13 chrX 16869632 16869632 + C C A Intron SNP NA NA NA NA intronic ENSG00000102054.18 . . . Xp22.2 C3L-00902 . . . . . . . . . 3.5 . . . . N A . . . 0.310 . . . . . . . . . D D . . 4.017 27.100 0.992 N . . . . . 1.000 . . . . . 3.660 0.884 -0.339 0.100 0.594 0.003 0.332 0.736 318 . . . . RBBP7 62 0 73 21 0.223404255319149 TRUE TRUE +ENSG00000099290.17 . BCM GRCh38.p13 chr10 50106380 50106381 + TA TA GC Unknown MNP ENST00000282633.10 exon19 c.1784_1785delinsGC p.L595R exonic ENSG00000099290.17 . nonframeshift substitution ENSG00000099290.17:ENST00000282633.10:exon19:c.1784_1785delinsGC:p.L595R 10q11.23 C3L-00902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WASHC2A 467 0 229 62 0.213058419243986 NA TRUE +ENSG00000131697.18 . BCM GRCh38.p13 chr1 5907216 5907216 + T T C Missense_Mutation SNP ENST00000378156.9 exon13 c.A1510G p.I504V exonic ENSG00000131697.18 . nonsynonymous SNV ENSG00000131697.18:ENST00000378156.9:exon13:c.A1510G:p.I504V 1p36.31 C3L-00907 5.578e-05 0 0 0 0 0 0 0.0003 rs754236740 2.20 T T B B N N N D N 0.074 T T D 0.145 0.220 0.542 0.057 T T T T T T -0.045 1.078 0.611 N N -1.209 0.221 -1.155 0.322 0.633 0.706 0.709 0.710 0.655 . 5.500 3.440 0.010 -0.700 -1.203 0.006 0.005 0.490 934 . . . . NPHP4 56 0 72 4 0.0526315789473684 TRUE NA +ENSG00000164010.15 . BCM GRCh38.p13 chr1 42843182 42843182 + C C A Missense_Mutation SNP ENST00000372517.8 exon12 c.C1378A p.P460T exonic ENSG00000164010.15 . nonsynonymous SNV ENSG00000164010.15:ENST00000372517.8:exon12:c.C1378A:p.P460T 1p34.2 C3L-00907 . . . . . . . . . 4.19 D D D P N N L T N 0.136 T T D 0.153 0.231 0.606 0.320 T T T T T T 1.644 16.660 0.995 N . -0.194 1.893 -0.304 1.555 0.694 0.615 0.634 0.659 0.636 . 5.000 0.950 -0.173 1.026 0.549 0.001 0.802 0.122 661 . . . . ERMAP 96 0 54 4 0.0689655172413793 NA TRUE +ENSG00000143033.18 . BCM GRCh38.p13 chr1 93118424 93118441 + ATGCTATTTGGAGACAGG ATGCTATTTGGAGACAGG - Frame_Shift_Del DEL ENST00000370298.9 exon7 c.712_728del p.M238Ifs*39 exonic ENSG00000143033.18 . frameshift deletion ENSG00000143033.18:ENST00000370298.9:exon7:c.712_728del:p.M238Ifs*39 1p22.1 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTF2 112 0 33 11 0.25 TRUE TRUE +ENSG00000243480.7 . BCM GRCh38.p13 chr1 103623885 103623885 + G G A Missense_Mutation SNP ENST00000622339.4 exon9 c.G1121A p.G374E exonic ENSG00000243480.7 . nonsynonymous SNV ENSG00000243480.7:ENST00000622339.4:exon9:c.G1121A:p.G374E 1p21.1 C3L-00907 . . . . . . . . . 17.19 D D D D D D H . D 0.920 D D T 0.526 0.737 0.634 3.576 T D D D D D 4.149 28.200 0.996 D D 0.725 7.478 0.546 5.603 0.974 0.554 0.588 0.574 0.564 . 2.940 2.940 9.317 1.040 0.327 1.000 0.752 0.219 796 Glycosyl_hydrolase,_family_13,_catalytic_domain . . . AMY2A 231 0 93 12 0.114285714285714 NA TRUE +ENSG00000143157.11 . BCM GRCh38.p13 chr1 166850222 166850222 + T T A Missense_Mutation SNP ENST00000367875.1 exon5 c.T1643A p.L548Q exonic ENSG00000143157.11 . nonsynonymous SNV ENSG00000143157.11:ENST00000367875.1:exon5:c.T1643A:p.L548Q 1q24.1 C3L-00907 . . . . . . . . . 9.20 D D D D N D L T D 0.777 T T T 0.273 0.629 0.712 2.032 T T D T D T 3.921 26.500 0.995 D N 0.453 4.692 0.479 4.972 0.826 0.707 0.702 0.702 0.714 . 5.220 5.220 2.498 1.138 0.665 0.822 0.998 0.998 613 DDE_superfamily_endonuclease_domain . . . POGK 146 0 121 33 0.214285714285714 TRUE TRUE +ENSG00000117475.14 . BCM GRCh38.p13 chr1 169376749 169376749 + A A G Missense_Mutation SNP ENST00000367808.8 exon3 c.A238G p.R80G exonic ENSG00000117475.14 . nonsynonymous SNV ENSG00000117475.14:ENST00000367808.8:exon3:c.A238G:p.R80G 1q24.2 C3L-00907 . . . . . . . . . 14.20 D D D D D D M T D 0.896 T T D 0.605 0.819 0.688 0.631 T T D D D D 3.669 25.300 0.998 D N 0.485 4.920 0.414 4.463 0.210 0.707 0.725 0.659 0.714 . 5.400 3.070 1.937 1.312 0.756 0.988 0.999 0.999 492 . . . . BLZF1 157 0 57 15 0.208333333333333 TRUE TRUE +ENSG00000162702.8 . BCM GRCh38.p13 chr1 200409219 200409219 + G G C Missense_Mutation SNP ENST00000367353.2 exon2 c.C487G p.L163V exonic ENSG00000162702.8 . nonsynonymous SNV ENSG00000162702.8:ENST00000367353.2:exon2:c.C487G:p.L163V 1q32.1 C3L-00907 . . . . . . . . . 4.20 T T B B N D L T N 0.250 T T D 0.021 0.441 0.043 0.521 T T T T D T 2.157 20.500 0.971 D N -0.003 2.502 0.180 3.087 1.000 0.733 0.672 0.601 0.658 . 5.040 5.040 2.650 1.176 0.676 1.000 1.000 0.995 735 . . . . ZNF281 407 0 418 114 0.214285714285714 TRUE TRUE +ENSG00000136634.7 . BCM GRCh38.p13 chr1 206770985 206770985 + G G C Missense_Mutation SNP ENST00000423557.1 exon3 c.C300G p.N100K exonic ENSG00000136634.7 . nonsynonymous SNV ENSG00000136634.7:ENST00000423557.1:exon3:c.C300G:p.N100K 1q32.1 C3L-00907 . . . . . . . . . 1.20 T T P B N N M T N 0.060 T T T 0.077 0.518 0.703 0.183 T T T T T T 1.415 15.180 0.939 N N -0.424 1.331 -0.424 1.329 1.000 0.616 0.522 0.575 0.530 . 5.460 0.207 -0.190 0.169 0.676 0.000 0.874 0.880 665 . . . . IL10 359 0 295 82 0.217506631299735 TRUE TRUE +ENSG00000221888.4 . BCM GRCh38.p13 chr1 247758046 247758046 + C C G Missense_Mutation SNP ENST00000641256.1 exon2 c.G361C p.D121H exonic ENSG00000221888.4 . nonsynonymous SNV ENSG00000221888.4:ENST00000641256.1:exon2:c.G361C:p.D121H 1q44 C3L-00907 . . . . . . . . . 10.19 D D D D . D H T D 0.605 T T T 0.220 0.574 0.583 0.128 T T D T D T 2.668 22.800 0.995 D N 0.700 7.120 0.518 5.326 0.994 0.487 0.574 0.574 0.564 . 3.190 3.190 5.976 0.618 0.567 1.000 0.033 0.007 958 GPCR,_rhodopsin-like,_7TM . . . OR1C1 184 0 62 31 0.333333333333333 TRUE TRUE +ENSG00000221888.4 . BCM GRCh38.p13 chr1 247758360 247758360 + C C A Missense_Mutation SNP ENST00000641256.1 exon2 c.G47T p.G16V exonic ENSG00000221888.4 . nonsynonymous SNV ENSG00000221888.4:ENST00000641256.1:exon2:c.G47T:p.G16V 1q44 C3L-00907 . . . . . . . . . 7.19 D D P P . D H T D 0.447 T T T 0.122 0.778 0.403 0.018 T T T T D D 1.834 17.980 0.994 N N 0.148 3.081 -0.017 2.301 0.000 0.487 0.574 0.574 0.564 . 3.030 3.030 1.700 0.618 0.569 0.008 0.286 0.235 958 . . . . OR1C1 158 0 59 17 0.223684210526316 TRUE TRUE +ENSG00000163795.14 . BCM GRCh38.p13 chr2 27378024 27378024 + T T C Missense_Mutation SNP ENST00000323703.11 exon4 c.A1147G p.S383G exonic ENSG00000163795.14 . nonsynonymous SNV ENSG00000163795.14:ENST00000323703.11:exon4:c.A1147G:p.S383G 2p23.3 C3L-00907 . . . . . . . . . 9.20 D D B B D D L T D 0.609 T T T 0.169 0.349 0.317 0.251 D T T T D T 3.238 24.000 0.982 D D 0.114 2.942 0.198 3.175 1.000 0.672 0.702 0.702 0.711 . 5.290 5.290 6.271 1.138 0.665 1.000 0.992 0.974 333 Zinc_finger_C2H2-type . . . ZNF513 168 0 106 42 0.283783783783784 TRUE TRUE +ENSG00000115216.14 . BCM GRCh38.p13 chr2 27441776 27441778 + TAC TAC - In_Frame_Del DEL ENST00000379852.8 exon18 c.1572_1574del p.T525del exonic ENSG00000115216.14 . nonframeshift deletion ENSG00000115216.14:ENST00000379852.8:exon18:c.1572_1574del:p.T525del 2p23.3 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRBP1 82 0 64 14 0.179487179487179 TRUE TRUE +ENSG00000116005.12 . BCM GRCh38.p13 chr2 70275580 70275580 + G G C Missense_Mutation SNP ENST00000433351.7 exon5 c.G773C p.C258S exonic ENSG00000116005.12 . nonsynonymous SNV ENSG00000116005.12:ENST00000433351.7:exon5:c.G773C:p.C258S 2p13.3 C3L-00907 . . . . . . . . . 14.20 D D D D D D M T D 0.818 T T T 0.415 0.846 0.543 0.497 T T D D D D 4.323 29.800 0.974 D D 0.805 8.877 0.802 10.178 1.000 0.707 0.725 0.725 0.714 . 5.300 5.300 9.518 1.176 0.676 1.000 1.000 1.000 472 Prenylcysteine_lyase . . . PCYOX1 265 0 88 31 0.260504201680672 TRUE TRUE +ENSG00000115419.13 . BCM GRCh38.p13 chr2 190930503 190930503 + A A G Missense_Mutation SNP ENST00000320717.8 exon13 c.A1492G p.M498V exonic ENSG00000115419.13 . nonsynonymous SNV ENSG00000115419.13:ENST00000320717.8:exon13:c.A1492G:p.M498V 2q32.2 C3L-00907 . . . . . . . . . 6.20 T T B B D D N T N 0.310 T T T 0.243 0.540 0.571 1.572 T T T T D D 2.214 21.000 0.913 D D -0.650 0.898 -0.385 1.399 1.000 0.706 0.725 0.710 0.714 . 5.840 4.670 3.001 1.312 0.691 1.000 1.000 0.997 530 . . . . GLS 187 0 73 33 0.311320754716981 TRUE TRUE +ENSG00000172478.18 . BCM GRCh38.p13 chr2 240888638 240888638 + A A T Missense_Mutation SNP ENST00000388934.5 exon4 c.T905A p.L302Q exonic ENSG00000172478.18 . nonsynonymous SNV ENSG00000172478.18:ENST00000388934.5:exon4:c.T905A:p.L302Q 2q37.3 C3L-00907 . . . . . . . . . 11.18 D D D D N D . T D 0.929 T T T 0.364 0.577 0.351 0.416 . T D D D T 3.645 25.200 0.994 D D 0.493 4.984 0.392 4.305 1.000 0.649 0.547 0.596 0.613 . 4.190 4.190 6.059 1.288 0.662 1.000 0.993 0.265 970 . . . . MAB21L4 59 0 48 12 0.2 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142113 10142113 + T T C Missense_Mutation SNP ENST00000256474.3 exon1 c.T266C p.L89P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T266C:p.L89P 3p25.3 C3L-00907 . . . . . . . . rs5030807 18.20 D D D D D D L D D 0.929 D D D 0.931 0.886 0.997 1.374 D D D D D T 4.549 32 0.999 D D 0.549 5.436 0.546 5.602 1.000 0.442 0.522 0.522 0.373 . 5.060 5.060 4.903 0.971 0.576 1.000 0.990 0.925 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543561;OCCURENCE=10(kidney),1(pancreas),1(lung) VHL 479 1 357 160 0.309477756286267 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52679662 52679668 + CCGCTGA CCGCTGA - Frame_Shift_Del DEL ENST00000296302.11 exon1 c.44_50del p.V15Gfs*28 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon1:c.44_50del:p.V15Gfs*28 3p21.1 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 230 0 53 14 0.208955223880597 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52679672 52679672 + T T A Missense_Mutation SNP ENST00000296302.11 exon1 c.A40T p.S14C exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon1:c.A40T:p.S14C 3p21.1 C3L-00907 . . . . . . . . . 13.20 D D D D D D L T D 0.653 T T D 0.246 0.237 0.497 1.302 D T T T D D 3.967 26.800 0.990 D D 0.724 7.466 0.731 8.374 1.000 0.719 0.725 0.723 0.714 . 5.640 5.640 7.635 1.138 0.609 1.000 1.000 0.997 28 . . . . PBRM1 203 0 54 15 0.217391304347826 NA TRUE +ENSG00000144868.13 . BCM GRCh38.p13 chr3 133381039 133381039 + C C G Missense_Mutation SNP ENST00000321871.10 exon4 c.C1328G p.T443R exonic ENSG00000144868.13 . nonsynonymous SNV ENSG00000144868.13:ENST00000321871.10:exon4:c.C1328G:p.T443R 3q22.1 C3L-00907 . . . . . . . . . 7.19 D D D P N N M T D 0.397 T T T 0.116 0.272 0.139 0.753 T T T T D D 2.722 22.900 0.993 N . 0.072 2.776 -0.058 2.173 0.999 0.706 0.660 0.710 0.586 . 3.660 1.830 1.976 1.026 0.599 0.294 0.230 0.990 486 . . . . TMEM108 179 0 122 36 0.227848101265823 TRUE TRUE +ENSG00000168826.16 . BCM GRCh38.p13 chr4 4299991 4299991 + C C A Missense_Mutation SNP ENST00000337872.9 exon2 c.C46A p.H16N exonic ENSG00000168826.16 . nonsynonymous SNV ENSG00000168826.16:ENST00000337872.9:exon2:c.C46A:p.H16N 4p16.3 C3L-00907 . . . . . . . . . 8.20 D D P P N D N T N 0.477 T T D 0.209 0.434 0.670 0.519 T T T T D D 3.436 24.500 0.990 D D 0.290 3.730 0.439 4.644 1.000 0.651 0.709 0.659 0.684 . 5.440 5.440 7.719 1.026 0.599 1.000 0.990 0.996 846 BTB/POZ_domain . . . ZBTB49 163 0 84 32 0.275862068965517 TRUE TRUE +ENSG00000113615.13 . BCM GRCh38.p13 chr5 134723607 134723607 + T T - Frame_Shift_Del DEL ENST00000398844.7 exon22 c.3104delT p.I1035Kfs*2 exonic ENSG00000113615.13 . frameshift deletion ENSG00000113615.13:ENST00000398844.7:exon22:c.3104delT:p.I1035Kfs*2 5q31.1 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC24A 103 0 72 4 0.0526315789473684 NA TRUE +ENSG00000079689.14 . BCM GRCh38.p13 chr6 25652466 25652466 + G G A Nonsense_Mutation SNP ENST00000377961.3 exon1 c.G63A p.W21X exonic ENSG00000079689.14 . stopgain ENSG00000079689.14:ENST00000377961.3:exon1:c.G63A:p.W21X 6p22.2 C3L-00907 . . . . . . . . . 4.6 . . . . D A . . . 0.660 . . . . . . . . . D D . . 8.094 41 0.993 N N 0.899 11.021 0.774 9.387 1.000 0.437 0.590 0.607 0.526 . 5.290 5.290 5.480 1.176 0.676 1.000 0.998 0.913 648 EF-hand_domain;Secretagogin,_EF-hand_domain . . . SCGN 220 0 209 60 0.223048327137546 TRUE TRUE +ENSG00000151914.20 . BCM GRCh38.p13 chr6 56648666 56648666 + T T G Missense_Mutation SNP ENST00000361203.7 exon9 c.A825C p.E275D exonic ENSG00000151914.20 . nonsynonymous SNV ENSG00000151914.20:ENST00000361203.7:exon9:c.A825C:p.E275D 6p12.1 C3L-00907 . . . . . . . . . 12.17 D D . . D . M T D 0.584 T T D 0.477 0.448 0.742 . T T D D D D 3.338 24.200 0.992 D D 0.366 4.141 0.322 3.849 1.000 0.732 0.725 0.609 0.728 . 5.370 3.010 1.416 1.138 0.665 1.000 1.000 0.998 314 . . . . DST 77 0 38 8 0.173913043478261 TRUE TRUE +ENSG00000128512.23 . BCM GRCh38.p13 chr7 111895657 111895657 + A A T Missense_Mutation SNP ENST00000437633.6 exon16 c.T1542A p.D514E exonic ENSG00000128512.23 . nonsynonymous SNV ENSG00000128512.23:ENST00000437633.6:exon16:c.T1542A:p.D514E 7q31.1 C3L-00907 . . . . . . . . . 9.20 D D B B D D M T D 0.329 T T T 0.125 0.353 0.451 0.789 T T T T D D 2.565 22.600 0.992 D N 0.157 3.119 0.177 3.071 0.001 0.707 0.574 0.659 0.714 . 5.880 3.430 1.201 0.324 0.691 1.000 1.000 0.998 722 DHR-1_domain;Dedicator_of_cytokinesis_B,_C2_domain . . . DOCK4 317 2 110 34 0.236111111111111 TRUE TRUE +ENSG00000214022.11 . BCM GRCh38.p13 chr7 150372620 150372620 + T T C Missense_Mutation SNP ENST00000397281.6 exon4 c.T1379C p.V460A exonic ENSG00000214022.11 . nonsynonymous SNV ENSG00000214022.11:ENST00000397281.6:exon4:c.T1379C:p.V460A 7q36.1 C3L-00907 8.818e-06 0 0 0 0 1.612e-05 0 0 rs770215207 1.18 T T P P . N L T N 0.137 T T T 0.066 0.345 0.602 1.603 D T T T T T 1.903 18.510 0.947 N . -0.218 1.827 -0.262 1.645 1.000 0.707 0.696 0.696 0.714 . 4.110 4.110 -1.670 1.138 0.665 0.000 0.975 0.099 934 Zinc_finger_C2H2-type . . . REPIN1 263 0 203 50 0.197628458498024 TRUE NA +ENSG00000261150.3 . BCM GRCh38.p13 chr8 143869980 143869980 + G G A Missense_Mutation SNP ENST00000615648.2 exon2 c.C3274T p.R1092C exonic ENSG00000261150.3 . nonsynonymous SNV ENSG00000261150.3:ENST00000615648.2:exon2:c.C3274T:p.R1092C 8q24.3 C3L-00907 0.0022 0.0196 0.0015 0 0 0.0007 0.0014 0.0002 rs116816681 1.13 . D . . . N N . . 0.178 T T . 0.173 . 0.519 . T T T T T T 1.366 14.850 0.998 N N -0.451 1.276 -0.538 1.142 1.000 0.696 0.547 0.723 0.563 . 4.280 3.310 0.437 1.164 0.604 0.000 0.006 0.002 964 . . . ID=COSV73261940;OCCURENCE=1(oesophagus) EPPK1 105 1 105 29 0.216417910447761 TRUE NA +ENSG00000137106.18 . BCM GRCh38.p13 chr9 37429744 37429744 + C C T Missense_Mutation SNP ENST00000318158.11 exon6 c.C506T p.A169V exonic ENSG00000137106.18 . nonsynonymous SNV ENSG00000137106.18:ENST00000318158.11:exon6:c.C506T:p.A169V 9p13.2 C3L-00907 . . . . . . . . rs952908719 15.20 T T P B D D M D D 0.839 D D D 0.704 0.880 0.878 0.519 T D D D D D 3.425 24.500 0.999 D D 0.487 4.940 0.559 5.749 1.000 0.707 0.702 0.698 0.714 . 5.440 5.440 6.779 1.026 0.599 1.000 0.999 0.994 531 D-isomer_specific_2-hydroxyacid_dehydrogenase,_catalytic_domain;D-isomer_specific_2-hydroxyacid_dehydrogenase,_NAD-binding_domain . . . GRHPR 535 0 522 158 0.232352941176471 TRUE NA +ENSG00000119431.9 . BCM GRCh38.p13 chr9 113374009 113374009 + C C A Missense_Mutation SNP ENST00000238379.9 exon2 c.G346T p.G116W exonic ENSG00000119431.9 . nonsynonymous SNV ENSG00000119431.9:ENST00000238379.9:exon2:c.G346T:p.G116W 9q32 C3L-00907 . . . . . . . . . 14.20 D D D D D D M T D 0.691 D T D 0.470 0.736 0.794 0.667 T T D T D T 4.068 27.500 0.996 D D 0.755 7.968 0.668 7.194 1.000 0.646 0.696 0.571 0.711 . 5.860 4.960 2.930 1.026 0.599 0.999 0.952 0.909 855 . . . . HDHD3 213 0 244 17 0.0651340996168582 TRUE TRUE +ENSG00000148357.16 . BCM GRCh38.p13 chr9 130351536 130351536 + C C A Missense_Mutation SNP ENST00000624552.3 exon30 c.C4541A p.P1514Q exonic ENSG00000148357.16 . nonsynonymous SNV ENSG00000148357.16:ENST00000624552.3:exon30:c.C4541A:p.P1514Q 9q34.11 C3L-00907 . . . . . . . . . 1.8 . T . . . . . . . 0.273 . . . . . 0.151 . . T T T D T 2.457 22.300 0.984 N N -0.001 2.509 0.025 2.447 0.026 0.696 0.547 0.723 0.563 . 5.170 4.210 0.175 1.013 0.599 0.005 0.982 0.986 580 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . HMCN2 110 1 113 35 0.236486486486486 TRUE TRUE +ENSG00000126883.17 . BCM GRCh38.p13 chr9 131215215 131215215 + T T C Missense_Mutation SNP ENST00000359428.10 exon31 c.T5596C p.S1866P exonic ENSG00000126883.17 . nonsynonymous SNV ENSG00000126883.17:ENST00000359428.10:exon31:c.T5596C:p.S1866P 9q34.13 C3L-00907 . . . . . . . . . 2.20 T T D P N D L T N 0.247 T T T 0.026 0.328 0.382 0.172 T T T T T T 1.077 12.540 0.970 N N -0.742 0.743 -0.700 0.899 1.000 0.706 0.702 0.710 0.617 . 5.760 0.740 0.063 0.139 0.665 0.290 0.992 0.984 351 . . . . NUP214 42 0 23 3 0.115384615384615 TRUE NA +ENSG00000152463.15 . BCM GRCh38.p13 chr10 15064454 15064454 + T T A Missense_Mutation SNP ENST00000378228.8 exon5 c.T354A p.N118K exonic ENSG00000152463.15 . nonsynonymous SNV ENSG00000152463.15:ENST00000378228.8:exon5:c.T354A:p.N118K 10p13 C3L-00907 . . . . . . . . . 3.19 D D B B D N N . N 0.137 T T T 0.158 0.592 0.014 0.017 T T T T T T 0.587 7.390 0.889 N N -1.442 0.101 -1.491 0.111 0.002 0.549 0.588 0.574 0.616 . 4.010 -3.170 -0.992 0.176 -0.286 0.000 0.003 0.005 889 Thioesterase . . . OLAH 104 0 51 4 0.0727272727272727 TRUE NA +ENSG00000119969.15 . BCM GRCh38.p13 chr10 94545952 94545952 + G G A Missense_Mutation SNP ENST00000348459.10 exon1 c.G31A p.G11S exonic ENSG00000119969.15 . nonsynonymous SNV ENSG00000119969.15:ENST00000348459.10:exon1:c.G31A:p.G11S 10q23.33 C3L-00907 . . . . . . . . . 7.20 D T D P N D L D N 0.387 D D D 0.371 0.062 0.797 0.685 T T T T T T 4.571 32 0.787 N N -0.256 1.725 -0.254 1.662 1.000 0.442 0.522 0.522 0.250 . 4.510 3.610 1.524 -0.179 -0.235 1.000 0.721 0.065 675 . . . . HELLS 361 0 409 92 0.183632734530938 TRUE TRUE +ENSG00000148824.19 . BCM GRCh38.p13 chr10 133419496 133419496 + G G A Missense_Mutation SNP ENST00000317502.11 exon10 c.G769A p.G257S exonic ENSG00000148824.19 . nonsynonymous SNV ENSG00000148824.19:ENST00000317502.11:exon10:c.G769A:p.G257S 10q26.3 C3L-00907 0.0001 0.0004 0 0.0003 0 9.809e-05 0 0 rs559297659 2.20 T T B B N N L T D 0.362 T T T 0.057 . 0.460 0.078 T T T T T T 1.719 17.160 0.992 D N -0.526 1.126 -0.491 1.217 0.139 0.707 0.702 0.644 0.714 . 5.290 3.450 1.903 0.128 -0.130 0.984 0.740 0.359 . . . . ID=COSV100448997;OCCURENCE=1(stomach) MTG1 188 1 217 75 0.256849315068493 TRUE NA +ENSG00000258588.3 . BCM GRCh38.p13 chr11 5643417 5643417 + G G C Missense_Mutation SNP ENST00000514226.5 exon8 c.G1175C p.R392T exonic ENSG00000258588.3;ENSG00000258659.6 . nonsynonymous SNV ENSG00000258659.6:ENST00000514226.5:exon8:c.G1175C:p.R392T,ENSG00000258588.3:ENST00000354852.5:exon14:c.G2237C:p.R746T 11p15.4 C3L-00907 1.648e-05 0 0 0 0.0003 0 0 0 rs780882235 2.20 D T B B N N N T D 0.115 T T T 0.059 0.618 0.240 0.093 T T T T T T -0.026 1.178 0.934 N N -1.060 0.344 -1.110 0.365 0.003 0.707 0.725 0.659 0.684 . 2.920 -0.260 -2.374 -0.101 0.618 0.000 0.094 0.737 856 0.000 . . . TRIM6-TRIM34 212 0 70 24 0.25531914893617 TRUE NA +ENSG00000149177.13 . BCM GRCh38.p13 chr11 48167223 48167223 + A A G Missense_Mutation SNP ENST00000418331.7 exon25 c.A3875G p.N1292S exonic ENSG00000149177.13 . nonsynonymous SNV ENSG00000149177.13:ENST00000418331.7:exon25:c.A3875G:p.N1292S 11p11.2 C3L-00907 . . . . . . . . . 11.19 D D D D . D L T D 0.734 T T T 0.347 0.694 0.750 0.758 T D T T D D 3.823 25.900 0.998 D D 0.691 6.991 0.701 7.768 1.000 0.732 0.744 0.710 0.613 . 5.430 5.430 8.549 1.288 0.691 1.000 0.994 0.998 144 PTP_type_protein_phosphatase;Protein-tyrosine_phosphatase,_catalytic . . . PTPRJ 110 0 55 22 0.285714285714286 TRUE TRUE +ENSG00000215009.5 . BCM GRCh38.p13 chr12 7320785 7320785 + G G A Missense_Mutation SNP ENST00000399422.4 exon6 c.G982A p.V328M exonic ENSG00000215009.5 . nonsynonymous SNV ENSG00000215009.5:ENST00000399422.4:exon6:c.G982A:p.V328M 12p13.31 C3L-00907 4.249e-05 0 0 0 0 0 0 0.0003 rs752916520 8.20 D D D D U D L T N 0.301 T T T 0.202 0.528 0.636 0.428 T T T T T D 3.968 26.800 0.998 D D 0.498 5.017 0.468 4.881 0.000 0.516 0.574 0.574 0.586 . 3.950 3.050 4.055 1.087 0.477 1.000 0.988 0.838 702 AMP-dependent_synthetase/ligase . . ID=COSV68069242;OCCURENCE=1(large_intestine) ACSM4 203 1 115 34 0.228187919463087 TRUE TRUE +ENSG00000090975.12 . BCM GRCh38.p13 chr12 122995502 122995502 + G G T Missense_Mutation SNP ENST00000320201.8 exon13 c.C1941A p.D647E exonic ENSG00000090975.12 . nonsynonymous SNV ENSG00000090975.12:ENST00000320201.8:exon13:c.C1941A:p.D647E 12q24.31 C3L-00907 . . . . . . . . . 16.20 D T D D D D M T D 0.895 D D D 0.501 0.207 0.633 1.411 T T D D D D 3.326 24.200 0.998 D D 0.333 3.955 0.288 3.649 0.916 0.646 0.588 0.645 0.655 . 4.830 3.910 2.569 0.214 0.662 1.000 0.994 0.983 240 . . . . PITPNM2 258 0 260 48 0.155844155844156 TRUE TRUE +ENSG00000100614.18 . BCM GRCh38.p13 chr14 60285693 60285693 + G G A Missense_Mutation SNP ENST00000395076.9 exon3 c.G904A p.V302M exonic ENSG00000100614.18 . nonsynonymous SNV ENSG00000100614.18:ENST00000395076.9:exon3:c.G904A:p.V302M 14q23.1 C3L-00907 . . . . . . . . rs865808535 9.20 D T B B D D M T N 0.724 T T D 0.339 0.543 0.180 1.038 T T T T D D 3.380 24.300 0.998 D D 0.478 4.868 0.625 6.550 1.000 0.732 0.725 0.710 0.728 . 6.070 6.070 10.003 1.176 0.676 1.000 1.000 0.983 489 Protein_serine/threonine_phosphatase_2C,_C-terminal . . . PPM1A 144 1 64 7 0.0985915492957746 TRUE NA +ENSG00000069956.12 . BCM GRCh38.p13 chr15 52050003 52050003 + C C G Missense_Mutation SNP ENST00000261845.7 exon3 c.C566G p.S189C exonic ENSG00000069956.12 . nonsynonymous SNV ENSG00000069956.12:ENST00000261845.7:exon3:c.C566G:p.S189C 15q21.2 C3L-00907 . . . . . . . . . 14.20 D D D D D D L T D 0.915 T T D 0.662 0.718 0.812 1.717 D T D D D T 3.982 26.900 0.993 D D 0.748 7.850 0.746 8.706 1.000 0.706 0.702 0.710 0.632 . 5.150 5.150 7.905 1.013 0.599 1.000 1.000 0.999 271 Protein_kinase_domain . . . MAPK6 315 0 98 36 0.26865671641791 TRUE TRUE +ENSG00000129925.11 . BCM GRCh38.p13 chr16 374233 374233 + C C T Missense_Mutation SNP ENST00000431232.7 exon10 c.G1743A p.M581I exonic ENSG00000129925.11 . nonsynonymous SNV ENSG00000129925.11:ENST00000431232.7:exon10:c.G1743A:p.M581I 16p13.3 C3L-00907 . . . . . . . . . 15.20 D D D D D D M T D 0.896 T T D 0.469 0.721 0.567 0.309 T T D D D D 4.018 27.100 0.997 D D 0.734 7.625 0.630 6.619 1.000 0.707 0.644 0.702 0.714 . 3.860 3.860 6.049 1.026 0.599 1.000 1.000 0.988 799 . . . . PGAP6 187 0 119 46 0.278787878787879 TRUE TRUE +ENSG00000122304.11 . BCM GRCh38.p13 chr16 11276337 11276337 + G G C Missense_Mutation SNP ENST00000241808.9 exon1 c.C34G p.R12G exonic ENSG00000122304.11 . nonsynonymous SNV ENSG00000122304.11:ENST00000241808.9:exon1:c.C34G:p.R12G 16p13.13 C3L-00907 . . . . . . . . . 3.18 D T B B N N L . D 0.091 T T T 0.062 0.495 0.140 0.241 . D T T T T 1.146 13.190 0.953 N N -1.081 0.324 -1.146 0.330 0.730 0.497 0.547 0.578 0.542 . 3.520 -0.973 0.127 0.160 0.604 0.000 0.001 0.001 911 . . . . PRM2 380 0 322 125 0.279642058165548 TRUE TRUE +ENSG00000103222.19 . BCM GRCh38.p13 chr16 16068180 16068180 + T T A Missense_Mutation SNP ENST00000399410.8 exon13 c.T1702A p.Y568N exonic ENSG00000103222.19 . nonsynonymous SNV ENSG00000103222.19:ENST00000399410.8:exon13:c.T1702A:p.Y568N 16p13.11 C3L-00907 . . . . . . . . . 19.20 D D D D D D H D D 0.917 D D D 0.813 0.659 0.979 1.386 T D D D D D 3.658 25.200 0.991 D D 0.669 6.713 0.535 5.491 1.000 0.707 0.702 0.702 0.714 . 4.460 4.460 7.991 1.137 0.663 1.000 0.738 0.414 923 ABC_transporter_type_1,_transmembrane_domain . . . ABCC1 129 0 144 45 0.238095238095238 TRUE TRUE +ENSG00000155393.13 . BCM GRCh38.p13 chr16 50102432 50102432 + G G A Missense_Mutation SNP ENST00000299192.8 exon14 c.G1917A p.M639I exonic ENSG00000155393.13 . nonsynonymous SNV ENSG00000155393.13:ENST00000299192.8:exon14:c.G1917A:p.M639I 16q12.1 C3L-00907 . . . . . . . . . 3.20 T T B B N N M T N 0.229 T T T 0.016 0.361 0.422 0.228 T T T T T D 2.185 20.800 0.952 D N -0.188 1.910 -0.049 2.200 1.000 0.722 0.699 0.609 0.714 . 5.390 3.370 0.898 1.155 0.676 1.000 1.000 0.980 564 . . . . HEATR3 111 0 28 9 0.243243243243243 TRUE TRUE +ENSG00000103241.7 . BCM GRCh38.p13 chr16 86511366 86511366 + C C T Missense_Mutation SNP ENST00000262426.6 exon1 c.C797T p.S266L exonic ENSG00000103241.7 . nonsynonymous SNV ENSG00000103241.7:ENST00000262426.6:exon1:c.C797T:p.S266L 16q24.1 C3L-00907 . . . . . . . . rs1030195503 13.20 D T P B D D L D N 0.295 D D D 0.449 0.328 0.798 . D T D T D D 2.315 21.700 0.996 D D 0.096 2.870 0.068 2.608 1.000 0.598 0.596 0.608 0.621 . 4.180 4.180 5.508 0.882 0.524 0.499 0.058 0.116 982 . . . . FOXF1 200 0 165 70 0.297872340425532 TRUE NA +ENSG00000186111.10 . BCM GRCh38.p13 chr19 3633470 3633470 + C C G Missense_Mutation SNP ENST00000335312.8 exon17 c.G1971C p.Q657H exonic ENSG00000186111.10 . nonsynonymous SNV ENSG00000186111.10:ENST00000335312.8:exon17:c.G1971C:p.Q657H 19p13.3 C3L-00907 . . . . . . . . . 3.20 T T B B N D N T N 0.363 T T D 0.090 0.057 0.450 0.432 T T T T T T 1.481 15.610 0.978 D N -0.549 1.083 -0.469 1.253 0.001 0.706 0.710 0.723 0.700 . 3.390 0.572 0.880 0.048 0.549 1.000 0.342 0.598 964 . . . . PIP5K1C 34 0 25 5 0.166666666666667 TRUE TRUE +ENSG00000188629.12 . BCM GRCh38.p13 chr19 9380812 9380812 + T T G Missense_Mutation SNP ENST00000434737.6 exon5 c.T481G p.S161A exonic ENSG00000188629.12 . nonsynonymous SNV ENSG00000188629.12:ENST00000434737.6:exon5:c.T481G:p.S161A 19p13.2 C3L-00907 . . . . . . . . . 0.16 T T . . . . L T N 0.126 T T T 0.006 0.416 0.218 0.034 T T T T T T 1.140 13.140 0.945 N N -0.723 0.774 -0.942 0.565 0.000 0.563 0.574 0.609 0.528 . 2.700 -0.999 0.679 0.805 0.587 0.000 0.016 0.010 952 Zinc_finger_C2H2-type . . . ZNF177 194 1 58 7 0.107692307692308 TRUE TRUE +ENSG00000237452.3 . BCM GRCh38.p13 chr19 45753746 45753746 + G G A Missense_Mutation SNP ENST00000457052.3 exon6 c.G514A p.A172T exonic ENSG00000237452.3 . nonsynonymous SNV ENSG00000237452.3:ENST00000457052.3:exon6:c.G514A:p.A172T 19q13.32 C3L-00907 . . . . . . . . . 5.14 T D . . . . . D N 0.055 D D D 0.173 0.116 0.396 0.001 . T T T T T 0.396 5.384 0.661 N N -0.531 1.116 -0.674 0.937 0.339 0.497 0.704 0.441 0.542 . 5.310 0.631 0.053 0.245 0.676 0.000 0.001 0.005 813 . . . . BHMG1 152 0 120 40 0.25 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53210820 53210820 + G G A Missense_Mutation SNP ENST00000375401.8 exon11 c.C1439T p.P480L exonic ENSG00000126012.12 . nonsynonymous SNV ENSG00000126012.12:ENST00000375401.8:exon11:c.C1439T:p.P480L Xp11.22 C3L-00907 . . . . . . . . rs1057518697 18.19 D D D D D D M T D 0.881 D D D 0.820 0.825 0.978 2.629 D D D D D D 4.020 27.100 0.999 D . . . . . 1.000 . . . . . 5.420 5.420 10.003 1.176 0.676 1.000 0.991 0.998 79 JmjC_domain . . ID=COSV64762787;OCCURENCE=1(kidney) KDM5C 294 0 85 82 0.491017964071856 TRUE TRUE +ENSG00000196220.16 . BCM GRCh38.p13 chr3 9060230 9060230 + C C - Splice_Site SNP NA NA NA NA splicing ENSG00000196220.16 ENST00000383836.8:exon6:c.801+1G>- . . 3p25.3 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRGAP3 435 1 186 102 0.354166666666667 TRUE TRUE +ENSG00000156218.13 . BCM GRCh38.p13 chr15 84016382 84016382 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000156218.13 ENST00000286744.10:exon25:c.4157-1G>T . . 15q25.2 C3L-00907 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.233 33 0.994 D . 0.944 12.248 0.760 9.032 0.337 0.075 0.085 0.067 0.057 0.942 4.600 4.600 4.101 1.176 0.676 1.000 0.973 0.934 635 . . . . ADAMTSL3 96 2 27 9 0.25 TRUE NA +ENSG00000167981.7 . BCM GRCh38.p13 chr16 3440805 3440805 + A A C Splice_Site SNP NA NA NA NA splicing ENSG00000167981.7 ENST00000301744.7:exon3:c.160+2T>G . . 16p13.3 C3L-00907 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 4.679 32 0.956 D . 0.705 7.188 0.445 4.696 0.013 0.106 0.105 0.126 0.063 0.804 4.070 4.070 3.025 1.302 0.756 1.000 0.482 0.067 662 . . . . ZNF597 135 0 83 5 0.0568181818181818 NA TRUE +ENSG00000150938.10 . BCM GRCh38.p13 chr2 36512387 36512387 + G G A Silent SNP ENST00000280527.7 exon10 c.G1773A p.K591K exonic ENSG00000150938.10 . synonymous SNV ENSG00000150938.10:ENST00000280527.7:exon10:c.G1773A:p.K591K 2p22.2 C3L-00907 8.241e-06 0 0 0 0 1.499e-05 0 0 rs756989756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRIM1 126 0 88 31 0.260504201680672 TRUE NA +ENSG00000158106.14 . BCM GRCh38.p13 chr8 143382553 143382553 + C C A Silent SNP ENST00000289013.11 exon15 c.C1915A p.R639R exonic ENSG00000158106.14 . synonymous SNV ENSG00000158106.14:ENST00000289013.11:exon15:c.C1915A:p.R639R 8q24.3 C3L-00907 3.867e-05 0.0004 9.794e-05 0 0 0 0 0 rs374961930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RHPN1 544 0 508 150 0.227963525835866 TRUE NA +ENSG00000134463.15 . BCM GRCh38.p13 chr10 11755491 11755491 + T T G Silent SNP ENST00000379215.9 exon4 c.T474G p.V158V exonic ENSG00000134463.15 . synonymous SNV ENSG00000134463.15:ENST00000379215.9:exon4:c.T474G:p.V158V 10p14 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ECHDC3 271 1 288 86 0.229946524064171 TRUE TRUE +ENSG00000171988.19 . BCM GRCh38.p13 chr10 63207472 63207472 + G G T Silent SNP ENST00000399262.7 exon10 c.C4197A p.I1399I exonic ENSG00000171988.19 . synonymous SNV ENSG00000171988.19:ENST00000399262.7:exon10:c.C4197A:p.I1399I 10q21.3 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JMJD1C 197 0 57 17 0.22972972972973 TRUE TRUE +ENSG00000100842.13 . BCM GRCh38.p13 chr14 23360267 23360267 + C C T Silent SNP ENST00000216733.8 exon3 c.G312A p.P104P exonic ENSG00000100842.13 . synonymous SNV ENSG00000100842.13:ENST00000216733.8:exon3:c.G312A:p.P104P 14q11.2 C3L-00907 1.695e-05 0 0 0 0 1.523e-05 0 6.888e-05 rs758419481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFS 158 0 124 47 0.274853801169591 TRUE NA +ENSG00000259288.7 . BCM GRCh38.p13 chr15 40253179 40253179 + C C T Unknown SNP NA NA NA NA exonic ENSG00000259288.7 . unknown UNKNOWN 15q15.1 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BUB1B-PAK6 171 0 184 58 0.239669421487603 TRUE NA +ENSG00000007392.16 . BCM GRCh38.p13 chr16 229283 229283 + C C T Silent SNP ENST00000293872.12 exon1 c.G57A p.R19R exonic ENSG00000007392.16 . synonymous SNV ENSG00000007392.16:ENST00000293872.12:exon1:c.G57A:p.R19R 16p13.3 C3L-00907 . . . . . . . . rs972994693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LUC7L 175 0 175 55 0.239130434782609 TRUE NA +ENSG00000120094.9 . BCM GRCh38.p13 chr17 48530695 48530695 + C C T Silent SNP ENST00000239174.7 exon1 c.G210A p.S70S exonic ENSG00000120094.9 . synonymous SNV ENSG00000120094.9:ENST00000239174.7:exon1:c.G210A:p.S70S 17q21.32 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXB1 113 0 139 16 0.103225806451613 TRUE TRUE +ENSG00000105509.11 . BCM GRCh38.p13 chr19 51719779 51719779 + C C G Silent SNP ENST00000222115.5 exon2 c.G129C p.G43G exonic ENSG00000105509.11 . synonymous SNV ENSG00000105509.11:ENST00000222115.5:exon2:c.G129C:p.G43G 19q13.41 C3L-00907 . . . . . . . . rs975588969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HAS1 447 0 471 117 0.198979591836735 TRUE NA +ENSG00000167615.16 . BCM GRCh38.p13 chr19 54454657 54454657 + C C T Silent SNP ENST00000326764.9 exon6 c.C654T p.G218G exonic ENSG00000167615.16 . synonymous SNV ENSG00000167615.16:ENST00000326764.9:exon6:c.C654T:p.G218G 19q13.42 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LENG8 170 0 118 42 0.2625 TRUE TRUE +ENSG00000126952.17 . BCM GRCh38.p13 chrX 101841929 101841929 + T T C Silent SNP ENST00000473265.3 exon3 c.A96G p.S32S exonic ENSG00000126952.17 . synonymous SNV ENSG00000126952.17:ENST00000473265.3:exon3:c.A96G:p.S32S Xq22.1 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NXF5 210 0 116 12 0.09375 NA TRUE +ENSG00000054523.17 . BCM GRCh38.p13 chr1 10303455 10303455 + A A C Intron SNP NA NA NA NA intronic ENSG00000054523.17 . . . 1p36.22 C3L-00907 . . . . . . . . . 11.16 D D D P . D . T N 0.780 D D D 0.284 0.244 0.613 . . . D T D T 2.411 22.100 0.995 D D 0.733 7.614 0.751 8.822 1.000 0.707 0.546 0.725 0.714 . 5.580 5.580 9.158 1.308 0.748 1.000 1.000 0.996 236 . . . . KIF1B 623 0 315 122 0.279176201372998 TRUE TRUE +ENSG00000182606.16 . BCM GRCh38.p13 chr3 42202788 42202788 + C C T Intron SNP NA NA NA NA intronic ENSG00000182606.16 . . . 3p22.1 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAK1 64 0 54 21 0.28 TRUE TRUE +ENSG00000136122.18 . BCM GRCh38.p13 chr13 72728168 72728168 + T T C Intron SNP NA NA NA NA intronic ENSG00000136122.18 . . . 13q21.33 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BORA 173 0 210 49 0.189189189189189 TRUE TRUE +ENSG00000129467.13 . BCM GRCh38.p13 chr14 24330299 24330299 + G G A Intron SNP NA NA NA NA intronic ENSG00000129467.13 . . . 14q12 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADCY4 120 0 91 32 0.260162601626016 TRUE NA +ENSG00000258630.3 . BCM GRCh38.p13 chr14 95409474 95409474 + A A T IGR SNP NA NA NA NA intergenic ENSG00000258630.3;ENSG00000176438.12 dist=73979;dist=8020 . . 14q32.13 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02292 70 0 26 6 0.1875 TRUE NA +ENSG00000103313.12 . BCM GRCh38.p13 chr16 3243897 3243897 + G G A Intron SNP NA NA NA NA intronic ENSG00000103313.12 . . . 16p13.3 C3L-00907 8.412e-06 0 0 0.0001 0 0 0 0 . 0.14 T T . . . N . T N 0.174 T T T 0.083 0.678 0.514 . . . T T T T 0.144 2.513 0.973 N N -0.583 1.018 -0.696 0.906 0.958 0.497 0.578 0.547 0.542 . 5.180 0.433 0.174 -0.446 -0.666 0.003 0.707 0.092 784 . . . . MEFV 481 1 328 81 0.198044009779951 TRUE NA +ENSG00000136444.10 . BCM GRCh38.p13 chr17 50480170 50480173 + ATTG ATTG - Intron DEL NA NA NA NA intronic ENSG00000136444.10 . . . 17q21.33 C3L-00907 1.581e-05 0 0 0 0 2.898e-05 0 0 rs765772428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSAD1 114 0 86 36 0.295081967213115 TRUE NA +ENSG00000286098.1 . BCM GRCh38.p13 chr19 12056304 12056304 + C C A Intron SNP NA NA NA NA intronic ENSG00000286098.1 . . . 19p13.2 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC008770.4 256 0 153 51 0.25 TRUE NA +ENSG00000198453.13 . BCM GRCh38.p13 chr19 36996381 36996381 + A A T IGR SNP NA NA NA NA intergenic ENSG00000198453.13;ENSG00000275547.1 dist=43647;dist=28505 . . 19q13.12 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF568 181 1 76 5 0.0617283950617284 NA TRUE +ENSG00000104812.15 . BCM GRCh38.p13 chr19 48968673 48968673 + A A G 3'UTR SNP NA NA NA NA UTR3 ENSG00000104812.15 ENST00000323798.8:c.*615T>C . . 19q13.33 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GYS1 593 0 441 27 0.0576923076923077 TRUE NA +ENSG00000100253.13 . BCM GRCh38.p13 chr22 50488268 50488268 + - NA A Intron SNP NA NA NA NA intronic ENSG00000100253.13 . . . 22q13.33 C3L-00907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIOX NA NA NA NA NA NA NA +ENSG00000142611.17 . BCM GRCh38.p13 chr1 3425708 3425708 + C C A Missense_Mutation SNP ENST00000270722.10 exon13 c.C3067A p.L1023M exonic ENSG00000142611.17 . nonsynonymous SNV ENSG00000142611.17:ENST00000270722.10:exon13:c.C3067A:p.L1023M 1p36.32 C3L-00908 . . . . . . . . . 11.20 D D D D U D L T N 0.853 T T D 0.359 0.750 0.589 2.499 D T T T D D 3.692 25.400 0.996 D D 0.552 5.464 0.450 4.733 0.851 0.581 0.547 0.576 0.563 . 4.020 2.820 2.673 1.023 0.595 1.000 1.000 0.995 958 Zinc_finger_C2H2-type . . . PRDM16 223 0 144 41 0.221621621621622 TRUE TRUE +ENSG00000133216.16 . BCM GRCh38.p13 chr1 22784519 22784519 + G G A Missense_Mutation SNP ENST00000400191.7 exon3 c.G254A p.R85H exonic ENSG00000133216.16 . nonsynonymous SNV ENSG00000133216.16:ENST00000400191.7:exon3:c.G254A:p.R85H 1p36.12 C3L-00908 . . . . . . . . . 15.20 D D D D D D M T D 0.941 T T T 0.558 0.838 0.751 1.533 D T D D D D 4.393 31 1.000 D D 0.934 11.966 0.891 13.365 1.000 0.732 0.588 0.744 0.714 . 5.290 5.290 9.923 1.083 0.618 1.000 1.000 0.993 473 Ephrin_receptor_ligand_binding_domain;Ephrin_type-B_receptor_2,_ligand_binding_domain . . . EPHB2 134 0 84 30 0.263157894736842 TRUE NA +ENSG00000243480.7 . BCM GRCh38.p13 chr1 103623895 103623895 + T T A Missense_Mutation SNP ENST00000622339.4 exon9 c.T1131A p.N377K exonic ENSG00000243480.7 . nonsynonymous SNV ENSG00000243480.7:ENST00000622339.4:exon9:c.T1131A:p.N377K 1p21.1 C3L-00908 . . . . . . . . . 6.19 D T B B D D M . N 0.378 T T T 0.181 0.538 0.325 2.455 T T T T D D 1.622 16.520 0.973 N N -0.464 1.248 -0.557 1.112 0.000 0.554 0.588 0.574 0.564 . 2.940 -0.884 0.558 1.009 0.321 0.234 0.670 0.190 796 Glycosyl_hydrolase,_family_13,_catalytic_domain . . . AMY2A 479 1 501 41 0.0756457564575646 NA TRUE +ENSG00000143257.12 . BCM GRCh38.p13 chr1 161235957 161235957 + A A G Missense_Mutation SNP ENST00000367982.8 exon3 c.T128C p.I43T exonic ENSG00000143257.12 . nonsynonymous SNV ENSG00000143257.12:ENST00000367982.8:exon3:c.T128C:p.I43T 1q23.3 C3L-00908 8.628e-06 0 0 0.0001 0 0 0 0 rs747349033 2.20 T T B B N N L D N 0.222 T T T 0.228 . 0.869 0.226 T D T T T T -0.053 1.038 0.517 N N -1.286 0.173 -1.244 0.248 0.998 0.554 0.588 0.537 0.530 . 5.470 -0.604 0.025 -0.481 -0.274 0.000 0.001 0.678 709 Zinc_finger,_nuclear_hormone_receptor-type . . ID=COSV63468902;OCCURENCE=1(kidney) NR1I3 73 0 86 21 0.196261682242991 TRUE TRUE +ENSG00000138075.14 . BCM GRCh38.p13 chr2 43827983 43827983 + T T G Missense_Mutation SNP ENST00000405322.8 exon5 c.A634C p.K212Q exonic ENSG00000138075.14 . nonsynonymous SNV ENSG00000138075.14:ENST00000405322.8:exon5:c.A634C:p.K212Q 2p21 C3L-00908 . . . . . . . . . 9.20 D T P P D D N T N 0.513 T T D 0.126 0.501 0.618 0.413 T D T T D D 2.951 23.300 0.794 D D -0.015 2.459 0.171 3.043 0.984 0.516 0.610 0.616 0.542 . 5.620 5.620 4.564 1.138 0.665 1.000 0.997 0.912 681 ABC_transporter-like;AAA+_ATPase_domain . . . ABCG5 443 0 339 58 0.146095717884131 TRUE TRUE +ENSG00000115524.17 . BCM GRCh38.p13 chr2 197401794 197401794 + A A C Missense_Mutation SNP ENST00000335508.11 exon16 c.T2318G p.L773R exonic ENSG00000115524.17 . nonsynonymous SNV ENSG00000115524.17:ENST00000335508.11:exon16:c.T2318G:p.L773R 2q33.1 C3L-00908 . . . . . . . . . 19.20 D D D D D D H T D 0.909 D D D 0.884 0.594 0.871 3.557 D D D D D D 4.167 28.400 0.998 D D 1.008 14.174 0.939 15.533 1.000 0.707 0.725 0.725 0.711 . 5.710 5.710 9.255 1.233 0.756 1.000 1.000 0.996 615 . . . ID=COSV59223584;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(pancreas) SF3B1 175 0 164 36 0.18 TRUE NA +ENSG00000138363.15 . BCM GRCh38.p13 chr2 215325995 215325995 + A A C Missense_Mutation SNP ENST00000236959.14 exon6 c.A388C p.T130P exonic ENSG00000138363.15 . nonsynonymous SNV ENSG00000138363.15:ENST00000236959.14:exon6:c.A388C:p.T130P 2q35 C3L-00908 . . . . . . . . . 19.20 D D D D D D H D D 0.752 D D D 0.778 0.893 0.901 0.387 T D D D D D 3.995 26.900 0.995 D D 0.639 6.341 0.489 5.063 0.996 0.707 0.702 0.725 0.714 . 5.850 4.700 5.644 1.304 0.756 1.000 0.810 0.933 741 Methylglyoxal_synthase-like_domain . . . ATIC 295 0 290 55 0.159420289855072 TRUE TRUE +ENSG00000226321.5 . BCM GRCh38.p13 chr2 240965739 240965739 + C C - Frame_Shift_Del DEL ENST00000443866.2 exon24 c.3713delC p.L1239Sfs*156 exonic ENSG00000226321.5 . frameshift deletion ENSG00000226321.5:ENST00000443866.2:exon24:c.3713delC:p.L1239Sfs*156 2q37.3 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CROCC2 57 0 77 13 0.144444444444444 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146567 10146567 + C C T Nonsense_Mutation SNP ENST00000256474.3 exon2 c.C394T p.Q132X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon2:c.C394T:p.Q132X 3p25.3 C3L-00908 . . . . . . . . rs5030813 4.6 . . . . N D . . . 0.937 . . . . . . . . . D D . . 7.580 38 0.998 D N 0.878 10.508 0.714 8.017 1.000 0.732 0.686 0.744 0.735 . 5.070 5.070 1.735 1.026 0.599 1.000 1.000 0.991 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56550839;OCCURENCE=1(soft_tissue),4(kidney),1(pancreas),1(skin) VHL 419 0 245 63 0.204545454545455 TRUE TRUE +ENSG00000154822.18 . BCM GRCh38.p13 chr3 17012090 17012090 + C C - Frame_Shift_Del DEL ENST00000615277.5 exon2 c.2744delC p.V916Wfs*18 exonic ENSG00000154822.18 . frameshift deletion ENSG00000154822.18:ENST00000615277.5:exon2:c.2744delC:p.V916Wfs*18 3p24.3 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCL2 134 0 101 24 0.192 TRUE TRUE +ENSG00000168036.18 . BCM GRCh38.p13 chr3 41236460 41236460 + C C T Missense_Mutation SNP ENST00000349496.11 exon12 c.C1915T p.P639S exonic ENSG00000168036.18 . nonsynonymous SNV ENSG00000168036.18:ENST00000349496.11:exon12:c.C1915T:p.P639S 3p22.1 C3L-00908 . . . . . . . . . 13.20 T T P B D D M T D 0.699 T T D 0.457 0.382 0.755 1.399 D D D D D D 3.296 24.100 0.998 D D 0.612 6.052 0.643 6.809 1.000 0.707 0.725 0.696 0.711 . 5.470 5.470 7.713 1.026 0.597 1.000 1.000 0.999 573 . . . . CTNNB1 370 2 310 88 0.221105527638191 TRUE NA +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52407200 52407200 + C C T Missense_Mutation SNP ENST00000460680.6 exon7 c.G554A p.G185E exonic ENSG00000163930.10 . nonsynonymous SNV ENSG00000163930.10:ENST00000460680.6:exon7:c.G554A:p.G185E 3p21.1 C3L-00908 . . . . . . . . . 20.20 D D D D D D H D D 0.930 D D D 0.866 0.962 0.962 2.832 D D D D D D 3.850 26.100 0.998 D D 1.099 17.452 1.030 20.809 1.000 0.707 0.698 0.725 0.714 . 6.050 6.050 7.867 1.026 0.599 1.000 0.994 0.998 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . . BAP1 395 0 306 74 0.194736842105263 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609841 52609841 + A A - Frame_Shift_Del DEL ENST00000296302.11 exon16 c.2039delT p.L680Pfs*6 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon16:c.2039delT:p.L680Pfs*6 3p21.1 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 120 0 86 13 0.131313131313131 NA TRUE +ENSG00000055955.17 . BCM GRCh38.p13 chr3 52823976 52823976 + A A T Missense_Mutation SNP ENST00000266041.9 exon10 c.T1200A p.N400K exonic ENSG00000055955.17 . nonsynonymous SNV ENSG00000055955.17:ENST00000266041.9:exon10:c.T1200A:p.N400K 3p21.1 C3L-00908 . . . . . . . . . 1.20 T T B B N N N D N 0.197 T T T 0.172 0.396 0.501 0.312 T T T T T T 0.747 8.882 0.395 N N -1.498 0.082 -1.474 0.118 1.000 0.554 0.588 0.496 0.621 . 4.460 0.430 0.230 -0.771 -0.793 0.018 0.070 0.025 83 von_Willebrand_factor,_type_A . . . ITIH4 48 0 25 10 0.285714285714286 TRUE TRUE +ENSG00000014257.16 . BCM GRCh38.p13 chr3 132345038 132345038 + G G A Missense_Mutation SNP ENST00000336375.10 exon7 c.G760A p.E254K exonic ENSG00000014257.16 . nonsynonymous SNV ENSG00000014257.16:ENST00000336375.10:exon7:c.G760A:p.E254K 3q22.1 C3L-00908 . . . . . . . . . 10.20 D T D P D D M T D 0.525 T T T 0.158 0.548 0.258 0.516 T T T T D D 3.860 26.100 0.999 D D 0.578 5.710 0.611 6.363 1.000 0.603 0.610 0.602 0.663 . 5.580 5.580 1.948 1.176 0.676 1.000 1.000 1.000 288 . . . . ACP3 122 0 167 51 0.23394495412844 TRUE TRUE +ENSG00000152952.12 . BCM GRCh38.p13 chr3 146071422 146071422 + - NA CCTAGAAACAA Frame_Shift_Ins INS ENST00000360060.7 exon17 c.1786_1787insTTGTTTCTAGG p.D596Vfs*22 exonic ENSG00000152952.12 . frameshift insertion ENSG00000152952.12:ENST00000360060.7:exon17:c.1786_1787insTTGTTTCTAGG:p.D596Vfs*22 3q24 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLOD2 NA NA NA NA NA NA NA +ENSG00000114805.17 . BCM GRCh38.p13 chr3 155554187 155554187 + C C A Missense_Mutation SNP ENST00000340059.11 exon8 c.G1043T p.W348L exonic ENSG00000114805.17 . nonsynonymous SNV ENSG00000114805.17:ENST00000340059.11:exon8:c.G1043T:p.W348L 3q25.31 C3L-00908 . . . . . . . . . 19.20 D D D D D D H T D 0.936 D D D 0.749 0.734 0.904 1.564 D D D D D D 4.121 27.900 0.989 D D 1.066 16.137 0.972 17.249 1.000 0.707 0.596 0.725 0.564 . 5.620 5.620 7.772 1.026 0.599 1.000 1.000 0.997 713 Phosphatidylinositol-specific_phospholipase_C,_X_domain . . . PLCH1 93 0 95 20 0.173913043478261 TRUE TRUE +ENSG00000173905.9 . BCM GRCh38.p13 chr3 168025055 168025055 + T T C Missense_Mutation SNP ENST00000470487.6 exon13 c.A1664G p.N555S exonic ENSG00000173905.9 . nonsynonymous SNV ENSG00000173905.9:ENST00000470487.6:exon13:c.A1664G:p.N555S 3q26.2 C3L-00908 . . . . . . . . . 12.19 D D D D D D M . D 0.713 T T T 0.374 0.252 0.705 0.405 T T T T D D 3.853 26.100 0.999 D D 0.632 6.263 0.634 6.674 1.000 0.745 0.732 0.744 0.649 . 6.000 6.000 6.426 1.137 0.664 1.000 0.998 0.996 799 . . . . GOLIM4 123 0 143 32 0.182857142857143 TRUE TRUE +ENSG00000197948.11 . BCM GRCh38.p13 chr5 141645812 141645814 + GCC GCC - In_Frame_Del DEL ENST00000435817.7 exon13 c.1268_1270del p.R423del exonic ENSG00000197948.11 . nonframeshift deletion ENSG00000197948.11:ENST00000435817.7:exon13:c.1268_1270del:p.R423del 5q31.3 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FCHSD1 128 0 179 20 0.100502512562814 TRUE TRUE +ENSG00000204560.10 . BCM GRCh38.p13 chr6 30656684 30656684 + C C T Missense_Mutation SNP ENST00000376442.8 exon14 c.G2224A p.A742T exonic ENSG00000204560.10 . nonsynonymous SNV ENSG00000204560.10:ENST00000376442.8:exon14:c.G2224A:p.A742T 6p21.33 C3L-00908 . . . . . . . . . 7.19 D T P P D D L T N 0.715 T T D 0.316 0.402 0.548 0.578 T T T T D . 2.853 23.100 0.999 D D 0.570 5.628 0.616 6.426 1.000 0.732 0.702 0.744 0.714 . 5.060 5.060 7.695 1.026 0.599 1.000 0.999 0.990 851 Helicase,_C-terminal . . ID=COSV53312842;OCCURENCE=2(thyroid) DHX16 249 0 198 45 0.185185185185185 TRUE TRUE +ENSG00000204396.11 . BCM GRCh38.p13 chr6 31776566 31776566 + G G - Frame_Shift_Del DEL ENST00000375688.5 exon2 c.214delC p.L72Ffs*33 exonic ENSG00000204396.11 . frameshift deletion ENSG00000204396.11:ENST00000375688.5:exon2:c.214delC:p.L72Ffs*33 6p21.33 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA7 63 0 49 7 0.125 TRUE TRUE +ENSG00000204396.11 . BCM GRCh38.p13 chr6 31776574 31776574 + C C T Missense_Mutation SNP ENST00000375688.5 exon2 c.G206A p.R69H exonic ENSG00000204396.11 . nonsynonymous SNV ENSG00000204396.11:ENST00000375688.5:exon2:c.G206A:p.R69H 6p21.33 C3L-00908 . . . . . . . . . 4.19 D D B B N N M T N 0.093 T T T 0.034 0.322 0.092 0.929 T T T T D . 1.085 12.630 0.998 N N -0.704 0.807 -0.730 0.857 1.000 0.646 0.617 0.645 0.613 . 5.050 3.280 0.548 1.026 0.599 0.000 0.004 0.001 895 . . . . VWA7 61 0 50 8 0.137931034482759 TRUE NA +ENSG00000079841.18 . BCM GRCh38.p13 chr6 72259051 72259051 + G G A Missense_Mutation SNP ENST00000521978.5 exon18 c.G2993A p.R998Q exonic ENSG00000079841.18 . nonsynonymous SNV ENSG00000079841.18:ENST00000521978.5:exon18:c.G2993A:p.R998Q 6q13 C3L-00908 . . . . . . . . . 7.20 D T P B D D L T N 0.380 T T T 0.112 0.135 0.502 0.407 T T T T D D 2.854 23.100 0.999 D D 0.353 4.064 0.442 4.673 0.999 0.638 0.574 0.653 0.613 . 5.410 5.410 5.437 1.176 0.676 1.000 0.997 0.932 892 . . . ID=COSV53450436;OCCURENCE=1(urinary_tract),1(lung),1(upper_aerodigestive_tract) RIMS1 212 0 185 41 0.18141592920354 TRUE TRUE +ENSG00000135334.9 . BCM GRCh38.p13 chr6 87701459 87701459 + G G T Missense_Mutation SNP ENST00000257787.6 exon1 c.C226A p.L76I exonic ENSG00000135334.9 . nonsynonymous SNV ENSG00000135334.9:ENST00000257787.6:exon1:c.C226A:p.L76I 6q15 C3L-00908 . . . . . . . . . 7.20 D T B B N D L T N 0.388 T T D 0.073 0.281 0.256 0.839 D T T T D T 3.134 23.700 0.972 D D -0.279 1.666 -0.210 1.762 1.000 0.442 0.522 0.522 0.562 . 4.380 2.530 4.837 1.101 0.526 1.000 1.000 0.997 725 . . . . AKIRIN2 101 0 80 19 0.191919191919192 TRUE TRUE +ENSG00000111911.7 . BCM GRCh38.p13 chr6 125966927 125966927 + C C T Missense_Mutation SNP ENST00000229633.7 exon2 c.C242T p.A81V exonic ENSG00000111911.7 . nonsynonymous SNV ENSG00000111911.7:ENST00000229633.7:exon2:c.C242T:p.A81V 6q22.32 C3L-00908 . . . . . . . . . 18.20 D D D D D D M D D 0.317 D D D 0.781 0.843 0.884 0.192 T D D D D D 2.525 22.500 0.999 D N 0.480 4.881 0.411 4.440 1.000 0.732 0.744 0.710 0.613 . 5.990 4.230 2.924 0.115 -0.186 0.992 0.982 0.954 802 HIT-like_domain . . . HINT3 175 0 170 32 0.158415841584158 TRUE TRUE +ENSG00000164744.13 . BCM GRCh38.p13 chr7 48007271 48007271 + T T G Missense_Mutation SNP ENST00000297325.9 exon5 c.A386C p.Q129P exonic ENSG00000164744.13 . nonsynonymous SNV ENSG00000164744.13:ENST00000297325.9:exon5:c.A386C:p.Q129P 7p12.3 C3L-00908 . . . . . . . . . 9.20 D D D D N D L T D 0.688 T T T 0.172 0.463 0.535 0.397 T T T T D T 3.673 25.300 0.994 D D 0.413 4.423 0.414 4.457 0.922 0.497 0.590 0.547 0.542 . 5.560 5.560 3.546 1.138 0.665 1.000 1.000 0.912 754 . . . . SUN3 124 0 136 37 0.213872832369942 TRUE TRUE +ENSG00000004866.20 . BCM GRCh38.p13 chr7 117119576 117119587 + TATTTTCGCAAA TATTTTCGCAAA - In_Frame_Del DEL ENST00000265437.9 exon3 c.250_261del p.F85_Y88del exonic ENSG00000004866.20 . nonframeshift deletion ENSG00000004866.20:ENST00000265437.9:exon3:c.250_261del:p.F85_Y88del 7q31.2 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ST7 180 0 144 42 0.225806451612903 TRUE TRUE +ENSG00000221989.2 . BCM GRCh38.p13 chr7 144110378 144110378 + C C T Nonsense_Mutation SNP ENST00000408979.2 exon1 c.C796T p.R266X exonic ENSG00000221989.2 . stopgain ENSG00000221989.2:ENST00000408979.2:exon1:c.C796T:p.R266X 7q35 C3L-00908 2.485e-05 0 0 0.0001 0 2.997e-05 0 0 rs536132673 3.6 . . . . U D . . . 0.027 . . . . . . . . . D D . . 5.238 33 0.952 N N 0.065 2.751 -0.331 1.501 0.002 0.526 0.574 0.616 0.564 . 3.470 1.610 -2.652 0.051 -0.199 0.000 0.001 0.003 900 GPCR,_rhodopsin-like,_7TM . . ID=COSV68872204;OCCURENCE=1(liver) OR2A2 236 0 290 63 0.178470254957507 NA TRUE +ENSG00000172728.16 . BCM GRCh38.p13 chr8 33389466 33389466 + A A G Missense_Mutation SNP ENST00000327671.10 exon4 c.T709C p.Y237H exonic ENSG00000172728.16 . nonsynonymous SNV ENSG00000172728.16:ENST00000327671.10:exon4:c.T709C:p.Y237H 8p12 C3L-00908 . . . . . . . . . 1.20 T T B B N N N T N 0.173 T T T 0.071 0.519 0.300 0.035 T T T T T T 2.070 19.790 0.634 D N -0.819 0.628 -0.712 0.883 0.003 0.706 0.654 0.710 0.636 . 5.170 1.380 2.071 1.312 0.754 0.928 0.938 0.869 786 . . . . FUT10 147 0 249 17 0.0639097744360902 NA TRUE +ENSG00000167904.15 . BCM GRCh38.p13 chr8 55740155 55740155 + C C T Missense_Mutation SNP ENST00000434581.7 exon8 c.G952A p.A318T exonic ENSG00000167904.15 . nonsynonymous SNV ENSG00000167904.15:ENST00000434581.7:exon8:c.G952A:p.A318T 8q12.1 C3L-00908 . . . . . . . . . 13.19 D D D D D D M . D 0.849 T T T 0.261 0.520 0.138 0.933 T T D T D D 4.064 27.500 0.997 D D 0.564 5.575 0.530 5.447 0.715 0.651 0.709 0.651 0.684 . 5.110 4.230 6.661 1.000 0.599 1.000 1.000 0.997 754 . . . . TMEM68 172 0 136 28 0.170731707317073 TRUE TRUE +ENSG00000153310.19 . BCM GRCh38.p13 chr8 129849328 129849328 + A A C Missense_Mutation SNP ENST00000519824.6 exon10 c.T755G p.F252C exonic ENSG00000153310.19 . nonsynonymous SNV ENSG00000153310.19:ENST00000519824.6:exon10:c.T755G:p.F252C 8q24.21 C3L-00908 . . . . . . . . . 16.20 D D D D D D M T D 0.902 T T D 0.701 0.845 0.468 2.740 D T D D D D 4.665 32 0.996 D D 0.907 11.226 0.872 12.590 1.000 0.732 0.744 0.710 0.635 . 5.850 5.850 9.294 1.312 0.756 1.000 1.000 0.998 892 . . . . CYRIB 120 1 133 37 0.217647058823529 TRUE NA +ENSG00000188152.12 . BCM GRCh38.p13 chr9 96932223 96932223 + G G T Missense_Mutation SNP ENST00000372322.3 exon2 c.G518T p.G173V exonic ENSG00000188152.12 . nonsynonymous SNV ENSG00000188152.12:ENST00000372322.3:exon2:c.G518T:p.G173V 9q22.33 C3L-00908 . . . . . . . . . 0.20 T T B B N N N T N 0.105 T T T 0.011 0.082 0.040 . T T T T T T -0.203 0.504 0.684 N N -1.340 0.144 -1.438 0.133 0.000 0.615 0.551 0.659 0.613 . 1.030 -0.248 -1.009 -0.208 0.484 0.000 0.001 0.003 803 Nuclear_Testis__protein,_N-terminal . . . NUTM2G 616 0 672 65 0.0881953867028494 NA TRUE +ENSG00000167114.13 . BCM GRCh38.p13 chr9 128345426 128345426 + G G A Missense_Mutation SNP ENST00000300456.5 exon3 c.G433A p.G145S exonic ENSG00000167114.13 . nonsynonymous SNV ENSG00000167114.13:ENST00000300456.5:exon3:c.G433A:p.G145S 9q34.11 C3L-00908 . . . . . . . . . 16.20 D D D D D D M T D 0.952 T T D 0.614 0.726 0.663 0.959 T D D D D D 4.233 29.000 0.998 D D 0.763 8.094 0.646 6.851 1.000 0.737 0.654 0.733 0.714 . 5.470 4.550 9.602 1.172 0.672 1.000 1.000 0.995 329 Lipocalin_family_conserved_site;AMP-dependent_synthetase/ligase . . . SLC27A4 178 0 171 18 0.0952380952380952 TRUE TRUE +ENSG00000136802.11 . BCM GRCh38.p13 chr9 128907375 128907375 + G G A Missense_Mutation SNP ENST00000259324.5 exon3 c.G211A p.G71S exonic ENSG00000136802.11 . nonsynonymous SNV ENSG00000136802.11:ENST00000259324.5:exon3:c.G211A:p.G71S 9q34.11 C3L-00908 3.31e-05 0 0.0003 0 0 0 0 0 rs144778925 3.20 T T B B N D N T N 0.239 T T T 0.021 0.240 0.373 0.891 T T T T T T 1.655 16.730 0.679 D D -0.456 1.265 -0.244 1.683 1.000 0.707 0.725 0.725 0.711 . 5.410 3.500 2.934 1.176 0.676 0.999 0.980 0.583 901 LRRC8,_pannexin-like_TM_region . . . LRRC8A 159 0 114 26 0.185714285714286 TRUE NA +ENSG00000148396.18 . BCM GRCh38.p13 chr9 136446889 136446889 + C C T Missense_Mutation SNP ENST00000313050.11 exon26 c.G6758A p.G2253D exonic ENSG00000148396.18 . nonsynonymous SNV ENSG00000148396.18:ENST00000313050.11:exon26:c.G6758A:p.G2253D 9q34.3 C3L-00908 . . . . . . . . . 2.19 D T P P N N . T N 0.269 T T D 0.100 0.132 0.208 0.218 T T T T T T 2.068 19.780 0.979 N N -0.459 1.258 -0.644 0.982 0.876 0.707 0.702 0.725 0.714 . 4.750 0.511 0.473 0.031 0.599 0.000 0.002 0.058 946 . . . . SEC16A 81 0 71 16 0.183908045977011 TRUE NA +ENSG00000123243.15 . BCM GRCh38.p13 chr10 7642045 7642045 + T T G Missense_Mutation SNP ENST00000397146.7 exon3 c.A181C p.I61L exonic ENSG00000123243.15 . nonsynonymous SNV ENSG00000123243.15:ENST00000397146.7:exon3:c.A181C:p.I61L 10p14 C3L-00908 . . . . . . . . . 5.19 D T P B N D . T N 0.510 T T T 0.138 0.704 0.277 . T T T T D T 3.438 24.500 0.991 D D 0.168 3.165 0.205 3.209 0.712 0.615 0.590 0.659 0.564 . 5.710 4.560 4.726 1.138 0.665 1.000 0.964 0.864 958 VIT_domain . . . ITIH5 149 1 148 42 0.221052631578947 TRUE TRUE +ENSG00000136750.13 . BCM GRCh38.p13 chr10 26217896 26217896 + C C G Missense_Mutation SNP ENST00000376261.8 exon3 c.C191G p.P64R exonic ENSG00000136750.13 . nonsynonymous SNV ENSG00000136750.13:ENST00000376261.8:exon3:c.C191G:p.P64R 10p12.1 C3L-00908 . . . . . . . . . 1.20 T T B B N N N T N 0.178 T T D 0.079 0.234 0.296 0.421 T T T T T T 0.770 9.102 0.538 N N -0.921 0.494 -0.833 0.713 0.891 0.598 0.563 0.607 0.639 . 5.940 2.730 0.386 0.950 0.520 0.011 0.070 0.013 665 . . . . GAD2 130 0 99 7 0.0660377358490566 NA TRUE +ENSG00000107643.16 . BCM GRCh38.p13 chr10 48410152 48410152 + C C T Missense_Mutation SNP ENST00000374189.5 exon5 c.C434T p.A145V exonic ENSG00000107643.16 . nonsynonymous SNV ENSG00000107643.16:ENST00000374189.5:exon5:c.C434T:p.A145V 10q11.22 C3L-00908 8.765e-06 0 0 0 0 1.541e-05 0 0 rs779380684 13.20 D D P P D D N T D 0.753 T T D 0.458 0.802 0.792 1.673 D T D D D D 3.620 25.100 0.998 D D 0.580 5.728 0.634 6.671 1.000 0.732 0.744 0.710 0.613 . 5.400 5.400 7.905 1.026 0.599 1.000 1.000 0.997 735 Mitogen-activated_protein_(MAP)_kinase,_conserved_site;Protein_kinase_domain . . . MAPK8 24 0 30 9 0.230769230769231 TRUE NA +ENSG00000108018.15 . BCM GRCh38.p13 chr10 106620513 106620515 + TTC TTC - In_Frame_Del DEL ENST00000263054.10 exon20 c.2709_2711del p.K903del exonic ENSG00000108018.15 . nonframeshift deletion ENSG00000108018.15:ENST00000263054.10:exon20:c.2709_2711del:p.K903del 10q25.1 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORCS1 157 0 117 27 0.1875 TRUE TRUE +ENSG00000167323.11 . BCM GRCh38.p13 chr11 4059310 4059310 + G G A Missense_Mutation SNP ENST00000300737.8 exon5 c.G527A p.G176E exonic ENSG00000167323.11 . nonsynonymous SNV ENSG00000167323.11:ENST00000300737.8:exon5:c.G527A:p.G176E 11p15.4 C3L-00908 . . . . . . . . . 8.20 D T P B D D L T N 0.784 T T D 0.215 0.405 0.794 1.331 T T T D T D 2.659 22.700 0.995 D D 0.268 3.620 0.423 4.526 1.000 0.722 0.699 0.659 0.735 . 5.870 5.870 4.966 1.176 0.676 1.000 0.989 0.984 609 Stromal_interaction_molecule_1,_SAM_domain;Sterile_alpha_motif_domain . . . STIM1 226 0 249 52 0.172757475083056 TRUE NA +ENSG00000134827.8 . BCM GRCh38.p13 chr11 59861658 59861658 + G G C Missense_Mutation SNP ENST00000257264.4 exon4 c.C425G p.T142S exonic ENSG00000134827.8 . nonsynonymous SNV ENSG00000134827.8:ENST00000257264.4:exon4:c.C425G:p.T142S 11q12.1 C3L-00908 . . . . . . . . . 7.20 T D D D D N L T D 0.633 T T T 0.355 0.881 0.634 0.122 T T T T D T 3.390 24.400 0.994 D N 0.502 5.048 0.470 4.898 1.000 0.487 0.574 0.574 0.613 . 5.120 5.120 4.689 1.006 0.671 1.000 0.979 0.655 730 . . . . TCN1 341 0 311 80 0.20460358056266 TRUE TRUE +ENSG00000165966.16 . BCM GRCh38.p13 chr12 41188939 41188939 + C C T Missense_Mutation SNP ENST00000402685.7 exon1 c.C484T p.P162S exonic ENSG00000165966.16 . nonsynonymous SNV ENSG00000165966.16:ENST00000402685.7:exon1:c.C484T:p.P162S 12q12 C3L-00908 . . . . . . . . . 3.17 T D . . . N N T N 0.216 T T D 0.066 0.403 0.438 1.637 D T T T T T 0.849 9.888 0.927 N N -0.831 0.611 -0.972 0.524 0.782 0.570 0.658 0.607 0.555 . 1.650 -0.514 1.960 -0.010 -0.326 0.583 0.018 0.003 851 . . . . PDZRN4 69 0 65 20 0.235294117647059 TRUE TRUE +ENSG00000123352.18 . BCM GRCh38.p13 chr12 49494858 49494858 + G G A Missense_Mutation SNP ENST00000552918.6 exon7 c.G382A p.G128S exonic ENSG00000123352.18 . nonsynonymous SNV ENSG00000123352.18:ENST00000552918.6:exon7:c.G382A:p.G128S 12q13.12 C3L-00908 . . . . . . . . . 3.19 T T B B N N L . N 0.223 T T T 0.070 0.406 0.043 0.311 T T T T D T 2.510 22.400 0.819 D D -0.104 2.163 -0.002 2.352 1.000 0.719 0.723 0.710 0.714 . 5.580 4.680 4.638 0.245 0.676 1.000 0.995 0.993 163 . . . . SPATS2 200 0 208 41 0.164658634538153 TRUE TRUE +ENSG00000139514.13 . BCM GRCh38.p13 chr13 29535908 29535908 + G G A Missense_Mutation SNP ENST00000380752.10 exon3 c.C281T p.T94M exonic ENSG00000139514.13 . nonsynonymous SNV ENSG00000139514.13:ENST00000380752.10:exon3:c.C281T:p.T94M 13q12.3 C3L-00908 1.65e-05 0 0 0 0 3.003e-05 0 0 rs756760070 20.20 D D D D D D M D D 0.889 D D D 0.910 0.591 0.954 1.889 D D D D D D 4.150 28.200 0.999 D D 0.993 13.717 0.893 13.474 1.000 0.707 0.702 0.644 0.714 . 4.810 4.810 9.873 1.176 0.671 1.000 0.989 0.952 947 . . . ID=COSV66330180;OCCURENCE=1(large_intestine) SLC7A1 255 0 215 41 0.16015625 TRUE TRUE +ENSG00000166734.20 . BCM GRCh38.p13 chr15 44289340 44289340 + G G C Missense_Mutation SNP ENST00000299957.11 exon1 c.G311C p.R104T exonic ENSG00000166734.20 . nonsynonymous SNV ENSG00000166734.20:ENST00000299957.11:exon1:c.G311C:p.R104T 15q15.3 C3L-00908 . . . . . . . . . 11.19 T T D D D D L D N 0.302 D D D 0.341 0.267 0.811 1.200 T . T T D D 2.780 23.000 0.951 D N 0.114 2.941 0.188 3.126 1.000 0.442 0.522 0.522 0.562 . 5.570 4.660 1.850 1.176 0.618 1.000 1.000 0.998 189 . . . . CASC4 135 0 85 17 0.166666666666667 TRUE NA +ENSG00000197535.14 . BCM GRCh38.p13 chr15 52410334 52410334 + T T A Missense_Mutation SNP ENST00000399231.7 exon6 c.A755T p.Q252L exonic ENSG00000197535.14 . nonsynonymous SNV ENSG00000197535.14:ENST00000399231.7:exon6:c.A755T:p.Q252L 15q21.2 C3L-00908 . . . . . . . . . 19.20 D D D D D D M D D 0.834 D D D 0.939 0.863 0.950 0.436 T D D D D D 4.780 33 0.995 D D 0.900 11.059 0.836 11.275 1.000 0.707 0.709 0.659 0.714 . 5.470 5.470 8.017 1.138 0.665 1.000 1.000 0.983 499 Myosin_head,_motor_domain;Class_V_myosin,_motor_domain . . . MYO5A 311 0 268 51 0.15987460815047 TRUE TRUE +ENSG00000140563.15 . BCM GRCh38.p13 chr15 94298343 94298343 + G G T Missense_Mutation SNP ENST00000357742.9 exon1 c.G78T p.K26N exonic ENSG00000140563.15 . nonsynonymous SNV ENSG00000140563.15:ENST00000357742.9:exon1:c.G78T:p.K26N 15q26.2 C3L-00908 . . . . . . . . . 7.20 D D P B N D M T N 0.364 T T D 0.026 0.240 0.423 0.050 T T T T D T 1.835 17.990 0.998 D N -0.220 1.822 -0.132 1.959 1.000 0.638 0.588 0.618 0.668 . 4.980 3.070 1.066 1.176 0.676 0.998 0.986 0.721 952 . . . . MCTP2 187 0 179 57 0.241525423728814 TRUE TRUE +ENSG00000118900.15 . BCM GRCh38.p13 chr16 4876982 4876982 + A A G Missense_Mutation SNP ENST00000262376.11 exon16 c.A3136G p.I1046V exonic ENSG00000118900.15 . nonsynonymous SNV ENSG00000118900.15:ENST00000262376.11:exon16:c.A3136G:p.I1046V 16p13.3 C3L-00908 . . . . . . . . . 2.20 D T B B N N L T N 0.427 T T T 0.041 0.611 0.043 0.064 T T T T T T 1.351 14.750 0.992 D N -0.742 0.744 -0.745 0.836 0.921 0.707 0.702 0.725 0.714 . 5.550 0.229 1.453 0.283 -0.100 0.997 0.392 0.517 479 . . . . UBN1 128 0 155 35 0.184210526315789 TRUE TRUE +ENSG00000183044.12 . BCM GRCh38.p13 chr16 8781399 8781399 + T T A Missense_Mutation SNP ENST00000268251.13 exon16 c.T1472A p.I491N exonic ENSG00000183044.12 . nonsynonymous SNV ENSG00000183044.12:ENST00000268251.13:exon16:c.T1472A:p.I491N 16p13.2 C3L-00908 . . . . . . . . . 8.20 T T B B D D M T N 0.839 T T D 0.495 0.630 0.748 0.578 T T T T D D 2.904 23.200 0.941 D D 0.096 2.871 0.194 3.156 1.000 0.706 0.670 0.710 0.586 . 5.390 5.390 7.973 1.129 0.654 1.000 0.998 0.971 970 . . . . ABAT 472 0 394 79 0.167019027484144 TRUE TRUE +ENSG00000196118.12 . BCM GRCh38.p13 chr16 30759024 30759024 + C C T Missense_Mutation SNP ENST00000543610.6 exon8 c.G805A p.E269K exonic ENSG00000196118.12 . nonsynonymous SNV ENSG00000196118.12:ENST00000543610.6:exon8:c.G805A:p.E269K 16p11.2 C3L-00908 . . . . . . . . . 0.17 T T B B N N . . N 0.136 T T T 0.003 0.214 0.067 0.273 . T T T T T 0.394 5.363 0.807 N N -1.049 0.354 -0.997 0.493 1.000 0.476 0.518 0.670 0.714 . 4.760 0.535 -0.911 0.110 -0.217 0.000 0.221 0.203 10 . . . . CCDC189 151 0 178 10 0.0531914893617021 NA TRUE +ENSG00000132475.10 . BCM GRCh38.p13 chr17 75779084 75779084 + G G T Missense_Mutation SNP ENST00000254810.8 exon2 c.C91A p.P31T exonic ENSG00000132475.10 . nonsynonymous SNV ENSG00000132475.10:ENST00000254810.8:exon2:c.C91A:p.P31T 17q25.1 C3L-00908 . . . . . . . . . 8.16 . D . . U D . T D 0.580 T T D 0.304 0.386 0.947 2.077 D T T T D T 3.459 24.600 0.975 D D 0.508 5.096 0.518 5.324 1.000 0.442 0.522 0.504 0.562 . 5.080 4.120 9.427 1.167 0.676 1.000 0.991 0.993 964 Histone_H2A/H2B/H3 . . . H3-3B 66 1 68 8 0.105263157894737 NA TRUE +ENSG00000152217.19 . BCM GRCh38.p13 chr18 44953009 44953009 + G G C Missense_Mutation SNP ENST00000649279.2 exon4 c.G3669C p.K1223N exonic ENSG00000152217.19 . nonsynonymous SNV ENSG00000152217.19:ENST00000649279.2:exon4:c.G3669C:p.K1223N 18q12.3 C3L-00908 . . . . . . . . . 10.20 D T D D D D L T N 0.489 T T D 0.224 0.177 0.345 0.991 T T T T D D 3.202 23.900 0.999 D D 0.472 4.823 0.496 5.121 0.969 0.563 0.654 0.602 0.564 . 6.040 5.140 3.796 1.176 0.676 1.000 0.984 0.899 863 . . . . SETBP1 551 0 438 89 0.16888045540797 TRUE NA +ENSG00000032444.16 . BCM GRCh38.p13 chr19 7557216 7557216 + T T C Missense_Mutation SNP ENST00000414982.7 exon29 c.T3359C p.L1120P exonic ENSG00000032444.16 . nonsynonymous SNV ENSG00000032444.16:ENST00000414982.7:exon29:c.T3359C:p.L1120P 19p13.2 C3L-00908 . . . . . . . . . 16.18 D D D D D D . T D 0.800 D D D 0.909 . 0.793 2.553 T . D D D D 4.607 32 0.999 D D 0.742 7.755 0.583 6.022 0.997 0.707 0.702 0.702 0.714 . 4.090 4.090 7.950 1.134 0.599 1.000 1.000 0.997 889 Patatin-like_phospholipase_domain . . ID=COSV55373482;OCCURENCE=1(central_nervous_system) PNPLA6 647 1 458 112 0.196491228070175 TRUE TRUE +ENSG00000099331.13 . BCM GRCh38.p13 chr19 17152660 17152660 + T T C Missense_Mutation SNP ENST00000594824.5 exon4 c.T952C p.Y318H exonic ENSG00000099331.13 . nonsynonymous SNV ENSG00000099331.13:ENST00000594824.5:exon4:c.T952C:p.Y318H 19p13.11 C3L-00908 . . . . . . . . . 17.18 D D . . D D M T D 0.824 D D D 0.848 0.914 0.828 2.032 D D D D D D 4.260 29.200 0.998 D D 0.769 8.198 0.712 7.991 1.000 0.732 0.702 0.744 0.714 . 5.040 5.040 7.672 1.041 0.661 1.000 0.995 0.996 929 Class_IX_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO9B 136 0 151 31 0.17032967032967 TRUE NA +ENSG00000130589.16 . BCM GRCh38.p13 chr20 63566449 63566449 + C C T Missense_Mutation SNP ENST00000467148.1 exon7 c.G2519A p.S840N exonic ENSG00000130589.16 . nonsynonymous SNV ENSG00000130589.16:ENST00000467148.1:exon7:c.G2519A:p.S840N 20q13.33 C3L-00908 . . . . . . . . . 3.20 T T B B N N L D N 0.148 T D D 0.180 0.297 0.583 0.278 T T T T T T 0.581 7.331 0.979 N N -0.835 0.606 -0.893 0.630 0.945 0.707 0.702 0.723 0.714 . 4.720 1.120 -0.041 -0.265 -0.176 0.000 0.004 0.004 . . . . . HELZ2 98 0 104 22 0.174603174603175 TRUE TRUE +ENSG00000186716.21 . BCM GRCh38.p13 chr22 23314046 23314046 + T T A Missense_Mutation SNP ENST00000305877.13 exon21 c.T3536A p.F1179Y exonic ENSG00000186716.21 . nonsynonymous SNV ENSG00000186716.21:ENST00000305877.13:exon21:c.T3536A:p.F1179Y 22q11.23 C3L-00908 . . . . . . . . . 11.20 D D D D D D L T N 0.827 T T T 0.331 0.783 0.603 0.241 D T T T D D 4.203 28.700 0.994 D D 0.537 5.334 0.531 5.456 1.000 0.707 0.702 0.702 0.714 . 4.370 4.370 7.760 1.123 0.665 1.000 1.000 0.995 940 Rho_GTPase-activating_protein_domain . . . BCR 178 0 160 23 0.12568306010929 TRUE TRUE +ENSG00000100014.20 . BCM GRCh38.p13 chr22 24321790 24321790 + - NA T Frame_Shift_Ins INS ENST00000358654.2 exon5 c.811dupT p.L271Ffs*16 exonic ENSG00000100014.20;ENSG00000258555.6 . frameshift insertion ENSG00000258555.6:ENST00000358654.2:exon5:c.811dupT:p.L271Ffs*16,ENSG00000100014.20:ENST00000651059.1:exon7:c.868dupT:p.L290Ffs*16 22q11.23 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPECC1L NA NA NA NA NA NA NA +ENSG00000100429.18 . BCM GRCh38.p13 chr22 50250792 50250792 + T T A Missense_Mutation SNP ENST00000216271.10 exon2 c.A173T p.E58V exonic ENSG00000100429.18 . nonsynonymous SNV ENSG00000100429.18:ENST00000216271.10:exon2:c.A173T:p.E58V 22q13.33 C3L-00908 . . . . . . . . . 10.20 D D D P N N M T D 0.259 D T D 0.387 0.658 0.822 0.186 T T T T D D 2.431 22.200 0.981 D N -0.135 2.067 -0.363 1.440 1.000 0.767 0.522 0.851 0.639 . 4.120 -1.330 1.141 -0.692 -0.311 0.794 0.124 0.144 641 Histone_deacetylase_domain . . . HDAC10 83 0 44 9 0.169811320754717 TRUE TRUE +ENSG00000126768.12 . BCM GRCh38.p13 chrX 48893764 48893764 + C C T Missense_Mutation SNP ENST00000376582.7 exon7 c.G484A p.A162T exonic ENSG00000126768.12 . nonsynonymous SNV ENSG00000126768.12:ENST00000376582.7:exon7:c.G484A:p.A162T Xp11.23 C3L-00908 . . . . . . . . . 0.19 T T B B N N L T N 0.079 T T T 0.053 0.131 0.082 0.407 T T T T T T 0.538 6.895 0.796 N . . . . . 0.991 . . . . . 5.010 2.170 0.564 -0.236 -0.838 0.191 0.137 0.096 113 . . . . TIMM17B 43 0 22 5 0.185185185185185 NA TRUE +ENSG00000172943.20 . BCM GRCh38.p13 chrX 53985079 53985079 + T T C Missense_Mutation SNP ENST00000357988.9 exon18 c.A2386G p.S796G exonic ENSG00000172943.20 . nonsynonymous SNV ENSG00000172943.20:ENST00000357988.9:exon18:c.A2386G:p.S796G Xp11.22 C3L-00908 . . . . . . . . . 1.19 T T P B N N L T N 0.148 T T T 0.033 0.345 0.486 0.461 T T T T T T 2.237 21.100 0.995 D . . . . . 0.099 . . . . . 5.740 4.530 1.069 1.138 0.665 0.988 1.000 0.999 23 . . . . PHF8 204 1 215 39 0.153543307086614 TRUE TRUE +ENSG00000181789.14 . BCM GRCh38.p13 chr3 129260401 129260401 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000181789.14 ENST00000314797.10:exon11:c.939+1G>C . . 3q21.3 C3L-00908 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.043 35 0.991 D . 1.133 19.074 0.961 16.627 1.000 0.295 0.279 0.320 0.323 0.987 6.000 6.000 9.719 1.109 0.618 1.000 0.997 0.979 546 . . . . COPG1 107 0 88 13 0.128712871287129 TRUE TRUE +ENSG00000081237.20 . BCM GRCh38.p13 chr1 198639304 198639304 + T T C Silent SNP ENST00000442510.8 exon2 c.T36C p.F12F exonic ENSG00000081237.20 . synonymous SNV ENSG00000081237.20:ENST00000442510.8:exon2:c.T36C:p.F12F 1q31.3 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRC 365 0 317 129 0.289237668161435 TRUE TRUE +ENSG00000039139.9 . BCM GRCh38.p13 chr5 13714567 13714567 + G G A Silent SNP ENST00000265104.4 exon75 c.C12963T p.D4321D exonic ENSG00000039139.9 . synonymous SNV ENSG00000039139.9:ENST00000265104.4:exon75:c.C12963T:p.D4321D 5p15.2 C3L-00908 1.648e-05 0 0 0 0 2.998e-05 0 0 rs768902025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH5 542 0 400 90 0.183673469387755 TRUE NA +ENSG00000161011.20 . BCM GRCh38.p13 chr5 179825201 179825201 + T T C Silent SNP ENST00000389805.9 exon5 c.T729C p.S243S exonic ENSG00000161011.20 . synonymous SNV ENSG00000161011.20:ENST00000389805.9:exon5:c.T729C:p.S243S 5q35.3 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SQSTM1 456 0 447 68 0.132038834951456 TRUE TRUE +ENSG00000172594.13 . BCM GRCh38.p13 chr6 122804959 122804959 + C C T Silent SNP ENST00000368440.5 exon6 c.C789T p.N263N exonic ENSG00000172594.13 . synonymous SNV ENSG00000172594.13:ENST00000368440.5:exon6:c.C789T:p.N263N 6q22.31 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMPDL3A 240 1 233 47 0.167857142857143 TRUE TRUE +ENSG00000146592.17 . BCM GRCh38.p13 chr7 28819234 28819234 + C C T Silent SNP ENST00000357727.7 exon11 c.C1482T p.L494L exonic ENSG00000146592.17 . synonymous SNV ENSG00000146592.17:ENST00000357727.7:exon11:c.C1482T:p.L494L 7p14.3 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CREB5 129 0 155 21 0.119318181818182 NA TRUE +ENSG00000196313.11 . BCM GRCh38.p13 chr7 72942147 72942147 + C C G Silent SNP ENST00000434423.4 exon11 c.C2154G p.A718A exonic ENSG00000196313.11 . synonymous SNV ENSG00000196313.11:ENST00000434423.4:exon11:c.C2154G:p.A718A 7q11.23 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POM121 926 0 1017 56 0.0521901211556384 NA TRUE +ENSG00000083168.11 . BCM GRCh38.p13 chr8 41932448 41932448 + G G A Silent SNP ENST00000265713.8 exon17 c.C5772T p.S1924S exonic ENSG00000083168.11 . synonymous SNV ENSG00000083168.11:ENST00000265713.8:exon17:c.C5772T:p.S1924S 8p11.21 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55907098;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) KAT6A 113 0 110 30 0.214285714285714 TRUE TRUE +ENSG00000105738.11 . BCM GRCh38.p13 chr19 38119420 38119420 + C C T Silent SNP ENST00000222345.11 exon9 c.C2406T p.N802N exonic ENSG00000105738.11 . synonymous SNV ENSG00000105738.11:ENST00000222345.11:exon9:c.C2406T:p.N802N 19q13.13 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55913623;OCCURENCE=1(large_intestine) SIPA1L3 302 0 254 54 0.175324675324675 TRUE NA +ENSG00000132793.11 . BCM GRCh38.p13 chr20 41355926 41355926 + C C T Silent SNP ENST00000373257.7 exon14 c.C1695T p.D565D exonic ENSG00000132793.11 . synonymous SNV ENSG00000132793.11:ENST00000373257.7:exon14:c.C1695T:p.D565D 20q12 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LPIN3 142 0 142 36 0.202247191011236 TRUE NA +ENSG00000151388.11 . BCM GRCh38.p13 chr5 33751399 33751399 + A A C Intron SNP NA NA NA NA intronic ENSG00000151388.11 . . . 5p13.3 C3L-00908 . . . . . . . . . 1.16 T T B B . D . T N 0.121 T T T 0.017 0.399 0.331 . . . T T T T 0.207 3.203 0.905 N N -0.230 1.795 -0.324 1.515 1.000 0.706 0.710 0.602 0.586 . 5.800 0.608 -0.265 0.272 0.756 0.058 0.937 0.860 914 . . . . ADAMTS12 304 0 213 42 0.164705882352941 TRUE NA +ENSG00000086589.12 . BCM GRCh38.p13 chr5 150700568 150700568 + G G T Intron SNP NA NA NA NA intronic ENSG00000086589.12 . . . 5q33.1 C3L-00908 . . . . . . . . . 2.13 D D . . . N . . N . T T . 0.052 0.164 0.068 . . T T T T T 0.574 7.258 0.970 N N -0.656 0.889 -0.866 0.666 1.000 0.025 0.219 0.240 0.562 . 2.590 -0.506 0.531 -0.453 -0.202 0.001 0.000 0.001 783 . . . . RBM22 124 1 127 27 0.175324675324675 TRUE TRUE +ENSG00000148735.15 . BCM GRCh38.p13 chr10 113775023 113775023 + C C A Intron SNP NA NA NA NA intronic ENSG00000148735.15 . . . 10q25.3 C3L-00908 . . . . . . . . . 9.14 D D . . . D . T D 0.721 T T D 0.316 . 0.305 . . T D T D . 2.044 19.590 0.996 D D 0.631 6.257 0.624 6.539 0.994 0.516 0.610 0.574 0.542 . 5.640 5.640 4.256 1.026 0.549 1.000 0.927 0.698 897 . . . . PLEKHS1 207 0 151 36 0.192513368983957 TRUE TRUE +ENSG00000272685.1 . BCM GRCh38.p13 chr11 58109293 58109293 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000272685.1 . . . 11q12.1 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR9I3P 289 0 294 70 0.192307692307692 TRUE NA +ENSG00000284428.1 . BCM GRCh38.p13 chr19 23262333 23262333 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000284428.1 . . . 19p12 C3L-00908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092329.4 239 0 218 22 0.0916666666666667 TRUE NA +ENSG00000127124.16 . BCM GRCh38.p13 chr1 41581754 41581754 + T T C Missense_Mutation SNP ENST00000372583.6 exon4 c.A3044G p.Y1015C exonic ENSG00000127124.16 . nonsynonymous SNV ENSG00000127124.16:ENST00000372583.6:exon4:c.A3044G:p.Y1015C 1p34.2 C3L-00910 8.611e-06 0 0 0 0 1.527e-05 0 0 rs772186531 4.20 T T B B N D L T N 0.445 T T T 0.053 . 0.218 0.249 T T T T T D 3.079 23.600 0.991 D D -0.230 1.793 -0.074 2.123 0.997 0.563 0.654 0.547 0.568 . 4.890 3.770 4.057 1.138 0.665 1.000 0.997 0.985 486 . . . . HIVEP3 63 0 50 3 0.0566037735849057 TRUE NA +ENSG00000240563.2 . BCM GRCh38.p13 chr1 62207562 62207562 + T T A Missense_Mutation SNP ENST00000498273.2 exon3 c.T934A p.L312I exonic ENSG00000240563.2 . nonsynonymous SNV ENSG00000240563.2:ENST00000498273.2:exon3:c.T934A:p.L312I 1p31.3 C3L-00910 . . . . . . . . . 2.19 T T D D . N N T N 0.235 T T T 0.062 0.231 0.388 0.044 T T T T T T 2.135 20.400 0.986 N N -0.192 1.899 -0.299 1.567 0.999 0.672 0.574 0.702 0.564 . 2.350 2.350 1.634 1.054 0.566 0.975 0.806 0.309 911 L1_transposable_element,_dsRBD-like_domain . . . L1TD1 100 0 54 17 0.23943661971831 TRUE TRUE +ENSG00000050628.20 . BCM GRCh38.p13 chr1 71047103 71047103 + T T G Missense_Mutation SNP ENST00000306666.9 exon1 c.A475C p.I159L exonic ENSG00000050628.20 . nonsynonymous SNV ENSG00000050628.20:ENST00000306666.9:exon1:c.A475C:p.I159L 1p31.1 C3L-00910 . . . . . . . . . 9.20 D D P B D D M T N 0.469 T T D 0.499 0.761 0.549 1.464 T T T T D T 4.005 27.000 0.984 D D 0.275 3.653 0.341 3.966 1.000 0.598 0.596 0.616 0.555 . 5.100 5.100 3.949 0.982 0.580 1.000 0.995 0.973 900 GPCR,_rhodopsin-like,_7TM . . . PTGER3 177 0 138 28 0.168674698795181 TRUE TRUE +ENSG00000268043.7 . BCM GRCh38.p13 chr1 146983089 146983089 + G G C Missense_Mutation SNP ENST00000617931.4 exon22 c.G2612C p.G871A exonic ENSG00000268043.7 . nonsynonymous SNV ENSG00000268043.7:ENST00000617931.4:exon22:c.G2612C:p.G871A 1q21.1 C3L-00910 . . . . . . . . . 0.12 . T . . . N . . . 0.207 T T T 0.012 . 0.030 . . T T T T T -0.134 0.705 0.118 N N -1.486 0.085 -1.653 0.062 0.000 0.693 0.659 0.618 0.668 . 0.791 -1.580 -1.098 -2.048 -0.568 0.000 0.000 0.003 739 Neuroblastoma_breakpoint_family_(NBPF)_domain . . . NBPF12 424 1 407 37 0.0833333333333333 NA TRUE +ENSG00000180287.17 . BCM GRCh38.p13 chr1 242124652 242124652 + C C A Missense_Mutation SNP ENST00000536534.7 exon6 c.G749T p.G250V exonic ENSG00000180287.17 . nonsynonymous SNV ENSG00000180287.17:ENST00000536534.7:exon6:c.G749T:p.G250V 1q43 C3L-00910 . . . . . . . . . 15.20 D D D P D D M T D 0.968 T T D 0.567 0.878 0.376 1.426 D T D D D D 3.723 25.500 0.996 D D 0.842 9.647 0.807 10.348 0.890 0.554 0.588 0.618 0.564 . 5.610 5.610 6.035 1.026 0.599 1.000 0.971 0.966 988 PLD-like_domain . . . PLD5 144 0 143 24 0.143712574850299 TRUE TRUE +ENSG00000197591.3 . BCM GRCh38.p13 chr1 247841746 247841746 + G G T Missense_Mutation SNP ENST00000355784.3 exon1 c.C151A p.Q51K exonic ENSG00000197591.3 . nonsynonymous SNV ENSG00000197591.3:ENST00000355784.3:exon1:c.C151A:p.Q51K 1q44 C3L-00910 . . . . . . . . . 0.20 T T B B U N N T N 0.079 T T T 0.009 0.253 0.402 0.031 T T T T T T 0.545 6.969 0.540 N N -1.304 0.163 -1.286 0.218 0.000 0.487 0.574 0.574 0.564 . 4.200 1.080 -0.550 -1.295 -1.080 0.000 0.001 0.001 964 GPCR,_rhodopsin-like,_7TM . . ID=COSV63315015;OCCURENCE=1(lung) OR11L1 238 0 248 53 0.176079734219269 TRUE TRUE +ENSG00000162727.3 . BCM GRCh38.p13 chr1 248145494 248145494 + C C T Missense_Mutation SNP ENST00000366476.1 exon1 c.C347T p.A116V exonic ENSG00000162727.3 . nonsynonymous SNV ENSG00000162727.3:ENST00000366476.1:exon1:c.C347T:p.A116V 1q44 C3L-00910 . . . . . . . . . 5.20 D D D P U N L T D 0.257 T T T 0.066 0.433 0.040 0.149 T T T T D T 1.447 15.390 0.998 N N -0.062 2.296 -0.226 1.725 0.000 0.487 0.574 0.574 0.564 . 3.280 3.280 0.671 -0.894 -0.461 0.001 0.000 0.001 976 GPCR,_rhodopsin-like,_7TM . . ID=COSV100822874;OCCURENCE=1(skin) OR2M5 370 1 331 182 0.354775828460039 NA TRUE +ENSG00000152284.5 . BCM GRCh38.p13 chr2 85307714 85307714 + G G A Missense_Mutation SNP ENST00000282111.4 exon11 c.G1330A p.E444K exonic ENSG00000152284.5 . nonsynonymous SNV ENSG00000152284.5:ENST00000282111.4:exon11:c.G1330A:p.E444K 2p11.2 C3L-00910 . . . . . . . . . 3.20 T T P B N D L T N 0.223 T T T 0.051 0.387 0.177 0.287 T T T T T T 2.742 22.900 0.996 D D 0.067 2.758 0.235 3.362 1.000 0.707 0.514 0.702 0.714 . 5.440 5.440 4.168 1.157 0.595 1.000 1.000 0.941 895 . . . . TCF7L1 153 0 108 73 0.403314917127072 TRUE TRUE +ENSG00000176771.17 . BCM GRCh38.p13 chr2 132963837 132963837 + C C G Missense_Mutation SNP ENST00000409261.6 exon8 c.G462C p.K154N exonic ENSG00000176771.17 . nonsynonymous SNV ENSG00000176771.17:ENST00000409261.6:exon8:c.G462C:p.K154N 2q21.2 C3L-00910 . . . . . . . . . 0.19 T T B B . N L T N 0.376 T T T 0.026 0.224 0.187 0.046 T T T T T T 0.812 9.511 0.998 N N -0.721 0.777 -0.654 0.967 0.008 0.554 0.588 0.618 0.568 . 4.860 -2.320 -0.138 -0.664 0.597 0.485 0.398 0.980 976 . . . . NCKAP5 218 0 251 34 0.119298245614035 TRUE TRUE +ENSG00000163093.12 . BCM GRCh38.p13 chr2 169492995 169493002 + TTATCCAG TTATCCAG - Nonsense_Mutation DEL ENST00000295240.8 exon6 c.508_515del p.L170* exonic ENSG00000163093.12;ENSG00000251569.1 . stopgain ENSG00000163093.12:ENST00000295240.8:exon6:c.508_515del:p.L170*,ENSG00000251569.1:ENST00000513963.1:exon6:c.508_515del:p.L170* 2q31.1 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BBS5 300 0 177 35 0.165094339622642 TRUE TRUE +ENSG00000115524.17 . BCM GRCh38.p13 chr2 197402645 197402645 + G G A Missense_Mutation SNP ENST00000335508.11 exon14 c.C1988T p.T663I exonic ENSG00000115524.17 . nonsynonymous SNV ENSG00000115524.17:ENST00000335508.11:exon14:c.C1988T:p.T663I 2q33.1 C3L-00910 . . . . . . . . . 19.20 D D D D D D H T D 0.853 D D D 0.738 0.674 0.771 3.010 D D D D D D 3.941 26.600 0.999 D D 1.091 17.144 1.017 19.901 1.000 0.672 0.698 0.702 0.711 . 5.680 5.680 9.791 1.105 0.675 1.000 1.000 0.997 616 . . . ID=COSV59206194;OCCURENCE=2(liver),11(haematopoietic_and_lymphoid_tissue) SF3B1 350 0 340 92 0.212962962962963 TRUE TRUE +ENSG00000196220.16 . BCM GRCh38.p13 chr3 9064436 9064436 + C C T Missense_Mutation SNP ENST00000383836.8 exon5 c.G632A p.R211H exonic ENSG00000196220.16 . nonsynonymous SNV ENSG00000196220.16:ENST00000383836.8:exon5:c.G632A:p.R211H 3p25.3 C3L-00910 2.472e-05 9.612e-05 0 0.0001 0 1.499e-05 0 0 rs149157821 16.20 D D D D D D M T D 0.656 T T D 0.350 . 0.223 1.691 D D T D D D 4.084 27.600 1.000 D D 0.737 7.677 0.707 7.879 1.000 0.615 0.588 0.659 0.564 . 4.940 4.940 7.735 1.010 0.529 1.000 1.000 0.998 840 F-BAR_domain . . ID=COSV64537247;OCCURENCE=2(large_intestine),2(endometrium) SRGAP3 159 0 103 38 0.269503546099291 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142103 10142103 + C C - Frame_Shift_Del DEL ENST00000256474.3 exon1 c.256delC p.V87Yfs*72 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.256delC:p.V87Yfs*72 3p25.3 C3L-00910 . . . . . . . . rs864622545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 461 0 190 75 0.283018867924528 TRUE TRUE +ENSG00000198218.11 . BCM GRCh38.p13 chr3 49046490 49046490 + G G A Nonsense_Mutation SNP ENST00000395443.7 exon5 c.C1606T p.R536X exonic ENSG00000198218.11 . stopgain ENSG00000198218.11:ENST00000395443.7:exon5:c.C1606T:p.R536X 3p21.31 C3L-00910 . . . . . . . . . 5.6 . . . . D A . . . 0.462 . . . . . . . . . D D . . 7.273 37 0.998 D N 0.900 11.055 0.791 9.867 1.000 0.707 0.725 0.702 0.714 . 6.160 5.280 7.383 1.172 0.672 1.000 1.000 0.999 0 . . . ID=COSV62614640;OCCURENCE=1(large_intestine) QRICH1 202 0 113 37 0.246666666666667 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52561855 52561855 + T T - Frame_Shift_Del DEL ENST00000296302.11 exon25 c.4200delA p.Q1400Hfs*81 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon25:c.4200delA:p.Q1400Hfs*81 3p21.1 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 515 0 305 85 0.217948717948718 TRUE TRUE +ENSG00000163618.18 . BCM GRCh38.p13 chr3 62518203 62518205 + TCA TCA - In_Frame_Del DEL ENST00000383710.9 exon14 c.2337_2339del p.F779_E780delinsL exonic ENSG00000163618.18 . nonframeshift deletion ENSG00000163618.18:ENST00000383710.9:exon14:c.2337_2339del:p.F779_E780delinsL 3p14.2 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CADPS 214 0 99 37 0.272058823529412 TRUE TRUE +ENSG00000144820.8 . BCM GRCh38.p13 chr3 100643632 100643632 + A A C Missense_Mutation SNP ENST00000273352.8 exon8 c.A945C p.K315N exonic ENSG00000144820.8 . nonsynonymous SNV ENSG00000144820.8:ENST00000273352.8:exon8:c.A945C:p.K315N 3q12.2 C3L-00910 . . . . . . . . . 1.19 T T B B N D . T N 0.076 T T T 0.129 0.474 0.055 0.066 T T T T T T 0.813 9.517 0.519 N N -0.767 0.703 -0.711 0.884 0.001 0.487 0.547 0.574 0.613 . 5.790 4.590 1.014 -0.056 0.756 0.053 0.016 0.056 694 . . . . ADGRG7 132 0 101 20 0.165289256198347 TRUE TRUE +ENSG00000031081.11 . BCM GRCh38.p13 chr3 119415934 119415934 + T T - Frame_Shift_Del DEL ENST00000264245.9 exon12 c.4005delT p.F1336Sfs*12 exonic ENSG00000031081.11 . frameshift deletion ENSG00000031081.11:ENST00000264245.9:exon12:c.4005delT:p.F1336Sfs*12 3q13.33 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP31 121 0 87 33 0.275 TRUE TRUE +ENSG00000075711.21 . BCM GRCh38.p13 chr3 197115944 197115944 + - NA T Frame_Shift_Ins NA ENST00000419354.5 exon14 c.1524dupA p.G509Rfs*11 exonic ENSG00000075711.21 . frameshift insertion ENSG00000075711.21:ENST00000419354.5:exon14:c.1524dupA:p.G509Rfs*11 3q29 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DLG1 NA NA NA NA NA NA NA +ENSG00000164164.17 . BCM GRCh38.p13 chr4 145137814 145137814 + G G T Missense_Mutation SNP ENST00000447906.8 exon21 c.C2961A p.S987R exonic ENSG00000164164.17 . nonsynonymous SNV ENSG00000164164.17:ENST00000447906.8:exon21:c.C2961A:p.S987R 4q31.21 C3L-00910 . . . . . . . . . 2.18 D T . . D N L T N 0.213 T T T 0.093 . 0.219 0.417 T T T T T T 1.644 16.660 0.996 N N -0.410 1.361 -0.399 1.375 0.075 0.707 0.725 0.644 0.714 . 6.170 0.849 0.202 -0.042 -0.546 0.001 0.985 0.941 862 . . . . OTUD4 239 2 208 50 0.193798449612403 NA TRUE +ENSG00000170088.14 . BCM GRCh38.p13 chr4 165079759 165079759 + C C A Nonsense_Mutation SNP ENST00000306480.11 exon6 c.G715T p.G239X exonic ENSG00000170088.14 . stopgain ENSG00000170088.14:ENST00000306480.11:exon6:c.G715T:p.G239X 4q32.3 C3L-00910 . . . . . . . . . 5.6 . . . . D D . . . 0.063 . . . . . . . . . D D . . 7.190 37 0.994 D N 1.120 18.422 0.981 17.715 1.000 0.719 0.725 0.725 0.734 . 5.970 5.970 5.217 0.965 0.531 1.000 0.922 0.942 979 . . . . TMEM192 172 0 122 38 0.2375 TRUE TRUE +ENSG00000145781.9 . BCM GRCh38.p13 chr5 116134127 116134127 + A A - Frame_Shift_Del DEL ENST00000274458.9 exon5 c.459delA p.K154Nfs*11 exonic ENSG00000145781.9 . frameshift deletion ENSG00000145781.9:ENST00000274458.9:exon5:c.459delA:p.K154Nfs*11 5q23.1 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COMMD10 247 0 263 63 0.193251533742331 TRUE TRUE +ENSG00000015479.19 . BCM GRCh38.p13 chr5 139308238 139308238 + A A G Missense_Mutation SNP ENST00000394805.8 exon2 c.A823G p.S275G exonic ENSG00000015479.19;ENSG00000280987.4 . nonsynonymous SNV ENSG00000015479.19:ENST00000394805.8:exon2:c.A823G:p.S275G,ENSG00000280987.4:ENST00000361059.7:exon5:c.A823G:p.S275G 5q31.2 C3L-00910 8.273e-06 9.992e-05 0 0 0 0 0 0 rs375756727 7.20 D D B P D D L T N 0.465 T T D 0.295 . 0.842 0.863 T T T T T D 2.365 21.900 0.993 D N -0.041 2.368 0.147 2.935 1.000 0.737 0.733 0.733 0.711 . 5.400 5.400 3.315 1.312 0.756 1.000 1.000 1.000 636 . . . . MATR3 147 0 206 36 0.148760330578512 TRUE NA +ENSG00000153046.18 . BCM GRCh38.p13 chr6 4891714 4891714 + T T G Missense_Mutation SNP ENST00000328908.9 exon4 c.T188G p.V63G exonic ENSG00000153046.18 . nonsynonymous SNV ENSG00000153046.18:ENST00000328908.9:exon4:c.T188G:p.V63G 6p25.1 C3L-00910 . . . . . . . . . 19.19 D D D D D D . D D 0.764 D D D 0.898 0.733 0.977 1.004 D D D D D D 4.653 32 0.996 D D 1.033 14.976 0.929 15.056 1.000 0.635 0.654 0.644 0.655 . 5.640 5.640 7.838 1.138 0.665 1.000 0.996 0.974 896 Chromo/chromo_shadow_domain;Chromo_domain . . . CDYL 113 0 97 22 0.184873949579832 TRUE TRUE +ENSG00000008197.5 . BCM GRCh38.p13 chr6 50715143 50715143 + C C T Missense_Mutation SNP ENST00000008391.4 exon2 c.C67T p.R23C exonic ENSG00000008197.5 . nonsynonymous SNV ENSG00000008197.5:ENST00000008391.4:exon2:c.C67T:p.R23C 6p12.3 C3L-00910 . . . . . . . . . 18.20 D D D D D D N D D 0.899 D D D 0.802 0.898 0.206 1.268 D T D D D D 4.268 29.300 0.999 D D 0.503 5.061 0.553 5.682 1.000 0.598 0.563 0.378 0.639 . 5.560 4.690 7.839 1.026 0.599 1.000 1.000 1.000 539 . . . ID=COSV50431210;OCCURENCE=2(stomach) TFAP2D 101 0 45 28 0.383561643835616 TRUE TRUE +ENSG00000137252.9 . BCM GRCh38.p13 chr6 55277438 55277438 + A A G Missense_Mutation SNP ENST00000615358.4 exon6 c.A821G p.Q274R exonic ENSG00000137252.9 . nonsynonymous SNV ENSG00000137252.9:ENST00000615358.4:exon6:c.A821G:p.Q274R 6p12.1 C3L-00910 . . . . . . . . . 5.20 T T P B D D N T N 0.377 T T T 0.168 0.410 0.847 0.520 T T T T D T 2.052 19.650 0.995 D D 0.054 2.707 0.169 3.034 1.000 0.542 0.574 0.233 0.631 . 6.060 4.880 6.577 1.312 0.756 1.000 0.944 0.824 807 GPCR,_rhodopsin-like,_7TM . . . HCRTR2 317 0 274 82 0.230337078651685 TRUE TRUE +ENSG00000135298.14 . BCM GRCh38.p13 chr6 68956089 68956089 + C C T Nonsense_Mutation SNP ENST00000370598.6 exon7 c.C1261T p.Q421X exonic ENSG00000135298.14 . stopgain ENSG00000135298.14:ENST00000370598.6:exon7:c.C1261T:p.Q421X 6q12 C3L-00910 . . . . . . . . . 5.6 . . . . D A . . . 0.474 . . . . . . . . . D D . . 7.823 39 0.998 D N 1.112 18.020 0.960 16.578 1.000 0.554 0.574 0.602 0.564 . 5.710 5.710 7.715 1.026 0.549 1.000 0.981 0.824 913 . . . . ADGRB3 167 0 131 45 0.255681818181818 TRUE TRUE +ENSG00000049618.24 . BCM GRCh38.p13 chr6 157207289 157207289 + G G A Missense_Mutation SNP ENST00000636930.2 exon20 c.G6517A p.D2173N exonic ENSG00000049618.24 . nonsynonymous SNV ENSG00000049618.24:ENST00000636930.2:exon20:c.G6517A:p.D2173N 6q25.3 C3L-00910 . . . . . . . . . 12.20 D T D D D D M T D 0.858 T T T 0.364 0.740 0.513 1.437 D T T T D D 4.392 31 0.999 D D 0.869 10.269 0.866 12.366 1.000 0.707 0.698 0.725 0.714 . 5.410 5.410 9.917 1.176 0.676 1.000 0.994 0.999 938 SWI/SNF-like_complex_subunit_BAF250,_C-terminal . . . ARID1B 276 1 163 63 0.278761061946903 TRUE TRUE +ENSG00000091656.19 . BCM GRCh38.p13 chr8 76704089 76704089 + A A T Translation_Start_Site SNP ENST00000651372.2 exon2 c.A1T p.M1? exonic ENSG00000091656.19 . startloss ENSG00000091656.19:ENST00000651372.2:exon2:c.A1T:p.M1? 8q21.13 C3L-00910 . . . . . . . . . 10.16 D D . . U D . T D 0.877 T T D 0.470 0.989 0.665 . . T D D D D 3.645 25.200 0.931 D N 0.645 6.411 0.693 7.622 1.000 0.638 0.610 0.547 0.668 . 5.550 5.550 9.325 1.312 0.691 1.000 1.000 0.999 856 . . . . ZFHX4 61 0 41 15 0.267857142857143 TRUE TRUE +ENSG00000155897.10 . BCM GRCh38.p13 chr8 130780665 130780665 + G G T Missense_Mutation SNP ENST00000286355.10 exon18 c.C3481A p.Q1161K exonic ENSG00000155897.10 . nonsynonymous SNV ENSG00000155897.10:ENST00000286355.10:exon18:c.C3481A:p.Q1161K 8q24.22 C3L-00910 . . . . . . . . . 10.20 T T P B D D N T N 0.710 T T D 0.329 0.361 0.810 0.534 D T D D D D 2.561 22.600 0.980 D D 0.105 2.908 0.356 4.060 1.000 0.615 0.574 0.659 0.542 . 5.790 5.790 9.796 1.176 0.676 1.000 1.000 0.999 906 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . ADCY8 236 0 216 30 0.121951219512195 TRUE TRUE +ENSG00000137054.16 . BCM GRCh38.p13 chr9 37498162 37498162 + G G T Missense_Mutation SNP ENST00000377798.9 exon9 c.G824T p.R275L exonic ENSG00000137054.16 . nonsynonymous SNV ENSG00000137054.16:ENST00000377798.9:exon9:c.G824T:p.R275L 9p13.2 C3L-00910 . . . . . . . . . 12.17 T D . . D D M T D 0.905 T T D 0.490 0.862 0.693 0.660 T . D D D D 4.508 32 0.998 D D 0.802 8.813 0.815 10.582 1.000 0.732 0.702 0.744 0.714 . 6.060 6.060 7.707 1.176 0.676 1.000 0.992 0.998 592 . . . . POLR1E 206 0 164 40 0.196078431372549 TRUE TRUE +ENSG00000130635.16 . BCM GRCh38.p13 chr9 134823001 134823001 + C C A Missense_Mutation SNP ENST00000371817.8 exon60 c.C4612A p.P1538T exonic ENSG00000130635.16 . nonsynonymous SNV ENSG00000130635.16:ENST00000371817.8:exon60:c.C4612A:p.P1538T 9q34.3 C3L-00910 . . . . . . . . . 14.20 T T D P U D M D D 0.514 D D D 0.666 0.346 0.766 0.329 T D D D D T 3.135 23.700 0.977 D D 0.579 5.715 0.510 5.249 1.000 0.707 0.660 0.723 0.714 . 5.140 5.140 5.825 1.018 0.589 1.000 0.578 0.118 814 . . . . COL5A1 437 0 362 59 0.140142517814727 TRUE TRUE +ENSG00000148602.6 . BCM GRCh38.p13 chr10 84232130 84232130 + G G A Nonsense_Mutation SNP ENST00000372105.4 exon4 c.C1669T p.R557X exonic ENSG00000148602.6 . stopgain ENSG00000148602.6:ENST00000372105.4:exon4:c.C1669T:p.R557X 10q23.1 C3L-00910 0.0007 0 0.0078 0 0 0 0 0 rs147050752 4.6 . . . . N D . . . 0.018 . . . . . . . . . D D . . 7.605 38 0.996 D N 0.785 8.496 0.603 6.267 0.003 0.497 0.563 0.547 0.542 . 5.490 4.530 2.425 1.176 0.618 1.000 0.856 0.638 925 . . . ID=COSV64512346;OCCURENCE=1(prostate) LRIT1 262 0 179 14 0.0725388601036269 TRUE TRUE +ENSG00000165886.5 . BCM GRCh38.p13 chr10 97570231 97570231 + C C T Missense_Mutation SNP ENST00000370664.4 exon3 c.C392T p.T131M exonic ENSG00000165886.5 . nonsynonymous SNV ENSG00000165886.5:ENST00000370664.4:exon3:c.C392T:p.T131M 10q24.2 C3L-00910 2.512e-05 0 0 0 0 4.6e-05 0 0 rs750347239 4.20 D D D B N N L T N 0.092 T T T 0.162 . 0.194 0.578 T T T T T T 2.401 22.100 0.993 D N -0.274 1.678 -0.275 1.616 1.000 0.706 0.634 0.710 0.714 . 5.200 1.910 3.700 0.129 0.599 1.000 0.837 0.761 372 . . . . UBTD1 223 0 166 23 0.121693121693122 TRUE NA +ENSG00000134571.11 . BCM GRCh38.p13 chr11 47332691 47332691 + C C T Missense_Mutation SNP ENST00000545968.6 exon32 c.G3502A p.E1168K exonic ENSG00000134571.11 . nonsynonymous SNV ENSG00000134571.11:ENST00000545968.6:exon32:c.G3502A:p.E1168K 11p11.2 C3L-00910 . . . . . . . . . 4.17 T T . . . D N D N 0.329 T T D 0.136 . 0.798 0.247 T T T T T T 1.873 18.280 0.712 N D -0.794 0.663 -0.511 1.185 0.078 0.554 0.588 0.578 0.613 . 5.100 3.130 1.948 0.119 0.582 0.979 0.730 0.913 17 . . . . MYBPC3 88 0 96 27 0.219512195121951 TRUE TRUE +ENSG00000173715.17 . BCM GRCh38.p13 chr11 66843212 66843212 + T T C Missense_Mutation SNP ENST00000525908.6 exon17 c.T1865C p.L622P exonic ENSG00000173715.17 . nonsynonymous SNV ENSG00000173715.17:ENST00000525908.6:exon17:c.T1865C:p.L622P 11q13.2 C3L-00910 . . . . . . . . . 8.17 D D D D N D . T D 0.518 T T D 0.237 . 0.288 0.467 . . T T D T 3.935 26.600 0.994 N N 0.080 2.808 -0.040 2.226 1.000 0.442 0.522 0.522 0.373 . 4.130 4.130 2.189 1.066 0.519 0.963 0.956 0.643 423 . . . . C11orf80 196 0 166 47 0.220657276995305 TRUE TRUE +ENSG00000048649.13 . BCM GRCh38.p13 chr11 77701403 77701403 + T T A Missense_Mutation SNP ENST00000308488.10 exon6 c.A1826T p.E609V exonic ENSG00000048649.13 . nonsynonymous SNV ENSG00000048649.13:ENST00000308488.10:exon6:c.A1826T:p.E609V 11q14.1 C3L-00910 . . . . . . . . . 10.20 D D P B D D L D N 0.613 T T D 0.441 0.151 0.904 0.195 T T D D D T 2.936 23.300 0.992 D N 0.237 3.469 0.327 3.881 0.185 0.732 0.744 0.744 0.728 . 5.230 5.230 2.443 1.138 0.665 0.461 0.996 0.999 530 . . . . RSF1 205 1 156 41 0.208121827411168 TRUE TRUE +ENSG00000139219.19 . BCM GRCh38.p13 chr12 47976534 47976534 + C C A Missense_Mutation SNP ENST00000380518.8 exon49 c.G3469T p.A1157S exonic ENSG00000139219.19 . nonsynonymous SNV ENSG00000139219.19:ENST00000380518.8:exon49:c.G3469T:p.A1157S 12q13.11 C3L-00910 . . . . . . . . . 8.20 T T B B D D N D N 0.179 T D D 0.381 0.329 0.515 0.289 T T T T D D 1.615 16.470 0.742 N D -0.418 1.344 -0.271 1.625 0.999 0.706 0.547 0.710 0.613 . 5.430 5.430 0.084 1.026 0.599 0.041 1.000 0.998 634 . . . . COL2A1 345 1 379 96 0.202105263157895 TRUE TRUE +ENSG00000253719.4 . BCM GRCh38.p13 chr12 74538225 74538225 + A A - Frame_Shift_Del DEL ENST00000519948.4 exon1 c.113delA p.H38Pfs*19 exonic ENSG00000253719.4 . frameshift deletion ENSG00000253719.4:ENST00000519948.4:exon1:c.113delA:p.H38Pfs*19 12q21.1 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATXN7L3B 421 0 484 45 0.0850661625708885 TRUE TRUE +ENSG00000111364.16 . BCM GRCh38.p13 chr12 123619527 123619527 + G G A Missense_Mutation SNP ENST00000238146.9 exon13 c.G1429A p.V477M exonic ENSG00000111364.16 . nonsynonymous SNV ENSG00000111364.16:ENST00000238146.9:exon13:c.G1429A:p.V477M 12q24.31 C3L-00910 0.0004 0 8.64e-05 0.0002 0 0.0007 0 6.056e-05 rs145230532 3.20 T T B B N D M T N 0.157 T T T 0.064 . 0.248 0.177 T T T T T T 1.286 14.280 0.967 D N -0.385 1.416 -0.280 1.606 1.000 0.707 0.702 0.725 0.711 . 5.730 4.850 2.336 0.228 -0.113 0.743 0.084 0.557 351 . . . . DDX55 329 0 302 68 0.183783783783784 TRUE NA +ENSG00000197653.16 . BCM GRCh38.p13 chr12 123877902 123877902 + C C T Missense_Mutation SNP ENST00000638045.1 exon47 c.C8012T p.P2671L exonic ENSG00000197653.16 . nonsynonymous SNV ENSG00000197653.16:ENST00000638045.1:exon47:c.C8012T:p.P2671L 12q24.31 C3L-00910 0.0002 0.0024 0 0 0 1.501e-05 0 0 rs116330875 7.16 . . D P U D M . . . T T D 0.332 . 0.364 0.207 T T T T T D 2.819 23.100 0.998 D D 0.602 5.947 0.550 5.646 1.000 0.497 0.590 0.547 0.530 . 5.460 5.460 6.073 1.026 0.594 1.000 0.122 0.131 658 . . . . DNAH10 97 0 113 23 0.169117647058824 TRUE NA +ENSG00000090612.22 . BCM GRCh38.p13 chr12 133203811 133203811 + T T C Missense_Mutation SNP ENST00000536435.7 exon6 c.T2125C p.S709P exonic ENSG00000090612.22 . nonsynonymous SNV ENSG00000090612.22:ENST00000536435.7:exon6:c.T2125C:p.S709P 12q24.33 C3L-00910 . . . . . . . . . 7.19 D D D D . N M T D 0.498 T T T 0.130 0.620 0.279 0.212 T T T T D T 3.103 23.600 0.997 N N 0.003 2.522 -0.162 1.879 0.003 0.672 0.702 0.644 0.636 . 4.560 2.130 -0.394 0.969 0.665 0.000 0.321 0.064 438 Zinc_finger_C2H2-type . . . ZNF268 266 0 257 61 0.191823899371069 TRUE TRUE +ENSG00000041515.16 . BCM GRCh38.p13 chr13 108957694 108957694 + G G C Missense_Mutation SNP ENST00000356711.7 exon17 c.G1866C p.L622F exonic ENSG00000041515.16 . nonsynonymous SNV ENSG00000041515.16:ENST00000356711.7:exon17:c.G1866C:p.L622F 13q33.3 C3L-00910 . . . . . . . . . 15.19 D D D P U D H D D 0.563 D D D 0.693 0.794 0.894 0.729 T D D D D . 3.851 26.100 0.998 N D 0.723 7.451 0.661 7.087 1.000 0.497 0.590 0.489 0.662 . 5.220 5.220 4.488 1.176 0.676 1.000 0.993 0.980 938 Class_XVI_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO16 113 0 104 36 0.257142857142857 TRUE TRUE +ENSG00000168952.15 . BCM GRCh38.p13 chr14 24819105 24819105 + C C G Missense_Mutation SNP ENST00000323944.9 exon5 c.G541C p.G181R exonic ENSG00000168952.15 . nonsynonymous SNV ENSG00000168952.15:ENST00000323944.9:exon5:c.G541C:p.G181R 14q12 C3L-00910 . . . . . . . . . 14.20 D D D D D D M T D 0.802 T T D 0.239 0.309 0.300 0.735 T T D T D D 3.481 24.600 0.998 D D 0.254 3.552 0.203 3.200 1.000 0.693 0.709 0.659 0.542 . 5.350 4.470 6.152 0.129 -0.230 1.000 0.997 0.691 476 STXBP6,_SNARE_domain;Synaptobrevin . . ID=COSV60593990;OCCURENCE=1(kidney) STXBP6 127 0 86 36 0.295081967213115 TRUE TRUE +ENSG00000133961.20 . BCM GRCh38.p13 chr14 73276990 73276990 + T T C Missense_Mutation SNP ENST00000555238.5 exon13 c.A1544G p.N515S exonic ENSG00000133961.20 . nonsynonymous SNV ENSG00000133961.20:ENST00000555238.5:exon13:c.A1544G:p.N515S 14q24.2 C3L-00910 8.247e-06 0 0 0.0001 0 0 0 0 rs765768042 7.20 T T D D D D L T N 0.360 T T T 0.127 0.189 0.691 0.182 T D T T T D 2.261 21.300 0.997 D N 0.249 3.526 0.365 4.119 1.000 0.672 0.702 0.702 0.711 . 5.510 5.510 4.929 1.138 0.665 1.000 0.992 0.995 743 . . . . NUMB 209 0 173 53 0.234513274336283 TRUE NA +ENSG00000137770.14 . BCM GRCh38.p13 chr15 44499802 44499802 + G G A Missense_Mutation SNP ENST00000260327.9 exon8 c.G958A p.V320I exonic ENSG00000137770.14 . nonsynonymous SNV ENSG00000137770.14:ENST00000260327.9:exon8:c.G958A:p.V320I 15q15.3 C3L-00910 . . . . . . . . . 7.20 T T B B D D N T N 0.565 T T T 0.227 0.479 0.292 1.189 D T T T D D 2.714 22.900 0.979 D D 0.113 2.938 0.335 3.930 1.000 0.732 0.744 0.725 0.728 . 5.350 5.350 10.003 1.176 0.676 1.000 1.000 1.000 202 FCP1_homology_domain;Dullard_phosphatase_domain,_eukaryotic . . . CTDSPL2 143 0 42 8 0.16 TRUE TRUE +ENSG00000174444.15 . BCM GRCh38.p13 chr15 66502710 66502710 + C C A Missense_Mutation SNP ENST00000307961.11 exon4 c.G323T p.W108L exonic ENSG00000174444.15 . nonsynonymous SNV ENSG00000174444.15:ENST00000307961.11:exon4:c.G323T:p.W108L 15q22.31 C3L-00910 . . . . . . . . . 15.19 D D P P D D M . D 0.801 T T D 0.466 0.508 0.621 0.803 D D D D D D 4.605 32 0.986 D D 0.595 5.878 0.590 6.096 1.000 0.628 0.672 0.686 0.639 . 4.390 4.390 7.677 1.026 0.599 1.000 0.999 0.986 819 60S_ribosomal_protein_L4,_C-terminal_domain . . . RPL4 272 0 275 16 0.0549828178694158 TRUE TRUE +ENSG00000137821.11 . BCM GRCh38.p13 chr15 70895867 70895867 + A A G Missense_Mutation SNP ENST00000260382.9 exon3 c.A124G p.K42E exonic ENSG00000137821.11 . nonsynonymous SNV ENSG00000137821.11:ENST00000260382.9:exon3:c.A124G:p.K42E 15q23 C3L-00910 . . . . . . . . . 9.20 D D B B D D L T D 0.346 T T T 0.054 0.389 0.454 0.418 T T T T D D 2.599 22.600 0.997 D D -0.055 2.322 0.147 2.934 1.000 0.706 0.588 0.710 0.655 . 5.370 5.370 5.883 1.288 0.756 1.000 0.975 0.944 842 . . . . LRRC49 134 0 65 21 0.244186046511628 TRUE NA +ENSG00000185033.14 . BCM GRCh38.p13 chr15 90201721 90201721 + T T G Missense_Mutation SNP ENST00000411539.6 exon1 c.T143G p.I48S exonic ENSG00000185033.14 . nonsynonymous SNV ENSG00000185033.14:ENST00000411539.6:exon1:c.T143G:p.I48S 15q26.1 C3L-00910 . . . . . . . . . 6.17 D D . . N D . T N 0.402 T T D 0.141 . 0.377 0.475 T T T T D T 2.900 23.200 0.988 D N -0.217 1.829 -0.122 1.986 1.000 0.658 0.484 0.522 0.604 . 3.690 3.690 0.569 1.066 0.572 0.622 0.843 0.248 534 Sema_domain . . . SEMA4B 59 0 52 6 0.103448275862069 TRUE TRUE +ENSG00000078328.21 . BCM GRCh38.p13 chr16 7579914 7579914 + G G T Missense_Mutation SNP ENST00000550418.6 exon6 c.G408T p.M136I exonic ENSG00000078328.21 . nonsynonymous SNV ENSG00000078328.21:ENST00000550418.6:exon6:c.G408T:p.M136I 16p13.3 C3L-00910 . . . . . . . . . 13.20 D D D D D D N T D 0.895 T T T 0.367 0.548 0.514 0.939 D T D T D D 3.945 26.600 0.994 D D 0.308 3.822 0.473 4.923 1.000 0.554 0.574 0.618 0.564 . 5.390 5.390 9.568 1.176 0.676 1.000 1.000 0.998 978 RNA_recognition_motif_domain;FOX1,_RNA_recognition_motif . . . RBFOX1 96 0 101 23 0.185483870967742 TRUE TRUE +ENSG00000184517.12 . BCM GRCh38.p13 chr16 75166844 75166844 + G G T Missense_Mutation SNP ENST00000570010.6 exon3 c.G90T p.R30S exonic ENSG00000184517.12 . nonsynonymous SNV ENSG00000184517.12:ENST00000570010.6:exon3:c.G90T:p.R30S 16q23.1 C3L-00910 . . . . . . . . . 9.19 D D D D N D H T D 0.732 T T T 0.261 0.748 0.265 . T T T T D . 2.873 23.200 0.994 D N 0.223 3.405 0.064 2.592 0.193 0.563 0.654 0.609 0.636 . 3.350 2.400 0.767 0.227 -0.182 0.523 1.000 0.994 788 Krueppel-associated_box . . . ZFP1 201 2 205 54 0.208494208494208 TRUE TRUE +ENSG00000161929.15 . BCM GRCh38.p13 chr17 5223442 5223442 + C C T Missense_Mutation SNP ENST00000574081.6 exon2 c.G36A p.M12I exonic ENSG00000161929.15 . nonsynonymous SNV ENSG00000161929.15:ENST00000574081.6:exon2:c.G36A:p.M12I 17p13.2 C3L-00910 . . . . . . . . . 11.19 D D D P D D M . D 0.671 T T T 0.118 0.311 0.279 1.105 T T D D D T 3.528 24.800 0.994 D N 0.559 5.528 0.523 5.372 1.000 0.722 0.699 0.659 0.568 . 5.530 5.530 3.400 1.022 0.596 0.971 0.991 0.979 485 . . . . SCIMP 282 0 243 63 0.205882352941176 TRUE TRUE +ENSG00000132518.7 . BCM GRCh38.p13 chr17 8003130 8003130 + G G C Missense_Mutation SNP ENST00000254854.5 exon2 c.G83C p.R28P exonic ENSG00000132518.7 . nonsynonymous SNV ENSG00000132518.7:ENST00000254854.5:exon2:c.G83C:p.R28P 17p13.1 C3L-00910 . . . . . . . . . 2.20 T T B B N N N D N 0.198 T T D 0.108 0.283 0.819 1.807 T T T T T T 1.115 12.920 0.791 N N -0.944 0.466 -0.945 0.561 0.854 0.598 0.590 0.608 0.639 . 4.230 2.010 0.192 1.070 0.674 0.000 0.001 0.004 712 . . . . GUCY2D 107 0 161 42 0.206896551724138 TRUE TRUE +ENSG00000134762.17 . BCM GRCh38.p13 chr18 30996911 30996911 + G G - Frame_Shift_Del DEL ENST00000360428.9 exon15 c.2373delC p.C792Afs*88 exonic ENSG00000134762.17 . frameshift deletion ENSG00000134762.17:ENST00000360428.9:exon15:c.2373delC:p.C792Afs*88 18q12.1 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DSC3 393 0 333 108 0.244897959183673 TRUE TRUE +ENSG00000197563.11 . BCM GRCh38.p13 chr18 62157227 62157227 + C C T Missense_Mutation SNP ENST00000640252.2 exon6 c.G344A p.G115E exonic ENSG00000197563.11 . nonsynonymous SNV ENSG00000197563.11:ENST00000640252.2:exon6:c.G344A:p.G115E 18q21.33 C3L-00910 1.157e-05 0 0 0 0 0 0 8.182e-05 rs766376855 18.20 D D D D D D H T D 0.977 D D D 0.866 0.805 0.920 0.211 D T D D D D 4.507 32 0.998 D D 0.855 9.959 0.766 9.188 1.000 0.706 0.709 0.710 0.613 . 5.410 4.540 7.752 1.026 0.599 1.000 0.998 0.946 948 GPI_ethanolamine_phosphate_transferase_1,_N-terminal . . . PIGN 75 0 50 10 0.166666666666667 TRUE NA +ENSG00000130479.11 . BCM GRCh38.p13 chr19 17725839 17725839 + T T G Missense_Mutation SNP ENST00000324096.9 exon5 c.T455G p.I152S exonic ENSG00000130479.11 . nonsynonymous SNV ENSG00000130479.11:ENST00000324096.9:exon5:c.T455G:p.I152S 19p13.11 C3L-00910 . . . . . . . . . 2.20 T D B B N N N T D 0.252 T T T 0.142 0.482 0.434 0.460 T T T T T T 2.100 20.100 0.947 N N -1.079 0.326 -1.086 0.390 0.378 0.672 0.698 0.780 0.711 . 4.320 2.190 2.402 0.769 -0.249 0.032 0.058 0.002 964 . . . . MAP1S 70 0 57 25 0.304878048780488 TRUE TRUE +ENSG00000086967.10 . BCM GRCh38.p13 chr19 50435853 50435853 + G G T Missense_Mutation SNP ENST00000357701.6 exon3 c.G187T p.V63L exonic ENSG00000086967.10 . nonsynonymous SNV ENSG00000086967.10:ENST00000357701.6:exon3:c.G187T:p.V63L 19q13.33 C3L-00910 . . . . . . . . . 8.19 D D B B . D M T N 0.165 T T D 0.277 0.330 0.770 0.155 T T T T D T 2.835 23.100 0.991 D D -0.040 2.374 0.032 2.473 0.552 0.615 0.551 0.659 0.613 . 4.600 4.600 3.940 1.068 0.617 1.000 0.896 0.323 799 Immunoglobulin_I-set;Immunoglobulin_subtype . . . MYBPC2 132 0 92 35 0.275590551181102 TRUE NA +ENSG00000101353.14 . BCM GRCh38.p13 chr20 37179254 37179254 + C C T Missense_Mutation SNP ENST00000400441.7 exon2 c.G226A p.A76T exonic ENSG00000101353.14 . nonsynonymous SNV ENSG00000101353.14:ENST00000400441.7:exon2:c.G226A:p.A76T 20q11.23 C3L-00910 . . . . . . . . rs1000235443 1.18 T T B B N N . T N 0.072 T T T 0.017 0.180 0.014 . T . T T T T 0.079 1.909 0.970 D N -0.965 0.443 -1.065 0.412 1.000 0.442 0.522 0.522 0.562 . 4.560 -2.990 -1.266 -0.275 0.469 0.000 0.002 0.076 347 . . . . MROH8 87 0 86 34 0.283333333333333 TRUE NA +ENSG00000184221.13 . BCM GRCh38.p13 chr21 33070715 33070715 + G G T Missense_Mutation SNP ENST00000382348.2 exon1 c.G469T p.A157S exonic ENSG00000184221.13 . nonsynonymous SNV ENSG00000184221.13:ENST00000382348.2:exon1:c.G469T:p.A157S 21q22.11 C3L-00910 . . . . . . . . . 19.20 D D D D U D M D D 0.706 D D D 0.909 0.852 0.957 2.586 D D D D D D 3.800 25.800 0.997 D D 0.798 8.737 0.693 7.619 1.000 0.598 0.596 0.607 0.527 . 4.740 4.740 9.548 0.984 0.489 1.000 0.990 0.091 636 Myc-type,_basic_helix-loop-helix_(bHLH)_domain . . . OLIG1 73 0 40 13 0.245283018867925 TRUE TRUE +ENSG00000133454.16 . BCM GRCh38.p13 chr22 25768225 25768225 + C C A Missense_Mutation SNP ENST00000335473.12 exon4 c.C309A p.D103E exonic ENSG00000133454.16 . nonsynonymous SNV ENSG00000133454.16:ENST00000335473.12:exon4:c.C309A:p.D103E 22q12.1 C3L-00910 . . . . . . . . . 5.18 D T . . N N L D N 0.066 T D D 0.175 0.166 0.755 0.062 T T T T T T 1.131 13.060 0.985 D N -0.496 1.185 -0.470 1.251 0.999 0.487 0.547 0.547 0.564 . 4.510 2.370 1.520 0.130 -0.231 0.999 0.057 0.004 982 . . . . MYO18B 218 0 160 39 0.195979899497487 TRUE TRUE +ENSG00000047644.19 . BCM GRCh38.p13 chrX 10136687 10136687 + C C T Nonsense_Mutation SNP ENST00000380861.9 exon20 c.C2818T p.R940X exonic ENSG00000047644.19 . stopgain ENSG00000047644.19:ENST00000380861.9:exon20:c.C2818T:p.R940X Xp22.2 C3L-00910 . . . . . . . . rs61111056 5.5 . . . . D A . . . 0.430 . . . . . . . . . D D . . 7.878 40 0.998 D . . . . . 1.000 . . . . . 5.750 4.890 2.988 0.877 0.599 1.000 1.000 0.998 728 . . . ID=COSV101081477;OCCURENCE=1(stomach),1(endometrium) WWC3 242 1 189 51 0.2125 TRUE NA +ENSG00000198455.4 . BCM GRCh38.p13 chrX 57592767 57592767 + C C T Missense_Mutation SNP ENST00000374888.2 exon1 c.C719T p.A240V exonic ENSG00000198455.4 . nonsynonymous SNV ENSG00000198455.4:ENST00000374888.2:exon1:c.C719T:p.A240V Xp11.21 C3L-00910 . . . . . . . . . 3.19 D T B B N N M T N 0.054 T T T 0.019 0.400 0.215 1.058 D T T T T T 0.834 9.740 0.984 N . . . . . 1.000 . . . . . 3.050 1.180 -0.106 0.111 0.542 0.000 0.003 0.068 434 . . . . ZXDB 114 0 89 25 0.219298245614035 TRUE TRUE +ENSG00000183837.9 . BCM GRCh38.p13 chrX 153058086 153058086 + G G T Missense_Mutation SNP ENST00000593810.2 exon1 c.G1031T p.R344M exonic ENSG00000183837.9 . nonsynonymous SNV ENSG00000183837.9:ENST00000593810.2:exon1:c.G1031T:p.R344M Xq28 C3L-00910 . . . . . . . . . 2.16 . D D P . N L T . 0.317 T T T 0.061 0.276 0.753 . T T T T T T 1.874 18.290 0.945 N . . . . . 0.020 . . . . . 2.010 1.130 0.353 -0.163 -0.193 0.000 0.001 0.113 77 . . . . PNMA3 144 0 143 12 0.0774193548387097 TRUE TRUE +ENSG00000164128.7 . BCM GRCh38.p13 chr4 163325759 163325759 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000164128.7 ENST00000296533.3:exon3:c.700-1G>T . . 4q32.2 C3L-00910 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.539 32 0.994 D . 1.055 15.768 0.900 13.740 0.909 0.075 0.063 0.079 0.057 0.975 5.840 5.840 2.371 1.026 0.599 1.000 0.933 0.723 988 . . . . NPY1R 61 1 49 5 0.0925925925925926 TRUE TRUE +ENSG00000143341.12 . BCM GRCh38.p13 chr1 186178477 186178477 + C C T Silent SNP ENST00000271588.9 exon104 c.C16005T p.G5335G exonic ENSG00000143341.12 . synonymous SNV ENSG00000143341.12:ENST00000271588.9:exon104:c.C16005T:p.G5335G 1q31.1 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMCN1 124 0 152 48 0.24 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178698850 178698850 + T T G Silent SNP ENST00000591111.5 exon110 c.A29796C p.P9932P exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon110:c.A29796C:p.P9932P 2q31.2 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 180 1 185 38 0.170403587443946 TRUE TRUE +ENSG00000135903.20 . BCM GRCh38.p13 chr2 222220275 222220275 + G G A Silent SNP ENST00000350526.9 exon7 c.C1038T p.S346S exonic ENSG00000135903.20 . synonymous SNV ENSG00000135903.20:ENST00000350526.9:exon7:c.C1038T:p.S346S 2q36.1 C3L-00910 1.648e-05 0.0002 0 0 0 0 0 0 rs758760102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAX3 464 0 502 136 0.213166144200627 TRUE NA +ENSG00000168016.14 . BCM GRCh38.p13 chr3 36831291 36831291 + C C A Silent SNP ENST00000429976.5 exon21 c.G8160T p.V2720V exonic ENSG00000168016.14 . synonymous SNV ENSG00000168016.14:ENST00000429976.5:exon21:c.G8160T:p.V2720V 3p22.2 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRANK1 166 0 94 45 0.323741007194245 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52615352 52615352 + C C A Silent SNP ENST00000296302.11 exon15 c.G1923T p.L641L exonic ENSG00000163939.18 . synonymous SNV ENSG00000163939.18:ENST00000296302.11:exon15:c.G1923T:p.L641L 3p21.1 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 150 0 130 17 0.115646258503401 NA TRUE +ENSG00000243232.6 . BCM GRCh38.p13 chr5 140968902 140968902 + A A G Silent SNP ENST00000289269.7 exon1 c.A2136G p.L712L exonic ENSG00000243232.6 . synonymous SNV ENSG00000243232.6:ENST00000289269.7:exon1:c.A2136G:p.L712L 5q31.3 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHAC2 292 0 274 70 0.203488372093023 TRUE TRUE +ENSG00000253767.2 . BCM GRCh38.p13 chr5 141395195 141395195 + C C G Silent SNP ENST00000398604.2 exon1 c.C2382G p.S794S exonic ENSG00000253767.2 . synonymous SNV ENSG00000253767.2:ENST00000398604.2:exon1:c.C2382G:p.S794S 5q31.3 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA8 96 0 101 29 0.223076923076923 TRUE TRUE +ENSG00000146122.17 . BCM GRCh38.p13 chr6 39878532 39878532 + C C T Silent SNP ENST00000274867.9 exon13 c.C1489T p.L497L exonic ENSG00000146122.17 . synonymous SNV ENSG00000146122.17:ENST00000274867.9:exon13:c.C1489T:p.L497L 6p21.2 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DAAM2 149 0 103 36 0.258992805755396 TRUE NA +ENSG00000175283.8 . BCM GRCh38.p13 chr9 128946938 128946938 + G G A Silent SNP ENST00000372586.4 exon1 c.C366T p.A122A exonic ENSG00000175283.8 . synonymous SNV ENSG00000175283.8:ENST00000372586.4:exon1:c.C366T:p.A122A 9q34.11 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOLK 82 1 103 35 0.253623188405797 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 16888463 16888463 + A A G Silent SNP ENST00000377833.10 exon56 c.T8859C p.N2953N exonic ENSG00000107611.16 . synonymous SNV ENSG00000107611.16:ENST00000377833.10:exon56:c.T8859C:p.N2953N 10p13 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUBN 362 0 261 86 0.247838616714697 TRUE NA +ENSG00000148513.18 . BCM GRCh38.p13 chr10 37219058 37219058 + C C T Silent SNP ENST00000602533.6 exon34 c.C3346T p.L1116L exonic ENSG00000148513.18 . synonymous SNV ENSG00000148513.18:ENST00000602533.6:exon34:c.C3346T:p.L1116L 10p11.21 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD30A 172 1 61 21 0.25609756097561 NA TRUE +ENSG00000110455.14 . BCM GRCh38.p13 chr11 44067639 44067639 + T T C Silent SNP ENST00000263776.9 exon2 c.T12C p.L4L exonic ENSG00000110455.14 . synonymous SNV ENSG00000110455.14:ENST00000263776.9:exon2:c.T12C:p.L4L 11p11.2 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACCS 92 0 82 23 0.219047619047619 TRUE TRUE +ENSG00000111640.15 . BCM GRCh38.p13 chr12 6538104 6538104 + T T C Silent SNP ENST00000229239.10 exon9 c.T942C p.Y314Y exonic ENSG00000111640.15 . synonymous SNV ENSG00000111640.15:ENST00000229239.10:exon9:c.T942C:p.Y314Y 12p13.31 C3L-00910 2.473e-05 0 0 0 0 4.499e-05 0 0 rs748231452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GAPDH 151 0 177 48 0.213333333333333 TRUE NA +ENSG00000136153.20 . BCM GRCh38.p13 chr13 75805632 75805632 + A A G Silent SNP ENST00000377534.8 exon9 c.A1068G p.P356P exonic ENSG00000136153.20 . synonymous SNV ENSG00000136153.20:ENST00000377534.8:exon9:c.A1068G:p.P356P 13q22.2 C3L-00910 . . . . . . . . rs1044263637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LMO7 266 0 257 54 0.173633440514469 TRUE NA +ENSG00000092051.17 . BCM GRCh38.p13 chr14 23571030 23571030 + G G A Silent SNP ENST00000356300.9 exon5 c.C1701T p.I567I exonic ENSG00000092051.17 . synonymous SNV ENSG00000092051.17:ENST00000356300.9:exon5:c.C1701T:p.I567I 14q11.2 C3L-00910 8.954e-06 0 0 0 0 0 0 9.477e-05 rs528868041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58110154;OCCURENCE=2(large_intestine) JPH4 59 0 42 14 0.25 TRUE TRUE +ENSG00000166634.6 . BCM GRCh38.p13 chr18 63559649 63559649 + G G A Silent SNP ENST00000269491.5 exon3 c.G315A p.R105R exonic ENSG00000166634.6 . synonymous SNV ENSG00000166634.6:ENST00000269491.5:exon3:c.G315A:p.R105R 18q21.33 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINB12 140 0 109 30 0.215827338129496 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8980122 8980122 + A A G Silent SNP ENST00000397910.8 exon1 c.T1017C p.S339S exonic ENSG00000181143.15 . synonymous SNV ENSG00000181143.15:ENST00000397910.8:exon1:c.T1017C:p.S339S 19p13.2 C3L-00910 . . . . . . . . rs1046499551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC16 311 0 220 52 0.191176470588235 TRUE NA +ENSG00000104814.13 . BCM GRCh38.p13 chr19 38595653 38595653 + C C T Silent SNP ENST00000591517.5 exon28 c.G2256A p.A752A exonic ENSG00000104814.13 . synonymous SNV ENSG00000104814.13:ENST00000591517.5:exon28:c.G2256A:p.A752A 19q13.2 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP4K1 106 0 64 4 0.0588235294117647 TRUE NA +ENSG00000149654.11 . BCM GRCh38.p13 chr20 46210327 46210327 + G G A Silent SNP ENST00000537909.4 exon7 c.C1266T p.D422D exonic ENSG00000149654.11 . synonymous SNV ENSG00000149654.11:ENST00000537909.4:exon7:c.C1266T:p.D422D 20q13.12 C3L-00910 . . . . . . . . rs982195396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH22 54 0 39 12 0.235294117647059 TRUE NA +ENSG00000277203.1 . BCM GRCh38.p13 chrX 154887469 154887469 + C C G Silent SNP ENST00000610495.1 exon1 c.C1095G p.S365S exonic ENSG00000277203.1 . synonymous SNV ENSG00000277203.1:ENST00000610495.1:exon1:c.C1095G:p.S365S Xq28 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F8A1 293 0 238 41 0.146953405017921 NA TRUE +ENSG00000162733.19 . BCM GRCh38.p13 chr1 162770580 162770580 + G G A Intron SNP NA NA NA NA intronic ENSG00000162733.19 . . . 1q23.3 C3L-00910 2.882e-05 0.0003 0 0 0 0 0 0 rs571524258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDR2 256 0 206 56 0.213740458015267 TRUE NA +ENSG00000255274.9 . BCM GRCh38.p13 chr11 118028902 118028902 + G G T Intron SNP NA NA NA NA intronic ENSG00000255274.9 . . . 11q23.3 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMIM35 85 0 48 16 0.25 TRUE NA +ENSG00000251106.1 . BCM GRCh38.p13 chr13 46270346 46270346 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251106.1 . . . 13q14.13 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABITRAMP1 226 0 169 46 0.213953488372093 TRUE NA +ENSG00000054654.18 . BCM GRCh38.p13 chr14 64191029 64191029 + T T C Intron SNP NA NA NA NA intronic ENSG00000054654.18 . . . 14q23.2 C3L-00910 . . . . . . . . rs910574310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE2 368 0 285 91 0.242021276595745 TRUE NA +ENSG00000180458.2 . BCM GRCh38.p13 chr19 37548926 37548926 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000180458.2 . . . 19q13.12 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC022148.1 172 0 96 35 0.267175572519084 TRUE NA +ENSG00000221710.1 . BCM GRCh38.p13 chrX 114715248 114715248 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000221710.1 . . . Xq23 C3L-00910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR1298 225 0 160 45 0.219512195121951 TRUE NA +ENSG00000187889.13 . BCM GRCh38.p13 chr1 56792113 56792113 + G G A Missense_Mutation SNP ENST00000343433.7 exon2 c.C700T p.P234S exonic ENSG00000187889.13 . nonsynonymous SNV ENSG00000187889.13:ENST00000343433.7:exon2:c.C700T:p.P234S 1p32.2 C3L-00917 8.532e-06 0.0001 0 0 0 0 0 0 rs754394002 0.18 T T P B N N . T N 0.079 T T T 0.020 0.206 0.061 0.022 . T T T T T 0.001 1.342 0.712 N N -0.819 0.628 -0.915 0.599 0.000 0.487 0.574 0.574 0.564 . 3.700 0.813 0.069 0.224 0.676 0.002 0.040 0.026 958 . . . . FYB2 36 0 31 5 0.138888888888889 TRUE NA +ENSG00000132915.11 . BCM GRCh38.p13 chr5 149863199 149863199 + C C T Nonsense_Mutation SNP ENST00000255266.10 exon21 c.G2426A p.W809X exonic ENSG00000132915.11 . stopgain ENSG00000132915.11:ENST00000255266.10:exon21:c.G2426A:p.W809X 5q32 C3L-00917 . . . . . . . . rs979416907 5.6 . . . . D A . . . 0.789 . . . . . . . . . D D . . 8.797 45 0.996 D N 0.888 10.736 0.758 8.983 1.000 0.554 0.574 0.547 0.621 . 5.040 5.040 7.539 1.026 0.599 1.000 0.999 0.985 822 3'5'-cyclic_nucleotide_phosphodiesterase,_catalytic_domain . . . PDE6A 470 0 285 63 0.181034482758621 TRUE NA +ENSG00000069122.19 . BCM GRCh38.p13 chr6 46878234 46878234 + T T A Missense_Mutation SNP ENST00000283296.12 exon10 c.A1208T p.E403V exonic ENSG00000069122.19 . nonsynonymous SNV ENSG00000069122.19:ENST00000283296.12:exon10:c.A1208T:p.E403V 6p12.3 C3L-00917 . . . . . . . . . 2.19 T T B B N D . T N 0.430 T T T 0.051 0.433 0.043 0.259 T T T T T T 1.799 17.730 0.983 D N -0.215 1.834 -0.110 2.018 0.025 0.646 0.588 0.547 0.723 . 6.020 3.450 0.535 1.138 0.665 0.446 0.821 0.589 726 Immunoglobulin-like_domain . . . ADGRF5 215 0 158 30 0.159574468085106 TRUE TRUE +ENSG00000112320.12 . BCM GRCh38.p13 chr6 107635234 107635234 + - NA G Frame_Shift_Ins NA ENST00000317357.10 exon6 c.2391dupG p.D800Rfs*8 exonic ENSG00000112320.12 . frameshift insertion ENSG00000112320.12:ENST00000317357.10:exon6:c.2391dupG:p.D800Rfs*8 6q21 C3L-00917 6.678e-05 0.0002 0 0 0 9.098e-05 0 0 rs751989931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOBP NA NA NA NA NA NA NA +ENSG00000048052.21 . BCM GRCh38.p13 chr7 18648588 18648588 + C C A Missense_Mutation SNP ENST00000432645.6 exon10 c.C1363A p.P455T exonic ENSG00000048052.21 . nonsynonymous SNV ENSG00000048052.21:ENST00000432645.6:exon10:c.C1363A:p.P455T 7p21.1 C3L-00917 . . . . . . . . . 19.20 D D D D D D M T D 0.899 D D D 0.749 0.379 0.829 0.989 D D D D D D 3.656 25.200 0.998 D D 0.833 9.451 0.804 10.245 1.000 0.732 0.659 0.744 0.655 . 5.480 5.480 7.568 1.026 0.599 1.000 1.000 0.989 865 . . . . HDAC9 312 0 173 42 0.195348837209302 TRUE TRUE +ENSG00000105991.10 . BCM GRCh38.p13 chr7 27094487 27094487 + G G C Missense_Mutation SNP ENST00000643460.2 exon2 c.C961G p.P321A exonic ENSG00000105991.10 . nonsynonymous SNV ENSG00000105991.10:ENST00000643460.2:exon2:c.C961G:p.P321A 7p15.2 C3L-00917 . . . . . . . . . 7.16 T T . . D D . D N 0.158 T D T 0.317 0.199 0.969 0.894 T . T T D T 2.016 19.380 0.833 D D 0.042 2.665 0.214 3.253 1.000 0.615 0.627 0.596 0.655 . 5.310 5.310 5.711 1.176 0.676 1.000 0.970 0.998 440 . . . . HOXA1 203 0 111 26 0.18978102189781 TRUE TRUE +ENSG00000164754.15 . BCM GRCh38.p13 chr8 116854460 116854463 + TTTC TTTC - Frame_Shift_Del DEL ENST00000297338.7 exon9 c.943_946del p.E315Qfs*9 exonic ENSG00000164754.15 . frameshift deletion ENSG00000164754.15:ENST00000297338.7:exon9:c.943_946del:p.E315Qfs*9 8q24.11 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAD21 100 1 65 14 0.177215189873418 TRUE TRUE +ENSG00000056586.16 . BCM GRCh38.p13 chr9 122858884 122858884 + T T C Missense_Mutation SNP ENST00000357244.7 exon12 c.A2068G p.M690V exonic ENSG00000056586.16 . nonsynonymous SNV ENSG00000056586.16:ENST00000357244.7:exon12:c.A2068G:p.M690V 9q33.2 C3L-00917 . . . . . . . . . 3.20 T T B B D D N T N 0.258 T T T 0.026 0.392 0.134 0.405 T T T T T T 1.941 18.800 0.968 D N -0.098 2.182 0.128 2.852 0.996 0.707 0.654 0.725 0.711 . 5.710 5.710 4.086 1.138 0.665 1.000 1.000 0.997 918 . . . . RC3H2 210 0 137 31 0.18452380952381 TRUE NA +ENSG00000205409.3 . BCM GRCh38.p13 chr11 5841576 5841576 + A A T Missense_Mutation SNP ENST00000329322.5 exon1 c.T322A p.F108I exonic ENSG00000205409.3 . nonsynonymous SNV ENSG00000205409.3:ENST00000329322.5:exon1:c.T322A:p.F108I 11p15.4 C3L-00917 . . . . . . . . . 0.20 T T B B N N N T N 0.155 T T T 0.017 0.276 0.040 0.008 T T T T T T -0.597 0.074 0.879 N N -1.277 0.177 -1.333 0.188 0.000 0.487 0.574 0.574 0.564 . 3.550 -5.050 -6.563 1.265 0.719 0.000 0.995 0.985 690 GPCR,_rhodopsin-like,_7TM . . . OR52E6 191 0 133 14 0.0952380952380952 NA TRUE +ENSG00000170776.22 . BCM GRCh38.p13 chr15 85581301 85581301 + C C G Missense_Mutation SNP ENST00000394518.7 exon7 c.C3233G p.T1078S exonic ENSG00000170776.22 . nonsynonymous SNV ENSG00000170776.22:ENST00000394518.7:exon7:c.C3233G:p.T1078S 15q25.3 C3L-00917 . . . . . . . . . 0.18 T T B B . N L T N 0.041 T T T 0.001 0.154 0.324 0.035 T T T T T T -1.112 0.004 0.611 N . -1.427 0.106 -1.443 0.131 1.000 0.732 0.699 0.744 0.592 . 4.940 -2.060 -1.854 -0.798 -0.189 0.000 0.000 0.003 714 . . . . AKAP13 183 0 118 37 0.238709677419355 TRUE TRUE +ENSG00000140836.17 . BCM GRCh38.p13 chr16 72794252 72794252 + A A C Missense_Mutation SNP ENST00000268489.10 exon9 c.T8430G p.I2810M exonic ENSG00000140836.17 . nonsynonymous SNV ENSG00000140836.17:ENST00000268489.10:exon9:c.T8430G:p.I2810M 16q22.2 C3L-00917 . . . . . . . . . 1.20 T T B B N D N T N 0.123 T T T 0.155 0.122 0.043 0.095 T T T T T T -0.014 1.253 0.746 N N -0.807 0.645 -0.718 0.874 0.522 0.707 0.725 0.602 0.714 . 5.960 -2.690 -0.387 0.324 0.756 0.091 1.000 1.000 184 . . . . ZFHX3 109 0 48 24 0.333333333333333 TRUE TRUE +ENSG00000108510.10 . BCM GRCh38.p13 chr17 61956411 61956411 + C C A Missense_Mutation SNP ENST00000397786.7 exon24 c.G5551T p.V1851L exonic ENSG00000108510.10 . nonsynonymous SNV ENSG00000108510.10:ENST00000397786.7:exon24:c.G5551T:p.V1851L 17q23.2 C3L-00917 . . . . . . . . . 12.20 D D B B D D L D N 0.533 T T D 0.548 0.754 0.882 0.186 T T D D D D 2.655 22.700 0.997 D D 0.055 2.711 0.177 3.074 0.968 0.732 0.744 0.725 0.728 . 5.330 4.360 4.734 1.013 0.599 1.000 1.000 0.999 77 . . . . MED13 139 0 82 14 0.145833333333333 TRUE TRUE +ENSG00000077463.15 . BCM GRCh38.p13 chr19 4174802 4174802 + G G C Missense_Mutation SNP ENST00000337491.7 exon8 c.C883G p.P295A exonic ENSG00000077463.15 . nonsynonymous SNV ENSG00000077463.15:ENST00000337491.7:exon8:c.C883G:p.P295A 19p13.3 C3L-00917 . . . . . . . . . 3.20 T T B B N N M T N 0.123 T T D 0.055 0.232 0.375 0.465 T T T T T T 1.371 14.890 0.890 D N -0.517 1.142 -0.377 1.415 0.357 0.660 0.694 0.576 0.568 . 4.280 3.220 1.453 0.950 0.590 0.041 0.272 0.040 934 . . . . SIRT6 89 0 66 4 0.0571428571428571 TRUE TRUE +ENSG00000104880.18 . BCM GRCh38.p13 chr19 7458683 7458683 + G G A Missense_Mutation SNP ENST00000617428.3 exon9 c.G1789A p.V597M exonic ENSG00000104880.18;ENSG00000268861.7 . nonsynonymous SNV ENSG00000104880.18:ENST00000617428.3:exon9:c.G1789A:p.V597M 19p13.2 C3L-00917 . . . . . . . . . 13.18 D T D P D D . T D 0.740 D D D 0.532 0.623 0.227 1.014 T . D T D D 3.967 26.800 0.999 D D 0.557 5.512 0.477 4.955 1.000 0.732 0.698 0.744 0.714 . 4.990 4.990 6.516 1.176 0.618 1.000 0.782 0.816 906 . . . . ARHGEF18 98 0 55 17 0.236111111111111 TRUE NA +ENSG00000211637.2 . BCM GRCh38.p13 chr22 22031195 22031195 + C C G Missense_Mutation SNP ENST00000390282.2 exon2 c.C82G p.P28A exonic ENSG00000211637.2 . nonsynonymous SNV ENSG00000211637.2:ENST00000390282.2:exon2:c.C82G:p.P28A 22q11.22 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLV4-69 124 0 71 20 0.21978021978022 TRUE TRUE +ENSG00000128285.4 . BCM GRCh38.p13 chr22 40681200 40681200 + G G A Missense_Mutation SNP ENST00000249016.4 exon2 c.G541A p.G181R exonic ENSG00000128285.4 . nonsynonymous SNV ENSG00000128285.4:ENST00000249016.4:exon2:c.G541A:p.G181R 22q13.2 C3L-00917 . . . . . . . . . 17.20 D D D D D D M T D 0.944 T T D 0.745 0.961 0.898 0.640 D D D D D D 4.238 29.000 0.999 D D 0.996 13.798 0.931 15.162 1.000 0.653 0.547 0.676 0.530 . 5.230 5.230 9.885 1.176 0.671 1.000 0.997 0.999 224 GPCR,_rhodopsin-like,_7TM . . . MCHR1 462 0 279 83 0.229281767955801 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146512 10146512 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon2:c.341-2A>G . . 3p25.3 C3L-00917 . . . . . . . . rs869025637 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.183 33 0.991 D . 0.928 11.797 0.720 8.135 1.000 0.164 0.194 0.232 0.082 0.954 4.980 4.980 7.167 1.312 0.756 1.000 0.994 0.972 370 . . . ID=COSV56544966;OCCURENCE=10(kidney) VHL 328 0 162 49 0.232227488151659 TRUE TRUE +ENSG00000162909.18 . BCM GRCh38.p13 chr1 223752060 223752060 + T T C Silent SNP ENST00000295006.6 exon8 c.T963C p.D321D exonic ENSG00000162909.18 . synonymous SNV ENSG00000162909.18:ENST00000295006.6:exon8:c.T963C:p.D321D 1q41 C3L-00917 . . . . . . . . rs547196428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAPN2 115 0 87 21 0.194444444444444 TRUE NA +ENSG00000052749.14 . BCM GRCh38.p13 chr10 97366133 97366133 + C C T Silent SNP ENST00000370992.9 exon29 c.G3492A p.K1164K exonic ENSG00000052749.14 . synonymous SNV ENSG00000052749.14:ENST00000370992.9:exon29:c.G3492A:p.K1164K 10q24.1 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RRP12 349 0 203 39 0.161157024793388 TRUE TRUE +ENSG00000184933.5 . BCM GRCh38.p13 chr11 6795265 6795265 + C C T Silent SNP ENST00000641196.1 exon2 c.G444A p.Q148Q exonic ENSG00000184933.5 . synonymous SNV ENSG00000184933.5:ENST00000641196.1:exon2:c.G444A:p.Q148Q 11p15.4 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100215612;OCCURENCE=1(central_nervous_system) OR6A2 371 0 201 57 0.22093023255814 TRUE TRUE +ENSG00000057149.16 . BCM GRCh38.p13 chr18 63659486 63659486 + A A G Silent SNP ENST00000283752.10 exon4 c.T264C p.L88L exonic ENSG00000057149.16 . synonymous SNV ENSG00000057149.16:ENST00000283752.10:exon4:c.T264C:p.L88L 18q21.33 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINB3 223 0 156 41 0.208121827411168 NA TRUE +ENSG00000177689.10 . BCM GRCh38.p13 chrX 27821930 27821930 + G G T Silent SNP ENST00000356790.2 exon3 c.G624T p.L208L exonic ENSG00000177689.10 . synonymous SNV ENSG00000177689.10:ENST00000356790.2:exon3:c.G624T:p.L208L Xp21.3 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63313039;OCCURENCE=1(breast),1(skin),1(prostate) MAGEB10 119 0 101 10 0.0900900900900901 TRUE TRUE +ENSG00000156920.11 . BCM GRCh38.p13 chrX 136349856 136349856 + G G A Silent SNP ENST00000394143.6 exon6 c.G6150A p.A2050A exonic ENSG00000156920.11 . synonymous SNV ENSG00000156920.11:ENST00000394143.6:exon6:c.G6150A:p.A2050A Xq26.3 C3L-00917 1.143e-05 0 0.0001 0 0 0 0 0 rs770791343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRG4 114 0 92 10 0.0980392156862745 TRUE NA +ENSG00000113448.19 . BCM GRCh38.p13 chr5 59988667 59988667 + G G A IGR SNP NA NA NA NA intergenic ENSG00000113448.19;ENSG00000248935.1 dist=94941;dist=32582 . . 5q12.1 C3L-00917 0.0001 0 0 0 0 3.088e-05 0 0.0007 rs375580342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV72352769;OCCURENCE=1(breast),1(upper_aerodigestive_tract) PDE4D 87 0 73 13 0.151162790697674 TRUE TRUE +ENSG00000258738.1 . BCM GRCh38.p13 chr14 34875238 34875238 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000258738.1 . . . 14q13.2 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL121603.2 113 0 63 18 0.222222222222222 TRUE NA +ENSG00000186806.5 . BCM GRCh38.p13 chr19 51332548 51332548 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000186806.5 ENST00000335624.4:c.*63G>A . . 19q13.41 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VSIG10L 200 0 113 16 0.124031007751938 TRUE NA +ENSG00000184385.2 . BCM GRCh38.p13 chr21 42108361 42108361 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000184385.2 . . . 21q22.3 C3L-00917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UMODL1-AS1 163 0 99 24 0.195121951219512 TRUE NA +ENSG00000237330.3 . BCM GRCh38.p13 chr1 1072430 1072430 + G G T Missense_Mutation SNP ENST00000453464.3 exon2 c.C137A p.A46D exonic ENSG00000237330.3 . nonsynonymous SNV ENSG00000237330.3:ENST00000453464.3:exon2:c.C137A:p.A46D 1p36.33 C3L-01281 . . . . . . . . . 6.17 T D . . . N L D N 0.332 T T D 0.233 0.143 0.544 . T T T T D T 3.675 25.300 0.993 D D 0.023 2.594 0.108 2.767 1.000 0.581 0.627 0.578 0.563 . 4.550 3.550 3.219 1.083 0.616 1.000 0.995 0.984 940 . . . . RNF223 52 0 24 11 0.314285714285714 TRUE TRUE +ENSG00000116731.22 . BCM GRCh38.p13 chr1 13782764 13782764 + G G A Missense_Mutation SNP ENST00000235372.11 exon8 c.G4969A p.A1657T exonic ENSG00000116731.22 . nonsynonymous SNV ENSG00000116731.22:ENST00000235372.11:exon8:c.G4969A:p.A1657T 1p36.21 C3L-01281 . . . . . . . . . 7.20 D D P B N D M T N 0.394 T T T 0.130 0.238 0.287 0.182 T T T T D D 2.677 22.800 0.996 D N 0.397 4.326 0.509 5.244 1.000 0.707 0.698 0.693 0.714 . 6.070 6.070 3.936 1.176 0.676 1.000 0.984 0.829 970 . . . . PRDM2 62 0 61 25 0.290697674418605 TRUE TRUE +ENSG00000126698.11 . BCM GRCh38.p13 chr1 28228991 28228994 + TAGA TAGA - Frame_Shift_Del DEL ENST00000263697.6 exon2 c.108_111del p.T38Rfs*8 exonic ENSG00000126698.11 . frameshift deletion ENSG00000126698.11:ENST00000263697.6:exon2:c.108_111del:p.T38Rfs*8 1p35.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJC8 133 0 141 22 0.134969325153374 TRUE TRUE +ENSG00000171793.16 . BCM GRCh38.p13 chr1 40987462 40987462 + G G T Missense_Mutation SNP ENST00000650070.2 exon4 c.G428T p.C143F exonic ENSG00000171793.16 . nonsynonymous SNV ENSG00000171793.16:ENST00000650070.2:exon4:c.G428T:p.C143F 1p34.2 C3L-01281 . . . . . . . . . 18.20 D D D D D D H T D 0.843 D T D 0.663 0.496 0.859 2.553 D D D D D D 4.425 31 0.992 D D 1.142 19.554 1.064 23.439 1.000 0.707 0.698 0.725 0.714 . 5.910 5.910 9.356 1.176 0.676 1.000 1.000 0.999 645 CTP_synthase,_N-terminal . . . CTPS1 116 0 137 59 0.301020408163265 TRUE TRUE +ENSG00000198160.14 . BCM GRCh38.p13 chr1 66981831 66981831 + G G A Missense_Mutation SNP ENST00000355356.3 exon12 c.G1123A p.A375T exonic ENSG00000198160.14 . nonsynonymous SNV ENSG00000198160.14:ENST00000355356.3:exon12:c.G1123A:p.A375T 1p31.3 C3L-01281 . . . . . . . . . 8.18 T T . . D D M T N 0.605 T T D 0.146 . 0.606 0.474 T T T T D D 3.217 23.900 0.999 D D 0.595 5.868 0.605 6.281 1.000 0.707 0.696 0.725 0.711 . 5.680 5.680 9.588 1.176 0.676 1.000 0.968 0.384 808 . . . . MIER1 193 1 214 86 0.286666666666667 TRUE TRUE +ENSG00000264522.6 . BCM GRCh38.p13 chr1 149944320 149944320 + G G C Missense_Mutation SNP ENST00000581312.6 exon12 c.C2069G p.T690S exonic ENSG00000264522.6 . nonsynonymous SNV ENSG00000264522.6:ENST00000581312.6:exon12:c.C2069G:p.T690S 1q21.2 C3L-01281 8.408e-06 0 0 0 0 1.515e-05 0 0 rs782242001 2.18 . T B B N N N T . 0.037 T T T 0.090 0.159 0.469 . T T T T T T 1.373 14.900 0.169 D D -0.239 1.770 -0.052 2.191 1.000 0.745 0.654 0.732 0.636 . 4.400 4.400 5.934 1.176 0.674 1.000 0.950 0.819 226 . . . . OTUD7B 73 0 54 13 0.194029850746269 TRUE NA +ENSG00000085552.17 . BCM GRCh38.p13 chr1 159934556 159934556 + C C T Missense_Mutation SNP ENST00000368094.6 exon8 c.G830A p.R277Q exonic ENSG00000085552.17 . nonsynonymous SNV ENSG00000085552.17:ENST00000368094.6:exon8:c.G830A:p.R277Q 1q23.2 C3L-01281 1.708e-05 0 0 0 0 1.555e-05 0 6.138e-05 rs754716697 12.20 D D D D N D M T D 0.663 T T D 0.377 0.664 0.694 0.971 T T T T D D 4.396 31 0.999 D D 0.755 7.965 0.673 7.272 1.000 0.707 0.590 0.725 0.639 . 4.520 4.520 7.522 1.026 0.544 0.996 0.997 0.740 873 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IGSF9 90 0 130 7 0.0510948905109489 TRUE NA +ENSG00000042781.14 . BCM GRCh38.p13 chr1 215934626 215934626 + C C T Missense_Mutation SNP ENST00000307340.8 exon38 c.G7290A p.M2430I exonic ENSG00000042781.14 . nonsynonymous SNV ENSG00000042781.14:ENST00000307340.8:exon38:c.G7290A:p.M2430I 1q41 C3L-01281 . . . . . . . . . 8.20 T T D D D D M T N 0.372 T T D 0.156 0.356 0.860 0.038 T T T T D T 3.057 23.500 0.980 D N 0.563 5.569 0.538 5.525 0.155 0.554 0.574 0.618 0.564 . 5.880 5.880 1.327 1.026 0.599 1.000 0.967 0.865 796 Fibronectin_type_III . . . USH2A 179 0 190 54 0.221311475409836 TRUE TRUE +ENSG00000163792.6 . BCM GRCh38.p13 chr2 27152766 27152766 + A A G Missense_Mutation SNP ENST00000296096.6 exon3 c.A544G p.S182G exonic ENSG00000163792.6 . nonsynonymous SNV ENSG00000163792.6:ENST00000296096.6:exon3:c.A544G:p.S182G 2p23.3 C3L-01281 . . . . . . . . . 3.20 T T B B N N N D N 0.022 T D D 0.197 0.143 0.102 0.336 T T T T T T -0.467 0.139 0.599 N N -1.533 0.071 -1.508 0.105 0.049 0.403 0.547 0.547 0.563 . 4.870 -1.740 0.035 -0.138 -0.137 0.003 0.012 0.028 295 . . . . TCF23 105 0 105 44 0.295302013422819 TRUE TRUE +ENSG00000115977.19 . BCM GRCh38.p13 chr2 69509387 69509387 + C C T Missense_Mutation SNP ENST00000409085.9 exon14 c.G1850A p.G617E exonic ENSG00000115977.19 . nonsynonymous SNV ENSG00000115977.19:ENST00000409085.9:exon14:c.G1850A:p.G617E 2p13.3 C3L-01281 . . . . . . . . . 15.20 D D D D D D M T D 0.746 T T D 0.296 0.398 0.617 1.302 T T D D D D 3.835 26.000 0.992 D D 0.547 5.423 0.608 6.327 1.000 0.732 0.654 0.744 0.714 . 5.730 5.730 7.176 1.026 0.599 1.000 1.000 0.994 693 . . . . AAK1 250 0 267 75 0.219298245614035 TRUE TRUE +ENSG00000144035.4 . BCM GRCh38.p13 chr2 73641388 73641388 + G G A Missense_Mutation SNP ENST00000272425.4 exon2 c.C241T p.P81S exonic ENSG00000144035.4 . nonsynonymous SNV ENSG00000144035.4:ENST00000272425.4:exon2:c.C241T:p.P81S 2p13.1 C3L-01281 . . . . . . . . . 1.20 T T B B N N L T D 0.090 T T T 0.021 0.450 0.157 0.005 T T T T T T 0.357 4.947 0.754 N N -0.999 0.405 -1.034 0.448 0.998 0.487 0.590 0.574 0.542 . 3.860 1.830 0.039 0.907 0.584 0.000 0.007 0.003 393 GNAT_domain . . . NAT8 105 0 123 31 0.201298701298701 TRUE TRUE +ENSG00000019169.10 . BCM GRCh38.p13 chr2 118974366 118974366 + C C A Missense_Mutation SNP ENST00000327097.4 exon5 c.C494A p.P165H exonic ENSG00000019169.10 . nonsynonymous SNV ENSG00000019169.10:ENST00000327097.4:exon5:c.C494A:p.P165H 2q14.2 C3L-01281 . . . . . . . . . 14.20 D D D D N N M D D 0.350 D D D 0.300 . 0.912 0.347 T D D D T D 2.102 20.100 0.666 N N 0.016 2.569 -0.185 1.823 1.000 0.487 0.563 0.547 0.564 . 4.330 4.330 0.710 0.979 0.599 0.000 0.004 0.007 932 . . . . MARCO 148 0 126 10 0.0735294117647059 TRUE TRUE +ENSG00000073734.10 . BCM GRCh38.p13 chr2 168971930 168971930 + C C A Missense_Mutation SNP ENST00000650372.1 exon14 c.G1555T p.G519C exonic ENSG00000073734.10 . nonsynonymous SNV ENSG00000073734.10:ENST00000650372.1:exon14:c.G1555T:p.G519C 2q31.1 C3L-01281 . . . . . . . . . 19.20 D D D D D D H D D 0.983 D D D 0.955 0.972 0.979 0.650 T D D D D D 4.222 28.900 0.997 D D 1.016 14.437 0.961 16.646 1.000 0.487 0.590 0.574 0.613 . 5.830 5.830 7.899 1.026 0.599 1.000 0.972 0.975 841 ABC_transporter-like;AAA+_ATPase_domain . . . ABCB11 248 0 274 78 0.221590909090909 TRUE TRUE +ENSG00000082146.13 . BCM GRCh38.p13 chr2 201474650 201474650 + G G - Frame_Shift_Del DEL ENST00000194530.8 exon6 c.319delG p.A107Pfs*2 exonic ENSG00000082146.13 . frameshift deletion ENSG00000082146.13:ENST00000194530.8:exon6:c.319delG:p.A107Pfs*2 2q33.1 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STRADB 212 0 101 36 0.262773722627737 TRUE TRUE +ENSG00000123983.14 . BCM GRCh38.p13 chr2 222934540 222934540 + - NA A Nonsense_Mutation SNP ENST00000357430.8 exon16 c.1859dupA p.Y620* exonic ENSG00000123983.14 . stopgain ENSG00000123983.14:ENST00000357430.8:exon16:c.1859dupA:p.Y620* 2q36.1 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACSL3 NA NA NA NA NA NA NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142179 10142179 + G G T Missense_Mutation SNP ENST00000256474.3 exon1 c.G332T p.S111I exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.G332T:p.S111I 3p25.3 C3L-01281 . . . . . . . . rs869025631 17.20 D D D D D N L D D 0.792 D D D 0.723 0.765 0.999 1.146 D D D D D T 4.332 29.800 0.996 D D 0.226 3.420 0.245 3.410 1.000 0.442 0.522 0.522 0.562 . 5.170 3.370 4.016 1.002 0.522 1.000 1.000 0.977 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543921;OCCURENCE=4(kidney) VHL 225 0 132 88 0.4 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52617365 52617365 + T T A Missense_Mutation SNP ENST00000296302.11 exon14 c.A1715T p.E572V exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon14:c.A1715T:p.E572V 3p21.1 C3L-01281 . . . . . . . . . 15.20 D D D D D D M T D 0.716 T T D 0.546 0.623 0.704 1.416 T T D D D D 4.172 28.400 0.994 D D 0.883 10.609 0.852 11.858 1.000 0.707 0.725 0.725 0.714 . 5.840 5.840 8.017 1.138 0.665 1.000 1.000 1.000 27 Bromodomain,_conserved_site;Bromodomain . . . PBRM1 201 0 180 17 0.0862944162436548 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52629019 52629019 + G G A Nonsense_Mutation SNP ENST00000296302.11 exon12 c.C1318T p.Q440X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon12:c.C1318T:p.Q440X 3p21.1 C3L-01281 . . . . . . . . . 5.6 . . . . D A . . . 0.897 . . . . . . . . . D D . . 7.604 38 0.997 D N 0.951 12.449 0.802 10.175 0.240 0.732 0.744 0.651 0.728 . 5.380 5.380 3.104 1.176 0.618 1.000 1.000 0.994 30 Bromodomain,_conserved_site;Bromodomain . . ID=COSV56282176;OCCURENCE=3(kidney) PBRM1 149 0 69 13 0.158536585365854 TRUE TRUE +ENSG00000168917.9 . BCM GRCh38.p13 chr3 136854890 136854890 + C C A Missense_Mutation SNP ENST00000446465.3 exon2 c.C430A p.Q144K exonic ENSG00000168917.9 . nonsynonymous SNV ENSG00000168917.9:ENST00000446465.3:exon2:c.C430A:p.Q144K 3q22.3 C3L-01281 . . . . . . . . . 14.20 D D D D D D L T D 0.922 T T D 0.583 0.740 0.689 0.638 T T D D D D 3.538 24.800 0.996 D D 0.508 5.097 0.574 5.918 1.000 0.707 0.588 0.659 0.714 . 5.570 5.570 7.453 0.947 0.549 1.000 0.995 0.995 719 EamA_domain . . . SLC35G2 208 0 232 86 0.270440251572327 TRUE TRUE +ENSG00000159733.14 . BCM GRCh38.p13 chr4 2320222 2320222 + C C T Missense_Mutation SNP ENST00000290974.7 exon7 c.G751A p.E251K exonic ENSG00000159733.14 . nonsynonymous SNV ENSG00000159733.14:ENST00000290974.7:exon7:c.G751A:p.E251K 4p16.3 C3L-01281 . . . . . . . . . 13.20 D T D D D D M T D 0.715 T T D 0.195 0.315 0.297 2.244 D T T T D D 4.116 27.900 0.999 D D 0.722 7.432 0.694 7.635 1.000 0.615 0.574 0.576 0.655 . 5.410 5.410 6.126 0.932 0.581 1.000 0.910 0.951 873 . . . . ZFYVE28 174 0 158 60 0.275229357798165 TRUE TRUE +ENSG00000151834.15 . BCM GRCh38.p13 chr4 46261971 46261972 + GG GG - Frame_Shift_Del DEL ENST00000510861.5 exon9 c.1013_1014del p.T338Kfs*14 exonic ENSG00000151834.15 . frameshift deletion ENSG00000151834.15:ENST00000510861.5:exon9:c.1013_1014del:p.T338Kfs*14 4p12 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABRA2 231 0 269 92 0.254847645429363 TRUE TRUE +ENSG00000138814.17 . BCM GRCh38.p13 chr4 101196029 101196029 + T T C Missense_Mutation SNP ENST00000394854.8 exon2 c.A146G p.H49R exonic ENSG00000138814.17 . nonsynonymous SNV ENSG00000138814.17:ENST00000394854.8:exon2:c.A146G:p.H49R 4q24 C3L-01281 . . . . . . . . . 19.20 D D D D D D M T D 0.992 D D D 0.603 0.396 0.812 2.499 D D D D D D 3.737 25.600 0.991 D D 0.926 11.746 0.857 12.038 1.000 0.706 0.670 0.710 0.613 . 5.650 5.650 7.732 1.138 0.665 1.000 0.999 0.985 946 . . . . PPP3CA 152 0 161 82 0.337448559670782 TRUE TRUE +ENSG00000145715.15 . BCM GRCh38.p13 chr5 87390879 87390879 + G G - Frame_Shift_Del DEL ENST00000274376.11 exon25 c.3140delG p.R1047Sfs*54 exonic ENSG00000145715.15 . frameshift deletion ENSG00000145715.15:ENST00000274376.11:exon25:c.3140delG:p.R1047Sfs*54 5q14.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASA1 364 0 325 104 0.242424242424242 TRUE TRUE +ENSG00000120149.9 . BCM GRCh38.p13 chr5 174729264 174729264 + G G A Missense_Mutation SNP ENST00000239243.7 exon2 c.G485A p.R162H exonic ENSG00000120149.9 . nonsynonymous SNV ENSG00000120149.9:ENST00000239243.7:exon2:c.G485A:p.R162H 5q35.2 C3L-01281 1.648e-05 0 8.646e-05 0 0 1.499e-05 0 0 rs766037353 17.20 T T D D D D L D D 0.600 D D D 0.690 0.541 0.994 1.103 D D D D D D 3.980 26.800 0.999 D D 0.696 7.069 0.756 8.942 1.000 0.443 0.563 0.666 0.542 . 5.720 5.720 9.940 1.175 0.618 1.000 1.000 0.990 979 Homeobox_domain . . . MSX2 252 0 459 38 0.0764587525150905 TRUE NA +ENSG00000146109.5 . BCM GRCh38.p13 chr6 26597052 26597052 + G G T Missense_Mutation SNP ENST00000274849.3 exon1 c.G70T p.D24Y exonic ENSG00000146109.5 . nonsynonymous SNV ENSG00000146109.5:ENST00000274849.3:exon1:c.G70T:p.D24Y 6p22.2 C3L-01281 . . . . . . . . . 2.19 D D B B N N N . N 0.289 T T T 0.052 0.212 0.215 0.863 T T T T T T 2.279 21.400 0.698 N N -0.497 1.182 -0.498 1.205 1.000 0.442 0.522 0.522 0.562 . 4.130 4.130 2.010 1.172 0.672 0.021 0.005 0.013 520 . . . . ABT1 225 0 269 24 0.0819112627986348 TRUE TRUE +ENSG00000188107.15 . BCM GRCh38.p13 chr6 64822651 64822651 + C C T Missense_Mutation SNP ENST00000370621.7 exon20 c.G3164A p.R1055K exonic ENSG00000188107.15 . nonsynonymous SNV ENSG00000188107.15:ENST00000370621.7:exon20:c.G3164A:p.R1055K 6q12 C3L-01281 . . . . . . . . . 6.20 T D P P U N L D N 0.253 T T D 0.349 0.499 0.483 0.043 T T T T D T 3.279 24.100 0.974 D D 0.198 3.293 0.262 3.504 0.000 0.487 0.574 0.574 0.564 . 5.900 4.110 2.153 1.007 0.598 1.000 0.981 0.995 809 EGF-like_domain;EGF-like_calcium-binding_domain . . . EYS 146 0 96 11 0.102803738317757 TRUE TRUE +ENSG00000120438.12 . BCM GRCh38.p13 chr6 159779086 159779086 + T T - Frame_Shift_Del DEL ENST00000321394.12 exon12 c.1630delA p.S544Vfs*38 exonic ENSG00000120438.12 . frameshift deletion ENSG00000120438.12:ENST00000321394.12:exon12:c.1630delA:p.S544Vfs*38 6q25.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCP1 146 0 136 46 0.252747252747253 NA TRUE +ENSG00000106571.14 . BCM GRCh38.p13 chr7 42048558 42048558 + G G C Missense_Mutation SNP ENST00000395925.8 exon5 c.C612G p.I204M exonic ENSG00000106571.14 . nonsynonymous SNV ENSG00000106571.14:ENST00000395925.8:exon5:c.C612G:p.I204M 7p14.1 C3L-01281 1.647e-05 0 0.0002 0 0 0 0 0 rs760701023 4.20 T T B B D D L T N 0.721 T T T 0.221 0.095 0.817 0.622 T T T T T D 2.089 19.930 0.994 D N -0.044 2.357 0.062 2.585 0.183 0.706 0.563 0.710 0.636 . 5.550 3.680 3.333 0.184 0.616 1.000 0.929 0.930 871 . . . . GLI3 379 0 536 49 0.0837606837606838 TRUE NA +ENSG00000146757.14 . BCM GRCh38.p13 chr7 65399285 65399285 + C C T Missense_Mutation SNP ENST00000328747.12 exon4 c.C1171T p.H391Y exonic ENSG00000146757.14 . nonsynonymous SNV ENSG00000146757.14:ENST00000328747.12:exon4:c.C1171T:p.H391Y 7q11.21 C3L-01281 . . . . . . . . . 11.19 D D D D . D M T D 0.311 D D T 0.201 0.693 0.489 0.563 T T T T D T 1.319 14.520 0.991 D N -0.013 2.464 -0.272 1.623 1.000 0.707 0.725 0.725 0.636 . 0.418 0.418 3.016 0.583 0.452 0.990 0.017 0.075 413 Zinc_finger_C2H2-type . . . ZNF92 182 0 171 55 0.243362831858407 NA TRUE +ENSG00000008277.14 . BCM GRCh38.p13 chr7 88156003 88156003 + G G A Missense_Mutation SNP ENST00000265727.11 exon22 c.G1904A p.C635Y exonic ENSG00000008277.14 . nonsynonymous SNV ENSG00000008277.14:ENST00000265727.11:exon22:c.G1904A:p.C635Y 7q21.12 C3L-01281 . . . . . . . . . 18.20 D D D D D D H T D 0.978 D D D 0.781 0.958 0.838 1.858 D T D D D D 4.251 29.100 0.998 D D 1.055 15.742 0.968 16.986 1.000 0.706 0.710 0.659 0.621 . 5.350 5.350 9.356 1.176 0.676 1.000 1.000 0.998 838 ADAM,_cysteine-rich . . . ADAM22 86 0 113 8 0.0661157024793388 TRUE NA +ENSG00000055609.18 . BCM GRCh38.p13 chr7 152330714 152330715 + CT CT - Frame_Shift_Del DEL ENST00000262189.11 exon3 c.275_276del p.E92Gfs*3 exonic ENSG00000055609.18 . frameshift deletion ENSG00000055609.18:ENST00000262189.11:exon3:c.275_276del:p.E92Gfs*3 7q36.1 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2C 113 0 151 8 0.050314465408805 NA TRUE +ENSG00000147601.14 . BCM GRCh38.p13 chr8 73027043 73027043 + C C A Missense_Mutation SNP ENST00000276603.10 exon6 c.C878A p.T293K exonic ENSG00000147601.14 . nonsynonymous SNV ENSG00000147601.14:ENST00000276603.10:exon6:c.C878A:p.T293K 8q21.11 C3L-01281 . . . . . . . . . 0.19 T T B B N N N . N 0.101 T T T 0.019 0.239 0.110 0.180 T T T T T T 0.344 4.800 0.455 N N -1.321 0.154 -1.304 0.206 1.000 0.672 0.709 0.702 0.684 . 5.370 -5.310 -0.063 -1.059 -0.217 0.026 0.169 0.977 942 . . . . TERF1 107 0 105 6 0.0540540540540541 NA TRUE +ENSG00000107104.19 . BCM GRCh38.p13 chr9 711886 711886 + A A - Frame_Shift_Del DEL ENST00000619269.4 exon4 c.1120delA p.M374Cfs*36 exonic ENSG00000107104.19 . frameshift deletion ENSG00000107104.19:ENST00000619269.4:exon4:c.1120delA:p.M374Cfs*36 9p24.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANK1 189 0 174 51 0.226666666666667 TRUE TRUE +ENSG00000106785.15 . BCM GRCh38.p13 chr9 98087987 98087987 + A A G Missense_Mutation SNP ENST00000341469.7 exon6 c.T812C p.L271P exonic ENSG00000106785.15 . nonsynonymous SNV ENSG00000106785.15:ENST00000341469.7:exon6:c.T812C:p.L271P 9q22.33 C3L-01281 . . . . . . . . . 13.20 D D D D N D H T D 0.769 T T D 0.433 0.439 0.773 1.960 T T D D D T 4.599 32 0.998 D D 0.671 6.737 0.547 5.622 1.000 0.726 0.702 0.594 0.710 . 4.600 4.600 4.135 1.228 0.580 0.997 1.000 0.984 678 0.000 . . . TRIM14 134 0 73 27 0.27 TRUE TRUE +ENSG00000198870.8 . BCM GRCh38.p13 chr9 133400413 133400413 + G G C Missense_Mutation SNP ENST00000371957.4 exon12 c.G1082C p.G361A exonic ENSG00000198870.8 . nonsynonymous SNV ENSG00000198870.8:ENST00000371957.4:exon12:c.G1082C:p.G361A 9q34.2 C3L-01281 . . . . . . . . . 7.18 T D D P N D . T D 0.399 T T D 0.185 0.531 0.421 0.315 . T T T D T 3.807 25.900 0.992 D N 0.472 4.826 0.452 4.753 1.000 0.010 0.514 0.514 0.646 . 4.690 3.700 2.582 1.164 0.662 1.000 0.624 0.725 934 . . . . STKLD1 83 0 105 9 0.0789473684210526 TRUE TRUE +ENSG00000196793.13 . BCM GRCh38.p13 chr10 43557607 43557607 + T T C Missense_Mutation SNP ENST00000306006.10 exon2 c.A473G p.H158R exonic ENSG00000196793.13 . nonsynonymous SNV ENSG00000196793.13:ENST00000306006.10:exon2:c.A473G:p.H158R 10q11.21 C3L-01281 . . . . . . . . . 0.19 T T B B . N N T N 0.029 T T T 0.035 0.583 0.088 0.054 T T T T T T -1.075 0.005 0.534 N N -1.277 0.178 -1.387 0.158 0.052 0.638 0.588 0.653 0.621 . 4.180 -6.670 -2.592 -0.734 -0.109 0.000 0.009 0.337 824 . . . . ZNF239 132 0 181 12 0.0621761658031088 TRUE TRUE +ENSG00000099290.17 . BCM GRCh38.p13 chr10 50129734 50129734 + A A G Missense_Mutation SNP ENST00000282633.10 exon29 c.A3403G p.I1135V exonic ENSG00000099290.17 . nonsynonymous SNV ENSG00000099290.17:ENST00000282633.10:exon29:c.A3403G:p.I1135V 10q11.23 C3L-01281 . . . . . . . . . 4.18 T T P P D N . . N 0.108 T T T 0.067 0.317 0.043 . T T T T D D 1.843 18.050 0.998 D N -0.042 2.365 -0.046 2.210 0.000 0.693 0.659 0.659 0.564 . 4.030 2.770 1.132 1.284 0.539 0.983 0.623 0.893 883 . . . . WASHC2A 803 0 1057 101 0.0872193436960276 NA TRUE +ENSG00000107854.6 . BCM GRCh38.p13 chr10 91862943 91862943 + C C T Missense_Mutation SNP ENST00000371627.5 exon27 c.C3445T p.P1149S exonic ENSG00000107854.6 . nonsynonymous SNV ENSG00000107854.6:ENST00000371627.5:exon27:c.C3445T:p.P1149S 10q23.32 C3L-01281 . . . . . . . . . 16.20 D D D D D D H T D 0.696 T T D 0.553 0.605 0.445 1.295 T D D D D D 3.855 26.100 0.999 D D 1.018 14.487 0.946 15.855 1.000 0.732 0.709 0.744 0.735 . 5.470 5.470 7.701 1.026 0.599 1.000 1.000 1.000 899 Poly(ADP-ribose)_polymerase,_catalytic_domain . . . TNKS2 90 0 98 28 0.222222222222222 TRUE TRUE +ENSG00000149091.15 . BCM GRCh38.p13 chr11 46379552 46379552 + T T C Missense_Mutation SNP ENST00000456247.6 exon30 c.T2654C p.M885T exonic ENSG00000149091.15 . nonsynonymous SNV ENSG00000149091.15:ENST00000456247.6:exon30:c.T2654C:p.M885T 11p11.2 C3L-01281 . . . . . . . . . 9.20 T T B B D D N T N 0.744 T T D 0.359 0.492 0.818 1.050 D T D D D T 2.422 22.200 0.927 D D -0.437 1.304 -0.199 1.787 1.000 0.635 0.644 0.522 0.646 . 4.270 4.270 3.392 1.138 0.665 1.000 0.997 0.996 34 Ankyrin_repeat-containing_domain . . . DGKZ 61 0 52 20 0.277777777777778 TRUE TRUE +ENSG00000175581.14 . BCM GRCh38.p13 chr11 73863225 73863225 + C C G Missense_Mutation SNP ENST00000310614.12 exon7 c.C528G p.S176R exonic ENSG00000175581.14 . nonsynonymous SNV ENSG00000175581.14:ENST00000310614.12:exon7:c.C528G:p.S176R 11q13.4 C3L-01281 . . . . . . . . . 2.20 T T B B N D L T N 0.351 T T T 0.056 0.304 0.466 0.148 T T T T T T 1.867 18.230 0.987 D N -0.336 1.527 -0.162 1.879 0.657 0.707 0.725 0.702 0.714 . 5.330 4.380 -0.089 1.026 0.599 0.884 1.000 0.996 220 Ribosomal_protein_S10_domain . . . MRPL48 121 0 109 31 0.221428571428571 TRUE TRUE +ENSG00000150687.12 . BCM GRCh38.p13 chr11 86808088 86808088 + C C T Missense_Mutation SNP ENST00000280258.6 exon2 c.C445T p.P149S exonic ENSG00000150687.12 . nonsynonymous SNV ENSG00000150687.12:ENST00000280258.6:exon2:c.C445T:p.P149S 11q14.2 C3L-01281 . . . . . . . . . 20.20 D D D D D D M D D 0.847 D D D 0.832 0.845 0.981 0.750 D D D D D D 3.757 25.600 0.999 D D 0.874 10.398 0.854 11.929 1.000 0.672 0.590 0.805 0.711 . 5.800 5.800 7.476 1.026 0.599 1.000 0.999 0.998 833 Serine_proteases,_trypsin_domain . . . PRSS23 241 0 256 50 0.163398692810458 TRUE TRUE +ENSG00000182379.10 . BCM GRCh38.p13 chr12 57225517 57225517 + T T A Missense_Mutation SNP ENST00000349394.6 exon2 c.T697A p.C233S exonic ENSG00000182379.10 . nonsynonymous SNV ENSG00000182379.10:ENST00000349394.6:exon2:c.T697A:p.C233S 12q13.3 C3L-01281 . . . . . . . . . 15.19 D D D D D D L . D 0.947 T T D 0.565 0.806 0.173 2.167 D T D D D D 4.291 29.500 0.994 D D 0.550 5.448 0.498 5.140 1.000 0.765 0.628 0.641 0.639 . 3.980 3.980 7.755 0.972 0.576 1.000 1.000 0.997 397 . . . . NXPH4 281 0 293 124 0.297362110311751 TRUE TRUE +ENSG00000132972.19 . BCM GRCh38.p13 chr13 24764305 24764305 + G G T Missense_Mutation SNP ENST00000255324.10 exon1 c.G102T p.R34S exonic ENSG00000132972.19 . nonsynonymous SNV ENSG00000132972.19:ENST00000255324.10:exon1:c.G102T:p.R34S 13q12.12 C3L-01281 . . . . . . . . rs763054291 4.20 D D B B N N L D N 0.461 T T D 0.188 0.336 0.123 0.253 T T T T T T 1.275 14.200 0.973 N N -0.603 0.982 -0.633 0.997 0.001 0.487 0.574 0.547 0.564 . 4.400 2.610 -0.296 0.224 0.676 0.014 0.791 0.762 964 Zinc_finger,_RING-type . . . RNF17 53 0 121 16 0.116788321167883 TRUE NA +ENSG00000132938.21 . BCM GRCh38.p13 chr13 29025065 29025065 + A A T Missense_Mutation SNP ENST00000612955.5 exon3 c.A367T p.T123S exonic ENSG00000132938.21 . nonsynonymous SNV ENSG00000132938.21:ENST00000612955.5:exon3:c.A367T:p.T123S 13q12.3 C3L-01281 . . . . . . . . . 0.13 . T . . N N . . . 0.053 T T T 0.030 . 0.014 . T . T T T T -1.352 0.001 0.468 N N -2.018 0.008 -2.189 0.005 1.000 0.554 0.588 0.618 0.564 . 4.990 -9.980 -1.443 -1.620 -1.165 0.000 0.000 0.005 844 . . . . MTUS2 266 0 341 40 0.10498687664042 TRUE TRUE +ENSG00000092036.18 . BCM GRCh38.p13 chr14 22946637 22946637 + T T C Missense_Mutation SNP ENST00000206474.11 exon10 c.A980G p.Y327C exonic ENSG00000092036.18;ENSG00000259132.1 . nonsynonymous SNV ENSG00000092036.18:ENST00000206474.11:exon10:c.A980G:p.Y327C 14q11.2 C3L-01281 . . . . . . . . . 14.19 D D D D D D M . D 0.835 T T T 0.467 0.557 0.638 0.909 T T D D D D 4.204 28.700 0.998 D D 0.609 6.019 0.614 6.408 1.000 0.732 0.725 0.744 0.714 . 5.800 5.800 3.061 1.137 0.607 1.000 1.000 0.995 832 . . . . HAUS4 81 0 108 7 0.0608695652173913 TRUE NA +ENSG00000070367.16 . BCM GRCh38.p13 chr14 57208642 57208642 + A A C Nonsense_Mutation SNP ENST00000621441.5 exon18 c.T2094G p.Y698X exonic ENSG00000070367.16 . stopgain ENSG00000070367.16:ENST00000621441.5:exon18:c.T2094G:p.Y698X 14q22.3 C3L-01281 . . . . . . . . . 5.6 . . . . D D . . . 0.420 . . . . . . . . . D D . . 7.617 38 0.995 D N 0.433 4.556 0.292 3.669 0.881 0.707 0.725 0.725 0.714 . 5.490 3.180 1.972 0.320 -0.128 1.000 1.000 0.994 896 . . . . EXOC5 88 0 84 38 0.311475409836066 NA TRUE +ENSG00000072121.16 . BCM GRCh38.p13 chr14 67798163 67798163 + C C T Missense_Mutation SNP ENST00000347230.9 exon11 c.G2099A p.S700N exonic ENSG00000072121.16 . nonsynonymous SNV ENSG00000072121.16:ENST00000347230.9:exon11:c.G2099A:p.S700N 14q24.1 C3L-01281 . . . . . . . . . 0.19 T T B B N N . T N 0.074 T T T 0.071 0.127 0.203 0.151 T T T T T T 0.781 9.202 0.976 N N -0.311 1.586 -0.220 1.739 0.565 0.566 0.616 0.609 0.636 . 5.710 3.860 0.347 0.104 0.599 0.237 0.747 0.804 183 . . . ID=COSV61326853;OCCURENCE=3(liver) ZFYVE26 86 0 77 29 0.273584905660377 TRUE TRUE +ENSG00000100731.16 . BCM GRCh38.p13 chr14 70962312 70962312 + G G T Missense_Mutation SNP ENST00000304743.7 exon3 c.G449T p.G150V exonic ENSG00000100731.16 . nonsynonymous SNV ENSG00000100731.16:ENST00000304743.7:exon3:c.G449T:p.G150V 14q24.2 C3L-01281 . . . . . . . . . 14.20 D T D D D D M T D 0.808 T T D 0.223 0.251 0.219 0.400 T T D D D D 3.820 25.900 0.989 D D 0.642 6.374 0.617 6.437 1.000 0.737 0.725 0.733 0.714 . 5.290 5.290 4.613 1.176 0.616 1.000 0.897 0.391 768 . . . . PCNX1 156 0 255 19 0.0693430656934307 TRUE TRUE +ENSG00000011114.15 . BCM GRCh38.p13 chr14 93251506 93251506 + G G T Missense_Mutation SNP ENST00000334746.10 exon8 c.C1899A p.S633R exonic ENSG00000011114.15 . nonsynonymous SNV ENSG00000011114.15:ENST00000334746.10:exon8:c.C1899A:p.S633R 14q32.12 C3L-01281 . . . . . . . . . 3.19 T T P B D D N T N 0.514 T T T 0.133 0.194 0.159 0.193 T T T T T . 1.347 14.720 0.990 D N -0.562 1.058 -0.402 1.369 0.092 0.707 0.654 0.725 0.711 . 5.600 1.980 1.492 0.289 -0.272 1.000 1.000 0.996 796 . . . . BTBD7 71 1 86 42 0.328125 TRUE TRUE +ENSG00000137801.11 . BCM GRCh38.p13 chr15 39584363 39584363 + G G A Missense_Mutation SNP ENST00000260356.6 exon6 c.G967A p.V323I exonic ENSG00000137801.11 . nonsynonymous SNV ENSG00000137801.11:ENST00000260356.6:exon6:c.G967A:p.V323I 15q14 C3L-01281 . . . . . . . . . 1.20 T T B B N D N T N 0.098 T T T 0.099 0.737 0.255 0.351 T T T T T T 1.705 17.060 0.853 N N -0.433 1.313 -0.207 1.769 1.000 0.672 0.590 0.702 0.658 . 5.880 2.870 1.824 1.176 0.676 0.957 1.000 0.990 884 VWFC_domain . . . THBS1 182 0 163 45 0.216346153846154 TRUE TRUE +ENSG00000028528.15 . BCM GRCh38.p13 chr15 64126137 64126137 + T T G Missense_Mutation SNP ENST00000559844.6 exon6 c.T569G p.F190C exonic ENSG00000028528.15 . nonsynonymous SNV ENSG00000028528.15:ENST00000559844.6:exon6:c.T569G:p.F190C 15q22.31 C3L-01281 . . . . . . . . . 19.20 D D D D D D H T D 0.987 D D D 0.882 0.908 0.845 0.951 D D D D D D 4.315 29.700 0.995 D D 1.064 16.067 0.973 17.286 1.000 0.732 0.725 0.744 0.714 . 6.030 6.030 8.017 1.138 0.665 1.000 1.000 0.997 307 Phox_homologous_domain;Sorting_Nexin_1,_PX_domain . . . SNX1 202 0 165 13 0.0730337078651685 TRUE TRUE +ENSG00000169018.6 . BCM GRCh38.p13 chr15 68278472 68278472 + A A G Missense_Mutation SNP ENST00000306917.5 exon1 c.A55G p.T19A exonic ENSG00000169018.6 . nonsynonymous SNV ENSG00000169018.6:ENST00000306917.5:exon1:c.A55G:p.T19A 15q23 C3L-01281 . . . . . . . . . 7.20 T T B B D D L T N 0.460 T T D 0.103 0.361 0.333 1.791 D T T T D T 2.580 22.600 0.922 D D -0.347 1.501 -0.174 1.848 1.000 0.628 0.522 0.672 0.373 . 3.970 2.810 5.650 0.211 0.658 1.000 0.971 0.997 719 Ankyrin_repeat-containing_domain . . . FEM1B 214 0 168 89 0.346303501945525 TRUE TRUE +ENSG00000156222.12 . BCM GRCh38.p13 chr15 84943482 84943482 + G G A Missense_Mutation SNP ENST00000394573.6 exon16 c.G1619A p.G540E exonic ENSG00000156222.12 . nonsynonymous SNV ENSG00000156222.12:ENST00000394573.6:exon16:c.G1619A:p.G540E 15q25.3 C3L-01281 . . . . . . . . . 14.20 D D D D N D H T D 0.997 T T D 0.523 0.946 0.619 0.497 T T D D D D 4.322 29.800 0.997 D D 0.774 8.285 0.616 6.430 0.995 0.554 0.590 0.618 0.567 . 4.200 2.310 9.799 1.153 0.676 1.000 1.000 0.980 628 Concentrative_nucleoside_transporter_C-terminal_domain . . . SLC28A1 275 0 311 124 0.285057471264368 TRUE TRUE +ENSG00000242498.8 . BCM GRCh38.p13 chr15 89903945 89903945 + C C A Nonsense_Mutation SNP ENST00000357484.10 exon4 c.G340T p.E114X exonic ENSG00000242498.8;ENSG00000250021.7 . stopgain ENSG00000242498.8:ENST00000357484.10:exon4:c.G340T:p.E114X,ENSG00000250021.7:ENST00000398333.7:exon4:c.G340T:p.E114X 15q26.1 C3L-01281 . . . . . . . . . 4.6 . . . . U A . . . 0.349 . . . . . . . . . D D . . 6.573 36 0.994 D N 0.658 6.572 0.394 4.314 0.921 0.706 0.574 0.710 0.714 . 4.980 3.840 2.826 1.026 0.549 0.988 0.002 0.031 758 . . . . ARPIN 122 0 144 21 0.127272727272727 TRUE TRUE +ENSG00000085644.14 . BCM GRCh38.p13 chr16 3140977 3140977 + G G T Missense_Mutation SNP ENST00000396878.8 exon6 c.G1010T p.R337L exonic ENSG00000085644.14 . nonsynonymous SNV ENSG00000085644.14:ENST00000396878.8:exon6:c.G1010T:p.R337L 16p13.3 C3L-01281 . . . . . . . . . 9.20 T D D D D D L T D 0.472 T T T 0.269 0.637 0.350 1.624 T T T T D T 3.600 25.000 0.998 D D 0.147 3.076 0.133 2.873 0.983 0.651 0.709 0.723 0.636 . 4.810 4.810 0.731 1.172 0.672 0.008 1.000 0.993 744 Zinc_finger_C2H2-type . . . ZNF213 240 0 241 18 0.0694980694980695 TRUE TRUE +ENSG00000005844.18 . BCM GRCh38.p13 chr16 30496470 30496470 + A A T Missense_Mutation SNP ENST00000356798.11 exon15 c.A1736T p.Q579L exonic ENSG00000005844.18 . nonsynonymous SNV ENSG00000005844.18:ENST00000356798.11:exon15:c.A1736T:p.Q579L 16p11.2 C3L-01281 . . . . . . . . . 7.20 D D B B N D M T D 0.289 T T D 0.276 0.569 0.397 0.318 T T T T D T 0.588 7.396 0.942 N N -1.027 0.376 -1.182 0.298 0.964 0.672 0.702 0.547 0.542 . 5.940 -8.680 -0.959 -0.319 -0.106 0.000 0.958 0.984 281 . . . . ITGAL 185 0 179 35 0.163551401869159 TRUE TRUE +ENSG00000177200.17 . BCM GRCh38.p13 chr16 53286330 53286330 + G G A Missense_Mutation SNP ENST00000447540.5 exon26 c.G5176A p.D1726N exonic ENSG00000177200.17 . nonsynonymous SNV ENSG00000177200.17:ENST00000447540.5:exon26:c.G5176A:p.D1726N 16q12.2 C3L-01281 . . . . . . . . . 17.20 D D D D D D M D D 0.771 D D D 0.473 0.318 0.902 0.898 D T T T D D 3.950 26.600 0.999 D D 0.836 9.530 0.855 11.945 1.000 0.707 0.725 0.651 0.714 . 5.810 5.810 9.241 1.176 0.676 1.000 1.000 0.998 201 . . . . CHD9 74 0 74 28 0.274509803921569 TRUE TRUE +ENSG00000102996.5 . BCM GRCh38.p13 chr16 58042340 58042340 + G G A Missense_Mutation SNP ENST00000219271.4 exon7 c.G1274A p.R425H exonic ENSG00000102996.5 . nonsynonymous SNV ENSG00000102996.5:ENST00000219271.4:exon7:c.G1274A:p.R425H 16q21 C3L-01281 . . . . . . . . . 13.20 D D D P D D M T D 0.867 T T D 0.322 0.323 0.583 1.262 T T D T D D 4.233 29.000 0.999 D D 0.541 5.373 0.481 4.991 1.000 0.696 0.574 0.723 0.700 . 5.170 4.210 8.080 1.176 0.618 1.000 0.991 0.974 619 Hemopexin-like_domain . . . MMP15 101 0 96 34 0.261538461538462 TRUE TRUE +ENSG00000140932.10 . BCM GRCh38.p13 chr16 66580144 66580144 + C C G Missense_Mutation SNP ENST00000268595.3 exon2 c.C404G p.A135G exonic ENSG00000140932.10 . nonsynonymous SNV ENSG00000140932.10:ENST00000268595.3:exon2:c.C404G:p.A135G 16q21 C3L-01281 . . . . . . . . . 11.20 D D D D D D M T D 0.423 T T D 0.180 0.696 0.360 0.685 T T T T D T 3.067 23.600 0.996 D N 0.232 3.450 0.115 2.798 1.000 0.598 0.563 0.596 0.542 . 4.510 3.560 1.677 1.025 0.599 0.852 0.467 0.118 289 Marvel_domain . . . CMTM2 130 0 179 10 0.0529100529100529 TRUE NA +ENSG00000090863.12 . BCM GRCh38.p13 chr16 74503622 74503622 + A A C Missense_Mutation SNP ENST00000422840.7 exon4 c.T683G p.F228C exonic ENSG00000090863.12 . nonsynonymous SNV ENSG00000090863.12:ENST00000422840.7:exon4:c.T683G:p.F228C 16q23.1 C3L-01281 . . . . . . . . . 16.19 D D D D D D M . D 0.872 T T T 0.693 0.640 0.372 1.648 D D D D D D 4.132 28.000 0.993 D D 0.538 5.348 0.494 5.107 0.333 0.707 0.725 0.725 0.714 . 5.380 4.280 4.830 1.307 0.686 1.000 1.000 0.997 490 . . . . GLG1 276 1 263 100 0.275482093663912 TRUE TRUE +ENSG00000174231.17 . BCM GRCh38.p13 chr17 1683673 1683673 + C C A Missense_Mutation SNP ENST00000304992.11 exon3 c.G129T p.K43N exonic ENSG00000174231.17 . nonsynonymous SNV ENSG00000174231.17:ENST00000304992.11:exon3:c.G129T:p.K43N 17p13.3 C3L-01281 . . . . . . . . . 7.20 T T B B D D M T N 0.657 T T T 0.254 0.180 0.721 0.833 D D T T T D 2.137 20.400 0.998 D N -0.443 1.292 -0.310 1.544 1.000 0.628 0.672 0.686 0.658 . 5.410 0.681 0.549 1.026 0.549 0.997 1.000 0.998 634 PRO8NT_domain . . . PRPF8 297 1 307 122 0.284382284382284 TRUE TRUE +ENSG00000204889.10 . BCM GRCh38.p13 chr17 40982435 40982435 + G G T Missense_Mutation SNP ENST00000377755.8 exon3 c.C559A p.L187M exonic ENSG00000204889.10 . nonsynonymous SNV ENSG00000204889.10:ENST00000377755.8:exon3:c.C559A:p.L187M 17q21.2 C3L-01281 . . . . . . . . . 7.19 D T P P N N M D N 0.159 D D T 0.378 0.396 0.799 0.428 T T T T D . 3.504 24.700 0.996 D N 0.544 5.397 0.486 5.032 0.000 0.497 0.590 0.547 0.542 . 5.180 5.180 2.279 1.167 0.618 0.163 0.919 0.980 166 Intermediate_filament,_rod_domain . . . KRT40 58 0 63 4 0.0597014925373134 TRUE NA +ENSG00000108312.15 . BCM GRCh38.p13 chr17 44210436 44210436 + T T C Missense_Mutation SNP ENST00000436088.6 exon14 c.A1397G p.Q466R exonic ENSG00000108312.15 . nonsynonymous SNV ENSG00000108312.15:ENST00000436088.6:exon14:c.A1397G:p.Q466R 17q21.31 C3L-01281 . . . . . . . . . 13.20 D T P P D D N D N 0.716 D D D 0.549 0.339 0.839 2.008 T T D D D D 3.947 26.600 0.990 D D -0.070 2.273 0.109 2.771 1.000 0.731 0.522 0.750 0.756 . 4.610 4.610 7.473 1.138 0.665 1.000 0.916 0.479 429 High_mobility_group_box_domain . . . UBTF 134 0 68 18 0.209302325581395 TRUE TRUE +ENSG00000005884.18 . BCM GRCh38.p13 chr17 50079169 50079169 + T T A Missense_Mutation SNP ENST00000320031.13 exon20 c.T2494A p.Y832N exonic ENSG00000005884.18 . nonsynonymous SNV ENSG00000005884.18:ENST00000320031.13:exon20:c.T2494A:p.Y832N 17q21.33 C3L-01281 . . . . . . . . . 17.20 D D D D D D M T D 0.981 D D D 0.728 0.822 0.857 1.532 T T D D D D 4.411 31 0.992 D D 0.743 7.767 0.677 7.345 1.000 0.707 0.654 0.805 0.714 . 5.050 5.050 7.649 1.138 0.609 1.000 1.000 0.997 833 Integrin_alpha-2 . . . ITGA3 238 0 177 58 0.246808510638298 TRUE TRUE +ENSG00000141338.14 . BCM GRCh38.p13 chr17 68928063 68928063 + G G T Missense_Mutation SNP ENST00000586539.6 exon10 c.C1126A p.L376I exonic ENSG00000141338.14 . nonsynonymous SNV ENSG00000141338.14:ENST00000586539.6:exon10:c.C1126A:p.L376I 17q24.2 C3L-01281 . . . . . . . . . 3.20 T T B B N D L D N 0.229 T T D 0.192 0.459 0.449 0.092 T T T T T T 1.538 15.980 0.493 N N -0.562 1.057 -0.448 1.288 0.000 0.560 0.574 0.574 0.550 . 4.500 0.945 1.306 1.151 0.676 1.000 0.975 0.974 921 . . . . ABCA8 80 0 63 28 0.307692307692308 TRUE TRUE +ENSG00000152223.15 . BCM GRCh38.p13 chr18 45879118 45879118 + G G A Missense_Mutation SNP ENST00000282041.11 exon33 c.C5764T p.P1922S exonic ENSG00000152223.15 . nonsynonymous SNV ENSG00000152223.15:ENST00000282041.11:exon33:c.C5764T:p.P1922S 18q12.3 C3L-01281 . . . . . . . . rs780245388 6.19 T D P B . D L T D 0.331 T T T 0.184 0.689 0.296 0.637 T T T T D D 2.600 22.600 0.999 D N 0.287 3.712 0.371 4.159 1.000 0.707 0.709 0.659 0.714 . 5.250 5.250 4.526 1.176 0.676 1.000 1.000 1.000 981 . . . . EPG5 187 0 251 18 0.0669144981412639 TRUE NA +ENSG00000175387.16 . BCM GRCh38.p13 chr18 47845373 47845373 + A A T Missense_Mutation SNP ENST00000262160.11 exon10 c.T1247A p.M416K exonic ENSG00000175387.16 . nonsynonymous SNV ENSG00000175387.16:ENST00000262160.11:exon10:c.T1247A:p.M416K 18q21.1 C3L-01281 . . . . . . . . . 20.20 D D D D D D H D D 0.877 D D D 0.980 0.788 0.992 2.509 D D D D D D 4.020 27.100 0.988 D D 0.933 11.945 0.881 12.975 1.000 0.732 0.725 0.725 0.728 . 5.530 5.530 9.325 1.312 0.756 1.000 1.000 0.999 809 SMAD_domain,_Dwarfin-type . . . SMAD2 238 0 265 93 0.259776536312849 TRUE TRUE +ENSG00000175387.16 . BCM GRCh38.p13 chr18 47845376 47845376 + C C T Missense_Mutation SNP ENST00000262160.11 exon10 c.G1244A p.R415K exonic ENSG00000175387.16 . nonsynonymous SNV ENSG00000175387.16:ENST00000262160.11:exon10:c.G1244A:p.R415K 18q21.1 C3L-01281 . . . . . . . . . 20.20 D D D D D D M D D 0.810 D D D 0.931 0.907 0.950 2.310 D D D D D D 4.054 27.400 0.996 D D 0.889 10.779 0.859 12.120 1.000 0.732 0.725 0.725 0.728 . 5.530 5.530 7.905 1.026 0.599 1.000 1.000 0.998 809 SMAD_domain,_Dwarfin-type . . . SMAD2 245 0 263 94 0.263305322128852 TRUE TRUE +ENSG00000171105.14 . BCM GRCh38.p13 chr19 7120732 7120732 + C C A Missense_Mutation SNP ENST00000302850.10 exon20 c.G3547T p.D1183Y exonic ENSG00000171105.14 . nonsynonymous SNV ENSG00000171105.14:ENST00000302850.10:exon20:c.G3547T:p.D1183Y 19p13.2 C3L-01281 . . . . . . . . . 19.20 D D D D U D M D D 0.918 D D D 0.892 0.790 0.895 2.035 D D D D D D 4.243 29.100 0.995 D D 0.690 6.984 0.656 7.009 1.000 0.719 0.723 0.725 0.669 . 4.520 4.520 7.542 0.980 0.599 1.000 1.000 0.998 878 Tyrosine-protein_kinase,_receptor_class_II,_conserved_site;Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . INSR 266 0 331 86 0.206235011990408 TRUE TRUE +ENSG00000130304.17 . BCM GRCh38.p13 chr19 17489044 17489044 + G G A Missense_Mutation SNP ENST00000252595.12 exon6 c.G923A p.G308E exonic ENSG00000130304.17 . nonsynonymous SNV ENSG00000130304.17:ENST00000252595.12:exon6:c.G923A:p.G308E 19p13.11 C3L-01281 . . . . . . . . . 18.20 D D D D D D H T D 0.980 D D D 0.800 0.850 0.950 1.356 T D D D D D 4.438 31 0.998 D D 0.796 8.707 0.610 6.347 1.000 0.696 0.637 0.522 0.562 . 4.250 4.250 9.810 0.972 0.522 1.000 0.938 0.964 940 AMP-dependent_synthetase/ligase . . . SLC27A1 166 1 237 14 0.0557768924302789 TRUE TRUE +ENSG00000204611.7 . BCM GRCh38.p13 chr19 52116214 52116214 + G G A Missense_Mutation SNP ENST00000600228.6 exon4 c.C950T p.T317I exonic ENSG00000204611.7 . nonsynonymous SNV ENSG00000204611.7:ENST00000600228.6:exon4:c.C950T:p.T317I 19q13.41 C3L-01281 . . . . . . . . . 0.17 . T B B . N L T . 0.055 T T T 0.034 0.539 0.102 0.072 T T T T T T -0.986 0.008 0.993 N N -1.365 0.132 -1.454 0.126 0.002 0.707 0.546 0.725 0.636 . 1.010 -2.020 -7.026 -0.164 0.470 0.000 0.040 0.049 988 Zinc_finger_C2H2-type . . . ZNF616 260 0 255 98 0.277620396600567 TRUE TRUE +ENSG00000166913.13 . BCM GRCh38.p13 chr20 44906413 44906413 + - NA A Frame_Shift_Ins NA ENST00000353703.9 exon6 c.717dupA p.D240Rfs*31 exonic ENSG00000166913.13 . frameshift insertion ENSG00000166913.13:ENST00000353703.9:exon6:c.717dupA:p.D240Rfs*31 20q13.12 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YWHAB NA NA NA NA NA NA NA +ENSG00000154734.15 . BCM GRCh38.p13 chr21 26837824 26837824 + G G T Missense_Mutation SNP ENST00000284984.8 exon9 c.C2659A p.Q887K exonic ENSG00000154734.15 . nonsynonymous SNV ENSG00000154734.15:ENST00000284984.8:exon9:c.C2659A:p.Q887K 21q21.3 C3L-01281 . . . . . . . . . 3.19 T T B B . D L T N 0.107 T T T 0.159 0.332 0.583 0.326 T T T T T T 1.880 18.330 0.963 D D -0.300 1.613 -0.079 2.109 1.000 0.722 0.574 0.465 0.735 . 5.520 5.520 3.657 1.176 0.676 0.983 0.995 0.992 834 . . . . ADAMTS1 202 0 290 58 0.166666666666667 TRUE TRUE +ENSG00000184708.18 . BCM GRCh38.p13 chr22 31440082 31440082 + A A G Missense_Mutation SNP ENST00000330125.10 exon19 c.T2756C p.V919A exonic ENSG00000184708.18 . nonsynonymous SNV ENSG00000184708.18:ENST00000330125.10:exon19:c.T2756C:p.V919A 22q12.2 C3L-01281 . . . . . . . . . 1.19 T T B B N N N . N 0.108 T T T 0.067 0.216 0.103 0.206 T T T T T T 2.131 20.300 0.938 D N -0.270 1.688 -0.015 2.309 0.942 0.707 0.702 0.702 0.714 . 5.930 4.840 2.794 1.312 0.756 1.000 0.991 0.976 503 . . . . EIF4ENIF1 146 0 136 50 0.268817204301075 TRUE TRUE +ENSG00000047644.19 . BCM GRCh38.p13 chrX 10128648 10128648 + C C T Missense_Mutation SNP ENST00000380861.9 exon17 c.C2372T p.T791M exonic ENSG00000047644.19 . nonsynonymous SNV ENSG00000047644.19:ENST00000380861.9:exon17:c.C2372T:p.T791M Xp22.2 C3L-01281 . . . . . . . . rs990932833 7.19 D T D D N N M T N 0.561 T T T 0.244 0.294 0.189 0.983 T T T T D D 2.766 23.000 0.996 D . . . . . 1.000 . . . . . 4.950 4.950 3.937 0.035 0.597 0.997 0.017 0.017 738 . . . ID=COSV66503766;OCCURENCE=1(stomach) WWC3 160 1 80 32 0.285714285714286 TRUE TRUE +ENSG00000184895.8 . BCM GRCh38.p13 chrY 2787029 2787029 + G G A Missense_Mutation SNP ENST00000383070.2 exon1 c.C575T p.P192L exonic ENSG00000184895.8 . nonsynonymous SNV ENSG00000184895.8:ENST00000383070.2:exon1:c.C575T:p.P192L Yp11.2 C3L-01281 . . . . . . . . . 2.14 T T B B . N N D N 0.101 . . D . . 0.965 0.404 . T T T . T 0.495 6.448 0.794 N . . . . . 1.000 . . . . . 0.644 -1.290 1.247 0.301 0.196 1.000 0.253 0.426 . . . . . SRY 289 0 165 9 0.0517241379310345 TRUE NA +ENSG00000120519.15 . BCM GRCh38.p13 chr4 146294097 146294097 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000120519.15 ENST00000335472.12:exon8:c.556-2A>G . . 4q31.22 C3L-01281 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.559 34 0.995 D . 1.172 21.481 1.042 21.673 1.000 0.099 0.105 0.063 0.102 0.982 5.980 5.980 7.665 1.138 0.665 1.000 1.000 0.999 899 . . . . SLC10A7 48 0 40 23 0.365079365079365 TRUE TRUE +ENSG00000158683.8 . BCM GRCh38.p13 chr7 47775167 47775167 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000158683.8 ENST00000289672.6:exon57:c.8527-1G>T . . 7p12.3 C3L-01281 . . . . . . . . . 2.4 . . . . . N . . . . . . . . . . . . . D D . . 1.901 18.490 0.741 N . -0.133 2.071 -0.580 1.077 1.000 0.054 0.060 0.060 0.063 0.052 1.750 -0.280 -0.276 -0.156 -0.254 0.000 0.184 0.212 958 . . . . PKD1L1 125 0 140 8 0.0540540540540541 TRUE NA +ENSG00000120699.13 . BCM GRCh38.p13 chr13 37004514 37004514 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000120699.13 ENST00000389704.4:exon5:c.193-2A>G . . 13q13.3 C3L-01281 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.817 35 0.993 D . 1.109 17.909 0.950 16.093 1.000 0.257 0.272 0.232 0.196 0.982 5.470 5.470 7.865 1.312 0.756 1.000 0.994 0.935 792 . . . . EXOSC8 104 0 103 32 0.237037037037037 TRUE TRUE +ENSG00000163357.11 . BCM GRCh38.p13 chr1 155040495 155040495 + C C T Silent SNP ENST00000295542.6 exon6 c.C402T p.A134A exonic ENSG00000163357.11 . synonymous SNV ENSG00000163357.11:ENST00000295542.6:exon6:c.C402T:p.A134A 1q21.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCST1 86 0 93 12 0.114285714285714 TRUE TRUE +ENSG00000081248.11 . BCM GRCh38.p13 chr1 201073567 201073567 + G G T Silent SNP ENST00000362061.4 exon15 c.C2139A p.G713G exonic ENSG00000081248.11 . synonymous SNV ENSG00000081248.11:ENST00000362061.4:exon15:c.C2139A:p.G713G 1q32.1 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1S 391 0 514 50 0.0886524822695035 TRUE TRUE +ENSG00000124380.11 . BCM GRCh38.p13 chr2 69897390 69897390 + G G A Silent SNP ENST00000244227.8 exon4 c.G282A p.E94E exonic ENSG00000124380.11 . synonymous SNV ENSG00000124380.11:ENST00000244227.8:exon4:c.G282A:p.E94E 2p13.3 C3L-01281 . . . . . . . . rs770322323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNRNP27 117 0 171 22 0.113989637305699 TRUE NA +ENSG00000163251.4 . BCM GRCh38.p13 chr2 207768107 207768107 + C C T Silent SNP ENST00000295417.4 exon2 c.G633A p.R211R exonic ENSG00000163251.4 . synonymous SNV ENSG00000163251.4:ENST00000295417.4:exon2:c.G633A:p.R211R 2q33.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FZD5 222 0 279 16 0.0542372881355932 TRUE TRUE +ENSG00000151914.20 . BCM GRCh38.p13 chr6 56506488 56506488 + A A G Silent SNP ENST00000361203.7 exon72 c.T18459C p.L6153L exonic ENSG00000151914.20 . synonymous SNV ENSG00000151914.20:ENST00000361203.7:exon72:c.T18459C:p.L6153L 6p12.1 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DST 79 0 133 7 0.05 TRUE NA +ENSG00000186106.11 . BCM GRCh38.p13 chr8 100522642 100522642 + G G A Silent SNP ENST00000335659.7 exon5 c.C600T p.F200F exonic ENSG00000186106.11 . synonymous SNV ENSG00000186106.11:ENST00000335659.7:exon5:c.C600T:p.F200F 8q22.3 C3L-01281 4.946e-05 0 0.0004 0 0 1.499e-05 0 0 rs751985899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD46 273 0 368 28 0.0707070707070707 TRUE NA +ENSG00000253117.5 . BCM GRCh38.p13 chr8 132039098 132039098 + C C A Silent SNP ENST00000254627.4 exon7 c.G483T p.L161L exonic ENSG00000253117.5;ENSG00000258417.3 . synonymous SNV ENSG00000253117.5:ENST00000254627.4:exon7:c.G483T:p.L161L,ENSG00000258417.3:ENST00000262283.5:exon10:c.G1071T:p.L357L 8q24.22 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OC90 186 0 236 21 0.0817120622568093 TRUE TRUE +ENSG00000215183.5 . BCM GRCh38.p13 chr9 35753277 35753277 + G G A Silent SNP ENST00000436428.3 exon3 c.C243T p.S81S exonic ENSG00000215183.5 . synonymous SNV ENSG00000215183.5:ENST00000436428.3:exon3:c.C243T:p.S81S 9p13.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MSMP 61 0 74 4 0.0512820512820513 TRUE NA +ENSG00000126500.3 . BCM GRCh38.p13 chr11 64117227 64117227 + G G T Silent SNP ENST00000246841.3 exon2 c.G960T p.L320L exonic ENSG00000126500.3 . synonymous SNV ENSG00000126500.3:ENST00000246841.3:exon2:c.G960T:p.L320L 11q13.1 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP006333.1 169 1 146 75 0.339366515837104 TRUE TRUE +ENSG00000166025.18 . BCM GRCh38.p13 chr11 94768553 94768553 + G G T Silent SNP ENST00000433060.3 exon1 c.G42T p.A14A exonic ENSG00000166025.18 . synonymous SNV ENSG00000166025.18:ENST00000433060.3:exon1:c.G42T:p.A14A 11q21 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMOTL1 181 0 200 12 0.0566037735849057 TRUE TRUE +ENSG00000139323.14 . BCM GRCh38.p13 chr12 89491992 89491992 + A A G Silent SNP ENST00000313546.8 exon4 c.T396C p.Y132Y exonic ENSG00000139323.14 . synonymous SNV ENSG00000139323.14:ENST00000313546.8:exon4:c.T396C:p.Y132Y 12q21.33 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POC1B 61 0 68 20 0.227272727272727 TRUE TRUE +ENSG00000136108.15 . BCM GRCh38.p13 chr13 52462508 52462508 + A A C Silent SNP ENST00000378037.9 exon5 c.A1249C p.R417R exonic ENSG00000136108.15 . synonymous SNV ENSG00000136108.15:ENST00000378037.9:exon5:c.A1249C:p.R417R 13q14.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CKAP2 207 0 194 73 0.273408239700375 TRUE TRUE +ENSG00000100906.11 . BCM GRCh38.p13 chr14 35403268 35403268 + T T G Silent SNP ENST00000216797.10 exon3 c.A429C p.R143R exonic ENSG00000100906.11 . synonymous SNV ENSG00000100906.11:ENST00000216797.10:exon3:c.A429C:p.R143R 14q13.2 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFKBIA 228 1 284 25 0.0809061488673139 TRUE TRUE +ENSG00000197406.7 . BCM GRCh38.p13 chr14 101561591 101561591 + T T A Unknown SNP NA NA NA NA exonic ENSG00000197406.7 . unknown UNKNOWN 14q32.31 C3L-01281 . . . . . . . . . 5.17 D D . . U N L T N 0.267 T T . 0.114 . 0.219 2.145 D T T T D T 4.097 27.700 0.991 D N -0.153 2.012 -0.079 2.109 1.000 0.598 0.547 0.607 0.639 . 3.100 3.100 1.244 1.134 0.659 1.000 1.000 0.996 982 . . . . DIO3 144 0 112 42 0.272727272727273 TRUE TRUE +ENSG00000130182.8 . BCM GRCh38.p13 chr16 3089601 3089601 + G G A Silent SNP ENST00000252463.6 exon5 c.C1668T p.C556C exonic ENSG00000130182.8 . synonymous SNV ENSG00000130182.8:ENST00000252463.6:exon5:c.C1668T:p.C556C 16p13.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52967023;OCCURENCE=1(large_intestine) ZSCAN10 92 0 62 4 0.0606060606060606 TRUE TRUE +ENSG00000122390.19 . BCM GRCh38.p13 chr16 3476335 3476335 + C C T Silent SNP ENST00000407558.9 exon3 c.C108T p.I36I exonic ENSG00000122390.19 . synonymous SNV ENSG00000122390.19:ENST00000407558.9:exon3:c.C108T:p.I36I 16p13.3 C3L-01281 9.85e-05 0 0 0 0 1.603e-05 0 0.0007 rs563736586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAA60 83 0 95 12 0.11214953271028 TRUE NA +ENSG00000101680.15 . BCM GRCh38.p13 chr18 7050898 7050898 + A A G Silent SNP ENST00000389658.4 exon4 c.T384C p.N128N exonic ENSG00000101680.15 . synonymous SNV ENSG00000101680.15:ENST00000389658.4:exon4:c.T384C:p.N128N 18p11.31 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LAMA1 236 0 243 97 0.285294117647059 TRUE NA +ENSG00000187650.4 . BCM GRCh38.p13 chr19 5904998 5904998 + G G A Silent SNP ENST00000339485.4 exon1 c.G108A p.T36T exonic ENSG00000187650.4;ENSG00000267314.1 . synonymous SNV ENSG00000187650.4:ENST00000339485.4:exon1:c.G108A:p.T36T,ENSG00000267314.1:ENST00000588891.1:exon1:c.G108A:p.T36T 19p13.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VMAC 82 0 51 3 0.0555555555555556 NA TRUE +ENSG00000213889.10 . BCM GRCh38.p13 chr19 45502025 45502025 + G G A Silent SNP ENST00000451287.6 exon5 c.G1233A p.Q411Q exonic ENSG00000213889.10 . synonymous SNV ENSG00000213889.10:ENST00000451287.6:exon5:c.G1233A:p.Q411Q 19q13.32 C3L-01281 . . . . . . . . . 0.13 T T . . . N . . N 0.173 T T T 0.007 0.233 0.030 . . . T T T T -0.435 0.162 0.749 N N -0.816 0.631 -1.010 0.476 1.000 0.615 0.542 0.269 0.655 . 3.330 -1.670 -0.526 -0.304 -0.172 0.000 0.000 0.057 798 . . . . PPM1N 38 0 34 3 0.0810810810810811 TRUE NA +ENSG00000160180.15 . BCM GRCh38.p13 chr21 42313588 42313588 + G G A Silent SNP ENST00000518498.1 exon2 c.C168T p.C56C exonic ENSG00000160180.15 . synonymous SNV ENSG00000160180.15:ENST00000518498.1:exon2:c.C168T:p.C56C 21q22.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52294332;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) TFF3 135 0 95 28 0.227642276422764 TRUE TRUE +ENSG00000215193.13 . BCM GRCh38.p13 chr22 18083512 18083512 + C C A Silent SNP ENST00000399744.8 exon3 c.C447A p.A149A exonic ENSG00000215193.13 . synonymous SNV ENSG00000215193.13:ENST00000399744.8:exon3:c.C447A:p.A149A 22q11.21 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61604340;OCCURENCE=1(liver) PEX26 248 0 352 41 0.104325699745547 TRUE TRUE +ENSG00000272078.1 . BCM GRCh38.p13 chr1 10653231 10653231 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000272078.1 . . . 1p36.22 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL139423.1 24 0 19 5 0.208333333333333 TRUE NA +ENSG00000254035.1 . BCM GRCh38.p13 chr5 178987434 178987434 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000254035.1 . . . 5q35.3 C3L-01281 . . . . . . . . rs953735872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC104117.3 174 1 291 19 0.0612903225806452 TRUE NA +ENSG00000112514.17 . BCM GRCh38.p13 chr6 33418171 33418171 + T T C 5'Flank SNP NA NA NA NA upstream ENSG00000112514.17 dist=49 . . 6p21.32 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUTA 107 0 102 44 0.301369863013699 TRUE TRUE +ENSG00000070882.13 . BCM GRCh38.p13 chr7 24834474 24834474 + C C A Intron SNP NA NA NA NA intronic ENSG00000070882.13 . . . 7p15.3 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OSBPL3 51 0 50 4 0.0740740740740741 TRUE NA +ENSG00000137504.13 . BCM GRCh38.p13 chr11 85663568 85663568 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000137504.13 ENST00000527447.1:c.*243T>A . . 11q14.1 C3L-01281 . . . . . . . . . 4.11 . . . . . D . . D 0.570 T T T 0.160 0.242 0.369 . . . T T T T 2.336 21.800 0.797 D D 0.306 3.810 0.384 4.246 1.000 0.628 0.672 0.686 0.658 . 5.300 5.300 3.868 1.312 0.756 1.000 1.000 1.000 373 . . . . CREBZF 186 0 177 47 0.209821428571429 TRUE NA +ENSG00000110921.14 . BCM GRCh38.p13 chr12 109573521 109573521 + C C G 5'Flank SNP NA NA NA NA upstream ENSG00000110921.14;ENSG00000139428.12 dist=273 . . 12q24.11 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MVK 233 0 273 105 0.277777777777778 TRUE NA +ENSG00000151320.11 . BCM GRCh38.p13 chr14 32773982 32773982 + T T C Intron SNP NA NA NA NA intronic ENSG00000151320.11 . . . 14q12 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AKAP6 90 0 97 6 0.058252427184466 TRUE NA +ENSG00000131748.16 . BCM GRCh38.p13 chr17 39658091 39658091 + G G T Intron SNP NA NA NA NA intronic ENSG00000131748.16 . . . 17q12 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STARD3 38 0 50 4 0.0740740740740741 TRUE NA +ENSG00000228782.7 . BCM GRCh38.p13 chr17 47523063 47523063 + G G T IGR SNP NA NA NA NA intergenic ENSG00000228782.7;ENSG00000141279.16 dist=30571;dist=8045 . . 17q21.32 C3L-01281 . . . . . . . . . 5.16 D D P B . N . T N 0.190 T T D 0.049 0.489 0.103 . . . T T D T 2.371 22.000 0.986 D N 0.275 3.653 0.077 2.640 0.000 0.487 0.574 0.574 0.613 . 3.490 2.510 0.636 1.102 0.488 0.926 0.626 0.338 803 . . . . MRPL45P2 101 1 98 30 0.234375 NA TRUE +ENSG00000168234.13 . BCM GRCh38.p13 chr18 24019874 24019874 + C C T Intron SNP NA NA NA NA intronic ENSG00000168234.13 . . . 18q11.2 C3L-01281 . . . . . . . . rs141059000 1.8 . D . . . N . . . 0.198 . . T . . 0.537 . . . T T . T -0.072 0.948 0.551 N N . . . . 1.000 0.516 0.504 0.567 0.586 . 4.230 -2.640 -0.964 -0.329 -0.193 0.000 0.001 0.001 712 . . . . TTC39C 95 0 69 17 0.197674418604651 TRUE NA +ENSG00000207869.1 . BCM GRCh38.p13 chr19 53674244 53674244 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207869.1 . . . 19q13.42 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR498 112 0 137 23 0.14375 TRUE NA +ENSG00000124181.14 . BCM GRCh38.p13 chr20 41173542 41173542 + T T A Intron SNP NA NA NA NA intronic ENSG00000124181.14 . . . 20q12 C3L-01281 8.262e-06 0 0 0 0 1.502e-05 0 0 rs768883443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCG1 155 0 144 53 0.269035532994924 TRUE NA +ENSG00000142798.20 . BCM GRCh38.p13 chr1 21828916 21828917 + GA GA TT Unknown MNP ENST00000374695.8 exon88 c.12155_12156delinsAA p.L4052Q exonic ENSG00000142798.20 . nonframeshift substitution ENSG00000142798.20:ENST00000374695.8:exon88:c.12155_12156delinsAA:p.L4052Q 1p36.12 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HSPG2 211 5 326 5 0.0151057401812689 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52603692 52603693 + GC GC AA Unknown MNP ENST00000296302.11 exon17 c.2607_2608delinsTT p.Q869_V1689delinsH exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon17:c.2607_2608delinsTT:p.Q869_V1689delinsH 3p21.1 C3L-01281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 199 15 187 18 0.0878048780487805 TRUE TRUE +ENSG00000184163.3 . BCM GRCh38.p13 chr1 1243484 1243484 + G G - Frame_Shift_Del DEL ENST00000330388.2 exon5 c.600delC p.V201Cfs*122 exonic ENSG00000184163.3 . frameshift deletion ENSG00000184163.3:ENST00000330388.2:exon5:c.600delC:p.V201Cfs*122 1p36.33 C3L-01283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1QTNF12 152 0 35 3 0.0789473684210526 NA TRUE +ENSG00000116459.11 . BCM GRCh38.p13 chr1 111456735 111456735 + T T C Missense_Mutation SNP ENST00000369722.8 exon5 c.T493C p.Y165H exonic ENSG00000116459.11 . nonsynonymous SNV ENSG00000116459.11:ENST00000369722.8:exon5:c.T493C:p.Y165H 1p13.2 C3L-01283 . . . . . . . . . 8.20 T T D D D D M T N 0.319 T T T 0.063 0.512 0.200 0.844 T T T T D T 3.296 24.100 0.997 D D 0.441 4.611 0.439 4.650 1.000 0.707 0.725 0.725 0.714 . 5.220 5.220 2.049 1.124 0.665 0.986 0.999 0.937 701 . . . . ATP5PB 165 2 136 22 0.139240506329114 TRUE TRUE +ENSG00000115919.15 . BCM GRCh38.p13 chr2 143042106 143042106 + C C G Missense_Mutation SNP ENST00000264170.9 exon14 c.C1332G p.F444L exonic ENSG00000115919.15 . nonsynonymous SNV ENSG00000115919.15:ENST00000264170.9:exon14:c.C1332G:p.F444L 2q22.2 C3L-01283 . . . . . . . . . 12.20 D D D P D D H T D 0.631 T T D 0.363 0.689 0.532 0.276 T T D T D D 2.983 23.400 0.997 D N 0.166 3.154 0.068 2.607 0.003 0.732 0.744 0.574 0.621 . 5.090 0.672 0.318 -0.238 -0.182 1.000 0.998 0.995 936 . . . . KYNU 230 0 191 25 0.115740740740741 TRUE TRUE +ENSG00000135931.17 . BCM GRCh38.p13 chr2 231214911 231214911 + C C G Missense_Mutation SNP ENST00000611582.4 exon3 c.C258G p.I86M exonic ENSG00000135931.17 . nonsynonymous SNV ENSG00000135931.17:ENST00000611582.4:exon3:c.C258G:p.I86M 2q37.1 C3L-01283 . . . . . . . . . 2.20 D D P P N N L T N 0.111 T T T 0.069 0.310 0.396 0.259 T T T T T T 0.652 8.006 0.911 N N -0.615 0.961 -0.646 0.979 0.996 0.707 0.725 0.725 0.714 . 5.810 2.990 -0.167 -0.232 -0.176 0.469 0.004 0.067 946 . . . . ARMC9 303 0 195 19 0.088785046728972 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142061 10142061 + T T C Missense_Mutation SNP ENST00000256474.3 exon1 c.T214C p.S72P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T214C:p.S72P 3p25.3 C3L-01283 . . . . . . . . rs869025618 13.20 T T D P N N M D D 0.847 D D D 0.725 0.713 1.000 1.135 D D D D D T 3.234 23.900 0.998 D N 0.117 2.954 0.035 2.481 1.000 0.442 0.522 0.522 0.562 . 5.430 2.830 0.404 0.971 0.576 0.076 0.991 0.930 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56544742;OCCURENCE=4(kidney) VHL 457 0 46 4 0.08 TRUE TRUE +ENSG00000083857.14 . BCM GRCh38.p13 chr4 186620762 186620762 + T T G Missense_Mutation SNP ENST00000441802.7 exon10 c.A5824C p.T1942P exonic ENSG00000083857.14 . nonsynonymous SNV ENSG00000083857.14:ENST00000441802.7:exon10:c.A5824C:p.T1942P 4q35.2 C3L-01283 . . . . . . . . . 13.20 D D D D D D N T D 0.591 T T D 0.304 0.552 0.539 0.539 T T D T D D 3.103 23.600 0.994 D D 0.294 3.748 0.266 3.526 1.000 0.672 0.574 0.702 0.668 . 5.260 4.060 4.176 1.138 0.665 1.000 0.992 0.848 896 Cadherin-like . . . FAT1 382 1 290 16 0.0522875816993464 TRUE TRUE +ENSG00000164175.15 . BCM GRCh38.p13 chr5 33984400 33984400 + T T C Missense_Mutation SNP ENST00000296589.9 exon1 c.A184G p.S62G exonic ENSG00000164175.15 . nonsynonymous SNV ENSG00000164175.15:ENST00000296589.9:exon1:c.A184G:p.S62G 5p13.2 C3L-01283 . . . . . . . . . 18.19 D D D D D D M D D 0.755 D D D 0.707 0.455 0.943 0.261 T D D D D D 3.189 23.800 0.998 D . 0.409 4.397 0.473 4.924 1.000 0.428 0.547 0.547 0.613 . 5.620 5.620 6.178 1.124 0.654 1.000 1.000 0.994 821 Major_facilitator_superfamily_domain . . . SLC45A2 522 1 416 54 0.114893617021277 TRUE TRUE +ENSG00000240184.7 . BCM GRCh38.p13 chr5 141477987 141477987 + A A G Missense_Mutation SNP ENST00000308177.5 exon1 c.A1871G p.H624R exonic ENSG00000240184.7 . nonsynonymous SNV ENSG00000240184.7:ENST00000308177.5:exon1:c.A1871G:p.H624R 5q31.3 C3L-01283 . . . . . . . . . 2.18 T T B B . D N T D 0.170 T T T 0.048 0.566 0.117 0.701 . T T T T T 1.858 18.170 0.908 N N -0.680 0.846 -0.569 1.093 1.000 0.677 0.581 0.494 0.601 . 5.450 1.850 1.810 1.312 0.756 0.166 0.998 0.866 771 Cadherin-like . . . PCDHGC3 335 0 171 42 0.197183098591549 TRUE TRUE +ENSG00000136813.14 . BCM GRCh38.p13 chr9 111370758 111370758 + A A G Missense_Mutation SNP ENST00000259335.8 exon45 c.T5279C p.L1760P exonic ENSG00000136813.14 . nonsynonymous SNV ENSG00000136813.14:ENST00000259335.8:exon45:c.T5279C:p.L1760P 9q31.3 C3L-01283 . . . . . . . . . 15.17 D D . . D D . T D 0.983 D D D 0.856 0.805 0.877 0.869 D T D D D D 3.806 25.900 0.999 D D 0.776 8.335 0.716 8.057 1.000 0.707 0.725 0.725 0.714 . 5.900 5.900 8.571 1.312 0.756 1.000 0.773 0.312 881 . . . . ECPAS 232 0 181 19 0.095 TRUE TRUE +ENSG00000119431.9 . BCM GRCh38.p13 chr9 113373970 113373970 + G G C Missense_Mutation SNP ENST00000238379.9 exon2 c.C385G p.L129V exonic ENSG00000119431.9 . nonsynonymous SNV ENSG00000119431.9:ENST00000238379.9:exon2:c.C385G:p.L129V 9q32 C3L-01283 . . . . . . . . . 3.20 T T B B D D L T N 0.151 T T T 0.111 0.568 0.266 0.457 T T T T T T 1.343 14.690 0.903 D N -0.321 1.563 -0.286 1.594 1.000 0.646 0.696 0.571 0.636 . 5.760 2.830 1.531 1.176 0.676 1.000 0.054 0.007 855 . . . . HDHD3 166 0 155 18 0.104046242774566 TRUE TRUE +ENSG00000165698.16 . BCM GRCh38.p13 chr9 132887408 132887408 + G G C Missense_Mutation SNP ENST00000356311.10 exon3 c.G184C p.D62H exonic ENSG00000165698.16 . nonsynonymous SNV ENSG00000165698.16:ENST00000356311.10:exon3:c.G184C:p.D62H 9q34.13 C3L-01283 . . . . . . . . . 5.18 T D B B N D . T D 0.440 T T T 0.167 0.453 0.486 0.111 . T T T D T 2.450 22.300 0.981 D N -0.382 1.423 -0.312 1.540 0.997 0.615 0.610 0.602 0.655 . 5.310 2.330 2.599 0.169 0.676 0.997 0.745 0.792 791 . . . . SPACA9 385 0 250 35 0.12280701754386 TRUE TRUE +ENSG00000107736.21 . BCM GRCh38.p13 chr10 71800667 71800667 + G G A Missense_Mutation SNP ENST00000224721.12 exon53 c.G7394A p.R2465Q exonic ENSG00000107736.21 . nonsynonymous SNV ENSG00000107736.21:ENST00000224721.12:exon53:c.G7394A:p.R2465Q 10q22.1 C3L-01283 0.0002 0 0.0010 0 0.0002 0.0002 0 0 rs199903227 15.20 D D D D D D M T D 0.964 T T D 0.553 . 0.787 0.680 T D T D D D 5.016 33 1.000 D D 0.986 13.482 0.924 14.805 1.000 0.428 0.492 0.547 0.613 . 5.430 5.430 9.310 1.152 0.595 1.000 1.000 0.998 812 Cadherin-like . . ID=COSV56467793;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) CDH23 253 0 219 61 0.217857142857143 TRUE TRUE +ENSG00000148600.15 . BCM GRCh38.p13 chr10 84213223 84213223 + G G C Missense_Mutation SNP ENST00000623527.4 exon16 c.G1915C p.D639H exonic ENSG00000148600.15 . nonsynonymous SNV ENSG00000148600.15:ENST00000623527.4:exon16:c.G1915C:p.D639H 10q23.1 C3L-01283 . . . . . . . . . 13.20 D D D D D D M T D 0.587 T T T 0.325 0.341 0.738 . T D T T D D 4.218 28.800 0.996 D D 0.853 9.907 0.876 12.778 1.000 0.675 0.610 0.693 0.613 . 5.930 5.930 9.453 1.176 0.676 1.000 0.960 0.989 936 Cadherin-like . . . CDHR1 230 3 146 9 0.0580645161290323 NA TRUE +ENSG00000171862.11 . BCM GRCh38.p13 chr10 87961098 87961098 + - NA A Nonsense_Mutation SNP ENST00000371953.8 exon8 c.1007dupA p.Y336* exonic ENSG00000171862.11 . stopgain ENSG00000171862.11:ENST00000371953.8:exon8:c.1007dupA:p.Y336* 10q23.31 C3L-01283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTEN NA NA NA NA NA NA NA +ENSG00000118137.9 . BCM GRCh38.p13 chr11 116835835 116835837 + CTC CTC - In_Frame_Del DEL ENST00000236850.4 exon4 c.775_777del p.E259del exonic ENSG00000118137.9 . nonframeshift deletion ENSG00000118137.9:ENST00000236850.4:exon4:c.775_777del:p.E259del 11q23.3 C3L-01283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APOA1 242 0 87 9 0.09375 TRUE NA +ENSG00000111087.10 . BCM GRCh38.p13 chr12 57469686 57469686 + T T A Missense_Mutation SNP ENST00000228682.7 exon11 c.T1564A p.L522M exonic ENSG00000111087.10 . nonsynonymous SNV ENSG00000111087.10:ENST00000228682.7:exon11:c.T1564A:p.L522M 12q13.3 C3L-01283 . . . . . . . . . 7.20 D D D D N D L T N 0.366 T T T 0.121 0.280 0.441 0.690 T D T T D T 2.096 19.990 0.992 N N -0.272 1.685 -0.442 1.299 1.000 0.707 0.380 0.725 0.530 . 4.620 -3.080 -0.129 -0.155 -0.120 0.065 0.932 0.957 303 . . . . GLI1 187 0 148 21 0.124260355029586 TRUE TRUE +ENSG00000100884.9 . BCM GRCh38.p13 chr14 24074569 24074569 + T T A Nonsense_Mutation SNP ENST00000397016.6 exon7 c.T537A p.Y179X exonic ENSG00000100884.9 . stopgain ENSG00000100884.9:ENST00000397016.6:exon7:c.T537A:p.Y179X 14q11.2 C3L-01283 . . . . . . . . . 5.6 . . . . D A . . . 0.498 . . . . . . . . . D D . . 6.350 35 0.995 D N 0.404 4.371 0.224 3.306 0.999 0.497 0.547 0.578 0.542 . 5.190 1.510 0.081 1.138 0.609 0.947 1.000 0.996 878 C2_domain;Copine,_C2B_domain . . . CPNE6 218 0 177 22 0.110552763819095 TRUE TRUE +ENSG00000137877.10 . BCM GRCh38.p13 chr15 41867047 41867047 + C C T Missense_Mutation SNP ENST00000320955.8 exon36 c.G6392A p.R2131Q exonic ENSG00000137877.10 . nonsynonymous SNV ENSG00000137877.10:ENST00000320955.8:exon36:c.G6392A:p.R2131Q 15q15.1 C3L-01283 0 0 0 0 0 0 0 0 rs372449171 5.20 T D P P N N M T D 0.143 T T D 0.142 . 0.649 . T T T T D T 1.288 14.300 0.983 N N -0.247 1.749 -0.452 1.282 1.000 0.563 0.590 0.578 0.636 . 4.850 2.910 0.023 1.021 0.596 0.000 0.007 0.004 195 . . . . SPTBN5 233 0 46 3 0.0612244897959184 TRUE NA +ENSG00000177971.8 . BCM GRCh38.p13 chr15 75639711 75639711 + C C T Missense_Mutation SNP ENST00000314852.2 exon2 c.G458A p.S153N exonic ENSG00000177971.8 . nonsynonymous SNV ENSG00000177971.8:ENST00000314852.2:exon2:c.G458A:p.S153N 15q24.2 C3L-01283 . . . . . . . . . 4.20 T T B B D D N T N 0.130 T T T 0.120 0.325 0.289 0.466 T T T T T D 2.082 19.880 0.930 D N -0.390 1.406 -0.084 2.093 1.000 0.442 0.522 0.522 0.562 . 6.170 5.210 2.065 1.026 0.597 1.000 1.000 1.000 292 RNA-binding_S4_domain . . . IMP3 353 0 203 24 0.105726872246696 TRUE TRUE +ENSG00000125107.18 . BCM GRCh38.p13 chr16 58558656 58558656 + T T C Missense_Mutation SNP ENST00000317147.10 exon18 c.A2149G p.M717V exonic ENSG00000125107.18 . nonsynonymous SNV ENSG00000125107.18:ENST00000317147.10:exon18:c.A2149G:p.M717V 16q21 C3L-01283 . . . . . . . . . 6.20 T T B B D D N T N 0.468 T T T 0.155 0.307 0.546 0.615 T T T T D D 2.360 21.900 0.922 D D -0.036 2.386 0.184 3.108 1.000 0.707 0.725 0.702 0.714 . 5.560 5.560 7.935 1.138 0.665 1.000 1.000 0.999 247 . . . . CNOT1 128 0 86 15 0.148514851485149 TRUE TRUE +ENSG00000239697.11 . BCM GRCh38.p13 chr17 7557108 7557108 + G G T Missense_Mutation SNP ENST00000293825.11 exon7 c.G508T p.D170Y exonic ENSG00000239697.11 . nonsynonymous SNV ENSG00000239697.11:ENST00000293825.11:exon7:c.G508T:p.D170Y 17p13.1 C3L-01283 . . . . . . . . . 15.18 D D D D . D L D N 0.523 D D D 0.632 0.507 0.043 . . D D D D T 4.240 29.000 0.994 D D 0.371 4.171 0.315 3.807 1.000 0.742 0.710 0.775 0.613 . 3.970 3.000 4.127 1.176 0.676 1.000 1.000 0.984 395 Tumour_necrosis_factor_domain . . . TNFSF12 128 0 40 8 0.166666666666667 TRUE TRUE +ENSG00000087095.13 . BCM GRCh38.p13 chr17 28043051 28043051 + G G T Missense_Mutation SNP ENST00000407008.8 exon1 c.G178T p.A60S exonic ENSG00000087095.13 . nonsynonymous SNV ENSG00000087095.13:ENST00000407008.8:exon1:c.G178T:p.A60S 17q11.2 C3L-01283 . . . . . . . . . 8.20 D T B B D D N T N 0.588 T T D 0.180 0.181 0.764 0.965 T T T T D D 3.113 23.700 0.991 D D 0.092 2.855 0.312 3.787 1.000 0.543 0.628 0.686 0.375 . 5.440 5.440 8.491 1.176 0.676 1.000 0.996 0.994 104 . . . . NLK 193 0 77 5 0.0609756097560976 NA TRUE +ENSG00000212658.1 . BCM GRCh38.p13 chr17 41302851 41302851 + T T A Translation_Start_Site SNP ENST00000391353.1 exon1 c.A1T p.M1? exonic ENSG00000212658.1 . startloss ENSG00000212658.1:ENST00000391353.1:exon1:c.A1T:p.M1? 17q21.2 C3L-01283 . . . . . . . . . 7.12 D D . . . . . . N 0.532 T T D 0.224 0.997 0.067 . . T D D D . 1.961 18.960 0.903 D N -0.038 2.378 -0.044 2.214 0.062 0.487 0.590 0.547 0.564 . 5.560 3.350 1.764 1.138 0.665 0.981 0.944 0.495 111 . . . . KRTAP29-1 69 0 50 4 0.0740740740740741 TRUE TRUE +ENSG00000012048.23 . BCM GRCh38.p13 chr17 43092160 43092160 + A A T Missense_Mutation SNP ENST00000357654.9 exon10 c.T3371A p.F1124Y exonic ENSG00000012048.23 . nonsynonymous SNV ENSG00000012048.23:ENST00000357654.9:exon10:c.T3371A:p.F1124Y 17q21.31 C3L-01283 . . . . . . . . . 10.20 D D P P N N M D N 0.498 T D D 0.507 0.679 0.789 0.379 T D D T D D 2.431 22.200 0.988 N N -0.075 2.255 -0.295 1.574 0.999 0.732 0.725 0.651 0.728 . 5.180 2.890 1.838 1.312 0.756 0.003 0.702 0.131 516 . . . . BRCA1 247 0 205 19 0.0848214285714286 TRUE TRUE +ENSG00000121068.14 . BCM GRCh38.p13 chr17 61403062 61403062 + C C A Missense_Mutation SNP ENST00000240328.4 exon3 c.C665A p.T222N exonic ENSG00000121068.14 . nonsynonymous SNV ENSG00000121068.14:ENST00000240328.4:exon3:c.C665A:p.T222N 17q23.2 C3L-01283 . . . . . . . . . 19.20 D D D D D D M D D 0.921 D D D 0.715 0.601 0.684 . D D D D D T 4.614 32 0.994 D D 0.881 10.564 0.846 11.623 1.000 0.598 0.596 0.607 0.639 . 5.780 5.780 6.150 1.026 0.599 1.000 0.998 0.978 239 . . . . TBX2 136 0 44 4 0.0833333333333333 NA TRUE +ENSG00000053747.16 . BCM GRCh38.p13 chr18 23689891 23689891 + G G A Missense_Mutation SNP ENST00000313654.13 exon1 c.G208A p.G70R exonic ENSG00000053747.16 . nonsynonymous SNV ENSG00000053747.16:ENST00000313654.13:exon1:c.G208A:p.G70R 18q11.2 C3L-01283 . . . . . . . . . 3.15 T . . . . N . T N 0.129 T T D 0.205 0.589 0.686 2.032 T T T T T T 2.610 22.700 0.941 D D -0.520 1.137 -0.476 1.242 1.000 0.658 0.492 0.607 0.604 . 4.280 3.380 5.410 0.160 0.516 1.000 0.182 0.031 544 Laminin,_N-terminal . . . LAMA3 132 0 10 3 0.230769230769231 TRUE NA +ENSG00000153896.19 . BCM GRCh38.p13 chr19 34769458 34769458 + A A G Missense_Mutation SNP ENST00000329285.13 exon2 c.T116C p.L39P exonic ENSG00000153896.19 . nonsynonymous SNV ENSG00000153896.19:ENST00000329285.13:exon2:c.T116C:p.L39P 19q13.11 C3L-01283 . . . . . . . . . 9.19 D D D D . D M T D 0.821 T T T 0.277 0.787 0.688 0.280 T T T T D T 3.459 24.600 0.998 D N 0.503 5.057 0.336 3.931 0.003 0.638 0.670 0.659 0.636 . 2.920 2.920 0.673 1.118 0.754 0.881 0.931 0.047 328 Krueppel-associated_box . . . ZNF599 259 0 187 14 0.0696517412935323 TRUE TRUE +ENSG00000176024.18 . BCM GRCh38.p13 chr19 51944184 51944184 + G G A Missense_Mutation SNP ENST00000293471.11 exon6 c.G301A p.E101K exonic ENSG00000176024.18 . nonsynonymous SNV ENSG00000176024.18:ENST00000293471.11:exon6:c.G301A:p.E101K 19q13.41 C3L-01283 . . . . . . . . . 0.20 T T B B N N L T N 0.158 T T T 0.031 0.381 0.255 0.098 T T T T T T 1.593 16.330 0.568 N N -0.945 0.465 -0.991 0.500 0.000 0.707 0.546 0.725 0.492 . 3.250 0.855 0.477 0.060 0.590 0.388 0.039 0.778 976 . . . . ZNF613 36 0 40 3 0.0697674418604651 TRUE TRUE +ENSG00000101438.4 . BCM GRCh38.p13 chr20 38724978 38724978 + A A G Missense_Mutation SNP ENST00000217420.2 exon1 c.A254G p.Y85C exonic ENSG00000101438.4 . nonsynonymous SNV ENSG00000101438.4:ENST00000217420.2:exon1:c.A254G:p.Y85C 20q11.23 C3L-01283 . . . . . . . . . 10.20 D T D P D D L T N 0.695 T T D 0.386 0.310 0.483 . D T T T D D 3.841 26.000 0.997 D D 0.411 4.412 0.413 4.452 1.000 0.598 0.596 0.607 0.639 . 4.970 4.970 8.990 1.307 0.751 1.000 1.000 0.998 940 . . . . SLC32A1 82 0 18 4 0.181818181818182 TRUE TRUE +ENSG00000189037.8 . BCM GRCh38.p13 chrX 44844601 44844601 + G G A Missense_Mutation SNP ENST00000339042.6 exon1 c.G469A p.E157K exonic ENSG00000189037.8 . nonsynonymous SNV ENSG00000189037.8:ENST00000339042.6:exon1:c.G469A:p.E157K Xp11.3 C3L-01283 3.427e-05 0 0 0 0 6.267e-05 0 0 rs766627568 18.19 D D D D D D M D D 0.769 D D D 0.838 . 0.815 1.624 T D D D D D 3.742 25.600 0.999 D . . . . . 1.000 . . . . . 3.950 3.950 9.893 1.176 0.676 1.000 0.471 0.827 654 Dual_specificity_phosphatase,_catalytic_domain;Dual_specificity_protein_phosphatase_domain . . ID=COSV59133782;OCCURENCE=2(large_intestine),2(skin),1(upper_aerodigestive_tract),1(endometrium) DUSP21 136 0 96 15 0.135135135135135 NA TRUE +ENSG00000183035.13 . BCM GRCh38.p13 chrX 83873614 83873614 + C C A Missense_Mutation SNP ENST00000329312.5 exon4 c.C906A p.D302E exonic ENSG00000183035.13 . nonsynonymous SNV ENSG00000183035.13:ENST00000329312.5:exon4:c.C906A:p.D302E Xq21.1 C3L-01283 . . . . . . . . . 2.18 D T B B . N L T N 0.080 T T D 0.043 0.129 0.082 0.002 T T T T T T 0.611 7.615 0.919 N . . . . . 0.000 . . . . . 4.920 0.720 -0.164 1.026 0.599 0.008 0.959 0.808 620 . . . . CYLC1 24 0 32 3 0.0857142857142857 TRUE NA +ENSG00000168890.14 . BCM GRCh38.p13 chr2 85599523 85599523 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000168890.14 ENST00000334462.10:exon7:c.574+2T>C . . 2p11.2 C3L-01283 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.866 33 0.993 D . 1.062 15.999 0.883 13.038 1.000 0.130 0.153 0.122 0.090 0.980 5.070 5.070 8.890 1.298 0.740 1.000 1.000 0.857 589 . . . . TMEM150A 83 0 59 5 0.078125 TRUE TRUE +ENSG00000139668.9 . BCM GRCh38.p13 chr13 51758301 51758301 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000139668.9 ENST00000298125.7:exon11:c.1173+1G>A . . 13q14.3 C3L-01283 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.706 34 0.996 D . 1.225 26.196 1.077 24.630 1.000 0.295 0.304 0.343 0.118 0.985 5.670 5.670 9.602 1.176 0.676 1.000 0.960 0.856 893 . . . . WDFY2 107 0 72 13 0.152941176470588 TRUE TRUE +ENSG00000160856.21 . BCM GRCh38.p13 chr1 157696212 157696212 + G G A Silent SNP ENST00000368184.8 exon7 c.C960T p.F320F exonic ENSG00000160856.21 . synonymous SNV ENSG00000160856.21:ENST00000368184.8:exon7:c.C960T:p.F320F 1q23.1 C3L-01283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FCRL3 387 0 360 44 0.108910891089109 TRUE TRUE +ENSG00000212124.2 . BCM GRCh38.p13 chr12 11022518 11022518 + A A T Silent SNP ENST00000390673.2 exon1 c.T54A p.V18V exonic ENSG00000212124.2 . synonymous SNV ENSG00000212124.2:ENST00000390673.2:exon1:c.T54A:p.V18V 12p13.2 C3L-01283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAS2R19 134 0 118 13 0.099236641221374 NA TRUE +ENSG00000183579.16 . BCM GRCh38.p13 chr22 29050728 29050728 + C C T Silent SNP ENST00000544604.7 exon8 c.C2547T p.T849T exonic ENSG00000183579.16 . synonymous SNV ENSG00000183579.16:ENST00000544604.7:exon8:c.C2547T:p.T849T 22q12.1 C3L-01283 . . . . . . . . rs1013263254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNRF3 202 1 53 3 0.0535714285714286 TRUE NA +ENSG00000140320.12 . BCM GRCh38.p13 chr15 40458737 40458738 + GC GC AG Unknown MNP ENST00000416165.6 exon2 c.273_274delinsAG p.L92V exonic ENSG00000140320.12 . nonframeshift substitution ENSG00000140320.12:ENST00000416165.6:exon2:c.273_274delinsAG:p.L92V 15q15.1 C3L-01283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAHD1 168 0 82 7 0.0786516853932584 TRUE TRUE +ENSG00000162571.14 . BCM GRCh38.p13 chr1 1180311 1180311 + C C A Missense_Mutation SNP ENST00000379289.6 exon6 c.C477A p.F159L exonic ENSG00000162571.14 . nonsynonymous SNV ENSG00000162571.14:ENST00000379289.6:exon6:c.C477A:p.F159L 1p36.33 C3L-01286 . . . . . . . . . 9.20 D D D D N D M T D 0.417 T T T 0.264 0.295 0.482 0.210 T T T T D T 3.282 24.100 0.998 D N 0.282 3.687 0.188 3.124 1.000 0.497 0.590 0.578 0.563 . 3.940 3.940 2.608 1.021 0.596 1.000 0.978 0.304 789 . . . . TTLL10 87 0 70 21 0.230769230769231 TRUE TRUE +ENSG00000142687.18 . BCM GRCh38.p13 chr1 35506885 35506885 + T T A Missense_Mutation SNP ENST00000325722.8 exon3 c.A393T p.L131F exonic ENSG00000142687.18 . nonsynonymous SNV ENSG00000142687.18:ENST00000325722.8:exon3:c.A393T:p.L131F 1p34.3 C3L-01286 2.475e-05 0 0 0.0001 0 3.004e-05 0 0 rs41310436 0.20 T T B B N N N T N 0.140 T T T 0.097 0.331 0.282 0.295 T T T T T T -1.279 0.002 0.639 N N -1.939 0.012 -2.003 0.013 1.000 0.731 0.750 0.744 0.635 . 5.780 -11.600 -1.332 -0.859 -0.951 0.043 0.962 0.868 378 . . . ID=COSV57844099;OCCURENCE=1(oesophagus),1(lung) KIAA0319L 238 0 122 62 0.33695652173913 TRUE TRUE +ENSG00000197747.9 . BCM GRCh38.p13 chr1 151986180 151986180 + G G T Missense_Mutation SNP ENST00000368811.8 exon2 c.C51A p.H17Q exonic ENSG00000197747.9 . nonsynonymous SNV ENSG00000197747.9:ENST00000368811.8:exon2:c.C51A:p.H17Q 1q21.3 C3L-01286 . . . . . . . . . 6.19 D T P P D D . T D 0.750 T T T 0.238 0.616 0.186 1.352 T T T T D T 2.888 23.200 0.932 D N 0.098 2.879 0.129 2.856 1.000 0.722 0.660 0.725 0.735 . 6.160 3.000 2.197 0.227 -0.119 1.000 0.993 0.995 581 S100/CaBP-9k-type,_calcium_binding,_subdomain . . . S100A10 135 0 143 10 0.065359477124183 TRUE TRUE +ENSG00000135835.12 . BCM GRCh38.p13 chr1 180936014 180936014 + T T A Missense_Mutation SNP ENST00000367588.9 exon5 c.T2105A p.F702Y exonic ENSG00000135835.12 . nonsynonymous SNV ENSG00000135835.12:ENST00000367588.9:exon5:c.T2105A:p.F702Y 1q25.3 C3L-01286 . . . . . . . . . 0.20 T T P B N N L T N 0.211 T T T 0.092 0.218 0.014 0.683 T T T T T T 0.496 6.457 0.860 N N -0.856 0.577 -1.009 0.477 1.000 0.616 0.618 0.535 0.605 . 4.740 -0.597 -0.208 -0.158 -0.125 0.000 0.001 0.030 865 . . . . KIAA1614 289 0 171 227 0.57035175879397 TRUE TRUE +ENSG00000170498.9 . BCM GRCh38.p13 chr1 204192840 204192840 + G G A Missense_Mutation SNP ENST00000367194.5 exon2 c.C37T p.L13F exonic ENSG00000170498.9 . nonsynonymous SNV ENSG00000170498.9:ENST00000367194.5:exon2:c.C37T:p.L13F 1q32.1 C3L-01286 . . . . . . . . . 12.20 T D D D D D L D D 0.131 D D D 0.522 0.619 0.649 0.454 T T T T D T 2.519 22.500 0.996 D N 0.684 6.905 0.675 7.308 1.000 0.554 0.563 0.393 0.568 . 5.820 5.820 1.182 1.106 0.676 0.997 0.970 0.990 614 . . . . KISS1 498 0 260 363 0.582664526484751 TRUE TRUE +ENSG00000143512.13 . BCM GRCh38.p13 chr1 222543943 222543943 + G G C Missense_Mutation SNP ENST00000343410.7 exon2 c.C568G p.L190V exonic ENSG00000143512.13 . nonsynonymous SNV ENSG00000143512.13:ENST00000343410.7:exon2:c.C568G:p.L190V 1q41 C3L-01286 . . . . . . . . . 14.20 D T D P D D M T D 0.597 D D D 0.496 0.485 0.501 0.711 T T D D D T 3.324 24.200 0.997 D D 0.749 7.868 0.674 7.287 1.000 0.526 0.574 0.616 0.584 . 5.470 5.470 9.439 1.075 0.618 1.000 0.838 0.492 894 . . . . HHIPL2 281 0 186 266 0.588495575221239 TRUE TRUE +ENSG00000203663.4 . BCM GRCh38.p13 chr1 248038944 248038944 + G G A Missense_Mutation SNP ENST00000641771.1 exon3 c.G677A p.R226H exonic ENSG00000203663.4 . nonsynonymous SNV ENSG00000203663.4:ENST00000641771.1:exon3:c.G677A:p.R226H 1q44 C3L-01286 5.766e-05 0 0.0003 0.0005 0 0 0 0 rs753145578 0.20 T T B B N N L T N 0.060 T T T 0.024 0.477 0.055 0.016 T T T T T T -0.537 0.099 0.582 N N -1.369 0.130 -1.521 0.100 0.000 0.487 0.574 0.574 0.564 . 1.900 -3.730 -3.350 -1.706 -1.095 0.000 0.000 0.000 912 GPCR,_rhodopsin-like,_7TM . . . OR2L2 200 0 229 63 0.215753424657534 NA TRUE +ENSG00000084710.14 . BCM GRCh38.p13 chr2 25137432 25137432 + C C - Frame_Shift_Del DEL ENST00000403714.8 exon15 c.1652delC p.L552Sfs*49 exonic ENSG00000084710.14 . frameshift deletion ENSG00000084710.14:ENST00000403714.8:exon15:c.1652delC:p.L552Sfs*49 2p23.3 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFR3B 212 0 177 51 0.223684210526316 TRUE TRUE +ENSG00000171094.18 . BCM GRCh38.p13 chr2 29220710 29220710 + C C T Missense_Mutation SNP ENST00000389048.8 exon23 c.G3641A p.R1214H exonic ENSG00000171094.18 . nonsynonymous SNV ENSG00000171094.18:ENST00000389048.8:exon23:c.G3641A:p.R1214H 2p23.2 C3L-01286 1.653e-05 0 0 0 0 3.008e-05 0 0 rs750194005 8.20 T T P B U D L D D 0.367 T D D 0.488 0.365 0.797 0.250 T T T T D T 2.695 22.800 0.998 D D 0.172 3.183 0.330 3.895 1.000 0.487 0.574 0.316 0.542 . 5.590 5.590 3.374 1.016 0.585 1.000 1.000 0.954 751 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV66583891;OCCURENCE=2(breast),1(large_intestine),1(upper_aerodigestive_tract) ALK 215 0 203 59 0.225190839694656 TRUE TRUE +ENSG00000049323.16 . BCM GRCh38.p13 chr2 33257460 33257460 + G G A Missense_Mutation SNP ENST00000404816.7 exon12 c.G2344A p.E782K exonic ENSG00000049323.16 . nonsynonymous SNV ENSG00000049323.16:ENST00000404816.7:exon12:c.G2344A:p.E782K 2p22.3 C3L-01286 . . . . . . . . . 11.19 D T D P . D L T N 0.878 T D D 0.460 0.390 0.748 0.518 T T D D D D 4.279 29.400 0.999 D D 0.607 5.996 0.697 7.697 1.000 0.707 0.574 0.659 0.714 . 5.910 5.910 8.779 1.176 0.676 1.000 1.000 1.000 848 . . . . LTBP1 202 0 175 57 0.245689655172414 TRUE TRUE +ENSG00000162929.14 . BCM GRCh38.p13 chr2 61092583 61092583 + A A T Missense_Mutation SNP ENST00000402291.6 exon11 c.A1208T p.Y403F exonic ENSG00000162929.14 . nonsynonymous SNV ENSG00000162929.14:ENST00000402291.6:exon11:c.A1208T:p.Y403F 2p15 C3L-01286 . . . . . . . . . 1.19 T T B B N N N . N 0.253 T T T 0.082 0.452 0.314 0.069 T T T T T T 0.606 7.568 0.496 D N -1.118 0.291 -1.020 0.465 0.000 0.651 0.588 0.659 0.684 . 5.380 -5.220 2.035 0.320 -0.054 0.940 0.997 0.983 381 . . . . KIAA1841 67 0 33 32 0.492307692307692 TRUE TRUE +ENSG00000153201.16 . BCM GRCh38.p13 chr2 108766305 108766305 + C C A Missense_Mutation SNP ENST00000283195.11 exon20 c.C5766A p.F1922L exonic ENSG00000153201.16 . nonsynonymous SNV ENSG00000153201.16:ENST00000283195.11:exon20:c.C5766A:p.F1922L 2q13 C3L-01286 . . . . . . . . . 0.19 T T B B . N L T N 0.057 T T T 0.076 0.206 0.219 0.404 T T T T T T 0.110 2.178 0.691 N N -0.910 0.508 -0.881 0.646 0.983 0.707 0.725 0.725 0.714 . 5.750 0.175 0.442 0.125 0.594 0.002 0.254 0.533 842 . . . . RANBP2 725 3 611 193 0.240049751243781 NA TRUE +ENSG00000176601.13 . BCM GRCh38.p13 chr2 134981206 134981206 + C C A Nonsense_Mutation SNP ENST00000392915.6 exon12 c.G3535T p.E1179X exonic ENSG00000176601.13 . stopgain ENSG00000176601.13:ENST00000392915.6:exon12:c.G3535T:p.E1179X 2q21.3 C3L-01286 . . . . . . . . . 5.6 . . . . D D . . . 0.425 . . . . . . . . . D D . . 7.398 38 0.997 D N 0.854 9.928 0.698 7.707 0.005 0.554 0.588 0.574 0.530 . 5.750 4.830 1.302 0.117 -0.196 0.686 1.000 0.994 904 Protein_kinase_domain . . . MAP3K19 208 0 196 47 0.193415637860082 TRUE TRUE +ENSG00000184611.12 . BCM GRCh38.p13 chr2 162435332 162435332 + C C G Missense_Mutation SNP ENST00000332142.10 exon8 c.G1820C p.G607A exonic ENSG00000184611.12 . nonsynonymous SNV ENSG00000184611.12:ENST00000332142.10:exon8:c.G1820C:p.G607A 2q24.2 C3L-01286 . . . . . . . . . 20.20 D D D D D D M D D 0.788 D D D 0.925 0.707 0.949 2.429 D D D D D D 3.684 25.300 0.999 D D 0.964 12.815 0.933 15.252 1.000 0.554 0.574 0.618 0.564 . 5.900 5.900 7.905 1.026 0.599 1.000 1.000 0.999 513 Ion_transport_domain . . . KCNH7 199 0 110 73 0.398907103825137 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178730749 178730749 + C C A Missense_Mutation SNP ENST00000591111.5 exon59 c.G16833T p.M5611I exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon59:c.G16833T:p.M5611I 2q31.2 C3L-01286 . . . . . . . . . 4.16 T . P B . D . T N 0.420 T T D 0.210 0.436 0.430 0.232 T . T T T T 2.392 22.100 0.908 D D 0.266 3.610 0.412 4.443 1.000 0.554 0.588 0.547 0.564 . 5.750 5.750 4.061 1.026 0.599 1.000 1.000 1.000 343 Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 59 0 60 12 0.166666666666667 TRUE NA +ENSG00000130294.16 . BCM GRCh38.p13 chr2 240788088 240788088 + C C T Missense_Mutation SNP ENST00000649096.1 exon4 c.G326A p.G109D exonic ENSG00000130294.16 . nonsynonymous SNV ENSG00000130294.16:ENST00000649096.1:exon4:c.G326A:p.G109D 2q37.3 C3L-01286 . . . . . . . . . 19.20 D D D D U D H D D 0.977 D D D 0.957 0.950 0.978 2.704 D D D D D D 3.860 26.100 0.999 D D 1.023 14.650 0.894 13.502 1.000 0.672 0.547 0.702 0.613 . 4.790 4.790 7.706 1.026 0.599 1.000 1.000 0.998 . Kinesin_motor_domain . . . KIF1A 177 0 151 42 0.217616580310881 TRUE TRUE +ENSG00000060971.18 . BCM GRCh38.p13 chr3 38127843 38127843 + T T C Missense_Mutation SNP ENST00000333167.13 exon7 c.A569G p.E190G exonic ENSG00000060971.18 . nonsynonymous SNV ENSG00000060971.18:ENST00000333167.13:exon7:c.A569G:p.E190G 3p22.2 C3L-01286 . . . . . . . . . 13.20 T T B B D D M D D 0.797 T T D 0.676 0.520 0.955 0.577 T D D D D D 2.739 22.900 0.999 D D 0.292 3.740 0.296 3.691 1.000 0.707 0.702 0.725 0.711 . 5.580 4.430 6.137 1.138 0.665 1.000 0.998 0.998 553 Thiolase,_N-terminal . . . ACAA1 224 0 61 89 0.593333333333333 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47122895 47122895 + C C A Nonsense_Mutation SNP ENST00000409792.3 exon3 c.G1741T p.E581X exonic ENSG00000181555.20 . stopgain ENSG00000181555.20:ENST00000409792.3:exon3:c.G1741T:p.E581X 3p21.31 C3L-01286 . . . . . . . . . 5.6 . . . . D A . . . 0.775 . . . . . . . . . D D . . 6.040 35 0.996 D N 1.129 18.890 0.981 17.740 1.000 0.563 0.654 0.670 0.636 . 5.300 5.300 6.364 0.966 0.530 1.000 1.000 0.995 13 . . . ID=COSV57434480;OCCURENCE=1(central_nervous_system),1(prostate) SETD2 79 0 28 15 0.348837209302326 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52550454 52550465 + TGGACTCCGCAC TGGACTCCGCAC - In_Frame_Del DEL ENST00000296302.11 exon29 c.4853_4864del p.S1618_S1621del exonic ENSG00000163939.18 . nonframeshift deletion ENSG00000163939.18:ENST00000296302.11:exon29:c.4853_4864del:p.S1618_S1621del 3p21.1 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 27 0 9 10 0.526315789473684 TRUE TRUE +ENSG00000109758.9 . BCM GRCh38.p13 chr4 3449399 3449399 + C C T Missense_Mutation SNP ENST00000382774.8 exon14 c.C1948T p.R650W exonic ENSG00000109758.9 . nonsynonymous SNV ENSG00000109758.9:ENST00000382774.8:exon14:c.C1948T:p.R650W 4p16.3 C3L-01286 1.804e-05 0 0 0 0 3.178e-05 0 0 rs577434025 9.20 D D D D N N M D N 0.314 T D D 0.291 0.431 0.883 0.284 T T T T D T 2.915 23.200 0.996 N N -0.459 1.259 -0.616 1.022 0.174 0.554 0.588 0.578 0.568 . 3.910 2.010 0.632 1.004 -0.203 0.315 0.009 0.015 873 . . . ID=COSV66977323;OCCURENCE=1(endometrium) HGFAC 39 0 20 12 0.375 TRUE TRUE +ENSG00000084093.18 . BCM GRCh38.p13 chr4 56930681 56930681 + T T C Missense_Mutation SNP ENST00000309042.12 exon4 c.T1823C p.M608T exonic ENSG00000084093.18 . nonsynonymous SNV ENSG00000084093.18:ENST00000309042.12:exon4:c.T1823C:p.M608T 4q12 C3L-01286 . . . . . . . . . 0.20 T T B B N N N T N 0.011 T T T 0.023 0.289 0.110 0.019 T T T T T T -1.156 0.003 0.190 N N -1.943 0.012 -2.089 0.009 1.000 0.672 0.702 0.698 0.636 . 4.760 -9.520 -4.605 0.841 0.519 0.000 0.013 0.018 846 . . . . REST 115 0 74 41 0.356521739130435 TRUE NA +ENSG00000152583.12 . BCM GRCh38.p13 chr4 87494400 87494400 + G G T Missense_Mutation SNP ENST00000418378.5 exon5 c.C400A p.L134I exonic ENSG00000152583.12 . nonsynonymous SNV ENSG00000152583.12:ENST00000418378.5:exon5:c.C400A:p.L134I 4q22.1 C3L-01286 . . . . . . . . . 1.20 D T B B N N L T N 0.236 T T T 0.026 0.118 0.030 0.106 T T T T T T 1.281 14.250 0.977 N N -0.642 0.914 -0.635 0.994 0.885 0.554 0.588 0.547 0.613 . 5.100 4.250 0.507 0.224 0.676 0.001 0.027 0.087 523 . . . . SPARCL1 163 0 70 47 0.401709401709402 TRUE TRUE +ENSG00000164362.21 . BCM GRCh38.p13 chr5 1294104 1294104 + C C T Missense_Mutation SNP ENST00000310581.10 exon2 c.G782A p.R261K exonic ENSG00000164362.21 . nonsynonymous SNV ENSG00000164362.21:ENST00000310581.10:exon2:c.G782A:p.R261K 5p15.33 C3L-01286 . . . . . . . . . 3.20 T T B B N N N D N 0.104 T D D 0.163 0.280 0.493 1.089 T T T T T T -0.060 1.003 0.637 N N -1.211 0.219 -1.241 0.251 1.000 0.726 0.542 0.594 0.563 . 2.950 0.878 0.171 -0.859 -0.931 0.002 0.000 0.000 970 . . . . TERT 297 0 233 160 0.407124681933842 TRUE TRUE +ENSG00000082074.18 . BCM GRCh38.p13 chr5 39202788 39202788 + C C T Missense_Mutation SNP ENST00000351578.11 exon2 c.G173A p.G58E exonic ENSG00000082074.18 . nonsynonymous SNV ENSG00000082074.18:ENST00000351578.11:exon2:c.G173A:p.G58E 5p13.1 C3L-01286 . . . . . . . . . 6.19 D T D P N N . T D 0.436 T T D 0.166 0.158 0.479 . T T T T D D 2.735 22.900 0.997 N N 0.156 3.114 0.136 2.888 1.000 0.554 0.588 0.574 0.564 . 6.170 4.330 0.241 1.026 0.599 0.636 0.995 0.967 734 . . . . FYB1 213 0 305 22 0.0672782874617737 TRUE TRUE +ENSG00000113638.14 . BCM GRCh38.p13 chr5 40716411 40716411 + G G A Nonsense_Mutation SNP ENST00000337702.5 exon5 c.C523T p.Q175X exonic ENSG00000113638.14 . stopgain ENSG00000113638.14:ENST00000337702.5:exon5:c.C523T:p.Q175X 5p13.1 C3L-01286 . . . . . . . . rs374271035 4.6 . . . . N D . . . 0.057 . . . . . . . . . D D . . 6.959 36 0.997 D N 0.777 8.346 0.651 6.919 1.000 0.744 0.654 0.630 0.692 . 5.800 4.930 4.243 1.146 0.676 1.000 0.988 0.976 329 . . . . TTC33 172 0 265 63 0.192073170731707 TRUE NA +ENSG00000134352.20 . BCM GRCh38.p13 chr5 55941360 55941360 + C C T Missense_Mutation SNP ENST00000381298.7 exon17 c.G2479A p.D827N exonic ENSG00000134352.20 . nonsynonymous SNV ENSG00000134352.20:ENST00000381298.7:exon17:c.G2479A:p.D827N 5q11.2 C3L-01286 . . . . . . . . . 6.20 D D B B N D M T N 0.333 T T T 0.050 0.154 0.697 0.296 T T T T D T 3.012 23.400 0.998 D N -0.103 2.165 0.019 2.427 1.000 0.707 0.698 0.659 0.714 . 5.730 4.860 1.872 1.026 0.594 0.931 0.992 0.998 834 . . . . IL6ST 278 0 243 152 0.384810126582278 NA TRUE +ENSG00000112983.17 . BCM GRCh38.p13 chr5 138168068 138168068 + C C A Missense_Mutation SNP ENST00000254900.9 exon9 c.G653T p.S218I exonic ENSG00000112983.17 . nonsynonymous SNV ENSG00000112983.17:ENST00000254900.9:exon9:c.G653T:p.S218I 5q31.2 C3L-01286 . . . . . . . . . 7.20 D D P B N D M T D 0.544 T T T 0.083 0.234 0.332 0.238 T T T T T D 2.075 19.830 0.945 D N -0.314 1.581 -0.236 1.702 0.052 0.707 0.725 0.725 0.714 . 5.400 1.480 0.677 0.088 -0.266 0.998 1.000 0.991 172 . . . . BRD8 96 0 80 55 0.407407407407407 TRUE TRUE +ENSG00000145920.15 . BCM GRCh38.p13 chr5 175878965 175878965 + C C A Missense_Mutation SNP ENST00000393745.8 exon3 c.C89A p.A30E exonic ENSG00000145920.15 . nonsynonymous SNV ENSG00000145920.15:ENST00000393745.8:exon3:c.C89A:p.A30E 5q35.2 C3L-01286 . . . . . . . . . 14.19 D D D D U D L . D 0.742 T T D 0.281 0.391 0.328 1.457 D T D D D D 3.203 23.900 0.984 D D 0.302 3.790 0.222 3.291 1.000 0.443 0.574 0.666 0.542 . 4.320 4.320 7.281 1.026 0.597 1.000 0.694 0.892 667 . . . . CPLX2 220 0 245 44 0.152249134948097 TRUE NA +ENSG00000079691.18 . BCM GRCh38.p13 chr6 25600371 25600371 + G G T Missense_Mutation SNP ENST00000329474.7 exon33 c.G3177T p.K1059N exonic ENSG00000079691.18 . nonsynonymous SNV ENSG00000079691.18:ENST00000329474.7:exon33:c.G3177T:p.K1059N 6p22.2 C3L-01286 . . . . . . . . . 8.19 D T D D D D . T N 0.410 T T T 0.100 0.357 0.134 0.668 T T T T D D 3.754 25.600 0.998 D N 0.583 5.755 0.567 5.837 1.000 0.706 0.588 0.710 0.621 . 5.200 5.200 2.578 1.176 0.676 1.000 1.000 0.999 618 CARMIL,_C-terminal_domain . . . CARMIL1 140 1 80 39 0.327731092436975 TRUE TRUE +ENSG00000118434.9 . BCM GRCh38.p13 chr6 88064219 88064219 + G G C Missense_Mutation SNP ENST00000237201.2 exon6 c.G731C p.W244S exonic ENSG00000118434.9 . nonsynonymous SNV ENSG00000118434.9:ENST00000237201.2:exon6:c.G731C:p.W244S 6q15 C3L-01286 . . . . . . . . . 13.20 D D D D D D M T D 0.761 T T T 0.313 0.502 0.490 0.605 T T D D D T 5.513 34 0.987 D D 0.720 7.412 0.689 7.552 0.748 0.487 0.574 0.574 0.530 . 5.680 5.680 5.418 1.176 0.618 1.000 0.992 0.583 405 . . . . SPACA1 80 0 37 25 0.403225806451613 TRUE TRUE +ENSG00000112238.12 . BCM GRCh38.p13 chr6 99613722 99613722 + C C A Missense_Mutation SNP ENST00000369215.5 exon4 c.C1087A p.H363N exonic ENSG00000112238.12 . nonsynonymous SNV ENSG00000112238.12:ENST00000369215.5:exon4:c.C1087A:p.H363N 6q16.2 C3L-01286 0.0020 0.1024 0 0 . 0 0 0.0002 rs9494888 5.18 D T P B . N M T N 0.222 T T . 0.067 . 0.409 . D T T T T T 2.009 19.320 0.970 D D -0.009 2.480 0.055 2.559 1.000 0.437 0.607 0.607 0.555 . 3.330 3.330 2.119 0.858 0.502 0.036 0.997 0.907 811 . PNISR Thyroid . PRDM13 146 0 91 6 0.0618556701030928 TRUE NA +ENSG00000182095.14 . BCM GRCh38.p13 chr7 5371298 5371298 + A A G Missense_Mutation SNP ENST00000430969.5 exon11 c.T3296C p.L1099P exonic ENSG00000182095.14 . nonsynonymous SNV ENSG00000182095.14:ENST00000430969.5:exon11:c.T3296C:p.L1099P 7p22.1 C3L-01286 . . . . . . . . . 10.19 D D D D . D L T D 0.796 T T D 0.376 0.214 0.110 0.358 T T T T D T 4.006 27.000 0.942 D D 0.621 6.146 0.573 5.906 0.933 0.707 0.725 0.717 0.636 . 4.980 4.980 5.604 1.306 0.751 1.000 1.000 0.857 917 . . . . TNRC18 24 0 21 11 0.34375 TRUE NA +ENSG00000105875.14 . BCM GRCh38.p13 chr7 135208943 135208943 + T T A Missense_Mutation SNP ENST00000354475.5 exon3 c.A359T p.Q120L exonic ENSG00000105875.14 . nonsynonymous SNV ENSG00000105875.14:ENST00000354475.5:exon3:c.A359T:p.Q120L 7q33 C3L-01286 . . . . . . . . . 16.20 T D D D D D L D D 0.649 D D D 0.672 0.320 0.682 0.404 T T D D D D 3.525 24.800 0.847 D D 0.249 3.528 0.214 3.251 1.000 0.543 0.686 0.693 0.655 . 5.770 4.600 7.951 1.138 0.663 1.000 0.996 0.962 581 . . . . WDR91 151 0 111 57 0.339285714285714 TRUE TRUE +ENSG00000147488.11 . BCM GRCh38.p13 chr8 52171792 52171792 + G G A Missense_Mutation SNP ENST00000276480.11 exon10 c.C1069T p.H357Y exonic ENSG00000147488.11 . nonsynonymous SNV ENSG00000147488.11:ENST00000276480.11:exon10:c.C1069T:p.H357Y 8q11.23 C3L-01286 4.138e-05 0 0.0004 0 0 0 0 0 rs141556653 5.20 T T B B D D M T N 0.270 T T T 0.054 . 0.082 0.106 T T T T T T 1.817 17.850 0.968 D D -0.411 1.358 -0.233 1.709 0.208 0.497 0.590 0.547 0.613 . 5.720 3.900 1.673 0.195 -0.153 1.000 0.999 0.992 929 . . . ID=COSV52491344;OCCURENCE=1(liver),1(large_intestine),1(haematopoietic_and_lymphoid_tissue) ST18 106 1 73 28 0.277227722772277 TRUE TRUE +ENSG00000164683.18 . BCM GRCh38.p13 chr8 79765456 79765456 + T T C Missense_Mutation SNP ENST00000354724.8 exon5 c.A647G p.Q216R exonic ENSG00000164683.18 . nonsynonymous SNV ENSG00000164683.18:ENST00000354724.8:exon5:c.A647G:p.Q216R 8q21.13 C3L-01286 . . . . . . . . . 2.20 T T B B N D L T N 0.387 T T T 0.055 0.194 0.352 0.541 T T T T T T 2.190 20.800 0.696 D N -0.403 1.376 -0.258 1.652 1.000 0.564 0.484 0.504 0.373 . 5.830 2.010 2.677 1.138 0.665 1.000 0.998 0.927 917 . . . . HEY1 194 0 199 66 0.249056603773585 TRUE TRUE +ENSG00000132549.18 . BCM GRCh38.p13 chr8 99135024 99135024 + A A G Missense_Mutation SNP ENST00000358544.6 exon10 c.A1312G p.M438V exonic ENSG00000132549.18 . nonsynonymous SNV ENSG00000132549.18:ENST00000358544.6:exon10:c.A1312G:p.M438V 8q22.2 C3L-01286 . . . . . . . . . 7.20 T T B B D D L T N 0.378 T T D 0.174 0.316 0.632 0.145 T T T T D D 2.392 22.100 0.959 D D 0.080 2.809 0.262 3.502 1.000 0.615 0.714 0.618 0.655 . 5.070 5.070 8.608 1.312 0.691 1.000 1.000 0.993 793 . . . . VPS13B 355 1 274 88 0.243093922651934 TRUE TRUE +ENSG00000099139.14 . BCM GRCh38.p13 chr9 76179634 76179634 + G G A Missense_Mutation SNP ENST00000545128.5 exon15 c.G1939A p.G647R exonic ENSG00000099139.14 . nonsynonymous SNV ENSG00000099139.14:ENST00000545128.5:exon15:c.G1939A:p.G647R 9q21.13 C3L-01286 . . . . . . . . . 18.20 D D D D D D M T D 0.882 D D D 0.766 0.778 0.885 2.194 D T D D D D 4.385 31 0.999 D D 1.038 15.150 0.968 17.023 1.000 0.706 0.574 0.710 0.568 . 5.610 5.610 9.475 1.176 0.676 1.000 0.998 0.996 903 Growth_factor_receptor_domain_4 . . ID=COSV65084371;OCCURENCE=3(large_intestine) PCSK5 215 0 135 43 0.241573033707865 TRUE TRUE +ENSG00000130957.5 . BCM GRCh38.p13 chr9 94587321 94587321 + C C T Missense_Mutation SNP ENST00000375337.4 exon2 c.G319A p.A107T exonic ENSG00000130957.5 . nonsynonymous SNV ENSG00000130957.5:ENST00000375337.4:exon2:c.G319A:p.A107T 9q22.32 C3L-01286 4.122e-05 0 0 0.0006 0 0 0 0 rs201943366 0.20 T T B B N N N T N 0.057 T T T 0.097 . 0.620 0.115 T T T T T T -0.079 0.917 0.984 N N -1.018 0.385 -1.056 0.423 1.000 0.487 0.574 0.547 0.632 . 5.820 -2.060 -0.221 -1.577 -0.837 0.000 0.005 0.012 840 Fructose-1-6-bisphosphatase_class_I,_N-terminal . . . FBP2 101 0 55 36 0.395604395604396 TRUE NA +ENSG00000166171.13 . BCM GRCh38.p13 chr10 101600837 101600849 + AACTCATCAAGGA AACTCATCAAGGA - Frame_Shift_Del DEL ENST00000370151.9 exon3 c.245_257del p.L83Afs*14 exonic ENSG00000166171.13 . frameshift deletion ENSG00000166171.13:ENST00000370151.9:exon3:c.245_257del:p.L83Afs*14 10q24.32 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPCD 343 0 166 27 0.139896373056995 TRUE TRUE +ENSG00000181001.2 . BCM GRCh38.p13 chr11 5788138 5788138 + C C T Missense_Mutation SNP ENST00000641645.1 exon2 c.G679A p.V227I exonic ENSG00000181001.2 . nonsynonymous SNV ENSG00000181001.2:ENST00000641645.1:exon2:c.G679A:p.V227I 11p15.4 C3L-01286 . . . . . . . . . 6.20 D D P P N D M T N 0.061 T T T 0.173 0.603 0.482 0.072 T T T T D D 1.782 17.600 0.996 N N 0.192 3.269 0.062 2.586 0.000 0.487 0.574 0.574 0.564 . 4.710 4.710 2.115 1.002 0.568 0.487 0.002 0.001 728 GPCR,_rhodopsin-like,_7TM . . ID=COSV57693368;OCCURENCE=2(lung) OR52N1 391 0 361 98 0.213507625272331 TRUE TRUE +ENSG00000172457.6 . BCM GRCh38.p13 chr11 56743144 56743144 + A A G Missense_Mutation SNP ENST00000302957.4 exon1 c.T668C p.L223P exonic ENSG00000172457.6 . nonsynonymous SNV ENSG00000172457.6:ENST00000302957.4:exon1:c.T668C:p.L223P 11q12.1 C3L-01286 . . . . . . . . . 9.20 D D D D N D M T D 0.565 T T T 0.264 0.799 0.497 0.016 T T T T D T 3.544 24.900 0.999 D N 0.362 4.117 0.311 3.780 0.115 0.487 0.574 0.574 0.564 . 5.070 5.070 3.010 1.301 0.741 0.039 1.000 0.997 436 GPCR,_rhodopsin-like,_7TM . . . OR9G4 235 0 193 52 0.212244897959184 TRUE TRUE +ENSG00000166889.14 . BCM GRCh38.p13 chr11 59649565 59649565 + G G C Missense_Mutation SNP ENST00000300146.10 exon14 c.C1630G p.L544V exonic ENSG00000166889.14 . nonsynonymous SNV ENSG00000166889.14:ENST00000300146.10:exon14:c.C1630G:p.L544V 11q12.1 C3L-01286 . . . . . . . . . 2.20 T T B B N D L T N 0.202 T T T 0.069 0.421 0.198 0.434 T T T T T T 1.940 18.800 0.959 D N -0.090 2.206 0.099 2.732 0.976 0.707 0.725 0.725 0.714 . 5.710 5.710 3.413 1.176 0.676 1.000 1.000 0.993 754 mRNA_decay_factor_PAT1_domain . . . PATL1 168 0 148 53 0.263681592039801 TRUE TRUE +ENSG00000185670.9 . BCM GRCh38.p13 chr11 62752641 62752641 + A A T Missense_Mutation SNP ENST00000673933.1 exon2 c.T1174A p.S392T exonic ENSG00000185670.9 . nonsynonymous SNV ENSG00000185670.9:ENST00000673933.1:exon2:c.T1174A:p.S392T 11q12.3 C3L-01286 . . . . . . . . . 0.20 T T B B N N L T N 0.064 T T T 0.008 0.252 0.099 0.305 T T T T T T 0.211 3.255 0.360 N N -1.294 0.168 -1.294 0.213 1.000 0.672 0.577 0.702 0.492 . 3.980 -1.580 -0.097 -0.330 -0.133 0.000 0.867 0.927 431 . . . . ZBTB3 133 0 127 38 0.23030303030303 TRUE TRUE +ENSG00000197136.4 . BCM GRCh38.p13 chr11 65635022 65635022 + C C T Missense_Mutation SNP ENST00000355703.3 exon30 c.C4855T p.R1619C exonic ENSG00000197136.4 . nonsynonymous SNV ENSG00000197136.4:ENST00000355703.3:exon30:c.C4855T:p.R1619C 11q13.1 C3L-01286 8.405e-06 0 8.74e-05 0 0 0 0 0 rs758077741 17.20 D D D D D D M T D 0.899 T T D 0.494 0.855 0.919 . D D D D D D 4.254 29.200 0.999 D D 0.691 6.990 0.586 6.050 1.000 0.707 0.702 0.725 0.711 . 4.560 3.630 5.763 1.016 0.587 1.000 0.999 0.997 275 Pecanex,_C-terminal . . ID=COSV63136005;OCCURENCE=2(skin) PCNX3 98 0 86 22 0.203703703703704 TRUE TRUE +ENSG00000166004.15 . BCM GRCh38.p13 chr11 93698675 93698675 + G G C Missense_Mutation SNP ENST00000325212.11 exon15 c.G3763C p.D1255H exonic ENSG00000166004.15 . nonsynonymous SNV ENSG00000166004.15:ENST00000325212.11:exon15:c.G3763C:p.D1255H 11q21 C3L-01286 . . . . . . . . . 4.19 D T D P N N . T N 0.109 T T D 0.070 0.141 0.030 0.460 T T T T D T 2.303 21.600 0.991 N N 0.005 2.530 -0.113 2.010 0.694 0.566 0.654 0.609 0.674 . 5.790 3.870 1.149 1.176 0.676 0.005 0.246 0.534 834 . . . . CEP295 195 0 184 55 0.230125523012552 TRUE TRUE +ENSG00000159403.18 . BCM GRCh38.p13 chr12 7081243 7081243 + T T - Frame_Shift_Del DEL ENST00000647956.2 exon11 c.1407delA p.A470Pfs*61 exonic ENSG00000159403.18 . frameshift deletion ENSG00000159403.18:ENST00000647956.2:exon11:c.1407delA:p.A470Pfs*61 12p13.31 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1R 415 0 374 44 0.105263157894737 TRUE TRUE +ENSG00000172867.4 . BCM GRCh38.p13 chr12 52647755 52647755 + C C T Missense_Mutation SNP ENST00000309680.4 exon6 c.G1223A p.G408E exonic ENSG00000172867.4 . nonsynonymous SNV ENSG00000172867.4:ENST00000309680.4:exon6:c.G1223A:p.G408E 12q13.13 C3L-01286 . . . . . . . . . 8.19 D D D P . N M T N 0.490 T D D 0.389 0.512 0.837 0.528 T T T T D D 2.229 21.100 0.974 N N -0.203 1.869 -0.355 1.454 0.155 0.497 0.590 0.547 0.542 . 4.890 3.000 -0.634 0.103 0.594 0.000 0.916 0.789 804 Intermediate_filament,_rod_domain . . . KRT2 454 0 336 114 0.253333333333333 TRUE NA +ENSG00000189182.10 . BCM GRCh38.p13 chr12 52702942 52702942 + G G A Missense_Mutation SNP ENST00000341809.8 exon1 c.C493T p.R165W exonic ENSG00000189182.10 . nonsynonymous SNV ENSG00000189182.10:ENST00000341809.8:exon1:c.C493T:p.R165W 12q13.13 C3L-01286 0.0004 9.61e-05 0.0009 0.0036 0 0 0 0.0001 rs199766670 16.19 D D D D . D H D D 0.446 D D D 0.663 . 0.980 0.765 T D T D T D 3.652 25.200 0.999 D D 0.576 5.685 0.427 4.553 0.001 0.497 0.590 0.547 0.613 . 4.610 2.750 1.726 1.176 0.618 1.000 1.000 0.992 670 Intermediate_filament,_rod_domain . . ID=COSV59239972;OCCURENCE=1(pancreas) KRT77 118 0 120 37 0.235668789808917 TRUE TRUE +ENSG00000198707.16 . BCM GRCh38.p13 chr12 88129720 88129720 + T T A Nonsense_Mutation SNP ENST00000552810.6 exon10 c.A826T p.K276X exonic ENSG00000198707.16 . stopgain ENSG00000198707.16:ENST00000552810.6:exon10:c.A826T:p.K276X 12q21.32 C3L-01286 . . . . . . . . . 5.6 . . . . D A . . . 0.908 . . . . . . . . . D D . . 6.825 36 0.992 D N 0.684 6.900 0.511 5.263 0.985 0.651 0.634 0.602 0.684 . 4.660 4.660 5.372 1.118 0.665 1.000 0.999 0.993 844 . . . . CEP290 70 0 18 22 0.55 TRUE TRUE +ENSG00000136040.9 . BCM GRCh38.p13 chr12 94227155 94227155 + T T C Missense_Mutation SNP ENST00000258526.9 exon9 c.T1900C p.C634R exonic ENSG00000136040.9 . nonsynonymous SNV ENSG00000136040.9:ENST00000258526.9:exon9:c.T1900C:p.C634R 12q22 C3L-01286 . . . . . . . . . 9.20 D T B B N D M T D 0.866 T T D 0.260 0.767 0.810 0.964 T D D D T T 2.444 22.300 0.894 D N -0.234 1.784 -0.150 1.911 1.000 0.503 0.623 0.537 0.542 . 5.360 5.360 3.509 1.138 0.665 0.989 0.439 0.473 963 PSI_domain . . . PLXNC1 139 0 124 61 0.32972972972973 TRUE TRUE +ENSG00000136040.9 . BCM GRCh38.p13 chr12 94237799 94237799 + G G T Missense_Mutation SNP ENST00000258526.9 exon10 c.G2116T p.D706Y exonic ENSG00000136040.9 . nonsynonymous SNV ENSG00000136040.9:ENST00000258526.9:exon10:c.G2116T:p.D706Y 12q22 C3L-01286 . . . . . . . . . 10.20 D D D D N D L T N 0.616 T T D 0.494 0.530 0.406 1.340 T T D T D T 5.066 33 0.996 D D 0.651 6.490 0.701 7.763 1.000 0.707 0.725 0.659 0.530 . 5.990 5.990 6.173 1.176 0.676 1.000 1.000 0.975 952 IPT_domain . . . PLXNC1 151 0 121 27 0.182432432432432 TRUE TRUE +ENSG00000185046.18 . BCM GRCh38.p13 chr12 99246360 99246360 + A A T Missense_Mutation SNP ENST00000547776.6 exon13 c.T2261A p.V754D exonic ENSG00000185046.18 . nonsynonymous SNV ENSG00000185046.18:ENST00000547776.6:exon13:c.T2261A:p.V754D 12q23.1 C3L-01286 . . . . . . . . . 5.20 D T B B N D N T N 0.489 T T T 0.178 0.152 0.635 0.082 T T T T D T 2.455 22.300 0.943 D D -0.109 2.145 0.074 2.631 0.003 0.487 0.574 0.547 0.564 . 5.210 5.210 3.332 1.312 0.756 1.000 1.000 0.985 863 . . . . ANKS1B 91 0 73 30 0.29126213592233 TRUE TRUE +ENSG00000132950.19 . BCM GRCh38.p13 chr13 19825083 19825097 + CTGTGAAGTCTTTTC CTGTGAAGTCTTTTC - In_Frame_Del DEL ENST00000337963.9 exon8 c.1390_1404del p.E464_Q468del exonic ENSG00000132950.19 . nonframeshift deletion ENSG00000132950.19:ENST00000337963.9:exon8:c.1390_1404del:p.E464_Q468del 13q12.11 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZMYM5 299 0 161 42 0.206896551724138 TRUE TRUE +ENSG00000102755.12 . BCM GRCh38.p13 chr13 28427843 28427843 + - NA A Frame_Shift_Ins NA ENST00000282397.9 exon9 c.1184dupT p.T396Nfs*2 exonic ENSG00000102755.12 . frameshift insertion ENSG00000102755.12:ENST00000282397.9:exon9:c.1184dupT:p.T396Nfs*2 13q12.3 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLT1 NA NA NA NA NA NA NA +ENSG00000151320.11 . BCM GRCh38.p13 chr14 32546597 32546597 + A A C Missense_Mutation SNP ENST00000280979.9 exon4 c.A1944C p.E648D exonic ENSG00000151320.11 . nonsynonymous SNV ENSG00000151320.11:ENST00000280979.9:exon4:c.A1944C:p.E648D 14q12 C3L-01286 . . . . . . . . . 8.19 D T D D D D L T N 0.514 T T T 0.192 0.388 0.467 0.353 T T T T D D 3.112 23.700 0.998 D . 0.450 4.670 0.420 4.504 0.998 0.554 0.588 0.574 0.542 . 6.110 3.780 2.433 0.324 0.756 1.000 1.000 0.999 739 . . . . AKAP6 273 0 233 77 0.248387096774194 TRUE TRUE +ENSG00000100592.15 . BCM GRCh38.p13 chr14 59347597 59347597 + G G T Missense_Mutation SNP ENST00000395125.1 exon17 c.G2164T p.D722Y exonic ENSG00000100592.15 . nonsynonymous SNV ENSG00000100592.15:ENST00000395125.1:exon17:c.G2164T:p.D722Y 14q23.1 C3L-01286 . . . . . . . . . 14.20 D D D D D D M T D 0.731 T T T 0.573 0.399 0.622 1.112 T T D D D D 4.565 32 0.996 D D 0.998 13.862 0.986 18.006 1.000 0.706 0.654 0.710 0.714 . 6.060 6.060 9.992 1.164 0.662 1.000 1.000 0.997 818 Formin,_FH2_domain . . . DAAM1 175 0 142 29 0.169590643274854 TRUE NA +ENSG00000126814.7 . BCM GRCh38.p13 chr14 60975777 60975777 + G G A Missense_Mutation SNP ENST00000261249.7 exon4 c.C1142T p.S381F exonic ENSG00000126814.7 . nonsynonymous SNV ENSG00000126814.7:ENST00000261249.7:exon4:c.C1142T:p.S381F 14q23.1 C3L-01286 . . . . . . . . . 0.15 T T . . N N . T N 0.353 T T T 0.117 0.507 0.171 0.116 T . T T T . 2.257 21.300 0.995 N N -0.671 0.861 -0.455 1.276 1.000 0.707 0.725 0.702 0.714 . 6.170 5.290 1.776 0.230 -0.106 0.006 0.936 0.996 345 . . . . TRMT5 346 0 323 79 0.196517412935323 TRUE TRUE +ENSG00000119608.13 . BCM GRCh38.p13 chr14 74855151 74855151 + G G A Missense_Mutation SNP ENST00000556489.3 exon4 c.C1760T p.S587F exonic ENSG00000119608.13 . nonsynonymous SNV ENSG00000119608.13:ENST00000556489.3:exon4:c.C1760T:p.S587F 14q24.3 C3L-01286 . . . . . . . . . 11.19 D D D D N D . T D 0.267 T T D 0.347 0.280 0.588 0.324 T T T T D D 3.969 26.800 0.998 D D 0.818 9.143 0.775 9.435 1.000 0.554 0.588 0.547 0.421 . 5.220 5.220 7.816 1.176 0.676 1.000 0.997 0.988 721 Homeo-prospero_domain . . . PROX2 68 0 46 14 0.233333333333333 TRUE TRUE +ENSG00000119718.11 . BCM GRCh38.p13 chr14 75009054 75009054 + G G T Missense_Mutation SNP ENST00000266126.10 exon8 c.G922T p.V308L exonic ENSG00000119718.11 . nonsynonymous SNV ENSG00000119718.11:ENST00000266126.10:exon8:c.G922T:p.V308L 14q24.3 C3L-01286 . . . . . . . . . 13.20 T T B B D D M D N 0.531 D D D 0.474 0.550 0.978 0.953 T T D D D D 3.263 24.000 0.997 D D 0.071 2.774 0.244 3.405 1.000 0.672 0.702 0.702 0.711 . 5.700 4.800 8.139 1.176 0.676 1.000 0.996 0.969 588 . . . . EIF2B2 402 0 220 203 0.479905437352246 TRUE TRUE +ENSG00000165521.15 . BCM GRCh38.p13 chr14 88661743 88661743 + C C A Missense_Mutation SNP ENST00000380664.9 exon25 c.G3586T p.V1196L exonic ENSG00000165521.15 . nonsynonymous SNV ENSG00000165521.15:ENST00000380664.9:exon25:c.G3586T:p.V1196L 14q31.3 C3L-01286 . . . . . . . . . 8.20 D D P P N D M T N 0.529 T T D 0.169 0.620 0.368 0.391 T T T T D D 2.688 22.800 0.983 D N -0.305 1.601 -0.430 1.319 0.000 0.487 0.574 0.547 0.564 . 4.420 -1.040 2.552 -0.238 -0.257 0.996 0.963 0.952 782 . . . . EML5 160 1 113 67 0.372222222222222 TRUE TRUE +ENSG00000273749.5 . BCM GRCh38.p13 chr15 22903727 22903727 + C C T Missense_Mutation SNP ENST00000617928.5 exon22 c.G2567A p.C856Y exonic ENSG00000273749.5 . nonsynonymous SNV ENSG00000273749.5:ENST00000617928.5:exon22:c.G2567A:p.C856Y 15q11.2 C3L-01286 . . . . . . . . . 3.4 . D . . . . . . . 0.959 . . . . . . . . T . . . D 4.093 27.700 . . D . . . . . . . . . . . . 7.773 1.026 0.599 1.000 0.999 0.996 946 . . . . CYFIP1 286 0 142 81 0.36322869955157 TRUE TRUE +ENSG00000153446.15 . BCM GRCh38.p13 chr16 5044701 5044701 + A A G Missense_Mutation SNP ENST00000315997.5 exon8 c.T1091C p.L364P exonic ENSG00000153446.15 . nonsynonymous SNV ENSG00000153446.15:ENST00000315997.5:exon8:c.T1091C:p.L364P 16p13.3 C3L-01286 . . . . . . . . . 1.18 D T B B . N N T N 0.088 T T T 0.033 0.544 0.040 0.006 . T T T T T 0.085 1.961 0.185 N N -1.701 0.036 -1.781 0.037 0.890 0.554 0.588 0.550 0.542 . 0.158 -0.317 -0.635 -2.044 -0.495 0.003 0.000 0.001 862 . . . . C16orf89 49 0 52 17 0.246376811594203 NA TRUE +ENSG00000234719.9 . BCM GRCh38.p13 chr16 11930549 11930549 + T T A Missense_Mutation SNP ENST00000399147.8 exon5 c.A491T p.K164I exonic ENSG00000234719.9 . nonsynonymous SNV ENSG00000234719.9:ENST00000399147.8:exon5:c.A491T:p.K164I 16p13.13 C3L-01286 . . . . . . . . . 3.13 D D . . . . . T D 0.211 T T T 0.083 0.541 0.627 1.353 . . T T T T 2.224 21.000 0.991 N N -0.025 2.423 -0.482 1.231 0.000 0.693 0.659 0.618 0.621 . . . 0.077 0.090 0.091 0.195 0.164 0.227 748 . . . . NPIPB2 365 0 282 89 0.23989218328841 NA TRUE +ENSG00000280789.2 . BCM GRCh38.p13 chr16 29816793 29816793 + C C T Missense_Mutation SNP ENST00000320330.8 exon1 c.C268T p.P90S exonic ENSG00000280789.2 . nonsynonymous SNV ENSG00000280789.2:ENST00000320330.8:exon1:c.C268T:p.P90S 16p11.2 C3L-01286 . . . . . . . . . 2.19 T T B B N N M . N 0.378 T T T 0.011 0.274 0.159 . T T T T D T 1.957 18.930 0.988 N N -0.276 1.675 -0.125 1.977 1.000 0.442 0.522 0.522 0.562 . 5.210 3.140 0.414 1.022 0.545 0.020 1.000 0.999 252 . . . . PAGR1 311 0 223 70 0.238907849829352 TRUE TRUE +ENSG00000161973.11 . BCM GRCh38.p13 chr17 8730149 8730149 + T T C Missense_Mutation SNP ENST00000293845.8 exon7 c.A932G p.Q311R exonic ENSG00000161973.11 . nonsynonymous SNV ENSG00000161973.11:ENST00000293845.8:exon7:c.A932G:p.Q311R 17p13.1 C3L-01286 8.275e-06 0 0 0 0 1.505e-05 0 0 rs781345210 1.20 D T B B N N L T N 0.134 T T T 0.031 0.191 0.319 0.486 T T T T T T 1.329 14.590 0.993 N N -0.737 0.751 -0.692 0.911 0.000 0.497 0.590 0.578 0.542 . 5.290 1.680 0.317 1.109 0.665 0.278 0.946 0.905 809 . . . . CCDC42 224 0 163 60 0.269058295964126 TRUE NA +ENSG00000176927.15 . BCM GRCh38.p13 chr17 30051192 30051192 + G G C Missense_Mutation SNP ENST00000394835.7 exon9 c.G1275C p.R425S exonic ENSG00000176927.15 . nonsynonymous SNV ENSG00000176927.15:ENST00000394835.7:exon9:c.G1275C:p.R425S 17q11.2 C3L-01286 . . . . . . . . . 6.20 D D D P N N M T D 0.552 T T T 0.160 0.306 0.326 0.407 T T T T D T 2.513 22.400 0.988 N N -0.484 1.208 -0.661 0.956 0.000 0.487 0.590 0.574 0.530 . 5.210 -0.710 0.857 -0.917 -0.116 0.001 0.444 0.774 815 . . . . EFCAB5 160 0 132 46 0.258426966292135 TRUE TRUE +ENSG00000173801.17 . BCM GRCh38.p13 chr17 41767435 41767439 + GGAAC GGAAC - Frame_Shift_Del DEL ENST00000393931.8 exon5 c.849_853del p.K283Nfs*37 exonic ENSG00000173801.17 . frameshift deletion ENSG00000173801.17:ENST00000393931.8:exon5:c.849_853del:p.K283Nfs*37 17q21.2 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JUP 511 0 358 92 0.204444444444444 TRUE TRUE +ENSG00000085415.16 . BCM GRCh38.p13 chr18 12948167 12948167 + C C G Missense_Mutation SNP ENST00000262124.15 exon1 c.C46G p.H16D exonic ENSG00000085415.16 . nonsynonymous SNV ENSG00000085415.16:ENST00000262124.15:exon1:c.C46G:p.H16D 18p11.21 C3L-01286 . . . . . . . . . 15.20 D D D D D D L T D 0.587 T T D 0.512 0.525 0.896 3.266 D T D D D D 4.059 27.400 0.984 D D 0.596 5.880 0.506 5.214 1.000 0.442 0.522 0.522 0.373 . 4.210 4.210 5.017 1.013 0.594 1.000 0.999 0.966 628 WD40-repeat-containing_domain . . . SEH1L 210 0 120 46 0.27710843373494 TRUE TRUE +ENSG00000089847.12 . BCM GRCh38.p13 chr19 4217723 4217723 + G G A Missense_Mutation SNP ENST00000600132.5 exon18 c.G2563A p.E855K exonic ENSG00000089847.12 . nonsynonymous SNV ENSG00000089847.12:ENST00000600132.5:exon18:c.G2563A:p.E855K 19p13.3 C3L-01286 0 0 . 0 0 0 . 0 rs758342016 3.19 T D B B . N L T N 0.116 T T D 0.047 0.396 0.286 0.894 D T T T T T 1.827 17.930 0.998 N N -0.545 1.089 -0.445 1.294 0.000 0.646 0.588 0.645 0.605 . 4.230 3.170 0.664 0.967 0.559 0.000 0.635 0.407 922 . . . . ANKRD24 13 0 6 13 0.684210526315789 TRUE NA +ENSG00000178150.10 . BCM GRCh38.p13 chr19 48285848 48285848 + G G T Missense_Mutation SNP ENST00000595607.6 exon6 c.G224T p.C75F exonic ENSG00000178150.10 . nonsynonymous SNV ENSG00000178150.10:ENST00000595607.6:exon6:c.G224T:p.C75F 19q13.33 C3L-01286 . . . . . . . . . 0.19 T T P B . N L T N 0.150 T T T 0.034 0.266 0.105 0.496 T T T T T T 0.204 3.174 0.951 N N -0.867 0.562 -1.039 0.442 0.097 0.672 0.588 0.702 0.613 . 1.980 -0.203 -0.454 0.701 0.545 0.000 0.002 0.006 917 Krueppel-associated_box . . . ZNF114 204 0 213 18 0.0779220779220779 TRUE TRUE +ENSG00000104888.10 . BCM GRCh38.p13 chr19 49434877 49434882 + AAAACT AAAACT - In_Frame_Del DEL ENST00000221485.8 exon4 c.435_440del p.R145_F147delinsS exonic ENSG00000104888.10 . nonframeshift deletion ENSG00000104888.10:ENST00000221485.8:exon4:c.435_440del:p.R145_F147delinsS 19q13.33 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC17A7 194 0 82 82 0.5 TRUE TRUE +ENSG00000104870.13 . BCM GRCh38.p13 chr19 49514124 49514124 + G G T Missense_Mutation SNP ENST00000221466.10 exon3 c.G316T p.G106W exonic ENSG00000104870.13 . nonsynonymous SNV ENSG00000104870.13:ENST00000221466.10:exon3:c.G316T:p.G106W 19q13.33 C3L-01286 1.706e-05 0 0 0 0 3.094e-05 0 0 rs201043787 3.20 D D D P N N L T N 0.331 T T T 0.058 . 0.165 0.980 T T T T T T 2.117 20.200 0.968 N N -0.610 0.969 -0.848 0.691 0.999 0.767 0.588 0.851 0.651 . 4.830 -2.570 -0.542 0.125 -0.149 0.000 0.023 0.016 794 MHC_class_I-like_antigen_recognition-like . . ID=COSV99675377;OCCURENCE=1(skin) FCGRT 69 0 65 22 0.252873563218391 TRUE TRUE +ENSG00000126583.11 . BCM GRCh38.p13 chr19 53900632 53900638 + GATGCTG GATGCTG - Frame_Shift_Del DEL ENST00000263431.4 exon14 c.1458_1464del p.D489Rfs*32 exonic ENSG00000126583.11 . frameshift deletion ENSG00000126583.11:ENST00000263431.4:exon14:c.1458_1464del:p.D489Rfs*32 19q13.42 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKCG 588 1 442 155 0.25963149078727 TRUE TRUE +ENSG00000101412.13 . BCM GRCh38.p13 chr20 33678281 33678281 + C C A Missense_Mutation SNP ENST00000343380.6 exon4 c.G645T p.E215D exonic ENSG00000101412.13 . nonsynonymous SNV ENSG00000101412.13:ENST00000343380.6:exon4:c.G645T:p.E215D 20q11.22 C3L-01286 . . . . . . . . . 3.20 T T B B N D L D N 0.101 T T D 0.133 0.239 0.500 0.537 T T T T T T 0.917 10.610 0.987 N N -0.704 0.807 -0.628 1.005 1.000 0.706 0.702 0.698 0.613 . 5.340 2.310 -0.036 1.026 0.599 0.000 0.882 0.689 123 E2F_transcription_factor,_CC-MB_domain . . . E2F1 133 0 236 32 0.119402985074627 TRUE TRUE +ENSG00000025293.17 . BCM GRCh38.p13 chr20 35938976 35938976 + G G T Missense_Mutation SNP ENST00000374012.8 exon16 c.G2580T p.R860S exonic ENSG00000025293.17 . nonsynonymous SNV ENSG00000025293.17:ENST00000374012.8:exon16:c.G2580T:p.R860S 20q11.23 C3L-01286 . . . . . . . . . 13.20 D D D D D D M T N 0.576 T T D 0.362 0.444 0.743 1.258 T T D D D D 2.658 22.700 0.994 D N -0.030 2.405 -0.153 1.902 0.696 0.707 0.725 0.688 0.714 . 5.720 -0.339 0.667 -0.101 -0.113 1.000 0.839 0.529 669 . . . . PHF20 251 0 137 314 0.696230598669623 TRUE TRUE +ENSG00000183798.5 . BCM GRCh38.p13 chr20 41361743 41361743 + G G T Missense_Mutation SNP ENST00000332312.4 exon4 c.C1826A p.S609Y exonic ENSG00000183798.5 . nonsynonymous SNV ENSG00000183798.5:ENST00000332312.4:exon4:c.C1826A:p.S609Y 20q12 C3L-01286 . . . . . . . . . 15.20 D D D D D D L T D 0.673 D D D 0.500 0.371 0.948 0.678 T T D D D T 3.971 26.800 0.994 D D 0.550 5.445 0.530 5.445 1.000 0.646 0.590 0.645 0.568 . 4.860 4.860 6.433 1.164 0.662 1.000 0.999 0.987 955 . . . . EMILIN3 106 0 129 92 0.416289592760181 TRUE TRUE +ENSG00000149654.11 . BCM GRCh38.p13 chr20 46210377 46210377 + C C T Missense_Mutation SNP ENST00000537909.4 exon7 c.G1216A p.D406N exonic ENSG00000149654.11 . nonsynonymous SNV ENSG00000149654.11:ENST00000537909.4:exon7:c.G1216A:p.D406N 20q13.12 C3L-01286 . . . . . . . . rs926295661 8.20 T T D P D D N T D 0.412 T T D 0.232 0.635 0.519 . T T T T D D 3.338 24.200 0.997 D N 0.011 2.550 0.097 2.722 1.000 0.581 0.590 0.576 0.563 . 3.960 3.960 3.289 0.962 0.519 1.000 1.000 0.999 511 Cadherin-like . . . CDH22 47 0 95 16 0.144144144144144 TRUE NA +ENSG00000128268.12 . BCM GRCh38.p13 chr22 39488120 39488120 + C C G Missense_Mutation SNP ENST00000341184.7 exon2 c.C773G p.T258S exonic ENSG00000128268.12 . nonsynonymous SNV ENSG00000128268.12:ENST00000341184.7:exon2:c.C773G:p.T258S 22q13.1 C3L-01286 . . . . . . . . . 2.19 T T B B N N N . N 0.124 T T T 0.025 0.305 0.234 0.998 T T T T T T 1.605 16.410 0.850 D D -0.473 1.231 -0.245 1.681 1.000 0.672 0.702 0.723 0.563 . 5.430 3.190 2.786 1.022 0.596 1.000 1.000 0.996 906 . . . . MGAT3 153 0 35 99 0.738805970149254 TRUE TRUE +ENSG00000198947.15 . BCM GRCh38.p13 chrX 32518057 32518057 + G G T Missense_Mutation SNP ENST00000357033.8 exon18 c.C2243A p.A748E exonic ENSG00000198947.15 . nonsynonymous SNV ENSG00000198947.15:ENST00000357033.8:exon18:c.C2243A:p.A748E Xp21.1 C3L-01286 . . . . . . . . . 9.18 T D D D U D . T N 0.779 T T D 0.182 0.403 0.872 0.113 T T D T D D 2.107 20.200 0.981 D . . . . . 0.998 . . . . . 5.070 5.070 7.656 1.166 0.665 1.000 1.000 0.986 738 . . . . DMD 133 0 114 60 0.344827586206897 TRUE TRUE +ENSG00000104290.11 . BCM GRCh38.p13 chr8 28551753 28551753 + T T G Splice_Site SNP NA NA NA NA splicing ENSG00000104290.11 ENST00000240093.8:exon6:c.1553+2T>G . . 8p21.1 C3L-01286 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.616 34 0.995 D . 1.098 17.415 0.941 15.626 1.000 0.075 0.085 0.060 0.057 0.962 5.170 5.170 7.519 1.138 0.609 1.000 1.000 0.989 663 . . . . FZD3 120 0 72 54 0.428571428571429 TRUE TRUE +ENSG00000154263.17 . BCM GRCh38.p13 chr17 69149031 69149031 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000154263.17 ENST00000269081.8:exon39:c.4533+2T>A . . 17q24.3 C3L-01286 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.423 31 0.986 D . 0.767 8.176 0.510 5.247 0.115 0.054 0.061 0.063 0.063 0.747 2.530 2.530 4.664 1.307 0.660 1.000 0.784 0.243 901 . . . . ABCA10 100 0 127 25 0.164473684210526 TRUE TRUE +ENSG00000105373.19 . BCM GRCh38.p13 chr19 47756686 47756686 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000105373.19 ENST00000246802.10:exon12:c.1374-2A>T . . 19q13.33 C3L-01286 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.280 29.400 0.994 D . 1.008 14.170 0.818 10.688 1.000 0.257 0.272 0.123 0.090 0.972 4.790 4.790 4.186 1.312 0.756 0.999 0.902 0.657 900 . . . . NOP53 230 0 174 68 0.28099173553719 TRUE TRUE +ENSG00000121764.11 . BCM GRCh38.p13 chr1 31625030 31625030 + C C T Silent SNP ENST00000403528.6 exon7 c.C999T p.R333R exonic ENSG00000121764.11 . synonymous SNV ENSG00000121764.11:ENST00000403528.6:exon7:c.C999T:p.R333R 1p35.2 C3L-01286 8.292e-06 0 0 0 0 1.506e-05 0 0 rs200222372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HCRTR1 86 0 46 16 0.258064516129032 TRUE NA +ENSG00000135773.13 . BCM GRCh38.p13 chr1 230759630 230759630 + G G A Silent SNP ENST00000271971.7 exon3 c.G402A p.Q134Q exonic ENSG00000135773.13 . synonymous SNV ENSG00000135773.13:ENST00000271971.7:exon3:c.G402A:p.Q134Q 1q42.2 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAPN9 77 0 87 21 0.194444444444444 TRUE TRUE +ENSG00000116127.18 . BCM GRCh38.p13 chr2 73448504 73448504 + G G A Silent SNP ENST00000613296.5 exon8 c.G1977A p.T659T exonic ENSG00000116127.18 . synonymous SNV ENSG00000116127.18:ENST00000613296.5:exon8:c.G1977A:p.T659T 2p13.1 C3L-01286 4.146e-05 0.0005 0 0 0 0 0 0 rs201316401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALMS1 159 0 160 50 0.238095238095238 TRUE NA +ENSG00000172318.5 . BCM GRCh38.p13 chr2 167869237 167869237 + T T C Silent SNP ENST00000392690.3 exon1 c.T198C p.L66L exonic ENSG00000172318.5 . synonymous SNV ENSG00000172318.5:ENST00000392690.3:exon1:c.T198C:p.L66L 2q24.3 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . B3GALT1 124 0 64 69 0.518796992481203 TRUE TRUE +ENSG00000055957.11 . BCM GRCh38.p13 chr3 52784345 52784345 + G G A Silent SNP ENST00000273283.7 exon11 c.G1275A p.R425R exonic ENSG00000055957.11 . synonymous SNV ENSG00000055957.11:ENST00000273283.7:exon11:c.G1275A:p.R425R 3p21.1 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITIH1 131 0 37 42 0.531645569620253 TRUE TRUE +ENSG00000181804.15 . BCM GRCh38.p13 chr3 143495425 143495425 + C C T Silent SNP ENST00000316549.11 exon10 c.G1113A p.L371L exonic ENSG00000181804.15 . synonymous SNV ENSG00000181804.15:ENST00000316549.11:exon10:c.G1113A:p.L371L 3q24 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC9A9 206 0 112 63 0.36 TRUE TRUE +ENSG00000112303.14 . BCM GRCh38.p13 chr6 132749779 132749779 + G G A Silent SNP ENST00000326499.11 exon6 c.C1287T p.F429F exonic ENSG00000112303.14 . synonymous SNV ENSG00000112303.14:ENST00000326499.11:exon6:c.C1287T:p.F429F 6q23.2 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VNN2 189 0 91 31 0.254098360655738 TRUE TRUE +ENSG00000158525.15 . BCM GRCh38.p13 chr7 130362928 130362928 + G G T Silent SNP ENST00000485477.5 exon8 c.G681T p.L227L exonic ENSG00000158525.15 . synonymous SNV ENSG00000158525.15:ENST00000485477.5:exon8:c.G681T:p.L227L 7q32.2 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPA5 138 0 149 40 0.211640211640212 TRUE TRUE +ENSG00000196453.8 . BCM GRCh38.p13 chr7 149451069 149451069 + G G A Silent SNP ENST00000247930.5 exon4 c.C1017T p.R339R exonic ENSG00000196453.8 . synonymous SNV ENSG00000196453.8:ENST00000247930.5:exon4:c.C1017T:p.R339R 7q36.1 C3L-01286 2.488e-05 0 0 0 0 4.504e-05 0 0 rs373973043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56097800;OCCURENCE=1(large_intestine),1(stomach) ZNF777 197 0 202 51 0.201581027667984 TRUE TRUE +ENSG00000065328.16 . BCM GRCh38.p13 chr10 13189051 13189051 + G G A Silent SNP ENST00000484800.6 exon10 c.G1389A p.G463G exonic ENSG00000065328.16 . synonymous SNV ENSG00000065328.16:ENST00000484800.6:exon10:c.G1389A:p.G463G 10p13 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MCM10 300 0 165 72 0.30379746835443 TRUE TRUE +ENSG00000183251.4 . BCM GRCh38.p13 chr11 5301113 5301113 + A A G Silent SNP ENST00000380224.2 exon1 c.T834C p.F278F exonic ENSG00000183251.4 . synonymous SNV ENSG00000183251.4:ENST00000380224.2:exon1:c.T834C:p.F278F 11p15.4 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR51B4 151 1 158 9 0.0538922155688623 TRUE TRUE +ENSG00000127720.8 . BCM GRCh38.p13 chr12 82477301 82477301 + C C T Silent SNP ENST00000248306.8 exon11 c.C1668T p.P556P exonic ENSG00000127720.8 . synonymous SNV ENSG00000127720.8:ENST00000248306.8:exon11:c.C1668T:p.P556P 12q21.31 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50261609;OCCURENCE=1(skin) METTL25 111 0 49 8 0.140350877192982 TRUE TRUE +ENSG00000111670.16 . BCM GRCh38.p13 chr12 101764451 101764451 + G G C Silent SNP ENST00000299314.12 exon13 c.C2466G p.T822T exonic ENSG00000111670.16 . synonymous SNV ENSG00000111670.16:ENST00000299314.12:exon13:c.C2466G:p.T822T 12q23.2 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GNPTAB 136 0 126 39 0.236363636363636 TRUE TRUE +ENSG00000089116.4 . BCM GRCh38.p13 chr12 113471466 113471466 + G G A Silent SNP ENST00000261731.4 exon1 c.C33T p.P11P exonic ENSG00000089116.4 . synonymous SNV ENSG00000089116.4:ENST00000261731.4:exon1:c.C33T:p.P11P 12q24.13 C3L-01286 . . . . . . . . rs897376357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LHX5 178 0 137 57 0.293814432989691 TRUE NA +ENSG00000196557.13 . BCM GRCh38.p13 chr16 1218449 1218449 + C C T Silent SNP ENST00000348261.11 exon33 c.C5685T p.D1895D exonic ENSG00000196557.13 . synonymous SNV ENSG00000196557.13:ENST00000348261.11:exon33:c.C5685T:p.D1895D 16p13.3 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52356542;OCCURENCE=2(large_intestine) CACNA1H 123 0 94 34 0.265625 TRUE TRUE +ENSG00000179094.16 . BCM GRCh38.p13 chr17 8141332 8141332 + C C T Silent SNP ENST00000317276.9 exon23 c.G3609A p.V1203V exonic ENSG00000179094.16 . synonymous SNV ENSG00000179094.16:ENST00000317276.9:exon23:c.G3609A:p.V1203V 17p13.1 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PER1 58 0 40 13 0.245283018867925 TRUE TRUE +ENSG00000170558.9 . BCM GRCh38.p13 chr18 28005850 28005850 + A A G Silent SNP ENST00000269141.8 exon6 c.T846C p.P282P exonic ENSG00000170558.9 . synonymous SNV ENSG00000170558.9:ENST00000269141.8:exon6:c.T846C:p.P282P 18q12.1 C3L-01286 2.478e-05 0 0 0 0 4.507e-05 0 0 rs200547719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH2 93 0 68 35 0.339805825242718 TRUE NA +ENSG00000130584.11 . BCM GRCh38.p13 chr20 63790674 63790674 + G G A Silent SNP ENST00000395104.5 exon1 c.C84T p.G28G exonic ENSG00000130584.11 . synonymous SNV ENSG00000130584.11:ENST00000395104.5:exon1:c.C84T:p.G28G 20q13.33 C3L-01286 3.372e-05 0.0003 0 0 0 1.544e-05 0 0 rs368634130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55511323;OCCURENCE=1(large_intestine) ZBTB46 118 0 46 164 0.780952380952381 TRUE TRUE +ENSG00000170549.4 . BCM GRCh38.p13 chr5 3610257 3610257 + G G A IGR SNP NA NA NA NA intergenic ENSG00000170549.4;ENSG00000248962.1 dist=8854;dist=402451 . . 5p15.33 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRX1 192 1 130 98 0.429824561403509 TRUE NA +ENSG00000254377.6 . BCM GRCh38.p13 chr8 64378189 64378189 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254377.6 . . . 8q12.3 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR124-2HG 77 0 44 8 0.153846153846154 TRUE NA +ENSG00000134532.19 . BCM GRCh38.p13 chr12 23533209 23533209 + G G T 3'UTR SNP NA NA NA NA UTR3 ENSG00000134532.19 ENST00000451604.7:c.*1010C>A . . 12p12.1 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOX5 104 0 71 20 0.21978021978022 TRUE NA +ENSG00000092108.21 . BCM GRCh38.p13 chr14 30644009 30644009 + C C T Intron SNP NA NA NA NA intronic ENSG00000092108.21 . . . 14q12 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCFD1 147 0 146 45 0.235602094240838 TRUE NA +ENSG00000165501.17 . BCM GRCh38.p13 chr14 49598843 49598843 + C C T 5'Flank SNP NA NA NA NA upstream ENSG00000165501.17 dist=97 . . 14q21.3 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRR1 95 0 73 32 0.304761904761905 TRUE NA +ENSG00000285848.1 . BCM GRCh38.p13 chr16 84838766 84838766 + C C A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000285848.1 . . . 16q24.1 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC025280.3 211 0 196 60 0.234375 TRUE NA +ENSG00000164253.14 . BCM GRCh38.p13 chr5 77436360 77436361 + GC GC AT Unknown MNP ENST00000296679.9 exon12 c.1127_1128delinsAT p.S376N exonic ENSG00000164253.14 . nonframeshift substitution ENSG00000164253.14:ENST00000296679.9:exon12:c.1127_1128delinsAT:p.S376N 5q13.3 C3L-01286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR41 258 75 181 75 0.29296875 TRUE TRUE +ENSG00000054523.17 . BCM GRCh38.p13 chr1 10282501 10282501 + C C T Missense_Mutation SNP ENST00000377086.5 exon15 c.C1402T p.P468S exonic ENSG00000054523.17 . nonsynonymous SNV ENSG00000054523.17:ENST00000377086.5:exon15:c.C1402T:p.P468S 1p36.22 C3L-01287 . . . . . . . . . 12.20 D T B B D D L T D 0.742 T T T 0.314 0.203 0.700 0.885 D D D D D D 2.864 23.100 0.991 D D -0.012 2.470 0.227 3.316 1.000 0.707 0.602 0.725 0.714 . 5.420 5.420 7.816 1.026 0.597 1.000 0.999 0.997 291 Kinesin-associated . . . KIF1B 351 0 481 38 0.0732177263969171 TRUE TRUE +ENSG00000188641.14 . BCM GRCh38.p13 chr1 97193185 97193185 + C C G Missense_Mutation SNP ENST00000370192.8 exon20 c.G2506C p.A836P exonic ENSG00000188641.14 . nonsynonymous SNV ENSG00000188641.14:ENST00000370192.8:exon20:c.G2506C:p.A836P 1p21.3 C3L-01287 . . . . . . . . . 18.20 T D D D D D H D D 0.896 D D D 0.752 0.611 0.987 0.395 T D D D D D 3.918 26.500 0.997 D D 0.965 12.864 0.922 14.736 1.000 0.731 0.537 0.618 0.649 . 5.960 5.960 6.612 1.026 0.599 1.000 1.000 0.998 637 Dihydroorotate_dehydrogenase_domain . . . DPYD 190 0 473 36 0.0707269155206287 TRUE TRUE +ENSG00000143621.17 . BCM GRCh38.p13 chr1 153662508 153662508 + G G T Nonsense_Mutation SNP ENST00000361891.9 exon14 c.C1061A p.S354X exonic ENSG00000143621.17 . stopgain ENSG00000143621.17:ENST00000361891.9:exon14:c.C1061A:p.S354X 1q21.3 C3L-01287 . . . . . . . . . 5.6 . . . . D D . . . 0.881 . . . . . . . . . D D . . 7.565 38 0.996 D N 1.040 15.227 0.920 14.621 1.000 0.672 0.702 0.702 0.711 . 5.380 5.380 7.892 1.176 0.676 1.000 1.000 0.988 270 DZF_domain . . . ILF2 75 0 266 55 0.171339563862928 TRUE TRUE +ENSG00000132677.13 . BCM GRCh38.p13 chr1 156384567 156384567 + C C A Missense_Mutation SNP ENST00000537040.6 exon9 c.C1275A p.D425E exonic ENSG00000132677.13 . nonsynonymous SNV ENSG00000132677.13:ENST00000537040.6:exon9:c.C1275A:p.D425E 1q22 C3L-01287 . . . . . . . . . 4.11 . T . . . D . . . 0.420 T T T 0.064 . 0.263 . T . T T D . 2.735 22.900 0.987 D D 0.023 2.593 0.120 2.817 0.999 0.646 0.547 0.645 0.613 . 5.940 3.760 1.202 1.026 0.599 0.611 0.968 0.864 691 . . . . RHBG 93 0 62 4 0.0606060606060606 TRUE NA +ENSG00000135870.12 . BCM GRCh38.p13 chr1 173952019 173952019 + T T - Frame_Shift_Del DEL ENST00000367696.7 exon14 c.2490delA p.D831Mfs*10 exonic ENSG00000135870.12 . frameshift deletion ENSG00000135870.12:ENST00000367696.7:exon14:c.2490delA:p.D831Mfs*10 1q25.1 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RC3H1 58 0 142 40 0.21978021978022 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146592 10146614 + TCAATGTTGACGGACAGCCTATT TCAATGTTGACGGACAGCCTATT - Frame_Shift_Del DEL ENST00000256474.3 exon2 c.419_441del p.N141Cfs*25 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon2:c.419_441del:p.N141Cfs*25 3p25.3 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 412 0 435 84 0.161849710982659 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52408056 52408056 + T T C Missense_Mutation SNP ENST00000460680.6 exon5 c.A277G p.T93A exonic ENSG00000163930.10 . nonsynonymous SNV ENSG00000163930.10:ENST00000460680.6:exon5:c.A277G:p.T93A 3p21.1 C3L-01287 . . . . . . . . rs375129361 19.20 D D D D D D H T D 0.986 D D D 0.829 0.874 0.839 2.408 D D D D D D 4.700 32 0.998 D D 0.954 12.538 0.866 12.371 1.000 0.707 0.672 0.725 0.714 . 5.490 5.490 7.766 1.138 0.665 1.000 0.997 0.995 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . ID=COSV56236966;OCCURENCE=1(breast),2(thyroid) BAP1 510 0 417 32 0.0712694877505568 TRUE TRUE +ENSG00000150471.16 . BCM GRCh38.p13 chr4 61934864 61934864 + C C T Missense_Mutation SNP ENST00000506720.5 exon12 c.C2137T p.L713F exonic ENSG00000150471.16 . nonsynonymous SNV ENSG00000150471.16:ENST00000506720.5:exon12:c.C2137T:p.L713F 4q13.1 C3L-01287 . . . . . . . . . 14.19 D D D D D D . T D 0.870 T T D 0.386 0.697 0.401 1.043 T T D D D D 3.370 24.300 0.999 D D 0.426 4.510 0.487 5.047 1.000 0.638 0.574 0.653 0.564 . 5.430 5.430 3.357 1.026 0.599 1.000 1.000 0.997 894 GAIN_domain,_N-terminal . . . ADGRL3 192 0 168 10 0.0561797752808989 TRUE TRUE +ENSG00000124491.16 . BCM GRCh38.p13 chr6 6145728 6145728 + C C T Missense_Mutation SNP ENST00000264870.8 exon15 c.G2090A p.R697Q exonic ENSG00000124491.16 . nonsynonymous SNV ENSG00000124491.16:ENST00000264870.8:exon15:c.G2090A:p.R697Q 6p25.1 C3L-01287 1.648e-05 0 0 0.0001 0 0 0 6.056e-05 rs768408371 0.15 T T . . N N . T N 0.069 T T T 0.072 0.540 0.619 0.257 T . T T T . 1.351 14.750 0.984 N N -0.865 0.565 -0.823 0.726 0.000 0.638 0.670 0.686 0.564 . 5.910 2.190 0.315 -0.236 -0.176 0.000 0.965 0.640 887 . . . . F13A1 430 0 379 32 0.0778588807785888 TRUE TRUE +ENSG00000164465.19 . BCM GRCh38.p13 chr6 117539357 117539357 + G G A Missense_Mutation SNP ENST00000338728.10 exon9 c.G1079A p.G360E exonic ENSG00000164465.19 . nonsynonymous SNV ENSG00000164465.19:ENST00000338728.10:exon9:c.G1079A:p.G360E 6q22.1 C3L-01287 . . . . . . . . . 11.20 T T D D N D L D N 0.409 D D D 0.563 0.593 0.965 0.907 T T D D T T 1.984 19.130 0.772 D D -0.050 2.338 0.085 2.674 1.000 0.707 0.588 0.602 0.714 . 4.830 3.950 5.058 0.929 0.590 1.000 1.000 0.988 793 Coagulation_factor_5/8_C-terminal_domain . . . DCBLD1 34 0 58 9 0.134328358208955 TRUE TRUE +ENSG00000175877.4 . BCM GRCh38.p13 chr7 73865049 73865049 + C C A Missense_Mutation SNP ENST00000320531.3 exon2 c.C129A p.F43L exonic ENSG00000175877.4 . nonsynonymous SNV ENSG00000175877.4:ENST00000320531.3:exon2:c.C129A:p.F43L 7q11.23 C3L-01287 . . . . . . . . . 7.19 D T D D D N . T D 0.674 T T T 0.219 0.463 0.151 0.069 T T T T D T 3.197 23.900 0.995 D N 0.247 3.516 0.194 3.153 0.213 0.554 0.547 0.602 0.613 . 4.430 2.590 0.821 0.078 0.587 0.998 0.868 0.894 940 . . . . TMEM270 32 0 35 5 0.125 TRUE TRUE +ENSG00000165102.15 . BCM GRCh38.p13 chr8 43140579 43140579 + C C - Frame_Shift_Del DEL ENST00000379644.9 exon1 c.83delC p.S28Ffs*14 exonic ENSG00000165102.15 . frameshift deletion ENSG00000165102.15:ENST00000379644.9:exon1:c.83delC:p.S28Ffs*14 8p11.21 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HGSNAT 36 0 42 4 0.0869565217391304 NA TRUE +ENSG00000147485.13 . BCM GRCh38.p13 chr8 51472248 51472248 + C C A Missense_Mutation SNP ENST00000356297.5 exon8 c.G751T p.V251F exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon8:c.G751T:p.V251F 8q11.22 C3L-01287 . . . . . . . . . 12.19 D D D D . D M T D 0.822 T T T 0.268 0.619 0.515 0.631 T T D T D D 2.802 23.000 0.994 D D 0.260 3.581 0.082 2.662 0.003 0.554 0.574 0.618 0.564 . 3.840 2.960 5.126 0.877 0.549 1.000 0.525 0.478 912 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . PXDNL 163 0 220 28 0.112903225806452 TRUE TRUE +ENSG00000187955.12 . BCM GRCh38.p13 chr8 120197915 120197915 + G G T Nonsense_Mutation SNP ENST00000297848.8 exon7 c.G697T p.G233X exonic ENSG00000187955.12 . stopgain ENSG00000187955.12:ENST00000297848.8:exon7:c.G697T:p.G233X 8q24.12 C3L-01287 . . . . . . . . . 5.6 . . . . D D . . . 0.966 . . . . . . . . . D D . . 7.984 40 0.994 D N 1.225 26.176 1.076 24.592 1.000 0.638 0.574 0.653 0.564 . 5.360 5.360 9.754 1.155 0.618 1.000 1.000 0.988 827 von_Willebrand_factor,_type_A . . . COL14A1 42 0 197 23 0.104545454545455 TRUE TRUE +ENSG00000122729.19 . BCM GRCh38.p13 chr9 32448948 32448948 + T T G Missense_Mutation SNP ENST00000309951.8 exon20 c.T2423G p.L808R exonic ENSG00000122729.19 . nonsynonymous SNV ENSG00000122729.19:ENST00000309951.8:exon20:c.T2423G:p.L808R 9p21.1 C3L-01287 . . . . . . . . . 19.20 D D D D D D H T D 0.988 D D D 0.787 0.937 0.811 1.038 D D D D D D 4.448 32 0.998 D D 1.089 17.038 0.993 18.435 1.000 0.707 0.725 0.725 0.714 . 6.010 6.010 8.017 1.138 0.665 1.000 0.980 0.990 705 Aconitase_A/isopropylmalate_dehydratase_small_subunit,_swivel_domain . . . ACO1 362 0 288 33 0.102803738317757 TRUE TRUE +ENSG00000136928.7 . BCM GRCh38.p13 chr9 98306145 98306153 + GGTGATGGT GGTGATGGT - In_Frame_Del DEL ENST00000259455.4 exon15 c.2197_2205del p.T733_T735del exonic ENSG00000136928.7 . nonframeshift deletion ENSG00000136928.7:ENST00000259455.4:exon15:c.2197_2205del:p.T733_T735del 9q22.33 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABBR2 384 0 242 65 0.211726384364821 TRUE TRUE +ENSG00000167157.11 . BCM GRCh38.p13 chr9 129665919 129665919 + G G T Missense_Mutation SNP ENST00000372469.6 exon1 c.G52T p.G18W exonic ENSG00000167157.11 . nonsynonymous SNV ENSG00000167157.11:ENST00000372469.6:exon1:c.G52T:p.G18W 9q34.11 C3L-01287 . . . . . . . . . 5.20 D D P B U N N D N 0.322 T T D 0.273 0.270 0.873 0.498 D T T T T T 2.517 22.500 0.969 N N -0.458 1.261 -0.464 1.261 1.000 0.598 0.578 0.607 0.639 . 2.160 -0.231 0.424 0.830 0.192 0.005 0.993 0.513 374 . . . . PRRX2 32 0 24 4 0.142857142857143 NA TRUE +ENSG00000148429.14 . BCM GRCh38.p13 chr10 11462445 11462445 + A A T Missense_Mutation SNP ENST00000609104.5 exon15 c.T2483A p.L828Q exonic ENSG00000148429.14 . nonsynonymous SNV ENSG00000148429.14:ENST00000609104.5:exon15:c.T2483A:p.L828Q 10p14 C3L-01287 . . . . . . . . rs562437933 13.20 D D D D D D M T N 0.735 T T T 0.299 0.275 0.378 0.584 T T D D D D 4.064 27.500 0.994 D D 0.664 6.642 0.613 6.395 1.000 0.707 0.725 0.725 0.714 . 5.970 5.970 7.137 1.312 0.756 1.000 0.667 0.151 917 . . . . USP6NL 95 0 82 20 0.196078431372549 TRUE TRUE +ENSG00000165757.9 . BCM GRCh38.p13 chr10 30047545 30047545 + T T G Missense_Mutation SNP ENST00000375377.2 exon2 c.A268C p.T90P exonic ENSG00000165757.9 . nonsynonymous SNV ENSG00000165757.9:ENST00000375377.2:exon2:c.A268C:p.T90P 10p11.23 C3L-01287 . . . . . . . . . 1.20 T T B B N N L T D 0.177 T T T 0.068 0.129 0.048 0.216 T T T T T T 0.128 2.351 0.934 N N -1.154 0.261 -1.307 0.204 0.997 0.707 0.590 0.602 0.714 . 4.940 -7.740 -0.651 1.109 0.609 0.004 0.213 0.129 976 . . . . JCAD 156 0 116 27 0.188811188811189 TRUE TRUE +ENSG00000107736.21 . BCM GRCh38.p13 chr10 71807959 71807959 + C C T Missense_Mutation SNP ENST00000224721.12 exon60 c.C8674T p.R2892W exonic ENSG00000107736.21 . nonsynonymous SNV ENSG00000107736.21:ENST00000224721.12:exon60:c.C8674T:p.R2892W 10q22.1 C3L-01287 . . . . . . . . . 9.20 D D D B N D N T N 0.467 T T D 0.208 0.631 0.837 0.391 T T T T D D 4.169 28.400 0.999 D D 0.257 3.564 0.377 4.197 1.000 0.554 0.588 0.602 0.568 . 5.340 5.340 4.286 1.026 0.599 1.000 0.998 0.985 778 . . . ID=COSV99819181;OCCURENCE=1(large_intestine) CDH23 277 0 230 27 0.105058365758755 TRUE NA +ENSG00000138286.15 . BCM GRCh38.p13 chr10 73230473 73230473 + G G T Missense_Mutation SNP ENST00000242505.11 exon9 c.G1075T p.V359F exonic ENSG00000138286.15 . nonsynonymous SNV ENSG00000138286.15:ENST00000242505.11:exon9:c.G1075T:p.V359F 10q22.2 C3L-01287 . . . . . . . . . 8.20 D D P B D N M T D 0.793 T T T 0.193 0.362 0.214 . T T T T D D 2.507 22.400 0.996 D N 0.064 2.747 0.112 2.783 0.994 0.732 0.744 0.644 0.711 . 6.060 2.130 0.346 0.245 0.676 0.999 1.000 0.997 911 . . . . FAM149B1 58 0 233 36 0.133828996282528 TRUE TRUE +ENSG00000108175.17 . BCM GRCh38.p13 chr10 79216199 79216199 + T T C Missense_Mutation SNP ENST00000334512.10 exon7 c.T205C p.F69L exonic ENSG00000108175.17 . nonsynonymous SNV ENSG00000108175.17:ENST00000334512.10:exon7:c.T205C:p.F69L 10q22.3 C3L-01287 . . . . . . . . . 8.20 T D B B N D L T N 0.914 T T D 0.287 0.390 0.151 0.645 D T T T D D 2.968 23.300 0.993 D D 0.251 3.534 0.327 3.876 1.000 0.732 0.588 0.744 0.714 . 5.300 5.300 7.530 1.071 0.665 1.000 0.977 0.987 945 . . . . ZMIZ1 41 0 37 6 0.13953488372093 NA TRUE +ENSG00000185933.7 . BCM GRCh38.p13 chr10 103455371 103455371 + G G A Missense_Mutation SNP ENST00000329905.6 exon2 c.C932T p.P311L exonic ENSG00000185933.7 . nonsynonymous SNV ENSG00000185933.7:ENST00000329905.6:exon2:c.C932T:p.P311L 10q24.33 C3L-01287 3.363e-05 0 0 0 0 6.116e-05 0 0 rs137891542 12.20 D D D D D D L T D 0.478 T T D 0.517 . 0.398 0.676 T T T T D D 3.368 24.300 0.999 D D 0.646 6.427 0.550 5.647 1.000 0.554 0.547 0.604 0.568 . 4.800 4.800 7.560 1.097 0.586 1.000 0.577 0.336 266 . . . . CALHM1 438 0 298 41 0.12094395280236 TRUE NA +ENSG00000130640.13 . BCM GRCh38.p13 chr10 133289911 133289911 + C C T Missense_Mutation SNP ENST00000368563.6 exon9 c.G1273A p.D425N exonic ENSG00000130640.13 . nonsynonymous SNV ENSG00000130640.13:ENST00000368563.6:exon9:c.G1273A:p.D425N 10q26.3 C3L-01287 4.951e-05 9.623e-05 0 0.0001 0 4.506e-05 0 6.056e-05 rs761200870 11.20 D T D D D D M T D 0.852 T T T 0.324 . 0.618 0.955 T T T T D D 3.663 25.300 0.999 D D 0.867 10.228 0.846 11.622 1.000 0.707 0.702 0.723 0.714 . 5.640 5.640 7.676 0.990 0.599 1.000 0.998 0.993 989 . . . . TUBGCP2 277 1 256 45 0.149501661129568 TRUE NA +ENSG00000181785.2 . BCM GRCh38.p13 chr11 56031013 56031013 + C C T Missense_Mutation SNP ENST00000641320.1 exon2 c.C595T p.L199F exonic ENSG00000181785.2 . nonsynonymous SNV ENSG00000181785.2:ENST00000641320.1:exon2:c.C595T:p.L199F 11q12.1 C3L-01287 . . . . . . . . . 7.20 D D D D U N M T D 0.253 T T T 0.090 0.311 0.416 0.019 T T T T D T 2.725 22.900 0.999 N N 0.371 4.170 0.273 3.566 0.000 0.487 0.574 0.574 0.564 . 5.230 4.320 0.165 0.763 0.558 0.000 0.935 0.933 156 GPCR,_rhodopsin-like,_7TM . . ID=COSV100546397;OCCURENCE=1(prostate) OR5AS1 144 0 272 16 0.0555555555555556 TRUE TRUE +ENSG00000124942.14 . BCM GRCh38.p13 chr11 62533347 62533347 + C C T Missense_Mutation SNP ENST00000378024.9 exon5 c.G1070A p.S357N exonic ENSG00000124942.14 . nonsynonymous SNV ENSG00000124942.14:ENST00000378024.9:exon5:c.G1070A:p.S357N 11q12.3 C3L-01287 . . . . . . . . . 0.19 T T P P N N L T N 0.103 T T T 0.062 0.164 0.099 0.026 T T T T T T 1.102 12.790 0.683 N . -0.709 0.798 -0.856 0.681 0.999 0.707 0.546 0.602 0.714 . 5.140 -3.590 -0.302 -0.214 0.599 0.000 0.152 0.856 272 . . . . AHNAK 19 0 19 4 0.173913043478261 TRUE TRUE +ENSG00000186642.16 . BCM GRCh38.p13 chr11 72584916 72584916 + C C G Missense_Mutation SNP ENST00000334456.10 exon17 c.G1315C p.E439Q exonic ENSG00000186642.16 . nonsynonymous SNV ENSG00000186642.16:ENST00000334456.10:exon17:c.G1315C:p.E439Q 11q13.4 C3L-01287 . . . . . . . . . 9.20 D D B B N D M T N 0.481 T T T 0.310 0.514 0.821 1.630 T T D T D D 3.388 24.400 0.996 D D 0.330 3.938 0.418 4.491 1.000 0.646 0.596 0.641 0.700 . 4.970 4.970 5.583 1.022 0.596 1.000 0.997 0.996 394 GAF_domain . . . PDE2A 338 1 218 16 0.0683760683760684 TRUE TRUE +ENSG00000067798.16 . BCM GRCh38.p13 chr12 78006579 78006579 + G G T Missense_Mutation SNP ENST00000397909.7 exon8 c.G1041T p.M347I exonic ENSG00000067798.16 . nonsynonymous SNV ENSG00000067798.16:ENST00000397909.7:exon8:c.G1041T:p.M347I 12q21.2 C3L-01287 . . . . . . . . . 8.20 D T D P U D M T N 0.754 T T T 0.157 0.328 0.202 0.638 T T T T D D 3.395 24.400 0.996 D D 0.356 4.084 0.448 4.716 1.000 0.707 0.574 0.618 0.714 . 5.610 5.610 7.955 1.176 0.676 1.000 0.967 0.847 946 . . . . NAV3 356 1 426 27 0.0596026490066225 TRUE TRUE +ENSG00000188596.11 . BCM GRCh38.p13 chr12 96744102 96744102 + A A G Missense_Mutation SNP ENST00000524981.9 exon55 c.A7640G p.Y2547C exonic ENSG00000188596.11 . nonsynonymous SNV ENSG00000188596.11:ENST00000524981.9:exon55:c.A7640G:p.Y2547C 12q23.1 C3L-01287 0.0007 9.915e-05 0 0 0 0.0013 0 6.241e-05 rs148477724 7.15 D D . . D D . . D 0.646 T T T 0.264 . 0.199 0.042 . T T D T T 3.777 25.700 0.997 D N 0.461 4.747 0.411 4.435 0.657 0.653 0.588 0.574 0.669 . 5.410 4.270 1.967 1.312 0.756 1.000 0.997 0.968 613 . . . . CFAP54 12 1 36 36 0.5 TRUE NA +ENSG00000132950.19 . BCM GRCh38.p13 chr13 19838951 19838951 + A A T Missense_Mutation SNP ENST00000337963.9 exon5 c.T621A p.S207R exonic ENSG00000132950.19 . nonsynonymous SNV ENSG00000132950.19:ENST00000337963.9:exon5:c.T621A:p.S207R 13q12.11 C3L-01287 . . . . . . . . . 2.20 T T B B N D N T N 0.206 T T T 0.150 0.172 0.014 0.018 T T T T T T 1.833 17.980 0.843 D N -0.790 0.669 -0.470 1.252 1.000 0.707 0.725 0.651 0.714 . 4.670 3.400 0.887 1.307 0.751 1.000 1.000 0.987 917 . . . . ZMYM5 96 0 231 39 0.144444444444444 TRUE TRUE +ENSG00000132972.19 . BCM GRCh38.p13 chr13 24800396 24800396 + C C A Missense_Mutation SNP ENST00000255324.10 exon13 c.C1620A p.H540Q exonic ENSG00000132972.19 . nonsynonymous SNV ENSG00000132972.19:ENST00000255324.10:exon13:c.C1620A:p.H540Q 13q12.12 C3L-01287 . . . . . . . . . 1.20 T T B B N N M T N 0.127 T T T 0.047 0.402 0.068 0.733 T T T T T T -0.192 0.531 0.575 N N -0.988 0.417 -1.054 0.424 0.001 0.487 0.590 0.574 0.530 . 4.440 0.896 -0.222 -0.217 -0.193 0.003 0.014 0.015 922 . . . . RNF17 13 0 97 14 0.126126126126126 TRUE TRUE +ENSG00000165804.16 . BCM GRCh38.p13 chr14 21092572 21092573 + GA GA - Frame_Shift_Del DEL ENST00000360947.8 exon3 c.724_725del p.V243Pfs*12 exonic ENSG00000165804.16 . frameshift deletion ENSG00000165804.16:ENST00000360947.8:exon3:c.724_725del:p.V243Pfs*12 14q11.2 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF219 281 0 137 11 0.0743243243243243 TRUE TRUE +ENSG00000165548.11 . BCM GRCh38.p13 chr14 77248403 77248403 + C C A Missense_Mutation SNP ENST00000298351.5 exon19 c.C1658A p.A553D exonic ENSG00000165548.11 . nonsynonymous SNV ENSG00000165548.11:ENST00000298351.5:exon19:c.C1658A:p.A553D 14q24.3 C3L-01287 . . . . . . . . . 14.20 D D D D D D M T D 0.829 T T D 0.347 0.736 0.103 1.211 T T D T D D 3.487 24.700 0.998 D D 0.467 4.791 0.337 3.940 1.000 0.615 0.590 0.659 0.564 . 5.290 4.380 5.022 1.026 0.599 1.000 0.887 0.149 713 Calcium-dependent_channel,_7TM_region,_putative_phosphate . . . TMEM63C 189 0 135 16 0.105960264900662 TRUE TRUE +ENSG00000162104.10 . BCM GRCh38.p13 chr16 3966220 3966220 + A A G Missense_Mutation SNP ENST00000294016.8 exon11 c.T3617C p.I1206T exonic ENSG00000162104.10 . nonsynonymous SNV ENSG00000162104.10:ENST00000294016.8:exon11:c.T3617C:p.I1206T 16p13.3 C3L-01287 . . . . . . . . . 20.20 D D D D D D M D D 0.898 D D D 0.939 0.909 0.963 1.280 D D D D D D 3.649 25.200 0.998 D D 0.986 13.489 0.927 14.965 1.000 0.706 0.588 0.710 0.613 . 5.670 5.670 9.246 1.312 0.756 1.000 1.000 0.999 819 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . ADCY9 321 0 282 52 0.155688622754491 TRUE TRUE +ENSG00000166589.13 . BCM GRCh38.p13 chr16 66917658 66917658 + G G C Missense_Mutation SNP ENST00000299752.9 exon3 c.C113G p.P38R exonic ENSG00000166589.13 . nonsynonymous SNV ENSG00000166589.13:ENST00000299752.9:exon3:c.C113G:p.P38R 16q22.1 C3L-01287 9.487e-06 0 0.0001 0 0 0 0 0 rs751244459 14.20 D D D D D D N T D 0.876 T T D 0.533 0.522 0.913 0.414 T T D D D D 4.017 27.100 0.998 D D 0.740 7.725 0.678 7.366 1.000 0.497 0.590 0.547 0.542 . 4.950 4.950 6.414 1.176 0.676 1.000 0.989 0.984 110 . . . . CDH16 281 0 207 34 0.141078838174274 TRUE NA +ENSG00000065427.14 . BCM GRCh38.p13 chr16 75629413 75629418 + ACCTTG ACCTTG - Frame_Shift_Del DEL ENST00000302445.7 exon12 c.1548_1551del p.K517Pfs*12 exonic ENSG00000065427.14 . frameshift deletion ENSG00000065427.14:ENST00000302445.7:exon12:c.1548_1551del:p.K517Pfs*12 16q23.1 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KARS1 630 0 450 118 0.207746478873239 TRUE TRUE +ENSG00000184560.8 . BCM GRCh38.p13 chr17 7427485 7427485 + G G C Missense_Mutation SNP ENST00000333870.8 exon3 c.G1494C p.E498D exonic ENSG00000184560.8 . nonsynonymous SNV ENSG00000184560.8:ENST00000333870.8:exon3:c.G1494C:p.E498D 17p13.1 C3L-01287 . . . . . . . . . 2.16 T T B B . D . T N 0.120 T T T 0.066 0.073 0.048 0.160 . T T T T . 2.158 20.500 0.984 D N -0.416 1.348 -0.270 1.627 0.880 0.581 0.547 0.576 0.563 . 4.250 4.250 2.019 1.176 0.618 1.000 0.574 0.032 285 . . . . SPEM2 42 0 24 7 0.225806451612903 TRUE TRUE +ENSG00000125686.12 . BCM GRCh38.p13 chr17 39415123 39415123 + - NA CA Frame_Shift_Ins INS ENST00000300651.11 exon16 c.1401_1402insTG p.D468Wfs*9 exonic ENSG00000125686.12 . frameshift insertion ENSG00000125686.12:ENST00000300651.11:exon16:c.1401_1402insTG:p.D468Wfs*9 17q12 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MED1 NA NA NA NA NA NA NA +ENSG00000131738.11 . BCM GRCh38.p13 chr17 41369718 41369718 + G G C Missense_Mutation SNP ENST00000251646.8 exon1 c.C33G p.S11R exonic ENSG00000131738.11 . nonsynonymous SNV ENSG00000131738.11:ENST00000251646.8:exon1:c.C33G:p.S11R 17q21.2 C3L-01287 . . . . . . . . . 7.19 T T D D D N L D N 0.698 T T D 0.424 0.311 0.601 0.457 T T T T D . 2.832 23.100 0.997 D N 0.289 3.723 0.274 3.568 0.014 0.497 0.590 0.547 0.542 . 4.440 3.470 3.134 1.176 0.596 1.000 1.000 0.981 158 . . . . KRT33B 213 0 197 18 0.0837209302325581 NA TRUE +ENSG00000141756.19 . BCM GRCh38.p13 chr17 41819248 41819248 + G G A Missense_Mutation SNP ENST00000321562.9 exon5 c.G766A p.V256I exonic ENSG00000141756.19 . nonsynonymous SNV ENSG00000141756.19:ENST00000321562.9:exon5:c.G766A:p.V256I 17q21.2 C3L-01287 1.648e-05 0 0 0 0 2.999e-05 0 0 rs782380098 4.20 T T B B N D L D N 0.150 T T T 0.263 0.640 0.497 0.239 T T T T T T 1.560 16.120 0.969 D D -0.692 0.827 -0.557 1.112 1.000 0.731 0.682 0.750 0.714 . 5.550 4.580 4.819 0.229 -0.104 1.000 0.013 0.008 549 FKBP-type_peptidyl-prolyl_cis-trans_isomerase_domain . . . FKBP10 403 0 440 49 0.100204498977505 TRUE NA +ENSG00000030582.18 . BCM GRCh38.p13 chr17 44349749 44349749 + C C A Nonsense_Mutation SNP ENST00000053867.8 exon4 c.C347A p.S116X exonic ENSG00000030582.18 . stopgain ENSG00000030582.18:ENST00000053867.8:exon4:c.C347A:p.S116X 17q21.31 C3L-01287 . . . . . . . . . 4.7 . . . . N A . . . 0.876 . . . . . . . . . D D D . 5.310 33 0.992 N N 0.095 2.868 -0.209 1.765 1.000 0.706 0.672 0.710 0.714 . 4.110 1.880 -0.123 1.022 0.594 0.000 0.109 0.020 501 . . . . GRN 173 0 160 33 0.170984455958549 TRUE TRUE +ENSG00000006283.18 . BCM GRCh38.p13 chr17 50578473 50578473 + G G A Missense_Mutation SNP ENST00000359106.10 exon9 c.G2210A p.R737Q exonic ENSG00000006283.18 . nonsynonymous SNV ENSG00000006283.18:ENST00000359106.10:exon9:c.G2210A:p.R737Q 17q21.33 C3L-01287 0.0002 0.0015 0.0010 0 0 0 0.0012 0 rs537429256 9.20 T T B B N D L D N 0.405 D D D 0.353 . 0.872 0.083 T D T T T D 2.287 21.500 0.999 D D -0.124 2.101 0.008 2.386 1.000 0.646 0.563 0.645 0.542 . 4.980 4.010 2.028 0.226 -0.108 1.000 0.999 0.989 940 . . . ID=COSV61725698;OCCURENCE=1(large_intestine),1(stomach),1(upper_aerodigestive_tract) CACNA1G 61 0 60 4 0.0625 TRUE NA +ENSG00000125652.8 . BCM GRCh38.p13 chr19 6374534 6374534 + G G A Missense_Mutation SNP ENST00000245812.8 exon3 c.G448A p.E150K exonic ENSG00000125652.8 . nonsynonymous SNV ENSG00000125652.8:ENST00000245812.8:exon3:c.G448A:p.E150K 19p13.3 C3L-01287 . . . . . . . . . 1.20 T T B B N N N T N 0.143 T T T 0.023 0.398 0.407 0.371 T T T T T T 1.755 17.410 0.991 D N -0.454 1.269 -0.275 1.617 1.000 0.507 0.644 0.658 0.563 . 5.260 3.120 1.099 0.218 -0.118 0.997 0.821 0.653 748 Alpha-ketoglutarate-dependent_dioxygenase_AlkB-like . . . ALKBH7 254 0 105 34 0.244604316546763 TRUE TRUE +ENSG00000167625.11 . BCM GRCh38.p13 chr19 42226009 42226009 + C C T Missense_Mutation SNP ENST00000301215.8 exon3 c.C1606T p.R536C exonic ENSG00000167625.11 . nonsynonymous SNV ENSG00000167625.11:ENST00000301215.8:exon3:c.C1606T:p.R536C 19q13.2 C3L-01287 6.62e-05 0 0 0 0 0.0001 0 0 rs147052277 2.20 T T B B N D L T N 0.475 T T T 0.056 . 0.347 1.221 D T T T T T 2.248 21.200 0.999 N N -0.412 1.357 -0.368 1.430 0.787 0.707 0.702 0.725 0.636 . 4.760 1.280 -1.115 1.026 0.599 0.002 1.000 0.999 774 Zinc_finger_C2H2-type . . . ZNF526 1096 0 614 36 0.0553846153846154 TRUE NA +ENSG00000088305.18 . BCM GRCh38.p13 chr20 32788860 32788860 + A A G Missense_Mutation SNP ENST00000328111.6 exon7 c.A661G p.K221E exonic ENSG00000088305.18 . nonsynonymous SNV ENSG00000088305.18:ENST00000328111.6:exon7:c.A661G:p.K221E 20q11.21 C3L-01287 . . . . . . . . . 12.20 D T D D D D M T D 0.741 T T D 0.457 0.342 0.679 0.300 T T D T D D 4.169 28.400 0.998 D N 0.499 5.031 0.505 5.205 0.987 0.672 0.588 0.702 0.636 . 5.610 4.470 3.223 1.312 0.756 0.993 0.996 0.968 310 . . . . DNMT3B 216 6 192 19 0.0900473933649289 TRUE NA +ENSG00000080189.15 . BCM GRCh38.p13 chr20 46357771 46357771 + G G T Missense_Mutation SNP ENST00000372230.10 exon3 c.C123A p.S41R exonic ENSG00000080189.15 . nonsynonymous SNV ENSG00000080189.15:ENST00000372230.10:exon3:c.C123A:p.S41R 20q13.12 C3L-01287 . . . . . . . . rs1051045217 6.20 T T B B D D L D N 0.503 T T D 0.333 0.295 0.621 0.360 T T T T T D 2.163 20.600 0.968 D N -0.334 1.532 -0.167 1.866 1.000 0.722 0.699 0.644 0.714 . 5.020 2.940 1.831 1.166 0.665 1.000 1.000 0.998 906 Sugar_phosphate_transporter_domain . . . SLC35C2 127 0 109 6 0.0521739130434783 TRUE NA +ENSG00000101096.20 . BCM GRCh38.p13 chr20 51524072 51524072 + C C A Nonsense_Mutation SNP ENST00000396009.7 exon2 c.G169T p.G57X exonic ENSG00000101096.20 . stopgain ENSG00000101096.20:ENST00000396009.7:exon2:c.G169T:p.G57X 20q13.2 C3L-01287 . . . . . . . . . 4.5 . . . . N A . . . 0.897 . . . . . . . . . D D . . 7.468 38 0.992 D . 0.904 11.146 0.735 8.463 1.000 0.615 0.654 0.578 0.655 . 5.280 4.310 5.862 1.026 0.549 1.000 1.000 0.998 972 . . . . NFATC2 28 0 17 3 0.15 TRUE TRUE +ENSG00000183778.17 . BCM GRCh38.p13 chr21 39661428 39661428 + G G T Missense_Mutation SNP ENST00000380620.8 exon5 c.G869T p.R290L exonic ENSG00000183778.17 . nonsynonymous SNV ENSG00000183778.17:ENST00000380620.8:exon5:c.G869T:p.R290L 21q22.2 C3L-01287 . . . . . . . . . 0.20 T T B B N N N T N 0.106 T T T 0.053 0.458 0.198 0.287 T T T T T T 0.156 2.640 0.919 N N -1.223 0.211 -1.279 0.223 1.000 0.563 0.574 0.609 0.564 . 5.510 -2.430 -0.013 -3.163 -0.622 0.000 0.000 0.000 782 . . . . B3GALT5 37 0 16 7 0.304347826086957 TRUE TRUE +ENSG00000174016.11 . BCM GRCh38.p13 chrX 80442783 80442783 + G G T Missense_Mutation SNP ENST00000538312.5 exon5 c.G244T p.D82Y exonic ENSG00000174016.11 . nonsynonymous SNV ENSG00000174016.11:ENST00000538312.5:exon5:c.G244T:p.D82Y Xq21.1 C3L-01287 . . . . . . . . . 13.18 D D D D D D . T D 0.977 T T D 0.715 0.895 0.870 1.232 T T D D D D 3.273 24.000 0.993 D . . . . . 1.000 . . . . . 4.380 4.380 9.603 1.106 0.618 1.000 0.951 0.639 556 . . . . TENT5D 28 0 161 25 0.134408602150538 TRUE TRUE +ENSG00000196440.11 . BCM GRCh38.p13 chrX 101492087 101492087 + G G A Nonsense_Mutation SNP ENST00000423738.4 exon2 c.G3498A p.W1166X exonic ENSG00000196440.11 . stopgain ENSG00000196440.11:ENST00000423738.4:exon2:c.G3498A:p.W1166X Xq22.1 C3L-01287 . . . . . . . . . 4.4 . . . . . D . . . 0.113 . . . . . . . . . D D . . 6.234 35 0.997 D . . . . . 1.000 . . . . . 2.930 2.930 0.748 1.162 0.658 0.055 0.989 0.980 124 . . . . ARMCX4 43 0 47 3 0.06 TRUE NA +ENSG00000077274.9 . BCM GRCh38.p13 chrX 111246755 111246755 + C C A Missense_Mutation SNP ENST00000324068.2 exon13 c.G1748T p.W583L exonic ENSG00000077274.9 . nonsynonymous SNV ENSG00000077274.9:ENST00000324068.2:exon13:c.G1748T:p.W583L Xq23 C3L-01287 . . . . . . . . . 14.19 D D D D N D M T D 0.557 D D D 0.627 0.846 0.764 1.645 T T D D D T 3.868 26.200 0.986 D . . . . . 0.532 . . . . . 5.240 5.240 3.964 1.014 0.585 1.000 0.999 0.979 843 C2_domain;Calpain_C2_domain . . . CAPN6 52 0 52 3 0.0545454545454545 TRUE NA +ENSG00000102021.11 . BCM GRCh38.p13 chrX 115306466 115306466 + G G C Missense_Mutation SNP ENST00000371920.4 exon4 c.G604C p.E202Q exonic ENSG00000102021.11 . nonsynonymous SNV ENSG00000102021.11:ENST00000371920.4:exon4:c.G604C:p.E202Q Xq23 C3L-01287 . . . . . . . . . 5.19 D T D P N N N D N 0.234 T D D 0.201 0.233 0.628 0.129 T T T T T T 1.046 12.190 0.976 N . . . . . 0.944 . . . . . 3.170 1.280 -0.048 0.118 0.618 0.000 0.168 0.115 877 . . . . LUZP4 49 0 170 20 0.105263157894737 TRUE TRUE +ENSG00000009694.13 . BCM GRCh38.p13 chrX 124453453 124453453 + C C G Missense_Mutation SNP ENST00000371130.7 exon22 c.G3967C p.D1323H exonic ENSG00000009694.13 . nonsynonymous SNV ENSG00000009694.13:ENST00000371130.7:exon22:c.G3967C:p.D1323H Xq25 C3L-01287 . . . . . . . . . 19.19 D D D D D D H D D 0.932 D D D 0.943 0.846 0.978 1.484 D D D D D D 3.830 26.000 0.996 D . . . . . 1.000 . . . . . 5.970 5.970 7.869 1.026 0.599 1.000 1.000 1.000 974 . . . . TENM1 48 0 82 9 0.0989010989010989 TRUE TRUE +ENSG00000132849.20 . BCM GRCh38.p13 chr1 61864634 61864634 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000132849.20 ENST00000371158.6:exon20:c.2835+1G>A . . 1p31.3 C3L-01287 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 3.954 26.700 0.993 D . 0.896 10.938 0.669 7.217 0.999 0.162 0.187 0.084 0.057 0.958 4.230 4.230 5.308 1.176 0.676 1.000 0.327 0.096 821 . . . . PATJ 62 0 55 6 0.0983606557377049 TRUE TRUE +ENSG00000143486.16 . BCM GRCh38.p13 chr1 206600261 206600261 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000143486.16 ENST00000271764.7:exon8:c.948+2T>C . . 1q32.1 C3L-01287 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.518 32 0.985 D . 1.031 14.935 0.869 12.492 0.992 0.295 0.304 0.232 0.118 0.886 5.860 4.540 6.396 1.312 0.756 1.000 0.995 0.895 646 . . . . EIF2D 83 0 80 21 0.207920792079208 TRUE TRUE +ENSG00000153048.11 . BCM GRCh38.p13 chr16 8859170 8859170 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000153048.11 ENST00000311052.10:exon2:c.158+1G>A . . 16p13.2 C3L-01287 3.621e-05 0 0 0 0 6.542e-05 0 0 rs759244031 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.211 33 0.995 D . 1.143 19.615 0.993 18.393 1.000 0.257 0.272 0.320 0.196 0.985 5.350 5.350 7.604 1.026 0.599 1.000 0.998 0.939 917 . . . . CARHSP1 72 0 61 4 0.0615384615384615 TRUE NA +ENSG00000134250.20 . BCM GRCh38.p13 chr1 119915813 119915813 + G G A Silent SNP ENST00000256646.7 exon34 c.C6909T p.P2303P exonic ENSG00000134250.20 . synonymous SNV ENSG00000134250.20:ENST00000256646.7:exon34:c.C6909T:p.P2303P 1p12 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOTCH2 92 0 69 25 0.265957446808511 TRUE NA +ENSG00000198842.10 . BCM GRCh38.p13 chr1 167126433 167126433 + G G T Silent SNP ENST00000361200.7 exon6 c.G1302T p.L434L exonic ENSG00000198842.10 . synonymous SNV ENSG00000198842.10:ENST00000361200.7:exon6:c.G1302T:p.L434L 1q24.1 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP27 109 0 85 10 0.105263157894737 TRUE TRUE +ENSG00000204406.13 . BCM GRCh38.p13 chr2 148490084 148490084 + A A G Silent SNP ENST00000407073.5 exon12 c.A3753G p.P1251P exonic ENSG00000204406.13 . synonymous SNV ENSG00000204406.13:ENST00000407073.5:exon12:c.A3753G:p.P1251P 2q23.1 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MBD5 170 1 282 42 0.12962962962963 TRUE TRUE +ENSG00000163520.14 . BCM GRCh38.p13 chr3 13629282 13629282 + G G A Silent SNP ENST00000295760.11 exon12 c.G2691A p.R897R exonic ENSG00000163520.14 . synonymous SNV ENSG00000163520.14:ENST00000295760.11:exon12:c.G2691A:p.R897R 3p25.1 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBLN2 111 0 75 8 0.0963855421686747 TRUE NA +ENSG00000113205.5 . BCM GRCh38.p13 chr5 141101996 141101996 + C C T Silent SNP ENST00000231130.3 exon1 c.C1347T p.P449P exonic ENSG00000113205.5 . synonymous SNV ENSG00000113205.5:ENST00000231130.3:exon1:c.C1347T:p.P449P 5q31.3 C3L-01287 8.251e-06 0 0 0 0 1.501e-05 0 0 rs782743177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50574942;OCCURENCE=1(endometrium) PCDHB3 803 0 756 145 0.160932297447281 NA TRUE +ENSG00000204713.11 . BCM GRCh38.p13 chr6 28904514 28904514 + G G A Silent SNP ENST00000377199.4 exon8 c.C1098T p.F366F exonic ENSG00000204713.11 . synonymous SNV ENSG00000204713.11:ENST00000377199.4:exon8:c.C1098T:p.F366F 6p22.1 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65874203;OCCURENCE=1(urinary_tract) TRIM27 253 1 229 47 0.170289855072464 TRUE TRUE +ENSG00000164597.13 . BCM GRCh38.p13 chr7 107230620 107230620 + T T A Silent SNP ENST00000347053.7 exon18 c.A2193T p.S731S exonic ENSG00000164597.13 . synonymous SNV ENSG00000164597.13:ENST00000347053.7:exon18:c.A2193T:p.S731S 7q22.3 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COG5 59 0 358 50 0.122549019607843 TRUE TRUE +ENSG00000106278.12 . BCM GRCh38.p13 chr7 122010651 122010651 + A A C Silent SNP ENST00000393386.7 exon12 c.A1605C p.S535S exonic ENSG00000106278.12 . synonymous SNV ENSG00000106278.12:ENST00000393386.7:exon12:c.A1605C:p.S535S 7q31.32 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRZ1 54 0 242 41 0.144876325088339 TRUE TRUE +ENSG00000197181.12 . BCM GRCh38.p13 chr8 22315041 22315041 + C C A Silent SNP ENST00000356766.11 exon18 c.C2104A p.R702R exonic ENSG00000197181.12 . synonymous SNV ENSG00000197181.12:ENST00000356766.11:exon18:c.C2104A:p.R702R 8p21.3 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIWIL2 89 0 106 13 0.109243697478992 TRUE TRUE +ENSG00000117983.17 . BCM GRCh38.p13 chr11 1243900 1243900 + C C T Silent SNP ENST00000529681.5 exon31 c.C7020T p.T2340T exonic ENSG00000117983.17 . synonymous SNV ENSG00000117983.17:ENST00000529681.5:exon31:c.C7020T:p.T2340T 11p15.5 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5B 360 0 298 31 0.0942249240121581 NA TRUE +ENSG00000130595.19 . BCM GRCh38.p13 chr11 1934859 1934859 + G G A Silent SNP ENST00000397301.5 exon15 c.G654A p.L218L exonic ENSG00000130595.19 . synonymous SNV ENSG00000130595.19:ENST00000397301.5:exon15:c.G654A:p.L218L 11p15.5 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNNT3 661 1 670 74 0.0994623655913978 TRUE TRUE +ENSG00000174791.11 . BCM GRCh38.p13 chr11 66335675 66335675 + G G A Silent SNP ENST00000311320.9 exon4 c.C390T p.S130S exonic ENSG00000174791.11 . synonymous SNV ENSG00000174791.11:ENST00000311320.9:exon4:c.C390T:p.S130S 11q13.2 C3L-01287 . . . . . . . . . 1.7 . . . . . D . . . 0.126 . . . . . 0.643 . . T T T . T 0.923 10.680 0.816 N N . . . . 1.000 0.658 0.187 0.619 0.562 . 4.330 -1.440 -0.712 0.245 0.676 0.000 0.889 0.818 63 . . . . RIN1 314 0 290 50 0.147058823529412 TRUE TRUE +ENSG00000073614.13 . BCM GRCh38.p13 chr12 323650 323650 + G G C Silent SNP ENST00000399788.7 exon15 c.C2100G p.L700L exonic ENSG00000073614.13 . synonymous SNV ENSG00000073614.13:ENST00000399788.7:exon15:c.C2100G:p.L700L 12p13.33 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5A 200 0 336 71 0.174447174447174 TRUE TRUE +ENSG00000089094.19 . BCM GRCh38.p13 chr12 121509651 121509651 + C C T Silent SNP ENST00000377071.9 exon11 c.G1563A p.V521V exonic ENSG00000089094.19 . synonymous SNV ENSG00000089094.19:ENST00000377071.9:exon11:c.G1563A:p.V521V 12q24.31 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM2B 400 0 425 56 0.116424116424116 TRUE TRUE +ENSG00000167178.16 . BCM GRCh38.p13 chr15 74134941 74134941 + G G A Silent SNP ENST00000453268.3 exon3 c.G2187A p.A729A exonic ENSG00000167178.16 . synonymous SNV ENSG00000167178.16:ENST00000453268.3:exon3:c.G2187A:p.A729A 15q24.1 C3L-01287 8.337e-06 0 0 0 0 0 0.0011 0 rs754766833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62302045;OCCURENCE=1(thyroid) ISLR2 198 0 184 13 0.065989847715736 TRUE TRUE +ENSG00000167207.13 . BCM GRCh38.p13 chr16 50699795 50699795 + G G A Silent SNP ENST00000300589.6 exon2 c.G381A p.S127S exonic ENSG00000167207.13 . synonymous SNV ENSG00000167207.13:ENST00000300589.6:exon2:c.G381A:p.S127S 16q12.1 C3L-01287 2.493e-05 0 0 0.0002 0 1.514e-05 0 0 rs535978538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOD2 235 0 194 37 0.16017316017316 TRUE NA +ENSG00000173821.19 . BCM GRCh38.p13 chr17 80348127 80348127 + C C T Silent SNP ENST00000508628.6 exon30 c.C9939T p.P3313P exonic ENSG00000173821.19 . synonymous SNV ENSG00000173821.19:ENST00000508628.6:exon30:c.C9939T:p.P3313P 17q25.3 C3L-01287 8.257e-06 9.641e-05 0 0 0 0 0 0 rs760817075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF213 662 0 397 121 0.233590733590734 TRUE NA +ENSG00000100068.13 . BCM GRCh38.p13 chr22 25359892 25359892 + G G A Silent SNP ENST00000610821.4 exon1 c.C201T p.S67S exonic ENSG00000100068.13 . synonymous SNV ENSG00000100068.13:ENST00000610821.4:exon1:c.C201T:p.S67S 22q11.23 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP5L 437 0 318 68 0.176165803108808 TRUE TRUE +ENSG00000239282.8 . BCM GRCh38.p13 chr22 30287204 30287204 + C C A Silent SNP ENST00000407689.8 exon4 c.G456T p.V152V exonic ENSG00000239282.8;ENSG00000248751.6 . synonymous SNV ENSG00000239282.8:ENST00000407689.8:exon4:c.G456T:p.V152V,ENSG00000248751.6:ENST00000434291.5:exon9:c.G1023T:p.V341V 22q12.2 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASTOR1 57 0 55 3 0.0517241379310345 TRUE NA +ENSG00000187066.8 . BCM GRCh38.p13 chr11 65090494 65090494 + T T G IGR SNP NA NA NA NA intergenic ENSG00000187066.8;ENSG00000149823.9 dist=1403;dist=5720 . . 11q13.1 C3L-01287 . . . . . . . . . 1.11 D . . . . . . . N . T T . 0.052 0.112 0.095 . . T T T T T -0.174 0.580 0.445 N N -0.745 0.739 -0.997 0.492 0.003 0.421 0.380 0.537 0.714 . 0.158 0.158 -0.232 0.275 0.245 0.001 0.021 0.027 349 . . . . TMEM262 58 0 96 16 0.142857142857143 TRUE TRUE +ENSG00000207233.1 . BCM GRCh38.p13 chr18 54222402 54222402 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207233.1 . . . 18q21.2 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORA37 87 0 83 26 0.238532110091743 TRUE NA +ENSG00000242574.9 . BCM GRCh38.p13 chr6 32938927 32938928 + CC CC AT Unknown MNP ENST00000418107.3 exon2 c.93_94delinsAT p.D32Y exonic ENSG00000242574.9;ENSG00000248993.1 . nonframeshift substitution ENSG00000242574.9:ENST00000418107.3:exon2:c.93_94delinsAT:p.D32Y,ENSG00000248993.1:ENST00000429234.1:exon3:c.189_190delinsAT:p.D64Y 6p21.32 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLA-DMB 75 0 52 21 0.287671232876712 TRUE TRUE +ENSG00000110987.9 . BCM GRCh38.p13 chr12 122030725 122030728 + GACA GACA TAAC Unknown MNP ENST00000261822.5 exon2 c.118_121delinsTAAC p.D40_M210del exonic ENSG00000110987.9 . stopgain ENSG00000110987.9:ENST00000261822.5:exon2:c.118_121delinsTAAC:p.D40_M210del 12q24.31 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCL7A 324 0 332 31 0.0853994490358127 TRUE NA +ENSG00000196557.13 . BCM GRCh38.p13 chr16 1217979 1217980 + GC GC CT Unknown MNP ENST00000348261.11 exon32 c.5384_5385delinsCT p.G1795A exonic ENSG00000196557.13 . nonframeshift substitution ENSG00000196557.13:ENST00000348261.11:exon32:c.5384_5385delinsCT:p.G1795A 16p13.3 C3L-01287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1H 174 0 130 35 0.212121212121212 TRUE NA +ENSG00000248333.8 . BCM GRCh38.p13 chr1 1642350 1642350 + - NA T Frame_Shift_Ins NA ENST00000407249.7 exon7 c.789dupA p.Q264Tfs*41 exonic ENSG00000248333.8 . frameshift insertion ENSG00000248333.8:ENST00000407249.7:exon7:c.789dupA:p.Q264Tfs*41 1p36.33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDK11B NA NA NA NA NA NA NA +ENSG00000117643.14 . BCM GRCh38.p13 chr1 25746767 25746767 + G G C Missense_Mutation SNP ENST00000374332.8 exon3 c.G737C p.S246T exonic ENSG00000117643.14 . nonsynonymous SNV ENSG00000117643.14:ENST00000374332.8:exon3:c.G737C:p.S246T 1p36.11 C3L-01288 . . . . . . . . . 5.20 D T B B D N L T N 0.413 T T D 0.086 0.423 0.666 0.465 T T T T D T 2.540 22.500 0.948 D N -0.237 1.776 -0.169 1.862 0.972 0.706 0.627 0.710 0.586 . 4.930 1.740 1.882 -0.133 -0.108 1.000 0.997 0.992 590 . . . . MAN1C1 169 0 82 39 0.322314049586777 TRUE TRUE +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39448125 39448128 + AATT AATT - Frame_Shift_Del DEL ENST00000372915.7 exon82 c.19758_19761del p.I6587Nfs*31 exonic ENSG00000127603.29 . frameshift deletion ENSG00000127603.29:ENST00000372915.7:exon82:c.19758_19761del:p.I6587Nfs*31 1p34.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MACF1 20 0 100 32 0.242424242424242 TRUE TRUE +ENSG00000162373.13 . BCM GRCh38.p13 chr1 48776780 48776788 + CGGGCAGCG CGGGCAGCG - In_Frame_Del DEL ENST00000371833.4 exon1 c.44_52del p.A15_P17del exonic ENSG00000162373.13 . nonframeshift deletion ENSG00000162373.13:ENST00000371833.4:exon1:c.44_52del:p.A15_P17del 1p33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BEND5 383 0 165 28 0.145077720207254 TRUE TRUE +ENSG00000143536.7 . BCM GRCh38.p13 chr1 152410919 152410919 + C C T Missense_Mutation SNP ENST00000271835.3 exon3 c.G163A p.D55N exonic ENSG00000143536.7 . nonsynonymous SNV ENSG00000143536.7:ENST00000271835.3:exon3:c.G163A:p.D55N 1q21.3 C3L-01288 . . . . . . . . . 8.20 D D D D N N M T D 0.322 T T T 0.161 0.657 0.382 0.386 T T T T D T 3.157 23.800 0.999 D N 0.441 4.610 0.288 3.645 0.080 0.487 0.590 0.574 0.564 . 4.730 3.820 1.993 1.026 0.549 1.000 0.986 0.286 679 EF-hand_domain;S-100 . . . CRNN 107 0 64 22 0.255813953488372 TRUE TRUE +ENSG00000132680.11 . BCM GRCh38.p13 chr1 155925702 155925702 + C C A Missense_Mutation SNP ENST00000368321.8 exon7 c.G823T p.G275C exonic ENSG00000132680.11 . nonsynonymous SNV ENSG00000132680.11:ENST00000368321.8:exon7:c.G823T:p.G275C 1q22 C3L-01288 . . . . . . . . . 16.19 D D D D D D . T D 0.919 T T D 0.820 0.865 0.777 1.161 D D D D D D 4.056 27.400 0.997 D D 0.988 13.556 0.937 15.436 1.000 0.672 0.702 0.702 0.711 . 5.820 5.820 7.565 1.026 0.594 1.000 0.989 0.992 75 . . . . KHDC4 510 0 387 133 0.255769230769231 TRUE TRUE +ENSG00000143751.10 . BCM GRCh38.p13 chr1 225988335 225988335 + T T C Missense_Mutation SNP ENST00000272091.8 exon6 c.A695G p.D232G exonic ENSG00000143751.10 . nonsynonymous SNV ENSG00000143751.10:ENST00000272091.8:exon6:c.A695G:p.D232G 1q42.12 C3L-01288 . . . . . . . . . 8.20 D T D P D D L T D 0.448 T T D 0.155 0.138 0.795 0.759 T T T T D T 3.776 25.700 0.998 D N 0.454 4.697 0.394 4.316 1.000 0.719 0.723 0.644 0.714 . 5.870 5.870 3.463 1.138 0.665 0.995 0.205 0.130 754 . . . . SDE2 309 0 220 86 0.281045751633987 TRUE TRUE +ENSG00000143772.9 . BCM GRCh38.p13 chr1 226639650 226639650 + G G T Missense_Mutation SNP ENST00000429204.5 exon6 c.C2460A p.D820E exonic ENSG00000143772.9 . nonsynonymous SNV ENSG00000143772.9:ENST00000429204.5:exon6:c.C2460A:p.D820E 1q42.12 C3L-01288 8.253e-06 0 0 0 0 1.501e-05 0 0 rs112559528 5.20 T T B B D D L T D 0.589 T T D 0.125 0.622 0.587 1.146 T T T T D T 0.390 5.314 0.989 N N -0.694 0.822 -0.724 0.865 0.999 0.707 0.725 0.602 0.636 . 4.350 -2.440 -0.737 -1.178 -0.870 0.025 0.942 0.784 799 . . . . ITPKB 306 0 291 52 0.151603498542274 TRUE TRUE +ENSG00000077585.14 . BCM GRCh38.p13 chr1 236142912 236142912 + C C T Missense_Mutation SNP ENST00000366592.8 exon1 c.C290T p.S97F exonic ENSG00000077585.14 . nonsynonymous SNV ENSG00000077585.14:ENST00000366592.8:exon1:c.C290T:p.S97F 1q42.3 C3L-01288 . . . . . . . . . 15.20 D D D D D D M T D 0.913 T T D 0.608 0.704 0.556 2.171 T T D D D D 4.155 28.200 0.998 D D 0.754 7.947 0.694 7.642 1.000 0.685 0.522 0.674 0.710 . 4.890 4.890 5.925 0.951 0.524 1.000 1.000 0.997 706 . . . . GPR137B 343 0 273 80 0.226628895184136 TRUE TRUE +ENSG00000169016.17 . BCM GRCh38.p13 chr2 11453591 11453591 + A A C Missense_Mutation SNP ENST00000381525.8 exon3 c.T371G p.I124S exonic ENSG00000169016.17 . nonsynonymous SNV ENSG00000169016.17:ENST00000381525.8:exon3:c.T371G:p.I124S 2p25.1 C3L-01288 . . . . . . . . . 19.20 D D D D D D M D D 0.964 D D D 0.951 0.821 0.950 2.310 T D D D D D 4.233 29.000 0.994 D D 0.872 10.361 0.822 10.810 1.000 0.372 0.546 0.447 0.492 . 5.560 5.560 9.211 1.312 0.750 1.000 0.998 0.995 702 E2F/DP_family,_winged-helix_DNA-binding_domain . . . E2F6 233 0 202 67 0.24907063197026 TRUE TRUE +ENSG00000162961.14 . BCM GRCh38.p13 chr2 32029661 32029661 + G G C Missense_Mutation SNP ENST00000342166.10 exon4 c.C160G p.R54G exonic ENSG00000162961.14 . nonsynonymous SNV ENSG00000162961.14:ENST00000342166.10:exon4:c.C160G:p.R54G 2p22.3 C3L-01288 . . . . . . . . . 14.19 D D P P D D . T D 0.938 T T D 0.764 0.879 0.905 2.528 D D D D D D 4.000 27.000 0.998 D D 0.279 3.671 0.293 3.675 0.752 0.732 0.744 0.744 0.646 . 6.080 3.340 6.439 1.163 0.618 1.000 1.000 0.996 398 Dpy-30_motif . . . DPY30 198 0 300 35 0.104477611940299 TRUE TRUE +ENSG00000172023.8 . BCM GRCh38.p13 chr2 79085498 79085498 + A A C Missense_Mutation SNP ENST00000305089.8 exon5 c.T427G p.C143G exonic ENSG00000172023.8 . nonsynonymous SNV ENSG00000172023.8:ENST00000305089.8:exon5:c.T427G:p.C143G 2p12 C3L-01288 . . . . . . . . . 1.20 D T B B N N N T N 0.155 T T T 0.020 0.358 0.076 0.010 T T T T T T 1.157 13.280 0.439 N N -1.809 0.023 -1.734 0.045 0.000 0.487 0.574 0.574 0.564 . 3.880 -1.890 -0.053 -0.620 -1.002 0.000 0.000 0.432 965 C-type_lectin-like;C-type_lectin,_conserved_site . . . REG1B 259 0 204 51 0.2 TRUE TRUE +ENSG00000188886.3 . BCM GRCh38.p13 chr2 96133446 96133446 + - NA T Frame_Shift_Ins NA ENST00000342380.2 exon5 c.433dupA p.I145Nfs*39 exonic ENSG00000188886.3 . frameshift insertion ENSG00000188886.3:ENST00000342380.2:exon5:c.433dupA:p.I145Nfs*39 2q11.2 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASTL NA NA NA NA NA NA NA +ENSG00000144057.15 . BCM GRCh38.p13 chr2 106843367 106843367 + A A G Missense_Mutation SNP ENST00000409382.7 exon2 c.T611C p.L204P exonic ENSG00000144057.15 . nonsynonymous SNV ENSG00000144057.15:ENST00000409382.7:exon2:c.T611C:p.L204P 2q12.3 C3L-01288 . . . . . . . . . 10.20 D T B B N D M T D 0.914 T T D 0.492 0.714 0.370 0.899 T T D D D T 2.766 23.000 0.983 D D 0.009 2.543 0.045 2.519 1.000 0.646 0.574 0.645 0.564 . 5.140 5.140 8.757 1.228 0.658 1.000 0.973 0.717 872 . . . . ST6GAL2 260 0 192 77 0.286245353159851 TRUE TRUE +ENSG00000183840.7 . BCM GRCh38.p13 chr2 132645572 132645572 + C C T Missense_Mutation SNP ENST00000329321.4 exon2 c.C1328T p.A443V exonic ENSG00000183840.7 . nonsynonymous SNV ENSG00000183840.7:ENST00000329321.4:exon2:c.C1328T:p.A443V 2q21.2 C3L-01288 . . . . . . . . . 1.20 D T B B N N L T N 0.036 T T T 0.136 0.101 0.616 0.375 T T T T T T 0.394 5.359 0.951 N N -0.994 0.411 -1.006 0.481 0.186 0.707 0.574 0.616 0.714 . 5.050 2.150 0.014 0.000 -0.188 0.000 0.012 0.027 964 . . . . GPR39 139 0 112 6 0.0508474576271186 TRUE NA +ENSG00000079156.17 . BCM GRCh38.p13 chr2 178391118 178391118 + A A G Missense_Mutation SNP ENST00000190611.9 exon22 c.A2347G p.I783V exonic ENSG00000079156.17 . nonsynonymous SNV ENSG00000079156.17:ENST00000190611.9:exon22:c.A2347G:p.I783V 2q31.2 C3L-01288 . . . . . . . . . 6.20 T T B B D D N T N 0.235 T T T 0.148 0.291 0.068 0.250 T T T T D D 2.430 22.200 0.962 D D -0.465 1.245 -0.265 1.637 0.999 0.615 0.588 0.659 0.655 . 5.060 3.880 9.098 1.312 0.756 1.000 0.904 0.466 279 . . . . OSBPL6 155 0 101 39 0.278571428571429 TRUE TRUE +ENSG00000082146.13 . BCM GRCh38.p13 chr2 201477702 201477702 + A A C Missense_Mutation SNP ENST00000194530.8 exon8 c.A632C p.K211T exonic ENSG00000082146.13 . nonsynonymous SNV ENSG00000082146.13:ENST00000194530.8:exon8:c.A632C:p.K211T 2q33.1 C3L-01288 . . . . . . . . . 7.20 D T P B D D N T N 0.283 T T T 0.093 0.413 0.143 0.833 T T T T D D 2.496 22.400 0.994 D D -0.001 2.506 0.160 2.993 0.069 0.732 0.670 0.744 0.636 . 5.410 5.410 3.710 1.312 0.691 1.000 1.000 0.994 434 Protein_kinase_domain . . . STRADB 242 0 151 42 0.217616580310881 TRUE TRUE +ENSG00000183671.12 . BCM GRCh38.p13 chr2 206177064 206177064 + A A T Missense_Mutation SNP ENST00000612892.4 exon4 c.T184A p.F62I exonic ENSG00000183671.12 . nonsynonymous SNV ENSG00000183671.12:ENST00000612892.4:exon4:c.T184A:p.F62I 2q33.3 C3L-01288 . . . . . . . . . 3.19 T T B B D D N T N 0.316 T T T 0.038 0.451 0.225 0.023 T T T T T . 1.338 14.650 0.736 D N -0.523 1.132 -0.326 1.512 0.837 0.487 0.574 0.547 0.662 . 5.840 3.430 1.988 0.324 0.756 1.000 0.982 0.956 715 GPCR,_rhodopsin-like,_7TM . . . GPR1 193 0 144 56 0.28 TRUE TRUE +ENSG00000163516.14 . BCM GRCh38.p13 chr2 219236363 219236363 + C C G Missense_Mutation SNP ENST00000323348.10 exon14 c.C2099G p.P700R exonic ENSG00000163516.14 . nonsynonymous SNV ENSG00000163516.14:ENST00000323348.10:exon14:c.C2099G:p.P700R 2q35 C3L-01288 . . . . . . . . . 18.20 D D D D D D M D D 0.919 D D D 0.912 0.666 0.983 0.559 T T D D D D 3.801 25.800 0.999 D D 0.925 11.704 0.872 12.584 1.000 0.707 0.725 0.725 0.714 . 5.380 5.380 6.933 1.026 0.594 1.000 1.000 0.994 550 . . . . ANKZF1 200 0 101 48 0.322147651006711 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142068 10142068 + T T A Missense_Mutation SNP ENST00000256474.3 exon1 c.T221A p.V74D exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T221A:p.V74D 3p25.3 C3L-01288 . . . . . . . . . 19.20 D D D D D D M D D 0.867 D D D 0.912 0.644 1.000 1.379 D D D D D D 4.427 31 0.981 D N 0.519 5.183 0.466 4.867 1.000 0.442 0.522 0.522 0.562 . 5.340 4.160 3.420 0.971 0.576 1.000 1.000 0.993 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56544662;OCCURENCE=14(kidney),1(soft_tissue) VHL 514 0 213 190 0.471464019851117 TRUE TRUE +ENSG00000157087.20 . BCM GRCh38.p13 chr3 10401025 10401025 + C C A Missense_Mutation SNP ENST00000360273.7 exon5 c.G709T p.D237Y exonic ENSG00000157087.20 . nonsynonymous SNV ENSG00000157087.20:ENST00000360273.7:exon5:c.G709T:p.D237Y 3p25.3 C3L-01288 . . . . . . . . . 20.20 D D D D D D H D D 0.948 D D D 0.924 0.879 0.943 2.128 D D D D D D 3.988 26.900 0.995 D D 0.932 11.900 0.786 9.731 1.000 0.497 0.590 0.573 0.613 . 5.600 5.600 7.905 1.025 0.599 1.000 0.931 0.969 835 . . . . ATP2B2 264 0 307 21 0.0640243902439024 TRUE TRUE +ENSG00000154767.15 . BCM GRCh38.p13 chr3 14158219 14158219 + G G A Missense_Mutation SNP ENST00000285021.12 exon9 c.C1664T p.P555L exonic ENSG00000154767.15 . nonsynonymous SNV ENSG00000154767.15:ENST00000285021.12:exon9:c.C1664T:p.P555L 3p25.1 C3L-01288 . . . . . . . . . 9.20 T D B B D D M T D 0.376 T T D 0.273 0.629 0.338 0.534 T T T T D T 3.580 25.000 0.826 D D 0.287 3.714 0.366 4.125 1.000 0.707 0.702 0.725 0.711 . 5.800 5.800 9.564 1.075 0.676 1.000 1.000 0.706 789 Rad4/PNGase_transglutaminase-like_fold . . . XPC 382 0 199 204 0.506203473945409 TRUE TRUE +ENSG00000124406.16 . BCM GRCh38.p13 chr4 42656858 42656858 + T T C Missense_Mutation SNP ENST00000381668.9 exon1 c.A16G p.R6G exonic ENSG00000124406.16 . nonsynonymous SNV ENSG00000124406.16:ENST00000381668.9:exon1:c.A16G:p.R6G 4p13 C3L-01288 . . . . . . . . . 5.20 D T B B N D N T D 0.212 T T D 0.140 0.423 0.622 0.632 D T T T T T 3.035 23.500 0.970 N N -0.257 1.723 -0.132 1.959 1.000 0.442 0.522 0.520 0.555 . 4.440 4.440 0.983 1.109 0.609 0.997 0.996 0.997 855 . . . . ATP8A1 81 0 69 25 0.265957446808511 TRUE TRUE +ENSG00000170448.12 . BCM GRCh38.p13 chr4 47890612 47890631 + CCTCTGTGACAGACAGATGG CCTCTGTGACAGACAGATGG - Frame_Shift_Del DEL ENST00000507489.2 exon12 c.1525_1543del p.P509Afs*10 exonic ENSG00000170448.12 . frameshift deletion ENSG00000170448.12:ENST00000507489.2:exon12:c.1525_1543del:p.P509Afs*10 4p12 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFXL1 81 0 178 43 0.194570135746606 TRUE TRUE +ENSG00000132837.15 . BCM GRCh38.p13 chr5 79044525 79044525 + A A C Missense_Mutation SNP ENST00000255189.8 exon6 c.T773G p.M258R exonic ENSG00000132837.15 . nonsynonymous SNV ENSG00000132837.15:ENST00000255189.8:exon6:c.T773G:p.M258R 5q14.1 C3L-01288 . . . . . . . . . 13.20 D D B B D D M T D 0.807 T T D 0.753 0.694 0.620 0.518 T T D D D D 3.152 23.700 0.983 D D 0.127 2.994 0.293 3.676 0.983 0.487 0.574 0.574 0.542 . 5.290 5.290 7.197 1.312 0.756 1.000 0.991 0.988 624 FAD_dependent_oxidoreductase . . . DMGDH 110 0 212 150 0.414364640883978 TRUE TRUE +ENSG00000145715.15 . BCM GRCh38.p13 chr5 87389504 87389504 + A A T Missense_Mutation SNP ENST00000274376.11 exon24 c.A3037T p.S1013C exonic ENSG00000145715.15 . nonsynonymous SNV ENSG00000145715.15:ENST00000274376.11:exon24:c.A3037T:p.S1013C 5q14.3 C3L-01288 . . . . . . . . . 14.20 D D D D D D L T N 0.856 T T D 0.356 0.382 0.696 1.799 D D D T D D 4.259 29.200 0.993 D D 0.827 9.338 0.815 10.590 1.000 0.672 0.702 0.644 0.711 . 5.750 5.750 8.681 1.312 0.691 1.000 1.000 0.995 625 Ras_GTPase-activating_domain . . . RASA1 377 0 427 112 0.207792207792208 TRUE TRUE +ENSG00000198108.4 . BCM GRCh38.p13 chr5 129908224 129908224 + T T C Missense_Mutation SNP ENST00000305031.5 exon2 c.T950C p.F317S exonic ENSG00000198108.4 . nonsynonymous SNV ENSG00000198108.4:ENST00000305031.5:exon2:c.T950C:p.F317S 5q23.3 C3L-01288 . . . . . . . . . 16.20 D D D P N D L D D 0.912 D D D 0.893 0.738 0.923 0.388 D T D D D D 4.357 30 0.999 D D 0.666 6.673 0.621 6.494 1.000 0.638 0.563 0.577 0.668 . 4.330 4.330 7.982 1.138 0.609 1.000 0.998 0.986 573 . . . . CHSY3 428 0 555 72 0.114832535885167 TRUE TRUE +ENSG00000204970.10 . BCM GRCh38.p13 chr5 140788386 140788386 + A A G Missense_Mutation SNP ENST00000504120.4 exon1 c.A2096G p.Y699C exonic ENSG00000204970.10 . nonsynonymous SNV ENSG00000204970.10:ENST00000504120.4:exon1:c.A2096G:p.Y699C 5q31.3 C3L-01288 . . . . . . . . . 11.19 D D D D U D M T D 0.589 T T D 0.286 0.474 0.802 1.133 . D T T D D 3.912 26.400 0.997 N N 0.372 4.173 0.167 3.025 0.324 0.581 0.574 0.576 0.542 . 3.960 2.740 2.052 1.292 0.745 0.708 0.997 0.996 18 . . . . PCDHA1 479 0 355 161 0.312015503875969 TRUE TRUE +ENSG00000204613.11 . BCM GRCh38.p13 chr6 30156968 30156968 + G G - Frame_Shift_Del DEL ENST00000449742.7 exon5 c.866delC p.P289Rfs*6 exonic ENSG00000204613.11 . frameshift deletion ENSG00000204613.11:ENST00000449742.7:exon5:c.866delC:p.P289Rfs*6 6p22.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM10 204 0 129 58 0.310160427807487 TRUE TRUE +ENSG00000044090.10 . BCM GRCh38.p13 chr6 43041022 43041022 + G G C Missense_Mutation SNP ENST00000265348.9 exon20 c.C3699G p.I1233M exonic ENSG00000044090.10 . nonsynonymous SNV ENSG00000044090.10:ENST00000265348.9:exon20:c.C3699G:p.I1233M 6p21.1 C3L-01288 . . . . . . . . . 1.20 T T B B N N N T N 0.213 T T D 0.185 0.407 0.476 0.218 T T T T T T -1.600 0.001 0.721 N N -2.066 0.007 -2.122 0.007 1.000 0.732 0.702 0.744 0.636 . 5.430 -10.900 -3.063 -2.532 -2.298 0.000 0.661 0.526 178 Cullin_homology_domain;Cullin,_N-terminal . . . CUL7 411 0 271 101 0.271505376344086 TRUE TRUE +ENSG00000112773.16 . BCM GRCh38.p13 chr6 81751717 81751717 + A A G Missense_Mutation SNP ENST00000320172.11 exon2 c.T425C p.L142P exonic ENSG00000112773.16 . nonsynonymous SNV ENSG00000112773.16:ENST00000320172.11:exon2:c.T425C:p.L142P 6q14.1 C3L-01288 . . . . . . . . . 15.19 D D D D D D . T D 0.987 T T D 0.642 0.413 0.669 2.586 D T D D D D 4.707 32 0.999 D D 0.614 6.072 0.646 6.849 1.000 0.455 0.542 0.607 0.375 . 5.500 5.500 9.318 1.228 0.658 1.000 1.000 0.999 894 . . . . TENT5A 240 0 180 56 0.23728813559322 TRUE TRUE +ENSG00000130340.16 . BCM GRCh38.p13 chr6 157927205 157927205 + - NA A Frame_Shift_Ins NA ENST00000392185.8 exon11 c.1176dupA p.V393Sfs*19 exonic ENSG00000130340.16 . frameshift insertion ENSG00000130340.16:ENST00000392185.8:exon11:c.1176dupA:p.V393Sfs*19 6q25.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX9 NA NA NA NA NA NA NA +ENSG00000155428.12 . BCM GRCh38.p13 chr7 72959898 72959898 + G G T Missense_Mutation SNP ENST00000285805.3 exon5 c.C737A p.S246Y exonic ENSG00000155428.12 . nonsynonymous SNV ENSG00000155428.12:ENST00000285805.3:exon5:c.C737A:p.S246Y 7q11.23 C3L-01288 . . . . . . . . . 4.19 D D P P N N L T N 0.190 T T T 0.155 . 0.159 . . T T T D T 3.620 25.100 0.993 D N 0.085 2.829 0.027 2.454 0.000 0.638 0.670 0.602 0.621 . 1.790 1.790 2.834 1.064 0.306 0.627 0.957 0.980 472 . . . . TRIM74 153 0 131 7 0.0507246376811594 NA TRUE +ENSG00000106077.18 . BCM GRCh38.p13 chr7 73738401 73738401 + A A - Frame_Shift_Del DEL ENST00000222800.7 exon2 c.215delT p.L72Cfs*27 exonic ENSG00000106077.18 . frameshift deletion ENSG00000106077.18:ENST00000222800.7:exon2:c.215delT:p.L72Cfs*27 7q11.23 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABHD11 146 0 127 38 0.23030303030303 TRUE TRUE +ENSG00000153956.16 . BCM GRCh38.p13 chr7 81964344 81964344 + C C T Missense_Mutation SNP ENST00000356253.9 exon33 c.G2626A p.G876R exonic ENSG00000153956.16 . nonsynonymous SNV ENSG00000153956.16:ENST00000356253.9:exon33:c.G2626A:p.G876R 7q21.11 C3L-01288 . . . . . . . . . 18.20 D D D D D D M T D 0.973 D D D 0.775 . 0.644 1.462 D T D D D D 4.519 32 0.999 D D 0.823 9.257 0.788 9.786 1.000 0.693 0.574 0.653 0.564 . 5.400 5.400 5.473 1.026 0.599 1.000 1.000 0.998 900 Voltage-dependent_calcium_channel,_alpha-2/delta_subunit,_conserved_region . . ID=COSV100667025;OCCURENCE=1(skin) CACNA2D1 131 0 177 11 0.0585106382978723 TRUE TRUE +ENSG00000196367.13 . BCM GRCh38.p13 chr7 98945783 98945783 + C C T Missense_Mutation SNP ENST00000359863.8 exon32 c.C4510T p.P1504S exonic ENSG00000196367.13 . nonsynonymous SNV ENSG00000196367.13:ENST00000359863.8:exon32:c.C4510T:p.P1504S 7q22.1 C3L-01288 . . . . . . . . . 4.20 T D P P N D N T N 0.415 T T T 0.180 0.291 0.524 0.913 T T T T T T 2.910 23.200 0.987 D D 0.551 5.455 0.605 6.291 1.000 0.563 0.546 0.545 0.636 . 6.020 6.020 4.616 0.947 0.549 1.000 1.000 0.999 329 . . . . TRRAP 205 0 218 26 0.10655737704918 TRUE TRUE +ENSG00000196367.13 . BCM GRCh38.p13 chr7 98956414 98956414 + G G C Missense_Mutation SNP ENST00000359863.8 exon42 c.G6091C p.D2031H exonic ENSG00000196367.13 . nonsynonymous SNV ENSG00000196367.13:ENST00000359863.8:exon42:c.G6091C:p.D2031H 7q22.1 C3L-01288 . . . . . . . . . 8.20 D D P B D D L T N 0.665 T T T 0.339 0.113 0.281 1.440 T T T T D D 3.668 25.300 0.994 D D 0.304 3.800 0.460 4.812 1.000 0.707 0.702 0.725 0.714 . 5.690 5.690 7.019 1.176 0.676 1.000 1.000 0.999 328 . . . . TRRAP 166 0 93 39 0.295454545454545 TRUE TRUE +ENSG00000158516.12 . BCM GRCh38.p13 chr7 130279647 130279647 + T T G Missense_Mutation SNP ENST00000222481.9 exon9 c.T972G p.D324E exonic ENSG00000158516.12 . nonsynonymous SNV ENSG00000158516.12:ENST00000222481.9:exon9:c.T972G:p.D324E 7q32.2 C3L-01288 . . . . . . . . . 0.20 T T B B N N N T N 0.066 T T T 0.035 0.379 0.128 0.104 T T T T T T -0.244 0.410 0.750 N N -1.234 0.204 -1.262 0.235 1.000 0.487 0.590 0.574 0.542 . 6.170 -2.950 -3.611 0.168 0.665 0.000 0.001 0.001 . Carboxypeptidase_A,_carboxypeptidase_domain;Peptidase_M14,_carboxypeptidase_A . . . CPA2 123 0 115 48 0.294478527607362 TRUE TRUE +ENSG00000181652.19 . BCM GRCh38.p13 chr7 151019286 151019286 + G G A Missense_Mutation SNP ENST00000639579.1 exon6 c.C1052T p.P351L exonic ENSG00000181652.19 . nonsynonymous SNV ENSG00000181652.19:ENST00000639579.1:exon6:c.C1052T:p.P351L 7q36.1 C3L-01288 . . . . . . . . . 8.15 . T B B D . . . . 0.413 T T D 0.124 0.478 0.638 . T T D D D D 2.971 23.400 0.914 D D 0.065 2.750 0.201 3.188 1.000 0.199 0.085 0.215 0.155 . 5.270 5.270 6.939 1.176 0.618 1.000 0.987 0.922 940 . . . . ATG9B 155 0 74 15 0.168539325842697 TRUE TRUE +ENSG00000183808.11 . BCM GRCh38.p13 chr8 93734006 93734006 + T T G Missense_Mutation SNP ENST00000399300.6 exon3 c.A2405C p.D802A exonic ENSG00000183808.11 . nonsynonymous SNV ENSG00000183808.11:ENST00000399300.6:exon3:c.A2405C:p.D802A 8q22.1 C3L-01288 . . . . . . . . . 4.19 D T D D . N L T N 0.273 T T T 0.071 0.194 0.416 . T T T T D T 3.144 23.700 0.992 N N 0.062 2.740 -0.008 2.334 1.000 0.490 0.714 0.607 0.636 . 4.560 3.400 -0.198 1.138 0.665 0.000 1.000 0.998 478 . . . . RBM12B 68 0 65 22 0.252873563218391 TRUE TRUE +ENSG00000135049.15 . BCM GRCh38.p13 chr9 85678355 85678362 + AGAATGCT AGAATGCT - Frame_Shift_Del DEL ENST00000357081.7 exon5 c.262_269del p.S88Cfs*2 exonic ENSG00000135049.15 . frameshift deletion ENSG00000135049.15:ENST00000357081.7:exon5:c.262_269del:p.S88Cfs*2 9q21.33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGTPBP1 16 0 133 20 0.130718954248366 TRUE TRUE +ENSG00000178919.9 . BCM GRCh38.p13 chr9 97853932 97853934 + GCC GCC - In_Frame_Del DEL ENST00000375123.5 exon1 c.18_20del p.P10del exonic ENSG00000178919.9 . nonframeshift deletion ENSG00000178919.9:ENST00000375123.5:exon1:c.18_20del:p.P10del 9q22.33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXE1 15 0 11 4 0.266666666666667 TRUE NA +ENSG00000119328.12 . BCM GRCh38.p13 chr9 108939407 108939411 + GAAGT GAAGT - Nonsense_Mutation DEL ENST00000322940.11 exon5 c.361_365del p.V122* exonic ENSG00000119328.12 . stopgain ENSG00000119328.12:ENST00000322940.11:exon5:c.361_365del:p.V122* 9q31.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABITRAM 32 0 152 22 0.126436781609195 TRUE TRUE +ENSG00000119431.9 . BCM GRCh38.p13 chr9 113374236 113374236 + A A G Missense_Mutation SNP ENST00000238379.9 exon2 c.T119C p.V40A exonic ENSG00000119431.9 . nonsynonymous SNV ENSG00000119431.9:ENST00000238379.9:exon2:c.T119C:p.V40A 9q32 C3L-01288 . . . . . . . . . 8.20 D D D P N D M T N 0.454 T T T 0.208 0.426 0.431 0.639 T T T T D T 2.863 23.100 0.989 D D 0.517 5.170 0.511 5.264 1.000 0.646 0.696 0.571 0.636 . 5.950 5.950 8.445 1.312 0.756 1.000 0.353 0.060 856 . . . . HDHD3 44 0 32 12 0.272727272727273 NA TRUE +ENSG00000119333.11 . BCM GRCh38.p13 chr9 128636431 128636431 + G G T Missense_Mutation SNP ENST00000372715.6 exon4 c.C553A p.H185N exonic ENSG00000119333.11 . nonsynonymous SNV ENSG00000119333.11:ENST00000372715.6:exon4:c.C553A:p.H185N 9q34.11 C3L-01288 . . . . . . . . . 3.20 T T B B D N N D D 0.193 T T T 0.173 0.349 0.670 0.115 T T T T T T 1.137 13.120 0.813 N N -0.358 1.477 -0.373 1.422 1.000 0.722 0.702 0.699 0.735 . 5.750 3.920 1.455 0.141 -0.184 0.735 0.465 0.180 0 . . . . WDR34 333 0 186 70 0.2734375 TRUE TRUE +ENSG00000148399.13 . BCM GRCh38.p13 chr9 137555625 137555625 + G G - Nonsense_Mutation SNP ENST00000277540.7 exon9 c.973delC p.L325* exonic ENSG00000148399.13 . stopgain ENSG00000148399.13:ENST00000277540.7:exon9:c.973delC:p.L325* 9q34.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPH7 84 0 49 17 0.257575757575758 TRUE TRUE +ENSG00000185009.12 . BCM GRCh38.p13 chr10 74138342 74138342 + T T G Missense_Mutation SNP ENST00000355264.8 exon2 c.A38C p.D13A exonic ENSG00000185009.12 . nonsynonymous SNV ENSG00000185009.12:ENST00000355264.8:exon2:c.A38C:p.D13A 10q22.2 C3L-01288 . . . . . . . . . 14.20 D D B B D D M T D 0.819 T T D 0.665 0.487 0.826 0.510 D T D D D D 3.452 24.600 0.991 D D 0.250 3.534 0.403 4.381 1.000 0.707 0.725 0.725 0.714 . 5.820 5.820 7.623 1.138 0.665 1.000 1.000 1.000 293 AP_complex,_mu/sigma_subunit . . . AP3M1 95 0 204 24 0.105263157894737 TRUE TRUE +ENSG00000197891.12 . BCM GRCh38.p13 chr11 64599752 64599752 + A A G Missense_Mutation SNP ENST00000377574.6 exon7 c.A1147G p.M383V exonic ENSG00000197891.12 . nonsynonymous SNV ENSG00000197891.12:ENST00000377574.6:exon7:c.A1147G:p.M383V 11q13.1 C3L-01288 . . . . . . . . . 0.20 T T B B N N N T N 0.093 T T T 0.060 0.438 0.520 0.243 T T T T T T -0.171 0.589 0.632 N N -1.410 0.113 -1.345 0.181 0.769 0.570 0.658 0.578 0.563 . 4.790 0.430 -0.041 -0.141 -0.765 0.000 0.107 0.027 466 Major_facilitator_superfamily_domain . . . SLC22A12 526 0 378 106 0.21900826446281 TRUE TRUE +ENSG00000019144.19 . BCM GRCh38.p13 chr11 118627355 118627355 + C C T Missense_Mutation SNP ENST00000600882.6 exon6 c.C532T p.R178W exonic ENSG00000019144.19 . nonsynonymous SNV ENSG00000019144.19:ENST00000600882.6:exon6:c.C532T:p.R178W 11q23.3 C3L-01288 8.242e-06 0 0 0.0001 0 0 0 0 rs145152438 9.20 D D D D N N L T D 0.287 T T T 0.158 . 0.139 0.367 T T T T D D 3.607 25.100 0.998 D D 0.347 4.034 0.341 3.965 1.000 0.719 0.590 0.723 0.714 . 5.750 5.750 0.640 1.026 0.599 0.754 0.999 0.974 309 . . . ID=COSV100616173;OCCURENCE=1(endometrium) PHLDB1 496 1 152 49 0.243781094527363 TRUE NA +ENSG00000111224.14 . BCM GRCh38.p13 chr12 3821879 3821879 + A A C Missense_Mutation SNP ENST00000228820.9 exon6 c.T542G p.F181C exonic ENSG00000111224.14 . nonsynonymous SNV ENSG00000111224.14:ENST00000228820.9:exon6:c.T542G:p.F181C 12p13.32 C3L-01288 . . . . . . . . . 15.18 D D D D D D . T D 0.928 T T D 0.474 . 0.697 0.959 D . D D D D 4.145 28.100 0.994 D D 0.661 6.605 0.622 6.513 1.000 0.638 0.602 0.731 0.668 . 5.180 5.180 3.592 1.207 0.756 1.000 0.998 0.998 930 Poly(ADP-ribose)_polymerase,_catalytic_domain . . . PARP11 48 0 100 22 0.180327868852459 TRUE NA +ENSG00000171681.12 . BCM GRCh38.p13 chr12 14434384 14434384 + - NA A Frame_Shift_Ins NA ENST00000261168.8 exon3 c.1607dupA p.V537Sfs*4 exonic ENSG00000171681.12 . frameshift insertion ENSG00000171681.12:ENST00000261168.8:exon3:c.1607dupA:p.V537Sfs*4 12p13.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATF7IP NA NA NA NA NA NA NA +ENSG00000170473.17 . BCM GRCh38.p13 chr12 55902080 55902080 + G G A Missense_Mutation SNP ENST00000408946.7 exon3 c.C407T p.T136I exonic ENSG00000170473.17 . nonsynonymous SNV ENSG00000170473.17:ENST00000408946.7:exon3:c.C407T:p.T136I 12q13.2 C3L-01288 . . . . . . . . . 0.19 T T B B N N . T N 0.114 T T T 0.046 0.183 0.082 0.832 T T T T T T 1.762 17.450 0.982 N N -0.673 0.859 -0.578 1.080 0.093 0.707 0.702 0.725 0.714 . 4.960 4.050 2.249 0.245 0.676 0.746 0.567 0.997 725 . . . . PYM1 298 0 276 82 0.229050279329609 TRUE TRUE +ENSG00000135446.17 . BCM GRCh38.p13 chr12 57748589 57748589 + C C T Missense_Mutation SNP ENST00000257904.11 exon8 c.G848A p.R283Q exonic ENSG00000135446.17 . nonsynonymous SNV ENSG00000135446.17:ENST00000257904.11:exon8:c.G848A:p.R283Q 12q14.1 C3L-01288 . . . . . . . . . 18.20 D D D D D D H T D 0.859 D D D 0.784 0.923 0.955 1.737 T D D D D D 4.043 27.300 1.000 D D 0.961 12.732 0.820 10.755 1.000 0.707 0.698 0.702 0.714 . 4.340 4.340 4.851 1.026 0.599 1.000 1.000 0.999 159 Protein_kinase_domain . . ID=COSV57275477;OCCURENCE=1(large_intestine),1(endometrium) CDK4 616 1 437 137 0.238675958188153 TRUE TRUE +ENSG00000135677.11 . BCM GRCh38.p13 chr12 64739471 64739471 + G G T Missense_Mutation SNP ENST00000258145.8 exon8 c.C904A p.L302I exonic ENSG00000135677.11 . nonsynonymous SNV ENSG00000135677.11:ENST00000258145.8:exon8:c.C904A:p.L302I 12q14.3 C3L-01288 . . . . . . . . . 13.20 D T D P D D L D N 0.586 T T D 0.727 0.645 0.944 1.266 T D D D D D 3.574 25.000 0.994 D D 0.361 4.109 0.418 4.486 1.000 0.732 0.725 0.744 0.714 . 5.340 4.440 4.850 1.172 0.671 1.000 1.000 0.951 721 Sulfatase,_N-terminal . . . GNS 392 0 363 131 0.265182186234818 TRUE TRUE +ENSG00000150990.8 . BCM GRCh38.p13 chr12 124950437 124950437 + G G T Missense_Mutation SNP ENST00000308736.7 exon23 c.C3097A p.L1033M exonic ENSG00000150990.8 . nonsynonymous SNV ENSG00000150990.8:ENST00000308736.7:exon23:c.C3097A:p.L1033M 12q24.31 C3L-01288 . . . . . . . . . 0.20 T T B B N N L T N 0.409 T T T 0.018 0.399 0.139 0.224 T T T T T T 0.759 8.997 0.813 N N -0.728 0.767 -0.749 0.829 0.412 0.672 0.577 0.702 0.636 . 5.070 0.896 0.984 0.245 0.676 0.001 0.152 0.182 940 . . . . DHX37 59 0 41 8 0.163265306122449 TRUE TRUE +ENSG00000139618.15 . BCM GRCh38.p13 chr13 32336623 32336623 + G G T Missense_Mutation SNP ENST00000380152.7 exon11 c.G2268T p.Q756H exonic ENSG00000139618.15 . nonsynonymous SNV ENSG00000139618.15:ENST00000380152.7:exon11:c.G2268T:p.Q756H 13q13.1 C3L-01288 . . . . . . . . . 4.15 D T . . N N . T D 0.380 T T D 0.272 0.157 0.890 0.053 T . T T D . 1.626 16.540 0.987 N N -0.377 1.435 -0.602 1.043 0.802 0.651 0.654 0.609 0.684 . 5.580 -1.090 0.210 0.210 0.597 0.004 0.001 0.016 755 . . . . BRCA2 113 0 490 39 0.0737240075614367 TRUE TRUE +ENSG00000175820.4 . BCM GRCh38.p13 chr13 102743777 102743777 + G G T Nonsense_Mutation SNP ENST00000322527.4 exon4 c.C6920A p.S2307X exonic ENSG00000175820.4 . stopgain ENSG00000175820.4:ENST00000322527.4:exon4:c.C6920A:p.S2307X 13q33.1 C3L-01288 . . . . . . . . . 0.3 . . . . . . . . . 0.023 . . . . . . . . . T T . . 5.387 34 0.653 N . . . . . 0.978 0.075 0.060 0.063 0.091 0.052 3.200 2.340 0.185 0.182 0.650 0.002 0.022 0.006 943 . . . . CCDC168 43 0 219 42 0.160919540229885 TRUE TRUE +ENSG00000197616.12 . BCM GRCh38.p13 chr14 23393470 23393470 + T T C Missense_Mutation SNP ENST00000405093.8 exon23 c.A2977G p.K993E exonic ENSG00000197616.12 . nonsynonymous SNV ENSG00000197616.12:ENST00000405093.8:exon23:c.A2977G:p.K993E 14q11.2 C3L-01288 . . . . . . . . . 16.19 D D P B . D H D D 0.841 D D D 0.840 0.283 0.961 0.935 D D D D D T 2.911 23.200 0.999 D D 0.645 6.413 0.619 6.472 1.000 0.497 0.590 0.578 0.563 . 5.120 5.120 7.741 1.054 0.566 1.000 0.994 0.923 367 Myosin_tail . . . MYH6 412 0 181 94 0.341818181818182 TRUE TRUE +ENSG00000150527.17 . BCM GRCh38.p13 chr14 39237055 39237055 + T T G Missense_Mutation SNP ENST00000640607.1 exon2 c.T249G p.S83R exonic ENSG00000150527.17 . nonsynonymous SNV ENSG00000150527.17:ENST00000640607.1:exon2:c.T249G:p.S83R 14q21.1 C3L-01288 . . . . . . . . . 18.20 D D D D D D M D D 0.733 D D D 0.697 0.459 0.940 0.204 T T D D D D 3.525 24.800 0.998 D D 0.515 5.151 0.438 4.641 0.994 0.487 0.574 0.547 0.613 . 5.260 2.950 2.091 0.200 0.665 1.000 1.000 0.988 770 MIA2,_SH3_domain;SH3_domain . . . MIA2 57 0 65 33 0.336734693877551 TRUE TRUE +ENSG00000087303.18 . BCM GRCh38.p13 chr14 52027206 52027206 + C C A Missense_Mutation SNP ENST00000216286.10 exon12 c.G2669T p.C890F exonic ENSG00000087303.18 . nonsynonymous SNV ENSG00000087303.18:ENST00000216286.10:exon12:c.G2669T:p.C890F 14q22.1 C3L-01288 . . . . . . . . . 18.20 D D D P D D H D D 0.972 D D D 0.722 0.545 0.972 0.444 T D D D D D 3.508 24.700 0.992 D D 0.773 8.268 0.691 7.581 1.000 0.693 0.547 0.659 0.669 . 5.980 5.980 5.243 1.026 0.594 0.997 0.558 0.142 902 EGF-like,_conserved_site;EGF-like_domain;Complement_Clr-like_EGF_domain;EGF-like_calcium-binding_domain . . . NID2 61 0 21 3 0.125 TRUE NA +ENSG00000156030.13 . BCM GRCh38.p13 chr14 73729962 73729962 + C C A Missense_Mutation SNP ENST00000286523.9 exon4 c.G1773T p.L591F exonic ENSG00000156030.13 . nonsynonymous SNV ENSG00000156030.13:ENST00000286523.9:exon4:c.G1773T:p.L591F 14q24.3 C3L-01288 . . . . . . . . . 1.20 T T B B N N L T N 0.103 T T T 0.029 0.245 0.212 0.461 T T T T T T 1.632 16.580 0.994 D N -0.361 1.470 -0.269 1.629 1.000 0.706 0.702 0.710 0.711 . 5.250 2.440 0.059 0.120 0.539 0.511 0.951 0.913 399 . . . . MIDEAS 43 0 52 3 0.0545454545454545 TRUE NA +ENSG00000081014.11 . BCM GRCh38.p13 chr15 50915480 50915480 + A A G Missense_Mutation SNP ENST00000261842.10 exon3 c.A255G p.I85M exonic ENSG00000081014.11 . nonsynonymous SNV ENSG00000081014.11:ENST00000261842.10:exon3:c.A255G:p.I85M 15q21.2 C3L-01288 8.245e-06 0 0 0 0 0 0 6.058e-05 rs771939364 3.20 T T B B D D L T N 0.489 T T T 0.121 0.711 0.202 0.155 T T T T T T 1.211 13.720 0.790 D N -0.538 1.103 -0.427 1.325 0.298 0.651 0.602 0.659 0.684 . 5.580 -1.280 0.093 1.311 0.754 0.938 1.000 0.998 203 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . AP4E1 45 0 317 93 0.226829268292683 TRUE NA +ENSG00000140464.20 . BCM GRCh38.p13 chr15 74044629 74044629 + T T A Missense_Mutation SNP ENST00000268058.8 exon9 c.T2270A p.L757H exonic ENSG00000140464.20 . nonsynonymous SNV ENSG00000140464.20:ENST00000268058.8:exon9:c.T2270A:p.L757H 15q24.1 C3L-01288 . . . . . . . . . 9.20 D D D P N N M T N 0.705 T T D 0.261 0.385 0.773 0.811 T D D T D T 3.361 24.300 0.976 D N 0.157 3.119 0.064 2.590 1.000 0.651 0.644 0.659 0.684 . 5.180 5.180 1.780 1.122 0.665 0.046 0.849 0.678 801 . . . . PML 253 0 171 84 0.329411764705882 TRUE TRUE +ENSG00000103723.15 . BCM GRCh38.p13 chr15 82709597 82709597 + T T G Missense_Mutation SNP ENST00000620652.4 exon1 c.A110C p.K37T exonic ENSG00000103723.15 . nonsynonymous SNV ENSG00000103723.15:ENST00000620652.4:exon1:c.A110C:p.K37T 15q25.2 C3L-01288 . . . . . . . . rs1025914031 8.20 T T B B U D L T D 0.468 T T D 0.085 0.500 0.514 1.311 D T T T D D 2.694 22.800 0.988 D D 0.162 3.139 0.179 3.082 1.000 0.437 0.607 0.520 0.604 . 3.490 3.490 3.459 0.913 0.625 1.000 0.998 0.987 512 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . AP3B2 170 0 123 35 0.221518987341772 TRUE NA +ENSG00000185551.15 . BCM GRCh38.p13 chr15 96334367 96334367 + T T G Missense_Mutation SNP ENST00000394166.8 exon2 c.T734G p.L245R exonic ENSG00000185551.15 . nonsynonymous SNV ENSG00000185551.15:ENST00000394166.8:exon2:c.T734G:p.L245R 15q26.2 C3L-01288 . . . . . . . . . 20.20 D D D D D D H D D 0.955 D D D 0.961 0.906 0.977 3.414 D D D D D D 4.650 32 0.997 D D 0.966 12.889 0.860 12.138 1.000 0.543 0.628 0.378 0.639 . 5.090 5.090 8.017 1.138 0.665 1.000 1.000 0.999 901 Nuclear_hormone_receptor,_ligand-binding_domain . . . NR2F2 314 0 217 80 0.269360269360269 TRUE TRUE +ENSG00000127585.12 . BCM GRCh38.p13 chr16 696847 696852 + TGTCAA TGTCAA - In_Frame_Del DEL ENST00000397621.6 exon2 c.554_559del p.I185_D186del exonic ENSG00000127585.12 . nonframeshift deletion ENSG00000127585.12:ENST00000397621.6:exon2:c.554_559del:p.I185_D186del 16p13.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXL16 106 0 67 39 0.367924528301887 TRUE TRUE +ENSG00000103249.18 . BCM GRCh38.p13 chr16 1465334 1465334 + G G T Missense_Mutation SNP ENST00000382745.9 exon2 c.C146A p.P49Q exonic ENSG00000103249.18 . nonsynonymous SNV ENSG00000103249.18:ENST00000382745.9:exon2:c.C146A:p.P49Q 16p13.3 C3L-01288 . . . . . . . . . 5.20 D D B B N N L D N 0.224 T D D 0.163 0.270 0.387 0.549 T T T T T T 1.241 13.950 0.973 N N -0.564 1.053 -0.493 1.213 0.984 0.732 0.710 0.723 0.728 . 4.770 3.780 3.439 1.005 0.675 0.420 0.012 0.213 784 . . . . CLCN7 653 1 565 123 0.178779069767442 TRUE TRUE +ENSG00000168096.15 . BCM GRCh38.p13 chr16 4701426 4701436 + ATCCGTACCTC ATCCGTACCTC - In_Frame_Del DEL ENST00000304283.9 exon10 c.1117_1119del p.E373del exonic ENSG00000168096.15 . nonframeshift deletion ENSG00000168096.15:ENST00000304283.9:exon10:c.1117_1119del:p.E373del 16p13.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKS3 82 0 78 16 0.170212765957447 TRUE TRUE +ENSG00000103381.12 . BCM GRCh38.p13 chr16 12705014 12705014 + T T G Missense_Mutation SNP ENST00000381774.9 exon3 c.A325C p.K109Q exonic ENSG00000103381.12 . nonsynonymous SNV ENSG00000103381.12:ENST00000381774.9:exon3:c.A325C:p.K109Q 16p13.12 C3L-01288 . . . . . . . . . 3.20 T T B B N D L T N 0.128 T T D 0.112 0.521 0.411 0.058 T T T T T T 1.332 14.610 0.798 D N -0.499 1.179 -0.341 1.482 0.011 0.706 0.710 0.710 0.714 . 5.700 3.600 4.464 0.206 -0.137 1.000 0.284 0.078 964 Calcineurin-like_phosphoesterase_domain,_ApaH_type . . . CPPED1 149 0 94 65 0.408805031446541 TRUE TRUE +ENSG00000185561.10 . BCM GRCh38.p13 chr17 1707823 1707823 + G G T Missense_Mutation SNP ENST00000330676.8 exon4 c.C742A p.R248S exonic ENSG00000185561.10 . nonsynonymous SNV ENSG00000185561.10:ENST00000330676.8:exon4:c.C742A:p.R248S 17p13.3 C3L-01288 . . . . . . . . . 0.15 T T . . . N N . N 0.062 T T T 0.003 0.184 0.014 . T T T T T . -0.477 0.133 0.557 N N -1.407 0.114 -1.532 0.096 0.991 0.646 0.563 0.645 0.655 . 4.740 -5.270 -0.753 -0.216 -0.744 0.000 0.000 0.001 635 . . . . TLCD2 81 0 41 3 0.0681818181818182 TRUE NA +ENSG00000177602.5 . BCM GRCh38.p13 chr17 3725766 3725766 + G G T Missense_Mutation SNP ENST00000325418.5 exon1 c.G1831T p.D611Y exonic ENSG00000177602.5 . nonsynonymous SNV ENSG00000177602.5:ENST00000325418.5:exon1:c.G1831T:p.D611Y 17p13.2 C3L-01288 . . . . . . . . . 17.20 D D D D D D H T D 0.845 D D D 0.551 0.611 0.905 1.329 T D D D D T 3.709 25.400 0.994 D D 0.749 7.863 0.622 6.509 1.000 0.672 0.663 0.702 0.662 . 4.870 4.870 3.991 1.176 0.676 1.000 0.977 0.922 661 Protein_kinase_domain . . . HASPIN 54 0 40 3 0.0697674418604651 TRUE NA +ENSG00000129255.16 . BCM GRCh38.p13 chr17 7587252 7587252 + - NA A Frame_Shift_Ins NA ENST00000250124.11 exon6 c.600dupA p.I201Nfs*101 exonic ENSG00000129255.16 . frameshift insertion ENSG00000129255.16:ENST00000250124.11:exon6:c.600dupA:p.I201Nfs*101 17p13.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPDU1 NA NA NA NA NA NA NA +ENSG00000188522.15 . BCM GRCh38.p13 chr17 18971436 18971436 + T T C Missense_Mutation SNP ENST00000388995.11 exon6 c.A2395G p.R799G exonic ENSG00000188522.15 . nonsynonymous SNV ENSG00000188522.15:ENST00000388995.11:exon6:c.A2395G:p.R799G 17p11.2 C3L-01288 . . . . . . . . . 7.20 D D P B N D M T N 0.478 T T T 0.086 0.262 0.496 0.572 T T T T D T 2.636 22.700 0.984 D D 0.043 2.667 -0.027 2.269 0.387 0.672 0.577 0.702 0.636 . 5.540 3.210 2.012 1.138 0.663 1.000 0.499 0.029 819 . . . . FAM83G 279 0 188 45 0.1931330472103 TRUE TRUE +ENSG00000239886.5 . BCM GRCh38.p13 chr17 41226737 41226737 + C C T Missense_Mutation SNP ENST00000377721.3 exon1 c.C83T p.T28I exonic ENSG00000239886.5 . nonsynonymous SNV ENSG00000239886.5:ENST00000377721.3:exon1:c.C83T:p.T28I 17q21.2 C3L-01288 . . . . . . . . . 1.19 T D B B . N N T N 0.149 T T T 0.027 0.290 0.124 1.224 T T T T T T 0.595 7.459 0.832 N N -1.117 0.292 -1.168 0.311 0.000 0.487 0.590 0.574 0.564 . 1.970 0.980 -0.182 -1.238 -1.016 0.016 0.000 0.001 115 . . . ID=COSV66646863;OCCURENCE=1(skin) KRTAP9-2 390 0 278 57 0.170149253731343 NA TRUE +ENSG00000171346.16 . BCM GRCh38.p13 chr17 41516933 41516933 + C C T Missense_Mutation SNP ENST00000254043.8 exon3 c.G613A p.V205I exonic ENSG00000171346.16 . nonsynonymous SNV ENSG00000171346.16:ENST00000254043.8:exon3:c.G613A:p.V205I 17q21.2 C3L-01288 0.0002 0.0003 0 0.0006 0 7.492e-05 0 0.0004 rs138271368 14.20 D D D D D D H D N 0.502 D D D 0.586 . 0.889 0.307 T T T D T T 2.899 23.200 0.999 D D 0.594 5.863 0.433 4.601 1.000 0.615 0.590 0.479 0.655 . 4.860 2.740 5.020 0.129 -0.173 1.000 0.006 0.001 419 Intermediate_filament,_rod_domain . . ID=COSV54177886;OCCURENCE=1(breast),3(liver),2(oesophagus),4(large_intestine),9(central_nervous_system),1(stomach),1(soft_tissue),1(kidney),1(pancreas),2(skin),3(prostate),1(upper_aerodigestive_tract),1(endometrium) KRT15 456 0 347 89 0.204128440366972 TRUE TRUE +ENSG00000108825.17 . BCM GRCh38.p13 chr17 42979443 42979443 + A A G Missense_Mutation SNP ENST00000409446.7 exon2 c.T139C p.C47R exonic ENSG00000108825.17;ENSG00000267060.5 . nonsynonymous SNV ENSG00000267060.5:ENST00000409446.7:exon2:c.T139C:p.C47R,ENSG00000108825.17:ENST00000421990.6:exon3:c.T253C:p.C85R 17q21.31 C3L-01288 . . . . . . . . . 12.18 D D D D D . . T D 0.924 T T D 0.356 0.878 0.483 0.675 T T D D D T 4.661 32 0.978 D D 0.712 7.295 0.649 6.890 1.000 0.767 0.628 0.851 0.605 . 5.020 5.020 6.371 1.281 0.727 1.000 0.963 0.821 194 CS_domain . . . PTGES3L-AARSD1 298 0 280 78 0.217877094972067 TRUE TRUE +ENSG00000108375.12 . BCM GRCh38.p13 chr17 58358712 58358712 + G G T Missense_Mutation SNP ENST00000584437.5 exon8 c.C1064A p.A355D exonic ENSG00000108375.12;ENSG00000285897.1 . nonsynonymous SNV ENSG00000108375.12:ENST00000584437.5:exon8:c.C1064A:p.A355D,ENSG00000285897.1:ENST00000648873.1:exon8:c.C1064A:p.A355D 17q22 C3L-01288 . . . . . . . . . 4.20 D T B B N N M T N 0.513 T T T 0.090 0.239 0.231 0.731 T T T T D T 2.260 21.300 0.991 D N -0.357 1.479 -0.238 1.698 1.000 0.497 0.380 0.578 0.542 . 3.540 2.450 2.541 1.157 0.595 0.948 1.000 0.994 308 . . . . RNF43 75 0 33 20 0.377358490566038 TRUE TRUE +ENSG00000101782.15 . BCM GRCh38.p13 chr18 23477255 23477255 + G G T Missense_Mutation SNP ENST00000339486.8 exon11 c.G1331T p.R444M exonic ENSG00000101782.15 . nonsynonymous SNV ENSG00000101782.15:ENST00000339486.8:exon11:c.G1331T:p.R444M 18q11.2 C3L-01288 . . . . . . . . . 12.20 D D D P D D M T N 0.749 T T D 0.289 0.510 0.761 1.015 D T T T D D 3.795 25.800 0.841 D D 0.805 8.874 0.764 9.135 1.000 0.707 0.725 0.725 0.714 . 5.960 5.090 7.810 1.148 0.659 1.000 1.000 0.996 821 RIO_kinase . . . RIOK3 333 0 402 42 0.0945945945945946 TRUE TRUE +ENSG00000141447.18 . BCM GRCh38.p13 chr18 24332951 24332951 + T T C Missense_Mutation SNP ENST00000319481.8 exon7 c.A616G p.N206D exonic ENSG00000141447.18 . nonsynonymous SNV ENSG00000141447.18:ENST00000319481.8:exon7:c.A616G:p.N206D 18q11.2 C3L-01288 . . . . . . . . . 10.20 D D D D D D N T N 0.800 T T D 0.470 0.473 0.813 0.556 T T T T D T 3.976 26.800 0.998 D D 0.427 4.515 0.488 5.052 0.999 0.707 0.574 0.725 0.655 . 4.840 4.840 7.212 1.134 0.661 1.000 1.000 0.999 952 Ankyrin_repeat-containing_domain . . . OSBPL1A 92 0 111 37 0.25 TRUE TRUE +ENSG00000075643.6 . BCM GRCh38.p13 chr18 36215552 36215552 + G G T Missense_Mutation SNP ENST00000261326.6 exon8 c.G1372T p.D458Y exonic ENSG00000075643.6 . nonsynonymous SNV ENSG00000075643.6:ENST00000261326.6:exon8:c.G1372T:p.D458Y 18q12.2 C3L-01288 . . . . . . . . . 16.20 D D D D D D M T D 0.818 T T D 0.342 0.557 0.459 0.476 T D D D D D 3.159 23.800 0.990 D D 0.705 7.194 0.598 6.199 0.999 0.706 0.588 0.710 0.580 . 5.450 5.450 5.803 0.227 -0.123 1.000 0.041 0.006 750 Aminotransferase_class_V_domain . . . MOCOS 274 0 249 92 0.269794721407625 TRUE TRUE +ENSG00000130669.17 . BCM GRCh38.p13 chr19 39172980 39172980 + T T A Missense_Mutation SNP ENST00000593690.5 exon5 c.T267A p.F89L exonic ENSG00000130669.17 . nonsynonymous SNV ENSG00000130669.17:ENST00000593690.5:exon5:c.T267A:p.F89L 19q13.2 C3L-01288 . . . . . . . . . 4.20 T T B B D D L T N 0.371 T T T 0.153 0.222 0.393 0.299 D T T T T T 1.509 15.800 0.989 D N -0.594 0.998 -0.504 1.195 0.113 0.732 0.654 0.723 0.728 . 4.200 0.680 -0.151 1.138 0.663 0.773 1.000 1.000 496 . . . . PAK4 162 0 109 44 0.287581699346405 TRUE TRUE +ENSG00000180532.10 . BCM GRCh38.p13 chr19 57678405 57678405 + A A C Missense_Mutation SNP ENST00000318203.9 exon5 c.A802C p.M268L exonic ENSG00000180532.10 . nonsynonymous SNV ENSG00000180532.10:ENST00000318203.9:exon5:c.A802C:p.M268L 19q13.43 C3L-01288 . . . . . . . . . 0.20 T T B B N N L T N 0.108 T T T 0.008 0.441 0.067 0.076 T T T T T T -0.645 0.058 0.718 N N -1.728 0.032 -1.834 0.029 0.529 0.487 0.574 0.563 0.564 . 3.810 -7.250 -1.563 0.090 -0.585 0.000 0.006 0.001 982 . . . . ZSCAN4 311 0 277 87 0.239010989010989 TRUE TRUE +ENSG00000125810.10 . BCM GRCh38.p13 chr20 23086168 23086168 + G G T Missense_Mutation SNP ENST00000246006.5 exon1 c.C25A p.L9M exonic ENSG00000125810.10 . nonsynonymous SNV ENSG00000125810.10:ENST00000246006.5:exon1:c.C25A:p.L9M 20p11.21 C3L-01288 . . . . . . . . . 10.20 T T D D N D M D N 0.293 D D D 0.285 0.346 0.896 0.358 T T T T D T 3.080 23.600 0.995 D N 0.437 4.580 0.371 4.161 1.000 0.609 0.682 0.492 0.562 . 5.360 5.360 2.692 0.245 0.671 0.367 0.145 0.765 892 . . . . CD93 102 1 120 7 0.0551181102362205 TRUE NA +ENSG00000131059.12 . BCM GRCh38.p13 chr20 33217618 33217618 + G G - Frame_Shift_Del DEL ENST00000375454.8 exon1 c.82delG p.G28Afs*22 exonic ENSG00000131059.12 . frameshift deletion ENSG00000131059.12:ENST00000375454.8:exon1:c.82delG:p.G28Afs*22 20q11.21 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BPIFA3 255 0 178 27 0.131707317073171 TRUE TRUE +ENSG00000154646.9 . BCM GRCh38.p13 chr21 18403511 18403511 + C C A Missense_Mutation SNP ENST00000284885.8 exon1 c.G112T p.V38L exonic ENSG00000154646.9 . nonsynonymous SNV ENSG00000154646.9:ENST00000284885.8:exon1:c.G112T:p.V38L 21q21.1 C3L-01288 . . . . . . . . . 1.20 T T B B N N L D N 0.138 T T T 0.135 0.282 0.694 0.028 T T T T T T -0.057 1.018 0.894 N N -0.697 0.818 -0.622 1.013 0.000 0.487 0.574 0.574 0.564 . 5.160 -0.223 -0.174 -0.239 -0.182 0.323 0.938 0.875 992 . . . . TMPRSS15 230 0 395 23 0.0550239234449761 TRUE TRUE +ENSG00000214107.8 . BCM GRCh38.p13 chrX 30251323 30251323 + A A C Missense_Mutation SNP ENST00000378981.7 exon4 c.A830C p.Y277S exonic ENSG00000214107.8 . nonsynonymous SNV ENSG00000214107.8:ENST00000378981.7:exon4:c.A830C:p.Y277S Xp21.2 C3L-01288 . . . . . . . . . 7.19 D D D D N N M T D 0.168 T T T 0.036 0.646 0.547 0.318 T T T T D T 1.576 16.220 0.851 N . . . . . 0.795 . . . . . 3.990 0.116 -0.339 0.281 -0.103 0.000 0.003 0.026 738 MAGE_homology_domain . . . MAGEB1 416 0 423 34 0.074398249452954 TRUE TRUE +ENSG00000165259.14 . BCM GRCh38.p13 chrX 84344445 84344445 + T T G Missense_Mutation SNP ENST00000373177.3 exon7 c.A1465C p.N489H exonic ENSG00000165259.14 . nonsynonymous SNV ENSG00000165259.14:ENST00000373177.3:exon7:c.A1465C:p.N489H Xq21.1 C3L-01288 . . . . . . . . . 18.19 D D D D D D M D D 0.859 D D D 0.704 0.270 0.929 0.585 T D D D D D 3.683 25.300 0.996 D . . . . . 1.000 . . . . . 5.470 5.470 6.465 1.137 0.665 1.000 1.000 0.999 512 Homeobox_domain . . . HDX 210 0 207 63 0.233333333333333 TRUE TRUE +ENSG00000184905.9 . BCM GRCh38.p13 chrX 102127480 102127480 + C C A Missense_Mutation SNP ENST00000372780.6 exon3 c.C650A p.P217Q exonic ENSG00000184905.9 . nonsynonymous SNV ENSG00000184905.9:ENST00000372780.6:exon3:c.C650A:p.P217Q Xq22.1 C3L-01288 . . . . . . . . . 2.19 T T D D N N L T N 0.221 T T T 0.118 0.100 0.129 0.379 T T T T T T 1.845 18.070 0.987 N . . . . . 0.000 . . . . . 2.880 2.880 1.358 0.696 0.598 0.026 0.753 0.999 98 . . . . TCEAL2 55 0 44 3 0.0638297872340425 TRUE NA +ENSG00000197565.16 . BCM GRCh38.p13 chrX 108161667 108161667 + G G T Missense_Mutation SNP ENST00000372216.8 exon42 c.C4288A p.L1430I exonic ENSG00000197565.16 . nonsynonymous SNV ENSG00000197565.16:ENST00000372216.8:exon42:c.C4288A:p.L1430I Xq22.3 C3L-01288 . . . . . . . . . 2.19 T T P B N N N D N 0.170 T T D 0.233 0.342 0.533 0.196 T T T T T T 0.563 7.152 0.983 N . . . . . 0.444 . . . . . 5.130 4.250 0.231 -0.170 -0.103 0.000 0.328 0.778 96 . . . . COL4A6 118 0 89 22 0.198198198198198 TRUE TRUE +ENSG00000070985.13 . BCM GRCh38.p13 chr11 2407117 2407117 + A A C Splice_Site SNP NA NA NA NA splicing ENSG00000070985.13 ENST00000155858.10:exon20:c.3118+2T>G . . 11p15.5 C3L-01288 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 4.841 33 0.919 D . 0.614 6.068 0.344 3.984 0.687 0.054 0.037 0.045 0.063 0.393 3.210 1.910 4.322 0.879 0.636 1.000 0.951 0.748 988 . . . ID=COSV50182633;OCCURENCE=1(soft_tissue) TRPM5 114 0 52 4 0.0714285714285714 NA TRUE +ENSG00000006788.14 . BCM GRCh38.p13 chr17 10343799 10343799 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000006788.14 ENST00000252172.9:exon16:c.1894+1G>T . . 17p13.1 C3L-01288 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.132 33 0.994 D . 0.983 13.411 0.775 9.413 1.000 0.054 0.060 0.060 0.057 0.975 4.200 4.200 5.755 1.010 0.537 1.000 0.753 0.409 72 . . . . MYH13 39 0 36 15 0.294117647058824 TRUE TRUE +ENSG00000160072.20 . BCM GRCh38.p13 chr1 1490572 1490572 + G G A Silent SNP ENST00000673477.1 exon15 c.G1515A p.K505K exonic ENSG00000160072.20 . synonymous SNV ENSG00000160072.20:ENST00000673477.1:exon15:c.G1515A:p.K505K 1p36.33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATAD3B 489 0 327 97 0.22877358490566 TRUE TRUE +ENSG00000188984.12 . BCM GRCh38.p13 chr1 12725564 12725564 + A A G Silent SNP ENST00000359318.8 exon4 c.A792G p.Q264Q exonic ENSG00000188984.12 . synonymous SNV ENSG00000188984.12:ENST00000359318.8:exon4:c.A792G:p.Q264Q 1p36.21 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AADACL3 213 0 177 41 0.188073394495413 TRUE TRUE +ENSG00000158062.20 . BCM GRCh38.p13 chr1 26302851 26302851 + G G C Silent SNP ENST00000374222.5 exon3 c.C33G p.T11T exonic ENSG00000158062.20 . synonymous SNV ENSG00000158062.20:ENST00000374222.5:exon3:c.C33G:p.T11T 1p36.11 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBXN11 133 1 125 20 0.137931034482759 TRUE TRUE +ENSG00000117461.15 . BCM GRCh38.p13 chr1 46045995 46045995 + G G A Silent SNP ENST00000262741.10 exon9 c.C1110T p.D370D exonic ENSG00000117461.15;ENSG00000278139.1 . synonymous SNV ENSG00000117461.15:ENST00000262741.10:exon9:c.C1110T:p.D370D,ENSG00000278139.1:ENST00000540385.2:exon9:c.C1248T:p.D416D 1p34.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3R3 120 0 218 55 0.201465201465201 TRUE TRUE +ENSG00000117362.13 . BCM GRCh38.p13 chr1 150268709 150268709 + G G A Silent SNP ENST00000369109.8 exon1 c.C102T p.I34I exonic ENSG00000117362.13 . synonymous SNV ENSG00000117362.13:ENST00000369109.8:exon1:c.C102T:p.I34I 1q21.2 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APH1A 167 0 147 53 0.265 TRUE TRUE +ENSG00000080493.17 . BCM GRCh38.p13 chr4 71472882 71472882 + C C A Silent SNP ENST00000264485.11 exon14 c.C1815A p.I605I exonic ENSG00000080493.17 . synonymous SNV ENSG00000080493.17:ENST00000264485.11:exon14:c.C1815A:p.I605I 4q13.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC4A4 230 0 341 22 0.0606060606060606 TRUE TRUE +ENSG00000163312.11 . BCM GRCh38.p13 chr4 83453901 83453901 + A A G Silent SNP ENST00000295488.8 exon2 c.T342C p.F114F exonic ENSG00000163312.11 . synonymous SNV ENSG00000163312.11:ENST00000295488.8:exon2:c.T342C:p.F114F 4q21.23 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HELQ 30 0 138 9 0.0612244897959184 TRUE TRUE +ENSG00000164093.17 . BCM GRCh38.p13 chr4 110618599 110618599 + G G A Silent SNP ENST00000354925.6 exon7 c.C480T p.F160F exonic ENSG00000164093.17 . synonymous SNV ENSG00000164093.17:ENST00000354925.6:exon7:c.C480T:p.F160F 4q25 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PITX2 89 0 76 4 0.05 TRUE NA +ENSG00000069020.18 . BCM GRCh38.p13 chr5 67166406 67166406 + G G A Silent SNP ENST00000403625.6 exon29 c.G7227A p.G2409G exonic ENSG00000069020.18 . synonymous SNV ENSG00000069020.18:ENST00000403625.6:exon29:c.G7227A:p.G2409G 5q12.3 C3L-01288 1.177e-05 0 0 0 0 0 0.0015 0 rs777251926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAST4 78 1 70 33 0.320388349514563 TRUE NA +ENSG00000080802.18 . BCM GRCh38.p13 chr7 135395791 135395791 + G G A Silent SNP ENST00000315544.6 exon9 c.C972T p.S324S exonic ENSG00000080802.18 . synonymous SNV ENSG00000080802.18:ENST00000315544.6:exon9:c.C972T:p.S324S 7q33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNOT4 320 0 288 77 0.210958904109589 TRUE TRUE +ENSG00000170145.5 . BCM GRCh38.p13 chr11 111720605 111720605 + C C G Silent SNP ENST00000304987.4 exon11 c.C1623G p.A541A exonic ENSG00000170145.5 . synonymous SNV ENSG00000170145.5:ENST00000304987.4:exon11:c.C1623G:p.A541A 11q23.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIK2 239 0 136 46 0.252747252747253 TRUE TRUE +ENSG00000111642.16 . BCM GRCh38.p13 chr12 6583268 6583268 + G G C Silent SNP ENST00000544040.7 exon26 c.C3990G p.A1330A exonic ENSG00000111642.16;ENSG00000285238.2 . synonymous SNV ENSG00000111642.16:ENST00000544040.7:exon26:c.C3990G:p.A1330A,ENSG00000285238.2:ENST00000644480.2:exon26:c.C3969G:p.A1323A 12p13.31 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD4 153 0 155 34 0.17989417989418 TRUE TRUE +ENSG00000139624.14 . BCM GRCh38.p13 chr12 50167223 50167223 + C C T Silent SNP ENST00000317551.12 exon1 c.G75A p.E25E exonic ENSG00000139624.14 . synonymous SNV ENSG00000139624.14:ENST00000317551.12:exon1:c.G75A:p.E25E 12q13.12 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CERS5 203 0 121 18 0.129496402877698 TRUE TRUE +ENSG00000172819.17 . BCM GRCh38.p13 chr12 53215736 53215736 + A A G Silent SNP ENST00000425354.7 exon4 c.T243C p.P81P exonic ENSG00000172819.17 . synonymous SNV ENSG00000172819.17:ENST00000425354.7:exon4:c.T243C:p.P81P 12q13.13 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RARG 70 0 64 6 0.0857142857142857 NA TRUE +ENSG00000111275.13 . BCM GRCh38.p13 chr12 111790559 111790559 + G G A Silent SNP ENST00000261733.7 exon6 c.G678A p.K226K exonic ENSG00000111275.13;ENSG00000257767.3 . synonymous SNV ENSG00000111275.13:ENST00000261733.7:exon6:c.G678A:p.K226K 12q24.12 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALDH2 211 0 169 53 0.238738738738739 TRUE TRUE +ENSG00000158023.10 . BCM GRCh38.p13 chr12 121968125 121968125 + G G T Silent SNP ENST00000288912.9 exon17 c.G2727T p.A909A exonic ENSG00000158023.10 . synonymous SNV ENSG00000158023.10:ENST00000288912.9:exon17:c.G2727T:p.A909A 12q24.31 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR66 97 0 83 37 0.308333333333333 TRUE TRUE +ENSG00000157483.9 . BCM GRCh38.p13 chr15 59153715 59153715 + C C T Silent SNP ENST00000288235.9 exon26 c.G2955A p.Q985Q exonic ENSG00000157483.9 . synonymous SNV ENSG00000157483.9:ENST00000288235.9:exon26:c.G2955A:p.Q985Q 15q22.2 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO1E 485 1 341 102 0.230248306997743 TRUE TRUE +ENSG00000029725.17 . BCM GRCh38.p13 chr17 5373418 5373418 + G G A Silent SNP ENST00000537505.6 exon13 c.G1989A p.Q663Q exonic ENSG00000029725.17 . synonymous SNV ENSG00000029725.17:ENST00000537505.6:exon13:c.G1989A:p.Q663Q 17p13.2 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RABEP1 90 0 72 19 0.208791208791209 TRUE NA +ENSG00000189120.5 . BCM GRCh38.p13 chr17 47847347 47847347 + C C A Silent SNP ENST00000536300.2 exon2 c.G1083T p.G361G exonic ENSG00000189120.5 . synonymous SNV ENSG00000189120.5:ENST00000536300.2:exon2:c.G1083T:p.G361G 17q21.32 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SP6 143 0 115 9 0.0725806451612903 TRUE TRUE +ENSG00000182534.13 . BCM GRCh38.p13 chr17 76710644 76710644 + C C A Silent SNP ENST00000355797.7 exon1 c.G303T p.A101A exonic ENSG00000182534.13 . synonymous SNV ENSG00000182534.13:ENST00000355797.7:exon1:c.G303T:p.A101A 17q25.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MXRA7 80 0 43 3 0.0652173913043478 TRUE NA +ENSG00000131067.17 . BCM GRCh38.p13 chr20 34854617 34854617 + G G C Silent SNP ENST00000336431.10 exon10 c.C1233G p.T411T exonic ENSG00000131067.17 . synonymous SNV ENSG00000131067.17:ENST00000336431.10:exon10:c.C1233G:p.T411T 20q11.22 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GGT7 179 0 137 40 0.225988700564972 TRUE TRUE +ENSG00000196090.12 . BCM GRCh38.p13 chr20 42141976 42141976 + C C T Silent SNP ENST00000373187.5 exon18 c.G2709A p.S903S exonic ENSG00000196090.12 . synonymous SNV ENSG00000196090.12:ENST00000373187.5:exon18:c.G2709A:p.S903S 20q12 C3L-01288 4.14e-05 0 0 0.0001 0 4.495e-05 0 6.057e-05 rs764740415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRT 267 0 222 48 0.177777777777778 TRUE NA +ENSG00000124313.16 . BCM GRCh38.p13 chrX 53238230 53238230 + G G A Silent SNP ENST00000642864.1 exon12 c.C3192T p.P1064P exonic ENSG00000124313.16 . synonymous SNV ENSG00000124313.16:ENST00000642864.1:exon12:c.C3192T:p.P1064P Xp11.22 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IQSEC2 537 0 399 135 0.252808988764045 TRUE TRUE +ENSG00000122483.17 . BCM GRCh38.p13 chr1 93180779 93180779 + T T G Intron SNP NA NA NA NA intronic ENSG00000122483.17 . . . 1p22.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC18 251 0 166 49 0.227906976744186 TRUE NA +ENSG00000180438.15 . BCM GRCh38.p13 chr3 14064930 14064930 + C C G 3'Flank SNP NA NA NA NA downstream ENSG00000180438.15 dist=693 . . 3p25.1 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TPRXL 44 0 44 3 0.0638297872340425 TRUE NA +ENSG00000076242.16 . BCM GRCh38.p13 chr3 37050715 37050715 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000076242.16 ENST00000231790.8:c.*62T>C . . 3p22.2 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MLH1 79 0 200 12 0.0566037735849057 TRUE NA +ENSG00000242797.3 . BCM GRCh38.p13 chr3 52294472 52294472 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000242797.3 . . . 3p21.2 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLYCTK-AS1 26 0 27 3 0.1 TRUE NA +ENSG00000248449.2 . BCM GRCh38.p13 chr5 141427705 141427705 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000248449.2;ENSG00000279855.1 . . . 5q31.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGB8P 182 1 183 58 0.240663900414938 TRUE NA +ENSG00000164953.16 . BCM GRCh38.p13 chr8 93819081 93819081 + G G A 3'Flank SNP NA NA NA NA downstream ENSG00000164953.16 dist=960 . . 8q22.1 C3L-01288 9.294e-05 0 0 0 . 0.0004 0 0 rs758830937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM67 163 0 191 19 0.0904761904761905 TRUE NA +ENSG00000255559.1 . BCM GRCh38.p13 chr8 145003211 145003211 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255559.1 . . . 8q24.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF252P-AS1 245 0 205 90 0.305084745762712 TRUE NA +ENSG00000172159.16 . BCM GRCh38.p13 chr9 83267100 83267100 + G G A Intron SNP NA NA NA NA intronic ENSG00000172159.16 . . . 9q21.32 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRMD3 333 0 243 72 0.228571428571429 TRUE TRUE +ENSG00000117983.17 . BCM GRCh38.p13 chr11 1236382 1236382 + G G A Intron SNP NA NA NA NA intronic ENSG00000117983.17 . . . 11p15.5 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5B 95 0 71 20 0.21978021978022 TRUE NA +ENSG00000148926.10 . BCM GRCh38.p13 chr11 10306313 10306313 + C C A Intron SNP NA NA NA NA intronic ENSG00000148926.10 . . . 11p15.4 C3L-01288 . . . . . . . . . 3.14 D D . . . N . T N 0.222 T T D 0.075 0.485 0.239 . . . T T T T 0.397 5.389 0.713 N N -0.973 0.433 -1.187 0.294 1.000 0.583 0.541 0.474 0.250 . 5.580 -6.640 -0.221 -1.952 -0.780 0.000 0.000 0.000 570 . . . . ADM 85 0 60 9 0.130434782608696 TRUE TRUE +ENSG00000159403.18 . BCM GRCh38.p13 chr12 7091777 7091777 + G G C Intron SNP NA NA NA NA intronic ENSG00000159403.18 . . . 12p13.31 C3L-01288 . . . . . . . . . 0.15 T T B B . N . . N 0.078 T T . 0.117 0.501 0.014 . . T T T T T 0.150 2.576 0.761 N N -0.911 0.506 -0.992 0.500 1.000 0.403 0.542 0.468 0.563 . 3.920 0.815 -0.383 -0.292 0.676 0.000 0.000 0.001 624 . . . . C1R 286 0 193 47 0.195833333333333 TRUE TRUE +ENSG00000140105.18 . BCM GRCh38.p13 chr14 100368458 100368458 + G G T Intron SNP NA NA NA NA intronic ENSG00000140105.18 . . . 14q32.2 C3L-01288 . . . . . . . . . 0.6 . . . . . N . . . 0.098 . . . . . 0.068 . . . T T . T 0.769 9.089 0.666 N N . . . . 0.999 0.563 0.654 0.464 0.492 . 2.480 2.480 2.154 0.860 0.606 0.026 0.006 0.015 929 . . . . WARS1 187 0 108 47 0.303225806451613 TRUE TRUE +ENSG00000176715.17 . BCM GRCh38.p13 chr16 89098683 89098683 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000176715.17 ENST00000614302.5:c.-1999C>G . . 16q24.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACSF3 314 0 360 33 0.083969465648855 TRUE NA +ENSG00000225180.8 . BCM GRCh38.p13 chr17 81165569 81165569 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000225180.8 ENST00000637878.2:c.-15658G>A . . 17q25.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PVALEF 111 0 51 33 0.392857142857143 TRUE NA +ENSG00000197641.12 . BCM GRCh38.p13 chr18 63594177 63594177 + G G T Intron SNP NA NA NA NA intronic ENSG00000197641.12 . . . 18q21.33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINB13 344 2 291 89 0.234210526315789 TRUE NA +ENSG00000196569.12 . BCM GRCh38.p13 chr6 129190244 129190245 + GG GG AT Unknown MNP ENST00000421865.2 exon11 c.1507_1508delinsAT p.G503I exonic ENSG00000196569.12 . nonframeshift substitution ENSG00000196569.12:ENST00000421865.2:exon11:c.1507_1508delinsAT:p.G503I 6q22.33 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LAMA2 304 110 419 113 0.212406015037594 TRUE TRUE +ENSG00000197893.14 . BCM GRCh38.p13 chr10 113631947 113631948 + GC GC TT Unknown MNP ENST00000359988.4 exon17 c.1649_1650delinsAA p.G550E exonic ENSG00000197893.14 . nonframeshift substitution ENSG00000197893.14:ENST00000359988.4:exon17:c.1649_1650delinsAA:p.G550E 10q25.3 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRAP 171 39 163 43 0.20873786407767 TRUE TRUE +ENSG00000229807.12 . BCM GRCh38.p13 chrX 73849399 73849400 + GA GA TG Unknown MNP NA NA NA NA ncRNA_exonic ENSG00000229807.12 . . . Xq13.2 C3L-01288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIST 337 164 578 166 0.223118279569892 TRUE NA +ENSG00000122484.9 . BCM GRCh38.p13 chr1 92304343 92304343 + A A C Missense_Mutation SNP ENST00000610020.2 exon5 c.A393C p.E131D exonic ENSG00000122484.9 . nonsynonymous SNV ENSG00000122484.9:ENST00000610020.2:exon5:c.A393C:p.E131D 1p22.1 C3L-01302 . . . . . . . . . 7.16 . T D D D . M . . 0.634 T T T 0.308 0.526 0.809 0.417 T T T T D D 3.567 24.900 0.998 D N 0.515 5.157 0.446 4.704 0.639 0.732 0.744 0.659 0.714 . 5.610 3.330 2.021 1.312 0.691 1.000 1.000 1.000 610 Rtr1/RPAP2_domain . . . RPAP2 108 0 24 13 0.351351351351351 TRUE TRUE +ENSG00000117600.12 . BCM GRCh38.p13 chr1 99306662 99306662 + G G T Missense_Mutation SNP ENST00000370185.7 exon7 c.G1944T p.K648N exonic ENSG00000117600.12 . nonsynonymous SNV ENSG00000117600.12:ENST00000370185.7:exon7:c.G1944T:p.K648N 1p21.2 C3L-01302 . . . . . . . . . 6.19 D D B B N D . T N 0.278 T T T 0.034 0.265 0.103 1.062 T T T T D D 1.849 18.090 0.983 D N -0.548 1.083 -0.513 1.181 0.002 0.534 0.574 0.686 0.542 . 5.900 -3.410 0.204 -0.314 -0.119 0.951 0.998 0.996 793 . . . . PLPPR4 189 0 147 32 0.17877094972067 TRUE TRUE +ENSG00000197622.13 . BCM GRCh38.p13 chr1 151055045 151055045 + C C T Missense_Mutation SNP ENST00000357235.6 exon3 c.G136A p.E46K exonic ENSG00000197622.13 . nonsynonymous SNV ENSG00000197622.13:ENST00000357235.6:exon3:c.G136A:p.E46K 1q21.3 C3L-01302 . . . . . . . . . 12.18 D D B B D D . . D 0.664 T T T 0.311 0.415 0.391 0.680 D T D D D D 3.282 24.100 0.999 D D 0.284 3.697 0.443 4.676 1.000 0.672 0.698 0.702 0.711 . 5.650 5.650 5.720 1.018 0.592 1.000 1.000 0.998 120 . . . . CDC42SE1 144 0 142 32 0.183908045977011 TRUE TRUE +ENSG00000169509.6 . BCM GRCh38.p13 chr1 152515535 152515535 + G G A Missense_Mutation SNP ENST00000368790.4 exon2 c.G152A p.G51D exonic ENSG00000169509.6 . nonsynonymous SNV ENSG00000169509.6:ENST00000368790.4:exon2:c.G152A:p.G51D 1q21.3 C3L-01302 . . . . . . . . . 7.17 . D D P D N . T D 0.496 T T D 0.203 0.094 0.471 0.414 . T T T D T 2.970 23.400 0.797 D N 0.206 3.331 0.070 2.615 1.000 0.487 0.563 0.574 0.530 . 4.110 4.110 2.533 -0.140 0.654 1.000 0.001 0.001 714 . . . . CRCT1 219 0 247 43 0.148275862068966 TRUE TRUE +ENSG00000169231.13 . BCM GRCh38.p13 chr1 155202916 155202916 + G G - Frame_Shift_Del DEL ENST00000368378.7 exon8 c.853delC p.R285Efs*201 exonic ENSG00000169231.13 . frameshift deletion ENSG00000169231.13:ENST00000368378.7:exon8:c.853delC:p.R285Efs*201 1q22 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THBS3 151 0 110 25 0.185185185185185 TRUE TRUE +ENSG00000118193.12 . BCM GRCh38.p13 chr1 200553416 200553416 + - NA AAA In_Frame_Ins INS ENST00000367350.5 exon30 c.4918_4919insTTT p.E1639_C1640insF exonic ENSG00000118193.12 . nonframeshift insertion ENSG00000118193.12:ENST00000367350.5:exon30:c.4918_4919insTTT:p.E1639_C1640insF 1q32.1 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF14 NA NA NA NA NA NA NA +ENSG00000042781.14 . BCM GRCh38.p13 chr1 216323543 216323543 + T T C Missense_Mutation SNP ENST00000307340.8 exon8 c.A1481G p.Y494C exonic ENSG00000042781.14 . nonsynonymous SNV ENSG00000042781.14:ENST00000307340.8:exon8:c.A1481G:p.Y494C 1q41 C3L-01302 . . . . . . . . rs898430789 10.20 D D D D N D M T D 0.527 T T T 0.397 0.620 0.893 0.231 T T T T D T 3.455 24.600 0.998 D D 0.506 5.081 0.475 4.943 1.000 0.487 0.574 0.574 0.564 . 5.500 5.500 7.409 1.138 0.665 1.000 0.118 0.169 780 Laminin,_N-terminal . . . USH2A 413 0 140 28 0.166666666666667 TRUE NA +ENSG00000134313.16 . BCM GRCh38.p13 chr2 8747987 8747987 + G G C Missense_Mutation SNP ENST00000256707.8 exon25 c.C3428G p.P1143R exonic ENSG00000134313.16 . nonsynonymous SNV ENSG00000134313.16:ENST00000256707.8:exon25:c.C3428G:p.P1143R 2p25.1 C3L-01302 . . . . . . . . . 11.20 D T P B D D M T N 0.728 T T D 0.366 0.379 0.719 0.235 T T D D D D 2.820 23.100 0.996 D D 0.593 5.848 0.658 7.030 1.000 0.732 0.744 0.659 0.728 . 5.750 5.750 5.776 1.176 0.676 1.000 1.000 1.000 963 . . . . KIDINS220 86 0 51 17 0.25 TRUE TRUE +ENSG00000095002.15 . BCM GRCh38.p13 chr2 47466769 47466769 + C C T Missense_Mutation SNP ENST00000233146.7 exon10 c.C1622T p.T541I exonic ENSG00000095002.15 . nonsynonymous SNV ENSG00000095002.15:ENST00000233146.7:exon10:c.C1622T:p.T541I 2p21 C3L-01302 . . . . . . . . rs864622079 9.20 T T B B D N N D D 0.423 T T D 0.487 0.565 0.919 0.007 T D D D D T 2.057 19.690 0.980 D N -0.472 1.232 -0.312 1.539 0.003 0.745 0.744 0.725 0.762 . 6.040 3.290 3.440 1.022 0.596 0.997 0.996 0.985 934 DNA_mismatch_repair_protein_MutS,_clamp;DNA_mismatch_repair_protein_MutS,_core . . . MSH2 232 0 75 14 0.157303370786517 TRUE NA +ENSG00000135625.8 . BCM GRCh38.p13 chr2 73293381 73293381 + C C - Frame_Shift_Del DEL ENST00000545030.1 exon1 c.246delG p.P83Hfs*71 exonic ENSG00000135625.8 . frameshift deletion ENSG00000135625.8:ENST00000545030.1:exon1:c.246delG:p.P83Hfs*71 2p13.2 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EGR4 90 0 67 31 0.316326530612245 TRUE TRUE +ENSG00000211626.2 . BCM GRCh38.p13 chr2 90070200 90070200 + G G A Missense_Mutation SNP ENST00000390271.2 exon2 c.G307A p.A103T exonic ENSG00000211626.2 . nonsynonymous SNV ENSG00000211626.2:ENST00000390271.2:exon2:c.G307A:p.A103T 2p11.2 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV6D-41 186 0 130 21 0.139072847682119 TRUE NA +ENSG00000136535.15 . BCM GRCh38.p13 chr2 161417803 161417803 + T T G Missense_Mutation SNP ENST00000389554.8 exon2 c.T820G p.C274G exonic ENSG00000136535.15 . nonsynonymous SNV ENSG00000136535.15:ENST00000389554.8:exon2:c.T820G:p.C274G 2q24.2 C3L-01302 . . . . . . . . . 18.20 T D D D D D L D D 0.775 D D D 0.880 0.723 0.848 . D D D D D D 4.282 29.400 0.969 D D 0.660 6.591 0.680 7.386 1.000 0.598 0.563 0.596 0.527 . 5.340 5.340 7.948 1.138 0.665 1.000 1.000 1.000 699 . . . . TBR1 110 0 92 26 0.220338983050847 TRUE TRUE +ENSG00000163254.5 . BCM GRCh38.p13 chr2 208128266 208128266 + G G T Nonsense_Mutation SNP ENST00000282141.4 exon3 c.C462A p.C154X exonic ENSG00000163254.5 . stopgain ENSG00000163254.5:ENST00000282141.4:exon3:c.C462A:p.C154X 2q33.3 C3L-01302 . . . . . . . . . 4.6 . . . . N D . . . 0.524 . . . . . . . . . D D . . 6.480 36 0.992 D N 0.450 4.670 0.165 3.018 0.019 0.487 0.574 0.573 0.564 . 4.980 3.190 0.553 1.176 0.676 0.000 0.915 0.951 843 Beta/gamma_crystallin . . . CRYGC 248 0 201 61 0.232824427480916 TRUE TRUE +ENSG00000153820.13 . BCM GRCh38.p13 chr2 228017178 228017178 + G G A Missense_Mutation SNP ENST00000392056.8 exon7 c.C3676T p.P1226S exonic ENSG00000153820.13 . nonsynonymous SNV ENSG00000153820.13:ENST00000392056.8:exon7:c.C3676T:p.P1226S 2q36.3 C3L-01302 . . . . . . . . . 10.20 T T D P D D M T D 0.272 T T D 0.154 0.164 0.292 0.262 T T T T D D 2.586 22.600 0.998 D D 0.277 3.665 0.186 3.118 0.998 0.487 0.574 0.492 0.564 . 5.870 4.990 6.224 1.176 0.676 1.000 0.612 0.248 866 . . . ID=COSV104654701;OCCURENCE=2(skin) SPHKAP 115 0 84 33 0.282051282051282 TRUE NA +ENSG00000144677.15 . BCM GRCh38.p13 chr3 37947100 37947100 + C C A Missense_Mutation SNP ENST00000273179.10 exon2 c.C123A p.S41R exonic ENSG00000144677.15 . nonsynonymous SNV ENSG00000144677.15:ENST00000273179.10:exon2:c.C123A:p.S41R 3p22.2 C3L-01302 . . . . . . . . . 7.20 D T B B D D M T D 0.821 T T T 0.196 0.316 0.212 0.796 T T T T D T 1.839 18.020 0.994 D N -0.274 1.680 -0.178 1.839 1.000 0.706 0.574 0.710 0.669 . 5.340 1.470 1.249 0.096 0.599 1.000 0.998 0.999 664 . . . . CTDSPL 100 0 56 18 0.243243243243243 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52603626 52603626 + - NA G Frame_Shift_Ins INS ENST00000296302.11 exon17 c.2673dupC p.S892Qfs*9 exonic ENSG00000163939.18 . frameshift insertion ENSG00000163939.18:ENST00000296302.11:exon17:c.2673dupC:p.S892Qfs*9 3p21.1 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 NA NA NA NA NA NA NA +ENSG00000114127.10 . BCM GRCh38.p13 chr3 142357031 142357031 + A A C Missense_Mutation SNP ENST00000264951.8 exon31 c.T3553G p.L1185V exonic ENSG00000114127.10 . nonsynonymous SNV ENSG00000114127.10:ENST00000264951.8:exon31:c.T3553G:p.L1185V 3q23 C3L-01302 . . . . . . . . . 5.20 T T P P D D L T N 0.459 T T T 0.079 0.257 0.043 0.806 T T T T D D 2.377 22.000 0.997 D N 0.089 2.845 0.079 2.649 0.998 0.707 0.696 0.609 0.714 . 5.440 1.830 2.513 1.312 0.756 1.000 1.000 0.996 336 . . . . XRN1 456 0 303 72 0.192 TRUE TRUE +ENSG00000174137.12 . BCM GRCh38.p13 chr4 1655369 1655369 + C C A Missense_Mutation SNP ENST00000308132.10 exon4 c.G491T p.S164I exonic ENSG00000174137.12 . nonsynonymous SNV ENSG00000174137.12:ENST00000308132.10:exon4:c.G491T:p.S164I 4p16.3 C3L-01302 . . . . . . . . . 6.20 D D P B U N M T D 0.456 T T T 0.057 0.276 0.243 0.487 T T T T D T 1.092 12.690 0.982 D N -0.406 1.369 -0.549 1.124 0.975 0.554 0.588 0.576 0.568 . 3.470 2.600 2.748 -0.474 0.450 0.845 0.002 0.193 906 . . . . FAM53A 14 0 16 7 0.304347826086957 TRUE TRUE +ENSG00000170871.12 . BCM GRCh38.p13 chr4 6861541 6861541 + T T C Missense_Mutation SNP ENST00000307659.6 exon7 c.T1159C p.Y387H exonic ENSG00000170871.12 . nonsynonymous SNV ENSG00000170871.12:ENST00000307659.6:exon7:c.T1159C:p.Y387H 4p16.1 C3L-01302 . . . . . . . . . 0.19 T T B B N N N . N 0.130 T T T 0.026 0.282 0.043 0.232 T T T T T T -0.026 1.181 0.259 N N -1.075 0.329 -1.106 0.369 0.999 0.707 0.725 0.725 0.714 . 5.990 -1.000 0.882 0.206 -0.119 0.066 0.147 0.011 682 . . . . KIAA0232 303 0 160 27 0.144385026737968 TRUE TRUE +ENSG00000164362.21 . BCM GRCh38.p13 chr5 1279335 1279335 + G G A Missense_Mutation SNP ENST00000310581.10 exon5 c.C2086T p.R696C exonic ENSG00000164362.21 . nonsynonymous SNV ENSG00000164362.21:ENST00000310581.10:exon5:c.C2086T:p.R696C 5p15.33 C3L-01302 . . . . . . . . rs973201915 16.20 D D D D N D M D D 0.392 D D D 0.631 . 0.921 2.500 T D D D D D 3.425 24.500 0.994 N N 0.202 3.312 0.068 2.607 0.999 0.696 0.546 0.723 0.563 . 4.670 3.700 0.524 1.121 0.618 0.001 0.024 0.027 976 Reverse_transcriptase_domain . . ID=COSV57206668;OCCURENCE=1(oesophagus) TERT 167 0 199 31 0.134782608695652 TRUE TRUE +ENSG00000204427.12 . BCM GRCh38.p13 chr6 31687264 31687264 + G G A Missense_Mutation SNP ENST00000395952.8 exon20 c.C1625T p.T542I exonic ENSG00000204427.12 . nonsynonymous SNV ENSG00000204427.12:ENST00000395952.8:exon20:c.C1625T:p.T542I 6p21.33 C3L-01302 8.747e-06 0 0 0 0 1.595e-05 0 0 rs759878161 14.19 D D D D D D M . D 0.573 T T T 0.905 0.718 0.434 1.261 T T D D D D 3.990 26.900 0.999 D D 0.620 6.128 0.632 6.647 1.000 0.707 0.702 0.725 0.714 . 4.760 4.760 8.110 1.083 0.676 1.000 1.000 0.996 895 . . . . ABHD16A 154 0 145 16 0.0993788819875776 TRUE NA +ENSG00000204427.12 . BCM GRCh38.p13 chr6 31687271 31687271 + C C G Missense_Mutation SNP ENST00000395952.8 exon20 c.G1618C p.E540Q exonic ENSG00000204427.12 . nonsynonymous SNV ENSG00000204427.12:ENST00000395952.8:exon20:c.G1618C:p.E540Q 6p21.33 C3L-01302 . . . . . . . . . 7.19 D T P B N D M . N 0.378 T T T 0.129 0.603 0.222 1.411 T T T T D D 2.588 22.600 0.994 D D 0.381 4.228 0.385 4.252 1.000 0.707 0.702 0.725 0.714 . 4.760 3.870 6.429 0.947 0.599 1.000 0.990 0.975 895 . . . . ABHD16A 153 0 132 16 0.108108108108108 TRUE TRUE +ENSG00000204287.14 . BCM GRCh38.p13 chr6 32443827 32443827 + C C A Missense_Mutation SNP ENST00000395388.7 exon4 c.C682A p.L228M exonic ENSG00000204287.14 . nonsynonymous SNV ENSG00000204287.14:ENST00000395388.7:exon4:c.C682A:p.L228M 6p21.32 C3L-01302 . . . . . . . . . 7.18 D D D P D N . T N 0.351 T T T 0.169 0.365 0.231 1.351 T T T T D . 3.448 24.500 0.996 D D 0.535 5.316 0.458 4.799 1.000 0.628 0.672 0.653 0.530 . 5.360 3.560 1.162 1.018 0.539 0.995 1.000 0.981 929 . . . . HLA-DRA 75 0 74 12 0.13953488372093 TRUE TRUE +ENSG00000112139.16 . BCM GRCh38.p13 chr6 37652038 37652038 + C C T Missense_Mutation SNP ENST00000434837.8 exon7 c.G1285A p.V429I exonic ENSG00000112139.16 . nonsynonymous SNV ENSG00000112139.16:ENST00000434837.8:exon7:c.G1285A:p.V429I 6p21.2 C3L-01302 8.611e-05 0.0008 0.0001 0 0 0 0 7.493e-05 rs368627991 1.20 T T P B N D L T N 0.166 T T T 0.038 . 0.372 0.947 T T T T T T 0.554 7.059 0.443 N N -0.548 1.084 -0.537 1.143 0.908 0.549 0.610 0.577 0.616 . 4.640 1.750 0.709 0.138 0.599 0.130 0.155 0.979 899 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV51791947;OCCURENCE=2(thyroid),1(endometrium) MDGA1 58 0 62 14 0.184210526315789 TRUE TRUE +ENSG00000171611.10 . BCM GRCh38.p13 chr6 42925323 42925323 + T T - Frame_Shift_Del DEL ENST00000304672.6 exon4 c.487delT p.F163Lfs*5 exonic ENSG00000171611.10 . frameshift deletion ENSG00000171611.10:ENST00000304672.6:exon4:c.487delT:p.F163Lfs*5 6p21.1 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTCRA 338 0 295 94 0.241645244215938 TRUE TRUE +ENSG00000152894.14 . BCM GRCh38.p13 chr6 127976769 127976769 + T T G Missense_Mutation SNP ENST00000368215.7 exon27 c.A3854C p.Y1285S exonic ENSG00000152894.14 . nonsynonymous SNV ENSG00000152894.14:ENST00000368215.7:exon27:c.A3854C:p.Y1285S 6q22.33 C3L-01302 . . . . . . . . . 19.19 D D D D D D H D D 0.875 D D D 0.959 0.818 0.942 1.624 D D D D D . 4.472 32 0.992 D D 1.066 16.138 0.957 16.429 1.000 0.706 0.588 0.710 0.714 . 5.560 5.560 8.017 1.138 0.665 1.000 1.000 0.999 792 PTP_type_protein_phosphatase . . . PTPRK 148 0 86 24 0.218181818181818 TRUE TRUE +ENSG00000182095.14 . BCM GRCh38.p13 chr7 5325116 5325116 + C C T Missense_Mutation SNP ENST00000430969.5 exon20 c.G6280A p.G2094R exonic ENSG00000182095.14 . nonsynonymous SNV ENSG00000182095.14:ENST00000430969.5:exon20:c.G6280A:p.G2094R 7p22.1 C3L-01302 . . . . . . . . rs543731403 3.19 T T B B . N L T N 0.323 T T D 0.059 0.172 0.043 1.580 T T T T D T 2.317 21.700 0.998 D N -0.373 1.444 -0.210 1.761 0.001 0.563 0.577 0.576 0.636 . 4.260 4.260 3.224 0.922 0.520 0.998 0.997 0.808 940 . . . . TNRC18 189 0 177 76 0.300395256916996 TRUE NA +ENSG00000122585.8 . BCM GRCh38.p13 chr7 24285295 24285295 + C C T Missense_Mutation SNP ENST00000242152.7 exon2 c.C55T p.L19F exonic ENSG00000122585.8 . nonsynonymous SNV ENSG00000122585.8:ENST00000242152.7:exon2:c.C55T:p.L19F 7p15.3 C3L-01302 . . . . . . . . . 7.19 T T B B D D . T D 0.303 T T T 0.042 0.333 0.232 1.661 T D T T D T 2.146 20.500 0.999 D D 0.067 2.757 0.244 3.404 1.000 0.598 0.596 0.504 0.530 . 5.560 5.560 3.339 1.026 -0.173 1.000 1.000 0.992 915 . . . . NPY 250 0 334 21 0.0591549295774648 TRUE TRUE +ENSG00000091128.13 . BCM GRCh38.p13 chr7 108055767 108055767 + C C G Missense_Mutation SNP ENST00000388781.8 exon25 c.G3620C p.R1207T exonic ENSG00000091128.13 . nonsynonymous SNV ENSG00000091128.13:ENST00000388781.8:exon25:c.G3620C:p.R1207T 7q31.1 C3L-01302 . . . . . . . . . 1.20 T T B B N N L T N 0.172 T T T 0.029 0.344 0.055 0.093 T T T T T T 1.636 16.610 0.950 D N -0.213 1.840 -0.077 2.114 1.000 0.487 0.590 0.574 0.613 . 4.710 3.820 0.261 1.026 0.599 0.976 0.991 0.979 722 . . . . LAMB4 315 0 215 91 0.297385620915033 TRUE TRUE +ENSG00000127399.15 . BCM GRCh38.p13 chr7 150337034 150337034 + T T G Missense_Mutation SNP ENST00000359623.9 exon3 c.T173G p.L58R exonic ENSG00000127399.15 . nonsynonymous SNV ENSG00000127399.15:ENST00000359623.9:exon3:c.T173G:p.L58R 7q36.1 C3L-01302 8.392e-06 0 0 0 0 1.535e-05 0 0 rs779012504 17.20 D D D D D D H T D 0.953 D D D 0.605 0.794 0.793 0.923 T T D D D D 4.076 27.600 0.998 D D 0.846 9.743 0.721 8.156 1.000 0.722 0.702 0.699 0.580 . 4.970 4.970 5.480 1.137 0.664 1.000 0.996 0.991 940 . . . . LRRC61 300 0 325 69 0.175126903553299 TRUE NA +ENSG00000104728.16 . BCM GRCh38.p13 chr8 1885632 1885632 + T T A Missense_Mutation SNP ENST00000398564.5 exon11 c.T1182A p.N394K exonic ENSG00000104728.16 . nonsynonymous SNV ENSG00000104728.16:ENST00000398564.5:exon11:c.T1182A:p.N394K 8p23.3 C3L-01302 . . . . . . . . . 1.19 T T P B N N M T N 0.383 T T T 0.241 0.512 0.496 0.087 T T T T T . -0.122 0.747 0.274 N N -1.441 0.101 -1.559 0.087 0.948 0.732 0.588 0.744 0.714 . 5.120 -4.520 0.026 -0.196 -0.747 0.004 0.019 0.005 946 . . . . ARHGEF10 392 0 276 50 0.153374233128834 TRUE TRUE +ENSG00000104691.15 . BCM GRCh38.p13 chr8 30766246 30766246 + C C T Missense_Mutation SNP ENST00000265616.10 exon8 c.C665T p.T222M exonic ENSG00000104691.15 . nonsynonymous SNV ENSG00000104691.15:ENST00000265616.10:exon8:c.C665T:p.T222M 8p12 C3L-01302 6.653e-05 0 0.0002 0.0002 0 6.009e-05 0 0 rs201673016 0.7 . T . . . . . . . 0.222 . . . . . 0.095 . T T T T . T 0.781 9.201 0.683 N . . . . . 0.055 0.162 0.097 0.175 0.221 0.125 5.560 -5.000 -0.002 -0.265 -0.134 0.996 0.335 0.086 421 UBX_domain . . ID=COSV55665331;OCCURENCE=1(stomach) UBXN8 58 0 58 16 0.216216216216216 TRUE TRUE +ENSG00000137098.14 . BCM GRCh38.p13 chr9 35809979 35809979 + C C A Nonsense_Mutation SNP ENST00000396638.7 exon7 c.G1417T p.G473X exonic ENSG00000137098.14 . stopgain ENSG00000137098.14:ENST00000396638.7:exon7:c.G1417T:p.G473X 9p13.3 C3L-01302 . . . . . . . . . 1.6 . . . . . D . . . 0.175 . . . . . . . . . T T T . -0.057 1.018 0.930 N N -0.546 1.087 -0.632 0.999 0.764 0.554 0.602 0.602 0.568 . 5.210 1.150 -0.010 0.114 -0.313 0.004 0.125 0.021 124 . . . . SPAG8 25 0 23 6 0.206896551724138 TRUE TRUE +ENSG00000185972.6 . BCM GRCh38.p13 chr9 36169723 36169723 + C C A Missense_Mutation SNP ENST00000335119.4 exon1 c.C221A p.T74N exonic ENSG00000185972.6 . nonsynonymous SNV ENSG00000185972.6:ENST00000335119.4:exon1:c.C221A:p.T74N 9p13.3 C3L-01302 . . . . . . . . . 2.20 T T B B N N N T N 0.159 T T D 0.183 0.542 0.789 0.314 T T T T T T 1.250 14.020 0.802 D N -0.285 1.650 -0.067 2.142 1.000 0.554 0.590 0.547 0.568 . 5.560 5.560 2.017 1.026 0.599 0.966 0.993 0.686 427 BTB/POZ_domain . . . CCIN 495 1 349 94 0.212189616252822 TRUE TRUE +ENSG00000165238.16 . BCM GRCh38.p13 chr9 93258995 93258995 + C C A Missense_Mutation SNP ENST00000297954.8 exon11 c.C2447A p.A816D exonic ENSG00000165238.16 . nonsynonymous SNV ENSG00000165238.16:ENST00000297954.8:exon11:c.C2447A:p.A816D 9q22.31 C3L-01302 . . . . . . . . . 2.20 T T B B N N M T N 0.353 T T D 0.090 0.112 0.165 0.540 T T T T T T 0.557 7.086 0.836 N N -0.764 0.708 -0.846 0.693 0.947 0.696 0.590 0.723 0.613 . 5.010 1.680 0.958 0.122 -0.192 0.002 0.010 0.014 934 . . . . WNK2 117 0 101 8 0.073394495412844 TRUE TRUE +ENSG00000198730.9 . BCM GRCh38.p13 chr11 10775264 10775264 + A A - Frame_Shift_Del DEL ENST00000361367.7 exon23 c.2943delA p.K983Nfs*22 exonic ENSG00000198730.9 . frameshift deletion ENSG00000198730.9:ENST00000361367.7:exon23:c.2943delA:p.K983Nfs*22 11p15.4 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTR9 238 0 83 23 0.216981132075472 TRUE TRUE +ENSG00000174970.5 . BCM GRCh38.p13 chr11 55968407 55968407 + A A T Missense_Mutation SNP ENST00000312345.4 exon1 c.T57A p.F19L exonic ENSG00000174970.5 . nonsynonymous SNV ENSG00000174970.5:ENST00000312345.4:exon1:c.T57A:p.F19L 11q12.1 C3L-01302 . . . . . . . . . 7.20 D D P B D N M T D 0.487 T T T 0.125 0.641 0.340 0.073 T T T T D T 1.846 18.070 0.996 D N 0.064 2.748 0.031 2.470 0.012 0.487 0.574 0.547 0.564 . 5.380 5.380 0.203 0.933 0.551 0.012 0.029 0.127 161 . . . . OR10AG1 80 0 17 4 0.19047619047619 NA TRUE +ENSG00000109943.9 . BCM GRCh38.p13 chr11 122867489 122867489 + A A G Missense_Mutation SNP ENST00000227348.9 exon8 c.A898G p.I300V exonic ENSG00000109943.9 . nonsynonymous SNV ENSG00000109943.9:ENST00000227348.9:exon8:c.A898G:p.I300V 11q24.1 C3L-01302 8.26e-06 0 0 0 0 1.503e-05 0 0 rs147039129 1.20 T T B B N N M T N 0.118 T T T 0.035 . 0.179 0.060 T T T T T T 0.379 5.187 0.744 N N -0.857 0.575 -0.858 0.678 0.121 0.447 0.547 0.547 0.530 . 5.470 -0.842 0.089 1.312 0.756 0.000 0.998 0.997 899 . . . . CRTAM 149 0 90 18 0.166666666666667 TRUE NA +ENSG00000173157.17 . BCM GRCh38.p13 chr12 43377543 43377543 + A A G Missense_Mutation SNP ENST00000389420.8 exon32 c.T4817C p.F1606S exonic ENSG00000173157.17 . nonsynonymous SNV ENSG00000173157.17:ENST00000389420.8:exon32:c.T4817C:p.F1606S 12q12 C3L-01302 . . . . . . . . . 2.17 T T . . N N M T N 0.378 T T T 0.085 0.501 0.767 0.049 T . T T T T 2.232 21.100 0.946 D N -0.348 1.499 -0.266 1.637 0.000 0.554 0.574 0.618 0.542 . 5.080 3.940 2.984 1.312 0.756 0.839 0.947 0.953 812 . . . . ADAMTS20 81 0 61 4 0.0615384615384615 NA TRUE +ENSG00000122025.15 . BCM GRCh38.p13 chr13 28050103 28050103 + A A T Missense_Mutation SNP ENST00000241453.12 exon6 c.T734A p.F245Y exonic ENSG00000122025.15 . nonsynonymous SNV ENSG00000122025.15:ENST00000241453.12:exon6:c.T734A:p.F245Y 13q12.2 C3L-01302 . . . . . . . . . 4.20 T T B B D D N T N 0.290 T T D 0.187 0.653 0.672 0.138 T T T T T T 2.173 20.700 0.950 D N -0.323 1.559 -0.130 1.963 1.000 0.601 0.587 0.641 0.530 . 5.640 4.410 2.337 1.312 0.756 1.000 1.000 0.980 904 . . . . FLT3 124 0 57 12 0.173913043478261 TRUE TRUE +ENSG00000150893.11 . BCM GRCh38.p13 chr13 38687751 38687751 + T T C Missense_Mutation SNP ENST00000280481.9 exon1 c.T407C p.V136A exonic ENSG00000150893.11 . nonsynonymous SNV ENSG00000150893.11:ENST00000280481.9:exon1:c.T407C:p.V136A 13q13.3 C3L-01302 . . . . . . . . . 9.15 D D . . D D . T D 0.709 T T D 0.386 0.708 0.574 0.607 T . T T D . 4.394 31 0.998 D D 0.809 8.953 0.776 9.450 1.000 0.685 0.563 0.674 0.530 . 5.460 5.460 7.718 1.138 0.660 1.000 0.996 0.939 938 . . . . FREM2 15 0 14 4 0.222222222222222 TRUE TRUE +ENSG00000137815.14 . BCM GRCh38.p13 chr15 41417215 41417215 + C C T Missense_Mutation SNP ENST00000389629.8 exon1 c.C100T p.R34C exonic ENSG00000137815.14 . nonsynonymous SNV ENSG00000137815.14:ENST00000389629.8:exon1:c.C100T:p.R34C 15q15.1 C3L-01302 . . . . . . . . . 7.19 D D B B U D L . N 0.301 T T D 0.204 0.359 0.329 1.512 D T T T D T 3.614 25.100 0.997 D N -0.216 1.832 -0.059 2.168 1.000 0.442 0.522 0.522 0.373 . 3.910 3.910 2.002 1.011 0.594 1.000 1.000 0.983 165 . . . . RTF1 10 0 4 3 0.428571428571429 TRUE NA +ENSG00000140848.17 . BCM GRCh38.p13 chr16 57147569 57147569 + G G T Missense_Mutation SNP ENST00000290776.13 exon16 c.G1558T p.A520S exonic ENSG00000140848.17 . nonsynonymous SNV ENSG00000140848.17:ENST00000290776.13:exon16:c.G1558T:p.A520S 16q13 C3L-01302 . . . . . . . . . 7.20 D T P B D D L T N 0.648 T T T 0.260 0.715 0.271 0.523 T T T T D D 2.910 23.200 0.981 D D 0.154 3.104 0.158 2.986 1.000 0.731 0.269 0.750 0.649 . 4.970 4.000 9.573 1.176 0.676 1.000 0.996 0.997 862 Copine . . ID=COSV51963475;OCCURENCE=1(biliary_tract) CPNE2 72 0 57 17 0.22972972972973 TRUE TRUE +ENSG00000184060.11 . BCM GRCh38.p13 chr17 30949309 30949325 + CCCTCCGTGCAGCCCGT CCCTCCGTGCAGCCCGT - Frame_Shift_Del DEL ENST00000330889.8 exon7 c.680_696del p.L228Afs*9 exonic ENSG00000184060.11 . frameshift deletion ENSG00000184060.11:ENST00000330889.8:exon7:c.680_696del:p.L228Afs*9 17q11.2 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAP2 213 0 214 14 0.0614035087719298 TRUE TRUE +ENSG00000178691.11 . BCM GRCh38.p13 chr17 31998743 31998743 + C C G Missense_Mutation SNP ENST00000322652.10 exon16 c.C1960G p.R654G exonic ENSG00000178691.11 . nonsynonymous SNV ENSG00000178691.11:ENST00000322652.10:exon16:c.C1960G:p.R654G 17q11.2 C3L-01302 . . . . . . . . . 15.20 D D P P D D M T D 0.819 T T D 0.340 0.743 0.909 1.278 D D D D D D 3.764 25.700 0.908 D D 0.412 4.421 0.398 4.342 0.717 0.707 0.725 0.725 0.714 . 5.930 3.890 4.029 0.943 0.596 1.000 1.000 1.000 957 Polycomb_protein,_VEFS-Box . . . SUZ12 113 0 42 13 0.236363636363636 TRUE TRUE +ENSG00000228300.14 . BCM GRCh38.p13 chr19 1275747 1275747 + G G - Frame_Shift_Del DEL ENST00000409293.6 exon1 c.198delG p.G67Afs*4 exonic ENSG00000228300.14 . frameshift deletion ENSG00000228300.14:ENST00000409293.6:exon1:c.198delG:p.G67Afs*4 19p13.3 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM174C 219 0 232 48 0.171428571428571 TRUE TRUE +ENSG00000105289.15 . BCM GRCh38.p13 chr19 3730441 3730441 + T T A Missense_Mutation SNP ENST00000541714.7 exon5 c.T348A p.D116E exonic ENSG00000105289.15 . nonsynonymous SNV ENSG00000105289.15:ENST00000541714.7:exon5:c.T348A:p.D116E 19p13.3 C3L-01302 . . . . . . . . . 1.20 D T B B N N L T N 0.223 T T T 0.005 0.290 0.030 0.192 T T T T T T 0.366 5.047 0.921 N N -1.378 0.126 -1.481 0.115 0.001 0.696 0.547 0.723 0.563 . 2.770 -4.320 -0.922 -1.369 -0.219 0.000 0.002 0.031 970 . . . . TJP3 71 0 65 25 0.277777777777778 TRUE TRUE +ENSG00000089351.14 . BCM GRCh38.p13 chr19 35015892 35015892 + G G A Missense_Mutation SNP ENST00000317991.9 exon11 c.G1138A p.A380T exonic ENSG00000089351.14 . nonsynonymous SNV ENSG00000089351.14:ENST00000317991.9:exon11:c.G1138A:p.A380T 19q13.11 C3L-01302 . . . . . . . . rs948089718 8.19 D T D P D D . T N 0.388 T T T 0.150 0.390 0.147 0.736 T T T T D D 4.167 28.400 0.999 D D 0.489 4.948 0.503 5.182 1.000 0.672 0.702 0.702 0.711 . 5.140 5.140 9.617 1.176 0.676 1.000 0.231 0.897 878 VASt_domain . . ID=COSV58766283;OCCURENCE=1(large_intestine),1(central_nervous_system) GRAMD1A 158 0 164 35 0.175879396984925 TRUE TRUE +ENSG00000101220.18 . BCM GRCh38.p13 chr20 3754423 3754423 + C C T Missense_Mutation SNP ENST00000379772.4 exon5 c.G398A p.R133H exonic ENSG00000101220.18 . nonsynonymous SNV ENSG00000101220.18:ENST00000379772.4:exon5:c.G398A:p.R133H 20p13 C3L-01302 2.473e-05 0 0.0003 0 0 0 0 0 rs374709259 1.18 T D B B N N L . N 0.418 T T T 0.059 . 0.076 0.291 . T T T T T 1.646 16.670 0.997 N N -0.493 1.191 -0.375 1.418 0.882 0.732 0.744 0.644 0.728 . 4.820 3.860 0.165 1.026 0.599 0.028 0.496 0.150 779 . . . ID=COSV53923450;OCCURENCE=2(central_nervous_system) C20orf27 149 0 123 57 0.316666666666667 TRUE TRUE +ENSG00000125995.16 . BCM GRCh38.p13 chr20 35700851 35700851 + A A T Missense_Mutation SNP ENST00000374077.8 exon3 c.A185T p.Q62L exonic ENSG00000125995.16 . nonsynonymous SNV ENSG00000125995.16:ENST00000374077.8:exon3:c.A185T:p.Q62L 20q11.22 C3L-01302 8.237e-06 0 0 0 0 1.499e-05 0 0 rs757323572 10.19 T D B B D D . T D 0.818 T T D 0.338 0.802 0.322 1.128 T T D T D D 3.178 23.800 0.986 D D 0.151 3.094 0.301 3.720 1.000 0.722 0.686 0.644 0.735 . 4.820 4.820 9.055 1.308 0.744 1.000 1.000 1.000 360 . . . . ROMO1 269 0 283 51 0.152694610778443 TRUE NA +ENSG00000101144.13 . BCM GRCh38.p13 chr20 57202596 57202596 + G G T Missense_Mutation SNP ENST00000395863.8 exon3 c.C639A p.S213R exonic ENSG00000101144.13 . nonsynonymous SNV ENSG00000101144.13:ENST00000395863.8:exon3:c.C639A:p.S213R 20q13.31 C3L-01302 . . . . . . . . . 8.20 T T D P D D L T N 0.320 T T D 0.273 0.745 0.637 0.764 T D T T D D 1.665 16.800 0.981 D N 0.022 2.592 -0.000 2.359 0.536 0.706 0.590 0.710 0.613 . 4.780 1.250 -0.075 0.230 -0.106 0.762 0.997 0.948 934 TGF-beta,_propeptide . . . BMP7 192 0 197 45 0.18595041322314 TRUE TRUE +ENSG00000100129.18 . BCM GRCh38.p13 chr22 37878065 37878065 + T T G Missense_Mutation SNP ENST00000652021.1 exon11 c.T1469G p.L490R exonic ENSG00000100129.18 . nonsynonymous SNV ENSG00000100129.18:ENST00000652021.1:exon11:c.T1469G:p.L490R 22q13.1 C3L-01302 . . . . . . . . . 17.20 D D D D D D M T D 0.991 D T D 0.825 0.907 0.747 2.107 D T D D D D 4.356 30 0.998 D D 0.855 9.957 0.767 9.224 1.000 0.672 0.702 0.702 0.711 . 5.070 5.070 7.978 1.138 0.652 1.000 0.997 0.997 797 Proteasome_component_(PCI)_domain . . . EIF3L 271 1 225 32 0.124513618677043 NA TRUE +ENSG00000120280.6 . BCM GRCh38.p13 chrX 30559926 30559929 + AATC AATC - Frame_Shift_Del DEL ENST00000378962.4 exon3 c.427_430del p.D143Ffs*13 exonic ENSG00000120280.6 . frameshift deletion ENSG00000120280.6:ENST00000378962.4:exon3:c.427_430del:p.D143Ffs*13 Xp21.2 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CXorf21 167 0 78 23 0.227722772277228 TRUE TRUE +ENSG00000158352.15 . BCM GRCh38.p13 chrX 50608116 50608116 + G G A Missense_Mutation SNP ENST00000376020.6 exon6 c.C3026T p.A1009V exonic ENSG00000158352.15 . nonsynonymous SNV ENSG00000158352.15:ENST00000376020.6:exon6:c.C3026T:p.A1009V Xp11.22 C3L-01302 . . . . . . . . . 4.19 D D B B N N M T N 0.050 T T T 0.066 0.198 0.093 0.105 T T T T T T 1.726 17.210 0.804 D . . . . . 0.947 . . . . . 5.780 1.920 1.938 -0.290 -0.135 0.459 0.842 0.870 799 . . . . SHROOM4 297 0 249 45 0.153061224489796 TRUE TRUE +ENSG00000179083.6 . BCM GRCh38.p13 chrX 93709469 93709469 + C C A Missense_Mutation SNP ENST00000322139.4 exon3 c.C50A p.A17D exonic ENSG00000179083.6 . nonsynonymous SNV ENSG00000179083.6:ENST00000322139.4:exon3:c.C50A:p.A17D Xq21.32 C3L-01302 . . . . . . . . . 14.19 D D D D D N M T D 0.731 T T D 0.304 0.684 0.355 . D T D D D D 3.393 24.400 0.996 D . . . . . 0.022 . . . . . 3.270 3.270 4.102 0.947 0.597 1.000 1.000 0.998 987 . . . . FAM133A 92 0 52 21 0.287671232876712 TRUE TRUE +ENSG00000165194.15 . BCM GRCh38.p13 chrX 100407050 100407050 + G G C Nonsense_Mutation SNP ENST00000373034.8 exon1 c.C1548G p.Y516X exonic ENSG00000165194.15 . stopgain ENSG00000165194.15:ENST00000373034.8:exon1:c.C1548G:p.Y516X Xq22.1 C3L-01302 . . . . . . . . . 5.5 . . . . D A . . . 0.930 . . . . . . . . . D D . . 3.322 24.200 0.969 D . . . . . 1.000 . . . . . 5.810 -8.690 -0.025 -1.388 -1.331 0.505 0.286 0.843 167 Cadherin-like . . . PCDH19 480 0 504 95 0.158597662771285 TRUE TRUE +ENSG00000144619.15 . BCM GRCh38.p13 chr3 2866751 2866751 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000144619.15 ENST00000418658.6:exon8:c.455-1G>A . . 3p26.2 C3L-01302 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.311 35 0.995 D . 1.213 24.890 1.058 22.953 1.000 0.075 0.085 0.063 0.057 0.987 5.330 5.330 9.773 1.176 0.676 1.000 0.988 0.898 988 . . . . CNTN4 290 0 59 13 0.180555555555556 TRUE TRUE +ENSG00000162981.14 . BCM GRCh38.p13 chr2 14634708 14634708 + C C T Silent SNP ENST00000295092.3 exon2 c.C729T p.Y243Y exonic ENSG00000162981.14 . synonymous SNV ENSG00000162981.14:ENST00000295092.3:exon2:c.C729T:p.Y243Y 2p24.3 C3L-01302 1.438e-05 0 0 0 0 2.442e-05 0 0 rs753768386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRATD1 21 0 28 11 0.282051282051282 TRUE NA +ENSG00000145861.9 . BCM GRCh38.p13 chr5 160349291 160349291 + G G A Silent SNP ENST00000652664.2 exon3 c.C735T p.D245D exonic ENSG00000145861.9 . synonymous SNV ENSG00000145861.9:ENST00000652664.2:exon3:c.C735T:p.D245D 5q33.3 C3L-01302 4.119e-05 0 0 0 0 2.997e-05 0 0.0002 rs201096732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1QTNF2 290 0 248 114 0.314917127071823 TRUE NA +ENSG00000184428.13 . BCM GRCh38.p13 chr8 143316032 143316032 + C C T Silent SNP ENST00000329245.9 exon11 c.G1425A p.T475T exonic ENSG00000184428.13 . synonymous SNV ENSG00000184428.13:ENST00000329245.9:exon11:c.G1425A:p.T475T 8q24.3 C3L-01302 2.472e-05 9.617e-05 0 0 0 2.998e-05 0 0 rs201125639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOP1MT 251 0 217 56 0.205128205128205 TRUE NA +ENSG00000196422.11 . BCM GRCh38.p13 chr9 135487255 135487255 + C C A Silent SNP ENST00000356818.7 exon4 c.C2745A p.G915G exonic ENSG00000196422.11 . synonymous SNV ENSG00000196422.11:ENST00000356818.7:exon4:c.C2745A:p.G915G 9q34.3 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R26 29 0 35 3 0.0789473684210526 TRUE NA +ENSG00000178462.12 . BCM GRCh38.p13 chr10 5395327 5395327 + C C A Silent SNP ENST00000380419.8 exon3 c.G396T p.L132L exonic ENSG00000178462.12 . synonymous SNV ENSG00000178462.12:ENST00000380419.8:exon3:c.G396T:p.L132L 10p15.1 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TUBAL3 38 0 28 12 0.3 TRUE TRUE +ENSG00000154493.19 . BCM GRCh38.p13 chr10 126504318 126504318 + G G A Silent SNP ENST00000284694.11 exon3 c.C882T p.L294L exonic ENSG00000154493.19 . synonymous SNV ENSG00000154493.19:ENST00000284694.11:exon3:c.C882T:p.L294L 10q26.2 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C10orf90 335 0 271 77 0.221264367816092 TRUE TRUE +ENSG00000146521.10 . BCM GRCh38.p13 chr6 167790955 167790955 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000146521.10 . . . 6q27 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01558 148 0 114 22 0.161764705882353 TRUE NA +ENSG00000182648.13 . BCM GRCh38.p13 chr7 156640326 156640326 + A A T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000182648.13 . . . 7q36.3 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01006 128 0 108 50 0.316455696202532 TRUE NA +ENSG00000287969.1 . BCM GRCh38.p13 chr10 59362396 59362396 + - NA A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000287969.1 . . . 10q21.1 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL355474.1 NA NA NA NA NA NA NA +ENSG00000183242.11 . BCM GRCh38.p13 chr11 32438614 32438614 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000183242.11 . . . 11p13 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WT1-AS 457 0 383 110 0.223123732251521 TRUE NA +ENSG00000110911.16 . BCM GRCh38.p13 chr12 51026347 51026347 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000110911.16 ENST00000644495.1:c.-15619G>C . . 12q13.12 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC11A2 131 0 171 39 0.185714285714286 TRUE NA +ENSG00000103365.15 . BCM GRCh38.p13 chr16 23478567 23478567 + A A T Intron SNP NA NA NA NA intronic ENSG00000103365.15 . . . 16p12.2 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GGA2 64 0 59 20 0.253164556962025 TRUE NA +ENSG00000134780.10 . BCM GRCh38.p13 chr11 61741263 61741265 + GCA GCA ACT Unknown MNP ENST00000257215.10 exon19 c.2085_2087delinsACT p.Q696L exonic ENSG00000134780.10 . nonframeshift substitution ENSG00000134780.10:ENST00000257215.10:exon19:c.2085_2087delinsACT:p.Q696L 11q12.2 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DAGLA 206 31 168 33 0.164179104477612 TRUE NA +ENSG00000104972.15 . BCM GRCh38.p13 chr19 54633667 54633668 + AC AC TT Unknown MNP ENST00000427581.6 exon7 c.1399_1400delinsTT p.T467L exonic ENSG00000104972.15 . nonframeshift substitution ENSG00000104972.15:ENST00000427581.6:exon7:c.1399_1400delinsTT:p.T467L 19q13.42 C3L-01302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LILRB1 58 8 52 8 0.133333333333333 TRUE TRUE +ENSG00000132906.18 . BCM GRCh38.p13 chr1 15507878 15507878 + C C G Missense_Mutation SNP ENST00000333868.10 exon3 c.G448C p.D150H exonic ENSG00000132906.18 . nonsynonymous SNV ENSG00000132906.18:ENST00000333868.10:exon3:c.G448C:p.D150H 1p36.21 C3L-01313 . . . . . . . . . 4.20 D D B B N D L T D 0.121 T T T 0.035 0.432 0.392 0.145 T T T T T T 1.072 12.490 0.957 N N -0.726 0.770 -0.766 0.806 0.987 0.757 0.634 0.858 0.684 . 4.400 1.450 -0.188 0.966 0.530 0.022 0.586 0.285 917 . . . . CASP9 119 0 89 28 0.239316239316239 TRUE TRUE +ENSG00000134684.10 . BCM GRCh38.p13 chr1 32810715 32810715 + G G T Missense_Mutation SNP ENST00000373477.8 exon3 c.C256A p.P86T exonic ENSG00000134684.10 . nonsynonymous SNV ENSG00000134684.10:ENST00000373477.8:exon3:c.C256A:p.P86T 1p35.1 C3L-01313 . . . . . . . . . 13.20 T T D D D D L T D 0.855 T T D 0.590 0.456 0.879 1.111 D T D D D D 3.884 26.300 0.998 D D 0.826 9.305 0.824 10.868 1.000 0.672 0.702 0.698 0.711 . 5.370 5.370 9.602 1.176 0.676 1.000 0.823 0.991 282 . . . . YARS1 478 0 311 101 0.245145631067961 TRUE TRUE +ENSG00000142949.17 . BCM GRCh38.p13 chr1 43613632 43613632 + C C A Missense_Mutation SNP ENST00000359947.9 exon23 c.C3988A p.P1330T exonic ENSG00000142949.17 . nonsynonymous SNV ENSG00000142949.17:ENST00000359947.9:exon23:c.C3988A:p.P1330T 1p34.2 C3L-01313 . . . . . . . . . 16.20 D D D D N D M T D 0.854 T T D 0.395 0.534 0.671 1.030 D D D D D D 3.733 25.500 0.997 D D 0.735 7.637 0.657 7.025 1.000 0.707 0.610 0.725 0.714 . 5.100 5.100 7.905 1.022 0.596 1.000 0.992 0.915 614 . . . . PTPRF 165 0 128 74 0.366336633663366 TRUE TRUE +ENSG00000162378.13 . BCM GRCh38.p13 chr1 52784913 52784913 + T T A Missense_Mutation SNP ENST00000294353.7 exon5 c.T1129A p.L377M exonic ENSG00000162378.13 . nonsynonymous SNV ENSG00000162378.13:ENST00000294353.7:exon5:c.T1129A:p.L377M 1p32.3 C3L-01313 . . . . . . . . . 10.20 D D D D D D M T N 0.522 T T T 0.184 0.588 0.068 2.024 T T T T D D 3.551 24.900 0.996 D N 0.333 3.953 0.296 3.691 0.000 0.707 0.546 0.659 0.714 . 5.130 2.830 2.056 1.138 0.609 1.000 0.998 0.990 143 . . . . ZYG11B 250 0 138 47 0.254054054054054 TRUE TRUE +ENSG00000184313.20 . BCM GRCh38.p13 chr1 54692476 54692476 + G G T Nonsense_Mutation SNP ENST00000414150.6 exon16 c.G2764T p.E922X exonic ENSG00000184313.20;ENSG00000271723.5 . stopgain ENSG00000271723.5:ENST00000414150.6:exon16:c.G2764T:p.E922X,ENSG00000184313.20:ENST00000421030.7:exon16:c.G2764T:p.E922X 1p32.3 C3L-01313 . . . . . . . . . 4.6 . . . . N A . . . 0.378 . . . . . . . . . D D . . 8.690 44 0.998 D N 0.845 9.721 0.619 6.469 0.064 0.549 0.627 0.574 0.542 . 4.370 4.370 4.764 1.176 0.676 1.000 0.030 0.023 779 . . . . MROH7 172 0 105 33 0.239130434782609 TRUE TRUE +ENSG00000162688.17 . BCM GRCh38.p13 chr1 99916466 99916466 + T T C Missense_Mutation SNP ENST00000361915.8 exon32 c.T4316C p.L1439P exonic ENSG00000162688.17 . nonsynonymous SNV ENSG00000162688.17:ENST00000361915.8:exon32:c.T4316C:p.L1439P 1p21.2 C3L-01313 . . . . . . . . . 12.20 D D P P D D M T N 0.814 T T D 0.585 0.553 0.889 0.277 T T D D D D 4.079 27.600 0.999 D D 0.629 6.231 0.662 7.091 0.376 0.651 0.709 0.659 0.668 . 5.890 5.890 5.758 1.138 0.665 1.000 1.000 0.997 856 Glycogen_debranching_enzyme,_C-terminal . . ID=COSV54051479;OCCURENCE=1(endometrium) AGL 207 0 174 86 0.330769230769231 TRUE TRUE +ENSG00000162692.12 . BCM GRCh38.p13 chr1 100724794 100724794 + T T A Missense_Mutation SNP ENST00000294728.7 exon4 c.T832A p.L278I exonic ENSG00000162692.12 . nonsynonymous SNV ENSG00000162692.12:ENST00000294728.7:exon4:c.T832A:p.L278I 1p21.2 C3L-01313 . . . . . . . . . 6.20 T D D D N D N T N 0.292 T T D 0.188 0.509 0.790 0.694 T T T T D T 2.426 22.200 0.995 N N -0.167 1.971 -0.094 2.065 0.072 0.638 0.634 0.618 0.668 . 5.380 3.080 0.549 1.136 0.661 0.683 0.963 0.998 427 Immunoglobulin_subtype_2;Immunoglobulin_V-set_domain;Immunoglobulin;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . VCAM1 298 0 216 86 0.28476821192053 TRUE TRUE +ENSG00000116793.16 . BCM GRCh38.p13 chr1 113706115 113706115 + A A - Frame_Shift_Del DEL ENST00000369604.6 exon13 c.1446delT p.V483Sfs*5 exonic ENSG00000116793.16 . frameshift deletion ENSG00000116793.16:ENST00000369604.6:exon13:c.1446delT:p.V483Sfs*5 1p13.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHTF1 83 0 69 29 0.295918367346939 TRUE TRUE +ENSG00000131788.16 . BCM GRCh38.p13 chr1 145854517 145854517 + G G C Missense_Mutation SNP ENST00000393045.7 exon7 c.C851G p.T284S exonic ENSG00000131788.16 . nonsynonymous SNV ENSG00000131788.16:ENST00000393045.7:exon7:c.C851G:p.T284S 1q21.1 C3L-01313 . . . . . . . . rs200283710 1.7 T T . . . . . T N 0.141 . . . . . . . . T . . . T 1.919 18.630 . . D . . . . . . . . . . . . 3.910 1.164 0.662 0.983 1.000 0.993 . . . . . PIAS3 219 0 125 73 0.368686868686869 TRUE NA +ENSG00000152092.16 . BCM GRCh38.p13 chr1 177032701 177032701 + A A G Missense_Mutation SNP ENST00000361833.7 exon3 c.T620C p.V207A exonic ENSG00000152092.16 . nonsynonymous SNV ENSG00000152092.16:ENST00000361833.7:exon3:c.T620C:p.V207A 1q25.2 C3L-01313 . . . . . . . . . 10.20 D T D D D D L T N 0.936 T T T 0.349 0.179 0.266 0.295 D T D T D T 3.977 26.800 0.991 D D 0.631 6.249 0.674 7.292 1.000 0.638 0.590 0.653 0.564 . 5.620 5.620 9.280 1.312 0.756 1.000 0.950 0.920 862 . . . . ASTN1 164 0 145 43 0.228723404255319 TRUE TRUE +ENSG00000116747.12 . BCM GRCh38.p13 chr1 193076568 193076578 + CTAATTCAGTA CTAATTCAGTA - Nonsense_Mutation DEL ENST00000367446.7 exon4 c.869_879del p.N291* exonic ENSG00000116747.12 . stopgain ENSG00000116747.12:ENST00000367446.7:exon4:c.869_879del:p.N291* 1q31.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RO60 194 0 126 53 0.29608938547486 TRUE TRUE +ENSG00000116785.14 . BCM GRCh38.p13 chr1 196779923 196779923 + T T A Missense_Mutation SNP ENST00000367425.9 exon3 c.T380A p.V127D exonic ENSG00000116785.14 . nonsynonymous SNV ENSG00000116785.14:ENST00000367425.9:exon3:c.T380A:p.V127D 1q31.3 C3L-01313 . . . . . . . . . 9.19 D D D D . N M T D 0.274 T T D 0.176 0.659 0.592 0.512 T T T T D D 2.370 22.000 0.891 N N -0.150 2.021 -0.415 1.345 0.000 0.638 0.574 0.574 0.668 . 3.670 2.530 1.237 0.827 0.565 0.002 0.001 0.002 535 Sushi/SCR/CCP_domain . . . CFHR3 609 0 663 135 0.169172932330827 NA TRUE +ENSG00000184144.12 . BCM GRCh38.p13 chr1 205058193 205058193 + T T A Missense_Mutation SNP ENST00000331830.7 exon4 c.T228A p.N76K exonic ENSG00000184144.12 . nonsynonymous SNV ENSG00000184144.12:ENST00000331830.7:exon4:c.T228A:p.N76K 1q32.1 C3L-01313 . . . . . . . . . 12.20 D D D D D D M T D 0.791 D T D 0.324 0.787 0.503 1.365 T T T T D D 1.480 15.610 0.975 N N -0.954 0.455 -1.293 0.214 1.000 0.554 0.590 0.602 0.613 . 5.300 -10.600 -1.184 -0.659 -0.718 0.004 0.782 0.749 369 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . CNTN2 40 0 37 9 0.195652173913043 TRUE TRUE +ENSG00000143761.16 . BCM GRCh38.p13 chr1 228097154 228097154 + G G T Missense_Mutation SNP ENST00000272102.10 exon2 c.G40T p.G14C exonic ENSG00000143761.16 . nonsynonymous SNV ENSG00000143761.16:ENST00000272102.10:exon2:c.G40T:p.G14C 1q42.13 C3L-01313 . . . . . . . . . 16.20 D D P P N D M D D 0.700 D D D 0.742 0.596 0.967 3.194 D T D D D D 4.376 31 0.997 D D 0.930 11.861 0.890 13.320 1.000 0.672 0.698 0.644 0.711 . 5.550 5.550 8.050 1.176 0.618 1.000 1.000 0.999 707 . . . . ARF1 66 0 58 5 0.0793650793650794 TRUE NA +ENSG00000188739.15 . BCM GRCh38.p13 chr1 235131800 235131800 + A A - Frame_Shift_Del DEL ENST00000408888.8 exon11 c.1206delT p.F402Lfs*51 exonic ENSG00000188739.15 . frameshift deletion ENSG00000188739.15:ENST00000408888.8:exon11:c.1206delT:p.F402Lfs*51 1q42.3 C3L-01313 8.283e-06 0 0 0 0 0 0 6.057e-05 rs773410897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM34 140 0 199 50 0.200803212851406 TRUE NA +ENSG00000198626.17 . BCM GRCh38.p13 chr1 237469113 237469113 + G G A Missense_Mutation SNP ENST00000366574.7 exon17 c.G1634A p.R545H exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon17:c.G1634A:p.R545H 1q43 C3L-01313 . . . . . . . . . 14.19 T . D D U D L D D 0.478 D D D 0.777 0.808 0.895 1.210 T D D T D D 3.713 25.500 0.999 D D 0.570 5.628 0.576 5.931 0.845 0.554 0.574 0.618 0.564 . 4.940 4.940 7.641 1.172 0.676 1.000 1.000 1.000 958 RIH_domain . . . RYR2 139 0 176 36 0.169811320754717 TRUE TRUE +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32473217 32473219 + AGC AGC - In_Frame_Del DEL ENST00000421745.6 exon33 c.6698_6700del p.Q2234del exonic ENSG00000115760.14 . nonframeshift deletion ENSG00000115760.14:ENST00000421745.6:exon33:c.6698_6700del:p.Q2234del 2p22.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BIRC6 118 0 79 23 0.225490196078431 TRUE TRUE +ENSG00000135636.14 . BCM GRCh38.p13 chr2 71568305 71568305 + G G C Missense_Mutation SNP ENST00000258104.7 exon26 c.G2777C p.W926S exonic ENSG00000135636.14 . nonsynonymous SNV ENSG00000135636.14:ENST00000258104.7:exon26:c.G2777C:p.W926S 2p13.2 C3L-01313 . . . . . . . . . 19.20 D D D D D D M D D 0.968 D D D 0.844 0.805 0.987 0.827 T D D D D D 4.578 32 0.991 D D 0.891 10.812 0.828 10.993 1.000 0.707 0.590 0.659 0.714 . 4.950 4.950 9.763 1.176 0.676 1.000 1.000 0.990 462 Peroxin/Ferlin_domain . . . DYSF 158 0 99 48 0.326530612244898 TRUE TRUE +ENSG00000005436.14 . BCM GRCh38.p13 chr2 75690648 75690648 + C C T Missense_Mutation SNP ENST00000321027.8 exon8 c.G1216A p.E406K exonic ENSG00000005436.14 . nonsynonymous SNV ENSG00000005436.14:ENST00000321027.8:exon8:c.G1216A:p.E406K 2p12 C3L-01313 . . . . . . . . . 5.20 T T P P N D M T D 0.287 T T D 0.231 0.616 0.516 0.504 T T T T D T 3.525 24.800 0.999 N N 0.369 4.154 0.324 3.860 0.019 0.732 0.725 0.659 0.728 . 4.620 3.740 2.316 1.026 0.599 1.000 1.000 1.000 952 . . . . GCFC2 124 0 78 31 0.284403669724771 TRUE TRUE +ENSG00000168702.18 . BCM GRCh38.p13 chr2 141188442 141188442 + A A T Missense_Mutation SNP ENST00000389484.8 exon7 c.T992A p.I331K exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon7:c.T992A:p.I331K 2q22.1 C3L-01313 . . . . . . . . . 17.20 D D D P U D H D D 0.910 D D D 0.983 0.800 0.937 0.728 T D D D D D 3.874 26.200 0.967 D D 0.876 10.456 0.811 10.457 1.000 0.487 0.574 0.574 0.564 . 5.200 5.200 9.010 1.284 0.751 1.000 1.000 0.981 653 . . . . LRP1B 260 0 139 59 0.297979797979798 TRUE TRUE +ENSG00000178568.15 . BCM GRCh38.p13 chr2 211424292 211424292 + A A C Missense_Mutation SNP ENST00000342788.9 exon23 c.T2729G p.I910R exonic ENSG00000178568.15 . nonsynonymous SNV ENSG00000178568.15:ENST00000342788.9:exon23:c.T2729G:p.I910R 2q34 C3L-01313 . . . . . . . . . 16.20 D D D P D D M T D 0.908 T T D 0.697 0.761 0.917 1.318 D D D D D D 3.899 26.300 0.986 D D 0.732 7.592 0.768 9.244 1.000 0.487 0.574 0.574 0.613 . 6.050 6.050 9.325 1.312 0.756 1.000 1.000 0.961 477 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . ERBB4 204 1 203 80 0.282685512367491 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142127 10142127 + G G T Nonsense_Mutation SNP ENST00000256474.3 exon1 c.G280T p.E94X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon1:c.G280T:p.E94X 3p25.3 C3L-01313 . . . . . . . . rs5030829 4.6 . . . . N A . . . 0.579 . . . . . . . . . D D . . 7.869 40 0.996 D N 0.889 10.757 0.732 8.395 1.000 0.442 0.522 0.522 0.373 . 5.160 4.230 2.206 1.002 0.586 1.000 0.999 0.998 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543353;OCCURENCE=1(soft_tissue),6(kidney),1(skin) VHL 446 0 134 126 0.484615384615385 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52408575 52408575 + A A C Missense_Mutation SNP ENST00000460680.6 exon4 c.T154G p.W52G exonic ENSG00000163930.10 . nonsynonymous SNV ENSG00000163930.10:ENST00000460680.6:exon4:c.T154G:p.W52G 3p21.1 C3L-01313 . . . . . . . . . 17.20 D D D D D D H T D 0.925 D T D 0.772 0.879 0.839 3.414 D T D D D D 4.932 33 0.979 D D 0.998 13.850 0.916 14.461 1.000 0.722 0.663 0.663 0.735 . 5.430 5.430 9.279 1.312 0.756 1.000 1.000 1.000 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . . BAP1 185 0 66 62 0.484375 TRUE TRUE +ENSG00000255154.7 . BCM GRCh38.p13 chr3 58317857 58317857 + A A G Missense_Mutation SNP ENST00000477305.5 exon6 c.A244G p.I82V exonic ENSG00000255154.7 . nonsynonymous SNV ENSG00000255154.7:ENST00000477305.5:exon6:c.A244G:p.I82V 3p14.3 C3L-01313 0.0013 0 0 0 0 0 0 0.0021 rs556885667 1.15 . T B B . D . . . 0.090 T T T 0.125 . 0.194 . T T T T T T 0.881 10.230 0.925 N N -0.721 0.777 -0.652 0.969 0.987 0.707 0.725 0.702 0.714 . 5.920 0.797 0.474 0.321 -0.052 0.040 1.000 0.997 447 MaoC-like_dehydratase_domain . . . HTD2 183 0 65 70 0.518518518518518 TRUE NA +ENSG00000154174.8 . BCM GRCh38.p13 chr3 100368161 100368161 + A A G Missense_Mutation SNP ENST00000284320.6 exon11 c.T1556C p.L519P exonic ENSG00000154174.8 . nonsynonymous SNV ENSG00000154174.8:ENST00000284320.6:exon11:c.T1556C:p.L519P 3q12.2 C3L-01313 . . . . . . . . . 17.20 D D D D D D M T D 0.963 D T D 0.705 0.721 0.208 1.909 D T D D D D 4.444 31 0.999 D D 0.933 11.932 0.896 13.589 1.000 0.707 0.725 0.702 0.714 . 5.880 5.880 8.947 1.312 0.756 1.000 1.000 0.999 479 Tetratricopeptide_repeat-containing_domain . . . TOMM70 84 0 73 46 0.38655462184874 TRUE TRUE +ENSG00000118017.4 . BCM GRCh38.p13 chr3 138124618 138124618 + - NA TG Frame_Shift_Ins INS ENST00000236709.4 exon3 c.668_669insCA p.Q223Hfs*6 exonic ENSG00000118017.4 . frameshift insertion ENSG00000118017.4:ENST00000236709.4:exon3:c.668_669insCA:p.Q223Hfs*6 3q22.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . A4GNT NA NA NA NA NA NA NA +ENSG00000053900.10 . BCM GRCh38.p13 chr4 25417635 25417635 + G G A Missense_Mutation SNP ENST00000315368.7 exon28 c.G2095A p.A699T exonic ENSG00000053900.10 . nonsynonymous SNV ENSG00000053900.10:ENST00000315368.7:exon28:c.G2095A:p.A699T 4p15.2 C3L-01313 . . . . . . . . . 0.20 T T B B N N N T N 0.077 T T T 0.029 0.252 0.567 0.494 T T T T T T 1.228 13.850 0.940 N N -0.680 0.846 -0.567 1.096 0.611 0.707 0.725 0.725 0.714 . 5.430 3.650 1.679 0.245 0.665 0.130 0.821 0.910 603 . . . . ANAPC4 73 0 76 8 0.0952380952380952 TRUE TRUE +ENSG00000174799.11 . BCM GRCh38.p13 chr4 55957327 55957327 + C C T Missense_Mutation SNP ENST00000257287.5 exon5 c.C577T p.P193S exonic ENSG00000174799.11 . nonsynonymous SNV ENSG00000174799.11:ENST00000257287.5:exon5:c.C577T:p.P193S 4q12 C3L-01313 . . . . . . . . . 12.20 D D D D D D M T D 0.647 T T T 0.329 0.232 0.733 0.373 T T T T D D 3.649 25.200 0.999 D D 0.768 8.181 0.747 8.735 1.000 0.563 0.654 0.609 0.636 . 5.340 5.340 7.831 1.026 0.599 1.000 0.994 0.956 762 . . . . CEP135 163 0 124 61 0.32972972972973 TRUE TRUE +ENSG00000163631.17 . BCM GRCh38.p13 chr4 73406712 73406712 + C C T Missense_Mutation SNP ENST00000295897.9 exon3 c.C221T p.A74V exonic ENSG00000163631.17 . nonsynonymous SNV ENSG00000163631.17:ENST00000295897.9:exon3:c.C221T:p.A74V 4q13.3 C3L-01313 . . . . . . . . . 17.20 D D D D D D M T D 0.797 D D D 0.699 0.567 0.791 0.799 T T D D D D 4.002 27.000 0.999 D D 0.796 8.694 0.763 9.114 1.000 0.516 0.574 0.547 0.586 . 5.440 5.440 4.944 1.019 0.591 1.000 0.997 0.997 811 Serum_albumin,_N-terminal . . . ALB 189 0 150 50 0.25 TRUE TRUE +ENSG00000151726.14 . BCM GRCh38.p13 chr4 184765928 184765928 + G G T Missense_Mutation SNP ENST00000515030.5 exon14 c.C1322A p.T441N exonic ENSG00000151726.14 . nonsynonymous SNV ENSG00000151726.14:ENST00000515030.5:exon14:c.C1322A:p.T441N 4q35.1 C3L-01313 . . . . . . . . . 4.20 T T B B D D N T N 0.342 T T T 0.061 0.447 0.450 0.358 T T T T T T 2.009 19.320 0.952 D D -0.194 1.895 0.030 2.466 1.000 0.707 0.702 0.673 0.714 . 5.230 5.230 3.154 1.083 0.676 1.000 0.948 0.897 963 AMP-dependent_synthetase/ligase . . . ACSL1 166 0 77 31 0.287037037037037 TRUE TRUE +ENSG00000145703.16 . BCM GRCh38.p13 chr5 76683821 76683821 + T T C Missense_Mutation SNP ENST00000274364.11 exon30 c.T3809C p.L1270P exonic ENSG00000145703.16 . nonsynonymous SNV ENSG00000145703.16:ENST00000274364.11:exon30:c.T3809C:p.L1270P 5q13.3 C3L-01313 . . . . . . . . . 16.20 D D D D D D M T D 0.897 T T D 0.436 0.626 0.706 0.879 T D D D D D 3.916 26.400 0.998 D D 0.468 4.799 0.320 3.835 1.000 0.706 0.710 0.710 0.620 . 5.660 4.450 5.674 1.138 0.665 1.000 0.422 0.317 860 . . . . IQGAP2 144 0 107 96 0.472906403940887 TRUE TRUE +ENSG00000253305.2 . BCM GRCh38.p13 chr5 141409961 141409961 + C C A Missense_Mutation SNP ENST00000520790.1 exon1 c.C1759A p.L587I exonic ENSG00000253305.2 . nonsynonymous SNV ENSG00000253305.2:ENST00000520790.1:exon1:c.C1759A:p.L587I 5q31.3 C3L-01313 . . . . . . . . . 10.18 D D D D . D M T N 0.436 T T D 0.315 0.687 0.737 1.278 . T T T D D 2.891 23.200 0.994 D N 0.179 3.211 0.005 2.376 0.991 0.660 0.610 0.696 0.616 . 5.180 0.898 0.292 0.962 0.524 0.296 0.989 0.855 814 Cadherin-like . . . PCDHGB6 320 0 368 96 0.206896551724138 TRUE TRUE +ENSG00000124787.14 . BCM GRCh38.p13 chr6 5002161 5002161 + T T A Nonsense_Mutation SNP ENST00000380051.7 exon2 c.A208T p.K70X exonic ENSG00000124787.14 . stopgain ENSG00000124787.14:ENST00000380051.7:exon2:c.A208T:p.K70X 6p25.1 C3L-01313 . . . . . . . . . 5.6 . . . . D A . . . 0.436 . . . . . . . . . D D . . 7.575 38 0.996 D N 0.758 8.019 0.631 6.633 1.000 0.732 0.744 0.659 0.714 . 5.350 5.350 3.030 1.138 0.665 1.000 1.000 0.996 958 . . . . RPP40 143 0 92 41 0.308270676691729 TRUE TRUE +ENSG00000096654.15 . BCM GRCh38.p13 chr6 27452759 27452759 + T T A Missense_Mutation SNP ENST00000211936.10 exon6 c.A800T p.N267I exonic ENSG00000096654.15 . nonsynonymous SNV ENSG00000096654.15:ENST00000211936.10:exon6:c.A800T:p.N267I 6p22.1 C3L-01313 . . . . . . . . . 3.20 T T B B D N N T D 0.531 T T T 0.155 0.327 0.276 1.483 T T T T D T 1.822 17.890 0.991 N N -0.445 1.287 -0.309 1.545 0.929 0.566 0.654 0.609 0.674 . 4.990 4.990 -1.165 1.059 0.515 0.000 1.000 0.997 568 Zinc_finger_C2H2-type . . . ZNF184 149 0 105 50 0.32258064516129 TRUE TRUE +ENSG00000168477.19 . BCM GRCh38.p13 chr6 32096432 32096432 + C C T Missense_Mutation SNP ENST00000644971.2 exon3 c.G1421A p.G474D exonic ENSG00000168477.19 . nonsynonymous SNV ENSG00000168477.19:ENST00000644971.2:exon3:c.G1421A:p.G474D 6p21.33 C3L-01313 . . . . . . . . . 14.17 D D . . D D . T D 0.672 T T D 0.551 0.823 0.355 . D D D D D D 3.665 25.300 0.998 D D 0.728 7.528 0.522 5.362 1.000 0.583 0.541 0.616 0.563 . 4.260 4.260 5.792 1.021 0.545 1.000 0.389 0.771 906 EGF-like_domain . . . TNXB 128 0 77 39 0.336206896551724 TRUE TRUE +ENSG00000204256.13 . BCM GRCh38.p13 chr6 32977461 32977461 + A A G Missense_Mutation SNP ENST00000374825.9 exon8 c.A1220G p.D407G exonic ENSG00000204256.13 . nonsynonymous SNV ENSG00000204256.13:ENST00000374825.9:exon8:c.A1220G:p.D407G 6p21.32 C3L-01313 . . . . . . . . . 8.20 D D P P D D L T D 0.452 T T T 0.374 0.510 0.629 . T T T T D T 4.436 31 0.898 D D 0.339 3.989 0.462 4.831 1.000 0.672 0.672 0.702 0.711 . 5.250 5.250 9.309 1.301 0.743 1.000 1.000 0.999 900 Bromodomain,_conserved_site;Bromodomain . . . BRD2 198 0 102 42 0.291666666666667 TRUE TRUE +ENSG00000188994.13 . BCM GRCh38.p13 chr6 87216319 87216319 + T T C Missense_Mutation SNP ENST00000369577.8 exon3 c.T344C p.L115P exonic ENSG00000188994.13 . nonsynonymous SNV ENSG00000188994.13:ENST00000369577.8:exon3:c.T344C:p.L115P 6q14.3 C3L-01313 . . . . . . . . . 14.19 D D D D . D M T D 0.905 T T D 0.569 0.554 0.859 . T T D D D D 4.118 27.900 0.999 D D 0.733 7.604 0.694 7.638 1.000 0.651 0.709 0.651 0.684 . 5.320 5.320 6.927 1.138 0.665 0.969 0.997 0.973 824 . . . . ZNF292 132 0 113 52 0.315151515151515 TRUE TRUE +ENSG00000074771.4 . BCM GRCh38.p13 chr6 155411230 155411230 + C C G Missense_Mutation SNP ENST00000159060.3 exon11 c.G1439C p.G480A exonic ENSG00000074771.4 . nonsynonymous SNV ENSG00000074771.4:ENST00000159060.3:exon11:c.G1439C:p.G480A 6q25.3 C3L-01313 . . . . . . . . . 6.20 D T B B N N L T D 0.525 T T T 0.130 0.615 0.826 0.183 T D T T D D 2.563 22.600 0.995 D N 0.051 2.698 0.164 3.013 0.668 0.487 0.574 0.547 0.564 . 5.830 3.950 2.824 1.026 0.599 0.995 0.997 0.996 940 Ferric_reductase,_NAD_binding_domain . . . NOX3 74 0 64 35 0.353535353535354 TRUE TRUE +ENSG00000074771.4 . BCM GRCh38.p13 chr6 155411233 155411233 + G G A Missense_Mutation SNP ENST00000159060.3 exon11 c.C1436T p.T479I exonic ENSG00000074771.4 . nonsynonymous SNV ENSG00000074771.4:ENST00000159060.3:exon11:c.C1436T:p.T479I 6q25.3 C3L-01313 . . . . . . . . . 19.20 D D D D D D H D D 0.975 D D D 0.940 0.869 0.987 0.353 T D D D D D 4.155 28.200 0.999 D D 1.108 17.874 1.028 20.671 1.000 0.487 0.574 0.547 0.564 . 5.830 5.830 9.059 1.176 0.676 1.000 0.993 0.990 940 Ferric_reductase,_NAD_binding_domain . . ID=COSV50158116;OCCURENCE=1(skin) NOX3 79 0 69 40 0.36697247706422 TRUE TRUE +ENSG00000106415.13 . BCM GRCh38.p13 chr7 8022516 8022516 + A A C Missense_Mutation SNP ENST00000223145.10 exon3 c.A643C p.K215Q exonic ENSG00000106415.13 . nonsynonymous SNV ENSG00000106415.13:ENST00000223145.10:exon3:c.A643C:p.K215Q 7p21.3 C3L-01313 . . . . . . . . . 8.19 T D D D N D L . N 0.315 T T T 0.092 0.202 0.448 0.383 T T T T D D 3.104 23.600 0.987 D D 0.551 5.456 0.550 5.651 0.994 0.706 0.725 0.710 0.668 . 4.960 4.960 4.451 1.308 0.756 1.000 0.998 0.997 772 . . . . GLCCI1 204 0 172 68 0.283333333333333 TRUE TRUE +ENSG00000188732.11 . BCM GRCh38.p13 chr7 23698194 23698202 + GTACCTTCA GTACCTTCA - In_Frame_Del DEL ENST00000344962.9 exon5 c.640_648del p.P215_V217del exonic ENSG00000188732.11 . nonframeshift deletion ENSG00000188732.11:ENST00000344962.9:exon5:c.640_648del:p.P215_V217del 7p15.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM221A 139 0 100 8 0.0740740740740741 TRUE TRUE +ENSG00000132436.11 . BCM GRCh38.p13 chr7 50447240 50447240 + C C A Missense_Mutation SNP ENST00000419119.1 exon2 c.G48T p.K16N exonic ENSG00000132436.11 . nonsynonymous SNV ENSG00000132436.11:ENST00000419119.1:exon2:c.G48T:p.K16N 7p12.2 C3L-01313 . . . . . . . . . 11.20 D D D P D D M T D 0.597 T T T 0.102 0.341 0.216 0.102 T T T T D D 3.181 23.800 0.998 D D 0.266 3.608 0.273 3.563 1.000 0.706 0.663 0.710 0.635 . 5.360 4.490 2.013 0.130 -0.187 1.000 0.999 0.982 762 . . . ID=COSV100794887;OCCURENCE=1(stomach) FIGNL1 88 0 94 5 0.0505050505050505 TRUE TRUE +ENSG00000189056.14 . BCM GRCh38.p13 chr7 103611699 103611699 + C C T Missense_Mutation SNP ENST00000428762.6 exon21 c.G2807A p.C936Y exonic ENSG00000189056.14 . nonsynonymous SNV ENSG00000189056.14:ENST00000428762.6:exon21:c.G2807A:p.C936Y 7q22.1 C3L-01313 . . . . . . . . . 16.20 D D D D D D M T D 0.963 T T D 0.657 0.696 0.602 0.747 T D D D D D 3.933 26.500 0.998 D D 0.882 10.591 0.872 12.595 1.000 0.638 0.574 0.574 0.668 . 5.820 5.820 7.520 1.026 0.599 1.000 0.999 0.998 905 . . . ID=COSV100633613;OCCURENCE=1(endometrium) RELN 164 0 184 69 0.272727272727273 TRUE TRUE +ENSG00000176595.4 . BCM GRCh38.p13 chr8 2002706 2002706 + T T G Missense_Mutation SNP ENST00000320248.4 exon2 c.T1514G p.F505C exonic ENSG00000176595.4 . nonsynonymous SNV ENSG00000176595.4:ENST00000320248.4:exon2:c.T1514G:p.F505C 8p23.3 C3L-01313 . . . . . . . . . 14.19 D D D D D D M T D 0.744 T T D 0.359 0.716 0.496 2.597 D T D T D . 3.854 26.100 0.983 D D 0.408 4.394 0.267 3.528 1.000 0.765 0.547 0.732 0.639 . 4.610 3.450 5.409 0.988 0.636 1.000 0.810 0.655 964 . . . . KBTBD11 46 0 23 17 0.425 TRUE TRUE +ENSG00000215343.7 . BCM GRCh38.p13 chr8 12113080 12113089 + AATAATTCAC AATAATTCAC - Frame_Shift_Del DEL ENST00000400085.7 exon6 c.825_834del p.I276Lfs*62 exonic ENSG00000215343.7 . frameshift deletion ENSG00000215343.7:ENST00000400085.7:exon6:c.825_834del:p.I276Lfs*62 8p23.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF705D 271 0 152 70 0.315315315315315 NA TRUE +ENSG00000173137.12 . BCM GRCh38.p13 chr8 144391941 144391950 + ATAGCAGAAA ATAGCAGAAA - Frame_Shift_Del DEL ENST00000308860.11 exon10 c.1015_1024del p.I339Sfs*71 exonic ENSG00000173137.12 . frameshift deletion ENSG00000173137.12:ENST00000308860.11:exon10:c.1015_1024del:p.I339Sfs*71 8q24.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADCK5 402 0 240 187 0.437939110070258 TRUE TRUE +ENSG00000130560.9 . BCM GRCh38.p13 chr9 135946295 135946295 + G G A Missense_Mutation SNP ENST00000371756.4 exon5 c.C518T p.A173V exonic ENSG00000130560.9 . nonsynonymous SNV ENSG00000130560.9:ENST00000371756.4:exon5:c.C518T:p.A173V 9q34.3 C3L-01313 1.648e-05 0 8.637e-05 0.0001 0 0 0 0 rs771410214 10.20 T D P P D D M T N 0.861 T T D 0.281 0.368 0.198 0.747 D T T T D D 4.023 27.100 0.999 D D 0.405 4.372 0.315 3.803 1.000 0.707 0.725 0.725 0.714 . 5.110 5.110 9.096 1.176 0.676 1.000 0.308 0.565 779 . . . . UBAC1 188 0 103 30 0.225563909774436 TRUE NA +ENSG00000148498.16 . BCM GRCh38.p13 chr10 34382784 34382784 + G G T Missense_Mutation SNP ENST00000374789.8 exon9 c.C1155A p.D385E exonic ENSG00000148498.16 . nonsynonymous SNV ENSG00000148498.16:ENST00000374789.8:exon9:c.C1155A:p.D385E 10p11.21 C3L-01313 . . . . . . . . . 6.20 T T D D D D M T N 0.332 T T T 0.081 0.227 0.646 0.391 T T T T T T 1.626 16.540 0.993 D N 0.030 2.620 0.113 2.787 1.000 0.707 0.634 0.725 0.714 . 5.870 4.020 1.003 1.176 0.676 1.000 0.996 0.942 858 . . . . PARD3 355 0 161 49 0.233333333333333 TRUE TRUE +ENSG00000096717.12 . BCM GRCh38.p13 chr10 67912717 67912717 + T T - Frame_Shift_Del DEL ENST00000212015.11 exon8 c.1601delT p.S535Qfs*17 exonic ENSG00000096717.12 . frameshift deletion ENSG00000096717.12:ENST00000212015.11:exon8:c.1601delT:p.S535Qfs*17 10q21.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIRT1 308 0 228 75 0.247524752475248 TRUE TRUE +ENSG00000119943.13 . BCM GRCh38.p13 chr10 98383815 98383815 + C C T Missense_Mutation SNP ENST00000370575.5 exon16 c.G1729A p.D577N exonic ENSG00000119943.13 . nonsynonymous SNV ENSG00000119943.13:ENST00000370575.5:exon16:c.G1729A:p.D577N 10q24.2 C3L-01313 . . . . . . . . . 11.20 D D D P D D M T D 0.650 T T D 0.465 0.790 0.525 0.146 T T T T D T 3.421 24.500 0.999 D D 0.728 7.526 0.654 6.975 1.000 0.653 0.634 0.616 0.669 . 5.390 5.390 6.826 1.026 0.599 1.000 0.673 0.301 725 . . . . PYROXD2 297 0 161 70 0.303030303030303 TRUE TRUE +ENSG00000213341.11 . BCM GRCh38.p13 chr10 100219029 100219029 + T T A Missense_Mutation SNP ENST00000370397.8 exon7 c.A668T p.H223L exonic ENSG00000213341.11 . nonsynonymous SNV ENSG00000213341.11:ENST00000370397.8:exon7:c.A668T:p.H223L 10q24.31 C3L-01313 . . . . . . . . . 10.20 T T D D D D L T N 0.688 T T D 0.415 0.678 0.756 1.691 T T D D D T 2.871 23.200 0.975 D D 0.674 6.771 0.698 7.719 1.000 0.707 0.546 0.609 0.714 . 5.890 5.890 5.928 1.134 0.656 1.000 1.000 0.998 821 Protein_kinase_domain . . . CHUK 406 6 372 160 0.300751879699248 TRUE TRUE +ENSG00000107902.14 . BCM GRCh38.p13 chr10 124488541 124488541 + C C A Missense_Mutation SNP ENST00000368842.10 exon3 c.C433A p.L145M exonic ENSG00000107902.14 . nonsynonymous SNV ENSG00000107902.14:ENST00000368842.10:exon3:c.C433A:p.L145M 10q26.13 C3L-01313 . . . . . . . . . 4.20 T T B B D D L T N 0.377 T T T 0.056 0.653 0.085 0.192 T T T T D T 2.053 19.660 0.982 D N -0.001 2.507 0.137 2.890 0.349 0.732 0.659 0.744 0.655 . 5.160 4.200 2.067 1.026 0.599 0.949 0.988 0.760 891 . . . ID=COSV64329547;OCCURENCE=1(thyroid) LHPP 125 0 91 5 0.0520833333333333 TRUE NA +ENSG00000166387.13 . BCM GRCh38.p13 chr11 7639870 7639870 + A A T Nonsense_Mutation SNP ENST00000299492.9 exon15 c.A1375T p.R459X exonic ENSG00000166387.13 . stopgain ENSG00000166387.13:ENST00000299492.9:exon15:c.A1375T:p.R459X 11p15.4 C3L-01313 . . . . . . . . . 7.7 . . . . D A . . . 0.408 . . . . . . . . . D D D . 8.629 44 0.998 D D 0.901 11.072 0.781 9.592 1.000 0.672 0.702 0.490 0.664 . 5.810 5.810 4.049 1.312 0.756 1.000 1.000 0.996 861 . . . . PPFIBP2 81 0 57 24 0.296296296296296 TRUE TRUE +ENSG00000110315.7 . BCM GRCh38.p13 chr11 10514921 10514921 + G G T Missense_Mutation SNP ENST00000265981.7 exon6 c.C688A p.P230T exonic ENSG00000110315.7 . nonsynonymous SNV ENSG00000110315.7:ENST00000265981.7:exon6:c.C688A:p.P230T 11p15.4 C3L-01313 . . . . . . . . . 13.20 D D D D D D L T N 0.518 T T D 0.385 0.344 0.815 1.238 T T D D D D 3.780 25.700 0.998 D D 0.713 7.305 0.760 9.052 1.000 0.757 0.710 0.710 0.657 . 5.560 5.560 9.588 1.176 0.676 1.000 0.989 0.771 774 . . . . RNF141 71 0 50 20 0.285714285714286 TRUE TRUE +ENSG00000187079.19 . BCM GRCh38.p13 chr11 12864842 12864842 + C C A Missense_Mutation SNP ENST00000527636.6 exon5 c.C272A p.S91Y exonic ENSG00000187079.19 . nonsynonymous SNV ENSG00000187079.19:ENST00000527636.6:exon5:c.C272A:p.S91Y 11p15.3 C3L-01313 . . . . . . . . . 18.20 D D D D D D M T D 0.857 D T D 0.702 0.801 0.754 . D D D D D D 3.929 26.500 0.993 D D 0.994 13.748 0.952 16.153 1.000 0.731 0.563 0.474 0.649 . 5.930 5.930 7.905 1.026 0.549 1.000 1.000 0.999 749 TEA/ATTS_domain . . . TEAD1 475 0 372 130 0.258964143426295 TRUE TRUE +ENSG00000110768.12 . BCM GRCh38.p13 chr11 18338179 18338179 + G G - Frame_Shift_Del DEL ENST00000265963.9 exon4 c.418delG p.E140Rfs*8 exonic ENSG00000110768.12 . frameshift deletion ENSG00000110768.12:ENST00000265963.9:exon4:c.418delG:p.E140Rfs*8 11p15.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTF2H1 180 0 172 44 0.203703703703704 NA TRUE +ENSG00000182255.7 . BCM GRCh38.p13 chr11 30012266 30012266 + - NA CCTCCTCTT In_Frame_Ins INS ENST00000328224.7 exon2 c.412_413insAAGAGGAGG p.E137_G138insEEE exonic ENSG00000182255.7 . nonframeshift insertion ENSG00000182255.7:ENST00000328224.7:exon2:c.412_413insAAGAGGAGG:p.E137_G138insEEE 11p14.1 C3L-01313 2.49e-05 0 0 0.0002 0 0 0 6.062e-05 rs752488769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNA4 NA NA NA NA NA NA NA +ENSG00000186119.8 . BCM GRCh38.p13 chr11 55819788 55819788 + C C - Frame_Shift_Del DEL ENST00000333976.6 exon1 c.159delC p.K55Nfs*30 exonic ENSG00000186119.8 . frameshift deletion ENSG00000186119.8:ENST00000333976.6:exon1:c.159delC:p.K55Nfs*30 11q12.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5D18 111 0 53 35 0.397727272727273 TRUE TRUE +ENSG00000133895.16 . BCM GRCh38.p13 chr11 64804426 64804426 + C C T Missense_Mutation SNP ENST00000337652.5 exon10 c.G1756A p.A586T exonic ENSG00000133895.16 . nonsynonymous SNV ENSG00000133895.16:ENST00000337652.5:exon10:c.G1756A:p.A586T 11q13.1 C3L-01313 . . . . . . . . . 19.20 D D D D D D M D D 0.709 D D D 0.877 0.577 0.940 2.167 T D D D D D 3.485 24.700 0.999 D D 0.717 7.361 0.676 7.331 1.000 0.731 0.696 0.750 0.723 . 4.670 4.670 6.701 1.025 0.599 1.000 0.904 0.461 332 . . . . MEN1 372 1 241 109 0.311428571428571 TRUE TRUE +ENSG00000151704.15 . BCM GRCh38.p13 chr11 128839739 128839739 + - NA T Frame_Shift_Ins INS ENST00000392664.2 exon2 c.561dupA p.R188Tfs*28 exonic ENSG00000151704.15 . frameshift insertion ENSG00000151704.15:ENST00000392664.2:exon2:c.561dupA:p.R188Tfs*28 11q24.3 C3L-01313 8.436e-06 0 0 0 0 1.545e-05 0 0 rs769554073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNJ1 NA NA NA NA NA NA NA +ENSG00000139182.15 . BCM GRCh38.p13 chr12 7137960 7137960 + G G C Missense_Mutation SNP ENST00000266546.11 exon8 c.G1216C p.G406R exonic ENSG00000139182.15 . nonsynonymous SNV ENSG00000139182.15:ENST00000266546.11:exon8:c.G1216C:p.G406R 12p13.31 C3L-01313 . . . . . . . . . 8.20 D D D P N D L T N 0.608 T T T 0.179 0.398 0.361 0.360 T T T T D D 3.780 25.700 0.996 D D 0.003 2.521 -0.062 2.159 0.999 0.706 0.702 0.710 0.714 . 4.950 3.150 4.914 1.176 0.676 1.000 0.983 0.915 686 . . . . CLSTN3 133 0 120 30 0.2 TRUE TRUE +ENSG00000139174.12 . BCM GRCh38.p13 chr12 42459924 42459924 + T T C Missense_Mutation SNP ENST00000345127.9 exon8 c.A2381G p.Y794C exonic ENSG00000139174.12 . nonsynonymous SNV ENSG00000139174.12:ENST00000345127.9:exon8:c.A2381G:p.Y794C 12q12 C3L-01313 . . . . . . . . . 11.20 T T D P D D M T N 0.845 T T D 0.235 0.239 0.547 1.210 T T D D D D 3.491 24.700 0.997 D D 0.434 4.558 0.514 5.286 1.000 0.722 0.588 0.696 0.735 . 5.570 5.570 5.643 1.049 0.665 1.000 1.000 0.997 503 . . . . PRICKLE1 248 0 208 155 0.426997245179063 TRUE TRUE +ENSG00000135655.16 . BCM GRCh38.p13 chr12 62392329 62392329 + T T G Missense_Mutation SNP ENST00000280377.10 exon18 c.T2362G p.L788V exonic ENSG00000135655.16 . nonsynonymous SNV ENSG00000135655.16:ENST00000280377.10:exon18:c.T2362G:p.L788V 12q14.1 C3L-01313 . . . . . . . . . 16.20 D D D D D D H T D 0.708 T T D 0.252 0.503 0.630 1.619 D T D D D D 3.795 25.800 0.998 D D 0.581 5.735 0.569 5.861 0.846 0.732 0.744 0.659 0.728 . 5.470 5.470 3.382 1.138 0.665 1.000 1.000 1.000 872 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP15 99 0 96 21 0.179487179487179 TRUE TRUE +ENSG00000091039.17 . BCM GRCh38.p13 chr12 76378467 76378467 + A A G Missense_Mutation SNP ENST00000261183.8 exon16 c.T1714C p.Y572H exonic ENSG00000091039.17 . nonsynonymous SNV ENSG00000091039.17:ENST00000261183.8:exon16:c.T1714C:p.Y572H 12q21.2 C3L-01313 . . . . . . . . . 15.20 D D D D D D M T D 0.881 T T T 0.331 0.486 0.421 1.247 D T D D D D 4.195 28.600 0.998 D D 0.685 6.910 0.727 8.291 1.000 0.732 0.744 0.710 0.728 . 5.920 5.920 9.178 1.312 0.756 1.000 1.000 0.992 944 . . . . OSBPL8 94 0 100 42 0.295774647887324 TRUE TRUE +ENSG00000158023.10 . BCM GRCh38.p13 chr12 121949053 121949053 + T T A Missense_Mutation SNP ENST00000288912.9 exon8 c.T1261A p.Y421N exonic ENSG00000158023.10 . nonsynonymous SNV ENSG00000158023.10:ENST00000288912.9:exon8:c.T1261A:p.Y421N 12q24.31 C3L-01313 . . . . . . . . . 12.19 D D P B D D . T D 0.942 T T D 0.259 0.388 0.422 0.715 T T D D D D 3.395 24.400 0.989 D D 0.479 4.874 0.501 5.165 1.000 0.554 0.588 0.602 0.568 . 5.690 5.690 5.566 1.138 0.660 1.000 0.874 0.970 763 . . . . WDR66 119 0 65 24 0.269662921348315 TRUE TRUE +ENSG00000092036.18 . BCM GRCh38.p13 chr14 22955106 22955106 + G G T Missense_Mutation SNP ENST00000206474.11 exon2 c.C49A p.Q17K exonic ENSG00000092036.18 . nonsynonymous SNV ENSG00000092036.18:ENST00000206474.11:exon2:c.C49A:p.Q17K 14q11.2 C3L-01313 8.237e-06 0 0 0 0 1.498e-05 0 0 rs753080897 4.19 D T B B N D L . D 0.386 T T T 0.031 0.383 0.528 0.270 T T T T T T 3.199 23.900 0.977 D N -0.056 2.318 0.082 2.660 1.000 0.706 0.644 0.710 0.714 . 5.470 4.550 2.961 1.172 0.676 1.000 0.971 0.997 856 . . . . HAUS4 195 0 164 56 0.254545454545455 TRUE NA +ENSG00000156030.13 . BCM GRCh38.p13 chr14 73726676 73726699 + GCTGGAGCAGGCGGCTGTCAGCAG GCTGGAGCAGGCGGCTGTCAGCAG - In_Frame_Del DEL ENST00000286523.9 exon7 c.2314_2337del p.L772_S779del exonic ENSG00000156030.13 . nonframeshift deletion ENSG00000156030.13:ENST00000286523.9:exon7:c.2314_2337del:p.L772_S779del 14q24.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIDEAS 249 0 77 40 0.341880341880342 TRUE TRUE +ENSG00000140022.13 . BCM GRCh38.p13 chr14 81261903 81261903 + G G A Missense_Mutation SNP ENST00000649389.1 exon9 c.C2813T p.P938L exonic ENSG00000140022.13 . nonsynonymous SNV ENSG00000140022.13:ENST00000649389.1:exon9:c.C2813T:p.P938L 14q31.1 C3L-01313 . . . . . . . . . 2.15 D D . . . N . T N 0.160 T T T 0.035 0.550 0.068 0.525 T . T T T T 1.381 14.950 0.992 N N -0.571 1.041 -0.697 0.904 0.787 0.615 0.547 0.659 0.564 . 4.000 2.120 0.263 0.242 0.672 0.007 0.236 0.176 588 . . . . STON2 84 0 36 32 0.470588235294118 TRUE TRUE +ENSG00000187535.14 . BCM GRCh38.p13 chr16 1524673 1524673 + - NA T Frame_Shift_Ins INS ENST00000426508.7 exon24 c.3019dupA p.T1007Nfs*113 exonic ENSG00000187535.14 . frameshift insertion ENSG00000187535.14:ENST00000426508.7:exon24:c.3019dupA:p.T1007Nfs*113 16p13.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFT140 NA NA NA NA NA NA NA +ENSG00000103355.13 . BCM GRCh38.p13 chr16 2785920 2785920 + G G A Missense_Mutation SNP ENST00000293851.9 exon3 c.C121T p.R41W exonic ENSG00000103355.13 . nonsynonymous SNV ENSG00000103355.13:ENST00000293851.9:exon3:c.C121T:p.R41W 16p13.3 C3L-01313 9.536e-05 0 0.0003 0 0 0.0001 0.0014 0 rs748539512 8.20 D D D P N N N D D 0.330 T D D 0.461 0.580 0.802 0.392 T D T T T T 2.981 23.400 0.997 N N 0.019 2.580 -0.088 2.082 1.000 0.598 0.596 0.492 0.639 . 4.220 3.140 -1.020 0.210 -0.219 0.000 0.815 0.091 576 Serine_proteases,_trypsin_domain . . . PRSS33 270 0 163 32 0.164102564102564 TRUE NA +ENSG00000166589.13 . BCM GRCh38.p13 chr16 66915249 66915249 + C C T Missense_Mutation SNP ENST00000299752.9 exon6 c.G554A p.R185Q exonic ENSG00000166589.13 . nonsynonymous SNV ENSG00000166589.13:ENST00000299752.9:exon6:c.G554A:p.R185Q 16q22.1 C3L-01313 3.385e-05 0 0 0.0001 0 4.614e-05 0 0 rs750106454 0.20 T T B B N N L T N 0.151 T T T 0.034 0.393 0.367 0.081 T T T T T T -1.428 0.001 0.780 N N -1.363 0.133 -1.424 0.140 0.085 0.598 0.590 0.573 0.639 . 5.120 -6.980 -2.967 -3.191 -2.511 0.000 0.045 0.362 109 Cadherin-like . . . CDH16 84 0 69 12 0.148148148148148 TRUE NA +ENSG00000132522.16 . BCM GRCh38.p13 chr17 7313688 7313688 + C C - Frame_Shift_Del DEL ENST00000380728.7 exon7 c.514delG p.A172Qfs*173 exonic ENSG00000132522.16 . frameshift deletion ENSG00000132522.16:ENST00000380728.7:exon7:c.514delG:p.A172Qfs*173 17p13.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPS2 153 0 76 29 0.276190476190476 TRUE TRUE +ENSG00000083290.20 . BCM GRCh38.p13 chr17 19841489 19841489 + C C G Missense_Mutation SNP ENST00000395544.9 exon9 c.G704C p.S235T exonic ENSG00000083290.20 . nonsynonymous SNV ENSG00000083290.20:ENST00000395544.9:exon9:c.G704C:p.S235T 17p11.2 C3L-01313 . . . . . . . . . 5.20 T T P B D D N T N 0.261 T T D 0.076 0.383 0.709 0.649 T T T T D T 3.806 25.900 0.845 D N -0.081 2.235 0.003 2.369 0.000 0.563 0.574 0.602 0.636 . 4.450 3.480 0.435 0.991 0.580 0.996 1.000 1.000 503 Protein_kinase_domain . . . ULK2 134 0 62 28 0.311111111111111 TRUE TRUE +ENSG00000109101.7 . BCM GRCh38.p13 chr17 28524884 28524884 + G G A Missense_Mutation SNP ENST00000226247.2 exon2 c.G505A p.E169K exonic ENSG00000109101.7 . nonsynonymous SNV ENSG00000109101.7:ENST00000226247.2:exon2:c.G505A:p.E169K 17q11.2 C3L-01313 . . . . . . . . rs907070119 12.20 D T D P D D L D N 0.593 D D D 0.564 0.440 0.755 0.652 T T D D D T 3.985 26.900 0.999 D N 0.541 5.368 0.577 5.950 1.000 0.428 0.547 0.547 0.613 . 5.580 5.580 6.105 1.176 0.676 1.000 0.792 0.951 152 . . . . FOXN1 227 0 173 77 0.308 TRUE NA +ENSG00000073536.18 . BCM GRCh38.p13 chr17 35139858 35139858 + G G T Missense_Mutation SNP ENST00000442241.9 exon3 c.C371A p.P124H exonic ENSG00000073536.18 . nonsynonymous SNV ENSG00000073536.18:ENST00000442241.9:exon3:c.C371A:p.P124H 17q12 C3L-01313 . . . . . . . . . 16.20 D D D D D D L T D 0.891 D T D 0.690 0.625 0.920 1.132 D T D D D D 4.230 28.900 0.997 D D 0.770 8.226 0.706 7.872 1.000 0.672 0.686 0.702 0.711 . 4.580 4.580 9.194 1.176 0.676 1.000 0.991 0.982 926 WD40-repeat-containing_domain . . . NLE1 214 0 112 58 0.341176470588235 TRUE TRUE +ENSG00000189050.16 . BCM GRCh38.p13 chr17 59962546 59962546 + A A - Nonsense_Mutation SNP ENST00000305783.13 exon3 c.585delT p.L196* exonic ENSG00000189050.16 . stopgain ENSG00000189050.16:ENST00000305783.13:exon3:c.585delT:p.L196* 17q23.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNFT1 75 0 45 28 0.383561643835616 NA TRUE +ENSG00000183077.15 . BCM GRCh38.p13 chr17 78187387 78187387 + G G T Missense_Mutation SNP ENST00000409257.9 exon1 c.G17T p.G6V exonic ENSG00000183077.15 . nonsynonymous SNV ENSG00000183077.15:ENST00000409257.9:exon1:c.G17T:p.G6V 17q25.3 C3L-01313 . . . . . . . . . 2.20 D D B B N N L T N 0.188 T T T 0.025 0.425 0.092 0.280 T T T T T T 0.200 3.119 0.573 N N -1.383 0.124 -1.470 0.119 1.000 0.267 0.484 0.240 0.250 . 3.120 -1.520 -0.340 -0.112 -0.190 0.000 0.001 0.002 923 . . . . AFMID 156 0 126 47 0.271676300578035 TRUE TRUE +ENSG00000215474.8 . BCM GRCh38.p13 chr18 47230536 47230536 + A A G Missense_Mutation SNP ENST00000425639.3 exon6 c.T2840C p.F947S exonic ENSG00000215474.8 . nonsynonymous SNV ENSG00000215474.8:ENST00000425639.3:exon6:c.T2840C:p.F947S 18q21.1 C3L-01313 . . . . . . . . . 8.15 D T . . . D . T D 0.509 T T T 0.278 0.452 0.082 1.594 T . D T D D 3.432 24.500 0.996 D D 0.310 3.830 0.420 4.504 0.999 0.554 0.590 0.618 0.542 . 5.150 5.150 8.119 1.312 0.756 1.000 1.000 1.000 883 . . . . SKOR2 63 0 47 3 0.06 TRUE NA +ENSG00000065268.11 . BCM GRCh38.p13 chr19 989855 989855 + G G A Missense_Mutation SNP ENST00000585809.6 exon3 c.G415A p.G139R exonic ENSG00000065268.11 . nonsynonymous SNV ENSG00000065268.11:ENST00000585809.6:exon3:c.G415A:p.G139R 19p13.3 C3L-01313 . . . . . . . . . 15.18 . D D D D D H T . 0.885 D D D 0.830 0.884 0.692 . T T D D D D 4.252 29.100 0.999 D D 0.780 8.399 0.584 6.033 1.000 0.713 0.698 0.636 0.692 . 3.900 3.900 8.461 1.101 0.590 1.000 0.571 0.515 988 WD40-repeat-containing_domain . . . WDR18 93 0 56 22 0.282051282051282 TRUE TRUE +ENSG00000104897.10 . BCM GRCh38.p13 chr19 2247861 2247861 + T T C Missense_Mutation SNP ENST00000221494.10 exon9 c.T710C p.L237P exonic ENSG00000104897.10 . nonsynonymous SNV ENSG00000104897.10:ENST00000221494.10:exon9:c.T710C:p.L237P 19p13.3 C3L-01313 . . . . . . . . . 9.20 D T D P N D M T N 0.639 T T D 0.169 0.311 0.385 1.009 D T T T D T 3.796 25.800 0.992 D D 0.363 4.122 0.333 3.917 1.000 0.672 0.702 0.644 0.711 . 4.670 4.670 4.383 0.972 0.576 1.000 0.536 0.716 976 . . . . SF3A2 196 2 79 27 0.254716981132075 TRUE TRUE +ENSG00000160633.13 . BCM GRCh38.p13 chr19 5641909 5641909 + A A G Missense_Mutation SNP ENST00000292123.9 exon4 c.A509G p.E170G exonic ENSG00000160633.13 . nonsynonymous SNV ENSG00000160633.13:ENST00000292123.9:exon4:c.A509G:p.E170G 19p13.3 C3L-01313 . . . . . . . . . 6.20 D T P P N D L T D 0.418 T T T 0.090 0.196 0.319 0.240 T T T T D T 3.076 23.600 0.998 D D -0.049 2.341 -0.023 2.282 0.994 0.707 0.702 0.725 0.711 . 5.510 5.510 7.507 1.312 0.756 1.000 0.714 0.431 785 . . . . SAFB 278 0 159 73 0.314655172413793 TRUE TRUE +ENSG00000130382.9 . BCM GRCh38.p13 chr19 6222157 6222157 + C C A Missense_Mutation SNP ENST00000252674.9 exon6 c.G1074T p.E358D exonic ENSG00000130382.9 . nonsynonymous SNV ENSG00000130382.9:ENST00000252674.9:exon6:c.G1074T:p.E358D 19p13.3 C3L-01313 . . . . . . . . . 1.19 T T B B N N N . N 0.112 T T T 0.052 0.233 0.298 0.238 T T T T T T 1.052 12.260 0.812 D N -0.755 0.723 -0.592 1.058 0.998 0.707 0.702 0.702 0.714 . 4.650 0.524 0.039 0.088 0.599 0.938 0.954 0.929 946 . . . . MLLT1 31 0 30 3 0.0909090909090909 TRUE NA +ENSG00000233927.5 . BCM GRCh38.p13 chr19 8321544 8321544 + G G C Missense_Mutation SNP ENST00000600659.3 exon1 c.G14C p.R5P exonic ENSG00000233927.5 . nonsynonymous SNV ENSG00000233927.5:ENST00000600659.3:exon1:c.G14C:p.R5P 19p13.2 C3L-01313 . . . . . . . . . 10.15 . T D P . D . . . 0.735 T T D 0.167 0.453 0.640 2.979 D T D D D D 3.369 24.300 0.994 D D 0.306 3.811 0.270 3.549 1.000 0.442 0.522 0.522 0.562 . 5.080 4.000 5.857 1.156 0.653 1.000 0.494 0.287 940 . . . . RPS28 55 0 51 4 0.0727272727272727 TRUE NA +ENSG00000080573.7 . BCM GRCh38.p13 chr19 9966393 9966393 + G G A Missense_Mutation SNP ENST00000264828.4 exon64 c.C4703T p.A1568V exonic ENSG00000080573.7 . nonsynonymous SNV ENSG00000080573.7:ENST00000264828.4:exon64:c.C4703T:p.A1568V 19p13.2 C3L-01313 . . . . . . . . . 3.20 D T B B N N L T N 0.120 T T D 0.126 0.598 0.579 0.347 T T T T T D 2.005 19.290 0.996 N N -0.633 0.929 -0.627 1.007 0.991 0.652 0.574 0.641 0.530 . 4.200 3.160 2.211 1.083 0.676 0.029 0.632 0.823 903 Fibrillar_collagen,_C-terminal . . . COL5A3 59 0 44 10 0.185185185185185 TRUE TRUE +ENSG00000104936.18 . BCM GRCh38.p13 chr19 45771373 45771373 + G G C Missense_Mutation SNP ENST00000291270.9 exon13 c.C1624G p.R542G exonic ENSG00000104936.18 . nonsynonymous SNV ENSG00000104936.18:ENST00000291270.9:exon13:c.C1624G:p.R542G 19q13.32 C3L-01313 . . . . . . . . . 9.20 D D P B N D M T D 0.241 T T D 0.188 0.169 0.701 0.452 T D T T D T 3.335 24.200 0.996 D N 0.197 3.288 0.238 3.377 1.000 0.726 0.607 0.594 0.735 . 4.240 4.240 0.702 1.176 0.676 1.000 1.000 1.000 799 . . . . DMPK 66 0 19 14 0.424242424242424 TRUE TRUE +ENSG00000131400.8 . BCM GRCh38.p13 chr19 50365581 50365581 + A A G Missense_Mutation SNP ENST00000253719.7 exon1 c.T41C p.L14P exonic ENSG00000131400.8 . nonsynonymous SNV ENSG00000131400.8:ENST00000253719.7:exon1:c.T41C:p.L14P 19q13.33 C3L-01313 . . . . . . . . . 3.20 D D B B N N N T D 0.261 T T T 0.117 0.723 0.154 0.258 T T T T T T 0.595 7.465 0.705 N N -1.125 0.285 -1.258 0.238 1.000 0.516 0.522 0.602 0.586 . 2.910 -0.425 -1.578 -0.872 -0.462 0.000 0.111 0.370 628 . . . . NAPSA 139 0 82 40 0.327868852459016 TRUE TRUE +ENSG00000154930.15 . BCM GRCh38.p13 chr20 25020141 25020141 + T T C Missense_Mutation SNP ENST00000323482.9 exon7 c.A1115G p.Y372C exonic ENSG00000154930.15 . nonsynonymous SNV ENSG00000154930.15:ENST00000323482.9:exon7:c.A1115G:p.Y372C 20p11.21 C3L-01313 . . . . . . . . . 13.20 T T D D D D M T D 0.919 T T D 0.595 0.624 0.715 1.720 T T D D D D 3.700 25.400 0.998 D D 0.703 7.158 0.689 7.558 1.000 0.707 0.725 0.659 0.655 . 5.680 5.680 7.488 1.138 0.665 1.000 0.993 0.953 846 AMP-dependent_synthetase/ligase . . . ACSS1 144 1 96 44 0.314285714285714 NA TRUE +ENSG00000171703.17 . BCM GRCh38.p13 chr20 64069801 64069801 + T T C Missense_Mutation SNP ENST00000343484.10 exon6 c.T497C p.L166P exonic ENSG00000171703.17 . nonsynonymous SNV ENSG00000171703.17:ENST00000343484.10:exon6:c.T497C:p.L166P 20q13.33 C3L-01313 . . . . . . . . . 13.20 D D D D N N H T D 0.922 T T D 0.338 0.904 0.801 2.078 T T D D D D 3.860 26.100 0.996 D D 0.431 4.542 0.195 3.158 1.000 0.840 0.780 0.737 0.636 . 4.410 3.280 7.806 1.138 0.665 0.976 0.117 0.035 . Transcription_elongation_factor_S-II,_central_domain . . . TCEA2 145 0 76 30 0.283018867924528 TRUE TRUE +ENSG00000160282.14 . BCM GRCh38.p13 chr21 46150434 46150434 + A A G Missense_Mutation SNP ENST00000397746.8 exon6 c.T728C p.V243A exonic ENSG00000160282.14 . nonsynonymous SNV ENSG00000160282.14:ENST00000397746.8:exon6:c.T728C:p.V243A 21q22.3 C3L-01313 . . . . . . . . . 6.20 T T P P N N L T D 0.385 T T D 0.344 0.467 0.808 0.087 T D T T D T 2.434 22.200 0.997 D D 0.225 3.414 0.237 3.372 1.000 0.622 0.547 0.492 0.568 . 4.830 4.830 4.112 1.278 0.756 1.000 0.898 0.269 982 Formiminotransferase_catalytic_domain;Formiminotransferase,_C-terminal_subdomain . . . FTCD 512 1 327 140 0.299785867237687 TRUE TRUE +ENSG00000099995.19 . BCM GRCh38.p13 chr22 30340721 30340721 + A A G Missense_Mutation SNP ENST00000215793.13 exon8 c.T1163C p.I388T exonic ENSG00000099995.19 . nonsynonymous SNV ENSG00000099995.19:ENST00000215793.13:exon8:c.T1163C:p.I388T 22q12.2 C3L-01313 . . . . . . . . . 10.20 T T D D D D L T N 0.770 T T T 0.374 0.261 0.537 2.151 D T D T D D 3.449 24.600 0.996 D D 0.634 6.288 0.693 7.631 1.000 0.707 0.702 0.725 0.711 . 5.940 5.940 9.215 1.312 0.756 1.000 0.999 0.996 306 Splicing_factor_3A_subunit_1 . . . SF3A1 91 0 53 16 0.231884057971014 TRUE TRUE +ENSG00000100426.7 . BCM GRCh38.p13 chr22 49883718 49883718 + A A C Missense_Mutation SNP ENST00000216268.6 exon2 c.A56C p.K19T exonic ENSG00000100426.7 . nonsynonymous SNV ENSG00000100426.7:ENST00000216268.6:exon2:c.A56C:p.K19T 22q13.33 C3L-01313 . . . . . . . . . 4.20 D D B B N N L T N 0.113 T T T 0.068 0.189 0.043 0.669 T T T T D T 1.722 17.180 0.997 D N -0.400 1.383 -0.314 1.536 1.000 0.732 0.725 0.710 0.728 . 4.900 3.850 4.429 0.269 0.756 1.000 0.497 0.979 975 . . . . ZBED4 44 0 35 21 0.375 TRUE TRUE +ENSG00000153993.13 . BCM GRCh38.p13 chr7 85022390 85022390 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000153993.13 ENST00000284136.10:exon11:c.1414+1G>T . . 7q21.11 C3L-01313 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.276 35 0.995 D . 1.095 17.315 0.925 14.865 1.000 0.078 0.061 0.060 0.093 0.981 5.570 5.570 7.905 1.026 0.599 1.000 0.950 0.845 913 . . . . SEMA3D 148 0 114 54 0.321428571428571 TRUE TRUE +ENSG00000123104.12 . BCM GRCh38.p13 chr12 26622407 26622407 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000123104.12 ENST00000381340.8:exon25:c.3123-2A>T . . 12p11.23 C3L-01313 2.023e-05 0 0 0 0 3.637e-05 0 0 rs770954276 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.874 35 0.995 D . 1.017 14.461 0.845 11.594 1.000 0.099 0.078 0.060 0.118 0.984 5.110 5.110 5.434 1.120 0.644 1.000 0.999 0.992 788 . . . . ITPR2 52 0 43 33 0.434210526315789 TRUE NA +ENSG00000108671.11 . BCM GRCh38.p13 chr17 32447047 32447047 + - NA T Splice_Site SNP NA NA NA NA splicing ENSG00000108671.11 ENST00000261712.8:exon2:c.193+1->T . . 17q11.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSMD11 NA NA NA NA NA NA NA +ENSG00000156313.15 . BCM GRCh38.p13 chrX 38323526 38323526 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000156313.15 ENST00000339363.7:exon2:c.29-2A>G . . Xp11.4 C3L-01313 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.019 33 0.990 D . . . . . 1.000 . . . . 0.861 5.600 5.600 7.657 1.135 0.663 1.000 0.951 0.934 719 . . . . RPGR 113 0 45 81 0.642857142857143 TRUE TRUE +ENSG00000127472.11 . BCM GRCh38.p13 chr1 20090647 20090647 + C C T Silent SNP ENST00000375108.4 exon5 c.C372T p.S124S exonic ENSG00000127472.11 . synonymous SNV ENSG00000127472.11:ENST00000375108.4:exon5:c.C372T:p.S124S 1p36.13 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLA2G5 235 0 168 67 0.285106382978723 TRUE NA +ENSG00000143228.13 . BCM GRCh38.p13 chr1 163336785 163336785 + T T C Silent SNP ENST00000271452.8 exon6 c.T372C p.I124I exonic ENSG00000143228.13 . synonymous SNV ENSG00000143228.13:ENST00000271452.8:exon6:c.T372C:p.I124I 1q23.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUF2 196 0 234 68 0.225165562913907 TRUE TRUE +ENSG00000150722.10 . BCM GRCh38.p13 chr2 182117268 182117268 + T T C Silent SNP ENST00000409137.7 exon5 c.T303C p.N101N exonic ENSG00000150722.10 . synonymous SNV ENSG00000150722.10:ENST00000409137.7:exon5:c.T303C:p.N101N 2q32.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R1C 191 0 115 51 0.307228915662651 TRUE TRUE +ENSG00000177483.11 . BCM GRCh38.p13 chr2 237813654 237813654 + C C T Silent SNP ENST00000316997.8 exon2 c.C48T p.Y16Y exonic ENSG00000177483.11 . synonymous SNV ENSG00000177483.11:ENST00000316997.8:exon2:c.C48T:p.Y16Y 2q37.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM44 176 0 132 37 0.218934911242604 TRUE TRUE +ENSG00000134070.5 . BCM GRCh38.p13 chr3 10242138 10242138 + T T C Silent SNP ENST00000256458.5 exon13 c.T1788C p.I596I exonic ENSG00000134070.5 . synonymous SNV ENSG00000134070.5:ENST00000256458.5:exon13:c.T1788C:p.I596I 3p25.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRAK2 101 0 94 10 0.0961538461538462 TRUE TRUE +ENSG00000197415.12 . BCM GRCh38.p13 chr3 157313744 157313744 + A A T Silent SNP ENST00000362010.7 exon11 c.T1887A p.P629P exonic ENSG00000197415.12 . synonymous SNV ENSG00000197415.12:ENST00000362010.7:exon11:c.T1887A:p.P629P 3q25.32 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VEPH1 112 1 110 53 0.325153374233129 TRUE TRUE +ENSG00000155016.18 . BCM GRCh38.p13 chr4 107945223 107945223 + C C T Silent SNP ENST00000332884.11 exon2 c.C744T p.F248F exonic ENSG00000155016.18 . synonymous SNV ENSG00000155016.18:ENST00000332884.11:exon2:c.C744T:p.F248F 4q25 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP2U1 336 0 220 106 0.325153374233129 TRUE TRUE +ENSG00000132356.11 . BCM GRCh38.p13 chr5 40775428 40775428 + A A G Silent SNP ENST00000397128.6 exon3 c.T345C p.Y115Y exonic ENSG00000132356.11 . synonymous SNV ENSG00000132356.11:ENST00000397128.6:exon3:c.T345C:p.Y115Y 5p13.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKAA1 201 0 154 54 0.259615384615385 TRUE TRUE +ENSG00000113593.12 . BCM GRCh38.p13 chr5 65585074 65585074 + T T C Silent SNP ENST00000261308.10 exon9 c.T1593C p.H531H exonic ENSG00000113593.12 . synonymous SNV ENSG00000113593.12:ENST00000261308.10:exon9:c.T1593C:p.H531H 5q12.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPWD1 111 0 154 36 0.189473684210526 TRUE TRUE +ENSG00000091009.8 . BCM GRCh38.p13 chr5 146285964 146285964 + T T C Silent SNP ENST00000265271.7 exon21 c.T3117C p.D1039D exonic ENSG00000091009.8 . synonymous SNV ENSG00000091009.8:ENST00000265271.7:exon21:c.T3117C:p.D1039D 5q32 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM27 227 0 261 19 0.0678571428571429 TRUE TRUE +ENSG00000083067.22 . BCM GRCh38.p13 chr9 70640599 70640599 + G G T Silent SNP ENST00000357533.6 exon10 c.C1413A p.I471I exonic ENSG00000083067.22 . synonymous SNV ENSG00000083067.22:ENST00000357533.6:exon10:c.C1413A:p.I471I 9q21.12 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRPM3 220 0 141 43 0.233695652173913 TRUE TRUE +ENSG00000125482.13 . BCM GRCh38.p13 chr9 132390818 132390818 + A A T Silent SNP ENST00000334270.3 exon7 c.T2001A p.G667G exonic ENSG00000125482.13 . synonymous SNV ENSG00000125482.13:ENST00000334270.3:exon7:c.T2001A:p.G667G 9q34.13 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTF1 145 0 111 32 0.223776223776224 TRUE TRUE +ENSG00000204003.8 . BCM GRCh38.p13 chr9 136744722 136744722 + G G A Silent SNP ENST00000341206.9 exon5 c.C432T p.S144S exonic ENSG00000204003.8;ENSG00000267206.6 . synonymous SNV ENSG00000267206.6:ENST00000341206.9:exon5:c.C432T:p.S144S,ENSG00000204003.8:ENST00000435202.5:exon5:c.C402T:p.S134S 9q34.3 C3L-01313 9.983e-06 0 0 0 0 1.807e-05 0 0 rs774261451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL355987.1 133 0 104 19 0.154471544715447 TRUE NA +ENSG00000123444.14 . BCM GRCh38.p13 chr11 47577421 47577421 + A A G Silent SNP ENST00000395288.6 exon2 c.T579C p.D193D exonic ENSG00000123444.14 . synonymous SNV ENSG00000123444.14:ENST00000395288.6:exon2:c.T579C:p.D193D 11p11.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KBTBD4 69 0 47 20 0.298507462686567 TRUE TRUE +ENSG00000172932.16 . BCM GRCh38.p13 chr11 67290431 67290431 + C C G Silent SNP ENST00000511455.7 exon3 c.C336G p.L112L exonic ENSG00000172932.16 . synonymous SNV ENSG00000172932.16:ENST00000511455.7:exon3:c.C336G:p.L112L 11q13.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD13D 82 0 61 17 0.217948717948718 TRUE TRUE +ENSG00000196914.9 . BCM GRCh38.p13 chr11 120480195 120480195 + T T C Silent SNP ENST00000397843.7 exon38 c.T4002C p.S1334S exonic ENSG00000196914.9 . synonymous SNV ENSG00000196914.9:ENST00000397843.7:exon38:c.T4002C:p.S1334S 11q23.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGEF12 320 0 229 95 0.29320987654321 TRUE TRUE +ENSG00000084112.15 . BCM GRCh38.p13 chr12 108788887 108788887 + G G A Silent SNP ENST00000326495.10 exon15 c.C2251T p.L751L exonic ENSG00000084112.15 . synonymous SNV ENSG00000084112.15:ENST00000326495.10:exon15:c.C2251T:p.L751L 12q24.11 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSH1 236 1 288 85 0.227882037533512 TRUE TRUE +ENSG00000111271.15 . BCM GRCh38.p13 chr12 111702205 111702205 + G G A Silent SNP ENST00000313698.9 exon3 c.G231A p.K77K exonic ENSG00000111271.15 . synonymous SNV ENSG00000111271.15:ENST00000313698.9:exon3:c.G231A:p.K77K 12q24.12 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACAD10 141 0 137 134 0.494464944649447 TRUE TRUE +ENSG00000102786.15 . BCM GRCh38.p13 chr13 51452433 51452433 + C C A Silent SNP ENST00000311234.9 exon1 c.G93T p.A31A exonic ENSG00000102786.15 . synonymous SNV ENSG00000102786.15:ENST00000311234.9:exon1:c.G93T:p.A31A 13q14.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INTS6 285 0 63 58 0.479338842975207 TRUE TRUE +ENSG00000118922.17 . BCM GRCh38.p13 chr13 73764997 73764997 + T T C Silent SNP ENST00000377669.6 exon5 c.A810G p.V270V exonic ENSG00000118922.17 . synonymous SNV ENSG00000118922.17:ENST00000377669.6:exon5:c.A810G:p.V270V 13q22.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLF12 78 0 27 17 0.386363636363636 TRUE NA +ENSG00000142208.16 . BCM GRCh38.p13 chr14 104770836 104770836 + G G T Silent SNP ENST00000554581.5 exon12 c.C1272A p.P424P exonic ENSG00000142208.16 . synonymous SNV ENSG00000142208.16:ENST00000554581.5:exon12:c.C1272A:p.P424P 14q32.33 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AKT1 186 0 67 39 0.367924528301887 TRUE TRUE +ENSG00000066933.16 . BCM GRCh38.p13 chr15 71901218 71901218 + A A G Silent SNP ENST00000356056.10 exon23 c.T3123C p.H1041H exonic ENSG00000066933.16 . synonymous SNV ENSG00000066933.16:ENST00000356056.10:exon23:c.T3123C:p.H1041H 15q23 C3L-01313 . . . . . . . . rs111920017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO9A 139 0 87 34 0.28099173553719 TRUE NA +ENSG00000007171.18 . BCM GRCh38.p13 chr17 27787686 27787686 + G G A Silent SNP ENST00000313735.11 exon5 c.C459T p.S153S exonic ENSG00000007171.18 . synonymous SNV ENSG00000007171.18:ENST00000313735.11:exon5:c.C459T:p.S153S 17q11.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOS2 68 0 38 22 0.366666666666667 TRUE TRUE +ENSG00000131475.7 . BCM GRCh38.p13 chr17 42773865 42773865 + C C T Silent SNP ENST00000253794.7 exon2 c.C186T p.N62N exonic ENSG00000131475.7 . synonymous SNV ENSG00000131475.7:ENST00000253794.7:exon2:c.C186T:p.N62N 17q21.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS25 102 0 52 25 0.324675324675325 NA TRUE +ENSG00000154864.12 . BCM GRCh38.p13 chr18 10689727 10689727 + C C T Silent SNP ENST00000503781.7 exon45 c.G7086A p.L2362L exonic ENSG00000154864.12 . synonymous SNV ENSG00000154864.12:ENST00000503781.7:exon45:c.G7086A:p.L2362L 18p11.22 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIEZO2 167 0 52 39 0.428571428571429 TRUE TRUE +ENSG00000134760.6 . BCM GRCh38.p13 chr18 31354701 31354701 + C C A Silent SNP ENST00000257192.5 exon15 c.C2505A p.V835V exonic ENSG00000134760.6 . synonymous SNV ENSG00000134760.6:ENST00000257192.5:exon15:c.C2505A:p.V835V 18q12.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DSG1 386 0 166 98 0.371212121212121 TRUE TRUE +ENSG00000171903.16 . BCM GRCh38.p13 chr19 15922162 15922162 + A A G Silent SNP ENST00000402119.8 exon8 c.T990C p.H330H exonic ENSG00000171903.16 . synonymous SNV ENSG00000171903.16:ENST00000402119.8:exon8:c.T990C:p.H330H 19p13.12 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP4F11 71 0 29 19 0.395833333333333 TRUE TRUE +ENSG00000198646.14 . BCM GRCh38.p13 chr20 34757661 34757661 + A A G Silent SNP ENST00000359003.7 exon7 c.T1087C p.L363L exonic ENSG00000198646.14 . synonymous SNV ENSG00000198646.14:ENST00000359003.7:exon7:c.T1087C:p.L363L 20q11.22 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCOA6 181 0 98 51 0.342281879194631 TRUE TRUE +ENSG00000100344.11 . BCM GRCh38.p13 chr22 43923944 43923944 + C C A Silent SNP ENST00000216180.8 exon1 c.C33A p.S11S exonic ENSG00000100344.11 . synonymous SNV ENSG00000100344.11:ENST00000216180.8:exon1:c.C33A:p.S11S 22q13.31 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PNPLA3 71 0 44 16 0.266666666666667 TRUE TRUE +ENSG00000090686.16 . BCM GRCh38.p13 chr1 21706899 21706899 + A A C Intron SNP NA NA NA NA intronic ENSG00000090686.16 . . . 1p36.12 C3L-01313 . . . . . . . . . 0.13 T . . . . N . T N 0.204 T T T 0.011 0.357 0.371 . . . T T T T 0.049 1.671 0.832 N N -0.789 0.672 -0.975 0.521 1.000 0.422 0.380 0.600 0.323 . 1.090 1.090 0.229 0.093 0.731 0.000 0.000 0.033 840 . . . . USP48 46 0 29 23 0.442307692307692 NA TRUE +ENSG00000112851.14 . BCM GRCh38.p13 chr5 66068912 66068912 + T T C Intron SNP NA NA NA NA intronic ENSG00000112851.14 . . . 5q12.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERBIN 92 0 90 75 0.454545454545455 TRUE TRUE +ENSG00000096093.16 . BCM GRCh38.p13 chr6 52494603 52494603 + G G - 3'UTR SNP NA NA NA NA UTR3 ENSG00000096093.16 ENST00000371068.11:c.*2262delG . . 6p12.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFHC1 118 0 104 52 0.333333333333333 TRUE NA +ENSG00000183784.7 . BCM GRCh38.p13 chr9 214966 214966 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000183784.7 . . . 9p24.3 C3L-01313 5.505e-05 0 0 0 0 8.15e-05 0 6.979e-05 rs533265595 4.17 . D D D . N N T D 0.252 T T T 0.067 0.277 0.130 0.417 . T T T T T 2.207 20.900 0.923 N N -0.442 1.293 -0.613 1.026 1.000 0.496 0.219 0.166 0.555 . 4.080 2.120 1.201 -0.735 -0.822 0.004 0.000 0.000 927 . . . . DOCK8-AS1 208 0 144 25 0.14792899408284 TRUE NA +ENSG00000251562.8 . BCM GRCh38.p13 chr11 65504229 65504229 + T T C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000251562.8 . . . 11q13.1 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 174 0 106 41 0.27891156462585 TRUE NA +ENSG00000139190.16 . BCM GRCh38.p13 chr12 6464039 6464039 + T T A 3'UTR SNP NA NA NA NA UTR3 ENSG00000139190.16 ENST00000396308.3:c.*431A>T . . 12p13.31 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAMP1 157 0 87 81 0.482142857142857 TRUE NA +ENSG00000140398.14 . BCM GRCh38.p13 chr15 75347980 75347980 + C C G Intron SNP NA NA NA NA intronic ENSG00000140398.14 . . . 15q24.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEIL1 39 0 26 15 0.365853658536585 TRUE NA +ENSG00000263331.1 . BCM GRCh38.p13 chr16 21120931 21120931 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000263331.1 . . . 16p12.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC008551.1 379 1 410 119 0.224952741020794 TRUE NA +ENSG00000089505.17 . BCM GRCh38.p13 chr16 66567121 66567121 + T T A Intron SNP NA NA NA NA intronic ENSG00000089505.17;ENSG00000254788.7 . . . 16q21 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CMTM1 95 0 79 56 0.414814814814815 TRUE NA +ENSG00000167107.12 . BCM GRCh38.p13 chr17 50426977 50426977 + A A G Intron SNP NA NA NA NA intronic ENSG00000167107.12 . . . 17q21.33 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACSF2 150 0 67 32 0.323232323232323 TRUE TRUE +ENSG00000005206.17 . BCM GRCh38.p13 chr19 2341340 2341340 + T T C Intron SNP NA NA NA NA intronic ENSG00000005206.17 . . . 19p13.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPPL2B 266 1 132 61 0.316062176165803 TRUE NA +ENSG00000141867.17 . BCM GRCh38.p13 chr19 15253766 15253766 + C C A Intron SNP NA NA NA NA intronic ENSG00000141867.17 . . . 19p13.12 C3L-01313 . . . . . . . . . 2.14 D D . . . N . T N 0.135 T T T 0.013 0.247 0.110 . . . T T T T 0.420 5.651 0.776 N N -1.100 0.306 -1.249 0.245 1.000 0.461 0.577 0.576 0.509 . 1.680 -0.803 1.184 0.645 -0.202 0.002 0.015 0.001 862 . . . . BRD4 92 0 70 4 0.0540540540540541 TRUE TRUE +ENSG00000230366.9 . BCM GRCh38.p13 chr21 37221464 37221464 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000230366.9;ENSG00000242553.1 . . . 21q22.13 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DSCR9 280 0 182 76 0.294573643410853 TRUE NA +ENSG00000197056.11 . BCM GRCh38.p13 chr1 35110373 35110374 + TG TG CT Unknown MNP ENST00000359858.9 exon7 c.887_888delinsCT p.L296S exonic ENSG00000197056.11 . nonframeshift substitution ENSG00000197056.11:ENST00000359858.9:exon7:c.887_888delinsCT:p.L296S 1p34.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZMYM1 100 0 80 13 0.139784946236559 TRUE TRUE +ENSG00000115705.22 . BCM GRCh38.p13 chr2 1496094 1496096 + GCC GCC CCA Unknown MNP ENST00000329066.9 exon12 c.2112_2114delinsCCA p.P705H exonic ENSG00000115705.22 . nonframeshift substitution ENSG00000115705.22:ENST00000329066.9:exon12:c.2112_2114delinsCCA:p.P705H 2p25.3 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TPO 536 0 335 86 0.204275534441805 TRUE NA +ENSG00000146109.5 . BCM GRCh38.p13 chr6 26598624 26598625 + TT TT AC Unknown MNP ENST00000274849.3 exon3 c.798_799delinsAC p.S267P exonic ENSG00000146109.5 . nonframeshift substitution ENSG00000146109.5:ENST00000274849.3:exon3:c.798_799delinsAC:p.S267P 6p22.2 C3L-01313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABT1 19 0 15 9 0.375 TRUE TRUE +ENSG00000204060.7 . BCM GRCh38.p13 chr1 41382442 41382442 + C C G Missense_Mutation SNP ENST00000641094.1 exon3 c.C1240G p.L414V exonic ENSG00000204060.7 . nonsynonymous SNV ENSG00000204060.7:ENST00000641094.1:exon3:c.C1240G:p.L414V 1p34.2 C3L-01352 . . . . . . . . . 2.9 . . . . . N . . . . . . D . . . . . T T T T T 0.992 11.520 0.960 D N -0.071 2.270 -0.112 2.013 1.000 0.652 0.596 0.641 0.562 . 3.410 3.410 1.153 0.829 0.398 0.038 0.969 0.140 848 . . . . FOXO6 34 0 35 18 0.339622641509434 TRUE TRUE +ENSG00000122483.17 . BCM GRCh38.p13 chr1 93236371 93236371 + G G T Nonsense_Mutation SNP ENST00000343253.11 exon19 c.G2581T p.E861X exonic ENSG00000122483.17 . stopgain ENSG00000122483.17:ENST00000343253.11:exon19:c.G2581T:p.E861X 1p22.1 C3L-01352 . . . . . . . . . 5.7 . . . . N A . . . 0.482 . . . . . . . . . D D D . 8.268 42 0.994 D N 0.884 10.650 0.673 7.270 0.808 0.732 0.744 0.710 0.655 . 4.470 3.550 4.666 0.224 0.676 1.000 0.994 0.949 433 . . . . CCDC18 63 0 25 9 0.264705882352941 TRUE TRUE +ENSG00000143278.5 . BCM GRCh38.p13 chr1 197055842 197055842 + G G T Missense_Mutation SNP ENST00000367412.2 exon8 c.C1227A p.D409E exonic ENSG00000143278.5 . nonsynonymous SNV ENSG00000143278.5:ENST00000367412.2:exon8:c.C1227A:p.D409E 1q31.3 C3L-01352 . . . . . . . . . 2.20 D T B B N N N T N 0.160 T T D 0.032 0.496 0.461 0.174 T T T T T T -0.147 0.663 0.764 N N -1.568 0.062 -1.562 0.086 0.000 0.487 0.574 0.574 0.613 . 6.070 -2.160 -0.452 -0.066 -0.600 0.000 0.002 0.001 198 Sushi/SCR/CCP_domain . . . F13B 224 0 83 24 0.224299065420561 TRUE TRUE +ENSG00000143850.16 . BCM GRCh38.p13 chr1 204261367 204261367 + C C T Missense_Mutation SNP ENST00000272203.8 exon7 c.G463A p.E155K exonic ENSG00000143850.16 . nonsynonymous SNV ENSG00000143850.16:ENST00000272203.8:exon7:c.G463A:p.E155K 1q32.1 C3L-01352 8.251e-06 0 0 0 0 0 0 6.07e-05 rs768992797 13.20 D D D D D D L T N 0.634 T T D 0.461 0.533 0.231 0.360 T T D D D D 4.103 27.800 0.999 D D 0.553 5.479 0.614 6.408 1.000 0.615 0.563 0.659 0.568 . 5.560 5.560 7.051 1.026 0.599 1.000 0.998 0.999 829 Pleckstrin_homology_domain . . . PLEKHA6 252 0 214 94 0.305194805194805 TRUE NA +ENSG00000153207.16 . BCM GRCh38.p13 chr1 246885516 246885516 + - NA TGAAGGATAACGT Frame_Shift_Ins INS ENST00000648844.2 exon21 c.2636_2637insACGTTATCCTTCA p.H879Qfs*12 exonic ENSG00000153207.16 . frameshift insertion ENSG00000153207.16:ENST00000648844.2:exon21:c.2636_2637insACGTTATCCTTCA:p.H879Qfs*12 1q44 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHCTF1 NA NA NA NA NA NA NA +ENSG00000119760.16 . BCM GRCh38.p13 chr2 27655403 27655403 + G G - Frame_Shift_Del DEL ENST00000337768.10 exon5 c.944delC p.P315Hfs*17 exonic ENSG00000119760.16 . frameshift deletion ENSG00000119760.16:ENST00000337768.10:exon5:c.944delC:p.P315Hfs*17 2p23.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUPT7L 101 0 76 36 0.321428571428571 TRUE TRUE +ENSG00000135968.21 . BCM GRCh38.p13 chr2 108469795 108469795 + C C A Missense_Mutation SNP ENST00000309863.11 exon6 c.C466A p.L156M exonic ENSG00000135968.21 . nonsynonymous SNV ENSG00000135968.21:ENST00000309863.11:exon6:c.C466A:p.L156M 2q12.3 C3L-01352 . . . . . . . . . 6.20 D D D P N D M T N 0.390 T T T 0.092 0.230 0.386 0.209 T T T T T T 1.699 17.020 0.990 D N -0.094 2.194 -0.215 1.749 0.745 0.732 0.725 0.609 0.728 . 5.370 1.380 0.332 1.026 0.549 0.997 0.953 0.814 904 . . . . GCC2 126 0 83 5 0.0568181818181818 NA TRUE +ENSG00000175497.17 . BCM GRCh38.p13 chr2 115842338 115842338 + A A T Missense_Mutation SNP ENST00000410059.6 exon26 c.A2384T p.D795V exonic ENSG00000175497.17 . nonsynonymous SNV ENSG00000175497.17:ENST00000410059.6:exon26:c.A2384T:p.D795V 2q14.1 C3L-01352 . . . . . . . . . 14.20 D D D D D D M T D 0.426 T T D 0.306 0.331 0.353 0.765 T T D T D D 4.074 27.500 0.993 D D 0.722 7.438 0.730 8.357 0.687 0.638 0.574 0.653 0.564 . 5.930 5.930 7.721 1.312 0.756 1.000 1.000 0.958 865 . . . . DPP10 39 0 16 6 0.272727272727273 TRUE TRUE +ENSG00000183091.19 . BCM GRCh38.p13 chr2 151642827 151642827 + G G A Missense_Mutation SNP ENST00000172853.14 exon59 c.C8203T p.H2735Y exonic ENSG00000183091.19 . nonsynonymous SNV ENSG00000183091.19:ENST00000172853.14:exon59:c.C8203T:p.H2735Y 2q23.3 C3L-01352 . . . . . . . . . 11.20 D T D D D D M T D 0.749 T T T 0.317 0.581 0.420 0.365 T T T T D D 3.848 26.100 0.998 D D 0.953 12.499 0.937 15.423 1.000 0.487 0.547 0.547 0.564 . 5.970 5.970 9.940 1.176 0.676 1.000 0.944 0.975 881 . . . . NEB 62 0 25 8 0.242424242424242 TRUE TRUE +ENSG00000204335.4 . BCM GRCh38.p13 chr2 170716878 170716878 + C C G Missense_Mutation SNP ENST00000375281.4 exon2 c.C671G p.A224G exonic ENSG00000204335.4 . nonsynonymous SNV ENSG00000204335.4:ENST00000375281.4:exon2:c.C671G:p.A224G 2q31.1 C3L-01352 . . . . . . . . . 3.20 T T B B U N N T N 0.132 T T D 0.059 0.295 0.076 . D T T T T T 1.855 18.140 0.936 D N -0.770 0.700 -0.694 0.908 1.000 0.598 0.596 0.607 0.639 . 4.290 4.290 1.661 0.851 0.494 0.014 0.346 0.130 506 . . . . SP5 132 0 174 53 0.233480176211454 TRUE TRUE +ENSG00000128641.19 . BCM GRCh38.p13 chr2 191423869 191423869 + G G A Missense_Mutation SNP ENST00000392318.8 exon31 c.G3320A p.C1107Y exonic ENSG00000128641.19 . nonsynonymous SNV ENSG00000128641.19:ENST00000392318.8:exon31:c.G3320A:p.C1107Y 2q32.3 C3L-01352 . . . . . . . . . 12.20 D T D P D D L T D 0.753 T T T 0.444 0.516 0.345 1.447 D T D D D D 4.179 28.500 0.996 D D 0.727 7.516 0.781 9.596 1.000 0.706 0.588 0.710 0.613 . 5.780 5.780 9.072 1.176 0.676 1.000 1.000 0.998 534 Class_I_myosin_tail_homology_domain . . . MYO1B 84 0 35 11 0.239130434782609 TRUE TRUE +ENSG00000119041.11 . BCM GRCh38.p13 chr2 196778970 196778970 + G G A Missense_Mutation SNP ENST00000263956.8 exon10 c.C1316T p.S439F exonic ENSG00000119041.11 . nonsynonymous SNV ENSG00000119041.11:ENST00000263956.8:exon10:c.C1316T:p.S439F 2q33.1 C3L-01352 . . . . . . . . . 12.20 D D D P D D M T N 0.804 T T T 0.247 0.464 0.545 0.644 D T D T D D 4.482 32 0.996 D D 0.574 5.673 0.560 5.756 0.999 0.732 0.725 0.744 0.714 . 4.950 4.950 7.411 1.155 0.676 1.000 0.999 0.870 243 Tetratricopeptide_repeat-containing_domain . . . GTF3C3 295 0 134 46 0.255555555555556 TRUE TRUE +ENSG00000151093.8 . BCM GRCh38.p13 chr3 25791897 25791897 + C C T Nonsense_Mutation SNP ENST00000280701.8 exon2 c.C877T p.Q293X exonic ENSG00000151093.8 . stopgain ENSG00000151093.8:ENST00000280701.8:exon2:c.C877T:p.Q293X 3p24.2 C3L-01352 1.664e-05 0 0 0 0 3.026e-05 0 0 rs760886044 3.6 . . . . N A . . . 0.101 . . . . . . . . . D D . . 5.632 34 0.995 N N 0.489 4.954 0.255 3.466 1.000 0.660 0.663 0.659 0.636 . 6.160 4.290 0.816 1.026 0.599 0.014 0.955 0.734 590 Polyketide_synthase,_beta-ketoacyl_synthase_domain . . . OXSM 231 0 74 56 0.430769230769231 TRUE NA +ENSG00000186265.10 . BCM GRCh38.p13 chr3 112471335 112471335 + G G A Nonsense_Mutation SNP ENST00000334529.10 exon3 c.C424T p.R142X exonic ENSG00000186265.10 . stopgain ENSG00000186265.10:ENST00000334529.10:exon3:c.C424T:p.R142X 3q13.2 C3L-01352 8.243e-06 0 0 0 0 1.5e-05 0 0 rs780433132 3.6 . . . . N A . . . 0.761 . . . . . . . . . D D . . 5.106 33 0.988 N N -0.015 2.457 -0.371 1.425 1.000 0.722 0.699 0.547 0.564 . 4.000 1.060 0.808 -0.203 -0.194 0.327 0.011 0.030 830 . . . ID=COSV57938030;OCCURENCE=1(oesophagus) BTLA 154 0 104 31 0.22962962962963 TRUE TRUE +ENSG00000186432.9 . BCM GRCh38.p13 chr3 160521784 160521784 + C C A Missense_Mutation SNP ENST00000334256.9 exon11 c.G898T p.V300F exonic ENSG00000186432.9 . nonsynonymous SNV ENSG00000186432.9:ENST00000334256.9:exon11:c.G898T:p.V300F 3q25.33 C3L-01352 . . . . . . . . . 18.20 D D D D D D M T D 0.885 D D D 0.568 0.382 0.935 2.259 D T D D D D 4.641 32 0.996 D D 0.987 13.520 0.906 14.032 1.000 0.707 0.725 0.725 0.714 . 5.200 5.200 7.905 1.026 0.599 1.000 1.000 1.000 731 . . . . KPNA4 64 0 31 9 0.225 TRUE TRUE +ENSG00000169851.15 . BCM GRCh38.p13 chr4 30723488 30723488 + A A T Missense_Mutation SNP ENST00000361762.3 exon1 c.A2066T p.N689I exonic ENSG00000169851.15 . nonsynonymous SNV ENSG00000169851.15:ENST00000361762.3:exon1:c.A2066T:p.N689I 4p15.1 C3L-01352 . . . . . . . . . 11.19 D D D D . D L T D 0.856 T T D 0.435 0.448 0.607 . T T T T D D 4.098 27.700 0.989 D D 0.744 7.789 0.722 8.184 1.000 0.628 0.590 0.641 0.658 . 5.250 5.250 5.939 1.312 0.756 1.000 1.000 0.996 484 Cadherin-like . . . PCDH7 242 1 160 59 0.269406392694064 TRUE TRUE +ENSG00000156140.10 . BCM GRCh38.p13 chr4 72283603 72283603 + T T A Missense_Mutation SNP ENST00000286657.10 exon22 c.A3151T p.S1051C exonic ENSG00000156140.10 . nonsynonymous SNV ENSG00000156140.10:ENST00000286657.10:exon22:c.A3151T:p.S1051C 4q13.3 C3L-01352 . . . . . . . . . 9.20 D T P P D D L T D 0.389 T T D 0.189 0.341 0.780 0.376 T T T T D D 3.265 24.000 0.988 D D 0.234 3.456 0.265 3.521 0.793 0.657 0.616 0.673 0.584 . 5.560 4.180 2.325 1.138 0.609 1.000 0.937 0.902 641 PLAC . . . ADAMTS3 233 0 167 66 0.283261802575107 TRUE TRUE +ENSG00000137473.17 . BCM GRCh38.p13 chr4 146867542 146867542 + C C A Missense_Mutation SNP ENST00000325106.8 exon8 c.G841T p.G281C exonic ENSG00000137473.17 . nonsynonymous SNV ENSG00000137473.17:ENST00000325106.8:exon8:c.G841T:p.G281C 4q31.22 C3L-01352 . . . . . . . . . 17.20 D D D D D D M D D 0.716 D D D 0.679 0.761 0.789 0.102 T T D D D T 3.887 26.300 0.997 D D 0.704 7.170 0.637 6.721 0.041 0.554 0.574 0.574 0.621 . 5.450 5.450 4.026 1.026 0.549 1.000 1.000 0.854 933 Tetratricopeptide_repeat-containing_domain . . . TTC29 60 0 29 10 0.256410256410256 TRUE TRUE +ENSG00000151005.5 . BCM GRCh38.p13 chr4 163473364 163473364 + C C A Missense_Mutation SNP ENST00000280605.5 exon1 c.G371T p.G124V exonic ENSG00000151005.5 . nonsynonymous SNV ENSG00000151005.5:ENST00000280605.5:exon1:c.G371T:p.G124V 4q32.2 C3L-01352 . . . . . . . . . 15.20 D D D D D D M T D 0.932 T T D 0.526 0.976 0.810 0.623 T T D D D D 2.473 22.300 0.995 D D 0.307 3.818 0.093 2.706 1.000 0.500 0.574 0.624 0.613 . 3.750 2.870 5.921 0.931 0.599 1.000 0.115 0.020 987 Transketolase,_N-terminal . . ID=COSV54917889;OCCURENCE=3(lung) TKTL2 187 0 165 57 0.256756756756757 TRUE TRUE +ENSG00000154556.18 . BCM GRCh38.p13 chr4 185611868 185611868 + T T C Missense_Mutation SNP ENST00000284776.11 exon18 c.A2996G p.K999R exonic ENSG00000154556.18 . nonsynonymous SNV ENSG00000154556.18:ENST00000284776.11:exon18:c.A2996G:p.K999R 4q35.1 C3L-01352 . . . . . . . . . 2.20 T T B B N D N T N 0.118 T T T 0.018 0.454 0.102 0.160 T T T T T T 0.652 8.011 0.118 D N -1.063 0.340 -0.886 0.639 0.003 0.706 0.588 0.710 0.714 . 5.370 0.192 0.421 -0.148 -0.186 0.998 0.539 0.905 682 SH3_domain . . . SORBS2 194 0 94 30 0.241935483870968 TRUE TRUE +ENSG00000142319.18 . BCM GRCh38.p13 chr5 1441379 1441379 + T T A Missense_Mutation SNP ENST00000270349.12 exon3 c.A398T p.K133M exonic ENSG00000142319.18 . nonsynonymous SNV ENSG00000142319.18:ENST00000270349.12:exon3:c.A398T:p.K133M 5p15.33 C3L-01352 . . . . . . . . . 17.20 D D D D N D M T D 0.728 D D D 0.806 0.611 0.879 1.795 T D D D D D 4.126 28.000 0.995 D D 0.676 6.796 0.548 5.623 1.000 0.554 0.590 0.602 0.542 . 3.640 3.640 4.755 0.990 0.651 1.000 0.998 0.960 988 . . . . SLC6A3 334 0 419 146 0.258407079646018 TRUE TRUE +ENSG00000129595.13 . BCM GRCh38.p13 chr5 112205446 112205446 + G G A Missense_Mutation SNP ENST00000261486.6 exon14 c.C1237T p.P413S exonic ENSG00000129595.13 . nonsynonymous SNV ENSG00000129595.13:ENST00000261486.6:exon14:c.C1237T:p.P413S 5q22.2 C3L-01352 . . . . . . . . rs868831826 17.20 D D D D D D L D D 0.452 D D D 0.431 0.153 0.956 0.236 T T D D D D 3.616 25.100 0.999 D D 0.676 6.791 0.601 6.231 1.000 0.706 0.547 0.676 0.613 . 5.490 5.490 6.058 1.172 0.672 1.000 0.948 0.938 414 . . . . EPB41L4A 246 0 109 42 0.278145695364238 TRUE NA +ENSG00000253731.3 . BCM GRCh38.p13 chr5 141374721 141374721 + C C T Missense_Mutation SNP ENST00000517434.3 exon1 c.C638T p.T213I exonic ENSG00000253731.3 . nonsynonymous SNV ENSG00000253731.3:ENST00000517434.3:exon1:c.C638T:p.T213I 5q31.3 C3L-01352 . . . . . . . . . 3.19 T T B B U N M T D 0.172 T T T 0.096 0.537 0.408 0.420 . T T T T D 1.912 18.580 0.985 N N -0.334 1.532 -0.291 1.583 1.000 0.646 0.588 0.645 0.621 . 4.990 4.110 0.004 0.138 0.599 0.000 0.946 0.842 651 Cadherin-like . . . PCDHGA6 272 0 286 113 0.283208020050125 TRUE TRUE +ENSG00000261934.2 . BCM GRCh38.p13 chr5 141404862 141404862 + C C T Missense_Mutation SNP ENST00000573521.1 exon1 c.C1910T p.A637V exonic ENSG00000261934.2 . nonsynonymous SNV ENSG00000261934.2:ENST00000573521.1:exon1:c.C1910T:p.A637V 5q31.3 C3L-01352 4.973e-05 0.0006 0 0 0 0 0 0 rs377687399 0.13 . T B B . N L T . 0.047 . . T . . 0.837 0.463 . T T T . T 1.116 12.920 0.961 N N . . . . 0.802 0.549 0.588 0.576 0.616 . 5.280 2.480 -0.696 -0.264 -0.172 0.000 0.002 0.043 809 Cadherin-like . . ID=COSV99533589;OCCURENCE=1(large_intestine),1(stomach),1(lung) PCDHGA9 246 0 305 78 0.203655352480418 TRUE NA +ENSG00000070614.15 . BCM GRCh38.p13 chr5 150535006 150535006 + C C A Missense_Mutation SNP ENST00000261797.7 exon5 c.C1236A p.N412K exonic ENSG00000070614.15 . nonsynonymous SNV ENSG00000070614.15:ENST00000261797.7:exon5:c.C1236A:p.N412K 5q33.1 C3L-01352 . . . . . . . . . 14.20 D D P B D D M T D 0.881 D T D 0.455 0.681 0.674 1.799 D D T T D D 3.402 24.400 0.997 D D 0.732 7.594 0.718 8.106 1.000 0.719 0.725 0.723 0.714 . 5.020 5.020 7.858 1.026 0.599 1.000 1.000 0.999 883 Heparan_sulphate-N-deacetylase . . . NDST1 249 0 291 109 0.2725 TRUE TRUE +ENSG00000137266.14 . BCM GRCh38.p13 chr6 3289794 3289794 + C C G Missense_Mutation SNP ENST00000406686.7 exon6 c.G1283C p.W428S exonic ENSG00000137266.14 . nonsynonymous SNV ENSG00000137266.14:ENST00000406686.7:exon6:c.G1283C:p.W428S 6p25.2 C3L-01352 . . . . . . . . . 17.20 D D D D D D M T D 0.873 T T D 0.559 0.706 0.776 1.341 D D D D D D 4.224 28.900 0.991 D D 0.720 7.407 0.672 7.265 1.000 0.696 0.588 0.723 0.655 . 4.330 4.330 7.215 1.026 0.599 1.000 0.999 0.992 900 Major_facilitator_superfamily_domain . . . SLC22A23 240 0 223 82 0.268852459016393 TRUE TRUE +ENSG00000155085.15 . BCM GRCh38.p13 chr6 109506331 109506331 + T T - Frame_Shift_Del DEL ENST00000424296.6 exon35 c.4845delA p.A1616Qfs*60 exonic ENSG00000155085.15 . frameshift deletion ENSG00000155085.15:ENST00000424296.6:exon35:c.4845delA:p.A1616Qfs*60 6q21 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AK9 70 0 39 4 0.0930232558139535 NA TRUE +ENSG00000155034.19 . BCM GRCh38.p13 chr7 5500965 5500965 + G G T Missense_Mutation SNP ENST00000382368.8 exon3 c.C1304A p.A435E exonic ENSG00000155034.19 . nonsynonymous SNV ENSG00000155034.19:ENST00000382368.8:exon3:c.C1304A:p.A435E 7p22.1 C3L-01352 . . . . . . . . . 0.19 T T B B N N L T N 0.126 T T T 0.047 0.120 0.566 0.768 T . T T T T -0.057 1.019 0.845 N N -0.849 0.587 -0.939 0.569 0.578 0.646 0.577 0.645 0.636 . 5.360 0.418 0.599 -0.274 -0.185 0.001 0.002 0.004 906 . . . . FBXL18 67 0 44 27 0.380281690140845 TRUE TRUE +ENSG00000169902.15 . BCM GRCh38.p13 chr7 66286569 66286569 + T T C Missense_Mutation SNP ENST00000304842.6 exon3 c.T904C p.W302R exonic ENSG00000169902.15 . nonsynonymous SNV ENSG00000169902.15:ENST00000304842.6:exon3:c.T904C:p.W302R 7q11.21 C3L-01352 . . . . . . . . . 17.20 D D D D D D M T D 0.989 T T D 0.749 0.915 0.898 1.315 D D D D D D 4.166 28.300 0.997 D D 0.816 9.107 0.755 8.914 1.000 0.706 0.670 0.710 0.613 . 5.560 5.560 7.032 1.137 0.607 1.000 1.000 0.999 501 . . . . TPST1 318 0 131 49 0.272222222222222 TRUE TRUE +ENSG00000198846.6 . BCM GRCh38.p13 chr8 58826829 58826829 + A A T Missense_Mutation SNP ENST00000361421.2 exon6 c.T998A p.V333E exonic ENSG00000198846.6 . nonsynonymous SNV ENSG00000198846.6:ENST00000361421.2:exon6:c.T998A:p.V333E 8q12.1 C3L-01352 . . . . . . . . . 15.20 T T D D D D M T D 0.873 T T D 0.499 0.303 0.151 1.218 D D D D D D 4.244 29.100 0.991 D D 0.661 6.603 0.692 7.597 1.000 0.706 0.660 0.710 0.632 . 5.670 5.670 9.290 1.312 0.756 1.000 1.000 0.985 938 . . . . TOX 113 0 102 38 0.271428571428571 TRUE TRUE +ENSG00000172817.4 . BCM GRCh38.p13 chr8 64604701 64604701 + T T A Missense_Mutation SNP ENST00000310193.4 exon5 c.A1214T p.E405V exonic ENSG00000172817.4 . nonsynonymous SNV ENSG00000172817.4:ENST00000310193.4:exon5:c.A1214T:p.E405V 8q12.3 C3L-01352 . . . . . . . . . 18.20 D D D D D D M T D 0.696 D D D 0.664 0.639 0.779 0.473 T D D D D D 4.212 28.800 0.991 D D 0.743 7.763 0.702 7.797 1.000 0.476 0.602 0.547 0.564 . 6.170 6.170 7.666 1.138 0.665 1.000 0.995 0.837 749 . . . . CYP7B1 337 0 135 49 0.266304347826087 TRUE TRUE +ENSG00000046889.19 . BCM GRCh38.p13 chr8 68093698 68093698 + G G T Missense_Mutation SNP ENST00000288368.5 exon21 c.G2344T p.D782Y exonic ENSG00000046889.19 . nonsynonymous SNV ENSG00000046889.19:ENST00000288368.5:exon21:c.G2344T:p.D782Y 8q13.2 C3L-01352 . . . . . . . . . 8.20 D D B B D D L T N 0.509 T T T 0.196 0.488 0.392 0.184 T T D T D T 3.483 24.700 0.991 D D 0.235 3.464 0.407 4.406 1.000 0.706 0.574 0.710 0.714 . 5.670 5.670 7.211 1.176 0.676 1.000 0.999 0.996 102 . . . . PREX2 85 0 35 6 0.146341463414634 TRUE TRUE +ENSG00000079112.10 . BCM GRCh38.p13 chr8 94176571 94176571 + C C T Missense_Mutation SNP ENST00000027335.8 exon5 c.G394A p.E132K exonic ENSG00000079112.10 . nonsynonymous SNV ENSG00000079112.10:ENST00000027335.8:exon5:c.G394A:p.E132K 8q22.1 C3L-01352 8.245e-05 0 0 0.0009 0 1.499e-05 0 6.059e-05 rs772250943 1.20 T T B B N N L T N 0.299 T T T 0.126 0.571 0.671 0.082 T T T T T D 1.388 15.000 0.472 N N -0.782 0.682 -0.626 1.007 0.009 0.516 0.610 0.574 0.530 . 5.930 3.900 0.164 0.109 -0.218 0.041 0.377 0.100 858 Cadherin-like . . ID=COSV104541244;OCCURENCE=1(skin) CDH17 159 0 122 40 0.246913580246914 TRUE NA +ENSG00000153317.15 . BCM GRCh38.p13 chr8 130134339 130134339 + T T A Nonsense_Mutation SNP ENST00000518721.6 exon15 c.A1174T p.R392X exonic ENSG00000153317.15 . stopgain ENSG00000153317.15:ENST00000518721.6:exon15:c.A1174T:p.R392X 8q24.21 C3L-01352 . . . . . . . . . 5.6 . . . . D A . . . 0.898 . . . . . . . . . D D . . 7.186 37 0.998 D N 0.921 11.595 0.754 8.905 1.000 0.732 0.654 0.744 0.735 . 5.950 4.780 3.278 0.142 0.665 1.000 0.995 0.993 898 Pleckstrin_homology_domain;ASAP,_PH_domain . . . ASAP1 54 0 31 8 0.205128205128205 TRUE TRUE +ENSG00000107186.16 . BCM GRCh38.p13 chr9 13193169 13193169 + C C - Frame_Shift_Del DEL ENST00000319217.11 exon14 c.1801delG p.E601Kfs*2 exonic ENSG00000107186.16 . frameshift deletion ENSG00000107186.16:ENST00000319217.11:exon14:c.1801delG:p.E601Kfs*2 9p23 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPDZ 67 0 34 17 0.333333333333333 TRUE TRUE +ENSG00000198000.12 . BCM GRCh38.p13 chr9 92297841 92297841 + T T C Missense_Mutation SNP ENST00000442668.7 exon17 c.A3499G p.K1167E exonic ENSG00000198000.12 . nonsynonymous SNV ENSG00000198000.12:ENST00000442668.7:exon17:c.A3499G:p.K1167E 9q22.31 C3L-01352 . . . . . . . . . 6.20 D D P P N D M T N 0.368 T T T 0.032 0.300 0.120 0.068 T T T T D T 3.828 26.000 0.994 D N 0.311 3.834 0.332 3.907 1.000 0.722 0.699 0.725 0.714 . 5.030 3.810 3.314 1.138 0.609 1.000 0.999 0.985 963 . . . . NOL8 50 0 34 12 0.260869565217391 TRUE TRUE +ENSG00000165219.22 . BCM GRCh38.p13 chr9 125360594 125360594 + A A C Missense_Mutation SNP ENST00000394104.6 exon24 c.A4165C p.T1389P exonic ENSG00000165219.22 . nonsynonymous SNV ENSG00000165219.22:ENST00000394104.6:exon24:c.A4165C:p.T1389P 9q33.3 C3L-01352 . . . . . . . . . 16.20 D D D D D D M T D 0.754 T T D 0.759 0.686 0.764 2.292 D T D D D D 4.243 29.100 0.997 D D 0.885 10.681 0.855 11.960 1.000 0.707 0.725 0.725 0.714 . 5.820 5.820 9.325 1.312 0.691 1.000 0.998 0.997 830 VPS9_domain . . ID=COSV52922173;OCCURENCE=1(large_intestine),1(skin),1(endometrium) GAPVD1 459 1 320 89 0.21760391198044 TRUE TRUE +ENSG00000120616.16 . BCM GRCh38.p13 chr10 32272029 32272029 + A A G Missense_Mutation SNP ENST00000263062.8 exon13 c.T2071C p.S691P exonic ENSG00000120616.16 . nonsynonymous SNV ENSG00000120616.16:ENST00000263062.8:exon13:c.T2071C:p.S691P 10p11.22 C3L-01352 . . . . . . . . . 10.19 D D D P N D L . N 0.591 T T T 0.283 0.725 0.514 0.947 T T D D D D 4.067 27.500 0.998 D D 0.534 5.315 0.564 5.804 1.000 0.707 0.725 0.725 0.711 . 5.690 5.690 5.379 1.312 0.688 1.000 0.999 0.939 535 Enhancer_of_polycomb,_C-terminal . . . EPC1 112 0 61 20 0.246913580246914 TRUE TRUE +ENSG00000152778.9 . BCM GRCh38.p13 chr10 89417386 89417386 + C C A Missense_Mutation SNP ENST00000371795.5 exon2 c.C187A p.L63I exonic ENSG00000152778.9 . nonsynonymous SNV ENSG00000152778.9:ENST00000371795.5:exon2:c.C187A:p.L63I 10q23.31 C3L-01352 . . . . . . . . . 15.20 D D D D N D M D N 0.336 D D D 0.511 0.683 0.937 0.716 T T D D D D 2.651 22.700 0.996 D N 0.556 5.505 0.490 5.071 0.999 0.624 0.581 0.668 0.586 . 6.030 4.180 0.055 1.026 0.599 0.145 1.000 0.999 876 . . . . IFIT5 156 1 37 15 0.288461538461538 TRUE TRUE +ENSG00000183020.14 . BCM GRCh38.p13 chr11 1010550 1010550 + G G A Missense_Mutation SNP ENST00000448903.7 exon22 c.G2745A p.M915I exonic ENSG00000183020.14 . nonsynonymous SNV ENSG00000183020.14:ENST00000448903.7:exon22:c.G2745A:p.M915I 11p15.5 C3L-01352 . . . . . . . . . 12.20 D D B B D D M T D 0.826 T T D 0.246 0.805 0.570 0.975 T D T T D D 3.260 24.000 0.963 D D 0.047 2.681 0.065 2.594 0.999 0.707 0.702 0.723 0.714 . 3.550 2.580 7.852 1.145 0.606 1.000 1.000 0.975 835 Clathrin_adaptor,_alpha-adaptin,_appendage,_C-terminal_subdomain . . . AP2A2 94 0 93 53 0.363013698630137 TRUE TRUE +ENSG00000184956.16 . BCM GRCh38.p13 chr11 1018413 1018413 + A A T Missense_Mutation SNP ENST00000421673.7 exon31 c.T4388A p.I1463N exonic ENSG00000184956.16 . nonsynonymous SNV ENSG00000184956.16:ENST00000421673.7:exon31:c.T4388A:p.I1463N 11p15.5 C3L-01352 . . . . . . . . . 1.18 D T P B . N L T N 0.209 T T T 0.041 0.167 0.306 0.161 T T T T T . -0.158 0.627 0.805 N N -0.860 0.572 -1.053 0.426 0.649 0.660 0.694 0.517 0.664 . 2.560 -0.248 -2.550 -0.160 -0.181 0.000 0.000 0.004 825 . . . . MUC6 596 0 589 185 0.239018087855297 NA TRUE +ENSG00000053918.18 . BCM GRCh38.p13 chr11 2583459 2583459 + G G - Frame_Shift_Del DEL ENST00000155840.12 exon7 c.946delG p.D317Tfs*37 exonic ENSG00000053918.18 . frameshift deletion ENSG00000053918.18:ENST00000155840.12:exon7:c.946delG:p.D317Tfs*37 11p15.5 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNQ1 557 0 564 215 0.27599486521181 TRUE TRUE +ENSG00000110171.20 . BCM GRCh38.p13 chr11 6457386 6457386 + A A T Missense_Mutation SNP ENST00000345851.8 exon5 c.T606A p.S202R exonic ENSG00000110171.20 . nonsynonymous SNV ENSG00000110171.20:ENST00000345851.8:exon5:c.T606A:p.S202R 11p15.4 C3L-01352 . . . . . . . . . 4.20 T T B B D N L D N 0.637 T T D 0.149 0.292 0.093 0.030 T T T T T D 0.949 10.990 0.832 N N -0.618 0.955 -0.600 1.047 0.010 0.706 0.709 0.710 0.714 . 5.150 -2.060 0.211 -0.702 -0.054 0.049 0.912 0.990 732 B-box,_C-terminal . . . TRIM3 278 0 265 124 0.318766066838046 TRUE TRUE +ENSG00000072952.18 . BCM GRCh38.p13 chr11 10576337 10576337 + G G A Nonsense_Mutation SNP ENST00000531107.5 exon20 c.C2710T p.Q904X exonic ENSG00000072952.18 . stopgain ENSG00000072952.18:ENST00000531107.5:exon20:c.C2710T:p.Q904X 11p15.4 C3L-01352 . . . . . . . . . 3.6 . . . . N D . . . 0.277 . . . . . . . . . D D . . 7.765 39 0.992 N N 0.915 11.455 0.748 8.753 0.200 0.615 0.590 0.659 0.568 . 5.820 4.920 2.082 1.176 0.676 1.000 0.980 0.887 450 . . . . MRVI1 229 0 199 89 0.309027777777778 TRUE TRUE +ENSG00000110422.12 . BCM GRCh38.p13 chr11 33337088 33337088 + C C A Missense_Mutation SNP ENST00000303296.9 exon4 c.C1235A p.S412Y exonic ENSG00000110422.12 . nonsynonymous SNV ENSG00000110422.12:ENST00000303296.9:exon4:c.C1235A:p.S412Y 11p13 C3L-01352 . . . . . . . . . 15.20 D D D D D D L T D 0.944 T T D 0.444 0.651 0.808 0.828 D T D D D D 4.035 27.200 0.995 D D 0.628 6.222 0.663 7.109 1.000 0.732 0.709 0.710 0.728 . 5.060 5.060 7.905 1.026 0.599 1.000 1.000 1.000 378 Protein_kinase_domain . . . HIPK3 29 0 25 6 0.193548387096774 NA TRUE +ENSG00000175634.15 . BCM GRCh38.p13 chr11 67428570 67428570 + T T A Missense_Mutation SNP ENST00000312629.10 exon1 c.T25A p.L9M exonic ENSG00000175634.15 . nonsynonymous SNV ENSG00000175634.15:ENST00000312629.10:exon1:c.T25A:p.L9M 11q13.2 C3L-01352 . . . . . . . . . 12.20 D D D D D D L D N 0.529 D D D 0.339 0.264 0.902 0.440 D T T T D T 2.843 23.100 0.797 N N -0.383 1.420 -0.542 1.136 1.000 0.442 0.522 0.391 0.373 . 4.720 -4.510 0.109 -0.588 -0.703 0.770 0.985 0.964 658 . . . . RPS6KB2 212 0 235 75 0.241935483870968 TRUE TRUE +ENSG00000214376.6 . BCM GRCh38.p13 chr11 93820583 93820583 + C C T Missense_Mutation SNP ENST00000409977.2 exon4 c.G589A p.D197N exonic ENSG00000214376.6 . nonsynonymous SNV ENSG00000214376.6:ENST00000409977.2:exon4:c.G589A:p.D197N 11q21 C3L-01352 . . . . . . . . . 0.19 T T B B U N N . N 0.047 T T T 0.040 0.127 0.030 . T T T T T T 1.428 15.270 0.945 N N -0.626 0.941 -0.497 1.207 0.995 0.495 0.574 0.535 0.568 . 5.770 3.700 0.711 1.026 0.599 0.247 0.047 0.326 754 . . . . VSTM5 210 0 110 39 0.261744966442953 TRUE TRUE +ENSG00000180116.15 . BCM GRCh38.p13 chr12 39683060 39683060 + G G C Missense_Mutation SNP ENST00000324616.9 exon8 c.G1136C p.R379T exonic ENSG00000180116.15 . nonsynonymous SNV ENSG00000180116.15:ENST00000324616.9:exon8:c.G1136C:p.R379T 12q12 C3L-01352 . . . . . . . . . 2.19 D D B B N N N T N 0.274 T T T 0.026 0.254 0.099 0.023 . T T T T T 1.188 13.540 0.763 N N -1.057 0.346 -1.046 0.434 0.006 0.542 0.460 0.547 0.564 . 5.170 -0.119 0.526 -0.201 -0.194 0.715 0.214 0.145 549 . . . . C12orf40 35 0 23 13 0.361111111111111 TRUE TRUE +ENSG00000188906.16 . BCM GRCh38.p13 chr12 40367041 40367041 + A A T Missense_Mutation SNP ENST00000298910.12 exon50 c.A7426T p.N2476Y exonic ENSG00000188906.16 . nonsynonymous SNV ENSG00000188906.16:ENST00000298910.12:exon50:c.A7426T:p.N2476Y 12q12 C3L-01352 . . . . . . . . . 0.20 T T B B N N L T N 0.264 T T T 0.051 0.447 0.693 0.249 T T T T T T 1.336 14.640 0.567 N N -0.988 0.417 -0.982 0.511 0.003 0.554 0.588 0.574 0.613 . 5.420 1.330 0.213 1.312 0.691 0.001 0.663 0.914 788 . . . . LRRK2 91 0 69 34 0.330097087378641 TRUE TRUE +ENSG00000185479.6 . BCM GRCh38.p13 chr12 52447261 52447261 + C C G Missense_Mutation SNP ENST00000252252.4 exon9 c.G1624C p.V542L exonic ENSG00000185479.6 . nonsynonymous SNV ENSG00000185479.6:ENST00000252252.4:exon9:c.G1624C:p.V542L 12q13.13 C3L-01352 . . . . . . . . . 2.20 T T B B N N N D N 0.089 T T D 0.150 0.363 0.577 0.170 T T T T T T -0.892 0.015 0.228 N N -1.523 0.074 -1.619 0.070 0.978 0.497 0.590 0.547 0.542 . 2.390 -4.790 -1.963 -0.382 0.526 0.000 0.001 0.601 611 . . . . KRT6B 366 0 436 26 0.0562770562770563 NA TRUE +ENSG00000196531.13 . BCM GRCh38.p13 chr12 56713665 56713665 + G G C Missense_Mutation SNP ENST00000454682.6 exon6 c.C5842G p.L1948V exonic ENSG00000196531.13 . nonsynonymous SNV ENSG00000196531.13:ENST00000454682.6:exon6:c.C5842G:p.L1948V 12q13.3 C3L-01352 . . . . . . . . . 17.19 D D D D D D H T D 0.768 D D D 0.803 0.587 0.933 2.352 D T D D D D 4.138 28.100 0.997 D . 0.938 12.086 0.860 12.155 1.000 0.672 0.702 0.702 0.711 . 5.150 5.150 8.021 1.176 0.676 1.000 1.000 0.995 45 Nascent_polypeptide-associated_complex_NAC_domain . . ID=COSV100771542;OCCURENCE=1(upper_aerodigestive_tract) NACA 109 0 60 4 0.0625 NA TRUE +ENSG00000072041.17 . BCM GRCh38.p13 chr12 84870616 84870616 + A A C Missense_Mutation SNP ENST00000266682.10 exon9 c.T1357G p.F453V exonic ENSG00000072041.17 . nonsynonymous SNV ENSG00000072041.17:ENST00000266682.10:exon9:c.T1357G:p.F453V 12q21.31 C3L-01352 . . . . . . . . . 18.20 D D D D D D M T D 0.843 D D D 0.762 0.532 0.922 1.103 D T D D D D 4.103 27.800 0.991 D D 0.837 9.548 0.801 10.167 1.000 0.615 0.574 0.659 0.621 . 5.300 5.300 8.836 1.284 0.750 1.000 1.000 0.998 884 . . . . SLC6A15 134 0 53 21 0.283783783783784 TRUE TRUE +ENSG00000184564.11 . BCM GRCh38.p13 chr13 85796418 85796418 + A A G Missense_Mutation SNP ENST00000647374.2 exon2 c.T91C p.C31R exonic ENSG00000184564.11 . nonsynonymous SNV ENSG00000184564.11:ENST00000647374.2:exon2:c.T91C:p.C31R 13q31.1 C3L-01352 . . . . . . . . . 15.20 D D D D D D M T D 0.963 T T D 0.735 0.822 0.931 0.371 T D D D D T 4.088 27.600 0.994 D D 0.819 9.153 0.795 9.967 1.000 0.487 0.574 0.547 0.564 . 6.170 6.170 8.947 1.312 0.756 1.000 0.923 0.657 973 . . . . SLITRK6 61 0 28 12 0.3 TRUE TRUE +ENSG00000165762.3 . BCM GRCh38.p13 chr14 19876761 19876761 + C C T Missense_Mutation SNP ENST00000641885.1 exon2 c.C494T p.T165M exonic ENSG00000165762.3 . nonsynonymous SNV ENSG00000165762.3:ENST00000641885.1:exon2:c.C494T:p.T165M 14q11.2 C3L-01352 2.471e-05 0.0003 0 0 0 0 0 0 rs532614465 2.20 D D B B N N L T N 0.141 T T T 0.036 . 0.240 0.001 T T T T T T -0.387 0.205 0.878 N N -1.375 0.128 -1.318 0.197 0.823 0.487 0.574 0.574 0.564 . 5.120 -0.970 -4.150 -2.925 -4.007 0.000 0.016 0.031 988 GPCR,_rhodopsin-like,_7TM . . ID=COSV53849963;OCCURENCE=2(large_intestine),1(stomach),1(urinary_tract) OR4K2 856 0 437 33 0.0702127659574468 TRUE TRUE +ENSG00000100867.15 . BCM GRCh38.p13 chr14 23639210 23639210 + C C T Missense_Mutation SNP ENST00000250383.11 exon3 c.C172T p.R58W exonic ENSG00000100867.15 . nonsynonymous SNV ENSG00000100867.15:ENST00000250383.11:exon3:c.C172T:p.R58W 14q11.2 C3L-01352 1.669e-05 0.0002 0 0 0 0 0 0 rs74036809 8.20 D D D P N N M T D 0.285 T T T 0.052 . 0.186 0.110 T D T T D T 1.878 18.320 0.997 D N -0.354 1.485 -0.541 1.137 1.000 0.615 0.610 0.659 0.586 . 4.910 0.990 0.518 -0.289 -0.233 0.099 0.079 0.026 798 . . . ID=COSV99160010;OCCURENCE=1(pancreas) DHRS2 125 0 145 54 0.271356783919598 TRUE NA +ENSG00000183578.8 . BCM GRCh38.p13 chr15 51105174 51105174 + C C T Translation_Start_Site SNP ENST00000327536.5 exon1 c.G3A p.M1? exonic ENSG00000183578.8 . startloss ENSG00000183578.8:ENST00000327536.5:exon1:c.G3A:p.M1? 15q21.2 C3L-01352 . . . . . . . . . 4.17 D D B B . D . T N 0.060 T T T 0.062 0.878 0.030 . . T T T T D 0.386 5.275 0.955 N N -0.999 0.405 -1.121 0.355 1.000 0.554 0.563 0.602 0.632 . 3.070 -1.310 -0.807 0.948 0.530 0.000 0.051 0.081 354 . . . . TNFAIP8L3 116 0 101 24 0.192 TRUE TRUE +ENSG00000166415.15 . BCM GRCh38.p13 chr15 53715301 53715301 + C C A Missense_Mutation SNP ENST00000360509.10 exon5 c.G406T p.V136F exonic ENSG00000166415.15 . nonsynonymous SNV ENSG00000166415.15:ENST00000360509.10:exon5:c.G406T:p.V136F 15q21.3 C3L-01352 . . . . . . . . . 5.20 D D P B N N M T D 0.816 T T T 0.183 0.551 0.076 0.048 T T T T D T 2.157 20.500 0.981 N N -0.457 1.262 -0.582 1.073 0.005 0.487 0.574 0.574 0.564 . 5.710 -5.620 0.137 0.130 -0.181 0.811 0.925 0.937 917 . . . . WDR72 207 0 83 17 0.17 TRUE TRUE +ENSG00000166450.13 . BCM GRCh38.p13 chr15 55673373 55673373 + T T C Missense_Mutation SNP ENST00000389286.9 exon10 c.A1850G p.K617R exonic ENSG00000166450.13 . nonsynonymous SNV ENSG00000166450.13:ENST00000389286.9:exon10:c.A1850G:p.K617R 15q21.3 C3L-01352 . . . . . . . . . 2.20 T T B B N D N T N 0.134 T T T 0.031 0.259 0.187 0.074 T T T T T T 1.493 15.690 0.944 D N -0.571 1.040 -0.479 1.236 0.000 0.615 0.574 0.602 0.655 . 4.670 1.010 0.453 0.202 -0.120 0.994 0.991 0.844 596 . . . . PRTG 148 0 106 53 0.333333333333333 TRUE TRUE +ENSG00000166450.13 . BCM GRCh38.p13 chr15 55740460 55740460 + C C G Missense_Mutation SNP ENST00000389286.9 exon2 c.G319C p.D107H exonic ENSG00000166450.13 . nonsynonymous SNV ENSG00000166450.13:ENST00000389286.9:exon2:c.G319C:p.D107H 15q21.3 C3L-01352 . . . . . . . . . 16.20 D D D D U D M D D 0.538 D D D 0.701 0.927 0.715 0.423 T T D T D D 2.918 23.200 0.993 D D 0.523 5.215 0.416 4.474 1.000 0.677 0.563 0.673 0.655 . 5.390 3.430 4.574 1.026 0.599 1.000 0.919 0.989 618 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . PRTG 246 0 150 8 0.0506329113924051 NA TRUE +ENSG00000138622.4 . BCM GRCh38.p13 chr15 73329709 73329709 + G G A Missense_Mutation SNP ENST00000261917.4 exon4 c.C1454T p.A485V exonic ENSG00000138622.4 . nonsynonymous SNV ENSG00000138622.4:ENST00000261917.4:exon4:c.C1454T:p.A485V 15q24.1 C3L-01352 . . . . . . . . . 15.19 D T D P . D L D D 0.664 D D D 0.809 0.534 0.974 1.086 T D D D D D 3.751 25.600 0.999 D D 0.646 6.428 0.606 6.293 1.000 0.696 0.574 0.723 0.564 . 4.310 4.310 9.883 1.176 0.676 1.000 0.688 0.250 644 Ion_transport_domain . . ID=COSV56082775;OCCURENCE=1(prostate) HCN4 398 0 360 128 0.262295081967213 TRUE TRUE +ENSG00000173546.7 . BCM GRCh38.p13 chr15 75682358 75682358 + C C G Missense_Mutation SNP ENST00000308508.5 exon8 c.G4885C p.G1629R exonic ENSG00000173546.7 . nonsynonymous SNV ENSG00000173546.7:ENST00000308508.5:exon8:c.G4885C:p.G1629R 15q24.2 C3L-01352 . . . . . . . . . 15.20 D T D D D D M T D 0.897 D T D 0.675 0.716 0.775 1.189 T T D D D D 3.467 24.600 0.999 D D 0.638 6.332 0.549 5.635 1.000 0.554 0.588 0.537 0.563 . 4.910 4.910 5.572 0.859 0.524 1.000 0.013 0.041 162 . . . . CSPG4 172 0 228 85 0.271565495207668 NA TRUE +ENSG00000136371.11 . BCM GRCh38.p13 chr15 79845376 79845376 + C C A Missense_Mutation SNP ENST00000258874.4 exon3 c.G446T p.G149V exonic ENSG00000136371.11;ENSG00000259332.3 . nonsynonymous SNV ENSG00000136371.11:ENST00000258874.4:exon3:c.G446T:p.G149V,ENSG00000259332.3:ENST00000479961.1:exon4:c.G374T:p.G125V 15q25.1 C3L-01352 8.237e-06 0 0 0.0001 0 0 0 0 rs762045886 19.20 D D D D D D H D D 0.978 D D D 0.855 0.976 0.997 0.990 T D D D D D 4.398 31 0.998 D D 1.096 17.335 1.023 20.328 1.000 0.707 0.725 0.390 0.668 . 6.170 6.170 7.190 1.008 0.599 1.000 0.988 0.987 889 . . . . MTHFS 410 0 371 116 0.238193018480493 TRUE NA +ENSG00000102935.11 . BCM GRCh38.p13 chr16 49638443 49638443 + G G T Missense_Mutation SNP ENST00000561648.5 exon5 c.C709A p.L237M exonic ENSG00000102935.11 . nonsynonymous SNV ENSG00000102935.11:ENST00000561648.5:exon5:c.C709A:p.L237M 16q12.1 C3L-01352 . . . . . . . . . 11.20 D D D D D D L T N 0.812 T T T 0.274 0.610 0.171 1.048 D T T T D D 3.174 23.800 0.995 D D 0.547 5.422 0.490 5.070 1.000 0.707 0.588 0.725 0.492 . 5.000 4.040 5.577 1.176 0.676 1.000 0.998 0.998 862 Zinc_finger_C2H2-type . . . ZNF423 369 0 310 124 0.285714285714286 TRUE TRUE +ENSG00000166473.17 . BCM GRCh38.p13 chr16 81198935 81198935 + G G A Missense_Mutation SNP ENST00000337114.8 exon7 c.C1270T p.R424C exonic ENSG00000166473.17 . nonsynonymous SNV ENSG00000166473.17:ENST00000337114.8:exon7:c.C1270T:p.R424C 16q23.2 C3L-01352 1.656e-05 0 0 0 0 2.997e-05 0 0 rs562980257 4.16 . . B B N D . T D 0.160 T T T 0.116 0.435 0.197 . T . T T D T 1.237 13.920 0.997 D N -0.278 1.668 -0.198 1.789 0.999 0.526 0.616 0.616 0.584 . 4.980 4.980 0.938 -0.570 -0.758 0.599 0.004 0.001 952 . . . . PKD1L2 457 0 482 161 0.250388802488336 TRUE NA +ENSG00000131473.17 . BCM GRCh38.p13 chr17 41898782 41898782 + T T - Frame_Shift_Del DEL ENST00000352035.7 exon12 c.1187delA p.K396Rfs*16 exonic ENSG00000131473.17 . frameshift deletion ENSG00000131473.17:ENST00000352035.7:exon12:c.1187delA:p.K396Rfs*16 17q21.2 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACLY 140 0 153 54 0.260869565217391 TRUE TRUE +ENSG00000131471.7 . BCM GRCh38.p13 chr17 42852052 42852052 + G G - Frame_Shift_Del DEL ENST00000308423.7 exon1 c.709delG p.F238Sfs*11 exonic ENSG00000131471.7 . frameshift deletion ENSG00000131471.7:ENST00000308423.7:exon1:c.709delG:p.F238Sfs*11 17q21.31 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AOC3 215 0 200 65 0.245283018867925 NA TRUE +ENSG00000141367.12 . BCM GRCh38.p13 chr17 59681357 59681357 + A A T Missense_Mutation SNP ENST00000269122.8 exon20 c.A3128T p.Y1043F exonic ENSG00000141367.12 . nonsynonymous SNV ENSG00000141367.12:ENST00000269122.8:exon20:c.A3128T:p.Y1043F 17q23.1 C3L-01352 . . . . . . . . . 11.20 D D P P D D M T D 0.675 T T T 0.312 0.735 0.605 1.374 D T T T D D 4.080 27.600 0.981 D D 0.542 5.381 0.592 6.120 1.000 0.707 0.725 0.702 0.711 . 5.290 5.290 9.325 1.312 0.756 1.000 1.000 0.999 656 . . . . CLTC 119 0 47 16 0.253968253968254 TRUE TRUE +ENSG00000197170.10 . BCM GRCh38.p13 chr17 67347397 67347397 + A A C Missense_Mutation SNP ENST00000356126.8 exon6 c.T599G p.I200S exonic ENSG00000197170.10 . nonsynonymous SNV ENSG00000197170.10:ENST00000356126.8:exon6:c.T599G:p.I200S 17q24.2 C3L-01352 . . . . . . . . . 11.20 D T P P D D M T D 0.750 T T T 0.414 0.440 0.348 1.524 D T D T D D 3.551 24.900 0.992 D D 0.424 4.495 0.539 5.535 1.000 0.707 0.725 0.725 0.714 . 5.920 5.920 8.926 1.312 0.691 1.000 1.000 0.992 869 . . . . PSMD12 116 0 57 15 0.208333333333333 TRUE TRUE +ENSG00000105426.17 . BCM GRCh38.p13 chr19 5218471 5218471 + G G A Missense_Mutation SNP ENST00000587303.5 exon24 c.C3997T p.H1333Y exonic ENSG00000105426.17 . nonsynonymous SNV ENSG00000105426.17:ENST00000587303.5:exon24:c.C3997T:p.H1333Y 19p13.3 C3L-01352 . . . . . . . . rs367722276 9.18 . T D D U D M T . 0.749 T T D 0.209 . 0.246 . T T T T D D 3.537 24.800 0.998 D D 0.726 7.497 0.660 7.067 1.000 0.706 0.634 0.725 0.613 . 4.300 4.300 7.509 1.176 0.676 1.000 0.999 0.955 976 . . . . PTPRS 238 0 229 114 0.332361516034985 TRUE NA +ENSG00000130803.15 . BCM GRCh38.p13 chr19 9157330 9157330 + T T - Frame_Shift_Del DEL ENST00000247956.11 exon4 c.225delT p.S76Lfs*10 exonic ENSG00000130803.15 . frameshift deletion ENSG00000130803.15:ENST00000247956.11:exon4:c.225delT:p.S76Lfs*10 19p13.2 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF317 137 0 91 32 0.260162601626016 TRUE TRUE +ENSG00000104774.13 . BCM GRCh38.p13 chr19 12650012 12650012 + T T G Missense_Mutation SNP ENST00000456935.7 exon18 c.A2168C p.D723A exonic ENSG00000104774.13 . nonsynonymous SNV ENSG00000104774.13:ENST00000456935.7:exon18:c.A2168C:p.D723A 19p13.13 C3L-01352 . . . . . . . . . 17.20 D D D D N D H T D 0.530 D D D 0.696 0.819 0.897 0.921 T D D D D D 3.541 24.800 0.994 D D 0.456 4.709 0.311 3.781 1.000 0.706 0.702 0.780 0.613 . 4.910 4.910 7.280 1.138 0.663 1.000 0.009 0.081 809 Glycosyl_hydrolase_family_38,_C-terminal . . . MAN2B1 601 0 602 203 0.252173913043478 TRUE TRUE +ENSG00000121297.8 . BCM GRCh38.p13 chr19 31279226 31279226 + G G T Missense_Mutation SNP ENST00000240587.5 exon2 c.C567A p.S189R exonic ENSG00000121297.8 . nonsynonymous SNV ENSG00000121297.8:ENST00000240587.5:exon2:c.C567A:p.S189R 19q12 C3L-01352 8.252e-06 0 8.655e-05 0 0 0 0 0 rs756213628 8.20 D D P P D D M T N 0.459 T T T 0.090 0.332 0.332 1.128 T T T T D D 3.213 23.900 0.994 D N 0.323 3.898 0.309 3.769 0.014 0.706 0.574 0.710 0.564 . 5.420 3.140 1.871 1.176 0.676 1.000 1.000 0.991 896 . . . . TSHZ3 164 0 192 70 0.267175572519084 TRUE NA +ENSG00000167600.14 . BCM GRCh38.p13 chr19 41198539 41198539 + T T A Missense_Mutation SNP ENST00000310054.9 exon4 c.T571A p.F191I exonic ENSG00000167600.14 . nonsynonymous SNV ENSG00000167600.14:ENST00000310054.9:exon4:c.T571A:p.F191I 19q13.2 C3L-01352 . . . . . . . . . 10.20 D D P B D D M T D 0.453 T T D 0.332 0.906 0.675 1.035 T T T T D D 3.029 23.500 0.984 D N 0.231 3.445 0.181 3.091 0.868 0.707 0.627 0.725 0.655 . 5.140 3.010 3.581 1.124 0.607 0.910 0.997 0.979 607 . . . . CYP2S1 348 0 332 129 0.279826464208243 TRUE TRUE +ENSG00000167555.14 . BCM GRCh38.p13 chr19 52416641 52416641 + A A G Missense_Mutation SNP ENST00000360465.8 exon7 c.A1789G p.R597G exonic ENSG00000167555.14 . nonsynonymous SNV ENSG00000167555.14:ENST00000360465.8:exon7:c.A1789G:p.R597G 19q13.41 C3L-01352 . . . . . . . . . 4.19 D D B B . N M T D 0.133 T T T 0.048 0.615 0.216 0.012 T T T T T T 1.750 17.370 0.907 N N -0.700 0.813 -0.857 0.679 0.000 0.638 0.670 0.659 0.668 . 1.850 1.850 -0.152 0.657 0.557 0.000 0.253 0.002 988 Zinc_finger_C2H2-type . . . ZNF528 139 0 46 17 0.26984126984127 TRUE TRUE +ENSG00000125498.20 . BCM GRCh38.p13 chr19 54782927 54782927 + C C A Missense_Mutation SNP ENST00000336077.11 exon6 c.C721A p.P241T exonic ENSG00000125498.20 . nonsynonymous SNV ENSG00000125498.20:ENST00000336077.11:exon6:c.C721A:p.P241T 19q13.42 C3L-01352 . . . . . . . . . 2.17 D T B B . N . T D 0.093 T T T 0.017 0.255 0.175 1.939 T T T T T . -0.839 0.020 0.585 N N -1.428 0.106 -1.581 0.080 0.000 0.487 0.563 0.547 0.564 . 0.929 -1.860 -1.096 -0.362 -0.587 0.001 0.000 0.000 976 . . . . KIR2DL1 406 1 238 94 0.283132530120482 NA TRUE +ENSG00000198089.16 . BCM GRCh38.p13 chr22 31585076 31585076 + T T A Missense_Mutation SNP ENST00000400288.7 exon14 c.T1355A p.L452Q exonic ENSG00000198089.16 . nonsynonymous SNV ENSG00000198089.16:ENST00000400288.7:exon14:c.T1355A:p.L452Q 22q12.2 C3L-01352 . . . . . . . . . 12.20 D D D D N N M T D 0.843 T T D 0.310 0.609 0.552 0.488 T T D D D D 3.160 23.800 0.993 D N 0.147 3.077 0.118 2.810 1.000 0.706 0.725 0.710 0.563 . 5.490 5.490 2.549 1.138 0.665 0.988 0.035 0.027 150 . . . . SFI1 112 0 33 11 0.25 TRUE TRUE +ENSG00000101825.8 . BCM GRCh38.p13 chrX 3322572 3322572 + G G T Missense_Mutation SNP ENST00000217939.7 exon5 c.C3113A p.T1038K exonic ENSG00000101825.8 . nonsynonymous SNV ENSG00000101825.8:ENST00000217939.7:exon5:c.C3113A:p.T1038K Xp22.33 C3L-01352 . . . . . . . . . 2.19 D D B B U N L T N 0.222 T T T 0.074 0.476 0.353 0.176 T T T T T T 0.713 8.572 0.573 N . . . . . 0.003 . . . . . 3.290 1.410 0.739 0.090 -0.126 0.001 0.012 0.006 1000 . . . . MXRA5 177 0 69 24 0.258064516129032 TRUE TRUE +ENSG00000099399.6 . BCM GRCh38.p13 chrX 30218795 30218795 + C C T Missense_Mutation SNP ENST00000378988.5 exon2 c.C215T p.A72V exonic ENSG00000099399.6 . nonsynonymous SNV ENSG00000099399.6:ENST00000378988.5:exon2:c.C215T:p.A72V Xp21.2 C3L-01352 2.836e-05 0 0.0003 0 0 0 0 0 rs761837486 1.19 T T P B N N M T N 0.151 T T T 0.139 0.402 0.330 0.005 T T T T T T 0.290 4.178 0.973 N . . . . . 1.000 . . . . . 3.400 -2.410 -0.050 -0.315 -0.285 0.000 0.001 0.010 799 Melanoma_associated_antigen,_N-terminal . . . MAGEB2 227 0 235 86 0.26791277258567 TRUE NA +ENSG00000198932.13 . BCM GRCh38.p13 chrX 102654405 102654405 + T T A Missense_Mutation SNP ENST00000537097.2 exon6 c.T492A p.F164L exonic ENSG00000198932.13 . nonsynonymous SNV ENSG00000198932.13:ENST00000537097.2:exon6:c.T492A:p.F164L Xq22.1 C3L-01352 . . . . . . . . . 1.18 D T B B . N L T N 0.118 T T T 0.016 0.220 0.093 0.159 T T T T T T 0.115 2.231 0.746 N . . . . . 0.105 . . . . . 1.970 -0.686 -0.051 -0.182 -0.890 0.000 0.000 0.000 140 . . . . GPRASP1 251 0 110 37 0.251700680272109 TRUE TRUE +ENSG00000102409.10 . BCM GRCh38.p13 chrX 103216280 103216280 + G G A Missense_Mutation SNP ENST00000372695.6 exon3 c.G127A p.G43S exonic ENSG00000102409.10 . nonsynonymous SNV ENSG00000102409.10:ENST00000372695.6:exon3:c.G127A:p.G43S Xq22.1 C3L-01352 . . . . . . . . . 1.19 T T B B N N L T N 0.058 T T D 0.050 0.475 0.202 0.306 T T T T T T 0.836 9.755 0.964 N . . . . . 1.000 . . . . . 3.850 -0.554 -0.094 -0.106 0.672 0.001 0.045 0.967 272 . . . . BEX4 100 0 78 42 0.35 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47019759 47019759 + C C - Splice_Site SNP NA NA NA NA splicing ENSG00000181555.20 ENST00000409792.3:exon19:c.7431+1G>- . . 3p21.31 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETD2 132 0 32 15 0.319148936170213 TRUE TRUE +ENSG00000145623.13 . BCM GRCh38.p13 chr5 38876198 38876200 + CAG CAG - Splice_Site DEL NA NA NA NA splicing ENSG00000145623.13 . . . 5p13.1 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OSMR 144 0 47 12 0.203389830508475 TRUE TRUE +ENSG00000187240.16 . BCM GRCh38.p13 chr11 103286254 103286254 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000187240.16 ENST00000375735.7:exon74:c.10891-1G>T . . 11q22.3 C3L-01352 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.006 35 0.996 D . 1.125 18.663 0.974 17.322 0.998 0.074 0.063 0.092 0.057 0.983 5.410 5.410 7.394 1.176 0.676 1.000 0.983 0.997 628 . . . ID=COSV62095799;OCCURENCE=1(skin) DYNC2H1 169 4 71 23 0.24468085106383 TRUE TRUE +ENSG00000120952.4 . BCM GRCh38.p13 chr1 12861746 12861746 + G G A Silent SNP ENST00000240189.2 exon4 c.G1392A p.P464P exonic ENSG00000120952.4 . synonymous SNV ENSG00000120952.4:ENST00000240189.2:exon4:c.G1392A:p.P464P 1p36.21 C3L-01352 6.592e-05 0 0 0 0 3.371e-05 0 0.0004 rs534677823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53573576;OCCURENCE=1(ovary),1(pancreas) PRAMEF2 186 0 175 47 0.211711711711712 NA TRUE +ENSG00000158014.15 . BCM GRCh38.p13 chr1 26045064 26045064 + C C A Silent SNP ENST00000374278.7 exon2 c.G204T p.G68G exonic ENSG00000158014.15 . synonymous SNV ENSG00000158014.15:ENST00000374278.7:exon2:c.G204T:p.G68G 1p36.11 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC30A2 296 0 345 96 0.217687074829932 TRUE TRUE +ENSG00000123091.5 . BCM GRCh38.p13 chr1 51270075 51270075 + T T C Silent SNP ENST00000242719.4 exon2 c.T243C p.P81P exonic ENSG00000123091.5 . synonymous SNV ENSG00000123091.5:ENST00000242719.4:exon2:c.T243C:p.P81P 1p32.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF11 260 0 109 45 0.292207792207792 TRUE TRUE +ENSG00000068878.15 . BCM GRCh38.p13 chr2 53920342 53920342 + G G T Silent SNP ENST00000404125.6 exon19 c.C2271A p.G757G exonic ENSG00000068878.15 . synonymous SNV ENSG00000068878.15:ENST00000404125.6:exon19:c.C2271A:p.G757G 2p16.2 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSME4 62 0 41 6 0.127659574468085 TRUE TRUE +ENSG00000131459.13 . BCM GRCh38.p13 chr5 180302570 180302570 + T T A Silent SNP ENST00000253778.13 exon18 c.A1857T p.I619I exonic ENSG00000131459.13 . synonymous SNV ENSG00000131459.13:ENST00000253778.13:exon18:c.A1857T:p.I619I 5q35.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GFPT2 124 0 125 29 0.188311688311688 TRUE TRUE +ENSG00000091136.14 . BCM GRCh38.p13 chr7 107929555 107929555 + A A G Silent SNP ENST00000222399.11 exon30 c.T4602C p.P1534P exonic ENSG00000091136.14 . synonymous SNV ENSG00000091136.14:ENST00000222399.11:exon30:c.T4602C:p.P1534P 7q31.1 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LAMB1 377 0 153 47 0.235 TRUE TRUE +ENSG00000104413.18 . BCM GRCh38.p13 chr8 94671473 94671473 + G G A Silent SNP ENST00000433389.8 exon11 c.G1254A p.S418S exonic ENSG00000104413.18 . synonymous SNV ENSG00000104413.18:ENST00000433389.8:exon11:c.G1254A:p.S418S 8q22.1 C3L-01352 2.491e-05 0 0 0 0 4.504e-05 0 0 rs368354464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ESRP1 129 1 66 28 0.297872340425532 TRUE NA +ENSG00000187866.10 . BCM GRCh38.p13 chr9 68780896 68780896 + T T G Silent SNP ENST00000394264.7 exon1 c.T732G p.L244L exonic ENSG00000187866.10 . synonymous SNV ENSG00000187866.10:ENST00000394264.7:exon1:c.T732G:p.L244L 9q21.11 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM122A 430 0 318 90 0.220588235294118 TRUE TRUE +ENSG00000121898.13 . BCM GRCh38.p13 chr10 123780233 123780233 + G G A Silent SNP ENST00000241305.4 exon7 c.C912T p.R304R exonic ENSG00000121898.13 . synonymous SNV ENSG00000121898.13:ENST00000241305.4:exon7:c.C912T:p.R304R 10q26.13 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53869957;OCCURENCE=1(endometrium) CPXM2 210 0 122 24 0.164383561643836 TRUE TRUE +ENSG00000111319.13 . BCM GRCh38.p13 chr12 6362143 6362143 + C C T Silent SNP ENST00000228916.7 exon4 c.G783A p.S261S exonic ENSG00000111319.13 . synonymous SNV ENSG00000111319.13:ENST00000228916.7:exon4:c.G783A:p.S261S 12p13.31 C3L-01352 1.648e-05 9.617e-05 0 0.0001 0 0 0 0 rs72645110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCNN1A 365 0 330 149 0.311064718162839 TRUE NA +ENSG00000186073.14 . BCM GRCh38.p13 chr15 36579867 36579867 + C C T Silent SNP ENST00000566621.6 exon1 c.C7T p.L3L exonic ENSG00000186073.14 . synonymous SNV ENSG00000186073.14:ENST00000566621.6:exon1:c.C7T:p.L3L 15q14 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C15orf41 143 0 129 64 0.33160621761658 TRUE TRUE +ENSG00000140795.13 . BCM GRCh38.p13 chr16 46738124 46738124 + C C T Silent SNP ENST00000394809.9 exon3 c.G588A p.V196V exonic ENSG00000140795.13 . synonymous SNV ENSG00000140795.13:ENST00000394809.9:exon3:c.G588A:p.V196V 16q11.2 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYLK3 41 0 51 4 0.0727272727272727 TRUE NA +ENSG00000004975.12 . BCM GRCh38.p13 chr17 7229828 7229828 + G G A Silent SNP ENST00000005340.10 exon5 c.C636T p.D212D exonic ENSG00000004975.12 . synonymous SNV ENSG00000004975.12:ENST00000005340.10:exon5:c.C636T:p.D212D 17p13.1 C3L-01352 . . . . . . . . rs903803977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50034699;OCCURENCE=1(large_intestine) DVL2 159 0 199 65 0.246212121212121 TRUE TRUE +ENSG00000181513.14 . BCM GRCh38.p13 chr17 45142592 45142592 + G G A Silent SNP ENST00000376955.8 exon10 c.G789A p.L263L exonic ENSG00000181513.14 . synonymous SNV ENSG00000181513.14:ENST00000376955.8:exon10:c.G789A:p.L263L 17q21.31 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACBD4 27 0 44 9 0.169811320754717 TRUE NA +ENSG00000141639.12 . BCM GRCh38.p13 chr18 50664375 50664375 + C C T Silent SNP ENST00000400384.7 exon2 c.C417T p.Y139Y exonic ENSG00000141639.12 . synonymous SNV ENSG00000141639.12:ENST00000400384.7:exon2:c.C417T:p.Y139Y 18q21.1 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPK4 202 0 177 37 0.172897196261682 TRUE TRUE +ENSG00000105388.16 . BCM GRCh38.p13 chr19 41718264 41718264 + C C T Silent SNP ENST00000221992.11 exon6 c.C1374T p.H458H exonic ENSG00000105388.16 . synonymous SNV ENSG00000105388.16:ENST00000221992.11:exon6:c.C1374T:p.H458H 19q13.2 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEACAM5 428 0 338 90 0.210280373831776 TRUE TRUE +ENSG00000179954.16 . BCM GRCh38.p13 chr19 55499841 55499841 + A A G Silent SNP ENST00000389623.11 exon10 c.A1731G p.S577S exonic ENSG00000179954.16 . synonymous SNV ENSG00000179954.16:ENST00000389623.11:exon10:c.A1731G:p.S577S 19q13.42 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSC5D 152 0 143 58 0.288557213930348 TRUE TRUE +ENSG00000101413.12 . BCM GRCh38.p13 chr20 38066169 38066169 + G G T Silent SNP ENST00000373433.9 exon6 c.G744T p.L248L exonic ENSG00000101413.12 . synonymous SNV ENSG00000101413.12:ENST00000373433.9:exon6:c.G744T:p.L248L 20q11.23 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPRD1B 298 0 262 91 0.257790368271955 TRUE TRUE +ENSG00000142173.16 . BCM GRCh38.p13 chr21 46132114 46132114 + C C T Silent SNP ENST00000300527.9 exon28 c.C2622T p.N874N exonic ENSG00000142173.16 . synonymous SNV ENSG00000142173.16:ENST00000300527.9:exon28:c.C2622T:p.N874N 21q22.3 C3L-01352 4.398e-05 0.0003 0 0 0 4.039e-05 0 0 rs138270307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52429377;OCCURENCE=1(oesophagus) COL6A2 742 1 727 299 0.291423001949318 TRUE TRUE +ENSG00000175329.13 . BCM GRCh38.p13 chr22 35082570 35082570 + G G T Silent SNP ENST00000404699.7 exon3 c.G282T p.L94L exonic ENSG00000175329.13 . synonymous SNV ENSG00000175329.13:ENST00000404699.7:exon3:c.G282T:p.L94L 22q12.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ISX 176 0 170 71 0.294605809128631 TRUE TRUE +ENSG00000232030.3 . BCM GRCh38.p13 chrX 26160849 26160849 + T T C Silent SNP ENST00000416929.2 exon1 c.T249C p.D83D exonic ENSG00000232030.3 . synonymous SNV ENSG00000232030.3:ENST00000416929.2:exon1:c.T249C:p.D83D Xp21.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEB6B 401 1 298 119 0.28537170263789 TRUE TRUE +ENSG00000117625.13 . BCM GRCh38.p13 chr1 211259662 211259675 + GTCCACCAACGGCG GTCCACCAACGGCG - 5'Flank DEL NA NA NA NA upstream ENSG00000117625.13 dist=300 . . 1q32.2 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RCOR3 156 0 122 26 0.175675675675676 TRUE TRUE +ENSG00000080345.18 . BCM GRCh38.p13 chr2 151409957 151409957 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000080345.18 ENST00000444746.7:c.-467G>A . . 2q23.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RIF1 425 0 436 162 0.270903010033445 TRUE NA +ENSG00000130561.17 . BCM GRCh38.p13 chr2 233318867 233318867 + G G T Intron SNP NA NA NA NA intronic ENSG00000130561.17 . . . 2q37.1 C3L-01352 . . . . . . . . . 2.11 D D . . . N . T N . T T . 0.004 0.395 0.405 . . . T T T . 0.013 1.420 0.630 N . -0.822 0.623 -1.015 0.471 0.255 0.447 0.563 0.547 0.530 . 2.750 -0.053 0.044 -0.398 -0.198 0.000 0.000 0.003 878 . . . . SAG 375 0 366 151 0.292069632495164 TRUE NA +ENSG00000175606.11 . BCM GRCh38.p13 chr8 73976220 73976220 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000175606.11 ENST00000312184.6:c.-62C>T . . 8q21.11 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM70 218 0 289 76 0.208219178082192 TRUE NA +ENSG00000196233.13 . BCM GRCh38.p13 chr10 96981254 96981254 + - NA T IGR SNP NA NA NA NA intergenic ENSG00000196233.13;ENSG00000187122.17 dist=16813;dist=16784 . . 10q24.1 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LCOR NA NA NA NA NA NA NA +ENSG00000167283.8 . BCM GRCh38.p13 chr11 118401648 118401648 + A A C 5'UTR SNP NA NA NA NA UTR5 ENSG00000167283.8;ENSG00000285827.1 ENST00000300688.8:c.-18A>C;ENST00000648261.1:c.-70742A>C . . 11q23.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP5MG 275 1 263 96 0.267409470752089 TRUE NA +ENSG00000199179.3 . BCM GRCh38.p13 chr12 62603757 62603757 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199179.3 . . . 12q14.1 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIRLET7I 325 0 373 96 0.204690831556503 TRUE NA +ENSG00000273706.5 . BCM GRCh38.p13 chr17 36937782 36937782 + A A T 5'UTR SNP NA NA NA NA UTR5 ENSG00000273706.5 ENST00000614239.1:c.-416A>T . . 17q12 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LHX1 163 0 180 50 0.217391304347826 TRUE NA +ENSG00000177189.14 . BCM GRCh38.p13 chrX 20169575 20169575 + - NA AAA Intron INS NA NA NA NA intronic ENSG00000177189.14 . . . Xp22.12 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPS6KA3 NA NA NA NA NA NA NA +ENSG00000023892.11 . BCM GRCh38.p13 chr6 35319556 35319558 + GAA GAA TAT Unknown MNP ENST00000316637.7 exon8 c.1248_1250delinsTAT p.K417M exonic ENSG00000023892.11 . nonframeshift substitution ENSG00000023892.11:ENST00000316637.7:exon8:c.1248_1250delinsTAT:p.K417M 6p21.31 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DEF6 138 32 120 34 0.220779220779221 TRUE NA +ENSG00000129910.8 . BCM GRCh38.p13 chr16 89193841 89193842 + GG GG CT Unknown MNP ENST00000289746.3 exon13 c.2079_2080delinsCT p.Q693_G694delinsHC exonic ENSG00000129910.8 . nonframeshift substitution ENSG00000129910.8:ENST00000289746.3:exon13:c.2079_2080delinsCT:p.Q693_G694delinsHC 16q24.3 C3L-01352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH15 398 129 416 136 0.246376811594203 TRUE TRUE +ENSG00000162402.14 . BCM GRCh38.p13 chr1 55083331 55083331 + G G A Missense_Mutation SNP ENST00000294383.7 exon58 c.C6916T p.H2306Y exonic ENSG00000162402.14 . nonsynonymous SNV ENSG00000162402.14:ENST00000294383.7:exon58:c.C6916T:p.H2306Y 1p32.3 C3L-01553 8.32e-06 0 0 0 0 1.503e-05 0 0 rs763678402 3.18 T T . . N D L T N 0.491 T T T 0.177 . 0.103 0.653 T T T T T T 2.370 22.000 0.866 D D -0.073 2.263 0.164 3.014 1.000 0.732 0.725 0.744 0.728 . 5.840 5.840 6.746 1.176 0.676 1.000 1.000 0.966 889 . . . . USP24 232 0 171 44 0.204651162790698 TRUE NA +ENSG00000171303.7 . BCM GRCh38.p13 chr2 26728092 26728092 + G G T Missense_Mutation SNP ENST00000302909.4 exon2 c.G709T p.A237S exonic ENSG00000171303.7 . nonsynonymous SNV ENSG00000171303.7:ENST00000302909.4:exon2:c.G709T:p.A237S 2p23.3 C3L-01553 . . . . . . . . . 8.20 T T P P N D L T D 0.753 T T T 0.161 0.674 0.434 . D D T T D D 3.862 26.100 0.995 D D 0.276 3.658 0.351 4.031 1.000 0.598 0.547 0.578 0.639 . 5.010 4.110 7.818 1.083 0.676 1.000 1.000 0.999 643 Potassium_channel_domain . . . KCNK3 221 1 89 31 0.258333333333333 TRUE TRUE +ENSG00000176601.13 . BCM GRCh38.p13 chr2 134999992 134999992 + G G T Missense_Mutation SNP ENST00000392915.6 exon7 c.C259A p.P87T exonic ENSG00000176601.13 . nonsynonymous SNV ENSG00000176601.13:ENST00000392915.6:exon7:c.C259A:p.P87T 2q21.3 C3L-01553 . . . . . . . . . 9.20 D D D D N D M T N 0.274 T T D 0.117 0.322 0.863 0.532 T T T T D T 2.971 23.400 0.997 D N 0.252 3.540 0.195 3.157 0.816 0.497 0.590 0.547 0.542 . 4.550 3.660 2.604 1.176 0.676 1.000 0.870 0.536 882 . . . . MAP3K19 167 0 100 28 0.21875 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142107 10142108 + TA TA - Frame_Shift_Del DEL ENST00000256474.3 exon1 c.260_261del p.W88Afs*43 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.260_261del:p.W88Afs*43 3p25.3 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 430 0 134 107 0.443983402489627 TRUE TRUE +ENSG00000163645.15 . BCM GRCh38.p13 chr3 150703502 150703502 + G G C Missense_Mutation SNP ENST00000295910.11 exon1 c.C397G p.H133D exonic ENSG00000163645.15 . nonsynonymous SNV ENSG00000163645.15:ENST00000295910.11:exon1:c.C397G:p.H133D 3q25.1 C3L-01553 . . . . . . . . . 2.20 D T B B N N L T D 0.200 T T T 0.051 0.265 0.126 0.213 T T T T T T 1.904 18.520 0.984 N N -0.677 0.852 -0.725 0.864 1.000 0.025 0.166 0.240 0.250 . 2.680 2.680 1.679 0.976 0.590 0.045 0.504 0.641 911 . . . . ERICH6 67 0 18 24 0.571428571428571 TRUE TRUE +ENSG00000109738.11 . BCM GRCh38.p13 chr4 157136698 157136698 + G G A Missense_Mutation SNP ENST00000264428.9 exon5 c.G527A p.R176K exonic ENSG00000109738.11 . nonsynonymous SNV ENSG00000109738.11:ENST00000264428.9:exon5:c.G527A:p.R176K 4q32.1 C3L-01553 . . . . . . . . . 17.20 D T D D D D M T D 0.916 D D D 0.825 0.760 0.902 0.726 T D D D D D 6.214 35 0.997 D D 0.838 9.564 0.802 10.182 1.000 0.638 0.574 0.574 0.668 . 5.340 5.340 9.940 1.176 0.676 1.000 0.992 0.886 953 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . GLRB 222 0 141 34 0.194285714285714 TRUE TRUE +ENSG00000249437.8 . BCM GRCh38.p13 chr5 71012537 71012537 + G G - Frame_Shift_Del DEL ENST00000517649.6 exon4 c.379delC p.L127Ffs*2 exonic ENSG00000249437.8 . frameshift deletion ENSG00000249437.8:ENST00000517649.6:exon4:c.379delC:p.L127Ffs*2 5q13.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAIP 654 2 326 41 0.111716621253406 TRUE TRUE +ENSG00000185261.14 . BCM GRCh38.p13 chr5 94471635 94471635 + - NA CT Frame_Shift_Ins INS ENST00000513200.7 exon8 c.1551_1552insAG p.E518Rfs*28 exonic ENSG00000185261.14 . frameshift insertion ENSG00000185261.14:ENST00000513200.7:exon8:c.1551_1552insAG:p.E518Rfs*28 5q15 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA0825 NA NA NA NA NA NA NA +ENSG00000152495.11 . BCM GRCh38.p13 chr5 111484056 111484056 + C C T Missense_Mutation SNP ENST00000282356.9 exon11 c.C1012T p.R338C exonic ENSG00000152495.11 . nonsynonymous SNV ENSG00000152495.11:ENST00000282356.9:exon11:c.C1012T:p.R338C 5q22.1 C3L-01553 8.562e-06 0 0 0 0 1.536e-05 0 0 rs746112718 13.20 D D D D D D L T D 0.765 T T D 0.484 0.379 0.863 2.089 T T D D D D 4.042 27.300 0.999 D N 0.526 5.247 0.487 5.039 0.959 0.707 0.725 0.659 0.613 . 5.810 3.990 4.585 1.026 0.549 1.000 0.955 0.994 863 . . . ID=COSV56662242;OCCURENCE=1(breast),2(large_intestine),1(stomach),1(skin) CAMK4 40 0 34 3 0.0810810810810811 TRUE NA +ENSG00000204580.13 . BCM GRCh38.p13 chr6 30892446 30892446 + T T C Missense_Mutation SNP ENST00000324771.12 exon10 c.T1003C p.S335P exonic ENSG00000204580.13 . nonsynonymous SNV ENSG00000204580.13:ENST00000324771.12:exon10:c.T1003C:p.S335P 6p21.33 C3L-01553 . . . . . . . . . 9.20 D D D P N D L T D 0.755 T T D 0.129 0.459 0.636 . T T T T D T 3.117 23.700 0.991 D D -0.055 2.320 -0.068 2.141 0.998 0.732 0.744 0.699 0.655 . 4.230 1.860 2.540 1.134 0.661 1.000 0.684 0.813 917 . . . . DDR1 102 0 65 10 0.133333333333333 TRUE TRUE +ENSG00000164451.13 . BCM GRCh38.p13 chr6 116558178 116558178 + A A T Missense_Mutation SNP ENST00000368596.3 exon2 c.A912T p.E304D exonic ENSG00000164451.13 . nonsynonymous SNV ENSG00000164451.13:ENST00000368596.3:exon2:c.A912T:p.E304D 6q22.1 C3L-01553 . . . . . . . . . 1.19 T D B B N N . T N 0.142 T T T 0.048 0.125 0.393 0.091 T T T T T T 2.364 21.900 0.984 N N -0.325 1.553 -0.173 1.853 1.000 0.487 0.574 0.547 0.662 . 5.990 5.990 1.339 0.323 0.756 0.997 0.683 0.976 494 . . . . CALHM4 130 0 78 26 0.25 TRUE TRUE +ENSG00000105939.13 . BCM GRCh38.p13 chr7 139064965 139064965 + G G T Nonsense_Mutation SNP ENST00000242351.10 exon8 c.C1907A p.S636X exonic ENSG00000105939.13 . stopgain ENSG00000105939.13:ENST00000242351.10:exon8:c.C1907A:p.S636X 7q34 C3L-01553 . . . . . . . . . 4.7 . . . . N A . . . 0.143 . . . . . . . . . D D D . 5.208 33 0.863 N N -0.375 1.439 -0.712 0.882 0.959 0.732 0.702 0.744 0.714 . 4.320 0.207 0.236 -0.530 -0.682 0.000 0.000 0.104 443 WWE_domain . . . ZC3HAV1 190 0 110 33 0.230769230769231 TRUE TRUE +ENSG00000158106.14 . BCM GRCh38.p13 chr8 143379329 143379329 + C C A Missense_Mutation SNP ENST00000289013.11 exon8 c.C766A p.L256M exonic ENSG00000158106.14 . nonsynonymous SNV ENSG00000158106.14:ENST00000289013.11:exon8:c.C766A:p.L256M 8q24.3 C3L-01553 . . . . . . . . . 9.18 D D . . D D M T N 0.733 T T D 0.252 . 0.227 0.378 T T T T D D 3.163 23.800 0.995 D N 0.211 3.353 0.052 2.547 1.000 0.696 0.611 0.723 0.700 . 4.270 2.390 1.570 0.930 0.527 0.998 0.874 0.761 976 BRO1_domain . . . RHPN1 47 0 30 9 0.230769230769231 TRUE TRUE +ENSG00000197969.14 . BCM GRCh38.p13 chr9 77366777 77366777 + A A - Frame_Shift_Del DEL ENST00000360280.8 exon61 c.8376delA p.K2793Nfs*6 exonic ENSG00000197969.14 . frameshift deletion ENSG00000197969.14:ENST00000360280.8:exon61:c.8376delA:p.K2793Nfs*6 9q21.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS13A 220 0 156 49 0.239024390243902 TRUE TRUE +ENSG00000106804.8 . BCM GRCh38.p13 chr9 120981849 120981849 + G G - Frame_Shift_Del DEL ENST00000223642.3 exon27 c.3481delC p.L1161Wfs*2 exonic ENSG00000106804.8 . frameshift deletion ENSG00000106804.8:ENST00000223642.3:exon27:c.3481delC:p.L1161Wfs*2 9q33.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C5 332 0 191 69 0.265384615384615 TRUE TRUE +ENSG00000167081.18 . BCM GRCh38.p13 chr9 125962178 125962178 + C C A Nonsense_Mutation SNP ENST00000373489.10 exon7 c.C1086A p.Y362X exonic ENSG00000167081.18 . stopgain ENSG00000167081.18:ENST00000373489.10:exon7:c.C1086A:p.Y362X 9q33.3 C3L-01553 . . . . . . . . . 5.6 . . . . D D . . . 0.801 . . . . . . . . . D D . . 7.457 38 0.996 D N 1.000 13.912 0.900 13.740 1.000 0.707 0.725 0.725 0.636 . 5.830 5.830 7.530 1.026 0.599 1.000 1.000 0.999 246 . . . . PBX3 177 0 82 29 0.261261261261261 TRUE TRUE +ENSG00000148356.13 . BCM GRCh38.p13 chr9 127481227 127481227 + G G A Missense_Mutation SNP ENST00000323301.8 exon14 c.G1088A p.R363K exonic ENSG00000148356.13 . nonsynonymous SNV ENSG00000148356.13:ENST00000323301.8:exon14:c.G1088A:p.R363K 9q33.3 C3L-01553 . . . . . . . . . 11.20 T D D D D D M T N 0.597 T D D 0.131 0.164 0.859 0.701 T T T T D T 5.738 34 0.995 D D 0.649 6.461 0.620 6.484 1.000 0.635 0.644 0.644 0.636 . 5.620 4.700 6.494 1.168 0.672 1.000 0.969 0.952 513 . . . . LRSAM1 287 1 198 45 0.185185185185185 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 16950103 16950103 + T T C Missense_Mutation SNP ENST00000377833.10 exon34 c.A4978G p.I1660V exonic ENSG00000107611.16 . nonsynonymous SNV ENSG00000107611.16:ENST00000377833.10:exon34:c.A4978G:p.I1660V 10p13 C3L-01553 . . . . . . . . . 2.20 T T B B N D N T N 0.247 T T T 0.056 0.620 0.313 0.080 T T T T T T 1.318 14.520 0.673 D N -0.467 1.242 -0.361 1.444 1.000 0.554 0.590 0.547 0.568 . 5.970 4.830 1.021 0.205 -0.121 0.921 0.490 0.769 774 CUB_domain . . . CUBN 356 0 258 59 0.186119873817035 TRUE TRUE +ENSG00000151150.22 . BCM GRCh38.p13 chr10 60070749 60070749 + G G T Missense_Mutation SNP ENST00000280772.7 exon37 c.C10132A p.P3378T exonic ENSG00000151150.22 . nonsynonymous SNV ENSG00000151150.22:ENST00000280772.7:exon37:c.C10132A:p.P3378T 10q21.2 C3L-01553 . . . . . . . . . 6.19 D . B B D D M T N 0.289 T T T 0.123 0.102 0.565 0.654 T T T T D T 2.469 22.300 0.961 D N -0.256 1.724 -0.071 2.132 1.000 0.554 0.574 0.547 0.621 . 5.480 4.560 4.484 1.176 0.676 1.000 0.983 0.995 720 . . . . ANK3 249 1 131 42 0.242774566473988 TRUE TRUE +ENSG00000148843.15 . BCM GRCh38.p13 chr10 103443941 103443941 + G G C Missense_Mutation SNP ENST00000369797.8 exon34 c.G5151C p.M1717I exonic ENSG00000148843.15 . nonsynonymous SNV ENSG00000148843.15:ENST00000369797.8:exon34:c.G5151C:p.M1717I 10q24.33 C3L-01553 . . . . . . . . . 13.20 D D D D D D L T D 0.689 T T T 0.450 0.459 0.487 0.801 T T D D D D 4.125 28.000 0.998 D D 0.904 11.148 0.892 13.425 1.000 0.646 0.702 0.698 0.723 . 5.670 5.670 10.003 1.176 0.676 1.000 1.000 0.998 228 Tetratricopeptide_repeat-containing_domain . . . PDCD11 154 0 85 20 0.19047619047619 TRUE TRUE +ENSG00000108018.15 . BCM GRCh38.p13 chr10 106677379 106677379 + A A - Frame_Shift_Del DEL ENST00000263054.10 exon13 c.1766delT p.L589Cfs*12 exonic ENSG00000108018.15 . frameshift deletion ENSG00000108018.15:ENST00000263054.10:exon13:c.1766delT:p.L589Cfs*12 10q25.1 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORCS1 223 0 124 34 0.215189873417722 TRUE TRUE +ENSG00000181616.9 . BCM GRCh38.p13 chr11 5545244 5545244 + A A - Frame_Shift_Del DEL ENST00000641796.1 exon1 c.280delT p.W94Gfs*2 exonic ENSG00000181616.9 . frameshift deletion ENSG00000181616.9:ENST00000641796.1:exon1:c.280delT:p.W94Gfs*2 11p15.4 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR52H1 248 0 108 53 0.329192546583851 TRUE TRUE +ENSG00000185670.9 . BCM GRCh38.p13 chr11 62753120 62753120 + C C T Missense_Mutation SNP ENST00000673933.1 exon2 c.G695A p.R232H exonic ENSG00000185670.9 . nonsynonymous SNV ENSG00000185670.9:ENST00000673933.1:exon2:c.G695A:p.R232H 11q12.3 C3L-01553 1.648e-05 0 0 0 0 1.499e-05 0.0011 0 rs779542676 1.20 T T B B N N N T N 0.073 T T T 0.044 . 0.298 0.412 T T T T T T 2.109 20.200 0.725 D N -0.416 1.348 -0.223 1.731 1.000 0.722 0.714 0.699 0.492 . 5.040 3.060 2.664 0.138 0.599 0.981 0.953 0.992 434 . . . ID=COSV101188997;OCCURENCE=1(stomach) ZBTB3 216 0 164 43 0.207729468599034 TRUE NA +ENSG00000149575.7 . BCM GRCh38.p13 chr11 118168265 118168265 + G G T Missense_Mutation SNP ENST00000278947.6 exon3 c.C268A p.L90M exonic ENSG00000149575.7 . nonsynonymous SNV ENSG00000149575.7:ENST00000278947.6:exon3:c.C268A:p.L90M 11q23.3 C3L-01553 . . . . . . . . . 3.20 D T B B N D L T N 0.224 T T T 0.079 0.488 0.468 0.277 T T T T T T 2.145 20.500 0.988 D N -0.218 1.827 -0.155 1.899 0.294 0.497 0.590 0.563 0.542 . 4.900 0.989 1.590 1.176 0.676 1.000 1.000 1.000 438 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . SCN2B 465 0 346 26 0.0698924731182796 NA TRUE +ENSG00000183542.5 . BCM GRCh38.p13 chr12 10409551 10409564 + AGTAGGTTCCTCTT AGTAGGTTCCTCTT - Frame_Shift_Del DEL ENST00000309384.2 exon1 c.12_25del p.Q4Hfs*17 exonic ENSG00000183542.5 . frameshift deletion ENSG00000183542.5:ENST00000309384.2:exon1:c.12_25del:p.Q4Hfs*17 12p13.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLRC4 144 0 61 11 0.152777777777778 NA TRUE +ENSG00000196531.13 . BCM GRCh38.p13 chr12 56716519 56716519 + C C A Missense_Mutation SNP ENST00000454682.6 exon3 c.G5011T p.G1671W exonic ENSG00000196531.13 . nonsynonymous SNV ENSG00000196531.13:ENST00000454682.6:exon3:c.G5011T:p.G1671W 12q13.3 C3L-01553 . . . . . . . . . 4.17 D T D D . N . T N 0.265 T T T 0.056 0.338 0.346 . . T T T T T 1.532 15.940 0.963 D N -0.067 2.282 -0.241 1.691 1.000 0.730 0.586 0.564 0.509 . 3.660 2.740 0.701 0.088 0.544 0.002 0.939 0.737 45 . . . . NACA 132 0 67 20 0.229885057471264 TRUE NA +ENSG00000061987.16 . BCM GRCh38.p13 chr12 62537701 62537701 + C C G Missense_Mutation SNP ENST00000393630.8 exon16 c.C2113G p.L705V exonic ENSG00000061987.16 . nonsynonymous SNV ENSG00000061987.16:ENST00000393630.8:exon16:c.C2113G:p.L705V 12q14.1 C3L-01553 . . . . . . . . . 13.18 D T . . D D M T D 0.716 T T D 0.382 0.567 0.459 . D T D D D D 3.208 23.900 0.998 D D 0.518 5.179 0.516 5.306 1.000 0.732 0.744 0.659 0.704 . 5.790 4.900 4.100 1.026 0.599 1.000 0.998 0.927 752 . . . . MON2 133 0 64 24 0.272727272727273 TRUE TRUE +ENSG00000133641.18 . BCM GRCh38.p13 chr12 88040241 88040241 + T T C Missense_Mutation SNP ENST00000356891.4 exon2 c.T184C p.C62R exonic ENSG00000133641.18 . nonsynonymous SNV ENSG00000133641.18:ENST00000356891.4:exon2:c.T184C:p.C62R 12q21.32 C3L-01553 . . . . . . . . rs763266905 12.18 D D P B . D M T D 0.963 T T D 0.618 0.706 0.492 0.895 . T D D D D 3.400 24.400 0.995 D D 0.560 5.540 0.571 5.884 1.000 0.706 0.710 0.659 0.613 . 5.060 5.060 6.743 1.126 0.665 1.000 1.000 1.000 876 . . . . C12orf29 173 0 88 20 0.185185185185185 TRUE NA +ENSG00000197651.4 . BCM GRCh38.p13 chr12 90953639 90953639 + G G T Missense_Mutation SNP ENST00000358859.3 exon1 c.C1104A p.F368L exonic ENSG00000197651.4 . nonsynonymous SNV ENSG00000197651.4:ENST00000358859.3:exon1:c.C1104A:p.F368L 12q21.33 C3L-01553 . . . . . . . . . 0.20 T T B B N N N T N 0.074 T T T 0.020 0.227 0.048 0.337 T T T T T T -0.518 0.109 0.653 N N -1.821 0.021 -1.792 0.035 0.002 0.487 0.574 0.578 0.564 . 5.380 -4.800 -0.468 -0.146 -1.149 0.009 0.012 0.026 922 . . . . CCER1 286 0 155 35 0.184210526315789 TRUE TRUE +ENSG00000100814.18 . BCM GRCh38.p13 chr14 20311693 20311693 + C C T Missense_Mutation SNP ENST00000358932.9 exon7 c.G691A p.G231R exonic ENSG00000100814.18 . nonsynonymous SNV ENSG00000100814.18:ENST00000358932.9:exon7:c.G691A:p.G231R 14q11.2 C3L-01553 8.247e-06 0 0 0 0 1.5e-05 0 0 rs778623292 5.19 T T B B D D L . N 0.383 T T T 0.054 0.199 0.493 0.497 T T T T D T 3.132 23.700 0.997 D D 0.042 2.663 0.206 3.212 0.993 0.707 0.725 0.702 0.714 . 5.190 5.190 4.394 1.026 0.599 1.000 0.999 0.957 914 . . . . CCNB1IP1 397 0 271 51 0.158385093167702 TRUE NA +ENSG00000129566.13 . BCM GRCh38.p13 chr14 20381661 20381661 + G G A Missense_Mutation SNP ENST00000262715.10 exon31 c.C4450T p.R1484C exonic ENSG00000129566.13 . nonsynonymous SNV ENSG00000129566.13:ENST00000262715.10:exon31:c.C4450T:p.R1484C 14q11.2 C3L-01553 0.0001 0.0008 0 0 0 7.512e-05 0 6.136e-05 rs145747576 9.20 D D D P N D M T D 0.606 T T D 0.211 . 0.696 0.605 T T T T T D 4.144 28.100 0.999 D N 0.518 5.179 0.486 5.032 0.995 0.707 0.725 0.651 0.636 . 5.120 4.160 2.106 1.176 0.676 1.000 0.972 0.952 929 . . . ID=COSV52993766;OCCURENCE=1(stomach) TEP1 71 0 36 3 0.0769230769230769 TRUE NA +ENSG00000197324.9 . BCM GRCh38.p13 chr14 22875135 22875135 + A A G Missense_Mutation SNP ENST00000359591.9 exon4 c.A296G p.E99G exonic ENSG00000197324.9 . nonsynonymous SNV ENSG00000197324.9:ENST00000359591.9:exon4:c.A296G:p.E99G 14q11.2 C3L-01553 . . . . . . . . . 2.20 T T B B D N L T N 0.253 T T T 0.115 0.446 0.220 0.277 T T T T T T 2.697 22.800 0.984 D N -0.318 1.570 -0.114 2.009 1.000 0.706 0.698 0.710 0.714 . 5.400 5.400 1.303 1.233 0.665 0.999 1.000 0.938 803 CUB_domain . . . LRP10 58 0 57 3 0.05 TRUE TRUE +ENSG00000151445.16 . BCM GRCh38.p13 chr14 77442642 77442642 + C C T Missense_Mutation SNP ENST00000553888.5 exon10 c.G652A p.E218K exonic ENSG00000151445.16 . nonsynonymous SNV ENSG00000151445.16:ENST00000553888.5:exon10:c.G652A:p.E218K 14q24.3 C3L-01553 . . . . . . . . . 5.20 T T B B D D L T N 0.492 T T T 0.145 0.579 0.336 0.411 T T T T D D 2.229 21.100 0.995 D N -0.052 2.332 0.100 2.736 0.785 0.707 0.725 0.725 0.714 . 4.700 4.700 4.031 1.026 0.599 1.000 1.000 1.000 912 Vps16,_C-terminal . . . VIPAS39 467 0 259 83 0.242690058479532 TRUE TRUE +ENSG00000197102.12 . BCM GRCh38.p13 chr14 102050494 102050494 + C C - Frame_Shift_Del DEL ENST00000360184.10 exon78 c.13872delC p.F4624Lfs*27 exonic ENSG00000197102.12 . frameshift deletion ENSG00000197102.12:ENST00000360184.10:exon78:c.13872delC:p.F4624Lfs*27 14q32.31 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNC1H1 581 0 338 95 0.219399538106236 TRUE TRUE +ENSG00000092439.16 . BCM GRCh38.p13 chr15 50624230 50624230 + A A G Missense_Mutation SNP ENST00000646667.1 exon12 c.T1376C p.I459T exonic ENSG00000092439.16 . nonsynonymous SNV ENSG00000092439.16:ENST00000646667.1:exon12:c.T1376C:p.I459T 15q21.2 C3L-01553 2.488e-05 0.0001 8.658e-05 0.0001 0 0 0 0 rs55924090 17.20 D D D D D D M T D 0.898 T T D 0.503 0.304 0.502 0.370 D D D D D D 3.970 26.800 0.999 D D 0.771 8.242 0.742 8.626 1.000 0.732 0.744 0.659 0.728 . 4.910 4.910 9.228 1.312 0.756 1.000 1.000 0.998 560 . . . . TRPM7 106 0 61 22 0.265060240963855 TRUE NA +ENSG00000169612.4 . BCM GRCh38.p13 chr15 82989042 82989042 + - NA C Frame_Shift_Ins INS ENST00000304191.4 exon3 c.25dupC p.F11Vfs*2 exonic ENSG00000169612.4 . frameshift insertion ENSG00000169612.4:ENST00000304191.4:exon3:c.25dupC:p.F11Vfs*2 15q25.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAMAC NA NA NA NA NA NA NA +ENSG00000080603.17 . BCM GRCh38.p13 chr16 30712298 30712298 + C C A Missense_Mutation SNP ENST00000380361.7 exon10 c.C1795A p.L599I exonic ENSG00000080603.17;ENSG00000282034.1 . nonsynonymous SNV ENSG00000282034.1:ENST00000380361.7:exon10:c.C1795A:p.L599I,ENSG00000080603.17:ENST00000262518.9:exon13:c.C1852A:p.L618I 16p11.2 C3L-01553 . . . . . . . . . 17.20 D D D D D D H D N 0.702 D D D 0.755 0.687 0.870 0.580 T T D D D D 3.338 24.200 0.989 D D 0.757 7.999 0.710 7.934 1.000 0.707 0.702 0.725 0.711 . 5.220 5.220 3.222 1.026 0.599 0.997 1.000 0.991 10 Helicase_superfamily_1/2,_ATP-binding_domain . . . SRCAP 38 1 36 3 0.0769230769230769 TRUE NA +ENSG00000087245.13 . BCM GRCh38.p13 chr16 55479591 55479591 + C C G Missense_Mutation SNP ENST00000219070.9 exon1 c.C112G p.P38A exonic ENSG00000087245.13 . nonsynonymous SNV ENSG00000087245.13:ENST00000219070.9:exon1:c.C112G:p.P38A 16q12.2 C3L-01553 . . . . . . . . . 13.20 D D D D D D M T D 0.442 T T D 0.294 0.652 0.348 1.018 D T T T D T 3.976 26.800 0.995 D D 0.733 7.613 0.693 7.621 1.000 0.733 0.563 0.522 0.622 . 4.840 4.840 6.632 0.944 0.599 1.000 0.997 0.995 923 . . . . MMP2 336 0 177 57 0.243589743589744 TRUE TRUE +ENSG00000125107.18 . BCM GRCh38.p13 chr16 58575018 58575018 + G G A Nonsense_Mutation SNP ENST00000317147.10 exon15 c.C1816T p.R606X exonic ENSG00000125107.18 . stopgain ENSG00000125107.18:ENST00000317147.10:exon15:c.C1816T:p.R606X 16q21 C3L-01553 . . . . . . . . . 5.6 . . . . D A . . . 0.931 . . . . . . . . . D D . . 7.394 38 0.998 D N 0.816 9.098 0.624 6.538 0.149 0.707 0.725 0.725 0.714 . 5.290 3.230 2.706 0.161 0.676 1.000 0.999 0.999 216 CCR4-NOT_transcription_complex_subunit_1,_HEAT_repeat . . ID=COSV100410422;OCCURENCE=1(stomach) CNOT1 184 0 87 38 0.304 TRUE TRUE +ENSG00000087152.15 . BCM GRCh38.p13 chr17 44194532 44194532 + G G A Nonsense_Mutation SNP ENST00000389384.8 exon11 c.C880T p.Q294X exonic ENSG00000087152.15 . stopgain ENSG00000087152.15:ENST00000389384.8:exon11:c.C880T:p.Q294X 17q21.31 C3L-01553 . . . . . . . . . 4.6 . . . . N D . . . 0.333 . . . . . . . . . D D . . 7.954 40 0.997 D N 0.640 6.353 0.470 4.895 1.000 0.707 0.698 0.702 0.714 . 4.900 4.900 1.520 1.176 0.676 1.000 1.000 1.000 417 . . . . ATXN7L3 128 0 63 28 0.307692307692308 TRUE TRUE +ENSG00000179981.10 . BCM GRCh38.p13 chr18 75287716 75287716 + C C T Missense_Mutation SNP ENST00000580243.2 exon2 c.C2309T p.P770L exonic ENSG00000179981.10 . nonsynonymous SNV ENSG00000179981.10:ENST00000580243.2:exon2:c.C2309T:p.P770L 18q22.3 C3L-01553 . . . . . . . . . 16.20 D D D D D D M T D 0.899 T D D 0.490 0.465 0.620 1.087 T D D D D D 3.841 26.000 0.969 D N 0.232 3.449 0.136 2.887 1.000 0.563 0.654 0.547 0.636 . 5.260 5.260 7.507 0.947 0.599 1.000 0.989 0.971 1000 . . . ID=COSV59016735;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(lung) TSHZ1 216 0 133 11 0.0763888888888889 TRUE TRUE +ENSG00000099968.18 . BCM GRCh38.p13 chr22 17727488 17727488 + T T C Missense_Mutation SNP ENST00000317582.10 exon7 c.T1412C p.I471T exonic ENSG00000099968.18 . nonsynonymous SNV ENSG00000099968.18:ENST00000317582.10:exon7:c.T1412C:p.I471T 22q11.21 C3L-01553 . . . . . . . . . 7.20 D D P B N D M T D 0.335 T T T 0.238 0.404 0.773 0.160 T T T T D T 2.771 23.000 0.913 D N -0.371 1.448 -0.317 1.530 1.000 0.707 0.725 0.725 0.714 . 5.140 4.110 5.329 0.156 -0.249 0.980 0.355 0.009 994 . . . . BCL2L13 271 0 142 50 0.260416666666667 TRUE TRUE +ENSG00000133475.17 . BCM GRCh38.p13 chr22 21208191 21208192 + CA CA - Frame_Shift_Del DEL ENST00000401924.5 exon15 c.1656_1657del p.G553Lfs*25 exonic ENSG00000133475.17 . frameshift deletion ENSG00000133475.17:ENST00000401924.5:exon15:c.1656_1657del:p.G553Lfs*25 22q11.21 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GGT2 146 0 84 18 0.176470588235294 NA TRUE +ENSG00000100325.15 . BCM GRCh38.p13 chr22 29804707 29804707 + G G - Frame_Shift_Del DEL ENST00000307790.8 exon13 c.1284delC p.N428Kfs*5 exonic ENSG00000100325.15 . frameshift deletion ENSG00000100325.15:ENST00000307790.8:exon13:c.1284delC:p.N428Kfs*5 22q12.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASCC2 195 0 102 29 0.221374045801527 TRUE TRUE +ENSG00000069535.14 . BCM GRCh38.p13 chrX 43795801 43795801 + T T C Missense_Mutation SNP ENST00000378069.5 exon7 c.A706G p.I236V exonic ENSG00000069535.14 . nonsynonymous SNV ENSG00000069535.14:ENST00000378069.5:exon7:c.A706G:p.I236V Xp11.3 C3L-01553 . . . . . . . . . 3.19 T T B B N N N D N 0.059 T T D 0.202 0.522 0.454 0.392 T D T T T T 0.625 7.751 0.614 N . . . . . 0.000 . . . . . 5.290 2.910 0.309 1.138 0.665 0.042 0.943 0.953 611 Amine_oxidase . . . MAOB 58 0 29 19 0.395833333333333 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53194562 53194562 + A A T Nonsense_Mutation SNP ENST00000375401.8 exon23 c.T3615A p.C1205X exonic ENSG00000126012.12 . stopgain ENSG00000126012.12:ENST00000375401.8:exon23:c.T3615A:p.C1205X Xp11.22 C3L-01553 . . . . . . . . . 5.5 . . . . D A . . . 0.929 . . . . . . . . . D D . . 6.645 36 0.992 D . . . . . 0.763 . . . . . 4.610 2.250 2.387 1.312 0.754 1.000 1.000 0.999 92 Zinc_finger,_PHD-type;Zinc_finger,_PHD-type,_conserved_site . . . KDM5C 186 0 118 11 0.0852713178294574 NA TRUE +ENSG00000171004.18 . BCM GRCh38.p13 chrX 132628875 132628875 + C C A Missense_Mutation SNP ENST00000370836.6 exon4 c.G1166T p.R389L exonic ENSG00000171004.18 . nonsynonymous SNV ENSG00000171004.18:ENST00000370836.6:exon4:c.G1166T:p.R389L Xq26.2 C3L-01553 . . . . . . . . . 18.19 D D D D D D M T D 0.846 D D D 0.854 0.851 0.887 1.792 D D D D D D 4.231 29.000 0.998 D . . . . . 1.000 . . . . . 6.020 6.020 7.905 1.026 0.599 1.000 1.000 0.997 526 . . . ID=COSV104426291;OCCURENCE=1(large_intestine) HS6ST2 114 0 83 5 0.0568181818181818 TRUE TRUE +ENSG00000115109.14 . BCM GRCh38.p13 chr2 120143133 120143133 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000115109.14 ENST00000263713.10:exon19:c.1728+2T>A . . 2q14.2 C3L-01553 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.510 34 0.994 D . 1.014 14.371 0.852 11.835 0.718 0.162 0.061 0.079 0.246 0.875 5.180 5.180 5.222 1.134 0.599 1.000 0.991 0.982 825 . . . . EPB41L5 54 0 39 3 0.0714285714285714 TRUE NA +ENSG00000142611.17 . BCM GRCh38.p13 chr1 3405536 3405536 + G G T Silent SNP ENST00000270722.10 exon8 c.G1074T p.S358S exonic ENSG00000142611.17 . synonymous SNV ENSG00000142611.17:ENST00000270722.10:exon8:c.G1074T:p.S358S 1p36.32 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM16 66 0 56 3 0.0508474576271186 TRUE NA +ENSG00000214193.11 . BCM GRCh38.p13 chr1 36307285 36307285 + G G A Silent SNP ENST00000453908.8 exon4 c.G345A p.E115E exonic ENSG00000214193.11 . synonymous SNV ENSG00000214193.11:ENST00000453908.8:exon4:c.G345A:p.E115E 1p34.3 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SH3D21 91 0 94 24 0.203389830508475 TRUE TRUE +ENSG00000115306.16 . BCM GRCh38.p13 chr2 54631596 54631596 + C C A Silent SNP ENST00000356805.9 exon16 c.C3549A p.A1183A exonic ENSG00000115306.16 . synonymous SNV ENSG00000115306.16:ENST00000356805.9:exon16:c.C3549A:p.A1183A 2p16.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPTBN1 82 0 46 19 0.292307692307692 TRUE TRUE +ENSG00000176771.17 . BCM GRCh38.p13 chr2 132731887 132731887 + T T G Silent SNP ENST00000409261.6 exon17 c.A5293C p.R1765R exonic ENSG00000176771.17 . synonymous SNV ENSG00000176771.17:ENST00000409261.6:exon17:c.A5293C:p.R1765R 2q21.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCKAP5 333 1 177 36 0.169014084507042 TRUE TRUE +ENSG00000163510.14 . BCM GRCh38.p13 chr2 179952476 179952476 + C C T Silent SNP ENST00000410053.8 exon17 c.G1812A p.K604K exonic ENSG00000163510.14 . synonymous SNV ENSG00000163510.14:ENST00000410053.8:exon17:c.G1812A:p.K604K 2q31.3 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CWC22 45 0 41 15 0.267857142857143 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52648344 52648344 + C C T Silent SNP ENST00000296302.11 exon7 c.G813A p.K271K exonic ENSG00000163939.18 . synonymous SNV ENSG00000163939.18:ENST00000296302.11:exon7:c.G813A:p.K271K 3p21.1 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 107 0 32 35 0.522388059701492 TRUE TRUE +ENSG00000253537.3 . BCM GRCh38.p13 chr5 141384786 141384786 + T T C Silent SNP ENST00000518325.2 exon1 c.T1887C p.A629A exonic ENSG00000253537.3 . synonymous SNV ENSG00000253537.3:ENST00000518325.2:exon1:c.T1887C:p.A629A 5q31.3 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA7 170 0 87 52 0.37410071942446 NA TRUE +ENSG00000107719.9 . BCM GRCh38.p13 chr10 70529295 70529295 + G G T Silent SNP ENST00000263563.7 exon3 c.G252T p.R84R exonic ENSG00000107719.9 . synonymous SNV ENSG00000107719.9:ENST00000263563.7:exon3:c.G252T:p.R84R 10q22.1 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PALD1 165 0 115 36 0.23841059602649 TRUE TRUE +ENSG00000211584.14 . BCM GRCh38.p13 chr12 47780161 47780161 + C C A Silent SNP ENST00000442218.3 exon3 c.C321A p.T107T exonic ENSG00000211584.14 . synonymous SNV ENSG00000211584.14:ENST00000442218.3:exon3:c.C321A:p.T107T 12q13.11 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC48A1 61 0 36 3 0.0769230769230769 TRUE NA +ENSG00000105613.10 . BCM GRCh38.p13 chr19 12843607 12843607 + G G A Silent SNP ENST00000251472.9 exon4 c.G327A p.S109S exonic ENSG00000105613.10 . synonymous SNV ENSG00000105613.10:ENST00000251472.9:exon4:c.G327A:p.S109S 19p13.13 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAST1 102 0 59 10 0.144927536231884 TRUE TRUE +ENSG00000196267.12 . BCM GRCh38.p13 chr19 52156318 52156318 + T T G Silent SNP ENST00000597252.5 exon5 c.A1365C p.S455S exonic ENSG00000196267.12 . synonymous SNV ENSG00000196267.12:ENST00000597252.5:exon5:c.A1365C:p.S455S 19q13.41 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF836 313 0 147 47 0.242268041237113 TRUE TRUE +ENSG00000119862.13 . BCM GRCh38.p13 chr2 64456279 64456279 + T T G Intron SNP NA NA NA NA intronic ENSG00000119862.13 . . . 2p14 C3L-01553 8.238e-06 0 0 0 0 1.498e-05 0 0 rs752273671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LGALSL 163 0 68 5 0.0684931506849315 TRUE NA +ENSG00000079308.19 . BCM GRCh38.p13 chr2 217905316 217905316 + C C T Intron SNP NA NA NA NA intronic ENSG00000079308.19 . . . 2q35 C3L-01553 . . . . . . . . . 4.12 D . . . . N . D N . D D . 0.115 0.287 0.399 . . . T T T T 1.157 13.280 0.975 N N -0.446 1.286 -0.597 1.051 1.000 0.447 0.563 0.547 0.613 . 2.790 1.890 0.911 1.026 0.549 0.002 0.004 0.726 937 . . . . TNS1 64 0 29 14 0.325581395348837 NA TRUE +ENSG00000144848.11 . BCM GRCh38.p13 chr3 112536437 112536437 + T T C Intron SNP NA NA NA NA intronic ENSG00000144848.11 . . . 3q13.2 C3L-01553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATG3 133 0 57 57 0.5 TRUE NA +ENSG00000089876.12 . BCM GRCh38.p13 chr10 125853136 125853136 + G G A Intron SNP NA NA NA NA intronic ENSG00000089876.12 . . . 10q26.2 C3L-01553 . . . . . . . . . 3.18 D D B B N N . T N 0.095 T T T 0.120 0.392 0.203 0.108 T . T T D T 1.078 12.550 0.862 N N -0.902 0.517 -1.003 0.485 0.064 0.732 0.744 0.725 0.714 . 3.740 -0.397 0.005 0.981 0.676 0.000 0.002 0.008 939 . . . . DHX32 124 0 55 25 0.3125 TRUE TRUE +ENSG00000180758.12 . BCM GRCh38.p13 chr1 9111350 9111350 + T T C Missense_Mutation SNP ENST00000377411.5 exon2 c.A523G p.K175E exonic ENSG00000180758.12 . nonsynonymous SNV ENSG00000180758.12:ENST00000377411.5:exon2:c.A523G:p.K175E 1p36.22 C3L-01557 . . . . . . . . . 15.20 D D D D D D M T D 0.845 T T D 0.281 0.644 0.184 0.519 T T D D D D 4.306 29.600 0.999 D D 0.695 7.044 0.675 7.301 1.000 0.644 0.688 0.659 0.700 . 5.220 5.220 7.194 1.134 0.605 1.000 1.000 0.965 850 GPCR,_family_2-like;GPCR,_rhodopsin-like,_7TM . . . GPR157 508 1 373 130 0.25844930417495 TRUE TRUE +ENSG00000137936.18 . BCM GRCh38.p13 chr1 93589343 93589343 + A A G Missense_Mutation SNP ENST00000260502.11 exon5 c.T563C p.L188P exonic ENSG00000137936.18 . nonsynonymous SNV ENSG00000137936.18:ENST00000260502.11:exon5:c.T563C:p.L188P 1p22.1 C3L-01557 . . . . . . . . . 19.20 D D D D D D H D D 0.988 D D D 0.962 0.869 0.947 0.757 T D D D D D 4.230 28.900 0.999 D D 1.006 14.116 0.884 13.101 1.000 0.722 0.654 0.710 0.735 . 4.960 4.960 8.885 1.307 0.751 1.000 1.000 0.952 278 SH2_domain . . . BCAR3 289 0 196 88 0.309859154929577 TRUE TRUE +ENSG00000198691.13 . BCM GRCh38.p13 chr1 94047046 94047046 + C C T Missense_Mutation SNP ENST00000370225.4 exon19 c.G2791A p.V931M exonic ENSG00000198691.13 . nonsynonymous SNV ENSG00000198691.13:ENST00000370225.4:exon19:c.G2791A:p.V931M 1p22.1 C3L-01557 0.0005 0.0046 0.0002 0 0 7.522e-05 0.0011 0.0002 rs58331765 12.19 D D P B D A M D N 0.521 D D . 0.664 . 0.911 0.363 T D T D T D 2.283 21.500 0.999 D N 0.460 4.740 0.471 4.902 1.000 0.539 0.590 0.547 0.563 . 5.620 5.620 1.441 1.015 0.599 0.860 0.938 0.562 597 ABC_transporter-like . . . ABCA4 385 0 310 98 0.240196078431373 TRUE NA +ENSG00000143554.14 . BCM GRCh38.p13 chr1 153778857 153778857 + T T C Missense_Mutation SNP ENST00000624995.4 exon7 c.T1618C p.F540L exonic ENSG00000143554.14 . nonsynonymous SNV ENSG00000143554.14:ENST00000624995.4:exon7:c.T1618C:p.F540L 1q21.3 C3L-01557 . . . . . . . . . 10.16 D D . . D D . T D 0.889 T T T 0.549 0.751 0.640 0.625 T T D D D . 4.095 27.700 0.999 D D 0.811 8.995 0.742 8.623 1.000 0.732 0.710 0.723 0.728 . 5.140 5.140 6.158 1.138 0.665 1.000 0.966 0.994 73 AMP-dependent_synthetase/ligase . . . SLC27A3 305 0 243 176 0.420047732696897 TRUE TRUE +ENSG00000198797.7 . BCM GRCh38.p13 chr1 177281172 177281172 + C C G Missense_Mutation SNP ENST00000361539.5 exon8 c.C1996G p.L666V exonic ENSG00000198797.7 . nonsynonymous SNV ENSG00000198797.7:ENST00000361539.5:exon8:c.C1996G:p.L666V 1q25.2 C3L-01557 . . . . . . . . . 4.20 T T P B D D L T N 0.398 T T T 0.090 0.375 0.093 0.904 T T T T D D 1.173 13.420 0.989 N N -0.141 2.049 -0.141 1.934 0.364 0.554 0.574 0.602 0.564 . 5.160 4.240 0.128 1.026 0.549 0.014 0.997 0.993 729 . . . . BRINP2 258 0 299 47 0.135838150289017 TRUE TRUE +ENSG00000081237.20 . BCM GRCh38.p13 chr1 198749539 198749539 + C C A Missense_Mutation SNP ENST00000442510.8 exon28 c.C3062A p.S1021Y exonic ENSG00000081237.20 . nonsynonymous SNV ENSG00000081237.20:ENST00000442510.8:exon28:c.C3062A:p.S1021Y 1q32.1 C3L-01557 . . . . . . . . . 10.14 . D . . D D . T . 0.880 T T D 0.531 . 0.882 0.800 T . D D D D 3.777 25.700 0.996 D D 0.876 10.443 0.724 8.222 1.000 0.732 0.744 0.547 0.564 . 5.820 5.820 5.148 1.026 0.599 1.000 0.888 0.900 701 PTP_type_protein_phosphatase . . . PTPRC 212 0 204 122 0.374233128834356 TRUE TRUE +ENSG00000136628.18 . BCM GRCh38.p13 chr1 219988595 219988595 + G G C Missense_Mutation SNP ENST00000366923.8 exon19 c.C2770G p.P924A exonic ENSG00000136628.18 . nonsynonymous SNV ENSG00000136628.18:ENST00000366923.8:exon19:c.C2770G:p.P924A 1q41 C3L-01557 . . . . . . . . rs1051521545 1.20 T T B B N N N T N 0.058 T T T 0.029 0.416 0.226 0.151 T T T T T D 0.140 2.476 0.535 N N -1.194 0.231 -1.074 0.402 1.000 0.731 0.750 0.725 0.714 . 5.880 -1.070 0.405 0.271 -0.112 0.077 0.993 0.864 888 WHEP-TRS_domain . . . EPRS1 135 0 147 39 0.209677419354839 TRUE NA +ENSG00000179915.23 . BCM GRCh38.p13 chr2 50621242 50621242 + C C T Missense_Mutation SNP ENST00000406316.6 exon7 c.G1142A p.G381D exonic ENSG00000179915.23 . nonsynonymous SNV ENSG00000179915.23:ENST00000406316.6:exon7:c.G1142A:p.G381D 2p16.3 C3L-01557 . . . . . . . . . 15.20 D D D D D D L T D 0.887 T T D 0.548 0.589 0.399 1.635 D T D D D D 3.755 25.600 0.997 D D 0.725 7.491 0.689 7.554 1.000 0.534 0.574 0.686 0.564 . 4.470 4.470 7.902 1.026 0.549 1.000 1.000 0.999 786 Laminin_G_domain . . ID=COSV100455337;OCCURENCE=1(breast) NRXN1 112 0 77 27 0.259615384615385 TRUE TRUE +ENSG00000121152.10 . BCM GRCh38.p13 chr2 96344215 96344215 + G G C Missense_Mutation SNP ENST00000240423.9 exon6 c.G706C p.D236H exonic ENSG00000121152.10 . nonsynonymous SNV ENSG00000121152.10:ENST00000240423.9:exon6:c.G706C:p.D236H 2q11.2 C3L-01557 . . . . . . . . . 14.20 D D D P D D M T D 0.469 T T D 0.360 0.695 0.807 0.722 T T D D D D 3.437 24.500 0.996 D D 0.801 8.800 0.801 10.164 1.000 0.707 0.648 0.725 0.714 . 5.740 5.740 6.726 1.176 0.676 1.000 0.913 0.824 289 . . . . NCAPH 100 0 45 30 0.4 TRUE TRUE +ENSG00000153201.16 . BCM GRCh38.p13 chr2 108763379 108763379 + A A G Missense_Mutation SNP ENST00000283195.11 exon20 c.A2840G p.E947G exonic ENSG00000153201.16 . nonsynonymous SNV ENSG00000153201.16:ENST00000283195.11:exon20:c.A2840G:p.E947G 2q13 C3L-01557 . . . . . . . . . 10.19 D D D P . D L T D 0.320 T T T 0.198 0.171 0.257 0.408 T D T T D D 3.327 24.200 0.998 D D 0.556 5.500 0.606 6.300 1.000 0.707 0.725 0.725 0.714 . 5.190 5.190 9.246 1.312 0.756 1.000 1.000 0.939 836 . . . . RANBP2 383 0 309 130 0.296127562642369 TRUE TRUE +ENSG00000115020.17 . BCM GRCh38.p13 chr2 208345181 208345181 + C C T Missense_Mutation SNP ENST00000264380.9 exon33 c.C5098T p.L1700F exonic ENSG00000115020.17 . nonsynonymous SNV ENSG00000115020.17:ENST00000264380.9:exon33:c.C5098T:p.L1700F 2q34 C3L-01557 . . . . . . . . . 3.20 T T P B N D M T N 0.253 T T T 0.047 0.347 0.354 0.309 T T T T T T 2.372 22.000 0.994 D N 0.119 2.961 0.202 3.191 0.527 0.732 0.744 0.744 0.553 . 5.420 5.420 2.183 1.008 0.549 1.000 0.991 0.491 758 . . . . PIKFYVE 297 0 212 68 0.242857142857143 TRUE TRUE +ENSG00000078018.20 . BCM GRCh38.p13 chr2 209695258 209695258 + C C A Missense_Mutation SNP ENST00000360351.8 exon7 c.C3088A p.P1030T exonic ENSG00000078018.20 . nonsynonymous SNV ENSG00000078018.20:ENST00000360351.8:exon7:c.C3088A:p.P1030T 2q34 C3L-01557 . . . . . . . . . 0.20 T T B B N N L T N 0.055 T T T 0.011 0.511 0.068 0.066 T T T T T T -0.101 0.826 0.471 N N -0.939 0.472 -0.879 0.649 0.001 0.615 0.547 0.574 0.655 . 6.030 2.180 -0.589 0.131 -0.172 0.000 0.156 0.388 824 MAP2/Tau_projection . . . MAP2 110 1 81 6 0.0689655172413793 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52668596 52668596 + T T A Nonsense_Mutation SNP ENST00000296302.11 exon3 c.A286T p.K96X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon3:c.A286T:p.K96X 3p21.1 C3L-01557 . . . . . . . . . 5.6 . . . . D A . . . 0.856 . . . . . . . . . D D . . 6.802 36 0.996 D N 0.914 11.427 0.802 10.174 1.000 0.732 0.744 0.710 0.728 . 5.510 5.510 7.248 1.137 0.665 1.000 1.000 0.999 28 Bromodomain,_conserved_site;Bromodomain . . ID=COSV56297688;OCCURENCE=1(kidney) PBRM1 138 0 49 39 0.443181818181818 TRUE TRUE +ENSG00000036054.13 . BCM GRCh38.p13 chr3 100261035 100261035 + A A C Missense_Mutation SNP ENST00000394144.9 exon1 c.A17C p.D6A exonic ENSG00000036054.13 . nonsynonymous SNV ENSG00000036054.13:ENST00000394144.9:exon1:c.A17C:p.D6A 3q12.1 C3L-01557 . . . . . . . . . 0.20 T T B B N N N T N 0.360 T T T 0.033 0.173 0.194 0.304 T T T T T T 2.559 22.600 0.804 N N -0.800 0.655 -0.684 0.923 1.000 0.267 0.219 0.520 0.373 . 4.890 2.540 1.929 0.321 -0.050 0.998 0.281 0.196 532 . . . . TBC1D23 203 1 115 37 0.243421052631579 TRUE TRUE +ENSG00000113100.10 . BCM GRCh38.p13 chr5 26881581 26881581 + T T C Missense_Mutation SNP ENST00000231021.9 exon12 c.A1925G p.K642R exonic ENSG00000113100.10 . nonsynonymous SNV ENSG00000113100.10:ENST00000231021.9:exon12:c.A1925G:p.K642R 5p14.1 C3L-01557 . . . . . . . . . 14.20 D D D D D D M T N 0.335 D D D 0.600 0.593 0.854 0.941 T T T T D D 4.057 27.400 0.999 D D 0.745 7.796 0.669 7.205 1.000 0.554 0.574 0.618 0.564 . 4.960 4.960 7.796 1.134 0.661 1.000 0.996 0.975 777 Cadherin,_cytoplasmic_domain . . . CDH9 158 0 184 57 0.236514522821577 TRUE TRUE +ENSG00000035499.13 . BCM GRCh38.p13 chr5 60644760 60644760 + - NA A Frame_Shift_Ins NA ENST00000265036.10 exon5 c.693dupT p.L232Sfs*2 exonic ENSG00000035499.13 . frameshift insertion ENSG00000035499.13:ENST00000265036.10:exon5:c.693dupT:p.L232Sfs*2 5q12.1 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DEPDC1B NA NA NA NA NA NA NA +ENSG00000113615.13 . BCM GRCh38.p13 chr5 134674723 134674723 + G G T Missense_Mutation SNP ENST00000398844.7 exon5 c.G926T p.G309V exonic ENSG00000113615.13 . nonsynonymous SNV ENSG00000113615.13:ENST00000398844.7:exon5:c.G926T:p.G309V 5q31.1 C3L-01557 . . . . . . . . . 5.20 D T B B N D M T D 0.699 T T T 0.118 0.255 0.392 0.143 T T T T T T 2.463 22.300 0.968 D N -0.187 1.912 -0.083 2.095 0.052 0.732 0.725 0.744 0.714 . 5.030 4.150 2.246 1.106 0.596 1.000 0.449 0.588 756 . . . ID=COSV100524711;OCCURENCE=1(skin) SEC24A 128 0 202 22 0.0982142857142857 TRUE TRUE +ENSG00000244476.3 . BCM GRCh38.p13 chr6 11103719 11103719 + C C T Missense_Mutation SNP ENST00000472091.2 exon2 c.G1592A p.R531H exonic ENSG00000244476.3 . nonsynonymous SNV ENSG00000244476.3:ENST00000472091.2:exon2:c.G1592A:p.R531H 6p24.2 C3L-01557 5.1e-05 0 0 0 0 0.0001 0 0 rs767650592 2.19 T D D P N N . T N 0.072 T T T 0.092 0.198 0.030 0.779 T T T T T T 0.792 9.314 0.987 N N -1.023 0.380 -1.264 0.233 0.988 0.523 0.545 0.547 0.613 . 0.225 -0.451 -0.636 -0.440 -0.568 0.040 0.152 0.080 804 . . . . ERVFRD-1 65 0 59 7 0.106060606060606 TRUE NA +ENSG00000204564.12 . BCM GRCh38.p13 chr6 30652861 30652861 + G G - Frame_Shift_Del DEL ENST00000376473.9 exon6 c.894delG p.A299Pfs*11 exonic ENSG00000204564.12 . frameshift deletion ENSG00000204564.12:ENST00000376473.9:exon6:c.894delG:p.A299Pfs*11 6p21.33 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C6orf136 341 0 253 79 0.237951807228916 TRUE TRUE +ENSG00000204371.11 . BCM GRCh38.p13 chr6 31880688 31880688 + G G T Missense_Mutation SNP ENST00000375537.8 exon27 c.C3437A p.T1146N exonic ENSG00000204371.11 . nonsynonymous SNV ENSG00000204371.11:ENST00000375537.8:exon27:c.C3437A:p.T1146N 6p21.33 C3L-01557 . . . . . . . . . 6.19 T D B B D D N T N 0.309 T T T 0.284 0.461 0.878 1.252 T T T T D . 2.600 22.600 0.989 D D -0.108 2.148 0.057 2.566 1.000 0.719 0.723 0.698 0.714 . 4.210 4.210 4.960 1.176 0.676 0.973 0.999 0.995 912 SET_domain . . . EHMT2 109 0 94 36 0.276923076923077 TRUE TRUE +ENSG00000146197.9 . BCM GRCh38.p13 chr6 35245414 35245414 + T T A Missense_Mutation SNP ENST00000274938.8 exon19 c.T2588A p.M863K exonic ENSG00000146197.9 . nonsynonymous SNV ENSG00000146197.9:ENST00000274938.8:exon19:c.T2588A:p.M863K 6p21.31 C3L-01557 . . . . . . . . . 16.20 D D D D D D M T D 0.843 T T D 0.644 0.836 0.517 1.203 D T D D D D 4.169 28.400 0.987 D D 0.777 8.338 0.760 9.030 1.000 0.563 0.547 0.602 0.636 . 5.430 5.430 8.017 1.138 0.665 1.000 1.000 1.000 248 CUB_domain . . . SCUBE3 239 0 160 80 0.333333333333333 TRUE TRUE +ENSG00000071994.11 . BCM GRCh38.p13 chr6 170580093 170580093 + T T C Missense_Mutation SNP ENST00000541970.6 exon4 c.A671G p.E224G exonic ENSG00000071994.11 . nonsynonymous SNV ENSG00000071994.11:ENST00000541970.6:exon4:c.A671G:p.E224G 6q27 C3L-01557 . . . . . . . . . 8.19 D D P P N D M . D 0.458 T T T 0.283 0.599 0.650 0.178 T T D T D T 3.762 25.700 0.998 D N 0.407 4.388 0.387 4.269 0.999 0.672 0.702 0.644 0.711 . 5.390 4.210 3.539 1.138 0.665 1.000 0.965 0.988 900 Programmed_cell_death_protein_2,_C-terminal . . . PDCD2 68 0 58 23 0.283950617283951 TRUE TRUE +ENSG00000158321.18 . BCM GRCh38.p13 chr7 70787359 70787359 + C C A Missense_Mutation SNP ENST00000342771.10 exon18 c.C2459A p.S820Y exonic ENSG00000158321.18 . nonsynonymous SNV ENSG00000158321.18:ENST00000342771.10:exon18:c.C2459A:p.S820Y 7q11.22 C3L-01557 . . . . . . . . . 12.20 D D D P D D M T D 0.571 T T D 0.182 0.213 0.225 1.391 T T T T D D 3.838 26.000 0.994 D D 0.547 5.425 0.546 5.607 1.000 0.707 0.725 0.702 0.564 . 4.350 4.350 6.994 1.026 0.599 1.000 1.000 1.000 923 . . . . AUTS2 270 0 266 71 0.210682492581602 TRUE TRUE +ENSG00000001626.16 . BCM GRCh38.p13 chr7 117610524 117610527 + ATTA ATTA - Nonsense_Mutation DEL ENST00000003084.11 exon19 c.2994_2997del p.I1000* exonic ENSG00000001626.16 . stopgain ENSG00000001626.16:ENST00000003084.11:exon19:c.2994_2997del:p.I1000* 7q31.2 C3L-01557 . . . . . . . . rs397508472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFTR 316 0 240 173 0.418886198547215 TRUE TRUE +ENSG00000157680.15 . BCM GRCh38.p13 chr7 137581873 137581873 + G G - Frame_Shift_Del DEL ENST00000288490.9 exon15 c.1619delC p.T540Nfs*61 exonic ENSG00000157680.15 . frameshift deletion ENSG00000157680.15:ENST00000288490.9:exon15:c.1619delC:p.T540Nfs*61 7q33 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGKI 145 0 185 16 0.0796019900497512 TRUE TRUE +ENSG00000146918.20 . BCM GRCh38.p13 chr7 158671564 158671564 + C C G Missense_Mutation SNP ENST00000356309.8 exon13 c.G1429C p.V477L exonic ENSG00000146918.20 . nonsynonymous SNV ENSG00000146918.20:ENST00000356309.8:exon13:c.G1429C:p.V477L 7q36.3 C3L-01557 . . . . . . . . . 9.20 T D D P D D L T N 0.433 T T D 0.144 0.506 0.496 1.173 T T T T D D 2.304 21.600 0.996 D D 0.352 4.060 0.372 4.169 1.000 0.707 0.725 0.725 0.714 . 5.770 5.770 4.499 1.026 0.597 1.000 0.687 0.370 856 . . . . NCAPG2 365 0 268 77 0.223188405797101 TRUE TRUE +ENSG00000146918.20 . BCM GRCh38.p13 chr7 158693462 158693464 + TAA TAA - In_Frame_Del DEL ENST00000356309.8 exon3 c.112_114del p.L39del exonic ENSG00000146918.20 . nonframeshift deletion ENSG00000146918.20:ENST00000356309.8:exon3:c.112_114del:p.L39del 7q36.3 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCAPG2 158 0 107 99 0.480582524271845 TRUE TRUE +ENSG00000123240.17 . BCM GRCh38.p13 chr10 13136808 13136808 + G G T Missense_Mutation SNP ENST00000378747.8 exon15 c.G1676T p.G559V exonic ENSG00000123240.17 . nonsynonymous SNV ENSG00000123240.17:ENST00000378747.8:exon15:c.G1676T:p.G559V 10p13 C3L-01557 . . . . . . . . . 16.20 D D D D N D M D D 0.550 D D D 0.543 0.397 0.971 0.771 T T D D D D 3.814 25.900 0.997 D N 0.380 4.220 0.326 3.872 0.999 0.707 0.725 0.644 0.714 . 5.910 4.980 2.653 1.176 0.676 1.000 0.885 0.982 940 NEMO,_Zinc_finger . . . OPTN 501 0 409 150 0.268336314847943 TRUE TRUE +ENSG00000108175.17 . BCM GRCh38.p13 chr10 79293597 79293597 + G G T Missense_Mutation SNP ENST00000334512.10 exon12 c.G1174T p.G392C exonic ENSG00000108175.17 . nonsynonymous SNV ENSG00000108175.17:ENST00000334512.10:exon12:c.G1174T:p.G392C 10q22.3 C3L-01557 . . . . . . . . . 15.20 D D D D U D M T D 0.830 T T D 0.513 0.283 0.383 1.520 T D D D D D 4.239 29.000 0.998 D D 0.769 8.204 0.739 8.556 1.000 0.722 0.699 0.723 0.662 . 4.910 4.910 9.517 1.176 0.618 1.000 0.998 0.997 897 . . . . ZMIZ1 211 0 182 30 0.141509433962264 TRUE TRUE +ENSG00000107862.5 . BCM GRCh38.p13 chr10 102379602 102379602 + A A T Missense_Mutation SNP ENST00000369983.3 exon35 c.A4724T p.H1575L exonic ENSG00000107862.5 . nonsynonymous SNV ENSG00000107862.5:ENST00000369983.3:exon35:c.A4724T:p.H1575L 10q24.32 C3L-01557 . . . . . . . . . 13.20 D D B B D D L T D 0.831 T T D 0.339 0.447 0.698 1.233 D T D D D D 3.251 24.000 0.973 D D 0.261 3.587 0.292 3.670 0.942 0.732 0.702 0.744 0.714 . 5.170 4.020 6.965 1.312 0.756 1.000 0.980 0.860 725 . . . . GBF1 250 0 171 45 0.208333333333333 TRUE TRUE +ENSG00000148773.14 . BCM GRCh38.p13 chr10 128106340 128106340 + C C T Missense_Mutation SNP ENST00000368654.8 exon13 c.G5500A p.G1834S exonic ENSG00000148773.14 . nonsynonymous SNV ENSG00000148773.14:ENST00000368654.8:exon13:c.G5500A:p.G1834S 10q26.2 C3L-01557 . . . . . . . . . 5.20 T T D D D N M T N 0.358 T T T 0.080 0.571 0.225 0.299 T T T T D T 2.018 19.390 0.990 N N -0.471 1.234 -0.720 0.871 1.000 0.707 0.702 0.725 0.714 . 2.960 0.969 0.453 -0.541 0.454 0.000 0.000 0.183 969 . . . . MKI67 114 0 125 27 0.177631578947368 TRUE TRUE +ENSG00000110436.13 . BCM GRCh38.p13 chr11 35292306 35292306 + C C T Missense_Mutation SNP ENST00000278379.9 exon7 c.G1072A p.A358T exonic ENSG00000110436.13 . nonsynonymous SNV ENSG00000110436.13:ENST00000278379.9:exon7:c.G1072A:p.A358T 11p13 C3L-01557 . . . . . . . . . 19.20 D D D D D D H T D 0.964 D D D 0.900 0.920 0.898 1.468 D D D D D D 4.072 27.500 0.999 D D 1.029 14.846 0.953 16.240 1.000 0.447 0.492 0.547 0.530 . 5.630 5.630 7.905 1.026 0.599 1.000 0.998 0.940 537 . . . . SLC1A2 146 0 152 9 0.0559006211180124 TRUE TRUE +ENSG00000185085.2 . BCM GRCh38.p13 chr11 62648349 62648349 + G G - Frame_Shift_Del DEL ENST00000330574.2 exon2 c.1731delC p.L578Wfs*4 exonic ENSG00000185085.2 . frameshift deletion ENSG00000185085.2:ENST00000330574.2:exon2:c.1731delC:p.L578Wfs*4 11q12.3 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INTS5 119 0 87 36 0.292682926829268 TRUE TRUE +ENSG00000139219.19 . BCM GRCh38.p13 chr12 47986389 47986389 + C C G Missense_Mutation SNP ENST00000380518.8 exon23 c.G1474C p.G492R exonic ENSG00000139219.19 . nonsynonymous SNV ENSG00000139219.19:ENST00000380518.8:exon23:c.G1474C:p.G492R 12q13.11 C3L-01557 . . . . . . . . . 20.20 D D D D D D H D D 0.939 D D D 0.984 0.974 0.986 2.003 D D D D D D 4.006 27.000 0.999 D D 0.943 12.225 0.832 11.137 1.000 0.615 0.590 0.659 0.564 . 4.870 4.870 7.905 1.026 0.599 1.000 0.998 0.972 612 . . . . COL2A1 242 0 170 42 0.19811320754717 TRUE TRUE +ENSG00000122965.11 . BCM GRCh38.p13 chr12 113927056 113927056 + C C T Missense_Mutation SNP ENST00000261741.10 exon17 c.G2242A p.E748K exonic ENSG00000122965.11 . nonsynonymous SNV ENSG00000122965.11:ENST00000261741.10:exon17:c.G2242A:p.E748K 12q24.21 C3L-01557 . . . . . . . . . 1.20 T T B B N N N T N 0.177 T T T 0.107 0.477 0.510 0.143 T T T T T D 0.645 7.945 0.936 N N -1.303 0.163 -1.262 0.235 0.384 0.742 0.778 0.725 0.714 . 5.260 -0.101 0.458 -0.310 -0.313 0.105 0.206 0.358 900 RNA_recognition_motif_domain;Probable_RNA-binding_protein_19,_RNA_recognition_motif_5;RNA_recognition_motif_domain,_eukaryote . . . RBM19 77 0 65 36 0.356435643564356 TRUE TRUE +ENSG00000140015.20 . BCM GRCh38.p13 chr14 62779820 62779820 + G G A Missense_Mutation SNP ENST00000322893.12 exon10 c.C1927T p.R643W exonic ENSG00000140015.20 . nonsynonymous SNV ENSG00000140015.20:ENST00000322893.12:exon10:c.C1927T:p.R643W 14q23.2 C3L-01557 1.649e-05 0 0 0 0 1.5e-05 0 6.057e-05 rs771984476 20.20 D D D D D D M D D 0.941 D D D 0.874 0.719 0.976 1.770 D D D D D D 3.785 25.800 0.999 D D 0.465 4.778 0.357 4.069 0.490 0.487 0.574 0.547 0.564 . 5.720 1.580 0.802 0.186 0.618 1.000 0.998 0.999 828 Cyclic_nucleotide-binding_domain . . . KCNH5 199 0 87 36 0.292682926829268 TRUE NA +ENSG00000137841.12 . BCM GRCh38.p13 chr15 40288740 40288740 + G G T Missense_Mutation SNP ENST00000260402.8 exon32 c.C3533A p.A1178E exonic ENSG00000137841.12 . nonsynonymous SNV ENSG00000137841.12:ENST00000260402.8:exon32:c.C3533A:p.A1178E 15q15.1 C3L-01557 . . . . . . . . . 0.20 T T B B N N L T N 0.103 T T T 0.012 0.140 0.312 0.359 T T T T T T 0.451 5.982 0.711 N N -1.185 0.238 -1.185 0.296 1.000 0.696 0.723 0.597 0.700 . 5.680 -1.340 0.046 0.224 0.676 0.000 0.001 0.015 675 . . . . PLCB2 49 0 50 3 0.0566037735849057 TRUE NA +ENSG00000102901.13 . BCM GRCh38.p13 chr16 67830479 67830479 + A A G Missense_Mutation SNP ENST00000562787.6 exon11 c.T773C p.L258P exonic ENSG00000102901.13 . nonsynonymous SNV ENSG00000102901.13:ENST00000562787.6:exon11:c.T773C:p.L258P 16q22.1 C3L-01557 . . . . . . . . . 3.20 D T B B N N L T D 0.708 T T T 0.163 0.509 0.368 0.588 T T T T T T 2.267 21.400 0.995 D N -0.412 1.356 -0.434 1.311 0.856 0.707 0.725 0.725 0.714 . 5.200 2.800 1.517 -0.073 -0.100 0.995 0.034 0.004 8 Centromere_kinetochore_component_CENP-T,_N-terminal_domain . . . CENPT 199 0 87 20 0.186915887850467 TRUE TRUE +ENSG00000189091.13 . BCM GRCh38.p13 chr16 70530877 70530877 + T T A Missense_Mutation SNP ENST00000302516.10 exon4 c.T530A p.F177Y exonic ENSG00000189091.13 . nonsynonymous SNV ENSG00000189091.13:ENST00000302516.10:exon4:c.T530A:p.F177Y 16q22.1 C3L-01557 . . . . . . . . . 7.20 T T B B D D L T N 0.673 T T T 0.209 0.541 0.599 1.470 D T T T D D 2.591 22.600 0.979 D D -0.004 2.496 0.205 3.206 1.000 0.722 0.699 0.702 0.711 . 5.570 5.570 8.010 1.125 0.593 1.000 1.000 0.995 103 . . . . SF3B3 123 0 107 35 0.246478873239437 TRUE TRUE +ENSG00000189091.13 . BCM GRCh38.p13 chr16 70530891 70530891 + T T G Missense_Mutation SNP ENST00000302516.10 exon4 c.T544G p.F182V exonic ENSG00000189091.13 . nonsynonymous SNV ENSG00000189091.13:ENST00000302516.10:exon4:c.T544G:p.F182V 16q22.1 C3L-01557 . . . . . . . . . 14.20 D D P P D D H T D 0.831 T T D 0.583 0.506 0.766 2.468 D T D D D D 4.161 28.300 0.993 D D 0.886 10.698 0.829 11.047 1.000 0.722 0.699 0.702 0.711 . 5.570 5.570 8.010 1.125 0.593 1.000 1.000 0.999 103 . . . . SF3B3 93 0 88 29 0.247863247863248 TRUE TRUE +ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675232 7675232 + G G T Missense_Mutation SNP ENST00000269305.8 exon5 c.C380A p.S127Y exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C380A:p.S127Y 17p13.1 C3L-01557 . . . . . . . . . 19.20 D D D D D D M D D 0.955 D D D 0.918 0.829 0.995 1.882 T D D D D D 3.934 26.600 0.993 D D 0.881 10.572 0.796 10.009 1.000 0.722 0.702 0.698 0.735 . 5.480 4.510 9.948 1.176 0.676 1.000 0.792 0.922 434 p53,_DNA-binding_domain . . ID=COSV52731113;OCCURENCE=3(breast),2(liver),4(oesophagus),3(central_nervous_system),2(biliary_tract),1(ovary),1(NS),1(haematopoietic_and_lymphoid_tissue),2(urinary_tract),3(pancreas),2(prostate),2(lung),4(upper_aerodigestive_tract),2(small_intestine),2(endometrium) TP53 268 1 159 31 0.163157894736842 TRUE TRUE +ENSG00000275832.5 . BCM GRCh38.p13 chr17 38466581 38466581 + G G T Missense_Mutation SNP ENST00000622683.5 exon7 c.G898T p.A300S exonic ENSG00000275832.5 . nonsynonymous SNV ENSG00000275832.5:ENST00000622683.5:exon7:c.G898T:p.A300S 17q12 C3L-01557 . . . . . . . . . 1.15 . T B B . N N . . 0.111 T T T 0.098 0.122 0.234 . T T T T T . 1.765 17.480 0.757 D N -0.473 1.231 -0.236 1.703 1.000 0.707 0.588 0.644 0.714 . 4.090 3.030 1.608 1.101 0.588 0.914 0.997 0.988 114 . . . . ARHGAP23 45 0 30 3 0.0909090909090909 TRUE NA +ENSG00000173821.19 . BCM GRCh38.p13 chr17 80371930 80371930 + C C G Missense_Mutation SNP ENST00000508628.6 exon48 c.C12629G p.A4210G exonic ENSG00000173821.19 . nonsynonymous SNV ENSG00000173821.19:ENST00000508628.6:exon48:c.C12629G:p.A4210G 17q25.3 C3L-01557 . . . . . . . . . 0.17 T T . . N N . T N 0.234 T T T 0.032 . 0.270 0.294 T T T T T T 1.191 13.570 0.630 N N -0.461 1.255 -0.528 1.157 0.001 0.732 0.725 0.744 0.728 . 5.370 4.410 0.694 1.026 0.599 0.000 0.029 0.069 873 . . . . RNF213 162 0 158 43 0.213930348258706 TRUE TRUE +ENSG00000141424.13 . BCM GRCh38.p13 chr18 36114135 36114135 + C C A Missense_Mutation SNP ENST00000269187.10 exon7 c.G1805T p.G602V exonic ENSG00000141424.13 . nonsynonymous SNV ENSG00000141424.13:ENST00000269187.10:exon7:c.G1805T:p.G602V 18q12.2 C3L-01557 . . . . . . . . . 16.20 D D D D D D M T D 0.991 T T D 0.649 0.894 0.903 2.365 D T D D D D 3.816 25.900 0.998 D D 0.779 8.378 0.756 8.944 1.000 0.707 0.725 0.725 0.714 . 6.040 6.040 6.151 1.026 0.599 1.000 0.789 0.645 962 . . . . SLC39A6 65 1 58 25 0.301204819277108 TRUE TRUE +ENSG00000132024.17 . BCM GRCh38.p13 chr19 13918160 13918160 + C C T Missense_Mutation SNP ENST00000318003.11 exon7 c.C839T p.T280I exonic ENSG00000132024.17 . nonsynonymous SNV ENSG00000132024.17:ENST00000318003.11:exon7:c.C839T:p.T280I 19p13.12 C3L-01557 . . . . . . . . . 0.20 T T B B N N L T N 0.297 T T T 0.004 0.282 0.211 0.228 T T T T T T 0.231 3.484 0.277 N N -1.102 0.305 -1.112 0.363 0.002 0.718 0.644 0.571 0.636 . 5.370 0.561 0.049 -0.348 -0.869 0.000 0.011 0.014 934 Domain_of_unknown_function_DM14 . . . CC2D1A 130 0 86 50 0.367647058823529 TRUE TRUE +ENSG00000128626.11 . BCM GRCh38.p13 chr19 38932695 38932695 + A A T Nonsense_Mutation SNP ENST00000407800.2 exon2 c.A412T p.K138X exonic ENSG00000128626.11 . stopgain ENSG00000128626.11:ENST00000407800.2:exon2:c.A412T:p.K138X 19q13.2 C3L-01557 8.536e-06 0 8.715e-05 0 0 0 0 0 rs748357360 5.6 . . . . D D . . . 0.165 . . . . . . . . . D D . . 8.101 41 0.996 D N 0.964 12.834 0.826 10.927 1.000 0.713 0.672 0.636 0.714 . 5.850 5.850 2.617 1.312 0.756 1.000 0.997 0.936 675 . . . . MRPS12 162 0 116 10 0.0793650793650794 TRUE TRUE +ENSG00000179709.8 . BCM GRCh38.p13 chr19 55954534 55954534 + A A G Missense_Mutation SNP ENST00000291971.7 exon3 c.A476G p.E159G exonic ENSG00000179709.8 . nonsynonymous SNV ENSG00000179709.8:ENST00000291971.7:exon3:c.A476G:p.E159G 19q13.43 C3L-01557 . . . . . . . . . 2.19 D T B B . N N T D 0.111 T T T 0.157 0.390 0.241 0.074 T T T T T T 0.242 3.615 0.805 N N -1.971 0.010 -2.085 0.009 0.014 0.487 0.574 0.547 0.564 . 1.770 -3.530 -0.415 -0.085 -0.205 0.000 0.000 0.002 946 . . . . NLRP8 150 0 118 50 0.297619047619048 TRUE TRUE +ENSG00000183570.16 . BCM GRCh38.p13 chr21 45913982 45913982 + G G A Missense_Mutation SNP ENST00000400314.5 exon10 c.G632A p.R211H exonic ENSG00000183570.16 . nonsynonymous SNV ENSG00000183570.16:ENST00000400314.5:exon10:c.G632A:p.R211H 21q22.3 C3L-01557 . . . . . . . . . 10.20 T T D P D D M T D 0.810 T T T 0.305 . 0.342 0.589 D T T T D D 4.034 27.200 0.998 D D 0.452 4.683 0.536 5.508 1.000 0.696 0.588 0.723 0.613 . 5.130 5.130 9.404 1.117 0.672 1.000 1.000 1.000 940 . . . ID=COSV68407473;OCCURENCE=1(large_intestine),2(stomach) PCBP3 141 0 96 45 0.319148936170213 TRUE TRUE +ENSG00000183762.12 . BCM GRCh38.p13 chr22 29121381 29121381 + A A T Missense_Mutation SNP ENST00000407188.5 exon4 c.A371T p.K124M exonic ENSG00000183762.12 . nonsynonymous SNV ENSG00000183762.12:ENST00000407188.5:exon4:c.A371T:p.K124M 22q12.1 C3L-01557 . . . . . . . . . 6.20 T T D P N D L T N 0.645 T T D 0.228 0.572 0.591 0.815 T T T T D T 3.412 24.400 0.995 D D 0.482 4.895 0.473 4.921 1.000 0.638 0.588 0.653 0.616 . 5.140 3.900 3.532 1.301 0.756 1.000 1.000 1.000 514 Carbohydrate-binding_WSC . . . KREMEN1 206 0 210 91 0.302325581395349 TRUE TRUE +ENSG00000102098.19 . BCM GRCh38.p13 chrX 18256994 18256994 + G G A Missense_Mutation SNP ENST00000251900.9 exon11 c.C1310T p.P437L exonic ENSG00000102098.19 . nonsynonymous SNV ENSG00000102098.19:ENST00000251900.9:exon11:c.C1310T:p.P437L Xp22.13 C3L-01557 . . . . . . . . . 14.19 D D D D D D M T D 0.665 T T D 0.662 0.554 0.562 1.575 T T D D D D 4.048 27.300 0.999 D . . . . . 1.000 . . . . . 5.270 5.270 9.509 1.176 0.676 1.000 1.000 0.999 478 SLED_domain . . . SCML2 54 0 46 3 0.0612244897959184 TRUE NA +ENSG00000124313.16 . BCM GRCh38.p13 chrX 53320480 53320480 + G G A Missense_Mutation SNP ENST00000642864.1 exon1 c.C644T p.P215L exonic ENSG00000124313.16 . nonsynonymous SNV ENSG00000124313.16:ENST00000642864.1:exon1:c.C644T:p.P215L Xp11.22 C3L-01557 . . . . . . . . . 5.17 D T . . N D N T N 0.231 T T D 0.060 0.205 0.208 1.119 D T T T T D 2.627 22.700 0.995 N . . . . . 0.989 . . . . . 3.110 3.110 3.008 1.176 0.618 1.000 0.997 0.990 452 . . . . IQSEC2 219 0 158 17 0.0971428571428571 TRUE TRUE +ENSG00000102241.12 . BCM GRCh38.p13 chrX 136499728 136499728 + C C A Missense_Mutation SNP ENST00000218364.5 exon2 c.C317A p.P106Q exonic ENSG00000102241.12 . nonsynonymous SNV ENSG00000102241.12:ENST00000218364.5:exon2:c.C317A:p.P106Q Xq26.3 C3L-01557 1.168e-05 0 0 0 0 0 0 0.0001 rs747916677 3.19 D T B B N N M T N 0.076 T T D 0.074 0.101 0.337 0.649 T T T T T T 1.395 15.050 0.750 N . . . . . 1.000 . . . . . 5.630 5.630 1.210 1.026 0.595 0.052 0.012 0.065 681 . . . . HTATSF1 56 0 56 3 0.0508474576271186 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146512 10146512 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon2:c.341-2A>G . . 3p25.3 C3L-01557 . . . . . . . . rs869025637 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.183 33 0.991 D . 0.928 11.797 0.720 8.135 1.000 0.164 0.194 0.232 0.082 0.954 4.980 4.980 7.167 1.312 0.756 1.000 0.994 0.972 370 . . . ID=COSV56544966;OCCURENCE=10(kidney) VHL 391 0 187 81 0.302238805970149 TRUE TRUE +ENSG00000104728.16 . BCM GRCh38.p13 chr8 1885600 1885600 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000104728.16;ENSG00000283239.1 ENST00000398564.5:exon11:c.1151-1G>T;ENST00000635855.1:exon12:c.1669-1G>T;ENST00000635855.1:exon12:UTR3 . . 8p23.3 C3L-01557 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.277 33 0.992 D . 1.019 14.520 0.813 10.531 1.000 0.106 0.085 0.126 0.118 0.970 5.120 5.120 7.996 1.075 0.676 1.000 0.243 0.127 946 . . . . ARHGEF10 287 9 188 21 0.100478468899522 TRUE NA +ENSG00000157388.19 . BCM GRCh38.p13 chr3 53811175 53811175 + A A G Silent SNP ENST00000350061.11 exon48 c.A6255G p.K2085K exonic ENSG00000157388.19 . synonymous SNV ENSG00000157388.19:ENST00000350061.11:exon48:c.A6255G:p.K2085K 3p21.1 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1D 208 0 93 51 0.354166666666667 TRUE TRUE +ENSG00000151623.15 . BCM GRCh38.p13 chr4 148194819 148194819 + A A G Silent SNP ENST00000358102.8 exon4 c.T1941C p.I647I exonic ENSG00000151623.15 . synonymous SNV ENSG00000151623.15:ENST00000358102.8:exon4:c.T1941C:p.I647I 4q31.23 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NR3C2 190 0 164 60 0.267857142857143 TRUE TRUE +ENSG00000120251.20 . BCM GRCh38.p13 chr4 157312779 157312779 + G G A Silent SNP ENST00000264426.13 exon4 c.G570A p.E190E exonic ENSG00000120251.20 . synonymous SNV ENSG00000120251.20:ENST00000264426.13:exon4:c.G570A:p.E190E 4q32.1 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIA2 129 0 113 6 0.0504201680672269 NA TRUE +ENSG00000053108.17 . BCM GRCh38.p13 chr5 133603924 133603924 + C C T Silent SNP ENST00000265342.12 exon2 c.G60A p.A20A exonic ENSG00000053108.17 . synonymous SNV ENSG00000053108.17:ENST00000265342.12:exon2:c.G60A:p.A20A 5q31.1 C3L-01557 2.477e-05 0 0 0.0003 0 0 0 0 rs760231160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54765038;OCCURENCE=1(breast),1(large_intestine) FSTL4 199 0 284 73 0.204481792717087 TRUE TRUE +ENSG00000005108.16 . BCM GRCh38.p13 chr7 11541554 11541554 + G G A Silent SNP ENST00000423059.9 exon6 c.C1687T p.L563L exonic ENSG00000005108.16 . synonymous SNV ENSG00000005108.16:ENST00000423059.9:exon6:c.C1687T:p.L563L 7p21.3 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THSD7A 212 1 162 68 0.295652173913043 TRUE TRUE +ENSG00000077498.9 . BCM GRCh38.p13 chr11 89178418 89178418 + C C T Silent SNP ENST00000263321.6 exon1 c.C465T p.T155T exonic ENSG00000077498.9 . synonymous SNV ENSG00000077498.9:ENST00000263321.6:exon1:c.C465T:p.T155T 11q14.3 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TYR 420 0 375 153 0.289772727272727 TRUE TRUE +ENSG00000140525.18 . BCM GRCh38.p13 chr15 89305370 89305370 + T T C Silent SNP ENST00000310775.12 exon30 c.T3216C p.F1072F exonic ENSG00000140525.18 . synonymous SNV ENSG00000140525.18:ENST00000310775.12:exon30:c.T3216C:p.F1072F 15q26.1 C3L-01557 . . . . . . . . rs1001373376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FANCI 660 0 453 162 0.263414634146341 TRUE NA +ENSG00000235419.5 . BCM GRCh38.p13 chr2 230540985 230540985 + G G C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000235419.5 . . . 2q37.1 C3L-01557 . . . . . . . . . 1.17 T T D P . N . T N 0.209 T T T 0.059 0.348 0.241 0.399 T . T T T T 1.194 13.590 0.931 N N -0.509 1.158 -0.587 1.066 0.023 0.722 0.699 0.574 0.613 . 4.310 1.350 0.072 -0.125 -0.710 0.068 0.542 0.827 862 . . . . AC010149.1 80 0 70 27 0.278350515463918 TRUE TRUE +ENSG00000166925.9 . BCM GRCh38.p13 chr7 100468068 100468068 + G G C Intron SNP NA NA NA NA intronic ENSG00000166925.9 . . . 7q22.1 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSC22D4 43 0 66 9 0.12 TRUE TRUE +ENSG00000159899.14 . BCM GRCh38.p13 chr9 35808278 35808278 + G G A Intron SNP NA NA NA NA intronic ENSG00000159899.14 . . . 9p13.3 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52413685;OCCURENCE=1(oesophagus),1(stomach) NPR2 206 1 196 20 0.0925925925925926 TRUE TRUE +ENSG00000050405.13 . BCM GRCh38.p13 chr12 50185445 50185445 + G G C Intron SNP NA NA NA NA intronic ENSG00000050405.13 . . . 12q13.12 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIMA1 240 0 250 14 0.053030303030303 TRUE NA +ENSG00000067715.14 . BCM GRCh38.p13 chr12 79291829 79291829 + G G A Intron SNP NA NA NA NA intronic ENSG00000067715.14 . . . 12q21.2 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54047074;OCCURENCE=1(large_intestine) SYT1 116 0 99 29 0.2265625 TRUE NA +ENSG00000135100.18 . BCM GRCh38.p13 chr12 120997763 120997763 + A A T Intron SNP NA NA NA NA intronic ENSG00000135100.18 . . . 12q24.31 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HNF1A 244 0 192 67 0.258687258687259 TRUE TRUE +ENSG00000229807.12 . BCM GRCh38.p13 chrX 73842420 73842420 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229807.12 . . . Xq13.2 C3L-01557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIST 186 0 88 91 0.508379888268156 TRUE NA +ENSG00000120952.4 . BCM GRCh38.p13 chr1 12859985 12859985 + T T - Frame_Shift_Del DEL ENST00000240189.2 exon3 c.580delT p.Y194Ifs*6 exonic ENSG00000120952.4 . frameshift deletion ENSG00000120952.4:ENST00000240189.2:exon3:c.580delT:p.Y194Ifs*6 1p36.21 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRAMEF2 211 0 159 42 0.208955223880597 NA TRUE +ENSG00000133216.16 . BCM GRCh38.p13 chr1 22909025 22909025 + G G A Missense_Mutation SNP ENST00000400191.7 exon13 c.G2356A p.G786R exonic ENSG00000133216.16 . nonsynonymous SNV ENSG00000133216.16:ENST00000400191.7:exon13:c.G2356A:p.G786R 1p36.12 C3L-01560 8.261e-06 0 8.673e-05 0 0 0 0 0 rs138551214 16.20 D D D D D D L T D 0.989 T T D 0.617 . 0.939 1.650 D D D D D D 4.105 27.800 0.999 D D 0.646 6.423 0.619 6.464 1.000 0.706 0.547 0.710 0.714 . 4.930 4.930 10.002 1.171 0.671 1.000 0.844 0.070 800 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . EPHB2 364 1 332 72 0.178217821782178 TRUE NA +ENSG00000187801.15 . BCM GRCh38.p13 chr1 40462691 40462691 + C C T Missense_Mutation SNP ENST00000361584.5 exon5 c.C707T p.S236L exonic ENSG00000187801.15 . nonsynonymous SNV ENSG00000187801.15:ENST00000361584.5:exon5:c.C707T:p.S236L 1p34.2 C3L-01560 . . . . . . . . . 4.19 D T D P . N L T D 0.144 T T T 0.078 0.363 0.230 0.084 T T T T D T 2.433 22.200 0.989 N N -0.499 1.179 -0.649 0.974 0.018 0.566 0.654 0.609 0.674 . 3.320 2.410 0.244 -0.230 -0.242 0.000 0.008 0.033 608 . . . . ZFP69B 195 0 86 6 0.0652173913043478 TRUE TRUE +ENSG00000064886.14 . BCM GRCh38.p13 chr1 111235652 111235652 + C C T Missense_Mutation SNP ENST00000369748.9 exon6 c.C494T p.A165V exonic ENSG00000064886.14 . nonsynonymous SNV ENSG00000064886.14:ENST00000369748.9:exon6:c.C494T:p.A165V 1p13.2 C3L-01560 . . . . . . . . . 10.20 D D D D D D M T D 0.258 T T T 0.149 0.781 0.508 0.021 T T T T D T 3.480 24.600 0.999 D N 0.384 4.245 0.270 3.545 1.000 0.635 0.644 0.547 0.542 . 3.300 2.350 3.183 0.800 0.599 0.995 0.999 0.986 818 Chitinase_II;Glycoside_hydrolase_family_18,_catalytic_domain . . . CHI3L2 120 0 88 34 0.278688524590164 TRUE TRUE +ENSG00000131778.19 . BCM GRCh38.p13 chr1 147252699 147252712 + CCTGGGAGATGAGA CCTGGGAGATGAGA - Frame_Shift_Del DEL ENST00000369258.8 exon2 c.204_217del p.L69Gfs*21 exonic ENSG00000131778.19 . frameshift deletion ENSG00000131778.19:ENST00000369258.8:exon2:c.204_217del:p.L69Gfs*21 1q21.1 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD1L 170 0 132 15 0.102040816326531 TRUE TRUE +ENSG00000116679.16 . BCM GRCh38.p13 chr1 185309117 185309117 + T T C Missense_Mutation SNP ENST00000367498.8 exon4 c.A167G p.Y56C exonic ENSG00000116679.16 . nonsynonymous SNV ENSG00000116679.16:ENST00000367498.8:exon4:c.A167G:p.Y56C 1q25.3 C3L-01560 . . . . . . . . . 19.20 D D D D D D H T D 0.924 D D D 0.754 0.799 0.789 1.541 D D D D D D 4.084 27.600 0.998 D D 0.881 10.564 0.816 10.605 1.000 0.732 0.744 0.702 0.714 . 5.670 5.670 6.025 1.138 0.609 1.000 1.000 1.000 607 BTB/POZ_domain . . . IVNS1ABP 87 0 47 14 0.229508196721311 TRUE TRUE +ENSG00000168883.20 . BCM GRCh38.p13 chr2 85623766 85623766 + C C T Missense_Mutation SNP ENST00000323701.11 exon4 c.C554T p.S185L exonic ENSG00000168883.20 . nonsynonymous SNV ENSG00000168883.20:ENST00000323701.11:exon4:c.C554T:p.S185L 2p11.2 C3L-01560 . . . . . . . . . 16.20 D D D D D D M T D 0.736 T T D 0.501 0.452 0.873 1.971 D T D D D D 4.245 29.100 0.999 D D 0.894 10.907 0.851 11.824 1.000 0.719 0.723 0.725 0.711 . 5.540 5.540 7.366 1.026 0.549 1.000 0.492 0.973 598 Zinc_finger,_UBP-type . . . USP39 118 0 99 24 0.195121951219512 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146534 10146534 + G G T Missense_Mutation SNP ENST00000256474.3 exon2 c.G361T p.D121Y exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.G361T:p.D121Y 3p25.3 C3L-01560 . . . . . . . . . 19.19 . D D D D D M D D 0.880 D D D 0.934 0.854 0.995 1.196 D D D D D D 4.491 32 0.994 D D 0.722 7.440 0.645 6.840 1.000 0.732 0.686 0.744 0.735 . 5.070 5.070 7.673 1.176 0.676 1.000 1.000 0.993 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56542752;OCCURENCE=13(kidney) VHL 409 0 212 121 0.363363363363363 TRUE TRUE +ENSG00000168026.18 . BCM GRCh38.p13 chr3 39136422 39136422 + C C A Missense_Mutation SNP ENST00000431162.6 exon23 c.C3031A p.P1011T exonic ENSG00000168026.18 . nonsynonymous SNV ENSG00000168026.18:ENST00000431162.6:exon23:c.C3031A:p.P1011T 3p22.2 C3L-01560 . . . . . . . . rs1035848593 6.20 T T B B N D M T D 0.367 T T T 0.145 0.348 0.477 0.222 T T T T D D 2.147 20.500 0.969 D N -0.195 1.892 -0.135 1.951 1.000 0.581 0.588 0.602 0.622 . 4.790 4.790 2.552 1.026 0.599 0.985 0.935 0.944 365 Tetratricopeptide_repeat-containing_domain . . . TTC21A 157 0 99 12 0.108108108108108 TRUE NA +ENSG00000113790.11 . BCM GRCh38.p13 chr3 185193172 185193172 + T T C Missense_Mutation SNP ENST00000231887.8 exon7 c.A1226G p.N409S exonic ENSG00000113790.11 . nonsynonymous SNV ENSG00000113790.11:ENST00000231887.8:exon7:c.A1226G:p.N409S 3q27.2 C3L-01560 . . . . . . . . . 17.20 D D D D D D M T D 0.519 D D D 0.802 0.894 0.661 0.327 T D D T D D 3.406 24.400 0.999 D D 0.736 7.651 0.678 7.354 0.984 0.638 0.670 0.659 0.668 . 6.080 4.920 5.841 1.138 0.609 1.000 0.999 0.949 670 3-hydroxyacyl-CoA_dehydrogenase,_NAD_binding . . . EHHADH 71 0 60 13 0.178082191780822 TRUE TRUE +ENSG00000178163.8 . BCM GRCh38.p13 chr4 10445671 10445671 + G G A Missense_Mutation SNP ENST00000326756.4 exon3 c.C658T p.R220W exonic ENSG00000178163.8 . nonsynonymous SNV ENSG00000178163.8:ENST00000326756.4:exon3:c.C658T:p.R220W 4p16.1 C3L-01560 0.0001 0 0 0 0.0002 1.499e-05 0 0.0009 rs755440792 7.20 D D D D D N M T D 0.402 T T T 0.120 . 0.043 0.016 T T T T T T 2.917 23.200 0.999 N N -0.181 1.932 -0.326 1.512 0.231 0.672 0.654 0.609 0.711 . 6.170 2.350 1.580 1.176 0.676 0.027 0.077 0.823 576 . . . ID=COSV58725159;OCCURENCE=1(large_intestine) ZNF518B 93 0 137 10 0.0680272108843537 TRUE TRUE +ENSG00000138688.15 . BCM GRCh38.p13 chr4 122313657 122313657 + T T C Missense_Mutation SNP ENST00000264501.8 exon60 c.T10282C p.C3428R exonic ENSG00000138688.15 . nonsynonymous SNV ENSG00000138688.15:ENST00000264501.8:exon60:c.T10282C:p.C3428R 4q27 C3L-01560 . . . . . . . . . 15.20 D D D D U D M T D 0.991 T T D 0.732 0.721 0.397 2.192 D T D D D D 4.202 28.700 0.996 D D 0.419 4.463 0.488 5.055 1.000 0.732 0.634 0.710 0.728 . 5.480 5.480 7.341 1.138 0.609 1.000 1.000 0.999 877 . . . . KIAA1109 157 0 103 14 0.11965811965812 TRUE TRUE +ENSG00000151883.19 . BCM GRCh38.p13 chr5 50795031 50795031 + C C - Frame_Shift_Del DEL ENST00000281631.10 exon12 c.1042delC p.R349Gfs*6 exonic ENSG00000151883.19 . frameshift deletion ENSG00000151883.19:ENST00000281631.10:exon12:c.1042delC:p.R349Gfs*6 5q11.1 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PARP8 312 0 208 53 0.203065134099617 TRUE TRUE +ENSG00000134061.5 . BCM GRCh38.p13 chr5 67184401 67184401 + G G T Missense_Mutation SNP ENST00000256447.5 exon3 c.C442A p.L148M exonic ENSG00000134061.5 . nonsynonymous SNV ENSG00000134061.5:ENST00000256447.5:exon3:c.C442A:p.L148M 5q12.3 C3L-01560 . . . . . . . . . 13.20 D D D D N D M D N 0.421 D D D 0.488 0.512 0.934 0.364 T T D T D T 3.135 23.700 0.997 D N 0.707 7.221 0.669 7.210 1.000 0.648 0.693 0.547 0.613 . 5.920 4.880 2.298 1.176 0.676 1.000 0.965 0.966 955 . . . . CD180 128 0 116 24 0.171428571428571 TRUE TRUE +ENSG00000079841.18 . BCM GRCh38.p13 chr6 72237853 72237853 + C C T Nonsense_Mutation SNP ENST00000521978.5 exon9 c.C1888T p.R630X exonic ENSG00000079841.18 . stopgain ENSG00000079841.18:ENST00000521978.5:exon9:c.C1888T:p.R630X 6q13 C3L-01560 . . . . . . . . . 6.7 . . . . D A . . . 0.987 . . . . . . . . . D D D . 7.465 38 0.998 D N 1.008 14.162 0.843 11.537 0.787 0.638 0.588 0.653 0.564 . 4.940 4.940 3.950 0.125 0.549 1.000 0.995 0.998 892 PDZ_domain . . ID=COSV99324541;OCCURENCE=1(large_intestine) RIMS1 204 0 122 8 0.0615384615384615 TRUE TRUE +ENSG00000225968.7 . BCM GRCh38.p13 chr7 1745998 1745998 + G G A Missense_Mutation SNP ENST00000424383.4 exon3 c.G1402A p.E468K exonic ENSG00000225968.7 . nonsynonymous SNV ENSG00000225968.7:ENST00000424383.4:exon3:c.G1402A:p.E468K 7p22.3 C3L-01560 . . . . . . . . . 13.16 D D D D . D M T N 0.689 . . D . . 0.723 0.919 D T D D . D 4.143 28.100 0.999 D D . . . . 1.000 0.581 0.547 0.576 0.563 . 4.580 4.580 9.621 1.097 0.586 1.000 0.999 0.938 963 . . . . ELFN1 94 0 64 16 0.2 TRUE TRUE +ENSG00000087077.14 . BCM GRCh38.p13 chr7 100868183 100868183 + G G T Missense_Mutation SNP ENST00000200457.9 exon3 c.G313T p.A105S exonic ENSG00000087077.14 . nonsynonymous SNV ENSG00000087077.14:ENST00000200457.9:exon3:c.G313T:p.A105S 7q22.1 C3L-01560 . . . . . . . . . 8.20 D T D D N D L T N 0.484 T T D 0.166 0.133 0.639 0.755 T T T T D T 3.463 24.600 0.985 D D 0.294 3.750 0.194 3.154 1.000 0.628 0.522 0.504 0.658 . 4.530 3.610 4.193 1.176 0.676 1.000 0.495 0.277 705 . . . . TRIP6 87 0 49 18 0.26865671641791 TRUE TRUE +ENSG00000186918.14 . BCM GRCh38.p13 chr8 28348720 28348720 + C C A Nonstop_Mutation SNP ENST00000344423.10 exon10 c.G1541T p.X514L exonic ENSG00000186918.14 . stoploss ENSG00000186918.14:ENST00000344423.10:exon10:c.G1541T:p.X514L 8p21.1 C3L-01560 . . . . . . . . . 1.4 . . . . . N . . . 0.029 . . . . . . . . . T T . . 1.682 16.900 0.859 D . 0.970 13.018 0.789 9.815 1.000 0.154 0.098 0.361 0.235 0.973 5.070 5.070 2.035 1.026 0.599 1.000 0.905 0.684 836 . . . . ZNF395 429 2 272 87 0.242339832869081 TRUE TRUE +ENSG00000147570.10 . BCM GRCh38.p13 chr8 66076743 66076743 + A A G Missense_Mutation SNP ENST00000276570.10 exon4 c.A203G p.H68R exonic ENSG00000147570.10 . nonsynonymous SNV ENSG00000147570.10:ENST00000276570.10:exon4:c.A203G:p.H68R 8q13.1 C3L-01560 . . . . . . . . . 9.20 D D D P D D L T D 0.913 T T T 0.426 0.882 0.631 0.597 T T T T D T 3.146 23.700 0.998 D D 0.590 5.822 0.625 6.545 1.000 0.638 0.670 0.547 0.542 . 5.730 5.730 9.325 1.312 0.754 1.000 0.924 0.339 896 DnaJ_domain;DnaJ_domain,_conserved_site . . . DNAJC5B 558 0 381 108 0.220858895705521 TRUE TRUE +ENSG00000148634.15 . BCM GRCh38.p13 chr10 67955129 67955129 + A A T Missense_Mutation SNP ENST00000395198.7 exon19 c.T2051A p.M684K exonic ENSG00000148634.15 . nonsynonymous SNV ENSG00000148634.15:ENST00000395198.7:exon19:c.T2051A:p.M684K 10q21.3 C3L-01560 . . . . . . . . . 9.20 T T P B D D M T N 0.754 T T T 0.466 0.525 0.616 1.167 T T D D D D 3.139 23.700 0.928 D D -0.029 2.409 0.163 3.008 1.000 0.706 0.725 0.710 0.714 . 5.070 5.070 9.121 1.312 0.756 1.000 1.000 0.994 891 . . . . HERC4 259 0 64 5 0.072463768115942 NA TRUE +ENSG00000184956.16 . BCM GRCh38.p13 chr11 1025338 1025338 + G G T Missense_Mutation SNP ENST00000421673.7 exon23 c.C2829A p.N943K exonic ENSG00000184956.16 . nonsynonymous SNV ENSG00000184956.16:ENST00000421673.7:exon23:c.C2829A:p.N943K 11p15.5 C3L-01560 . . . . . . . . . 4.19 T T D P U N N T D 0.305 T T D 0.255 0.695 0.480 0.102 T T T T T . 2.662 22.800 0.698 D N -0.436 1.307 -0.517 1.174 0.308 0.403 0.514 0.578 0.563 . 4.380 0.907 2.155 1.172 0.672 1.000 0.225 0.225 825 von_Willebrand_factor,_type_D_domain . . . MUC6 103 0 90 27 0.230769230769231 TRUE NA +ENSG00000165915.14 . BCM GRCh38.p13 chr11 47413482 47413482 + T T A Missense_Mutation SNP ENST00000362021.9 exon5 c.T620A p.L207H exonic ENSG00000165915.14 . nonsynonymous SNV ENSG00000165915.14:ENST00000362021.9:exon5:c.T620A:p.L207H 11p11.2 C3L-01560 . . . . . . . . . 4.20 T T D D U N N T N 0.430 T T D 0.052 0.370 0.448 1.104 T T T T T T 2.329 21.700 0.933 D N -0.254 1.729 -0.171 1.858 1.000 0.732 0.644 0.744 0.711 . 5.280 2.930 1.217 1.138 0.665 0.999 0.681 0.939 26 . . . . SLC39A13 487 0 368 94 0.203463203463203 TRUE TRUE +ENSG00000165323.15 . BCM GRCh38.p13 chr11 92798216 92798216 + T T A Missense_Mutation SNP ENST00000409404.6 exon9 c.T5203A p.S1735T exonic ENSG00000165323.15 . nonsynonymous SNV ENSG00000165323.15:ENST00000409404.6:exon9:c.T5203A:p.S1735T 11q14.3 C3L-01560 . . . . . . . . . 0.15 T . . . . N L T N 0.195 T T T 0.026 0.448 0.456 . T T T T T . 1.375 14.910 0.911 N N -0.368 1.453 -0.242 1.688 0.014 0.615 0.574 0.659 0.564 . 5.930 3.500 0.956 1.138 0.609 0.492 0.517 0.567 906 Cadherin-like . . . FAT3 119 0 116 32 0.216216216216216 TRUE TRUE +ENSG00000197125.3 . BCM GRCh38.p13 chr11 124440678 124440678 + C C A Missense_Mutation SNP ENST00000642064.1 exon3 c.G408T p.M136I exonic ENSG00000197125.3 . nonsynonymous SNV ENSG00000197125.3:ENST00000642064.1:exon3:c.G408T:p.M136I 11q24.2 C3L-01560 . . . . . . . . . 8.20 D D B B N D M T D 0.282 T T T 0.109 0.405 0.192 0.017 T T T T D D 1.672 16.840 0.985 D N -0.407 1.368 -0.403 1.366 1.000 0.487 0.563 0.574 0.542 . 3.520 2.600 0.706 1.026 0.599 0.276 0.967 0.862 769 GPCR,_rhodopsin-like,_7TM . . . OR8B8 176 0 179 43 0.193693693693694 TRUE TRUE +ENSG00000173157.17 . BCM GRCh38.p13 chr12 43466679 43466679 + C C G Missense_Mutation SNP ENST00000389420.8 exon9 c.G1340C p.S447T exonic ENSG00000173157.17 . nonsynonymous SNV ENSG00000173157.17:ENST00000389420.8:exon9:c.G1340C:p.S447T 12q12 C3L-01560 . . . . . . . . . 16.17 D D . . D D M D D 0.906 D D D 0.862 0.801 0.979 0.221 T . D D D D 3.126 23.700 0.997 D D 0.874 10.388 0.774 9.403 1.000 0.638 0.574 0.653 0.542 . 4.790 4.790 7.514 1.026 0.549 1.000 0.998 0.961 841 Peptidase_M12B,_ADAM/reprolysin . . . ADAMTS20 247 0 98 21 0.176470588235294 TRUE TRUE +ENSG00000111445.14 . BCM GRCh38.p13 chr12 118025806 118025806 + G G A Missense_Mutation SNP ENST00000454402.7 exon7 c.G641A p.R214H exonic ENSG00000111445.14 . nonsynonymous SNV ENSG00000111445.14:ENST00000454402.7:exon7:c.G641A:p.R214H 12q24.23 C3L-01560 . . . . . . . . . 19.20 D D D D D D H T D 0.972 D D D 0.767 . 0.939 1.341 D D D D D D 4.509 32 0.999 D D 1.166 21.056 1.071 24.133 1.000 0.707 0.725 0.702 0.714 . 5.700 5.700 9.994 1.176 0.676 1.000 0.981 0.993 950 . . . . RFC5 152 0 131 35 0.210843373493976 TRUE TRUE +ENSG00000136367.14 . BCM GRCh38.p13 chr14 23525681 23525681 + - NA A Nonsense_Mutation SNP ENST00000419474.5 exon9 c.4260dupT p.E1421* exonic ENSG00000136367.14 . stopgain ENSG00000136367.14:ENST00000419474.5:exon9:c.4260dupT:p.E1421* 14q11.2 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFHX2 NA NA NA NA NA NA NA +ENSG00000159433.12 . BCM GRCh38.p13 chr15 42669171 42669171 + C C T Missense_Mutation SNP ENST00000290607.12 exon16 c.C1331T p.T444I exonic ENSG00000159433.12 . nonsynonymous SNV ENSG00000159433.12:ENST00000290607.12:exon16:c.C1331T:p.T444I 15q15.2 C3L-01560 . . . . . . . . . 11.17 D D . . . D M T D 0.374 D D D 0.413 0.366 0.639 . T T T T D T 3.590 25.000 0.998 D D 0.661 6.608 0.701 7.767 1.000 0.615 0.654 0.659 0.492 . 5.720 5.720 7.376 1.026 0.599 1.000 0.984 0.987 93 . . . . STARD9 86 0 68 18 0.209302325581395 TRUE TRUE +ENSG00000205363.5 . BCM GRCh38.p13 chr15 73740261 73740261 + G G A Missense_Mutation SNP ENST00000569673.2 exon3 c.C538T p.P180S exonic ENSG00000205363.5 . nonsynonymous SNV ENSG00000205363.5:ENST00000569673.2:exon3:c.C538T:p.P180S 15q24.1 C3L-01560 . . . . . . . . . 5.18 D T B B N D . T N 0.118 T T T 0.021 0.190 0.209 0.581 . T T T D D 2.016 19.370 0.999 D N -0.056 2.316 0.120 2.819 0.997 0.706 0.590 0.710 0.542 . 5.150 5.150 2.271 1.176 0.676 1.000 0.999 0.997 731 . . . . INSYN1 147 0 123 23 0.157534246575342 TRUE TRUE +ENSG00000130182.8 . BCM GRCh38.p13 chr16 3092745 3092745 + G G A Missense_Mutation SNP ENST00000252463.6 exon1 c.C28T p.L10F exonic ENSG00000130182.8 . nonsynonymous SNV ENSG00000130182.8:ENST00000252463.6:exon1:c.C28T:p.L10F 16p13.3 C3L-01560 1.177e-05 0 0 0 0 2.15e-05 0 0 rs111927493 8.19 D D P P D N . T N 0.596 T T D 0.208 0.892 0.346 0.176 T T T T D D 3.287 24.100 0.997 D D 0.163 3.144 0.046 2.525 0.993 0.672 0.547 0.702 0.613 . 5.390 3.430 2.468 1.172 0.614 0.066 0.992 0.958 774 SCAN_domain . . . ZSCAN10 123 0 89 47 0.345588235294118 TRUE NA +ENSG00000157368.10 . BCM GRCh38.p13 chr16 70646957 70646957 + G G T Missense_Mutation SNP ENST00000429149.6 exon2 c.G10T p.G4C exonic ENSG00000157368.10 . nonsynonymous SNV ENSG00000157368.10:ENST00000429149.6:exon2:c.G10T:p.G4C 16q22.1 C3L-01560 . . . . . . . . . 11.20 D D D D N D L T D 0.449 T T T 0.232 0.470 0.515 0.064 T T D D D T 3.825 26.000 0.996 D D 0.706 7.199 0.682 7.426 1.000 0.696 0.574 0.723 0.613 . 5.380 5.380 3.060 1.172 0.671 1.000 0.994 0.992 266 . . . . IL34 73 0 19 7 0.269230769230769 TRUE TRUE +ENSG00000157423.18 . BCM GRCh38.p13 chr16 70952627 70952627 + C C T Missense_Mutation SNP ENST00000393567.7 exon41 c.G6325A p.A2109T exonic ENSG00000157423.18 . nonsynonymous SNV ENSG00000157423.18:ENST00000393567.7:exon41:c.G6325A:p.A2109T 16q22.2 C3L-01560 . . . . . . . . . 0.16 T . . . N N N T N 0.070 T T T 0.005 0.208 0.048 . T T T T T . -0.436 0.162 0.432 N N -1.457 0.095 -1.580 0.081 1.000 0.570 0.563 0.658 0.613 . 3.910 -7.810 -1.527 -1.667 -0.341 0.000 0.003 0.065 572 Hydin_adenylate_kinase-like_domain . . . HYDIN 116 0 82 25 0.233644859813084 NA TRUE +ENSG00000133026.13 . BCM GRCh38.p13 chr17 8480154 8480154 + C C A Missense_Mutation SNP ENST00000269243.8 exon38 c.G5460T p.E1820D exonic ENSG00000133026.13 . nonsynonymous SNV ENSG00000133026.13:ENST00000269243.8:exon38:c.G5460T:p.E1820D 17p13.1 C3L-01560 . . . . . . . . . 17.20 D D D D D D H D D 0.794 D D D 0.675 0.576 0.846 1.168 T D D T D D 2.662 22.800 0.999 D N 0.187 3.245 0.063 2.589 1.000 0.707 0.644 0.702 0.714 . 5.100 0.414 0.032 -0.186 -0.181 0.921 0.998 0.993 369 Myosin_tail . . . MYH10 244 0 179 37 0.171296296296296 TRUE TRUE +ENSG00000131242.18 . BCM GRCh38.p13 chr17 31525119 31525119 + A A C Missense_Mutation SNP ENST00000621161.5 exon10 c.A1163C p.D388A exonic ENSG00000131242.18 . nonsynonymous SNV ENSG00000131242.18:ENST00000621161.5:exon10:c.A1163C:p.D388A 17q11.2 C3L-01560 . . . . . . . . . 14.20 D T D D D D M T D 0.793 T T D 0.369 0.040 0.293 . T T D D D D 4.452 32 0.946 D D 0.812 9.026 0.819 10.723 1.000 0.713 0.702 0.636 0.613 . 6.080 6.080 8.971 1.312 0.756 1.000 0.998 0.971 900 . . . . RAB11FIP4 327 0 221 66 0.229965156794425 TRUE TRUE +ENSG00000033627.16 . BCM GRCh38.p13 chr17 42487351 42487351 + C C T Missense_Mutation SNP ENST00000343619.8 exon10 c.C1007T p.A336V exonic ENSG00000033627.16 . nonsynonymous SNV ENSG00000033627.16:ENST00000343619.8:exon10:c.C1007T:p.A336V 17q21.2 C3L-01560 . . . . . . . . . 20.20 D D D D D D M D D 0.666 D D D 0.778 0.721 0.222 1.977 D D D D D D 4.135 28.100 0.999 D D 0.752 7.907 0.772 9.333 1.000 0.707 0.725 0.725 0.714 . 5.650 5.650 7.896 1.023 0.599 1.000 1.000 0.999 161 . . . . ATP6V0A1 253 0 341 21 0.0580110497237569 TRUE TRUE +ENSG00000108883.13 . BCM GRCh38.p13 chr17 44854659 44854659 + T T A Missense_Mutation SNP ENST00000426333.7 exon22 c.A2156T p.Q719L exonic ENSG00000108883.13 . nonsynonymous SNV ENSG00000108883.13:ENST00000426333.7:exon22:c.A2156T:p.Q719L 17q21.31 C3L-01560 . . . . . . . . . 12.20 D T P P D D M T D 0.728 T T D 0.357 0.316 0.303 2.263 D T D T D D 3.788 25.800 0.994 D D 0.842 9.657 0.783 9.631 1.000 0.707 0.725 0.702 0.714 . 5.140 5.140 7.796 1.138 0.665 1.000 1.000 1.000 484 Translation_elongation_factor_EFG/EF2,_domain_IV . . . EFTUD2 119 0 82 24 0.226415094339623 TRUE TRUE +ENSG00000065000.19 . BCM GRCh38.p13 chr19 2108761 2108761 + C C T Missense_Mutation SNP ENST00000345016.9 exon29 c.G3292A p.E1098K exonic ENSG00000065000.19 . nonsynonymous SNV ENSG00000065000.19:ENST00000345016.9:exon29:c.G3292A:p.E1098K 19p13.3 C3L-01560 . . . . . . . . . 11.20 T T D D D D M T N 0.954 T T D 0.326 0.733 0.594 0.109 T T D T D D 3.738 25.600 0.998 D D 0.657 6.556 0.614 6.409 1.000 0.707 0.702 0.702 0.714 . 4.290 4.290 7.518 0.936 0.587 1.000 0.999 0.985 952 . . . . AP3D1 125 0 116 29 0.2 TRUE TRUE +ENSG00000127666.9 . BCM GRCh38.p13 chr19 4817812 4817812 + C C G Missense_Mutation SNP ENST00000248244.5 exon2 c.G566C p.S189T exonic ENSG00000127666.9 . nonsynonymous SNV ENSG00000127666.9:ENST00000248244.5:exon2:c.G566C:p.S189T 19p13.3 C3L-01560 5.152e-05 0 0 0 0 4.621e-05 0.0023 7.244e-05 rs747441149 5.20 D T D D N N M T N 0.541 T T D 0.172 . 0.276 0.784 T T T T T T 3.136 23.700 0.995 N N 0.266 3.610 0.160 2.995 0.078 0.632 0.698 0.576 0.636 . 4.660 4.660 0.525 1.022 0.545 0.878 0.185 0.058 934 . . . . TICAM1 83 0 97 7 0.0673076923076923 TRUE NA +ENSG00000090659.18 . BCM GRCh38.p13 chr19 7743059 7743059 + G G T Missense_Mutation SNP ENST00000315599.12 exon7 c.C1195A p.P399T exonic ENSG00000090659.18 . nonsynonymous SNV ENSG00000090659.18:ENST00000315599.12:exon7:c.C1195A:p.P399T 19p13.2 C3L-01560 1.649e-05 0 0 0 0 2.999e-05 0 0 rs752457226 2.19 D D P P . N L T N 0.161 T T T 0.053 0.362 0.118 0.060 T T T T T T -0.229 0.443 0.351 N N -1.021 0.382 -1.140 0.336 0.021 0.497 0.480 0.547 0.542 . 3.270 1.110 -0.334 0.174 -0.220 0.000 0.001 0.000 940 . . . ID=COSV52657534;OCCURENCE=1(liver) CD209 160 0 145 39 0.21195652173913 TRUE TRUE +ENSG00000126001.16 . BCM GRCh38.p13 chr20 35494612 35494612 + A A G Missense_Mutation SNP ENST00000397527.6 exon24 c.A3122G p.Q1041R exonic ENSG00000126001.16 . nonsynonymous SNV ENSG00000126001.16:ENST00000397527.6:exon24:c.A3122G:p.Q1041R 20q11.22 C3L-01560 . . . . . . . . . 5.20 D T B B N N M T D 0.164 T T T 0.037 0.135 0.281 0.152 T T T T D T 1.891 18.420 0.994 D N -0.392 1.401 -0.242 1.688 0.918 0.707 0.702 0.725 0.714 . 4.180 3.080 1.270 1.290 0.731 0.999 0.994 0.997 553 . . . . CEP250 218 0 179 38 0.175115207373272 TRUE TRUE +ENSG00000130830.15 . BCM GRCh38.p13 chrX 154781653 154781653 + C C T Missense_Mutation SNP ENST00000369534.8 exon10 c.G1096A p.V366M exonic ENSG00000130830.15 . nonsynonymous SNV ENSG00000130830.15:ENST00000369534.8:exon10:c.G1096A:p.V366M Xq28 C3L-01560 . . . . . . . . . 11.19 D D D D D D H T N 0.536 T T D 0.365 0.810 0.732 1.041 T T T T D D 3.317 24.200 0.998 D . . . . . 0.996 . . . . . 5.240 2.310 2.982 0.966 0.599 0.996 0.989 0.979 81 Guanylate_kinase-like_domain;Guanylate_kinase/L-type_calcium_channel_beta_subunit . . . MPP1 211 0 196 40 0.169491525423729 TRUE TRUE +ENSG00000181754.7 . BCM GRCh38.p13 chr1 109508570 109508570 + G G A Silent SNP ENST00000369864.5 exon2 c.C343T p.L115L exonic ENSG00000181754.7 . synonymous SNV ENSG00000181754.7:ENST00000369864.5:exon2:c.C343T:p.L115L 1p13.3 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMIGO1 261 0 232 61 0.208191126279863 TRUE TRUE +ENSG00000072163.19 . BCM GRCh38.p13 chr2 127639293 127639293 + G G A Silent SNP ENST00000355119.8 exon10 c.C1014T p.L338L exonic ENSG00000072163.19 . synonymous SNV ENSG00000072163.19:ENST00000355119.8:exon10:c.C1014T:p.L338L 2q14.3 C3L-01560 . . . . . . . . rs879575741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIMS2 121 0 127 11 0.0797101449275362 TRUE NA +ENSG00000054356.14 . BCM GRCh38.p13 chr2 219297927 219297927 + C C T Silent SNP ENST00000295718.7 exon13 c.G1845A p.L615L exonic ENSG00000054356.14 . synonymous SNV ENSG00000054356.14:ENST00000295718.7:exon13:c.G1845A:p.L615L 2q35 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRN 276 0 322 45 0.122615803814714 TRUE TRUE +ENSG00000171044.11 . BCM GRCh38.p13 chr8 10898002 10898002 + G G T Silent SNP ENST00000416569.3 exon3 c.C1876A p.R626R exonic ENSG00000171044.11 . synonymous SNV ENSG00000171044.11:ENST00000416569.3:exon3:c.C1876A:p.R626R 8p23.1 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XKR6 39 0 57 3 0.05 TRUE NA +ENSG00000041982.16 . BCM GRCh38.p13 chr9 115073658 115073658 + C C A Silent SNP ENST00000350763.9 exon10 c.G3159T p.L1053L exonic ENSG00000041982.16 . synonymous SNV ENSG00000041982.16:ENST00000350763.9:exon10:c.G3159T:p.L1053L 9q33.1 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNC 234 0 188 75 0.285171102661597 TRUE TRUE +ENSG00000197748.13 . BCM GRCh38.p13 chr10 104167735 104167735 + A A G Silent SNP ENST00000357060.8 exon22 c.T2694C p.C898C exonic ENSG00000197748.13 . synonymous SNV ENSG00000197748.13:ENST00000357060.8:exon22:c.T2694C:p.C898C 10q25.1 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP43 87 0 69 16 0.188235294117647 TRUE TRUE +ENSG00000140274.14 . BCM GRCh38.p13 chr15 45116164 45116164 + C C T Silent SNP ENST00000323030.6 exon3 c.C246T p.N82N exonic ENSG00000140274.14 . synonymous SNV ENSG00000140274.14:ENST00000323030.6:exon3:c.C246T:p.N82N 15q21.1 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUOXA2 338 0 254 64 0.20125786163522 TRUE TRUE +ENSG00000258484.4 . BCM GRCh38.p13 chr15 68930662 68930662 + C C T Silent SNP ENST00000310673.4 exon1 c.C9T p.P3P exonic ENSG00000258484.4 . synonymous SNV ENSG00000258484.4:ENST00000310673.4:exon1:c.C9T:p.P3P 15q23 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPESP1 240 0 188 42 0.182608695652174 TRUE TRUE +ENSG00000103249.18 . BCM GRCh38.p13 chr16 1474906 1474906 + C C A Silent SNP ENST00000382745.9 exon1 c.G69T p.L23L exonic ENSG00000103249.18 . synonymous SNV ENSG00000103249.18:ENST00000382745.9:exon1:c.G69T:p.L23L 16p13.3 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLCN7 179 0 74 5 0.0632911392405063 NA TRUE +ENSG00000128482.16 . BCM GRCh38.p13 chr17 19414859 19414859 + G G A Silent SNP ENST00000461366.2 exon10 c.G1098A p.R366R exonic ENSG00000128482.16 . synonymous SNV ENSG00000128482.16:ENST00000461366.2:exon10:c.G1098A:p.R366R 17p11.2 C3L-01560 8.324e-06 0 0 0 0 0 0 6.078e-05 rs780912506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF112 154 0 132 42 0.241379310344828 TRUE NA +ENSG00000275832.5 . BCM GRCh38.p13 chr17 38510204 38510204 + G G A Silent SNP ENST00000622683.5 exon24 c.G3708A p.E1236E exonic ENSG00000275832.5 . synonymous SNV ENSG00000275832.5:ENST00000622683.5:exon24:c.G3708A:p.E1236E 17q12 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP23 62 0 51 4 0.0727272727272727 NA TRUE +ENSG00000005884.18 . BCM GRCh38.p13 chr17 50074452 50074452 + C C A Silent SNP ENST00000320031.13 exon10 c.C1387A p.R463R exonic ENSG00000005884.18 . synonymous SNV ENSG00000005884.18:ENST00000320031.13:exon10:c.C1387A:p.R463R 17q21.33 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA3 149 0 109 31 0.221428571428571 TRUE TRUE +ENSG00000135631.17 . BCM GRCh38.p13 chr2 73089431 73089431 + C C G Intron SNP NA NA NA NA intronic ENSG00000135631.17 . . . 2p13.2 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB11FIP5 187 0 124 31 0.2 TRUE NA +ENSG00000175110.11 . BCM GRCh38.p13 chr3 139163136 139163136 + A A - Intron SNP NA NA NA NA intronic ENSG00000175110.11 . . . 3q23 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRPS22 214 0 184 63 0.255060728744939 TRUE TRUE +ENSG00000134058.12 . BCM GRCh38.p13 chr5 69255668 69255668 + C C A Intron SNP NA NA NA NA intronic ENSG00000134058.12 . . . 5q13.2 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDK7 81 0 54 3 0.0526315789473684 TRUE NA +ENSG00000254035.1 . BCM GRCh38.p13 chr5 178987313 178987313 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000254035.1 . . . 5q35.3 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC104117.3 416 0 386 91 0.190775681341719 TRUE NA +ENSG00000207973.1 . BCM GRCh38.p13 chr7 5495854 5495854 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207973.1 . . . 7p22.1 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR589 236 0 187 52 0.217573221757322 TRUE NA +ENSG00000106113.19 . BCM GRCh38.p13 chr7 30654864 30654864 + C C T Intron SNP NA NA NA NA intronic ENSG00000106113.19 . . . 7p14.3 C3L-01560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRHR2 412 1 368 114 0.236514522821577 TRUE NA +ENSG00000188243.12 . BCM GRCh38.p13 chr13 75537436 75537436 + C C G Intron SNP NA NA NA NA intronic ENSG00000188243.12 . . . 13q22.2 C3L-01560 . . . . . . . . . 1.15 D T . . . N . T N 0.106 T T T 0.025 0.133 0.419 . . T T T T T 0.437 5.833 0.936 N N -0.519 1.140 -0.677 0.933 1.000 0.243 0.219 0.391 0.404 . 4.240 1.550 0.022 0.054 -0.171 0.001 0.004 0.020 802 . . . . COMMD6 215 0 220 29 0.116465863453815 TRUE NA +ENSG00000227158.1 . BCM GRCh38.p13 chr17 17423215 17423215 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000227158.1 . . . 17p11.2 C3L-01560 1.044e-05 0 0 0.0001 0 0 0 0 rs761883960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC073621.2 111 0 72 16 0.181818181818182 TRUE NA +ENSG00000116691.11 . BCM GRCh38.p13 chr1 12031297 12031297 + C C T Missense_Mutation SNP ENST00000235332.6 exon9 c.C974T p.P325L exonic ENSG00000116691.11 . nonsynonymous SNV ENSG00000116691.11:ENST00000235332.6:exon9:c.C974T:p.P325L 1p36.22 C3L-01603 8.351e-06 0 0 0 0 0 0 6.137e-05 rs759958145 7.19 T D D D N A M T D 0.507 T T . 0.163 0.342 0.370 0.494 T T T T D T 3.674 25.300 0.997 N N -0.067 2.283 -0.061 2.163 1.000 0.713 0.702 0.780 0.692 . 4.650 3.710 1.440 1.026 0.549 0.585 0.050 0.760 669 . . . . MIIP 118 0 171 44 0.204651162790698 TRUE NA +ENSG00000187889.13 . BCM GRCh38.p13 chr1 56726576 56726576 + C C T Missense_Mutation SNP ENST00000343433.7 exon16 c.G1801A p.D601N exonic ENSG00000187889.13 . nonsynonymous SNV ENSG00000187889.13:ENST00000343433.7:exon16:c.G1801A:p.D601N 1p32.2 C3L-01603 . . . . . . . . . 2.18 T T D P N D . T N 0.289 T T T 0.110 0.191 0.105 0.025 . T T T T T 3.166 23.800 0.998 N N -0.136 2.063 -0.261 1.647 0.000 0.487 0.574 0.547 0.564 . 4.210 1.130 0.605 1.026 0.599 0.998 0.846 0.611 933 . . . . FYB2 118 0 27 5 0.15625 TRUE TRUE +ENSG00000197147.13 . BCM GRCh38.p13 chr1 89583454 89583454 + - NA T Frame_Shift_Ins INS ENST00000640258.1 exon8 c.805dupT p.V270Cfs*17 exonic ENSG00000197147.13 . frameshift insertion ENSG00000197147.13:ENST00000640258.1:exon8:c.805dupT:p.V270Cfs*17 1p22.2 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC8B NA NA NA NA NA NA NA +ENSG00000254726.3 . BCM GRCh38.p13 chr1 156081646 156081646 + A A T Missense_Mutation SNP ENST00000532414.3 exon1 c.T353A p.L118H exonic ENSG00000254726.3 . nonsynonymous SNV ENSG00000254726.3:ENST00000532414.3:exon1:c.T353A:p.L118H 1q22 C3L-01603 . . . . . . . . . 8.19 D T D P . D N T N 0.329 T T D 0.161 0.407 0.103 2.555 D T T T D T 3.966 26.700 0.974 D D 0.132 3.016 0.155 2.972 1.000 0.733 0.552 0.601 0.581 . 3.410 3.410 3.276 1.207 0.750 0.767 1.000 0.998 371 . . . . MEX3A 213 0 314 113 0.26463700234192 TRUE TRUE +ENSG00000115355.17 . BCM GRCh38.p13 chr2 55296020 55296020 + C C G Missense_Mutation SNP ENST00000436346.7 exon31 c.G5128C p.V1710L exonic ENSG00000115355.17 . nonsynonymous SNV ENSG00000115355.17:ENST00000436346.7:exon31:c.G5128C:p.V1710L 2p16.1 C3L-01603 . . . . . . . . . 5.20 T T P B U D L T N 0.633 T T T 0.102 0.439 0.410 0.122 T T T T D D 2.458 22.300 0.986 D D 0.269 3.624 0.351 4.025 1.000 0.732 0.723 0.744 0.714 . 4.790 4.790 5.366 1.026 0.599 1.000 1.000 1.000 482 . . . . CCDC88A 86 0 29 5 0.147058823529412 NA TRUE +ENSG00000176204.13 . BCM GRCh38.p13 chr2 77519016 77519016 + C C G Missense_Mutation SNP ENST00000409093.1 exon3 c.G853C p.D285H exonic ENSG00000176204.13 . nonsynonymous SNV ENSG00000176204.13:ENST00000409093.1:exon3:c.G853C:p.D285H 2p12 C3L-01603 . . . . . . . . . 14.20 D D D D D D L T D 0.831 T T D 0.435 0.465 0.519 1.649 T T D D D D 3.844 26.000 0.994 D D 0.762 8.090 0.795 9.963 1.000 0.476 0.574 0.670 0.564 . 5.840 5.840 7.905 1.026 0.599 1.000 1.000 0.999 980 . . . . LRRTM4 142 0 28 6 0.176470588235294 NA TRUE +ENSG00000242515.5 . BCM GRCh38.p13 chr2 233636538 233636538 + - NA G Frame_Shift_Ins INS ENST00000344644.9 exon1 c.17dupG p.T7Dfs*48 exonic ENSG00000242515.5 . frameshift insertion ENSG00000242515.5:ENST00000344644.9:exon1:c.17dupG:p.T7Dfs*48 2q37.1 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UGT1A10 NA NA NA NA NA NA NA +ENSG00000204104.12 . BCM GRCh38.p13 chr2 238352916 238352916 + - NA CCCT Frame_Shift_Ins INS ENST00000373327.5 exon13 c.1541_1542insCCCT p.Q516Pfs*5 exonic ENSG00000204104.12 . frameshift insertion ENSG00000204104.12:ENST00000373327.5:exon13:c.1541_1542insCCCT:p.Q516Pfs*5 2q37.3 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAF3IP1 NA NA NA NA NA NA NA +ENSG00000144504.15 . BCM GRCh38.p13 chr2 240481050 240481050 + A A G Missense_Mutation SNP ENST00000272972.7 exon16 c.T2666C p.V889A exonic ENSG00000144504.15 . nonsynonymous SNV ENSG00000144504.15:ENST00000272972.7:exon16:c.T2666C:p.V889A 2q37.3 C3L-01603 . . . . . . . . . 12.20 D D D D U D M T D 0.412 T T D 0.297 0.596 0.759 . T T T T D D 3.833 26.000 0.998 D D 0.454 4.695 0.378 4.208 0.029 0.638 0.670 0.573 0.613 . 3.890 3.890 3.316 1.209 0.691 0.933 0.485 0.627 994 Zinc_finger,_MYND-type . . ID=COSV56036094;OCCURENCE=1(oesophagus) ANKMY1 165 1 264 76 0.223529411764706 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142139 10142139 + T T A Missense_Mutation SNP ENST00000256474.3 exon1 c.T292A p.Y98N exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T292A:p.Y98N 3p25.3 C3L-01603 . . . . . . . . . 19.20 T D D D D D M D D 0.966 D D D 0.947 0.779 0.998 1.277 D D D D D D 4.479 32 0.982 D D 0.720 7.406 0.661 7.086 1.000 0.442 0.522 0.522 0.373 . 5.160 5.160 5.029 0.971 0.576 1.000 0.639 0.946 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56553058;OCCURENCE=2(kidney) VHL 431 0 395 196 0.331641285956007 TRUE TRUE +ENSG00000174844.14 . BCM GRCh38.p13 chr3 57323573 57323573 + T T - Frame_Shift_Del DEL ENST00000351747.6 exon48 c.7421delA p.K2474Sfs*3 exonic ENSG00000174844.14 . frameshift deletion ENSG00000174844.14:ENST00000351747.6:exon48:c.7421delA:p.K2474Sfs*3 3p14.3 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH12 110 0 14 3 0.176470588235294 TRUE TRUE +ENSG00000178075.20 . BCM GRCh38.p13 chr3 113936347 113936347 + G G C Missense_Mutation SNP ENST00000358160.9 exon14 c.G1538C p.R513T exonic ENSG00000178075.20 . nonsynonymous SNV ENSG00000178075.20:ENST00000358160.9:exon14:c.G1538C:p.R513T 3q13.31 C3L-01603 . . . . . . . . . 11.19 D D D D D D . T D 0.448 T T T 0.282 0.378 0.366 0.761 T T T T D D 4.035 27.200 0.987 D D 0.890 10.792 0.883 13.043 1.000 0.615 0.588 0.547 0.655 . 6.060 6.060 8.465 1.176 0.676 1.000 0.996 0.993 596 . . . . GRAMD1C 225 0 84 24 0.222222222222222 TRUE TRUE +ENSG00000121879.5 . BCM GRCh38.p13 chr3 179210194 179210199 + TCCATT TCCATT - In_Frame_Del DEL ENST00000263967.4 exon8 c.1260_1265del p.C420_L422delinsW exonic ENSG00000121879.5 . nonframeshift deletion ENSG00000121879.5:ENST00000263967.4:exon8:c.1260_1265del:p.C420_L422delinsW 3q26.32 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3CA 160 0 28 6 0.176470588235294 TRUE TRUE +ENSG00000178772.7 . BCM GRCh38.p13 chr3 194342503 194342503 + C C T Missense_Mutation SNP ENST00000323830.4 exon2 c.G200A p.R67K exonic ENSG00000178772.7 . nonsynonymous SNV ENSG00000178772.7:ENST00000323830.4:exon2:c.G200A:p.R67K 3q29 C3L-01603 . . . . . . . . . 2.20 T T P B N N L T N 0.267 T T T 0.057 0.457 0.869 0.378 T T T T T T 1.439 15.340 0.959 D D -0.169 1.964 -0.084 2.094 1.000 0.603 0.563 0.549 0.530 . 5.190 5.190 1.005 1.026 0.599 0.001 0.254 0.312 883 . . . . CPN2 161 0 222 55 0.1985559566787 TRUE TRUE +ENSG00000113504.21 . BCM GRCh38.p13 chr5 1081606 1081606 + A A G Missense_Mutation SNP ENST00000264930.10 exon9 c.T1268C p.L423P exonic ENSG00000113504.21 . nonsynonymous SNV ENSG00000113504.21:ENST00000264930.10:exon9:c.T1268C:p.L423P 5p15.33 C3L-01603 . . . . . . . . . 19.20 D D D D D D M D D 0.979 D D D 0.960 0.774 0.914 1.339 T D D D D D 3.743 25.600 0.998 D D 0.671 6.734 0.501 5.168 1.000 0.696 0.634 0.723 0.636 . 3.790 3.790 8.490 1.145 0.691 1.000 0.881 0.710 976 Amino_acid_permease/_SLC12A_domain . . . SLC12A7 137 0 205 56 0.21455938697318 TRUE TRUE +ENSG00000164237.9 . BCM GRCh38.p13 chr5 10286493 10286493 + C C A Missense_Mutation SNP ENST00000296658.4 exon4 c.G327T p.E109D exonic ENSG00000164237.9 . nonsynonymous SNV ENSG00000164237.9:ENST00000296658.4:exon4:c.G327T:p.E109D 5p15.2 C3L-01603 . . . . . . . . . 2.20 T T P B D N L T N 0.814 T T T 0.216 0.674 0.300 0.187 T T T T T T 0.553 7.053 0.985 N D -1.004 0.400 -1.060 0.418 1.000 0.706 0.634 0.710 0.613 . 5.120 0.212 0.347 0.130 -0.187 0.052 0.421 0.201 867 Dienelactone_hydrolase . . . CMBL 87 0 52 7 0.11864406779661 TRUE TRUE +ENSG00000154122.14 . BCM GRCh38.p13 chr5 14741877 14741877 + C C T Missense_Mutation SNP ENST00000284268.8 exon8 c.G961A p.A321T exonic ENSG00000154122.14 . nonsynonymous SNV ENSG00000154122.14:ENST00000284268.8:exon8:c.G961A:p.A321T 5p15.2 C3L-01603 . . . . . . . . . 5.20 T T B B D N N D N 0.301 T T D 0.153 0.327 0.863 0.877 T D T T T D 1.225 13.830 0.901 N N -0.769 0.702 -0.667 0.947 1.000 0.742 0.744 0.775 0.613 . 5.390 2.450 1.126 0.074 0.599 0.937 0.050 0.330 883 . . . . ANKH 224 0 333 109 0.246606334841629 TRUE TRUE +ENSG00000164181.14 . BCM GRCh38.p13 chr5 60754821 60754821 + T T G Missense_Mutation SNP ENST00000508821.6 exon9 c.A649C p.I217L exonic ENSG00000164181.14 . nonsynonymous SNV ENSG00000164181.14:ENST00000508821.6:exon9:c.A649C:p.I217L 5q12.1 C3L-01603 . . . . . . . . . 1.20 T T B B N N N T N 0.146 T T T 0.044 0.657 0.110 0.164 T T T T T T 1.537 15.970 0.616 D N -0.730 0.763 -0.529 1.156 0.000 0.615 0.588 0.659 0.542 . 5.890 0.524 1.179 0.142 0.665 0.852 0.984 0.997 0 . . . . ELOVL7 181 0 47 6 0.113207547169811 NA TRUE +ENSG00000152503.9 . BCM GRCh38.p13 chr5 115126570 115126570 + C C T Missense_Mutation SNP ENST00000282369.7 exon10 c.G2120A p.G707D exonic ENSG00000152503.9 . nonsynonymous SNV ENSG00000152503.9:ENST00000282369.7:exon10:c.G2120A:p.G707D 5q22.3 C3L-01603 . . . . . . . . . 15.20 D D D D D D M T D 0.926 T T D 0.521 0.534 0.880 0.358 T T D D D D 3.751 25.600 0.999 D D 0.770 8.226 0.779 9.530 1.000 0.737 0.574 0.733 0.621 . 5.730 5.730 7.405 1.026 0.599 1.000 0.998 0.984 889 0.000 . . ID=COSV56688694;OCCURENCE=1(large_intestine) TRIM36 140 0 25 9 0.264705882352941 TRUE TRUE +ENSG00000120328.6 . BCM GRCh38.p13 chr5 141210016 141210016 + T T C Missense_Mutation SNP ENST00000239450.4 exon1 c.T1109C p.I370T exonic ENSG00000120328.6 . nonsynonymous SNV ENSG00000120328.6:ENST00000239450.4:exon1:c.T1109C:p.I370T 5q31.3 C3L-01603 . . . . . . . . . 7.19 D D B B . N L T D 0.247 T T D 0.180 0.590 0.576 0.591 T T T T D T 2.114 20.200 0.898 D D -0.270 1.689 -0.337 1.490 0.571 0.581 0.574 0.576 0.613 . 4.060 2.890 3.520 1.120 0.605 0.487 0.049 0.144 692 Cadherin-like . . . PCDHB12 222 0 175 53 0.232456140350877 TRUE TRUE +ENSG00000164576.12 . BCM GRCh38.p13 chr5 154446785 154446785 + A A C Missense_Mutation SNP ENST00000297109.11 exon1 c.A181C p.K61Q exonic ENSG00000164576.12 . nonsynonymous SNV ENSG00000164576.12:ENST00000297109.11:exon1:c.A181C:p.K61Q 5q33.2 C3L-01603 . . . . . . . . . 14.19 D D D D D D M . D 0.293 T T D 0.125 0.369 0.177 1.507 D T T T D D 3.556 24.900 0.992 D D 0.213 3.361 0.155 2.972 1.000 0.726 0.522 0.594 0.562 . 3.650 1.040 3.818 1.303 0.751 1.000 1.000 1.000 778 Histone_deacetylase_complex_subunit_SAP30_zinc-finger . . . SAP30L 162 0 322 91 0.220338983050847 TRUE TRUE +ENSG00000204713.11 . BCM GRCh38.p13 chr6 28904624 28904624 + T T C Missense_Mutation SNP ENST00000377199.4 exon8 c.A988G p.I330V exonic ENSG00000204713.11 . nonsynonymous SNV ENSG00000204713.11:ENST00000377199.4:exon8:c.A988G:p.I330V 6p22.1 C3L-01603 . . . . . . . . . 0.19 T T B B N N N T N 0.105 T T T 0.040 0.436 0.134 0.985 T T T T T . 0.983 11.400 0.875 N N -0.766 0.706 -0.615 1.023 0.997 0.707 0.702 0.702 0.714 . 4.740 2.420 -0.795 1.138 0.665 0.000 1.000 0.996 744 0.000 . . . TRIM27 94 0 139 42 0.232044198895028 TRUE TRUE +ENSG00000112164.6 . BCM GRCh38.p13 chr6 39079574 39079574 + T T C Missense_Mutation SNP ENST00000373256.5 exon11 c.T1054C p.S352P exonic ENSG00000112164.6 . nonsynonymous SNV ENSG00000112164.6:ENST00000373256.5:exon11:c.T1054C:p.S352P 6p21.2 C3L-01603 . . . . . . . . . 17.20 D D D D D D M T D 0.988 T T D 0.653 0.909 0.830 1.522 D D D D D D 4.328 29.800 0.999 D D 0.783 8.464 0.718 8.096 1.000 0.615 0.590 0.659 0.542 . 5.400 5.400 6.175 1.138 0.665 1.000 1.000 0.981 808 GPCR,_family_2-like . . . GLP1R 61 0 76 34 0.309090909090909 TRUE TRUE +ENSG00000124602.10 . BCM GRCh38.p13 chr6 41034095 41034095 + C C G Missense_Mutation SNP ENST00000244565.8 exon3 c.G472C p.G158R exonic ENSG00000124602.10 . nonsynonymous SNV ENSG00000124602.10:ENST00000244565.8:exon3:c.G472C:p.G158R 6p21.1 C3L-01603 . . . . . . . . . 6.20 D D P P N D L T N 0.775 T T T 0.173 0.593 0.679 0.572 T T T T D T 3.664 25.300 0.999 D D 0.455 4.701 0.477 4.954 1.000 0.615 0.588 0.659 0.613 . 4.780 4.780 3.860 1.026 0.599 0.998 0.924 0.977 454 ZU5_domain . . . UNC5CL 249 0 332 126 0.275109170305677 TRUE TRUE +ENSG00000087085.15 . BCM GRCh38.p13 chr7 100893980 100893980 + G G A Nonsense_Mutation SNP ENST00000241069.11 exon2 c.C253T p.Q85X exonic ENSG00000087085.15 . stopgain ENSG00000087085.15:ENST00000241069.11:exon2:c.C253T:p.Q85X 7q22.1 C3L-01603 . . . . . . . . . 3.5 . . . . N A . . . 0.870 . . . . . . . . . D D . . 5.397 34 0.994 N . 0.357 4.089 0.089 2.688 1.000 0.609 0.628 0.615 0.563 . 5.020 0.655 -0.141 1.176 0.676 0.000 1.000 0.971 708 Carboxylesterase,_type_B . . . ACHE 114 0 159 48 0.231884057971014 TRUE TRUE +ENSG00000105865.11 . BCM GRCh38.p13 chr7 107577436 107577436 + G G A Missense_Mutation SNP ENST00000265720.8 exon8 c.G830A p.C277Y exonic ENSG00000105865.11 . nonsynonymous SNV ENSG00000105865.11:ENST00000265720.8:exon8:c.G830A:p.C277Y 7q22.3 C3L-01603 . . . . . . . . . 9.19 T T B B D D L T D 0.806 T T T 0.380 0.600 0.379 0.369 D T D D D . 2.769 23.000 0.902 D D -0.053 2.327 0.141 2.908 1.000 0.706 0.693 0.710 0.646 . 5.670 4.770 9.396 1.176 0.676 1.000 1.000 0.999 610 . . . . DUS4L 242 0 76 26 0.254901960784314 TRUE TRUE +ENSG00000009335.18 . BCM GRCh38.p13 chr7 157231226 157231226 + A A G Missense_Mutation SNP ENST00000348165.10 exon18 c.A2380G p.T794A exonic ENSG00000009335.18 . nonsynonymous SNV ENSG00000009335.18:ENST00000348165.10:exon18:c.A2380G:p.T794A 7q36.3 C3L-01603 . . . . . . . . . 5.20 T T B B D D N T N 0.331 T T T 0.129 0.572 0.129 0.901 T T T T D T 2.336 21.800 0.988 D D -0.138 2.057 0.094 2.709 1.000 0.732 0.725 0.744 0.714 . 5.460 5.460 7.109 1.312 0.756 1.000 1.000 1.000 982 HECT_domain . . . UBE3C 384 0 218 75 0.255972696245734 TRUE TRUE +ENSG00000181690.8 . BCM GRCh38.p13 chr8 56166975 56166975 + A A T Missense_Mutation SNP ENST00000316981.8 exon5 c.T771A p.N257K exonic ENSG00000181690.8 . nonsynonymous SNV ENSG00000181690.8:ENST00000316981.8:exon5:c.T771A:p.N257K 8q12.1 C3L-01603 . . . . . . . . . 2.20 D T B B N N L T N 0.647 T T T 0.072 0.561 0.268 0.664 T T T T T D -0.149 0.657 0.920 N N -1.355 0.137 -1.407 0.148 1.000 0.644 0.654 0.688 0.636 . 5.930 -8.780 -0.836 -0.364 -0.113 0.002 0.992 0.995 875 . . . . PLAG1 213 0 132 7 0.0503597122302158 NA TRUE +ENSG00000070610.14 . BCM GRCh38.p13 chr9 35740884 35740884 + G G A Missense_Mutation SNP ENST00000378103.7 exon5 c.C967T p.L323F exonic ENSG00000070610.14 . nonsynonymous SNV ENSG00000070610.14:ENST00000378103.7:exon5:c.C967T:p.L323F 9p13.3 C3L-01603 8.24e-06 0 8.643e-05 0 0 0 0 0 rs769905389 13.19 D D D D D D M . D 0.728 T T D 0.197 . 0.518 1.021 T D T T D D 2.687 22.800 0.999 D N 0.530 5.281 0.474 4.932 1.000 0.672 0.702 0.698 0.711 . 5.950 5.050 3.019 1.176 0.676 1.000 0.830 0.861 94 Glycosyl-hydrolase_family_116,_N-terminal . . . GBA2 284 0 385 116 0.231536926147705 TRUE NA +ENSG00000204849.10 . BCM GRCh38.p13 chr9 39360932 39360932 + G G A Missense_Mutation SNP ENST00000377647.6 exon4 c.G3167A p.G1056D exonic ENSG00000204849.10 . nonsynonymous SNV ENSG00000204849.10:ENST00000377647.6:exon4:c.G3167A:p.G1056D 9p12 C3L-01603 . . . . . . . . . 0.12 . T . . N N . . . 0.142 T T T 0.029 . 0.014 . . . T T T T 0.501 6.510 0.974 N N -1.007 0.396 -1.224 0.263 0.000 0.487 0.574 0.574 0.564 . 1.350 -2.690 -0.538 -0.013 0.575 0.000 0.001 0.006 988 . . . . SPATA31A1 159 1 182 64 0.260162601626016 NA TRUE +ENSG00000106771.13 . BCM GRCh38.p13 chr9 109020465 109020465 + C C G Missense_Mutation SNP ENST00000374586.8 exon18 c.G2635C p.G879R exonic ENSG00000106771.13 . nonsynonymous SNV ENSG00000106771.13:ENST00000374586.8:exon18:c.G2635C:p.G879R 9q31.3 C3L-01603 . . . . . . . . . 1.14 D . . . . N . T N 0.193 T T T 0.081 0.355 0.246 0.253 T . T T T T 1.592 16.320 0.993 N N -0.132 2.074 -0.068 2.140 1.000 0.732 0.725 0.744 0.714 . 5.220 5.220 1.096 1.026 0.599 0.494 0.284 0.108 856 . . . . TMEM245 209 0 198 37 0.157446808510638 TRUE TRUE +ENSG00000159069.14 . BCM GRCh38.p13 chr9 136942606 136942606 + G G T Missense_Mutation SNP ENST00000325285.8 exon5 c.C616A p.L206M exonic ENSG00000159069.14 . nonsynonymous SNV ENSG00000159069.14:ENST00000325285.8:exon5:c.C616A:p.L206M 9q34.3 C3L-01603 . . . . . . . . . 8.20 D D P B D D L T N 0.448 T T T 0.138 0.318 0.605 . T T T T D D 2.840 23.100 0.988 D D 0.172 3.181 0.122 2.829 1.000 0.672 0.698 0.723 0.711 . 3.790 1.930 3.744 0.151 0.562 1.000 0.992 0.913 878 . . . . FBXW5 245 1 360 97 0.212253829321663 TRUE TRUE +ENSG00000095777.17 . BCM GRCh38.p13 chr10 25952255 25952255 + - NA T Frame_Shift_Ins INS ENST00000642920.2 exon3 c.146dupT p.K50Qfs*4 exonic ENSG00000095777.17 . frameshift insertion ENSG00000095777.17:ENST00000642920.2:exon3:c.146dupT:p.K50Qfs*4 10p12.1 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO3A NA NA NA NA NA NA NA +ENSG00000165733.8 . BCM GRCh38.p13 chr10 42802137 42802137 + G G A Missense_Mutation SNP ENST00000374518.6 exon13 c.G2248A p.V750I exonic ENSG00000165733.8 . nonsynonymous SNV ENSG00000165733.8:ENST00000374518.6:exon13:c.G2248A:p.V750I 10q11.21 C3L-01603 . . . . . . . . . 4.20 T T P B N D L T N 0.242 T T T 0.080 0.373 0.481 0.098 T T T T D D 2.785 23.000 0.970 D N 0.061 2.735 0.223 3.299 0.997 0.732 0.725 0.744 0.734 . 5.830 5.830 5.510 1.157 0.654 1.000 0.310 0.012 867 . . . . BMS1 97 0 19 5 0.208333333333333 NA TRUE +ENSG00000122870.12 . BCM GRCh38.p13 chr10 58789417 58789423 + CATAGTA CATAGTA - Frame_Shift_Del DEL ENST00000373886.8 exon7 c.756_762del p.I253Efs*10 exonic ENSG00000122870.12 . frameshift deletion ENSG00000122870.12:ENST00000373886.8:exon7:c.756_762del:p.I253Efs*10 10q21.1 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BICC1 90 0 27 4 0.129032258064516 TRUE TRUE +ENSG00000180817.12 . BCM GRCh38.p13 chr10 70217895 70217895 + C C A Missense_Mutation SNP ENST00000373232.8 exon4 c.G214T p.D72Y exonic ENSG00000180817.12 . nonsynonymous SNV ENSG00000180817.12:ENST00000373232.8:exon4:c.G214T:p.D72Y 10q22.1 C3L-01603 . . . . . . . . . 16.20 D D D D D D M T D 0.981 T T D 0.590 0.808 0.836 0.540 D D D D D T 4.179 28.500 0.994 D D 0.916 11.460 0.904 13.906 1.000 0.732 0.744 0.710 0.728 . 6.070 6.070 7.905 1.005 0.545 1.000 1.000 0.996 382 . . . . PPA1 102 0 32 5 0.135135135135135 TRUE TRUE +ENSG00000175264.8 . BCM GRCh38.p13 chr11 45650653 45650653 + C C G Missense_Mutation SNP ENST00000308064.7 exon4 c.G271C p.E91Q exonic ENSG00000175264.8 . nonsynonymous SNV ENSG00000175264.8:ENST00000308064.7:exon4:c.G271C:p.E91Q 11p11.2 C3L-01603 . . . . . . . . . 18.19 D D D D D D . D D 0.958 D D D 0.930 0.940 0.953 2.120 T D D D D D 3.922 26.500 0.998 D D 0.909 11.296 0.832 11.149 1.000 0.707 0.547 0.576 0.714 . 5.090 5.090 7.902 1.026 0.599 1.000 1.000 0.996 637 Sulfotransferase_domain . . . CHST1 175 0 276 88 0.241758241758242 TRUE TRUE +ENSG00000150750.8 . BCM GRCh38.p13 chr11 111285735 111285735 + C C T Missense_Mutation SNP ENST00000637637.1 exon4 c.C392T p.P131L exonic ENSG00000150750.8 . nonsynonymous SNV ENSG00000150750.8:ENST00000637637.1:exon4:c.C392T:p.P131L 11q23.1 C3L-01603 . . . . . . . . . 6.17 D . P B N D M . D . T T T 0.335 0.192 0.278 0.619 . T T T D D 2.056 19.680 0.992 N N 0.114 2.943 0.114 2.791 1.000 0.554 0.588 0.547 0.542 . 4.960 4.010 2.962 1.026 0.599 0.023 0.944 0.936 725 . . . . C11orf53 224 0 289 106 0.268354430379747 TRUE TRUE +ENSG00000204361.10 . BCM GRCh38.p13 chr11 114705986 114705986 + A A T Missense_Mutation SNP ENST00000389586.6 exon5 c.A1134T p.K378N exonic ENSG00000204361.10 . nonsynonymous SNV ENSG00000204361.10:ENST00000389586.6:exon5:c.A1134T:p.K378N 11q23.3 C3L-01603 . . . . . . . . . 0.20 T T B B N N L T N 0.112 T T T 0.101 0.337 0.014 0.011 T T T T T T 0.852 9.920 0.943 N N -0.733 0.759 -0.730 0.856 0.001 0.487 0.574 0.574 0.564 . 5.150 4.000 0.321 1.288 0.756 0.000 0.120 0.113 863 . . . . NXPE2 68 0 10 4 0.285714285714286 NA TRUE +ENSG00000129467.13 . BCM GRCh38.p13 chr14 24331316 24331316 + C C T Missense_Mutation SNP ENST00000310677.8 exon6 c.G710A p.R237Q exonic ENSG00000129467.13 . nonsynonymous SNV ENSG00000129467.13:ENST00000310677.8:exon6:c.G710A:p.R237Q 14q12 C3L-01603 8.24e-06 0 0 0 0 1.499e-05 0 0 rs148797686 1.19 T T B B N D L T N 0.196 T T T 0.090 . 0.747 0.374 T T T T T . 1.677 16.870 0.998 N N -0.622 0.949 -0.516 1.176 1.000 0.672 0.551 0.563 0.711 . 4.890 3.090 -0.049 -0.230 -0.802 0.001 0.996 0.983 856 Adenylate_cyclase,_N-terminal;Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . ADCY4 265 0 330 103 0.237875288683603 TRUE NA +ENSG00000100934.15 . BCM GRCh38.p13 chr14 39033294 39033294 + C C A Missense_Mutation SNP ENST00000307712.11 exon20 c.G2243T p.S748I exonic ENSG00000100934.15 . nonsynonymous SNV ENSG00000100934.15:ENST00000307712.11:exon20:c.G2243T:p.S748I 14q21.1 C3L-01603 . . . . . . . . . 20.20 D D D D D D H D D 0.947 D D D 0.886 0.494 0.997 1.292 D D D D D D 3.944 26.600 0.996 D D 1.032 14.970 0.959 16.543 1.000 0.732 0.744 0.744 0.613 . 5.730 5.730 7.713 1.026 0.549 1.000 1.000 0.997 852 . . . . SEC23A 219 0 45 15 0.25 TRUE TRUE +ENSG00000140395.9 . BCM GRCh38.p13 chr15 78290076 78290076 + A A T Missense_Mutation SNP ENST00000267973.7 exon6 c.T343A p.S115T exonic ENSG00000140395.9 . nonsynonymous SNV ENSG00000140395.9:ENST00000267973.7:exon6:c.T343A:p.S115T 15q25.1 C3L-01603 . . . . . . . . . 14.20 T D P B D D M D N 0.797 D D D 0.697 0.750 0.924 0.789 T T D D D D 3.252 24.000 0.988 D D 0.689 6.973 0.738 8.521 1.000 0.732 0.744 0.710 0.728 . 5.980 5.980 9.129 1.312 0.756 1.000 1.000 0.999 671 WD40-repeat-containing_domain . . . WDR61 159 1 55 11 0.166666666666667 NA TRUE +ENSG00000167302.10 . BCM GRCh38.p13 chr17 81231405 81231405 + G G A Missense_Mutation SNP ENST00000300714.7 exon10 c.C887T p.T296M exonic ENSG00000167302.10 . nonsynonymous SNV ENSG00000167302.10:ENST00000300714.7:exon10:c.C887T:p.T296M 17q25.3 C3L-01603 0.0015 0.0090 0 0 0.0156 0 0 0 rs142276693 3.19 D D D B N N L T N 0.167 T T . 0.118 . 0.151 0.165 T T T T T T 0.311 4.413 0.991 N N -1.006 0.398 -1.245 0.247 1.000 0.707 0.702 0.723 0.714 . 4.850 -9.710 -0.167 0.144 0.618 0.000 0.004 0.009 . . . . . TEPSIN 72 0 96 34 0.261538461538462 TRUE NA +ENSG00000073008.15 . BCM GRCh38.p13 chr19 44647543 44647543 + A A T Missense_Mutation SNP ENST00000425690.8 exon2 c.A400T p.S134C exonic ENSG00000073008.15 . nonsynonymous SNV ENSG00000073008.15:ENST00000425690.8:exon2:c.A400T:p.S134C 19q13.31 C3L-01603 . . . . . . . . . 11.20 D D D D N N M D D 0.266 D D D 0.278 0.636 0.994 1.108 T T T T D T 3.140 23.700 0.982 N N -0.161 1.987 -0.409 1.355 1.000 0.722 0.588 0.571 0.735 . 4.780 2.640 0.607 1.153 0.557 0.001 0.012 0.007 712 Immunoglobulin_V-set_domain;Immunoglobulin_subtype . . . PVR 141 0 218 62 0.221428571428571 TRUE TRUE +ENSG00000215251.4 . BCM GRCh38.p13 chr20 3148781 3148781 + C C T Missense_Mutation SNP ENST00000380266.4 exon2 c.G290A p.R97K exonic ENSG00000215251.4 . nonsynonymous SNV ENSG00000215251.4:ENST00000380266.4:exon2:c.G290A:p.R97K 20p13 C3L-01603 . . . . . . . . . 0.20 T T B B N N L T N 0.097 T T T 0.041 0.160 0.285 0.074 T T T T T T 0.221 3.369 0.845 N N -0.830 0.612 -0.827 0.721 0.398 0.719 0.723 0.725 0.714 . 4.790 2.860 0.296 1.026 0.599 0.000 0.001 0.001 702 . . . . FASTKD5 217 0 193 41 0.175213675213675 TRUE TRUE +ENSG00000101349.16 . BCM GRCh38.p13 chr20 9580913 9580913 + G G T Missense_Mutation SNP ENST00000378429.3 exon5 c.C222A p.N74K exonic ENSG00000101349.16 . nonsynonymous SNV ENSG00000101349.16:ENST00000378429.3:exon5:c.C222A:p.N74K 20p12.2 C3L-01603 . . . . . . . . . 6.19 T T B B D D . T N 0.538 T T T 0.063 0.311 0.043 0.332 T T T T D D 2.055 19.670 0.992 D D -0.163 1.982 -0.033 2.248 0.003 0.487 0.547 0.574 0.613 . 5.930 2.850 3.369 -0.102 0.676 1.000 0.983 0.988 838 . . . . PAK5 89 0 115 28 0.195804195804196 TRUE TRUE +ENSG00000088305.18 . BCM GRCh38.p13 chr20 32788860 32788860 + A A G Missense_Mutation SNP ENST00000328111.6 exon7 c.A661G p.K221E exonic ENSG00000088305.18 . nonsynonymous SNV ENSG00000088305.18:ENST00000328111.6:exon7:c.A661G:p.K221E 20q11.21 C3L-01603 . . . . . . . . . 12.20 D T D D D D M T D 0.741 T T D 0.457 0.342 0.679 0.300 T T D T D D 4.169 28.400 0.998 D N 0.499 5.031 0.505 5.205 0.987 0.672 0.588 0.702 0.636 . 5.610 4.470 3.223 1.312 0.756 0.993 0.996 0.968 310 . . . . DNMT3B 191 1 310 18 0.0548780487804878 TRUE NA +ENSG00000149596.7 . BCM GRCh38.p13 chr20 44160309 44160309 + G G A Missense_Mutation SNP ENST00000372980.4 exon2 c.C478T p.R160C exonic ENSG00000149596.7 . nonsynonymous SNV ENSG00000149596.7:ENST00000372980.4:exon2:c.C478T:p.R160C 20q13.12 C3L-01603 . . . . . . . . rs894217949 16.20 D D D D U D M T D 0.859 T T D 0.602 0.516 0.923 . D D D D D D 4.489 32 0.999 D D 0.589 5.818 0.502 5.175 1.000 0.516 0.610 0.578 0.542 . 3.340 3.340 6.123 1.004 0.524 1.000 1.000 0.996 566 . . . ID=COSV65905525;OCCURENCE=1(large_intestine),1(endometrium) JPH2 462 0 546 215 0.282522996057819 TRUE TRUE +ENSG00000060491.16 . BCM GRCh38.p13 chr20 62813251 62813251 + C C T Missense_Mutation SNP ENST00000290291.10 exon7 c.C1636T p.P546S exonic ENSG00000060491.16 . nonsynonymous SNV ENSG00000060491.16:ENST00000290291.10:exon7:c.C1636T:p.P546S 20q13.33 C3L-01603 . . . . . . . . . 1.19 D T P B . N N T N 0.053 T T T 0.045 0.528 0.219 0.655 T T T T T T -0.115 0.771 0.890 N N -0.883 0.542 -1.052 0.427 0.996 0.707 0.702 0.723 0.714 . 1.120 1.120 -1.234 -0.345 -0.663 0.000 0.001 0.002 894 . . . . OGFR 768 1 932 146 0.13543599257885 TRUE TRUE +ENSG00000060491.16 . BCM GRCh38.p13 chr20 62813431 62813431 + C C T Missense_Mutation SNP ENST00000290291.10 exon7 c.C1816T p.P606S exonic ENSG00000060491.16 . nonsynonymous SNV ENSG00000060491.16:ENST00000290291.10:exon7:c.C1816T:p.P606S 20q13.33 C3L-01603 . . . . . . . . . 1.19 D T B B . N N T N 0.072 T T T 0.011 0.602 0.076 0.285 T T T T T T 0.078 1.902 0.843 N N -1.233 0.205 -1.348 0.179 0.778 0.672 0.702 0.645 0.636 . . . -3.892 -0.360 -0.727 0.000 0.001 0.002 894 . . . . OGFR 1059 1 923 149 0.138992537313433 TRUE TRUE +ENSG00000133422.13 . BCM GRCh38.p13 chr22 30940809 30940809 + T T G Missense_Mutation SNP ENST00000397641.8 exon10 c.A853C p.K285Q exonic ENSG00000133422.13 . nonsynonymous SNV ENSG00000133422.13:ENST00000397641.8:exon10:c.A853C:p.K285Q 22q12.2 C3L-01603 . . . . . . . . . 11.20 D D P B D D M T D 0.757 T T T 0.179 0.446 0.482 2.128 D T T T D D 3.509 24.700 0.995 D D 0.490 4.961 0.509 5.244 1.000 0.707 0.725 0.725 0.714 . 5.820 4.790 7.670 1.138 0.665 1.000 1.000 0.998 641 . . . . MORC2 241 0 334 62 0.156565656565657 TRUE TRUE +ENSG00000185010.15 . BCM GRCh38.p13 chrX 154966098 154966098 + C C T Missense_Mutation SNP ENST00000360256.9 exon9 c.G1315A p.G439S exonic ENSG00000185010.15 . nonsynonymous SNV ENSG00000185010.15:ENST00000360256.9:exon9:c.G1315A:p.G439S Xq28 C3L-01603 . . . . . . . . . 17.19 D D D D D D M D D 0.740 D D D 0.947 0.843 1.000 1.639 T D D D D T 3.554 24.900 0.998 D . . . . . 0.647 . . . . . 5.330 4.440 6.049 1.026 0.599 1.000 0.999 0.991 225 . . . . F8 107 0 15 10 0.4 TRUE TRUE +ENSG00000054267.22 . BCM GRCh38.p13 chr1 235229230 235229230 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000054267.22 ENST00000264183.9:exon11:c.897+1G>A . . 1q42.3 C3L-01603 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.267 33 0.994 D . 1.032 14.956 0.868 12.434 1.000 0.156 0.156 0.138 0.118 0.810 5.810 4.900 6.171 1.018 0.599 1.000 0.780 0.601 . . . . . ARID4B 87 0 14 4 0.222222222222222 NA TRUE +ENSG00000173406.15 . BCM GRCh38.p13 chr1 57014917 57014917 + G G C Silent SNP ENST00000371231.5 exon13 c.C1509G p.T503T exonic ENSG00000173406.15 . synonymous SNV ENSG00000173406.15:ENST00000371231.5:exon13:c.C1509G:p.T503T 1p32.2 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DAB1 49 1 54 18 0.25 TRUE TRUE +ENSG00000168894.10 . BCM GRCh38.p13 chr2 85595778 85595778 + C C T Silent SNP ENST00000306368.9 exon1 c.C15T p.F5F exonic ENSG00000168894.10 . synonymous SNV ENSG00000168894.10:ENST00000306368.9:exon1:c.C15T:p.F5F 2p11.2 C3L-01603 . . . . . . . . rs946189282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF181 234 0 351 69 0.164285714285714 TRUE NA +ENSG00000074047.21 . BCM GRCh38.p13 chr2 120988824 120988824 + C C T Silent SNP ENST00000452319.5 exon14 c.C2910T p.S970S exonic ENSG00000074047.21 . synonymous SNV ENSG00000074047.21:ENST00000452319.5:exon14:c.C2910T:p.S970S 2q14.2 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLI2 212 0 354 132 0.271604938271605 TRUE NA +ENSG00000138411.13 . BCM GRCh38.p13 chr2 196318808 196318808 + G G A Silent SNP ENST00000644978.2 exon9 c.C2082T p.A694A exonic ENSG00000138411.13 . synonymous SNV ENSG00000138411.13:ENST00000644978.2:exon9:c.C2082T:p.A694A 2q32.3 C3L-01603 2.727e-05 0 0 0 0 4.714e-05 0 0 rs780944656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HECW2 26 0 31 7 0.184210526315789 TRUE NA +ENSG00000178385.15 . BCM GRCh38.p13 chr2 207931114 207931114 + C C T Silent SNP ENST00000427836.8 exon5 c.G1698A p.S566S exonic ENSG00000178385.15 . synonymous SNV ENSG00000178385.15:ENST00000427836.8:exon5:c.G1698A:p.S566S 2q33.3 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHM3 124 0 157 71 0.31140350877193 TRUE TRUE +ENSG00000112319.19 . BCM GRCh38.p13 chr6 133382430 133382430 + T T G Silent SNP ENST00000355286.12 exon3 c.T72G p.S24S exonic ENSG00000112319.19 . synonymous SNV ENSG00000112319.19:ENST00000355286.12:exon3:c.T72G:p.S24S 6q23.2 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EYA4 240 0 31 13 0.295454545454545 TRUE TRUE +ENSG00000131018.24 . BCM GRCh38.p13 chr6 152221434 152221434 + G G A Silent SNP ENST00000367255.10 exon118 c.C21648T p.V7216V exonic ENSG00000131018.24 . synonymous SNV ENSG00000131018.24:ENST00000367255.10:exon118:c.C21648T:p.V7216V 6q25.2 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE1 294 0 52 6 0.103448275862069 NA TRUE +ENSG00000105877.18 . BCM GRCh38.p13 chr7 21773903 21773903 + G G T Silent SNP ENST00000409508.8 exon56 c.G9240T p.L3080L exonic ENSG00000105877.18 . synonymous SNV ENSG00000105877.18:ENST00000409508.8:exon56:c.G9240T:p.L3080L 7p15.3 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH11 182 0 30 5 0.142857142857143 TRUE TRUE +ENSG00000104760.17 . BCM GRCh38.p13 chr8 17868967 17868967 + T T C Silent SNP ENST00000427924.5 exon6 c.A540G p.E180E exonic ENSG00000104760.17 . synonymous SNV ENSG00000104760.17:ENST00000427924.5:exon6:c.A540G:p.E180E 8p22 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FGL1 102 0 21 3 0.125 TRUE NA +ENSG00000041982.16 . BCM GRCh38.p13 chr9 115062966 115062966 + G G A Silent SNP ENST00000350763.9 exon13 c.C3984T p.G1328G exonic ENSG00000041982.16 . synonymous SNV ENSG00000041982.16:ENST00000350763.9:exon13:c.C3984T:p.G1328G 9q33.1 C3L-01603 5.008e-05 0 8.74e-05 0.0002 0.0002 3.032e-05 0 0 rs554908600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60781212;OCCURENCE=1(large_intestine) TNC 187 0 260 100 0.277777777777778 TRUE TRUE +ENSG00000168447.11 . BCM GRCh38.p13 chr16 23355439 23355439 + C C T Silent SNP ENST00000343070.7 exon4 c.C726T p.G242G exonic ENSG00000168447.11 . synonymous SNV ENSG00000168447.11:ENST00000343070.7:exon4:c.C726T:p.G242G 16p12.2 C3L-01603 8.245e-06 9.643e-05 0 0 0 0 0 0 rs148125384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56302749;OCCURENCE=1(oesophagus) SCNN1B 398 0 517 182 0.260371959942775 TRUE TRUE +ENSG00000140943.17 . BCM GRCh38.p13 chr16 84081842 84081842 + C C A Silent SNP ENST00000343411.8 exon11 c.G1353T p.R451R exonic ENSG00000140943.17 . synonymous SNV ENSG00000140943.17:ENST00000343411.8:exon11:c.G1353T:p.R451R 16q23.3 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MBTPS1 38 0 55 19 0.256756756756757 TRUE TRUE +ENSG00000171817.17 . BCM GRCh38.p13 chr19 37611568 37611568 + A A G Silent SNP ENST00000316433.9 exon5 c.A288G p.E96E exonic ENSG00000171817.17 . synonymous SNV ENSG00000171817.17:ENST00000316433.9:exon5:c.A288G:p.E96E 19q13.12 C3L-01603 . . . . . . . . . 0.7 . . . . . N . . . 0.079 . . T . . 0.540 . . . T T . T 0.114 2.223 0.612 N N . . . . 0.001 0.554 0.588 0.574 0.621 . 2.040 -0.471 -1.279 -0.021 -0.209 0.000 0.009 0.027 658 . . . . ZNF540 80 0 17 4 0.19047619047619 NA TRUE +ENSG00000081853.15 . BCM GRCh38.p13 chr5 141400572 141400572 + T T A Intron SNP NA NA NA NA intronic ENSG00000081853.15;ENSG00000204956.5;ENSG00000253485.2;ENSG00000253537.3;ENSG00000253731.3;ENSG00000253767.2;ENSG00000253910.2;ENSG00000253953.2;ENSG00000254221.2;ENSG00000254245.3;ENSG00000262209.3;ENSG00000262576.3;ENSG00000276547.1 . . . 5q31.3 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA2 86 0 34 12 0.260869565217391 TRUE TRUE +ENSG00000205653.2 . BCM GRCh38.p13 chr6 203603 203603 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000205653.2 . . . 6p25.3 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL035696.1 282 0 335 116 0.257206208425721 TRUE NA +ENSG00000112306.8 . BCM GRCh38.p13 chr6 132815639 132815639 + T T A Intron SNP NA NA NA NA intronic ENSG00000112306.8 . . . 6q23.2 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPS12 138 0 33 9 0.214285714285714 TRUE NA +ENSG00000119383.19 . BCM GRCh38.p13 chr9 129137788 129137788 + G G T Intron SNP NA NA NA NA intronic ENSG00000119383.19 . . . 9q34.11 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPA 144 0 206 74 0.264285714285714 NA TRUE +ENSG00000238965.1 . BCM GRCh38.p13 chr11 111929879 111929879 + T T G IGR SNP NA NA NA NA intergenic ENSG00000238965.1;ENSG00000150764.14 dist=1371;dist=7464 . . 11q23.1 C3L-01603 . . . . . . . . . 2.14 D T . . . N . T N 0.242 T T D 0.230 0.541 0.776 . . . T T T T 2.016 19.380 0.949 N N -0.276 1.674 -0.189 1.813 0.811 0.554 0.547 0.547 0.568 . 5.200 4.010 1.006 1.138 0.609 0.590 0.994 0.943 90 . . . . RNA5SP351 236 0 75 15 0.166666666666667 TRUE TRUE +ENSG00000010219.13 . BCM GRCh38.p13 chr12 4612758 4612758 + G G A Intron SNP NA NA NA NA intronic ENSG00000010219.13;ENSG00000272921.1 . . . 12p13.32 C3L-01603 8.746e-06 0 0 0 0 0 0 6.193e-05 rs752395363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYRK4 193 0 164 53 0.244239631336406 TRUE NA +ENSG00000199960.1 . BCM GRCh38.p13 chr15 25194933 25194933 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199960.1 . . . 15q11.2 C3L-01603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD115-14 180 0 215 80 0.271186440677966 TRUE NA +ENSG00000261067.7 . BCM GRCh38.p13 chr16 28984357 28984357 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000261067.7 . . . 16p11.2 C3L-01603 0 0 0 0 0 0 0 0 rs748746757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC109460.3 210 0 317 84 0.209476309226933 TRUE NA +ENSG00000209482.1 . BCM GRCh38.p13 chr22 39315266 39315266 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000209482.1 . . . 22q13.1 C3L-01603 3.342e-05 0 0.0003 0 0 0 0 0 rs377149797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99335127;OCCURENCE=1(stomach) SNORD83A 287 0 414 101 0.196116504854369 TRUE NA +ENSG00000204478.9 . BCM GRCh38.p13 chr1 13418168 13418168 + T T A Missense_Mutation SNP ENST00000316412.9 exon3 c.T334A p.F112I exonic ENSG00000204478.9 . nonsynonymous SNV ENSG00000204478.9:ENST00000316412.9:exon3:c.T334A:p.F112I 1p36.21 C3L-01607 . . . . . . . . . 5.17 D D . . N N . T D 0.492 T T T 0.079 0.807 0.040 . T T T T D D 2.957 23.300 0.986 N N -0.118 2.120 -0.289 1.587 0.000 0.487 0.574 0.574 0.564 . 1.500 1.500 1.566 0.736 0.588 0.972 0.101 0.050 982 . . . . PRAMEF20 394 0 530 41 0.0718038528896672 TRUE TRUE +ENSG00000131914.11 . BCM GRCh38.p13 chr1 26425345 26425345 + G G A Missense_Mutation SNP ENST00000326279.11 exon3 c.G271A p.E91K exonic ENSG00000131914.11 . nonsynonymous SNV ENSG00000131914.11:ENST00000326279.11:exon3:c.G271A:p.E91K 1p36.11 C3L-01607 . . . . . . . . . 15.20 D D D D N D M T D 0.922 T T T 0.557 0.599 0.840 1.472 D D D D D D 3.855 26.100 0.999 D D 0.891 10.822 0.860 12.153 1.000 0.722 0.590 0.699 0.530 . 5.080 5.080 9.943 1.172 0.676 1.000 0.999 0.982 393 Cold-shock_protein,_DNA-binding;Cold_shock_domain . . . LIN28A 228 0 170 31 0.154228855721393 TRUE TRUE +ENSG00000126705.15 . BCM GRCh38.p13 chr1 27548478 27548478 + G G T Missense_Mutation SNP ENST00000673934.1 exon8 c.C3638A p.S1213Y exonic ENSG00000126705.15 . nonsynonymous SNV ENSG00000126705.15:ENST00000673934.1:exon8:c.C3638A:p.S1213Y 1p36.11 C3L-01607 . . . . . . . . . 10.20 D T D D N D L T N 0.667 T T T 0.314 0.233 0.360 1.552 D T D D D T 3.945 26.600 0.991 D D 0.597 5.892 0.601 6.235 1.000 0.696 0.654 0.723 0.636 . 5.530 5.530 9.445 1.161 0.604 1.000 0.975 0.982 421 . . . . AHDC1 135 0 124 26 0.173333333333333 TRUE TRUE +ENSG00000187889.13 . BCM GRCh38.p13 chr1 56744171 56744171 + C C T Missense_Mutation SNP ENST00000343433.7 exon10 c.G1483A p.E495K exonic ENSG00000187889.13 . nonsynonymous SNV ENSG00000187889.13:ENST00000343433.7:exon10:c.G1483A:p.E495K 1p32.2 C3L-01607 . . . . . . . . . 3.18 T D D P N N . T N 0.416 T T T 0.105 0.280 0.166 0.137 . T T T D T 2.947 23.300 0.998 N N 0.073 2.781 -0.055 2.182 0.011 0.487 0.574 0.574 0.564 . 4.290 4.290 3.030 1.026 0.599 0.145 0.531 0.367 945 . . . . FYB2 157 0 142 9 0.0596026490066225 TRUE TRUE +ENSG00000143126.8 . BCM GRCh38.p13 chr1 109273459 109273459 + C C T Missense_Mutation SNP ENST00000271332.4 exon33 c.C8533T p.P2845S exonic ENSG00000143126.8 . nonsynonymous SNV ENSG00000143126.8:ENST00000271332.4:exon33:c.C8533T:p.P2845S 1p13.3 C3L-01607 . . . . . . . . . 5.19 T T B B . D L T D 0.078 T T T 0.138 0.262 0.698 0.383 T T T T D D 2.359 21.900 0.989 D N -0.163 1.982 0.005 2.377 1.000 0.718 0.588 0.571 0.605 . 4.440 4.440 3.745 0.952 0.511 0.998 0.998 0.991 674 . . . . CELSR2 215 0 200 29 0.126637554585153 TRUE NA +ENSG00000143373.18 . BCM GRCh38.p13 chr1 151290222 151290222 + T T C Missense_Mutation SNP ENST00000324048.9 exon8 c.T3065C p.V1022A exonic ENSG00000143373.18 . nonsynonymous SNV ENSG00000143373.18:ENST00000324048.9:exon8:c.T3065C:p.V1022A 1q21.3 C3L-01607 . . . . . . . . . 8.20 D D D P U D M T N 0.682 T T T 0.163 0.579 0.282 1.139 D T T T D T 3.920 26.500 0.998 D N 0.430 4.536 0.430 4.577 1.000 0.672 0.698 0.698 0.711 . 5.150 5.150 3.887 1.138 0.609 1.000 1.000 0.991 91 . . . . ZNF687 199 0 215 37 0.146825396825397 TRUE TRUE +ENSG00000116580.18 . BCM GRCh38.p13 chr1 155752437 155752437 + A A G Missense_Mutation SNP ENST00000368331.5 exon30 c.T5996C p.V1999A exonic ENSG00000116580.18 . nonsynonymous SNV ENSG00000116580.18:ENST00000368331.5:exon30:c.T5996C:p.V1999A 1q22 C3L-01607 . . . . . . . . . 0.20 T T B B N N N T N 0.094 T T T 0.027 0.132 0.147 1.649 T T T T T T -0.020 1.218 0.826 N N -1.209 0.220 -1.034 0.448 0.000 0.707 0.725 0.702 0.636 . 4.910 2.020 0.036 0.235 -0.142 0.000 0.976 0.658 68 . . . . GON4L 85 0 125 33 0.208860759493671 NA TRUE +ENSG00000132693.12 . BCM GRCh38.p13 chr1 159713761 159713761 + C C G Missense_Mutation SNP ENST00000255030.9 exon2 c.G439C p.A147P exonic ENSG00000132693.12 . nonsynonymous SNV ENSG00000132693.12:ENST00000255030.9:exon2:c.G439C:p.A147P 1q23.2 C3L-01607 . . . . . . . . . 0.20 T T B B N N N T N 0.058 T T T 0.074 0.533 0.485 0.031 T T T T T T -0.234 0.432 0.672 N N -2.086 0.006 -2.150 0.006 0.463 0.487 0.574 0.574 0.564 . 4.730 -9.470 -1.462 -1.601 -0.834 0.000 0.002 0.658 915 . . . . CRP 362 0 353 74 0.173302107728337 TRUE TRUE +ENSG00000117501.14 . BCM GRCh38.p13 chr1 170996609 170996609 + T T A Missense_Mutation SNP ENST00000367758.7 exon14 c.T1440A p.D480E exonic ENSG00000117501.14 . nonsynonymous SNV ENSG00000117501.14:ENST00000367758.7:exon14:c.T1440A:p.D480E 1q24.3 C3L-01607 . . . . . . . . . 0.20 T T B B N N N T N 0.134 T T T 0.059 0.411 0.185 0.053 T T T T T T -1.443 0.001 0.302 N N -1.646 0.046 -1.768 0.039 0.976 0.487 0.574 0.574 0.564 . 5.750 -10.600 -1.801 -2.941 -1.599 0.000 0.000 0.000 836 . . . . MROH9 251 0 170 39 0.186602870813397 TRUE TRUE +ENSG00000172086.9 . BCM GRCh38.p13 chr2 88028124 88028124 + C C G Missense_Mutation SNP ENST00000347055.4 exon4 c.G440C p.S147T exonic ENSG00000172086.9 . nonsynonymous SNV ENSG00000172086.9:ENST00000347055.4:exon4:c.G440C:p.S147T 2p11.2 C3L-01607 . . . . . . . . . 1.20 T T B B N N M T N 0.125 T T T 0.013 0.257 0.205 0.165 T T T T T T 1.351 14.750 0.682 N N -0.858 0.575 -0.814 0.739 1.000 0.706 0.663 0.710 0.714 . 5.830 2.500 0.688 -0.428 -0.218 0.943 0.007 0.511 964 . . . . KRCC1 249 0 221 34 0.133333333333333 TRUE TRUE +ENSG00000144229.12 . BCM GRCh38.p13 chr2 137663386 137663386 + G G A Missense_Mutation SNP ENST00000409968.6 exon26 c.G4462A p.G1488R exonic ENSG00000144229.12 . nonsynonymous SNV ENSG00000144229.12:ENST00000409968.6:exon26:c.G4462A:p.G1488R 2q22.1 C3L-01607 . . . . . . . . . 11.17 T T . . D D . T D 0.859 T T D 0.449 . 0.628 0.166 D T D D D D 3.766 25.700 0.998 D D 0.778 8.367 0.813 10.525 1.000 0.554 0.574 0.602 0.564 . 6.020 6.020 9.477 1.155 0.676 1.000 0.996 0.974 911 . . . . THSD7B 129 1 75 18 0.193548387096774 TRUE TRUE +ENSG00000073737.16 . BCM GRCh38.p13 chr2 169083399 169083399 + G G C Missense_Mutation SNP ENST00000602501.5 exon6 c.G384C p.E128D exonic ENSG00000073737.16 . nonsynonymous SNV ENSG00000073737.16:ENST00000602501.5:exon6:c.G384C:p.E128D 2q31.1 C3L-01607 . . . . . . . . . 2.20 T T B B N D N D N 0.184 T T T 0.156 0.429 0.747 . T T T T T T 0.746 8.877 0.984 N N -0.952 0.457 -0.855 0.682 1.000 0.495 0.617 0.547 0.564 . 5.820 -2.140 -0.733 -0.184 -0.127 0.033 0.998 0.994 838 . . . . DHRS9 294 0 244 48 0.164383561643836 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146559 10146562 + TGGT TGGT - Frame_Shift_Del DEL ENST00000256474.3 exon2 c.386_389del p.V130Tfs*28 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon2:c.386_389del:p.V130Tfs*28 3p25.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 432 1 300 62 0.171270718232044 TRUE TRUE +ENSG00000144596.13 . BCM GRCh38.p13 chr3 14521710 14521710 + G G C Missense_Mutation SNP ENST00000621039.5 exon7 c.C644G p.A215G exonic ENSG00000144596.13 . nonsynonymous SNV ENSG00000144596.13:ENST00000621039.5:exon7:c.C644G:p.A215G 3p25.1 C3L-01607 . . . . . . . . . 4.7 . D . . . . . . . 0.568 . . . . . 0.712 . T T D D . T 4.071 27.500 0.893 D . . . . . 1.000 0.162 0.060 0.175 0.059 0.973 5.340 5.340 7.926 1.028 0.618 1.000 0.914 0.966 900 PDZ_domain . . . GRIP2 159 0 102 9 0.0810810810810811 TRUE TRUE +ENSG00000181061.13 . BCM GRCh38.p13 chr3 42786126 42786126 + A A - Frame_Shift_Del DEL ENST00000321331.11 exon3 c.134delT p.L45Yfs*4 exonic ENSG00000181061.13 . frameshift deletion ENSG00000181061.13:ENST00000321331.11:exon3:c.134delT:p.L45Yfs*4 3p22.1 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIGD1A 243 0 161 40 0.199004975124378 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52576628 52576628 + T T G Missense_Mutation SNP ENST00000296302.11 exon22 c.A3604C p.T1202P exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon22:c.A3604C:p.T1202P 3p21.1 C3L-01607 . . . . . . . . . 20.20 D D D D D D M D D 0.698 D D D 0.891 0.590 0.924 1.385 D D D D D D 4.083 27.600 0.997 D D 0.895 10.921 0.838 11.347 1.000 0.732 0.725 0.744 0.728 . 5.620 5.620 8.017 1.138 0.609 1.000 0.998 0.985 32 Bromo_adjacent_homology_(BAH)_domain . . . PBRM1 245 0 141 32 0.184971098265896 TRUE TRUE +ENSG00000114439.19 . BCM GRCh38.p13 chr3 107716728 107716728 + G G A Missense_Mutation SNP ENST00000325805.13 exon5 c.G284A p.R95H exonic ENSG00000114439.19 . nonsynonymous SNV ENSG00000114439.19:ENST00000325805.13:exon5:c.G284A:p.R95H 3q13.12 C3L-01607 8.243e-06 0 0 0.0001 0 0 0 0 rs772688060 20.20 D D D D D D M D D 0.820 D D D 0.964 0.884 0.982 0.727 D D D D D D 4.341 29.900 1.000 D D 0.870 10.310 0.829 11.052 1.000 0.707 0.725 0.693 0.714 . 5.060 5.060 9.602 1.176 0.618 1.000 1.000 0.997 879 High_mobility_group_box_domain . . ID=COSV57881501;OCCURENCE=1(skin) BBX 292 0 198 69 0.258426966292135 TRUE TRUE +ENSG00000082684.16 . BCM GRCh38.p13 chr3 122926431 122926431 + G G A Missense_Mutation SNP ENST00000357599.8 exon9 c.C1097T p.P366L exonic ENSG00000082684.16 . nonsynonymous SNV ENSG00000082684.16:ENST00000357599.8:exon9:c.C1097T:p.P366L 3q21.1 C3L-01607 8.565e-06 0 0 0 0 1.548e-05 0 0 rs149019778 13.20 D T D D D D M T D 0.784 T T D 0.302 . 0.712 1.067 D T T T D D 3.850 26.100 0.999 D D 0.664 6.646 0.563 5.786 1.000 0.696 0.590 0.723 0.542 . 4.500 3.620 8.140 1.176 0.676 1.000 0.694 0.787 620 Sema_domain . . . SEMA5B 160 0 141 10 0.0662251655629139 TRUE NA +ENSG00000017260.19 . BCM GRCh38.p13 chr3 130996682 130996682 + G G A Missense_Mutation SNP ENST00000510168.5 exon24 c.G2129A p.S710N exonic ENSG00000017260.19 . nonsynonymous SNV ENSG00000017260.19:ENST00000510168.5:exon24:c.G2129A:p.S710N 3q22.1 C3L-01607 . . . . . . . . . 15.20 D T D D D D N D D 0.735 T T D 0.507 0.792 0.754 . D D D T D D 4.115 27.900 0.997 D D 0.689 6.968 0.761 9.053 1.000 0.732 0.744 0.744 0.728 . 5.640 5.640 10.003 1.176 0.618 1.000 1.000 0.998 617 . . . . ATP2C1 302 0 198 41 0.171548117154812 TRUE TRUE +ENSG00000145198.14 . BCM GRCh38.p13 chr3 184233349 184233349 + C C T Missense_Mutation SNP ENST00000426955.6 exon3 c.C482T p.P161L exonic ENSG00000145198.14 . nonsynonymous SNV ENSG00000145198.14:ENST00000426955.6:exon3:c.C482T:p.P161L 3q27.1 C3L-01607 . . . . . . . . . 2.17 D T . . . D L T N 0.093 T T T 0.021 0.251 0.040 0.623 T T T T T T 0.917 10.620 0.848 N N -1.203 0.225 -1.252 0.242 0.065 0.598 0.590 0.596 0.530 . 4.240 -2.570 0.247 -0.336 -0.202 0.010 0.292 0.609 884 . . . ID=COSV99891671;OCCURENCE=1(large_intestine) VWA5B2 101 0 85 5 0.0555555555555556 TRUE NA +ENSG00000113889.14 . BCM GRCh38.p13 chr3 186725240 186725240 + G G A Missense_Mutation SNP ENST00000644859.2 exon4 c.G544A p.V182I exonic ENSG00000113889.14 . nonsynonymous SNV ENSG00000113889.14:ENST00000644859.2:exon4:c.G544A:p.V182I 3q27.3 C3L-01607 . . . . . . . . . 4.20 T T P P N D L T N 0.177 T T T 0.055 0.635 0.430 0.226 T T T T D T 2.571 22.600 0.992 D D -0.061 2.303 0.005 2.375 0.001 0.500 0.590 0.624 0.542 . 4.920 4.040 1.879 1.176 0.676 1.000 0.967 0.963 940 Kininogen-type_cystatin_domain;Cystatin_domain . . . KNG1 247 1 186 39 0.173333333333333 TRUE TRUE +ENSG00000113558.19 . BCM GRCh38.p13 chr5 134158541 134158541 + C C G Missense_Mutation SNP ENST00000353411.11 exon5 c.G370C p.A124P exonic ENSG00000113558.19 . nonsynonymous SNV ENSG00000113558.19:ENST00000353411.11:exon5:c.G370C:p.A124P 5q31.1 C3L-01607 . . . . . . . . . 17.20 D D D D U D H T D 0.944 D D D 0.605 0.953 0.954 3.211 D T D D D D 4.018 27.100 0.998 D D 1.052 15.628 0.938 15.484 1.000 0.707 0.725 0.702 0.714 . 5.220 5.220 7.336 1.026 0.599 1.000 1.000 0.999 170 SKP1_component,_dimerisation . . . SKP1 408 0 404 61 0.131182795698925 TRUE TRUE +ENSG00000081842.18 . BCM GRCh38.p13 chr5 140828213 140828213 + A A G Missense_Mutation SNP ENST00000529310.6 exon1 c.A122G p.H41R exonic ENSG00000081842.18 . nonsynonymous SNV ENSG00000081842.18:ENST00000529310.6:exon1:c.A122G:p.H41R 5q31.3 C3L-01607 . . . . . . . . . 2.19 T T B B U D N T D 0.215 T T T 0.138 0.396 0.459 1.205 . T T T T T 2.709 22.800 0.872 N N -0.568 1.046 -0.509 1.187 0.009 0.598 0.547 0.576 0.639 . 3.870 3.870 -0.199 1.312 0.567 0.000 1.000 0.939 29 Cadherin,_N-terminal . . . PCDHA6 264 0 305 52 0.145658263305322 NA TRUE +ENSG00000170613.4 . BCM GRCh38.p13 chr5 157162937 157162937 + C C G Missense_Mutation SNP ENST00000302938.4 exon2 c.G1328C p.S443T exonic ENSG00000170613.4 . nonsynonymous SNV ENSG00000170613.4:ENST00000302938.4:exon2:c.G1328C:p.S443T 5q33.3 C3L-01607 . . . . . . . . . 2.20 T T B B N N M T N 0.114 T T T 0.007 0.207 0.092 0.119 T T T T T T 1.581 16.250 0.949 D N -0.167 1.970 -0.084 2.092 0.161 0.487 0.547 0.574 0.564 . 4.640 3.760 0.373 1.026 0.599 0.987 0.996 0.785 555 . . . . FAM71B 254 0 280 38 0.119496855345912 TRUE TRUE +ENSG00000198755.11 . BCM GRCh38.p13 chr6 35468860 35468860 + C C G Missense_Mutation SNP ENST00000322203.7 exon2 c.C67G p.R23G exonic ENSG00000198755.11 . nonsynonymous SNV ENSG00000198755.11:ENST00000322203.7:exon2:c.C67G:p.R23G 6p21.31 C3L-01607 . . . . . . . . . 3.20 T T B B N D N T N 0.412 T T T 0.094 0.422 0.508 1.292 T T T T T T 3.251 24.000 0.970 D D -0.311 1.586 -0.069 2.138 1.000 0.442 0.522 0.522 0.273 . 5.240 5.240 1.269 0.959 0.465 1.000 1.000 0.971 604 . . . . RPL10A 286 0 246 53 0.177257525083612 TRUE TRUE +ENSG00000214736.7 . BCM GRCh38.p13 chr6 41787735 41787735 + C C G Missense_Mutation SNP ENST00000398884.7 exon1 c.C38G p.S13W exonic ENSG00000214736.7 . nonsynonymous SNV ENSG00000214736.7:ENST00000398884.7:exon1:c.C38G:p.S13W 6p21.1 C3L-01607 . . . . . . . . . 5.18 D T P B N N . . D 0.431 T T D 0.077 0.237 0.287 . T T T T D T 1.949 18.870 0.937 N D -0.219 1.825 -0.320 1.524 1.000 0.442 0.522 0.522 0.562 . 5.250 4.350 1.871 1.026 0.599 0.004 0.004 0.097 456 . . . ID=COSV59253244;OCCURENCE=1(breast) TOMM6 169 0 172 12 0.0652173913043478 TRUE TRUE +ENSG00000135298.14 . BCM GRCh38.p13 chr6 68936530 68936530 + G G A Missense_Mutation SNP ENST00000370598.6 exon5 c.G880A p.V294M exonic ENSG00000135298.14 . nonsynonymous SNV ENSG00000135298.14:ENST00000370598.6:exon5:c.G880A:p.V294M 6q12 C3L-01607 8.43e-06 0 0 0 0 1.523e-05 0 0 rs747355273 8.19 D D P P D D . T N 0.440 T T T 0.336 0.438 0.129 0.497 T T T T D D 4.030 27.200 0.998 D D 0.576 5.689 0.657 7.022 1.000 0.554 0.574 0.618 0.564 . 5.420 5.420 9.988 1.176 0.618 1.000 1.000 0.999 943 . . . . ADGRB3 131 1 106 29 0.214814814814815 TRUE NA +ENSG00000203734.12 . BCM GRCh38.p13 chr6 138838365 138838365 + T T A Missense_Mutation SNP ENST00000541398.6 exon5 c.T193A p.W65R exonic ENSG00000203734.12 . nonsynonymous SNV ENSG00000203734.12:ENST00000541398.6:exon5:c.T193A:p.W65R 6q24.1 C3L-01607 . . . . . . . . . 6.19 D D P B . D L T D 0.458 T T T 0.116 0.380 0.488 0.292 T T T T D T 3.131 23.700 0.962 D N -0.092 2.199 0.051 2.542 0.170 0.487 0.574 0.547 0.564 . 5.730 4.520 2.139 1.055 0.609 0.995 1.000 0.999 921 . . . . ECT2L 127 0 112 21 0.157894736842105 TRUE TRUE +ENSG00000106392.11 . BCM GRCh38.p13 chr7 7234477 7234477 + A A C Missense_Mutation SNP ENST00000436587.7 exon2 c.A158C p.D53A exonic ENSG00000106392.11 . nonsynonymous SNV ENSG00000106392.11:ENST00000436587.7:exon2:c.A158C:p.D53A 7p21.3 C3L-01607 . . . . . . . . . 6.20 T D P B D D M T N 0.488 T T T 0.247 0.134 0.442 0.126 T T T T D T 2.217 21.000 0.961 D N -0.234 1.784 -0.085 2.089 0.842 0.706 0.710 0.688 0.613 . 4.060 4.060 3.722 1.312 0.756 0.997 1.000 1.000 849 . . . . C1GALT1 260 0 257 50 0.162866449511401 NA TRUE +ENSG00000005108.16 . BCM GRCh38.p13 chr7 11462046 11462046 + C C G Missense_Mutation SNP ENST00000423059.9 exon10 c.G2466C p.K822N exonic ENSG00000005108.16 . nonsynonymous SNV ENSG00000005108.16:ENST00000423059.9:exon10:c.G2466C:p.K822N 7p21.3 C3L-01607 . . . . . . . . . 7.20 T D B B D D M T N 0.414 T T T 0.092 0.495 0.110 0.049 T T T T D D 2.231 21.100 0.959 D N -0.793 0.664 -0.733 0.853 0.328 0.615 0.574 0.608 0.655 . 5.270 0.170 0.585 -0.978 -0.780 0.998 0.260 0.190 686 . . . . THSD7A 125 0 107 20 0.15748031496063 TRUE TRUE +ENSG00000186472.20 . BCM GRCh38.p13 chr7 82950749 82950749 + A A T Missense_Mutation SNP ENST00000333891.14 exon6 c.T9839A p.M3280K exonic ENSG00000186472.20 . nonsynonymous SNV ENSG00000186472.20:ENST00000333891.14:exon6:c.T9839A:p.M3280K 7q21.11 C3L-01607 . . . . . . . . . 7.17 D D P B . D . T D 0.870 T T T 0.300 . 0.208 0.048 T . T T T D 3.088 23.600 0.877 D D 0.359 4.102 0.455 4.770 1.000 0.638 0.574 0.653 0.564 . 5.290 5.290 6.283 1.312 0.756 1.000 1.000 0.999 888 . . . . PCLO 270 0 211 37 0.149193548387097 TRUE TRUE +ENSG00000104219.13 . BCM GRCh38.p13 chr8 17198387 17198387 + T T G Missense_Mutation SNP ENST00000262096.13 exon6 c.T450G p.I150M exonic ENSG00000104219.13 . nonsynonymous SNV ENSG00000104219.13:ENST00000262096.13:exon6:c.T450G:p.I150M 8p22 C3L-01607 . . . . . . . . . 9.20 D D B B D D M T N 0.594 T T D 0.248 0.751 0.092 0.035 T T T T D D 2.426 22.200 0.978 D N -0.267 1.697 -0.241 1.692 0.218 0.732 0.634 0.710 0.728 . 3.910 2.730 -0.188 0.173 -0.258 0.098 1.000 0.974 760 Palmitoyltransferase,_DHHC_domain . . . ZDHHC2 214 0 195 34 0.148471615720524 TRUE TRUE +ENSG00000170122.5 . BCM GRCh38.p13 chr9 118098 118098 + G G C Missense_Mutation SNP ENST00000382500.3 exon1 c.C22G p.R8G exonic ENSG00000170122.5 . nonsynonymous SNV ENSG00000170122.5:ENST00000382500.3:exon1:c.C22G:p.R8G 9p24.3 C3L-01607 . . . . . . . . . 3.20 T T B B U N L D N 0.243 T D D 0.140 0.193 0.264 . T T T T T T 1.485 15.640 0.894 N N -1.143 0.270 -1.229 0.259 0.076 0.598 0.374 0.608 0.639 . 2.310 -1.070 -0.150 0.972 0.489 0.000 0.003 0.016 940 . . . . FOXD4 360 0 389 48 0.109839816933638 NA TRUE +ENSG00000148498.16 . BCM GRCh38.p13 chr10 34382792 34382792 + T T C Missense_Mutation SNP ENST00000374789.8 exon9 c.A1147G p.S383G exonic ENSG00000148498.16 . nonsynonymous SNV ENSG00000148498.16:ENST00000374789.8:exon9:c.A1147G:p.S383G 10p11.21 C3L-01607 . . . . . . . . . 3.20 T T B B N D M T N 0.311 T T T 0.054 0.328 0.503 0.382 T T T T T T 1.571 16.190 0.983 D N -0.301 1.611 -0.210 1.762 1.000 0.707 0.634 0.725 0.714 . 5.870 3.540 3.631 0.163 0.665 1.000 0.675 0.246 858 . . . . PARD3 357 0 304 77 0.202099737532808 TRUE TRUE +ENSG00000151208.17 . BCM GRCh38.p13 chr10 77843676 77843676 + G G C Missense_Mutation SNP ENST00000372391.7 exon6 c.C895G p.L299V exonic ENSG00000151208.17 . nonsynonymous SNV ENSG00000151208.17:ENST00000372391.7:exon6:c.C895G:p.L299V 10q22.3 C3L-01607 . . . . . . . . . 4.19 T D P B N D L T N 0.688 T T T 0.070 0.207 0.629 1.597 T T T T D . 2.043 19.580 0.997 D N 0.413 4.425 0.470 4.896 1.000 0.707 0.654 0.644 0.714 . 5.580 5.580 1.949 1.164 0.662 0.990 0.993 0.951 673 . . . . DLG5 209 0 214 41 0.16078431372549 TRUE TRUE +ENSG00000059915.17 . BCM GRCh38.p13 chr10 102415044 102415044 + T T C Missense_Mutation SNP ENST00000020673.6 exon4 c.A943G p.I315V exonic ENSG00000059915.17 . nonsynonymous SNV ENSG00000059915.17:ENST00000020673.6:exon4:c.A943G:p.I315V 10q24.32 C3L-01607 . . . . . . . . . 5.20 D T P B N N L T N 0.152 T T T 0.068 0.101 0.220 0.728 T T T T D D 2.687 22.800 0.997 D D 0.124 2.982 0.242 3.396 0.918 0.696 0.610 0.723 0.639 . 5.310 5.310 3.964 1.066 0.580 1.000 0.966 0.758 750 . . . . PSD 76 0 71 12 0.144578313253012 TRUE TRUE +ENSG00000197748.13 . BCM GRCh38.p13 chr10 104172501 104172501 + T T G Missense_Mutation SNP ENST00000357060.8 exon20 c.A2495C p.E832A exonic ENSG00000197748.13 . nonsynonymous SNV ENSG00000197748.13:ENST00000357060.8:exon20:c.A2495C:p.E832A 10q25.1 C3L-01607 . . . . . . . . . 1.19 T D B B N N . T N 0.083 T T T 0.057 0.111 0.150 0.139 T T T T T T 1.441 15.360 0.868 N N -0.666 0.871 -0.714 0.879 0.000 0.487 0.590 0.574 0.542 . 5.590 -1.990 1.888 1.138 0.665 0.081 0.813 0.940 81 . . . . CFAP43 212 1 183 29 0.136792452830189 TRUE TRUE +ENSG00000189431.8 . BCM GRCh38.p13 chr11 13010246 13010246 + C C G Missense_Mutation SNP ENST00000529419.3 exon1 c.C670G p.R224G exonic ENSG00000189431.8 . nonsynonymous SNV ENSG00000189431.8:ENST00000529419.3:exon1:c.C670G:p.R224G 11p15.3 C3L-01607 . . . . . . . . rs994986909 6.10 . D D P . . L . . 0.434 . . . . . 0.173 . T T D D . D 4.057 27.400 0.951 D . . . . . 1.000 0.114 0.166 0.184 0.166 0.302 4.340 4.340 2.474 0.948 0.452 0.978 0.983 0.943 898 . . . . RASSF10 111 0 120 10 0.0769230769230769 TRUE NA +ENSG00000110768.12 . BCM GRCh38.p13 chr11 18358591 18358591 + G G A Missense_Mutation SNP ENST00000265963.9 exon13 c.G1418A p.R473Q exonic ENSG00000110768.12 . nonsynonymous SNV ENSG00000110768.12:ENST00000265963.9:exon13:c.G1418A:p.R473Q 11p15.1 C3L-01607 1.648e-05 9.614e-05 8.637e-05 0 0 0 0 0 rs551071012 14.20 D D P P D D M T D 0.970 T T D 0.386 . 0.891 0.815 T D D D D D 4.389 31 0.999 D D 0.725 7.479 0.785 9.689 1.000 0.707 0.725 0.725 0.714 . 6.040 6.040 9.559 1.176 0.676 1.000 0.998 0.987 424 . . . ID=COSV56377387;OCCURENCE=2(large_intestine) GTF2H1 231 0 226 30 0.1171875 TRUE TRUE +ENSG00000168003.16 . BCM GRCh38.p13 chr11 62888511 62888511 + G G T Missense_Mutation SNP ENST00000377890.6 exon12 c.G1711T p.D571Y exonic ENSG00000168003.16 . nonsynonymous SNV ENSG00000168003.16:ENST00000377890.6:exon12:c.G1711T:p.D571Y 11q12.3 C3L-01607 . . . . . . . . rs931124662 10.20 T T D P N N M D D 0.291 D D D 0.265 0.495 0.749 1.475 T D T T D D 2.575 22.600 0.738 N N -0.743 0.741 -0.858 0.677 1.000 0.722 0.698 0.702 0.735 . 4.790 -0.980 -0.153 -0.559 -0.644 0.000 0.004 0.033 804 Glycosyl_hydrolase,_C-terminal_(DUF3459) . . . SLC3A2 204 0 188 45 0.1931330472103 TRUE NA +ENSG00000149257.15 . BCM GRCh38.p13 chr11 75566914 75566914 + A A T Missense_Mutation SNP ENST00000358171.8 exon2 c.A565T p.T189S exonic ENSG00000149257.15 . nonsynonymous SNV ENSG00000149257.15:ENST00000358171.8:exon2:c.A565T:p.T189S 11q13.5 C3L-01607 . . . . . . . . . 14.20 D D P B D D M D N 0.656 D D D 0.605 0.622 0.932 0.508 T T D T D D 2.817 23.100 0.941 D D 0.342 4.001 0.389 4.279 1.000 0.722 0.698 0.696 0.735 . 4.660 4.660 6.218 1.312 0.756 1.000 1.000 0.999 714 Serpin_H1_inhibitory_domain;Serpin_domain . . . SERPINH1 192 0 160 34 0.175257731958763 TRUE NA +ENSG00000149582.16 . BCM GRCh38.p13 chr11 118534298 118534300 + AAC AAC - In_Frame_Del DEL ENST00000313236.10 exon8 c.970_972del p.N325del exonic ENSG00000149582.16 . nonframeshift deletion ENSG00000149582.16:ENST00000313236.10:exon8:c.970_972del:p.N325del 11q23.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM25 258 0 208 39 0.157894736842105 TRUE TRUE +ENSG00000167548.15 . BCM GRCh38.p13 chr12 49044248 49044248 + G G T Missense_Mutation SNP ENST00000301067.11 exon21 c.C5140A p.P1714T exonic ENSG00000167548.15 . nonsynonymous SNV ENSG00000167548.15:ENST00000301067.11:exon21:c.C5140A:p.P1714T 12q13.12 C3L-01607 . . . . . . . . . 3.19 T . B B N N L T N 0.540 T T D 0.341 0.170 0.274 1.430 T T T T D T 2.245 21.200 0.945 D N 0.018 2.577 0.161 3.000 0.978 0.707 0.702 0.725 0.714 . 4.820 4.820 3.037 1.176 0.676 1.000 1.000 0.997 377 . . . . KMT2D 174 0 127 23 0.153333333333333 TRUE TRUE +ENSG00000135436.8 . BCM GRCh38.p13 chr12 49603224 49603224 + A A T Missense_Mutation SNP ENST00000257894.2 exon3 c.T466A p.C156S exonic ENSG00000135436.8 . nonsynonymous SNV ENSG00000135436.8:ENST00000257894.2:exon3:c.T466A:p.C156S 12q13.12 C3L-01607 . . . . . . . . . 7.20 T D B P D D M T N 0.838 T T T 0.114 0.501 0.331 0.654 T T T T D T 3.541 24.800 0.973 D D 0.302 3.792 0.336 3.931 0.063 0.622 0.588 0.492 0.568 . 4.740 4.740 4.131 1.298 0.756 1.000 1.000 0.958 239 . . . . FAM186B 455 0 409 69 0.144351464435146 TRUE TRUE +ENSG00000092203.15 . BCM GRCh38.p13 chr14 21487487 21487487 + G G A Missense_Mutation SNP ENST00000448790.7 exon3 c.G112A p.E38K exonic ENSG00000092203.15 . nonsynonymous SNV ENSG00000092203.15:ENST00000448790.7:exon3:c.G112A:p.E38K 14q11.2 C3L-01607 . . . . . . . . . 16.20 D D D D D D M T D 0.825 T T D 0.270 0.387 0.263 . D T D D D D 4.290 29.500 0.999 D D 0.823 9.240 0.807 10.347 1.000 0.707 0.725 0.644 0.714 . 5.380 5.380 7.885 1.156 0.672 1.000 1.000 0.999 793 . . . . TOX4 168 0 135 16 0.105960264900662 NA TRUE +ENSG00000070367.16 . BCM GRCh38.p13 chr14 57232718 57232718 + C C A Missense_Mutation SNP ENST00000621441.5 exon10 c.G887T p.R296M exonic ENSG00000070367.16 . nonsynonymous SNV ENSG00000070367.16:ENST00000621441.5:exon10:c.G887T:p.R296M 14q22.3 C3L-01607 . . . . . . . . . 9.20 D D D P D D L T N 0.466 T T T 0.137 0.615 0.385 1.045 T T T T D D 3.304 24.100 0.958 D D 0.245 3.510 0.264 3.512 0.292 0.732 0.744 0.744 0.728 . 5.500 3.680 2.451 1.005 0.597 1.000 1.000 0.998 898 . . . ID=COSV61770803;OCCURENCE=1(lung) EXOC5 137 0 66 15 0.185185185185185 TRUE TRUE +ENSG00000165959.12 . BCM GRCh38.p13 chr14 95221737 95221737 + C C T Missense_Mutation SNP ENST00000298912.9 exon4 c.G278A p.R93Q exonic ENSG00000165959.12 . nonsynonymous SNV ENSG00000165959.12:ENST00000298912.9:exon4:c.G278A:p.R93Q 14q32.13 C3L-01607 4.121e-05 0 0.0002 0 0 0 0 0.0002 rs764773895 12.20 D D D D N D L T N 0.865 T T D 0.388 0.666 0.747 0.388 T D D D T D 4.415 31 0.999 D D 0.655 6.534 0.678 7.362 1.000 0.732 0.744 0.676 0.668 . 5.190 5.190 6.936 1.026 0.599 1.000 1.000 0.946 957 Calponin_homology_domain . . ID=COSV54190261;OCCURENCE=1(stomach) CLMN 188 1 150 13 0.0797546012269939 TRUE NA +ENSG00000128891.15 . BCM GRCh38.p13 chr15 40557268 40557268 + G G C Missense_Mutation SNP ENST00000358005.7 exon3 c.C349G p.Q117E exonic ENSG00000128891.15 . nonsynonymous SNV ENSG00000128891.15:ENST00000358005.7:exon3:c.C349G:p.Q117E 15q15.1 C3L-01607 . . . . . . . . . 8.18 D D D P N D . T N 0.431 T T T 0.178 0.378 0.215 0.815 . T T T D D 3.777 25.700 0.995 D D 0.759 8.034 0.789 9.802 1.000 0.706 0.658 0.710 0.714 . 5.700 5.700 8.990 1.176 0.676 1.000 1.000 0.998 666 . . . . CCDC32 193 0 176 25 0.124378109452736 TRUE TRUE +ENSG00000174197.16 . BCM GRCh38.p13 chr15 41766795 41766795 + G G C Missense_Mutation SNP ENST00000219905.11 exon24 c.G8713C p.E2905Q exonic ENSG00000174197.16 . nonsynonymous SNV ENSG00000174197.16:ENST00000219905.11:exon24:c.G8713C:p.E2905Q 15q15.1 C3L-01607 . . . . . . . . . 12.16 D D . . N N . D N 0.448 D D D 0.408 0.155 0.674 0.495 T . D D D D 3.629 25.100 0.997 D D 0.662 6.613 0.703 7.803 1.000 0.707 0.725 0.725 0.636 . 5.650 5.650 5.348 1.176 0.676 1.000 1.000 0.993 129 . . . . MGA 206 0 220 39 0.150579150579151 TRUE TRUE +ENSG00000137770.14 . BCM GRCh38.p13 chr15 44514599 44514599 + T T - Frame_Shift_Del DEL ENST00000260327.9 exon9 c.971delT p.Y325Mfs*2 exonic ENSG00000137770.14 . frameshift deletion ENSG00000137770.14:ENST00000260327.9:exon9:c.971delT:p.Y325Mfs*2 15q21.1 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTDSPL2 160 0 136 19 0.12258064516129 TRUE TRUE +ENSG00000137868.19 . BCM GRCh38.p13 chr15 74180901 74180901 + A A T Missense_Mutation SNP ENST00000395105.9 exon18 c.T1721A p.V574D exonic ENSG00000137868.19 . nonsynonymous SNV ENSG00000137868.19:ENST00000395105.9:exon18:c.T1721A:p.V574D 15q24.1 C3L-01607 . . . . . . . . . 16.20 D D D P N D M D D 0.701 T D D 0.600 0.335 0.751 0.412 T D D D D D 3.165 23.800 0.980 D D -0.114 2.132 -0.260 1.648 1.000 0.706 0.659 0.710 0.632 . 4.690 -3.740 1.632 0.046 0.756 1.000 0.954 0.631 808 . . . . STRA6 144 1 150 9 0.0566037735849057 TRUE TRUE +ENSG00000185518.11 . BCM GRCh38.p13 chr15 91289536 91289536 + T T C Missense_Mutation SNP ENST00000394232.5 exon12 c.T1724C p.I575T exonic ENSG00000185518.11 . nonsynonymous SNV ENSG00000185518.11:ENST00000394232.5:exon12:c.T1724C:p.I575T 15q26.1 C3L-01607 . . . . . . . . . 8.20 T D B B D D L T N 0.864 T T T 0.124 0.716 0.222 0.626 D T T T D D 2.728 22.900 0.989 D D 0.053 2.705 0.212 3.241 1.000 0.659 0.689 0.506 0.564 . 5.460 5.460 6.083 1.135 0.665 1.000 0.974 0.840 686 Major_facilitator_superfamily_domain . . . SV2B 416 1 376 64 0.145454545454545 TRUE TRUE +ENSG00000103313.12 . BCM GRCh38.p13 chr16 3254683 3254683 + C C G Missense_Mutation SNP ENST00000219596.5 exon2 c.G385C p.G129R exonic ENSG00000103313.12 . nonsynonymous SNV ENSG00000103313.12:ENST00000219596.5:exon2:c.G385C:p.G129R 16p13.3 C3L-01607 . . . . . . . . . 0.20 T T B B N N L T N 0.235 T T T 0.097 0.208 0.437 0.157 T T T T T T 0.725 8.680 0.693 N N -1.397 0.118 -1.510 0.104 1.000 0.517 0.574 0.479 0.542 . 0.430 -0.720 -0.662 -1.115 -0.567 0.008 0.000 0.002 779 . . . . MEFV 76 0 105 10 0.0869565217391304 TRUE TRUE +ENSG00000188215.10 . BCM GRCh38.p13 chr16 20860313 20860313 + C C G Missense_Mutation SNP ENST00000324344.9 exon3 c.G488C p.C163S exonic ENSG00000188215.10 . nonsynonymous SNV ENSG00000188215.10:ENST00000324344.9:exon3:c.G488C:p.C163S 16p12.3 C3L-01607 8.264e-06 0 0 0 0 0 0 6.067e-05 rs770510257 5.19 T T B B D D L . N 0.611 T T T 0.151 0.465 0.162 0.762 D T T T T T 2.264 21.300 0.921 D D -0.035 2.390 0.205 3.210 1.000 0.732 0.654 0.744 0.742 . 5.920 5.920 4.134 1.026 0.599 1.000 1.000 0.999 143 Potentiating_neddylation_domain . . . DCUN1D3 180 0 181 32 0.150234741784038 TRUE NA +ENSG00000178188.14 . BCM GRCh38.p13 chr16 28867331 28867331 + G G A Missense_Mutation SNP ENST00000322610.12 exon5 c.G940A p.A314T exonic ENSG00000178188.14 . nonsynonymous SNV ENSG00000178188.14:ENST00000322610.12:exon5:c.G940A:p.A314T 16p11.2 C3L-01607 . . . . . . . . . 12.20 D D D D N D L T N 0.493 T T D 0.407 0.353 0.519 0.603 T D D T D D 4.485 32 0.999 D D 0.419 4.464 0.404 4.385 1.000 0.707 0.702 0.725 0.714 . 4.450 4.450 3.069 1.176 0.676 1.000 0.811 0.880 289 Pleckstrin_homology_domain . . . SH2B1 151 0 166 26 0.135416666666667 TRUE TRUE +ENSG00000140968.11 . BCM GRCh38.p13 chr16 85903166 85903166 + G G A Missense_Mutation SNP ENST00000268638.10 exon2 c.G151A p.E51K exonic ENSG00000140968.11 . nonsynonymous SNV ENSG00000140968.11:ENST00000268638.10:exon2:c.G151A:p.E51K 16q24.1 C3L-01607 . . . . . . . . . 20.20 D D D D D D M D D 0.776 D D D 0.903 0.584 0.993 1.593 D D D D D D 4.453 32 0.999 D D 0.911 11.342 0.863 12.264 1.000 0.554 0.522 0.602 0.530 . 5.580 5.580 9.463 1.176 0.676 1.000 0.998 0.901 970 Interferon_regulatory_factor,_conserved_site;Interferon_regulatory_factor_DNA-binding_domain . . . IRF8 332 0 360 50 0.121951219512195 TRUE TRUE +ENSG00000140948.13 . BCM GRCh38.p13 chr16 87412928 87412928 + A A T Missense_Mutation SNP ENST00000268616.9 exon12 c.T1382A p.L461Q exonic ENSG00000140948.13 . nonsynonymous SNV ENSG00000140948.13:ENST00000268616.9:exon12:c.T1382A:p.L461Q 16q24.2 C3L-01607 . . . . . . . . . 12.19 D T D D D D M T N 0.794 T T D 0.313 0.243 0.316 0.911 T T D D D . 3.755 25.600 0.995 D D 0.451 4.674 0.420 4.500 1.000 0.732 0.627 0.744 0.714 . 5.180 5.180 8.097 1.312 0.756 1.000 0.501 0.345 835 . . . . ZCCHC14 76 0 72 13 0.152941176470588 TRUE TRUE +ENSG00000179588.9 . BCM GRCh38.p13 chr16 88514501 88514501 + C C - Frame_Shift_Del DEL ENST00000319555.8 exon4 c.383delC p.R130Gfs*9 exonic ENSG00000179588.9 . frameshift deletion ENSG00000179588.9:ENST00000319555.8:exon4:c.383delC:p.R130Gfs*9 16q24.2 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFPM1 169 0 192 28 0.127272727272727 TRUE TRUE +ENSG00000186532.12 . BCM GRCh38.p13 chr17 1800892 1800892 + C C A Missense_Mutation SNP ENST00000305513.12 exon5 c.G502T p.D168Y exonic ENSG00000186532.12 . nonsynonymous SNV ENSG00000186532.12:ENST00000305513.12:exon5:c.G502T:p.D168Y 17p13.3 C3L-01607 . . . . . . . . . 7.20 D D P P N D M T D 0.446 T T T 0.149 0.426 0.558 0.117 T T T T D T 2.787 23.000 0.994 D N 0.357 4.089 0.334 3.918 0.971 0.707 0.725 0.725 0.636 . 5.720 4.760 2.286 1.016 0.587 0.923 0.953 0.654 753 . . . . SMYD4 303 0 267 40 0.130293159609121 TRUE TRUE +ENSG00000132507.18 . BCM GRCh38.p13 chr17 7311407 7311407 + G G A Missense_Mutation SNP ENST00000336458.13 exon4 c.G328A p.E110K exonic ENSG00000132507.18 . nonsynonymous SNV ENSG00000132507.18:ENST00000336458.13:exon4:c.G328A:p.E110K 17p13.1 C3L-01607 . . . . . . . . . 12.20 D T P P D D M T D 0.756 T T D 0.293 0.577 0.628 3.010 T D D T D D 4.459 32 0.999 D D 0.585 5.779 0.599 6.215 1.000 0.722 0.672 0.699 0.735 . 4.450 4.450 9.203 1.176 0.676 1.000 1.000 0.998 565 Translation_elongation_factor,_IF5A_C-terminal . . ID=COSV100222692;OCCURENCE=1(upper_aerodigestive_tract) EIF5A 225 0 255 54 0.174757281553398 TRUE TRUE +ENSG00000108651.10 . BCM GRCh38.p13 chr17 31894978 31894978 + T T C Missense_Mutation SNP ENST00000261708.9 exon3 c.A211G p.R71G exonic ENSG00000108651.10 . nonsynonymous SNV ENSG00000108651.10:ENST00000261708.9:exon3:c.A211G:p.R71G 17q11.2 C3L-01607 . . . . . . . . . 16.20 D D D D D D M T D 0.914 D T D 0.638 0.899 0.821 0.529 T T D D D D 4.133 28.000 0.999 D D 0.749 7.855 0.644 6.816 0.999 0.732 0.744 0.725 0.714 . 5.310 5.310 3.750 1.138 0.665 1.000 1.000 0.923 939 . . . . UTP6 158 2 141 27 0.160714285714286 NA TRUE +ENSG00000178691.11 . BCM GRCh38.p13 chr17 31993318 31993318 + A A T Missense_Mutation SNP ENST00000322652.10 exon11 c.A1278T p.L426F exonic ENSG00000178691.11 . nonsynonymous SNV ENSG00000178691.11:ENST00000322652.10:exon11:c.A1278T:p.L426F 17q11.2 C3L-01607 9.162e-06 0 0 0 0 0 0 6.503e-05 rs773744548 9.20 T D D P D D M T N 0.612 T T D 0.180 0.241 0.411 2.034 T T T T D D 3.658 25.200 0.959 D N 0.156 3.114 0.146 2.929 0.000 0.732 0.744 0.651 0.714 . 5.180 2.900 1.368 1.307 0.751 1.000 1.000 1.000 969 . . . . SUZ12 246 0 179 27 0.131067961165049 TRUE NA +ENSG00000277399.5 . BCM GRCh38.p13 chr17 38329722 38329722 + - NA GT Frame_Shift_Ins INS ENST00000616987.5 exon11 c.3846_3847insAC p.P1283Tfs*19 exonic ENSG00000277399.5 . frameshift insertion ENSG00000277399.5:ENST00000616987.5:exon11:c.3846_3847insAC:p.P1283Tfs*19 17q12 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR179 NA NA NA NA NA NA NA +ENSG00000167916.5 . BCM GRCh38.p13 chr17 40700280 40700280 + T T A Missense_Mutation SNP ENST00000264651.3 exon4 c.A959T p.Q320L exonic ENSG00000167916.5 . nonsynonymous SNV ENSG00000167916.5:ENST00000264651.3:exon4:c.A959T:p.Q320L 17q21.2 C3L-01607 . . . . . . . . . 14.19 D D P P . D H T D 0.650 D D D 0.681 0.674 0.421 0.372 T T D D D D 3.467 24.600 0.995 D D 0.367 4.143 0.242 3.398 0.310 0.516 0.610 0.574 0.530 . 5.860 2.470 4.221 0.197 0.665 1.000 0.585 0.815 87 Intermediate_filament,_rod_domain . . . KRT24 151 0 171 19 0.1 TRUE TRUE +ENSG00000186868.15 . BCM GRCh38.p13 chr17 45983714 45983714 + C C T Missense_Mutation SNP ENST00000262410.9 exon6 c.C910T p.H304Y exonic ENSG00000186868.15 . nonsynonymous SNV ENSG00000186868.15:ENST00000262410.9:exon6:c.C910T:p.H304Y 17q21.31 C3L-01607 . . . . . . . . . 4.20 D T P B N D L T N 0.324 T T T 0.045 0.404 0.743 0.463 T T T T D T 2.221 21.000 0.994 D N 0.122 2.976 0.138 2.897 0.984 0.516 0.590 0.578 0.586 . 5.170 5.170 2.840 1.026 0.599 0.932 0.993 0.239 391 . . . ID=COSV99291158;OCCURENCE=1(skin) MAPT 314 0 369 53 0.125592417061611 TRUE NA +ENSG00000121101.15 . BCM GRCh38.p13 chr17 58593642 58593642 + G G - Frame_Shift_Del DEL ENST00000240361.12 exon15 c.2507delC p.P836Lfs*73 exonic ENSG00000121101.15 . frameshift deletion ENSG00000121101.15:ENST00000240361.12:exon15:c.2507delC:p.P836Lfs*73 17q22 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TEX14 223 0 173 20 0.103626943005181 TRUE TRUE +ENSG00000167880.8 . BCM GRCh38.p13 chr17 76017825 76017825 + C C A Nonsense_Mutation SNP ENST00000301607.8 exon14 c.G1624T p.E542X exonic ENSG00000167880.8 . stopgain ENSG00000167880.8:ENST00000301607.8:exon14:c.G1624T:p.E542X 17q25.1 C3L-01607 . . . . . . . . . 5.6 . . . . D A . . . 0.264 . . . . . . . . . D D . . 6.099 35 0.997 D N 0.555 5.498 0.325 3.868 0.044 0.487 0.574 0.578 0.563 . 4.760 3.800 3.556 0.126 -0.179 0.997 0.735 0.150 700 . . . . EVPL 206 0 190 34 0.151785714285714 TRUE TRUE +ENSG00000154080.14 . BCM GRCh38.p13 chr18 26916511 26916511 + A A T Nonsense_Mutation SNP ENST00000618847.5 exon6 c.T1080A p.C360X exonic ENSG00000154080.14 . stopgain ENSG00000154080.14:ENST00000618847.5:exon6:c.T1080A:p.C360X 18q11.2 C3L-01607 . . . . . . . . . 5.6 . . . . D D . . . 0.532 . . . . . . . . . D D . . 6.828 36 0.992 D N 0.650 6.475 0.515 5.302 0.047 0.693 0.590 0.659 0.564 . 6.070 3.750 1.987 1.312 0.756 1.000 0.985 0.993 931 . . . . CHST9 306 0 236 47 0.166077738515901 TRUE TRUE +ENSG00000104899.8 . BCM GRCh38.p13 chr19 2249705 2249705 + C C A Missense_Mutation SNP ENST00000221496.5 exon1 c.C373A p.P125T exonic ENSG00000104899.8 . nonsynonymous SNV ENSG00000104899.8:ENST00000221496.5:exon1:c.C373A:p.P125T 19p13.3 C3L-01607 . . . . . . . . . 5.19 T T P B N N . D D 0.153 T T D 0.239 0.525 0.871 0.004 T D T T T T 0.474 6.225 0.894 D N -0.626 0.940 -0.720 0.871 0.999 0.578 0.151 0.490 0.509 . 3.910 2.830 0.174 0.022 0.599 0.000 0.001 0.002 982 Anti-Mullerian_hormone,_N-terminal . . . AMH 18 1 15 3 0.166666666666667 TRUE NA +ENSG00000197838.5 . BCM GRCh38.p13 chr19 41091850 41091850 + C C A Missense_Mutation SNP ENST00000330436.4 exon5 c.C773A p.T258K exonic ENSG00000197838.5 . nonsynonymous SNV ENSG00000197838.5:ENST00000330436.4:exon5:c.C773A:p.T258K 19q13.2 C3L-01607 . . . . . . . . . 10.20 D D D D D N M T D 0.407 T T D 0.322 . 0.791 0.572 T T T T D D 2.431 22.200 0.988 N N 0.159 3.125 0.005 2.376 0.002 0.677 0.574 0.673 0.542 . 4.350 4.350 1.293 0.991 0.514 0.005 0.007 0.015 725 . . . . CYP2A13 249 0 215 49 0.185606060606061 NA TRUE +ENSG00000131068.4 . BCM GRCh38.p13 chr20 31373149 31373161 + AAATGTTCACCAT AAATGTTCACCAT - Frame_Shift_Del DEL ENST00000253381.3 exon2 c.351_363del p.N118Afs*26 exonic ENSG00000131068.4 . frameshift deletion ENSG00000131068.4:ENST00000253381.3:exon2:c.351_363del:p.N118Afs*26 20q11.21 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DEFB118 147 0 117 26 0.181818181818182 TRUE TRUE +ENSG00000167104.11 . BCM GRCh38.p13 chr20 33034255 33034255 + A A C Missense_Mutation SNP ENST00000349552.1 exon3 c.A267C p.Q89H exonic ENSG00000167104.11 . nonsynonymous SNV ENSG00000167104.11:ENST00000349552.1:exon3:c.A267C:p.Q89H 20q11.21 C3L-01607 . . . . . . . . . 6.20 D D D D N N M T N 0.610 T T T 0.260 0.621 0.076 0.324 T T T T D T 3.010 23.400 0.990 N N 0.002 2.519 -0.108 2.025 0.018 0.487 0.590 0.574 0.564 . 4.700 -0.871 0.403 -0.796 -0.065 1.000 0.992 0.997 102 Lipid-binding_serum_glycoprotein,_N-terminal . . . BPIFB6 206 0 192 38 0.165217391304348 TRUE TRUE +ENSG00000125965.9 . BCM GRCh38.p13 chr20 35437525 35437525 + G G - Frame_Shift_Del DEL ENST00000374369.8 exon1 c.404delC p.P135Qfs*12 exonic ENSG00000125965.9 . frameshift deletion ENSG00000125965.9:ENST00000374369.8:exon1:c.404delC:p.P135Qfs*12 20q11.22 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GDF5 301 0 301 16 0.0504731861198738 NA TRUE +ENSG00000064601.19 . BCM GRCh38.p13 chr20 45893235 45893235 + A A G Missense_Mutation SNP ENST00000646241.3 exon7 c.A616G p.N206D exonic ENSG00000064601.19 . nonsynonymous SNV ENSG00000064601.19:ENST00000646241.3:exon7:c.A616G:p.N206D 20q13.12 C3L-01607 . . . . . . . . . 19.20 D D D D D D M D D 0.886 D D D 0.870 0.933 0.990 1.265 T D D D D D 4.297 29.600 0.998 D D 0.875 10.429 0.824 10.887 1.000 0.742 0.775 0.702 0.735 . 5.210 5.210 9.325 1.312 0.756 1.000 1.000 0.999 757 . . . . CTSA 328 1 384 69 0.152317880794702 TRUE TRUE +ENSG00000124171.9 . BCM GRCh38.p13 chr20 50749887 50749887 + T T C Missense_Mutation SNP ENST00000371610.7 exon3 c.T518C p.I173T exonic ENSG00000124171.9 . nonsynonymous SNV ENSG00000124171.9:ENST00000371610.7:exon3:c.T518C:p.I173T 20q13.13 C3L-01607 . . . . . . . . . 16.20 D D D D D D H T D 0.916 T T D 0.676 0.873 0.667 1.192 D T D D D D 4.036 27.200 0.999 D D 1.039 15.187 0.960 16.576 1.000 0.707 0.546 0.725 0.584 . 6.020 6.020 7.602 1.114 0.661 1.000 1.000 0.999 859 PDZ_domain . . . PARD6B 253 0 205 48 0.189723320158103 TRUE TRUE +ENSG00000026559.14 . BCM GRCh38.p13 chr20 51004301 51004301 + T T C Missense_Mutation SNP ENST00000371571.5 exon3 c.A1280G p.Y427C exonic ENSG00000026559.14 . nonsynonymous SNV ENSG00000026559.14:ENST00000371571.5:exon3:c.A1280G:p.Y427C 20q13.13 C3L-01607 . . . . . . . . . 20.20 D D D D D D H D D 0.966 D D D 0.985 0.831 0.990 2.751 D D D D D D 4.433 31 0.998 D D 0.939 12.104 0.829 11.034 1.000 0.718 0.610 0.571 0.586 . 5.490 5.490 7.972 1.134 0.661 1.000 0.949 0.974 846 Ion_transport_domain . . . KCNG1 142 0 158 9 0.0538922155688623 TRUE TRUE +ENSG00000182093.16 . BCM GRCh38.p13 chr21 39390833 39390833 + A A G Missense_Mutation SNP ENST00000647779.1 exon2 c.A238G p.N80D exonic ENSG00000182093.16;ENSG00000285815.1 . nonsynonymous SNV ENSG00000285815.1:ENST00000647779.1:exon2:c.A238G:p.N80D,ENSG00000182093.16:ENST00000649170.1:exon2:c.A238G:p.N80D 21q22.2 C3L-01607 . . . . . . . . . 10.20 D T B B D D M T N 0.700 T T D 0.178 0.660 0.014 1.010 D T T T D D 3.988 26.900 0.995 D D 0.273 3.641 0.335 3.926 1.000 0.744 0.725 0.630 0.714 . 5.390 4.210 8.996 1.214 0.756 1.000 1.000 0.944 950 . . . . GET1 160 0 154 9 0.0552147239263804 TRUE NA +ENSG00000184949.16 . BCM GRCh38.p13 chr22 38628869 38628869 + C C T Missense_Mutation SNP ENST00000535113.5 exon7 c.G586A p.D196N exonic ENSG00000184949.16 . nonsynonymous SNV ENSG00000184949.16:ENST00000535113.5:exon7:c.G586A:p.D196N 22q13.1 C3L-01607 . . . . . . . . . 12.19 D D D D D D M . D 0.854 T T D 0.374 0.640 0.118 . T T T T D T 3.708 25.400 0.999 D D 0.665 6.653 0.628 6.587 0.688 0.554 0.590 0.602 0.621 . 5.390 5.390 3.930 1.026 0.599 1.000 0.994 0.782 774 . . . . FAM227A 236 0 241 27 0.100746268656716 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53194495 53194495 + T T A Missense_Mutation SNP ENST00000375401.8 exon23 c.A3682T p.T1228S exonic ENSG00000126012.12 . nonsynonymous SNV ENSG00000126012.12:ENST00000375401.8:exon23:c.A3682T:p.T1228S Xp11.22 C3L-01607 . . . . . . . . . 2.19 T T B B N N L T N 0.143 T T T 0.028 0.311 0.230 0.492 T T T T T D 1.063 12.390 0.911 D . . . . . 0.670 . . . . . 4.520 -0.032 -0.150 0.142 0.663 0.000 0.993 0.997 93 Zinc_finger,_PHD-type;Zinc_finger,_PHD-type,_conserved_site . . . KDM5C 141 1 119 49 0.291666666666667 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53195398 53195425 + AGTGGTCACCATTCTAAGGCCAAGGGCG AGTGGTCACCATTCTAAGGCCAAGGGCG - Frame_Shift_Del DEL ENST00000375401.8 exon21 c.3121_3133del p.N1041Tfs*10 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon21:c.3121_3133del:p.N1041Tfs*10 Xp11.22 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 252 0 196 17 0.07981220657277 TRUE TRUE +ENSG00000123576.5 . BCM GRCh38.p13 chrX 104250724 104250724 + G G A Missense_Mutation SNP ENST00000372588.4 exon4 c.C725T p.P242L exonic ENSG00000123576.5 . nonsynonymous SNV ENSG00000123576.5:ENST00000372588.4:exon4:c.C725T:p.P242L Xq22.2 C3L-01607 . . . . . . . . . 1.18 T D B B . N L T N 0.066 T T T 0.028 0.308 0.223 0.412 T T T T T T 0.715 8.590 0.514 N . . . . . 0.022 . . . . . 4.490 -4.430 0.004 -1.333 -0.206 0.000 0.000 0.000 478 . . . ID=COSV65424475;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(lung) ESX1 114 0 98 21 0.176470588235294 TRUE TRUE +ENSG00000102241.12 . BCM GRCh38.p13 chrX 136511945 136511952 + GAAGAAGG GAAGAAGG - Frame_Shift_Del DEL ENST00000218364.5 exon9 c.2200_2207del p.E734Afs*12 exonic ENSG00000102241.12 . frameshift deletion ENSG00000102241.12:ENST00000218364.5:exon9:c.2200_2207del:p.E734Afs*12 Xq26.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HTATSF1 91 0 55 26 0.320987654320988 TRUE TRUE +ENSG00000149577.16 . BCM GRCh38.p13 chr11 117188827 117188827 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000149577.16 ENST00000324225.9:exon13:c.1278+1G>A . . 11q23.3 C3L-01607 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.834 35 0.994 D . 0.972 13.073 0.771 9.312 1.000 0.140 0.178 0.174 0.118 0.985 4.510 4.510 9.938 1.160 0.577 1.000 0.991 0.897 603 . . . . SIDT2 121 0 131 14 0.096551724137931 TRUE NA +ENSG00000196531.13 . BCM GRCh38.p13 chr12 56713684 56713684 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000196531.13 ENST00000454682.6:exon6:c.5824-1G>T . . 12q13.3 C3L-01607 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.877 35 0.995 D . 1.070 16.320 0.892 13.406 1.000 0.257 0.272 0.320 0.376 0.970 4.490 4.490 7.834 1.025 0.594 1.000 0.998 0.920 45 . . . . NACA 139 0 102 25 0.196850393700787 TRUE TRUE +ENSG00000171790.15 . BCM GRCh38.p13 chr1 41017995 41017995 + A A G Silent SNP ENST00000359345.5 exon2 c.T597C p.S199S exonic ENSG00000171790.15 . synonymous SNV ENSG00000171790.15:ENST00000359345.5:exon2:c.T597C:p.S199S 1p34.2 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLFNL1 124 0 114 17 0.129770992366412 TRUE TRUE +ENSG00000189350.12 . BCM GRCh38.p13 chr2 29022183 29022183 + G G A Silent SNP ENST00000379558.4 exon11 c.G1386A p.T462T exonic ENSG00000189350.12 . synonymous SNV ENSG00000189350.12:ENST00000379558.4:exon11:c.G1386A:p.T462T 2p23.2 C3L-01607 4.14e-05 0.0004 0 0 0 1.498e-05 0 0 rs527747733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65423208;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) TOGARAM2 171 1 193 38 0.164502164502165 TRUE TRUE +ENSG00000172985.11 . BCM GRCh38.p13 chr2 109490715 109490715 + C C T Silent SNP ENST00000309415.8 exon9 c.C2259T p.D753D exonic ENSG00000172985.11 . synonymous SNV ENSG00000172985.11:ENST00000309415.8:exon9:c.C2259T:p.D753D 2q13 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SH3RF3 114 0 107 25 0.189393939393939 TRUE NA +ENSG00000157445.15 . BCM GRCh38.p13 chr3 54503611 54503611 + C C T Silent SNP ENST00000474759.6 exon5 c.C501T p.I167I exonic ENSG00000157445.15 . synonymous SNV ENSG00000157445.15:ENST00000474759.6:exon5:c.C501T:p.I167I 3p14.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA2D3 167 0 142 8 0.0533333333333333 TRUE NA +ENSG00000109184.15 . BCM GRCh38.p13 chr4 51899276 51899276 + T T C Silent SNP ENST00000334635.10 exon8 c.T513C p.D171D exonic ENSG00000109184.15 . synonymous SNV ENSG00000109184.15:ENST00000334635.10:exon8:c.T513C:p.D171D 4q12 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCUN1D4 155 0 126 18 0.125 TRUE TRUE +ENSG00000196923.14 . BCM GRCh38.p13 chr5 177483903 177483903 + C C G Silent SNP ENST00000355841.7 exon12 c.G1251C p.L417L exonic ENSG00000196923.14 . synonymous SNV ENSG00000196923.14:ENST00000355841.7:exon12:c.G1251C:p.L417L 5q35.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDLIM7 115 0 149 12 0.0745341614906832 TRUE TRUE +ENSG00000112293.15 . BCM GRCh38.p13 chr6 24456584 24456584 + G G A Silent SNP ENST00000230036.2 exon13 c.C1062T p.F354F exonic ENSG00000112293.15 . synonymous SNV ENSG00000112293.15:ENST00000230036.2:exon13:c.C1062T:p.F354F 6p22.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPLD1 174 0 151 27 0.151685393258427 TRUE TRUE +ENSG00000173612.10 . BCM GRCh38.p13 chr6 116806406 116806406 + A A C Silent SNP ENST00000310357.8 exon3 c.T1299G p.R433R exonic ENSG00000173612.10 . synonymous SNV ENSG00000173612.10:ENST00000310357.8:exon3:c.T1299G:p.R433R 6q22.1 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPRC6A 77 0 69 17 0.197674418604651 TRUE TRUE +ENSG00000242265.5 . BCM GRCh38.p13 chr7 94664324 94664324 + G G A Silent SNP ENST00000612748.1 exon2 c.G996A p.A332A exonic ENSG00000242265.5 . synonymous SNV ENSG00000242265.5:ENST00000612748.1:exon2:c.G996A:p.A332A 7q21.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PEG10 132 0 163 15 0.0842696629213483 TRUE NA +ENSG00000110090.13 . BCM GRCh38.p13 chr11 68812529 68812529 + A A T Silent SNP ENST00000265641.10 exon3 c.T189A p.L63L exonic ENSG00000110090.13 . synonymous SNV ENSG00000110090.13:ENST00000265641.10:exon3:c.T189A:p.L63L 11q13.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPT1A 377 1 343 55 0.138190954773869 TRUE TRUE +ENSG00000185591.10 . BCM GRCh38.p13 chr12 53381708 53381708 + A A G Silent SNP ENST00000327443.9 exon2 c.A57G p.K19K exonic ENSG00000185591.10 . synonymous SNV ENSG00000185591.10:ENST00000327443.9:exon2:c.A57G:p.K19K 12q13.13 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SP1 124 0 103 19 0.155737704918033 TRUE TRUE +ENSG00000121741.16 . BCM GRCh38.p13 chr13 20027261 20027261 + A A G Silent SNP ENST00000610343.4 exon9 c.A1794G p.T598T exonic ENSG00000121741.16 . synonymous SNV ENSG00000121741.16:ENST00000610343.4:exon9:c.A1794G:p.T598T 13q12.11 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZMYM2 179 0 165 26 0.136125654450262 TRUE TRUE +ENSG00000102452.17 . BCM GRCh38.p13 chr13 101395360 101395360 + A A C Silent SNP ENST00000251127.11 exon3 c.T114G p.V38V exonic ENSG00000102452.17 . synonymous SNV ENSG00000102452.17:ENST00000251127.11:exon3:c.T114G:p.V38V 13q33.1 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NALCN 105 0 76 12 0.136363636363636 TRUE TRUE +ENSG00000149922.10 . BCM GRCh38.p13 chr16 30086321 30086321 + T T C Silent SNP ENST00000395224.6 exon9 c.A1215G p.V405V exonic ENSG00000149922.10 . synonymous SNV ENSG00000149922.10:ENST00000395224.6:exon9:c.A1215G:p.V405V 16p11.2 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBX6 172 0 195 40 0.170212765957447 TRUE TRUE +ENSG00000278540.5 . BCM GRCh38.p13 chr17 37161880 37161880 + G G A Silent SNP ENST00000614428.4 exon42 c.C5139T p.R1713R exonic ENSG00000278540.5 . synonymous SNV ENSG00000278540.5:ENST00000614428.4:exon42:c.C5139T:p.R1713R 17q12 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACACA 439 0 390 75 0.161290322580645 TRUE TRUE +ENSG00000186868.15 . BCM GRCh38.p13 chr17 45996457 45996457 + T T C Silent SNP ENST00000262410.9 exon10 c.T1566C p.T522T exonic ENSG00000186868.15 . synonymous SNV ENSG00000186868.15:ENST00000262410.9:exon10:c.T1566C:p.T522T 17q21.31 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPT 285 0 283 46 0.139817629179331 TRUE TRUE +ENSG00000196169.15 . BCM GRCh38.p13 chr17 74352835 74352835 + C C T Silent SNP ENST00000389916.5 exon15 c.C1995T p.P665P exonic ENSG00000196169.15 . synonymous SNV ENSG00000196169.15:ENST00000389916.5:exon15:c.C1995T:p.P665P 17q25.1 C3L-01607 . . . . . . . . rs1016773272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63430705;OCCURENCE=1(liver) KIF19 163 0 151 40 0.209424083769634 TRUE TRUE +ENSG00000272333.7 . BCM GRCh38.p13 chr19 35727544 35727544 + C C A Silent SNP ENST00000420124.4 exon16 c.C4224A p.A1408A exonic ENSG00000272333.7 . synonymous SNV ENSG00000272333.7:ENST00000420124.4:exon16:c.C4224A:p.A1408A 19q13.12 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2B 123 0 113 26 0.18705035971223 TRUE TRUE +ENSG00000100024.15 . BCM GRCh38.p13 chr22 24525761 24525761 + G G A Silent SNP ENST00000326010.10 exon10 c.G1122A p.K374K exonic ENSG00000100024.15 . synonymous SNV ENSG00000100024.15:ENST00000326010.10:exon10:c.G1122A:p.K374K 22q11.23 C3L-01607 0.0026 0 0.0002 0.0229 0.0118 0.0004 0.0011 0.0003 rs35916595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58113753;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) UPB1 506 0 426 94 0.180769230769231 TRUE TRUE +ENSG00000184076.13 . BCM GRCh38.p13 chr22 29769695 29769695 + C C T Silent SNP ENST00000330029.6 exon2 c.C168T p.I56I exonic ENSG00000184076.13 . synonymous SNV ENSG00000184076.13:ENST00000330029.6:exon2:c.C168T:p.I56I 22q12.2 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UQCR10 219 0 212 53 0.2 TRUE TRUE +ENSG00000198125.13 . BCM GRCh38.p13 chr22 35607417 35607417 + A A C Silent SNP ENST00000397326.7 exon3 c.T345G p.V115V exonic ENSG00000198125.13 . synonymous SNV ENSG00000198125.13:ENST00000397326.7:exon3:c.T345G:p.V115V 22q12.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MB 82 1 80 14 0.148936170212766 TRUE TRUE +ENSG00000147100.11 . BCM GRCh38.p13 chrX 74524779 74524779 + C C T Silent SNP ENST00000587091.6 exon3 c.C996T p.A332A exonic ENSG00000147100.11 . synonymous SNV ENSG00000147100.11:ENST00000587091.6:exon3:c.C996T:p.A332A Xq13.2 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC16A2 145 0 149 65 0.303738317757009 TRUE NA +ENSG00000198498.10 . BCM GRCh38.p13 chr4 163520042 163520042 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000198498.10 ENST00000358572.10:c.*528C>G . . 4q32.2 C3L-01607 . . . . . . . . rs1019892970 1.14 D . . . . N . T N 0.257 T T T 0.025 0.292 0.107 . . T T T T T 0.070 1.840 0.537 N N -0.665 0.873 -0.887 0.637 0.140 0.732 0.744 0.464 0.684 . 2.080 -0.112 0.070 -0.262 0.389 0.002 0.004 0.006 985 . . . . TMA16 123 0 127 10 0.072992700729927 TRUE NA +ENSG00000155506.17 . BCM GRCh38.p13 chr5 154756102 154756102 + C C A Intron SNP NA NA NA NA intronic ENSG00000155506.17 . . . 5q33.2 C3L-01607 . . . . . . . . . 1.13 T T . . . D . T N . T T . 0.033 0.248 0.339 . . . T T T T 2.127 20.300 0.991 N N 0.050 2.693 0.035 2.484 1.000 0.442 0.522 0.504 0.581 . 2.890 1.880 1.485 0.923 0.563 1.000 0.997 0.948 909 . . . . LARP1 79 0 87 14 0.138613861386139 TRUE TRUE +ENSG00000106823.12 . BCM GRCh38.p13 chr9 92536054 92536056 + TGC TGC - 5'UTR DEL NA NA NA NA UTR5 ENSG00000106823.12 ENST00000344604.9:c.13189_13188delins- . . 9q22.31 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ECM2 312 0 212 34 0.138211382113821 TRUE NA +ENSG00000072518.20 . BCM GRCh38.p13 chr11 63888925 63888925 + A A G Intron SNP NA NA NA NA intronic ENSG00000072518.20 . . . 11q13.1 C3L-01607 . . . . . . . . . 4.10 . . . . . D . . N . T T . 0.164 0.731 0.720 . . . T T D D 2.210 20.900 0.951 D N 0.286 3.710 0.393 4.312 1.000 0.387 0.435 0.138 0.550 . 5.640 5.640 4.258 1.312 0.756 1.000 1.000 0.998 395 . . . . MARK2 238 0 214 34 0.137096774193548 TRUE NA +ENSG00000140416.23 . BCM GRCh38.p13 chr15 63062713 63062713 + C C G Intron SNP NA NA NA NA intronic ENSG00000140416.23 . . . 15q22.2 C3L-01607 . . . . . . . . . 1.13 T T B B . N . D N 0.086 . . T . . 0.518 . . . T T . T -0.646 0.058 0.748 N N . . . . 1.000 0.722 0.547 0.702 0.735 . 5.760 1.260 -2.197 1.010 0.580 0.000 0.016 0.005 785 . . . . TPM1 335 0 292 51 0.14868804664723 TRUE TRUE +ENSG00000169347.17 . BCM GRCh38.p13 chr16 20327559 20327559 + T T A 5'Flank SNP NA NA NA NA upstream ENSG00000169347.17 dist=52 . . 16p12.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GP2 310 0 275 66 0.193548387096774 TRUE NA +ENSG00000108846.16 . BCM GRCh38.p13 chr17 50667790 50667815 + CCAGGGCTCTGGGTGCCCAGGCATGG CCAGGGCTCTGGGTGCCCAGGCATGG - Intron DEL NA NA NA NA intronic ENSG00000108846.16 . . . 17q21.33 C3L-01607 2.524e-05 0 0 0 0 4.582e-05 0 0 rs770766902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCC3 222 0 201 28 0.122270742358079 TRUE NA +ENSG00000130283.9 . BCM GRCh38.p13 chr19 18879318 18879318 + - NA A 5'UTR SNP NA NA NA NA UTR5 ENSG00000130283.9;ENSG00000223802.7 ENST00000247005.8:c.-9012_-9011insT;ENST00000623927.1:c.-9012_-9011insT . . 19p13.11 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GDF1 NA NA NA NA NA NA NA +ENSG00000163098.6 . BCM GRCh38.p13 chr19 53289968 53289968 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000163098.6 . . . 19q13.42 C3L-01607 . . . . . . . . . 4.19 D T B B . N M T D 0.323 T T T 0.076 0.551 0.302 0.284 T T T T D T 1.251 14.030 0.980 N N -0.884 0.540 -1.075 0.402 0.000 0.487 0.574 0.547 0.564 . 0.502 -0.831 0.984 0.149 0.410 0.004 0.086 0.066 994 . . . . BIRC8 254 0 230 44 0.160583941605839 TRUE TRUE +ENSG00000004864.14 . BCM GRCh38.p13 chr7 96131820 96131821 + GC GC TT Unknown MNP ENST00000265631.10 exon15 c.1513_1514delinsAA p.A505N exonic ENSG00000004864.14 . nonframeshift substitution ENSG00000004864.14:ENST00000265631.10:exon15:c.1513_1514delinsAA:p.A505N 7q21.3 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A13 458 1 471 60 0.112994350282486 TRUE TRUE +ENSG00000197694.18 . BCM GRCh38.p13 chr9 128588904 128588905 + GA GA TT Unknown MNP ENST00000372731.8 exon21 c.2967_2968delinsTT p.K989_V2471del exonic ENSG00000197694.18 . stopgain ENSG00000197694.18:ENST00000372731.8:exon21:c.2967_2968delinsTT:p.K989_V2471del 9q34.11 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPTAN1 405 0 329 49 0.12962962962963 TRUE TRUE +ENSG00000010610.10 . BCM GRCh38.p13 chr12 6818872 6818873 + TC TC AT Unknown MNP ENST00000011653.9 exon9 c.1304_1305delinsAT p.I435N exonic ENSG00000010610.10 . nonframeshift substitution ENSG00000010610.10:ENST00000011653.9:exon9:c.1304_1305delinsAT:p.I435N 12p13.31 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD4 196 0 217 17 0.0726495726495727 TRUE TRUE +ENSG00000141503.17 . BCM GRCh38.p13 chr17 4892158 4892159 + AG AG GT Unknown MNP ENST00000355280.11 exon17 c.2011_2012delinsGT p.R671V exonic ENSG00000141503.17 . nonframeshift substitution ENSG00000141503.17:ENST00000355280.11:exon17:c.2011_2012delinsGT:p.R671V 17p13.2 C3L-01607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MINK1 240 0 203 37 0.154166666666667 TRUE TRUE +ENSG00000177674.16 . BCM GRCh38.p13 chr1 11747520 11747520 + G G C Missense_Mutation SNP ENST00000314340.10 exon3 c.G143C p.R48P exonic ENSG00000177674.16 . nonsynonymous SNV ENSG00000177674.16:ENST00000314340.10:exon3:c.G143C:p.R48P 1p36.22 C3L-01836 . . . . . . . . . 5.20 T T B B U D L T D 0.525 T T D 0.219 0.883 0.605 0.354 T T T T D T 1.725 17.200 0.958 D N -0.439 1.299 -0.372 1.424 0.982 0.706 0.710 0.723 0.714 . 5.160 1.960 2.818 0.187 -0.176 1.000 0.944 0.241 895 . . . . AGTRAP 217 0 178 37 0.172093023255814 TRUE TRUE +ENSG00000143669.14 . BCM GRCh38.p13 chr1 235697241 235697241 + C C A Missense_Mutation SNP ENST00000389793.7 exon46 c.G10406T p.W3469L exonic ENSG00000143669.14 . nonsynonymous SNV ENSG00000143669.14:ENST00000389793.7:exon46:c.G10406T:p.W3469L 1q42.3 C3L-01836 . . . . . . . . . 14.20 D T P B D D M T D 0.722 T T D 0.426 0.485 0.790 . D D D D D D 3.449 24.600 0.976 D D 0.581 5.737 0.658 7.029 1.000 0.651 0.588 0.547 0.684 . 5.790 5.790 7.834 1.026 0.549 1.000 1.000 0.992 627 . . . . LYST 153 0 174 49 0.219730941704036 TRUE TRUE +ENSG00000162727.3 . BCM GRCh38.p13 chr1 248145196 248145196 + A A G Missense_Mutation SNP ENST00000366476.1 exon1 c.A49G p.I17V exonic ENSG00000162727.3 . nonsynonymous SNV ENSG00000162727.3:ENST00000366476.1:exon1:c.A49G:p.I17V 1q44 C3L-01836 . . . . . . . . . 3.20 D D P B U N L T N 0.118 T T T 0.053 0.592 0.014 0.054 T T T T D T 0.330 4.633 0.983 N N -0.406 1.369 -0.518 1.173 0.000 0.487 0.574 0.574 0.564 . 3.140 0.110 -1.148 -0.088 0.509 0.000 0.001 0.021 976 . . . . OR2M5 126 1 90 19 0.174311926605505 NA TRUE +ENSG00000162727.3 . BCM GRCh38.p13 chr1 248145349 248145349 + C C T Missense_Mutation SNP ENST00000366476.1 exon1 c.C202T p.L68F exonic ENSG00000162727.3 . nonsynonymous SNV ENSG00000162727.3:ENST00000366476.1:exon1:c.C202T:p.L68F 1q44 C3L-01836 . . . . . . . . . 0.20 T T P P U N N T N 0.083 T T T 0.057 0.451 0.014 0.049 T T T T T T 0.441 5.871 0.995 N N -0.527 1.125 -0.623 1.012 0.000 0.487 0.574 0.574 0.564 . 3.280 2.320 -0.921 -0.221 0.409 0.000 0.044 0.056 976 GPCR,_rhodopsin-like,_7TM . . ID=COSV100822754;OCCURENCE=1(lung) OR2M5 268 0 212 54 0.203007518796992 NA TRUE +ENSG00000138363.15 . BCM GRCh38.p13 chr2 215344848 215344848 + G G A Missense_Mutation SNP ENST00000236959.14 exon13 c.G1297A p.V433M exonic ENSG00000138363.15 . nonsynonymous SNV ENSG00000138363.15:ENST00000236959.14:exon13:c.G1297A:p.V433M 2q35 C3L-01836 . . . . . . . . . 18.20 D D D P D D H D D 0.848 D D D 0.783 0.837 0.874 0.334 T D D D D D 4.221 28.900 0.999 D D 0.886 10.689 0.804 10.246 1.000 0.707 0.702 0.725 0.714 . 5.910 5.010 10.003 1.176 0.676 1.000 0.960 0.913 761 . . . . ATIC 610 1 522 158 0.232352941176471 TRUE TRUE +ENSG00000168427.9 . BCM GRCh38.p13 chr2 238142917 238142919 + ACA ACA - In_Frame_Del DEL ENST00000409223.2 exon3 c.893_895del p.N299del exonic ENSG00000168427.9 . nonframeshift deletion ENSG00000168427.9:ENST00000409223.2:exon3:c.893_895del:p.N299del 2q37.3 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL30 67 0 28 9 0.243243243243243 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142014 10142014 + - NA CG Frame_Shift_Ins INS ENST00000256474.3 exon1 c.167_168insCG p.G57Afs*11 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon1:c.167_168insCG:p.G57Afs*11 3p25.3 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000047315.17 . BCM GRCh38.p13 chr4 57020991 57020991 + T T G Missense_Mutation SNP ENST00000314595.6 exon17 c.T2416G p.F806V exonic ENSG00000047315.17 . nonsynonymous SNV ENSG00000047315.17:ENST00000314595.6:exon17:c.T2416G:p.F806V 4q12 C3L-01836 . . . . . . . . . 16.20 D T P P D D H T D 0.849 D D D 0.854 0.893 0.905 2.688 D D D D D D 4.002 27.000 0.992 D D 0.578 5.703 0.548 5.623 1.000 0.731 0.725 0.725 0.649 . 5.640 5.640 8.003 1.118 0.665 1.000 0.998 0.796 910 DNA-directed_RNA_polymerase,_subunit_2,_hybrid-binding_domain . . . POLR2B 384 0 252 45 0.151515151515152 TRUE TRUE +ENSG00000095015.6 . BCM GRCh38.p13 chr5 56815629 56815629 + C C A Missense_Mutation SNP ENST00000399503.4 exon1 c.C56A p.A19D exonic ENSG00000095015.6 . nonsynonymous SNV ENSG00000095015.6:ENST00000399503.4:exon1:c.C56A:p.A19D 5q11.2 C3L-01836 . . . . . . . . rs951507666 9.20 D D D D U D N T N 0.380 T T D 0.284 0.202 0.649 0.781 D T D T D T 2.615 22.700 0.995 N N 0.179 3.211 0.145 2.925 1.000 0.025 0.219 0.240 0.562 . 4.030 4.030 0.374 0.921 0.482 0.522 0.837 0.925 902 . . . . MAP3K1 82 0 31 3 0.0882352941176471 TRUE NA +ENSG00000214357.9 . BCM GRCh38.p13 chr5 172669993 172669993 + G G T Missense_Mutation SNP ENST00000369800.6 exon2 c.G240T p.E80D exonic ENSG00000214357.9 . nonsynonymous SNV ENSG00000214357.9:ENST00000369800.6:exon2:c.G240T:p.E80D 5q35.1 C3L-01836 . . . . . . . . . 14.19 D D D D U D M . D 0.713 T T D 0.671 0.682 0.276 1.355 T T D D D D 3.501 24.700 0.997 D D 0.587 5.793 0.508 5.231 1.000 0.581 0.590 0.576 0.530 . 5.480 3.690 3.294 1.160 0.656 1.000 1.000 1.000 810 Neuralized_homology_repeat_(NHR)_domain . . . NEURL1B 67 0 57 43 0.43 TRUE TRUE +ENSG00000065615.14 . BCM GRCh38.p13 chr6 83936321 83936321 + G G T Missense_Mutation SNP ENST00000369681.10 exon12 c.G1053T p.L351F exonic ENSG00000065615.14 . nonsynonymous SNV ENSG00000065615.14:ENST00000369681.10:exon12:c.G1053T:p.L351F 6q14.2 C3L-01836 . . . . . . . . . 14.20 D D P P D D M D N 0.514 D D D 0.595 0.686 0.896 0.585 T D D T D D 3.078 23.600 0.999 D N 0.130 3.008 0.142 2.914 0.325 0.732 0.744 0.653 0.636 . 4.770 3.900 4.041 1.176 0.618 1.000 1.000 0.707 481 Flavoprotein_pyridine_nucleotide_cytochrome_reductase-like,_FAD-binding_domain;FAD-binding_domain,_ferredoxin_reductase-type . . . CYB5R4 167 1 57 18 0.24 TRUE TRUE +ENSG00000166257.9 . BCM GRCh38.p13 chr11 123645708 123645708 + G G A Missense_Mutation SNP ENST00000392770.6 exon2 c.C98T p.T33M exonic ENSG00000166257.9 . nonsynonymous SNV ENSG00000166257.9:ENST00000392770.6:exon2:c.C98T:p.T33M 11q24.1 C3L-01836 4.123e-05 0.0002 0 0.0001 0 3e-05 0 0 rs140041927 15.20 D D D D D D M T D 0.848 T T D 0.483 . 0.741 1.286 T D T D D D 4.004 27.000 0.999 D D 0.792 8.630 0.813 10.526 1.000 0.516 0.563 0.598 0.586 . 5.960 5.960 7.656 1.176 0.676 1.000 1.000 0.998 802 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV54800215;OCCURENCE=1(large_intestine),1(endometrium) SCN3B 274 0 207 36 0.148148148148148 TRUE TRUE +ENSG00000188906.16 . BCM GRCh38.p13 chr12 40232351 40232351 + - NA G Frame_Shift_Ins INS ENST00000298910.12 exon3 c.316dupG p.N107Kfs*2 exonic ENSG00000188906.16 . frameshift insertion ENSG00000188906.16:ENST00000298910.12:exon3:c.316dupG:p.N107Kfs*2 12q12 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRK2 NA NA NA NA NA NA NA +ENSG00000139269.3 . BCM GRCh38.p13 chr12 57456580 57456580 + G G A Missense_Mutation SNP ENST00000266646.3 exon2 c.G785A p.R262Q exonic ENSG00000139269.3 . nonsynonymous SNV ENSG00000139269.3:ENST00000266646.3:exon2:c.G785A:p.R262Q 12q13.3 C3L-01836 2.472e-05 9.614e-05 8.637e-05 0 0 1.499e-05 0 0 rs372615182 0.20 T T B B N N N T N 0.056 T T T 0.085 . 0.826 0.338 T T T T T T 1.619 16.500 0.959 N N -0.719 0.781 -0.520 1.170 1.000 0.455 0.609 0.522 0.584 . 4.790 1.990 3.369 -0.125 -0.672 0.505 0.932 0.748 270 Transforming_growth_factor-beta,_C-terminal . . ID=COSV56988105;OCCURENCE=1(large_intestine) INHBE 244 0 222 55 0.1985559566787 TRUE TRUE +ENSG00000118946.12 . BCM GRCh38.p13 chr13 57634715 57634715 + G G A Missense_Mutation SNP ENST00000377918.8 exon1 c.G2169A p.M723I exonic ENSG00000118946.12 . nonsynonymous SNV ENSG00000118946.12:ENST00000377918.8:exon1:c.G2169A:p.M723I 13q21.1 C3L-01836 . . . . . . . . . 13.20 T D D D D D M T N 0.848 T T D 0.329 0.549 0.546 . D T D T D D 3.541 24.800 0.986 D D 0.677 6.810 0.699 7.738 1.000 0.652 0.574 0.616 0.710 . 5.260 5.260 8.190 1.176 0.676 1.000 1.000 1.000 835 . . . . PCDH17 476 0 167 51 0.23394495412844 TRUE TRUE +ENSG00000136160.17 . BCM GRCh38.p13 chr13 77918366 77918366 + C C T Missense_Mutation SNP ENST00000646607.2 exon1 c.G208A p.E70K exonic ENSG00000136160.17 . nonsynonymous SNV ENSG00000136160.17:ENST00000646607.2:exon1:c.G208A:p.E70K 13q22.3 C3L-01836 5.018e-05 0 0 0.0007 0 0 0 0 rs748181676 2.20 D T B B N N L T N 0.115 T T D 0.067 0.329 0.767 0.513 T T T T T T 1.023 11.910 0.969 N N -1.029 0.374 -1.077 0.399 1.000 0.726 0.563 0.594 0.375 . 4.750 -0.897 0.137 0.019 0.549 0.001 0.064 0.174 493 . . . . EDNRB 94 1 90 20 0.181818181818182 TRUE NA +ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673781 7673781 + C C A Missense_Mutation SNP ENST00000269305.8 exon8 c.G839T p.R280I exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G839T:p.R280I 17p13.1 C3L-01836 . . . . . . . . rs121912660 19.20 D D D D D D M D D 0.935 D D D 0.942 0.878 0.984 0.491 T D D D D D 4.358 30 0.987 D D 0.918 11.529 0.845 11.609 1.000 0.722 0.702 0.725 0.735 . 5.130 5.130 7.905 1.022 0.596 0.998 0.860 0.998 432 p53,_DNA-binding_domain . . ID=COSV52687987;OCCURENCE=9(breast),1(large_intestine),1(central_nervous_system),3(ovary),2(haematopoietic_and_lymphoid_tissue),1(soft_tissue),2(prostate),14(lung),5(upper_aerodigestive_tract),1(endometrium) TP53 775 0 822 18 0.0214285714285714 TRUE TRUE +ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674924 7674924 + C C G Missense_Mutation SNP ENST00000269305.8 exon6 c.G607C p.V203L exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon6:c.G607C:p.V203L 17p13.1 C3L-01836 . . . . . . . . . 13.20 D D B B D N L D N 0.358 D D D 0.506 0.752 0.902 0.640 T D D D T D 1.987 19.160 0.942 D D -0.613 0.964 -0.605 1.038 0.874 0.722 0.698 0.702 0.735 . 5.410 3.390 0.274 0.088 0.599 0.007 0.027 0.996 433 p53,_DNA-binding_domain . . . TP53 596 1 552 84 0.132075471698113 TRUE TRUE +ENSG00000258890.7 . BCM GRCh38.p13 chr17 64531890 64531890 + G G T Nonsense_Mutation SNP ENST00000556440.7 exon14 c.G1540T p.E514X exonic ENSG00000258890.7 . stopgain ENSG00000258890.7:ENST00000556440.7:exon14:c.G1540T:p.E514X 17q23.3 C3L-01836 . . . . . . . . . 5.7 . . . . N A . . . 0.322 . . . . . . . . . D D D . 10.525 56 0.995 D N 0.877 10.475 0.683 7.450 0.987 0.707 0.725 0.609 0.636 . 5.870 3.890 4.851 1.155 0.676 1.000 0.998 0.913 918 . . . ID=COSV101616285;OCCURENCE=1(central_nervous_system) CEP95 73 0 58 16 0.216216216216216 TRUE TRUE +ENSG00000083814.13 . BCM GRCh38.p13 chr19 57720827 57720827 + G G C Missense_Mutation SNP ENST00000317398.10 exon4 c.C1259G p.T420S exonic ENSG00000083814.13 . nonsynonymous SNV ENSG00000083814.13:ENST00000317398.10:exon4:c.C1259G:p.T420S 19q13.43 C3L-01836 . . . . . . . . . 3.19 T T P B . N N T D 0.106 T T T 0.061 0.499 0.481 0.583 T T T T D T 2.326 21.700 0.987 D N -0.107 2.152 -0.110 2.019 0.034 0.707 0.702 0.725 0.636 . 1.880 1.880 4.476 0.829 0.522 0.993 0.969 0.511 970 Zinc_finger_C2H2-type . . . ZNF671 223 0 249 60 0.194174757281553 TRUE TRUE +ENSG00000083812.12 . BCM GRCh38.p13 chr19 58469840 58469840 + C C A Missense_Mutation SNP ENST00000196482.4 exon3 c.C234A p.N78K exonic ENSG00000083812.12 . nonsynonymous SNV ENSG00000083812.12:ENST00000196482.4:exon3:c.C234A:p.N78K 19q13.43 C3L-01836 . . . . . . . . . 0.20 T T B B N N L T N 0.136 T T T 0.023 0.375 0.120 0.791 T T T T T T 0.552 7.042 0.442 N N -1.318 0.155 -1.296 0.211 0.928 0.632 0.698 0.645 0.636 . 4.680 -0.303 0.152 -0.261 -0.242 0.000 0.018 0.587 911 . . . . ZNF324 240 0 192 55 0.222672064777328 TRUE TRUE +ENSG00000167098.12 . BCM GRCh38.p13 chr20 32985759 32985759 + C C T Missense_Mutation SNP ENST00000356173.8 exon11 c.G874A p.A292T exonic ENSG00000167098.12 . nonsynonymous SNV ENSG00000167098.12:ENST00000356173.8:exon11:c.G874A:p.A292T 20q11.21 C3L-01836 3.298e-05 0 0 0 0 1.5e-05 0 0.0002 rs376507648 14.20 D D D D D D M T D 0.930 T T D 0.468 . 0.299 0.666 T T D D D T 3.698 25.400 0.999 D D 0.854 9.930 0.804 10.253 1.000 0.428 0.547 0.547 0.613 . 5.710 5.710 6.105 1.026 0.599 1.000 0.964 0.918 102 SUN_domain . . ID=COSV62180332;OCCURENCE=1(large_intestine),1(lung) SUN5 152 0 130 28 0.177215189873418 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609956 52609956 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000163939.18 ENST00000296302.11:exon16:c.1925-1G>A . . 3p21.1 C3L-01836 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.468 34 0.987 D . 1.195 23.279 1.070 23.997 0.993 0.322 0.319 0.121 0.118 0.980 6.170 6.170 5.815 1.026 0.599 1.000 0.996 0.995 27 . . . . PBRM1 50 0 21 8 0.275862068965517 TRUE TRUE +ENSG00000115935.17 . BCM GRCh38.p13 chr2 174572013 174572013 + G G T Silent SNP ENST00000392547.6 exon5 c.C792A p.P264P exonic ENSG00000115935.17 . synonymous SNV ENSG00000115935.17:ENST00000392547.6:exon5:c.C792A:p.P264P 2q31.1 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WIPF1 32 0 28 3 0.0967741935483871 TRUE NA +ENSG00000117983.17 . BCM GRCh38.p13 chr11 1244020 1244020 + C C T Silent SNP ENST00000529681.5 exon31 c.C7140T p.S2380S exonic ENSG00000117983.17 . synonymous SNV ENSG00000117983.17:ENST00000529681.5:exon31:c.C7140T:p.S2380S 11p15.5 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5B 122 0 96 17 0.150442477876106 NA TRUE +ENSG00000155592.16 . BCM GRCh38.p13 chr16 25240521 25240521 + C C T Silent SNP ENST00000328086.12 exon7 c.G2199A p.G733G exonic ENSG00000155592.16 . synonymous SNV ENSG00000155592.16:ENST00000328086.12:exon7:c.G2199A:p.G733G 16p12.1 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZKSCAN2 445 0 561 32 0.0539629005059022 TRUE NA +ENSG00000176531.10 . BCM GRCh38.p13 chr19 43479576 43479576 + G G A Silent SNP ENST00000292140.9 exon14 c.C1503T p.P501P exonic ENSG00000176531.10 . synonymous SNV ENSG00000176531.10:ENST00000292140.9:exon14:c.C1503T:p.P501P 19q13.31 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHLDB3 110 0 119 54 0.312138728323699 TRUE NA +ENSG00000131115.16 . BCM GRCh38.p13 chr19 44235015 44235015 + T T A Silent SNP ENST00000313040.12 exon6 c.T585A p.I195I exonic ENSG00000131115.16 . synonymous SNV ENSG00000131115.16:ENST00000313040.12:exon6:c.T585A:p.I195I 19q13.31 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF227 225 1 163 46 0.220095693779904 TRUE TRUE +ENSG00000226372.4 . BCM GRCh38.p13 chrX 27981194 27981194 + C C T Silent SNP ENST00000441525.4 exon1 c.G141A p.S47S exonic ENSG00000226372.4 . synonymous SNV ENSG00000226372.4:ENST00000441525.4:exon1:c.G141A:p.S47S Xp21.3 C3L-01836 1.143e-05 0.0001 0 0 0 0 0 0 rs760112871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101491459;OCCURENCE=1(endometrium) DCAF8L1 184 0 107 67 0.385057471264368 TRUE NA +ENSG00000168385.18 . BCM GRCh38.p13 chr2 241324447 241324447 + G G A Intron SNP NA NA NA NA intronic ENSG00000168385.18 . . . 2q37.3 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEPTIN2 35 0 33 3 0.0833333333333333 TRUE NA +ENSG00000163430.12 . BCM GRCh38.p13 chr3 120410846 120410846 + G G T Intron SNP NA NA NA NA intronic ENSG00000163430.12 . . . 3q13.33 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FSTL1 544 0 463 86 0.156648451730419 TRUE NA +ENSG00000246877.1 . BCM GRCh38.p13 chr15 75738552 75738552 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000246877.1 . . . 15q24.2 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNM1P35 22 0 19 3 0.136363636363636 TRUE NA +ENSG00000088305.18 . BCM GRCh38.p13 chr20 32762616 32762616 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000088305.18 ENST00000328111.6:c.-17708G>A . . 20q11.21 C3L-01836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNMT3B 86 0 61 4 0.0615384615384615 TRUE NA +ENSG00000185519.9 . BCM GRCh38.p13 chr1 16060006 16060006 + A A G Missense_Mutation SNP ENST00000375662.5 exon5 c.T314C p.M105T exonic ENSG00000185519.9 . nonsynonymous SNV ENSG00000185519.9:ENST00000375662.5:exon5:c.T314C:p.M105T 1p36.13 C3L-01861 4.932e-05 0 0 0 0 8.986e-05 0 0 rs200418963 12.20 D D D D D D M T D 0.644 T T D 0.335 0.598 0.426 1.387 T T T T D T 3.736 25.600 0.990 D D 0.563 5.567 0.494 5.104 0.076 0.615 0.590 0.659 0.586 . 4.940 3.770 6.812 1.311 0.754 1.000 1.000 0.995 561 . . . ID=COSV65153472;OCCURENCE=1(urinary_tract) FAM131C 81 0 66 4 0.0571428571428571 NA TRUE +ENSG00000042781.14 . BCM GRCh38.p13 chr1 216418662 216418662 + G G A Missense_Mutation SNP ENST00000307340.8 exon3 c.C503T p.T168I exonic ENSG00000042781.14 . nonsynonymous SNV ENSG00000042781.14:ENST00000307340.8:exon3:c.C503T:p.T168I 1q41 C3L-01861 2.476e-05 0 0.0002 0 0 1.5e-05 0 0 rs754523763 3.20 T D B B U N L T N 0.498 T T D 0.049 0.360 0.844 0.097 T T T T T T 1.212 13.730 0.954 D N -0.473 1.229 -0.425 1.329 0.000 0.487 0.574 0.547 0.564 . 5.620 2.770 2.153 1.176 0.676 0.977 0.941 0.865 647 LamG-like_jellyroll_fold . . ID=COSV56403480;OCCURENCE=1(lung) USH2A 291 1 246 69 0.219047619047619 TRUE TRUE +ENSG00000116903.7 . BCM GRCh38.p13 chr1 231336841 231336841 + G G T Missense_Mutation SNP ENST00000366645.1 exon1 c.C905A p.P302H exonic ENSG00000116903.7 . nonsynonymous SNV ENSG00000116903.7:ENST00000366645.1:exon1:c.C905A:p.P302H 1q42.2 C3L-01861 . . . . . . . . . 4.17 . T B B D D L . . 0.147 T T T 0.198 0.218 0.303 . T T T T D T 2.434 22.200 0.984 D N -0.115 2.126 0.047 2.527 1.000 0.628 0.672 0.695 0.665 . 5.550 5.550 4.321 1.176 0.676 0.992 0.543 0.694 673 . . . . EXOC8 289 2 215 55 0.203703703703704 TRUE TRUE +ENSG00000134318.14 . BCM GRCh38.p13 chr2 11215072 11215072 + A A T Missense_Mutation SNP ENST00000315872.11 exon16 c.T1704A p.N568K exonic ENSG00000134318.14 . nonsynonymous SNV ENSG00000134318.14:ENST00000315872.11:exon16:c.T1704A:p.N568K 2p25.1 C3L-01861 . . . . . . . . . 8.20 T T B B D D M T D 0.376 T T T 0.137 0.215 0.575 0.681 T T T T D D 2.838 23.100 0.988 D D -0.103 2.165 0.027 2.454 1.000 0.707 0.654 0.609 0.714 . 5.000 5.000 2.320 1.312 0.756 1.000 0.999 0.998 952 Rho-associated_protein_kinase_2,_HR1_domain . . . ROCK2 183 0 158 39 0.197969543147208 TRUE TRUE +ENSG00000196811.13 . BCM GRCh38.p13 chr2 232541507 232541507 + C C A Missense_Mutation SNP ENST00000651502.1 exon5 c.C484A p.Q162K exonic ENSG00000196811.13 . nonsynonymous SNV ENSG00000196811.13:ENST00000651502.1:exon5:c.C484A:p.Q162K 2q37.1 C3L-01861 . . . . . . . . . 19.20 D D D D D D H D D 0.888 D D D 0.956 0.870 0.929 0.665 T D D D D D 3.841 26.000 0.996 D D 0.954 12.533 0.839 11.365 1.000 0.421 0.551 0.514 0.646 . 4.750 4.750 7.905 1.026 0.599 1.000 1.000 0.999 917 Neurotransmitter-gated_ion-channel,_conserved_site;Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . CHRNG 311 0 256 60 0.189873417721519 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142014 10142014 + C C - Frame_Shift_Del DEL ENST00000256474.3 exon1 c.167delC p.R58Gfs*9 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.167delC:p.R58Gfs*9 3p25.3 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 230 0 137 45 0.247252747252747 TRUE TRUE +ENSG00000131381.12 . BCM GRCh38.p13 chr3 15085011 15085011 + G G T Missense_Mutation SNP ENST00000253699.7 exon7 c.C425A p.A142E exonic ENSG00000131381.12 . nonsynonymous SNV ENSG00000131381.12:ENST00000253699.7:exon7:c.C425A:p.A142E 3p25.1 C3L-01861 . . . . . . . . . 7.20 T T B B D D L T N 0.485 T T D 0.166 0.380 0.414 0.522 T T T T D D 2.914 23.200 0.834 D D -0.119 2.116 -0.030 2.260 1.000 0.651 0.654 0.651 0.636 . 5.560 5.560 6.559 1.121 0.676 1.000 0.958 0.428 485 . . . . RBSN 248 0 146 8 0.051948051948052 TRUE TRUE +ENSG00000170248.15 . BCM GRCh38.p13 chr3 33798759 33798759 + A A G Missense_Mutation SNP ENST00000307296.8 exon1 c.A31G p.K11E exonic ENSG00000170248.15 . nonsynonymous SNV ENSG00000170248.15:ENST00000307296.8:exon1:c.A31G:p.K11E 3p22.3 C3L-01861 . . . . . . . . . 13.20 D D P P D D M T D 0.755 T T D 0.310 0.451 0.732 1.062 T T D D D D 4.322 29.800 0.998 D D 0.536 5.328 0.595 6.164 1.000 0.442 0.522 0.522 0.562 . 5.550 5.550 8.778 1.312 0.691 1.000 0.997 0.985 502 BRO1_domain . . . PDCD6IP 63 0 46 15 0.245901639344262 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52603675 52603686 + AATTTTAATAAA AATTTTAATAAA - In_Frame_Del DEL ENST00000296302.11 exon17 c.2614_2625del p.F872_I875del exonic ENSG00000163939.18 . nonframeshift deletion ENSG00000163939.18:ENST00000296302.11:exon17:c.2614_2625del:p.F872_I875del 3p21.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 390 0 204 49 0.193675889328063 TRUE TRUE +ENSG00000163507.14 . BCM GRCh38.p13 chr3 108582175 108582175 + A A G Missense_Mutation SNP ENST00000295746.13 exon4 c.T385C p.Y129H exonic ENSG00000163507.14 . nonsynonymous SNV ENSG00000163507.14:ENST00000295746.13:exon4:c.T385C:p.Y129H 3q13.13 C3L-01861 . . . . . . . . . 14.19 D D D D D D M T D 0.883 T T D 0.673 0.792 0.683 0.741 T T D D D D 3.983 26.900 0.999 D . 0.766 8.151 0.743 8.637 1.000 0.732 0.744 0.710 0.714 . 5.520 5.520 7.578 1.312 0.756 1.000 0.999 0.981 818 . . . . CIP2A 100 0 51 19 0.271428571428571 TRUE TRUE +ENSG00000138709.19 . BCM GRCh38.p13 chr4 128091097 128091097 + - NA A Frame_Shift_Ins NA ENST00000326639.11 exon6 c.456dupA p.R153Kfs*19 exonic ENSG00000138709.19 . frameshift insertion ENSG00000138709.19:ENST00000326639.11:exon6:c.456dupA:p.R153Kfs*19 4q28.2 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LARP1B NA NA NA NA NA NA NA +ENSG00000131711.15 . BCM GRCh38.p13 chr5 72200205 72200205 + G G C Missense_Mutation SNP ENST00000296755.12 exon5 c.G6850C p.V2284L exonic ENSG00000131711.15 . nonsynonymous SNV ENSG00000131711.15:ENST00000296755.12:exon5:c.G6850C:p.V2284L 5q13.2 C3L-01861 . . . . . . . . . 3.20 T T B B N N L T N 0.130 T T T 0.060 0.203 0.394 0.246 T T T T D T 2.072 19.810 0.981 D D -0.096 2.188 0.061 2.579 1.000 0.707 0.563 0.725 0.711 . 5.840 3.970 4.827 1.176 0.676 1.000 0.998 0.897 234 . . . . MAP1B 335 0 264 81 0.234782608695652 TRUE NA +ENSG00000078795.16 . BCM GRCh38.p13 chr5 137935804 137935804 + A A C Missense_Mutation SNP ENST00000508883.5 exon13 c.A1679C p.Q560P exonic ENSG00000078795.16 . nonsynonymous SNV ENSG00000078795.16:ENST00000508883.5:exon13:c.A1679C:p.Q560P 5q31.2 C3L-01861 . . . . . . . . . 4.20 T T P P N N M T N 0.642 T T D 0.181 0.240 0.760 0.345 T T D T T T 1.789 17.650 0.977 D N -0.011 2.474 0.041 2.505 1.000 0.241 0.576 0.514 0.728 . 5.630 3.250 0.427 1.312 0.756 0.991 0.984 0.982 174 . . . . PKD2L2 136 0 97 25 0.204918032786885 TRUE TRUE +ENSG00000170613.4 . BCM GRCh38.p13 chr5 157166117 157166117 + T T C Missense_Mutation SNP ENST00000302938.4 exon1 c.A52G p.M18V exonic ENSG00000170613.4 . nonsynonymous SNV ENSG00000170613.4:ENST00000302938.4:exon1:c.A52G:p.M18V 5q33.3 C3L-01861 8.246e-06 0 0 0 0 1.5e-05 0 0 rs763029396 0.20 T T B B N N N T N 0.153 T T T 0.025 0.232 0.085 0.102 T T T T T T -0.074 0.939 0.749 N N -1.065 0.339 -1.020 0.465 0.017 0.487 0.547 0.574 0.564 . 4.860 2.360 0.236 0.202 0.665 0.001 0.246 0.608 509 . . . ID=COSV100262263;OCCURENCE=1(upper_aerodigestive_tract) FAM71B 177 0 149 35 0.190217391304348 TRUE NA +ENSG00000124574.15 . BCM GRCh38.p13 chr6 43449458 43449458 + C C T Nonsense_Mutation SNP ENST00000372530.9 exon21 c.C4240T p.Q1414X exonic ENSG00000124574.15 . stopgain ENSG00000124574.15:ENST00000372530.9:exon21:c.C4240T:p.Q1414X 6p21.1 C3L-01861 8.267e-06 0 0 0 0 0 0 6.145e-05 rs759919213 5.6 . . . . D A . . . 0.911 . . . . . . . . . D D . . 8.200 41 0.997 D N 1.117 18.284 0.977 17.486 1.000 0.706 0.725 0.710 0.714 . 5.320 5.320 7.905 1.026 0.599 1.000 1.000 0.992 335 ABC_transporter-like;AAA+_ATPase_domain . . . ABCC10 141 0 93 27 0.225 TRUE NA +ENSG00000080007.8 . BCM GRCh38.p13 chr6 73407987 73407987 + - NA T Nonsense_Mutation SNP ENST00000370336.5 exon9 c.1065_1066insT p.D356* exonic ENSG00000080007.8 . stopgain ENSG00000080007.8:ENST00000370336.5:exon9:c.1065_1066insT:p.D356* 6q13 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDX43 NA NA NA NA NA NA NA +ENSG00000075213.11 . BCM GRCh38.p13 chr7 84110483 84110483 + C C T Missense_Mutation SNP ENST00000265362.9 exon4 c.G440A p.G147E exonic ENSG00000075213.11 . nonsynonymous SNV ENSG00000075213.11:ENST00000265362.9:exon4:c.G440A:p.G147E 7q21.11 C3L-01861 . . . . . . . . . 14.20 D D D D D D L T D 0.865 T T D 0.552 0.571 0.605 1.067 T T D D D D 4.090 27.700 0.998 D D 0.820 9.180 0.823 10.836 1.000 0.695 0.574 0.581 0.568 . 5.750 5.750 7.514 1.026 0.599 1.000 1.000 0.998 642 Sema_domain . . . SEMA3A 226 0 166 49 0.227906976744186 TRUE NA +ENSG00000005981.13 . BCM GRCh38.p13 chr7 95495790 95495790 + T T G Missense_Mutation SNP ENST00000325885.6 exon2 c.T220G p.S74A exonic ENSG00000005981.13 . nonsynonymous SNV ENSG00000005981.13:ENST00000325885.6:exon2:c.T220G:p.S74A 7q21.3 C3L-01861 . . . . . . . . . 7.20 T D P P D D L T N 0.590 T T D 0.169 0.411 0.732 0.317 T T T T D T 3.185 23.800 0.997 D D 0.490 4.956 0.548 5.633 1.000 0.497 0.547 0.547 0.542 . 5.350 5.350 7.404 1.138 0.665 1.000 0.998 0.988 861 Ankyrin_repeat-containing_domain . . . ASB4 159 0 138 30 0.178571428571429 TRUE TRUE +ENSG00000171044.11 . BCM GRCh38.p13 chr8 11200811 11200825 + GCACCAGCAGCGACG GCACCAGCAGCGACG - In_Frame_Del DEL ENST00000416569.3 exon1 c.515_529del p.P172_V176del exonic ENSG00000171044.11 . nonframeshift deletion ENSG00000171044.11:ENST00000416569.3:exon1:c.515_529del:p.P172_V176del 8p23.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XKR6 425 0 189 71 0.273076923076923 TRUE TRUE +ENSG00000148019.14 . BCM GRCh38.p13 chr9 78243591 78243591 + G G T Missense_Mutation SNP ENST00000424347.6 exon5 c.G733T p.A245S exonic ENSG00000148019.14 . nonsynonymous SNV ENSG00000148019.14:ENST00000424347.6:exon5:c.G733T:p.A245S 9q21.2 C3L-01861 . . . . . . . . . 13.20 D D D D D D M T N 0.699 T T T 0.230 0.497 0.801 0.109 T T D D D D 3.281 24.100 0.997 D D 0.659 6.583 0.626 6.569 1.000 0.732 0.744 0.744 0.734 . 5.700 5.700 6.946 1.176 0.676 1.000 0.996 0.925 970 . . . . CEP78 223 0 120 31 0.205298013245033 TRUE TRUE +ENSG00000148143.13 . BCM GRCh38.p13 chr9 106927622 106927637 + GCGACCGAAATCAGAA GCGACCGAAATCAGAA - Nonsense_Mutation DEL ENST00000277225.10 exon3 c.3710_3725del p.C1237* exonic ENSG00000148143.13 . stopgain ENSG00000148143.13:ENST00000277225.10:exon3:c.3710_3725del:p.C1237* 9q31.2 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF462 376 0 213 49 0.187022900763359 TRUE TRUE +ENSG00000162105.19 . BCM GRCh38.p13 chr11 70473194 70473194 + C C T Missense_Mutation SNP ENST00000656230.1 exon16 c.G4088A p.S1363N exonic ENSG00000162105.19 . nonsynonymous SNV ENSG00000162105.19:ENST00000656230.1:exon16:c.G4088A:p.S1363N 11q13.3 C3L-01861 . . . . . . . . . 8.19 D T D P D D . T N 0.201 T T T 0.077 . 0.155 0.581 T T T T D D 2.066 19.750 0.997 D D 0.545 5.403 0.603 6.263 1.000 0.706 0.547 0.710 0.613 . 5.910 5.910 3.719 1.026 0.599 1.000 1.000 0.999 934 . . . . SHANK2 108 1 102 24 0.19047619047619 TRUE TRUE +ENSG00000165494.11 . BCM GRCh38.p13 chr11 83166656 83166656 + A A G Missense_Mutation SNP ENST00000298281.8 exon5 c.A1759G p.N587D exonic ENSG00000165494.11 . nonsynonymous SNV ENSG00000165494.11:ENST00000298281.8:exon5:c.A1759G:p.N587D 11q14.1 C3L-01861 . . . . . . . . . 7.20 T T D D D N M T N 0.537 T T T 0.115 0.145 0.708 0.202 T T T T D D 3.162 23.800 0.997 D N 0.548 5.432 0.621 6.495 1.000 0.707 0.702 0.725 0.711 . 6.070 6.070 6.648 1.312 0.756 1.000 0.997 0.996 366 . . . . PCF11 186 0 117 36 0.235294117647059 TRUE TRUE +ENSG00000178202.13 . BCM GRCh38.p13 chr11 108486276 108486276 + C C G Missense_Mutation SNP ENST00000323468.10 exon3 c.G565C p.E189Q exonic ENSG00000178202.13 . nonsynonymous SNV ENSG00000178202.13:ENST00000323468.10:exon3:c.G565C:p.E189Q 11q22.3 C3L-01861 . . . . . . . . . 2.19 T T P B D N . T N 0.088 T T T 0.060 0.346 0.444 0.218 T T T T T T 1.028 11.970 0.123 D N -0.101 2.173 -0.015 2.307 0.194 0.706 0.725 0.710 0.714 . 4.680 4.680 1.117 1.026 0.599 0.254 0.813 0.638 740 . . . . POGLUT3 372 0 263 67 0.203030303030303 TRUE TRUE +ENSG00000149571.12 . BCM GRCh38.p13 chr11 126431494 126431494 + C C - Frame_Shift_Del DEL ENST00000525144.7 exon14 c.1621delG p.A541Pfs*2 exonic ENSG00000149571.12 . frameshift deletion ENSG00000149571.12:ENST00000525144.7:exon14:c.1621delG:p.A541Pfs*2 11q24.2 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIRREL3 218 0 122 35 0.222929936305732 TRUE TRUE +ENSG00000004700.16 . BCM GRCh38.p13 chr12 21471096 21471096 + T T G Missense_Mutation SNP ENST00000444129.7 exon14 c.A1670C p.E557A exonic ENSG00000004700.16 . nonsynonymous SNV ENSG00000004700.16:ENST00000444129.7:exon14:c.A1670C:p.E557A 12p12.1 C3L-01861 . . . . . . . . . 16.20 D D D D D D M T D 0.665 T T D 0.504 0.498 0.730 0.369 T D D D D D 4.554 32 0.997 D D 0.845 9.719 0.799 10.080 1.000 0.706 0.725 0.710 0.714 . 5.630 5.630 6.607 1.030 0.644 1.000 1.000 0.999 776 . . . . RECQL 143 0 94 26 0.216666666666667 NA TRUE +ENSG00000198812.5 . BCM GRCh38.p13 chr12 69610545 69610545 + T T - Frame_Shift_Del DEL ENST00000361484.5 exon1 c.294delA p.K98Nfs*20 exonic ENSG00000198812.5 . frameshift deletion ENSG00000198812.5:ENST00000361484.5:exon1:c.294delA:p.K98Nfs*20 12q15 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC10 303 0 200 43 0.176954732510288 TRUE TRUE +ENSG00000111615.14 . BCM GRCh38.p13 chr12 75508419 75508419 + T T C Missense_Mutation SNP ENST00000229214.9 exon2 c.A113G p.D38G exonic ENSG00000111615.14 . nonsynonymous SNV ENSG00000111615.14:ENST00000229214.9:exon2:c.A113G:p.D38G 12q21.2 C3L-01861 . . . . . . . . . 14.20 D D P B D D M T D 0.657 T T D 0.385 0.355 0.457 0.197 T D D D D D 3.474 24.600 0.997 D D 0.689 6.963 0.704 7.826 1.000 0.719 0.663 0.644 0.734 . 5.850 5.850 7.567 1.118 0.665 1.000 1.000 0.997 884 . . . . KRR1 166 0 95 20 0.173913043478261 TRUE TRUE +ENSG00000175820.4 . BCM GRCh38.p13 chr13 102748979 102748979 + C C G Missense_Mutation SNP ENST00000322527.4 exon4 c.G1718C p.G573A exonic ENSG00000175820.4 . nonsynonymous SNV ENSG00000175820.4:ENST00000322527.4:exon4:c.G1718C:p.G573A 13q33.1 C3L-01861 . . . . . . . . . 0.5 . T . . . . . . . 0.121 . . . . . 0.061 . T . T T . . 0.396 5.381 0.640 N . . . . . 0.842 0.061 0.063 0.063 0.057 0.287 4.440 -1.840 -0.186 -0.224 -0.202 0.000 0.186 0.686 934 . . . . CCDC168 291 0 227 48 0.174545454545455 TRUE TRUE +ENSG00000185950.9 . BCM GRCh38.p13 chr13 109784294 109784294 + A A G Missense_Mutation SNP ENST00000375856.5 exon1 c.T1760C p.V587A exonic ENSG00000185950.9 . nonsynonymous SNV ENSG00000185950.9:ENST00000375856.5:exon1:c.T1760C:p.V587A 13q34 C3L-01861 . . . . . . . . . 1.20 T T B B U N L T N 0.044 T T T 0.041 0.150 0.174 . T T T T T T 1.704 17.050 0.504 D N -0.594 0.998 -0.501 1.200 1.000 0.726 0.588 0.594 0.604 . 3.900 3.900 1.323 1.207 0.639 0.013 0.968 0.935 969 . . . . IRS2 88 0 60 17 0.220779220779221 TRUE TRUE +ENSG00000104093.13 . BCM GRCh38.p13 chr15 51499605 51499605 + T T C Missense_Mutation SNP ENST00000251076.9 exon18 c.A3619G p.S1207G exonic ENSG00000104093.13 . nonsynonymous SNV ENSG00000104093.13:ENST00000251076.9:exon18:c.A3619G:p.S1207G 15q21.2 C3L-01861 . . . . . . . . . 4.18 T . B B D D L T N 0.247 T T T 0.084 0.267 0.270 0.188 T T T T T D 2.264 21.300 0.919 D . -0.376 1.437 -0.153 1.904 0.997 0.658 0.704 0.673 0.573 . 5.570 3.250 3.537 1.135 0.604 1.000 1.000 0.994 512 RAVE_complex_protein_Rav1_C-terminal . . . DMXL2 422 0 327 67 0.17005076142132 TRUE TRUE +ENSG00000138617.15 . BCM GRCh38.p13 chr15 65260996 65260996 + C C G Missense_Mutation SNP ENST00000649807.1 exon5 c.G722C p.R241T exonic ENSG00000138617.15 . nonsynonymous SNV ENSG00000138617.15:ENST00000649807.1:exon5:c.G722C:p.R241T 15q22.31 C3L-01861 . . . . . . . . . 11.20 T D D P D D M T N 0.841 T T T 0.263 0.510 0.429 0.758 T T D D D D 3.595 25.000 0.970 D D 0.495 4.994 0.464 4.847 1.000 0.706 0.725 0.710 0.684 . 5.210 5.210 7.779 1.026 0.599 1.000 0.975 0.920 565 Poly(ADP-ribose)_polymerase,_catalytic_domain . . . PARP16 155 0 110 27 0.197080291970803 TRUE TRUE +ENSG00000167984.18 . BCM GRCh38.p13 chr16 3563960 3563960 + C C T Missense_Mutation SNP ENST00000359128.10 exon5 c.G977A p.C326Y exonic ENSG00000167984.18 . nonsynonymous SNV ENSG00000167984.18:ENST00000359128.10:exon5:c.G977A:p.C326Y 16p13.3 C3L-01861 2.656e-05 0 0 0 0 4.728e-05 0 0 rs369331984 15.17 D D . . D D . D D 0.910 D D D 0.643 . 0.584 . T T D D D D 3.518 24.800 0.979 D D 0.104 2.904 0.223 3.296 1.000 0.116 0.126 0.072 0.083 . 5.010 5.010 3.964 1.026 0.599 1.000 0.974 0.881 600 . . . . NLRC3 73 0 89 19 0.175925925925926 TRUE NA +ENSG00000153066.12 . BCM GRCh38.p13 chr16 11742553 11742553 + G G A Missense_Mutation SNP ENST00000356957.7 exon1 c.C178T p.R60C exonic ENSG00000153066.12 . nonsynonymous SNV ENSG00000153066.12:ENST00000356957.7:exon1:c.C178T:p.R60C 16p13.13 C3L-01861 . . . . . . . . . 8.20 D T D D N D L T N 0.353 T T D 0.166 0.425 0.473 0.079 D T T T D T 3.533 24.800 0.983 D N -0.076 2.253 -0.134 1.952 1.000 0.442 0.522 0.240 0.373 . 3.310 2.350 2.072 0.054 -0.422 1.000 0.993 0.241 929 . . . . TXNDC11 90 1 110 23 0.172932330827068 TRUE NA +ENSG00000109111.15 . BCM GRCh38.p13 chr17 28678838 28678838 + C C G Missense_Mutation SNP ENST00000314616.11 exon11 c.C1224G p.I408M exonic ENSG00000109111.15 . nonsynonymous SNV ENSG00000109111.15:ENST00000314616.11:exon11:c.C1224G:p.I408M 17q11.2 C3L-01861 . . . . . . . . . 3.20 T T B B D D N T N 0.463 T T T 0.063 0.324 0.189 0.637 T T T T T T 1.624 16.530 0.949 D N -0.226 1.805 -0.048 2.203 0.003 0.707 0.702 0.702 0.714 . 5.970 3.990 0.539 0.085 0.530 0.997 0.999 0.998 255 Helix-turn-helix_DNA-binding_domain_of_Spt6 . . . SUPT6H 196 0 181 43 0.191964285714286 TRUE TRUE +ENSG00000141314.13 . BCM GRCh38.p13 chr17 32321024 32321030 + ACCCAAG ACCCAAG - Frame_Shift_Del DEL ENST00000269051.9 exon9 c.1010_1016del p.H337Pfs*20 exonic ENSG00000141314.13 . frameshift deletion ENSG00000141314.13:ENST00000269051.9:exon9:c.1010_1016del:p.H337Pfs*20 17q11.2 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RHBDL3 270 1 190 61 0.243027888446215 TRUE TRUE +ENSG00000273559.5 . BCM GRCh38.p13 chr17 38814872 38814872 + - NA A Frame_Shift_Ins NA ENST00000614790.5 exon3 c.416dupT p.F140Lfs*17 exonic ENSG00000273559.5 . frameshift insertion ENSG00000273559.5:ENST00000614790.5:exon3:c.416dupT:p.F140Lfs*17 17q12 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CWC25 NA NA NA NA NA NA NA +ENSG00000188612.12 . BCM GRCh38.p13 chr17 75168391 75168391 + T T A Missense_Mutation SNP ENST00000420826.7 exon4 c.A236T p.E79V exonic ENSG00000188612.12 . nonsynonymous SNV ENSG00000188612.12:ENST00000420826.7:exon4:c.A236T:p.E79V 17q25.1 C3L-01861 . . . . . . . . . 12.18 D D P P . D . T D 0.707 T T D 0.382 0.569 0.812 2.873 D T D D D D 4.286 29.500 0.935 D D 0.575 5.675 0.633 6.663 1.000 0.732 0.744 0.725 0.714 . 5.690 5.690 7.121 1.102 0.665 1.000 1.000 0.999 834 Ubiquitin_domain;Rad60/SUMO-like_domain;Sumo_domain . . . SUMO2 234 1 153 23 0.130681818181818 TRUE TRUE +ENSG00000154864.12 . BCM GRCh38.p13 chr18 10784857 10784857 + A A G Missense_Mutation SNP ENST00000503781.7 exon17 c.T2419C p.Y807H exonic ENSG00000154864.12 . nonsynonymous SNV ENSG00000154864.12:ENST00000503781.7:exon17:c.T2419C:p.Y807H 18p11.22 C3L-01861 . . . . . . . . . 15.20 D D D D U D M T D 0.804 T T D 0.563 0.763 0.143 1.166 D T D D D D 4.193 28.600 0.983 D D 0.888 10.748 0.841 11.437 1.000 0.707 0.725 0.650 0.639 . 5.350 5.350 8.867 1.301 0.756 1.000 0.994 0.997 799 . . . . PIEZO2 164 0 130 26 0.166666666666667 TRUE TRUE +ENSG00000172081.14 . BCM GRCh38.p13 chr19 2078274 2078274 + T T - Frame_Shift_Del DEL ENST00000357066.8 exon3 c.287delA p.K96Sfs*27 exonic ENSG00000172081.14 . frameshift deletion ENSG00000172081.14:ENST00000357066.8:exon3:c.287delA:p.K96Sfs*27 19p13.3 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MOB3A 262 0 164 45 0.215311004784689 TRUE TRUE +ENSG00000278318.5 . BCM GRCh38.p13 chr19 44428980 44428980 + C C T Missense_Mutation SNP ENST00000614049.5 exon6 c.G1801A p.V601M exonic ENSG00000278318.5 . nonsynonymous SNV ENSG00000278318.5:ENST00000614049.5:exon6:c.G1801A:p.V601M 19q13.31 C3L-01861 4.137e-05 0 0 0 0 7.494e-05 0 0 rs372929381 2.12 . D . . . N . . . 0.091 T T T 0.023 . 0.095 . T . T T T D 1.057 12.310 0.943 N N -1.821 0.021 -1.970 0.016 0.999 0.638 0.574 0.653 0.636 . 3.500 -7.000 -5.613 -3.450 -1.082 0.000 0.000 0.038 912 Zinc_finger_C2H2-type . . . ZNF229 168 1 151 59 0.280952380952381 TRUE NA +ENSG00000104972.15 . BCM GRCh38.p13 chr19 54631546 54631546 + C C - Frame_Shift_Del DEL ENST00000427581.6 exon3 c.225delC p.T76Pfs*6 exonic ENSG00000104972.15 . frameshift deletion ENSG00000104972.15:ENST00000427581.6:exon3:c.225delC:p.T76Pfs*6 19q13.42 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LILRB1 154 0 152 29 0.160220994475138 NA TRUE +ENSG00000241690.3 . BCM GRCh38.p13 chr20 2815393 2815393 + C C A Missense_Mutation SNP ENST00000380589.4 exon1 c.C209A p.P70Q exonic ENSG00000241690.3;ENSG00000258713.2 . nonsynonymous SNV ENSG00000258713.2:ENST00000380589.4:exon1:c.C209A:p.P70Q,ENSG00000241690.3:ENST00000380593.4:exon2:c.C209A:p.P70Q 20p13 C3L-01861 . . . . . . . . . 4.18 D T D P N N L . D 0.365 T T T 0.040 0.472 0.030 0.250 . T T T D T 1.937 18.780 0.979 N N -0.298 1.620 -0.411 1.353 1.000 0.497 0.590 0.578 0.613 . 4.730 1.640 -0.073 -0.220 -0.183 0.004 0.258 0.026 520 . . . . AL035460.1 59 1 49 15 0.234375 TRUE TRUE +ENSG00000101343.14 . BCM GRCh38.p13 chr20 20037443 20037443 + C C T Missense_Mutation SNP ENST00000377340.6 exon14 c.G2259A p.M753I exonic ENSG00000101343.14 . nonsynonymous SNV ENSG00000101343.14:ENST00000377340.6:exon14:c.G2259A:p.M753I 20p11.23 C3L-01861 . . . . . . . . . 6.20 T T B B D D L T N 0.669 T T T 0.161 0.325 0.515 0.302 T T T T D D 2.551 22.500 0.985 D D 0.020 2.582 0.220 3.283 1.000 0.722 0.725 0.725 0.735 . 5.020 5.020 7.533 1.026 0.549 1.000 0.999 0.996 741 . . . . CRNKL1 473 0 310 84 0.213197969543147 TRUE TRUE +ENSG00000130684.14 . BCM GRCh38.p13 chr20 25676264 25676264 + G G A Missense_Mutation SNP ENST00000252979.6 exon5 c.C1024T p.H342Y exonic ENSG00000130684.14 . nonsynonymous SNV ENSG00000130684.14:ENST00000252979.6:exon5:c.C1024T:p.H342Y 20p11.21 C3L-01861 . . . . . . . . . 9.19 D D D D . N H T D 0.303 T D T 0.253 0.807 0.794 0.312 T T T T D T 2.284 21.500 0.989 D N 0.366 4.139 0.097 2.724 0.999 0.719 0.723 0.725 0.711 . 1.340 1.340 7.151 0.548 0.495 1.000 0.996 0.765 730 Zinc_finger_C2H2-type . . ID=COSV53323393;OCCURENCE=1(large_intestine) ZNF337 249 0 201 45 0.182926829268293 TRUE TRUE +ENSG00000184381.20 . BCM GRCh38.p13 chr22 38115661 38115661 + C C T Missense_Mutation SNP ENST00000332509.8 exon14 c.G1900A p.A634T exonic ENSG00000184381.20 . nonsynonymous SNV ENSG00000184381.20:ENST00000332509.8:exon14:c.G1900A:p.A634T 22q13.1 C3L-01861 . . . . . . . . . 18.20 D D D D D D M T D 0.911 D D D 0.747 0.472 0.958 0.843 T D D D D D 3.868 26.200 0.999 D D 0.788 8.550 0.713 8.010 1.000 0.706 0.710 0.723 0.605 . 4.530 4.530 7.389 1.026 0.599 1.000 0.998 0.978 389 Patatin-like_phospholipase_domain . . . PLA2G6 186 0 158 24 0.131868131868132 TRUE TRUE +ENSG00000100427.16 . BCM GRCh38.p13 chr22 50077483 50077483 + A A T Missense_Mutation SNP ENST00000311597.10 exon6 c.T443A p.L148Q exonic ENSG00000100427.16 . nonsynonymous SNV ENSG00000100427.16:ENST00000311597.10:exon6:c.T443A:p.L148Q 22q13.33 C3L-01861 . . . . . . . . . 17.20 D D D D D D L D D 0.914 D D D 0.890 0.648 0.870 0.913 T T D D D D 4.487 32 0.993 D D 0.694 7.036 0.639 6.743 0.817 0.517 0.588 0.604 0.553 . 4.520 4.520 7.484 1.145 0.756 1.000 0.993 0.992 940 . . . . MLC1 463 1 343 66 0.161369193154034 TRUE TRUE +ENSG00000117262.19 . BCM GRCh38.p13 chr1 145618406 145618406 + A A G Silent SNP ENST00000313835.14 exon3 c.A189G p.L63L exonic ENSG00000117262.19 . synonymous SNV ENSG00000117262.19:ENST00000313835.14:exon3:c.A189G:p.L63L 1q21.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR89A 102 0 45 12 0.210526315789474 NA TRUE +ENSG00000203730.3 . BCM GRCh38.p13 chr1 182399688 182399688 + G G C Silent SNP ENST00000367565.2 exon1 c.C798G p.L266L exonic ENSG00000203730.3 . synonymous SNV ENSG00000203730.3:ENST00000367565.2:exon1:c.C798G:p.L266L 1q25.3 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TEDDM1 175 0 150 44 0.22680412371134 TRUE TRUE +ENSG00000180667.10 . BCM GRCh38.p13 chr1 207050929 207050929 + C C T Silent SNP ENST00000315927.8 exon1 c.G102A p.A34A exonic ENSG00000180667.10 . synonymous SNV ENSG00000180667.10:ENST00000315927.8:exon1:c.G102A:p.A34A 1q32.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YOD1 109 0 119 16 0.118518518518519 TRUE TRUE +ENSG00000081479.15 . BCM GRCh38.p13 chr2 169209541 169209541 + A A T Silent SNP ENST00000649046.1 exon38 c.T6381A p.I2127I exonic ENSG00000081479.15 . synonymous SNV ENSG00000081479.15:ENST00000649046.1:exon38:c.T6381A:p.I2127I 2q31.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP2 431 1 287 75 0.207182320441989 TRUE TRUE +ENSG00000081479.15 . BCM GRCh38.p13 chr2 169212002 169212002 + A A G Silent SNP ENST00000649046.1 exon37 c.T6246C p.D2082D exonic ENSG00000081479.15 . synonymous SNV ENSG00000081479.15:ENST00000649046.1:exon37:c.T6246C:p.D2082D 2q31.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP2 357 0 267 69 0.205357142857143 TRUE TRUE +ENSG00000156976.17 . BCM GRCh38.p13 chr3 186784963 186784963 + G G T Silent SNP ENST00000323963.10 exon4 c.G210T p.G70G exonic ENSG00000156976.17 . synonymous SNV ENSG00000156976.17:ENST00000323963.10:exon4:c.G210T:p.G70G 3q27.3 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF4A2 231 3 168 10 0.0561797752808989 TRUE NA +ENSG00000120519.15 . BCM GRCh38.p13 chr4 146294036 146294036 + G G T Silent SNP ENST00000335472.12 exon8 c.C615A p.I205I exonic ENSG00000120519.15 . synonymous SNV ENSG00000120519.15:ENST00000335472.12:exon8:c.C615A:p.I205I 4q31.22 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC10A7 152 0 116 10 0.0793650793650794 TRUE TRUE +ENSG00000131187.9 . BCM GRCh38.p13 chr5 177405088 177405088 + A A T Silent SNP ENST00000253496.3 exon6 c.T495A p.G165G exonic ENSG00000131187.9 . synonymous SNV ENSG00000131187.9:ENST00000253496.3:exon6:c.T495A:p.G165G 5q35.3 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F12 581 0 430 103 0.193245778611632 TRUE TRUE +ENSG00000121236.21 . BCM GRCh38.p13 chr11 5610820 5610820 + C C A Silent SNP ENST00000278302.9 exon8 c.C945A p.V315V exonic ENSG00000121236.21 . synonymous SNV ENSG00000121236.21:ENST00000278302.9:exon8:c.C945A:p.V315V 11p15.4 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM6 215 0 173 51 0.227678571428571 TRUE TRUE +ENSG00000034152.19 . BCM GRCh38.p13 chr17 21305074 21305074 + G G A Silent SNP ENST00000342679.9 exon9 c.G720A p.L240L exonic ENSG00000034152.19 . synonymous SNV ENSG00000034152.19:ENST00000342679.9:exon9:c.G720A:p.L240L 17p11.2 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57567395;OCCURENCE=1(skin) MAP2K3 488 0 419 50 0.106609808102345 NA TRUE +ENSG00000089006.16 . BCM GRCh38.p13 chr20 17950352 17950352 + G G A Silent SNP ENST00000377768.7 exon8 c.C654T p.N218N exonic ENSG00000089006.16 . synonymous SNV ENSG00000089006.16:ENST00000377768.7:exon8:c.C654T:p.N218N 20p11.23 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX5 257 0 184 35 0.159817351598174 TRUE TRUE +ENSG00000130414.12 . BCM GRCh38.p13 chr2 239983711 239983711 + C C G Intron SNP NA NA NA NA intronic ENSG00000130414.12 . . . 2q37.3 C3L-01861 . . . . . . . . . 2.14 D D . . U N . T N 0.151 T T T 0.242 0.674 0.361 . . . T T T . 0.040 1.605 0.734 N N -0.772 0.696 -1.030 0.453 1.000 0.372 0.546 0.547 0.714 . 1.330 -0.723 -0.076 -0.567 -0.248 0.000 0.001 0.017 952 . . . . NDUFA10 160 0 124 22 0.150684931506849 TRUE TRUE +ENSG00000024048.10 . BCM GRCh38.p13 chr6 42658637 42658637 + - NA A Intron SNP NA NA NA NA intronic ENSG00000024048.10 . . . 6p21.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBR2 NA NA NA NA NA NA NA +ENSG00000252639.1 . BCM GRCh38.p13 chr10 27195235 27195235 + T T - IGR SNP NA NA NA NA intergenic ENSG00000252639.1;ENSG00000107897.19 dist=1735;dist=2118 . . 10p12.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNU2-24P 85 0 66 31 0.319587628865979 TRUE NA +ENSG00000137501.17 . BCM GRCh38.p13 chr11 85725125 85725125 + T T A Intron SNP NA NA NA NA intronic ENSG00000137501.17 . . . 11q14.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYTL2 172 0 158 43 0.213930348258706 TRUE NA +ENSG00000187109.14 . BCM GRCh38.p13 chr12 76049522 76049522 + A A T Intron SNP NA NA NA NA intronic ENSG00000187109.14 . . . 12q21.2 C3L-01861 . . . . . . . . . 6.17 D T P D . D . T N 0.186 T T D 0.141 0.354 0.452 . . T T T T T 2.227 21.100 0.987 D D 0.599 5.917 0.618 6.454 1.000 0.707 0.725 0.702 0.711 . 5.540 5.540 1.448 1.307 0.751 1.000 1.000 1.000 926 . . . . NAP1L1 213 0 174 37 0.175355450236967 TRUE TRUE +ENSG00000170004.17 . BCM GRCh38.p13 chr17 7910374 7910374 + T T G Intron SNP NA NA NA NA intronic ENSG00000170004.17 . . . 17p13.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD3 241 0 180 44 0.196428571428571 TRUE NA +ENSG00000199961.1 . BCM GRCh38.p13 chr17 76561186 76561186 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199961.1 . . . 17q25.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD1B 150 1 95 39 0.291044776119403 TRUE NA +ENSG00000100003.18 . BCM GRCh38.p13 chr22 30398741 30398741 + C C A Intron SNP NA NA NA NA intronic ENSG00000100003.18 . . . 22q12.2 C3L-01861 . . . . . . . . . 0.12 T . . . . N . . N . T T . 0.013 0.252 0.259 . . T T T T T 0.684 8.310 0.778 N N -0.632 0.931 -0.787 0.776 1.000 0.765 0.628 0.596 0.735 . 3.620 1.380 0.047 0.921 0.549 0.000 0.906 0.061 282 . . . . SEC14L2 182 0 118 25 0.174825174825175 TRUE TRUE +ENSG00000115738.10 . BCM GRCh38.p13 chr2 8682189 8682190 + GT GT CC Unknown MNP ENST00000396290.2 exon1 c.24_25delinsCC p.R8_S9delinsSP exonic ENSG00000115738.10 . nonframeshift substitution ENSG00000115738.10:ENST00000396290.2:exon1:c.24_25delinsCC:p.R8_S9delinsSP 2p25.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID2 155 1 104 25 0.193798449612403 NA TRUE +ENSG00000223774.5 . BCM GRCh38.p13 chr1 201898353 201898354 + GG GG CA Unknown MNP NA NA NA NA ncRNA_intronic ENSG00000223774.5 . . . 1q32.1 C3L-01861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL513217.1 182 29 157 30 0.160427807486631 TRUE NA +ENSG00000142920.17 . BCM GRCh38.p13 chr1 33117927 33117927 + A A T Missense_Mutation SNP ENST00000294517.11 exon11 c.A1055T p.Y352F exonic ENSG00000142920.17 . nonsynonymous SNV ENSG00000142920.17:ENST00000294517.11:exon11:c.A1055T:p.Y352F 1p35.1 C3L-01882 . . . . . . . . . 2.19 T T B B N D . T N 0.221 T T T 0.108 0.520 0.030 0.130 T T T T T T 0.873 10.150 0.631 D N -0.397 1.390 -0.256 1.658 1.000 0.554 0.588 0.590 0.542 . 4.920 4.920 1.458 0.299 -0.093 1.000 0.983 0.259 466 Orn/DAP/Arg_decarboxylase_2,_C-terminal . . . AZIN2 180 0 167 37 0.181372549019608 TRUE TRUE +ENSG00000143450.17 . BCM GRCh38.p13 chr1 151767194 151767194 + C C T Missense_Mutation SNP ENST00000400999.6 exon2 c.C199T p.L67F exonic ENSG00000143450.17 . nonsynonymous SNV ENSG00000143450.17:ENST00000400999.6:exon2:c.C199T:p.L67F 1q21.3 C3L-01882 . . . . . . . . . 7.15 . D . . D D . T . 0.599 T T T 0.130 . 0.375 0.635 T T T T D D 3.648 25.200 0.999 D D 0.698 7.096 0.702 7.793 1.000 0.615 0.588 0.602 0.655 . 5.650 5.650 3.966 1.026 0.599 0.996 0.998 0.988 296 . . . . OAZ3 142 0 150 26 0.147727272727273 TRUE TRUE +ENSG00000182898.4 . BCM GRCh38.p13 chr1 152086522 152086522 + A A C Missense_Mutation SNP ENST00000368806.2 exon3 c.T1160G p.M387R exonic ENSG00000182898.4 . nonsynonymous SNV ENSG00000182898.4:ENST00000368806.2:exon3:c.T1160G:p.M387R 1q21.3 C3L-01882 . . . . . . . . . 0.20 T T P B N N N T N 0.189 T T T 0.048 0.191 0.030 0.028 T T T T T T 1.124 13.000 0.344 N N -0.960 0.449 -0.980 0.514 0.000 0.598 0.563 0.574 0.639 . 5.220 2.900 1.689 -0.532 -0.055 0.003 0.000 0.001 469 . . . . TCHHL1 382 0 279 43 0.133540372670807 TRUE TRUE +ENSG00000115568.15 . BCM GRCh38.p13 chr2 218644922 218644922 + C C A Missense_Mutation SNP ENST00000411696.6 exon7 c.G1594T p.A532S exonic ENSG00000115568.15 . nonsynonymous SNV ENSG00000115568.15:ENST00000411696.6:exon7:c.G1594T:p.A532S 2q35 C3L-01882 . . . . . . . . . 4.20 T T D D N N N T N 0.473 T T T 0.159 0.359 0.382 0.438 T T T T D T 3.026 23.500 0.997 D N 0.557 5.512 0.614 6.409 1.000 0.722 0.702 0.723 0.735 . 5.950 5.950 3.339 1.026 0.599 1.000 1.000 0.998 917 Zinc_finger_C2H2-type . . . ZNF142 292 0 251 39 0.13448275862069 TRUE TRUE +ENSG00000153820.13 . BCM GRCh38.p13 chr2 228017793 228017793 + C C A Missense_Mutation SNP ENST00000392056.8 exon7 c.G3061T p.V1021F exonic ENSG00000153820.13 . nonsynonymous SNV ENSG00000153820.13:ENST00000392056.8:exon7:c.G3061T:p.V1021F 2q36.3 C3L-01882 . . . . . . . . . 15.20 D D D D D D M T D 0.766 T T D 0.281 0.215 0.358 0.364 T T D D D D 3.136 23.700 0.996 D D 0.744 7.776 0.783 9.628 1.000 0.487 0.574 0.547 0.564 . 6.080 6.080 7.218 0.966 0.530 1.000 0.979 0.754 870 . . . . SPHKAP 213 1 190 15 0.0731707317073171 TRUE TRUE +ENSG00000206561.13 . BCM GRCh38.p13 chr3 15458296 15458296 + T T C Missense_Mutation SNP ENST00000383788.10 exon13 c.A844G p.R282G exonic ENSG00000206561.13 . nonsynonymous SNV ENSG00000206561.13:ENST00000383788.10:exon13:c.A844G:p.R282G 3p25.1 C3L-01882 . . . . . . . . . 16.20 D T D D D D M D D 0.546 D D D 0.683 0.305 0.939 0.127 T D D D D T 2.926 23.300 0.994 D N 0.266 3.611 0.161 2.998 0.961 0.554 0.588 0.602 0.564 . 5.810 0.222 0.292 1.130 0.665 0.926 0.998 0.998 518 . . . . COLQ 389 0 308 46 0.129943502824859 TRUE NA +ENSG00000169064.12 . BCM GRCh38.p13 chr3 167305668 167305669 + TC TC - Frame_Shift_Del DEL ENST00000392766.6 exon17 c.1699_1700del p.E567Ifs*18 exonic ENSG00000169064.12 . frameshift deletion ENSG00000169064.12:ENST00000392766.6:exon17:c.1699_1700del:p.E567Ifs*18 3q26.1 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBBX 80 0 67 10 0.12987012987013 TRUE TRUE +ENSG00000188993.3 . BCM GRCh38.p13 chr4 52017475 52017475 + A A C Missense_Mutation SNP ENST00000343457.3 exon1 c.T139G p.S47A exonic ENSG00000188993.3 . nonsynonymous SNV ENSG00000188993.3:ENST00000343457.3:exon1:c.T139G:p.S47A 4q12 C3L-01882 . . . . . . . . . 8.20 D D D D D N M T N 0.448 T T T 0.251 0.601 0.346 0.082 T T T T D T 2.989 23.400 0.993 D N 0.174 3.192 0.072 2.622 0.989 0.487 0.574 0.547 0.613 . 5.010 3.840 5.173 0.325 -0.043 0.998 0.419 0.391 . . . . . LRRC66 270 0 299 39 0.115384615384615 TRUE TRUE +ENSG00000196159.12 . BCM GRCh38.p13 chr4 125415720 125415720 + A A - Frame_Shift_Del DEL ENST00000674496.1 exon5 c.6757delA p.N2253Mfs*14 exonic ENSG00000196159.12 . frameshift deletion ENSG00000196159.12:ENST00000674496.1:exon5:c.6757delA:p.N2253Mfs*14 4q28.1 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT4 197 0 184 23 0.111111111111111 TRUE TRUE +ENSG00000112855.17 . BCM GRCh38.p13 chr5 140697969 140697969 + C C A Missense_Mutation SNP ENST00000230771.9 exon12 c.C1352A p.T451N exonic ENSG00000112855.17 . nonsynonymous SNV ENSG00000112855.17:ENST00000230771.9:exon12:c.C1352A:p.T451N 5q31.3 C3L-01882 . . . . . . . . . 4.20 T T B B D D N D N 0.212 T T T 0.210 0.426 0.767 0.172 T T T T T T 0.879 10.210 0.766 D N -0.673 0.859 -0.448 1.288 1.000 0.707 0.725 0.725 0.714 . 5.260 3.420 0.762 1.026 0.599 0.464 0.994 0.994 128 Anticodon-binding;Histidyl-anticodon-binding . . . HARS2 507 0 489 76 0.134513274336283 TRUE TRUE +ENSG00000187658.7 . BCM GRCh38.p13 chr5 157679888 157679888 + A A C Missense_Mutation SNP ENST00000409999.4 exon3 c.A369C p.E123D exonic ENSG00000187658.7 . nonsynonymous SNV ENSG00000187658.7:ENST00000409999.4:exon3:c.A369C:p.E123D 5q33.3 C3L-01882 . . . . . . . . . 0.18 T T B B . N N T N 0.144 T T T 0.038 0.133 0.014 . . T T T T T 0.958 11.090 0.902 N N -1.169 0.249 -1.085 0.391 0.000 0.487 0.547 0.547 0.564 . 1.760 -1.400 -0.375 -0.274 0.399 0.912 0.495 0.959 848 . . . . C5orf52 189 0 216 28 0.114754098360656 TRUE TRUE +ENSG00000095951.17 . BCM GRCh38.p13 chr6 12120978 12120978 + C C G Missense_Mutation SNP ENST00000379388.7 exon4 c.C1183G p.L395V exonic ENSG00000095951.17 . nonsynonymous SNV ENSG00000095951.17:ENST00000379388.7:exon4:c.C1183G:p.L395V 6p24.1 C3L-01882 . . . . . . . . . 3.16 D T . . N N . T N 0.468 T T T 0.111 0.281 0.230 0.471 T . T T D T 2.407 22.100 0.997 D N 0.499 5.025 0.473 4.919 0.998 0.707 0.577 0.609 0.714 . 5.200 4.130 0.495 1.026 0.599 0.998 1.000 0.999 496 . . . . HIVEP1 210 0 191 21 0.0990566037735849 TRUE TRUE +ENSG00000230062.5 . BCM GRCh38.p13 chr6 46753863 46753863 + C C T Missense_Mutation SNP ENST00000565422.1 exon4 c.C470T p.A157V exonic ENSG00000230062.5 . nonsynonymous SNV ENSG00000230062.5:ENST00000565422.1:exon4:c.C470T:p.A157V 6p12.3 C3L-01882 . . . . . . . . . 4.14 T T . . . D N T N 0.258 . . D . . 0.380 . T T T T . T 2.841 23.100 0.999 D D . . . . 1.000 0.487 0.574 0.547 0.542 . 5.620 5.620 7.159 1.026 0.599 1.000 0.087 0.183 719 Ankyrin_repeat-containing_domain . . . ANKRD66 286 0 218 32 0.128 TRUE TRUE +ENSG00000196569.12 . BCM GRCh38.p13 chr6 129402453 129402453 + G G A Missense_Mutation SNP ENST00000421865.2 exon39 c.G5692A p.A1898T exonic ENSG00000196569.12 . nonsynonymous SNV ENSG00000196569.12:ENST00000421865.2:exon39:c.G5692A:p.A1898T 6q22.33 C3L-01882 . . . . . . . . . 6.19 T . P B D D M T N 0.427 T T T 0.083 0.361 0.535 0.165 T T T T D D 2.684 22.800 0.997 D N 0.413 4.427 0.475 4.937 1.000 0.516 0.563 0.598 0.586 . 5.750 5.750 4.033 1.176 0.676 0.998 0.971 0.941 884 . . . . LAMA2 306 0 279 39 0.122641509433962 TRUE TRUE +ENSG00000186340.15 . BCM GRCh38.p13 chr6 169237274 169237275 + AT AT - Frame_Shift_Del DEL ENST00000366787.7 exon10 c.1372_1373del p.I458Hfs*67 exonic ENSG00000186340.15 . frameshift deletion ENSG00000186340.15:ENST00000366787.7:exon10:c.1372_1373del:p.I458Hfs*67 6q27 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THBS2 269 0 224 37 0.14176245210728 TRUE TRUE +ENSG00000106608.16 . BCM GRCh38.p13 chr7 43876772 43876772 + T T - Frame_Shift_Del DEL ENST00000453200.5 exon6 c.2691delA p.A898Pfs*5 exonic ENSG00000106608.16 . frameshift deletion ENSG00000106608.16:ENST00000453200.5:exon6:c.2691delA:p.A898Pfs*5 7p13 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . URGCP 334 0 264 47 0.15112540192926 TRUE TRUE +ENSG00000078487.17 . BCM GRCh38.p13 chr7 100419630 100419630 + C C G Missense_Mutation SNP ENST00000398027.6 exon4 c.G282C p.K94N exonic ENSG00000078487.17 . nonsynonymous SNV ENSG00000078487.17:ENST00000398027.6:exon4:c.G282C:p.K94N 7q22.1 C3L-01882 . . . . . . . . . 10.20 D D D D N D M T N 0.388 T T D 0.171 0.119 0.321 0.700 T T T T D T 6.177 35 0.999 D D 0.574 5.665 0.538 5.522 1.000 0.554 0.732 0.618 0.621 . 4.810 4.810 3.288 1.026 0.599 1.000 0.925 0.967 453 . . . . ZCWPW1 119 0 81 18 0.181818181818182 TRUE TRUE +ENSG00000213214.5 . BCM GRCh38.p13 chr7 144187032 144187032 + G G A Missense_Mutation SNP ENST00000378115.3 exon2 c.C1352T p.P451L exonic ENSG00000213214.5 . nonsynonymous SNV ENSG00000213214.5:ENST00000378115.3:exon2:c.C1352T:p.P451L 7q35 C3L-01882 . . . . . . . . . 5.17 D D D P . N L . D 0.392 T T T 0.055 0.606 0.293 2.346 . T T T D T 2.414 22.100 0.991 N N -0.265 1.702 -0.470 1.251 0.000 0.693 0.670 0.659 0.621 . 2.360 2.360 2.402 1.021 0.318 0.074 0.002 0.025 932 Rho_guanine_nucleotide_exchange_factor_5/35,_N-terminal . . ID=COSV65312384;OCCURENCE=1(skin) ARHGEF35 224 0 195 32 0.140969162995595 NA TRUE +ENSG00000120913.23 . BCM GRCh38.p13 chr8 22580659 22580659 + G G A Missense_Mutation SNP ENST00000397760.8 exon2 c.G55A p.G19R exonic ENSG00000120913.23 . nonsynonymous SNV ENSG00000120913.23:ENST00000397760.8:exon2:c.G55A:p.G19R 8p21.3 C3L-01882 . . . . . . . . . 15.20 D D D D D D H T D 0.857 T T D 0.479 0.899 0.672 0.475 T T D D D D 4.438 31 0.998 D D 0.428 4.523 0.298 3.707 1.000 0.635 0.484 0.654 0.605 . 5.300 4.430 5.989 1.176 0.676 1.000 0.979 0.988 855 PDZ_domain . . . PDLIM2 203 0 166 27 0.139896373056995 TRUE TRUE +ENSG00000147852.16 . BCM GRCh38.p13 chr9 2622238 2622238 + T T C Missense_Mutation SNP ENST00000382100.8 exon1 c.T49C p.W17R exonic ENSG00000147852.16 . nonsynonymous SNV ENSG00000147852.16:ENST00000382100.8:exon1:c.T49C:p.W17R 9p24.2 C3L-01882 . . . . . . . . . 7.20 T T P P N N N D N 0.400 T D D 0.536 0.552 0.909 0.271 D T D T D T 3.770 25.700 0.987 D N -0.117 2.122 0.011 2.396 1.000 0.726 0.552 0.594 0.555 . 4.210 4.210 1.544 0.964 0.512 1.000 1.000 0.991 923 . . . . VLDLR 85 0 113 13 0.103174603174603 TRUE TRUE +ENSG00000198105.15 . BCM GRCh38.p13 chr10 37831883 37831883 + G G C Missense_Mutation SNP ENST00000395867.7 exon6 c.C1472G p.P491R exonic ENSG00000198105.15 . nonsynonymous SNV ENSG00000198105.15:ENST00000395867.7:exon6:c.C1472G:p.P491R 10p11.21 C3L-01882 . . . . . . . . . 12.20 D D D D D D L T D 0.696 T T T 0.436 0.676 0.600 0.548 D T D T D T 3.748 25.600 0.998 D D 0.737 7.676 0.660 7.066 1.000 0.563 0.654 0.574 0.636 . 4.520 3.600 5.628 1.176 0.674 1.000 0.970 0.936 835 Zinc_finger_C2H2-type . . . ZNF248 214 0 206 37 0.152263374485597 TRUE TRUE +ENSG00000149516.14 . BCM GRCh38.p13 chr11 60069635 60069635 + T T A Missense_Mutation SNP ENST00000278865.8 exon6 c.T575A p.I192K exonic ENSG00000149516.14 . nonsynonymous SNV ENSG00000149516.14:ENST00000278865.8:exon6:c.T575A:p.I192K 11q12.1 C3L-01882 . . . . . . . . . 1.20 D T B B N N L T N 0.404 T T T 0.062 0.399 0.076 0.018 T T T T T T 0.654 8.030 0.658 N N -1.295 0.167 -1.326 0.193 0.005 0.487 0.574 0.574 0.530 . 4.750 -0.531 0.002 -0.304 -0.962 0.000 0.000 0.000 824 . . . . MS4A3 193 0 229 38 0.142322097378277 TRUE NA +ENSG00000054965.10 . BCM GRCh38.p13 chr11 73409553 73409553 + C C A Missense_Mutation SNP ENST00000064778.8 exon7 c.G556T p.A186S exonic ENSG00000054965.10 . nonsynonymous SNV ENSG00000054965.10:ENST00000064778.8:exon7:c.G556T:p.A186S 11q13.4 C3L-01882 . . . . . . . . . 6.19 D T P B D D N . N 0.248 T T T 0.153 0.393 0.134 0.507 T T T T D D 1.670 16.820 0.994 D N 0.136 3.030 0.217 3.268 1.000 0.707 0.702 0.725 0.714 . 5.590 5.590 2.053 1.026 0.599 0.973 0.631 0.080 389 . . . . FAM168A 165 0 146 30 0.170454545454545 TRUE TRUE +ENSG00000160613.13 . BCM GRCh38.p13 chr11 117225989 117225989 + T T C Missense_Mutation SNP ENST00000320934.8 exon6 c.A802G p.S268G exonic ENSG00000160613.13 . nonsynonymous SNV ENSG00000160613.13:ENST00000320934.8:exon6:c.A802G:p.S268G 11q23.3 C3L-01882 . . . . . . . . . 15.20 T D D D D D L D N 0.628 D D D 0.745 0.567 0.883 1.370 T T D D D D 3.946 26.600 0.998 D D 0.726 7.498 0.728 8.321 1.000 0.707 0.702 0.644 0.714 . 5.830 5.830 6.167 1.134 0.661 1.000 1.000 0.999 574 Peptidase_S8/S53_domain;Kexin/furin_catalytic_domain . . . PCSK7 235 0 219 22 0.0912863070539419 TRUE TRUE +ENSG00000126838.10 . BCM GRCh38.p13 chr12 9161102 9161102 + C C G Missense_Mutation SNP ENST00000261336.7 exon23 c.G2803C p.E935Q exonic ENSG00000126838.10 . nonsynonymous SNV ENSG00000126838.10:ENST00000261336.7:exon23:c.G2803C:p.E935Q 12p13.31 C3L-01882 . . . . . . . . . 3.20 T T P B U N M T D 0.091 T T T 0.076 0.331 0.297 0.449 T T T T D T 0.739 8.812 0.666 N N -0.161 1.988 -0.365 1.437 0.940 0.516 0.590 0.547 0.586 . 3.800 2.900 0.359 0.710 0.530 0.024 0.015 0.007 657 . . . ID=COSV54358383;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(urinary_tract) PZP 150 0 166 19 0.102702702702703 TRUE TRUE +ENSG00000161638.11 . BCM GRCh38.p13 chr12 54400859 54400859 + G G - Frame_Shift_Del DEL ENST00000293379.9 exon25 c.2630delC p.P877Qfs*33 exonic ENSG00000161638.11 . frameshift deletion ENSG00000161638.11:ENST00000293379.9:exon25:c.2630delC:p.P877Qfs*33 12q13.13 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA5 146 0 111 11 0.0901639344262295 TRUE NA +ENSG00000079616.13 . BCM GRCh38.p13 chr16 29804932 29804932 + G G A Missense_Mutation SNP ENST00000160827.9 exon12 c.G1796A p.G599D exonic ENSG00000079616.13 . nonsynonymous SNV ENSG00000079616.13:ENST00000160827.9:exon12:c.G1796A:p.G599D 16p11.2 C3L-01882 . . . . . . . . . 16.19 D D D D . D L T D 0.755 D D D 0.547 0.471 0.897 0.768 T D D D D D 4.038 27.300 0.998 D D 0.611 6.038 0.588 6.079 1.000 0.628 0.672 0.522 0.562 . 5.500 5.500 7.041 1.176 0.676 1.000 0.993 0.900 289 . . . ID=COSV99360914;OCCURENCE=1(large_intestine) KIF22 135 1 111 22 0.165413533834586 TRUE NA +ENSG00000183914.14 . BCM GRCh38.p13 chr17 7760928 7760928 + G G T Missense_Mutation SNP ENST00000572933.5 exon18 c.G2974T p.A992S exonic ENSG00000183914.14 . nonsynonymous SNV ENSG00000183914.14:ENST00000572933.5:exon18:c.G2974T:p.A992S 17p13.1 C3L-01882 . . . . . . . . . 4.19 T . B B N D L T N 0.459 T T T 0.137 0.622 0.480 0.275 T T T T T D 1.830 17.950 0.663 D D -0.164 1.980 0.006 2.380 0.003 0.516 0.574 0.602 0.586 . 5.550 5.550 5.074 1.176 0.676 1.000 0.938 0.537 216 . . . . DNAH2 93 0 75 13 0.147727272727273 TRUE TRUE +ENSG00000160551.11 . BCM GRCh38.p13 chr17 29542590 29542590 + T T A Missense_Mutation SNP ENST00000261716.7 exon20 c.T2574A p.N858K exonic ENSG00000160551.11 . nonsynonymous SNV ENSG00000160551.11:ENST00000261716.7:exon20:c.T2574A:p.N858K 17q11.2 C3L-01882 . . . . . . . . . 6.20 T T P B D D N T N 0.471 T T D 0.107 0.168 0.532 1.074 D T T T T D 1.936 18.770 0.590 D N -0.189 1.908 -0.079 2.108 0.019 0.707 0.654 0.702 0.714 . 5.570 3.360 1.874 1.138 0.665 1.000 1.000 0.997 83 . . . . TAOK1 78 0 65 12 0.155844155844156 TRUE TRUE +ENSG00000091583.11 . BCM GRCh38.p13 chr17 66214645 66214645 + A A G Missense_Mutation SNP ENST00000205948.11 exon7 c.T790C p.C264R exonic ENSG00000091583.11 . nonsynonymous SNV ENSG00000091583.11:ENST00000205948.11:exon7:c.T790C:p.C264R 17q24.2 C3L-01882 . . . . . . . . . 17.20 D D D D D D M D D 0.869 D D D 0.935 0.870 0.990 0.902 T T D D D T 4.264 29.300 0.997 D D 0.756 7.979 0.708 7.912 0.998 0.487 0.574 0.547 0.530 . 5.230 5.230 6.677 1.288 0.756 1.000 0.990 0.996 851 Beta-2-glycoprotein-1_fifth_domain . . . APOH 176 0 171 35 0.169902912621359 TRUE NA +ENSG00000124299.15 . BCM GRCh38.p13 chr19 33401846 33401846 + T T C Missense_Mutation SNP ENST00000244137.12 exon12 c.A842G p.Y281C exonic ENSG00000124299.15 . nonsynonymous SNV ENSG00000124299.15:ENST00000244137.12:exon12:c.A842G:p.Y281C 19q13.11 C3L-01882 8.731e-06 0 0 0 0 0 0 6.312e-05 rs766027294 17.20 D T D D D D M T D 0.949 D D D 0.893 0.621 0.936 0.560 T D D D D D 4.392 31 0.998 D D 0.705 7.190 0.654 6.978 1.000 0.706 0.710 0.723 0.613 . 5.380 5.380 7.515 1.138 0.665 1.000 0.968 0.891 611 Peptidase_M24 . . . PEPD 539 0 507 44 0.0798548094373866 TRUE NA +ENSG00000170848.16 . BCM GRCh38.p13 chr19 42907005 42907005 + T T G Missense_Mutation SNP ENST00000292125.6 exon5 c.A1157C p.N386T exonic ENSG00000170848.16 . nonsynonymous SNV ENSG00000170848.16:ENST00000292125.6:exon5:c.A1157C:p.N386T 19q13.31 C3L-01882 . . . . . . . . . 2.18 D T B B . N M T N 0.301 T T T 0.015 0.687 0.285 . . T T T T T -0.209 0.489 0.583 N N -1.196 0.230 -1.286 0.218 0.000 0.487 0.574 0.574 0.564 . 1.540 0.365 -0.643 -0.054 0.455 0.000 0.000 0.001 684 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . PSG6 361 0 336 53 0.136246786632391 NA TRUE +ENSG00000167615.16 . BCM GRCh38.p13 chr19 54458421 54458421 + T T - Frame_Shift_Del DEL ENST00000326764.9 exon15 c.2140delT p.F715Sfs*30 exonic ENSG00000167615.16 . frameshift deletion ENSG00000167615.16:ENST00000326764.9:exon15:c.2140delT:p.F715Sfs*30 19q13.42 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LENG8 296 0 244 21 0.0792452830188679 TRUE TRUE +ENSG00000130699.18 . BCM GRCh38.p13 chr20 62003178 62003178 + G G T Missense_Mutation SNP ENST00000252996.8 exon9 c.C2468A p.P823H exonic ENSG00000130699.18 . nonsynonymous SNV ENSG00000130699.18:ENST00000252996.8:exon9:c.C2468A:p.P823H 20q13.33 C3L-01882 . . . . . . . . . 7.20 T D D P N D M T N 0.505 T T T 0.137 0.313 0.336 1.794 T T T T D T 4.162 28.300 0.995 D D 0.521 5.202 0.511 5.260 1.000 0.707 0.654 0.725 0.714 . 4.810 3.840 6.945 1.155 0.676 1.000 0.997 0.998 940 . . . . TAF4 226 0 189 21 0.1 TRUE TRUE +ENSG00000132334.16 . BCM GRCh38.p13 chr10 128049668 128049668 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000132334.16 ENST00000254667.7:exon6:c.420+2T>C . . 10q26.2 C3L-01882 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.115 33 0.984 D . 0.890 10.797 0.663 7.119 1.000 0.116 0.080 0.060 0.196 0.834 3.530 3.530 7.546 1.138 0.665 1.000 0.826 0.410 966 . . . . PTPRE 119 0 106 21 0.165354330708661 TRUE TRUE +ENSG00000125107.18 . BCM GRCh38.p13 chr16 58551588 58551588 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000125107.18 ENST00000317147.10:exon23:c.3201+1G>A . . 16q21 C3L-01882 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.336 34 0.994 D . 1.184 22.402 1.043 21.773 1.000 0.156 0.156 0.123 0.118 0.990 5.520 5.520 7.905 1.026 0.599 1.000 1.000 0.988 266 . . . . CNOT1 132 0 127 32 0.20125786163522 TRUE TRUE +ENSG00000177034.17 . BCM GRCh38.p13 chr5 79989179 79989179 + G G A Silent SNP ENST00000512528.3 exon4 c.C294T p.L98L exonic ENSG00000177034.17 . synonymous SNV ENSG00000177034.17:ENST00000512528.3:exon4:c.C294T:p.L98L 5q14.1 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTX3 162 0 175 36 0.170616113744076 TRUE TRUE +ENSG00000096433.11 . BCM GRCh38.p13 chr6 33678704 33678704 + C C T Silent SNP ENST00000605930.3 exon30 c.C3837T p.S1279S exonic ENSG00000096433.11 . synonymous SNV ENSG00000096433.11:ENST00000605930.3:exon30:c.C3837T:p.S1279S 6p21.31 C3L-01882 0.0008 0 0 0.0002 0 1.689e-05 0 0.0055 rs529663156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65409843;OCCURENCE=1(stomach) ITPR3 270 0 260 37 0.124579124579125 TRUE TRUE +ENSG00000104756.16 . BCM GRCh38.p13 chr8 25446179 25446179 + G G T Silent SNP ENST00000221200.9 exon2 c.C120A p.T40T exonic ENSG00000104756.16 . synonymous SNV ENSG00000104756.16:ENST00000221200.9:exon2:c.C120A:p.T40T 8p21.2 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD9 119 0 123 18 0.127659574468085 TRUE TRUE +ENSG00000011454.17 . BCM GRCh38.p13 chr9 123010425 123010425 + A A G Silent SNP ENST00000373647.9 exon11 c.A1446G p.E482E exonic ENSG00000011454.17 . synonymous SNV ENSG00000011454.17:ENST00000373647.9:exon11:c.A1446G:p.E482E 9q33.2 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RABGAP1 200 1 184 36 0.163636363636364 TRUE TRUE +ENSG00000166535.20 . BCM GRCh38.p13 chr12 8851940 8851940 + T T G Silent SNP ENST00000299698.12 exon19 c.T2391G p.P797P exonic ENSG00000166535.20 . synonymous SNV ENSG00000166535.20:ENST00000299698.12:exon19:c.T2391G:p.P797P 12p13.31 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . A2ML1 381 0 344 42 0.10880829015544 TRUE TRUE +ENSG00000167971.16 . BCM GRCh38.p13 chr16 2179984 2179984 + G G A Silent SNP ENST00000343516.8 exon18 c.C3384T p.I1128I exonic ENSG00000167971.16 . synonymous SNV ENSG00000167971.16:ENST00000343516.8:exon18:c.C3384T:p.I1128I 16p13.3 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASKIN1 202 0 181 25 0.121359223300971 TRUE TRUE +ENSG00000205832.7 . BCM GRCh38.p13 chr16 4599339 4599339 + T T C Silent SNP ENST00000444310.4 exon15 c.T3183C p.S1061S exonic ENSG00000205832.7 . synonymous SNV ENSG00000205832.7:ENST00000444310.4:exon15:c.T3183C:p.S1061S 16p13.3 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C16orf96 217 0 195 24 0.10958904109589 TRUE TRUE +ENSG00000130475.14 . BCM GRCh38.p13 chr19 17776134 17776134 + C C A Silent SNP ENST00000596536.5 exon16 c.C1155A p.G385G exonic ENSG00000130475.14 . synonymous SNV ENSG00000130475.14:ENST00000596536.5:exon16:c.C1155A:p.G385G 19p13.11 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53183542;OCCURENCE=1(autonomic_ganglia) FCHO1 184 0 168 22 0.115789473684211 TRUE TRUE +ENSG00000117054.14 . BCM GRCh38.p13 chr1 75732842 75732842 + T T C Intron SNP NA NA NA NA intronic ENSG00000117054.14 . . . 1p31.1 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACADM 376 0 365 56 0.133016627078385 TRUE NA +ENSG00000135838.13 . BCM GRCh38.p13 chr1 182809192 182809192 + C C G Intron SNP NA NA NA NA intronic ENSG00000135838.13 . . . 1q25.3 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPL 82 1 73 18 0.197802197802198 TRUE NA +ENSG00000255182.2 . BCM GRCh38.p13 chr8 144498104 144498104 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255182.2 . . . 8q24.3 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC084125.2 85 0 75 11 0.127906976744186 TRUE NA +ENSG00000107897.19 . BCM GRCh38.p13 chr10 27197367 27197367 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000107897.19 ENST00000375888.5:c.*63G>T . . 10p12.1 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACBD5 200 0 163 16 0.0893854748603352 TRUE NA +ENSG00000227695.6 . BCM GRCh38.p13 chr10 99930255 99930255 + T T C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000227695.6 . . . 10q24.2 C3L-01882 . . . . . . . . . 0.3 . . . . . N . . . . . . . . . . . . . . . . T 0.139 2.466 0.522 N . . . . . 1.000 0.045 0.078 0.103 0.120 0.074 5.480 0.014 0.281 -0.175 -0.778 0.001 0.000 0.000 409 . . . . DNMBP-AS1 159 0 128 29 0.184713375796178 TRUE TRUE +ENSG00000254756.1 . BCM GRCh38.p13 chr11 66338607 66338607 + A A C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000254756.1 . . . 11q13.2 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP001107.6 175 0 197 19 0.087962962962963 TRUE NA +ENSG00000196091.15 . BCM GRCh38.p13 chr12 101627798 101627798 + G G - Intron SNP NA NA NA NA intronic ENSG00000196091.15 . . . 12q23.2 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYBPC1 343 0 318 50 0.135869565217391 TRUE NA +ENSG00000035664.11 . BCM GRCh38.p13 chr15 63922962 63922962 + C C T Intron SNP NA NA NA NA intronic ENSG00000035664.11 . . . 15q22.31 C3L-01882 . . . . . . . . rs925821988 4.11 D D . . . D . T N 0.170 . . D . . 0.693 . . . T T . T 0.639 7.883 0.998 N N . . . . 1.000 0.487 0.546 0.547 0.564 . 5.260 5.260 1.413 1.015 0.599 0.001 0.022 0.039 117 . . . . DAPK2 307 0 281 39 0.121875 TRUE NA +ENSG00000180035.13 . BCM GRCh38.p13 chr16 30395241 30395241 + A A G 5'Flank SNP NA NA NA NA upstream ENSG00000180035.13 dist=178 . . 16p11.2 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF48 153 0 119 15 0.111940298507463 TRUE NA +ENSG00000154803.13 . BCM GRCh38.p13 chr17 17226069 17226069 + G G A Intron SNP NA NA NA NA intronic ENSG00000154803.13;ENSG00000264187.1 . . . 17p11.2 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLCN 266 0 240 49 0.169550173010381 TRUE NA +ENSG00000125971.16 . BCM GRCh38.p13 chr20 34516828 34516828 + A A G Intron SNP NA NA NA NA intronic ENSG00000125971.16 . . . 20q11.22 C3L-01882 0.0093 0 0 0 0 0 0 0.0186 rs561125437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNLRB1 55 0 42 8 0.16 TRUE NA +ENSG00000124164.16 . BCM GRCh38.p13 chr20 58448454 58448454 + A A G 3'UTR SNP NA NA NA NA UTR3 ENSG00000124164.16 ENST00000475243.6:c.*4219A>G . . 20q13.32 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAPB 474 0 456 45 0.0898203592814371 TRUE NA +ENSG00000004961.15 . BCM GRCh38.p13 chrX 11120904 11120904 + - NA A Intron SNP NA NA NA NA intronic ENSG00000004961.15 . . . Xp22.2 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HCCS NA NA NA NA NA NA NA +ENSG00000213203.3 . BCM GRCh38.p13 chr7 150720329 150720330 + GC GC CT Unknown MNP ENST00000307194.6 exon3 c.325_326delinsCT p.A109L exonic ENSG00000213203.3;ENSG00000281887.3 . nonframeshift substitution ENSG00000213203.3:ENST00000307194.6:exon3:c.325_326delinsCT:p.A109L,ENSG00000281887.3:ENST00000611999.4:exon3:c.325_326delinsCT:p.A109L 7q36.1 C3L-01882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GIMAP1 88 0 82 9 0.0989010989010989 TRUE TRUE +ENSG00000158008.10 . BCM GRCh38.p13 chr1 26030559 26030559 + C C - Frame_Shift_Del DEL ENST00000374280.4 exon4 c.1065delC p.S356Pfs*67 exonic ENSG00000158008.10 . frameshift deletion ENSG00000158008.10:ENST00000374280.4:exon4:c.1065delC:p.S356Pfs*67 1p36.11 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXTL1 76 0 67 26 0.279569892473118 TRUE TRUE +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39381961 39381961 + T T C Missense_Mutation SNP ENST00000372915.7 exon55 c.T13672C p.W4558R exonic ENSG00000127603.29 . nonsynonymous SNV ENSG00000127603.29:ENST00000372915.7:exon55:c.T13672C:p.W4558R 1p34.3 C3L-01885 . . . . . . . . . 15.19 D D D D D D . T D 0.948 D T D 0.757 0.862 0.681 . T T D D D D 4.512 32 0.997 D D 0.840 9.607 0.832 11.146 1.000 0.707 0.654 0.725 0.617 . 5.950 5.950 8.017 1.134 0.661 1.000 1.000 0.997 691 . . . . MACF1 212 0 170 58 0.254385964912281 TRUE TRUE +ENSG00000203857.10 . BCM GRCh38.p13 chr1 119514274 119514274 + G G A Missense_Mutation SNP ENST00000369413.8 exon4 c.G751A p.G251R exonic ENSG00000203857.10 . nonsynonymous SNV ENSG00000203857.10:ENST00000369413.8:exon4:c.G751A:p.G251R 1p12 C3L-01885 . . . . . . . . . 19.20 D D D D D D H D D 0.939 D D D 0.886 . 0.952 0.225 T D D D D D 3.928 26.500 0.999 D D 0.620 6.129 0.438 4.640 0.815 0.487 0.574 0.547 0.613 . 3.260 3.260 7.439 1.076 0.373 1.000 0.914 0.385 631 3-beta_hydroxysteroid_dehydrogenase/isomerase . . . HSD3B1 424 0 366 25 0.0639386189258312 NA TRUE +ENSG00000163131.11 . BCM GRCh38.p13 chr1 150747816 150747816 + C C G Missense_Mutation SNP ENST00000368985.8 exon7 c.G857C p.G286A exonic ENSG00000163131.11 . nonsynonymous SNV ENSG00000163131.11:ENST00000368985.8:exon7:c.G857C:p.G286A 1q21.3 C3L-01885 . . . . . . . . . 19.20 D D D D D D M D D 0.863 D D D 0.917 0.956 0.941 1.567 T D D D D D 3.310 24.100 0.998 D D 1.007 14.153 0.882 12.995 1.000 0.732 0.744 0.547 0.668 . 5.400 5.400 7.874 1.022 0.596 1.000 0.952 0.903 72 Papain-like_cysteine_endopeptidase;Peptidase_C1A,_papain_C-terminal . . . CTSS 227 0 151 33 0.179347826086957 TRUE TRUE +ENSG00000168264.10 . BCM GRCh38.p13 chr1 234607415 234607415 + A A G Missense_Mutation SNP ENST00000366609.3 exon2 c.T1486C p.S496P exonic ENSG00000168264.10 . nonsynonymous SNV ENSG00000168264.10:ENST00000366609.3:exon2:c.T1486C:p.S496P 1q42.3 C3L-01885 . . . . . . . . . 13.20 D D D D D D L T D 0.734 T T D 0.299 0.228 0.627 0.524 T T D D D T 4.441 31 0.998 D D 0.744 7.788 0.745 8.688 1.000 0.733 0.522 0.672 0.622 . 5.730 5.730 6.985 1.312 0.756 1.000 1.000 1.000 911 . . . . IRF2BP2 167 1 102 34 0.25 TRUE TRUE +ENSG00000176887.7 . BCM GRCh38.p13 chr2 5693838 5693838 + G G T Missense_Mutation SNP ENST00000322002.5 exon1 c.G1117T p.A373S exonic ENSG00000176887.7 . nonsynonymous SNV ENSG00000176887.7:ENST00000322002.5:exon1:c.G1117T:p.A373S 2p25.2 C3L-01885 . . . . . . . . . 7.20 T T B B U D L D N 0.129 D D D 0.296 0.230 0.866 1.036 T T D T T T 2.115 20.200 0.956 D N -0.417 1.346 -0.216 1.748 1.000 0.726 0.563 0.594 0.639 . 4.910 4.030 2.186 0.186 0.672 1.000 0.972 0.997 979 . . . . SOX11 149 0 145 9 0.0584415584415584 TRUE TRUE +ENSG00000119185.12 . BCM GRCh38.p13 chr2 9407597 9407597 + T T G Missense_Mutation SNP ENST00000360635.7 exon7 c.A383C p.D128A exonic ENSG00000119185.12 . nonsynonymous SNV ENSG00000119185.12:ENST00000360635.7:exon7:c.A383C:p.D128A 2p25.1 C3L-01885 . . . . . . . . . 4.19 T T P B N D L . N 0.448 T T T 0.391 0.627 0.381 0.911 T T T T D T 2.800 23.000 0.989 D D -0.290 1.638 -0.156 1.896 1.000 0.672 0.702 0.644 0.711 . 5.770 3.350 5.069 0.200 0.665 1.000 0.956 0.962 779 PTB/PI_domain . . . ITGB1BP1 184 1 102 35 0.255474452554745 TRUE TRUE +ENSG00000115750.17 . BCM GRCh38.p13 chr2 9919051 9919051 + A A C Missense_Mutation SNP ENST00000263663.10 exon13 c.A1282C p.K428Q exonic ENSG00000115750.17 . nonsynonymous SNV ENSG00000115750.17:ENST00000263663.10:exon13:c.A1282C:p.K428Q 2p25.1 C3L-01885 . . . . . . . . . 11.20 D D D D N D M T N 0.598 T T D 0.185 0.289 0.777 0.520 T T T T D D 4.058 27.400 0.994 D D 0.327 3.920 0.342 3.969 1.000 0.706 0.634 0.710 0.635 . 6.030 4.860 5.891 1.312 0.756 1.000 0.994 0.988 952 . . . . TAF1B 195 0 135 23 0.145569620253165 TRUE TRUE +ENSG00000144026.12 . BCM GRCh38.p13 chr2 95149562 95149562 + C C A Missense_Mutation SNP ENST00000295208.7 exon5 c.G923T p.R308M exonic ENSG00000144026.12 . nonsynonymous SNV ENSG00000144026.12:ENST00000295208.7:exon5:c.G923T:p.R308M 2q11.1 C3L-01885 . . . . . . . . . 7.19 D D D D . N M T D 0.280 T T T 0.092 0.647 0.543 0.277 T T T T D T 3.414 24.400 0.965 N N 0.273 3.641 0.107 2.763 0.871 0.706 0.670 0.710 0.700 . 2.650 2.650 2.168 0.795 0.599 0.004 0.997 0.994 . Zinc_finger_C2H2-type . . . ZNF514 280 0 243 50 0.170648464163823 TRUE NA +ENSG00000188219.14 . BCM GRCh38.p13 chr2 131263682 131263682 + A A C Missense_Mutation SNP ENST00000356920.9 exon15 c.A2227C p.M743L exonic ENSG00000188219.14 . nonsynonymous SNV ENSG00000188219.14:ENST00000356920.9:exon15:c.A2227C:p.M743L 2q21.1 C3L-01885 . . . . . . . . . 5.19 D T B B . D N D N 0.174 T T D 0.247 0.445 0.107 . T T T T T D 0.853 9.931 0.860 N N -0.960 0.448 -0.945 0.559 0.000 0.693 0.659 0.659 0.564 . . . 4.000 -0.796 0.244 1.000 0.018 0.019 934 . . . . POTEE 187 0 137 10 0.0680272108843537 NA TRUE +ENSG00000169432.18 . BCM GRCh38.p13 chr2 166303094 166303094 + A A T Missense_Mutation SNP ENST00000642356.2 exon7 c.T897A p.F299L exonic ENSG00000169432.18 . nonsynonymous SNV ENSG00000169432.18:ENST00000642356.2:exon7:c.T897A:p.F299L 2q24.3 C3L-01885 . . . . . . . . . 3.20 T T B B N N N D N 0.071 T D D 0.329 . 0.328 0.136 T T T T T T 1.042 12.140 0.744 N N -1.274 0.179 -1.229 0.260 0.004 0.554 0.574 0.618 0.621 . 6.070 -2.030 0.047 -0.511 0.691 0.000 0.742 0.683 587 Ion_transport_domain . . . SCN9A 223 0 171 50 0.226244343891403 TRUE TRUE +ENSG00000114933.16 . BCM GRCh38.p13 chr2 206056344 206056344 + G G C Missense_Mutation SNP ENST00000403263.6 exon4 c.C818G p.P273R exonic ENSG00000114933.16 . nonsynonymous SNV ENSG00000114933.16:ENST00000403263.6:exon4:c.C818G:p.P273R 2q33.3 C3L-01885 . . . . . . . . . 9.18 D D D P D D L T N 0.253 T T D 0.242 0.320 0.082 0.183 T . T T D . 3.038 23.500 0.977 D D 0.331 3.942 0.353 4.038 1.000 0.563 0.546 0.576 0.636 . 5.510 5.510 5.060 1.176 0.618 1.000 0.657 0.095 889 . . . . INO80D 148 0 124 19 0.132867132867133 TRUE TRUE +ENSG00000144445.17 . BCM GRCh38.p13 chr2 210043966 210043966 + A A G Missense_Mutation SNP ENST00000281772.14 exon7 c.T1894C p.F632L exonic ENSG00000144445.17 . nonsynonymous SNV ENSG00000144445.17:ENST00000281772.14:exon7:c.T1894C:p.F632L 2q34 C3L-01885 . . . . . . . . . 11.19 D D D D D D M . D 0.573 T T T 0.121 0.293 0.199 0.079 T T T T D D 3.719 25.500 0.999 D N 0.310 3.831 0.363 4.104 0.141 0.615 0.634 0.602 0.528 . 5.240 5.240 2.652 1.312 0.756 1.000 1.000 1.000 732 . . . . KANSL1L 129 0 83 40 0.32520325203252 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142078 10142078 + C C A Nonsense_Mutation SNP ENST00000256474.3 exon1 c.C231A p.C77X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon1:c.C231A:p.C77X 3p25.3 C3L-01885 . . . . . . . . . 5.6 . . . . D A . . . 0.754 . . . . . . . . . D D . . 7.119 37 0.993 D N 0.723 7.453 0.593 6.141 1.000 0.442 0.522 0.522 0.562 . 5.430 4.450 0.542 0.032 0.521 1.000 0.939 0.953 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56553344;OCCURENCE=8(kidney) VHL 319 0 181 60 0.24896265560166 TRUE TRUE +ENSG00000185313.8 . BCM GRCh38.p13 chr3 38698020 38698020 + C C T Missense_Mutation SNP ENST00000449082.3 exon28 c.G5200A p.E1734K exonic ENSG00000185313.8 . nonsynonymous SNV ENSG00000185313.8:ENST00000449082.3:exon28:c.G5200A:p.E1734K 3p22.2 C3L-01885 0.0002 0 0 0 0 0.0003 0 6.056e-05 rs200645452 16.20 D T D D D D M D D 0.437 D D D 0.749 . 0.932 0.358 T T T D D D 3.836 26.000 0.999 D D 0.830 9.404 0.797 10.024 1.000 0.487 0.590 0.574 0.613 . 5.380 5.380 6.167 1.026 0.599 1.000 0.538 0.965 806 . . . ID=COSV104716719;OCCURENCE=2(skin) SCN10A 322 0 232 19 0.0756972111553785 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52576583 52576583 + G G - Nonsense_Mutation SNP ENST00000296302.11 exon22 c.3649delC p.L1217* exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon22:c.3649delC:p.L1217* 3p21.1 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 178 0 85 13 0.13265306122449 TRUE TRUE +ENSG00000174564.13 . BCM GRCh38.p13 chr3 136982170 136982170 + A A C Missense_Mutation SNP ENST00000329582.9 exon3 c.A226C p.S76R exonic ENSG00000174564.13 . nonsynonymous SNV ENSG00000174564.13:ENST00000329582.9:exon3:c.A226C:p.S76R 3q22.3 C3L-01885 . . . . . . . . . 3.20 T T B B D D L T N 0.211 T T T 0.029 0.348 0.350 0.282 T T T T T T 1.292 14.330 0.898 D N -0.619 0.954 -0.460 1.268 0.435 0.554 0.588 0.602 0.528 . 4.820 3.620 1.492 1.312 0.691 1.000 0.970 0.043 716 Fibronectin_type_III . . . IL20RB 32 0 20 8 0.285714285714286 TRUE TRUE +ENSG00000178163.8 . BCM GRCh38.p13 chr4 10445720 10445720 + A A T Missense_Mutation SNP ENST00000326756.4 exon3 c.T609A p.D203E exonic ENSG00000178163.8 . nonsynonymous SNV ENSG00000178163.8:ENST00000326756.4:exon3:c.T609A:p.D203E 4p16.1 C3L-01885 . . . . . . . . . 7.20 T D D P D D M T N 0.444 T T T 0.301 0.523 0.043 0.116 T T T T D T 2.401 22.100 0.993 D N -0.465 1.247 -0.618 1.019 0.970 0.672 0.654 0.609 0.711 . 6.160 -6.840 0.125 -0.387 -0.050 0.942 0.990 0.997 576 Zinc_finger_C2H2-type . . . ZNF518B 221 0 163 40 0.197044334975369 TRUE TRUE +ENSG00000152785.7 . BCM GRCh38.p13 chr4 81053393 81053393 + G G T Missense_Mutation SNP ENST00000282701.3 exon3 c.G1276T p.V426L exonic ENSG00000152785.7 . nonsynonymous SNV ENSG00000152785.7:ENST00000282701.3:exon3:c.G1276T:p.V426L 4q21.21 C3L-01885 . . . . . . . . . 16.20 D T D D D D N D N 0.633 D D D 0.622 0.665 0.938 0.531 T D D D D D 4.039 27.300 0.998 D D 0.748 7.848 0.814 10.563 1.000 0.487 0.492 0.574 0.564 . 5.970 5.970 9.568 1.146 0.676 1.000 0.991 0.975 844 Transforming_growth_factor-beta,_C-terminal . . ID=COSV51086313;OCCURENCE=1(oesophagus) BMP3 131 0 86 17 0.16504854368932 TRUE TRUE +ENSG00000163104.17 . BCM GRCh38.p13 chr4 94250807 94250807 + C C T Missense_Mutation SNP ENST00000354268.8 exon8 c.C863T p.S288F exonic ENSG00000163104.17 . nonsynonymous SNV ENSG00000163104.17:ENST00000354268.8:exon8:c.C863T:p.S288F 4q22.3 C3L-01885 . . . . . . . . . 7.20 D D P B D D L T N 0.299 T T T 0.153 0.350 0.517 0.901 T T T T D D 2.715 22.900 0.996 D N 0.134 3.024 0.291 3.662 1.000 0.732 0.744 0.744 0.728 . 5.530 5.530 4.302 1.008 0.599 1.000 0.998 0.996 916 Ubiquitin_system_component_Cue . . . SMARCAD1 213 0 174 31 0.151219512195122 TRUE TRUE +ENSG00000138688.15 . BCM GRCh38.p13 chr4 122347635 122347635 + T T G Missense_Mutation SNP ENST00000264501.8 exon76 c.T12985G p.F4329V exonic ENSG00000138688.15 . nonsynonymous SNV ENSG00000138688.15:ENST00000264501.8:exon76:c.T12985G:p.F4329V 4q27 C3L-01885 . . . . . . . . . 8.20 T T D D D D N T N 0.537 T T T 0.245 0.217 0.607 0.882 T T T T D D 3.349 24.300 0.989 D D 0.439 4.597 0.531 5.454 1.000 0.732 0.725 0.744 0.714 . 6.160 6.160 5.505 1.138 0.665 1.000 0.998 0.984 889 . . . . KIAA1109 240 0 188 39 0.171806167400881 TRUE TRUE +ENSG00000164114.19 . BCM GRCh38.p13 chr4 155355111 155355111 + T T G Missense_Mutation SNP ENST00000311277.9 exon10 c.A1340C p.K447T exonic ENSG00000164114.19 . nonsynonymous SNV ENSG00000164114.19:ENST00000311277.9:exon10:c.A1340C:p.K447T 4q32.1 C3L-01885 . . . . . . . . . 10.20 D D D P D D M T D 0.470 T T T 0.181 0.336 0.417 0.286 T T T T D T 3.871 26.200 0.998 D D 0.661 6.607 0.631 6.632 0.912 0.638 0.670 0.653 0.621 . 5.130 5.130 3.336 1.138 0.609 1.000 1.000 0.999 837 . . . . MAP9 119 0 125 31 0.198717948717949 TRUE NA +ENSG00000038382.20 . BCM GRCh38.p13 chr5 14488084 14488084 + T T A Missense_Mutation SNP ENST00000344204.9 exon48 c.T7456A p.W2486R exonic ENSG00000038382.20 . nonsynonymous SNV ENSG00000038382.20:ENST00000344204.9:exon48:c.T7456A:p.W2486R 5p15.2 C3L-01885 . . . . . . . . . 14.20 D D D D D D M T D 0.680 T T D 0.333 0.348 0.662 0.530 T T D D D T 4.201 28.700 0.996 D D 0.176 3.199 0.275 3.573 1.000 0.742 0.607 0.775 0.563 . 4.990 4.990 4.992 1.121 0.657 1.000 1.000 1.000 739 . . . . TRIO 114 0 72 48 0.4 TRUE TRUE +ENSG00000113360.16 . BCM GRCh38.p13 chr5 31464238 31464238 + G G C Missense_Mutation SNP ENST00000511367.6 exon19 c.C2572G p.Q858E exonic ENSG00000113360.16 . nonsynonymous SNV ENSG00000113360.16:ENST00000511367.6:exon19:c.C2572G:p.Q858E 5p13.3 C3L-01885 . . . . . . . . . 12.20 T D P B D D L T D 0.797 T T T 0.309 0.461 0.809 1.624 D D D D D D 3.987 26.900 0.994 D D 0.753 7.937 0.795 9.971 1.000 0.707 0.725 0.725 0.526 . 5.920 5.920 9.459 1.176 0.676 1.000 1.000 0.947 651 . . . . DROSHA 231 0 187 46 0.197424892703863 TRUE TRUE +ENSG00000152582.14 . BCM GRCh38.p13 chr5 35800057 35800057 + - NA A Frame_Shift_Ins NA ENST00000356031.8 exon34 c.4921dupA p.T1641Nfs*35 exonic ENSG00000152582.14 . frameshift insertion ENSG00000152582.14:ENST00000356031.8:exon34:c.4921dupA:p.T1641Nfs*35 5p13.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPEF2 NA NA NA NA NA NA NA +ENSG00000086570.12 . BCM GRCh38.p13 chr5 151549321 151549321 + G G T Missense_Mutation SNP ENST00000261800.5 exon8 c.C4763A p.A1588D exonic ENSG00000086570.12 . nonsynonymous SNV ENSG00000086570.12:ENST00000261800.5:exon8:c.C4763A:p.A1588D 5q33.1 C3L-01885 . . . . . . . . . 14.20 D D D D D D M T D 0.878 T T D 0.438 0.830 0.809 0.675 T T D D D T 3.732 25.500 0.998 D D 0.612 6.051 0.530 5.442 1.000 0.487 0.574 0.574 0.564 . 5.130 4.220 7.521 1.176 0.676 1.000 0.996 0.511 881 Cadherin-like . . ID=COSV55815928;OCCURENCE=1(kidney) FAT2 201 0 164 73 0.308016877637131 TRUE TRUE +ENSG00000170927.15 . BCM GRCh38.p13 chr6 51619465 51619465 + C C T Missense_Mutation SNP ENST00000371117.8 exon67 c.G11841A p.M3947I exonic ENSG00000170927.15 . nonsynonymous SNV ENSG00000170927.15:ENST00000371117.8:exon67:c.G11841A:p.M3947I 6p12.3 C3L-01885 . . . . . . . . . 2.20 T T B B N N N D N 0.074 T T D 0.150 0.247 0.534 0.066 T T T T T T 0.795 9.346 0.625 N N -1.043 0.360 -0.991 0.500 0.000 0.487 0.574 0.574 0.564 . 5.530 1.580 0.820 -0.261 -0.953 0.762 0.003 0.005 663 . . . ID=COSV100945119;OCCURENCE=1(endometrium) PKHD1 140 0 84 24 0.222222222222222 TRUE TRUE +ENSG00000197498.13 . BCM GRCh38.p13 chr6 111024198 111024198 + A A C Missense_Mutation SNP ENST00000441448.7 exon9 c.A612C p.K204N exonic ENSG00000197498.13 . nonsynonymous SNV ENSG00000197498.13:ENST00000441448.7:exon9:c.A612C:p.K204N 6q21 C3L-01885 . . . . . . . . . 12.20 D D D D D D M T D 0.682 T T D 0.201 0.568 0.546 0.727 T T T T D D 3.476 24.600 0.996 D N 0.202 3.312 0.095 2.713 0.000 0.732 0.744 0.744 0.684 . 5.640 1.990 2.192 -0.053 -0.611 1.000 0.983 0.305 601 Brix_domain . . ID=COSV64369188;OCCURENCE=1(prostate) RPF2 140 0 106 28 0.208955223880597 NA TRUE +ENSG00000223614.5 . BCM GRCh38.p13 chr7 64213116 64213116 + G G A Missense_Mutation SNP ENST00000429565.4 exon2 c.G64A p.A22T exonic ENSG00000223614.5 . nonsynonymous SNV ENSG00000223614.5:ENST00000429565.4:exon2:c.G64A:p.A22T 7q11.21 C3L-01885 . . . . . . . . . 0.10 . T P P . . L . . 0.268 . . . . . 0.014 . T T T T . T 1.113 12.890 0.597 N . . . . . 0.000 0.061 0.063 0.063 0.057 0.079 0.149 0.149 0.331 0.441 0.337 0.012 0.002 0.002 878 Krueppel-associated_box . . . ZNF735 216 1 153 37 0.194736842105263 NA TRUE +ENSG00000055118.15 . BCM GRCh38.p13 chr7 150974713 150974713 + T T C Missense_Mutation SNP ENST00000262186.10 exon2 c.A305G p.D102G exonic ENSG00000055118.15 . nonsynonymous SNV ENSG00000055118.15:ENST00000262186.10:exon2:c.A305G:p.D102G 7q36.1 C3L-01885 . . . . . . . . . 16.20 D D B B N D M D D 0.576 D D D 0.740 0.655 0.945 2.373 T D D D D D 4.707 32 0.998 D D 0.069 2.766 0.076 2.639 1.000 0.767 0.560 0.851 0.555 . 4.380 3.220 4.984 1.129 0.597 1.000 1.000 0.993 929 PAS_domain;PAS-associated,_C-terminal . . . KCNH2 193 0 149 21 0.123529411764706 TRUE TRUE +ENSG00000107185.10 . BCM GRCh38.p13 chr9 35749769 35749769 + T T C Missense_Mutation SNP ENST00000378078.5 exon2 c.T14C p.V5A exonic ENSG00000107185.10 . nonsynonymous SNV ENSG00000107185.10:ENST00000378078.5:exon2:c.T14C:p.V5A 9p13.3 C3L-01885 . . . . . . . . . 6.19 T T B B D D M . N 0.381 T T T 0.083 0.276 0.240 0.262 T T T T D T 2.848 23.100 0.988 D D -0.078 2.246 0.063 2.587 1.000 0.442 0.522 0.522 0.562 . 5.550 4.390 5.187 1.138 0.609 1.000 1.000 0.999 98 . . . . RGP1 327 0 238 64 0.211920529801325 TRUE TRUE +ENSG00000165029.16 . BCM GRCh38.p13 chr9 104810876 104810876 + T T C Missense_Mutation SNP ENST00000374736.8 exon29 c.A4099G p.I1367V exonic ENSG00000165029.16 . nonsynonymous SNV ENSG00000165029.16:ENST00000374736.8:exon29:c.A4099G:p.I1367V 9q31.1 C3L-01885 . . . . . . . . . 13.20 T T B B D D L D N 0.436 D D D 0.344 0.379 0.897 0.307 D T D D D D 3.109 23.600 0.997 D D 0.132 3.017 0.313 3.794 1.000 0.719 0.610 0.723 0.636 . 5.550 5.550 7.983 1.138 0.665 1.000 1.000 0.982 947 . . . . ABCA1 339 0 266 78 0.226744186046512 TRUE TRUE +ENSG00000148357.16 . BCM GRCh38.p13 chr9 130299081 130299081 + G G T Missense_Mutation SNP ENST00000624552.3 exon8 c.G1066T p.D356Y exonic ENSG00000148357.16 . nonsynonymous SNV ENSG00000148357.16:ENST00000624552.3:exon8:c.G1066T:p.D356Y 9q34.11 C3L-01885 . . . . . . . . . 2.10 . D . . . . . . . 0.463 T T . 0.214 . 0.403 . . T T T D T 3.160 23.800 0.770 N N -0.218 1.825 -0.273 1.621 1.000 0.497 0.590 0.496 0.563 . 4.500 3.600 3.057 0.209 0.584 1.000 0.001 0.009 568 . . . . HMCN2 164 0 165 46 0.218009478672986 TRUE TRUE +ENSG00000177943.14 . BCM GRCh38.p13 chr9 136857237 136857237 + A A G Missense_Mutation SNP ENST00000445819.5 exon19 c.A2282G p.N761S exonic ENSG00000177943.14 . nonsynonymous SNV ENSG00000177943.14:ENST00000445819.5:exon19:c.A2282G:p.N761S 9q34.3 C3L-01885 . . . . . . . . . 9.20 D T D D D N M T D 0.751 T T D 0.146 0.562 0.448 0.179 T T T T D T 2.734 22.900 0.999 D N 0.422 4.479 0.393 4.307 1.000 0.660 0.694 0.696 0.664 . 4.720 4.720 3.728 1.312 0.756 0.999 1.000 0.943 964 MAM_domain . . . MAMDC4 186 0 149 44 0.227979274611399 TRUE TRUE +ENSG00000165733.8 . BCM GRCh38.p13 chr10 42790466 42790466 + G G T Missense_Mutation SNP ENST00000374518.6 exon5 c.G591T p.K197N exonic ENSG00000165733.8 . nonsynonymous SNV ENSG00000165733.8:ENST00000374518.6:exon5:c.G591T:p.K197N 10q11.21 C3L-01885 . . . . . . . . . 8.20 T T P P D D M T D 0.589 T T T 0.128 0.460 0.540 0.529 D T T T D D 2.329 21.700 0.998 D N 0.254 3.552 0.270 3.546 0.003 0.707 0.725 0.702 0.714 . 5.400 3.560 3.917 0.226 -0.107 1.000 0.997 0.812 867 Bms1/Tsr1-type_G_domain;Ribosome_biogenesis_protein_Bms1,_N-terminal . . . BMS1 414 0 266 54 0.16875 NA TRUE +ENSG00000166224.17 . BCM GRCh38.p13 chr10 70869877 70869877 + A A G Missense_Mutation SNP ENST00000373202.8 exon9 c.A790G p.M264V exonic ENSG00000166224.17 . nonsynonymous SNV ENSG00000166224.17:ENST00000373202.8:exon9:c.A790G:p.M264V 10q22.1 C3L-01885 8.24e-06 9.612e-05 0 0 0 0 0 0 rs141665233 1.20 T T B B N N N T N 0.201 T T T 0.079 . 0.417 0.310 T T T T T T 2.102 20.100 0.970 D N -0.279 1.666 -0.009 2.330 0.988 0.732 0.710 0.744 0.714 . 5.650 5.650 3.443 0.318 -0.097 1.000 0.704 0.959 688 . . . . SGPL1 182 0 128 28 0.179487179487179 TRUE NA +ENSG00000152778.9 . BCM GRCh38.p13 chr10 89417691 89417691 + G G - Frame_Shift_Del DEL ENST00000371795.5 exon2 c.492delG p.K165Rfs*32 exonic ENSG00000152778.9 . frameshift deletion ENSG00000152778.9:ENST00000371795.5:exon2:c.492delG:p.K165Rfs*32 10q23.31 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFIT5 235 0 153 44 0.223350253807107 TRUE TRUE +ENSG00000198408.14 . BCM GRCh38.p13 chr10 101791060 101791060 + G G C Missense_Mutation SNP ENST00000361464.8 exon14 c.C2290G p.L764V exonic ENSG00000198408.14 . nonsynonymous SNV ENSG00000198408.14:ENST00000361464.8:exon14:c.C2290G:p.L764V 10q24.32 C3L-01885 . . . . . . . . . 5.19 T D B B D D . T N 0.472 T T T 0.046 0.708 0.381 1.134 T T T T T D 1.795 17.700 0.990 D N -0.372 1.444 -0.195 1.798 0.000 0.707 0.702 0.725 0.711 . 5.770 1.580 2.508 0.218 0.676 1.000 1.000 0.995 482 . . . . OGA 177 0 95 42 0.306569343065693 TRUE TRUE +ENSG00000107862.5 . BCM GRCh38.p13 chr10 102368283 102368283 + T T C Missense_Mutation SNP ENST00000369983.3 exon22 c.T2705C p.V902A exonic ENSG00000107862.5 . nonsynonymous SNV ENSG00000107862.5:ENST00000369983.3:exon22:c.T2705C:p.V902A 10q24.32 C3L-01885 . . . . . . . . . 11.20 D D P P D D M T D 0.792 T T D 0.228 0.481 0.735 0.868 T T T T D D 3.961 26.700 0.998 D D 0.512 5.133 0.480 4.985 1.000 0.707 0.725 0.693 0.714 . 5.490 5.490 7.835 1.138 0.665 1.000 0.965 0.758 720 . . . . GBF1 456 0 271 69 0.202941176470588 TRUE TRUE +ENSG00000148735.15 . BCM GRCh38.p13 chr10 113766435 113766435 + A A - Frame_Shift_Del DEL ENST00000369310.7 exon2 c.35delA p.N13Mfs*21 exonic ENSG00000148735.15 . frameshift deletion ENSG00000148735.15:ENST00000369310.7:exon2:c.35delA:p.N13Mfs*21 10q25.3 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHS1 210 0 163 55 0.252293577981651 TRUE NA +ENSG00000154493.19 . BCM GRCh38.p13 chr10 126464702 126464702 + G G T Missense_Mutation SNP ENST00000284694.11 exon4 c.C1528A p.P510T exonic ENSG00000154493.19 . nonsynonymous SNV ENSG00000154493.19:ENST00000284694.11:exon4:c.C1528A:p.P510T 10q26.2 C3L-01885 . . . . . . . . . 9.19 D T D D D D M T D 0.232 T T T 0.111 . 0.389 0.359 . T T T D T 2.199 20.900 0.989 D N 0.272 3.638 0.126 2.845 1.000 0.487 0.574 0.574 0.564 . 4.440 4.440 2.977 1.176 0.665 0.878 0.169 0.014 620 . . . . C10orf90 89 0 66 18 0.214285714285714 TRUE TRUE +ENSG00000166340.17 . BCM GRCh38.p13 chr11 6614960 6614960 + G G C Missense_Mutation SNP ENST00000299427.12 exon12 c.C1457G p.S486C exonic ENSG00000166340.17 . nonsynonymous SNV ENSG00000166340.17:ENST00000299427.12:exon12:c.C1457G:p.S486C 11p15.4 C3L-01885 . . . . . . . . . 19.20 D D D D D D M D D 0.703 D D D 0.924 0.653 0.991 0.684 T D D D D D 4.106 27.800 0.991 D D 0.923 11.672 0.841 11.439 1.000 0.732 0.723 0.744 0.711 . 4.880 4.880 9.109 1.176 0.676 1.000 0.816 0.858 509 Sedolisin_domain . . . TPP1 468 0 336 95 0.220417633410673 TRUE TRUE +ENSG00000186714.12 . BCM GRCh38.p13 chr11 32641980 32641980 + T T C Missense_Mutation SNP ENST00000335185.9 exon13 c.A1042G p.K348E exonic ENSG00000186714.12 . nonsynonymous SNV ENSG00000186714.12:ENST00000335185.9:exon13:c.A1042G:p.K348E 11p13 C3L-01885 . . . . . . . . . 2.19 T T P P D N L . N 0.402 T T T 0.091 0.154 0.263 0.227 T T T T T T 2.917 23.200 0.998 D N 0.037 2.644 0.133 2.872 0.000 0.487 0.547 0.547 0.564 . 5.430 4.100 1.899 1.138 0.609 1.000 1.000 0.994 367 . . . . CCDC73 120 0 112 33 0.227586206896552 TRUE TRUE +ENSG00000241233.4 . BCM GRCh38.p13 chr11 71538579 71538579 + C C G Missense_Mutation SNP ENST00000398534.4 exon1 c.C524G p.S175C exonic ENSG00000241233.4 . nonsynonymous SNV ENSG00000241233.4:ENST00000398534.4:exon1:c.C524G:p.S175C 11q13.4 C3L-01885 . . . . . . . . . 7.18 D D D D . N M T D 0.229 T T T 0.067 0.184 0.122 0.044 . T T T D T 2.362 21.900 0.933 N N 0.256 3.560 -0.001 2.356 0.013 0.560 0.624 0.555 0.613 . 1.670 1.670 0.407 -0.460 0.517 0.054 0.070 0.624 599 . . . . KRTAP5-8 421 0 289 75 0.206043956043956 NA TRUE +ENSG00000154127.10 . BCM GRCh38.p13 chr11 122797000 122797000 + A A T Missense_Mutation SNP ENST00000284273.6 exon9 c.A1324T p.T442S exonic ENSG00000154127.10 . nonsynonymous SNV ENSG00000154127.10:ENST00000284273.6:exon9:c.A1324T:p.T442S 11q24.1 C3L-01885 . . . . . . . . . 7.20 T T B B D D L T N 0.929 T T T 0.181 0.724 0.489 0.946 T T D D D T 2.068 19.770 0.970 D D 0.016 2.567 0.231 3.340 1.000 0.707 0.588 0.659 0.714 . 5.620 5.620 8.873 1.207 0.756 1.000 1.000 0.993 868 . . . . UBASH3B 116 0 132 7 0.0503597122302158 TRUE TRUE +ENSG00000111490.15 . BCM GRCh38.p13 chr12 64870668 64870668 + C C G Missense_Mutation SNP ENST00000542120.6 exon12 c.C1847G p.S616C exonic ENSG00000111490.15;ENSG00000288591.1 . nonsynonymous SNV ENSG00000111490.15:ENST00000542120.6:exon12:c.C1847G:p.S616C,ENSG00000288591.1:ENST00000674281.1:exon13:c.C1016G:p.S339C 12q14.3 C3L-01885 . . . . . . . . . 8.17 D D . . D D . T N 0.394 T T T 0.162 . 0.362 . T T T T D D 3.583 25.000 0.989 D D 0.513 5.135 0.506 5.211 1.000 0.707 0.725 0.659 0.655 . 5.940 5.940 5.248 1.026 0.549 1.000 0.874 0.332 467 . . . . TBC1D30 327 0 247 46 0.156996587030717 TRUE TRUE +ENSG00000173598.14 . BCM GRCh38.p13 chr12 93378393 93378393 + T T A Missense_Mutation SNP ENST00000415493.7 exon1 c.T71A p.L24Q exonic ENSG00000173598.14 . nonsynonymous SNV ENSG00000173598.14:ENST00000415493.7:exon1:c.T71A:p.L24Q 12q22 C3L-01885 . . . . . . . . . 16.20 D D D D D D M T D 0.860 T T D 0.450 0.702 0.533 2.502 D T D D D D 4.593 32 0.994 D D 0.785 8.501 0.683 7.440 1.000 0.243 0.484 0.391 0.373 . 4.680 4.680 7.394 1.133 0.607 1.000 1.000 0.954 897 NUDIX_hydrolase_domain . . . NUDT4 72 0 48 17 0.261538461538462 TRUE TRUE +ENSG00000083520.15 . BCM GRCh38.p13 chr13 72773719 72773719 + T T C Missense_Mutation SNP ENST00000377767.9 exon8 c.A1204G p.I402V exonic ENSG00000083520.15 . nonsynonymous SNV ENSG00000083520.15:ENST00000377767.9:exon8:c.A1204G:p.I402V 13q21.33 C3L-01885 . . . . . . . . . 3.20 T T B B N D L T N 0.286 T T T 0.018 0.441 0.270 0.110 T T T T T D 1.241 13.950 0.965 D N -0.419 1.342 -0.287 1.591 1.000 0.732 0.744 0.725 0.728 . 5.630 0.519 1.508 1.135 0.660 1.000 1.000 0.998 877 . . . ID=COSV66708227;OCCURENCE=1(liver) DIS3 205 0 144 44 0.234042553191489 TRUE TRUE +ENSG00000134899.22 . BCM GRCh38.p13 chr13 102862888 102862888 + C C G Missense_Mutation SNP ENST00000652225.2 exon8 c.C1739G p.P580R exonic ENSG00000134899.22;ENSG00000270181.3 . nonsynonymous SNV ENSG00000134899.22:ENST00000652225.2:exon8:c.C1739G:p.P580R,ENSG00000270181.3:ENST00000639435.1:exon18:c.C3101G:p.P1034R 13q33.1 C3L-01885 . . . . . . . . . 1.19 D T B B N N N T N 0.031 T T T 0.049 0.302 0.394 0.149 . T T T T T 0.898 10.410 0.941 N N -0.747 0.736 -0.706 0.891 1.000 0.706 0.725 0.710 0.714 . 5.610 4.770 1.021 0.030 0.549 0.001 0.012 0.021 934 . . . . ERCC5 306 0 275 25 0.0833333333333333 TRUE TRUE +ENSG00000134905.17 . BCM GRCh38.p13 chr13 110647206 110647206 + G G A Missense_Mutation SNP ENST00000257347.9 exon11 c.C1088T p.A363V exonic ENSG00000134905.17 . nonsynonymous SNV ENSG00000134905.17:ENST00000257347.9:exon11:c.C1088T:p.A363V 13q34 C3L-01885 . . . . . . . . . 11.20 D T D D D D M T D 0.663 T T D 0.387 0.837 0.599 0.687 T D T T D T 3.127 23.700 0.999 D N 0.453 4.693 0.285 3.633 1.000 0.706 0.702 0.644 0.613 . 5.090 5.090 5.761 1.176 0.676 0.983 0.248 0.154 988 tRNA_synthetases_class_I,_catalytic_domain . . . CARS2 93 0 76 21 0.216494845360825 TRUE NA +ENSG00000139865.16 . BCM GRCh38.p13 chr14 37823913 37823913 + C C G Missense_Mutation SNP ENST00000476979.5 exon9 c.C832G p.P278A exonic ENSG00000139865.16 . nonsynonymous SNV ENSG00000139865.16:ENST00000476979.5:exon9:c.C832G:p.P278A 14q21.1 C3L-01885 . . . . . . . . . 15.19 D D D D D . H T D 0.752 D D D 0.510 . 0.910 0.244 T T D D D T 2.858 23.100 0.992 D D 0.841 9.644 0.742 8.620 1.000 0.487 0.574 0.574 0.564 . 6.170 6.170 6.021 1.026 0.599 1.000 0.034 0.526 588 Tetratricopeptide_repeat-containing_domain . . . TTC6 289 0 241 21 0.0801526717557252 TRUE TRUE +ENSG00000021776.11 . BCM GRCh38.p13 chr15 34969611 34969611 + C C T Translation_Start_Site SNP ENST00000156471.10 exon1 c.G3A p.M1? exonic ENSG00000021776.11 . startloss ENSG00000021776.11:ENST00000156471.10:exon1:c.G3A:p.M1? 15q14 C3L-01885 . . . . . . . . . 12.18 D D B B N D . D N 0.761 D D D 0.573 0.994 0.964 . . T D D D D 2.768 23.000 0.992 D N -0.074 2.259 0.049 2.535 1.000 0.442 0.522 0.522 0.373 . 5.030 5.030 2.460 1.022 0.596 1.000 0.270 0.789 934 . . . . AQR 200 0 143 12 0.0774193548387097 TRUE TRUE +ENSG00000183578.8 . BCM GRCh38.p13 chr15 51105029 51105029 + G G T Missense_Mutation SNP ENST00000327536.5 exon1 c.C148A p.H50N exonic ENSG00000183578.8 . nonsynonymous SNV ENSG00000183578.8:ENST00000327536.5:exon1:c.C148A:p.H50N 15q21.2 C3L-01885 . . . . . . . . . 1.19 D T B B . N N T N 0.231 T T T 0.014 0.181 0.014 0.238 T T T T T T -1.071 0.005 0.731 N N -1.514 0.077 -1.601 0.075 1.000 0.447 0.563 0.547 0.632 . 3.470 -4.770 -2.305 -0.009 -0.236 0.000 0.027 0.020 354 . . . . TNFAIP8L3 295 0 321 36 0.100840336134454 TRUE TRUE +ENSG00000140525.18 . BCM GRCh38.p13 chr15 89314648 89314648 + C C T Missense_Mutation SNP ENST00000310775.12 exon36 c.C3757T p.L1253F exonic ENSG00000140525.18 . nonsynonymous SNV ENSG00000140525.18:ENST00000310775.12:exon36:c.C3757T:p.L1253F 15q26.1 C3L-01885 . . . . . . . . . 17.20 D D D D D D M D D 0.951 D D D 0.605 0.236 0.965 0.122 T T D D D D 3.698 25.400 0.999 D N 0.786 8.513 0.776 9.456 1.000 0.672 0.702 0.702 0.711 . 6.170 6.170 2.513 1.026 0.599 1.000 0.997 0.996 945 FANCI_solenoid_4_domain . . . FANCI 382 0 287 73 0.202777777777778 TRUE TRUE +ENSG00000080603.17 . BCM GRCh38.p13 chr16 30712412 30712412 + C C G Missense_Mutation SNP ENST00000380361.7 exon10 c.C1909G p.L637V exonic ENSG00000080603.17;ENSG00000282034.1 . nonsynonymous SNV ENSG00000282034.1:ENST00000380361.7:exon10:c.C1909G:p.L637V,ENSG00000080603.17:ENST00000262518.9:exon13:c.C1966G:p.L656V 16p11.2 C3L-01885 . . . . . . . . . 17.20 D D D D D D L D D 0.627 D D D 0.798 0.776 0.827 0.541 T D D D D D 2.971 23.400 0.989 D N 0.442 4.612 0.397 4.339 1.000 0.707 0.698 0.725 0.711 . 5.220 4.100 0.784 0.138 0.599 0.993 0.997 0.997 10 Helicase_superfamily_1/2,_ATP-binding_domain;SNF2-related,_N-terminal_domain . . . SRCAP 30 0 23 7 0.233333333333333 TRUE TRUE +ENSG00000150394.14 . BCM GRCh38.p13 chr16 61653765 61653765 + C C G Missense_Mutation SNP ENST00000577390.6 exon12 c.G2243C p.G748A exonic ENSG00000150394.14 . nonsynonymous SNV ENSG00000150394.14:ENST00000577390.6:exon12:c.G2243C:p.G748A 16q21 C3L-01885 . . . . . . . . . 7.18 . T B B D D N T . 0.370 T T T 0.144 0.670 0.611 1.407 D T T T D D 1.613 16.460 0.939 D D -0.203 1.868 0.069 2.609 0.902 0.554 0.574 0.618 0.564 . 5.700 5.700 4.874 1.026 0.599 1.000 1.000 0.998 780 Cadherin,_cytoplasmic_domain . . . CDH8 228 0 157 48 0.234146341463415 TRUE TRUE +ENSG00000166589.13 . BCM GRCh38.p13 chr16 66910452 66910452 + C C - Frame_Shift_Del DEL ENST00000299752.9 exon15 c.1975delG p.A659Pfs*7 exonic ENSG00000166589.13 . frameshift deletion ENSG00000166589.13:ENST00000299752.9:exon15:c.1975delG:p.A659Pfs*7 16q22.1 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH16 21 0 18 8 0.307692307692308 TRUE TRUE +ENSG00000157353.17 . BCM GRCh38.p13 chr16 70478418 70478418 + G G A Missense_Mutation SNP ENST00000288078.11 exon21 c.G2788A p.V930M exonic ENSG00000157353.17 . nonsynonymous SNV ENSG00000157353.17:ENST00000288078.11:exon21:c.G2788A:p.V930M 16q22.1 C3L-01885 2.488e-05 0 0 0 0 0 0 0.0002 rs763297173 14.20 T D D D D D M D N 0.675 D D D 0.709 0.505 0.930 0.356 T T T D T D 3.784 25.800 0.977 D D 0.827 9.326 0.791 9.864 1.000 0.722 0.699 0.269 0.636 . 5.760 5.760 3.630 1.176 0.676 1.000 1.000 0.995 109 . . . ID=COSV55372490;OCCURENCE=1(large_intestine) FCSK 199 0 145 46 0.240837696335079 TRUE TRUE +ENSG00000011295.16 . BCM GRCh38.p13 chr17 16025106 16025107 + GC GC - Frame_Shift_Del DEL ENST00000261647.10 exon8 c.766_767del p.A256Tfs*5 exonic ENSG00000011295.16 . frameshift deletion ENSG00000011295.16:ENST00000261647.10:exon8:c.766_767del:p.A256Tfs*5 17p12 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC19 419 0 264 65 0.197568389057751 TRUE TRUE +ENSG00000141314.13 . BCM GRCh38.p13 chr17 32294430 32294430 + T T G Missense_Mutation SNP ENST00000269051.9 exon5 c.T656G p.F219C exonic ENSG00000141314.13 . nonsynonymous SNV ENSG00000141314.13:ENST00000269051.9:exon5:c.T656G:p.F219C 17q11.2 C3L-01885 . . . . . . . . . 16.20 D D D D D D M T D 0.967 T T D 0.646 0.777 0.896 1.067 D T D D D D 4.512 32 0.994 D D 0.858 10.020 0.855 11.961 1.000 0.706 0.590 0.710 0.542 . 6.170 6.170 7.674 1.138 0.665 1.000 1.000 1.000 967 Peptidase_S54,_rhomboid_domain . . . RHBDL3 124 0 132 11 0.0769230769230769 TRUE TRUE +ENSG00000198863.7 . BCM GRCh38.p13 chr17 42980636 42980636 + G G T Missense_Mutation SNP ENST00000361677.5 exon1 c.G60T p.K20N exonic ENSG00000198863.7 . nonsynonymous SNV ENSG00000198863.7:ENST00000361677.5:exon1:c.G60T:p.K20N 17q21.31 C3L-01885 . . . . . . . . . 2.20 D T D P N N L T N 0.128 T T T 0.105 0.142 0.279 0.736 T T T T T T 2.436 22.200 0.805 N N -0.652 0.896 -0.769 0.802 1.000 0.243 0.484 0.391 0.250 . 5.050 0.875 0.426 -0.127 -0.797 0.061 0.027 0.007 194 . . . . RUNDC1 257 0 188 46 0.196581196581197 TRUE TRUE +ENSG00000108389.9 . BCM GRCh38.p13 chr17 58504398 58504398 + T T G Missense_Mutation SNP ENST00000323456.9 exon13 c.A1390C p.N464H exonic ENSG00000108389.9 . nonsynonymous SNV ENSG00000108389.9:ENST00000323456.9:exon13:c.A1390C:p.N464H 17q22 C3L-01885 . . . . . . . . . 17.20 D D D D N D M D D 0.376 D D D 0.651 0.329 0.827 2.410 T D D T D D 3.904 26.400 0.997 D D 0.826 9.307 0.788 9.770 1.000 0.707 0.696 0.702 0.714 . 5.630 5.630 7.674 1.138 0.609 1.000 0.997 0.994 327 Myotubularin-like_phosphatase_domain . . . MTMR4 158 0 180 20 0.1 TRUE TRUE +ENSG00000166960.16 . BCM GRCh38.p13 chr18 33226846 33226846 + C C T Missense_Mutation SNP ENST00000383096.7 exon16 c.G1603A p.E535K exonic ENSG00000166960.16 . nonsynonymous SNV ENSG00000166960.16:ENST00000383096.7:exon16:c.G1603A:p.E535K 18q12.1 C3L-01885 . . . . . . . . . 6.19 D D P P . D L T N 0.370 T T T 0.071 0.563 0.243 0.083 T T T T D D 3.910 26.400 0.986 D N 0.342 4.003 0.368 4.139 0.152 0.487 0.574 0.574 0.613 . 5.160 5.160 3.669 1.026 0.599 1.000 0.995 0.928 699 . . . . CCDC178 132 0 144 19 0.116564417177914 TRUE TRUE +ENSG00000130856.16 . BCM GRCh38.p13 chr18 76875624 76875626 + AAG AAG - In_Frame_Del DEL ENST00000253159.12 exon6 c.794_796del p.K265_G266delinsR exonic ENSG00000130856.16 . nonframeshift deletion ENSG00000130856.16:ENST00000253159.12:exon6:c.794_796del:p.K265_G266delinsR 18q23 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF236 77 0 47 15 0.241935483870968 TRUE TRUE +ENSG00000181786.5 . BCM GRCh38.p13 chr19 8698643 8698643 + G G A Missense_Mutation SNP ENST00000324436.5 exon1 c.C59T p.P20L exonic ENSG00000181786.5 . nonsynonymous SNV ENSG00000181786.5:ENST00000324436.5:exon1:c.C59T:p.P20L 19p13.2 C3L-01885 . . . . . . . . . 5.15 D D . . N N . D N 0.241 T D D 0.294 0.069 0.565 0.470 T . T T T . 0.842 9.822 0.984 N N -0.839 0.600 -0.831 0.715 0.217 0.526 0.574 0.596 0.584 . 3.120 3.120 1.125 0.176 -0.153 0.003 0.001 0.001 . . . . . ACTL9 32 0 35 14 0.285714285714286 TRUE TRUE +ENSG00000125755.19 . BCM GRCh38.p13 chr19 45830089 45830089 + C C G Missense_Mutation SNP ENST00000245934.12 exon13 c.G1714C p.A572P exonic ENSG00000125755.19 . nonsynonymous SNV ENSG00000125755.19:ENST00000245934.12:exon13:c.G1714C:p.A572P 19q13.32 C3L-01885 . . . . . . . . . 11.19 D D P B D D L . D 0.632 T T T 0.224 0.615 0.151 1.452 T D D T D D 3.122 23.700 0.998 D D 0.541 5.374 0.598 6.203 1.000 0.707 0.702 0.725 0.714 . 6.140 6.140 1.730 1.026 0.599 0.985 0.995 0.997 809 . . . . SYMPK 108 0 88 24 0.214285714285714 TRUE TRUE +ENSG00000087088.20 . BCM GRCh38.p13 chr19 48960829 48960829 + C C G Missense_Mutation SNP ENST00000345358.12 exon5 c.C389G p.P130R exonic ENSG00000087088.20 . nonsynonymous SNV ENSG00000087088.20:ENST00000345358.12:exon5:c.C389G:p.P130R 19q13.33 C3L-01885 . . . . . . . . . 12.20 D T D D D D L T D 0.820 T T D 0.221 0.460 0.387 0.615 D T T T D D 3.677 25.300 0.912 D D -0.089 2.209 -0.163 1.878 1.000 0.672 0.702 0.644 0.711 . 3.100 2.030 5.151 1.001 0.585 0.998 0.998 0.849 754 . . . . BAX 84 0 62 19 0.234567901234568 TRUE TRUE +ENSG00000126467.11 . BCM GRCh38.p13 chr19 49746573 49746573 + C C A Missense_Mutation SNP ENST00000246801.8 exon6 c.G889T p.G297C exonic ENSG00000126467.11 . nonsynonymous SNV ENSG00000126467.11:ENST00000246801.8:exon6:c.G889T:p.G297C 19q13.33 C3L-01885 . . . . . . . . . 2.20 T D B B N N L T D 0.198 T T T 0.022 0.274 0.043 0.245 T T T T T T 0.012 1.411 0.985 N N -1.370 0.130 -1.469 0.120 1.000 0.517 0.547 0.596 0.553 . 4.870 -6.630 -1.483 -1.410 -0.952 0.000 0.000 0.000 794 . . . . TSKS 150 0 137 31 0.18452380952381 TRUE TRUE +ENSG00000101421.4 . BCM GRCh38.p13 chr20 33852119 33852119 + C C G Missense_Mutation SNP ENST00000217402.3 exon4 c.C526G p.L176V exonic ENSG00000101421.4 . nonsynonymous SNV ENSG00000101421.4:ENST00000217402.3:exon4:c.C526G:p.L176V 20q11.22 C3L-01885 . . . . . . . . . 10.20 T T P P D D M T N 0.640 T T D 0.415 0.450 0.738 1.766 D D T T D D 2.596 22.600 0.998 D D 0.328 3.928 0.369 4.146 0.916 0.707 0.725 0.725 0.714 . 6.110 5.150 0.588 0.136 0.596 0.996 0.999 1.000 284 . . . . CHMP4B 463 1 385 83 0.177350427350427 TRUE TRUE +ENSG00000184571.13 . BCM GRCh38.p13 chr22 24719563 24719563 + C C G Missense_Mutation SNP ENST00000332271.9 exon21 c.G2558C p.C853S exonic ENSG00000184571.13 . nonsynonymous SNV ENSG00000184571.13:ENST00000332271.9:exon21:c.G2558C:p.C853S 22q11.23 C3L-01885 . . . . . . . . . 12.20 D D D D D D M T D 0.776 T T T 0.335 0.847 0.642 0.598 T T T T D D 3.352 24.300 0.993 D D 0.628 6.222 0.444 4.685 1.000 0.554 0.574 0.602 0.530 . 3.140 3.140 6.780 0.671 0.504 1.000 0.359 0.158 472 Piwi_domain . . . PIWIL3 74 0 78 8 0.0930232558139535 TRUE TRUE +ENSG00000128159.12 . BCM GRCh38.p13 chr22 50218076 50218076 + A A G Missense_Mutation SNP ENST00000248846.10 exon24 c.T5210C p.I1737T exonic ENSG00000128159.12 . nonsynonymous SNV ENSG00000128159.12:ENST00000248846.10:exon24:c.T5210C:p.I1737T 22q13.33 C3L-01885 . . . . . . . . . 16.20 D D D D D D M T D 0.849 T T D 0.531 0.660 0.653 0.595 D T D D D D 4.092 27.700 0.996 D D 0.585 5.773 0.519 5.338 1.000 0.672 0.702 0.702 0.711 . 4.880 4.880 9.245 1.312 0.691 1.000 0.999 0.933 684 . . . . TUBGCP6 155 0 102 30 0.227272727272727 TRUE TRUE +ENSG00000166446.15 . BCM GRCh38.p13 chr16 80620936 80620936 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000166446.15 ENST00000570137.7:exon4:c.835-1G>T . . 16q23.2 C3L-01885 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.826 35 0.995 D . 1.195 23.228 1.046 21.972 1.000 0.165 0.196 0.091 0.118 0.986 5.290 5.290 7.905 1.026 0.599 1.000 1.000 0.990 943 . . . . CDYL2 46 0 44 9 0.169811320754717 TRUE TRUE +ENSG00000133216.16 . BCM GRCh38.p13 chr1 22906783 22906783 + G G A Silent SNP ENST00000400191.7 exon11 c.G1962A p.T654T exonic ENSG00000133216.16 . synonymous SNV ENSG00000133216.16:ENST00000400191.7:exon11:c.G1962A:p.T654T 1p36.12 C3L-01885 2.473e-05 0 0 0.0001 0 3e-05 0 0 rs749583000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPHB2 287 0 222 66 0.229166666666667 TRUE NA +ENSG00000117525.14 . BCM GRCh38.p13 chr1 94532343 94532343 + G G A Silent SNP ENST00000334047.12 exon5 c.C729T p.G243G exonic ENSG00000117525.14 . synonymous SNV ENSG00000117525.14:ENST00000334047.12:exon5:c.C729T:p.G243G 1p21.3 C3L-01885 1.649e-05 0 0 0 0 3.001e-05 0 0 rs769591046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F3 163 0 141 46 0.245989304812834 TRUE NA +ENSG00000188177.14 . BCM GRCh38.p13 chr2 112324431 112324431 + A A G Silent SNP ENST00000409871.6 exon10 c.A1620G p.T540T exonic ENSG00000188177.14 . synonymous SNV ENSG00000188177.14:ENST00000409871.6:exon10:c.A1620G:p.T540T 2q14.1 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZC3H6 303 0 266 41 0.133550488599349 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178777493 178777493 + A A G Silent SNP ENST00000591111.5 exon26 c.T4572C p.D1524D exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon26:c.T4572C:p.D1524D 2q31.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 335 0 242 77 0.241379310344828 TRUE TRUE +ENSG00000206561.13 . BCM GRCh38.p13 chr3 15455990 15455990 + A A G Silent SNP ENST00000383788.10 exon15 c.T1104C p.T368T exonic ENSG00000206561.13 . synonymous SNV ENSG00000206561.13:ENST00000383788.10:exon15:c.T1104C:p.T368T 3p25.1 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COLQ 491 1 262 89 0.253561253561254 TRUE TRUE +ENSG00000113595.15 . BCM GRCh38.p13 chr5 65618157 65618157 + G G T Silent SNP ENST00000231524.14 exon2 c.C180A p.L60L exonic ENSG00000113595.15 . synonymous SNV ENSG00000113595.15:ENST00000231524.14:exon2:c.C180A:p.L60L 5q12.3 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM23 252 0 168 84 0.333333333333333 TRUE TRUE +ENSG00000124564.17 . BCM GRCh38.p13 chr6 25845493 25845493 + A A G Silent SNP ENST00000360657.7 exon11 c.T1152C p.N384N exonic ENSG00000124564.17 . synonymous SNV ENSG00000124564.17:ENST00000360657.7:exon11:c.T1152C:p.N384N 6p22.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC17A3 376 0 246 67 0.21405750798722 TRUE TRUE +ENSG00000240694.9 . BCM GRCh38.p13 chr8 26508369 26508369 + C C A Silent SNP ENST00000522362.7 exon3 c.G387T p.V129V exonic ENSG00000240694.9 . synonymous SNV ENSG00000240694.9:ENST00000522362.7:exon3:c.G387T:p.V129V 8p21.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PNMA2 131 0 85 32 0.273504273504274 TRUE TRUE +ENSG00000165119.21 . BCM GRCh38.p13 chr9 83977713 83977713 + T T C Silent SNP ENST00000351839.7 exon3 c.A132G p.E44E exonic ENSG00000165119.21 . synonymous SNV ENSG00000165119.21:ENST00000351839.7:exon3:c.A132G:p.E44E 9q21.32 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HNRNPK 196 0 115 35 0.233333333333333 TRUE TRUE +ENSG00000167346.7 . BCM GRCh38.p13 chr11 4989854 4989854 + C C T Silent SNP ENST00000380390.5 exon3 c.C306T p.H102H exonic ENSG00000167346.7 . synonymous SNV ENSG00000167346.7:ENST00000380390.5:exon3:c.C306T:p.H102H 11p15.4 C3L-01885 2.568e-05 0.0001 0 0.0002 0 0 0 0 rs369075049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP26 147 0 142 9 0.0596026490066225 TRUE NA +ENSG00000139697.14 . BCM GRCh38.p13 chr12 123313696 123313696 + A A G Silent SNP ENST00000602398.3 exon24 c.T3144C p.I1048I exonic ENSG00000139697.14 . synonymous SNV ENSG00000139697.14:ENST00000602398.3:exon24:c.T3144C:p.I1048I 12q24.31 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SBNO1 146 0 100 29 0.224806201550388 TRUE TRUE +ENSG00000150990.8 . BCM GRCh38.p13 chr12 124964603 124964603 + C C G Silent SNP ENST00000308736.7 exon15 c.G1836C p.G612G exonic ENSG00000150990.8 . synonymous SNV ENSG00000150990.8:ENST00000308736.7:exon15:c.G1836C:p.G612G 12q24.31 C3L-01885 . . . . . . . . . 4.10 . . . . D D . . D . T T . 0.141 0.167 0.552 . . . T T D . 0.281 4.062 0.896 N N -0.401 1.380 -0.506 1.192 0.000 0.707 0.702 0.725 0.636 . 5.170 -1.670 -0.508 -0.791 0.599 0.216 0.004 0.028 940 . . . . DHX37 115 0 91 25 0.21551724137931 TRUE TRUE +ENSG00000136158.12 . BCM GRCh38.p13 chr13 80336932 80336932 + G G T Silent SNP ENST00000377104.4 exon2 c.C774A p.V258V exonic ENSG00000136158.12 . synonymous SNV ENSG00000136158.12:ENST00000377104.4:exon2:c.C774A:p.V258V 13q31.1 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPRY2 656 0 451 134 0.229059829059829 TRUE TRUE +ENSG00000197943.10 . BCM GRCh38.p13 chr16 81895838 81895838 + G G A Silent SNP ENST00000564138.6 exon13 c.G1104A p.P368P exonic ENSG00000197943.10 . synonymous SNV ENSG00000197943.10:ENST00000564138.6:exon13:c.G1104A:p.P368P 16q23.3 C3L-01885 1.656e-05 0 8.639e-05 0 0 1.498e-05 0 0 rs769107090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63872356;OCCURENCE=1(stomach) PLCG2 199 0 176 14 0.0736842105263158 TRUE TRUE +ENSG00000185722.18 . BCM GRCh38.p13 chr17 4242408 4242408 + C C T Silent SNP ENST00000341657.9 exon2 c.G51A p.R17R exonic ENSG00000185722.18 . synonymous SNV ENSG00000185722.18:ENST00000341657.9:exon2:c.G51A:p.R17R 17p13.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKFY1 57 1 70 4 0.0540540540540541 TRUE NA +ENSG00000007202.15 . BCM GRCh38.p13 chr17 28623793 28623793 + G G T Silent SNP ENST00000528896.7 exon26 c.C4926A p.P1642P exonic ENSG00000007202.15 . synonymous SNV ENSG00000007202.15:ENST00000528896.7:exon26:c.C4926A:p.P1642P 17q11.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA0100 241 0 178 48 0.212389380530973 TRUE TRUE +ENSG00000108244.17 . BCM GRCh38.p13 chr17 40931384 40931384 + G G A Silent SNP ENST00000209718.8 exon3 c.C468T p.D156D exonic ENSG00000108244.17 . synonymous SNV ENSG00000108244.17:ENST00000209718.8:exon3:c.C468T:p.D156D 17q21.2 C3L-01885 8.24e-06 9.61e-05 0 0 0 0 0 0 rs766813414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT23 164 0 157 10 0.0598802395209581 TRUE NA +ENSG00000141338.14 . BCM GRCh38.p13 chr17 68929207 68929207 + A A G Silent SNP ENST00000586539.6 exon9 c.T967C p.L323L exonic ENSG00000141338.14 . synonymous SNV ENSG00000141338.14:ENST00000586539.6:exon9:c.T967C:p.L323L 17q24.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCA8 64 0 47 13 0.216666666666667 TRUE TRUE +ENSG00000101365.21 . BCM GRCh38.p13 chr20 2663666 2663666 + C C T Silent SNP ENST00000380843.9 exon3 c.G210A p.V70V exonic ENSG00000101365.21 . synonymous SNV ENSG00000101365.21:ENST00000380843.9:exon3:c.G210A:p.V70V 20p13 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IDH3B 664 0 406 89 0.17979797979798 TRUE TRUE +ENSG00000101916.12 . BCM GRCh38.p13 chrX 12921500 12921500 + A A G Silent SNP ENST00000218032.7 exon2 c.A2460G p.T820T exonic ENSG00000101916.12 . synonymous SNV ENSG00000101916.12:ENST00000218032.7:exon2:c.A2460G:p.T820T Xp22.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLR8 146 0 61 50 0.45045045045045 TRUE TRUE +ENSG00000188408.5 . BCM GRCh38.p13 chrX 26217535 26217535 + T T C Silent SNP ENST00000602297.1 exon2 c.T234C p.F78F exonic ENSG00000188408.5 . synonymous SNV ENSG00000188408.5:ENST00000602297.1:exon2:c.T234C:p.F78F Xp21.3 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEB5 112 0 99 6 0.0571428571428571 TRUE TRUE +ENSG00000011009.11 . BCM GRCh38.p13 chr1 23794342 23794342 + - NA C Intron SNP NA NA NA NA intronic ENSG00000011009.11 . . . 1p36.11 C3L-01885 0.0001 0.0001 0.0002 0.0001 0 0.0001 0 0.0001 rs757157645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LYPLA2 NA NA NA NA NA NA NA +ENSG00000120885.22 . BCM GRCh38.p13 chr8 27597576 27597576 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000120885.22 ENST00000316403.15:c.*665C>T . . 8p21.1 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLU 424 0 332 86 0.205741626794258 TRUE NA +ENSG00000177335.11 . BCM GRCh38.p13 chr8 143043218 143043218 + A A C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000177335.11 . . . 8q24.3 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C8orf31 112 0 101 19 0.158333333333333 TRUE NA +ENSG00000137106.18 . BCM GRCh38.p13 chr9 37431013 37431013 + T T C Intron SNP NA NA NA NA intronic ENSG00000137106.18 . . . 9p13.2 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRHPR 187 0 122 43 0.260606060606061 TRUE NA +ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499837 65499837 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 139 0 110 29 0.20863309352518 TRUE NA +ENSG00000139173.10 . BCM GRCh38.p13 chr12 44376440 44376440 + A A C Intron SNP NA NA NA NA intronic ENSG00000139173.10 . . . 12q12 C3L-01885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM117 91 0 86 10 0.104166666666667 TRUE NA +ENSG00000162490.7 . BCM GRCh38.p13 chr1 11711898 11711898 + G G T Missense_Mutation SNP ENST00000294485.6 exon4 c.G690T p.M230I exonic ENSG00000162490.7 . nonsynonymous SNV ENSG00000162490.7:ENST00000294485.6:exon4:c.G690T:p.M230I 1p36.22 C3N-00148 . . . . . . . . . 16.20 D D D D D D M T D 0.877 T T D 0.481 0.303 0.766 0.907 T D D D D D 4.044 27.300 0.998 D D 0.914 11.408 0.897 13.623 1.000 0.732 0.555 0.744 0.568 . 5.700 5.700 8.596 1.163 0.676 1.000 1.000 0.984 884 . . . . DRAXIN 217 0 167 42 0.200956937799043 TRUE TRUE +ENSG00000142632.17 . BCM GRCh38.p13 chr1 16206205 16206205 + G G A Missense_Mutation SNP ENST00000270747.8 exon7 c.C1273T p.P425S exonic ENSG00000142632.17 . nonsynonymous SNV ENSG00000142632.17:ENST00000270747.8:exon7:c.C1273T:p.P425S 1p36.13 C3N-00148 . . . . . . . . . 5.20 T T B B D D N T D 0.135 T T T 0.117 0.487 0.615 0.888 T T T T D T 2.652 22.700 0.920 D N -0.306 1.599 -0.097 2.056 1.000 0.493 0.587 0.522 0.665 . 4.850 3.920 2.244 1.079 0.672 0.953 1.000 0.995 199 Dbl_homology_(DH)_domain . . . ARHGEF19 83 0 62 23 0.270588235294118 TRUE TRUE +ENSG00000060642.11 . BCM GRCh38.p13 chr1 26794303 26794303 + G G T Missense_Mutation SNP ENST00000674202.1 exon3 c.G269T p.G90V exonic ENSG00000060642.11 . nonsynonymous SNV ENSG00000060642.11:ENST00000674202.1:exon3:c.G269T:p.G90V 1p36.11 C3N-00148 . . . . . . . . . 12.19 T T P P D D M D N 0.570 D D D 0.614 0.716 0.964 0.225 T T D D D D 3.175 23.800 0.994 D . 0.751 7.893 0.736 8.473 1.000 0.732 0.725 0.744 0.636 . 5.780 5.780 5.451 1.176 0.674 1.000 0.996 0.987 379 . . . ID=COSV50290595;OCCURENCE=1(kidney) PIGV 221 1 136 42 0.235955056179775 TRUE TRUE +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39293476 39293476 + A A T Missense_Mutation SNP ENST00000372915.7 exon17 c.A2026T p.M676L exonic ENSG00000127603.29 . nonsynonymous SNV ENSG00000127603.29:ENST00000372915.7:exon17:c.A2026T:p.M676L 1p34.3 C3N-00148 . . . . . . . . . 3.16 T T . . . D . D N 0.458 T T T 0.243 0.369 0.687 . T T T T T T 2.069 19.780 0.900 D N -0.427 1.324 -0.129 1.965 1.000 0.719 0.723 0.725 0.714 . 5.870 4.700 1.977 1.312 0.756 0.983 1.000 0.998 702 . . . . MACF1 77 0 39 16 0.290909090909091 TRUE TRUE +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39332614 39332638 + GGCATCAAAGGCAAAAAACTCCTGA GGCATCAAAGGCAAAAAACTCCTGA - Frame_Shift_Del DEL ENST00000372915.7 exon36 c.6041_6065del p.H2015Dfs*8 exonic ENSG00000127603.29 . frameshift deletion ENSG00000127603.29:ENST00000372915.7:exon36:c.6041_6065del:p.H2015Dfs*8 1p34.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MACF1 280 0 161 27 0.143617021276596 TRUE NA +ENSG00000132781.18 . BCM GRCh38.p13 chr1 45331234 45331234 + C C G Missense_Mutation SNP ENST00000672818.1 exon14 c.G1415C p.W472S exonic ENSG00000132781.18;ENSG00000288208.1 . nonsynonymous SNV ENSG00000132781.18:ENST00000672818.1:exon14:c.G1415C:p.W472S,ENSG00000288208.1:ENST00000671898.1:exon18:c.G1928C:p.W643S 1p34.1 C3N-00148 . . . . . . . . . 19.20 D D D D D D M D D 0.952 D D D 0.931 0.897 0.983 0.703 T D D D D D 3.680 25.300 0.985 D D 0.830 9.398 0.704 7.823 1.000 0.707 0.725 0.725 0.636 . 5.160 5.160 7.312 1.022 0.596 1.000 0.983 0.277 140 MutY,_C-terminal;NUDIX_hydrolase_domain . . . MUTYH 411 0 304 93 0.234256926952141 TRUE TRUE +ENSG00000240038.6 . BCM GRCh38.p13 chr1 103571652 103571652 + A A G Missense_Mutation SNP ENST00000361355.8 exon3 c.A50G p.Y17C exonic ENSG00000240038.6 . nonsynonymous SNV ENSG00000240038.6:ENST00000361355.8:exon3:c.A50G:p.Y17C 1p21.1 C3N-00148 . . . . . . . . . 12.19 D T D P D D M . D 0.792 T T T 0.311 0.372 0.715 0.585 T D D T D D 3.881 26.200 0.997 D D 0.600 5.927 0.551 5.663 0.003 0.706 0.710 0.618 0.564 . 4.800 4.800 5.647 1.200 0.691 1.000 0.855 0.988 798 . . . . AMY2B 333 0 213 52 0.19622641509434 NA TRUE +ENSG00000064703.12 . BCM GRCh38.p13 chr1 111761031 111761031 + C C T Missense_Mutation SNP ENST00000369702.5 exon6 c.C868T p.H290Y exonic ENSG00000064703.12 . nonsynonymous SNV ENSG00000064703.12:ENST00000369702.5:exon6:c.C868T:p.H290Y 1p13.2 C3N-00148 . . . . . . . . . 6.20 T T B B D D L T D 0.323 T T T 0.071 0.287 0.647 0.095 T T T T D T 2.633 22.700 0.970 D D -0.088 2.212 0.086 2.679 1.000 0.722 0.725 0.725 0.735 . 5.590 4.680 5.756 1.026 0.599 1.000 0.989 0.978 885 Helicase,_C-terminal . . . DDX20 109 0 55 14 0.202898550724638 TRUE TRUE +ENSG00000163125.15 . BCM GRCh38.p13 chr1 150472337 150472337 + A A G Missense_Mutation SNP ENST00000369068.4 exon11 c.A3389G p.D1130G exonic ENSG00000163125.15 . nonsynonymous SNV ENSG00000163125.15:ENST00000369068.4:exon11:c.A3389G:p.D1130G 1q21.2 C3N-00148 . . . . . . . . . 5.19 D T B B N D N T N 0.272 T T T 0.086 0.300 0.129 0.369 T T T T D D 3.192 23.800 0.990 D . 0.066 2.753 0.226 3.312 1.000 0.722 0.702 0.699 0.714 . 4.870 4.870 5.965 1.207 0.756 1.000 1.000 0.999 99 . . . . RPRD2 331 0 227 61 0.211805555555556 TRUE TRUE +ENSG00000177628.16 . BCM GRCh38.p13 chr1 155235757 155235757 + C C T Missense_Mutation SNP ENST00000368373.8 exon9 c.G1312A p.D438N exonic ENSG00000177628.16 . nonsynonymous SNV ENSG00000177628.16:ENST00000368373.8:exon9:c.G1312A:p.D438N 1q22 C3N-00148 . . . . . . . . . 17.20 T T D D D D M D D 0.982 D D D 0.805 0.863 0.992 1.756 T D D D D D 4.066 27.500 0.999 D D 0.714 7.321 0.614 6.398 1.000 0.707 0.725 0.702 0.714 . 4.950 4.950 7.172 1.026 0.594 1.000 0.620 0.054 42 Glycosyl_hydrolase_family_30,_TIM-barrel_domain . . . GBA 528 0 482 53 0.0990654205607477 TRUE TRUE +ENSG00000132676.16 . BCM GRCh38.p13 chr1 155729334 155729334 + A A G Missense_Mutation SNP ENST00000368336.10 exon9 c.A811G p.R271G exonic ENSG00000132676.16 . nonsynonymous SNV ENSG00000132676.16:ENST00000368336.10:exon9:c.A811G:p.R271G 1q22 C3N-00148 . . . . . . . . . 11.20 D D B B D D M T D 0.723 T T D 0.205 0.593 0.446 0.154 T T T T D D 3.218 23.900 0.996 D D 0.292 3.739 0.310 3.775 1.000 0.707 0.725 0.780 0.636 . 5.510 5.510 1.612 1.307 0.751 0.833 0.998 0.969 68 . . . . DAP3 129 0 75 31 0.292452830188679 TRUE TRUE +ENSG00000116584.20 . BCM GRCh38.p13 chr1 155952212 155952212 + C C A Missense_Mutation SNP ENST00000361247.9 exon16 c.G2008T p.V670L exonic ENSG00000116584.20 . nonsynonymous SNV ENSG00000116584.20:ENST00000361247.9:exon16:c.G2008T:p.V670L 1q22 C3N-00148 . . . . . . . . . 1.20 T T B B N N N T N 0.179 T T T 0.046 0.312 0.386 0.944 T T T T T T 1.260 14.100 0.973 D N -0.457 1.263 -0.232 1.712 1.000 0.707 0.698 0.702 0.714 . 5.390 4.460 0.509 0.074 0.599 0.918 0.882 0.946 112 . . . . ARHGEF2 214 0 201 58 0.223938223938224 TRUE TRUE +ENSG00000120332.16 . BCM GRCh38.p13 chr1 175094020 175094020 + A A T Missense_Mutation SNP ENST00000239462.9 exon7 c.A1355T p.D452V exonic ENSG00000120332.16 . nonsynonymous SNV ENSG00000120332.16:ENST00000239462.9:exon7:c.A1355T:p.D452V 1q25.1 C3N-00148 . . . . . . . . . 5.20 D T B B N N L T D 0.438 T T D 0.174 0.429 0.759 0.388 T T T T T D 2.043 19.580 0.792 D N -0.406 1.371 -0.378 1.412 0.010 0.554 0.590 0.602 0.613 . 5.400 5.400 2.741 1.312 0.756 0.818 0.542 0.459 660 Fibronectin_type_III . . . TNN 127 0 83 19 0.186274509803922 TRUE TRUE +ENSG00000162779.22 . BCM GRCh38.p13 chr1 179411163 179411163 + A A C Missense_Mutation SNP ENST00000367618.8 exon12 c.A1127C p.H376P exonic ENSG00000162779.22 . nonsynonymous SNV ENSG00000162779.22:ENST00000367618.8:exon12:c.A1127C:p.H376P 1q25.2 C3N-00148 . . . . . . . . . 11.20 D D D D D D M T D 0.638 T T T 0.253 0.687 0.698 0.212 T T D T D T 3.743 25.600 0.985 D N 0.555 5.495 0.516 5.306 0.000 0.554 0.588 0.547 0.564 . 5.180 4.050 2.418 1.183 0.691 1.000 0.998 0.974 545 . . . . AXDND1 124 0 73 18 0.197802197802198 TRUE TRUE +ENSG00000198626.17 . BCM GRCh38.p13 chr1 237270534 237270534 + A A G Missense_Mutation SNP ENST00000366574.7 exon2 c.A86G p.H29R exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon2:c.A86G:p.H29R 1q43 C3N-00148 2.252e-05 0 0 0 0 4.369e-05 0 0 rs780931894 11.18 T . P B . D N D N 0.392 D D D 0.582 0.524 0.886 0.460 T D D D T D 2.027 19.460 0.454 D D 0.056 2.717 0.139 2.899 0.025 0.554 0.574 0.618 0.564 . 3.920 3.920 5.247 1.312 0.677 1.000 0.998 0.939 976 Inositol_1,4,5-trisphosphate/ryanodine_receptor . . . RYR2 174 0 161 22 0.120218579234973 TRUE NA +ENSG00000196208.14 . BCM GRCh38.p13 chr2 11585244 11585244 + C C A Missense_Mutation SNP ENST00000381486.7 exon8 c.C985A p.P329T exonic ENSG00000196208.14 . nonsynonymous SNV ENSG00000196208.14:ENST00000381486.7:exon8:c.C985A:p.P329T 2p25.1 C3N-00148 . . . . . . . . . 0.20 T T B B N N L T N 0.140 T T T 0.050 0.158 0.072 0.449 T T T T T T 0.076 1.885 0.727 N N -1.433 0.104 -1.427 0.138 1.000 0.615 0.547 0.659 0.613 . 5.590 -5.220 -0.270 -0.832 0.589 0.000 0.016 0.576 921 . . . . GREB1 33 0 36 9 0.2 TRUE TRUE +ENSG00000136709.12 . BCM GRCh38.p13 chr2 127709533 127709533 + T T - Frame_Shift_Del DEL ENST00000322313.9 exon20 c.3522delA p.G1175Efs*106 exonic ENSG00000136709.12 . frameshift deletion ENSG00000136709.12:ENST00000322313.9:exon20:c.3522delA:p.G1175Efs*106 2q14.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR33 161 0 116 20 0.147058823529412 TRUE TRUE +ENSG00000162989.5 . BCM GRCh38.p13 chr2 154855161 154855161 + G G T Missense_Mutation SNP ENST00000295101.3 exon3 c.G1354T p.V452L exonic ENSG00000162989.5 . nonsynonymous SNV ENSG00000162989.5:ENST00000295101.3:exon3:c.G1354T:p.V452L 2q24.1 C3N-00148 . . . . . . . . . 4.19 T T B B N D N D N 0.058 T T T 0.313 0.187 0.441 0.833 T T T T D T 2.203 20.900 0.980 D . -0.003 2.499 0.242 3.397 0.984 0.487 0.574 0.574 0.564 . 5.950 5.950 5.636 1.176 0.676 1.000 0.985 0.996 815 . . . . KCNJ3 220 0 186 32 0.146788990825688 TRUE TRUE +ENSG00000144283.21 . BCM GRCh38.p13 chr2 158662983 158662983 + C C G Missense_Mutation SNP ENST00000389759.7 exon14 c.C2298G p.N766K exonic ENSG00000144283.21 . nonsynonymous SNV ENSG00000144283.21:ENST00000389759.7:exon14:c.C2298G:p.N766K 2q24.1 C3N-00148 . . . . . . . . . 3.20 D T P B N D L T N 0.547 T T T 0.302 0.400 0.472 0.220 T T T T T D -0.110 0.790 0.963 N N -0.999 0.405 -1.012 0.474 0.987 0.732 0.710 0.744 0.714 . 5.810 -5.360 -0.594 1.026 0.549 0.159 0.997 0.995 797 . . . . PKP4 139 0 111 21 0.159090909090909 TRUE TRUE +ENSG00000175084.12 . BCM GRCh38.p13 chr2 219421459 219421459 + G G - Frame_Shift_Del DEL ENST00000373960.4 exon6 c.1143delG p.A382Pfs*13 exonic ENSG00000175084.12 . frameshift deletion ENSG00000175084.12:ENST00000373960.4:exon6:c.1143delG:p.A382Pfs*13 2q35 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DES 393 0 246 62 0.201298701298701 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146523 10146523 + G G A Nonsense_Mutation SNP ENST00000256474.3 exon2 c.G350A p.W117X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon2:c.G350A:p.W117X 3p25.3 C3N-00148 . . . . . . . . . 5.6 . . . . D D . . . 0.931 . . . . . . . . . D D . . 9.358 49 0.992 D N 0.812 9.011 0.651 6.929 1.000 0.732 0.686 0.744 0.735 . 5.070 5.070 7.677 1.176 0.676 1.000 1.000 0.998 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56542825;OCCURENCE=10(kidney) VHL 435 0 234 87 0.271028037383178 TRUE TRUE +ENSG00000154743.18 . BCM GRCh38.p13 chr3 12503471 12503471 + T T G Missense_Mutation SNP ENST00000284995.11 exon5 c.T518G p.V173G exonic ENSG00000154743.18 . nonsynonymous SNV ENSG00000154743.18:ENST00000284995.11:exon5:c.T518G:p.V173G 3p25.2 C3N-00148 . . . . . . . . . 1.20 D T B B N N N T N 0.172 T T T 0.066 0.163 0.196 0.035 T T T T T T 0.741 8.828 0.742 N N -1.240 0.200 -1.330 0.190 1.000 0.707 0.725 0.725 0.714 . 4.720 -5.230 -0.930 -0.584 0.644 0.000 0.000 0.120 787 . . . . TSEN2 196 0 105 27 0.204545454545455 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609552 52609552 + C C - Frame_Shift_Del DEL ENST00000296302.11 exon16 c.2328delG p.L776Ffs*2 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon16:c.2328delG:p.L776Ffs*2 3p21.1 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 147 0 72 24 0.25 TRUE TRUE +ENSG00000138468.16 . BCM GRCh38.p13 chr3 101343909 101343909 + G G T Nonsense_Mutation SNP ENST00000394095.7 exon14 c.C1883A p.S628X exonic ENSG00000138468.16 . stopgain ENSG00000138468.16:ENST00000394095.7:exon14:c.C1883A:p.S628X 3q12.3 C3N-00148 . . . . . . . . . 4.6 . . . . N A . . . 0.422 . . . . . . . . . D D . . 7.641 38 0.996 D N 0.809 8.955 0.676 7.323 0.604 0.615 0.634 0.618 0.636 . 5.000 5.000 3.868 1.176 0.676 1.000 1.000 0.998 275 . . . . SENP7 104 0 50 4 0.0740740740740741 NA TRUE +ENSG00000144893.12 . BCM GRCh38.p13 chr3 151383805 151383805 + G G T Missense_Mutation SNP ENST00000474524.5 exon32 c.G4602T p.Q1534H exonic ENSG00000144893.12 . nonsynonymous SNV ENSG00000144893.12:ENST00000474524.5:exon32:c.G4602T:p.Q1534H 3q25.1 C3N-00148 . . . . . . . . . 16.20 D D D D D D M T D 0.882 T T D 0.283 0.290 0.227 0.589 D T D D D D 3.412 24.400 0.998 D D 0.639 6.351 0.639 6.742 1.000 0.615 0.476 0.659 0.564 . 5.910 5.020 1.510 1.176 0.676 1.000 0.997 0.972 867 . . . . MED12L 171 1 123 16 0.115107913669065 TRUE TRUE +ENSG00000182447.4 . BCM GRCh38.p13 chr3 161496952 161496952 + G G T Missense_Mutation SNP ENST00000327928.4 exon1 c.G145T p.G49C exonic ENSG00000182447.4 . nonsynonymous SNV ENSG00000182447.4:ENST00000327928.4:exon1:c.G145T:p.G49C 3q26.1 C3N-00148 . . . . . . . . . 7.20 D D D P N N M D N 0.273 T D D 0.280 0.475 0.427 0.022 T T T T T T 2.611 22.700 0.994 N N -0.151 2.020 -0.287 1.592 0.000 0.487 0.574 0.574 0.564 . 5.660 2.860 0.954 1.176 0.676 0.001 0.731 0.066 865 . . . . OTOL1 312 0 229 43 0.158088235294118 TRUE TRUE +ENSG00000155011.9 . BCM GRCh38.p13 chr4 106925925 106925925 + C C A Nonsense_Mutation SNP ENST00000285311.8 exon2 c.G247T p.E83X exonic ENSG00000155011.9 . stopgain ENSG00000155011.9:ENST00000285311.8:exon2:c.G247T:p.E83X 4q25 C3N-00148 . . . . . . . . . 5.6 . . . . D D . . . 0.808 . . . . . . . . . D D . . 7.657 39 0.998 D N 1.174 21.606 1.038 21.421 1.000 0.554 0.574 0.618 0.564 . 5.620 5.620 7.461 1.026 0.549 1.000 0.997 0.994 856 Dickkopf,_N-terminal_cysteine-rich . . . DKK2 118 1 94 14 0.12962962962963 TRUE TRUE +ENSG00000113492.14 . BCM GRCh38.p13 chr5 35040613 35040613 + T T C Missense_Mutation SNP ENST00000231420.11 exon2 c.A139G p.R47G exonic ENSG00000113492.14 . nonsynonymous SNV ENSG00000113492.14:ENST00000231420.11:exon2:c.A139G:p.R47G 5p13.2 C3N-00148 . . . . . . . . . 3.20 T T B B N N L D N 0.211 T T D 0.116 0.385 0.741 0.096 T T T T T T 2.374 22.000 0.950 D N -0.499 1.179 -0.396 1.380 1.000 0.487 0.574 0.547 0.542 . 5.310 4.140 2.039 1.138 0.665 0.980 0.529 0.474 770 . . . ID=COSV51491132;OCCURENCE=1(NS) AGXT2 561 1 462 103 0.182300884955752 TRUE TRUE +ENSG00000151422.13 . BCM GRCh38.p13 chr5 109180841 109180841 + T T G Missense_Mutation SNP ENST00000281092.9 exon18 c.T2143G p.S715A exonic ENSG00000151422.13 . nonsynonymous SNV ENSG00000151422.13:ENST00000281092.9:exon18:c.T2143G:p.S715A 5q21.3 C3N-00148 . . . . . . . . . 10.20 T T D D D D N D N 0.564 T D D 0.426 0.411 0.770 0.652 T T T T D T 2.988 23.400 0.993 D D 0.477 4.860 0.538 5.526 1.000 0.638 0.634 0.653 0.668 . 5.630 5.630 8.014 1.138 0.665 1.000 1.000 0.996 616 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . FER 208 0 156 18 0.103448275862069 TRUE TRUE +ENSG00000120733.14 . BCM GRCh38.p13 chr5 138398258 138398258 + T T A Missense_Mutation SNP ENST00000314358.10 exon10 c.T2912A p.L971Q exonic ENSG00000120733.14 . nonsynonymous SNV ENSG00000120733.14:ENST00000314358.10:exon10:c.T2912A:p.L971Q 5q31.2 C3N-00148 . . . . . . . . . 17.20 D D D D D D M T D 0.922 D D D 0.810 0.452 0.799 1.575 T T D D D D 4.213 28.800 0.996 D D 0.780 8.407 0.744 8.658 1.000 0.719 0.723 0.725 0.714 . 5.220 5.220 8.017 1.138 0.665 1.000 1.000 0.998 396 . . . . KDM3B 212 0 202 34 0.144067796610169 TRUE TRUE +ENSG00000204965.9 . BCM GRCh38.p13 chr5 140821991 140821991 + C C A Missense_Mutation SNP ENST00000529859.2 exon1 c.C216A p.D72E exonic ENSG00000204965.9 . nonsynonymous SNV ENSG00000204965.9:ENST00000529859.2:exon1:c.C216A:p.D72E 5q31.3 C3N-00148 . . . . . . . . . 2.18 T T B B . D N T D 0.078 T T T 0.050 0.383 0.343 0.315 . T T T T T 1.692 16.970 0.981 N N -0.592 1.002 -0.523 1.164 0.289 0.517 0.574 0.479 0.584 . 3.970 2.070 -0.912 1.005 0.544 0.000 0.995 0.956 28 Cadherin-like;Cadherin,_N-terminal . . . PCDHA5 711 0 649 123 0.159326424870466 NA TRUE +ENSG00000254221.2 . BCM GRCh38.p13 chr5 141352035 141352035 + C C T Missense_Mutation SNP ENST00000523390.1 exon1 c.C1775T p.A592V exonic ENSG00000254221.2 . nonsynonymous SNV ENSG00000254221.2:ENST00000523390.1:exon1:c.C1775T:p.A592V 5q31.3 C3N-00148 . . . . . . . . . 7.18 T T D D . D M T D 0.412 T T T 0.342 0.556 0.556 1.131 . T T T D T 3.487 24.700 0.999 D N 0.495 4.997 0.443 4.682 0.397 0.615 0.588 0.659 0.616 . 5.530 4.640 1.218 1.026 0.530 0.751 0.970 0.967 696 Cadherin-like . . . PCDHGB1 290 0 181 84 0.316981132075472 NA TRUE +ENSG00000070614.15 . BCM GRCh38.p13 chr5 150527891 150527891 + A A - Frame_Shift_Del DEL ENST00000261797.7 exon3 c.601delA p.N201Tfs*9 exonic ENSG00000070614.15 . frameshift deletion ENSG00000070614.15:ENST00000261797.7:exon3:c.601delA:p.N201Tfs*9 5q33.1 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDST1 145 0 124 33 0.210191082802548 TRUE TRUE +ENSG00000234511.10 . BCM GRCh38.p13 chr5 170234981 170234981 + G G A Missense_Mutation SNP ENST00000593851.5 exon3 c.G5A p.G2D exonic ENSG00000234511.10 . nonsynonymous SNV ENSG00000234511.10:ENST00000593851.5:exon3:c.G5A:p.G2D 5q35.1 C3N-00148 . . . . . . . . . 0.10 . . . . . N . . . . T T T 0.045 . 0.030 . . . T T T T 0.193 3.046 0.894 N N -1.087 0.318 -1.047 0.432 0.073 0.428 0.547 0.547 0.613 . 5.870 -1.100 0.017 -0.147 -0.140 0.752 0.033 0.031 796 . . . . C5orf58 54 0 36 3 0.0769230769230769 TRUE NA +ENSG00000131446.16 . BCM GRCh38.p13 chr5 180791887 180791887 + A A G Missense_Mutation SNP ENST00000333055.8 exon3 c.T1085C p.V362A exonic ENSG00000131446.16 . nonsynonymous SNV ENSG00000131446.16:ENST00000333055.8:exon3:c.T1085C:p.V362A 5q35.3 C3N-00148 . . . . . . . . . 18.20 D D D D D D M D D 0.884 D D D 0.851 0.908 0.849 1.991 T D D D D T 2.964 23.300 0.994 D D 0.703 7.163 0.580 5.983 1.000 0.707 0.702 0.725 0.711 . 4.740 4.740 8.145 1.207 0.756 1.000 0.103 0.019 884 . . . . MGAT1 339 0 252 143 0.362025316455696 TRUE NA +ENSG00000165810.17 . BCM GRCh38.p13 chr5 181058356 181058356 + G G A Nonsense_Mutation SNP ENST00000327705.14 exon10 c.G960A p.W320X exonic ENSG00000165810.17 . stopgain ENSG00000165810.17:ENST00000327705.14:exon10:c.G960A:p.W320X 5q35.3 C3N-00148 . . . . . . . . . 4.6 . . . . N D . . . 0.171 . . . . . . . . . D D . . 8.612 44 0.997 D N 0.813 9.032 0.687 7.512 1.000 0.598 0.627 0.596 0.616 . 5.200 5.200 2.897 1.136 0.661 1.000 1.000 0.996 . 0.000 . . . BTNL9 279 0 266 46 0.147435897435897 TRUE TRUE +ENSG00000204576.12 . BCM GRCh38.p13 chr6 30562041 30562041 + A A C Missense_Mutation SNP ENST00000376560.8 exon3 c.A377C p.E126A exonic ENSG00000204576.12 . nonsynonymous SNV ENSG00000204576.12:ENST00000376560.8:exon3:c.A377C:p.E126A 6p21.33 C3N-00148 . . . . . . . . . 5.19 D T D P D N L T N 0.377 T T T 0.167 0.119 0.391 0.666 T T T T D . 3.049 23.500 0.994 D N 0.201 3.309 0.278 3.591 1.000 0.672 0.698 0.702 0.636 . 5.060 3.900 2.497 1.207 0.756 1.000 0.999 0.997 809 . . . . PRR3 131 0 97 25 0.204918032786885 TRUE TRUE +ENSG00000112079.9 . BCM GRCh38.p13 chr6 36507566 36507566 + C C T Missense_Mutation SNP ENST00000229812.8 exon8 c.G706A p.G236R exonic ENSG00000112079.9 . nonsynonymous SNV ENSG00000112079.9:ENST00000229812.8:exon8:c.G706A:p.G236R 6p21.31 C3N-00148 . . . . . . . . . 14.20 D T D D D D N T D 0.777 T T D 0.611 0.567 0.797 1.568 D T D D D D 4.053 27.400 0.999 D D 0.554 5.484 0.651 6.921 1.000 0.732 0.744 0.659 0.613 . 5.660 5.660 7.896 1.026 0.549 1.000 1.000 0.996 450 Protein_kinase_domain . . . STK38 179 1 114 18 0.136363636363636 TRUE TRUE +ENSG00000135318.12 . BCM GRCh38.p13 chr6 85450297 85450297 + A A G Missense_Mutation SNP ENST00000257770.8 exon1 c.A158G p.N53S exonic ENSG00000135318.12 . nonsynonymous SNV ENSG00000135318.12:ENST00000257770.8:exon1:c.A158G:p.N53S 6q14.3 C3N-00148 4.319e-05 0.0005 0 0 0 0 0 0 rs374757389 1.20 T T B B N N N T N 0.077 T T D 0.057 . 0.351 0.138 T T T T T T 1.994 19.210 0.675 N N -0.855 0.579 -0.721 0.869 1.000 0.564 0.522 0.504 0.562 . 4.130 1.540 0.305 1.128 0.658 0.000 0.999 0.866 511 Calcineurin-like_phosphoesterase_domain,_ApaH_type . . . NT5E 358 1 250 62 0.198717948717949 TRUE NA +ENSG00000188994.13 . BCM GRCh38.p13 chr6 87259961 87259961 + A A C Missense_Mutation SNP ENST00000369577.8 exon8 c.A6332C p.Y2111S exonic ENSG00000188994.13 . nonsynonymous SNV ENSG00000188994.13:ENST00000369577.8:exon8:c.A6332C:p.Y2111S 6q14.3 C3N-00148 . . . . . . . . . 14.20 D D D P D D M T D 0.840 T T D 0.337 0.532 0.486 . T T D D D D 3.979 26.800 0.991 D D 0.651 6.481 0.666 7.157 1.000 0.722 0.699 0.702 0.636 . 5.770 5.770 7.052 1.312 0.756 1.000 0.998 0.973 824 . . . . ZNF292 185 0 90 25 0.217391304347826 TRUE TRUE +ENSG00000164694.17 . BCM GRCh38.p13 chr6 159256523 159256523 + G G C Missense_Mutation SNP ENST00000297267.14 exon18 c.G5066C p.G1689A exonic ENSG00000164694.17 . nonsynonymous SNV ENSG00000164694.17:ENST00000297267.14:exon18:c.G5066C:p.G1689A 6q25.3 C3N-00148 . . . . . . . . . 15.20 D D D D D D M T D 0.787 T T D 0.479 0.641 0.857 0.708 T T D D D D 5.036 33 0.998 D D 0.838 9.559 0.824 10.884 1.000 0.554 0.574 0.574 0.621 . 5.480 5.480 9.638 1.176 0.618 1.000 0.335 0.931 828 Fibronectin_type_III . . . FNDC1 146 0 100 38 0.27536231884058 TRUE TRUE +ENSG00000173852.14 . BCM GRCh38.p13 chr7 35017937 35017937 + C C T Missense_Mutation SNP ENST00000310974.8 exon3 c.G137A p.R46H exonic ENSG00000173852.14 . nonsynonymous SNV ENSG00000173852.14:ENST00000310974.8:exon3:c.G137A:p.R46H 7p14.2 C3N-00148 4.155e-05 0 0 0 0 0 0 0.0003 rs762478422 13.20 D D D D U D M T D 0.771 T T D 0.388 0.560 0.666 0.692 D T T T D D 4.000 27.000 0.999 D D 0.384 4.248 0.375 4.184 1.000 0.706 0.547 0.710 0.613 . 5.170 4.290 7.376 -0.242 -0.238 1.000 0.988 0.987 732 . . . . DPY19L1 168 0 79 12 0.131868131868132 TRUE NA +ENSG00000002746.15 . BCM GRCh38.p13 chr7 43561918 43561918 + C C A Missense_Mutation SNP ENST00000395891.7 exon30 c.C4813A p.L1605I exonic ENSG00000002746.15 . nonsynonymous SNV ENSG00000002746.15:ENST00000395891.7:exon30:c.C4813A:p.L1605I 7p13 C3N-00148 . . . . . . . . . 6.20 T T P P D D N T N 0.445 T T T 0.216 0.532 0.364 1.218 T T T T D D 2.881 23.200 0.995 D D 0.578 5.711 0.667 7.172 1.000 0.615 0.563 0.659 0.530 . 5.930 5.930 7.889 1.026 0.549 1.000 1.000 0.998 814 HECT_domain . . ID=COSV67830746;OCCURENCE=1(breast) HECW1 167 0 149 20 0.118343195266272 TRUE TRUE +ENSG00000165171.11 . BCM GRCh38.p13 chr7 73834762 73834762 + C C G Missense_Mutation SNP ENST00000297873.9 exon6 c.G719C p.R240P exonic ENSG00000165171.11 . nonsynonymous SNV ENSG00000165171.11:ENST00000297873.9:exon6:c.G719C:p.R240P 7q11.23 C3N-00148 . . . . . . . . . 0.19 T T B B N N . T N 0.102 T T T 0.018 0.306 0.030 0.217 T T T T T T -0.344 0.252 0.717 N N -1.323 0.152 -1.384 0.160 1.000 0.696 0.634 0.723 0.700 . 4.670 -4.880 -3.282 -1.321 -0.892 0.000 0.000 0.000 934 . . . . METTL27 161 0 182 16 0.0808080808080808 NA TRUE +ENSG00000106302.10 . BCM GRCh38.p13 chr7 123877079 123877079 + G G A Missense_Mutation SNP ENST00000223026.9 exon5 c.G1370A p.G457E exonic ENSG00000106302.10 . nonsynonymous SNV ENSG00000106302.10:ENST00000223026.9:exon5:c.G1370A:p.G457E 7q31.32 C3N-00148 . . . . . . . . . 0.20 T T P B N N L T N 0.154 T T T 0.093 0.294 0.204 0.025 T T T T T T 1.115 12.920 0.953 N N -0.328 1.547 -0.441 1.300 0.000 0.487 0.574 0.574 0.526 . 5.860 2.920 0.250 0.189 0.676 0.000 0.007 0.098 843 . . . . HYAL4 157 0 122 75 0.380710659898477 TRUE TRUE +ENSG00000172724.12 . BCM GRCh38.p13 chr9 34691106 34691106 + G G C Missense_Mutation SNP ENST00000311925.7 exon1 c.C34G p.L12V exonic ENSG00000172724.12 . nonsynonymous SNV ENSG00000172724.12:ENST00000311925.7:exon1:c.C34G:p.L12V 9p13.3 C3N-00148 . . . . . . . . . 7.19 D D D D N N . T N 0.517 T T D 0.147 0.418 0.617 0.439 T T T T D T 3.632 25.200 0.988 D N 0.486 4.926 0.458 4.799 1.000 0.609 0.628 0.492 0.530 . 4.240 4.240 4.028 0.225 0.676 0.998 0.993 0.986 414 . . . . CCL19 116 1 79 16 0.168421052631579 TRUE TRUE +ENSG00000198722.14 . BCM GRCh38.p13 chr9 35310641 35310641 + A A T Missense_Mutation SNP ENST00000378495.7 exon9 c.A936T p.E312D exonic ENSG00000198722.14 . nonsynonymous SNV ENSG00000198722.14:ENST00000378495.7:exon9:c.A936T:p.E312D 9p13.3 C3N-00148 . . . . . . . . . 3.20 T T B B N D L D N 0.334 T T T 0.156 0.141 0.545 0.182 T T T T T T 1.424 15.240 0.990 D N -0.563 1.055 -0.415 1.346 0.004 0.706 0.574 0.710 0.714 . 5.770 2.120 1.974 1.312 0.756 1.000 0.987 0.696 137 . . . . UNC13B 422 1 310 29 0.0855457227138643 TRUE TRUE +ENSG00000198853.12 . BCM GRCh38.p13 chr9 35555582 35555582 + A A G Missense_Mutation SNP ENST00000455600.1 exon3 c.A2537G p.Y846C exonic ENSG00000198853.12 . nonsynonymous SNV ENSG00000198853.12:ENST00000455600.1:exon3:c.A2537G:p.Y846C 9p13.3 C3N-00148 . . . . . . . . . 7.20 D T D P N D L T N 0.849 T T T 0.174 0.245 0.249 0.778 T T T T D D 3.473 24.600 0.997 D D 0.474 4.843 0.476 4.948 1.000 0.707 0.588 0.659 0.714 . 4.150 4.150 4.736 1.312 0.756 1.000 0.999 0.997 200 . . . . RUSC2 234 0 155 12 0.0718562874251497 NA TRUE +ENSG00000130045.16 . BCM GRCh38.p13 chr9 88535735 88535735 + C C T Missense_Mutation SNP ENST00000375854.7 exon1 c.C301T p.H101Y exonic ENSG00000130045.16 . nonsynonymous SNV ENSG00000130045.16:ENST00000375854.7:exon1:c.C301T:p.H101Y 9q22.1 C3N-00148 . . . . . . . . . 6.18 D D P B N D . T N 0.282 T T . 0.379 0.400 0.763 0.840 T T T T D T 4.069 27.500 0.997 D D 0.692 7.014 0.495 5.116 1.000 0.652 0.563 0.641 0.555 . 3.950 3.950 2.329 0.887 0.469 1.000 0.991 0.921 814 Thioredoxin-like_fold . . . NXNL2 74 0 52 5 0.087719298245614 TRUE NA +ENSG00000085265.11 . BCM GRCh38.p13 chr9 134917825 134917825 + A A G Missense_Mutation SNP ENST00000371806.4 exon1 c.T47C p.L16P exonic ENSG00000085265.11 . nonsynonymous SNV ENSG00000085265.11:ENST00000371806.4:exon1:c.T47C:p.L16P 9q34.3 C3N-00148 . . . . . . . . . 6.19 T D B B . N M D D 0.491 T T D 0.459 0.500 0.681 0.196 T T D T T T 1.953 18.900 0.953 N N -0.534 1.110 -0.579 1.078 1.000 0.447 0.563 0.547 0.613 . 4.240 4.240 2.521 1.226 0.653 0.523 0.001 0.001 739 . . . . FCN1 187 0 120 25 0.172413793103448 TRUE TRUE +ENSG00000128815.19 . BCM GRCh38.p13 chr10 48964016 48964016 + C C A Missense_Mutation SNP ENST00000325239.11 exon54 c.C8398A p.L2800M exonic ENSG00000128815.19 . nonsynonymous SNV ENSG00000128815.19:ENST00000325239.11:exon54:c.C8398A:p.L2800M 10q11.23 C3N-00148 . . . . . . . . . 9.20 D D D D N D M T N 0.415 T T D 0.544 0.471 0.254 . T T T T D T 3.196 23.900 0.997 D N 0.136 3.030 0.157 2.979 0.001 0.706 0.725 0.574 0.613 . 5.530 3.680 0.194 1.026 0.597 0.940 1.000 0.983 970 BEACH_domain . . . WDFY4 385 0 327 25 0.0710227272727273 TRUE TRUE +ENSG00000122870.12 . BCM GRCh38.p13 chr10 58789698 58789698 + T T C Missense_Mutation SNP ENST00000373886.8 exon8 c.T812C p.L271P exonic ENSG00000122870.12 . nonsynonymous SNV ENSG00000122870.12:ENST00000373886.8:exon8:c.T812C:p.L271P 10q21.1 C3N-00148 . . . . . . . . . 17.20 D D D D D D M T D 0.976 T T D 0.799 0.724 0.764 1.036 D D D D D D 4.258 29.200 0.999 D D 0.833 9.463 0.820 10.751 1.000 0.554 0.574 0.618 0.564 . 5.880 5.880 7.908 1.138 0.665 1.000 1.000 0.998 981 . . . . BICC1 202 0 168 9 0.0508474576271186 TRUE TRUE +ENSG00000148700.15 . BCM GRCh38.p13 chr10 110100840 110100840 + C C T Nonsense_Mutation SNP ENST00000356080.9 exon2 c.C187T p.Q63X exonic ENSG00000148700.15 . stopgain ENSG00000148700.15:ENST00000356080.9:exon2:c.C187T:p.Q63X 10q25.2 C3N-00148 . . . . . . . . . 5.6 . . . . D A . . . 0.779 . . . . . . . . . D D . . 7.060 37 0.999 D N 1.158 20.559 1.038 21.408 1.000 0.706 0.710 0.659 0.613 . 6.060 6.060 6.010 1.026 0.599 1.000 1.000 0.998 958 . . . . ADD3 91 0 71 6 0.0779220779220779 TRUE TRUE +ENSG00000165813.20 . BCM GRCh38.p13 chr10 114131312 114131312 + C C T Missense_Mutation SNP ENST00000369287.8 exon12 c.G1936A p.E646K exonic ENSG00000165813.20 . nonsynonymous SNV ENSG00000165813.20:ENST00000369287.8:exon12:c.G1936A:p.E646K 10q25.3 C3N-00148 . . . . . . . . . 3.18 T T B B N N . T N 0.125 T T T 0.069 0.171 0.260 0.305 . T T T D D 1.835 17.990 0.821 D N 0.050 2.693 0.128 2.854 1.000 0.651 0.686 0.651 0.553 . 5.980 5.050 2.148 0.126 0.549 1.000 0.981 0.720 687 . . . . CCDC186 83 0 54 6 0.1 TRUE TRUE +ENSG00000179119.15 . BCM GRCh38.p13 chr11 18616000 18616000 + T T A Missense_Mutation SNP ENST00000336349.6 exon3 c.A274T p.N92Y exonic ENSG00000179119.15 . nonsynonymous SNV ENSG00000179119.15:ENST00000336349.6:exon3:c.A274T:p.N92Y 11p15.1 C3N-00148 . . . . . . . . . 15.20 D D D D D D M T D 0.771 T T D 0.433 0.343 0.155 0.560 T T D D D D 3.888 26.300 0.992 D D 0.777 8.342 0.761 9.074 1.000 0.731 0.750 0.651 0.714 . 5.630 5.630 7.945 1.138 0.665 1.000 1.000 0.998 607 . . . . SPTY2D1 180 0 117 26 0.181818181818182 NA TRUE +ENSG00000168000.14 . BCM GRCh38.p13 chr11 62690504 62690504 + C C T Missense_Mutation SNP ENST00000403550.5 exon11 c.G1060A p.D354N exonic ENSG00000168000.14 . nonsynonymous SNV ENSG00000168000.14:ENST00000403550.5:exon11:c.G1060A:p.D354N 11q12.3 C3N-00148 . . . . . . . . . 13.20 D D P B U D M D D 0.549 D D D 0.270 0.289 0.894 . T T T T D D 3.305 24.100 0.999 D D 0.206 3.330 0.329 3.892 1.000 0.707 0.725 0.702 0.714 . 5.410 5.410 3.623 1.026 0.599 1.000 1.000 0.998 451 . . . . BSCL2 480 0 302 77 0.203166226912929 TRUE TRUE +ENSG00000174276.7 . BCM GRCh38.p13 chr11 65116791 65116791 + - NA G Frame_Shift_Ins NA ENST00000310597.6 exon1 c.862dupC p.H288Pfs*40 exonic ENSG00000174276.7 . frameshift insertion ENSG00000174276.7:ENST00000310597.6:exon1:c.862dupC:p.H288Pfs*40 11q13.1 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNHIT2 NA NA NA NA NA NA NA +ENSG00000172890.13 . BCM GRCh38.p13 chr11 71490868 71490868 + A A T Missense_Mutation SNP ENST00000319023.7 exon17 c.A1586T p.Y529F exonic ENSG00000172890.13 . nonsynonymous SNV ENSG00000172890.13:ENST00000319023.7:exon17:c.A1586T:p.Y529F 11q13.4 C3N-00148 . . . . . . . . . 11.20 D D P P D D M T D 0.792 T T T 0.395 0.874 0.765 0.668 D T T T D D 3.898 26.300 0.989 D D 0.647 6.435 0.604 6.278 1.000 0.706 0.725 0.710 0.714 . 4.460 4.460 8.218 1.312 0.756 1.000 0.981 0.994 624 NAD/GMP_synthase . . . NADSYN1 160 0 135 39 0.224137931034483 TRUE TRUE +ENSG00000149256.16 . BCM GRCh38.p13 chr11 78854229 78854229 + C C T Missense_Mutation SNP ENST00000278550.12 exon12 c.G1556A p.G519E exonic ENSG00000149256.16 . nonsynonymous SNV ENSG00000149256.16:ENST00000278550.12:exon12:c.G1556A:p.G519E 11q14.1 C3N-00148 . . . . . . . . . 4.20 D T P B N D L T N 0.272 T T T 0.036 0.450 0.082 0.368 T T T T T T 1.777 17.570 0.983 D D -0.017 2.452 0.125 2.837 0.955 0.487 0.590 0.547 0.564 . 5.070 5.070 2.781 1.026 0.599 0.778 0.717 0.786 945 . . . ID=COSV53669886;OCCURENCE=1(NS) TENM4 128 0 109 28 0.204379562043796 TRUE TRUE +ENSG00000137656.12 . BCM GRCh38.p13 chr11 116763149 116763149 + G G A Missense_Mutation SNP ENST00000260210.5 exon4 c.C440T p.T147I exonic ENSG00000137656.12 . nonsynonymous SNV ENSG00000137656.12:ENST00000260210.5:exon4:c.C440T:p.T147I 11q23.3 C3N-00148 8.557e-06 0 0 0 0 1.528e-05 0 0 rs151030369 8.20 D D P B N D M T D 0.245 T T T 0.120 . 0.502 0.422 T T T T D D 2.661 22.800 0.987 D N 0.081 2.813 0.041 2.505 1.000 0.707 0.725 0.725 0.714 . 5.010 5.010 7.868 1.060 0.604 0.992 0.006 0.022 503 . . . . BUD13 78 0 52 12 0.1875 TRUE NA +ENSG00000134909.18 . BCM GRCh38.p13 chr11 128969653 128969653 + G G C Missense_Mutation SNP ENST00000310343.13 exon22 c.C5518G p.H1840D exonic ENSG00000134909.18 . nonsynonymous SNV ENSG00000134909.18:ENST00000310343.13:exon22:c.C5518G:p.H1840D 11q24.3 C3N-00148 . . . . . . . . . 7.20 D D B B D D L T N 0.578 T T T 0.196 0.297 0.117 0.233 T T T T D T 2.373 22.000 0.965 D D 0.053 2.705 0.100 2.735 0.999 0.635 0.588 0.644 0.636 . 5.950 5.950 5.740 1.083 0.676 1.000 0.679 0.059 552 . . . . ARHGAP32 230 0 154 36 0.189473684210526 TRUE TRUE +ENSG00000151503.13 . BCM GRCh38.p13 chr11 134206657 134206657 + G G A Missense_Mutation SNP ENST00000534548.7 exon8 c.C958T p.P320S exonic ENSG00000151503.13 . nonsynonymous SNV ENSG00000151503.13:ENST00000534548.7:exon8:c.C958T:p.P320S 11q25 C3N-00148 . . . . . . . . . 1.20 T T B B N N L T D 0.149 T T T 0.033 0.328 0.176 0.076 T T T T T T 0.742 8.842 0.450 N N -0.962 0.446 -0.993 0.498 0.990 0.707 0.725 0.725 0.714 . 5.780 1.310 0.586 0.194 -0.154 0.016 0.005 0.006 878 . . . . NCAPD3 248 0 199 40 0.167364016736402 TRUE TRUE +ENSG00000205857.2 . BCM GRCh38.p13 chr12 7770296 7770296 + T T C Missense_Mutation SNP ENST00000382119.1 exon2 c.T416C p.F139S exonic ENSG00000205857.2 . nonsynonymous SNV ENSG00000205857.2:ENST00000382119.1:exon2:c.T416C:p.F139S 12p13.31 C3N-00148 . . . . . . . . . 9.20 D T D D U N L D N 0.860 D D T 0.511 0.296 0.374 . T T D D D T 2.705 22.800 0.996 N N -0.107 2.153 -0.331 1.501 0.002 0.487 0.574 0.547 0.564 . 3.070 3.070 1.811 0.757 0.645 0.013 0.060 0.029 917 Homeobox_domain . . . NANOGNB 98 0 40 5 0.111111111111111 TRUE TRUE +ENSG00000111142.14 . BCM GRCh38.p13 chr12 95476108 95476109 + AG AG - Frame_Shift_Del DEL ENST00000323666.10 exon2 c.189_190del p.V64Gfs*2 exonic ENSG00000111142.14 . frameshift deletion ENSG00000111142.14:ENST00000323666.10:exon2:c.189_190del:p.V64Gfs*2 12q22 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . METAP2 133 0 63 8 0.112676056338028 TRUE TRUE +ENSG00000090975.12 . BCM GRCh38.p13 chr12 122996868 122996868 + A A - Frame_Shift_Del DEL ENST00000320201.8 exon11 c.1515delT p.Q506Rfs*26 exonic ENSG00000090975.12 . frameshift deletion ENSG00000090975.12:ENST00000320201.8:exon11:c.1515delT:p.Q506Rfs*26 12q24.31 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PITPNM2 121 0 65 16 0.197530864197531 TRUE TRUE +ENSG00000165416.14 . BCM GRCh38.p13 chr13 52659214 52659214 + C C - Nonsense_Mutation SNP ENST00000343788.10 exon5 c.293delC p.L99* exonic ENSG00000165416.14 . stopgain ENSG00000165416.14:ENST00000343788.10:exon5:c.293delC:p.L99* 13q14.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUGT1 41 0 23 5 0.178571428571429 NA TRUE +ENSG00000126773.13 . BCM GRCh38.p13 chr14 60107949 60107949 + T T C Missense_Mutation SNP ENST00000406854.6 exon2 c.T311C p.I104T exonic ENSG00000126773.13 . nonsynonymous SNV ENSG00000126773.13:ENST00000406854.6:exon2:c.T311C:p.I104T 14q23.1 C3N-00148 . . . . . . . . . 4.17 T D . . U D L T N 0.315 T T T 0.278 0.572 0.170 . . T T T T T 1.907 18.540 0.933 D D 0.247 3.517 0.291 3.665 1.000 0.706 0.725 0.710 0.714 . 5.540 5.540 7.674 1.138 0.665 1.000 0.053 0.296 600 . . . . PCNX4 194 0 74 26 0.26 TRUE NA +ENSG00000198838.13 . BCM GRCh38.p13 chr15 33810560 33810560 + G G T Missense_Mutation SNP ENST00000634891.1 exon71 c.G10108T p.A3370S exonic ENSG00000198838.13 . nonsynonymous SNV ENSG00000198838.13:ENST00000634891.1:exon71:c.G10108T:p.A3370S 15q14 C3N-00148 . . . . . . . . . 9.19 D . D D D D L T D 0.540 T T T 0.249 0.685 0.514 0.187 T T T T D T 2.421 22.200 0.994 D D 0.316 3.860 0.327 3.877 0.968 0.556 0.574 0.685 0.584 . 5.150 4.230 5.036 1.176 0.676 1.000 0.948 0.964 906 . . . . RYR3 285 0 224 39 0.14828897338403 TRUE TRUE +ENSG00000166963.13 . BCM GRCh38.p13 chr15 43528744 43528744 + G G T Missense_Mutation SNP ENST00000300231.6 exon4 c.G7271T p.S2424I exonic ENSG00000166963.13 . nonsynonymous SNV ENSG00000166963.13:ENST00000300231.6:exon4:c.G7271T:p.S2424I 15q15.3 C3N-00148 . . . . . . . . . 1.19 T T B B . N L T N 0.176 T T T 0.045 0.162 0.068 0.253 T T T T T T 1.049 12.230 0.653 D N -0.728 0.766 -0.718 0.874 1.000 0.615 0.588 0.659 0.568 . 4.630 2.680 3.525 1.176 0.676 0.503 0.023 0.047 19 . . . . MAP1A 77 0 61 25 0.290697674418605 TRUE TRUE +ENSG00000141076.18 . BCM GRCh38.p13 chr16 69163109 69163109 + T T A Missense_Mutation SNP ENST00000314423.12 exon14 c.T1578A p.N526K exonic ENSG00000141076.18 . nonsynonymous SNV ENSG00000141076.18:ENST00000314423.12:exon14:c.T1578A:p.N526K 16q22.1 C3N-00148 . . . . . . . . . 5.19 T D B B D N . T N 0.556 T T D 0.122 0.510 0.252 0.226 T T T T T D 1.590 16.310 0.977 D N -0.806 0.647 -0.698 0.902 0.757 0.707 0.725 0.725 0.714 . 5.880 -2.190 0.611 -0.196 -0.142 0.999 0.985 0.973 101 . . . . UTP4 568 0 377 105 0.217842323651452 TRUE TRUE +ENSG00000129204.17 . BCM GRCh38.p13 chr17 5172901 5172901 + G G T Missense_Mutation SNP ENST00000574788.6 exon38 c.G4144T p.G1382C exonic ENSG00000129204.17 . nonsynonymous SNV ENSG00000129204.17:ENST00000574788.6:exon38:c.G4144T:p.G1382C 17p13.2 C3N-00148 . . . . . . . . . 12.20 D D D D D D L T D 0.575 T T D 0.346 0.330 0.564 0.885 T T T T D D 4.286 29.500 0.995 D D 0.431 4.544 0.293 3.678 0.254 0.554 0.588 0.537 0.568 . 2.350 2.350 9.665 0.968 0.327 1.000 0.989 0.963 572 . . . . USP6 286 2 244 20 0.0757575757575758 NA TRUE +ENSG00000159217.10 . BCM GRCh38.p13 chr17 49041494 49041494 + T T - Frame_Shift_Del DEL ENST00000290341.8 exon8 c.935delT p.I312Tfs*18 exonic ENSG00000159217.10 . frameshift deletion ENSG00000159217.10:ENST00000290341.8:exon8:c.935delT:p.I312Tfs*18 17q21.32 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGF2BP1 168 0 110 21 0.16030534351145 TRUE TRUE +ENSG00000167107.12 . BCM GRCh38.p13 chr17 50463213 50463213 + - NA C Frame_Shift_Ins NA ENST00000300441.8 exon7 c.851dupC p.N285Qfs*11 exonic ENSG00000167107.12 . frameshift insertion ENSG00000167107.12:ENST00000300441.8:exon7:c.851dupC:p.N285Qfs*11 17q21.33 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACSF2 NA NA NA NA NA NA NA +ENSG00000264364.3 . BCM GRCh38.p13 chr17 58089224 58089224 + A A T Missense_Mutation SNP ENST00000579991.3 exon3 c.A215T p.H72L exonic ENSG00000264364.3 . nonsynonymous SNV ENSG00000264364.3:ENST00000579991.3:exon3:c.A215T:p.H72L 17q22 C3N-00148 . . . . . . . . . 9.16 . T B B D D . . . 0.876 T T D 0.490 0.685 0.866 2.075 D T D D D T 3.207 23.900 0.973 D D 0.192 3.269 0.371 4.161 1.000 0.719 0.723 0.702 0.714 . 5.580 5.580 8.947 1.312 0.756 1.000 1.000 1.000 469 . . . . DYNLL2 174 0 158 31 0.164021164021164 TRUE TRUE +ENSG00000189050.16 . BCM GRCh38.p13 chr17 59957270 59957270 + C C T Missense_Mutation SNP ENST00000305783.13 exon6 c.G959A p.R320K exonic ENSG00000189050.16 . nonsynonymous SNV ENSG00000189050.16:ENST00000305783.13:exon6:c.G959A:p.R320K 17q23.1 C3N-00148 . . . . . . . . . 2.20 T T B B N D N T N 0.162 T T T 0.027 0.438 0.265 0.170 T T T T T T 1.425 15.250 0.806 D N -0.582 1.021 -0.420 1.336 0.002 0.706 0.709 0.659 0.613 . 5.210 2.070 1.442 0.088 0.599 0.717 0.999 0.990 262 . . . . RNFT1 178 0 92 22 0.192982456140351 TRUE TRUE +ENSG00000108506.12 . BCM GRCh38.p13 chr17 61907447 61907447 + A A C Nonsense_Mutation SNP ENST00000444766.7 exon8 c.T1166G p.L389X exonic ENSG00000108506.12 . stopgain ENSG00000108506.12:ENST00000444766.7:exon8:c.T1166G:p.L389X 17q23.2 C3N-00148 . . . . . . . . . 5.6 . . . . D A . . . 0.559 . . . . . . . . . D D . . 6.911 36 0.992 D N 1.197 23.460 1.065 23.577 1.000 0.706 0.654 0.710 0.714 . 5.870 5.870 8.718 1.312 0.756 1.000 1.000 1.000 39 . . . . INTS2 437 0 320 53 0.142091152815013 TRUE TRUE +ENSG00000134758.14 . BCM GRCh38.p13 chr18 32126768 32126768 + C C G Missense_Mutation SNP ENST00000261593.8 exon7 c.C637G p.Q213E exonic ENSG00000134758.14 . nonsynonymous SNV ENSG00000134758.14:ENST00000261593.8:exon7:c.C637G:p.Q213E 18q12.1 C3N-00148 . . . . . . . . . 5.20 T T P B N D L D N 0.424 T T D 0.264 0.333 0.528 0.999 T T T T D T 1.605 16.410 0.950 D N 0.110 2.928 0.232 3.342 1.000 0.732 0.744 0.744 0.728 . 4.980 4.980 2.622 1.008 0.599 1.000 1.000 0.995 825 Drought_induced_19_protein_type,_zinc-binding_domain . . . RNF138 90 0 47 9 0.160714285714286 TRUE TRUE +ENSG00000215474.8 . BCM GRCh38.p13 chr18 47248381 47248381 + G G T Missense_Mutation SNP ENST00000425639.3 exon2 c.C803A p.A268D exonic ENSG00000215474.8 . nonsynonymous SNV ENSG00000215474.8:ENST00000425639.3:exon2:c.C803A:p.A268D 18q21.1 C3N-00148 . . . . . . . . . 5.15 D T . . . D . T N 0.332 T T D 0.283 0.414 0.590 1.616 D . T T T T 2.306 21.600 0.946 D N -0.212 1.842 -0.240 1.694 1.000 0.598 0.590 0.596 0.639 . 4.020 4.020 0.895 0.865 0.556 0.020 0.052 0.044 872 . . . . SKOR2 37 0 37 13 0.26 TRUE TRUE +ENSG00000133250.14 . BCM GRCh38.p13 chr19 8512409 8512409 + A A T Missense_Mutation SNP ENST00000255616.8 exon4 c.T508A p.Y170N exonic ENSG00000133250.14 . nonsynonymous SNV ENSG00000133250.14:ENST00000255616.8:exon4:c.T508A:p.Y170N 19p13.2 C3N-00148 . . . . . . . . . 9.20 D T D D D D L T D 0.794 T T T 0.179 0.537 0.305 1.096 T T T T D D 3.958 26.700 0.989 D N 0.227 3.423 0.245 3.414 1.000 0.731 0.607 0.750 0.581 . 4.920 3.910 3.769 1.311 0.756 1.000 0.997 0.938 645 Zinc_finger_C2H2-type;C2H2-type_zinc_ribbon . . . ZNF414 262 0 162 42 0.205882352941176 TRUE TRUE +ENSG00000104774.13 . BCM GRCh38.p13 chr19 12647280 12647280 + T T C Missense_Mutation SNP ENST00000456935.7 exon23 c.A2876G p.N959S exonic ENSG00000104774.13;ENSG00000269242.1 . nonsynonymous SNV ENSG00000104774.13:ENST00000456935.7:exon23:c.A2876G:p.N959S 19p13.13 C3N-00148 . . . . . . . . . 14.20 D D D P D D H D D 0.559 D D D 0.680 0.880 0.905 0.723 T D T T D T 3.256 24.000 0.999 D N 0.533 5.306 0.462 4.827 1.000 0.635 0.644 0.269 0.646 . 5.840 4.800 2.138 1.138 0.665 1.000 0.999 0.947 819 Glycosyl_hydrolase_family_38,_C-terminal . . . MAN2B1 262 0 211 47 0.182170542635659 TRUE TRUE +ENSG00000167232.14 . BCM GRCh38.p13 chr19 23360967 23360967 + G G C Nonsense_Mutation SNP ENST00000300619.12 exon4 c.C2012G p.S671X exonic ENSG00000167232.14 . stopgain ENSG00000167232.14:ENST00000300619.12:exon4:c.C2012G:p.S671X 19p12 C3N-00148 . . . . . . . . . 3.5 . . . . . D . . . 0.037 . . . . . . . . . D D . . 4.821 33 0.979 N N 0.076 2.793 -0.349 1.467 0.697 0.706 0.710 0.659 0.684 . 1.710 1.710 -0.006 0.380 0.309 0.000 0.003 0.005 988 Zinc_finger_C2H2-type . . . ZNF91 163 0 80 11 0.120879120879121 NA TRUE +ENSG00000104941.8 . BCM GRCh38.p13 chr19 45804619 45804619 + A A G Missense_Mutation SNP ENST00000221538.8 exon3 c.T1286C p.F429S exonic ENSG00000104941.8 . nonsynonymous SNV ENSG00000104941.8:ENST00000221538.8:exon3:c.T1286C:p.F429S 19q13.32 C3N-00148 . . . . . . . . . 15.20 D D D D D D M T D 0.952 T T D 0.447 0.844 0.280 0.640 T T D D D D 4.190 28.600 0.998 D D 0.616 6.094 0.518 5.323 0.002 0.428 0.547 0.547 0.613 . 3.930 3.930 3.615 1.307 0.751 1.000 1.000 0.994 764 . . . . RSPH6A 184 0 153 39 0.203125 TRUE TRUE +ENSG00000186431.19 . BCM GRCh38.p13 chr19 54885347 54885347 + G G T Missense_Mutation SNP ENST00000355524.8 exon3 c.G183T p.M61I exonic ENSG00000186431.19 . nonsynonymous SNV ENSG00000186431.19:ENST00000355524.8:exon3:c.G183T:p.M61I 19q13.42 C3N-00148 . . . . . . . . . 0.19 T T B B N N L T N 0.218 T T T 0.046 0.563 0.076 0.077 T T T T T . -0.375 0.217 0.610 N N -1.065 0.339 -1.204 0.280 0.000 0.487 0.574 0.547 0.564 . 3.050 -2.330 -0.845 -0.441 0.596 0.000 0.000 0.005 976 Immunoglobulin_subtype . . . FCAR 378 0 277 81 0.226256983240223 TRUE TRUE +ENSG00000101916.12 . BCM GRCh38.p13 chrX 12921039 12921039 + A A T Missense_Mutation SNP ENST00000218032.7 exon2 c.A1999T p.T667S exonic ENSG00000101916.12 . nonsynonymous SNV ENSG00000101916.12:ENST00000218032.7:exon2:c.A1999T:p.T667S Xp22.2 C3N-00148 . . . . . . . . . 2.19 T T P B N N L T N 0.050 T T D 0.085 0.304 0.630 1.178 T T T T T T 0.943 10.910 0.730 D . . . . . 1.000 . . . . . 5.820 3.020 3.057 0.232 0.756 0.099 0.011 0.013 690 . . . . TLR8 116 0 44 32 0.421052631578947 TRUE TRUE +ENSG00000147223.6 . BCM GRCh38.p13 chrX 106903183 106903183 + T T G Missense_Mutation SNP ENST00000276173.5 exon1 c.A105C p.L35F exonic ENSG00000147223.6 . nonsynonymous SNV ENSG00000147223.6:ENST00000276173.5:exon1:c.A105C:p.L35F Xq22.3 C3N-00148 . . . . . . . . . 0.18 T T B B N N L . N 0.074 T T T 0.083 0.177 0.395 0.030 T T T T T T 0.144 2.510 0.841 N . . . . . 0.989 . . . . . 4.280 -0.357 0.449 -0.696 -0.175 0.000 0.000 0.005 309 . . . . RIPPLY1 139 0 123 24 0.163265306122449 TRUE NA +ENSG00000121753.12 . BCM GRCh38.p13 chr1 31733122 31733122 + G G A Silent SNP ENST00000373658.7 exon26 c.C3474T p.C1158C exonic ENSG00000121753.12 . synonymous SNV ENSG00000121753.12:ENST00000373658.7:exon26:c.C3474T:p.C1158C 1p35.2 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99926696;OCCURENCE=1(stomach) ADGRB2 113 0 62 23 0.270588235294118 TRUE NA +ENSG00000187147.18 . BCM GRCh38.p13 chr1 44636152 44636152 + T T C Silent SNP ENST00000361799.7 exon8 c.T1116C p.G372G exonic ENSG00000187147.18 . synonymous SNV ENSG00000187147.18:ENST00000361799.7:exon8:c.T1116C:p.G372G 1p34.1 C3N-00148 2.561e-05 0 0 0 0 0 0 0.0002 rs777588828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59190229;OCCURENCE=1(large_intestine) RNF220 105 0 84 9 0.0967741935483871 TRUE TRUE +ENSG00000116641.18 . BCM GRCh38.p13 chr1 62489045 62489045 + A A T Silent SNP ENST00000635253.2 exon42 c.T5382A p.V1794V exonic ENSG00000116641.18 . synonymous SNV ENSG00000116641.18:ENST00000635253.2:exon42:c.T5382A:p.V1794V 1p31.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK7 64 0 38 9 0.191489361702128 TRUE TRUE +ENSG00000205221.12 . BCM GRCh38.p13 chr2 36805604 36805604 + C C A Silent SNP ENST00000389975.7 exon13 c.C1284A p.T428T exonic ENSG00000205221.12 . synonymous SNV ENSG00000205221.12:ENST00000389975.7:exon13:c.C1284A:p.T428T 2p22.2 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VIT 218 0 159 43 0.212871287128713 TRUE TRUE +ENSG00000170264.13 . BCM GRCh38.p13 chr2 61839612 61839612 + A A G Silent SNP ENST00000405894.3 exon3 c.T1392C p.H464H exonic ENSG00000170264.13 . synonymous SNV ENSG00000170264.13:ENST00000405894.3:exon3:c.T1392C:p.H464H 2p15 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM161A 410 0 253 70 0.21671826625387 TRUE TRUE +ENSG00000114923.17 . BCM GRCh38.p13 chr2 219633349 219633349 + G G C Silent SNP ENST00000358055.8 exon10 c.G1353C p.G451G exonic ENSG00000114923.17 . synonymous SNV ENSG00000114923.17:ENST00000358055.8:exon10:c.G1353C:p.G451G 2q35 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC4A3 31 0 30 5 0.142857142857143 TRUE TRUE +ENSG00000007402.11 . BCM GRCh38.p13 chr3 50375682 50375682 + C C A Silent SNP ENST00000479441.1 exon21 c.G1869T p.R623R exonic ENSG00000007402.11 . synonymous SNV ENSG00000007402.11:ENST00000479441.1:exon21:c.G1869T:p.R623R 3p21.31 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA2D2 200 0 101 35 0.257352941176471 TRUE TRUE +ENSG00000084093.18 . BCM GRCh38.p13 chr4 56911437 56911437 + T T C Silent SNP ENST00000309042.12 exon2 c.T799C p.L267L exonic ENSG00000084093.18 . synonymous SNV ENSG00000084093.18:ENST00000309042.12:exon2:c.T799C:p.L267L 4q12 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REST 162 0 110 33 0.230769230769231 TRUE TRUE +ENSG00000154556.18 . BCM GRCh38.p13 chr4 185623356 185623356 + C C T Silent SNP ENST00000284776.11 exon13 c.G2061A p.R687R exonic ENSG00000154556.18 . synonymous SNV ENSG00000154556.18:ENST00000284776.11:exon13:c.G2061A:p.R687R 4q35.1 C3N-00148 8.301e-06 0 0 0 0 1.512e-05 0 0 rs775418076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORBS2 459 0 319 76 0.192405063291139 TRUE NA +ENSG00000168621.15 . BCM GRCh38.p13 chr5 37815675 37815675 + G G A Silent SNP ENST00000326524.7 exon3 c.C612T p.S204S exonic ENSG00000168621.15 . synonymous SNV ENSG00000168621.15:ENST00000326524.7:exon3:c.C612T:p.S204S 5p13.2 C3N-00148 2.471e-05 0 8.639e-05 0 0.0002 0 0 6.056e-05 rs747788686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GDNF 332 1 306 40 0.115606936416185 TRUE NA +ENSG00000118513.19 . BCM GRCh38.p13 chr6 135201731 135201731 + G G T Silent SNP ENST00000367814.8 exon13 c.G1680T p.S560S exonic ENSG00000118513.19 . synonymous SNV ENSG00000118513.19:ENST00000367814.8:exon13:c.G1680T:p.S560S 6q23.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYB 58 0 65 4 0.0579710144927536 TRUE NA +ENSG00000179869.15 . BCM GRCh38.p13 chr7 48239381 48239381 + C C G Silent SNP ENST00000435803.6 exon9 c.C1038G p.V346V exonic ENSG00000179869.15 . synonymous SNV ENSG00000179869.15:ENST00000435803.6:exon9:c.C1038G:p.V346V 7p12.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCA13 88 0 85 9 0.0957446808510638 TRUE TRUE +ENSG00000198853.12 . BCM GRCh38.p13 chr9 35555622 35555622 + C C T Silent SNP ENST00000455600.1 exon3 c.C2577T p.S859S exonic ENSG00000198853.12 . synonymous SNV ENSG00000198853.12:ENST00000455600.1:exon3:c.C2577T:p.S859S 9p13.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RUSC2 220 0 146 12 0.0759493670886076 NA TRUE +ENSG00000180264.11 . BCM GRCh38.p13 chr9 124476413 124476413 + C C G Unknown SNP NA NA NA NA exonic ENSG00000180264.11 . unknown UNKNOWN 9q33.3 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRD2 103 0 78 12 0.133333333333333 TRUE TRUE +ENSG00000148677.6 . BCM GRCh38.p13 chr10 90915627 90915627 + C C A Silent SNP ENST00000371697.3 exon8 c.G765T p.P255P exonic ENSG00000148677.6 . synonymous SNV ENSG00000148677.6:ENST00000371697.3:exon8:c.G765T:p.P255P 10q23.31 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD1 745 2 535 136 0.202682563338301 TRUE TRUE +ENSG00000165478.7 . BCM GRCh38.p13 chr11 124921324 124921324 + G G A Silent SNP ENST00000298251.5 exon7 c.C1065T p.I355I exonic ENSG00000165478.7 . synonymous SNV ENSG00000165478.7:ENST00000298251.5:exon7:c.C1065T:p.I355I 11q24.2 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HEPACAM 49 0 49 11 0.183333333333333 TRUE TRUE +ENSG00000135452.10 . BCM GRCh38.p13 chr12 57745789 57745789 + C C G Silent SNP ENST00000257910.8 exon2 c.C108G p.G36G exonic ENSG00000135452.10 . synonymous SNV ENSG00000135452.10:ENST00000257910.8:exon2:c.C108G:p.G36G 12q14.1 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPAN31 108 0 88 21 0.192660550458716 TRUE TRUE +ENSG00000178502.6 . BCM GRCh38.p13 chr17 41865191 41865191 + G G A Silent SNP ENST00000319121.4 exon1 c.C180T p.S60S exonic ENSG00000178502.6 . synonymous SNV ENSG00000178502.6:ENST00000319121.4:exon1:c.C180T:p.S60S 17q21.2 C3N-00148 9.516e-06 0 0 0 0 1.728e-05 0 0 rs782083223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL11 90 0 91 23 0.201754385964912 TRUE NA +ENSG00000166974.13 . BCM GRCh38.p13 chr18 35041545 35041545 + T T C Silent SNP ENST00000300249.10 exon1 c.T6C p.P2P exonic ENSG00000166974.13 . synonymous SNV ENSG00000166974.13:ENST00000300249.10:exon1:c.T6C:p.P2P 18q12.1 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPRE2 193 0 119 35 0.227272727272727 TRUE TRUE +ENSG00000196109.9 . BCM GRCh38.p13 chr19 22180346 22180346 + G G A Silent SNP ENST00000397121.3 exon3 c.C1371T p.A457A exonic ENSG00000196109.9 . synonymous SNV ENSG00000196109.9:ENST00000397121.3:exon3:c.C1371T:p.A457A 19p12 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF676 299 0 184 58 0.239669421487603 NA TRUE +ENSG00000135778.12 . BCM GRCh38.p13 chr1 232976515 232976515 + G G C Intron SNP NA NA NA NA intronic ENSG00000135778.12 . . . 1q42.2 C3N-00148 . . . . . . . . . 1.16 D . P B . N . T N 0.229 T T T 0.054 0.172 0.323 . . T T T T T 0.442 5.890 0.839 N N -0.831 0.612 -1.085 0.391 0.022 0.563 0.546 0.609 0.714 . 1.660 -3.320 -0.364 0.039 0.618 0.000 0.002 0.249 938 . . . . NTPCR 69 1 59 8 0.119402985074627 TRUE TRUE +ENSG00000118004.18 . BCM GRCh38.p13 chr2 3606194 3606194 + G G T Intron SNP NA NA NA NA intronic ENSG00000118004.18 . . . 2p25.3 C3N-00148 . . . . . . . . . 5.16 D D B B . D . T N 0.376 T T D 0.094 0.936 0.470 . . . T T T D -0.128 0.727 0.435 N N -1.220 0.213 -1.392 0.155 0.999 0.403 0.547 0.578 0.613 . 0.640 -1.280 -1.632 0.576 0.509 0.000 0.012 0.005 911 . . . . COLEC11 269 0 190 57 0.230769230769231 TRUE NA +ENSG00000146063.20 . BCM GRCh38.p13 chr5 181230858 181230858 + C C T Intron SNP NA NA NA NA intronic ENSG00000146063.20 . . . 5q35.3 C3N-00148 4.947e-05 0.0004 0 0 0 3.001e-05 0 0 rs367715726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59321829;OCCURENCE=1(large_intestine) TRIM41 165 1 154 37 0.193717277486911 TRUE NA +ENSG00000181444.13 . BCM GRCh38.p13 chr7 149764601 149764601 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000181444.13 ENST00000302017.4:c.*113C>T . . 7q36.1 C3N-00148 . . . . . . . . . 3.15 D D B B . N . . D 0.190 T T T 0.024 0.270 0.030 . . . T T T T 0.290 4.178 0.670 N N -0.969 0.438 -1.089 0.387 1.000 0.516 0.610 0.607 0.568 . 1.750 0.595 0.300 -0.363 -0.278 0.012 0.000 0.001 982 . . . . ZNF467 184 0 196 11 0.0531400966183575 TRUE NA +ENSG00000139182.15 . BCM GRCh38.p13 chr12 7156555 7156555 + C C T Intron SNP NA NA NA NA intronic ENSG00000139182.15 . . . 12p13.31 C3N-00148 . . . . . . . . . 0.3 . . . . . N . . . . . . . . . . . . . . . . T 0.552 7.038 0.721 N . . . . . 0.994 0.093 0.131 0.084 0.110 0.189 4.370 2.360 0.011 0.084 0.469 0.000 0.008 0.085 721 . . . . CLSTN3 187 0 142 28 0.164705882352941 TRUE NA +ENSG00000273149.1 . BCM GRCh38.p13 chr13 45340478 45340478 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000273149.1 . . . 13q14.13 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL138963.4 268 0 166 33 0.165829145728643 TRUE NA +ENSG00000187187.14 . BCM GRCh38.p13 chr19 40015816 40015816 + G G T 3'UTR SNP NA NA NA NA UTR3 ENSG00000187187.14 ENST00000347077.9:c.*35G>T . . 19q13.2 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF546 69 0 29 5 0.147058823529412 TRUE NA +ENSG00000105379.10 . BCM GRCh38.p13 chr19 51354369 51354369 + C C T Intron SNP NA NA NA NA intronic ENSG00000105379.10;ENSG00000269403.1 . . . 19q13.41 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ETFB 254 0 236 35 0.129151291512915 TRUE NA +ENSG00000154655.15 . BCM GRCh38.p13 chr18 6171942 6171943 + CC CC AG Unknown MNP NA NA NA NA exonic ENSG00000154655.15;ENSG00000154655.15 . nonsynonymous SNV ENSG00000154655.15:ENST00000400105.6:exon13:c.G982T:p.V328F 18p11.31 C3N-00148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . L3MBTL4 158 12 135 12 0.0816326530612245 TRUE TRUE +ENSG00000117450.14 . BCM GRCh38.p13 chr1 45514988 45514988 + - NA A Frame_Shift_Ins NA ENST00000319248.13 exon4 c.267dupT p.T90Yfs*3 exonic ENSG00000117450.14 . frameshift insertion ENSG00000117450.14:ENST00000319248.13:exon4:c.267dupT:p.T90Yfs*3 1p34.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDX1 NA NA NA NA NA NA NA +ENSG00000117461.15 . BCM GRCh38.p13 chr1 46061935 46061935 + A A T Missense_Mutation SNP ENST00000262741.10 exon6 c.T758A p.I253N exonic ENSG00000117461.15;ENSG00000278139.1 . nonsynonymous SNV ENSG00000117461.15:ENST00000262741.10:exon6:c.T758A:p.I253N,ENSG00000278139.1:ENST00000540385.2:exon6:c.T896A:p.I299N 1p34.1 C3N-00149 . . . . . . . . . 18.20 D D P P D D M D D 0.925 D D D 0.663 0.297 0.974 0.611 D D D D D D 4.221 28.900 0.991 D D 0.771 8.242 0.785 9.692 1.000 0.615 0.546 0.659 0.636 . 5.860 5.860 9.325 1.312 0.756 1.000 0.999 0.997 79 PI3K_p85_subunit,_inter-SH2_domain . . . PIK3R3 262 0 141 32 0.184971098265896 TRUE TRUE +ENSG00000122482.21 . BCM GRCh38.p13 chr1 90937527 90937527 + A A C Missense_Mutation SNP ENST00000337393.10 exon4 c.T3646G p.L1216V exonic ENSG00000122482.21 . nonsynonymous SNV ENSG00000122482.21:ENST00000337393.10:exon4:c.T3646G:p.L1216V 1p22.2 C3N-00149 . . . . . . . . . 6.20 D T P B N D L T N 0.661 T T D 0.149 0.084 0.222 0.673 T T T T D D 1.675 16.860 0.990 D N -0.086 2.218 0.061 2.578 0.982 0.707 0.725 0.644 0.636 . 6.000 4.860 1.967 1.312 0.756 0.921 0.975 0.992 914 . . . . ZNF644 200 0 179 51 0.221739130434783 TRUE TRUE +ENSG00000163349.22 . BCM GRCh38.p13 chr1 113940633 113940633 + A A G Missense_Mutation SNP ENST00000426820.7 exon2 c.A250G p.I84V exonic ENSG00000163349.22 . nonsynonymous SNV ENSG00000163349.22:ENST00000426820.7:exon2:c.A250G:p.I84V 1p13.2 C3N-00149 . . . . . . . . . 6.20 T T P P D D L T N 0.170 T T T 0.112 0.257 0.484 0.587 T T T T D D 2.380 22.000 0.996 D D 0.240 3.485 0.352 4.035 1.000 0.707 0.623 0.725 0.714 . 5.220 5.220 7.373 1.312 0.756 1.000 1.000 0.997 500 . . . . HIPK1 184 0 164 73 0.308016877637131 TRUE TRUE +ENSG00000173171.14 . BCM GRCh38.p13 chr1 155212393 155212393 + T T - Frame_Shift_Del DEL ENST00000368376.7 exon5 c.780delT p.W262Gfs*2 exonic ENSG00000173171.14 . frameshift deletion ENSG00000173171.14:ENST00000368376.7:exon5:c.780delT:p.W262Gfs*2 1q22 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTX1 74 0 74 30 0.288461538461538 NA TRUE +ENSG00000143258.16 . BCM GRCh38.p13 chr1 161162953 161162953 + A A C Missense_Mutation SNP ENST00000368002.8 exon7 c.A928C p.M310L exonic ENSG00000143258.16 . nonsynonymous SNV ENSG00000143258.16:ENST00000368002.8:exon7:c.A928C:p.M310L 1q23.3 C3N-00149 . . . . . . . . . 4.20 T T B B D D N T N 0.310 T T T 0.222 0.733 0.175 0.678 T T T T D T 1.624 16.520 0.770 D N -0.797 0.659 -0.523 1.166 1.000 0.732 0.744 0.725 0.636 . 4.830 4.830 1.010 1.312 0.756 0.792 1.000 0.986 297 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP21 46 0 34 7 0.170731707317073 TRUE TRUE +ENSG00000069275.13 . BCM GRCh38.p13 chr1 205718314 205718314 + C C A Missense_Mutation SNP ENST00000367142.5 exon7 c.G698T p.G233V exonic ENSG00000069275.13 . nonsynonymous SNV ENSG00000069275.13:ENST00000367142.5:exon7:c.G698T:p.G233V 1q32.1 C3N-00149 . . . . . . . . . 5.20 T T B B D D L T D 0.178 T T T 0.115 0.160 0.082 2.167 T T T T D T 2.372 22.000 0.994 D N -0.132 2.075 0.079 2.648 1.000 0.707 0.725 0.725 0.714 . 5.170 5.170 3.216 0.993 0.599 1.000 1.000 1.000 559 . . . . NUCKS1 188 0 182 46 0.201754385964912 TRUE TRUE +ENSG00000084674.15 . BCM GRCh38.p13 chr2 21002891 21002891 + T T - Frame_Shift_Del DEL ENST00000233242.5 exon29 c.12531delA p.V4178Lfs*7 exonic ENSG00000084674.15 . frameshift deletion ENSG00000084674.15:ENST00000233242.5:exon29:c.12531delA:p.V4178Lfs*7 2p24.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APOB 42 0 40 12 0.230769230769231 TRUE TRUE +ENSG00000138101.18 . BCM GRCh38.p13 chr2 25432913 25432913 + G G T Missense_Mutation SNP ENST00000406818.7 exon14 c.C1430A p.T477K exonic ENSG00000138101.18 . nonsynonymous SNV ENSG00000138101.18:ENST00000406818.7:exon14:c.C1430A:p.T477K 2p23.3 C3N-00149 . . . . . . . . . 15.20 D D D D D D M T D 0.752 T T D 0.313 0.323 0.571 0.526 T D D T D D 3.714 25.500 0.995 D D 0.432 4.547 0.494 5.106 1.000 0.626 0.586 0.805 0.668 . 5.800 4.910 8.138 0.245 0.676 1.000 0.938 0.960 567 . . . . DTNB 188 0 153 43 0.219387755102041 TRUE TRUE +ENSG00000003509.16 . BCM GRCh38.p13 chr2 37243875 37243875 + G G A Missense_Mutation SNP ENST00000002125.9 exon7 c.G694A p.G232R exonic ENSG00000003509.16 . nonsynonymous SNV ENSG00000003509.16:ENST00000002125.9:exon7:c.G694A:p.G232R 2p22.2 C3N-00149 . . . . . . . . . 16.20 D D D P D D M T D 0.919 D D D 0.803 0.632 0.726 0.193 T T D D D D 4.145 28.200 0.999 D D 0.908 11.259 0.886 13.170 1.000 0.757 0.699 0.702 0.657 . 5.940 5.940 8.179 1.176 0.676 1.000 0.998 0.990 515 . . . . NDUFAF7 238 0 221 75 0.253378378378378 TRUE TRUE +ENSG00000152292.17 . BCM GRCh38.p13 chr2 85436545 85436545 + G G A Missense_Mutation SNP ENST00000651736.1 exon16 c.G1049A p.R350Q exonic ENSG00000152292.17 . nonsynonymous SNV ENSG00000152292.17:ENST00000651736.1:exon16:c.G1049A:p.R350Q 2p11.2 C3N-00149 1.66e-05 0 8.672e-05 0 0 0 0 6.058e-05 rs755907033 3.15 T D . . N N . . N 0.303 T T D 0.306 . 0.619 . T . T T D T 2.944 23.300 0.999 N N -0.084 2.227 -0.186 1.820 1.000 0.526 0.547 0.441 0.584 . 5.250 4.370 1.875 1.083 0.676 0.024 0.553 0.742 866 . . . . SH2D6 146 0 138 41 0.229050279329609 TRUE NA +ENSG00000249715.12 . BCM GRCh38.p13 chr2 96703264 96703264 + A A T Missense_Mutation SNP ENST00000624922.6 exon50 c.A5609T p.K1870M exonic ENSG00000249715.12 . nonsynonymous SNV ENSG00000249715.12:ENST00000624922.6:exon50:c.A5609T:p.K1870M 2q11.2 C3N-00149 . . . . . . . . . 2.10 . D . . U . . . . 0.272 T T . 0.129 0.528 0.088 . T . D T T T 2.954 23.300 0.647 N . 0.043 2.666 -0.094 2.065 0.434 0.062 0.061 0.078 0.090 0.908 5.670 4.530 1.622 1.312 0.756 0.038 0.026 0.100 187 . . . . FER1L5 97 1 74 26 0.26 TRUE TRUE +ENSG00000188219.14 . BCM GRCh38.p13 chr2 131218418 131218418 + G G T Missense_Mutation SNP ENST00000356920.9 exon1 c.G16T p.D6Y exonic ENSG00000188219.14 . nonsynonymous SNV ENSG00000188219.14:ENST00000356920.9:exon1:c.G16T:p.D6Y 2q21.1 C3N-00149 . . . . . . . . . 0.19 T T B B . N N T N 0.206 T T T 0.033 0.320 0.290 . T T T T T T 0.017 1.443 0.541 N N -1.237 0.202 -1.349 0.179 0.000 0.487 0.574 0.574 0.613 . . . -0.213 -1.466 -0.783 0.000 0.000 0.000 929 . . . . POTEE 166 0 135 68 0.334975369458128 NA TRUE +ENSG00000115263.15 . BCM GRCh38.p13 chr2 162147353 162147353 + C C G Missense_Mutation SNP ENST00000418842.7 exon3 c.G254C p.R85T exonic ENSG00000115263.15 . nonsynonymous SNV ENSG00000115263.15:ENST00000418842.7:exon3:c.G254C:p.R85T 2q24.2 C3N-00149 . . . . . . . . . 3.20 T T B B N D L T N 0.228 T T T 0.072 0.476 0.728 0.050 T T T T T T 3.688 25.400 0.891 D D -0.095 2.191 0.087 2.682 1.000 0.487 0.574 0.547 0.530 . 5.650 4.710 3.823 -0.237 0.599 1.000 0.779 0.930 428 . . . . GCG 83 0 69 34 0.330097087378641 TRUE TRUE +ENSG00000155744.9 . BCM GRCh38.p13 chr2 200992935 200992935 + A A C Missense_Mutation SNP ENST00000418596.7 exon9 c.T695G p.L232W exonic ENSG00000155744.9 . nonsynonymous SNV ENSG00000155744.9:ENST00000418596.7:exon9:c.T695G:p.L232W 2q33.1 C3N-00149 . . . . . . . . . 19.20 D D D D D D M T D 0.919 D D D 0.846 0.554 0.860 1.463 D D D D D D 4.181 28.500 0.964 D D 0.851 9.855 0.851 11.812 1.000 0.651 0.709 0.602 0.684 . 6.060 6.060 8.395 1.312 0.756 1.000 1.000 1.000 470 . . . . FAM126B 150 0 96 40 0.294117647058824 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142127 10142127 + G G T Nonsense_Mutation SNP ENST00000256474.3 exon1 c.G280T p.E94X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon1:c.G280T:p.E94X 3p25.3 C3N-00149 . . . . . . . . rs5030829 4.6 . . . . N A . . . 0.579 . . . . . . . . . D D . . 7.869 40 0.996 D N 0.889 10.757 0.732 8.395 1.000 0.442 0.522 0.522 0.373 . 5.160 4.230 2.206 1.002 0.586 1.000 0.999 0.998 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543353;OCCURENCE=1(soft_tissue),6(kidney),1(skin) VHL 331 0 155 159 0.506369426751592 TRUE TRUE +ENSG00000163513.19 . BCM GRCh38.p13 chr3 30691478 30691478 + G G T Missense_Mutation SNP ENST00000295754.10 exon7 c.G1583T p.R528L exonic ENSG00000163513.19 . nonsynonymous SNV ENSG00000163513.19:ENST00000295754.10:exon7:c.G1583T:p.R528L 3p24.1 C3N-00149 . . . . . . . . . 20.20 D D D D D D H D D 0.952 D D D 0.963 0.915 1.000 1.651 D D D D D D 4.588 32 0.999 D D 1.135 19.189 1.064 23.436 1.000 0.731 0.588 0.659 0.649 . 5.910 5.910 10.003 1.176 0.674 1.000 0.977 0.974 913 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV55450248;OCCURENCE=1(large_intestine),1(NS),1(pancreas) TGFBR2 158 0 91 102 0.528497409326425 TRUE TRUE +ENSG00000010327.10 . BCM GRCh38.p13 chr3 52516395 52516395 + A A T Missense_Mutation SNP ENST00000321725.10 exon39 c.A4184T p.Q1395L exonic ENSG00000010327.10 . nonsynonymous SNV ENSG00000010327.10:ENST00000321725.10:exon39:c.A4184T:p.Q1395L 3p21.1 C3N-00149 . . . . . . . . . 2.20 T T B B N N N D N 0.194 T T D 0.245 0.447 0.373 0.197 T T T T T T 0.280 4.055 0.881 N N -1.502 0.081 -1.490 0.112 0.958 0.672 0.578 0.578 0.711 . 4.890 -6.620 -2.263 -0.938 -0.619 0.000 0.051 0.306 83 EGF-like_domain . . . STAB1 41 0 20 20 0.5 TRUE TRUE +ENSG00000082684.16 . BCM GRCh38.p13 chr3 122939465 122939465 + T T C Missense_Mutation SNP ENST00000357599.8 exon5 c.A434G p.Y145C exonic ENSG00000082684.16 . nonsynonymous SNV ENSG00000082684.16:ENST00000357599.8:exon5:c.A434G:p.Y145C 3q21.1 C3N-00149 . . . . . . . . . 10.20 D T D D D D M T D 0.611 T T T 0.243 0.851 0.585 1.078 T T T T D D 3.635 25.200 0.998 D N 0.594 5.858 0.554 5.694 1.000 0.706 0.574 0.710 0.542 . 5.540 4.330 1.800 1.138 0.665 1.000 1.000 1.000 615 Sema_domain . . . SEMA5B 136 0 66 57 0.463414634146341 TRUE TRUE +ENSG00000164151.12 . BCM GRCh38.p13 chr5 5463073 5463073 + A A T Missense_Mutation SNP ENST00000296564.9 exon13 c.A3739T p.N1247Y exonic ENSG00000164151.12 . nonsynonymous SNV ENSG00000164151.12:ENST00000296564.9:exon13:c.A3739T:p.N1247Y 5p15.32 C3N-00149 . . . . . . . . . 0.18 T T P P . N . T N 0.193 T T T 0.100 0.135 0.043 0.412 T T T T T T 1.545 16.020 0.988 N N -0.736 0.752 -0.872 0.659 0.983 0.732 0.725 0.744 0.734 . 4.430 -1.180 0.474 1.312 0.691 0.000 0.002 0.331 763 . . . . ICE1 114 0 69 27 0.28125 TRUE TRUE +ENSG00000164190.19 . BCM GRCh38.p13 chr5 36955501 36955525 + TTACCTGCTACAACTACAAAGAGCC TTACCTGCTACAACTACAAAGAGCC - Frame_Shift_Del DEL ENST00000282516.13 exon3 c.94_118del p.L32Ffs*7 exonic ENSG00000164190.19 . frameshift deletion ENSG00000164190.19:ENST00000282516.13:exon3:c.94_118del:p.L32Ffs*7 5p13.2 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NIPBL 351 0 263 21 0.073943661971831 TRUE TRUE +ENSG00000082074.18 . BCM GRCh38.p13 chr5 39201908 39201908 + A A T Missense_Mutation SNP ENST00000351578.11 exon2 c.T1053A p.F351L exonic ENSG00000082074.18 . nonsynonymous SNV ENSG00000082074.18:ENST00000351578.11:exon2:c.T1053A:p.F351L 5p13.1 C3N-00149 . . . . . . . . . 1.19 T T B B N N . T D 0.244 T T T 0.113 0.120 0.369 . T T T T T T 0.890 10.320 0.872 N N -1.179 0.242 -1.292 0.214 1.000 0.615 0.634 0.574 0.564 . 5.930 -9.470 0.151 -0.043 0.756 0.000 0.058 0.976 742 . . . . FYB1 91 0 84 46 0.353846153846154 TRUE TRUE +ENSG00000113658.18 . BCM GRCh38.p13 chr5 136174583 136174583 + C C T Missense_Mutation SNP ENST00000545279.6 exon7 c.C1205T p.A402V exonic ENSG00000113658.18 . nonsynonymous SNV ENSG00000113658.18:ENST00000545279.6:exon7:c.C1205T:p.A402V 5q31.1 C3N-00149 . . . . . . . . . 14.18 T T . . D D L D D 0.343 D D D 0.499 0.635 0.740 1.067 D D D D D D 2.715 22.900 0.997 D N 0.177 3.203 0.373 4.171 1.000 0.707 0.654 0.725 0.714 . 6.170 6.170 4.955 1.026 0.599 1.000 0.987 0.997 733 SMAD_domain,_Dwarfin-type . . . SMAD5 112 2 101 44 0.303448275862069 TRUE TRUE +ENSG00000069018.19 . BCM GRCh38.p13 chr5 136357107 136357107 + G G A Missense_Mutation SNP ENST00000513104.6 exon2 c.C281T p.T94M exonic ENSG00000069018.19 . nonsynonymous SNV ENSG00000069018.19:ENST00000513104.6:exon2:c.C281T:p.T94M 5q31.1 C3N-00149 8.282e-06 0.0001 0 0 0 0 0 0 rs536224426 13.19 D . D P D D N T D 0.792 T T D 0.309 0.487 0.786 1.810 D T D D D D 3.988 26.900 0.995 D D 0.492 4.975 0.573 5.897 1.000 0.487 0.574 0.547 0.542 . 5.000 5.000 8.010 1.172 0.672 1.000 0.994 0.995 747 Ankyrin_repeat-containing_domain . . . TRPC7 134 0 104 18 0.147540983606557 TRUE NA +ENSG00000133710.16 . BCM GRCh38.p13 chr5 148072198 148072198 + C C A Missense_Mutation SNP ENST00000256084.8 exon4 c.C260A p.P87H exonic ENSG00000133710.16 . nonsynonymous SNV ENSG00000133710.16:ENST00000256084.8:exon4:c.C260A:p.P87H 5q32 C3N-00149 . . . . . . . . . 2.20 D D B B N N N T N 0.150 T T T 0.075 0.218 0.478 0.176 T T T T T T 0.823 9.628 0.945 N N -0.744 0.740 -0.807 0.748 0.995 0.638 0.574 0.653 0.564 . 3.600 2.720 0.083 0.060 0.599 0.000 0.000 0.001 840 . . . . SPINK5 304 0 300 101 0.251870324189526 TRUE TRUE +ENSG00000113742.14 . BCM GRCh38.p13 chr5 173890268 173890268 + T T C Missense_Mutation SNP ENST00000265085.10 exon1 c.T535C p.S179P exonic ENSG00000113742.14 . nonsynonymous SNV ENSG00000113742.14:ENST00000265085.10:exon1:c.T535C:p.S179P 5q35.2 C3N-00149 . . . . . . . . . 6.20 T T B B D D N T N 0.191 T T T 0.053 0.222 0.319 0.529 T T T T D D 2.615 22.700 0.921 D D -0.242 1.763 0.046 2.522 1.000 0.628 0.672 0.686 0.628 . 5.820 5.820 5.830 1.138 0.665 1.000 1.000 0.997 986 . . . . CPEB4 112 0 98 14 0.125 TRUE TRUE +ENSG00000204231.10 . BCM GRCh38.p13 chr6 33196014 33196014 + A A G Missense_Mutation SNP ENST00000374680.3 exon6 c.T1016C p.I339T exonic ENSG00000204231.10 . nonsynonymous SNV ENSG00000204231.10:ENST00000374680.3:exon6:c.T1016C:p.I339T 6p21.32 C3N-00149 . . . . . . . . . 16.19 D D D D D D M T D 0.860 T T D 0.803 0.756 0.880 2.386 D D D D D . 4.044 27.300 0.995 D D 0.626 6.203 0.599 6.216 1.000 0.707 0.725 0.723 0.714 . 5.240 4.090 9.317 1.296 0.738 1.000 1.000 1.000 814 Nuclear_hormone_receptor,_ligand-binding_domain . . . RXRB 116 0 58 44 0.431372549019608 TRUE TRUE +ENSG00000152822.14 . BCM GRCh38.p13 chr6 146399683 146399683 + G G - Frame_Shift_Del DEL ENST00000282753.6 exon7 c.2644delG p.A883Qfs*35 exonic ENSG00000152822.14 . frameshift deletion ENSG00000152822.14:ENST00000282753.6:exon7:c.2644delG:p.A883Qfs*35 6q24.3 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRM1 121 0 59 35 0.372340425531915 TRUE TRUE +ENSG00000106009.16 . BCM GRCh38.p13 chr7 2542129 2542129 + C C T Missense_Mutation SNP ENST00000340611.9 exon7 c.G1006A p.G336R exonic ENSG00000106009.16 . nonsynonymous SNV ENSG00000106009.16:ENST00000340611.9:exon7:c.G1006A:p.G336R 7p22.3 C3N-00149 6.934e-05 0 0.0019 0 0 0 0 0 rs530644659 12.20 T T D D D D M D D 0.285 D D D 0.373 0.382 0.890 0.218 T T D T T T 2.520 22.500 0.998 D N 0.239 3.482 0.099 2.730 1.000 0.672 0.702 0.644 0.711 . 5.420 5.420 0.440 1.002 0.596 0.000 0.079 0.114 946 . . . . BRAT1 45 0 55 16 0.225352112676056 TRUE NA +ENSG00000086232.13 . BCM GRCh38.p13 chr7 6044633 6044633 + C C G Missense_Mutation SNP ENST00000199389.11 exon7 c.G659C p.G220A exonic ENSG00000086232.13 . nonsynonymous SNV ENSG00000086232.13:ENST00000199389.11:exon7:c.G659C:p.G220A 7p22.1 C3N-00149 . . . . . . . . . 6.20 T T P P D D N T N 0.565 T T T 0.162 0.373 0.673 0.461 T T T T D D 3.401 24.400 0.998 D D 0.128 2.997 0.232 3.345 1.000 0.707 0.725 0.725 0.714 . 5.510 5.510 5.846 1.010 0.591 0.995 0.996 0.978 674 Protein_kinase_domain . . . EIF2AK1 190 1 105 55 0.34375 TRUE TRUE +ENSG00000146530.14 . BCM GRCh38.p13 chr7 12356314 12356314 + C C G Missense_Mutation SNP ENST00000275358.8 exon18 c.G3542C p.C1181S exonic ENSG00000146530.14 . nonsynonymous SNV ENSG00000146530.14:ENST00000275358.8:exon18:c.G3542C:p.C1181S 7p21.3 C3N-00149 . . . . . . . . . 17.20 D D D D D D M D D 0.804 D D D 0.742 0.865 0.657 . T T D D D T 3.843 26.000 0.994 D D 0.732 7.584 0.657 7.022 1.000 0.707 0.574 0.725 0.621 . 3.970 3.970 6.753 1.026 0.599 1.000 1.000 1.000 837 EGF-like_domain . . . VWDE 125 0 93 65 0.411392405063291 TRUE TRUE +ENSG00000158683.8 . BCM GRCh38.p13 chr7 47908230 47908230 + C C T Missense_Mutation SNP ENST00000289672.6 exon9 c.G1249A p.A417T exonic ENSG00000158683.8 . nonsynonymous SNV ENSG00000158683.8:ENST00000289672.6:exon9:c.G1249A:p.A417T 7p12.3 C3N-00149 . . . . . . . . . 2.20 D D P B N N L T N 0.287 T T T 0.055 0.474 0.339 0.098 T T T T T T 0.495 6.447 0.998 N N -0.328 1.546 -0.384 1.400 0.892 0.516 0.610 0.547 0.568 . 5.320 4.430 0.806 -0.231 -0.837 0.014 0.318 0.054 940 . . . . PKD1L1 129 0 119 20 0.143884892086331 TRUE NA +ENSG00000127993.16 . BCM GRCh38.p13 chr7 92534682 92534682 + T T - Frame_Shift_Del DEL ENST00000265732.10 exon4 c.729delT p.L244Cfs*6 exonic ENSG00000127993.16 . frameshift deletion ENSG00000127993.16:ENST00000265732.10:exon4:c.729delT:p.L244Cfs*6 7q21.2 C3N-00149 1.657e-05 0 0 0 0 2.999e-05 0 0 rs776201149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM48 231 0 155 82 0.345991561181435 TRUE NA +ENSG00000008311.15 . BCM GRCh38.p13 chr7 122091759 122091759 + G G A Missense_Mutation SNP ENST00000417368.7 exon18 c.C1960T p.P654S exonic ENSG00000008311.15 . nonsynonymous SNV ENSG00000008311.15:ENST00000417368.7:exon18:c.C1960T:p.P654S 7q31.32 C3N-00149 . . . . . . . . . 14.20 D T D D D D L T D 0.912 T T D 0.628 0.793 0.801 0.634 T D D D D D 4.176 28.400 0.999 D D 0.801 8.797 0.816 10.605 1.000 0.732 0.588 0.699 0.728 . 5.580 5.580 9.602 1.176 0.676 1.000 0.987 0.989 558 Saccharopine_dehydrogenase,_C-terminal . . . AASS 202 0 276 47 0.145510835913313 TRUE TRUE +ENSG00000002726.20 . BCM GRCh38.p13 chr7 150857647 150857647 + G G A Missense_Mutation SNP ENST00000493429.5 exon4 c.G1177A p.E393K exonic ENSG00000002726.20 . nonsynonymous SNV ENSG00000002726.20:ENST00000493429.5:exon4:c.G1177A:p.E393K 7q36.1 C3N-00149 . . . . . . . . rs867599399 4.20 T T B B N D M T N 0.255 T T T 0.040 0.558 0.161 0.253 T T T T D T 2.364 21.900 0.995 D N -0.518 1.142 -0.412 1.350 0.838 0.497 0.590 0.547 0.542 . 5.490 3.600 1.915 1.164 0.662 0.987 0.982 0.956 802 Copper_amine_oxidase,_catalytic_domain . . ID=COSV104539736;OCCURENCE=1(skin) AOC1 174 0 182 21 0.103448275862069 TRUE NA +ENSG00000168300.14 . BCM GRCh38.p13 chr8 51861031 51861031 + A A T Missense_Mutation SNP ENST00000522514.6 exon2 c.T121A p.Y41N exonic ENSG00000168300.14 . nonsynonymous SNV ENSG00000168300.14:ENST00000522514.6:exon2:c.T121A:p.Y41N 8q11.23 C3N-00149 . . . . . . . . . 15.20 D D D P D D M T D 0.964 T T D 0.689 0.681 0.854 2.840 D T D D D D 4.100 27.800 0.991 D D 0.867 10.241 0.829 11.043 1.000 0.706 0.805 0.710 0.714 . 5.480 5.480 8.786 1.312 0.756 1.000 1.000 0.997 917 . . . . PCMTD1 214 0 158 66 0.294642857142857 TRUE TRUE +ENSG00000164941.14 . BCM GRCh38.p13 chr8 94828976 94828976 + A A G Missense_Mutation SNP ENST00000523731.6 exon5 c.A520G p.M174V exonic ENSG00000164941.14 . nonsynonymous SNV ENSG00000164941.14:ENST00000523731.6:exon5:c.A520G:p.M174V 8q22.1 C3N-00149 . . . . . . . . . 7.19 D D B B N D L . N 0.465 T T T 0.338 0.161 0.423 0.236 T T D D D T 1.992 19.200 0.923 D N 0.360 4.107 0.372 4.166 1.000 0.707 0.654 0.725 0.711 . 5.170 5.170 3.533 1.312 0.691 0.998 0.992 0.991 413 . . . . INTS8 65 0 31 9 0.225 TRUE NA +ENSG00000097007.19 . BCM GRCh38.p13 chr9 130885306 130885306 + A A C Missense_Mutation SNP ENST00000318560.6 exon11 c.A3016C p.I1006L exonic ENSG00000097007.19 . nonsynonymous SNV ENSG00000097007.19:ENST00000318560.6:exon11:c.A3016C:p.I1006L 9q34.12 C3N-00149 . . . . . . . . . 7.20 D T P B D D L T N 0.527 T T D 0.297 0.542 0.676 0.210 T T T T D T 3.210 23.900 0.990 D D 0.186 3.243 0.324 3.862 1.000 0.707 0.702 0.702 0.714 . 5.260 5.260 7.372 1.312 0.756 1.000 1.000 0.988 667 F-actin_binding . . . ABL1 128 0 44 85 0.65891472868217 TRUE TRUE +ENSG00000148484.18 . BCM GRCh38.p13 chr10 16754972 16754972 + G G C Missense_Mutation SNP ENST00000345264.10 exon5 c.C299G p.T100S exonic ENSG00000148484.18 . nonsynonymous SNV ENSG00000148484.18:ENST00000345264.10:exon5:c.C299G:p.T100S 10p13 C3N-00149 . . . . . . . . . 4.20 T T B B D D N T N 0.143 T T T 0.075 0.273 0.530 0.261 T T T T D T 1.922 18.660 0.717 D N -0.304 1.605 -0.071 2.132 0.921 0.706 0.725 0.659 0.613 . 5.160 5.160 3.772 1.176 0.676 1.000 0.790 0.951 942 . . . . RSU1 82 0 78 18 0.1875 NA TRUE +ENSG00000099256.19 . BCM GRCh38.p13 chr10 24937231 24937231 + G G A Nonsense_Mutation SNP ENST00000320152.11 exon3 c.C292T p.R98X exonic ENSG00000099256.19 . stopgain ENSG00000099256.19:ENST00000320152.11:exon3:c.C292T:p.R98X 10p12.1 C3N-00149 8.247e-05 9.615e-05 0 0 0 0.0001 0 0 rs200345966 3.6 . . . . N D . . . 0.309 . . . . . . . . . D D . . 5.548 34 0.998 N N 0.123 2.979 -0.165 1.873 0.003 0.706 0.588 0.710 0.613 . 5.630 -0.455 0.611 0.186 0.676 0.137 0.993 0.992 500 Phosphoribosyltransferase_domain . . ID=COSV60777944;OCCURENCE=1(large_intestine),1(endometrium) PRTFDC1 106 0 85 23 0.212962962962963 TRUE TRUE +ENSG00000156515.23 . BCM GRCh38.p13 chr10 69398609 69398609 + T T C Missense_Mutation SNP ENST00000359426.6 exon17 c.T2390C p.L797P exonic ENSG00000156515.23 . nonsynonymous SNV ENSG00000156515.23:ENST00000359426.6:exon17:c.T2390C:p.L797P 10q22.1 C3N-00149 . . . . . . . . . 19.20 D T D D D D M D D 0.810 D D D 0.906 . 0.957 . D D D D D D 3.919 26.500 0.999 D D 0.574 5.667 0.611 6.365 1.000 0.719 0.723 0.644 0.714 . 5.690 5.690 8.017 1.138 0.665 1.000 0.994 0.990 643 Hexokinase,_C-terminal . . . HK1 327 0 319 119 0.271689497716895 TRUE TRUE +ENSG00000107816.17 . BCM GRCh38.p13 chr10 101005689 101005689 + C C T Missense_Mutation SNP ENST00000370220.1 exon3 c.C1300T p.P434S exonic ENSG00000107816.17 . nonsynonymous SNV ENSG00000107816.17:ENST00000370220.1:exon3:c.C1300T:p.P434S 10q24.31 C3N-00149 . . . . . . . . . 13.20 D D D D D D M T D 0.546 T T D 0.234 0.292 0.426 0.915 T T T T D D 3.885 26.300 0.999 D D 0.786 8.521 0.755 8.913 1.000 0.707 0.725 0.725 0.711 . 5.510 5.510 7.858 0.962 0.524 1.000 0.919 0.922 554 . . . . LZTS2 48 0 38 20 0.344827586206897 TRUE TRUE +ENSG00000166833.21 . BCM GRCh38.p13 chr11 19933593 19933593 + C C A Missense_Mutation SNP ENST00000396087.7 exon8 c.C1418A p.T473N exonic ENSG00000166833.21 . nonsynonymous SNV ENSG00000166833.21:ENST00000396087.7:exon8:c.C1418A:p.T473N 11p15.1 C3N-00149 . . . . . . . . . 0.20 T T B B N N N T N 0.069 T T T 0.127 0.068 0.068 0.177 T T T T T T 0.044 1.639 0.114 N N -0.905 0.514 -0.837 0.706 0.997 0.719 0.588 0.723 0.636 . 5.420 3.380 1.400 0.123 0.599 0.005 0.001 0.003 892 . . . . NAV2 56 0 34 26 0.433333333333333 TRUE TRUE +ENSG00000185238.13 . BCM GRCh38.p13 chr11 20493964 20493964 + A A T Missense_Mutation SNP ENST00000331079.11 exon14 c.A1393T p.N465Y exonic ENSG00000185238.13 . nonsynonymous SNV ENSG00000185238.13:ENST00000331079.11:exon14:c.A1393T:p.N465Y 11p15.1 C3N-00149 . . . . . . . . . 8.20 D D P B N D M T D 0.153 T T T 0.195 0.455 0.796 0.138 T D T T D T 2.975 23.400 0.986 D N 0.244 3.503 0.341 3.964 0.997 0.706 0.709 0.659 0.613 . 5.520 5.520 3.954 1.308 0.684 0.999 1.000 0.998 707 . . . . PRMT3 46 0 46 10 0.178571428571429 TRUE TRUE +ENSG00000068976.14 . BCM GRCh38.p13 chr11 64759868 64759868 + T T - Frame_Shift_Del DEL ENST00000164139.4 exon1 c.31delA p.R11Efs*15 exonic ENSG00000068976.14 . frameshift deletion ENSG00000068976.14:ENST00000164139.4:exon1:c.31delA:p.R11Efs*15 11q13.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PYGM 139 0 111 47 0.29746835443038 TRUE TRUE +ENSG00000110723.12 . BCM GRCh38.p13 chr11 108512064 108512064 + T T - Frame_Shift_Del DEL ENST00000265843.9 exon6 c.3443delA p.D1148Vfs*5 exonic ENSG00000110723.12 . frameshift deletion ENSG00000110723.12:ENST00000265843.9:exon6:c.3443delA:p.D1148Vfs*5 11q22.3 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXPH5 47 0 26 16 0.380952380952381 TRUE TRUE +ENSG00000135506.16 . BCM GRCh38.p13 chr12 57720480 57720480 + G G A Missense_Mutation SNP ENST00000315970.12 exon14 c.G1840A p.D614N exonic ENSG00000135506.16 . nonsynonymous SNV ENSG00000135506.16:ENST00000315970.12:exon14:c.G1840A:p.D614N 12q14.1 C3N-00149 . . . . . . . . . 13.20 D D D D D D M T D 0.847 T T D 0.241 0.470 0.766 0.948 T T T T D D 4.203 28.700 0.999 D D 0.619 6.120 0.624 6.535 1.000 0.706 0.702 0.710 0.714 . 5.540 5.540 7.376 1.176 0.676 1.000 0.994 0.589 132 . . . . OS9 163 0 138 40 0.224719101123595 TRUE TRUE +ENSG00000173093.13 . BCM GRCh38.p13 chr12 110893109 110893109 + T T G Missense_Mutation SNP ENST00000308208.10 exon9 c.T1108G p.L370V exonic ENSG00000173093.13 . nonsynonymous SNV ENSG00000173093.13:ENST00000308208.10:exon9:c.T1108G:p.L370V 12q24.11 C3N-00149 . . . . . . . . . 1.20 T D B B N N L T N 0.150 T T T 0.006 0.116 0.030 0.052 T T T T T T 0.045 1.642 0.738 N N -1.556 0.065 -1.615 0.071 1.000 0.497 0.590 0.573 0.632 . 5.470 -7.930 -0.788 -1.571 -0.268 0.000 0.000 0.010 150 . . . . CCDC63 169 0 102 31 0.233082706766917 TRUE TRUE +ENSG00000185344.14 . BCM GRCh38.p13 chr12 123735605 123735605 + G G A Missense_Mutation SNP ENST00000330342.8 exon8 c.G806A p.R269H exonic ENSG00000185344.14 . nonsynonymous SNV ENSG00000185344.14:ENST00000330342.8:exon8:c.G806A:p.R269H 12q24.31 C3N-00149 . . . . . . . . . 19.20 D D D D D D H D D 0.862 D D D 0.705 0.695 0.834 0.763 T D D D D D 3.966 26.800 0.999 D D 0.829 9.383 0.706 7.858 1.000 0.707 0.702 0.725 0.636 . 5.970 5.970 10.003 1.167 0.618 1.000 0.141 0.155 345 . . . . ATP6V0A2 322 1 258 109 0.29700272479564 TRUE NA +ENSG00000198598.6 . BCM GRCh38.p13 chr12 131845304 131845304 + C C A Nonsense_Mutation SNP ENST00000360564.5 exon8 c.C1059A p.Y353X exonic ENSG00000198598.6 . stopgain ENSG00000198598.6:ENST00000360564.5:exon8:c.C1059A:p.Y353X 12q24.33 C3N-00149 . . . . . . . . . 5.6 . . . . D D . . . 0.790 . . . . . . . . . D D . . 8.375 42 0.993 D N 0.441 4.610 0.237 3.368 0.014 0.696 0.588 0.723 0.655 . 4.580 1.150 0.867 -0.421 -0.266 1.000 0.996 0.989 982 Hemopexin-like_domain . . . MMP17 59 0 35 27 0.435483870967742 TRUE NA +ENSG00000102531.16 . BCM GRCh38.p13 chr13 49131359 49131359 + G G C Missense_Mutation SNP ENST00000492622.6 exon5 c.G475C p.V159L exonic ENSG00000102531.16 . nonsynonymous SNV ENSG00000102531.16:ENST00000492622.6:exon5:c.G475C:p.V159L 13q14.2 C3N-00149 . . . . . . . . . 4.20 T T B B D D L T N 0.663 T T T 0.038 0.345 0.345 0.212 T T T T T T 2.392 22.100 0.984 D D -0.046 2.351 0.166 3.024 1.000 0.719 0.702 0.725 0.734 . 5.730 5.730 3.708 1.176 0.618 1.000 1.000 0.996 466 . . . . FNDC3A 180 0 137 16 0.104575163398693 TRUE TRUE +ENSG00000185246.18 . BCM GRCh38.p13 chr14 45109637 45109637 + G G C Missense_Mutation SNP ENST00000355765.11 exon8 c.G1033C p.V345L exonic ENSG00000185246.18 . nonsynonymous SNV ENSG00000185246.18:ENST00000355765.11:exon8:c.G1033C:p.V345L 14q21.2 C3N-00149 . . . . . . . . . 14.20 D D B B D D H T D 0.640 T T D 0.341 0.660 0.545 1.282 D T D D D D 3.296 24.100 0.997 D D 0.615 6.080 0.664 7.123 1.000 0.732 0.725 0.744 0.714 . 5.570 5.570 9.763 1.176 0.618 1.000 1.000 0.997 830 . . . . PRPF39 97 0 55 3 0.0517241379310345 TRUE NA +ENSG00000125384.7 . BCM GRCh38.p13 chr14 52315059 52315059 + C C A Missense_Mutation SNP ENST00000245457.6 exon1 c.C511A p.P171T exonic ENSG00000125384.7 . nonsynonymous SNV ENSG00000125384.7:ENST00000245457.6:exon1:c.C511A:p.P171T 14q22.1 C3N-00149 . . . . . . . . . 14.20 D T D P D D M T D 0.898 T T D 0.481 0.881 0.784 1.847 T D D D D D 3.901 26.400 0.998 D D 0.717 7.365 0.697 7.700 1.000 0.652 0.609 0.641 0.555 . 4.990 4.990 7.905 1.026 0.599 1.000 0.999 0.891 916 GPCR,_rhodopsin-like,_7TM . . . PTGER2 127 0 74 4 0.0512820512820513 TRUE NA +ENSG00000133985.3 . BCM GRCh38.p13 chr14 70667650 70667650 + A A T Nonsense_Mutation SNP ENST00000256367.3 exon2 c.A493T p.K165X exonic ENSG00000133985.3 . stopgain ENSG00000133985.3:ENST00000256367.3:exon2:c.A493T:p.K165X 14q24.2 C3N-00149 . . . . . . . . . 5.6 . . . . D A . . . 0.465 . . . . . . . . . D D . . 7.765 39 0.994 D N 0.800 8.789 0.633 6.665 1.000 0.757 0.858 0.702 0.564 . 5.020 5.020 8.931 1.292 0.733 1.000 0.999 0.997 845 Tetratricopeptide_repeat-containing_domain . . . TTC9 119 0 61 39 0.39 TRUE TRUE +ENSG00000174450.12 . BCM GRCh38.p13 chr15 23441075 23441075 + C C A Missense_Mutation SNP ENST00000567107.6 exon8 c.G1400T p.R467L exonic ENSG00000174450.12 . nonsynonymous SNV ENSG00000174450.12:ENST00000567107.6:exon8:c.G1400T:p.R467L 15q11.2 C3N-00149 . . . . . . . . . 3.19 T T B B . N N D D 0.150 T T T 0.012 0.339 0.236 0.014 T T T T T D 0.523 6.748 0.598 N N -1.186 0.237 -1.355 0.176 0.000 0.487 0.574 0.573 0.564 . . . -3.744 -1.440 -1.604 0.000 0.000 0.000 994 . . . . GOLGA6L2 197 0 215 19 0.0811965811965812 TRUE TRUE +ENSG00000196557.13 . BCM GRCh38.p13 chr16 1220701 1220701 + C C T Missense_Mutation SNP ENST00000348261.11 exon35 c.C6769T p.R2257W exonic ENSG00000196557.13 . nonsynonymous SNV ENSG00000196557.13:ENST00000348261.11:exon35:c.C6769T:p.R2257W 16p13.3 C3N-00149 1.95e-05 0 0 0 0 3.603e-05 0 0 rs770202267 8.20 T D B B U N L D D 0.347 D D D 0.392 0.375 0.806 . T T T D D T 2.061 19.720 0.989 N N -0.745 0.739 -0.798 0.760 0.133 0.696 0.547 0.723 0.613 . 4.190 1.150 1.533 0.049 0.537 0.991 0.136 0.648 929 . . . . CACNA1H 129 0 106 49 0.316129032258064 TRUE NA +ENSG00000138834.13 . BCM GRCh38.p13 chr16 1768280 1768280 + G G T Missense_Mutation SNP ENST00000250894.8 exon30 c.G3641T p.R1214M exonic ENSG00000138834.13 . nonsynonymous SNV ENSG00000138834.13:ENST00000250894.8:exon30:c.G3641T:p.R1214M 16p13.3 C3N-00149 . . . . . . . . . 4.20 D D B B N N L T N 0.393 T T T 0.061 0.301 0.329 0.796 T T T T T D 2.371 22.000 0.852 D N -0.648 0.902 -0.650 0.973 1.000 0.707 0.698 0.607 0.714 . 4.460 -0.833 2.828 0.213 -0.116 1.000 0.090 0.060 561 . . . . MAPK8IP3 129 0 95 21 0.181034482758621 TRUE TRUE +ENSG00000180185.11 . BCM GRCh38.p13 chr16 1827442 1827442 + G G T Missense_Mutation SNP ENST00000427358.3 exon1 c.G213T p.E71D exonic ENSG00000180185.11 . nonsynonymous SNV ENSG00000180185.11:ENST00000427358.3:exon1:c.G213T:p.E71D 16p13.3 C3N-00149 . . . . . . . . . 19.20 D D D D D D H D D 0.857 D D D 0.907 0.906 0.992 0.617 T D D D D D 3.742 25.600 0.998 D D 0.880 10.554 0.712 7.993 1.000 0.442 0.522 0.522 0.562 . 4.530 3.550 1.868 1.175 0.674 1.000 0.995 0.970 628 Fumarylacetoacetase-like,_C-terminal . . . FAHD1 85 0 91 5 0.0520833333333333 TRUE NA +ENSG00000077238.14 . BCM GRCh38.p13 chr16 27358978 27358978 + T T C Missense_Mutation SNP ENST00000395762.7 exon9 c.T833C p.I278T exonic ENSG00000077238.14 . nonsynonymous SNV ENSG00000077238.14:ENST00000395762.7:exon9:c.T833C:p.I278T 16p12.1 C3N-00149 . . . . . . . . . 4.20 D D B B N D L T N 0.291 T T T 0.088 0.331 0.301 0.202 T T T T T T 2.379 22.000 0.947 D N -0.222 1.817 -0.119 1.995 1.000 0.722 0.702 0.710 0.735 . 5.490 5.490 3.504 1.138 0.665 0.960 0.033 0.003 906 . . . . IL4R 134 0 137 44 0.243093922651934 TRUE TRUE +ENSG00000140937.14 . BCM GRCh38.p13 chr16 64998679 64998679 + T T A Missense_Mutation SNP ENST00000268603.9 exon4 c.A406T p.N136Y exonic ENSG00000140937.14 . nonsynonymous SNV ENSG00000140937.14:ENST00000268603.9:exon4:c.A406T:p.N136Y 16q21 C3N-00149 . . . . . . . . . 15.20 D D D D D D M T D 0.694 T T D 0.466 0.490 0.822 2.082 T T D D D D 3.968 26.800 0.995 D D 0.811 9.007 0.772 9.357 1.000 0.707 0.574 0.659 0.714 . 5.770 5.770 3.482 1.138 0.665 1.000 0.998 0.986 421 Cadherin-like . . . CDH11 376 1 334 88 0.208530805687204 TRUE TRUE +ENSG00000154263.17 . BCM GRCh38.p13 chr17 69222600 69222600 + G G T Missense_Mutation SNP ENST00000269081.8 exon5 c.C132A p.F44L exonic ENSG00000154263.17 . nonsynonymous SNV ENSG00000154263.17:ENST00000269081.8:exon5:c.C132A:p.F44L 17q24.3 C3N-00149 . . . . . . . . . 10.19 D T D D . N M D D 0.378 D D D 0.231 0.642 0.727 0.134 T T T T D T 1.324 14.560 0.950 N N -0.762 0.711 -1.053 0.426 0.000 0.554 0.588 0.574 0.613 . 3.910 -1.520 0.204 -1.367 -1.560 0.208 0.000 0.001 916 . . . . ABCA10 59 0 51 3 0.0555555555555556 TRUE NA +ENSG00000179604.10 . BCM GRCh38.p13 chr17 73285528 73285528 + A A G Missense_Mutation SNP ENST00000335793.4 exon2 c.T973C p.F325L exonic ENSG00000179604.10 . nonsynonymous SNV ENSG00000179604.10:ENST00000335793.4:exon2:c.T973C:p.F325L 17q25.1 C3N-00149 . . . . . . . . . 1.9 . . . . . D . . . 0.175 . . T . . 0.456 . . T T T T T 2.022 19.420 0.905 N N -0.418 1.345 -0.263 1.642 0.994 0.644 0.654 0.688 0.636 . 4.290 3.160 1.450 1.298 0.674 0.806 0.475 0.641 487 . . . . CDC42EP4 63 0 47 19 0.287878787878788 TRUE TRUE +ENSG00000161526.15 . BCM GRCh38.p13 chr17 75704770 75704770 + A A T Missense_Mutation SNP ENST00000584667.6 exon9 c.A616T p.I206F exonic ENSG00000161526.15 . nonsynonymous SNV ENSG00000161526.15:ENST00000584667.6:exon9:c.A616T:p.I206F 17q25.1 C3N-00149 . . . . . . . . . 8.17 . D B B D D L . . 0.316 T T D 0.220 0.523 0.529 1.748 T T T T D D 3.120 23.700 0.974 D D 0.150 3.089 0.200 3.184 1.000 0.707 0.702 0.702 0.714 . 5.650 3.460 3.387 -0.044 -0.045 1.000 0.995 0.986 976 . . . . SAP30BP 153 0 159 27 0.145161290322581 TRUE TRUE +ENSG00000074657.13 . BCM GRCh38.p13 chr18 58981589 58981589 + A A T Missense_Mutation SNP ENST00000336078.8 exon10 c.A3383T p.E1128V exonic ENSG00000074657.13 . nonsynonymous SNV ENSG00000074657.13:ENST00000336078.8:exon10:c.A3383T:p.E1128V 18q21.32 C3N-00149 . . . . . . . . . 9.20 T D B B D D M T N 0.500 T T D 0.116 0.243 0.082 0.752 T T T T D D 2.492 22.400 0.980 D D -0.245 1.754 -0.105 2.032 1.000 0.672 0.624 0.702 0.636 . 5.400 5.400 4.362 1.207 0.756 1.000 0.328 0.013 831 . . . . ZNF532 279 0 177 31 0.149038461538462 TRUE TRUE +ENSG00000074842.8 . BCM GRCh38.p13 chr19 4670268 4670268 + C C G Missense_Mutation SNP ENST00000262947.8 exon1 c.G67C p.A23P exonic ENSG00000074842.8 . nonsynonymous SNV ENSG00000074842.8:ENST00000262947.8:exon1:c.G67C:p.A23P 19p13.3 C3N-00149 . . . . . . . . . 7.18 T T D D U D . T N 0.819 T T D 0.356 0.790 0.055 1.509 . T D D D T 2.428 22.200 0.995 N N 0.118 2.960 0.023 2.439 1.000 0.442 0.522 0.522 0.562 . 4.840 4.840 1.253 0.871 0.519 0.009 0.003 0.049 958 . . . . MYDGF 127 0 81 25 0.235849056603774 TRUE TRUE +ENSG00000125730.17 . BCM GRCh38.p13 chr19 6682215 6682215 + T T A Missense_Mutation SNP ENST00000245907.11 exon34 c.A4187T p.Q1396L exonic ENSG00000125730.17 . nonsynonymous SNV ENSG00000125730.17:ENST00000245907.11:exon34:c.A4187T:p.Q1396L 19p13.3 C3N-00149 . . . . . . . . . 1.20 T T B B N N M T N 0.274 T T T 0.034 0.350 0.305 0.577 T T T T T T 1.445 15.380 0.831 N N -0.701 0.811 -0.681 0.927 0.878 0.706 0.588 0.710 0.542 . 5.660 2.090 0.726 -0.273 0.607 0.000 0.005 0.641 923 . . . . C3 378 0 257 100 0.280112044817927 TRUE TRUE +ENSG00000179218.14 . BCM GRCh38.p13 chr19 12938712 12938722 + CCTCGGCCTGG CCTCGGCCTGG - Frame_Shift_Del DEL ENST00000316448.10 exon1 c.33_43del p.L12Rfs*44 exonic ENSG00000179218.14 . frameshift deletion ENSG00000179218.14:ENST00000316448.10:exon1:c.33_43del:p.L12Rfs*44 19p13.13 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CALR 415 0 345 97 0.219457013574661 TRUE TRUE +ENSG00000130202.10 . BCM GRCh38.p13 chr19 44865619 44865619 + C C G Missense_Mutation SNP ENST00000252483.10 exon2 c.C437G p.P146R exonic ENSG00000130202.10 . nonsynonymous SNV ENSG00000130202.10:ENST00000252483.10:exon2:c.C437G:p.P146R 19q13.32 C3N-00149 . . . . . . . . . 14.19 D D D D D D . T D 0.724 D T D 0.325 0.436 0.873 1.241 T T D T D D 3.295 24.100 0.998 D D 0.745 7.805 0.643 6.814 0.991 0.707 0.588 0.698 0.714 . 4.740 4.740 4.921 0.928 0.577 0.998 0.840 0.745 825 Immunoglobulin_V-set_domain;Immunoglobulin_subtype . . . NECTIN2 53 0 30 17 0.361702127659574 TRUE TRUE +ENSG00000185453.13 . BCM GRCh38.p13 chr19 48195458 48195458 + A A G Missense_Mutation SNP ENST00000328759.11 exon4 c.A1394G p.E465G exonic ENSG00000185453.13 . nonsynonymous SNV ENSG00000185453.13:ENST00000328759.11:exon4:c.A1394G:p.E465G 19q13.33 C3N-00149 . . . . . . . . . 2.17 D D P B N N . . N 0.188 T T T 0.047 0.171 0.165 . . T T T T T 2.060 19.710 0.974 N N -0.206 1.859 -0.375 1.417 0.119 0.660 0.694 0.723 0.700 . 3.220 3.220 0.687 1.308 0.754 0.000 0.064 0.006 856 . . . . ZSWIM9 21 0 17 3 0.15 TRUE NA +ENSG00000104805.16 . BCM GRCh38.p13 chr19 48921190 48921190 + C C A Missense_Mutation SNP ENST00000405315.9 exon11 c.C1039A p.L347M exonic ENSG00000104805.16 . nonsynonymous SNV ENSG00000104805.16:ENST00000405315.9:exon11:c.C1039A:p.L347M 19q13.33 C3N-00149 . . . . . . . . . 10.20 T T D D D D L T N 0.340 T T D 0.099 0.229 0.523 0.960 D T T T D D 2.882 23.200 0.996 D D 0.468 4.800 0.411 4.439 0.986 0.707 0.702 0.702 0.714 . 4.110 4.110 3.312 1.026 0.549 1.000 0.983 0.965 744 . . . . NUCB1 85 0 76 4 0.05 TRUE NA +ENSG00000171456.20 . BCM GRCh38.p13 chr20 32432907 32432907 + G G C Missense_Mutation SNP ENST00000375687.10 exon11 c.G1007C p.R336T exonic ENSG00000171456.20 . nonsynonymous SNV ENSG00000171456.20:ENST00000375687.10:exon11:c.G1007C:p.R336T 20q11.21 C3N-00149 . . . . . . . . . 16.20 D D D D D D L T D 0.838 T T D 0.534 0.384 0.625 2.039 D D D D D D 4.075 27.500 0.982 D D 0.836 9.535 0.801 10.139 1.000 0.731 0.725 0.744 0.649 . 4.740 4.740 9.535 1.176 0.676 1.000 0.998 1.000 519 ASX_homology_domain . . . ASXL1 277 4 256 93 0.26647564469914 TRUE TRUE +ENSG00000101407.13 . BCM GRCh38.p13 chr20 38013524 38013524 + G G - Nonsense_Mutation SNP ENST00000373447.8 exon2 c.293delC p.S98* exonic ENSG00000101407.13 . stopgain ENSG00000101407.13:ENST00000373447.8:exon2:c.293delC:p.S98* 20q11.23 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTI1 233 1 205 65 0.240740740740741 TRUE TRUE +ENSG00000184221.13 . BCM GRCh38.p13 chr21 33070356 33070356 + G G A Missense_Mutation SNP ENST00000382348.2 exon1 c.G110A p.G37D exonic ENSG00000184221.13 . nonsynonymous SNV ENSG00000184221.13:ENST00000382348.2:exon1:c.G110A:p.G37D 21q22.11 C3N-00149 . . . . . . . . . 13.20 D T D D U D L D N 0.078 D D D 0.554 0.365 0.948 3.099 D T D D D T 3.300 24.100 0.998 D N 0.299 3.773 0.272 3.558 1.000 0.598 0.596 0.607 0.639 . 3.430 3.430 2.303 0.985 0.501 0.941 0.876 0.036 636 . . . ID=COSV60737713;OCCURENCE=2(thyroid) OLIG1 169 0 149 71 0.322727272727273 TRUE TRUE +ENSG00000099917.17 . BCM GRCh38.p13 chr22 20583356 20583356 + A A G Missense_Mutation SNP ENST00000263205.11 exon13 c.A1699G p.K567E exonic ENSG00000099917.17 . nonsynonymous SNV ENSG00000099917.17:ENST00000263205.11:exon13:c.A1699G:p.K567E 22q11.21 C3N-00149 . . . . . . . . . 15.19 D T D D D D M . D 0.836 T T T 0.679 0.227 0.438 1.445 D D D D D D 4.320 29.700 0.999 D D 0.795 8.680 0.781 9.582 1.000 0.707 0.698 0.723 0.714 . 5.520 5.520 8.874 1.312 0.756 1.000 1.000 1.000 . . . . . MED15 140 0 137 37 0.21264367816092 TRUE TRUE +ENSG00000100347.15 . BCM GRCh38.p13 chr22 43964470 43964470 + C C A Missense_Mutation SNP ENST00000350028.5 exon3 c.C151A p.H51N exonic ENSG00000100347.15 . nonsynonymous SNV ENSG00000100347.15:ENST00000350028.5:exon3:c.C151A:p.H51N 22q13.31 C3N-00149 . . . . . . . . . 6.20 T T B B D D N T N 0.451 T T T 0.162 0.516 0.298 0.303 T T T T D D 2.058 19.690 0.936 D D -0.359 1.475 -0.121 1.987 0.994 0.707 0.725 0.725 0.714 . 4.870 4.870 4.024 1.026 0.599 1.000 0.999 0.972 804 POTRA_domain . . . SAMM50 65 1 53 27 0.3375 TRUE TRUE +ENSG00000075218.19 . BCM GRCh38.p13 chr22 46326499 46326499 + C C G Missense_Mutation SNP ENST00000454366.2 exon9 c.C1569G p.S523R exonic ENSG00000075218.19 . nonsynonymous SNV ENSG00000075218.19:ENST00000454366.2:exon9:c.C1569G:p.S523R 22q13.31 C3N-00149 . . . . . . . . . 2.15 D T . . N N . T N 0.193 T T T 0.037 . 0.055 0.517 T . T T D . 0.676 8.230 0.969 N N -1.127 0.283 -1.351 0.178 1.000 0.707 0.702 0.725 0.714 . 3.880 -7.520 -2.106 -0.297 -0.236 0.000 0.005 0.001 964 . . . . GTSE1 153 0 117 42 0.264150943396226 TRUE TRUE +ENSG00000198947.15 . BCM GRCh38.p13 chrX 31929646 31929646 + G G T Missense_Mutation SNP ENST00000357033.8 exon47 c.C6862A p.Q2288K exonic ENSG00000198947.15 . nonsynonymous SNV ENSG00000198947.15:ENST00000357033.8:exon47:c.C6862A:p.Q2288K Xp21.1 C3N-00149 . . . . . . . . rs967525950 3.18 T T B B U D . T N 0.204 T T D 0.094 0.545 0.302 0.019 T T T T T T 1.240 13.940 0.473 D . . . . . 1.000 . . . . . 5.150 5.150 2.288 1.176 0.676 1.000 1.000 0.995 912 . . . . DMD 388 0 310 114 0.268867924528302 TRUE NA +ENSG00000067445.21 . BCM GRCh38.p13 chrX 54929278 54929278 + A A T Missense_Mutation SNP ENST00000173898.12 exon12 c.A2554T p.T852S exonic ENSG00000067445.21 . nonsynonymous SNV ENSG00000067445.21:ENST00000173898.12:exon12:c.A2554T:p.T852S Xp11.21 C3N-00149 . . . . . . . . . 2.18 D T B B . N M T N 0.083 T T T 0.026 0.094 0.124 0.135 T T T T T T -0.080 0.913 0.890 N . . . . . 0.003 . . . . . 2.840 1.660 0.192 0.325 -0.051 0.000 0.078 0.004 203 . . . . TRO 117 0 92 38 0.292307692307692 TRUE TRUE +ENSG00000183035.13 . BCM GRCh38.p13 chrX 83874230 83874230 + G G T Missense_Mutation SNP ENST00000329312.5 exon4 c.G1522T p.D508Y exonic ENSG00000183035.13 . nonsynonymous SNV ENSG00000183035.13:ENST00000329312.5:exon4:c.G1522T:p.D508Y Xq21.1 C3N-00149 . . . . . . . . . 4.18 D D B B . N M T D 0.170 T T T 0.096 0.142 0.043 0.004 T T T T T T 0.392 5.342 0.734 N . . . . . 0.000 . . . . . 3.160 0.320 -0.197 -0.258 -0.699 0.001 0.006 0.002 620 . . . . CYLC1 107 0 126 19 0.131034482758621 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52402422 52402422 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000163930.10 ENST00000460680.6:exon17:c.2057-1G>C . . 3p21.1 C3N-00149 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.989 33 0.994 D . 1.131 18.999 0.973 17.279 1.000 0.284 0.279 0.254 0.221 0.989 5.520 5.520 7.867 1.026 0.599 1.000 0.907 0.697 68 . . . . BAP1 192 0 104 111 0.516279069767442 TRUE TRUE +ENSG00000164741.15 . BCM GRCh38.p13 chr8 13098398 13098398 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000164741.15 ENST00000276297.9:exon10:c.3167+1G>A . . 8p22 C3N-00149 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.475 34 0.996 D . 1.160 20.687 0.996 18.597 1.000 0.257 0.085 0.060 0.376 0.985 4.760 4.760 7.904 1.020 0.597 1.000 0.991 0.963 920 . . . . DLC1 73 0 61 14 0.186666666666667 TRUE TRUE +ENSG00000269713.7 . BCM GRCh38.p13 chr1 149059792 149059792 + C C A Silent SNP ENST00000615421.4 exon24 c.G2493T p.G831G exonic ENSG00000269713.7 . synonymous SNV ENSG00000269713.7:ENST00000615421.4:exon24:c.G2493T:p.G831G 1q21.2 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NBPF9 138 0 94 30 0.241935483870968 NA TRUE +ENSG00000144426.18 . BCM GRCh38.p13 chr2 203108001 203108001 + C C A Silent SNP ENST00000449802.5 exon13 c.C1675A p.R559R exonic ENSG00000144426.18 . synonymous SNV ENSG00000144426.18:ENST00000449802.5:exon13:c.C1675A:p.R559R 2q33.2 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NBEAL1 110 1 90 33 0.268292682926829 TRUE TRUE +ENSG00000144535.19 . BCM GRCh38.p13 chr2 232210359 232210359 + C C T Silent SNP ENST00000325385.11 exon10 c.C1158T p.T386T exonic ENSG00000144535.19 . synonymous SNV ENSG00000144535.19:ENST00000325385.11:exon10:c.C1158T:p.T386T 2q37.1 C3N-00149 4.14e-05 0 0 0.0002 0 4.495e-05 0 0 rs539081624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIS3L2 256 0 246 18 0.0681818181818182 TRUE NA +ENSG00000168385.18 . BCM GRCh38.p13 chr2 241326068 241326068 + C C A Silent SNP ENST00000391971.7 exon3 c.C85A p.R29R exonic ENSG00000168385.18 . synonymous SNV ENSG00000168385.18:ENST00000391971.7:exon3:c.C85A:p.R29R 2q37.3 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100764909;OCCURENCE=3(skin) SEPTIN2 149 1 99 33 0.25 TRUE TRUE +ENSG00000172869.14 . BCM GRCh38.p13 chr5 119196386 119196386 + G G T Silent SNP ENST00000311085.8 exon31 c.G7473T p.R2491R exonic ENSG00000172869.14 . synonymous SNV ENSG00000172869.14:ENST00000311085.8:exon31:c.G7473T:p.R2491R 5q23.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMXL1 155 0 90 53 0.370629370629371 TRUE TRUE +ENSG00000134516.18 . BCM GRCh38.p13 chr5 169714388 169714388 + T T C Silent SNP ENST00000520908.7 exon19 c.T1872C p.R624R exonic ENSG00000134516.18 . synonymous SNV ENSG00000134516.18:ENST00000520908.7:exon19:c.T1872C:p.R624R 5q35.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK2 100 0 65 87 0.572368421052632 TRUE TRUE +ENSG00000153310.19 . BCM GRCh38.p13 chr8 129862263 129862263 + T T C Silent SNP ENST00000519824.6 exon5 c.A267G p.K89K exonic ENSG00000153310.19 . synonymous SNV ENSG00000153310.19:ENST00000519824.6:exon5:c.A267G:p.K89K 8q24.21 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYRIB 212 0 129 74 0.364532019704433 TRUE TRUE +ENSG00000179057.13 . BCM GRCh38.p13 chr11 18714623 18714623 + C C T Silent SNP ENST00000513874.5 exon12 c.G1533A p.E511E exonic ENSG00000179057.13 . synonymous SNV ENSG00000179057.13:ENST00000513874.5:exon12:c.G1533A:p.E511E 11p15.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF22 112 0 125 25 0.166666666666667 TRUE NA +ENSG00000167985.7 . BCM GRCh38.p13 chr11 61437801 61437801 + C C T Silent SNP ENST00000301761.7 exon2 c.C213T p.L71L exonic ENSG00000167985.7;ENSG00000256591.5 . synonymous SNV ENSG00000167985.7:ENST00000301761.7:exon2:c.C213T:p.L71L,ENSG00000256591.5:ENST00000541135.5:exon2:c.C213T:p.L71L 11q12.2 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SDHAF2 308 0 286 85 0.22911051212938 TRUE TRUE +ENSG00000174276.7 . BCM GRCh38.p13 chr11 65117471 65117471 + G G A Silent SNP ENST00000310597.6 exon1 c.C183T p.P61P exonic ENSG00000174276.7 . synonymous SNV ENSG00000174276.7:ENST00000310597.6:exon1:c.C183T:p.P61P 11q13.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNHIT2 40 0 33 6 0.153846153846154 NA TRUE +ENSG00000134627.12 . BCM GRCh38.p13 chr11 94607582 94607582 + G G A Silent SNP ENST00000299001.11 exon14 c.G1782A p.K594K exonic ENSG00000134627.12 . synonymous SNV ENSG00000134627.12:ENST00000299001.11:exon14:c.G1782A:p.K594K 11q21 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIWIL4 308 0 259 76 0.226865671641791 TRUE TRUE +ENSG00000103202.13 . BCM GRCh38.p13 chr16 400246 400246 + G G A Silent SNP ENST00000219479.7 exon5 c.G468A p.V156V exonic ENSG00000103202.13 . synonymous SNV ENSG00000103202.13:ENST00000219479.7:exon5:c.G468A:p.V156V 16p13.3 C3N-00149 8.45e-06 0 0 0 0 1.549e-05 0 0 rs751493049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NME4 76 0 43 8 0.156862745098039 TRUE NA +ENSG00000130182.8 . BCM GRCh38.p13 chr16 3089676 3089676 + G G C Silent SNP ENST00000252463.6 exon5 c.C1593G p.R531R exonic ENSG00000130182.8 . synonymous SNV ENSG00000130182.8:ENST00000252463.6:exon5:c.C1593G:p.R531R 16p13.3 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSCAN10 128 0 66 20 0.232558139534884 TRUE TRUE +ENSG00000103429.11 . BCM GRCh38.p13 chr16 14644496 14644496 + G G T Silent SNP ENST00000261658.7 exon2 c.G150T p.G50G exonic ENSG00000103429.11 . synonymous SNV ENSG00000103429.11:ENST00000261658.7:exon2:c.G150T:p.G50G 16p13.12 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BFAR 347 2 339 140 0.292275574112735 TRUE TRUE +ENSG00000007174.18 . BCM GRCh38.p13 chr17 11783664 11783664 + G G T Silent SNP ENST00000262442.9 exon40 c.G7737T p.L2579L exonic ENSG00000007174.18 . synonymous SNV ENSG00000007174.18:ENST00000262442.9:exon40:c.G7737T:p.L2579L 17p12 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH9 118 0 57 29 0.337209302325581 TRUE TRUE +ENSG00000121053.6 . BCM GRCh38.p13 chr17 58194047 58194047 + C C T Silent SNP ENST00000225371.6 exon5 c.C549T p.F183F exonic ENSG00000121053.6 . synonymous SNV ENSG00000121053.6:ENST00000225371.6:exon5:c.C549T:p.F183F 17q22 C3N-00149 4.23e-05 0.0001 0 0 0 1.54e-05 0.0011 0.0001 rs566700181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56597149;OCCURENCE=1(lung),1(upper_aerodigestive_tract) EPX 275 0 191 97 0.336805555555556 TRUE TRUE +ENSG00000153885.14 . BCM GRCh38.p13 chr19 33812834 33812834 + C C T Silent SNP ENST00000430256.3 exon6 c.C738T p.S246S exonic ENSG00000153885.14 . synonymous SNV ENSG00000153885.14:ENST00000430256.3:exon6:c.C738T:p.S246S 19q13.11 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD15 34 0 25 3 0.107142857142857 TRUE NA +ENSG00000198862.14 . BCM GRCh38.p13 chr21 28959570 28959570 + G G A Silent SNP ENST00000361371.10 exon13 c.C2481T p.A827A exonic ENSG00000198862.14 . synonymous SNV ENSG00000198862.14:ENST00000361371.10:exon13:c.C2481T:p.A827A 21q21.3 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LTN1 221 0 146 95 0.394190871369295 TRUE TRUE +ENSG00000008735.14 . BCM GRCh38.p13 chr22 50603905 50603905 + G G A Silent SNP ENST00000329492.6 exon5 c.G606A p.P202P exonic ENSG00000008735.14 . synonymous SNV ENSG00000008735.14:ENST00000329492.6:exon5:c.G606A:p.P202P 22q13.33 C3N-00149 . . . . . . . . rs771836602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPK8IP2 78 0 78 10 0.113636363636364 TRUE TRUE +ENSG00000215864.6 . BCM GRCh38.p13 chr1 119837310 119837310 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000215864.6 . . . 1p12 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NBPF7 164 0 125 28 0.183006535947712 TRUE NA +ENSG00000153563.15 . BCM GRCh38.p13 chr2 86791682 86791682 + A A G Intron SNP NA NA NA NA intronic ENSG00000153563.15 . . . 2p11.2 C3N-00149 . . . . . . . . rs1048198929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD8A 59 0 45 14 0.23728813559322 TRUE NA +ENSG00000168758.11 . BCM GRCh38.p13 chr2 96861478 96861478 + G G A Intron SNP NA NA NA NA intronic ENSG00000168758.11 . . . 2q11.2 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEMA4C 61 0 54 20 0.27027027027027 TRUE NA +ENSG00000231160.10 . BCM GRCh38.p13 chr4 38627209 38627209 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000231160.10 . . . 4p14 C3N-00149 . . . . . . . . rs1048716567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLF3-AS1 92 0 59 24 0.289156626506024 TRUE NA +ENSG00000248969.1 . BCM GRCh38.p13 chr5 35788879 35788879 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000248969.1 . . . 5p13.2 C3N-00149 . . . . . . . . . 0.4 . . . . . N . . . . . . . . . . . . T . . . T 0.947 10.960 0.692 N . . . . . 1.000 0.119 0.063 0.063 0.137 0.225 5.650 3.580 1.895 0.138 0.599 0.003 0.238 0.939 511 . . . . AC137810.1 121 0 83 16 0.161616161616162 TRUE NA +ENSG00000204655.12 . BCM GRCh38.p13 chr6 29670954 29670954 + G G A Intron SNP NA NA NA NA intronic ENSG00000204655.12 . . . 6p22.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MOG 210 0 79 50 0.387596899224806 TRUE NA +ENSG00000173281.5 . BCM GRCh38.p13 chr8 9155039 9155039 + A A - IGR SNP NA NA NA NA intergenic ENSG00000173281.5;ENSG00000279949.1 dist=4381;dist=3024 . . 8p23.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R3B 152 0 77 38 0.330434782608696 TRUE NA +ENSG00000176148.16 . BCM GRCh38.p13 chr11 33072678 33072678 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000176148.16 ENST00000334274.9:c.*2G>A . . 11p13 C3N-00149 2.471e-05 0 0 0 0 4.496e-05 0 0 rs199505063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCP11L1 117 0 105 15 0.125 TRUE NA +ENSG00000270008.1 . BCM GRCh38.p13 chr13 32443159 32443159 + T T C IGR SNP NA NA NA NA intergenic ENSG00000270008.1;ENSG00000229800.1 dist=10205;dist=34115 . . 13q13.1 C3N-00149 . . . . . . . . . 0.18 T T B B N N . . N 0.102 T T T 0.016 0.167 0.375 0.033 T T T T T T 0.448 5.948 0.519 N N -0.860 0.572 -0.850 0.688 1.000 0.545 0.602 0.686 0.684 . 5.720 3.280 0.364 0.202 -0.123 0.001 0.208 0.137 822 . . . . AL137247.2 83 0 63 25 0.284090909090909 TRUE TRUE +ENSG00000012963.15 . BCM GRCh38.p13 chr14 93227461 93227461 + T T G 3'UTR SNP NA NA NA NA UTR3 ENSG00000012963.15 ENST00000013070.11:c.*426T>G . . 14q32.12 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBR7 408 0 265 163 0.380841121495327 TRUE NA +ENSG00000180957.18 . BCM GRCh38.p13 chr22 27858384 27858384 + - NA A Intron SNP NA NA NA NA intronic ENSG00000180957.18 . . . 22q12.1 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PITPNB NA NA NA NA NA NA NA +ENSG00000147041.12 . BCM GRCh38.p13 chrX 38103044 38103044 + G G A Intron SNP NA NA NA NA intronic ENSG00000147041.12;ENSG00000250349.3 . . . Xp11.4 C3N-00149 . . . . . . . . . 5.14 D T . . . D . T N 0.132 T T D 0.061 0.254 0.327 0.055 T . T T D T 3.161 23.800 0.996 D . . . . . 1.000 . . . . . 5.340 3.520 5.233 1.167 0.668 1.000 1.000 0.997 728 . . . . SYTL5 117 0 96 33 0.255813953488372 TRUE TRUE +ENSG00000174485.15 . BCM GRCh38.p13 chr15 65729631 65729632 + GC GC AT Unknown MNP ENST00000431932.6 exon10 c.1213_1214delinsAT p.A405I exonic ENSG00000174485.15 . nonframeshift substitution ENSG00000174485.15:ENST00000431932.6:exon10:c.1213_1214delinsAT:p.A405I 15q22.31 C3N-00149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DENND4A 151 1 110 25 0.185185185185185 TRUE NA +ENSG00000007968.7 . BCM GRCh38.p13 chr1 23516453 23516453 + C C G Missense_Mutation SNP ENST00000361729.3 exon6 c.G927C p.E309D exonic ENSG00000007968.7 . nonsynonymous SNV ENSG00000007968.7:ENST00000361729.3:exon6:c.G927C:p.E309D 1p36.12 C3N-00150 . . . . . . . . . 0.19 T T B B N N L T N 0.188 T T T 0.013 0.190 0.329 0.298 T T T T T . -0.634 0.061 0.758 N N -1.468 0.091 -1.490 0.112 0.846 0.672 0.702 0.659 0.492 . 4.900 -2.880 -1.070 -0.777 -0.237 0.000 0.051 0.076 364 . . . . E2F2 108 0 145 17 0.104938271604938 TRUE TRUE +ENSG00000118197.14 . BCM GRCh38.p13 chr1 200666066 200666071 + CACCTC CACCTC - In_Frame_Del DEL ENST00000331314.11 exon2 c.670_675del p.E224_V225del exonic ENSG00000118197.14 . nonframeshift deletion ENSG00000118197.14:ENST00000331314.11:exon2:c.670_675del:p.E224_V225del 1q32.1 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDX59 118 0 124 10 0.0746268656716418 TRUE TRUE +ENSG00000163435.16 . BCM GRCh38.p13 chr1 202011970 202011970 + G G C Missense_Mutation SNP ENST00000367284.10 exon3 c.G177C p.W59C exonic ENSG00000163435.16 . nonsynonymous SNV ENSG00000163435.16:ENST00000367284.10:exon3:c.G177C:p.W59C 1q32.1 C3N-00150 . . . . . . . . . 11.20 D D D D N D M T D 0.846 T T D 0.541 0.693 0.435 1.254 T T T T D T 4.070 27.500 0.991 D D 0.681 6.859 0.607 6.316 1.000 0.722 0.588 0.699 0.542 . 5.450 5.450 5.036 1.176 0.618 1.000 0.763 0.729 814 Pointed_domain . . . ELF3 105 0 142 23 0.139393939393939 TRUE TRUE +ENSG00000117222.14 . BCM GRCh38.p13 chr1 205105165 205105165 + C C A Missense_Mutation SNP ENST00000264515.11 exon4 c.G222T p.W74C exonic ENSG00000117222.14 . nonsynonymous SNV ENSG00000117222.14:ENST00000264515.11:exon4:c.G222T:p.W74C 1q32.1 C3N-00150 . . . . . . . . . 18.20 D D D D D D M T D 0.954 D D D 0.688 0.691 0.907 2.898 D T D D D D 4.477 32 0.993 D D 0.869 10.290 0.796 10.006 1.000 0.707 0.654 0.725 0.714 . 5.180 5.180 7.514 1.026 0.549 1.000 0.996 0.952 356 WD40-repeat-containing_domain . . ID=COSV52705946;OCCURENCE=1(upper_aerodigestive_tract) RBBP5 102 1 109 16 0.128 TRUE TRUE +ENSG00000115155.18 . BCM GRCh38.p13 chr2 26516445 26516445 + C C T Missense_Mutation SNP ENST00000272371.7 exon5 c.G482A p.R161Q exonic ENSG00000115155.18 . nonsynonymous SNV ENSG00000115155.18:ENST00000272371.7:exon5:c.G482A:p.R161Q 2p23.3 C3N-00150 9.075e-05 0.0002 0 0 0 0.0001 0 6.068e-05 rs141475833 2.20 T T P B N N N T N 0.141 T T D 0.263 . 0.848 0.214 T T T T T T 1.520 15.860 0.985 D N -0.129 2.086 -0.018 2.300 0.878 0.497 0.590 0.547 0.542 . 5.460 5.460 1.280 1.026 0.599 0.994 0.038 0.015 448 . . . ID=COSV55501505;OCCURENCE=1(large_intestine) OTOF 83 0 134 21 0.135483870967742 TRUE TRUE +ENSG00000075292.19 . BCM GRCh38.p13 chr2 71406230 71406230 + G G T Missense_Mutation SNP ENST00000264447.9 exon19 c.G3103T p.D1035Y exonic ENSG00000075292.19 . nonsynonymous SNV ENSG00000075292.19:ENST00000264447.9:exon19:c.G3103T:p.D1035Y 2p13.2 C3N-00150 . . . . . . . . . 9.20 D D D P N D M T D 0.639 T T T 0.255 0.498 0.068 0.200 T T T T D D 3.829 26.000 0.994 D N 0.146 3.073 0.128 2.853 0.648 0.707 0.725 0.725 0.714 . 5.470 2.730 3.410 -0.129 -0.818 1.000 0.998 0.987 633 . . . . ZNF638 120 0 50 10 0.166666666666667 TRUE TRUE +ENSG00000114993.17 . BCM GRCh38.p13 chr2 74427483 74427484 + TC TC - Frame_Shift_Del DEL ENST00000272430.10 exon10 c.1195_1196del p.E399Kfs*18 exonic ENSG00000114993.17 . frameshift deletion ENSG00000114993.17:ENST00000272430.10:exon10:c.1195_1196del:p.E399Kfs*18 2p13.1 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RTKN 199 0 242 17 0.0656370656370656 TRUE TRUE +ENSG00000188452.14 . BCM GRCh38.p13 chr2 181548548 181548548 + T T G Missense_Mutation SNP ENST00000339098.9 exon9 c.A1208C p.E403A exonic ENSG00000188452.14 . nonsynonymous SNV ENSG00000188452.14:ENST00000339098.9:exon9:c.A1208C:p.E403A 2q31.3 C3N-00150 . . . . . . . . . 5.20 T D D P N N M T D 0.372 T T T 0.100 0.201 0.588 0.116 T T T T D T 2.203 20.900 0.961 N N 0.052 2.701 0.018 2.422 0.836 0.487 0.574 0.547 0.564 . 5.580 4.430 0.787 0.204 0.665 0.002 0.530 0.502 823 . . . . CERKL 227 0 106 13 0.109243697478992 TRUE TRUE +ENSG00000244474.6 . BCM GRCh38.p13 chr2 233719174 233719174 + - NA GG Frame_Shift_Ins INS ENST00000373409.8 exon1 c.354_355insGG p.N119Gfs*20 exonic ENSG00000244474.6 . frameshift insertion ENSG00000244474.6:ENST00000373409.8:exon1:c.354_355insGG:p.N119Gfs*20 2q37.1 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UGT1A4 NA NA NA NA NA NA NA +ENSG00000134108.13 . BCM GRCh38.p13 chr3 5174388 5174388 + T T - Frame_Shift_Del DEL ENST00000256496.8 exon6 c.485delT p.S163Lfs*8 exonic ENSG00000134108.13 . frameshift deletion ENSG00000134108.13:ENST00000256496.8:exon6:c.485delT:p.S163Lfs*8 3p26.1 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARL8B 132 0 28 4 0.125 TRUE TRUE +ENSG00000163820.15 . BCM GRCh38.p13 chr3 45966507 45966507 + C C T Missense_Mutation SNP ENST00000296137.7 exon8 c.G2827A p.E943K exonic ENSG00000163820.15 . nonsynonymous SNV ENSG00000163820.15:ENST00000296137.7:exon8:c.G2827A:p.E943K 3p21.31 C3N-00150 . . . . . . . . . 8.20 D T P B D D M T N 0.411 T T D 0.387 0.369 0.872 0.463 T T D T D T 2.476 22.400 0.998 D N 0.301 3.785 0.303 3.732 1.000 0.490 0.714 0.609 0.636 . 5.210 5.210 4.321 1.026 0.599 0.998 0.017 0.020 390 . . . . FYCO1 41 0 73 9 0.109756097560976 TRUE TRUE +ENSG00000075785.13 . BCM GRCh38.p13 chr3 128806412 128806412 + G G T Missense_Mutation SNP ENST00000265062.8 exon4 c.G221T p.G74V exonic ENSG00000075785.13 . nonsynonymous SNV ENSG00000075785.13:ENST00000265062.8:exon4:c.G221T:p.G74V 3q21.3 C3N-00150 . . . . . . . . . 13.19 D T D P . D N T D 0.826 T T D 0.716 0.666 0.986 2.385 D D D D D D 3.962 26.700 0.994 D D 0.134 3.024 0.153 2.960 1.000 0.707 0.658 0.725 0.592 . 5.630 4.760 9.198 0.949 -0.135 1.000 0.976 0.893 594 Small_GTP-binding_protein_domain . . . RAB7A 149 0 179 26 0.126829268292683 TRUE TRUE +ENSG00000113971.20 . BCM GRCh38.p13 chr3 132682056 132682056 + A A T Missense_Mutation SNP ENST00000337331.10 exon27 c.T3847A p.L1283I exonic ENSG00000113971.20 . nonsynonymous SNV ENSG00000113971.20:ENST00000337331.10:exon27:c.T3847A:p.L1283I 3q22.1 C3N-00150 . . . . . . . . . 17.20 D D D D D D M T N 0.637 D D D 0.570 0.383 0.792 0.717 D T D D D D 3.640 25.200 0.996 D D 0.592 5.839 0.564 5.805 1.000 0.732 0.744 0.725 0.714 . 5.920 5.040 6.579 0.240 -0.137 1.000 0.991 0.988 864 Tetratricopeptide_repeat-containing_domain . . . NPHP3 258 0 143 19 0.117283950617284 TRUE TRUE +ENSG00000175066.16 . BCM GRCh38.p13 chr3 142198915 142198915 + G G A Nonsense_Mutation SNP ENST00000392993.7 exon5 c.C430T p.R144X exonic ENSG00000175066.16 . stopgain ENSG00000175066.16:ENST00000392993.7:exon5:c.C430T:p.R144X 3q23 C3N-00150 . . . . . . . . . 4.6 . . . . N A . . . 0.195 . . . . . . . . . D D . . 6.636 36 0.997 D N 0.645 6.414 0.454 4.768 0.001 0.651 0.634 0.659 0.684 . 5.330 3.220 1.544 1.160 0.671 0.998 0.904 0.730 177 Carbohydrate_kinase,_FGGY,_N-terminal . . . GK5 131 0 68 5 0.0684931506849315 TRUE NA +ENSG00000047365.12 . BCM GRCh38.p13 chr4 36158799 36158799 + G G C Missense_Mutation SNP ENST00000303965.9 exon15 c.C2683G p.L895V exonic ENSG00000047365.12 . nonsynonymous SNV ENSG00000047365.12:ENST00000303965.9:exon15:c.C2683G:p.L895V 4p14 C3N-00150 . . . . . . . . rs373281502 14.20 D T D P D D L D N 0.531 D D D 0.525 . 0.795 0.097 T T D D D D 2.694 22.800 0.998 D D 0.552 5.469 0.591 6.111 1.000 0.651 0.709 0.547 0.564 . 6.170 6.170 6.993 1.106 0.676 1.000 0.992 0.948 641 Pleckstrin_homology_domain . . . ARAP2 198 0 65 11 0.144736842105263 TRUE NA +ENSG00000113360.16 . BCM GRCh38.p13 chr5 31435812 31435812 + A A G Missense_Mutation SNP ENST00000511367.6 exon24 c.T2995C p.Y999H exonic ENSG00000113360.16 . nonsynonymous SNV ENSG00000113360.16:ENST00000511367.6:exon24:c.T2995C:p.Y999H 5p13.3 C3N-00150 . . . . . . . . . 19.20 D D D D D D L D D 0.780 D D D 0.834 0.730 0.922 2.106 D D D D D D 4.164 28.300 0.999 D D 0.751 7.895 0.779 9.536 1.000 0.732 0.744 0.725 0.714 . 5.920 5.920 8.964 1.312 0.756 1.000 0.999 0.994 752 Ribonuclease_III_domain . . . DROSHA 176 0 154 21 0.12 TRUE TRUE +ENSG00000197603.14 . BCM GRCh38.p13 chr5 37142356 37142357 + TG TG - Frame_Shift_Del DEL ENST00000425232.6 exon43 c.8423_8424del p.S2808Cfs*9 exonic ENSG00000197603.14 . frameshift deletion ENSG00000197603.14:ENST00000425232.6:exon43:c.8423_8424del:p.S2808Cfs*9 5p13.2 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPLANE1 95 0 82 9 0.0989010989010989 TRUE TRUE +ENSG00000044115.21 . BCM GRCh38.p13 chr5 138827713 138827713 + G G C Missense_Mutation SNP ENST00000302763.12 exon7 c.G1057C p.G353R exonic ENSG00000044115.21 . nonsynonymous SNV ENSG00000044115.21:ENST00000302763.12:exon7:c.G1057C:p.G353R 5q31.2 C3N-00150 8.273e-06 0 0 0 0 1.504e-05 0 0 rs758284033 12.20 D D B B D D L T N 0.714 T T D 0.161 0.415 0.835 1.147 D T D D D D 2.965 23.300 0.997 D D -0.018 2.448 0.142 2.916 1.000 0.707 0.725 0.725 0.714 . 5.740 4.860 6.942 1.176 0.676 1.000 1.000 0.992 . . . . . CTNNA1 204 0 234 29 0.110266159695817 TRUE NA +ENSG00000050748.17 . BCM GRCh38.p13 chr5 180249077 180249077 + C C G Missense_Mutation SNP ENST00000452135.6 exon6 c.G512C p.G171A exonic ENSG00000050748.17 . nonsynonymous SNV ENSG00000050748.17:ENST00000452135.6:exon6:c.G512C:p.G171A 5q35.3 C3N-00150 . . . . . . . . . 19.20 D D D P D D M D D 0.968 D D D 0.980 0.972 0.999 1.508 D D D D D D 3.823 25.900 0.998 D D 0.962 12.764 0.903 13.870 1.000 0.732 0.725 0.710 0.728 . 5.590 5.590 7.798 1.026 0.599 1.000 1.000 0.985 946 Protein_kinase_domain . . . MAPK9 126 0 125 20 0.137931034482759 TRUE TRUE +ENSG00000010017.13 . BCM GRCh38.p13 chr6 13634504 13634504 + T T A Missense_Mutation SNP ENST00000011619.6 exon11 c.A1722T p.E574D exonic ENSG00000010017.13 . nonsynonymous SNV ENSG00000010017.13:ENST00000011619.6:exon11:c.A1722T:p.E574D 6p23 C3N-00150 . . . . . . . . . 7.20 T T D P D D L T N 0.606 T T T 0.433 0.432 0.805 0.141 T T D T D D 2.581 22.600 0.984 D N -0.016 2.454 0.014 2.409 0.307 0.732 0.725 0.744 0.714 . 5.820 1.680 0.236 0.197 0.665 0.992 1.000 1.000 736 CTLH/CRA_C-terminal_to_LisH_motif_domain . . . RANBP9 119 0 55 5 0.0833333333333333 TRUE TRUE +ENSG00000112343.11 . BCM GRCh38.p13 chr6 25966914 25966914 + A A T Missense_Mutation SNP ENST00000357085.5 exon3 c.A392T p.D131V exonic ENSG00000112343.11 . nonsynonymous SNV ENSG00000112343.11:ENST00000357085.5:exon3:c.A392T:p.D131V 6p22.2 C3N-00150 . . . . . . . . . 8.20 D D P P N D M T D 0.395 T T D 0.275 0.689 0.813 0.950 T T T T D T 3.462 24.600 0.986 D N 0.189 3.254 0.100 2.736 1.000 0.628 0.672 0.527 0.662 . 4.370 4.370 6.626 1.199 0.691 1.000 0.023 0.270 505 . . . . TRIM38 33 0 42 7 0.142857142857143 TRUE NA +ENSG00000112659.14 . BCM GRCh38.p13 chr6 43187813 43187813 + A A C Missense_Mutation SNP ENST00000252050.9 exon7 c.A1682C p.N561T exonic ENSG00000112659.14 . nonsynonymous SNV ENSG00000112659.14:ENST00000252050.9:exon7:c.A1682C:p.N561T 6p21.1 C3N-00150 . . . . . . . . . 1.20 T T B B N N N T N 0.240 T T T 0.087 0.137 0.198 0.337 T T T T T T 1.829 17.950 0.984 D N -0.354 1.486 -0.160 1.884 1.000 0.672 0.702 0.609 0.636 . 5.500 3.610 3.120 0.046 0.691 0.993 0.983 0.994 309 . . . . CUL9 319 2 392 46 0.105022831050228 TRUE TRUE +ENSG00000112659.14 . BCM GRCh38.p13 chr6 43205317 43205317 + G G T Missense_Mutation SNP ENST00000252050.9 exon24 c.G4687T p.G1563C exonic ENSG00000112659.14 . nonsynonymous SNV ENSG00000112659.14:ENST00000252050.9:exon24:c.G4687T:p.G1563C 6p21.1 C3N-00150 . . . . . . . . . 16.20 D D D D N D M T D 0.454 D D D 0.400 0.552 0.832 1.089 T D D D D D 3.337 24.200 0.996 D N 0.322 3.892 0.216 3.261 1.000 0.706 0.710 0.659 0.636 . 5.740 5.740 1.997 1.176 0.676 0.369 0.989 0.997 364 Cullin_homology_domain;Cullin,_N-terminal . . . CUL9 125 0 160 24 0.130434782608696 TRUE TRUE +ENSG00000188107.15 . BCM GRCh38.p13 chr6 64902185 64902185 + C C A Missense_Mutation SNP ENST00000370621.7 exon18 c.G2774T p.C925F exonic ENSG00000188107.15 . nonsynonymous SNV ENSG00000188107.15:ENST00000370621.7:exon18:c.G2774T:p.C925F 6q12 C3N-00150 . . . . . . . . . 13.19 D D P P . D H D D 0.755 D D D 0.764 0.902 0.607 0.059 T T D D D T 2.872 23.200 0.989 D N 0.613 6.054 0.474 4.927 0.001 0.487 0.574 0.574 0.613 . 4.510 3.610 2.545 0.858 0.548 1.000 0.783 0.920 796 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . EYS 145 0 78 5 0.0602409638554217 TRUE TRUE +ENSG00000080298.15 . BCM GRCh38.p13 chr9 3330369 3330369 + C C T Missense_Mutation SNP ENST00000382004.7 exon5 c.G364A p.V122I exonic ENSG00000080298.15 . nonsynonymous SNV ENSG00000080298.15:ENST00000382004.7:exon5:c.G364A:p.V122I 9p24.2 C3N-00150 . . . . . . . . . 5.20 D T D P N D L T N 0.241 T T T 0.041 0.411 0.129 0.384 T T T T T D 1.923 18.660 0.997 D N 0.113 2.939 0.215 3.258 1.000 0.653 0.634 0.653 0.669 . 5.500 4.600 3.141 1.026 0.599 1.000 0.997 0.994 788 RFX1_transcription_activation_region . . ID=COSV56507633;OCCURENCE=1(peritoneum),1(stomach) RFX3 403 0 491 27 0.0521235521235521 TRUE NA +ENSG00000137094.14 . BCM GRCh38.p13 chr9 34993241 34993241 + A A G Missense_Mutation SNP ENST00000545841.5 exon2 c.A8G p.K3R exonic ENSG00000137094.14 . nonsynonymous SNV ENSG00000137094.14:ENST00000545841.5:exon2:c.A8G:p.K3R 9p13.3 C3N-00150 . . . . . . . . . 10.20 D T D P D D L T D 0.697 T T D 0.422 0.351 0.919 1.987 T T T T D D 3.534 24.800 0.999 D D 0.479 4.878 0.546 5.606 1.000 0.545 0.634 0.602 0.563 . 5.110 5.110 8.947 1.312 0.756 1.000 1.000 1.000 149 DnaJ_domain . . . DNAJB5 140 0 180 22 0.108910891089109 TRUE NA +ENSG00000165684.4 . BCM GRCh38.p13 chr9 136383391 136383391 + C C T Missense_Mutation SNP ENST00000298532.2 exon15 c.G1778A p.G593D exonic ENSG00000165684.4 . nonsynonymous SNV ENSG00000165684.4:ENST00000298532.2:exon15:c.G1778A:p.G593D 9q34.3 C3N-00150 . . . . . . . . . 0.20 T T B B N N L T N 0.172 T T T 0.017 0.223 0.199 . T T T T T T -0.867 0.017 0.438 N N -1.444 0.100 -1.582 0.080 0.975 0.672 0.702 0.702 0.636 . 3.950 -6.570 -4.982 -0.673 -0.186 0.000 0.000 0.001 912 . . . . SNAPC4 129 0 200 15 0.0697674418604651 TRUE TRUE +ENSG00000196932.12 . BCM GRCh38.p13 chr10 61429060 61429060 + T T C Missense_Mutation SNP ENST00000399298.8 exon4 c.A471G p.I157M exonic ENSG00000196932.12 . nonsynonymous SNV ENSG00000196932.12:ENST00000399298.8:exon4:c.A471G:p.I157M 10q21.2 C3N-00150 . . . . . . . . . 16.19 D D D D D D M . D 0.665 D T D 0.448 0.814 0.266 0.657 T D D D D D 2.703 22.800 0.996 D N 0.171 3.175 0.024 2.442 0.000 0.638 0.574 0.653 0.564 . 5.490 -2.350 -0.248 0.142 0.609 0.753 1.000 0.997 783 . . . . TMEM26 240 0 227 23 0.092 TRUE TRUE +ENSG00000096717.12 . BCM GRCh38.p13 chr10 67912955 67912955 + A A - Frame_Shift_Del DEL ENST00000212015.11 exon8 c.1839delA p.T614Lfs*7 exonic ENSG00000096717.12 . frameshift deletion ENSG00000096717.12:ENST00000212015.11:exon8:c.1839delA:p.T614Lfs*7 10q21.3 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIRT1 106 0 77 8 0.0941176470588235 NA TRUE +ENSG00000173267.14 . BCM GRCh38.p13 chr10 86960077 86960077 + G G T Missense_Mutation SNP ENST00000372017.4 exon3 c.G240T p.K80N exonic ENSG00000173267.14 . nonsynonymous SNV ENSG00000173267.14:ENST00000372017.4:exon3:c.G240T:p.K80N 10q23.2 C3N-00150 . . . . . . . . . 15.20 D T P P N D M D D 0.508 D D D 0.496 0.510 0.809 0.561 T D D D D D 3.825 26.000 0.997 D D 0.304 3.798 0.251 3.442 1.000 0.742 0.588 0.775 0.635 . 4.690 3.760 1.834 1.176 0.676 1.000 0.945 0.694 886 . . . . SNCG 157 0 178 19 0.0964467005076142 TRUE TRUE +ENSG00000172893.16 . BCM GRCh38.p13 chr11 71438950 71438950 + A A G Missense_Mutation SNP ENST00000355527.8 exon7 c.T760C p.S254P exonic ENSG00000172893.16 . nonsynonymous SNV ENSG00000172893.16:ENST00000355527.8:exon7:c.T760C:p.S254P 11q13.4 C3N-00150 . . . . . . . . . 19.20 D D D D D D H D D 0.982 D T D 0.949 0.768 0.977 0.583 D D D D D D 3.908 26.400 0.999 D D 0.517 5.170 0.506 5.215 1.000 0.707 0.725 0.725 0.714 . 4.770 4.770 8.075 1.312 0.691 1.000 1.000 0.916 649 . . . . DHCR7 274 0 397 42 0.0956719817767654 TRUE TRUE +ENSG00000118058.23 . BCM GRCh38.p13 chr11 118505020 118505023 + CCAT CCAT - Frame_Shift_Del DEL ENST00000389506.10 exon27 c.9119_9122del p.I3041Rfs*30 exonic ENSG00000118058.23 . frameshift deletion ENSG00000118058.23:ENST00000389506.10:exon27:c.9119_9122del:p.I3041Rfs*30 11q23.3 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2A 165 0 166 32 0.161616161616162 TRUE TRUE +ENSG00000160703.16 . BCM GRCh38.p13 chr11 119174030 119174030 + G G T Missense_Mutation SNP ENST00000409109.6 exon5 c.G781T p.D261Y exonic ENSG00000160703.16 . nonsynonymous SNV ENSG00000160703.16:ENST00000409109.6:exon5:c.G781T:p.D261Y 11q23.3 C3N-00150 . . . . . . . . . 18.20 D D D D D D H T D 0.780 D D D 0.626 0.786 0.825 0.852 T D D D D D 3.442 24.500 0.991 D D 0.538 5.345 0.417 4.481 0.444 0.732 0.744 0.710 0.655 . 5.720 2.700 6.399 1.176 0.676 1.000 0.995 0.952 258 NACHT_nucleoside_triphosphatase . . . NLRX1 167 0 185 34 0.155251141552511 TRUE TRUE +ENSG00000248712.7 . BCM GRCh38.p13 chr11 119195444 119195444 + T T A Missense_Mutation SNP ENST00000503566.6 exon1 c.A44T p.Q15L exonic ENSG00000248712.7 . nonsynonymous SNV ENSG00000248712.7:ENST00000503566.6:exon1:c.A44T:p.Q15L 11q23.3 C3N-00150 . . . . . . . . . 3.19 T T P P . N M T N 0.221 T T T 0.062 0.160 0.542 0.138 T T T T D T 2.395 22.100 0.991 D N 0.081 2.812 0.046 2.524 0.061 0.609 0.588 0.731 0.616 . 5.300 3.020 0.880 0.200 0.665 0.998 0.486 0.150 347 . . . . CCDC153 178 0 200 18 0.0825688073394495 TRUE TRUE +ENSG00000135111.16 . BCM GRCh38.p13 chr12 114672074 114672074 + C C T Missense_Mutation SNP ENST00000257566.7 exon8 c.G1999A p.A667T exonic ENSG00000135111.16 . nonsynonymous SNV ENSG00000135111.16:ENST00000257566.7:exon8:c.G1999A:p.A667T 12q24.21 C3N-00150 . . . . . . . . . 2.20 T T P B N N N D N 0.117 T T D 0.186 0.181 0.573 0.351 T T T T T T 1.210 13.720 0.995 N N -0.678 0.851 -0.680 0.928 1.000 0.598 0.563 0.607 0.639 . 3.940 3.040 0.800 -0.236 0.599 0.140 0.126 0.752 965 . . . . TBX3 164 1 236 23 0.0888030888030888 TRUE NA +ENSG00000104093.13 . BCM GRCh38.p13 chr15 51499982 51499982 + C C T Missense_Mutation SNP ENST00000251076.9 exon18 c.G3242A p.R1081H exonic ENSG00000104093.13 . nonsynonymous SNV ENSG00000104093.13:ENST00000251076.9:exon18:c.G3242A:p.R1081H 15q21.2 C3N-00150 8.313e-06 0 0 0 0 0 0.0011 0 rs757597201 13.18 D . D D D D M T D 0.891 T T D 0.637 0.731 0.552 0.884 T T D D D D 3.909 26.400 0.999 D . 0.848 9.785 0.813 10.526 1.000 0.657 0.695 0.602 0.700 . 5.320 5.320 7.542 1.026 0.549 1.000 1.000 0.998 511 . . . . DMXL2 173 0 161 15 0.0852272727272727 TRUE NA +ENSG00000178226.11 . BCM GRCh38.p13 chr16 31141881 31141881 + C C A Missense_Mutation SNP ENST00000268281.9 exon11 c.G1601T p.C534F exonic ENSG00000178226.11 . nonsynonymous SNV ENSG00000178226.11:ENST00000268281.9:exon11:c.G1601T:p.C534F 16p11.2 C3N-00150 . . . . . . . . . 13.19 D D D D . D H T D 0.729 T T D 0.450 0.956 0.865 0.974 T T D D D T 3.707 25.400 0.992 D D 0.810 8.972 0.719 8.121 1.000 0.394 0.569 0.687 0.562 . 5.150 5.150 1.355 1.026 0.599 0.988 0.352 0.570 61 Serine_proteases,_trypsin_domain . . . PRSS36 250 0 256 25 0.0889679715302491 TRUE TRUE +ENSG00000259803.7 . BCM GRCh38.p13 chr16 89196010 89196010 + C C T Missense_Mutation SNP ENST00000562855.7 exon9 c.G1006A p.E336K exonic ENSG00000259803.7 . nonsynonymous SNV ENSG00000259803.7:ENST00000562855.7:exon9:c.G1006A:p.E336K 16q24.3 C3N-00150 0.0003 0 0 0 0 0 0 0.0008 rs751321737 1.8 . D . . . . . . . 0.099 . . T . . 0.115 . T . T T . T -0.224 0.453 0.654 N N . . . . 1.000 0.091 0.061 0.129 0.063 . 3.470 -6.950 0.135 -1.077 -1.365 0.000 0.000 0.002 819 . . . . SLC22A31 30 0 55 8 0.126984126984127 TRUE NA +ENSG00000179477.11 . BCM GRCh38.p13 chr17 8077041 8077041 + G G - Frame_Shift_Del DEL ENST00000647874.1 exon9 c.1224delC p.F409Sfs*6 exonic ENSG00000179477.11 . frameshift deletion ENSG00000179477.11:ENST00000647874.1:exon9:c.1224delC:p.F409Sfs*6 17p13.1 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALOX12B 220 0 283 38 0.118380062305296 TRUE TRUE +ENSG00000013306.16 . BCM GRCh38.p13 chr17 44322813 44322813 + G G A Missense_Mutation SNP ENST00000377095.10 exon4 c.C185T p.T62I exonic ENSG00000013306.16 . nonsynonymous SNV ENSG00000013306.16:ENST00000377095.10:exon4:c.C185T:p.T62I 17q21.31 C3N-00150 . . . . . . . . . 7.20 T D B B N D M D N 0.305 T T D 0.201 0.368 0.882 0.055 T T T T T T 2.249 21.200 0.885 D D -0.057 2.314 0.061 2.581 1.000 0.707 0.698 0.725 0.714 . 4.750 4.750 1.762 1.176 0.676 0.974 0.968 0.807 481 . . . . SLC25A39 120 0 142 17 0.106918238993711 NA TRUE +ENSG00000177885.15 . BCM GRCh38.p13 chr17 75320466 75320466 + T T C Missense_Mutation SNP ENST00000316804.10 exon6 c.A556G p.M186V exonic ENSG00000177885.15 . nonsynonymous SNV ENSG00000177885.15:ENST00000316804.10:exon6:c.A556G:p.M186V 17q25.1 C3N-00150 . . . . . . . . . 5.20 T T B B D D N T N 0.104 T T T 0.062 0.532 0.597 1.344 T T T T D D 2.489 22.400 0.971 D N -0.322 1.560 -0.042 2.220 1.000 0.731 0.750 0.644 0.735 . 5.450 4.340 4.967 1.138 0.665 1.000 1.000 0.998 964 SH3_domain;GRB2,_C-terminal_SH3_domain . . . GRB2 222 0 310 27 0.0801186943620178 TRUE TRUE +ENSG00000169696.16 . BCM GRCh38.p13 chr17 82012278 82012278 + T T G Missense_Mutation SNP ENST00000306739.9 exon12 c.T1348G p.F450V exonic ENSG00000169696.16 . nonsynonymous SNV ENSG00000169696.16:ENST00000306739.9:exon12:c.T1348G:p.F450V 17q25.3 C3N-00150 . . . . . . . . . 9.20 D D D P D D L T D 0.405 T T D 0.258 0.403 0.614 0.317 T T T T D T 2.947 23.300 0.851 D N 0.292 3.739 0.259 3.489 1.000 0.635 0.644 0.723 0.563 . 4.750 4.750 0.588 1.138 0.609 0.000 0.978 0.579 . UBX_domain . . . ASPSCR1 125 0 177 31 0.149038461538462 TRUE TRUE +ENSG00000129355.7 . BCM GRCh38.p13 chr19 10568629 10568629 + C C T Missense_Mutation SNP ENST00000393599.3 exon1 c.G25A p.G9S exonic ENSG00000129355.7 . nonsynonymous SNV ENSG00000129355.7:ENST00000393599.3:exon1:c.G25A:p.G9S 19p13.2 C3N-00150 . . . . . . . . . 10.20 D T D D U D M T N 0.445 T T D 0.184 0.296 0.625 1.362 D T T T D T 4.165 28.300 0.998 D D 0.438 4.587 0.401 4.363 1.000 0.455 0.522 0.474 0.568 . 4.110 4.110 3.935 1.003 0.574 1.000 0.997 0.970 725 Ankyrin_repeat-containing_domain . . . CDKN2D 60 0 89 9 0.0918367346938776 TRUE TRUE +ENSG00000171777.16 . BCM GRCh38.p13 chr19 38412989 38412989 + G G C Missense_Mutation SNP ENST00000615439.5 exon12 c.C1477G p.R493G exonic ENSG00000171777.16 . nonsynonymous SNV ENSG00000171777.16:ENST00000615439.5:exon12:c.C1477G:p.R493G 19q13.2 C3N-00150 . . . . . . . . . 5.20 T T P B N N N T D 0.571 T T D 0.169 0.376 0.717 0.628 T T T T D D 2.602 22.600 0.998 D N -0.165 1.978 -0.030 2.258 1.000 0.615 0.634 0.602 0.613 . 5.820 3.680 2.041 1.176 0.676 0.693 0.998 0.970 603 EF-hand_domain . . . RASGRP4 211 0 302 23 0.0707692307692308 TRUE TRUE +ENSG00000089048.14 . BCM GRCh38.p13 chr20 13782977 13782977 + T T G Missense_Mutation SNP ENST00000202816.5 exon2 c.A164C p.K55T exonic ENSG00000089048.14 . nonsynonymous SNV ENSG00000089048.14:ENST00000202816.5:exon2:c.A164C:p.K55T 20p12.1 C3N-00150 . . . . . . . . . 14.20 D D D D D D H T D 0.826 T T D 0.522 0.444 0.708 0.461 T T D T D D 3.931 26.500 0.998 D D 0.844 9.699 0.768 9.232 1.000 0.719 0.725 0.725 0.734 . 5.100 5.100 8.017 1.138 0.609 1.000 1.000 0.951 668 . . . . ESF1 466 0 358 37 0.0936708860759494 NA TRUE +ENSG00000142168.15 . BCM GRCh38.p13 chr21 31666460 31666460 + G G A Missense_Mutation SNP ENST00000270142.11 exon3 c.G181A p.A61T exonic ENSG00000142168.15 . nonsynonymous SNV ENSG00000142168.15:ENST00000270142.11:exon3:c.G181A:p.A61T 21q22.11 C3N-00150 . . . . . . . . . 17.20 T T D D D D M D D 0.793 D D D 0.871 0.793 0.998 2.289 T D D D D D 3.809 25.900 0.999 D D 0.830 9.406 0.817 10.657 1.000 0.732 0.686 0.744 0.711 . 5.200 5.200 9.014 1.176 0.674 1.000 1.000 1.000 780 Superoxide_dismutase,_copper/zinc_binding_domain . . . SOD1 355 0 310 20 0.0606060606060606 TRUE TRUE +ENSG00000100395.15 . BCM GRCh38.p13 chr22 41224124 41224124 + - NA GG Frame_Shift_Ins INS ENST00000216237.10 exon9 c.1047_1048insGG p.R352Vfs*24 exonic ENSG00000100395.15 . frameshift insertion ENSG00000100395.15:ENST00000216237.10:exon9:c.1047_1048insGG:p.R352Vfs*24 22q13.2 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . L3MBTL2 NA NA NA NA NA NA NA +ENSG00000077942.19 . BCM GRCh38.p13 chr22 45547148 45547148 + A A G Missense_Mutation SNP ENST00000327858.11 exon12 c.A1385G p.Q462R exonic ENSG00000077942.19 . nonsynonymous SNV ENSG00000077942.19:ENST00000327858.11:exon12:c.A1385G:p.Q462R 22q13.31 C3N-00150 . . . . . . . . . 14.20 D T B B D D N D D 0.861 T D D 0.588 0.618 0.905 0.418 T D D D D D 3.256 24.000 0.996 D D -0.065 2.287 0.200 3.183 1.000 0.719 0.590 0.723 0.568 . 5.780 5.780 9.233 1.286 0.726 1.000 0.997 0.946 895 EGF-like_domain;Complement_Clr-like_EGF_domain;EGF-like_calcium-binding_domain . . . FBLN1 422 0 544 62 0.102310231023102 TRUE TRUE +ENSG00000147081.15 . BCM GRCh38.p13 chrX 50193204 50193204 + C C A Missense_Mutation SNP ENST00000358526.7 exon5 c.G1509T p.E503D exonic ENSG00000147081.15 . nonsynonymous SNV ENSG00000147081.15:ENST00000358526.7:exon5:c.G1509T:p.E503D Xp11.22 C3N-00150 . . . . . . . . . 8.19 D D D D D D M T N 0.423 T T T 0.162 0.661 0.616 0.598 T T T T D T 1.522 15.880 0.995 N . . . . . 0.172 . . . . . 4.830 0.446 0.068 1.018 0.547 0.878 0.997 0.895 440 A-kinase_anchor_110kDa,_C-terminal . . . AKAP4 156 0 188 24 0.113207547169811 TRUE TRUE +ENSG00000151923.17 . BCM GRCh38.p13 chr10 119580012 119580012 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000151923.17 ENST00000436547.6:exon6:c.372-2A>G . . 10q26.11 C3N-00150 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.674 34 0.995 D . 1.130 18.916 0.986 18.009 1.000 0.295 0.304 0.232 0.221 0.976 5.520 5.520 7.915 1.138 0.665 1.000 1.000 0.996 957 . . . . TIAL1 108 0 78 10 0.113636363636364 TRUE TRUE +ENSG00000081760.17 . BCM GRCh38.p13 chr12 125136865 125136865 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000081760.17 ENST00000316519.11:exon17:c.1881+1G>T . . 12q24.31 C3N-00150 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.336 34 0.995 D . 1.163 20.873 1.000 18.853 1.000 0.295 0.304 0.201 0.118 0.988 5.150 5.150 9.275 1.083 0.676 1.000 0.087 0.668 976 . . . . AACS 117 0 169 16 0.0864864864864865 TRUE TRUE +ENSG00000103888.17 . BCM GRCh38.p13 chr15 80889470 80889470 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000103888.17 ENST00000394685.8:exon10:c.965-1G>C . . 15q25.1 C3N-00150 1.647e-05 0 0 0.0002 0 0 0 0 rs769389649 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.060 33 0.995 D . 1.129 18.863 0.968 17.002 1.000 0.075 0.110 0.084 0.057 0.982 5.840 5.840 7.386 1.146 0.676 1.000 0.996 0.707 934 . . . . CEMIP 332 0 373 33 0.0812807881773399 TRUE NA +ENSG00000138658.15 . BCM GRCh38.p13 chr4 112619664 112619664 + T T A Silent SNP ENST00000505019.5 exon6 c.A378T p.P126P exonic ENSG00000138658.15 . synonymous SNV ENSG00000138658.15:ENST00000505019.5:exon6:c.A378T:p.P126P 4q25 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZGRF1 49 0 51 5 0.0892857142857143 TRUE TRUE +ENSG00000204681.11 . BCM GRCh38.p13 chr6 29608655 29608655 + G G C Silent SNP ENST00000377034.9 exon16 c.C1938G p.P646P exonic ENSG00000204681.11 . synonymous SNV ENSG00000204681.11:ENST00000377034.9:exon16:c.C1938G:p.P646P 6p22.1 C3N-00150 8.602e-06 0 0 0 0 1.578e-05 0 0 rs76632246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABBR1 133 0 146 16 0.0987654320987654 TRUE TRUE +ENSG00000198785.7 . BCM GRCh38.p13 chr9 101687156 101687156 + A A G Silent SNP ENST00000361820.6 exon2 c.T744C p.S248S exonic ENSG00000198785.7 . synonymous SNV ENSG00000198785.7:ENST00000361820.6:exon2:c.T744C:p.S248S 9q31.1 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIN3A 170 0 218 27 0.110204081632653 TRUE TRUE +ENSG00000133805.15 . BCM GRCh38.p13 chr11 10478610 10478610 + C C T Silent SNP ENST00000396553.6 exon3 c.C306T p.A102A exonic ENSG00000133805.15 . synonymous SNV ENSG00000133805.15:ENST00000396553.6:exon3:c.C306T:p.A102A 11p15.4 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMPD3 349 0 522 56 0.0968858131487889 TRUE TRUE +ENSG00000030066.13 . BCM GRCh38.p13 chr11 47812968 47812968 + T T A Silent SNP ENST00000378460.6 exon15 c.A1866T p.S622S exonic ENSG00000030066.13 . synonymous SNV ENSG00000030066.13:ENST00000378460.6:exon15:c.A1866T:p.S622S 11p11.2 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUP160 116 0 75 7 0.0853658536585366 TRUE TRUE +ENSG00000100888.14 . BCM GRCh38.p13 chr14 21405425 21405425 + T T G Silent SNP ENST00000646647.2 exon16 c.A3091C p.R1031R exonic ENSG00000100888.14 . synonymous SNV ENSG00000100888.14:ENST00000646647.2:exon16:c.A3091C:p.R1031R 14q11.2 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD8 139 0 112 20 0.151515151515152 TRUE TRUE +ENSG00000196557.13 . BCM GRCh38.p13 chr16 1206158 1206158 + C C T Silent SNP ENST00000348261.11 exon12 c.C2658T p.F886F exonic ENSG00000196557.13 . synonymous SNV ENSG00000196557.13:ENST00000348261.11:exon12:c.C2658T:p.F886F 16p13.3 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1H 173 0 242 23 0.0867924528301887 TRUE NA +ENSG00000105143.12 . BCM GRCh38.p13 chr19 14952951 14952951 + G G A Silent SNP ENST00000221742.7 exon8 c.C1476T p.L492L exonic ENSG00000105143.12 . synonymous SNV ENSG00000105143.12:ENST00000221742.7:exon8:c.C1476T:p.L492L 19p13.12 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99693773;OCCURENCE=1(endometrium) SLC1A6 64 0 99 18 0.153846153846154 TRUE TRUE +ENSG00000164893.9 . BCM GRCh38.p13 chr8 86215647 86215647 + C C A Intron SNP NA NA NA NA intronic ENSG00000164893.9 . . . 8q21.3 C3N-00150 . . . . . . . . . 2.16 D D P B . N . T N 0.199 T T T 0.030 0.615 0.141 . . . T T T T -0.145 0.670 0.626 N N -1.212 0.219 -1.426 0.139 0.000 0.487 0.574 0.574 0.564 . 0.846 -1.690 -0.662 -1.264 -0.567 0.002 0.000 0.001 534 . . . . SLC7A13 91 0 105 19 0.153225806451613 NA TRUE +ENSG00000107890.16 . BCM GRCh38.p13 chr10 27051201 27051201 + G G A Intron SNP NA NA NA NA intronic ENSG00000107890.16 . . . 10p12.1 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD26 190 0 99 10 0.0917431192660551 TRUE NA +ENSG00000265357.1 . BCM GRCh38.p13 chr11 123431152 123431152 + G G C IGR SNP NA NA NA NA intergenic ENSG00000265357.1;ENSG00000023171.18 dist=49640;dist=94670 . . 11q24.1 C3N-00150 . . . . . . . . . 2.7 . . . . . . . . . . T T D 0.076 0.164 . . . T . . . T 2.920 23.200 0.884 D N -0.234 1.785 -0.230 1.715 1.000 0.652 0.093 0.641 0.250 . 4.120 1.070 1.028 -0.105 -0.165 1.000 0.997 0.990 900 . . . . MIR4493 70 0 108 18 0.142857142857143 TRUE TRUE +ENSG00000071564.17 . BCM GRCh38.p13 chr19 1612258 1612258 + T T G Intron SNP NA NA NA NA intronic ENSG00000071564.17 . . . 19p13.3 C3N-00150 . . . . . . . . . 16.16 . D D D . D . D . 0.764 D D D 0.760 - 0.872 . D D D D D D 2.592 22.600 0.994 D D 0.546 5.415 0.506 5.213 0.980 0.707 0.702 0.698 0.714 . 4.800 3.780 7.850 0.959 0.580 1.000 1.000 0.977 970 Myc-type,_basic_helix-loop-helix_(bHLH)_domain . . . TCF3 49 0 88 8 0.0833333333333333 TRUE TRUE +ENSG00000100228.12 . BCM GRCh38.p13 chr22 23156087 23156087 + G G A Intron SNP NA NA NA NA intronic ENSG00000100228.12 . . . 22q11.23 C3N-00150 8.964e-05 0 0 0 0 0.0001 0 0.0002 rs763708326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB36 78 0 113 7 0.0583333333333333 TRUE NA +ENSG00000101966.12 . BCM GRCh38.p13 chrX 123912000 123912000 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000101966.12 ENST00000371199.7:c.*4819T>C . . Xq25 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIAP 335 0 209 18 0.079295154185022 TRUE NA +ENSG00000064666.15 . BCM GRCh38.p13 chr19 1036511 1036512 + GG GG AT Unknown MNP ENST00000263097.9 exon6 c.603_604delinsAT p.M201_D202delinsIY exonic ENSG00000064666.15 . nonframeshift substitution ENSG00000064666.15:ENST00000263097.9:exon6:c.603_604delinsAT:p.M201_D202delinsIY 19p13.3 C3N-00150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNN2 220 1 298 16 0.0509554140127389 TRUE NA +ENSG00000187961.14 . BCM GRCh38.p13 chr1 962439 962439 + G G A Missense_Mutation SNP ENST00000338591.8 exon5 c.G796A p.D266N exonic ENSG00000187961.14 . nonsynonymous SNV ENSG00000187961.14:ENST00000338591.8:exon5:c.G796A:p.D266N 1p36.33 C3N-00154 . . . . . . . . . 11.20 T T D D D D M T D 0.903 T T D 0.425 0.746 0.847 . T T T T D D 3.719 25.500 0.996 D D 0.386 4.259 0.289 3.655 1.000 0.707 0.725 0.723 0.636 . 5.520 5.520 7.915 1.176 0.676 1.000 0.118 0.388 923 BTB/Kelch-associated . . ID=COSV58531443;OCCURENCE=2(lung) KLHL17 270 1 172 43 0.2 TRUE TRUE +ENSG00000198793.13 . BCM GRCh38.p13 chr1 11167473 11167473 + A A G Missense_Mutation SNP ENST00000361445.9 exon29 c.T4298C p.L1433S exonic ENSG00000198793.13 . nonsynonymous SNV ENSG00000198793.13:ENST00000361445.9:exon29:c.T4298C:p.L1433S 1p36.22 C3N-00154 . . . . . . . . . 19.20 D D D D D D M T D 0.934 D D D 0.783 0.585 0.956 1.253 D D D D D D 4.183 28.500 0.997 D D 0.916 11.461 0.854 11.929 1.000 0.706 0.654 0.710 0.714 . 5.790 5.790 8.576 1.312 0.756 1.000 0.997 0.996 325 PIK-related_kinase . . ID=COSV63868399;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue),2(kidney) MTOR 174 0 94 23 0.196581196581197 TRUE TRUE +ENSG00000116544.12 . BCM GRCh38.p13 chr1 34867601 34867601 + C C A Missense_Mutation SNP ENST00000373347.6 exon10 c.G2512T p.G838C exonic ENSG00000116544.12 . nonsynonymous SNV ENSG00000116544.12:ENST00000373347.6:exon10:c.G2512T:p.G838C 1p34.3 C3N-00154 . . . . . . . . . 17.20 D D D D D D M T D 0.887 D T D 0.770 0.893 0.853 1.624 D T D D D D 4.244 29.100 0.997 D D 0.978 13.255 0.910 14.192 1.000 0.696 0.627 0.723 0.663 . 5.360 5.360 7.905 1.026 0.599 1.000 1.000 0.998 900 . . . . DLGAP3 420 0 338 58 0.146464646464646 TRUE TRUE +ENSG00000280670.3 . BCM GRCh38.p13 chr1 45497309 45497309 + C C G Missense_Mutation SNP ENST00000629482.3 exon3 c.G252C p.Q84H exonic ENSG00000280670.3 . nonsynonymous SNV ENSG00000280670.3:ENST00000629482.3:exon3:c.G252C:p.Q84H 1p34.1 C3N-00154 . . . . . . . . . 0.11 . T . . . N . . . 0.307 T T T 0.044 0.177 0.295 . . . T T T T 1.585 16.270 0.962 N N -0.369 1.451 -0.516 1.177 0.001 0.615 0.588 0.659 0.568 . 4.930 2.040 0.016 -0.297 0.528 0.008 0.572 0.063 170 . . . . CCDC163 154 0 145 11 0.0705128205128205 TRUE NA +ENSG00000157211.11 . BCM GRCh38.p13 chr1 54141256 54141256 + T T C Missense_Mutation SNP ENST00000371330.1 exon3 c.A605G p.Y202C exonic ENSG00000157211.11 . nonsynonymous SNV ENSG00000157211.11:ENST00000371330.1:exon3:c.A605G:p.Y202C 1p32.3 C3N-00154 . . . . . . . . . 12.20 D D D D D D M T D 0.720 T T T 0.358 0.632 0.385 0.359 T T D T D T 3.790 25.800 0.998 D D 0.846 9.742 0.759 9.007 1.000 0.487 0.574 0.547 0.613 . 5.570 5.570 4.680 1.138 0.665 1.000 0.671 0.653 838 CUB_domain . . . CDCP2 166 0 122 7 0.0542635658914729 TRUE TRUE +ENSG00000152763.17 . BCM GRCh38.p13 chr1 66891207 66891207 + G G A Missense_Mutation SNP ENST00000371026.8 exon4 c.C590T p.A197V exonic ENSG00000152763.17 . nonsynonymous SNV ENSG00000152763.17:ENST00000371026.8:exon4:c.C590T:p.A197V 1p31.3 C3N-00154 . . . . . . . . . 4.20 T D P B N D L T N 0.044 T T T 0.045 0.158 0.533 0.101 T T T T D T 2.147 20.500 0.995 D N 0.036 2.641 0.068 2.608 0.001 0.554 0.547 0.618 0.621 . 5.120 3.130 1.404 1.176 0.676 0.989 0.994 0.793 807 . . . . WDR78 142 0 160 25 0.135135135135135 TRUE TRUE +ENSG00000116729.14 . BCM GRCh38.p13 chr1 68193956 68193956 + G G C Missense_Mutation SNP ENST00000262348.9 exon2 c.C378G p.I126M exonic ENSG00000116729.14 . nonsynonymous SNV ENSG00000116729.14:ENST00000262348.9:exon2:c.C378G:p.I126M 1p31.3 C3N-00154 . . . . . . . . . 5.20 T D P B D D L T N 0.479 T T T 0.123 0.453 0.519 0.242 T T T T T D 2.132 20.300 0.993 D N -0.200 1.875 -0.077 2.115 0.978 0.707 0.588 0.659 0.714 . 5.270 3.220 0.058 1.176 0.671 0.969 1.000 0.991 804 . . . . WLS 107 0 83 20 0.194174757281553 TRUE TRUE +ENSG00000172260.15 . BCM GRCh38.p13 chr1 72282386 72282386 + T T C Missense_Mutation SNP ENST00000357731.10 exon1 c.A109G p.S37G exonic ENSG00000172260.15 . nonsynonymous SNV ENSG00000172260.15:ENST00000357731.10:exon1:c.A109G:p.S37G 1p31.1 C3N-00154 . . . . . . . . . 4.20 T T B B N D N T N 0.110 T T T 0.060 0.397 0.123 0.385 T T T T D T 2.819 23.100 0.993 D D -0.304 1.604 -0.054 2.183 1.000 0.685 0.596 0.674 0.562 . 5.250 5.250 4.102 1.066 0.580 1.000 1.000 0.997 898 Immunoglobulin-like_domain . . . NEGR1 223 0 158 25 0.136612021857924 TRUE TRUE +ENSG00000137975.8 . BCM GRCh38.p13 chr1 86428559 86428559 + G G A Missense_Mutation SNP ENST00000370565.5 exon3 c.G466A p.G156R exonic ENSG00000137975.8 . nonsynonymous SNV ENSG00000137975.8:ENST00000370565.5:exon3:c.G466A:p.G156R 1p22.3 C3N-00154 8.358e-06 0 0 0 0 1.512e-05 0 0 rs761212004 15.20 D D D D D D M T D 0.928 T T D 0.622 0.945 0.526 0.434 T T D D D D 4.444 31 0.999 D D 0.967 12.923 0.914 14.358 1.000 0.487 0.574 0.547 0.613 . 5.590 5.590 7.655 1.176 0.676 1.000 0.980 0.998 722 Calcium-activated_chloride_channel,_N-terminal . . . CLCA2 94 0 67 11 0.141025641025641 TRUE NA +ENSG00000162641.20 . BCM GRCh38.p13 chr1 108834957 108834957 + C C T Missense_Mutation SNP ENST00000370001.8 exon8 c.G1636A p.E546K exonic ENSG00000162641.20 . nonsynonymous SNV ENSG00000162641.20:ENST00000370001.8:exon8:c.G1636A:p.E546K 1p13.3 C3N-00154 1.74e-05 0 8.676e-05 0 0 1.552e-05 0 0 rs751500049 0.19 T T B B . N N T N 0.216 T T T 0.005 0.289 0.014 0.028 T T T T T T 0.303 4.324 0.915 N N -1.520 0.075 -1.640 0.065 0.982 0.487 0.574 0.547 0.542 . 2.270 -4.090 -1.010 -0.397 -0.276 0.002 0.013 0.008 859 . . . ID=COSV62197104;OCCURENCE=1(cervix),1(NS),1(skin) AKNAD1 53 0 50 14 0.21875 TRUE TRUE +ENSG00000014914.21 . BCM GRCh38.p13 chr1 149935353 149935353 + G G C Missense_Mutation SNP ENST00000439741.4 exon4 c.C271G p.P91A exonic ENSG00000014914.21 . nonsynonymous SNV ENSG00000014914.21:ENST00000439741.4:exon4:c.C271G:p.P91A 1q21.2 C3N-00154 . . . . . . . . . 4.20 T T B B N D L D N 0.480 T T D 0.365 0.417 0.705 0.215 T T T T T T 1.008 11.720 0.697 D N -0.012 2.469 0.100 2.736 1.000 0.651 0.547 0.659 0.684 . 5.110 4.160 0.998 1.176 0.676 1.000 0.991 0.779 216 . . . . MTMR11 119 0 82 17 0.171717171717172 TRUE TRUE +ENSG00000143375.15 . BCM GRCh38.p13 chr1 151534037 151534037 + C C G Missense_Mutation SNP ENST00000271636.12 exon15 c.C2805G p.D935E exonic ENSG00000143375.15 . nonsynonymous SNV ENSG00000143375.15:ENST00000271636.12:exon15:c.C2805G:p.D935E 1q21.3 C3N-00154 . . . . . . . . . 4.15 T T . . D D . T N 0.399 T T D 0.341 . 0.616 0.445 T . T T T . 2.416 22.200 0.955 D N -0.375 1.438 -0.323 1.517 0.997 0.707 0.588 0.725 0.568 . 5.250 3.310 -0.170 0.125 0.599 0.587 0.937 0.462 434 . . . . CGN 250 0 174 34 0.163461538461538 TRUE TRUE +ENSG00000143631.11 . BCM GRCh38.p13 chr1 152304745 152304745 + C C T Missense_Mutation SNP ENST00000368799.2 exon3 c.G10141A p.G3381R exonic ENSG00000143631.11 . nonsynonymous SNV ENSG00000143631.11:ENST00000368799.2:exon3:c.G10141A:p.G3381R 1q21.3 C3N-00154 . . . . . . . . . 3.18 D . D D . N L T N 0.244 T T T 0.077 0.262 0.221 . T T T T T T 0.272 3.965 0.849 N N -0.838 0.602 -1.118 0.358 0.000 0.554 0.574 0.574 0.621 . 3.240 -1.700 -3.189 -0.089 -0.380 0.000 0.000 0.001 558 . . . . FLG 819 1 569 131 0.187142857142857 NA TRUE +ENSG00000158764.7 . BCM GRCh38.p13 chr1 160950129 160950129 + T T A Missense_Mutation SNP ENST00000368029.4 exon6 c.A638T p.N213I exonic ENSG00000158764.7 . nonsynonymous SNV ENSG00000158764.7:ENST00000368029.4:exon6:c.A638T:p.N213I 1q23.3 C3N-00154 . . . . . . . . . 0.20 T T B B U N L T N 0.188 T T T 0.021 0.267 0.161 0.184 T T T T T T 0.507 6.573 0.635 N N -1.613 0.052 -1.660 0.060 1.000 0.713 0.590 0.609 0.542 . 4.720 -5.510 0.081 -0.841 -0.274 0.023 0.067 0.130 624 . . . . ITLN2 141 0 105 22 0.173228346456693 TRUE TRUE +ENSG00000162763.4 . BCM GRCh38.p13 chr1 165544567 165544567 + G G C Missense_Mutation SNP ENST00000294818.2 exon1 c.G271C p.E91Q exonic ENSG00000162763.4 . nonsynonymous SNV ENSG00000162763.4:ENST00000294818.2:exon1:c.G271C:p.E91Q 1q24.1 C3N-00154 2.471e-05 0 0.0003 0 0 0 0 0 rs764714371 7.20 D T B B D D M T N 0.378 T T T 0.109 0.406 0.835 0.709 T T T T D T 2.875 23.200 0.996 D D 0.218 3.384 0.355 4.055 1.000 0.583 0.563 0.615 0.530 . 5.680 5.680 3.516 1.176 0.676 0.999 0.999 0.990 909 . . . . LRRC52 371 0 356 31 0.0801033591731266 TRUE NA +ENSG00000134376.16 . BCM GRCh38.p13 chr1 197421737 197421737 + C C A Missense_Mutation SNP ENST00000367400.8 exon6 c.C1909A p.P637T exonic ENSG00000134376.16 . nonsynonymous SNV ENSG00000134376.16:ENST00000367400.8:exon6:c.C1909A:p.P637T 1q31.3 C3N-00154 . . . . . . . . . 13.19 D D D D . D L T D 0.602 D D D 0.474 0.493 0.886 0.240 T D T T D D 2.388 22.000 0.984 D N 0.188 3.252 0.059 2.572 1.000 0.554 0.574 0.618 0.564 . 5.900 4.980 2.686 0.077 -0.217 0.999 0.831 0.008 343 Laminin_G_domain . . ID=COSV66332730;OCCURENCE=1(skin) CRB1 521 1 476 64 0.118518518518519 TRUE TRUE +ENSG00000143799.13 . BCM GRCh38.p13 chr1 226402336 226402336 + G G T Missense_Mutation SNP ENST00000366794.10 exon2 c.C164A p.S55Y exonic ENSG00000143799.13 . nonsynonymous SNV ENSG00000143799.13:ENST00000366794.10:exon2:c.C164A:p.S55Y 1q42.12 C3N-00154 . . . . . . . . . 10.20 D D P P N D M T D 0.662 T T D 0.388 0.788 0.788 0.580 T T T T D D 3.985 26.900 0.995 D D 0.711 7.277 0.706 7.864 1.000 0.722 0.672 0.699 0.714 . 5.200 5.200 7.554 1.176 0.676 1.000 0.999 0.995 517 Zinc_finger,_PARP-type . . . PARP1 348 1 278 53 0.16012084592145 TRUE TRUE +ENSG00000143772.9 . BCM GRCh38.p13 chr1 226737037 226737037 + A A G Missense_Mutation SNP ENST00000429204.5 exon2 c.T422C p.V141A exonic ENSG00000143772.9 . nonsynonymous SNV ENSG00000143772.9:ENST00000429204.5:exon2:c.T422C:p.V141A 1q42.12 C3N-00154 . . . . . . . . . 11.20 D D D D D D L T D 0.710 T T D 0.242 0.200 0.426 0.843 T T T T D T 4.305 29.600 0.998 D D 0.294 3.748 0.313 3.794 1.000 0.767 0.672 0.674 0.555 . 4.150 4.150 7.439 1.207 0.756 1.000 1.000 1.000 845 . . . . ITPKB 379 0 238 50 0.173611111111111 TRUE TRUE +ENSG00000084693.16 . BCM GRCh38.p13 chr2 27053148 27053148 + G G C Missense_Mutation SNP ENST00000360131.5 exon2 c.G190C p.E64Q exonic ENSG00000084693.16 . nonsynonymous SNV ENSG00000084693.16:ENST00000360131.5:exon2:c.G190C:p.E64Q 2p23.3 C3N-00154 . . . . . . . . . 12.20 D D P B D D L D N 0.218 D D D 0.311 0.356 0.656 0.848 T T T T D D 2.582 22.600 0.996 D D 0.271 3.631 0.345 3.987 1.000 0.707 0.702 0.644 0.714 . 4.530 4.530 5.826 1.176 0.676 1.000 0.964 0.650 435 . . . . AGBL5 65 0 42 14 0.25 TRUE TRUE +ENSG00000186854.11 . BCM GRCh38.p13 chr2 84824148 84824148 + T T A Missense_Mutation SNP ENST00000409520.7 exon6 c.A1139T p.K380I exonic ENSG00000186854.11 . nonsynonymous SNV ENSG00000186854.11:ENST00000409520.7:exon6:c.A1139T:p.K380I 2p11.2 C3N-00154 . . . . . . . . . 0.20 T T B B U N N T N 0.250 T T T 0.023 0.400 0.158 0.445 T T T T T T 1.918 18.620 0.886 N N -0.709 0.797 -0.738 0.846 0.707 0.758 0.610 0.692 0.564 . 3.740 2.570 2.110 0.598 0.363 0.411 0.024 0.115 567 . . . . TRABD2A 404 0 210 83 0.283276450511945 TRUE TRUE +ENSG00000136709.12 . BCM GRCh38.p13 chr2 127706326 127706327 + CC CC - Frame_Shift_Del DEL ENST00000322313.9 exon22 c.4007_4008del p.R1336Lfs*16 exonic ENSG00000136709.12 . frameshift deletion ENSG00000136709.12:ENST00000322313.9:exon22:c.4007_4008del:p.R1336Lfs*16 2q14.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR33 23 0 26 14 0.35 TRUE TRUE +ENSG00000157827.20 . BCM GRCh38.p13 chr2 152619048 152619048 + C C T Missense_Mutation SNP ENST00000288670.14 exon14 c.C1517T p.S506L exonic ENSG00000157827.20 . nonsynonymous SNV ENSG00000157827.20:ENST00000288670.14:exon14:c.C1517T:p.S506L 2q23.3 C3N-00154 . . . . . . . . . 5.19 D T B B N D L D N 0.091 T T T 0.222 0.221 0.305 0.320 T . T T T T 1.879 18.330 0.998 D D -0.571 1.042 -0.384 1.401 1.000 0.732 0.634 0.744 0.714 . 5.570 4.690 3.741 0.117 -0.182 0.965 0.593 0.180 327 . . . . FMNL2 137 0 127 24 0.158940397350993 TRUE TRUE +ENSG00000175879.9 . BCM GRCh38.p13 chr2 176130933 176130933 + G G A Missense_Mutation SNP ENST00000313173.6 exon1 c.G567A p.M189I exonic ENSG00000175879.9 . nonsynonymous SNV ENSG00000175879.9:ENST00000313173.6:exon1:c.G567A:p.M189I 2q31.1 C3N-00154 . . . . . . . . rs371171284 17.20 D D P B D D M D D 0.683 D D D 0.556 . 0.943 . D T D D D D 3.727 25.500 0.995 D D 0.494 4.987 0.555 5.703 1.000 0.598 0.563 0.596 0.562 . 4.630 4.630 9.920 1.176 0.676 1.000 1.000 0.999 526 Homeobox_protein,_antennapedia_type,_conserved_site . . . HOXD8 81 0 63 15 0.192307692307692 TRUE NA +ENSG00000138439.12 . BCM GRCh38.p13 chr2 202759335 202759335 + A A G Missense_Mutation SNP ENST00000392238.3 exon7 c.A1433G p.K478R exonic ENSG00000138439.12 . nonsynonymous SNV ENSG00000138439.12:ENST00000392238.3:exon7:c.A1433G:p.K478R 2q33.2 C3N-00154 . . . . . . . . . 5.19 T T P P D D L . N 0.286 T T T 0.101 0.228 0.647 0.598 T T T T D T 3.338 24.200 0.986 D D 0.362 4.114 0.451 4.741 0.996 0.706 0.654 0.710 0.684 . 5.520 5.520 6.280 1.312 0.756 1.000 1.000 1.000 681 . . . . FAM117B 127 0 70 35 0.333333333333333 TRUE TRUE +ENSG00000036257.13 . BCM GRCh38.p13 chr2 224557748 224557748 + T T C Missense_Mutation SNP ENST00000264414.9 exon2 c.A175G p.R59G exonic ENSG00000036257.13 . nonsynonymous SNV ENSG00000036257.13:ENST00000264414.9:exon2:c.A175G:p.R59G 2q36.2 C3N-00154 . . . . . . . . . 19.20 D D D D D D M T D 0.853 D D D 0.639 0.705 0.930 2.209 D D D D D D 4.125 28.000 0.999 D D 0.537 5.336 0.569 5.851 1.000 0.706 0.725 0.663 0.613 . 5.550 5.550 4.905 1.137 0.665 1.000 1.000 0.999 933 Cullin,_N-terminal . . . CUL3 113 0 92 37 0.286821705426357 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146540 10146540 + G G - Frame_Shift_Del DEL ENST00000256474.3 exon2 c.367delG p.T124Hfs*35 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon2:c.367delG:p.T124Hfs*35 3p25.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 485 0 278 163 0.369614512471655 TRUE TRUE +ENSG00000114857.18 . BCM GRCh38.p13 chr3 42639033 42639033 + A A G Missense_Mutation SNP ENST00000232978.13 exon13 c.A3329G p.H1110R exonic ENSG00000114857.18 . nonsynonymous SNV ENSG00000114857.18:ENST00000232978.13:exon13:c.A3329G:p.H1110R 3p22.1 C3N-00154 8.249e-06 0 0 0 0 0 0 6.066e-05 rs759638816 2.20 D T B B N N M T N 0.077 T T T 0.052 0.360 0.246 0.231 T T T T T T 1.200 13.640 0.744 N N -0.611 0.967 -0.727 0.860 1.000 0.722 0.699 0.702 0.711 . 5.050 1.220 1.902 -0.085 0.756 0.002 0.006 0.041 410 . . . . NKTR 127 0 89 34 0.276422764227642 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52587503 52587504 + TT TT - Frame_Shift_Del DEL ENST00000296302.11 exon19 c.2972_2973del p.K991Mfs*12 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon19:c.2972_2973del:p.K991Mfs*12 3p21.1 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 101 0 71 21 0.228260869565217 TRUE TRUE +ENSG00000172780.17 . BCM GRCh38.p13 chr3 129121288 129121288 + T T G Missense_Mutation SNP ENST00000315150.10 exon1 c.A202C p.K68Q exonic ENSG00000172780.17 . nonsynonymous SNV ENSG00000172780.17:ENST00000315150.10:exon1:c.A202C:p.K68Q 3q21.3 C3N-00154 . . . . . . . . . 17.19 D D D P . D M T D 0.628 D D D 0.777 0.811 0.860 1.777 D D D D D D 4.591 32 0.992 D D 0.503 5.063 0.399 4.353 1.000 0.267 0.484 0.240 0.250 . 4.090 4.090 3.676 1.010 0.515 1.000 0.999 0.979 590 Small_GTP-binding_protein_domain . . . RAB43 179 0 117 28 0.193103448275862 TRUE TRUE +ENSG00000198836.10 . BCM GRCh38.p13 chr3 193643538 193643538 + C C G Nonsense_Mutation SNP ENST00000361828.7 exon13 c.C1223G p.S408X exonic ENSG00000198836.10 . stopgain ENSG00000198836.10:ENST00000361828.7:exon13:c.C1223G:p.S408X 3q29 C3N-00154 . . . . . . . . . 4.6 . . . . N A . . . 0.908 . . . . . . . . . D D . . 7.640 38 0.996 D N 1.189 22.756 1.059 23.050 1.000 0.732 0.744 0.725 0.714 . 5.790 5.790 7.819 1.015 0.599 0.976 1.000 0.999 958 Dynamin-type_guanine_nucleotide-binding_(G)_domain;Dynamin,_GTPase_domain . . . OPA1 256 0 230 39 0.144981412639405 TRUE TRUE +ENSG00000138768.14 . BCM GRCh38.p13 chr4 75771135 75771135 + G G A Missense_Mutation SNP ENST00000514213.6 exon7 c.G553A p.D185N exonic ENSG00000138768.14 . nonsynonymous SNV ENSG00000138768.14:ENST00000514213.6:exon7:c.G553A:p.D185N 4q21.1 C3N-00154 . . . . . . . . rs973827414 8.17 . T B B D D M . . 0.672 T T T 0.389 . 0.093 . D T T T D D 3.672 25.300 0.998 D D 0.408 4.391 0.509 5.239 1.000 0.732 0.744 0.725 0.714 . 5.440 5.440 6.177 1.176 0.676 1.000 1.000 0.991 919 . . . . USO1 60 0 56 15 0.211267605633803 TRUE NA +ENSG00000169288.18 . BCM GRCh38.p13 chr4 77883285 77883285 + G G C Missense_Mutation SNP ENST00000315567.13 exon3 c.G187C p.D63H exonic ENSG00000169288.18 . nonsynonymous SNV ENSG00000169288.18:ENST00000315567.13:exon3:c.G187C:p.D63H 4q21.1 C3N-00154 . . . . . . . . . 4.20 D D P P N N M T N 0.344 T T T 0.119 0.084 0.632 0.473 T T T T D T 2.515 22.500 0.961 N N -0.326 1.552 -0.371 1.425 0.984 0.732 0.744 0.710 0.714 . 6.140 3.460 0.872 1.144 0.675 0.582 0.870 0.456 694 . . . . MRPL1 82 0 67 15 0.182926829268293 TRUE TRUE +ENSG00000138640.15 . BCM GRCh38.p13 chr4 88787912 88787912 + C C G Missense_Mutation SNP ENST00000264344.10 exon10 c.G1112C p.R371P exonic ENSG00000138640.15 . nonsynonymous SNV ENSG00000138640.15:ENST00000264344.10:exon10:c.G1112C:p.R371P 4q22.1 C3N-00154 . . . . . . . . . 15.20 D D D D D D M T D 0.932 T T D 0.260 0.298 0.872 0.895 T T D D D D 4.050 27.300 0.997 D D 0.733 7.602 0.713 8.006 1.000 0.615 0.588 0.659 0.568 . 5.000 5.000 5.746 1.026 0.599 1.000 0.997 0.994 807 . . . . FAM13A 111 0 84 17 0.168316831683168 TRUE TRUE +ENSG00000179387.10 . BCM GRCh38.p13 chr4 140550252 140550252 + C C A Missense_Mutation SNP ENST00000323570.8 exon9 c.C759A p.D253E exonic ENSG00000179387.10 . nonsynonymous SNV ENSG00000179387.10:ENST00000323570.8:exon9:c.C759A:p.D253E 4q31.1 C3N-00154 . . . . . . . . . 13.20 D D D D D D M T D 0.640 T T T 0.388 0.643 0.480 0.281 T T D D D D 3.084 23.600 0.995 D N 0.507 5.089 0.430 4.578 0.914 0.651 0.634 0.602 0.684 . 5.970 3.360 1.179 1.005 0.599 1.000 1.000 1.000 934 ELMO_domain . . . ELMOD2 64 0 106 9 0.0782608695652174 TRUE TRUE +ENSG00000067248.10 . BCM GRCh38.p13 chr5 55281457 55281457 + A A T Nonsense_Mutation SNP ENST00000251636.10 exon12 c.T2024A p.L675X exonic ENSG00000067248.10 . stopgain ENSG00000067248.10:ENST00000251636.10:exon12:c.T2024A:p.L675X 5q11.2 C3N-00154 . . . . . . . . . 5.6 . . . . D A . . . 0.581 . . . . . . . . . D D . . 8.075 41 0.992 D N 0.956 12.592 0.844 11.557 1.000 0.732 0.744 0.744 0.714 . 5.520 5.520 8.808 1.312 0.756 1.000 0.998 0.998 489 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . DHX29 86 0 71 10 0.123456790123457 TRUE TRUE +ENSG00000113211.5 . BCM GRCh38.p13 chr5 141150273 141150273 + G G A Missense_Mutation SNP ENST00000231136.3 exon1 c.G16A p.V6I exonic ENSG00000113211.5 . nonsynonymous SNV ENSG00000113211.5:ENST00000231136.3:exon1:c.G16A:p.V6I 5q31.3 C3N-00154 8.363e-06 0 0 0 0 1.509e-05 0 0 rs782287939 0.14 T T . . . N . T N 0.031 T T T 0.007 0.211 0.238 . T . T T T . 0.130 2.377 0.415 N N -1.163 0.254 -1.207 0.277 0.952 0.487 0.574 0.578 0.542 . 4.670 -2.160 -0.025 -0.153 0.590 0.000 0.013 0.012 647 . . . . PCDHB6 77 0 45 11 0.196428571428571 TRUE NA +ENSG00000253159.3 . BCM GRCh38.p13 chr5 141432197 141432197 + G G A Missense_Mutation SNP ENST00000252085.4 exon1 c.G1438A p.D480N exonic ENSG00000253159.3 . nonsynonymous SNV ENSG00000253159.3:ENST00000252085.4:exon1:c.G1438A:p.D480N 5q31.3 C3N-00154 3.295e-05 0 0 0 0 0 0 0.0002 rs776132438 14.18 D D D D . D H T D 0.850 D D D 0.661 0.830 0.885 . . T T T D D 4.458 32 0.998 D D 0.839 9.593 0.630 6.624 1.000 0.652 0.588 0.576 0.710 . 4.990 4.990 9.889 1.176 0.676 1.000 0.988 0.995 813 Cadherin-like . . ID=COSV99342958;OCCURENCE=1(stomach) PCDHGA12 251 0 182 50 0.21551724137931 TRUE NA +ENSG00000113645.14 . BCM GRCh38.p13 chr5 168460686 168460686 + A A C Missense_Mutation SNP ENST00000265293.8 exon20 c.A2860C p.K954Q exonic ENSG00000113645.14 . nonsynonymous SNV ENSG00000113645.14:ENST00000265293.8:exon20:c.A2860C:p.K954Q 5q34 C3N-00154 . . . . . . . . . 12.20 D D D P D D M T D 0.514 T T D 0.223 0.186 0.562 0.921 T T T T D D 3.939 26.600 0.997 D D 0.515 5.158 0.583 6.015 1.000 0.732 0.537 0.744 0.621 . 5.830 5.830 7.374 1.312 0.756 1.000 1.000 0.998 953 . . . . WWC1 262 1 177 34 0.161137440758294 TRUE TRUE +ENSG00000124827.7 . BCM GRCh38.p13 chr6 10874518 10874525 + CAGCCATG CAGCCATG - Frame_Shift_Del DEL ENST00000379491.5 exon5 c.991_998del p.H331Efs*14 exonic ENSG00000124827.7 . frameshift deletion ENSG00000124827.7:ENST00000379491.5:exon5:c.991_998del:p.H331Efs*14 6p24.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GCM2 671 0 503 40 0.0736648250460405 TRUE TRUE +ENSG00000153157.13 . BCM GRCh38.p13 chr6 10898078 10898085 + TGATTTGT TGATTTGT - Frame_Shift_Del DEL ENST00000283141.11 exon5 c.404_411del p.L135Rfs*7 exonic ENSG00000153157.13 . frameshift deletion ENSG00000153157.13:ENST00000283141.11:exon5:c.404_411del:p.L135Rfs*7 6p24.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYCP2L 262 0 154 19 0.109826589595376 TRUE TRUE +ENSG00000137338.5 . BCM GRCh38.p13 chr6 28301505 28301505 + G G T Nonsense_Mutation SNP ENST00000259883.3 exon7 c.G1651T p.E551X exonic ENSG00000137338.5 . stopgain ENSG00000137338.5:ENST00000259883.3:exon7:c.G1651T:p.E551X 6p22.1 C3N-00154 . . . . . . . . . 4.6 . . . . N D . . . 0.154 . . . . . . . . . D D . . 7.271 37 0.997 D N 0.921 11.620 0.764 9.149 0.235 0.563 0.588 0.670 0.636 . 4.660 4.660 3.240 0.221 0.676 1.000 1.000 0.998 527 PiggyBac_transposable_element-derived_protein . . . PGBD1 176 0 168 32 0.16 TRUE TRUE +ENSG00000146410.12 . BCM GRCh38.p13 chr6 136241449 136241449 + T T A Missense_Mutation SNP ENST00000420702.6 exon5 c.A509T p.N170I exonic ENSG00000146410.12 . nonsynonymous SNV ENSG00000146410.12:ENST00000420702.6:exon5:c.A509T:p.N170I 6q23.3 C3N-00154 . . . . . . . . . 1.20 T T P P N D L T N 0.278 T T T 0.085 0.439 0.600 0.247 T T T T T T 1.514 15.820 0.963 N N -0.546 1.088 -0.709 0.886 0.988 0.732 0.709 0.744 0.684 . 4.870 -0.257 0.983 1.138 0.665 0.001 0.002 0.006 865 . . . . MTFR2 154 0 108 31 0.223021582733813 TRUE NA +ENSG00000205858.10 . BCM GRCh38.p13 chr7 16527010 16527010 + G G A Missense_Mutation SNP ENST00000401542.3 exon1 c.G58A p.A20T exonic ENSG00000205858.10 . nonsynonymous SNV ENSG00000205858.10:ENST00000401542.3:exon1:c.G58A:p.A20T 7p21.1 C3N-00154 . . . . . . . . . 0.17 T T . . . N N T N 0.049 T T T 0.047 0.339 0.055 . T T T T T T -0.014 1.252 0.945 N N -0.637 0.922 -0.762 0.811 0.000 0.487 0.574 0.574 0.613 . 4.430 1.560 -0.272 0.150 0.676 0.000 0.001 0.003 927 . . . . LRRC72 199 0 151 32 0.174863387978142 TRUE TRUE +ENSG00000106080.11 . BCM GRCh38.p13 chr7 30026498 30026498 + A A - Frame_Shift_Del DEL ENST00000222803.10 exon1 c.11delT p.F4Sfs*7 exonic ENSG00000106080.11 . frameshift deletion ENSG00000106080.11:ENST00000222803.10:exon1:c.11delT:p.F4Sfs*7 7p14.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FKBP14 54 0 47 23 0.328571428571429 TRUE TRUE +ENSG00000182111.9 . BCM GRCh38.p13 chr7 57468885 57468885 + T T A Missense_Mutation SNP ENST00000420713.2 exon4 c.T424A p.Y142N exonic ENSG00000182111.9 . nonsynonymous SNV ENSG00000182111.9:ENST00000420713.2:exon4:c.T424A:p.Y142N 7p11.2 C3N-00154 . . . . . . . . . 4.17 D T . . . N M T D 0.112 T T T 0.042 . 0.154 0.045 T T T T D T 2.165 20.600 0.925 N N -0.381 1.424 -0.684 0.923 0.000 0.487 0.574 0.574 0.564 . 0.195 0.195 -0.095 0.539 0.347 0.000 0.003 0.023 964 . . . . ZNF716 130 0 111 21 0.159090909090909 TRUE TRUE +ENSG00000067167.8 . BCM GRCh38.p13 chr8 70597951 70597955 + GACCA GACCA - Frame_Shift_Del DEL ENST00000262213.7 exon4 c.366_370del p.G123Afs*2 exonic ENSG00000067167.8 . frameshift deletion ENSG00000067167.8:ENST00000262213.7:exon4:c.366_370del:p.G123Afs*2 8q13.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAM1 167 0 157 9 0.0542168674698795 TRUE TRUE +ENSG00000147586.10 . BCM GRCh38.p13 chr8 80003068 80003068 + T T G Missense_Mutation SNP ENST00000276585.9 exon2 c.A326C p.E109A exonic ENSG00000147586.10;ENSG00000276418.5 . nonsynonymous SNV ENSG00000147586.10:ENST00000276585.9:exon2:c.A326C:p.E109A,ENSG00000276418.5:ENST00000522938.5:exon6:c.A668C:p.E223A 8q21.13 C3N-00154 . . . . . . . . . 6.20 T T B B N D M T D 0.518 T T T 0.176 0.629 0.470 0.375 T T T T D D 2.446 22.300 0.990 D N -0.557 1.067 -0.431 1.317 0.998 0.732 0.744 0.710 0.728 . 4.920 3.760 2.216 -0.152 -0.707 0.920 0.906 0.940 924 . . . . MRPS28 88 0 65 14 0.177215189873418 TRUE TRUE +ENSG00000147613.8 . BCM GRCh38.p13 chr8 86064581 86064581 + C C A Missense_Mutation SNP ENST00000276616.3 exon2 c.G236T p.R79M exonic ENSG00000147613.8 . nonsynonymous SNV ENSG00000147613.8:ENST00000276616.3:exon2:c.G236T:p.R79M 8q21.3 C3N-00154 . . . . . . . . . 7.19 T T D D . D L T N 0.774 T T T 0.236 0.541 0.617 0.428 T T T T D D 3.579 25.000 0.959 D D 0.639 6.349 0.639 6.746 1.000 0.487 0.574 0.547 0.542 . 5.130 5.130 5.554 0.877 0.549 1.000 0.977 0.981 487 Protein_kinase_domain;Protein_kinase,_ATP_binding_site . . . PSKH2 215 0 175 21 0.107142857142857 TRUE TRUE +ENSG00000132554.20 . BCM GRCh38.p13 chr8 100063726 100063726 + T T C Missense_Mutation SNP ENST00000360863.11 exon8 c.A1042G p.I348V exonic ENSG00000132554.20 . nonsynonymous SNV ENSG00000132554.20:ENST00000360863.11:exon8:c.A1042G:p.I348V 8q22.2 C3N-00154 6.636e-05 0 0 0.0002 0 9.003e-05 0 0 rs376054141 0.20 T T B B N N N T N 0.036 T T T 0.028 . 0.146 0.047 T T T T T T 0.090 2.007 0.240 N N -1.615 0.052 -1.498 0.109 0.000 0.497 0.547 0.547 0.542 . 5.150 0.099 0.298 -0.379 -0.120 0.057 0.001 0.070 0 . . . . RGS22 155 0 128 18 0.123287671232877 TRUE NA +ENSG00000179886.6 . BCM GRCh38.p13 chr8 143598098 143598098 + C C G Missense_Mutation SNP ENST00000504548.4 exon1 c.C195G p.I65M exonic ENSG00000179886.6 . nonsynonymous SNV ENSG00000179886.6:ENST00000504548.4:exon1:c.C195G:p.I65M 8q24.3 C3N-00154 . . . . . . . . . 7.18 D D . . U N M T N 0.381 T T D 0.338 . 0.490 1.945 D T D T D T 3.742 25.600 0.992 N N 0.470 4.811 0.399 4.349 1.000 0.267 0.219 0.520 0.250 . 4.310 4.310 1.391 0.913 0.417 1.000 1.000 0.997 964 DNA_binding_HTH_domain,_Psq-type . . . TIGD5 74 0 65 14 0.177215189873418 TRUE TRUE +ENSG00000104522.16 . BCM GRCh38.p13 chr8 143614894 143614894 + C C T Missense_Mutation SNP ENST00000425753.7 exon4 c.G283A p.D95N exonic ENSG00000104522.16 . nonsynonymous SNV ENSG00000104522.16:ENST00000425753.7:exon4:c.G283A:p.D95N 8q24.3 C3N-00154 . . . . . . . . rs1056240187 12.20 T T P P D D N D D 0.856 D D D 0.536 0.393 0.926 0.303 T D T T D D 3.262 24.000 0.998 D D 0.296 3.757 0.317 3.819 1.000 0.707 0.698 0.723 0.714 . 5.030 5.030 4.585 1.026 0.549 1.000 0.990 0.580 958 NAD-dependent_epimerase/dehydratase . . . TSTA3 94 0 66 12 0.153846153846154 TRUE NA +ENSG00000170631.15 . BCM GRCh38.p13 chr8 144932387 144932387 + C C T Missense_Mutation SNP ENST00000394909.7 exon3 c.G400A p.G134R exonic ENSG00000170631.15 . nonsynonymous SNV ENSG00000170631.15:ENST00000394909.7:exon3:c.G400A:p.G134R 8q24.3 C3N-00154 . . . . . . . . . 0.19 T T B B . N N T N 0.125 T T T 0.036 0.304 0.095 0.087 T T T T T T -0.020 1.218 0.195 N N -1.279 0.176 -1.297 0.211 0.049 0.651 0.546 0.651 0.492 . 3.710 0.853 -1.279 -0.520 -1.063 0.000 0.002 0.005 774 . . . . ZNF16 215 0 198 36 0.153846153846154 TRUE TRUE +ENSG00000083067.22 . BCM GRCh38.p13 chr9 70846387 70846387 + C C A Missense_Mutation SNP ENST00000357533.6 exon4 c.G673T p.V225F exonic ENSG00000083067.22 . nonsynonymous SNV ENSG00000083067.22:ENST00000357533.6:exon4:c.G673T:p.V225F 9q21.12 C3N-00154 . . . . . . . . rs1020949356 15.20 D D D D D D M T D 0.886 T T T 0.482 0.401 0.593 0.791 D T D D D D 3.686 25.400 0.994 D D 0.627 6.207 0.665 7.149 1.000 0.615 0.574 0.659 0.613 . 5.690 5.690 6.067 1.026 0.599 1.000 0.998 0.995 964 . . . . TRPM3 275 1 173 44 0.202764976958525 TRUE NA +ENSG00000107263.18 . BCM GRCh38.p13 chr9 131737409 131737409 + G G C Missense_Mutation SNP ENST00000372189.7 exon1 c.C6G p.D2E exonic ENSG00000107263.18 . nonsynonymous SNV ENSG00000107263.18:ENST00000372189.7:exon1:c.C6G:p.D2E 9q34.13 C3N-00154 . . . . . . . . . 1.18 T D B B . N N T N 0.087 T T T 0.028 0.073 0.528 . . T T T T T 0.035 1.571 0.872 N N -1.366 0.131 -1.417 0.143 1.000 0.581 0.517 0.576 0.192 . 2.400 -0.749 -0.193 -0.363 -0.161 0.000 0.001 0.016 318 . . . . RAPGEF1 253 0 156 32 0.170212765957447 TRUE TRUE +ENSG00000227345.8 . BCM GRCh38.p13 chr10 49819363 49819363 + A A C Missense_Mutation SNP ENST00000402038.7 exon19 c.T2908G p.S970A exonic ENSG00000227345.8 . nonsynonymous SNV ENSG00000227345.8:ENST00000402038.7:exon19:c.T2908G:p.S970A 10q11.23 C3N-00154 . . . . . . . . . 0.14 . T B B . . N . . 0.065 T T . 0.037 0.229 0.134 . T T T T T T 1.237 13.920 0.874 N N -0.978 0.428 -0.873 0.656 0.046 0.719 0.725 0.725 0.734 . 5.590 -1.850 0.398 -0.670 -0.156 0.971 0.052 0.413 934 . . . . PARG 158 0 91 24 0.208695652173913 TRUE TRUE +ENSG00000213341.11 . BCM GRCh38.p13 chr10 100190900 100190900 + T T C Missense_Mutation SNP ENST00000370397.8 exon20 c.A2177G p.E726G exonic ENSG00000213341.11 . nonsynonymous SNV ENSG00000213341.11:ENST00000370397.8:exon20:c.A2177G:p.E726G 10q24.31 C3N-00154 . . . . . . . . . 6.20 D T P P D D L T N 0.630 T T T 0.112 0.159 0.370 1.576 T T T T D T 3.853 26.100 0.997 D D 0.584 5.766 0.617 6.444 1.000 0.707 0.725 0.725 0.714 . 5.950 5.950 5.928 1.138 0.665 1.000 0.996 0.444 819 I-kappa-kinase-beta_NEMO_binding_domain . . . CHUK 305 1 226 57 0.201413427561837 TRUE TRUE +ENSG00000197142.10 . BCM GRCh38.p13 chr10 112408485 112408485 + T T - Frame_Shift_Del DEL ENST00000393081.5 exon6 c.496delT p.L166Wfs*18 exonic ENSG00000197142.10 . frameshift deletion ENSG00000197142.10:ENST00000393081.5:exon6:c.496delT:p.L166Wfs*18 10q25.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACSL5 239 0 159 14 0.0809248554913295 TRUE TRUE +ENSG00000279270.2 . BCM GRCh38.p13 chr11 4803651 4803651 + G G A Missense_Mutation SNP ENST00000624978.1 exon1 c.C730T p.R244C exonic ENSG00000279270.2 . nonsynonymous SNV ENSG00000279270.2:ENST00000624978.1:exon1:c.C730T:p.R244C 11p15.4 C3N-00154 5.768e-05 9.615e-05 8.651e-05 0 0 5.995e-05 0 6.058e-05 rs139182026 2.16 . . B B N D N . . . T T T 0.181 . . . T T T T T D 1.764 17.470 0.795 N N -1.015 0.389 -0.606 1.037 0.045 0.487 0.574 0.574 0.564 . 5.570 4.450 6.120 0.322 -0.046 1.000 0.965 0.726 840 GPCR,_rhodopsin-like,_7TM . . ID=COSV61888357;OCCURENCE=1(stomach) OR52R1 233 0 172 35 0.169082125603865 TRUE NA +ENSG00000010610.10 . BCM GRCh38.p13 chr12 6800430 6800430 + A A - Frame_Shift_Del DEL ENST00000011653.9 exon3 c.173delA p.Q58Rfs*2 exonic ENSG00000010610.10 . frameshift deletion ENSG00000010610.10:ENST00000011653.9:exon3:c.173delA:p.Q58Rfs*2 12p13.31 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD4 163 0 96 18 0.157894736842105 TRUE TRUE +ENSG00000111530.13 . BCM GRCh38.p13 chr12 67306568 67306568 + T T G Missense_Mutation SNP ENST00000545606.6 exon10 c.T2900G p.L967R exonic ENSG00000111530.13 . nonsynonymous SNV ENSG00000111530.13:ENST00000545606.6:exon10:c.T2900G:p.L967R 12q15 C3N-00154 . . . . . . . . . 17.20 D D D D D D M T D 0.912 T T D 0.786 0.697 0.878 1.833 D D D D D D 4.186 28.500 0.997 D D 0.869 10.287 0.820 10.731 1.000 0.707 0.725 0.702 0.714 . 5.760 5.760 7.958 1.138 0.609 1.000 0.999 0.979 928 . . . ID=COSV101607323;OCCURENCE=1(stomach) CAND1 85 0 72 22 0.234042553191489 TRUE TRUE +ENSG00000139767.10 . BCM GRCh38.p13 chr12 119156620 119156620 + G G A Missense_Mutation SNP ENST00000267260.5 exon13 c.G1658A p.R553Q exonic ENSG00000139767.10 . nonsynonymous SNV ENSG00000139767.10:ENST00000267260.5:exon13:c.G1658A:p.R553Q 12q24.23 C3N-00154 1.257e-05 0 0 0 0 2.3e-05 0 0 rs760836379 3.20 D T B B N N L T N 0.101 T T T 0.033 0.284 0.048 1.095 T T T T D T 2.730 22.900 0.977 D N -0.563 1.055 -0.447 1.290 1.000 0.487 0.574 0.441 0.563 . 3.670 1.690 2.325 1.158 0.650 1.000 0.663 0.312 958 . . . . SRRM4 429 0 296 51 0.146974063400576 TRUE NA +ENSG00000227059.7 . BCM GRCh38.p13 chr12 133226969 133226969 + C C T Missense_Mutation SNP ENST00000419717.3 exon5 c.G685A p.D229N exonic ENSG00000227059.7 . nonsynonymous SNV ENSG00000227059.7:ENST00000419717.3:exon5:c.G685A:p.D229N 12q24.33 C3N-00154 . . . . . . . . . 3.19 T T B B . N N D N 0.066 T D D 0.155 0.371 0.383 . T T T T T T 1.297 14.370 0.994 N N -0.800 0.655 -0.840 0.702 0.005 0.428 0.547 0.547 0.613 . 3.140 2.220 0.068 0.783 0.587 0.000 0.069 0.753 364 . . . . ANHX 83 0 69 6 0.08 TRUE NA +ENSG00000136169.16 . BCM GRCh38.p13 chr13 49480958 49480958 + G G C Missense_Mutation SNP ENST00000354234.8 exon9 c.G1034C p.C345S exonic ENSG00000136169.16 . nonsynonymous SNV ENSG00000136169.16:ENST00000354234.8:exon9:c.G1034C:p.C345S 13q14.2 C3N-00154 . . . . . . . . . 19.20 D D D D D D H D D 0.970 D D D 0.951 0.864 0.936 0.942 T D D D D D 4.208 28.700 0.995 D D 1.068 16.227 1.003 19.040 1.000 0.638 0.654 0.653 0.636 . 5.610 5.610 10.003 1.176 0.676 1.000 1.000 0.998 840 Pre-SET_domain . . . SETDB2 99 0 78 16 0.170212765957447 TRUE TRUE +ENSG00000125304.10 . BCM GRCh38.p13 chr13 99543906 99543906 + A A T Missense_Mutation SNP ENST00000376387.5 exon10 c.A1061T p.D354V exonic ENSG00000125304.10 . nonsynonymous SNV ENSG00000125304.10:ENST00000376387.5:exon10:c.A1061T:p.D354V 13q32.3 C3N-00154 . . . . . . . . . 17.20 D D D D D D H T D 0.983 D D D 0.842 0.780 0.839 2.059 T T D D D D 4.284 29.400 0.995 D D 1.115 18.157 1.018 19.979 1.000 0.722 0.699 0.725 0.714 . 5.780 5.780 9.325 1.312 0.756 1.000 1.000 1.000 449 . . . . TM9SF2 127 0 83 11 0.117021276595745 TRUE TRUE +ENSG00000175785.13 . BCM GRCh38.p13 chr14 93779282 93779282 + G G T Nonsense_Mutation SNP ENST00000393140.6 exon3 c.C123A p.C41X exonic ENSG00000175785.13 . stopgain ENSG00000175785.13:ENST00000393140.6:exon3:c.C123A:p.C41X 14q32.12 C3N-00154 . . . . . . . . . 5.6 . . . . D A . . . 0.881 . . . . . . . . . D D . . 7.657 39 0.994 D N 0.698 7.085 0.550 5.643 0.998 0.646 0.563 0.645 0.613 . 4.860 3.840 1.205 1.150 0.644 1.000 1.000 0.999 466 . . . ID=COSV60263549;OCCURENCE=2(thyroid) PRIMA1 191 0 94 41 0.303703703703704 TRUE TRUE +ENSG00000128731.18 . BCM GRCh38.p13 chr15 28215736 28215736 + C C G Missense_Mutation SNP ENST00000261609.13 exon39 c.G6095C p.S2032T exonic ENSG00000128731.18 . nonsynonymous SNV ENSG00000128731.18:ENST00000261609.13:exon39:c.G6095C:p.S2032T 15q13.1 C3N-00154 . . . . . . . . . 8.19 T . B B D D M T N 0.736 T T D 0.133 0.406 0.450 0.728 T T T T D D 2.179 20.700 0.960 D D -0.013 2.466 0.106 2.758 1.000 0.744 0.654 0.630 0.714 . 4.280 4.280 7.331 1.016 0.537 1.000 0.146 0.180 845 . . . . HERC2 521 0 379 40 0.0954653937947494 NA TRUE +ENSG00000137801.11 . BCM GRCh38.p13 chr15 39582562 39582562 + C C T Missense_Mutation SNP ENST00000260356.6 exon3 c.C437T p.A146V exonic ENSG00000137801.11 . nonsynonymous SNV ENSG00000137801.11:ENST00000260356.6:exon3:c.C437T:p.A146V 15q14 C3N-00154 . . . . . . . . . 2.20 T T B B N D N T N 0.232 T T T 0.032 0.331 0.110 0.431 T T T T T D 1.822 17.890 0.915 N N -0.654 0.892 -0.478 1.238 1.000 0.675 0.563 0.696 0.756 . 5.140 3.200 1.488 0.126 0.599 0.806 0.997 0.998 876 Laminin_G_domain . . . THBS1 269 0 190 31 0.14027149321267 TRUE TRUE +ENSG00000137806.9 . BCM GRCh38.p13 chr15 41394936 41394936 + C C T Missense_Mutation SNP ENST00000260361.9 exon3 c.G682A p.D228N exonic ENSG00000137806.9 . nonsynonymous SNV ENSG00000137806.9:ENST00000260361.9:exon3:c.G682A:p.D228N 15q15.1 C3N-00154 . . . . . . . . . 6.20 T T B B D D L T N 0.412 T T D 0.266 0.491 0.861 0.080 T T T T D T 1.561 16.130 0.994 D D -0.058 2.311 0.075 2.634 1.000 0.722 0.725 0.725 0.735 . 5.630 5.630 4.438 1.022 0.596 1.000 0.043 0.129 136 NADH:ubiquinone_oxidoreductase_intermediate-associated_protein_30 . . . NDUFAF1 466 0 351 58 0.141809290953545 TRUE TRUE +ENSG00000137857.17 . BCM GRCh38.p13 chr15 45139556 45139556 + G G A Missense_Mutation SNP ENST00000389037.7 exon12 c.G1346A p.R449H exonic ENSG00000137857.17 . nonsynonymous SNV ENSG00000137857.17:ENST00000389037.7:exon12:c.G1346A:p.R449H 15q21.1 C3N-00154 5.075e-05 0.0006 0 0 0 0 0 0 rs149693969 0.20 T T B B N N N T N 0.083 T T T 0.080 . 0.656 0.371 T T T T T T 1.413 15.170 0.977 N N -1.026 0.377 -0.969 0.528 0.314 0.554 0.588 0.576 0.542 . 5.100 -0.403 -0.818 -0.482 -0.679 0.000 0.825 0.928 620 Dual_oxidase,_peroxidase_domain . . . DUOX1 106 0 68 20 0.227272727272727 TRUE NA +ENSG00000081014.11 . BCM GRCh38.p13 chr15 50934665 50934665 + G G A Missense_Mutation SNP ENST00000261842.10 exon8 c.G911A p.R304Q exonic ENSG00000081014.11 . nonsynonymous SNV ENSG00000081014.11:ENST00000261842.10:exon8:c.G911A:p.R304Q 15q21.2 C3N-00154 1.672e-05 0 8.746e-05 0 0 1.523e-05 0 0 rs768086723 9.20 D T D P D D L T D 0.361 T T T 0.110 0.312 0.318 0.428 T T T T D D 4.697 32 0.994 D D 0.343 4.008 0.476 4.950 1.000 0.651 0.602 0.602 0.684 . 5.780 5.780 6.648 1.176 0.618 1.000 1.000 0.997 250 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . ID=COSV55915344;OCCURENCE=1(endometrium) AP4E1 58 0 82 20 0.196078431372549 TRUE TRUE +ENSG00000103351.13 . BCM GRCh38.p13 chr16 3504774 3504774 + A A C Missense_Mutation SNP ENST00000576634.6 exon2 c.A77C p.N26T exonic ENSG00000103351.13 . nonsynonymous SNV ENSG00000103351.13:ENST00000576634.6:exon2:c.A77C:p.N26T 16p13.3 C3N-00154 . . . . . . . . . 12.20 D D D D D D M T D 0.886 T T T 0.396 0.671 0.681 0.318 T T T T D D 3.212 23.900 0.996 D D 0.795 8.680 0.740 8.562 1.000 0.732 0.634 0.659 0.728 . 5.340 5.340 7.055 1.228 0.660 1.000 0.991 0.790 707 . . . . CLUAP1 203 0 152 32 0.173913043478261 TRUE TRUE +ENSG00000180269.8 . BCM GRCh38.p13 chr16 20032571 20032571 + C C A Missense_Mutation SNP ENST00000570682.2 exon2 c.G226T p.V76F exonic ENSG00000180269.8 . nonsynonymous SNV ENSG00000180269.8:ENST00000570682.2:exon2:c.G226T:p.V76F 16p12.3 C3N-00154 . . . . . . . . . 13.18 . T D D D D M T . 0.868 T T D 0.273 0.593 0.921 1.383 D T D D D D 3.787 25.800 0.996 D D 0.485 4.920 0.562 5.779 1.000 0.554 0.574 0.618 0.564 . 5.730 5.730 7.568 1.026 0.599 1.000 0.996 0.963 787 GPCR,_rhodopsin-like,_7TM . . . GPR139 185 0 127 32 0.20125786163522 TRUE TRUE +ENSG00000178188.14 . BCM GRCh38.p13 chr16 28869039 28869039 + G G C Missense_Mutation SNP ENST00000322610.12 exon6 c.G1075C p.V359L exonic ENSG00000178188.14 . nonsynonymous SNV ENSG00000178188.14:ENST00000322610.12:exon6:c.G1075C:p.V359L 16p11.2 C3N-00154 . . . . . . . . . 1.20 T T B B N N N T N 0.288 T T D 0.155 0.559 0.653 0.264 T T T T T T 0.388 5.289 0.920 N N -1.178 0.243 -1.191 0.291 0.000 0.707 0.725 0.725 0.714 . 4.830 -1.500 -0.126 -0.481 0.618 0.000 0.876 0.937 291 Pleckstrin_homology_domain . . . SH2B1 293 0 204 43 0.174089068825911 TRUE TRUE +ENSG00000103502.14 . BCM GRCh38.p13 chr16 29860596 29860596 + G G C Missense_Mutation SNP ENST00000219789.11 exon4 c.C399G p.I133M exonic ENSG00000103502.14 . nonsynonymous SNV ENSG00000103502.14:ENST00000219789.11:exon4:c.C399G:p.I133M 16p11.2 C3N-00154 . . . . . . . . . 5.20 T T P B D D L T N 0.594 T T T 0.038 0.549 0.590 0.372 T T T T D D 2.803 23.000 0.960 D N -0.034 2.392 0.120 2.818 1.000 0.719 0.723 0.725 0.714 . 5.100 4.130 2.081 1.176 0.676 1.000 1.000 0.987 239 . . . . CDIPT 203 0 119 26 0.179310344827586 TRUE TRUE +ENSG00000140853.15 . BCM GRCh38.p13 chr16 57043597 57043597 + G G T Missense_Mutation SNP ENST00000262510.10 exon20 c.G3196T p.D1066Y exonic ENSG00000140853.15 . nonsynonymous SNV ENSG00000140853.15:ENST00000262510.10:exon20:c.G3196T:p.D1066Y 16q13 C3N-00154 . . . . . . . . . 11.19 D D D D . N M T D 0.643 T T D 0.244 0.694 0.475 0.535 T T D T D D 4.143 28.100 0.987 D N -0.133 2.072 -0.250 1.670 1.000 0.646 0.696 0.609 0.655 . 4.150 3.190 1.765 0.228 -0.113 0.973 0.042 0.028 917 . . . . NLRC5 334 0 209 53 0.202290076335878 TRUE TRUE +ENSG00000240505.9 . BCM GRCh38.p13 chr17 16952542 16952542 + G G T Missense_Mutation SNP ENST00000261652.7 exon2 c.C103A p.P35T exonic ENSG00000240505.9 . nonsynonymous SNV ENSG00000240505.9:ENST00000261652.7:exon2:c.C103A:p.P35T 17p11.2 C3N-00154 8.244e-06 0 0 0 0 1.499e-05 0 0 rs753500225 12.20 T T D D N D M D D 0.273 D D D 0.428 0.383 0.852 0.082 T D D T D T 2.144 20.400 0.557 N N -0.014 2.462 -0.188 1.814 1.000 0.672 0.702 0.573 0.613 . 3.060 2.080 0.540 0.973 0.469 0.926 0.461 0.278 534 . . . . TNFRSF13B 580 0 395 109 0.216269841269841 TRUE NA +ENSG00000136436.14 . BCM GRCh38.p13 chr17 48852525 48852525 + A A C Missense_Mutation SNP ENST00000258947.7 exon8 c.A722C p.E241A exonic ENSG00000136436.14 . nonsynonymous SNV ENSG00000136436.14:ENST00000258947.7:exon8:c.A722C:p.E241A 17q21.32 C3N-00154 . . . . . . . . . 7.20 D T P P N D M T D 0.270 T T T 0.070 0.350 0.564 0.776 T T T T D D 3.791 25.800 0.982 D N 0.271 3.631 0.291 3.663 0.519 0.706 0.725 0.710 0.714 . 5.330 4.250 3.449 1.118 0.756 1.000 1.000 1.000 740 . . . . CALCOCO2 96 0 76 21 0.216494845360825 TRUE TRUE +ENSG00000006283.18 . BCM GRCh38.p13 chr17 50617924 50617924 + C C - Frame_Shift_Del DEL ENST00000359106.10 exon30 c.5221delC p.Q1742Rfs*52 exonic ENSG00000006283.18 . frameshift deletion ENSG00000006283.18:ENST00000359106.10:exon30:c.5221delC:p.Q1742Rfs*52 17q21.33 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1G 102 0 68 8 0.105263157894737 TRUE TRUE +ENSG00000141646.14 . BCM GRCh38.p13 chr18 51065534 51065534 + C C T Missense_Mutation SNP ENST00000342988.8 exon9 c.C1067T p.P356L exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon9:c.C1067T:p.P356L 18q21.2 C3N-00154 . . . . . . . . . 20.20 D D D D D D M D D 0.887 D D D 0.968 0.882 0.988 2.847 D D D D D D 4.016 27.100 0.999 D D 0.857 10.006 0.856 12.002 1.000 0.707 0.725 0.725 0.714 . 5.860 5.860 7.758 1.026 0.599 1.000 1.000 0.999 904 SMAD_domain,_Dwarfin-type . . ID=COSV61685209;OCCURENCE=1(oesophagus),15(large_intestine),1(biliary_tract),3(stomach),1(pancreas) SMAD4 210 0 135 48 0.262295081967213 TRUE TRUE +ENSG00000099822.3 . BCM GRCh38.p13 chr19 608177 608177 + G G C Missense_Mutation SNP ENST00000251287.3 exon4 c.G1432C p.E478Q exonic ENSG00000099822.3 . nonsynonymous SNV ENSG00000099822.3:ENST00000251287.3:exon4:c.G1432C:p.E478Q 19p13.3 C3N-00154 . . . . . . . . . 17.19 D D P B . D M D D 0.731 D D D 0.706 0.422 0.791 1.329 D D D D D D 3.594 25.000 0.998 D D 0.368 4.152 0.356 4.061 1.000 0.696 0.588 0.723 0.700 . 3.130 3.130 9.817 1.003 0.586 1.000 1.000 0.902 994 . . . . HCN2 209 0 144 28 0.162790697674419 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8954109 8954109 + C C A Missense_Mutation SNP ENST00000397910.8 exon3 c.G22661T p.S7554I exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.G22661T:p.S7554I 19p13.2 C3N-00154 . . . . . . . . . 2.15 D D . . . N . T N 0.067 T T T 0.037 0.226 0.126 . T . T T T T -0.994 0.008 0.446 N N -1.648 0.045 -1.791 0.035 0.146 0.554 0.574 0.618 0.564 . 2.980 -5.960 -3.074 -1.086 -2.240 0.000 0.000 0.000 911 . . . . MUC16 98 0 90 21 0.189189189189189 TRUE TRUE +ENSG00000105329.10 . BCM GRCh38.p13 chr19 41352959 41352959 + C C T Missense_Mutation SNP ENST00000221930.6 exon1 c.G86A p.G29E exonic ENSG00000105329.10 . nonsynonymous SNV ENSG00000105329.10:ENST00000221930.6:exon1:c.G86A:p.G29E 19q13.2 C3N-00154 0.0004 0.0012 0 0 0 0.0002 0 0.0004 rs199758510 4.16 D T . . N D . T N 0.419 T T D 0.076 . 0.409 1.451 T . T T T T 2.651 22.700 0.994 D N -0.153 2.014 -0.237 1.699 1.000 0.685 0.522 0.674 0.562 . 3.740 1.290 0.522 1.019 0.596 0.000 0.981 0.948 830 . . . ID=COSV54683559;OCCURENCE=3(breast),4(liver),1(large_intestine),1(ovary) TGFB1 201 0 147 19 0.114457831325301 TRUE TRUE +ENSG00000142556.19 . BCM GRCh38.p13 chr19 52016511 52016511 + G G A Nonsense_Mutation SNP ENST00000270649.11 exon5 c.C1087T p.R363X exonic ENSG00000142556.19 . stopgain ENSG00000142556.19:ENST00000270649.11:exon5:c.C1087T:p.R363X 19q13.41 C3N-00154 8.237e-06 0 8.637e-05 0 0 0 0 0 rs757156365 3.5 . . . . . D . . . 0.027 . . . . . . . . . D D . . 5.348 34 0.997 N N 0.177 3.203 -0.098 2.052 0.007 0.707 0.725 0.725 0.636 . 3.800 0.049 -2.987 0.889 0.520 0.000 0.997 0.995 988 Zinc_finger_C2H2-type . . . ZNF614 246 0 185 52 0.219409282700422 TRUE NA +ENSG00000129990.15 . BCM GRCh38.p13 chr19 55178213 55178213 + G G A Nonsense_Mutation SNP ENST00000354308.8 exon3 c.C235T p.Q79X exonic ENSG00000129990.15 . stopgain ENSG00000129990.15:ENST00000354308.8:exon3:c.C235T:p.Q79X 19q13.42 C3N-00154 . . . . . . . . . 4.6 . . . . N D . . . 0.148 . . . . . . . . . D D . . 8.222 41 0.997 D N 0.612 6.049 0.401 4.366 1.000 0.598 0.547 0.576 0.639 . 4.060 1.600 1.566 1.176 0.676 0.998 1.000 0.997 988 . . . . SYT5 116 0 81 24 0.228571428571429 TRUE TRUE +ENSG00000185792.10 . BCM GRCh38.p13 chr19 55738169 55738169 + C C T Nonsense_Mutation SNP ENST00000332836.7 exon1 c.G206A p.W69X exonic ENSG00000185792.10 . stopgain ENSG00000185792.10:ENST00000332836.7:exon1:c.G206A:p.W69X 19q13.42 C3N-00154 . . . . . . . . . 3.5 . . . . . A . . . 0.140 . . . . . . . . . D D . . 6.096 35 0.993 N N 0.433 4.558 0.181 3.092 0.000 0.487 0.574 0.574 0.564 . 3.630 3.630 0.832 0.826 0.596 0.151 0.194 0.088 851 DAPIN_domain . . ID=COSV60460821;OCCURENCE=1(large_intestine) NLRP9 418 0 309 78 0.201550387596899 TRUE TRUE +ENSG00000125814.17 . BCM GRCh38.p13 chr20 23381218 23381218 + C C T Missense_Mutation SNP ENST00000377026.4 exon8 c.G661A p.A221T exonic ENSG00000125814.17 . nonsynonymous SNV ENSG00000125814.17:ENST00000377026.4:exon8:c.G661A:p.A221T 20p11.21 C3N-00154 . . . . . . . . . 15.20 T T B B D D M D D 0.580 D D D 0.574 0.675 0.776 0.559 D T D D D D 2.703 22.800 0.997 D D 0.316 3.864 0.431 4.588 0.998 0.732 0.744 0.710 0.636 . 5.540 5.540 6.088 1.026 0.599 1.000 0.989 0.972 626 . . . . NAPB 110 0 101 7 0.0648148148148148 TRUE TRUE +ENSG00000101126.18 . BCM GRCh38.p13 chr20 50892517 50892517 + C C G Missense_Mutation SNP ENST00000621696.5 exon6 c.G2197C p.D733H exonic ENSG00000101126.18 . nonsynonymous SNV ENSG00000101126.18:ENST00000621696.5:exon6:c.G2197C:p.D733H 20q13.13 C3N-00154 . . . . . . . . . 5.19 T T B B N D L . N 0.314 T T T 0.101 0.200 0.415 . T T T T D D 2.643 22.700 0.990 D D 0.154 3.104 0.335 3.929 1.000 0.707 0.696 0.702 0.714 . 6.070 6.070 5.027 1.026 0.599 1.000 0.193 0.937 795 . . . . ADNP 223 1 183 42 0.186666666666667 TRUE TRUE +ENSG00000149657.20 . BCM GRCh38.p13 chr20 62133426 62133426 + C C T Missense_Mutation SNP ENST00000279068.11 exon8 c.C1123T p.P375S exonic ENSG00000149657.20 . nonsynonymous SNV ENSG00000149657.20:ENST00000279068.11:exon8:c.C1123T:p.P375S 20q13.33 C3N-00154 . . . . . . . . . 4.20 T T B B D D N T N 0.348 T T T 0.033 0.263 0.312 0.843 T T T T T D 2.956 23.300 0.995 D N -0.134 2.070 0.050 2.539 1.000 0.707 0.702 0.702 0.714 . 4.700 4.700 3.090 1.026 0.599 0.998 0.997 0.959 934 . . . . LSM14B 193 0 134 28 0.172839506172839 TRUE TRUE +ENSG00000189269.12 . BCM GRCh38.p13 chr22 23614212 23614213 + AA AA - Frame_Shift_Del DEL ENST00000317749.9 exon9 c.543_544del p.C182Ffs*2 exonic ENSG00000189269.12 . frameshift deletion ENSG00000189269.12:ENST00000317749.9:exon9:c.543_544del:p.C182Ffs*2 22q11.23 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DRICH1 188 0 104 13 0.111111111111111 TRUE TRUE +ENSG00000128342.5 . BCM GRCh38.p13 chr22 30243914 30243914 + G G - Frame_Shift_Del DEL ENST00000249075.4 exon3 c.346delC p.L116Wfs*51 exonic ENSG00000128342.5 . frameshift deletion ENSG00000128342.5:ENST00000249075.4:exon3:c.346delC:p.L116Wfs*51 22q12.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIF 685 0 550 61 0.0998363338788871 TRUE TRUE +ENSG00000094631.21 . BCM GRCh38.p13 chrX 48824247 48824247 + G G C Missense_Mutation SNP ENST00000334136.11 exon28 c.G3532C p.D1178H exonic ENSG00000094631.21 . nonsynonymous SNV ENSG00000094631.21:ENST00000334136.11:exon28:c.G3532C:p.D1178H Xp11.23 C3N-00154 . . . . . . . . . 14.19 D D D D D D M T D 0.858 T T D 0.498 0.654 0.921 0.406 T T D D D D 3.636 25.200 0.993 D . . . . . 1.000 . . . . . 5.270 4.410 8.823 1.172 0.612 1.000 0.931 0.759 7 Zinc_finger,_UBP-type . . . HDAC6 74 0 64 15 0.189873417721519 TRUE TRUE +ENSG00000198910.14 . BCM GRCh38.p13 chrX 153863549 153863549 + A A T Missense_Mutation SNP ENST00000370060.7 exon27 c.T3458A p.V1153E exonic ENSG00000198910.14 . nonsynonymous SNV ENSG00000198910.14:ENST00000370060.7:exon27:c.T3458A:p.V1153E Xq28 C3N-00154 . . . . . . . . . 18.19 D D D D D D M D D 0.562 D D D 0.859 0.283 0.991 1.882 T D D D D D 4.589 32 0.991 D . . . . . 1.000 . . . . . 4.570 4.570 9.142 1.312 0.750 1.000 0.995 0.914 153 Neurofascin/L1/NrCAM,_C-terminal_domain . . . L1CAM 297 0 143 69 0.325471698113208 TRUE TRUE +ENSG00000196924.18 . BCM GRCh38.p13 chrX 154348850 154348850 + C C G Nonstop_Mutation SNP ENST00000369850.10 exon48 c.G7943C p.X2648S exonic ENSG00000196924.18 . stoploss ENSG00000196924.18:ENST00000369850.10:exon48:c.G7943C:p.X2648S Xq28 C3N-00154 . . . . . . . . . 1.4 . . . . . N . . . 0.355 . . . . . . . . . T T . . 0.966 11.190 0.751 D . . . . . 1.000 . . . . 0.805 5.740 4.870 1.067 0.991 0.576 1.000 0.778 0.560 74 . . . . FLNA 43 0 26 11 0.297297297297297 TRUE TRUE +ENSG00000118492.17 . BCM GRCh38.p13 chr6 146740458 146740458 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000118492.17 ENST00000397944.8:exon24:c.2889-1G>A . . 6q24.3 C3N-00154 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.407 34 0.995 D . 1.196 23.369 1.060 23.165 0.996 0.061 0.063 0.063 0.057 0.980 5.850 5.850 7.554 1.176 0.676 1.000 0.986 0.982 656 . . . . ADGB 47 0 63 8 0.112676056338028 TRUE TRUE +ENSG00000159267.14 . BCM GRCh38.p13 chr21 36756531 36756541 + CCAGCACTGAC CCAGCACTGAC - Splice_Site DEL NA NA NA NA splicing ENSG00000159267.14 . . . 21q22.13 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLCS 305 0 251 14 0.0528301886792453 NA TRUE +ENSG00000176092.15 . BCM GRCh38.p13 chr1 26331534 26331534 + G G C Silent SNP ENST00000308182.9 exon15 c.C4269G p.G1423G exonic ENSG00000176092.15 . synonymous SNV ENSG00000176092.15:ENST00000308182.9:exon15:c.C4269G:p.G1423G 1p36.11 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRYBG2 188 0 120 9 0.0697674418604651 TRUE TRUE +ENSG00000073756.12 . BCM GRCh38.p13 chr1 186679068 186679068 + A A G Silent SNP ENST00000367468.10 exon3 c.T303C p.Y101Y exonic ENSG00000073756.12 . synonymous SNV ENSG00000073756.12:ENST00000367468.10:exon3:c.T303C:p.Y101Y 1q31.1 C3N-00154 2.488e-05 0 0 0 0 4.521e-05 0 0 rs147896616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTGS2 71 0 73 20 0.21505376344086 TRUE NA +ENSG00000176732.7 . BCM GRCh38.p13 chr2 24121274 24121274 + C C T Silent SNP ENST00000313213.5 exon3 c.G144A p.L48L exonic ENSG00000176732.7 . synonymous SNV ENSG00000176732.7:ENST00000313213.5:exon3:c.G144A:p.L48L 2p23.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PFN4 184 0 113 45 0.284810126582278 TRUE TRUE +ENSG00000168306.13 . BCM GRCh38.p13 chr3 58526654 58526654 + G G T Silent SNP ENST00000302819.10 exon10 c.C1158A p.L386L exonic ENSG00000168306.13 . synonymous SNV ENSG00000168306.13:ENST00000302819.10:exon10:c.C1158A:p.L386L 3p14.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACOX2 117 0 49 10 0.169491525423729 TRUE TRUE +ENSG00000169020.10 . BCM GRCh38.p13 chr4 672512 672512 + G G A Silent SNP ENST00000304312.5 exon4 c.C198T p.S66S exonic ENSG00000169020.10 . synonymous SNV ENSG00000169020.10:ENST00000304312.5:exon4:c.C198T:p.S66S 4p16.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99727505;OCCURENCE=1(endometrium) ATP5ME 231 0 150 46 0.23469387755102 TRUE TRUE +ENSG00000145147.20 . BCM GRCh38.p13 chr4 20549087 20549087 + T T A Silent SNP ENST00000504154.6 exon24 c.T2448A p.I816I exonic ENSG00000145147.20 . synonymous SNV ENSG00000145147.20:ENST00000504154.6:exon24:c.T2448A:p.I816I 4p15.31 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLIT2 112 0 83 12 0.126315789473684 TRUE TRUE +ENSG00000145934.16 . BCM GRCh38.p13 chr5 168090642 168090642 + G G C Silent SNP ENST00000518659.5 exon8 c.G1584C p.R528R exonic ENSG00000145934.16 . synonymous SNV ENSG00000145934.16:ENST00000518659.5:exon8:c.G1584C:p.R528R 5q34 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM2 272 0 192 49 0.203319502074689 TRUE TRUE +ENSG00000146414.16 . BCM GRCh38.p13 chr6 145941833 145941833 + A A G Silent SNP ENST00000275233.12 exon10 c.T2280C p.H760H exonic ENSG00000146414.16 . synonymous SNV ENSG00000146414.16:ENST00000275233.12:exon10:c.T2280C:p.H760H 6q24.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHPRH 152 0 137 14 0.0927152317880795 TRUE TRUE +ENSG00000198822.10 . BCM GRCh38.p13 chr7 86839132 86839132 + C C T Silent SNP ENST00000361669.6 exon4 c.C1618T p.L540L exonic ENSG00000198822.10 . synonymous SNV ENSG00000198822.10:ENST00000361669.6:exon4:c.C1618T:p.L540L 7q21.12 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRM3 313 0 233 69 0.228476821192053 TRUE TRUE +ENSG00000164715.6 . BCM GRCh38.p13 chr7 98193753 98193753 + C C T Silent SNP ENST00000297293.6 exon11 c.C3288T p.S1096S exonic ENSG00000164715.6 . synonymous SNV ENSG00000164715.6:ENST00000297293.6:exon11:c.C3288T:p.S1096S 7q21.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LMTK2 375 0 325 45 0.121621621621622 TRUE TRUE +ENSG00000104524.14 . BCM GRCh38.p13 chr8 143605787 143605787 + G G A Silent SNP ENST00000495276.6 exon6 c.C738T p.H246H exonic ENSG00000104524.14 . synonymous SNV ENSG00000104524.14:ENST00000495276.6:exon6:c.C738T:p.H246H 8q24.3 C3N-00154 5.907e-05 0 0 0.0001 0 9.249e-05 0 0 rs201683625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PYCR3 139 0 119 22 0.156028368794326 TRUE NA +ENSG00000165124.18 . BCM GRCh38.p13 chr9 110407410 110407410 + A A G Silent SNP ENST00000374469.6 exon38 c.T8190C p.F2730F exonic ENSG00000165124.18 . synonymous SNV ENSG00000165124.18:ENST00000374469.6:exon38:c.T8190C:p.F2730F 9q31.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SVEP1 352 0 236 50 0.174825174825175 TRUE TRUE +ENSG00000150054.18 . BCM GRCh38.p13 chr10 28059706 28059706 + A A G Silent SNP ENST00000337532.9 exon15 c.T1242C p.G414G exonic ENSG00000150054.18 . synonymous SNV ENSG00000150054.18:ENST00000337532.9:exon15:c.T1242C:p.G414G 10p12.1 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPP7 154 0 147 16 0.098159509202454 TRUE TRUE +ENSG00000179057.13 . BCM GRCh38.p13 chr11 18704492 18704492 + C C T Silent SNP ENST00000513874.5 exon23 c.G3957A p.Q1319Q exonic ENSG00000179057.13 . synonymous SNV ENSG00000179057.13:ENST00000513874.5:exon23:c.G3957A:p.Q1319Q 11p15.1 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF22 215 0 147 21 0.125 TRUE TRUE +ENSG00000019485.13 . BCM GRCh38.p13 chr11 45182919 45182919 + G G A Silent SNP ENST00000530656.5 exon4 c.G384A p.V128V exonic ENSG00000019485.13 . synonymous SNV ENSG00000019485.13:ENST00000530656.5:exon4:c.G384A:p.V128V 11p11.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM11 110 0 52 17 0.246376811594203 TRUE NA +ENSG00000172789.3 . BCM GRCh38.p13 chr12 54033506 54033506 + C C T Silent SNP ENST00000312492.2 exon1 c.C384T p.P128P exonic ENSG00000172789.3 . synonymous SNV ENSG00000172789.3:ENST00000312492.2:exon1:c.C384T:p.P128P 12q13.13 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXC5 146 1 97 14 0.126126126126126 TRUE TRUE +ENSG00000196510.12 . BCM GRCh38.p13 chr12 110387837 110387837 + C C T Silent SNP ENST00000455511.7 exon5 c.G678A p.V226V exonic ENSG00000196510.12 . synonymous SNV ENSG00000196510.12:ENST00000455511.7:exon5:c.G678A:p.V226V 12q24.11 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANAPC7 229 0 145 23 0.136904761904762 TRUE TRUE +ENSG00000176915.15 . BCM GRCh38.p13 chr12 132741420 132741420 + C C T Silent SNP ENST00000357997.10 exon7 c.G1419A p.K473K exonic ENSG00000176915.15 . synonymous SNV ENSG00000176915.15:ENST00000357997.10:exon7:c.G1419A:p.K473K 12q24.33 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100514269;OCCURENCE=1(endometrium) ANKLE2 95 0 55 15 0.214285714285714 TRUE TRUE +ENSG00000184185.10 . BCM GRCh38.p13 chr17 21415843 21415843 + C C A Silent SNP ENST00000583088.6 exon3 c.C501A p.I167I exonic ENSG00000184185.10 . synonymous SNV ENSG00000184185.10:ENST00000583088.6:exon3:c.C501A:p.I167I 17p11.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNJ12 161 0 157 15 0.0872093023255814 NA TRUE +ENSG00000173065.13 . BCM GRCh38.p13 chr17 28759335 28759335 + C C T Silent SNP ENST00000581407.5 exon3 c.G624A p.L208L exonic ENSG00000173065.13 . synonymous SNV ENSG00000173065.13:ENST00000581407.5:exon3:c.G624A:p.L208L 17q11.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM222B 175 0 98 26 0.209677419354839 TRUE TRUE +ENSG00000064300.9 . BCM GRCh38.p13 chr17 49506624 49506624 + C C T Silent SNP ENST00000172229.8 exon3 c.C534T p.R178R exonic ENSG00000064300.9 . synonymous SNV ENSG00000064300.9:ENST00000172229.8:exon3:c.C534T:p.R178R 17q21.33 C3N-00154 . . . . . . . . rs768597889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50803210;OCCURENCE=1(large_intestine) NGFR 118 1 92 15 0.14018691588785 TRUE TRUE +ENSG00000160392.13 . BCM GRCh38.p13 chr19 40326419 40326419 + C C T Silent SNP ENST00000582783.5 exon7 c.G618A p.E206E exonic ENSG00000160392.13 . synonymous SNV ENSG00000160392.13:ENST00000582783.5:exon7:c.G618A:p.E206E 19q13.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf47 262 0 170 41 0.194312796208531 TRUE TRUE +ENSG00000090006.18 . BCM GRCh38.p13 chr19 40605045 40605045 + C C G Silent SNP ENST00000308370.11 exon5 c.C462G p.P154P exonic ENSG00000090006.18 . synonymous SNV ENSG00000090006.18:ENST00000308370.11:exon5:c.C462G:p.P154P 19q13.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LTBP4 115 0 71 15 0.174418604651163 TRUE TRUE +ENSG00000159882.13 . BCM GRCh38.p13 chr19 44010771 44010771 + A A G Silent SNP ENST00000429154.7 exon5 c.A732G p.K244K exonic ENSG00000159882.13 . synonymous SNV ENSG00000159882.13:ENST00000429154.7:exon5:c.A732G:p.K244K 19q13.31 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF230 300 0 254 47 0.156146179401993 TRUE TRUE +ENSG00000237452.3 . BCM GRCh38.p13 chr19 45754552 45754552 + C C G Silent SNP ENST00000457052.3 exon7 c.C630G p.S210S exonic ENSG00000237452.3 . synonymous SNV ENSG00000237452.3:ENST00000457052.3:exon7:c.C630G:p.S210S 19q13.32 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BHMG1 300 0 233 58 0.199312714776632 TRUE TRUE +ENSG00000105383.15 . BCM GRCh38.p13 chr19 51225489 51225489 + G G C Silent SNP ENST00000262262.5 exon2 c.G309C p.L103L exonic ENSG00000105383.15 . synonymous SNV ENSG00000105383.15:ENST00000262262.5:exon2:c.G309C:p.L103L 19q13.41 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD33 78 0 72 14 0.162790697674419 NA TRUE +ENSG00000198300.14 . BCM GRCh38.p13 chr19 56815571 56815571 + A A G Silent SNP ENST00000326441.15 exon10 c.T2871C p.F957F exonic ENSG00000198300.14 . synonymous SNV ENSG00000198300.14:ENST00000326441.15:exon10:c.T2871C:p.F957F 19q13.43 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PEG3 89 0 63 24 0.275862068965517 TRUE NA +ENSG00000188917.15 . BCM GRCh38.p13 chrX 101019291 101019291 + G G A Silent SNP ENST00000372936.4 exon12 c.C1281T p.A427A exonic ENSG00000188917.15 . synonymous SNV ENSG00000188917.15:ENST00000372936.4:exon12:c.C1281T:p.A427A Xq22.1 C3N-00154 2.297e-05 0 0.0001 0.0002 0 0 0 0 rs757906963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58618881;OCCURENCE=1(large_intestine) TRMT2B 76 0 50 31 0.382716049382716 TRUE TRUE +ENSG00000138036.18 . BCM GRCh38.p13 chr2 43794646 43794646 + G G T Intron SNP NA NA NA NA intronic ENSG00000138036.18 . . . 2p21 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNC2LI1 171 0 127 46 0.265895953757225 TRUE NA +ENSG00000203875.13 . BCM GRCh38.p13 chr6 85677340 85677340 + T T G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000203875.13 . . . 6q14.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNHG5 121 0 105 6 0.0540540540540541 TRUE NA +ENSG00000138162.19 . BCM GRCh38.p13 chr10 122254128 122254128 + T T G 3'UTR SNP NA NA NA NA UTR3 ENSG00000138162.19 ENST00000369005.6:c.*72T>G . . 10q26.13 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TACC2 120 0 80 14 0.148936170212766 TRUE TRUE +ENSG00000134780.10 . BCM GRCh38.p13 chr11 61731314 61731314 + - NA AGCA Intron INS NA NA NA NA intronic ENSG00000134780.10 . . . 11q12.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DAGLA NA NA NA NA NA NA NA +ENSG00000211829.9 . BCM GRCh38.p13 chr14 22465891 22465891 + G G A 3'Flank SNP NA NA NA NA downstream ENSG00000211829.9 dist=104 . . 14q11.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRDC 91 0 61 22 0.265060240963855 TRUE NA +ENSG00000165410.15 . BCM GRCh38.p13 chr14 34712232 34712232 + G G C 3'UTR SNP NA NA NA NA UTR3 ENSG00000165410.15 ENST00000298159.11:c.*633C>G . . 14q13.1 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFL2 131 0 163 19 0.104395604395604 TRUE NA +ENSG00000205562.3 . BCM GRCh38.p13 chr14 85528732 85528732 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000205562.3;ENSG00000258945.1 . . . 14q31.3 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL049775.1 239 0 128 28 0.179487179487179 TRUE NA +ENSG00000132382.14 . BCM GRCh38.p13 chr17 4548494 4548494 + C C T Intron SNP NA NA NA NA intronic ENSG00000132382.14 . . . 17p13.2 C3N-00154 1.649e-05 0 0 0 0 1.501e-05 0.0011 0 rs746082107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYBBP1A 475 0 317 71 0.182989690721649 TRUE NA +ENSG00000133030.21 . BCM GRCh38.p13 chr17 17167450 17167450 + G G T Intron SNP NA NA NA NA intronic ENSG00000133030.21 . . . 17p11.2 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPRIP 347 0 270 57 0.174311926605505 TRUE NA +ENSG00000012048.23 . BCM GRCh38.p13 chr17 43045382 43045382 + A A C 3'UTR SNP NA NA NA NA UTR3 ENSG00000012048.23 ENST00000357654.9:c.*296T>G . . 17q21.31 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRCA1 160 0 125 19 0.131944444444444 TRUE NA +ENSG00000169660.16 . BCM GRCh38.p13 chr17 82442405 82442405 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000169660.16 ENST00000327949.14:c.*21G>A . . 17q25.3 C3N-00154 . . . . . . . . . 1.15 D T . . . N . T N 0.182 T T T 0.012 0.437 0.092 0.255 T . T T T T 1.136 13.110 0.490 N N -1.090 0.315 -1.240 0.251 0.993 0.490 0.714 0.607 0.636 . 1.830 -1.880 -0.170 0.798 0.430 0.001 0.004 0.013 . . . . . HEXD 197 0 129 19 0.128378378378378 TRUE TRUE +ENSG00000269696.2 . BCM GRCh38.p13 chr19 56550636 56550636 + C C G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000269696.2 . . . 19q13.43 C3N-00154 . . . . . . . . . 1.9 . D . . . N . T . 0.124 . . T . . 0.535 . . . T T . T -0.002 1.320 0.450 N N . . . . 0.000 0.487 0.574 0.464 0.714 . 3.350 -0.628 0.068 -0.660 -0.172 0.000 0.000 0.001 988 . . . . AC005498.3 403 0 326 61 0.157622739018088 TRUE TRUE +ENSG00000215529.12 . BCM GRCh38.p13 chr20 32930422 32930422 + C C T IGR SNP NA NA NA NA intergenic ENSG00000215529.12;ENSG00000167098.12 dist=51611;dist=53353 . . 20q11.21 C3N-00154 . . . . . . . . . 3.7 . D . . . . . . . 0.251 . . . . . 0.475 . . . T T D T 2.746 22.900 0.998 D N -0.249 1.744 -0.198 1.791 0.001 0.497 0.590 0.547 0.542 . 4.550 3.610 1.940 0.118 -0.204 1.000 0.969 0.566 138 . . . ID=COSV71371333;OCCURENCE=1(oesophagus) EFCAB8 178 0 138 39 0.220338983050847 TRUE TRUE +ENSG00000124224.17 . BCM GRCh38.p13 chr20 58246080 58246080 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000124224.17 . . . 20q13.32 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP4R1L 390 0 272 56 0.170731707317073 TRUE NA +ENSG00000101204.17 . BCM GRCh38.p13 chr20 63346433 63346433 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000101204.17 ENST00000370263.9:c.*305G>A . . 20q13.33 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHRNA4 663 0 452 95 0.173674588665448 TRUE NA +ENSG00000160219.12 . BCM GRCh38.p13 chrX 154679047 154679047 + C C T Intron SNP NA NA NA NA intronic ENSG00000160219.12 . . . Xq28 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GAB3 29 0 13 8 0.380952380952381 TRUE TRUE +ENSG00000186919.13 . BCM GRCh38.p13 chr17 76081981 76081982 + GC GC CT Unknown MNP ENST00000334586.10 exon8 c.980_981delinsCT p.S327T exonic ENSG00000186919.13 . nonframeshift substitution ENSG00000186919.13:ENST00000334586.10:exon8:c.980_981delinsCT:p.S327T 17q25.1 C3N-00154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZACN 208 0 157 30 0.160427807486631 TRUE NA +ENSG00000162493.16 . BCM GRCh38.p13 chr1 13610514 13610514 + C C T Missense_Mutation SNP ENST00000621990.4 exon3 c.C329T p.T110M exonic ENSG00000162493.16 . nonsynonymous SNV ENSG00000162493.16:ENST00000621990.4:exon3:c.C329T:p.T110M 1p36.21 C3N-00168 3.306e-05 9.692e-05 0 0 0 3.008e-05 0 6.078e-05 rs368396279 0.20 T T B B N N N T N 0.165 T T T 0.079 . 0.216 0.158 T T T T T T -1.169 0.003 0.548 N N -2.413 0.001 -2.542 0.001 1.000 0.707 0.574 0.725 0.564 . 4.160 -8.310 -6.780 -2.199 -1.992 0.000 0.000 0.001 982 . . . . PDPN 103 1 106 14 0.116666666666667 TRUE NA +ENSG00000117245.12 . BCM GRCh38.p13 chr1 20690334 20690334 + T T C Missense_Mutation SNP ENST00000247986.2 exon7 c.A1235G p.E412G exonic ENSG00000117245.12 . nonsynonymous SNV ENSG00000117245.12:ENST00000247986.2:exon7:c.A1235G:p.E412G 1p36.12 C3N-00168 8.82e-06 0 0 0 0 1.612e-05 0 0 rs758439125 10.20 D D P P U D L T D 0.743 T T D 0.493 0.259 0.833 0.608 T T D D D T 4.129 28.000 0.998 D D 0.404 4.369 0.377 4.199 1.000 0.706 0.574 0.710 0.613 . 4.530 4.530 6.810 1.138 0.609 1.000 0.977 0.665 789 . . . ID=COSV99929472;OCCURENCE=1(ovary) KIF17 41 0 59 7 0.106060606060606 TRUE NA +ENSG00000172260.15 . BCM GRCh38.p13 chr1 71935204 71935204 + G G T Missense_Mutation SNP ENST00000357731.10 exon2 c.C284A p.T95K exonic ENSG00000172260.15 . nonsynonymous SNV ENSG00000172260.15:ENST00000357731.10:exon2:c.C284A:p.T95K 1p31.1 C3N-00168 . . . . . . . . . 4.20 T T P B D D L T N 0.355 T T T 0.121 0.367 0.261 0.725 T T T T D T 2.774 23.000 0.975 D N 0.110 2.926 0.288 3.646 0.126 0.693 0.574 0.653 0.564 . 5.710 5.710 4.066 1.176 0.676 1.000 1.000 0.997 668 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . NEGR1 347 0 374 40 0.0966183574879227 TRUE TRUE +ENSG00000162692.12 . BCM GRCh38.p13 chr1 100723319 100723319 + G G C Missense_Mutation SNP ENST00000294728.7 exon3 c.G640C p.V214L exonic ENSG00000162692.12 . nonsynonymous SNV ENSG00000162692.12:ENST00000294728.7:exon3:c.G640C:p.V214L 1p21.2 C3N-00168 . . . . . . . . . 1.20 T D B B N N L T N 0.144 T T T 0.018 0.418 0.068 0.157 T T T T T T 0.658 8.066 0.673 N N -1.091 0.314 -1.103 0.373 0.852 0.638 0.628 0.618 0.668 . 5.420 1.530 0.598 -0.072 -0.194 0.000 0.011 0.002 430 Immunoglobulin_C2-set . . . VCAM1 68 0 55 15 0.214285714285714 TRUE TRUE +ENSG00000143105.7 . BCM GRCh38.p13 chr1 110517466 110517466 + C C A Missense_Mutation SNP ENST00000369771.4 exon1 c.G1322T p.C441F exonic ENSG00000143105.7 . nonsynonymous SNV ENSG00000143105.7:ENST00000369771.4:exon1:c.G1322T:p.C441F 1p13.3 C3N-00168 . . . . . . . . . 20.20 D D D D D D M D D 0.901 D D D 0.942 0.809 0.962 0.307 D D D D D D 3.909 26.400 0.992 D D 0.925 11.711 0.873 12.641 1.000 0.487 0.547 0.492 0.564 . 5.650 5.650 7.905 1.026 0.599 1.000 0.741 0.717 519 Ion_transport_domain . . . KCNA10 167 0 174 21 0.107692307692308 TRUE TRUE +ENSG00000134308.14 . BCM GRCh38.p13 chr2 9587443 9587443 + T T C Missense_Mutation SNP ENST00000238081.8 exon5 c.A649G p.I217V exonic ENSG00000134308.14 . nonsynonymous SNV ENSG00000134308.14:ENST00000238081.8:exon5:c.A649G:p.I217V 2p25.1 C3N-00168 . . . . . . . . . 13.20 D D P B D D H T N 0.522 T T D 0.463 0.768 0.809 0.711 D T D D D D 3.750 25.600 0.998 D D 0.638 6.336 0.672 7.264 1.000 0.732 0.744 0.725 0.646 . 5.730 5.730 7.997 1.138 0.665 1.000 1.000 0.998 627 14-3-3_protein,_conserved_site;14-3-3_domain . . . YWHAQ 115 0 76 29 0.276190476190476 TRUE TRUE +ENSG00000084674.15 . BCM GRCh38.p13 chr2 21007501 21007501 + G G - Frame_Shift_Del DEL ENST00000233242.5 exon26 c.9367delC p.L3123Wfs*4 exonic ENSG00000084674.15 . frameshift deletion ENSG00000084674.15:ENST00000233242.5:exon26:c.9367delC:p.L3123Wfs*4 2p24.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APOB 196 0 161 18 0.100558659217877 TRUE TRUE +ENSG00000074047.21 . BCM GRCh38.p13 chr2 120986342 120986342 + C C A Missense_Mutation SNP ENST00000452319.5 exon13 c.C2021A p.A674D exonic ENSG00000074047.21 . nonsynonymous SNV ENSG00000074047.21:ENST00000452319.5:exon13:c.C2021A:p.A674D 2q14.2 C3N-00168 8.476e-06 0 0 0 0 1.553e-05 0 0 rs773562626 9.20 D T D B N D M T D 0.630 T T T 0.107 0.186 0.449 0.925 T D T T D D 2.285 21.500 0.995 D N 0.097 2.872 0.052 2.546 0.985 0.707 0.590 0.725 0.613 . 4.740 0.668 2.193 1.026 0.599 1.000 1.000 0.998 697 . . . . GLI2 141 0 130 19 0.12751677852349 TRUE NA +ENSG00000196151.10 . BCM GRCh38.p13 chr2 159236036 159236036 + C C A Missense_Mutation SNP ENST00000409990.7 exon11 c.G1428T p.K476N exonic ENSG00000196151.10 . nonsynonymous SNV ENSG00000196151.10:ENST00000409990.7:exon11:c.G1428T:p.K476N 2q24.2 C3N-00168 . . . . . . . . . 7.19 D D B B D N . T N 0.176 T T D 0.041 0.496 0.256 0.472 T T T T D D 2.341 21.800 0.997 D N -0.556 1.069 -0.437 1.306 0.996 0.732 0.744 0.602 0.636 . 6.170 2.530 0.938 -0.480 -0.218 1.000 0.739 0.617 660 U_box_domain . . . WDSUB1 59 0 51 8 0.135593220338983 TRUE TRUE +ENSG00000144290.17 . BCM GRCh38.p13 chr2 161882377 161882377 + G G T Missense_Mutation SNP ENST00000446997.6 exon10 c.G1127T p.G376V exonic ENSG00000144290.17 . nonsynonymous SNV ENSG00000144290.17:ENST00000446997.6:exon10:c.G1127T:p.G376V 2q24.2 C3N-00168 . . . . . . . . . 20.20 D D D D D D M D D 0.965 D D D 0.951 0.938 0.961 1.394 D D D D D D 4.119 27.900 0.998 D D 1.090 17.102 1.008 19.369 1.000 0.554 0.574 0.618 0.564 . 5.460 5.460 10.003 1.176 0.676 1.000 1.000 0.998 688 Band_3_cytoplasmic_domain . . . SLC4A10 117 0 116 19 0.140740740740741 TRUE TRUE +ENSG00000168530.16 . BCM GRCh38.p13 chr2 210314999 210314999 + G G A Missense_Mutation SNP ENST00000352451.4 exon1 c.C44T p.A15V exonic ENSG00000168530.16 . nonsynonymous SNV ENSG00000168530.16:ENST00000352451.4:exon1:c.C44T:p.A15V 2q34 C3N-00168 2.53e-05 0 0 0 0 4.605e-05 0 0 rs762562092 3.20 T T P B N N L D N 0.457 T T D 0.376 0.404 0.850 0.075 T T T T T T 1.773 17.530 0.986 D N 0.088 2.839 0.068 2.606 0.230 0.487 0.574 0.574 0.564 . 4.060 4.060 5.254 1.076 0.574 1.000 0.092 0.022 616 . . . . MYL1 158 0 182 19 0.0945273631840796 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146578 10146578 + - NA T Frame_Shift_Ins NA ENST00000256474.3 exon2 c.406dupT p.V137Cfs*7 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon2:c.406dupT:p.V137Cfs*7 3p25.3 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000183873.17 . BCM GRCh38.p13 chr3 38599025 38599025 + C C T Missense_Mutation SNP ENST00000333535.9 exon13 c.G1916A p.G639E exonic ENSG00000183873.17 . nonsynonymous SNV ENSG00000183873.17:ENST00000333535.9:exon13:c.G1916A:p.G639E 3p22.2 C3N-00168 . . . . . . . . . 6.20 T T B B N N L D N 0.366 T D D 0.483 0.377 0.699 0.511 T T D T T D 1.803 17.750 0.874 D N -0.376 1.437 -0.256 1.658 0.004 0.615 0.574 0.659 0.568 . 4.170 1.910 2.104 1.026 0.599 1.000 0.550 0.221 612 Voltage-gated_Na+_ion_channel,_cytoplasmic_domain . . . SCN5A 66 0 44 5 0.102040816326531 TRUE TRUE +ENSG00000114767.7 . BCM GRCh38.p13 chr3 51937201 51937201 + T T C Missense_Mutation SNP ENST00000232888.7 exon6 c.A508G p.I170V exonic ENSG00000114767.7 . nonsynonymous SNV ENSG00000114767.7:ENST00000232888.7:exon6:c.A508G:p.I170V 3p21.2 C3N-00168 . . . . . . . . . 2.20 T T P B N D L T N 0.266 T T T 0.075 0.514 0.512 0.439 T T T T T T 1.523 15.880 0.972 D N -0.331 1.540 -0.229 1.719 1.000 0.719 0.723 0.725 0.714 . 5.120 3.960 2.154 -0.220 -0.693 1.000 0.983 0.822 263 WD40-repeat-containing_domain . . . RRP9 109 0 50 27 0.350649350649351 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52550755 52550755 + - NA A Frame_Shift_Ins NA ENST00000296302.11 exon28 c.4671dupT p.G1558Wfs*58 exonic ENSG00000163939.18 . frameshift insertion ENSG00000163939.18:ENST00000296302.11:exon28:c.4671dupT:p.G1558Wfs*58 3p21.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 NA NA NA NA NA NA NA +ENSG00000178700.8 . BCM GRCh38.p13 chr3 94061195 94061195 + A A G Missense_Mutation SNP ENST00000314636.2 exon2 c.T317C p.L106S exonic ENSG00000178700.8 . nonsynonymous SNV ENSG00000178700.8:ENST00000314636.2:exon2:c.T317C:p.L106S 3q11.2 C3N-00168 . . . . . . . . . 7.19 D T D D U D . T D 0.349 T T T 0.376 0.468 0.818 0.884 T T T T D T 3.011 23.400 0.998 D N 0.232 3.447 0.079 2.648 1.000 0.651 0.628 0.602 0.684 . 1.250 1.250 3.481 0.490 0.558 1.000 0.398 0.972 631 Dihydrofolate_reductase_domain . . . DHFR2 276 0 194 29 0.130044843049327 NA TRUE +ENSG00000080224.17 . BCM GRCh38.p13 chr3 97243994 97243994 + A A - Frame_Shift_Del DEL ENST00000389672.9 exon5 c.1313delA p.T439Qfs*23 exonic ENSG00000080224.17 . frameshift deletion ENSG00000080224.17:ENST00000389672.9:exon5:c.1313delA:p.T439Qfs*23 3q11.2 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPHA6 85 0 63 21 0.25 TRUE TRUE +ENSG00000172061.9 . BCM GRCh38.p13 chr3 194360188 194360188 + G G A Missense_Mutation SNP ENST00000347624.4 exon2 c.C856T p.P286S exonic ENSG00000172061.9 . nonsynonymous SNV ENSG00000172061.9:ENST00000347624.4:exon2:c.C856T:p.P286S 3q29 C3N-00168 . . . . . . . . . 6.19 T T D D . D L T N 0.177 T T T 0.117 0.411 0.820 . T T T T D T 2.710 22.800 0.994 D D 0.322 3.895 0.340 3.956 1.000 0.554 0.590 0.602 0.530 . 5.150 5.150 2.630 1.176 0.676 0.998 0.443 0.736 845 . . . . LRRC15 172 0 199 19 0.0871559633027523 TRUE TRUE +ENSG00000170871.12 . BCM GRCh38.p13 chr4 6861104 6861114 + CCACTGTGCAT CCACTGTGCAT - Frame_Shift_Del DEL ENST00000307659.6 exon7 c.722_732del p.T241Rfs*16 exonic ENSG00000170871.12 . frameshift deletion ENSG00000170871.12:ENST00000307659.6:exon7:c.722_732del:p.T241Rfs*16 4p16.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA0232 194 0 183 39 0.175675675675676 TRUE TRUE +ENSG00000164171.11 . BCM GRCh38.p13 chr5 53075122 53075122 + G G C Missense_Mutation SNP ENST00000296585.10 exon22 c.G2726C p.S909T exonic ENSG00000164171.11 . nonsynonymous SNV ENSG00000164171.11:ENST00000296585.10:exon22:c.G2726C:p.S909T 5q11.2 C3N-00168 . . . . . . . . . 1.15 T T . . N N . T N 0.124 T T T 0.058 0.479 0.769 0.212 T . T T T . 1.531 15.930 0.777 D N -0.367 1.457 -0.269 1.629 0.987 0.707 0.590 0.653 0.714 . 6.060 -0.165 0.680 -0.101 0.676 1.000 0.714 0.911 848 . . . . ITGA2 322 0 193 16 0.076555023923445 TRUE TRUE +ENSG00000172869.14 . BCM GRCh38.p13 chr5 119170301 119170301 + A A T Missense_Mutation SNP ENST00000311085.8 exon24 c.A5510T p.H1837L exonic ENSG00000172869.14 . nonsynonymous SNV ENSG00000172869.14:ENST00000311085.8:exon24:c.A5510T:p.H1837L 5q23.1 C3N-00168 . . . . . . . . . 2.19 T . B B N D L T N 0.313 T T T 0.046 0.315 0.129 0.085 T T T T T T 2.042 19.570 0.948 D N -0.184 1.923 0.005 2.377 0.996 0.706 0.710 0.653 0.655 . 5.520 5.520 3.079 1.312 0.756 0.948 0.540 0.771 896 RAVE_complex_protein_Rav1_C-terminal . . . DMXL1 183 0 134 37 0.216374269005848 TRUE NA +ENSG00000172548.14 . BCM GRCh38.p13 chr5 157460202 157460202 + C C T Missense_Mutation SNP ENST00000311946.7 exon1 c.C68T p.P23L exonic ENSG00000172548.14 . nonsynonymous SNV ENSG00000172548.14:ENST00000311946.7:exon1:c.C68T:p.P23L 5q33.3 C3N-00168 . . . . . . . . . 1.19 T T B B . N N D N 0.084 T T T 0.131 0.142 0.095 0.280 T T T T T T 1.182 13.490 0.913 N N -1.294 0.168 -1.316 0.199 1.000 0.455 0.609 0.607 0.555 . 3.620 -0.239 -1.019 0.033 -0.264 0.000 0.022 0.006 833 . . . . NIPAL4 25 0 87 18 0.171428571428571 TRUE TRUE +ENSG00000111863.12 . BCM GRCh38.p13 chr6 11768340 11768340 + A A T Missense_Mutation SNP ENST00000414691.7 exon2 c.T197A p.V66E exonic ENSG00000111863.12 . nonsynonymous SNV ENSG00000111863.12:ENST00000414691.7:exon2:c.T197A:p.V66E 6p24.1 C3N-00168 . . . . . . . . . 14.20 D D D D D D M T D 0.894 T T D 0.402 0.861 0.398 0.703 T T D D D T 3.944 26.600 0.991 D D 0.762 8.077 0.745 8.675 1.000 0.507 0.588 0.547 0.635 . 6.080 6.080 4.494 -0.050 0.691 1.000 0.975 0.999 928 . . . . ADTRP 176 0 146 44 0.231578947368421 TRUE TRUE +ENSG00000124574.15 . BCM GRCh38.p13 chr6 43435851 43435851 + G G A Missense_Mutation SNP ENST00000372530.9 exon5 c.G1709A p.R570Q exonic ENSG00000124574.15 . nonsynonymous SNV ENSG00000124574.15:ENST00000372530.9:exon5:c.G1709A:p.R570Q 6p21.1 C3N-00168 8.238e-06 0 0 0 0 0 0 6.057e-05 rs745844891 19.20 D D D D D D H D D 0.945 D D D 0.937 0.838 0.990 0.706 T D D D D D 4.508 32 1.000 D D 1.048 15.521 0.959 16.541 1.000 0.719 0.644 0.644 0.734 . 5.300 5.300 9.968 1.176 0.676 1.000 1.000 0.998 507 . . . ID=COSV55085418;OCCURENCE=1(central_nervous_system),1(prostate),1(lung) ABCC10 159 0 118 31 0.208053691275168 TRUE TRUE +ENSG00000112249.14 . BCM GRCh38.p13 chr6 100638639 100638639 + C C T Missense_Mutation SNP ENST00000369162.7 exon25 c.G4084A p.A1362T exonic ENSG00000112249.14 . nonsynonymous SNV ENSG00000112249.14:ENST00000369162.7:exon25:c.G4084A:p.A1362T 6q16.3 C3N-00168 . . . . . . . . . 13.20 D D D D D D M T D 0.943 T T D 0.421 0.816 0.495 0.879 T T T T D D 3.952 26.700 0.999 D D 0.823 9.241 0.802 10.196 1.000 0.706 0.710 0.644 0.714 . 5.390 5.390 7.886 1.008 0.599 1.000 1.000 0.997 928 AAA+_ATPase_domain;Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . ASCC3 98 0 107 26 0.195488721804511 TRUE TRUE +ENSG00000172673.10 . BCM GRCh38.p13 chr6 127829822 127829822 + C C A Missense_Mutation SNP ENST00000368250.5 exon4 c.G363T p.K121N exonic ENSG00000172673.10 . nonsynonymous SNV ENSG00000172673.10:ENST00000368250.5:exon4:c.G363T:p.K121N 6q22.33 C3N-00168 . . . . . . . . . 5.20 T T P B D N M T N 0.371 T T T 0.076 0.306 0.421 . T T T T D D 1.837 18.000 0.996 D N 0.243 3.498 0.355 4.053 0.001 0.487 0.574 0.574 0.564 . 6.140 5.260 0.042 1.026 0.599 0.971 1.000 0.999 716 CABIT_domain . . . THEMIS 245 0 165 12 0.0677966101694915 TRUE TRUE +ENSG00000010818.10 . BCM GRCh38.p13 chr6 142772714 142772714 + C C T Missense_Mutation SNP ENST00000367603.8 exon5 c.G2025A p.M675I exonic ENSG00000010818.10 . nonsynonymous SNV ENSG00000010818.10:ENST00000367603.8:exon5:c.G2025A:p.M675I 6q24.2 C3N-00168 . . . . . . . . . 3.20 T T B B D D L T N 0.143 T T T 0.054 0.358 0.043 0.213 T T T T T T 0.917 10.620 0.908 D N -0.367 1.456 -0.144 1.927 0.985 0.672 0.702 0.602 0.528 . 5.480 4.600 0.800 1.026 0.599 0.934 0.443 0.780 524 . . . . HIVEP2 218 0 202 54 0.2109375 TRUE TRUE +ENSG00000075624.16 . BCM GRCh38.p13 chr7 5528379 5528379 + G G T Missense_Mutation SNP ENST00000646664.1 exon4 c.C704A p.S235Y exonic ENSG00000075624.16 . nonsynonymous SNV ENSG00000075624.16:ENST00000646664.1:exon4:c.C704A:p.S235Y 7p22.1 C3N-00168 . . . . . . . . . 16.19 . D B P N D M D D 0.605 D D D 0.784 0.328 0.959 3.126 D D D D D D 4.284 29.400 0.981 D D 0.694 7.041 0.699 7.734 1.000 0.675 0.672 0.672 0.756 . 5.550 4.660 7.792 1.074 0.676 1.000 0.994 0.930 825 . . . . ACTB 329 1 291 100 0.255754475703325 TRUE TRUE +ENSG00000223614.5 . BCM GRCh38.p13 chr7 64220005 64220005 + T T G Missense_Mutation SNP ENST00000429565.4 exon4 c.T954G p.I318M exonic ENSG00000223614.5 . nonsynonymous SNV ENSG00000223614.5:ENST00000429565.4:exon4:c.T954G:p.I318M 7q11.21 C3N-00168 . . . . . . . . . 1.10 . D P P . . L . . 0.129 . . . . . 0.040 . T T T T . T 1.643 16.650 0.728 N . . . . . 0.000 0.061 0.063 0.063 0.057 0.082 0.810 0.810 -1.617 0.383 0.247 0.000 0.008 0.010 867 Zinc_finger_C2H2-type . . . ZNF735 228 0 215 25 0.104166666666667 NA TRUE +ENSG00000169876.14 . BCM GRCh38.p13 chr7 101043334 101043334 + C C A Missense_Mutation SNP ENST00000306151.9 exon3 c.C11918A p.T3973K exonic ENSG00000169876.14 . nonsynonymous SNV ENSG00000169876.14:ENST00000306151.9:exon3:c.C11918A:p.T3973K 7q22.1 C3N-00168 . . . . . . . . . 2.18 D . D P . N L T N 0.228 T T T 0.086 0.251 0.055 . T T T T T T 1.888 18.400 0.861 N N -0.643 0.911 -0.853 0.684 0.006 0.487 0.590 0.547 0.564 . 1.190 -0.275 1.428 0.430 0.402 0.002 0.032 0.026 835 . . . . MUC17 168 0 164 36 0.18 TRUE TRUE +ENSG00000188050.3 . BCM GRCh38.p13 chr7 122698062 122698062 + C C T Nonsense_Mutation SNP ENST00000340112.3 exon1 c.G857A p.W286X exonic ENSG00000188050.3 . stopgain ENSG00000188050.3:ENST00000340112.3:exon1:c.G857A:p.W286X 7q31.32 C3N-00168 . . . . . . . . . 4.6 . . . . U D . . . 0.156 . . . . . . . . . D D . . 8.078 41 0.996 D N 0.863 10.145 0.751 8.829 1.000 0.554 0.574 0.547 0.621 . 5.530 5.530 5.011 1.026 0.549 1.000 1.000 0.997 705 Zinc_finger,_RING-type . . . RNF133 128 0 107 32 0.23021582733813 TRUE NA +ENSG00000120915.14 . BCM GRCh38.p13 chr8 27516392 27516392 + C C T Missense_Mutation SNP ENST00000521400.6 exon8 c.C904T p.P302S exonic ENSG00000120915.14 . nonsynonymous SNV ENSG00000120915.14:ENST00000521400.6:exon8:c.C904T:p.P302S 8p21.1 C3N-00168 . . . . . . . . rs867470047 13.20 D D D D D D H T D 0.561 T T D 0.359 0.724 0.711 0.459 T T T T D D 3.089 23.600 0.999 D D 0.644 6.406 0.519 5.337 1.000 0.644 0.659 0.688 0.621 . 5.670 5.670 4.160 1.026 0.599 0.976 0.141 0.415 757 Alpha/beta_hydrolase_fold-1 . . . EPHX2 131 0 122 27 0.181208053691275 TRUE NA +ENSG00000168172.9 . BCM GRCh38.p13 chr8 42966551 42966551 + T T G Missense_Mutation SNP ENST00000307602.9 exon10 c.T858G p.N286K exonic ENSG00000168172.9 . nonsynonymous SNV ENSG00000168172.9:ENST00000307602.9:exon10:c.T858G:p.N286K 8p11.21 C3N-00168 . . . . . . . . . 8.20 D T P P D D M T D 0.609 T T T 0.212 0.557 0.576 0.915 D T T T D D 1.845 18.070 0.996 N N -0.498 1.180 -0.649 0.974 0.999 0.707 0.725 0.659 0.714 . 5.640 -5.230 -0.731 -0.561 -0.123 0.026 0.990 0.978 334 . . . . HOOK3 95 0 114 24 0.173913043478261 TRUE TRUE +ENSG00000147596.4 . BCM GRCh38.p13 chr8 70069257 70069257 + G G C Missense_Mutation SNP ENST00000276594.3 exon2 c.C604G p.L202V exonic ENSG00000147596.4 . nonsynonymous SNV ENSG00000147596.4:ENST00000276594.3:exon2:c.C604G:p.L202V 8q13.3 C3N-00168 . . . . . . . . rs889482883 10.20 D D D D D D M T N 0.550 T T D 0.156 . 0.257 1.205 T T T T D T 2.383 22.000 0.993 D N 0.203 3.315 0.078 2.646 1.000 0.628 0.563 0.672 0.639 . 5.500 2.300 2.745 0.224 0.676 1.000 0.275 0.390 937 . . . . PRDM14 36 0 39 6 0.133333333333333 TRUE NA +ENSG00000155897.10 . BCM GRCh38.p13 chr8 130943394 130943394 + C C G Missense_Mutation SNP ENST00000286355.10 exon4 c.G1310C p.R437T exonic ENSG00000155897.10 . nonsynonymous SNV ENSG00000155897.10:ENST00000286355.10:exon4:c.G1310C:p.R437T 8q24.22 C3N-00168 . . . . . . . . . 18.20 D D D D D D L T D 0.865 D D D 0.637 0.639 0.958 1.110 D D D D D D 3.269 24.000 0.987 D D 0.603 5.952 0.659 7.055 1.000 0.638 0.574 0.653 0.632 . 5.650 5.650 4.864 1.026 0.599 1.000 1.000 1.000 765 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . ADCY8 119 0 128 8 0.0588235294117647 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 17114045 17114045 + A A G Missense_Mutation SNP ENST00000377833.10 exon8 c.T865C p.C289R exonic ENSG00000107611.16 . nonsynonymous SNV ENSG00000107611.16:ENST00000377833.10:exon8:c.T865C:p.C289R 10p13 C3N-00168 . . . . . . . . . 18.20 D D D D D D H D D 0.974 D D D 0.984 0.995 0.989 0.589 T D D D D T 3.793 25.800 0.991 D D 0.944 12.233 0.780 9.557 1.000 0.616 0.574 0.574 0.677 . 5.540 5.540 9.060 1.207 0.756 1.000 0.977 0.449 744 EGF-like_domain;EGF-like_calcium-binding_domain . . . CUBN 421 0 379 97 0.203781512605042 TRUE TRUE +ENSG00000213341.11 . BCM GRCh38.p13 chr10 100209722 100209722 + A A G Missense_Mutation SNP ENST00000370397.8 exon10 c.T1001C p.L334P exonic ENSG00000213341.11 . nonsynonymous SNV ENSG00000213341.11:ENST00000370397.8:exon10:c.T1001C:p.L334P 10q24.31 C3N-00168 . . . . . . . . . 15.20 D D D P D D M T D 0.515 T T D 0.534 0.393 0.806 1.767 T D D D D D 4.189 28.600 0.999 D D 0.849 9.805 0.849 11.728 1.000 0.732 0.744 0.659 0.728 . 5.930 5.930 9.325 1.312 0.756 1.000 1.000 0.996 841 . . . . CHUK 163 0 82 21 0.203883495145631 TRUE TRUE +ENSG00000099834.19 . BCM GRCh38.p13 chr11 624640 624640 + C C T Missense_Mutation SNP ENST00000397542.7 exon2 c.G178A p.V60M exonic ENSG00000099834.19 . nonsynonymous SNV ENSG00000099834.19:ENST00000397542.7:exon2:c.G178A:p.V60M 11p15.5 C3N-00168 . . . . . . . . rs748626313 7.19 D D D D . N M T D 0.470 T T D 0.287 0.734 0.271 0.297 T T T T T T 2.505 22.400 0.997 N N 0.137 3.037 -0.063 2.155 1.000 0.581 0.514 0.576 0.605 . 2.710 2.710 0.438 0.003 -0.305 0.000 0.010 0.008 929 Cadherin-like . . . CDHR5 78 0 62 10 0.138888888888889 TRUE NA +ENSG00000187918.5 . BCM GRCh38.p13 chr11 5454224 5454224 + C C A Missense_Mutation SNP ENST00000641930.1 exon2 c.C736A p.L246M exonic ENSG00000187918.5 . nonsynonymous SNV ENSG00000187918.5:ENST00000641930.1:exon2:c.C736A:p.L246M 11p15.4 C3N-00168 . . . . . . . . . 5.20 D D D D N N L T N 0.162 T T T 0.086 0.459 0.141 0.047 T T T T D T 1.883 18.360 0.984 N N -0.686 0.837 -0.910 0.607 0.976 0.487 0.574 0.574 0.564 . 5.580 -4.100 -0.648 -0.227 0.596 0.000 0.631 0.994 696 GPCR,_rhodopsin-like,_7TM . . . OR51I2 155 0 142 25 0.149700598802395 TRUE TRUE +ENSG00000110811.20 . BCM GRCh38.p13 chr12 6837978 6837978 + A A G Missense_Mutation SNP ENST00000290510.10 exon13 c.A1850G p.D617G exonic ENSG00000110811.20 . nonsynonymous SNV ENSG00000110811.20:ENST00000290510.10:exon13:c.A1850G:p.D617G 12p13.31 C3N-00168 . . . . . . . . . 8.15 . T D P D D . . . 0.566 T T T 0.449 0.529 0.248 . . T D D D T 3.513 24.700 0.992 D D 0.449 4.660 0.458 4.802 1.000 0.707 0.547 0.702 0.714 . 4.690 4.690 6.685 1.312 0.756 1.000 1.000 0.997 521 Prolyl_4-hydroxylase,_alpha_subunit;Oxoglutarate/iron-dependent_dioxygenase . . . P3H3 181 0 125 38 0.233128834355828 TRUE TRUE +ENSG00000123104.12 . BCM GRCh38.p13 chr12 26578755 26578755 + T T G Missense_Mutation SNP ENST00000381340.8 exon34 c.A4588C p.K1530Q exonic ENSG00000123104.12 . nonsynonymous SNV ENSG00000123104.12:ENST00000381340.8:exon34:c.A4588C:p.K1530Q 12p11.23 C3N-00168 . . . . . . . . . 12.20 D D P P D D M T D 0.675 T T D 0.320 0.452 0.609 0.334 T D T T D D 3.738 25.600 0.992 D D 0.427 4.515 0.418 4.491 1.000 0.732 0.744 0.609 0.714 . 5.120 5.120 7.660 1.120 0.587 1.000 0.987 0.755 865 . . . . ITPR2 144 0 127 32 0.20125786163522 TRUE TRUE +ENSG00000187950.8 . BCM GRCh38.p13 chr12 29487744 29487744 + A A T Missense_Mutation SNP ENST00000318184.9 exon7 c.T841A p.F281I exonic ENSG00000187950.8 . nonsynonymous SNV ENSG00000187950.8:ENST00000318184.9:exon7:c.T841A:p.F281I 12p11.22 C3N-00168 . . . . . . . . . 9.14 D D . . . N . D D 0.752 D D T 0.496 0.882 0.920 0.277 T . D T D . 3.254 24.000 0.992 D N 0.388 4.271 0.251 3.442 0.022 0.554 0.574 0.574 0.621 . 2.570 2.570 2.810 0.986 0.665 0.993 0.947 0.970 770 . . . . OVCH1 132 0 110 41 0.271523178807947 TRUE TRUE +ENSG00000100906.11 . BCM GRCh38.p13 chr14 35402446 35402446 + T T C Missense_Mutation SNP ENST00000216797.10 exon5 c.A854G p.D285G exonic ENSG00000100906.11 . nonsynonymous SNV ENSG00000100906.11:ENST00000216797.10:exon5:c.A854G:p.D285G 14q13.2 C3N-00168 . . . . . . . . . 7.19 D T P P . D L T D 0.591 T T T 0.085 0.316 0.459 1.073 T T T T D D 4.019 27.100 0.996 D D 0.419 4.462 0.503 5.189 1.000 0.722 0.672 0.699 0.658 . 5.900 5.900 4.798 1.138 0.665 1.000 1.000 0.997 496 . . . . NFKBIA 273 0 251 33 0.116197183098592 TRUE TRUE +ENSG00000184916.9 . BCM GRCh38.p13 chr14 105143608 105143608 + T T G Missense_Mutation SNP ENST00000331782.8 exon25 c.A3115C p.S1039R exonic ENSG00000184916.9 . nonsynonymous SNV ENSG00000184916.9:ENST00000331782.8:exon25:c.A3115C:p.S1039R 14q32.33 C3N-00168 . . . . . . . . . 4.20 T T B B N N L D N 0.435 T T D 0.253 0.286 0.657 0.722 T T T T T D 1.865 18.220 0.427 D N -0.512 1.153 -0.349 1.467 0.996 0.707 0.588 0.723 0.714 . 4.690 4.690 1.092 1.049 0.609 1.000 0.999 0.920 982 . . . . JAG2 185 0 161 59 0.268181818181818 TRUE TRUE +ENSG00000158486.13 . BCM GRCh38.p13 chr16 21000412 21000412 + G G T Missense_Mutation SNP ENST00000261383.3 exon43 c.C6233A p.T2078N exonic ENSG00000158486.13 . nonsynonymous SNV ENSG00000158486.13:ENST00000261383.3:exon43:c.C6233A:p.T2078N 16p12.3 C3N-00168 . . . . . . . . . 13.19 D . D D D D H T D 0.859 D T D 0.633 0.723 0.392 0.523 T T T T D D 3.803 25.800 0.994 D D 1.107 17.821 1.017 19.936 1.000 0.497 0.590 0.547 0.530 . 5.520 5.520 9.414 1.176 0.676 1.000 1.000 0.999 347 AAA+_ATPase_domain . . . DNAH3 114 0 139 12 0.0794701986754967 TRUE TRUE +ENSG00000169682.18 . BCM GRCh38.p13 chr16 28981488 28981488 + G G A Missense_Mutation SNP ENST00000311008.16 exon6 c.G682A p.V228M exonic ENSG00000169682.18 . nonsynonymous SNV ENSG00000169682.18:ENST00000311008.16:exon6:c.G682A:p.V228M 16p11.2 C3N-00168 . . . . . . . . . 4.20 T T B B N D L T N 0.225 T T T 0.082 0.623 0.306 0.783 T T T T D D 2.533 22.500 0.985 D N -0.088 2.212 0.059 2.573 0.135 0.713 0.636 0.780 0.714 . 4.910 3.880 0.963 1.176 0.676 0.813 1.000 0.998 479 Major_facilitator_superfamily_domain . . . SPNS1 181 0 189 28 0.129032258064516 TRUE TRUE +ENSG00000121281.13 . BCM GRCh38.p13 chr16 50293397 50293397 + G G T Missense_Mutation SNP ENST00000673801.1 exon6 c.G731T p.G244V exonic ENSG00000121281.13 . nonsynonymous SNV ENSG00000121281.13:ENST00000673801.1:exon6:c.G731T:p.G244V 16q12.1 C3N-00168 . . . . . . . . rs377714005 6.20 D T B B U D L T N 0.431 T T D 0.284 0.431 0.918 1.445 T T T T D D 2.546 22.500 0.993 D N 0.017 2.574 0.201 3.186 1.000 0.672 0.702 0.645 0.655 . 5.180 5.180 3.541 1.176 0.676 1.000 1.000 0.999 767 Adenylate_cyclase,_N-terminal;Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . ADCY7 126 0 156 9 0.0545454545454545 TRUE NA +ENSG00000214941.8 . BCM GRCh38.p13 chr17 15987272 15987279 + AACACGCC AACACGCC - Frame_Shift_Del DEL ENST00000399277.6 exon3 c.188_195del p.R63Ifs*9 exonic ENSG00000214941.8 . frameshift deletion ENSG00000214941.8:ENST00000399277.6:exon3:c.188_195del:p.R63Ifs*9 17p12 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSWIM7 155 0 127 45 0.261627906976744 TRUE TRUE +ENSG00000205045.10 . BCM GRCh38.p13 chr17 35479119 35479119 + G G A Missense_Mutation SNP ENST00000628453.2 exon2 c.C1091T p.P364L exonic ENSG00000205045.10 . nonsynonymous SNV ENSG00000205045.10:ENST00000628453.2:exon2:c.C1091T:p.P364L 17q12 C3N-00168 . . . . . . . . . 7.19 D D P B . N M T D 0.068 T T D 0.108 0.475 0.157 0.078 T D T T D T 1.471 15.550 0.811 N N -1.075 0.330 -1.314 0.200 0.007 0.615 0.634 0.563 0.530 . 2.250 -1.280 0.527 -1.082 -0.344 0.003 0.000 0.002 240 . . . . SLFN12L 56 0 36 24 0.4 TRUE TRUE +ENSG00000108759.3 . BCM GRCh38.p13 chr17 41464290 41464290 + T T C Missense_Mutation SNP ENST00000225899.3 exon4 c.A862G p.N288D exonic ENSG00000108759.3 . nonsynonymous SNV ENSG00000108759.3:ENST00000225899.3:exon4:c.A862G:p.N288D 17q21.2 C3N-00168 . . . . . . . . . 3.20 T T B B D N M T N 0.255 T T D 0.128 0.403 0.572 0.288 T T T T T T 2.185 20.800 0.987 N N -0.404 1.375 -0.331 1.502 0.989 0.487 0.563 0.574 0.542 . 5.220 4.150 1.864 1.138 0.665 0.999 0.854 0.944 462 Intermediate_filament,_rod_domain . . . KRT32 37 0 27 6 0.181818181818182 TRUE NA +ENSG00000215421.9 . BCM GRCh38.p13 chr18 74634311 74634311 + G G A Missense_Mutation SNP ENST00000299687.9 exon1 c.G3292A p.E1098K exonic ENSG00000215421.9 . nonsynonymous SNV ENSG00000215421.9:ENST00000299687.9:exon1:c.G3292A:p.E1098K 18q22.3 C3N-00168 . . . . . . . . . 3.20 D T B B D N M T N 0.344 T T T 0.026 0.295 0.123 0.126 T T T T T T 1.735 17.260 0.994 N N -0.567 1.049 -0.494 1.212 1.000 0.615 0.654 0.659 0.636 . 5.950 3.190 0.671 1.176 0.676 0.506 0.065 0.583 730 . . . . ZNF407 164 0 142 26 0.154761904761905 TRUE TRUE +ENSG00000099308.10 . BCM GRCh38.p13 chr19 18123952 18123952 + T T A Missense_Mutation SNP ENST00000262811.10 exon8 c.T560A p.M187K exonic ENSG00000099308.10 . nonsynonymous SNV ENSG00000099308.10:ENST00000262811.10:exon8:c.T560A:p.M187K 19p13.11 C3N-00168 . . . . . . . . . 16.20 D D D D D D M T D 0.956 T T D 0.744 0.769 0.847 2.548 D T D D D D 4.252 29.100 0.990 D D 0.814 9.054 0.714 8.024 1.000 0.646 0.577 0.645 0.568 . 4.450 4.450 7.865 0.976 0.519 1.000 0.999 0.989 958 Microtubule-associated_serine/threonine-protein_kinase,_domain . . . MAST3 199 0 122 48 0.282352941176471 TRUE TRUE +ENSG00000167232.14 . BCM GRCh38.p13 chr19 23360431 23360431 + C C A Nonsense_Mutation SNP ENST00000300619.12 exon4 c.G2548T p.G850X exonic ENSG00000167232.14 . stopgain ENSG00000167232.14:ENST00000300619.12:exon4:c.G2548T:p.G850X 19p12 C3N-00168 . . . . . . . . . 3.5 . . . . . D . . . 0.042 . . . . . . . . . D D . . 4.678 32 0.931 N N -0.269 1.691 -0.711 0.885 0.000 0.706 0.710 0.710 0.684 . 1.340 0.134 1.296 -1.450 -0.748 0.001 0.000 0.001 988 Zinc_finger_C2H2-type . . . ZNF91 157 0 92 27 0.226890756302521 NA TRUE +ENSG00000196132.14 . BCM GRCh38.p13 chr20 64207594 64207594 + G G A Missense_Mutation SNP ENST00000328439.6 exon7 c.G398A p.G133E exonic ENSG00000196132.14 . nonsynonymous SNV ENSG00000196132.14:ENST00000328439.6:exon7:c.G398A:p.G133E 20q13.33 C3N-00168 2.559e-05 0 0 0 0 4.61e-05 0 0 rs781103474 4.20 D T B B D D L T N 0.101 T T T 0.057 0.155 0.043 0.244 T T T T T T 2.668 22.800 0.924 D N -0.130 2.080 0.010 2.395 0.823 0.581 0.547 0.576 0.563 . 4.290 4.290 1.619 1.176 0.610 1.000 0.992 0.996 . . . . . MYT1 69 0 48 20 0.294117647058824 TRUE NA +ENSG00000184702.20 . BCM GRCh38.p13 chr22 19720337 19720337 + A A C Missense_Mutation SNP ENST00000455843.5 exon5 c.A407C p.D136A exonic ENSG00000184702.20;ENSG00000284874.1 . nonsynonymous SNV ENSG00000284874.1:ENST00000455843.5:exon5:c.A407C:p.D136A,ENSG00000184702.20:ENST00000455784.7:exon6:c.A380C:p.D127A 22q11.21 C3N-00168 . . . . . . . . . 8.19 T T B B D D L T D 0.762 T T D 0.257 0.459 0.496 2.443 . T T T D D 3.911 26.400 0.863 D D -0.309 1.593 -0.377 1.414 1.000 0.707 0.627 0.494 0.714 . 4.010 1.780 9.112 1.185 0.731 1.000 0.997 0.993 958 Septin-type_guanine_nucleotide-binding_(G)_domain . . . SEPTIN5 116 0 106 37 0.258741258741259 TRUE TRUE +ENSG00000138684.9 . BCM GRCh38.p13 chr4 122615681 122615681 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000138684.9 ENST00000648588.1:exon3:c.360+1G>C . . 4q27 C3N-00168 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.609 32 0.993 D . 0.919 11.545 0.724 8.226 1.000 0.054 0.060 0.060 0.059 0.961 4.980 4.980 3.443 1.026 0.599 0.920 0.976 0.631 799 . . . . IL21 61 0 38 6 0.136363636363636 TRUE TRUE +ENSG00000178028.14 . BCM GRCh38.p13 chr1 44218623 44218623 + C C T Silent SNP ENST00000372289.7 exon5 c.C588T p.Y196Y exonic ENSG00000178028.14 . synonymous SNV ENSG00000178028.14:ENST00000372289.7:exon5:c.C588T:p.Y196Y 1p34.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMAP1 76 0 90 24 0.210526315789474 TRUE TRUE +ENSG00000122224.18 . BCM GRCh38.p13 chr1 160816628 160816628 + C C A Silent SNP ENST00000263285.11 exon5 c.C1107A p.L369L exonic ENSG00000122224.18 . synonymous SNV ENSG00000122224.18:ENST00000263285.11:exon5:c.C1107A:p.L369L 1q23.3 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LY9 125 0 142 14 0.0897435897435897 TRUE TRUE +ENSG00000145192.13 . BCM GRCh38.p13 chr3 186617311 186617311 + C C T Silent SNP ENST00000411641.7 exon4 c.C534T p.S178S exonic ENSG00000145192.13 . synonymous SNV ENSG00000145192.13:ENST00000411641.7:exon4:c.C534T:p.S178S 3q27.3 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHSG 318 0 283 66 0.189111747851003 TRUE TRUE +ENSG00000154556.18 . BCM GRCh38.p13 chr4 185626908 185626908 + C C A Silent SNP ENST00000284776.11 exon12 c.G846T p.V282V exonic ENSG00000154556.18 . synonymous SNV ENSG00000154556.18:ENST00000284776.11:exon12:c.G846T:p.V282V 4q35.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORBS2 228 0 162 69 0.298701298701299 TRUE TRUE +ENSG00000156639.12 . BCM GRCh38.p13 chr6 38116651 38116651 + T T C Silent SNP ENST00000287218.9 exon5 c.T441C p.S147S exonic ENSG00000156639.12 . synonymous SNV ENSG00000156639.12:ENST00000287218.9:exon5:c.T441C:p.S147S 6p21.2 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFAND3 108 0 82 18 0.18 TRUE TRUE +ENSG00000074771.4 . BCM GRCh38.p13 chr6 155422808 155422808 + G G A Silent SNP ENST00000159060.3 exon10 c.C1194T p.H398H exonic ENSG00000074771.4 . synonymous SNV ENSG00000074771.4:ENST00000159060.3:exon10:c.C1194T:p.H398H 6q25.3 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50154316;OCCURENCE=1(liver) NOX3 128 0 152 23 0.131428571428571 TRUE TRUE +ENSG00000160963.14 . BCM GRCh38.p13 chr7 101447720 101447720 + C C T Silent SNP ENST00000313669.12 exon3 c.C318T p.S106S exonic ENSG00000160963.14 . synonymous SNV ENSG00000160963.14:ENST00000313669.12:exon3:c.C318T:p.S106S 7q22.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL26A1 182 0 179 25 0.122549019607843 TRUE TRUE +ENSG00000184672.12 . BCM GRCh38.p13 chr8 84529465 84529465 + A A C Silent SNP ENST00000521268.6 exon2 c.A144C p.I48I exonic ENSG00000184672.12 . synonymous SNV ENSG00000184672.12:ENST00000521268.6:exon2:c.A144C:p.I48I 8q21.2 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RALYL 279 0 269 45 0.143312101910828 TRUE TRUE +ENSG00000166833.21 . BCM GRCh38.p13 chr11 19948796 19948796 + G G A Silent SNP ENST00000396087.7 exon11 c.G2430A p.Q810Q exonic ENSG00000166833.21 . synonymous SNV ENSG00000166833.21:ENST00000396087.7:exon11:c.G2430A:p.Q810Q 11p15.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62337380;OCCURENCE=1(endometrium) NAV2 145 0 129 34 0.208588957055215 TRUE TRUE +ENSG00000130158.14 . BCM GRCh38.p13 chr19 11252839 11252839 + C C T Silent SNP ENST00000294618.12 exon3 c.G252A p.E84E exonic ENSG00000130158.14 . synonymous SNV ENSG00000130158.14:ENST00000294618.12:exon3:c.G252A:p.E84E 19p13.2 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK6 69 0 71 24 0.252631578947368 TRUE TRUE +ENSG00000196090.12 . BCM GRCh38.p13 chr20 42352226 42352226 + C C A Silent SNP ENST00000373187.5 exon10 c.G1620T p.G540G exonic ENSG00000196090.12 . synonymous SNV ENSG00000196090.12:ENST00000373187.5:exon10:c.G1620T:p.G540G 20q12 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRT 261 0 256 53 0.171521035598705 TRUE TRUE +ENSG00000124140.14 . BCM GRCh38.p13 chr20 46036752 46036752 + G G A Silent SNP ENST00000454036.6 exon5 c.G507A p.T169T exonic ENSG00000124140.14 . synonymous SNV ENSG00000124140.14:ENST00000454036.6:exon5:c.G507A:p.T169T 20q13.12 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC12A5 133 0 126 34 0.2125 TRUE NA +ENSG00000166840.13 . BCM GRCh38.p13 chr11 58947051 58947051 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000166840.13 ENST00000317391.8:c.-37C>T . . 11q12.1 C3N-00168 . . . . . . . . . 0.18 T T B B U N . T N 0.226 T T T 0.079 0.835 0.107 0.061 T . T T T T 0.662 8.103 0.646 N N -1.602 0.055 -1.723 0.047 0.003 0.638 0.574 0.653 0.564 . 2.760 -5.520 -1.016 -0.205 0.306 0.000 0.287 0.397 549 . . . . GLYATL1 225 0 187 40 0.176211453744493 TRUE TRUE +ENSG00000259112.2 . BCM GRCh38.p13 chr11 78038710 78038710 + G G A Intron SNP NA NA NA NA intronic ENSG00000259112.2 . . . 11q14.1 C3N-00168 . . . . . . . . . 0.5 . . . . . N . . . 0.128 . . . . . 0.467 . . . T T . T 1.054 12.280 0.709 N . . . . . 1.000 0.078 0.097 0.078 0.063 0.113 2.840 0.367 -0.028 0.992 0.676 0.000 0.004 0.037 544 . . . . NDUFC2-KCTD14 209 0 219 47 0.176691729323308 TRUE NA +ENSG00000102452.17 . BCM GRCh38.p13 chr13 101143064 101143064 + A A - Intron SNP NA NA NA NA intronic ENSG00000102452.17 . . . 13q33.1 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NALCN 202 0 177 33 0.157142857142857 TRUE NA +ENSG00000081138.14 . BCM GRCh38.p13 chr18 65862934 65862934 + G G C Intron SNP NA NA NA NA intronic ENSG00000081138.14 . . . 18q22.1 C3N-00168 . . . . . . . . . 1.17 D T B B . N . T N 0.245 T T T 0.066 0.463 0.162 . . T T T T T 0.450 5.972 0.898 N N -1.294 0.168 -1.423 0.140 0.011 0.554 0.588 0.574 0.564 . 3.780 -5.050 0.919 -0.134 -0.242 0.001 0.000 0.003 994 . . . . CDH7 87 0 101 6 0.0560747663551402 TRUE TRUE +ENSG00000283685.1 . BCM GRCh38.p13 chr19 53751275 53751275 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000283685.1 . . . 19q13.42 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR522 126 0 135 8 0.0559440559440559 TRUE NA +ENSG00000085719.13 . BCM GRCh38.p13 chr8 86529023 86529024 + GT GT AC Unknown MNP ENST00000517490.6 exon4 c.211_212delinsAC p.V71T exonic ENSG00000085719.13 . nonframeshift substitution ENSG00000085719.13:ENST00000517490.6:exon4:c.211_212delinsAC:p.V71T 8q21.3 C3N-00168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPNE3 130 0 60 9 0.130434782608696 TRUE TRUE +ENSG00000116151.14 . BCM GRCh38.p13 chr1 2324099 2324099 + A A - Frame_Shift_Del NA ENST00000378531.8 exon13 c.1295delT p.L432Qfs*7 exonic ENSG00000116151.14 . frameshift deletion ENSG00000116151.14:ENST00000378531.8:exon13:c.1295delT:p.L432Qfs*7 1p36.32 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MORN1 151 0 140 13 0.0849673202614379 TRUE TRUE +ENSG00000130764.10 . BCM GRCh38.p13 chr1 3784050 3784050 + T T G Missense_Mutation SNP ENST00000378251.3 exon4 c.A1256C p.E419A exonic ENSG00000130764.10 . nonsynonymous SNV ENSG00000130764.10:ENST00000378251.3:exon4:c.A1256C:p.E419A 1p36.32 C3N-00177 . . . . . . . . . 15.20 D D D D D D M T D 0.754 T T D 0.533 0.408 0.611 1.019 T T D D D D 4.279 29.400 0.997 D D 0.753 7.924 0.702 7.794 1.000 0.707 0.702 0.702 0.714 . 4.940 4.940 7.311 1.137 0.609 1.000 0.995 0.979 923 B3/B4_tRNA-binding_domain . . . LRRC47 172 0 133 24 0.152866242038217 TRUE TRUE +ENSG00000130939.20 . BCM GRCh38.p13 chr1 10130556 10130556 + G G T Missense_Mutation SNP ENST00000343090.11 exon13 c.G1752T p.E584D exonic ENSG00000130939.20 . nonsynonymous SNV ENSG00000130939.20:ENST00000343090.11:exon13:c.G1752T:p.E584D 1p36.22 C3N-00177 . . . . . . . . . 13.20 D D D D D D M T D 0.777 T T T 0.223 0.231 0.636 1.527 T D D T D D 3.367 24.300 0.998 D N 0.506 5.082 0.479 4.975 0.026 0.732 0.654 0.744 0.714 . 5.930 4.070 1.643 1.176 0.674 1.000 1.000 1.000 523 . . . . UBE4B 167 0 113 21 0.156716417910448 TRUE TRUE +ENSG00000158747.15 . BCM GRCh38.p13 chr1 19655082 19655082 + G G A Missense_Mutation SNP ENST00000375136.8 exon2 c.G52A p.A18T exonic ENSG00000158747.15 . nonsynonymous SNV ENSG00000158747.15:ENST00000375136.8:exon2:c.G52A:p.A18T 1p36.13 C3N-00177 . . . . . . . . . 10.20 D D D P D D M T N 0.643 T T T 0.238 0.420 0.664 1.295 T T T T D D 3.982 26.900 0.990 D D 0.208 3.337 0.147 2.935 1.000 0.732 0.670 0.710 0.728 . 4.140 3.200 8.743 1.176 0.674 1.000 0.989 0.998 652 . . . . NBL1 105 0 79 13 0.141304347826087 TRUE TRUE +ENSG00000162631.18 . BCM GRCh38.p13 chr1 107324634 107324634 + C C T Missense_Mutation SNP ENST00000370068.5 exon3 c.C599T p.T200M exonic ENSG00000162631.18 . nonsynonymous SNV ENSG00000162631.18:ENST00000370068.5:exon3:c.C599T:p.T200M 1p13.3 C3N-00177 8.281e-06 0 0 0 0 1.504e-05 0 0 rs773062054 15.20 D D D D D D L T D 0.616 T T D 0.574 0.637 0.877 1.671 T D D D D D 3.703 25.400 0.998 D D 0.661 6.606 0.678 7.363 1.000 0.554 0.588 0.602 0.621 . 6.050 5.140 7.905 1.026 0.599 1.000 0.995 0.995 908 Laminin,_N-terminal . . ID=COSV53964857;OCCURENCE=1(liver),2(large_intestine) NTNG1 182 0 141 22 0.134969325153374 TRUE TRUE +ENSG00000187180.3 . BCM GRCh38.p13 chr1 152676268 152676268 + C C T Missense_Mutation SNP ENST00000368783.1 exon2 c.C253T p.R85W exonic ENSG00000187180.3 . nonsynonymous SNV ENSG00000187180.3:ENST00000368783.1:exon2:c.C253T:p.R85W 1q21.3 C3N-00177 2.524e-05 0 8.655e-05 0 0 3.06e-05 0 0 rs777666120 3.18 D T D P . N M T N 0.234 T T T 0.160 . 0.233 0.003 . T T T T T 1.199 13.630 0.889 N N -0.699 0.814 -1.011 0.475 0.048 0.487 0.563 0.574 0.564 . 3.150 -6.290 -1.421 0.936 0.434 0.000 0.001 0.360 778 . . . ID=COSV64228433;OCCURENCE=1(large_intestine),1(stomach),1(kidney),1(prostate) LCE2C 158 0 145 22 0.131736526946108 NA TRUE +ENSG00000198400.11 . BCM GRCh38.p13 chr1 156864760 156864760 + C C T Missense_Mutation SNP ENST00000524377.5 exon3 c.C320T p.A107V exonic ENSG00000198400.11 . nonsynonymous SNV ENSG00000198400.11:ENST00000524377.5:exon3:c.C320T:p.A107V 1q23.1 C3N-00177 9.231e-05 0 0 0.0005 0 3.036e-05 0 0.0003 rs540521894 8.20 D D D D N D M T N 0.590 T T D 0.157 . 0.849 0.877 T T T T T T 3.578 25.000 0.999 D N 0.480 4.887 0.494 5.104 1.000 0.598 0.547 0.596 0.550 . 5.140 5.140 2.681 1.026 0.549 0.983 0.967 0.915 623 . . . ID=COSV62324041;OCCURENCE=3(large_intestine),1(ovary),1(soft_tissue),1(prostate),1(lung) NTRK1 245 0 208 35 0.1440329218107 TRUE TRUE +ENSG00000176393.11 . BCM GRCh38.p13 chr1 202001765 202001765 + C C A Missense_Mutation SNP ENST00000295640.9 exon8 c.C1424A p.P475Q exonic ENSG00000176393.11 . nonsynonymous SNV ENSG00000176393.11:ENST00000295640.9:exon8:c.C1424A:p.P475Q 1q32.1 C3N-00177 . . . . . . . . . 6.20 D D B B D D L T N 0.643 T T T 0.089 0.461 0.386 0.207 T T T T D T 2.699 22.800 0.987 D N -0.358 1.477 -0.260 1.650 0.997 0.707 0.725 0.702 0.714 . 5.520 4.620 4.044 1.016 0.587 1.000 0.870 0.952 804 . . . . RNPEP 69 1 66 8 0.108108108108108 TRUE TRUE +ENSG00000116903.7 . BCM GRCh38.p13 chr1 231336557 231336557 + C C T Missense_Mutation SNP ENST00000366645.1 exon1 c.G1189A p.E397K exonic ENSG00000116903.7 . nonsynonymous SNV ENSG00000116903.7:ENST00000366645.1:exon1:c.G1189A:p.E397K 1q42.2 C3N-00177 . . . . . . . . . 16.17 . D D D D D M . . 0.868 D D D 0.641 0.450 0.936 . D T D D D D 4.343 29.900 0.999 D D 0.701 7.136 0.674 7.293 1.000 0.628 0.672 0.695 0.628 . 5.860 5.860 7.902 1.026 0.599 1.000 0.678 0.857 673 Exocyst_component_Exo84,_C-terminal . . ID=COSV50477683;OCCURENCE=2(large_intestine),1(endometrium) EXOC8 144 0 127 24 0.158940397350993 TRUE TRUE +ENSG00000177174.1 . BCM GRCh38.p13 chr1 248348950 248348950 + T T C Missense_Mutation SNP ENST00000317861.1 exon1 c.T176C p.F59S exonic ENSG00000177174.1 . nonsynonymous SNV ENSG00000177174.1:ENST00000317861.1:exon1:c.T176C:p.F59S 1q44 C3N-00177 . . . . . . . . . 8.20 D D D D U N M T D 0.371 T T T 0.219 0.862 0.161 0.874 T T T T D T 2.528 22.500 0.999 D N 0.628 6.223 0.512 5.268 0.890 0.487 0.574 0.574 0.564 . 4.050 4.050 2.146 0.516 0.384 0.045 0.138 0.062 982 GPCR,_rhodopsin-like,_7TM . . . OR14C36 109 0 62 14 0.184210526315789 TRUE TRUE +ENSG00000075340.23 . BCM GRCh38.p13 chr2 70676870 70676870 + G G C Missense_Mutation SNP ENST00000264436.9 exon13 c.C1519G p.R507G exonic ENSG00000075340.23 . nonsynonymous SNV ENSG00000075340.23:ENST00000264436.9:exon13:c.C1519G:p.R507G 2p13.3 C3N-00177 . . . . . . . . . 15.20 D D D D D D M T D 0.906 T T T 0.436 0.358 0.553 1.455 T D D D D D 3.910 26.400 0.998 D D 0.896 10.938 0.858 12.085 1.000 0.707 0.590 0.725 0.586 . 5.090 5.090 7.119 1.176 0.676 1.000 1.000 0.999 749 . . . . ADD2 70 0 44 7 0.137254901960784 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146520 10146520 + T T - Frame_Shift_Del NA ENST00000256474.3 exon2 c.347delT p.W117Gfs*42 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon2:c.347delT:p.W117Gfs*42 3p25.3 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 271 0 210 39 0.156626506024096 TRUE TRUE +ENSG00000174953.14 . BCM GRCh38.p13 chr3 154284869 154284869 + G G A Missense_Mutation SNP ENST00000496811.6 exon18 c.C2150T p.P717L exonic ENSG00000174953.14 . nonsynonymous SNV ENSG00000174953.14:ENST00000496811.6:exon18:c.C2150T:p.P717L 3q25.2 C3N-00177 . . . . . . . . . 18.20 D D D D D D M T D 0.824 D D D 0.742 0.549 0.592 1.004 D T D D D D 4.225 28.900 0.999 D D 0.726 7.502 0.748 8.751 1.000 0.732 0.744 0.725 0.714 . 5.560 5.560 9.765 1.176 0.676 1.000 0.999 0.982 883 Helicase-associated_domain . . . DHX36 140 0 155 44 0.221105527638191 TRUE TRUE +ENSG00000189058.9 . BCM GRCh38.p13 chr3 195568924 195568924 + C C A Missense_Mutation SNP ENST00000343267.8 exon5 c.G546T p.Q182H exonic ENSG00000189058.9 . nonsynonymous SNV ENSG00000189058.9:ENST00000343267.8:exon5:c.G546T:p.Q182H 3q29 C3N-00177 . . . . . . . . . 8.20 D D D D N D M T D 0.493 T T T 0.192 0.829 0.503 0.580 T T T T D T 1.791 17.660 0.995 N N -0.095 2.191 -0.285 1.596 0.279 0.554 0.588 0.658 0.542 . 6.060 -0.349 -0.031 0.138 0.599 0.002 0.993 0.605 856 Lipocalin/cytosolic_fatty-acid_binding_domain . . . APOD 156 1 103 36 0.258992805755396 TRUE TRUE +ENSG00000170448.12 . BCM GRCh38.p13 chr4 47884356 47884356 + G G A Missense_Mutation SNP ENST00000507489.2 exon15 c.C1906T p.P636S exonic ENSG00000170448.12 . nonsynonymous SNV ENSG00000170448.12:ENST00000507489.2:exon15:c.C1906T:p.P636S 4p12 C3N-00177 . . . . . . . . . 9.20 T T D P D D L T D 0.614 T T D 0.275 0.413 0.742 1.029 T T T T D D 3.837 26.000 0.999 D D 0.557 5.509 0.593 6.136 1.000 0.707 0.654 0.725 0.636 . 5.520 5.520 8.503 1.176 0.618 1.000 1.000 0.954 372 . . . ID=COSV61199280;OCCURENCE=1(skin) NFXL1 81 0 66 15 0.185185185185185 TRUE TRUE +ENSG00000138674.17 . BCM GRCh38.p13 chr4 82853692 82853692 + T T A Missense_Mutation SNP ENST00000395310.7 exon18 c.A2032T p.N678Y exonic ENSG00000138674.17 . nonsynonymous SNV ENSG00000138674.17:ENST00000395310.7:exon18:c.A2032T:p.N678Y 4q21.22 C3N-00177 . . . . . . . . . 5.20 D D P P N N L T D 0.332 T T T 0.035 0.307 0.301 0.355 T T T T T D 2.916 23.200 0.985 D N -0.186 1.917 -0.091 2.073 0.251 0.707 0.725 0.725 0.714 . 6.050 3.520 2.613 1.138 0.665 0.994 0.989 0.672 922 Ancestral_coatomer_element_1,_Sec16/Sec31 . . ID=COSV52344300;OCCURENCE=1(stomach) SEC31A 170 0 173 27 0.135 TRUE TRUE +ENSG00000138778.13 . BCM GRCh38.p13 chr4 103149249 103149249 + G G A Nonsense_Mutation SNP ENST00000265148.9 exon27 c.C3556T p.Q1186X exonic ENSG00000138778.13 . stopgain ENSG00000138778.13:ENST00000265148.9:exon27:c.C3556T:p.Q1186X 4q24 C3N-00177 . . . . . . . . . 4.5 . . . . . A . . . 0.854 . . . . . . . . . D D . . 5.668 34 0.993 D N 0.308 3.819 0.025 2.447 0.996 0.732 0.744 0.670 0.728 . 4.290 2.460 0.731 0.173 -0.153 0.946 0.515 0.379 911 . . . . CENPE 141 0 72 13 0.152941176470588 TRUE TRUE +ENSG00000183580.10 . BCM GRCh38.p13 chr5 15616009 15616009 + G G A Missense_Mutation SNP ENST00000504595.2 exon2 c.G64A p.D22N exonic ENSG00000183580.10 . nonsynonymous SNV ENSG00000183580.10:ENST00000504595.2:exon2:c.G64A:p.D22N 5p15.1 C3N-00177 . . . . . . . . . 9.20 T T D D D D N T N 0.635 T T T 0.204 0.190 0.547 1.727 D T T T D D 4.546 32 0.999 D D 0.664 6.645 0.737 8.499 1.000 0.706 0.574 0.710 0.714 . 5.900 5.900 9.602 1.176 0.676 1.000 1.000 0.998 883 . . . . FBXL7 161 0 125 25 0.166666666666667 TRUE TRUE +ENSG00000164588.8 . BCM GRCh38.p13 chr5 45645384 45645384 + T T C Missense_Mutation SNP ENST00000303230.6 exon2 c.A650G p.Y217C exonic ENSG00000164588.8 . nonsynonymous SNV ENSG00000164588.8:ENST00000303230.6:exon2:c.A650G:p.Y217C 5p12 C3N-00177 . . . . . . . . . 20.20 D D D D D D H D D 0.929 D D D 0.992 0.890 0.999 3.080 D D D D D D 4.125 28.000 0.998 D D 0.950 12.413 0.862 12.235 0.999 0.638 0.574 0.653 0.564 . 5.370 5.370 8.017 1.138 0.665 1.000 1.000 0.998 422 Ion_transport_domain . . . HCN1 129 0 109 29 0.210144927536232 TRUE TRUE +ENSG00000248383.4 . BCM GRCh38.p13 chr5 140927339 140927339 + A A T Missense_Mutation SNP ENST00000253807.2 exon1 c.A447T p.Q149H exonic ENSG00000248383.4 . nonsynonymous SNV ENSG00000248383.4:ENST00000253807.2:exon1:c.A447T:p.Q149H 5q31.3 C3N-00177 . . . . . . . . . 1.18 T T B B . D N T N 0.250 T T T 0.093 0.316 0.527 0.227 . T T T T T 1.277 14.220 0.907 N N -0.704 0.806 -0.624 1.011 1.000 0.652 0.547 0.641 0.555 . 5.700 1.150 -2.185 0.321 -0.050 0.000 0.978 0.902 60 Cadherin-like . . . PCDHAC1 286 0 298 72 0.194594594594595 TRUE TRUE +ENSG00000113205.5 . BCM GRCh38.p13 chr5 141102906 141102906 + G G A Missense_Mutation SNP ENST00000231130.3 exon1 c.G2257A p.V753M exonic ENSG00000113205.5 . nonsynonymous SNV ENSG00000113205.5:ENST00000231130.3:exon1:c.G2257A:p.V753M 5q31.3 C3N-00177 2.541e-05 0 0.0003 0 0 0 0 0 rs371105731 5.14 T D . . . N . T D 0.199 T T T 0.120 . 0.136 . T . T T D D 3.150 23.700 0.996 D . 0.221 3.397 0.099 2.731 0.000 0.638 0.574 0.653 0.621 . 4.330 3.430 2.671 1.100 0.526 0.997 0.995 0.536 492 . . . . PCDHB3 108 0 102 21 0.170731707317073 NA TRUE +ENSG00000181163.13 . BCM GRCh38.p13 chr5 171392920 171392920 + G G C Missense_Mutation SNP ENST00000296930.9 exon6 c.G466C p.V156L exonic ENSG00000181163.13 . nonsynonymous SNV ENSG00000181163.13:ENST00000296930.9:exon6:c.G466C:p.V156L 5q35.1 C3N-00177 . . . . . . . . . 2.20 T T B B U N L T N 0.492 T T T 0.096 0.394 0.471 0.211 T T T T T T 2.635 22.700 0.983 D D -0.188 1.909 -0.047 2.204 1.000 0.490 0.517 0.759 0.662 . 3.730 3.730 5.116 0.984 0.618 1.000 0.998 0.989 716 . . . . NPM1 126 0 110 14 0.112903225806452 TRUE TRUE +ENSG00000120129.6 . BCM GRCh38.p13 chr5 172768875 172768875 + G G A Nonsense_Mutation SNP ENST00000239223.4 exon4 c.C991T p.R331X exonic ENSG00000120129.6 . stopgain ENSG00000120129.6:ENST00000239223.4:exon4:c.C991T:p.R331X 5q35.1 C3N-00177 8.575e-06 0 0 0 0 1.532e-05 0 0 rs760298379 4.6 . . . . N D . . . 0.881 . . . . . . . . . D D . . 7.840 39 0.996 D N 0.554 5.484 0.372 4.168 1.000 0.731 0.586 0.702 0.649 . 5.510 4.590 1.834 1.176 0.676 1.000 0.147 0.207 940 . . . ID=COSV53320220;OCCURENCE=1(large_intestine) DUSP1 65 0 60 10 0.142857142857143 TRUE TRUE +ENSG00000178233.18 . BCM GRCh38.p13 chr6 44275515 44275515 + C C T Missense_Mutation SNP ENST00000451188.7 exon3 c.C689T p.T230M exonic ENSG00000178233.18 . nonsynonymous SNV ENSG00000178233.18:ENST00000451188.7:exon3:c.C689T:p.T230M 6p21.1 C3N-00177 . . . . . . . . . 16.19 D D D D D D M . D 0.807 D T D 0.649 0.592 0.205 . T T D D D D 3.887 26.300 0.999 D D 0.737 7.673 0.677 7.340 1.000 0.610 0.610 0.494 0.639 . 4.740 4.740 4.847 0.961 0.522 1.000 1.000 0.991 592 . . . ID=COSV65255419;OCCURENCE=1(large_intestine),2(prostate) TMEM151B 205 0 134 20 0.12987012987013 TRUE TRUE +ENSG00000111907.21 . BCM GRCh38.p13 chr6 125262854 125262854 + C C A Missense_Mutation SNP ENST00000534000.6 exon7 c.C507A p.N169K exonic ENSG00000111907.21 . nonsynonymous SNV ENSG00000111907.21:ENST00000534000.6:exon7:c.C507A:p.N169K 6q22.31 C3N-00177 . . . . . . . . . 1.20 T T B B N D N T N 0.139 T T T 0.067 0.335 0.138 0.511 T T T T T T 0.131 2.385 0.615 N N -0.924 0.491 -0.775 0.793 1.000 0.661 0.547 0.644 0.568 . 5.800 4.940 0.851 -0.229 -0.800 0.024 0.014 0.027 919 . . . . TPD52L1 123 0 99 24 0.195121951219512 TRUE NA +ENSG00000106546.14 . BCM GRCh38.p13 chr7 17342939 17342939 + A A T Missense_Mutation SNP ENST00000242057.9 exon11 c.A2422T p.N808Y exonic ENSG00000106546.14 . nonsynonymous SNV ENSG00000106546.14:ENST00000242057.9:exon11:c.A2422T:p.N808Y 7p21.1 C3N-00177 . . . . . . . . . 14.20 D D D D D D M T D 0.593 T T D 0.392 0.536 0.751 0.541 T T D D D T 3.997 27.000 0.989 D D 0.647 6.442 0.590 6.097 1.000 0.707 0.709 0.659 0.714 . 5.350 5.350 3.493 1.288 0.756 1.000 0.999 0.980 818 . . . . AHR 130 0 89 25 0.219298245614035 TRUE TRUE +ENSG00000164707.15 . BCM GRCh38.p13 chr7 135691232 135691232 + C C G Missense_Mutation SNP ENST00000354042.8 exon13 c.G1412C p.G471A exonic ENSG00000164707.15 . nonsynonymous SNV ENSG00000164707.15:ENST00000354042.8:exon13:c.G1412C:p.G471A 7q33 C3N-00177 . . . . . . . . . 15.20 D D D D D D M T D 0.830 T T D 0.474 0.907 0.643 1.509 D T D T D D 3.719 25.500 0.999 D D 0.897 10.979 0.869 12.502 1.000 0.615 0.588 0.659 0.635 . 5.640 5.640 7.902 1.022 0.591 1.000 0.998 0.983 830 . . . . SLC13A4 136 0 143 19 0.117283950617284 TRUE TRUE +ENSG00000148219.16 . BCM GRCh38.p13 chr9 116805743 116805743 + C C A Missense_Mutation SNP ENST00000313400.8 exon13 c.G2285T p.C762F exonic ENSG00000148219.16 . nonsynonymous SNV ENSG00000148219.16:ENST00000313400.8:exon13:c.G2285T:p.C762F 9q33.1 C3N-00177 . . . . . . . . . 15.20 D D D D D D L T D 0.915 T T D 0.435 0.517 0.143 0.354 D T D D D D 3.901 26.400 0.974 D D 0.641 6.372 0.669 7.211 1.000 0.706 0.574 0.710 0.564 . 5.310 5.310 7.240 1.026 0.599 1.000 1.000 0.999 740 . . . . ASTN2 178 0 136 12 0.0810810810810811 TRUE TRUE +ENSG00000138131.4 . BCM GRCh38.p13 chr10 98252467 98252467 + G G A Missense_Mutation SNP ENST00000260702.4 exon12 c.C1837T p.H613Y exonic ENSG00000138131.4 . nonsynonymous SNV ENSG00000138131.4:ENST00000260702.4:exon12:c.C1837T:p.H613Y 10q24.2 C3N-00177 . . . . . . . . . 15.20 D D D D D D M T D 0.902 T T D 0.579 0.510 0.757 0.575 T T D D D D 4.755 32 0.998 D D 0.987 13.527 0.896 13.564 1.000 0.660 0.573 0.537 0.592 . 5.160 5.160 9.972 1.176 0.676 1.000 0.992 0.906 762 Lysyl_oxidase,_conserved_site . . . LOXL4 110 0 108 10 0.0847457627118644 TRUE TRUE +ENSG00000173442.13 . BCM GRCh38.p13 chr11 65583314 65583314 + C C G Missense_Mutation SNP ENST00000309295.9 exon9 c.C2642G p.A881G exonic ENSG00000173442.13 . nonsynonymous SNV ENSG00000173442.13:ENST00000309295.9:exon9:c.C2642G:p.A881G 11q13.1 C3N-00177 . . . . . . . . . 4.20 D D P B N N M T N 0.150 T T D 0.074 0.227 0.600 0.077 T T T T T T 1.055 12.300 0.923 N N -0.843 0.594 -0.930 0.580 0.989 0.706 0.644 0.673 0.613 . 5.010 0.498 0.285 0.116 -0.269 0.000 0.001 0.001 280 . . . . EHBP1L1 167 0 136 18 0.116883116883117 TRUE TRUE +ENSG00000174744.14 . BCM GRCh38.p13 chr11 66338722 66338722 + T T G Missense_Mutation SNP ENST00000359957.8 exon8 c.A692C p.K231T exonic ENSG00000174744.14 . nonsynonymous SNV ENSG00000174744.14:ENST00000359957.8:exon8:c.A692C:p.K231T 11q13.2 C3N-00177 . . . . . . . . . 14.19 D D D D D D M . D 0.653 T T T 0.428 0.673 0.730 0.758 T T D D D D 4.857 33 0.998 D D 0.592 5.842 0.567 5.839 1.000 0.707 0.702 0.723 0.714 . 4.600 4.600 4.874 1.138 0.665 1.000 0.999 0.887 63 . . . . BRMS1 56 0 50 10 0.166666666666667 TRUE TRUE +ENSG00000160584.16 . BCM GRCh38.p13 chr11 116858376 116858376 + T T C Missense_Mutation SNP ENST00000375300.6 exon20 c.A2945G p.H982R exonic ENSG00000160584.16 . nonsynonymous SNV ENSG00000160584.16:ENST00000375300.6:exon20:c.A2945G:p.H982R 11q23.3 C3N-00177 . . . . . . . . . 9.16 D D . . U D . T D 0.869 T T T 0.350 . 0.339 . T . D T D D 3.633 25.200 0.998 D D 0.672 6.743 0.698 7.723 1.000 0.707 0.702 0.725 0.636 . 5.670 5.670 7.479 1.138 0.665 1.000 0.993 0.961 488 . . . . SIK3 79 0 35 5 0.125 TRUE TRUE +ENSG00000174243.10 . BCM GRCh38.p13 chr12 48832528 48832528 + C C A Missense_Mutation SNP ENST00000308025.8 exon14 c.G1849T p.A617S exonic ENSG00000174243.10 . nonsynonymous SNV ENSG00000174243.10:ENST00000308025.8:exon14:c.G1849T:p.A617S 12q13.12 C3N-00177 . . . . . . . . . 11.20 D D D D D D L T D 0.646 T T T 0.244 0.663 0.510 2.253 T T T T D D 3.931 26.500 0.998 D D 0.795 8.677 0.800 10.128 1.000 0.707 0.702 0.698 0.714 . 5.500 5.500 7.402 1.026 0.599 1.000 1.000 0.998 590 Helicase_superfamily_1/2,_ATP-binding_domain . . . DDX23 115 0 85 17 0.166666666666667 TRUE TRUE +ENSG00000119596.18 . BCM GRCh38.p13 chr14 74821120 74821120 + G G T Nonsense_Mutation SNP ENST00000325680.12 exon17 c.G6094T p.E2032X exonic ENSG00000119596.18 . stopgain ENSG00000119596.18:ENST00000325680.12:exon17:c.G6094T:p.E2032X 14q24.3 C3N-00177 . . . . . . . . . 6.7 . . . . D D . . . 0.376 . . . . . . . . . D D D . 9.728 51 0.996 D N 1.195 23.260 1.053 22.573 1.000 0.707 0.725 0.725 0.714 . 5.540 5.540 6.793 1.176 0.676 1.000 0.998 1.000 744 . . . . YLPM1 64 0 44 5 0.102040816326531 NA TRUE +ENSG00000100722.20 . BCM GRCh38.p13 chr14 88574733 88574733 + C C T Missense_Mutation SNP ENST00000251038.10 exon7 c.C902T p.S301L exonic ENSG00000100722.20 . nonsynonymous SNV ENSG00000100722.20:ENST00000251038.10:exon7:c.C902T:p.S301L 14q31.3 C3N-00177 . . . . . . . . . 14.19 D D D D D D M . D 0.824 T T T 0.260 0.282 0.192 0.413 T T D D D D 4.128 28.000 0.999 D D 0.685 6.914 0.718 8.105 1.000 0.707 0.725 0.702 0.714 . 5.700 5.700 6.649 1.022 0.591 1.000 1.000 1.000 834 . . . . ZC3H14 258 0 171 28 0.14070351758794 TRUE TRUE +ENSG00000140382.15 . BCM GRCh38.p13 chr15 77467152 77467152 + G G T Missense_Mutation SNP ENST00000336216.9 exon4 c.G295T p.D99Y exonic ENSG00000140382.15 . nonsynonymous SNV ENSG00000140382.15:ENST00000336216.9:exon4:c.G295T:p.D99Y 15q24.3 C3N-00177 . . . . . . . . . 18.20 D D D D D D L D D 0.728 D D D 0.761 0.547 0.912 1.464 D T D D D D 4.516 32 0.993 D D 0.831 9.423 0.871 12.567 1.000 0.706 0.725 0.710 0.714 . 5.950 5.950 9.597 1.176 0.676 1.000 1.000 1.000 0 . . . . HMG20A 200 2 166 16 0.0879120879120879 TRUE TRUE +ENSG00000173575.22 . BCM GRCh38.p13 chr15 92972353 92972353 + C C T Missense_Mutation SNP ENST00000394196.9 exon19 c.C2441T p.S814F exonic ENSG00000173575.22 . nonsynonymous SNV ENSG00000173575.22:ENST00000394196.9:exon19:c.C2441T:p.S814F 15q26.1 C3N-00177 . . . . . . . . . 18.20 D D D D U D H T D 0.903 D D D 0.805 0.624 0.978 2.599 D D D D D D 4.112 27.900 0.998 D D 0.852 9.892 0.741 8.593 1.000 0.707 0.725 0.725 0.714 . 5.040 4.120 7.879 1.026 0.599 1.000 1.000 0.999 901 Helicase,_C-terminal . . . CHD2 97 0 58 15 0.205479452054795 TRUE TRUE +ENSG00000140750.17 . BCM GRCh38.p13 chr16 24959923 24959923 + T T A Missense_Mutation SNP ENST00000289968.11 exon8 c.A630T p.K210N exonic ENSG00000140750.17 . nonsynonymous SNV ENSG00000140750.17:ENST00000289968.11:exon8:c.A630T:p.K210N 16p12.1 C3N-00177 . . . . . . . . . 2.20 T T P B N D N T N 0.240 T T T 0.058 0.469 0.589 0.726 T T T T T T 1.211 13.720 0.249 D N -0.294 1.629 -0.217 1.747 0.699 0.707 0.725 0.725 0.711 . 5.670 0.972 0.294 0.200 0.609 0.992 1.000 0.994 641 BAR_domain . . . ARHGAP17 134 0 129 33 0.203703703703704 TRUE TRUE +ENSG00000166164.15 . BCM GRCh38.p13 chr16 50320683 50320683 + A A G Missense_Mutation SNP ENST00000394688.7 exon14 c.T1592C p.V531A exonic ENSG00000166164.15 . nonsynonymous SNV ENSG00000166164.15:ENST00000394688.7:exon14:c.T1592C:p.V531A 16q12.1 C3N-00177 . . . . . . . . . 0.20 T T B B N N L T N 0.198 T T T 0.039 0.293 0.231 0.169 T T T T T T 1.353 14.760 0.682 N N -0.617 0.956 -0.524 1.163 1.000 0.719 0.723 0.725 0.714 . 5.680 4.590 2.390 -0.036 0.756 0.091 0.357 0.749 716 . . . . BRD7 225 0 203 35 0.147058823529412 TRUE TRUE +ENSG00000109063.15 . BCM GRCh38.p13 chr17 10629604 10629604 + G G A Missense_Mutation SNP ENST00000583535.6 exon40 c.C5789T p.S1930F exonic ENSG00000109063.15 . nonsynonymous SNV ENSG00000109063.15:ENST00000583535.6:exon40:c.C5789T:p.S1930F 17p13.1 C3N-00177 . . . . . . . . . 7.17 . D P P . N M D . 0.321 T D D 0.383 0.284 0.838 0.299 T T T T D T 3.342 24.200 0.998 D N 0.452 4.686 0.492 5.090 0.132 0.554 0.588 0.602 0.568 . 5.000 5.000 1.464 1.176 0.676 0.489 0.998 0.927 656 . . . ID=COSV56866687;OCCURENCE=1(skin) MYH3 154 0 124 22 0.150684931506849 TRUE TRUE +ENSG00000171396.12 . BCM GRCh38.p13 chr17 41160201 41160201 + A A G Missense_Mutation SNP ENST00000390661.5 exon1 c.T491C p.L164P exonic ENSG00000171396.12 . nonsynonymous SNV ENSG00000171396.12:ENST00000390661.5:exon1:c.T491C:p.L164P 17q21.2 C3N-00177 . . . . . . . . . 0.20 T T B B U N N T N 0.164 T T T 0.047 0.311 0.030 0.008 T T T T T T 0.687 8.335 0.518 N N -1.604 0.054 -1.697 0.052 0.014 0.497 0.563 0.547 0.542 . 3.290 -6.570 -0.168 0.110 0.403 0.000 0.000 0.015 261 . . . . KRTAP4-4 128 0 63 21 0.25 TRUE TRUE +ENSG00000176681.14 . BCM GRCh38.p13 chr17 46332601 46332601 + C C T Missense_Mutation SNP ENST00000320254.5 exon10 c.C4754T p.A1585V exonic ENSG00000176681.14 . nonsynonymous SNV ENSG00000176681.14:ENST00000320254.5:exon10:c.C4754T:p.A1585V 17q21.31 C3N-00177 . . . . . . . . . 3.19 D T P B . N M T D 0.323 T T T 0.059 0.254 0.043 . T T T T T T 1.544 16.020 0.976 N N -0.776 0.691 -0.873 0.657 0.000 0.693 0.659 0.653 0.668 . 2.490 0.465 1.423 0.041 -0.743 0.848 0.005 0.001 263 LRRC37A/B_like_protein_1,_C-terminal . . . LRRC37A 25 0 23 6 0.206896551724138 NA TRUE +ENSG00000129657.16 . BCM GRCh38.p13 chr17 77200644 77200644 + A A G Missense_Mutation SNP ENST00000436233.9 exon9 c.A980G p.Y327C exonic ENSG00000129657.16 . nonsynonymous SNV ENSG00000129657.16:ENST00000436233.9:exon9:c.A980G:p.Y327C 17q25.3 C3N-00177 . . . . . . . . . 17.20 D D D D D D M T D 0.877 T T D 0.585 0.629 0.764 1.626 D D D D D D 4.450 32 0.999 D D 0.908 11.265 0.838 11.347 1.000 0.731 0.702 0.744 0.649 . 5.120 5.120 8.911 1.312 0.750 1.000 0.985 0.998 988 CRAL-TRIO_lipid_binding_domain . . . SEC14L1 87 0 65 15 0.1875 TRUE TRUE +ENSG00000141429.13 . BCM GRCh38.p13 chr18 35663761 35663761 + G G T Missense_Mutation SNP ENST00000269195.5 exon2 c.G273T p.M91I exonic ENSG00000141429.13 . nonsynonymous SNV ENSG00000141429.13:ENST00000269195.5:exon2:c.G273T:p.M91I 18q12.2 C3N-00177 . . . . . . . . . 10.20 D T B B D D M T D 0.319 T T T 0.134 0.513 0.430 0.732 D D T T D T 2.665 22.800 0.995 D D 0.278 3.670 0.412 4.448 1.000 0.706 0.710 0.710 0.714 . 5.420 5.420 6.783 1.155 0.676 1.000 1.000 0.998 773 . . . . GALNT1 148 0 101 16 0.136752136752137 TRUE TRUE +ENSG00000171236.10 . BCM GRCh38.p13 chr19 4538431 4538431 + C C T Missense_Mutation SNP ENST00000306390.7 exon2 c.G553A p.A185T exonic ENSG00000171236.10 . nonsynonymous SNV ENSG00000171236.10:ENST00000306390.7:exon2:c.G553A:p.A185T 19p13.3 C3N-00177 . . . . . . . . . 1.20 T T P P N N L T N 0.051 T T T 0.077 0.190 0.316 0.108 T T T T D T 1.632 16.580 0.991 N N -0.434 1.311 -0.507 1.191 0.997 0.646 0.844 0.615 0.563 . 4.930 0.007 -1.071 1.022 0.596 0.000 0.751 0.654 906 . . . . LRG1 191 0 125 28 0.183006535947712 TRUE TRUE +ENSG00000142303.14 . BCM GRCh38.p13 chr19 8596143 8596143 + G G T Missense_Mutation SNP ENST00000597188.6 exon11 c.C1267A p.H423N exonic ENSG00000142303.14 . nonsynonymous SNV ENSG00000142303.14:ENST00000597188.6:exon11:c.C1267A:p.H423N 19p13.2 C3N-00177 . . . . . . . . . 10.16 D T . . D D . T D 0.887 T T D 0.303 0.572 0.383 1.681 D . T T D D 4.060 27.400 0.993 D D 0.494 4.990 0.510 5.252 1.000 0.635 0.588 0.644 0.655 . 4.270 4.270 9.583 1.141 0.613 1.000 1.000 0.996 819 Peptidase_M12B,_ADAM/reprolysin . . . ADAMTS10 238 2 185 35 0.159090909090909 TRUE TRUE +ENSG00000243207.6 . BCM GRCh38.p13 chr19 10114347 10114347 + G G A Missense_Mutation SNP ENST00000321826.5 exon2 c.G734A p.R245H exonic ENSG00000243207.6;ENSG00000244165.2 . nonsynonymous SNV ENSG00000244165.2:ENST00000321826.5:exon2:c.G734A:p.R245H,ENSG00000243207.6:ENST00000393796.4:exon13:c.G1994A:p.R665H 19p13.2 C3N-00177 8.622e-05 0 0 0.0001 0 9.504e-05 0 0.0002 rs138457517 0.19 T T B B N N L T N 0.133 T T T 0.064 . 0.085 0.063 . T T T T T 0.529 6.804 0.991 N N -0.914 0.503 -1.008 0.480 1.000 0.646 0.698 0.696 0.509 . 4.480 -1.700 -0.181 0.081 0.504 0.000 0.075 0.071 929 GPCR,_rhodopsin-like,_7TM . . ID=COSV53452319;OCCURENCE=1(large_intestine),1(lung),1(endometrium) PPAN-P2RY11 106 0 76 11 0.126436781609195 TRUE TRUE +ENSG00000130477.15 . BCM GRCh38.p13 chr19 17672388 17672388 + T T A Missense_Mutation SNP ENST00000519716.6 exon4 c.A260T p.Q87L exonic ENSG00000130477.15 . nonsynonymous SNV ENSG00000130477.15:ENST00000519716.6:exon4:c.A260T:p.Q87L 19p13.11 C3N-00177 . . . . . . . . . 11.20 D T P B U D M T D 0.765 T T D 0.434 0.273 0.273 0.535 T T D D D D 3.466 24.600 0.996 D D 0.317 3.868 0.379 4.213 1.000 0.672 0.578 0.702 0.568 . 4.980 4.980 7.910 1.049 0.609 1.000 1.000 0.990 895 C2_domain . . . UNC13A 168 0 123 31 0.201298701298701 TRUE TRUE +ENSG00000159231.6 . BCM GRCh38.p13 chr21 36137829 36137829 + T T G Missense_Mutation SNP ENST00000290354.6 exon2 c.T294G p.D98E exonic ENSG00000159231.6 . nonsynonymous SNV ENSG00000159231.6:ENST00000290354.6:exon2:c.T294G:p.D98E 21q22.12 C3N-00177 . . . . . . . . . 0.20 T T B B N N L T N 0.047 T T T 0.049 0.334 0.355 0.181 T T T T T T 0.603 7.541 0.724 N N -0.859 0.574 -0.747 0.832 0.996 0.732 0.610 0.696 0.728 . 5.410 2.980 0.077 1.138 0.665 0.061 0.697 0.387 773 . . . . CBR3 82 0 54 3 0.0526315789473684 TRUE NA +ENSG00000102387.15 . BCM GRCh38.p13 chrX 101283477 101283477 + G G - Frame_Shift_Del NA ENST00000372907.7 exon4 c.510delC p.Y172Ifs*33 exonic ENSG00000102387.15 . frameshift deletion ENSG00000102387.15:ENST00000372907.7:exon4:c.510delC:p.Y172Ifs*33 Xq22.1 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAF7L 53 0 55 31 0.36046511627907 TRUE TRUE +ENSG00000147223.6 . BCM GRCh38.p13 chrX 106902155 106902155 + C C A Missense_Mutation SNP ENST00000276173.5 exon2 c.G216T p.R72S exonic ENSG00000147223.6 . nonsynonymous SNV ENSG00000147223.6:ENST00000276173.5:exon2:c.G216T:p.R72S Xq22.3 C3N-00177 . . . . . . . . . 3.18 T T D P N N M . N 0.292 T T T 0.057 0.341 0.210 0.219 T T T T D T 2.476 22.400 0.988 N . . . . . 1.000 . . . . . 4.210 1.490 0.827 0.130 -0.176 0.001 0.015 0.515 305 . . . . RIPPLY1 59 0 47 21 0.308823529411765 TRUE TRUE +ENSG00000166049.11 . BCM GRCh38.p13 chrX 151623048 151623048 + G G A Missense_Mutation SNP ENST00000370357.5 exon7 c.G530A p.R177K exonic ENSG00000166049.11 . nonsynonymous SNV ENSG00000166049.11:ENST00000370357.5:exon7:c.G530A:p.R177K Xq28 C3N-00177 . . . . . . . . . 2.18 D D B B . N N T N 0.074 T T T 0.072 0.526 0.110 0.036 T T T T T T 0.035 1.570 0.826 N . . . . . 0.999 . . . . . 3.650 -3.100 -0.407 0.222 0.676 0.000 0.002 0.011 821 . . . ID=COSV64854159;OCCURENCE=1(lung) PASD1 59 0 40 26 0.393939393939394 TRUE TRUE +ENSG00000240303.8 . BCM GRCh38.p13 chr3 132639491 132639491 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000240303.8;ENSG00000274810.4 ENST00000264990.11:exon5:c.702+1G>T;ENST00000471702.2:exon30:c.4439+1G>T;ENST00000471702.2:exon30:UTR3 . . 3q22.1 C3N-00177 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.348 34 0.994 D . 1.085 16.878 0.916 14.460 1.000 0.263 0.305 0.079 0.093 0.974 5.610 5.610 7.334 1.026 0.599 1.000 0.926 0.488 850 . . . . ACAD11 42 0 52 14 0.212121212121212 TRUE TRUE +ENSG00000169247.13 . BCM GRCh38.p13 chr5 149026754 149026754 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000169247.13 ENST00000515425.6:exon12:c.2873-2A>T . . 5q32 C3N-00177 . . . . . . . . . 7.7 . . . . . D . . . . . . D . . . . . . D D D . 5.062 33 0.991 D D 1.052 15.641 0.913 14.337 1.000 0.487 0.590 0.574 0.613 . 5.370 5.370 7.399 1.138 0.609 1.000 1.000 0.992 764 . . . . SH3TC2 312 0 332 60 0.153061224489796 TRUE TRUE +ENSG00000184347.15 . BCM GRCh38.p13 chr5 168687117 168687117 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000184347.15 ENST00000519560.6:exon30:c.3177-1G>A . . 5q34 C3N-00177 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.948 33 0.995 D . 0.992 13.662 0.802 10.193 0.951 0.061 0.060 0.063 0.057 0.958 4.450 4.450 6.170 1.026 0.599 1.000 0.997 0.846 967 . . . . SLIT3 109 0 129 10 0.0719424460431655 TRUE TRUE +ENSG00000122545.20 . BCM GRCh38.p13 chr7 35872664 35872664 + - NA GGT Splice_Site INS NA NA NA NA splicing ENSG00000122545.20 ENST00000350320.10:exon4:c.277-2->GGT . . 7p14.2 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEPTIN7 NA NA NA NA NA NA NA +ENSG00000160310.18 . BCM GRCh38.p13 chr21 46658921 46658921 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000160310.18 ENST00000355680.8:exon8:c.830+1G>T . . 21q22.3 C3N-00177 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.728 34 0.996 D . 1.058 15.853 0.878 12.857 1.000 0.257 0.221 0.200 0.376 0.987 5.000 5.000 7.013 1.146 0.676 1.000 0.824 0.675 934 . . . . PRMT2 57 2 54 12 0.181818181818182 TRUE TRUE +ENSG00000142623.11 . BCM GRCh38.p13 chr1 17232899 17232899 + C C T Silent SNP ENST00000375471.5 exon11 c.C1242T p.V414V exonic ENSG00000142623.11 . synonymous SNV ENSG00000142623.11:ENST00000375471.5:exon11:c.C1242T:p.V414V 1p36.13 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PADI1 143 0 135 9 0.0625 TRUE TRUE +ENSG00000211452.11 . BCM GRCh38.p13 chr1 53894265 53894265 + G G A Unknown SNP NA NA NA NA exonic ENSG00000211452.11 . unknown UNKNOWN 1p32.3 C3N-00177 . . . . . . . . . 11.20 D D D D D D L T N 0.341 T T D 0.193 0.614 0.183 0.651 T T T T D D 2.944 23.300 0.999 D D 0.287 3.715 0.189 3.130 1.000 0.680 0.601 0.316 0.613 . 4.930 2.920 1.833 1.176 0.676 1.000 0.929 0.596 819 . . . . DIO1 129 0 80 21 0.207920792079208 TRUE TRUE +ENSG00000160712.13 . BCM GRCh38.p13 chr1 154435015 154435015 + C C T Silent SNP ENST00000368485.8 exon5 c.C666T p.I222I exonic ENSG00000160712.13 . synonymous SNV ENSG00000160712.13:ENST00000368485.8:exon5:c.C666T:p.I222I 1q21.3 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL6R 94 0 85 21 0.19811320754717 TRUE TRUE +ENSG00000000457.14 . BCM GRCh38.p13 chr1 169854321 169854321 + G G C Silent SNP ENST00000367772.8 exon13 c.C2118G p.V706V exonic ENSG00000000457.14 . synonymous SNV ENSG00000000457.14:ENST00000367772.8:exon13:c.C2118G:p.V706V 1q24.2 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCYL3 57 0 53 9 0.145161290322581 TRUE TRUE +ENSG00000257315.2 . BCM GRCh38.p13 chr1 203799748 203799748 + G G A Silent SNP ENST00000550078.2 exon1 c.G2226A p.V742V exonic ENSG00000257315.2 . synonymous SNV ENSG00000257315.2:ENST00000550078.2:exon1:c.G2226A:p.V742V 1q32.1 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBED6 118 0 87 29 0.25 TRUE TRUE +ENSG00000055332.18 . BCM GRCh38.p13 chr2 37107513 37107513 + T T C Silent SNP ENST00000233057.9 exon16 c.A1494G p.L498L exonic ENSG00000055332.18 . synonymous SNV ENSG00000055332.18:ENST00000233057.9:exon16:c.A1494G:p.L498L 2p22.2 C3N-00177 1.658e-05 0 0 0 0 3.009e-05 0 0 rs202037583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF2AK2 86 0 47 13 0.216666666666667 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178614581 178614581 + A A T Silent SNP ENST00000591111.5 exon211 c.T44010A p.P14670P exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon211:c.T44010A:p.P14670P 2q31.2 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 79 0 75 11 0.127906976744186 TRUE TRUE +ENSG00000080224.17 . BCM GRCh38.p13 chr3 97405175 97405175 + G G A Silent SNP ENST00000389672.9 exon6 c.G1632A p.R544R exonic ENSG00000080224.17 . synonymous SNV ENSG00000080224.17:ENST00000389672.9:exon6:c.G1632A:p.R544R 3q11.2 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67588697;OCCURENCE=2(skin) EPHA6 145 0 165 48 0.225352112676056 TRUE TRUE +ENSG00000121895.8 . BCM GRCh38.p13 chr4 38988929 38988929 + G G A Silent SNP ENST00000381938.4 exon4 c.C661T p.L221L exonic ENSG00000121895.8 . synonymous SNV ENSG00000121895.8:ENST00000381938.4:exon4:c.C661T:p.L221L 4p14 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM156 177 0 169 21 0.110526315789474 TRUE NA +ENSG00000196104.11 . BCM GRCh38.p13 chr4 166735035 166735035 + A A T Silent SNP ENST00000357154.7 exon12 c.T1197A p.T399T exonic ENSG00000196104.11 . synonymous SNV ENSG00000196104.11:ENST00000357154.7:exon12:c.T1197A:p.T399T 4q32.3 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPOCK3 189 0 115 29 0.201388888888889 TRUE TRUE +ENSG00000275714.2 . BCM GRCh38.p13 chr6 26020663 26020663 + C C T Silent SNP ENST00000613854.2 exon1 c.C174T p.S58S exonic ENSG00000275714.2 . synonymous SNV ENSG00000275714.2:ENST00000613854.2:exon1:c.C174T:p.S58S 6p22.2 C3N-00177 4.95e-05 0.0003 0 0.0001 0 3.003e-05 0 0 rs149549865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . H3C1 294 0 193 56 0.224899598393574 TRUE NA +ENSG00000235863.4 . BCM GRCh38.p13 chr6 33278530 33278530 + C C A Silent SNP ENST00000451237.3 exon1 c.C1111A p.R371R exonic ENSG00000235863.4 . synonymous SNV ENSG00000235863.4:ENST00000451237.3:exon1:c.C1111A:p.R371R 6p21.32 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . B3GALT4 22 0 10 3 0.230769230769231 TRUE NA +ENSG00000169436.17 . BCM GRCh38.p13 chr8 138613885 138613885 + T T C Silent SNP ENST00000303045.11 exon56 c.A3960G p.Q1320Q exonic ENSG00000169436.17 . synonymous SNV ENSG00000169436.17:ENST00000303045.11:exon56:c.A3960G:p.Q1320Q 8q24.23 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL22A1 168 0 160 20 0.111111111111111 TRUE TRUE +ENSG00000166147.14 . BCM GRCh38.p13 chr15 48515463 48515463 + G G A Silent SNP ENST00000316623.10 exon12 c.C1392T p.R464R exonic ENSG00000166147.14 . synonymous SNV ENSG00000166147.14:ENST00000316623.10:exon12:c.C1392T:p.R464R 15q21.1 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBN1 270 0 233 31 0.117424242424242 TRUE TRUE +ENSG00000157045.9 . BCM GRCh38.p13 chr16 15041627 15041627 + C C G Silent SNP ENST00000287706.8 exon6 c.G483C p.V161V exonic ENSG00000157045.9 . synonymous SNV ENSG00000157045.9:ENST00000287706.8:exon6:c.G483C:p.V161V 16p13.11 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NTAN1 143 0 139 24 0.147239263803681 TRUE TRUE +ENSG00000279640.1 . BCM GRCh38.p13 chr12 132104238 132104238 + A A T IGR SNP NA NA NA NA intergenic ENSG00000279640.1;ENSG00000185684.15 dist=3418;dist=13908 . . 12q24.33 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC138466.5 193 0 116 32 0.216216216216216 TRUE NA +ENSG00000104808.8 . BCM GRCh38.p13 chr19 48933721 48933721 + C C A 5'UTR SNP NA NA NA NA UTR5 ENSG00000104808.8 ENST00000221403.7:c.-1C>A . . 19q13.33 C3N-00177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DHDH 160 2 121 23 0.159722222222222 TRUE NA +ENSG00000142687.18 . BCM GRCh38.p13 chr1 35506886 35506886 + A A T Nonsense_Mutation SNP ENST00000325722.8 exon3 c.T392A p.L131X exonic ENSG00000142687.18 . stopgain ENSG00000142687.18:ENST00000325722.8:exon3:c.T392A:p.L131X 1p34.3 C3N-00194 8.252e-06 0 8.645e-05 0 0 0 0 0 rs766020293 4.6 . . . . N A . . . 0.104 . . . . . . . . . D D . . 5.541 34 0.982 D N 0.757 7.991 0.607 6.315 1.000 0.731 0.750 0.744 0.635 . 5.780 5.780 5.724 1.312 0.756 0.998 0.976 0.894 378 . . . . KIAA0319L 212 0 179 41 0.186363636363636 TRUE NA +ENSG00000143850.16 . BCM GRCh38.p13 chr1 204257379 204257379 + T T C Missense_Mutation SNP ENST00000272203.8 exon9 c.A1498G p.M500V exonic ENSG00000143850.16 . nonsynonymous SNV ENSG00000143850.16:ENST00000272203.8:exon9:c.A1498G:p.M500V 1q32.1 C3N-00194 . . . . . . . . . 3.20 T T P P N D L T N 0.312 T T T 0.035 0.210 0.043 0.107 T T T T T D 2.725 22.900 0.800 D N 0.166 3.157 0.208 3.224 1.000 0.653 0.610 0.676 0.655 . 5.400 2.930 3.594 1.138 0.665 1.000 0.997 0.992 772 . . . . PLEKHA6 244 0 223 16 0.0669456066945607 TRUE TRUE +ENSG00000138080.14 . BCM GRCh38.p13 chr2 27082773 27082773 + C C T Missense_Mutation SNP ENST00000380320.9 exon4 c.C1202T p.T401I exonic ENSG00000138080.14 . nonsynonymous SNV ENSG00000138080.14:ENST00000380320.9:exon4:c.C1202T:p.T401I 2p23.3 C3N-00194 . . . . . . . . . 2.20 D T B B N N N T N 0.565 T T D 0.141 0.319 0.455 0.482 T T T T T T 2.261 21.300 0.997 N N -0.583 1.018 -0.450 1.285 1.000 0.554 0.588 0.576 0.563 . 5.170 4.270 0.864 0.946 0.504 0.010 0.999 0.892 406 . . . . EMILIN1 117 1 87 32 0.26890756302521 TRUE TRUE +ENSG00000135636.14 . BCM GRCh38.p13 chr2 71539207 71539207 + C C T Missense_Mutation SNP ENST00000258104.7 exon16 c.C1448T p.S483L exonic ENSG00000135636.14 . nonsynonymous SNV ENSG00000135636.14:ENST00000258104.7:exon16:c.C1448T:p.S483L 2p13.2 C3N-00194 3.295e-05 0 0 0 0.0002 4.495e-05 0 0 rs139258703 18.20 D D D D D D M T D 0.854 D D D 0.631 . 0.926 0.585 T D D D D D 4.010 27.000 0.999 D D 0.679 6.840 0.613 6.393 1.000 0.707 0.574 0.645 0.714 . 5.050 5.050 5.580 1.026 0.599 1.000 0.998 0.940 522 Ferlin,_third_C2_domain;C2_domain . . ID=COSV50519593;OCCURENCE=1(skin) DYSF 409 0 342 125 0.267665952890792 TRUE TRUE +ENSG00000183671.12 . BCM GRCh38.p13 chr2 206176302 206176302 + G G A Missense_Mutation SNP ENST00000612892.4 exon4 c.C946T p.R316W exonic ENSG00000183671.12 . nonsynonymous SNV ENSG00000183671.12:ENST00000612892.4:exon4:c.C946T:p.R316W 2q33.3 C3N-00194 7.413e-05 0 8.637e-05 0.0001 0 8.991e-05 0 6.057e-05 rs142744381 6.19 D D D B N N L T D 0.463 T T T 0.129 . 0.638 0.091 T T T T T . 3.217 23.900 0.998 D D 0.027 2.607 0.098 2.726 1.000 0.554 0.574 0.547 0.568 . 5.700 4.790 2.581 0.161 0.676 0.888 0.307 0.872 724 . . . ID=COSV67977264;OCCURENCE=1(stomach),1(pancreas),2(skin) GPR1 225 0 178 28 0.135922330097087 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142116 10142116 + A A T Missense_Mutation SNP ENST00000256474.3 exon1 c.A269T p.N90I exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.A269T:p.N90I 3p25.3 C3N-00194 . . . . . . . . rs143985153 20.20 D D D D D D M D D 0.766 D D D 0.853 0.887 0.994 1.195 D D D D D D 4.457 32 0.992 D D 0.672 6.742 0.636 6.703 1.000 0.442 0.522 0.522 0.373 . 5.060 5.060 5.655 1.116 0.654 1.000 0.999 0.979 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56546846;OCCURENCE=12(kidney) VHL 362 0 255 127 0.332460732984293 TRUE TRUE +ENSG00000007062.11 . BCM GRCh38.p13 chr4 16024334 16024334 + A A G Missense_Mutation SNP ENST00000510224.5 exon7 c.T655C p.Y219H exonic ENSG00000007062.11 . nonsynonymous SNV ENSG00000007062.11:ENST00000510224.5:exon7:c.T655C:p.Y219H 4p15.32 C3N-00194 . . . . . . . . . 12.20 D D D D D D L T D 0.577 T T T 0.521 0.931 0.744 0.126 T D T T D D 3.906 26.400 0.998 D D 0.576 5.685 0.478 4.967 1.000 0.707 0.574 0.725 0.530 . 4.740 4.740 7.182 1.312 0.756 1.000 0.176 0.830 934 . . . . PROM1 88 0 41 11 0.211538461538462 TRUE TRUE +ENSG00000170448.12 . BCM GRCh38.p13 chr4 47890639 47890639 + T T C Missense_Mutation SNP ENST00000507489.2 exon12 c.A1517G p.H506R exonic ENSG00000170448.12 . nonsynonymous SNV ENSG00000170448.12:ENST00000507489.2:exon12:c.A1517G:p.H506R 4p12 C3N-00194 . . . . . . . . . 18.20 D D D D D D H T D 0.922 D D D 0.703 0.807 0.922 0.792 D T D D D D 4.870 33 0.998 D D 1.019 14.527 0.899 13.707 1.000 0.732 0.725 0.744 0.636 . 5.260 5.260 7.654 1.138 0.665 1.000 1.000 0.998 372 Zinc_finger,_NF-X1-type . . . NFXL1 166 0 91 5 0.0520833333333333 TRUE NA +ENSG00000138646.9 . BCM GRCh38.p13 chr4 88463555 88463555 + G G T Nonsense_Mutation SNP ENST00000264350.8 exon5 c.G712T p.E238X exonic ENSG00000138646.9 . stopgain ENSG00000138646.9:ENST00000264350.8:exon5:c.G712T:p.E238X 4q22.1 C3N-00194 . . . . . . . . . 3.6 . . . . N A . . . 0.855 . . . . . . . . . D D . . 6.346 35 0.997 N N 0.401 4.352 0.168 3.032 0.999 0.693 0.654 0.659 0.586 . 4.720 2.980 0.709 1.006 0.676 0.345 0.941 0.966 766 . . . . HERC5 78 0 49 15 0.234375 TRUE TRUE +ENSG00000035499.13 . BCM GRCh38.p13 chr5 60599090 60599090 + C C G Missense_Mutation SNP ENST00000265036.10 exon10 c.G1413C p.K471N exonic ENSG00000035499.13 . nonsynonymous SNV ENSG00000035499.13:ENST00000265036.10:exon10:c.G1413C:p.K471N 5q12.1 C3N-00194 . . . . . . . . . 14.20 D D D P D D M D D 0.398 D D D 0.441 0.474 0.924 0.547 T T T T D D 3.734 25.500 0.998 D N 0.543 5.389 0.536 5.506 1.000 0.706 0.634 0.710 0.668 . 5.740 5.740 2.534 1.026 0.549 1.000 0.999 0.949 568 . . . . DEPDC1B 83 0 44 10 0.185185185185185 TRUE TRUE +ENSG00000165671.20 . BCM GRCh38.p13 chr5 177294071 177294071 + C C T Missense_Mutation SNP ENST00000439151.6 exon23 c.C6703T p.H2235Y exonic ENSG00000165671.20 . nonsynonymous SNV ENSG00000165671.20:ENST00000439151.6:exon23:c.C6703T:p.H2235Y 5q35.3 C3N-00194 . . . . . . . . . 6.20 D D P B N N N D N 0.190 T D D 0.164 0.185 0.394 0.192 T T T T T T 1.987 19.160 0.990 D N -0.409 1.364 -0.383 1.403 1.000 0.707 0.698 0.698 0.714 . 5.040 4.160 2.638 1.026 0.599 0.142 0.545 0.811 929 . . . . NSD1 408 1 378 255 0.402843601895735 TRUE NA +ENSG00000180316.12 . BCM GRCh38.p13 chr6 36294343 36294343 + T T C Missense_Mutation SNP ENST00000312917.9 exon4 c.T400C p.F134L exonic ENSG00000180316.12 . nonsynonymous SNV ENSG00000180316.12:ENST00000312917.9:exon4:c.T400C:p.F134L 6p21.31 C3N-00194 . . . . . . . . . 4.20 T T B B N D L T D 0.157 T T T 0.175 0.446 0.730 0.396 T T T T D T 2.662 22.800 0.988 D N -0.102 2.169 0.050 2.539 0.933 0.497 0.590 0.547 0.542 . 4.780 4.780 0.765 1.138 0.665 1.000 1.000 1.000 793 . . . . PNPLA1 215 0 203 72 0.261818181818182 TRUE TRUE +ENSG00000203972.10 . BCM GRCh38.p13 chr6 49526685 49526685 + G G A Missense_Mutation SNP ENST00000371197.9 exon6 c.G638A p.C213Y exonic ENSG00000203972.10 . nonsynonymous SNV ENSG00000203972.10:ENST00000371197.9:exon6:c.G638A:p.C213Y 6p12.3 C3N-00194 . . . . . . . . . 4.20 T T D P D N L T N 0.418 T T T 0.182 0.594 0.081 . T T T T D T 3.441 24.500 0.995 D N 0.317 3.867 0.377 4.202 0.034 0.616 0.574 0.575 0.530 . 5.910 4.970 0.283 1.172 0.676 0.069 0.998 0.984 798 Glycine_N-acyltransferase,_C-terminal . . . GLYATL3 379 0 327 108 0.248275862068966 TRUE TRUE +ENSG00000154678.18 . BCM GRCh38.p13 chr7 31823216 31823216 + C C T Missense_Mutation SNP ENST00000396191.6 exon14 c.G1439A p.R480Q exonic ENSG00000154678.18 . nonsynonymous SNV ENSG00000154678.18:ENST00000396191.6:exon14:c.G1439A:p.R480Q 7p14.3 C3N-00194 3.319e-05 0 0 0 0 4.517e-05 0 6.165e-05 rs762050534 8.20 D T D B D D L T N 0.497 T T D 0.253 . 0.761 1.403 T T T T T D 3.558 24.900 0.999 D D 0.473 4.829 0.590 6.103 1.000 0.554 0.588 0.547 0.568 . 5.910 5.910 5.732 1.026 0.599 1.000 1.000 0.995 877 3'5'-cyclic_nucleotide_phosphodiesterase,_catalytic_domain . . ID=COSV58520743;OCCURENCE=1(large_intestine),3(skin),1(lung) PDE1C 93 0 107 25 0.189393939393939 TRUE TRUE +ENSG00000136250.12 . BCM GRCh38.p13 chr7 36618331 36618331 + T T - Frame_Shift_Del DEL ENST00000617537.5 exon10 c.717delA p.D240Mfs*43 exonic ENSG00000136250.12 . frameshift deletion ENSG00000136250.12:ENST00000617537.5:exon10:c.717delA:p.D240Mfs*43 7p14.2 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AOAH 138 0 52 4 0.0714285714285714 NA TRUE +ENSG00000147416.11 . BCM GRCh38.p13 chr8 20218165 20218165 + G G C Missense_Mutation SNP ENST00000276390.7 exon13 c.G1279C p.A427P exonic ENSG00000147416.11 . nonsynonymous SNV ENSG00000147416.11:ENST00000276390.7:exon13:c.G1279C:p.A427P 8p21.3 C3N-00194 . . . . . . . . . 20.20 D D D D D D H D D 0.968 D D D 0.948 0.880 0.928 2.305 D D D D D D 4.133 28.000 0.998 D D 1.022 14.636 0.934 15.308 1.000 0.707 0.725 0.725 0.714 . 5.560 5.560 8.146 1.176 0.676 1.000 0.936 0.954 960 . . . . ATP6V1B2 113 0 69 10 0.126582278481013 TRUE TRUE +ENSG00000164758.7 . BCM GRCh38.p13 chr8 117520986 117520986 + G G A Missense_Mutation SNP ENST00000297347.7 exon1 c.G110A p.G37E exonic ENSG00000164758.7 . nonsynonymous SNV ENSG00000164758.7:ENST00000297347.7:exon1:c.G110A:p.G37E 8q24.11 C3N-00194 . . . . . . . . . 17.19 D D D D D D M . D 0.982 T T D 0.737 0.666 0.734 1.672 D D D D D D 4.508 32 0.998 D D 0.923 11.672 0.907 14.042 1.000 0.442 0.504 0.522 0.373 . 5.520 5.520 9.588 1.176 0.676 1.000 0.998 0.985 780 . . . . MED30 114 0 119 44 0.269938650306748 TRUE TRUE +ENSG00000107249.23 . BCM GRCh38.p13 chr9 4125794 4125794 + C C T Missense_Mutation SNP ENST00000324333.14 exon2 c.G71A p.S24N exonic ENSG00000107249.23 . nonsynonymous SNV ENSG00000107249.23:ENST00000324333.14:exon2:c.G71A:p.S24N 9p24.2 C3N-00194 . . . . . . . . . 7.20 D T P P D D M T N 0.336 T T T 0.133 0.091 0.636 0.205 T T T T D T 2.773 23.000 0.993 D D 0.377 4.201 0.457 4.792 1.000 0.549 0.627 0.574 0.568 . 5.290 5.290 4.331 1.026 0.599 1.000 1.000 1.000 831 . . . . GLIS3 553 0 399 53 0.117256637168142 TRUE TRUE +ENSG00000150275.18 . BCM GRCh38.p13 chr10 53822152 53822152 + A A - Frame_Shift_Del DEL ENST00000320301.10 exon33 c.5574delT p.K1859Sfs*4 exonic ENSG00000150275.18 . frameshift deletion ENSG00000150275.18:ENST00000320301.10:exon33:c.5574delT:p.K1859Sfs*4 10q21.1 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDH15 448 0 303 100 0.248138957816377 TRUE TRUE +ENSG00000156502.14 . BCM GRCh38.p13 chr10 69208851 69208851 + C C G Missense_Mutation SNP ENST00000359655.9 exon15 c.C2177G p.P726R exonic ENSG00000156502.14 . nonsynonymous SNV ENSG00000156502.14:ENST00000359655.9:exon15:c.C2177G:p.P726R 10q22.1 C3N-00194 . . . . . . . . . 0.20 T T B B N N L T N 0.080 T T T 0.052 0.100 0.143 0.318 T T T T T T 0.274 3.990 0.648 N N -1.112 0.296 -1.112 0.364 0.707 0.719 0.723 0.702 0.714 . 6.010 1.610 0.076 -0.219 -0.873 0.000 0.000 0.000 744 . . . . SUPV3L1 223 0 207 78 0.273684210526316 TRUE TRUE +ENSG00000107736.21 . BCM GRCh38.p13 chr10 71739684 71739684 + T T A Missense_Mutation SNP ENST00000224721.12 exon36 c.T4400A p.F1467Y exonic ENSG00000107736.21 . nonsynonymous SNV ENSG00000107736.21:ENST00000224721.12:exon36:c.T4400A:p.F1467Y 10q22.1 C3N-00194 . . . . . . . . . 12.17 . D P P D D H . . 0.736 D D D 0.332 0.786 0.843 . T T D D D T 3.662 25.300 0.994 D D 0.810 8.979 0.736 8.484 1.000 0.497 0.547 0.547 0.542 . 5.670 5.670 6.790 1.138 0.665 1.000 0.690 0.579 827 Cadherin-like . . . CDH23 136 0 144 53 0.269035532994924 TRUE TRUE +ENSG00000165752.17 . BCM GRCh38.p13 chr10 132222643 132222643 + A A G Missense_Mutation SNP ENST00000298630.8 exon10 c.T1249C p.S417P exonic ENSG00000165752.17 . nonsynonymous SNV ENSG00000165752.17:ENST00000298630.8:exon10:c.T1249C:p.S417P 10q26.3 C3N-00194 . . . . . . . . . 8.20 T T D D U D L T N 0.574 T T D 0.269 . 0.774 0.889 T T D T D T 2.987 23.400 0.922 D D 0.022 2.589 -0.007 2.334 1.000 0.696 0.547 0.723 0.655 . 3.530 3.530 2.875 1.171 0.688 1.000 0.896 0.618 993 . . . . STK32C 81 0 90 38 0.296875 TRUE TRUE +ENSG00000117984.14 . BCM GRCh38.p13 chr11 1759582 1759582 + A A T Missense_Mutation SNP ENST00000236671.7 exon3 c.T286A p.F96I exonic ENSG00000117984.14;ENSG00000250644.3 . nonsynonymous SNV ENSG00000117984.14:ENST00000236671.7:exon3:c.T286A:p.F96I,ENSG00000250644.3:ENST00000636397.1:exon3:c.T286A:p.F96I 11p15.5 C3N-00194 . . . . . . . . . 18.20 D D D D D D M T D 0.864 D T D 0.735 0.795 0.675 1.682 D D D D D D 4.045 27.300 0.992 D D 0.672 6.739 0.557 5.723 1.000 0.707 0.644 0.644 0.714 . 4.200 4.200 5.524 1.167 0.688 1.000 0.964 0.867 982 Peptidase_family_A1_domain . . . CTSD 105 0 150 41 0.214659685863874 TRUE TRUE +ENSG00000279514.2 . BCM GRCh38.p13 chr11 55572405 55572405 + G G T Missense_Mutation SNP ENST00000623907.1 exon1 c.G278T p.S93I exonic ENSG00000279514.2 . nonsynonymous SNV ENSG00000279514.2:ENST00000623907.1:exon1:c.G278T:p.S93I 11q11 C3N-00194 . . . . . . . . . 0.16 . . P B N N N . . . T T T 0.028 0.357 . . T T T T T T 0.731 8.736 0.975 N N -1.164 0.253 -1.348 0.179 0.018 0.487 0.574 0.574 0.564 . 4.980 -7.530 -3.485 0.887 0.578 0.000 0.033 0.014 145 GPCR,_rhodopsin-like,_7TM . . . OR4C16 165 0 118 17 0.125925925925926 TRUE TRUE +ENSG00000149269.10 . BCM GRCh38.p13 chr11 77332797 77332797 + C C T Missense_Mutation SNP ENST00000356341.8 exon14 c.G1484A p.R495Q exonic ENSG00000149269.10 . nonsynonymous SNV ENSG00000149269.10:ENST00000356341.8:exon14:c.G1484A:p.R495Q 11q13.5 C3N-00194 1.648e-05 0 0.0002 0 0 0 0 0 rs751082909 4.20 T T B B N D N T N 0.628 T T T 0.131 . 0.758 1.420 T T T T T D 2.632 22.700 0.998 D D 0.041 2.661 0.256 3.469 0.999 0.707 0.725 0.725 0.668 . 5.920 5.010 5.810 1.026 0.597 1.000 1.000 0.999 397 Protein_kinase_domain . . . PAK1 205 0 177 49 0.216814159292035 TRUE NA +ENSG00000102804.15 . BCM GRCh38.p13 chr13 44434774 44434774 + T T G Missense_Mutation SNP ENST00000458659.3 exon3 c.A3074C p.N1025T exonic ENSG00000102804.15 . nonsynonymous SNV ENSG00000102804.15:ENST00000458659.3:exon3:c.A3074C:p.N1025T 13q14.11 C3N-00194 . . . . . . . . . 3.20 T T P B D D L T N 0.123 T T T 0.064 0.332 0.143 0.130 T T T T T T 2.134 20.400 0.923 D N -0.044 2.357 0.137 2.890 1.000 0.543 0.383 0.686 0.639 . 5.910 5.910 1.439 1.138 0.665 0.995 1.000 0.998 727 . . . . TSC22D1 152 0 139 35 0.201149425287356 TRUE TRUE +ENSG00000126821.8 . BCM GRCh38.p13 chr14 63727842 63727842 + G G A Missense_Mutation SNP ENST00000247225.7 exon1 c.C103T p.R35C exonic ENSG00000126821.8 . nonsynonymous SNV ENSG00000126821.8:ENST00000247225.7:exon1:c.C103T:p.R35C 14q23.2 C3N-00194 . . . . . . . . . 2.18 T T B B U N L . N 0.077 T T D 0.012 0.302 0.043 1.400 D T T T T . 1.341 14.680 0.983 N N -1.174 0.246 -1.208 0.277 1.000 0.726 0.522 0.594 0.373 . 3.530 -1.050 -0.479 0.076 0.482 0.000 0.002 0.174 826 . . . . SGPP1 175 0 182 15 0.0761421319796954 TRUE TRUE +ENSG00000156030.13 . BCM GRCh38.p13 chr14 73739153 73739153 + G G - Frame_Shift_Del DEL ENST00000286523.9 exon2 c.856delC p.Q286Rfs*32 exonic ENSG00000156030.13 . frameshift deletion ENSG00000156030.13:ENST00000286523.9:exon2:c.856delC:p.Q286Rfs*32 14q24.3 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIDEAS 65 0 44 11 0.2 TRUE TRUE +ENSG00000119596.18 . BCM GRCh38.p13 chr14 74781499 74781499 + C C T Nonsense_Mutation SNP ENST00000325680.12 exon4 c.C1456T p.Q486X exonic ENSG00000119596.18 . stopgain ENSG00000119596.18:ENST00000325680.12:exon4:c.C1456T:p.Q486X 14q24.3 C3N-00194 . . . . . . . . . 4.5 . . . . . D . . . 0.157 . . . . . . . . . D D . . 7.296 37 0.997 D N 1.144 19.707 1.016 19.827 1.000 0.707 0.725 0.725 0.714 . 5.980 5.980 4.857 1.026 0.549 1.000 1.000 0.999 598 . . . . YLPM1 162 0 60 32 0.347826086956522 TRUE TRUE +ENSG00000104047.15 . BCM GRCh38.p13 chr15 49625378 49625378 + A A G Missense_Mutation SNP ENST00000403028.8 exon2 c.A211G p.T71A exonic ENSG00000104047.15 . nonsynonymous SNV ENSG00000104047.15:ENST00000403028.8:exon2:c.A211G:p.T71A 15q21.2 C3N-00194 . . . . . . . . . 13.20 D D D D D D M T D 0.554 T T D 0.176 0.584 0.138 0.268 T T T T D D 3.652 25.200 0.998 D D 0.621 6.140 0.586 6.054 1.000 0.732 0.744 0.699 0.714 . 5.090 5.090 4.747 1.312 0.691 1.000 1.000 0.997 341 DTW . . ID=COSV52072012;OCCURENCE=1(pancreas) DTWD1 210 0 54 19 0.26027397260274 NA TRUE +ENSG00000162066.15 . BCM GRCh38.p13 chr16 2520878 2520878 + C C - Frame_Shift_Del DEL ENST00000293971.10 exon2 c.193delC p.G66Dfs*62 exonic ENSG00000162066.15 . frameshift deletion ENSG00000162066.15:ENST00000293971.10:exon2:c.193delC:p.G66Dfs*62 16p13.3 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMDHD2 77 0 74 10 0.119047619047619 TRUE TRUE +ENSG00000141084.11 . BCM GRCh38.p13 chr16 67729727 67729727 + C C A Missense_Mutation SNP ENST00000317506.8 exon9 c.G1100T p.S367I exonic ENSG00000141084.11 . nonsynonymous SNV ENSG00000141084.11:ENST00000317506.8:exon9:c.G1100T:p.S367I 16q22.1 C3N-00194 . . . . . . . . . 9.19 D D B B D D L . D 0.502 T T T 0.055 0.249 0.043 0.452 T T T T D D 2.149 20.500 0.989 D D -0.066 2.284 0.095 2.713 1.000 0.707 0.702 0.725 0.714 . 5.700 4.750 2.626 1.026 0.599 1.000 1.000 1.000 8 CTLH/CRA_C-terminal_to_LisH_motif_domain . . . RANBP10 121 0 140 16 0.102564102564103 TRUE TRUE +ENSG00000256806.6 . BCM GRCh38.p13 chr17 6652239 6652239 + C C - Frame_Shift_Del DEL ENST00000542475.3 exon1 c.326delC p.A110Pfs*56 exonic ENSG00000256806.6 . frameshift deletion ENSG00000256806.6:ENST00000542475.3:exon1:c.326delC:p.A110Pfs*56 17p13.1 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C17orf100 200 0 156 59 0.274418604651163 TRUE TRUE +ENSG00000166596.15 . BCM GRCh38.p13 chr17 9598244 9598244 + C C T Nonsense_Mutation SNP ENST00000352665.10 exon5 c.C547T p.R183X exonic ENSG00000166596.15 . stopgain ENSG00000166596.15:ENST00000352665.10:exon5:c.C547T:p.R183X 17p13.1 C3N-00194 8.413e-06 0 0 0 0 1.528e-05 0 0 rs775639416 5.6 . . . . D A . . . 0.405 . . . . . . . . . D D . . 8.055 40 0.998 D N 0.686 6.929 0.544 5.587 0.006 0.487 0.574 0.574 0.564 . 5.390 4.410 2.820 1.023 0.599 1.000 1.000 0.999 866 WD40_repeat,_conserved_site;WD40-repeat-containing_domain . . ID=COSV100234649;OCCURENCE=1(urinary_tract) CFAP52 87 0 40 7 0.148936170212766 TRUE NA +ENSG00000132141.14 . BCM GRCh38.p13 chr17 34932374 34932374 + A A C Missense_Mutation SNP ENST00000314144.10 exon11 c.T1340G p.I447S exonic ENSG00000132141.14 . nonsynonymous SNV ENSG00000132141.14:ENST00000314144.10:exon11:c.T1340G:p.I447S 17q12 C3N-00194 . . . . . . . . . 17.20 D D P P D D H D D 0.961 D D D 0.927 0.740 0.946 0.503 T D D D D D 4.098 27.700 0.993 D D 0.918 11.518 0.813 10.522 0.884 0.638 0.670 0.618 0.616 . 4.650 4.650 8.723 1.307 0.751 1.000 0.996 0.961 344 . . . . CCT6B 56 0 38 10 0.208333333333333 TRUE TRUE +ENSG00000141736.13 . BCM GRCh38.p13 chr17 39725808 39725808 + C C A Missense_Mutation SNP ENST00000269571.9 exon23 c.C2827A p.Q943K exonic ENSG00000141736.13 . nonsynonymous SNV ENSG00000141736.13:ENST00000269571.9:exon23:c.C2827A:p.Q943K 17q12 C3N-00194 . . . . . . . . . 16.19 D D D D . D N D D 0.751 D T D 0.693 0.566 0.915 2.693 T D D D D D 3.756 25.600 0.958 D D 0.467 4.788 0.520 5.350 1.000 0.722 0.694 0.702 0.735 . 5.530 4.550 7.905 1.022 0.596 1.000 1.000 0.998 588 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . ERBB2 167 0 173 58 0.251082251082251 TRUE TRUE +ENSG00000161888.11 . BCM GRCh38.p13 chr19 11155688 11155688 + A A G Missense_Mutation SNP ENST00000592540.5 exon1 c.T89C p.L30P exonic ENSG00000161888.11 . nonsynonymous SNV ENSG00000161888.11:ENST00000592540.5:exon1:c.T89C:p.L30P 19p13.2 C3N-00194 . . . . . . . . . 6.14 . D . . N D . . . 0.668 T T T 0.295 0.338 0.456 0.943 T T D D D T 3.195 23.900 0.997 D N 0.239 3.480 0.232 3.342 1.000 0.442 0.522 0.522 0.373 . 4.990 4.990 2.630 1.197 0.747 1.000 0.132 0.540 641 . . . . SPC24 160 0 153 15 0.0892857142857143 TRUE TRUE +ENSG00000173928.4 . BCM GRCh38.p13 chr19 11375817 11375817 + C C - Frame_Shift_Del DEL ENST00000312423.4 exon2 c.491delC p.Q165Sfs*33 exonic ENSG00000173928.4 . frameshift deletion ENSG00000173928.4:ENST00000312423.4:exon2:c.491delC:p.Q165Sfs*33 19p13.2 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SWSAP1 360 0 325 94 0.224343675417661 TRUE TRUE +ENSG00000105227.15 . BCM GRCh38.p13 chr19 40398756 40398756 + C C A Missense_Mutation SNP ENST00000324001.8 exon6 c.G245T p.R82L exonic ENSG00000105227.15 . nonsynonymous SNV ENSG00000105227.15:ENST00000324001.8:exon6:c.G245T:p.R82L 19q13.2 C3N-00194 . . . . . . . . . 12.20 D D D D D D N T D 0.625 T T D 0.194 0.415 0.598 0.516 T T T T D D 4.059 27.400 0.998 D D 0.349 4.042 0.425 4.537 1.000 0.726 0.686 0.594 0.605 . 5.180 5.180 3.377 0.935 0.587 1.000 0.998 0.998 759 PDZ_domain . . . PRX 358 0 336 112 0.25 TRUE TRUE +ENSG00000179846.9 . BCM GRCh38.p13 chr19 45153413 45153413 + G G - Frame_Shift_Del DEL ENST00000317951.5 exon3 c.358delC p.L120Wfs*64 exonic ENSG00000179846.9 . frameshift deletion ENSG00000179846.9:ENST00000317951.5:exon3:c.358delC:p.L120Wfs*64 19q13.32 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NKPD1 123 0 58 32 0.355555555555556 TRUE TRUE +ENSG00000063176.16 . BCM GRCh38.p13 chr19 48626199 48626199 + C C G Missense_Mutation SNP ENST00000245222.9 exon3 c.C348G p.C116W exonic ENSG00000063176.16 . nonsynonymous SNV ENSG00000063176.16:ENST00000245222.9:exon3:c.C348G:p.C116W 19q13.33 C3N-00194 . . . . . . . . . 8.20 D D D P N D M T N 0.625 T T D 0.147 0.527 0.249 1.166 T T T T D D 2.880 23.200 0.993 N N -0.033 2.397 -0.158 1.890 1.000 0.672 0.702 0.780 0.636 . 3.760 1.640 -0.046 1.026 0.599 0.011 0.999 0.999 711 . . . . SPHK2 86 0 70 28 0.285714285714286 TRUE TRUE +ENSG00000101004.15 . BCM GRCh38.p13 chr20 25478924 25478924 + T T - Frame_Shift_Del DEL ENST00000278886.11 exon16 c.2200delA p.R734Gfs*8 exonic ENSG00000101004.15 . frameshift deletion ENSG00000101004.15:ENST00000278886.11:exon16:c.2200delA:p.R734Gfs*8 20p11.21 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NINL 38 0 26 11 0.297297297297297 TRUE TRUE +ENSG00000054793.14 . BCM GRCh38.p13 chr20 51676134 51676134 + T T G Missense_Mutation SNP ENST00000338821.6 exon10 c.A874C p.K292Q exonic ENSG00000054793.14 . nonsynonymous SNV ENSG00000054793.14:ENST00000338821.6:exon10:c.A874C:p.K292Q 20q13.2 C3N-00194 . . . . . . . . . 20.20 D D D D D D H D D 0.846 D D D 0.799 0.647 0.933 2.003 D D D D D D 4.496 32 0.995 D D 0.800 8.783 0.735 8.463 1.000 0.732 0.590 0.659 0.728 . 5.610 5.610 7.634 1.130 0.660 1.000 0.658 0.673 919 . . . . ATP9A 103 0 76 30 0.283018867924528 TRUE TRUE +ENSG00000101194.18 . BCM GRCh38.p13 chr20 62966723 62966723 + G G A Missense_Mutation SNP ENST00000370351.9 exon12 c.G1138A p.A380T exonic ENSG00000101194.18 . nonsynonymous SNV ENSG00000101194.18:ENST00000370351.9:exon12:c.G1138A:p.A380T 20q13.33 C3N-00194 . . . . . . . . rs374675240 12.20 D D D D D D L T D 0.328 T T D 0.396 . 0.382 1.205 T T D T D D 3.718 25.500 0.999 D N 0.236 3.465 0.260 3.492 1.000 0.732 0.644 0.723 0.728 . 4.940 4.940 1.600 1.172 0.672 0.911 0.887 0.821 . Major_facilitator_superfamily_domain . . . SLC17A9 183 0 156 57 0.267605633802817 TRUE NA +ENSG00000198743.7 . BCM GRCh38.p13 chr21 34095976 34095976 + C C G Missense_Mutation SNP ENST00000381151.5 exon2 c.C778G p.P260A exonic ENSG00000198743.7 . nonsynonymous SNV ENSG00000198743.7:ENST00000381151.5:exon2:c.C778G:p.P260A 21q22.11 C3N-00194 . . . . . . . . . 14.15 D D . . D D . D D 0.691 D D D 0.847 0.626 0.873 1.405 T . D D D . 3.461 24.600 0.994 D D 1.045 15.405 0.971 17.167 1.000 0.672 0.702 0.576 0.636 . 5.720 5.720 7.905 1.026 0.599 1.000 1.000 1.000 227 . . . . SLC5A3 264 0 205 50 0.196078431372549 TRUE TRUE +ENSG00000142182.9 . BCM GRCh38.p13 chr21 44254661 44254661 + G G T Missense_Mutation SNP ENST00000628202.3 exon8 c.C649A p.Q217K exonic ENSG00000142182.9 . nonsynonymous SNV ENSG00000142182.9:ENST00000628202.3:exon8:c.C649A:p.Q217K 21q22.3 C3N-00194 . . . . . . . . . 0.20 T T B B N N N T N 0.063 T T T 0.110 0.272 0.536 0.179 T T T T T T -0.747 0.034 0.568 N N -1.945 0.012 -2.002 0.013 1.000 0.549 0.627 0.576 0.604 . 3.920 -7.840 -0.781 -0.972 -0.877 0.000 0.000 0.000 934 . . . . DNMT3L 130 0 160 39 0.195979899497487 TRUE TRUE +ENSG00000141959.17 . BCM GRCh38.p13 chr21 44325970 44325970 + C C T Missense_Mutation SNP ENST00000349048.9 exon20 c.C1999T p.P667S exonic ENSG00000141959.17 . nonsynonymous SNV ENSG00000141959.17:ENST00000349048.9:exon20:c.C1999T:p.P667S 21q22.3 C3N-00194 . . . . . . . . . 19.20 D D D D D D M D D 0.879 D D D 0.802 0.920 0.953 1.154 T D D D D D 3.758 25.600 0.999 D D 0.700 7.120 0.514 5.285 1.000 0.707 0.702 0.723 0.714 . 4.130 4.130 7.643 0.900 0.549 1.000 0.737 0.486 929 Phosphofructokinase_domain;Phosphofructokinase,_conserved_site . . . PFKL 77 0 64 17 0.209876543209877 TRUE TRUE +ENSG00000090402.8 . BCM GRCh38.p13 chr3 165012979 165012979 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000090402.8 ENST00000264382.8:exon34:c.4062+1G>T . . 3q26.1 C3N-00194 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.016 33 0.993 D . 0.932 11.897 0.726 8.277 0.027 0.061 0.063 0.063 0.057 0.964 4.340 4.340 4.386 1.008 0.549 1.000 0.999 0.893 850 . . . . SI 204 0 67 23 0.255555555555556 TRUE TRUE +ENSG00000205882.8 . BCM GRCh38.p13 chr8 11994123 11994131 + CTGGAAGGA CTGGAAGGA - Splice_Site DEL NA NA NA NA splicing ENSG00000205882.8 . . . 8p23.1 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DEFB134 90 0 25 4 0.137931034482759 NA TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178741701 178741701 + A A T Silent SNP ENST00000591111.5 exon46 c.T10581A p.I3527I exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon46:c.T10581A:p.I3527I 2q31.2 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 382 0 195 49 0.200819672131148 TRUE TRUE +ENSG00000089597.18 . BCM GRCh38.p13 chr11 62630661 62630661 + G G A Silent SNP ENST00000356638.8 exon11 c.C1326T p.D442D exonic ENSG00000089597.18 . synonymous SNV ENSG00000089597.18:ENST00000356638.8:exon11:c.C1326T:p.D442D 11q12.3 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GANAB 98 0 85 34 0.285714285714286 TRUE TRUE +ENSG00000166887.15 . BCM GRCh38.p13 chr15 42163664 42163664 + A A T Silent SNP ENST00000348544.4 exon21 c.T2124A p.I708I exonic ENSG00000166887.15 . synonymous SNV ENSG00000166887.15:ENST00000348544.4:exon21:c.T2124A:p.I708I 15q15.1 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS39 131 0 101 22 0.178861788617886 TRUE TRUE +ENSG00000137821.11 . BCM GRCh38.p13 chr15 71009857 71009857 + A A G Silent SNP ENST00000260382.9 exon13 c.A1458G p.A486A exonic ENSG00000137821.11 . synonymous SNV ENSG00000137821.11:ENST00000260382.9:exon13:c.A1458G:p.A486A 15q23 C3N-00194 . . . . . . . . rs956094812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC49 140 0 53 26 0.329113924050633 TRUE NA +ENSG00000198863.7 . BCM GRCh38.p13 chr17 42980612 42980612 + G G A Silent SNP ENST00000361677.5 exon1 c.G36A p.T12T exonic ENSG00000198863.7 . synonymous SNV ENSG00000198863.7:ENST00000361677.5:exon1:c.G36A:p.T12T 17q21.31 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RUNDC1 261 0 247 76 0.235294117647059 TRUE TRUE +ENSG00000175556.17 . BCM GRCh38.p13 chrX 119011839 119011839 + C C T Silent SNP ENST00000371628.8 exon8 c.C1677T p.F559F exonic ENSG00000175556.17 . synonymous SNV ENSG00000175556.17:ENST00000371628.8:exon8:c.C1677T:p.F559F Xq24 C3N-00194 1.14e-05 0 0 0 0 2.084e-05 0 0 rs761393744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59152302;OCCURENCE=1(skin),1(endometrium) LONRF3 162 0 106 23 0.178294573643411 TRUE TRUE +ENSG00000248727.6 . BCM GRCh38.p13 chr5 56464059 56464059 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000248727.6 . . . 5q11.2 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01948 200 0 139 29 0.172619047619048 TRUE NA +ENSG00000236343.1 . BCM GRCh38.p13 chr7 145006069 145006069 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000236343.1 . . . 7q35 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EI24P4 376 1 282 17 0.0568561872909699 TRUE NA +ENSG00000172382.10 . BCM GRCh38.p13 chr16 2714377 2714377 + G G A Intron SNP NA NA NA NA intronic ENSG00000172382.10 . . . 16p13.3 C3N-00194 6.729e-05 0 0 0.0002 0 9.908e-05 0 0 rs200616593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS27 126 0 146 19 0.115151515151515 TRUE NA +ENSG00000182601.7 . BCM GRCh38.p13 chr16 25692615 25692616 + GG GG AT Unknown MNP ENST00000331351.6 exon1 c.198_199delinsAT p.E67_K456del exonic ENSG00000182601.7 . stopgain ENSG00000182601.7:ENST00000331351.6:exon1:c.198_199delinsAT:p.E67_K456del 16p12.1 C3N-00194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HS3ST4 108 0 137 31 0.18452380952381 TRUE TRUE +ENSG00000179172.10 . BCM GRCh38.p13 chr1 12848104 12848104 + A A T Missense_Mutation SNP ENST00000317869.7 exon2 c.T186A p.N62K exonic ENSG00000179172.10 . nonsynonymous SNV ENSG00000179172.10:ENST00000317869.7:exon2:c.T186A:p.N62K 1p36.21 C3N-00242 . . . . . . . . . 5.18 D D P P U D . T D 0.312 T T T 0.190 0.509 0.168 0.051 T T T T D . 1.577 16.220 0.893 N N -0.851 0.584 -1.089 0.387 0.000 0.549 0.627 0.618 0.621 . 1.090 -2.180 0.339 -0.759 -0.876 0.999 0.002 0.002 934 RNA_recognition_motif_domain . . . HNRNPCL1 130 0 25 53 0.67948717948718 NA TRUE +ENSG00000090020.11 . BCM GRCh38.p13 chr1 27101254 27101254 + G G T Missense_Mutation SNP ENST00000263980.8 exon11 c.C2059A p.P687T exonic ENSG00000090020.11 . nonsynonymous SNV ENSG00000090020.11:ENST00000263980.8:exon11:c.C2059A:p.P687T 1p36.11 C3N-00242 . . . . . . . . . 13.20 D D P B D D M T D 0.843 T T D 0.323 0.511 0.305 0.947 T T D D D D 3.078 23.600 0.998 D D 0.579 5.719 0.641 6.774 1.000 0.707 0.702 0.723 0.714 . 5.290 5.290 8.750 1.176 0.676 1.000 0.987 0.966 137 Sodium/hydrogen_exchanger,_regulatory_region . . . SLC9A1 169 0 55 86 0.609929078014184 TRUE TRUE +ENSG00000132773.12 . BCM GRCh38.p13 chr1 45343344 45343344 + T T G Missense_Mutation SNP ENST00000372090.6 exon8 c.T1175G p.L392R exonic ENSG00000132773.12 . nonsynonymous SNV ENSG00000132773.12:ENST00000372090.6:exon8:c.T1175G:p.L392R 1p34.1 C3N-00242 . . . . . . . . . 0.20 T T B B N N L T N 0.145 T T T 0.055 0.585 0.528 0.682 T T T T T T 0.361 4.994 0.469 N N -0.843 0.594 -0.812 0.741 1.000 0.707 0.698 0.702 0.714 . 5.990 2.310 0.017 -0.187 -0.109 0.000 0.001 0.021 141 . . . . TOE1 318 1 187 61 0.245967741935484 TRUE TRUE +ENSG00000131781.13 . BCM GRCh38.p13 chr1 147213418 147213418 + C C T Nonsense_Mutation SNP ENST00000254090.9 exon4 c.G377A p.W126X exonic ENSG00000131781.13 . stopgain ENSG00000131781.13:ENST00000254090.9:exon4:c.G377A:p.W126X 1q21.1 C3N-00242 . . . . . . . . . 5.6 . . . . D A . . . 0.934 . . . . . . . . . D D . . 7.142 37 0.997 D N 0.984 13.433 0.887 13.192 1.000 0.554 0.588 0.574 0.621 . 5.940 5.940 7.769 1.011 0.581 1.000 0.997 0.971 738 . . . ID=COSV54210758;OCCURENCE=1(stomach) FMO5 66 0 25 39 0.609375 TRUE TRUE +ENSG00000160753.16 . BCM GRCh38.p13 chr1 155322393 155322393 + T T C Missense_Mutation SNP ENST00000368352.10 exon2 c.T620C p.L207P exonic ENSG00000160753.16 . nonsynonymous SNV ENSG00000160753.16:ENST00000368352.10:exon2:c.T620C:p.L207P 1q22 C3N-00242 . . . . . . . . . 1.20 D T B B N N L T N 0.185 T T T 0.034 0.210 0.147 1.135 T T T T T T 1.659 16.750 0.991 N N -0.850 0.585 -0.853 0.685 1.000 0.564 0.406 0.504 0.375 . 4.270 0.462 0.370 1.138 0.665 0.001 0.339 0.666 41 . . . . RUSC1 100 1 39 50 0.561797752808989 TRUE TRUE +ENSG00000116539.13 . BCM GRCh38.p13 chr1 155354542 155354542 + T T A Missense_Mutation SNP ENST00000368346.7 exon16 c.A7159T p.N2387Y exonic ENSG00000116539.13 . nonsynonymous SNV ENSG00000116539.13:ENST00000368346.7:exon16:c.A7159T:p.N2387Y 1q22 C3N-00242 . . . . . . . . . 5.20 D T B B N N N D N 0.488 T T D 0.268 0.274 0.790 1.044 T T T T D T 2.747 22.900 0.990 D N -0.216 1.831 -0.036 2.239 0.021 0.707 0.725 0.725 0.714 . 5.500 4.370 1.596 1.138 0.665 0.969 0.999 1.000 45 . . . . ASH1L 148 0 51 46 0.474226804123711 TRUE TRUE +ENSG00000084754.12 . BCM GRCh38.p13 chr2 26193766 26193775 + CTCCTTCCTG CTCCTTCCTG - Frame_Shift_Del DEL ENST00000380649.8 exon17 c.1690_1696del p.E564Lfs*9 exonic ENSG00000084754.12 . frameshift deletion ENSG00000084754.12:ENST00000380649.8:exon17:c.1690_1696del:p.E564Lfs*9 2p23.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HADHA 186 0 101 25 0.198412698412698 TRUE TRUE +ENSG00000186143.11 . BCM GRCh38.p13 chr2 27137336 27137336 + C C A Missense_Mutation SNP ENST00000335524.7 exon3 c.G994T p.G332W exonic ENSG00000186143.11 . nonsynonymous SNV ENSG00000186143.11:ENST00000335524.7:exon3:c.G994T:p.G332W 2p23.3 C3N-00242 . . . . . . . . . 1.18 T D B B . N L T N 0.352 T T T 0.014 0.295 0.099 0.755 . T T T T T 0.512 6.633 0.532 N N -1.130 0.281 -1.175 0.305 0.096 0.497 0.547 0.578 0.542 . 4.360 -0.025 -0.349 -0.083 -0.337 0.000 0.004 0.009 319 . . . . PRR30 332 0 224 72 0.243243243243243 TRUE TRUE +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32499666 32499666 + T T A Missense_Mutation SNP ENST00000421745.6 exon46 c.T8588A p.V2863D exonic ENSG00000115760.14 . nonsynonymous SNV ENSG00000115760.14:ENST00000421745.6:exon46:c.T8588A:p.V2863D 2p22.3 C3N-00242 . . . . . . . . . 12.15 D D . . D D . D D 0.887 T T D 0.739 0.719 0.977 0.477 T . D D D . 3.938 26.600 0.975 D D 0.091 2.852 0.242 3.395 1.000 0.707 0.725 0.609 0.636 . 5.270 5.270 6.192 1.138 0.665 1.000 1.000 0.994 388 . . . . BIRC6 173 0 67 49 0.422413793103448 TRUE TRUE +ENSG00000116127.18 . BCM GRCh38.p13 chr2 73519972 73519972 + C C A Nonsense_Mutation SNP ENST00000613296.5 exon11 c.C9737A p.S3246X exonic ENSG00000116127.18 . stopgain ENSG00000116127.18:ENST00000613296.5:exon11:c.C9737A:p.S3246X 2p13.1 C3N-00242 . . . . . . . . . 3.6 . . . . N A . . . 0.752 . . . . . . . . . D D . . 7.862 39 0.992 N N 0.561 5.545 0.358 4.075 0.001 0.706 0.634 0.710 0.655 . 5.620 4.700 1.941 1.026 0.599 0.993 0.390 0.006 586 . . . . ALMS1 293 0 117 128 0.522448979591837 TRUE TRUE +ENSG00000169679.15 . BCM GRCh38.p13 chr2 110674361 110674361 + G G A Missense_Mutation SNP ENST00000302759.11 exon2 c.C31T p.L11F exonic ENSG00000169679.15 . nonsynonymous SNV ENSG00000169679.15:ENST00000302759.11:exon2:c.C31T:p.L11F 2q13 C3N-00242 . . . . . . . . . 1.20 T T B B N D N T N 0.113 T T T 0.080 0.649 0.682 0.147 T T T T T T 1.189 13.550 0.265 N N -0.800 0.654 -0.494 1.212 1.000 0.732 0.686 0.744 0.728 . 5.330 4.110 4.964 0.281 -0.102 1.000 0.998 0.981 958 Mad3/Bub1_homology_region_1 . . . BUB1 157 0 91 30 0.247933884297521 TRUE TRUE +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167246619 167246619 + G G A Missense_Mutation SNP ENST00000628543.2 exon7 c.G4702A p.V1568I exonic ENSG00000163092.21 . nonsynonymous SNV ENSG00000163092.21:ENST00000628543.2:exon7:c.G4702A:p.V1568I 2q24.3 C3N-00242 0.0009 0.0001 0 0.0102 0 0 0 0.0009 rs181539061 9.18 D . D D D D M T N 0.392 T T . 0.318 . 0.309 0.155 T T T T T D 3.738 25.600 0.998 D D 0.889 10.760 0.881 12.982 1.000 0.487 0.574 0.574 0.564 . 5.570 5.570 9.593 1.166 0.665 1.000 1.000 1.000 634 . . . ID=COSV99749802;OCCURENCE=1(soft_tissue) XIRP2 273 0 144 33 0.186440677966102 TRUE NA +ENSG00000138433.16 . BCM GRCh38.p13 chr2 174349057 174349057 + A A T Missense_Mutation SNP ENST00000342016.8 exon10 c.T793A p.S265T exonic ENSG00000138433.16 . nonsynonymous SNV ENSG00000138433.16:ENST00000342016.8:exon10:c.T793A:p.S265T 2q31.1 C3N-00242 . . . . . . . . . 2.19 T T P B N N M . N 0.230 T T T 0.042 0.294 0.636 0.084 T T T T T T 1.703 17.050 0.918 D N 0.042 2.666 0.127 2.847 1.000 0.707 0.725 0.659 0.714 . 5.440 5.440 2.209 1.212 0.670 0.996 0.831 0.558 926 . . . . CIR1 122 0 72 20 0.217391304347826 TRUE TRUE +ENSG00000082126.18 . BCM GRCh38.p13 chr2 201650121 201650121 + A A T Missense_Mutation SNP ENST00000409474.8 exon19 c.T1426A p.Y476N exonic ENSG00000082126.18 . nonsynonymous SNV ENSG00000082126.18:ENST00000409474.8:exon19:c.T1426A:p.Y476N 2q33.1 C3N-00242 . . . . . . . . . 17.20 D D D D D D H T D 0.990 D T D 0.782 0.768 0.920 0.462 T D D D D D 4.259 29.200 0.992 D D 0.989 13.576 0.893 13.457 1.000 0.615 0.574 0.602 0.655 . 5.360 5.360 8.056 1.209 0.665 1.000 1.000 0.995 516 Guanylate_kinase,_conserved_site;Guanylate_kinase-like_domain;Guanylate_kinase/L-type_calcium_channel_beta_subunit . . . MPP4 149 0 44 42 0.488372093023256 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142173 10142173 + - NA CCACAGCTA In_Frame_Ins INS ENST00000256474.3 exon1 c.326_327insCCACAGCTA p.Y112_R113insHSY exonic ENSG00000134086.8 . nonframeshift insertion ENSG00000134086.8:ENST00000256474.3:exon1:c.326_327insCCACAGCTA:p.Y112_R113insHSY 3p25.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000154783.12 . BCM GRCh38.p13 chr3 14820999 14820999 + C C T Missense_Mutation SNP ENST00000285046.10 exon1 c.C1928T p.P643L exonic ENSG00000154783.12 . nonsynonymous SNV ENSG00000154783.12:ENST00000285046.10:exon1:c.C1928T:p.P643L 3p25.1 C3N-00242 3.316e-05 0 8.643e-05 0 0 4.501e-05 0 0 rs370762215 2.20 T T B B N N L T D 0.124 T T D 0.106 . 0.385 0.160 T T T T T T 0.705 8.499 0.593 N N -1.179 0.242 -1.208 0.276 0.432 0.707 0.590 0.609 0.714 . 5.320 0.344 0.416 -0.804 -0.905 0.000 0.000 0.001 923 . . . . FGD5 315 0 35 127 0.783950617283951 TRUE NA +ENSG00000183625.15 . BCM GRCh38.p13 chr3 46265541 46265541 + C C A Missense_Mutation SNP ENST00000395940.3 exon2 c.C383A p.T128K exonic ENSG00000183625.15 . nonsynonymous SNV ENSG00000183625.15:ENST00000395940.3:exon2:c.C383A:p.T128K 3p21.31 C3N-00242 8.239e-06 0 0 0.0001 0 0 0 0 rs776923069 18.20 D D D D D D H T D 0.448 D D D 0.586 0.868 0.930 0.408 T D D D D D 2.869 23.200 0.987 D D 0.762 8.084 0.631 6.628 0.018 0.497 0.590 0.547 0.542 . 5.860 5.860 1.784 1.026 0.599 0.957 0.429 0.071 450 GPCR,_rhodopsin-like,_7TM . . . CCR3 229 0 33 98 0.748091603053435 TRUE NA +ENSG00000178467.18 . BCM GRCh38.p13 chr3 49004118 49004118 + T T G Missense_Mutation SNP ENST00000383729.9 exon5 c.T745G p.F249V exonic ENSG00000178467.18 . nonsynonymous SNV ENSG00000178467.18:ENST00000383729.9:exon5:c.T745G:p.F249V 3p21.31 C3N-00242 . . . . . . . . . 17.20 D D D D D D M D D 0.769 D D D 0.897 0.498 0.675 0.687 T T D D D T 4.043 27.300 0.992 D D 0.595 5.877 0.625 6.551 1.000 0.706 0.644 0.644 0.613 . 5.720 5.720 7.461 1.138 0.665 1.000 1.000 1.000 0 EF-hand_domain;Prolyl_4-hydroxylase,_alpha_subunit;EF-Hand_1,_calcium-binding_site . . . P4HTM 113 0 19 78 0.804123711340206 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52586454 52586454 + G G A Nonsense_Mutation SNP ENST00000296302.11 exon20 c.C3358T p.R1120X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon20:c.C3358T:p.R1120X 3p21.1 C3N-00242 . . . . . . . . . 4.6 . . . . N A . . . 0.876 . . . . . . . . . D D . . 6.791 36 0.996 D N 0.660 6.600 0.473 4.919 0.000 0.707 0.654 0.725 0.714 . 5.140 3.010 2.324 -0.227 -0.154 1.000 0.210 0.838 27 . . . ID=COSV56273906;OCCURENCE=1(stomach),1(skin) PBRM1 149 0 20 67 0.770114942528736 TRUE TRUE +ENSG00000169908.12 . BCM GRCh38.p13 chr3 149375539 149375539 + T T C Missense_Mutation SNP ENST00000305366.8 exon3 c.A317G p.Y106C exonic ENSG00000169908.12 . nonsynonymous SNV ENSG00000169908.12:ENST00000305366.8:exon3:c.A317G:p.Y106C 3q25.1 C3N-00242 . . . . . . . . . 15.20 D D D D D D H T D 0.929 T T D 0.598 0.783 0.402 0.346 T T D D D D 4.535 32 0.998 D D 0.895 10.917 0.837 11.318 1.000 0.615 0.563 0.659 0.562 . 5.770 5.770 6.149 1.138 0.665 1.000 1.000 0.998 860 . . . ID=COSV59524672;OCCURENCE=2(large_intestine) TM4SF1 248 0 25 72 0.742268041237113 TRUE TRUE +ENSG00000138813.10 . BCM GRCh38.p13 chr4 99522557 99522557 + T T C Missense_Mutation SNP ENST00000326581.9 exon3 c.T185C p.L62S exonic ENSG00000138813.10 . nonsynonymous SNV ENSG00000138813.10:ENST00000326581.9:exon3:c.T185C:p.L62S 4q23 C3N-00242 . . . . . . . . . 4.19 D D P P N N M T N 0.465 T T T 0.164 0.690 0.110 0.325 . T T T D T 1.566 16.160 0.995 N N -0.232 1.788 -0.394 1.384 0.000 0.487 0.574 0.574 0.542 . 5.180 3.950 0.623 1.031 0.609 0.001 0.002 0.003 946 . . . . C4orf17 190 0 27 80 0.747663551401869 TRUE TRUE +ENSG00000248713.1 . BCM GRCh38.p13 chr4 99650397 99650397 + C C T Missense_Mutation SNP ENST00000511828.1 exon1 c.G4252A p.G1418R exonic ENSG00000248713.1 . nonsynonymous SNV ENSG00000248713.1:ENST00000511828.1:exon1:c.G4252A:p.G1418R 4q23 C3N-00242 . . . . . . . . . 2.14 D T . . . . . T N 0.374 T T T 0.031 0.273 0.560 . . T T T D T 3.215 23.900 0.999 N N -0.001 2.507 0.013 2.405 0.998 0.487 0.574 0.586 0.564 . 4.450 4.450 1.254 1.026 0.599 0.003 0.998 0.986 926 . . . . C4orf54 190 0 28 94 0.770491803278688 TRUE TRUE +ENSG00000052795.13 . BCM GRCh38.p13 chr4 158829156 158829156 + C C A Missense_Mutation SNP ENST00000264433.11 exon3 c.C312A p.S104R exonic ENSG00000052795.13 . nonsynonymous SNV ENSG00000052795.13:ENST00000264433.11:exon3:c.C312A:p.S104R 4q32.1 C3N-00242 . . . . . . . . . 3.19 T T P B . N M T N 0.282 T T D 0.054 0.386 0.162 0.280 T T T T T T 1.078 12.540 0.744 D N -0.099 2.177 -0.032 2.254 1.000 0.651 0.588 0.659 0.684 . 5.480 4.580 1.109 0.087 0.524 0.892 0.230 0.042 876 Folliculin-interacting_protein,_N-terminal_domain;Tripartite_DENN_domain,_FNIP1/2-type . . . FNIP2 131 0 17 54 0.76056338028169 TRUE TRUE +ENSG00000168671.10 . BCM GRCh38.p13 chr5 36039619 36039619 + T T A Missense_Mutation SNP ENST00000282507.8 exon5 c.A933T p.E311D exonic ENSG00000168671.10 . nonsynonymous SNV ENSG00000168671.10:ENST00000282507.8:exon5:c.A933T:p.E311D 5p13.2 C3N-00242 . . . . . . . . . 2.20 D D B B N N L T N 0.099 T T T 0.062 0.687 0.014 0.050 T T T T T T 0.492 6.424 0.992 N N -0.972 0.435 -1.134 0.342 0.998 0.706 0.590 0.710 0.564 . 3.180 -2.380 -1.536 0.195 0.605 0.000 0.013 0.029 764 . . . . UGT3A2 292 0 99 179 0.643884892086331 TRUE TRUE +ENSG00000145692.15 . BCM GRCh38.p13 chr5 79131097 79131097 + A A G Missense_Mutation SNP ENST00000274353.10 exon8 c.A1202G p.Q401R exonic ENSG00000145692.15 . nonsynonymous SNV ENSG00000145692.15:ENST00000274353.10:exon8:c.A1202G:p.Q401R 5q14.1 C3N-00242 . . . . . . . . . 5.20 D T B B N D L T N 0.463 T T T 0.097 0.117 0.323 0.111 T T T T D T 2.951 23.300 0.981 D D -0.066 2.284 0.075 2.634 0.612 0.497 0.547 0.585 0.542 . 5.250 5.250 7.327 0.322 0.751 1.000 0.893 0.752 898 . . . . BHMT 96 0 73 18 0.197802197802198 TRUE TRUE +ENSG00000164300.17 . BCM GRCh38.p13 chr5 80177353 80177353 + C C A Missense_Mutation SNP ENST00000507668.7 exon4 c.G419T p.G140V exonic ENSG00000164300.17 . nonsynonymous SNV ENSG00000164300.17:ENST00000507668.7:exon4:c.G419T:p.G140V 5q14.1 C3N-00242 . . . . . . . . . 14.19 D D D P D D M T D 0.894 T T D 0.405 0.598 0.305 . T . D D D D 3.679 25.300 0.997 D D 0.599 5.914 0.603 6.268 1.000 0.732 0.588 0.744 0.634 . 5.360 5.360 5.392 0.947 0.599 1.000 1.000 0.997 683 . . . . SERINC5 190 1 172 32 0.156862745098039 TRUE TRUE +ENSG00000137414.6 . BCM GRCh38.p13 chr6 17600930 17600930 + C C T Missense_Mutation SNP ENST00000259963.4 exon1 c.C521T p.P174L exonic ENSG00000137414.6 . nonsynonymous SNV ENSG00000137414.6:ENST00000259963.4:exon1:c.C521T:p.P174L 6p22.3 C3N-00242 . . . . . . . . . 6.18 D D B B N D L . N 0.434 T T D 0.050 0.392 0.176 0.545 D . D T T T 2.205 20.900 0.999 N N -0.581 1.023 -0.526 1.160 1.000 0.267 0.484 0.240 0.250 . 4.260 3.390 0.509 1.026 0.549 0.021 0.998 0.982 599 . . . . FAM8A1 144 0 15 75 0.833333333333333 TRUE TRUE +ENSG00000204348.10 . BCM GRCh38.p13 chr6 31969978 31969978 + A A T Missense_Mutation SNP ENST00000337523.10 exon7 c.T1090A p.S364T exonic ENSG00000204348.10 . nonsynonymous SNV ENSG00000204348.10:ENST00000337523.10:exon7:c.T1090A:p.S364T 6p21.33 C3N-00242 . . . . . . . . . 1.19 T T B B N N L T N 0.266 T T T 0.024 0.407 0.427 0.339 T T T T T . 1.762 17.460 0.870 D N -0.227 1.801 0.006 2.381 1.000 0.722 0.699 0.702 0.711 . 5.690 5.690 2.873 1.312 0.756 1.000 0.714 0.951 923 . . . . DXO 223 0 31 103 0.76865671641791 TRUE NA +ENSG00000146453.13 . BCM GRCh38.p13 chr6 159820477 159820477 + G G A Nonsense_Mutation SNP ENST00000610273.5 exon19 c.G1523A p.W508X exonic ENSG00000146453.13 . stopgain ENSG00000146453.13:ENST00000610273.5:exon19:c.G1523A:p.W508X 6q25.3 C3N-00242 . . . . . . . . . 4.6 . . . . N D . . . 0.175 . . . . . . . . . D D . . 8.815 45 0.996 D N 0.815 9.076 0.678 7.358 1.000 0.370 0.476 0.608 0.613 . 5.260 5.260 5.725 1.157 0.654 1.000 0.702 0.360 911 . . . . PNLDC1 230 0 34 73 0.682242990654206 TRUE TRUE +ENSG00000106009.16 . BCM GRCh38.p13 chr7 2538091 2538091 + C C G Missense_Mutation SNP ENST00000340611.9 exon14 c.G2444C p.G815A exonic ENSG00000106009.16 . nonsynonymous SNV ENSG00000106009.16:ENST00000340611.9:exon14:c.G2444C:p.G815A 7p22.3 C3N-00242 . . . . . . . . . 0.20 T T B B N N N T N 0.121 T T T 0.049 0.198 0.085 0.062 T T T T T T 1.127 13.020 0.709 N N -0.855 0.578 -0.806 0.750 0.983 0.707 0.702 0.780 0.714 . 5.520 1.950 1.975 0.179 -0.181 0.873 0.063 0.057 946 . . . . BRAT1 45 0 40 19 0.322033898305085 TRUE TRUE +ENSG00000002746.15 . BCM GRCh38.p13 chr7 43466530 43466530 + A A G Missense_Mutation SNP ENST00000395891.7 exon15 c.A2875G p.T959A exonic ENSG00000002746.15 . nonsynonymous SNV ENSG00000002746.15:ENST00000395891.7:exon15:c.A2875G:p.T959A 7p13 C3N-00242 . . . . . . . . . 12.20 D T P B D D L D N 0.792 D D D 0.617 0.409 0.776 0.574 T T D D D T 2.558 22.600 0.998 D D 0.548 5.430 0.606 6.300 1.000 0.554 0.547 0.602 0.530 . 5.800 5.800 6.663 1.312 0.756 1.000 0.998 0.998 867 . . . . HECW1 126 0 133 62 0.317948717948718 TRUE TRUE +ENSG00000170419.10 . BCM GRCh38.p13 chr7 54550117 54550117 + C C G Missense_Mutation SNP ENST00000407838.7 exon4 c.C581G p.S194C exonic ENSG00000170419.10 . nonsynonymous SNV ENSG00000170419.10:ENST00000407838.7:exon4:c.C581G:p.S194C 7p11.2 C3N-00242 . . . . . . . . . 11.20 D D D P D D M T D 0.273 T T T 0.116 0.225 0.393 0.503 T T T T D D 3.531 24.800 0.990 D D 0.539 5.352 0.508 5.229 0.655 0.657 0.588 0.673 0.564 . 5.060 5.060 7.391 1.026 0.599 1.000 0.636 0.368 891 . . . . VSTM2A 192 0 207 67 0.244525547445255 TRUE TRUE +ENSG00000105948.13 . BCM GRCh38.p13 chr7 139181095 139181095 + T T - Nonsense_Mutation SNP ENST00000464848.5 exon16 c.1316delT p.M440* exonic ENSG00000105948.13 . stopgain ENSG00000105948.13:ENST00000464848.5:exon16:c.1316delT:p.M440* 7q34 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC26 104 0 129 51 0.283333333333333 TRUE TRUE +ENSG00000197993.9 . BCM GRCh38.p13 chr7 142952617 142952617 + C C A Missense_Mutation SNP ENST00000355265.7 exon10 c.G1095T p.M365I exonic ENSG00000197993.9 . nonsynonymous SNV ENSG00000197993.9:ENST00000355265.7:exon10:c.G1095T:p.M365I 7q34 C3N-00242 . . . . . . . . . 6.20 T T B B N D M T N 0.514 T T D 0.377 0.728 0.663 0.225 T T T T D T 2.723 22.900 0.993 D D -0.044 2.357 0.108 2.767 0.872 0.638 0.627 0.653 0.564 . 5.550 4.680 2.883 1.026 0.599 1.000 0.998 0.971 675 Peptidase_M13,_N-terminal_domain . . . KEL 346 0 364 138 0.274900398406374 TRUE NA +ENSG00000055609.18 . BCM GRCh38.p13 chr7 152136878 152136878 + A A C Missense_Mutation SNP ENST00000262189.11 exon59 c.T14690G p.I4897S exonic ENSG00000055609.18 . nonsynonymous SNV ENSG00000055609.18:ENST00000262189.11:exon59:c.T14690G:p.I4897S 7q36.1 C3N-00242 . . . . . . . . . 19.20 D D D D U D M D D 0.918 D D D 0.890 0.653 0.992 2.757 D D D D D D 4.290 29.500 0.963 D D 0.819 9.163 0.748 8.764 1.000 0.722 0.702 0.699 0.662 . 5.190 5.190 7.337 1.312 0.756 1.000 0.947 0.850 711 Post-SET_domain . . . KMT2C 263 1 264 73 0.216617210682493 TRUE TRUE +ENSG00000130675.15 . BCM GRCh38.p13 chr7 157005792 157005792 + T T C Missense_Mutation SNP ENST00000252971.11 exon3 c.A934G p.K312E exonic ENSG00000130675.15 . nonsynonymous SNV ENSG00000130675.15:ENST00000252971.11:exon3:c.A934G:p.K312E 7q36.3 C3N-00242 . . . . . . . . . 15.20 D T P B U D M D D 0.508 D D D 0.434 0.238 0.852 . D T D D D D 3.229 23.900 0.997 D D 0.245 3.510 0.259 3.484 1.000 0.598 0.610 0.616 0.639 . 4.120 4.120 5.281 0.976 0.519 1.000 1.000 0.990 787 . . . . MNX1 458 0 673 239 0.262061403508772 TRUE TRUE +ENSG00000183117.19 . BCM GRCh38.p13 chr8 3205599 3205599 + G G C Missense_Mutation SNP ENST00000635120.2 exon31 c.C4889G p.T1630R exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon31:c.C4889G:p.T1630R 8p23.2 C3N-00242 . . . . . . . . . 5.19 D D B B N N . T D 0.563 T T D 0.266 0.659 0.350 . T T T T D T 1.305 14.420 0.986 N N -0.570 1.044 -0.649 0.974 0.000 0.487 0.574 0.547 0.564 . 5.280 1.120 1.574 -0.152 -0.693 0.006 0.159 0.820 896 CUB_domain . . . CSMD1 124 0 61 38 0.383838383838384 TRUE TRUE +ENSG00000196739.15 . BCM GRCh38.p13 chr9 114252912 114252912 + C C A Missense_Mutation SNP ENST00000356083.8 exon27 c.C3121A p.P1041T exonic ENSG00000196739.15 . nonsynonymous SNV ENSG00000196739.15:ENST00000356083.8:exon27:c.C3121A:p.P1041T 9q32 C3N-00242 . . . . . . . . . 8.19 T T P P . N L D D 0.377 D D D 0.456 0.563 0.613 0.268 T T D T D D 2.089 19.930 0.753 N N -0.079 2.243 -0.147 1.918 0.999 0.635 0.563 0.693 0.646 . 4.690 3.800 1.303 1.026 0.599 0.241 0.994 0.995 580 . . . . COL27A1 114 0 20 48 0.705882352941177 TRUE TRUE +ENSG00000130635.16 . BCM GRCh38.p13 chr9 134728674 134728674 + C C T Missense_Mutation SNP ENST00000371817.8 exon6 c.C791T p.T264M exonic ENSG00000130635.16 . nonsynonymous SNV ENSG00000130635.16:ENST00000371817.8:exon6:c.C791T:p.T264M 9q34.3 C3N-00242 2.474e-05 9.632e-05 8.645e-05 0 0 0 0 6.058e-05 rs148548209 6.20 T T P B U D L D N 0.274 T D D 0.337 . 0.631 0.612 T T T T T T 2.015 19.370 0.996 D D 0.051 2.697 0.091 2.699 1.000 0.707 0.547 0.723 0.714 . 3.930 3.930 6.221 0.941 0.587 0.993 0.874 0.611 898 . . . ID=COSV65669151;OCCURENCE=4(large_intestine),2(central_nervous_system),1(upper_aerodigestive_tract) COL5A1 309 0 40 121 0.751552795031056 TRUE TRUE +ENSG00000165449.11 . BCM GRCh38.p13 chr10 59672847 59672847 + A A G Missense_Mutation SNP ENST00000395348.7 exon3 c.T263C p.M88T exonic ENSG00000165449.11 . nonsynonymous SNV ENSG00000165449.11:ENST00000395348.7:exon3:c.T263C:p.M88T 10q21.2 C3N-00242 . . . . . . . . . 8.20 D D B B D D M T N 0.783 T T T 0.249 0.688 0.139 0.162 T T T T D T 3.062 23.500 0.986 D D 0.339 3.984 0.501 5.168 1.000 0.706 0.480 0.710 0.621 . 6.080 6.080 8.881 1.312 0.756 1.000 1.000 1.000 953 Major_facilitator_superfamily_domain . . . SLC16A9 167 0 61 69 0.530769230769231 TRUE TRUE +ENSG00000122863.6 . BCM GRCh38.p13 chr10 72005939 72005939 + A A G Missense_Mutation SNP ENST00000373115.5 exon2 c.A97G p.I33V exonic ENSG00000122863.6 . nonsynonymous SNV ENSG00000122863.6:ENST00000373115.5:exon2:c.A97G:p.I33V 10q22.1 C3N-00242 . . . . . . . . . 3.20 T T B B N N N D N 0.114 T D D 0.186 0.277 0.862 0.542 T T T T T T 1.044 12.160 0.531 N N -0.807 0.644 -0.627 1.005 0.988 0.615 0.588 0.576 0.655 . 5.660 0.236 0.499 -0.241 -0.065 0.999 0.994 0.995 725 . . . . CHST3 403 0 240 85 0.261538461538462 TRUE TRUE +ENSG00000107949.17 . BCM GRCh38.p13 chr10 125831555 125831555 + A A T Nonsense_Mutation SNP ENST00000278100.11 exon5 c.A547T p.R183X exonic ENSG00000107949.17 . stopgain ENSG00000107949.17:ENST00000278100.11:exon5:c.A547T:p.R183X 10q26.2 C3N-00242 . . . . . . . . . 4.6 . . . . D A . . . 0.982 . . . . . . . . . D D . . 5.016 33 0.997 N N 0.219 3.388 -0.033 2.250 0.995 0.719 0.723 0.725 0.711 . 5.240 1.300 0.228 1.312 0.756 0.160 1.000 0.999 945 . . . . BCCIP 121 0 29 55 0.654761904761905 TRUE TRUE +ENSG00000148824.19 . BCM GRCh38.p13 chr10 133420134 133420134 + G G - Frame_Shift_Del DEL ENST00000317502.11 exon11 c.974delG p.G326Afs*31 exonic ENSG00000148824.19 . frameshift deletion ENSG00000148824.19:ENST00000317502.11:exon11:c.974delG:p.G326Afs*31 10q26.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTG1 67 0 27 31 0.53448275862069 TRUE TRUE +ENSG00000254470.3 . BCM GRCh38.p13 chr11 65779804 65779804 + T T C Missense_Mutation SNP ENST00000532090.3 exon2 c.A689G p.E230G exonic ENSG00000254470.3 . nonsynonymous SNV ENSG00000254470.3:ENST00000532090.3:exon2:c.A689G:p.E230G 11q13.1 C3N-00242 . . . . . . . . . 3.13 T D . . . N M . N 0.105 . . D . . 0.491 0.074 T T T T . T 1.096 12.730 0.987 N N . . . . 1.000 0.742 0.522 0.775 0.639 . 4.390 4.390 -0.062 0.177 -0.157 0.000 0.001 0.003 281 . . . . AP5B1 19 0 12 9 0.428571428571429 TRUE TRUE +ENSG00000182791.5 . BCM GRCh38.p13 chr11 66591090 66591090 + T T G Missense_Mutation SNP ENST00000333861.5 exon1 c.A1926C p.E642D exonic ENSG00000182791.5 . nonsynonymous SNV ENSG00000182791.5:ENST00000333861.5:exon1:c.A1926C:p.E642D 11q13.2 C3N-00242 . . . . . . . . . 0.20 T T P B N N L T N 0.076 T T T 0.043 0.167 0.143 0.125 T T T T T T 1.050 12.230 0.987 N N -0.467 1.242 -0.534 1.147 1.000 0.516 0.588 0.576 0.586 . 4.940 1.330 -0.161 0.197 0.665 0.003 0.972 0.997 61 . . . . CCDC87 249 0 76 96 0.558139534883721 TRUE TRUE +ENSG00000165323.15 . BCM GRCh38.p13 chr11 92831943 92831943 + A A G Missense_Mutation SNP ENST00000409404.6 exon13 c.A9803G p.N3268S exonic ENSG00000165323.15 . nonsynonymous SNV ENSG00000165323.15:ENST00000409404.6:exon13:c.A9803G:p.N3268S 11q14.3 C3N-00242 . . . . . . . . . 7.15 D . . . . D M T D 0.906 T T T 0.340 0.923 0.349 . T T T T D . 3.715 25.500 0.998 D D 0.834 9.483 0.795 9.991 1.000 0.615 0.590 0.659 0.564 . 5.340 5.340 9.249 1.312 0.756 1.000 1.000 0.991 851 Cadherin-like . . . FAT3 163 0 38 80 0.677966101694915 TRUE TRUE +ENSG00000197580.13 . BCM GRCh38.p13 chr11 112214899 112214899 + G G - Frame_Shift_Del DEL ENST00000357685.11 exon10 c.1470delG p.D492Ifs*3 exonic ENSG00000197580.13 . frameshift deletion ENSG00000197580.13:ENST00000357685.11:exon10:c.1470delG:p.D492Ifs*3 11q23.1 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCO2 341 0 115 132 0.534412955465587 TRUE TRUE +ENSG00000196914.9 . BCM GRCh38.p13 chr11 120460731 120460731 + C C A Missense_Mutation SNP ENST00000397843.7 exon27 c.C2587A p.Q863K exonic ENSG00000196914.9 . nonsynonymous SNV ENSG00000196914.9:ENST00000397843.7:exon27:c.C2587A:p.Q863K 11q23.3 C3N-00242 . . . . . . . . . 5.20 T T B B N D L T N 0.419 T T T 0.110 0.510 0.592 0.693 T T T T D D 2.951 23.300 0.991 D D -0.128 2.088 0.049 2.536 0.920 0.707 0.654 0.609 0.714 . 5.780 3.760 4.560 1.026 0.599 1.000 1.000 0.998 902 Dbl_homology_(DH)_domain . . . ARHGEF12 207 2 111 30 0.212765957446809 TRUE TRUE +ENSG00000196914.9 . BCM GRCh38.p13 chr11 120465259 120465259 + A A C Missense_Mutation SNP ENST00000397843.7 exon28 c.A2636C p.K879T exonic ENSG00000196914.9 . nonsynonymous SNV ENSG00000196914.9:ENST00000397843.7:exon28:c.A2636C:p.K879T 11q23.3 C3N-00242 . . . . . . . . . 10.20 T D D D D D M T D 0.447 T T T 0.374 0.514 0.797 0.673 T T T T D T 3.790 25.800 0.998 D D 0.412 4.417 0.396 4.328 0.901 0.707 0.725 0.725 0.714 . 5.690 3.370 5.099 1.312 0.750 1.000 0.999 0.997 920 Dbl_homology_(DH)_domain . . . ARHGEF12 175 0 82 97 0.541899441340782 TRUE TRUE +ENSG00000166523.8 . BCM GRCh38.p13 chr12 8537223 8537223 + T T A Missense_Mutation SNP ENST00000299663.8 exon4 c.A264T p.Q88H exonic ENSG00000166523.8 . nonsynonymous SNV ENSG00000166523.8:ENST00000299663.8:exon4:c.A264T:p.Q88H 12p13.31 C3N-00242 . . . . . . . . . 7.20 D T D D N D L T D 0.464 T T D 0.322 0.528 0.613 0.348 T T T T D T 1.312 14.470 0.985 N N -0.493 1.190 -0.752 0.826 1.000 0.497 0.590 0.547 0.530 . 5.230 -4.160 -1.279 -0.563 -1.731 0.001 0.949 0.096 964 C-type_lectin-like;CD209-like,_C-type_lectin-like_domain . . . CLEC4E 136 0 125 22 0.149659863945578 TRUE TRUE +ENSG00000185306.13 . BCM GRCh38.p13 chr12 64390352 64390352 + G G C Missense_Mutation SNP ENST00000543942.7 exon1 c.C214G p.R72G exonic ENSG00000185306.13 . nonsynonymous SNV ENSG00000185306.13:ENST00000543942.7:exon1:c.C214G:p.R72G 12q14.2 C3N-00242 . . . . . . . . . 4.18 T D D P N N M . D 0.167 T T T 0.110 0.391 0.107 0.724 . T T T T T 1.012 11.780 0.913 N N -0.403 1.377 -0.606 1.036 1.000 0.564 0.547 0.504 0.555 . 4.530 1.060 0.364 0.168 -0.215 0.000 0.107 0.001 845 . . . . C12orf56 154 0 109 95 0.465686274509804 TRUE TRUE +ENSG00000136045.12 . BCM GRCh38.p13 chr12 107697480 107697482 + TGT TGT - In_Frame_Del DEL ENST00000412830.8 exon7 c.627_629del p.V210del exonic ENSG00000136045.12 . nonframeshift deletion ENSG00000136045.12:ENST00000412830.8:exon7:c.627_629del:p.V210del 12q23.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PWP1 98 0 40 33 0.452054794520548 TRUE TRUE +ENSG00000135094.11 . BCM GRCh38.p13 chr12 113399586 113399611 + CTTGAAGGAGCCGGAGGGCTGGGCAC CTTGAAGGAGCCGGAGGGCTGGGCAC - Frame_Shift_Del DEL ENST00000257549.9 exon2 c.98_123del p.S33Nfs*56 exonic ENSG00000135094.11 . frameshift deletion ENSG00000135094.11:ENST00000257549.9:exon2:c.98_123del:p.S33Nfs*56 12q24.13 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SDS 137 0 114 41 0.264516129032258 TRUE TRUE +ENSG00000135090.14 . BCM GRCh38.p13 chr12 118162006 118162006 + G G A Nonsense_Mutation SNP ENST00000392533.8 exon18 c.C1921T p.Q641X exonic ENSG00000135090.14 . stopgain ENSG00000135090.14:ENST00000392533.8:exon18:c.C1921T:p.Q641X 12q24.23 C3N-00242 . . . . . . . . . 5.6 . . . . D A . . . 0.562 . . . . . . . . . D D . . 8.211 41 0.998 D N 1.277 34.106 1.140 32.609 1.000 0.707 0.702 0.659 0.714 . 5.550 5.550 10.003 1.176 0.676 1.000 0.998 0.998 967 . . . . TAOK3 163 1 124 71 0.364102564102564 TRUE TRUE +ENSG00000188026.13 . BCM GRCh38.p13 chr12 123484250 123484250 + G G A Nonsense_Mutation SNP ENST00000376874.9 exon6 c.C997T p.R333X exonic ENSG00000188026.13 . stopgain ENSG00000188026.13:ENST00000376874.9:exon6:c.C997T:p.R333X 12q24.31 C3N-00242 . . . . . . . . . 3.6 . . . . N A . . . 0.211 . . . . . . . . . D D . . 6.945 36 0.998 N N 0.664 6.642 0.471 4.902 0.866 0.722 0.624 0.786 0.735 . 5.530 5.530 1.437 0.224 0.676 0.007 0.991 0.936 284 RH2_domain;Rab_interacting_lysosomal_protein,_dimerization_domain . . . RILPL1 199 0 144 96 0.4 TRUE TRUE +ENSG00000151952.16 . BCM GRCh38.p13 chr12 129073916 129073916 + C C A Nonsense_Mutation SNP ENST00000422113.7 exon9 c.G3259T p.E1087X exonic ENSG00000151952.16 . stopgain ENSG00000151952.16:ENST00000422113.7:exon9:c.G3259T:p.E1087X 12q24.33 C3N-00242 . . . . . . . . . 4.6 . . . . N D . . . 0.164 . . . . . . . . . D D . . 6.635 36 0.985 D N 0.461 4.748 0.129 2.858 0.007 0.706 0.588 0.710 0.564 . 4.220 2.280 2.613 0.086 0.599 0.819 0.000 0.009 994 . . . . TMEM132D 37 0 25 14 0.358974358974359 TRUE TRUE +ENSG00000186399.10 . BCM GRCh38.p13 chr15 30408214 30408214 + G G A Nonsense_Mutation SNP ENST00000327271.10 exon10 c.C760T p.Q254X exonic ENSG00000186399.10 . stopgain ENSG00000186399.10:ENST00000327271.10:exon10:c.C760T:p.Q254X 15q13.2 C3N-00242 . . . . . . . . . 2.4 . . . . . . . . . 0.043 . . . . . . . . . D D . . 4.567 32 0.988 N N 0.208 3.339 -0.195 1.798 0.000 0.554 0.588 0.574 0.621 . 0.810 0.810 1.060 -0.303 0.215 0.996 0.017 0.020 976 . . . . GOLGA8R 73 0 79 17 0.177083333333333 NA TRUE +ENSG00000205730.6 . BCM GRCh38.p13 chr16 19114754 19114754 + G G A Missense_Mutation SNP ENST00000381440.4 exon1 c.G293A p.S98N exonic ENSG00000205730.6 . nonsynonymous SNV ENSG00000205730.6:ENST00000381440.4:exon1:c.G293A:p.S98N 16p12.3 C3N-00242 . . . . . . . . . 0.20 T T B B U N N T N 0.059 T T T 0.041 0.326 0.151 . T T T T T T 1.446 15.390 0.945 N N -0.674 0.857 -0.602 1.043 1.000 0.685 0.484 0.674 0.273 . 4.030 0.760 1.045 1.176 0.676 0.151 0.962 0.975 899 . . . . ITPRIPL2 214 0 167 40 0.193236714975845 TRUE TRUE +ENSG00000237172.4 . BCM GRCh38.p13 chr16 67150242 67150242 + A A G Missense_Mutation SNP ENST00000449549.4 exon2 c.T244C p.F82L exonic ENSG00000237172.4 . nonsynonymous SNV ENSG00000237172.4:ENST00000449549.4:exon2:c.T244C:p.F82L 16q22.1 C3N-00242 . . . . . . . . . 6.19 T T P B . D M T N 0.391 T T D 0.121 0.201 0.187 1.878 D T T T D T 3.186 23.800 0.988 D N -0.083 2.230 -0.038 2.234 1.000 0.652 0.707 0.641 0.555 . 4.750 4.750 5.423 1.298 0.738 1.000 0.945 0.456 50 . . . . B3GNT9 49 0 31 19 0.38 TRUE TRUE +ENSG00000103150.7 . BCM GRCh38.p13 chr16 83915020 83915020 + T T A Missense_Mutation SNP ENST00000262430.6 exon5 c.T1013A p.L338H exonic ENSG00000103150.7 . nonsynonymous SNV ENSG00000103150.7:ENST00000262430.6:exon5:c.T1013A:p.L338H 16q23.3 C3N-00242 . . . . . . . . . 19.20 D D D D D D H D D 0.896 D D D 0.961 0.834 0.998 0.159 T D D D D D 3.662 25.300 0.985 D D 0.795 8.686 0.673 7.268 1.000 0.707 0.654 0.725 0.636 . 4.370 4.370 7.029 1.109 0.665 1.000 0.623 0.523 952 Malonyl-CoA_decarboxylase,_C-terminal . . . MLYCD 303 0 239 156 0.394936708860759 TRUE TRUE +ENSG00000140948.13 . BCM GRCh38.p13 chr16 87412595 87412595 + A A G Missense_Mutation SNP ENST00000268616.9 exon12 c.T1715C p.V572A exonic ENSG00000140948.13 . nonsynonymous SNV ENSG00000140948.13:ENST00000268616.9:exon12:c.T1715C:p.V572A 16q24.2 C3N-00242 . . . . . . . . . 2.19 D T B B N N L T N 0.146 T T T 0.080 0.093 0.043 0.355 T T T T T . 2.179 20.700 0.440 D N -0.503 1.171 -0.363 1.441 0.597 0.707 0.610 0.725 0.714 . 5.570 4.460 2.732 0.232 0.756 0.983 0.356 0.549 840 . . . . ZCCHC14 134 0 70 65 0.481481481481481 TRUE TRUE +ENSG00000182742.6 . BCM GRCh38.p13 chr17 48576997 48576997 + C C G Missense_Mutation SNP ENST00000332503.6 exon2 c.G481C p.E161Q exonic ENSG00000182742.6 . nonsynonymous SNV ENSG00000182742.6:ENST00000332503.6:exon2:c.G481C:p.E161Q 17q21.32 C3N-00242 . . . . . . . . . 17.20 D D D D D D M D N 0.252 D D D 0.741 0.224 0.969 1.920 T T D D D D 4.105 27.800 0.998 D D 0.964 12.817 0.885 13.106 1.000 0.598 0.587 0.596 0.562 . 5.270 5.270 6.151 1.022 0.591 1.000 1.000 0.997 649 Homeobox_domain . . . HOXB4 69 0 47 15 0.241935483870968 TRUE TRUE +ENSG00000134760.6 . BCM GRCh38.p13 chr18 31354973 31354973 + - NA GACAGAAAGAGA In_Frame_Ins INS ENST00000257192.5 exon15 c.2777_2778insGACAGAAAGAGA p.V926_I927insTERE exonic ENSG00000134760.6 . nonframeshift insertion ENSG00000134760.6:ENST00000257192.5:exon15:c.2777_2778insGACAGAAAGAGA:p.V926_I927insTERE 18q12.1 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DSG1 NA NA NA NA NA NA NA +ENSG00000105397.14 . BCM GRCh38.p13 chr19 10364966 10364966 + G G A Missense_Mutation SNP ENST00000525621.6 exon8 c.C1094T p.P365L exonic ENSG00000105397.14 . nonsynonymous SNV ENSG00000105397.14:ENST00000525621.6:exon8:c.C1094T:p.P365L 19p13.2 C3N-00242 4.975e-05 9.692e-05 8.687e-05 0 0 4.531e-05 0 6.077e-05 rs373929549 0.20 T T B B N N L T N 0.126 T T T 0.013 . 0.306 0.277 T T T T T T 0.454 6.021 0.325 N N -1.028 0.374 -1.038 0.443 0.001 0.706 0.702 0.710 0.714 . 3.910 1.740 -0.012 -0.481 -0.176 0.014 0.000 0.000 764 FERM_domain . . . TYK2 163 0 98 78 0.443181818181818 TRUE NA +ENSG00000099308.10 . BCM GRCh38.p13 chr19 18149490 18149490 + C C T Missense_Mutation SNP ENST00000262811.10 exon27 c.C3694T p.R1232W exonic ENSG00000099308.10 . nonsynonymous SNV ENSG00000099308.10:ENST00000262811.10:exon27:c.C3694T:p.R1232W 19p13.11 C3N-00242 0 0 0 0 0 0 0 0 rs757453640 7.20 T D D P N D L T N 0.235 T T D 0.141 0.315 0.594 1.093 D T T T D D 3.034 23.500 0.998 N N -0.284 1.653 -0.396 1.380 0.997 0.461 0.577 0.576 0.568 . 4.560 0.464 -0.016 0.026 0.469 0.118 0.079 0.696 964 . . . . MAST3 100 0 83 68 0.450331125827815 TRUE NA +ENSG00000005007.13 . BCM GRCh38.p13 chr19 18863568 18863568 + A A C Missense_Mutation SNP ENST00000599848.5 exon19 c.A2764C p.M922L exonic ENSG00000005007.13 . nonsynonymous SNV ENSG00000005007.13:ENST00000599848.5:exon19:c.A2764C:p.M922L 19p13.11 C3N-00242 . . . . . . . . . 11.20 T T B B D D N D N 0.609 T T D 0.392 0.362 0.853 1.113 D T D D D D 2.450 22.300 0.906 D D -0.208 1.854 0.012 2.400 1.000 0.672 0.702 0.644 0.711 . 4.470 4.470 8.968 1.207 0.756 1.000 1.000 0.997 923 . . . . UPF1 122 0 83 61 0.423611111111111 TRUE TRUE +ENSG00000086544.3 . BCM GRCh38.p13 chr19 40717386 40717386 + G G T Missense_Mutation SNP ENST00000263370.3 exon1 c.G251T p.S84I exonic ENSG00000086544.3 . nonsynonymous SNV ENSG00000086544.3:ENST00000263370.3:exon1:c.G251T:p.S84I 19q13.2 C3N-00242 1.805e-05 0.0002 0 0 0 0 0 0 rs772973828 1.19 D T B B N N N . N 0.100 T T T 0.026 0.282 0.329 0.469 T T T T T T 1.259 14.090 0.731 N N -1.113 0.295 -1.171 0.308 1.000 0.243 0.219 0.391 0.373 . 2.900 -0.810 0.217 -0.248 -0.190 0.000 0.002 0.008 536 . . . . ITPKC 212 0 134 114 0.459677419354839 TRUE NA +ENSG00000105538.10 . BCM GRCh38.p13 chr19 48729053 48729053 + G G - Frame_Shift_Del DEL ENST00000222145.9 exon5 c.1717delC p.L573Sfs*62 exonic ENSG00000105538.10 . frameshift deletion ENSG00000105538.10:ENST00000222145.9:exon5:c.1717delC:p.L573Sfs*62 19q13.33 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASIP1 46 0 28 14 0.333333333333333 TRUE TRUE +ENSG00000100346.18 . BCM GRCh38.p13 chr22 39664740 39664740 + T T G Missense_Mutation SNP ENST00000402142.4 exon21 c.T3668G p.V1223G exonic ENSG00000100346.18 . nonsynonymous SNV ENSG00000100346.18:ENST00000402142.4:exon21:c.T3668G:p.V1223G 22q13.1 C3N-00242 . . . . . . . . . 19.20 D D D D D D M D D 0.512 D D D 0.968 0.816 0.974 2.304 T D D D D D 4.199 28.600 0.994 D D 0.681 6.861 0.532 5.464 1.000 0.652 0.578 0.641 0.563 . 4.450 4.450 7.802 1.136 0.663 1.000 0.994 0.668 844 Ion_transport_domain . . . CACNA1I 80 0 86 10 0.104166666666667 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53193448 53193466 + TGCGGATCCTCTCCAGGTC TGCGGATCCTCTCCAGGTC - Frame_Shift_Del DEL ENST00000375401.8 exon25 c.4288_4306del p.D1430Hfs*42 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon25:c.4288_4306del:p.D1430Hfs*42 Xp11.22 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 217 0 21 144 0.872727272727273 TRUE TRUE +ENSG00000158571.11 . BCM GRCh38.p13 chrX 54934950 54934950 + A A T Missense_Mutation SNP ENST00000375006.8 exon12 c.T1288A p.Y430N exonic ENSG00000158571.11 . nonsynonymous SNV ENSG00000158571.11:ENST00000375006.8:exon12:c.T1288A:p.Y430N Xp11.21 C3N-00242 . . . . . . . . . 15.18 D D D P D D H . D 0.792 T T D 0.636 0.673 0.712 0.242 D D D D D D 2.771 23.000 0.978 D . . . . . 0.031 . . . . . 4.290 3.070 7.293 0.259 -0.211 1.000 0.999 0.835 203 . . . . PFKFB1 97 0 10 80 0.888888888888889 TRUE TRUE +ENSG00000213892.12 . BCM GRCh38.p13 chr19 44703348 44703348 + G G - Splice_Site SNP NA NA NA NA splicing ENSG00000213892.12 ENST00000587331.7:exon3:c.38-1G>- . . 19q13.32 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEACAM16 39 0 32 26 0.448275862068966 TRUE TRUE +ENSG00000154305.18 . BCM GRCh38.p13 chr1 222632235 222632235 + A A G Silent SNP ENST00000344922.10 exon5 c.A3240G p.E1080E exonic ENSG00000154305.18 . synonymous SNV ENSG00000154305.18:ENST00000344922.10:exon5:c.A3240G:p.E1080E 1q41 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIA3 190 0 62 66 0.515625 TRUE TRUE +ENSG00000136731.13 . BCM GRCh38.p13 chr2 128121272 128121272 + T T G Silent SNP ENST00000259253.11 exon10 c.T1047G p.L349L exonic ENSG00000136731.13 . synonymous SNV ENSG00000136731.13:ENST00000259253.11:exon10:c.T1047G:p.L349L 2q14.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UGGT1 95 0 27 46 0.63013698630137 TRUE TRUE +ENSG00000125046.15 . BCM GRCh38.p13 chr3 8623648 8623648 + G G A Silent SNP ENST00000317371.8 exon18 c.C816T p.P272P exonic ENSG00000125046.15 . synonymous SNV ENSG00000125046.15:ENST00000317371.8:exon18:c.C816T:p.P272P 3p25.3 C3N-00242 . . . . . . . . rs374272577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSUH2 39 0 9 31 0.775 TRUE NA +ENSG00000183763.9 . BCM GRCh38.p13 chr3 49829160 49829160 + C C T Silent SNP ENST00000331456.7 exon15 c.G1353A p.R451R exonic ENSG00000183763.9 . synonymous SNV ENSG00000183763.9:ENST00000331456.7:exon15:c.G1353A:p.R451R 3p21.31 C3N-00242 8.236e-06 0 0 0 0 1.498e-05 0 0 rs761901770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAIP 262 0 39 69 0.638888888888889 TRUE NA +ENSG00000091490.11 . BCM GRCh38.p13 chr4 25782356 25782356 + G G C Silent SNP ENST00000399878.8 exon15 c.C2343G p.A781A exonic ENSG00000091490.11 . synonymous SNV ENSG00000091490.11:ENST00000399878.8:exon15:c.C2343G:p.A781A 4p15.2 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEL1L3 168 0 23 36 0.610169491525424 TRUE TRUE +ENSG00000248383.4 . BCM GRCh38.p13 chr5 140929142 140929142 + T T C Silent SNP ENST00000253807.2 exon1 c.T2250C p.L750L exonic ENSG00000248383.4 . synonymous SNV ENSG00000248383.4:ENST00000253807.2:exon1:c.T2250C:p.L750L 5q31.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHAC1 158 0 64 96 0.6 TRUE TRUE +ENSG00000118515.11 . BCM GRCh38.p13 chr6 134171730 134171730 + A A G Silent SNP ENST00000237305.11 exon9 c.T789C p.Y263Y exonic ENSG00000118515.11 . synonymous SNV ENSG00000118515.11:ENST00000237305.11:exon9:c.T789C:p.Y263Y 6q23.2 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SGK1 140 0 11 60 0.845070422535211 TRUE TRUE +ENSG00000055208.19 . BCM GRCh38.p13 chr6 149378918 149378918 + A A C Silent SNP ENST00000637181.2 exon3 c.A1003C p.R335R exonic ENSG00000055208.19 . synonymous SNV ENSG00000055208.19:ENST00000637181.2:exon3:c.A1003C:p.R335R 6q25.1 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAB2 391 2 59 179 0.752100840336134 TRUE TRUE +ENSG00000179058.7 . BCM GRCh38.p13 chr9 129620539 129620539 + G G A Silent SNP ENST00000372478.4 exon1 c.C36T p.D12D exonic ENSG00000179058.7 . synonymous SNV ENSG00000179058.7:ENST00000372478.4:exon1:c.C36T:p.D12D 9q34.11 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C9orf50 38 0 7 18 0.72 TRUE TRUE +ENSG00000166004.15 . BCM GRCh38.p13 chr11 93729744 93729744 + T T C Silent SNP ENST00000325212.11 exon27 c.T7530C p.N2510N exonic ENSG00000166004.15 . synonymous SNV ENSG00000166004.15:ENST00000325212.11:exon27:c.T7530C:p.N2510N 11q21 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEP295 91 0 41 20 0.327868852459016 TRUE TRUE +ENSG00000134917.10 . BCM GRCh38.p13 chr11 130428059 130428059 + C C G Silent SNP ENST00000257359.7 exon1 c.G228C p.A76A exonic ENSG00000134917.10 . synonymous SNV ENSG00000134917.10:ENST00000257359.7:exon1:c.G228C:p.A76A 11q24.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS8 195 0 144 12 0.0769230769230769 TRUE TRUE +ENSG00000102781.14 . BCM GRCh38.p13 chr13 30240562 30240562 + A A G Silent SNP ENST00000380615.8 exon6 c.T624C p.D208D exonic ENSG00000102781.14 . synonymous SNV ENSG00000102781.14:ENST00000380615.8:exon6:c.T624C:p.D208D 13q12.3 C3N-00242 . . . . . . . . rs1053156285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KATNAL1 133 0 64 43 0.401869158878505 TRUE NA +ENSG00000157450.15 . BCM GRCh38.p13 chr15 59066885 59066885 + A A G Silent SNP ENST00000557998.5 exon6 c.A1488G p.A496A exonic ENSG00000157450.15 . synonymous SNV ENSG00000157450.15:ENST00000557998.5:exon6:c.A1488G:p.A496A 15q22.2 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF111 358 0 222 134 0.376404494382022 TRUE TRUE +ENSG00000188368.9 . BCM GRCh38.p13 chr19 42310272 42310272 + G G A Silent SNP ENST00000499536.2 exon2 c.G603A p.G201G exonic ENSG00000188368.9 . synonymous SNV ENSG00000188368.9:ENST00000499536.2:exon2:c.G603A:p.G201G 19q13.2 C3N-00242 . . . . . . . . . 0.10 . T B B . N . . . 0.178 . . T . . 0.252 . . . T T . T 0.344 4.794 0.662 N N . . . . 0.006 0.696 0.588 0.723 0.664 . 4.330 -2.020 0.266 1.176 0.676 0.932 0.159 0.268 595 . . . . PRR19 144 0 85 83 0.494047619047619 TRUE TRUE +ENSG00000177663.14 . BCM GRCh38.p13 chr22 17109031 17109031 + G G A Silent SNP ENST00000319363.11 exon13 c.G1812A p.E604E exonic ENSG00000177663.14 . synonymous SNV ENSG00000177663.14:ENST00000319363.11:exon13:c.G1812A:p.E604E 22q11.1 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL17RA 315 0 175 133 0.431818181818182 TRUE TRUE +ENSG00000241370.5 . BCM GRCh38.p13 chr6 30345171 30345171 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000241370.5 ENST00000442966.6:c.-1G>A . . 6p22.1 C3N-00242 0 0 0 0 0 0 0 0 rs533505422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPP21 122 0 19 26 0.577777777777778 TRUE NA +ENSG00000179603.18 . BCM GRCh38.p13 chr7 126701812 126701812 + A A C Intron SNP NA NA NA NA intronic ENSG00000179603.18 . . . 7q31.33 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRM8 137 0 73 112 0.605405405405405 TRUE NA +ENSG00000185507.21 . BCM GRCh38.p13 chr11 615074 615074 + C C T Intron SNP NA NA NA NA intronic ENSG00000185507.21 . . . 11p15.5 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRF7 75 1 37 50 0.574712643678161 TRUE NA +ENSG00000175773.13 . BCM GRCh38.p13 chr11 130401815 130401815 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000175773.13 . . . 11q24.3 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBTB44-DT 165 0 88 36 0.290322580645161 TRUE NA +ENSG00000103978.16 . BCM GRCh38.p13 chr15 42272961 42272961 + A A G Intron SNP NA NA NA NA intronic ENSG00000103978.16 . . . 15q15.1 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM87A 96 0 54 32 0.372093023255814 TRUE NA +ENSG00000141349.8 . BCM GRCh38.p13 chr17 44070793 44070793 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000141349.8 ENST00000269097.8:c.-173C>T . . 17q21.31 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . G6PC3 33 0 21 32 0.60377358490566 TRUE NA +ENSG00000131943.18 . BCM GRCh38.p13 chr19 29701700 29701700 + T T G 3'Flank SNP NA NA NA NA downstream ENSG00000131943.18 dist=703 . . 19q12 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf12 116 0 89 46 0.340740740740741 TRUE NA +ENSG00000149256.16 . BCM GRCh38.p13 chr11 78670516 78670517 + AT AT TC Unknown MNP ENST00000278550.12 exon32 c.5828_5829delinsGA p.Y1943_R2769del exonic ENSG00000149256.16 . stopgain ENSG00000149256.16:ENST00000278550.12:exon32:c.5828_5829delinsGA:p.Y1943_R2769del 11q14.1 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM4 80 17 27 18 0.4 TRUE TRUE +ENSG00000111335.13 . BCM GRCh38.p13 chr12 112995308 112995309 + AT AT CA Unknown MNP ENST00000342315.8 exon3 c.461_462delinsCA p.N154T exonic ENSG00000111335.13 . nonframeshift substitution ENSG00000111335.13:ENST00000342315.8:exon3:c.461_462delinsCA:p.N154T 12q24.13 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OAS2 108 21 102 21 0.170731707317073 TRUE TRUE +ENSG00000166377.20 . BCM GRCh38.p13 chr18 79307179 79307180 + CT CT GA Unknown MNP ENST00000426216.6 exon15 c.1718_1719delinsGA p.A573G exonic ENSG00000166377.20 . nonframeshift substitution ENSG00000166377.20:ENST00000426216.6:exon15:c.1718_1719delinsGA:p.A573G 18q23 C3N-00242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP9B 337 149 222 148 0.4 TRUE NA +ENSG00000162591.16 . BCM GRCh38.p13 chr1 3501913 3501913 + C C A Missense_Mutation SNP ENST00000356575.9 exon18 c.G2197T p.V733L exonic ENSG00000162591.16 . nonsynonymous SNV ENSG00000162591.16:ENST00000356575.9:exon18:c.G2197T:p.V733L 1p36.32 C3N-00244 . . . . . . . . . 0.20 T T B B U N N T N 0.209 T T T 0.066 0.213 0.251 0.109 T T T T T T 1.174 13.420 0.860 N N -1.231 0.206 -1.194 0.288 0.999 0.635 0.551 0.269 0.646 . 3.580 1.460 1.603 -0.388 -0.202 0.002 0.000 0.002 982 Laminin_EGF_domain . . . MEGF6 119 0 95 32 0.251968503937008 TRUE TRUE +ENSG00000127481.15 . BCM GRCh38.p13 chr1 19128288 19128288 + C C T Missense_Mutation SNP ENST00000375254.8 exon62 c.G9034A p.G3012R exonic ENSG00000127481.15 . nonsynonymous SNV ENSG00000127481.15:ENST00000375254.8:exon62:c.G9034A:p.G3012R 1p36.13 C3N-00244 . . . . . . . . . 15.19 D . D D D D L T D 0.812 T T D 0.526 0.429 0.194 1.875 D D D D D D 4.301 29.600 0.999 D D 0.875 10.424 0.866 12.355 1.000 0.707 0.725 0.725 0.714 . 5.800 5.800 7.508 1.026 0.599 1.000 0.999 0.993 906 . . . . UBR4 149 1 108 37 0.255172413793103 TRUE TRUE +ENSG00000142949.17 . BCM GRCh38.p13 chr1 43591277 43591277 + C C T Missense_Mutation SNP ENST00000359947.9 exon9 c.C1255T p.R419C exonic ENSG00000142949.17 . nonsynonymous SNV ENSG00000142949.17:ENST00000359947.9:exon9:c.C1255T:p.R419C 1p34.2 C3N-00244 . . . . . . . . . 10.20 D T D D N D M T D 0.451 T T D 0.149 0.456 0.549 1.662 T T T T D D 4.056 27.400 0.999 D N 0.558 5.522 0.554 5.692 1.000 0.707 0.634 0.723 0.714 . 5.480 4.510 1.725 1.026 0.599 0.972 0.969 0.995 652 Fibronectin_type_III . . . PTPRF 101 0 89 30 0.252100840336134 TRUE NA +ENSG00000116830.12 . BCM GRCh38.p13 chr1 117086515 117086515 + A A G Missense_Mutation SNP ENST00000369466.9 exon12 c.A2153G p.N718S exonic ENSG00000116830.12 . nonsynonymous SNV ENSG00000116830.12:ENST00000369466.9:exon12:c.A2153G:p.N718S 1p13.1 C3N-00244 . . . . . . . . rs916798539 1.20 T T B B N N N D N 0.079 T T T 0.150 0.450 0.572 0.143 T T T T T T 0.754 8.946 0.470 N N -1.221 0.212 -0.999 0.490 0.042 0.745 0.702 0.732 0.714 . 5.270 2.330 1.483 -0.194 -0.227 0.071 0.985 0.994 895 Helicase_superfamily_1/2,_ATP-binding_domain;SNF2-related,_N-terminal_domain . . . TTF2 89 0 82 6 0.0681818181818182 TRUE NA +ENSG00000198400.11 . BCM GRCh38.p13 chr1 156876143 156876143 + G G A Missense_Mutation SNP ENST00000524377.5 exon13 c.G1565A p.G522E exonic ENSG00000198400.11 . nonsynonymous SNV ENSG00000198400.11:ENST00000524377.5:exon13:c.G1565A:p.G522E 1q23.1 C3N-00244 . . . . . . . . . 20.20 D D D D D D H D D 0.994 D D D 0.967 0.940 0.979 1.014 D D D D D D 4.292 29.500 0.998 D D 1.079 16.629 0.969 17.043 1.000 0.598 0.563 0.596 0.621 . 5.030 5.030 10.003 1.176 0.676 1.000 1.000 1.000 560 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain;Protein_kinase,_ATP_binding_site . . . NTRK1 398 1 310 55 0.150684931506849 TRUE TRUE +ENSG00000058673.16 . BCM GRCh38.p13 chr1 203833844 203833844 + T T A Missense_Mutation SNP ENST00000639812.1 exon10 c.T865A p.F289I exonic ENSG00000058673.16 . nonsynonymous SNV ENSG00000058673.16:ENST00000639812.1:exon10:c.T865A:p.F289I 1q32.1 C3N-00244 . . . . . . . . . 0.20 T T B B N N L T N 0.164 T T T 0.060 0.209 0.068 0.161 T T T T T T 1.116 12.920 0.933 N N -0.750 0.731 -0.715 0.878 0.004 0.732 0.744 0.744 0.714 . 5.680 -2.220 -1.198 0.187 0.645 0.016 0.999 0.990 533 . . . . ZC3H11A 93 0 49 27 0.355263157894737 TRUE TRUE +ENSG00000187605.15 . BCM GRCh38.p13 chr2 74088016 74088016 + C C T Missense_Mutation SNP ENST00000409262.7 exon6 c.C2866T p.R956W exonic ENSG00000187605.15 . nonsynonymous SNV ENSG00000187605.15:ENST00000409262.7:exon6:c.C2866T:p.R956W 2p13.1 C3N-00244 . . . . . . . . . 11.13 . D . . D D . . . 0.838 T T D 0.432 . 0.185 2.635 D . D D D D 4.009 27.000 0.999 D D 0.570 5.632 0.476 4.945 0.999 0.672 0.702 0.609 0.636 . 4.900 2.990 3.981 1.026 0.599 1.000 1.000 0.998 607 . . . . TET3 125 0 46 86 0.651515151515151 TRUE NA +ENSG00000169994.18 . BCM GRCh38.p13 chr2 127636247 127636247 + G G T Missense_Mutation SNP ENST00000428314.5 exon44 c.G5968T p.V1990L exonic ENSG00000169994.18 . nonsynonymous SNV ENSG00000169994.18:ENST00000428314.5:exon44:c.G5968T:p.V1990L 2q14.3 C3N-00244 . . . . . . . . . 10.20 T T D D N D M T N 0.235 D D D 0.387 0.494 0.602 0.291 T T T T D T 2.579 22.600 0.992 D D 0.125 2.985 0.001 2.364 1.000 0.657 0.695 0.578 0.664 . 5.660 4.770 2.554 1.079 0.671 0.837 0.975 0.989 946 0.000 . . . MYO7B 86 0 61 4 0.0615384615384615 TRUE NA +ENSG00000115419.13 . BCM GRCh38.p13 chr2 190930548 190930548 + A A G Missense_Mutation SNP ENST00000320717.8 exon13 c.A1537G p.K513E exonic ENSG00000115419.13 . nonsynonymous SNV ENSG00000115419.13:ENST00000320717.8:exon13:c.A1537G:p.K513E 2q32.2 C3N-00244 . . . . . . . . . 11.20 D D D P D D L T N 0.690 T T D 0.247 0.534 0.587 3.080 D T T T D D 4.011 27.100 0.998 D D 0.608 6.005 0.633 6.666 1.000 0.706 0.725 0.710 0.714 . 5.840 5.840 4.675 1.312 0.691 1.000 0.998 0.997 530 . . . . GLS 168 0 51 72 0.585365853658537 TRUE TRUE +ENSG00000144406.19 . BCM GRCh38.p13 chr2 209926941 209926941 + G G T Missense_Mutation SNP ENST00000439458.5 exon35 c.G5563T p.V1855F exonic ENSG00000144406.19 . nonsynonymous SNV ENSG00000144406.19:ENST00000439458.5:exon35:c.G5563T:p.V1855F 2q34 C3N-00244 . . . . . . . . . 14.20 D D D D D D L T D 0.948 T T T 0.519 0.389 0.571 1.225 D T D D D D 4.243 29.100 0.996 D D 0.814 9.067 0.840 11.430 1.000 0.554 0.574 0.618 0.564 . 5.670 5.670 9.602 1.176 0.676 1.000 1.000 0.998 814 . . . . UNC80 178 0 133 15 0.101351351351351 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142125 10142125 + G G T Missense_Mutation SNP ENST00000256474.3 exon1 c.G278T p.G93V exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.G278T:p.G93V 3p25.3 C3N-00244 . . . . . . . . . 20.20 D D D D D D M D D 0.910 D D D 0.952 0.964 0.999 1.206 D D D D D D 4.333 29.900 0.997 D D 0.794 8.666 0.742 8.623 1.000 0.442 0.522 0.522 0.373 . 5.160 5.160 5.466 1.002 0.586 1.000 0.998 0.998 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56548602;OCCURENCE=3(kidney) VHL 349 2 112 93 0.453658536585366 TRUE TRUE +ENSG00000168028.14 . BCM GRCh38.p13 chr3 39411945 39411945 + A A G Missense_Mutation SNP ENST00000301821.11 exon6 c.A677G p.E226G exonic ENSG00000168028.14 . nonsynonymous SNV ENSG00000168028.14:ENST00000301821.11:exon6:c.A677G:p.E226G 3p22.1 C3N-00244 . . . . . . . . . 8.20 T T B B U D M T D 0.549 T T D 0.261 0.267 0.630 1.884 T T D T D T 3.315 24.200 0.999 D D 0.092 2.857 0.221 3.287 1.000 0.646 0.696 0.696 0.711 . 4.560 4.560 8.697 1.269 0.751 1.000 0.997 0.983 779 40S_ribosomal_protein_SA,_C-terminal_domain . . . RPSA 419 0 254 52 0.169934640522876 NA TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52603653 52603653 + C C A Nonsense_Mutation SNP ENST00000296302.11 exon17 c.G2647T p.G883X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon17:c.G2647T:p.G883X 3p21.1 C3N-00244 . . . . . . . . . 5.6 . . . . D A . . . 0.963 . . . . . . . . . D D . . 7.710 39 0.992 D N 1.231 26.855 1.097 26.738 1.000 0.732 0.744 0.659 0.728 . 5.720 5.720 7.814 1.026 0.599 1.000 1.000 1.000 27 . . . ID=COSV56298440;OCCURENCE=1(kidney) PBRM1 286 0 110 55 0.333333333333333 TRUE TRUE +ENSG00000174227.16 . BCM GRCh38.p13 chr4 515990 515990 + A A G Missense_Mutation SNP ENST00000453061.7 exon6 c.A919G p.K307E exonic ENSG00000174227.16 . nonsynonymous SNV ENSG00000174227.16:ENST00000453061.7:exon6:c.A919G:p.K307E 4p16.3 C3N-00244 . . . . . . . . . 0.20 T T B B N N N T N 0.069 T T T 0.015 0.366 0.122 0.234 T T T T T T 0.394 5.357 0.246 N N -1.162 0.255 -1.123 0.353 0.037 0.707 0.702 0.698 0.714 . 5.450 0.098 0.697 1.312 0.756 0.005 0.250 0.427 769 GPI_ethanolamine_phosphate_transferase_2,_N-terminal . . . PIGG 241 0 168 68 0.288135593220339 TRUE TRUE +ENSG00000196526.10 . BCM GRCh38.p13 chr4 7855508 7855508 + C C T Missense_Mutation SNP ENST00000358461.6 exon4 c.G292A p.V98M exonic ENSG00000196526.10 . nonsynonymous SNV ENSG00000196526.10:ENST00000358461.6:exon4:c.G292A:p.V98M 4p16.1 C3N-00244 . . . . . . . . . 11.20 D T D D D D M T N 0.736 T T T 0.167 0.116 0.424 0.454 D T T T D D 3.656 25.200 0.999 D D 0.638 6.338 0.620 6.477 1.000 0.722 0.590 0.676 0.735 . 4.790 4.790 5.349 1.026 0.599 1.000 0.971 0.940 976 . . . . AFAP1 111 0 73 36 0.330275229357798 TRUE TRUE +ENSG00000150471.16 . BCM GRCh38.p13 chr4 61946968 61946968 + C C T Missense_Mutation SNP ENST00000506720.5 exon14 c.C2474T p.T825M exonic ENSG00000150471.16 . nonsynonymous SNV ENSG00000150471.16:ENST00000506720.5:exon14:c.C2474T:p.T825M 4q13.1 C3N-00244 . . . . . . . . rs746668174 14.19 D D D D D D . T D 0.862 T T D 0.534 0.455 0.123 1.000 D T D T D D 3.784 25.800 0.999 D D 0.824 9.276 0.813 10.524 1.000 0.615 0.574 0.659 0.564 . 5.510 5.510 7.905 1.026 0.599 1.000 1.000 0.998 933 GAIN_domain,_N-terminal . . ID=COSV72229218;OCCURENCE=1(ovary),1(upper_aerodigestive_tract) ADGRL3 273 1 165 68 0.291845493562232 TRUE TRUE +ENSG00000145743.17 . BCM GRCh38.p13 chr5 108348527 108348527 + C C T Missense_Mutation SNP ENST00000542267.7 exon4 c.G1378A p.G460S exonic ENSG00000145743.17 . nonsynonymous SNV ENSG00000145743.17:ENST00000542267.7:exon4:c.G1378A:p.G460S 5q21.3 C3N-00244 . . . . . . . . . 10.20 T D D D D D N T N 0.801 T T D 0.312 0.308 0.227 1.360 T T T T D D 2.574 22.600 0.997 D D 0.316 3.863 0.467 4.872 1.000 0.638 0.670 0.618 0.668 . 5.750 5.750 7.537 1.026 0.599 1.000 1.000 0.998 863 . . . . FBXL17 85 0 80 29 0.26605504587156 TRUE TRUE +ENSG00000173250.2 . BCM GRCh38.p13 chr5 146515246 146515246 + G G T Missense_Mutation SNP ENST00000311104.2 exon1 c.C868A p.L290M exonic ENSG00000173250.2 . nonsynonymous SNV ENSG00000173250.2:ENST00000311104.2:exon1:c.C868A:p.L290M 5q32 C3N-00244 . . . . . . . . . 6.20 T D D P D N M T N 0.379 T T T 0.287 0.483 0.675 0.228 T T T T D T 2.699 22.800 0.995 D N 0.357 4.090 0.331 3.901 0.005 0.680 0.514 0.601 0.646 . 6.170 2.160 1.318 0.224 0.676 1.000 1.000 0.995 920 GPCR,_rhodopsin-like,_7TM . . . GPR151 170 0 129 43 0.25 TRUE TRUE +ENSG00000164330.17 . BCM GRCh38.p13 chr5 159097116 159097116 + G G A Missense_Mutation SNP ENST00000313708.11 exon2 c.C149T p.A50V exonic ENSG00000164330.17 . nonsynonymous SNV ENSG00000164330.17:ENST00000313708.11:exon2:c.C149T:p.A50V 5q33.3 C3N-00244 8.861e-06 0 0 0.0001 0 0 0 0 rs560006074 10.20 T T D P D D L T N 0.654 T T T 0.452 0.397 0.626 1.298 D D T D D D 3.485 24.700 0.999 D D 0.623 6.169 0.693 7.630 1.000 0.405 0.517 0.294 0.530 . 5.600 5.600 9.945 1.176 0.676 1.000 1.000 1.000 949 Transcription_factor_COE,_DNA-binding_domain . . . EBF1 101 0 67 52 0.436974789915966 TRUE NA +ENSG00000219607.4 . BCM GRCh38.p13 chr6 5085964 5085964 + T T A Missense_Mutation SNP ENST00000405617.4 exon1 c.T479A p.V160E exonic ENSG00000219607.4 . nonsynonymous SNV ENSG00000219607.4:ENST00000405617.4:exon1:c.T479A:p.V160E 6p25.1 C3N-00244 . . . . . . . . . 6.19 D D P B . N L T D 0.280 T T D 0.228 0.633 0.151 . T T T T D T 2.844 23.100 0.980 D N -0.316 1.575 -0.441 1.301 1.000 0.455 0.609 0.504 0.604 . 4.350 0.244 0.447 0.965 0.576 0.554 0.489 0.735 976 . . . . PPP1R3G 164 1 51 45 0.46875 TRUE TRUE +ENSG00000118492.17 . BCM GRCh38.p13 chr6 146784736 146784736 + A A C Missense_Mutation SNP ENST00000397944.8 exon31 c.A4154C p.D1385A exonic ENSG00000118492.17 . nonsynonymous SNV ENSG00000118492.17:ENST00000397944.8:exon31:c.A4154C:p.D1385A 6q24.3 C3N-00244 . . . . . . . . . 14.19 D D D D . D M T D 0.719 T T D 0.463 0.418 0.368 . T T D D D D 4.079 27.600 0.996 D D 0.707 7.222 0.720 8.138 1.000 0.487 0.574 0.574 0.542 . 5.680 5.680 7.743 1.312 0.756 1.000 1.000 0.987 707 . . . . ADGB 98 0 25 28 0.528301886792453 TRUE TRUE +ENSG00000234444.10 . BCM GRCh38.p13 chr7 64349010 64349010 + G G T Missense_Mutation SNP ENST00000423484.3 exon4 c.G1147T p.D383Y exonic ENSG00000234444.10 . nonsynonymous SNV ENSG00000234444.10:ENST00000423484.3:exon4:c.G1147T:p.D383Y 7q11.21 C3N-00244 . . . . . . . . . 0.19 T T B B . N N T N 0.144 T T T 0.017 0.363 0.110 0.047 T T T T T T 0.641 7.905 0.560 N N -1.731 0.032 -1.826 0.030 0.001 0.707 0.725 0.574 0.621 . 1.160 -2.320 -1.490 -0.161 0.373 0.000 0.948 0.912 840 Zinc_finger_C2H2-type . . . ZNF736 165 0 105 36 0.25531914893617 NA TRUE +ENSG00000127980.16 . BCM GRCh38.p13 chr7 92504867 92504867 + C C A Missense_Mutation SNP ENST00000248633.9 exon12 c.G1936T p.V646L exonic ENSG00000127980.16 . nonsynonymous SNV ENSG00000127980.16:ENST00000248633.9:exon12:c.G1936T:p.V646L 7q21.2 C3N-00244 . . . . . . . . . 3.20 T T B B N N N D N 0.042 T D D 0.139 0.435 0.536 0.155 T T T T T T 0.322 4.542 0.648 N N -1.183 0.239 -1.211 0.274 0.944 0.737 0.634 0.733 0.636 . 5.350 -1.330 0.392 -2.144 -0.954 0.057 0.016 0.031 798 ATPase,_AAA-type,_core;AAA+_ATPase_domain . . . PEX1 297 1 188 82 0.303703703703704 TRUE TRUE +ENSG00000221866.9 . BCM GRCh38.p13 chr7 132146661 132146661 + C C T Missense_Mutation SNP ENST00000359827.7 exon28 c.G4904A p.R1635H exonic ENSG00000221866.9 . nonsynonymous SNV ENSG00000221866.9:ENST00000359827.7:exon28:c.G4904A:p.R1635H 7q32.3 C3N-00244 . . . . . . . . . 10.20 T D P P D D M T D 0.875 T T T 0.282 0.537 0.569 0.891 D T T T D D 4.045 27.300 0.999 D D 0.601 5.931 0.671 7.241 1.000 0.563 0.563 0.602 0.636 . 5.800 5.800 7.799 0.966 0.530 1.000 0.998 0.997 916 Plexin,_cytoplasmic_RasGAP_domain . . ID=COSV58137527;OCCURENCE=1(large_intestine),1(stomach),1(endometrium) PLXNA4 247 1 169 80 0.321285140562249 TRUE TRUE +ENSG00000184863.11 . BCM GRCh38.p13 chr7 155737639 155737639 + A A G Missense_Mutation SNP ENST00000401878.8 exon10 c.A1370G p.D457G exonic ENSG00000184863.11 . nonsynonymous SNV ENSG00000184863.11:ENST00000401878.8:exon10:c.A1370G:p.D457G 7q36.3 C3N-00244 . . . . . . . . . 5.19 D T P B . D N T N 0.310 T T T 0.100 0.245 0.228 0.366 T T T T D T 3.674 25.300 0.996 D D 0.305 3.803 0.435 4.618 1.000 0.707 0.725 0.723 0.714 . 5.770 5.770 7.715 1.312 0.691 1.000 0.964 0.976 994 . . . . RBM33 37 1 22 10 0.3125 TRUE NA +ENSG00000213563.7 . BCM GRCh38.p13 chr8 144527376 144527376 + A A T Missense_Mutation SNP ENST00000524821.6 exon3 c.T617A p.L206Q exonic ENSG00000213563.7 . nonsynonymous SNV ENSG00000213563.7:ENST00000524821.6:exon3:c.T617A:p.L206Q 8q24.3 C3N-00244 . . . . . . . . . 9.17 D D D D U D M . N 0.778 T T D 0.302 0.437 0.177 0.934 . T T T T . 4.003 27.000 0.863 D D 0.001 2.514 -0.167 1.867 1.000 0.660 0.694 0.641 0.568 . 3.440 2.260 4.638 1.207 0.747 0.992 0.991 0.743 885 . . . . C8orf82 14 0 16 3 0.157894736842105 TRUE NA +ENSG00000187866.10 . BCM GRCh38.p13 chr9 68780621 68780621 + G G A Missense_Mutation SNP ENST00000394264.7 exon1 c.G457A p.G153R exonic ENSG00000187866.10 . nonsynonymous SNV ENSG00000187866.10:ENST00000394264.7:exon1:c.G457A:p.G153R 9q21.11 C3N-00244 . . . . . . . . . 9.12 . . . . D D . . . . T T T 0.653 . 0.213 1.838 D . D D D D 4.231 29.000 0.999 D D 0.745 7.794 0.685 7.476 1.000 0.442 0.522 0.522 0.562 . 4.420 4.420 4.349 1.176 0.676 1.000 1.000 0.998 988 . . . . FAM122A 257 0 192 78 0.288888888888889 TRUE TRUE +ENSG00000165752.17 . BCM GRCh38.p13 chr10 132224415 132224415 + G G T Missense_Mutation SNP ENST00000298630.8 exon8 c.C985A p.L329M exonic ENSG00000165752.17 . nonsynonymous SNV ENSG00000165752.17:ENST00000298630.8:exon8:c.C985A:p.L329M 10q26.3 C3N-00244 . . . . . . . . . 10.20 D D D D D D L T N 0.500 T T D 0.503 . 0.514 0.747 T T T T D D 3.311 24.200 0.993 D N 0.076 2.794 0.025 2.448 0.952 0.696 0.588 0.723 0.700 . 3.990 3.080 0.452 0.143 -0.113 0.903 0.998 0.977 992 Protein_kinase_domain . . . STK32C 120 0 88 36 0.290322580645161 TRUE TRUE +ENSG00000165494.11 . BCM GRCh38.p13 chr11 83166666 83166666 + G G A Missense_Mutation SNP ENST00000298281.8 exon5 c.G1769A p.S590N exonic ENSG00000165494.11 . nonsynonymous SNV ENSG00000165494.11:ENST00000298281.8:exon5:c.G1769A:p.S590N 11q14.1 C3N-00244 . . . . . . . . . 2.20 T T B B D N L T N 0.339 T T T 0.027 0.155 0.247 0.165 T T T T T T 1.503 15.760 0.849 D N -0.212 1.842 -0.011 2.321 1.000 0.707 0.702 0.725 0.711 . 6.070 4.180 3.670 1.176 0.676 1.000 1.000 0.999 366 . . . ID=COSV100017804;OCCURENCE=1(kidney) PCF11 68 0 56 42 0.428571428571429 TRUE TRUE +ENSG00000109971.14 . BCM GRCh38.p13 chr11 123059481 123059481 + T T C Missense_Mutation SNP ENST00000534624.6 exon5 c.A1112G p.Y371C exonic ENSG00000109971.14 . nonsynonymous SNV ENSG00000109971.14:ENST00000534624.6:exon5:c.A1112G:p.Y371C 11q24.1 C3N-00244 . . . . . . . . . 15.20 D D D P D D M T D 0.856 T T D 0.590 0.649 0.537 . D T D D D D 4.028 27.200 0.998 D D 0.751 7.893 0.691 7.579 1.000 0.722 0.672 0.699 0.658 . 4.810 4.810 7.794 1.135 0.665 1.000 1.000 0.953 933 . . . . HSPA8 59 0 52 27 0.341772151898734 NA TRUE +ENSG00000080854.15 . BCM GRCh38.p13 chr11 133920416 133920416 + C C G Missense_Mutation SNP ENST00000321016.12 exon18 c.G3309C p.W1103C exonic ENSG00000080854.15 . nonsynonymous SNV ENSG00000080854.15:ENST00000321016.12:exon18:c.G3309C:p.W1103C 11q25 C3N-00244 . . . . . . . . . 11.20 D T D D D D L T N 0.693 T T D 0.291 0.357 0.043 0.422 T T D T D D 3.168 23.800 0.984 D D 0.361 4.111 0.373 4.171 1.000 0.701 0.588 0.717 0.563 . 5.150 5.150 3.369 1.026 0.599 1.000 0.879 0.638 911 . . . . IGSF9B 49 0 16 11 0.407407407407407 TRUE TRUE +ENSG00000065357.20 . BCM GRCh38.p13 chr12 55951751 55951751 + C C T Nonsense_Mutation SNP ENST00000331886.10 exon18 c.C1555T p.Q519X exonic ENSG00000065357.20 . stopgain ENSG00000065357.20:ENST00000331886.10:exon18:c.C1555T:p.Q519X 12q13.2 C3N-00244 . . . . . . . . . 4.6 . . . . D A . . . 0.765 . . . . . . . . . D D . . 7.491 38 0.996 N N 0.741 7.737 0.528 5.423 0.863 0.707 0.725 0.725 0.714 . 5.480 4.530 1.412 1.026 0.549 0.836 0.997 0.928 724 . . . ID=COSV59387808;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(skin) DGKA 73 0 68 23 0.252747252747253 TRUE TRUE +ENSG00000166866.13 . BCM GRCh38.p13 chr12 57047377 57047377 + G G A Missense_Mutation SNP ENST00000300119.8 exon5 c.C356T p.A119V exonic ENSG00000166866.13 . nonsynonymous SNV ENSG00000166866.13:ENST00000300119.8:exon5:c.C356T:p.A119V 12q13.3 C3N-00244 . . . . . . . . . 18.20 D T D D D D M D D 0.929 D D D 0.731 0.896 0.801 0.432 T D D D D D 3.652 25.200 0.999 D D 0.857 9.994 0.754 8.904 1.000 0.609 0.682 0.547 0.530 . 5.190 5.190 8.104 1.176 0.676 1.000 0.890 0.907 184 Class_I_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO1A 200 0 155 78 0.334763948497854 TRUE TRUE +ENSG00000111325.16 . BCM GRCh38.p13 chr12 122976892 122976892 + T T C Missense_Mutation SNP ENST00000228922.11 exon4 c.T325C p.F109L exonic ENSG00000111325.16 . nonsynonymous SNV ENSG00000111325.16:ENST00000228922.11:exon4:c.T325C:p.F109L 12q24.31 C3N-00244 1.701e-05 0.0002 0 0 0 0 0 0 rs373328961 10.20 T D B B N D M D D 0.517 T D D 0.461 . 0.658 0.047 T T T T D T 2.262 21.300 0.998 D D -0.084 2.224 0.016 2.416 1.000 0.707 0.663 0.693 0.714 . 5.400 5.400 5.325 1.138 0.665 1.000 0.281 0.063 241 . . . . OGFOD2 73 0 65 33 0.336734693877551 TRUE NA +ENSG00000204583.10 . BCM GRCh38.p13 chr12 132604535 132604535 + C C T Missense_Mutation SNP ENST00000376608.9 exon4 c.G281A p.C94Y exonic ENSG00000204583.10 . nonsynonymous SNV ENSG00000204583.10:ENST00000376608.9:exon4:c.G281A:p.C94Y 12q24.33 C3N-00244 . . . . . . . . . 5.8 . D . . . . M . . 0.525 . . . . . 0.207 . T T D D . T 2.501 22.400 0.781 D . . . . . 1.000 0.114 0.060 0.081 0.166 0.904 3.200 3.200 0.663 0.834 0.514 0.065 0.052 0.012 779 . . . . LRCOL1 101 0 63 42 0.4 TRUE TRUE +ENSG00000151835.16 . BCM GRCh38.p13 chr13 23334592 23334592 + G G - Frame_Shift_Del DEL ENST00000382292.9 exon10 c.9284delC p.P3095Lfs*8 exonic ENSG00000151835.16 . frameshift deletion ENSG00000151835.16:ENST00000382292.9:exon10:c.9284delC:p.P3095Lfs*8 13q12.12 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SACS 281 0 164 82 0.333333333333333 TRUE NA +ENSG00000150893.11 . BCM GRCh38.p13 chr13 38864523 38864523 + G G T Missense_Mutation SNP ENST00000280481.9 exon16 c.G7900T p.A2634S exonic ENSG00000150893.11 . nonsynonymous SNV ENSG00000150893.11:ENST00000280481.9:exon16:c.G7900T:p.A2634S 13q13.3 C3N-00244 8.237e-06 0 0 0 0 0 0 6.057e-05 rs750989546 5.15 T T . . D D . T N 0.429 T T T 0.153 0.323 0.444 0.331 T . T T D . 2.398 22.100 0.997 D D 0.631 6.252 0.647 6.871 1.000 0.706 0.588 0.710 0.564 . 5.180 5.180 7.956 1.176 0.676 1.000 0.941 0.864 934 . . . . FREM2 212 0 140 64 0.313725490196078 TRUE NA +ENSG00000100888.14 . BCM GRCh38.p13 chr14 21385618 21385618 + C C T Missense_Mutation SNP ENST00000646647.2 exon38 c.G7741A p.D2581N exonic ENSG00000100888.14 . nonsynonymous SNV ENSG00000100888.14:ENST00000646647.2:exon38:c.G7741A:p.D2581N 14q11.2 C3N-00244 . . . . . . . . . 10.20 D D B B D D N D N 0.376 T D D 0.270 0.213 0.414 0.624 T T T T D D 2.986 23.400 0.999 D N -0.105 2.159 0.115 2.795 1.000 0.722 0.602 0.699 0.714 . 5.260 5.260 2.904 1.018 0.592 1.000 1.000 1.000 940 . . . . CHD8 54 0 37 19 0.339285714285714 TRUE TRUE +ENSG00000180008.9 . BCM GRCh38.p13 chr14 55044195 55044195 + T T C Missense_Mutation SNP ENST00000555846.2 exon3 c.T1154C p.F385S exonic ENSG00000180008.9 . nonsynonymous SNV ENSG00000180008.9:ENST00000555846.2:exon3:c.T1154C:p.F385S 14q22.3 C3N-00244 . . . . . . . . . 8.20 D T P B D D M T N 0.269 T T T 0.094 0.523 0.678 0.768 D T T T D D 3.320 24.200 0.998 D N 0.252 3.540 0.350 4.019 0.967 0.707 0.725 0.702 0.714 . 5.930 4.790 2.550 1.138 0.665 1.000 0.998 0.991 823 SOCS_box_domain;SOCS4,_SOCS_box_domain . . . SOCS4 285 0 184 83 0.310861423220974 TRUE TRUE +ENSG00000168781.22 . BCM GRCh38.p13 chr15 43581388 43581388 + C C A Missense_Mutation SNP ENST00000420765.5 exon9 c.G778T p.V260L exonic ENSG00000168781.22 . nonsynonymous SNV ENSG00000168781.22:ENST00000420765.5:exon9:c.G778T:p.V260L 15q15.3 C3N-00244 . . . . . . . . . 16.20 D D D D D D M T D 0.784 T T D 0.431 0.222 0.674 3.080 D T D D D D 5.401 34 0.997 D D 0.914 11.408 0.841 11.446 1.000 0.638 0.670 0.653 0.668 . 4.930 4.930 7.703 1.025 0.593 1.000 0.999 0.998 16 . . . . PPIP5K1 249 0 143 59 0.292079207920792 NA TRUE +ENSG00000242173.10 . BCM GRCh38.p13 chr16 281907 281908 + CC CC - Frame_Shift_Del DEL ENST00000219409.8 exon2 c.235_236del p.L80Afs*50 exonic ENSG00000242173.10 . frameshift deletion ENSG00000242173.10:ENST00000219409.8:exon2:c.235_236del:p.L80Afs*50 16p13.3 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGDIG 78 0 40 27 0.402985074626866 TRUE TRUE +ENSG00000138834.13 . BCM GRCh38.p13 chr16 1765149 1765149 + C C T Missense_Mutation SNP ENST00000250894.8 exon20 c.C2414T p.A805V exonic ENSG00000138834.13 . nonsynonymous SNV ENSG00000138834.13:ENST00000250894.8:exon20:c.C2414T:p.A805V 16p13.3 C3N-00244 2.584e-05 0 0 0 0 3.133e-05 0 6.273e-05 rs773493436 17.20 D D D D D D M T D 0.928 T T D 0.263 . 0.482 0.618 D D D D D D 3.319 24.200 0.999 D D 0.433 4.557 0.411 4.440 1.000 0.707 0.702 0.571 0.714 . 5.230 5.230 7.457 0.947 0.599 1.000 0.087 0.012 557 . . . ID=COSV51717902;OCCURENCE=3(large_intestine) MAPK8IP3 93 0 56 28 0.333333333333333 TRUE TRUE +ENSG00000052344.16 . BCM GRCh38.p13 chr16 31132050 31132050 + G G T Missense_Mutation SNP ENST00000317508.11 exon6 c.C991A p.L331M exonic ENSG00000052344.16 . nonsynonymous SNV ENSG00000052344.16:ENST00000317508.11:exon6:c.C991A:p.L331M 16p11.2 C3N-00244 . . . . . . . . . 9.20 D T D D N N L D N 0.380 T D D 0.268 0.387 0.845 0.358 T T D T D T 2.745 22.900 0.955 D N -0.231 1.790 -0.346 1.473 1.000 0.722 0.514 0.699 0.728 . 5.470 2.300 1.060 0.203 -0.244 0.666 0.077 0.254 58 . . . . PRSS8 79 0 69 23 0.25 TRUE TRUE +ENSG00000167207.13 . BCM GRCh38.p13 chr16 50711994 50711994 + A A G Missense_Mutation SNP ENST00000300589.6 exon4 c.A2083G p.T695A exonic ENSG00000167207.13 . nonsynonymous SNV ENSG00000167207.13:ENST00000300589.6:exon4:c.A2083G:p.T695A 16q12.1 C3N-00244 . . . . . . . . . 0.20 T T B B N N N T N 0.014 T T T 0.092 0.315 0.603 0.092 T T T T T T 0.070 1.840 0.669 N N -1.056 0.347 -0.817 0.734 1.000 0.672 0.702 0.602 0.564 . 5.740 3.740 0.920 -0.159 -0.121 0.837 0.070 0.033 697 . . . . NOD2 109 0 137 66 0.32512315270936 TRUE TRUE +ENSG00000277481.1 . BCM GRCh38.p13 chr16 71947559 71947559 + C C A Missense_Mutation SNP ENST00000620267.1 exon22 c.G3651T p.M1217I exonic ENSG00000277481.1 . nonsynonymous SNV ENSG00000277481.1:ENST00000620267.1:exon22:c.G3651T:p.M1217I 16q22.2 C3N-00244 . . . . . . . . . 1.9 . D B B . . . . . 0.154 . . . . . 0.081 . T T T T . T 0.384 5.253 0.540 N . . . . . 0.925 0.054 0.061 0.060 0.059 0.095 4.640 -0.096 0.014 0.938 0.539 0.013 0.003 0.008 78 . . . . PKD1L3 177 0 106 28 0.208955223880597 TRUE TRUE +ENSG00000132591.12 . BCM GRCh38.p13 chr17 28856517 28856517 + T T C Missense_Mutation SNP ENST00000254928.10 exon3 c.T424C p.S142P exonic ENSG00000132591.12 . nonsynonymous SNV ENSG00000132591.12:ENST00000254928.10:exon3:c.T424C:p.S142P 17q11.2 C3N-00244 8.24e-06 0 0 0 0 1.499e-05 0 0 rs772772053 18.20 D D D D D D M D D 0.919 D D D 0.946 0.699 0.993 0.946 T T D D D D 4.242 29.100 0.962 D D 0.933 11.924 0.845 11.606 1.000 0.732 0.581 0.744 0.714 . 5.520 5.520 7.109 1.122 0.660 1.000 0.997 0.992 162 Small_GTP-binding_protein_domain;Era-type_guanine_nucleotide-binding_(G)_domain;GTP_binding_domain . . . ERAL1 85 0 64 42 0.39622641509434 TRUE NA +ENSG00000109062.12 . BCM GRCh38.p13 chr17 74766960 74766960 + A A G Missense_Mutation SNP ENST00000262613.10 exon4 c.A782G p.N261S exonic ENSG00000109062.12 . nonsynonymous SNV ENSG00000109062.12:ENST00000262613.10:exon4:c.A782G:p.N261S 17q25.1 C3N-00244 . . . . . . . . rs754888522 7.20 D T B B N D L T D 0.585 T T T 0.065 0.264 0.348 0.310 T D T T D T 2.735 22.900 0.997 D D 0.087 2.834 0.220 3.282 1.000 0.737 0.644 0.733 0.613 . 4.950 4.950 6.134 1.312 0.756 1.000 1.000 0.993 711 EBP50,_C-terminal . . ID=COSV52854828;OCCURENCE=1(endometrium) SLC9A3R1 333 0 194 91 0.319298245614035 TRUE TRUE +ENSG00000206073.11 . BCM GRCh38.p13 chr18 63641764 63641764 + A A - Frame_Shift_Del DEL ENST00000341074.10 exon4 c.347delT p.L116Yfs*5 exonic ENSG00000206073.11 . frameshift deletion ENSG00000206073.11:ENST00000341074.10:exon4:c.347delT:p.L116Yfs*5 18q21.33 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINB4 252 0 170 80 0.32 NA TRUE +ENSG00000197857.14 . BCM GRCh38.p13 chr19 12273932 12273932 + T T G Missense_Mutation SNP ENST00000356109.10 exon5 c.A467C p.N156T exonic ENSG00000197857.14 . nonsynonymous SNV ENSG00000197857.14:ENST00000356109.10:exon5:c.A467C:p.N156T 19p13.2 C3N-00244 . . . . . . . . . 0.18 T T B B . . N T N 0.097 T T T 0.025 0.621 0.102 0.063 T T T T T T 0.637 7.869 0.816 N N -1.008 0.396 -1.076 0.401 0.002 0.707 0.725 0.659 0.636 . 1.280 0.182 -0.620 -0.246 0.359 0.000 0.012 0.890 923 . . . . ZNF44 235 0 142 50 0.260416666666667 TRUE TRUE +ENSG00000008441.16 . BCM GRCh38.p13 chr19 13075546 13075546 + G G A Missense_Mutation SNP ENST00000592199.5 exon6 c.G830A p.R277H exonic ENSG00000008441.16 . nonsynonymous SNV ENSG00000008441.16:ENST00000592199.5:exon6:c.G830A:p.R277H 19p13.13 C3N-00244 . . . . . . . . . 14.20 D D D D D D M T N 0.543 T T D 0.335 0.600 0.681 2.782 T T D D D D 4.520 32 0.999 D D 0.794 8.664 0.758 8.986 1.000 0.707 0.627 0.563 0.714 . 4.690 4.690 8.862 1.176 0.676 1.000 1.000 1.000 759 . . . ID=COSV62175646;OCCURENCE=2(liver),1(endometrium) NFIX 88 0 46 25 0.352112676056338 TRUE TRUE +ENSG00000131069.20 . BCM GRCh38.p13 chr20 34921364 34921364 + G G T Missense_Mutation SNP ENST00000360596.7 exon11 c.G1312T p.V438L exonic ENSG00000131069.20 . nonsynonymous SNV ENSG00000131069.20:ENST00000360596.7:exon11:c.G1312T:p.V438L 20q11.22 C3N-00244 . . . . . . . . . 16.20 D D D D D D H T D 0.904 D T D 0.570 0.953 0.822 0.739 T T D D D D 4.081 27.600 0.998 D D 1.114 18.146 1.036 21.232 1.000 0.706 0.805 0.710 0.714 . 5.520 5.520 9.886 1.176 0.676 1.000 1.000 1.000 . AMP-dependent_synthetase/ligase . . . ACSS2 181 0 123 56 0.312849162011173 TRUE TRUE +ENSG00000160299.17 . BCM GRCh38.p13 chr21 46416595 46416595 + C C G Missense_Mutation SNP ENST00000359568.10 exon30 c.C6677G p.S2226C exonic ENSG00000160299.17 . nonsynonymous SNV ENSG00000160299.17:ENST00000359568.10:exon30:c.C6677G:p.S2226C 21q22.3 C3N-00244 . . . . . . . . . 9.20 D D D D N D M T D 0.476 T T T 0.117 0.319 0.672 0.383 T T T T D T 3.770 25.700 0.993 D N 0.704 7.182 0.685 7.489 1.000 0.672 0.702 0.723 0.636 . 5.380 5.380 4.016 1.000 0.599 0.994 0.997 0.991 976 . . . . PCNT 40 0 36 21 0.368421052631579 TRUE TRUE +ENSG00000162896.6 . BCM GRCh38.p13 chr1 206939118 206939118 + C C - Splice_Site SNP NA NA NA NA splicing ENSG00000162896.6 ENST00000356495.5:exon3:c.388+1G>- . . 1q32.1 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIGR 69 0 39 24 0.380952380952381 TRUE TRUE +ENSG00000134215.16 . BCM GRCh38.p13 chr1 107596285 107596285 + A A G Silent SNP ENST00000370056.9 exon25 c.T2277C p.D759D exonic ENSG00000134215.16 . synonymous SNV ENSG00000134215.16:ENST00000370056.9:exon25:c.T2277C:p.D759D 1p13.3 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAV3 155 0 106 33 0.237410071942446 TRUE TRUE +ENSG00000132394.11 . BCM GRCh38.p13 chr3 128262173 128262173 + A A G Silent SNP ENST00000254730.11 exon3 c.A570G p.G190G exonic ENSG00000132394.11 . synonymous SNV ENSG00000132394.11:ENST00000254730.11:exon3:c.A570G:p.G190G 3q21.3 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EEFSEC 171 0 94 53 0.360544217687075 TRUE TRUE +ENSG00000114019.14 . BCM GRCh38.p13 chr3 134359284 134359284 + T T C Silent SNP ENST00000422605.6 exon8 c.A2103G p.T701T exonic ENSG00000114019.14 . synonymous SNV ENSG00000114019.14:ENST00000422605.6:exon8:c.A2103G:p.T701T 3q22.2 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMOTL2 152 0 109 60 0.355029585798817 TRUE TRUE +ENSG00000175054.16 . BCM GRCh38.p13 chr3 142453185 142453185 + T T C Silent SNP ENST00000350721.9 exon46 c.A7704G p.P2568P exonic ENSG00000175054.16 . synonymous SNV ENSG00000175054.16:ENST00000350721.9:exon46:c.A7704G:p.P2568P 3q23 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63391720;OCCURENCE=1(skin) ATR 221 0 144 46 0.242105263157895 TRUE TRUE +ENSG00000145242.13 . BCM GRCh38.p13 chr4 65365027 65365027 + C C T Silent SNP ENST00000273854.7 exon12 c.G2226A p.V742V exonic ENSG00000145242.13 . synonymous SNV ENSG00000145242.13:ENST00000273854.7:exon12:c.G2226A:p.V742V 4q13.1 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56655405;OCCURENCE=1(lung) EPHA5 82 0 63 31 0.329787234042553 TRUE TRUE +ENSG00000087116.16 . BCM GRCh38.p13 chr5 179343956 179343956 + G G T Silent SNP ENST00000251582.12 exon2 c.C345A p.V115V exonic ENSG00000087116.16 . synonymous SNV ENSG00000087116.16:ENST00000251582.12:exon2:c.C345A:p.V115V 5q35.3 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS2 238 0 224 97 0.302180685358255 TRUE TRUE +ENSG00000148396.18 . BCM GRCh38.p13 chr9 136456062 136456062 + C C G Silent SNP ENST00000313050.11 exon17 c.G5655C p.R1885R exonic ENSG00000148396.18 . synonymous SNV ENSG00000148396.18:ENST00000313050.11:exon17:c.G5655C:p.R1885R 9q34.3 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC16A 71 0 39 22 0.360655737704918 TRUE TRUE +ENSG00000184956.16 . BCM GRCh38.p13 chr11 1017287 1017287 + A A C Silent SNP ENST00000421673.7 exon31 c.T5514G p.T1838T exonic ENSG00000184956.16 . synonymous SNV ENSG00000184956.16:ENST00000421673.7:exon31:c.T5514G:p.T1838T 11p15.5 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC6 748 0 727 40 0.0521512385919166 NA TRUE +ENSG00000006534.16 . BCM GRCh38.p13 chr11 68019726 68019726 + T T C Silent SNP ENST00000342456.11 exon6 c.T492C p.A164A exonic ENSG00000006534.16 . synonymous SNV ENSG00000006534.16:ENST00000342456.11:exon6:c.T492C:p.A164A 11q13.2 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALDH3B1 101 0 57 35 0.380434782608696 TRUE TRUE +ENSG00000048649.13 . BCM GRCh38.p13 chr11 77701564 77701564 + A A G Silent SNP ENST00000308488.10 exon6 c.T1665C p.A555A exonic ENSG00000048649.13 . synonymous SNV ENSG00000048649.13:ENST00000308488.10:exon6:c.T1665C:p.A555A 11q14.1 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSF1 165 0 130 38 0.226190476190476 TRUE TRUE +ENSG00000127334.11 . BCM GRCh38.p13 chr12 67657759 67657759 + C C T Silent SNP ENST00000344096.4 exon3 c.C852T p.V284V exonic ENSG00000127334.11 . synonymous SNV ENSG00000127334.11:ENST00000344096.4:exon3:c.C852T:p.V284V 12q15 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYRK2 171 0 131 47 0.264044943820225 TRUE TRUE +ENSG00000221890.5 . BCM GRCh38.p13 chr22 38826668 38826668 + C C T Silent SNP ENST00000333039.3 exon3 c.G930A p.R310R exonic ENSG00000221890.5 . synonymous SNV ENSG00000221890.5:ENST00000333039.3:exon3:c.G930A:p.R310R 22q13.1 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPTXR 226 0 125 46 0.269005847953216 TRUE TRUE +ENSG00000169554.21 . BCM GRCh38.p13 chr2 144512373 144512373 + A A T Intron SNP NA NA NA NA intronic ENSG00000169554.21 . . . 2q22.3 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZEB2 185 0 100 148 0.596774193548387 TRUE NA +ENSG00000198917.13 . BCM GRCh38.p13 chr9 128822754 128822754 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000198917.13;ENSG00000286112.1 ENST00000361256.10:c.*11G>C;ENST00000651925.1:c.*2181G>C . . 9q34.11 C3N-00244 . . . . . . . . . 1.12 . D . . N N . . . . T T . 0.013 . 0.292 . . T T T T T 0.245 3.642 0.673 N N -1.025 0.378 -1.150 0.327 1.000 0.295 0.272 0.320 0.323 . 3.280 -2.090 -0.876 0.053 0.524 0.000 0.001 0.003 818 . . . . SPOUT1 262 0 177 63 0.2625 TRUE TRUE +ENSG00000261997.1 . BCM GRCh38.p13 chr16 55541900 55541900 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000261997.1 . . . 16q12.2 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC007336.1 97 0 64 12 0.157894736842105 TRUE TRUE +ENSG00000130005.13 . BCM GRCh38.p13 chr19 1398897 1398897 + G G A Intron SNP NA NA NA NA intronic ENSG00000130005.13 . . . 19p13.3 C3N-00244 . . . . . . . . . 2.15 T T . . . N . D N 0.056 T T D 0.209 0.152 0.229 0.517 T . T T T T 0.775 9.144 0.724 N N -1.265 0.185 -1.378 0.163 1.000 0.635 0.644 0.645 0.605 . 2.240 -2.170 1.024 0.564 0.493 0.507 0.008 0.006 940 . . . . GAMT 183 0 130 63 0.326424870466321 TRUE TRUE +ENSG00000196248.5 . BCM GRCh38.p13 chr11 123976757 123976758 + GC GC AT Unknown MNP ENST00000531945.1 exon1 c.934_935delinsAT p.A312I exonic ENSG00000196248.5 . nonframeshift substitution ENSG00000196248.5:ENST00000531945.1:exon1:c.934_935delinsAT:p.A312I 11q24.1 C3N-00244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR10S1 92 26 58 22 0.275 TRUE NA +ENSG00000265972.6 . BCM GRCh38.p13 chr1 145994383 145994383 + T T C Missense_Mutation SNP ENST00000582401.6 exon6 c.A886G p.I296V exonic ENSG00000265972.6 . nonsynonymous SNV ENSG00000265972.6:ENST00000582401.6:exon6:c.A886G:p.I296V 1q21.1 C3N-00246 . . . . . . . . . 3.7 D D . . . . . T N 0.844 . . . . . . . . T . . . T 4.059 27.400 . . D . . . . . . . . . . . . 5.740 1.048 0.661 1.000 0.996 0.995 958 Arrestin_C-terminal-like_domain . . . TXNIP 129 0 126 62 0.329787234042553 TRUE TRUE +ENSG00000143153.13 . BCM GRCh38.p13 chr1 169131546 169131546 + - NA A Frame_Shift_Ins NA ENST00000367815.9 exon6 c.904dupA p.S303Efs*11 exonic ENSG00000143153.13 . frameshift insertion ENSG00000143153.13:ENST00000367815.9:exon6:c.904dupA:p.S303Efs*11 1q24.2 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP1B1 NA NA NA NA NA NA NA +ENSG00000088205.13 . BCM GRCh38.p13 chr2 117821682 117821682 + G G A Missense_Mutation SNP ENST00000263239.7 exon5 c.G683A p.G228D exonic ENSG00000088205.13 . nonsynonymous SNV ENSG00000088205.13:ENST00000263239.7:exon5:c.G683A:p.G228D 2q14.1 C3N-00246 . . . . . . . . . 19.20 D D D D D D H D D 0.973 D D D 0.918 0.963 0.950 0.749 D T D D D D 4.213 28.800 0.999 D D 1.151 20.112 1.018 20.003 1.000 0.707 0.725 0.725 0.714 . 4.950 4.950 9.237 1.158 0.656 1.000 1.000 0.978 957 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . DDX18 165 0 141 56 0.284263959390863 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178530944 178530944 + G G C Missense_Mutation SNP ENST00000591111.5 exon308 c.C100748G p.T33583S exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon308:c.C100748G:p.T33583S 2q31.2 C3N-00246 . . . . . . . . . 2.17 T . B B . N N T N 0.136 T T T 0.086 0.204 0.076 0.077 T . T T T T 1.250 14.020 0.825 D D -0.502 1.173 -0.412 1.350 1.000 0.554 0.522 0.602 0.613 . 4.990 4.090 3.406 0.245 0.676 0.234 0.919 0.951 363 . . . . TTN 142 0 115 71 0.381720430107527 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149800 10149801 + AG AG - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.477_478del p.E160Afs*13 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.477_478del:p.E160Afs*13 3p25.3 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 380 0 87 127 0.593457943925234 TRUE TRUE +ENSG00000183977.14 . BCM GRCh38.p13 chr3 19986041 19986041 + T T A Missense_Mutation SNP ENST00000389050.5 exon3 c.A1232T p.E411V exonic ENSG00000183977.14 . nonsynonymous SNV ENSG00000183977.14:ENST00000389050.5:exon3:c.A1232T:p.E411V 3p24.3 C3N-00246 . . . . . . . . . 6.18 D D . . N N M T D 0.374 T T T 0.248 0.522 0.365 . T T T T D T 3.388 24.400 0.991 D N 0.105 2.907 0.091 2.696 0.997 0.476 0.602 0.537 0.221 . 5.440 5.440 5.608 1.138 0.609 1.000 0.047 0.018 710 PPM-type_phosphatase_domain . . . PP2D1 161 0 56 72 0.5625 TRUE TRUE +ENSG00000169964.8 . BCM GRCh38.p13 chr3 44861944 44861944 + C C T Missense_Mutation SNP ENST00000302392.5 exon1 c.C20T p.P7L exonic ENSG00000169964.8 . nonsynonymous SNV ENSG00000169964.8:ENST00000302392.5:exon1:c.C20T:p.P7L 3p21.31 C3N-00246 0 0 0 0 0 0 0 0 rs767254686 0.19 T T B B N N N T N 0.111 T T T 0.017 0.262 0.014 0.269 T T T T T . 0.656 8.047 0.874 N N -1.096 0.310 -1.176 0.304 1.000 0.442 0.522 0.520 0.373 . 3.900 -1.460 -0.258 0.983 0.581 0.000 0.004 0.009 297 . . . . TMEM42 47 0 11 27 0.710526315789474 TRUE NA +ENSG00000163975.12 . BCM GRCh38.p13 chr3 197026728 197026728 + C C T Missense_Mutation SNP ENST00000296350.10 exon3 c.G236A p.G79E exonic ENSG00000163975.12 . nonsynonymous SNV ENSG00000163975.12:ENST00000296350.10:exon3:c.G236A:p.G79E 3q29 C3N-00246 . . . . . . . . . 15.20 D D D D D D H T D 0.954 T T D 0.586 0.760 0.688 0.885 T T D D D D 3.825 26.000 0.998 D D 0.824 9.262 0.738 8.524 1.000 0.701 0.698 0.717 0.568 . 5.110 5.110 5.038 1.022 0.596 1.000 0.987 0.963 802 Transferrin-like_domain . . . MELTF 179 0 168 44 0.207547169811321 TRUE TRUE +ENSG00000153922.10 . BCM GRCh38.p13 chr5 98876480 98876480 + C C A Missense_Mutation SNP ENST00000614616.4 exon24 c.G3316T p.G1106W exonic ENSG00000153922.10 . nonsynonymous SNV ENSG00000153922.10:ENST00000614616.4:exon24:c.G3316T:p.G1106W 5q15 C3N-00246 . . . . . . . . . 13.20 D D D P U D L D D 0.337 D D D 0.313 0.276 0.882 1.099 T D T T D D 2.692 22.800 0.988 D N -0.189 1.907 -0.227 1.723 0.913 0.745 0.725 0.725 0.762 . 5.140 1.110 1.764 0.174 -0.172 1.000 0.999 0.781 905 . . . . CHD1 177 0 105 103 0.495192307692308 TRUE TRUE +ENSG00000237693.4 . BCM GRCh38.p13 chr5 150848232 150848232 + A A G Missense_Mutation SNP ENST00000522154.1 exon2 c.A109G p.T37A exonic ENSG00000237693.4 . nonsynonymous SNV ENSG00000237693.4:ENST00000522154.1:exon2:c.A109G:p.T37A 5q33.1 C3N-00246 . . . . . . . . . 0.19 T T B B . N N T N 0.048 T T T 0.151 0.567 0.014 . T T T T T T 0.140 2.469 0.113 N N -1.504 0.080 -1.308 0.204 0.233 0.554 0.588 0.547 0.542 . 3.750 1.840 4.014 -0.143 -0.243 0.968 0.031 0.004 688 IRG-type_guanine_nucleotide-binding_(G)_domain . . . IRGM 209 0 261 94 0.264788732394366 TRUE TRUE +ENSG00000189134.4 . BCM GRCh38.p13 chr6 28260471 28260471 + G G A Missense_Mutation SNP ENST00000343684.4 exon1 c.G1100A p.R367K exonic ENSG00000189134.4 . nonsynonymous SNV ENSG00000189134.4:ENST00000343684.4:exon1:c.G1100A:p.R367K 6p22.1 C3N-00246 . . . . . . . . . 12.20 T D D D D D M T D 0.811 T T T 0.294 0.709 0.427 1.295 D T T T D D 4.165 28.300 0.998 D D 0.871 10.316 0.822 10.820 1.000 0.625 0.547 0.547 0.595 . 4.630 4.630 9.735 1.176 0.676 1.000 0.997 0.997 495 . . . ID=COSV59199017;OCCURENCE=1(large_intestine) NKAPL 216 0 142 58 0.29 TRUE TRUE +ENSG00000146776.14 . BCM GRCh38.p13 chr7 105876545 105876545 + C C A Missense_Mutation SNP ENST00000419735.7 exon1 c.G14T p.R5L exonic ENSG00000146776.14 . nonsynonymous SNV ENSG00000146776.14:ENST00000419735.7:exon1:c.G14T:p.R5L 7q22.3 C3N-00246 . . . . . . . . . 9.18 D D D D . N L T N 0.645 T T D 0.122 0.195 0.605 1.322 D T T T D D 4.053 27.400 0.998 D . 0.497 5.014 0.493 5.092 1.000 0.564 0.552 0.289 0.003 . 4.680 4.680 2.953 0.883 0.465 1.000 1.000 0.998 714 . . . . ATXN7L1 70 0 62 51 0.451327433628319 TRUE TRUE +ENSG00000055609.18 . BCM GRCh38.p13 chr7 152311864 152311864 + A A C Missense_Mutation SNP ENST00000262189.11 exon5 c.T673G p.W225G exonic ENSG00000055609.18 . nonsynonymous SNV ENSG00000055609.18:ENST00000262189.11:exon5:c.T673G:p.W225G 7q36.1 C3N-00246 . . . . . . . . . 16.19 D . D D D D M D D 0.875 D D D 0.761 0.594 0.707 1.142 T T D D D T 4.311 29.700 0.951 D D 0.651 6.484 0.691 7.590 1.000 0.732 0.744 0.659 0.684 . 5.910 5.910 7.598 1.308 0.750 1.000 0.994 0.993 958 . . . . KMT2C 200 0 113 65 0.365168539325843 TRUE TRUE +ENSG00000107104.19 . BCM GRCh38.p13 chr9 738288 738288 + T T C Missense_Mutation SNP ENST00000619269.4 exon9 c.T3337C p.F1113L exonic ENSG00000107104.19 . nonsynonymous SNV ENSG00000107104.19:ENST00000619269.4:exon9:c.T3337C:p.F1113L 9p24.3 C3N-00246 1.243e-05 0 0 0.0002 0 0 0 0 rs754840257 1.20 T T B B N N L T N 0.542 T T T 0.053 0.271 0.085 . T T T T T T 2.054 19.660 0.921 D N -0.437 1.304 -0.242 1.689 1.000 0.732 0.590 0.744 0.735 . 5.730 4.570 1.190 0.132 0.663 1.000 0.997 0.999 783 . . . . KANK1 132 1 150 8 0.0506329113924051 TRUE NA +ENSG00000107140.16 . BCM GRCh38.p13 chr9 35609702 35609702 + C C T Missense_Mutation SNP ENST00000336395.6 exon10 c.C1841T p.P614L exonic ENSG00000107140.16 . nonsynonymous SNV ENSG00000107140.16:ENST00000336395.6:exon10:c.C1841T:p.P614L 9p13.3 C3N-00246 . . . . . . . . . 10.20 D D D P D D N T N 0.563 T T D 0.380 0.220 0.424 0.310 T T T T D D 3.781 25.700 0.997 D D 0.438 4.588 0.481 4.990 1.000 0.706 0.702 0.710 0.636 . 5.120 5.120 4.813 1.026 0.549 1.000 1.000 0.997 234 . . . . TESK1 84 0 62 28 0.311111111111111 TRUE TRUE +ENSG00000107951.14 . BCM GRCh38.p13 chr10 30341506 30341506 + A A T Missense_Mutation SNP ENST00000263063.8 exon2 c.T292A p.F98I exonic ENSG00000107951.14 . nonsynonymous SNV ENSG00000107951.14:ENST00000263063.8:exon2:c.T292A:p.F98I 10p11.23 C3N-00246 . . . . . . . . . 5.20 D D B B D N N T D 0.224 T T T 0.135 0.530 0.202 0.525 T T T T T T 1.672 16.840 0.968 D N -0.580 1.024 -0.448 1.289 0.875 0.707 0.725 0.659 0.714 . 5.120 3.270 4.458 -0.138 -0.772 1.000 0.336 0.323 922 . . . . MTPAP 203 0 148 96 0.39344262295082 TRUE TRUE +ENSG00000067798.16 . BCM GRCh38.p13 chr12 78121995 78121995 + G G A Missense_Mutation SNP ENST00000397909.7 exon16 c.G3805A p.V1269M exonic ENSG00000067798.16 . nonsynonymous SNV ENSG00000067798.16:ENST00000397909.7:exon16:c.G3805A:p.V1269M 12q21.2 C3N-00246 . . . . . . . . . 4.20 T T B B U D N T N 0.497 T T T 0.161 0.111 0.187 0.294 T T T T T D 2.288 21.500 0.160 D D 0.029 2.617 0.262 3.502 1.000 0.651 0.574 0.602 0.684 . 6.060 6.060 5.455 1.176 0.676 1.000 1.000 1.000 946 . . . ID=COSV57078458;OCCURENCE=1(endometrium) NAV3 253 0 157 104 0.398467432950192 TRUE TRUE +ENSG00000174405.13 . BCM GRCh38.p13 chr13 108210859 108210859 + C C A Missense_Mutation SNP ENST00000611712.4 exon3 c.G410T p.C137F exonic ENSG00000174405.13 . nonsynonymous SNV ENSG00000174405.13:ENST00000611712.4:exon3:c.G410T:p.C137F 13q33.3 C3N-00246 . . . . . . . . . 8.20 D T B B D D M T D 0.475 T T T 0.177 0.480 0.402 0.126 T T T T D T 2.623 22.700 0.963 D D -0.056 2.317 0.033 2.476 1.000 0.707 0.725 0.653 0.714 . 5.840 4.070 4.675 1.026 0.589 1.000 0.986 0.997 992 DNA_ligase,_ATP-dependent,_N-terminal . . . LIG4 117 0 103 42 0.289655172413793 TRUE TRUE +ENSG00000189139.6 . BCM GRCh38.p13 chr14 44506743 44506743 + T T C Missense_Mutation SNP ENST00000340446.5 exon1 c.A245G p.K82R exonic ENSG00000189139.6 . nonsynonymous SNV ENSG00000189139.6:ENST00000340446.5:exon1:c.A245G:p.K82R 14q21.2 C3N-00246 . . . . . . . . . 5.19 D D D D . N L T N 0.153 T T T 0.058 0.220 0.154 0.090 T T T T T T 2.913 23.200 0.997 D N 0.117 2.954 -0.012 2.320 0.000 0.487 0.574 0.574 0.564 . 5.250 4.090 1.646 1.138 0.665 0.958 0.853 0.260 948 . . . . FSCB 153 0 169 16 0.0864864864864865 TRUE TRUE +ENSG00000214265.11 . BCM GRCh38.p13 chr15 24962155 24962155 + C C A Missense_Mutation SNP ENST00000551312.6 exon2 c.C56A p.P19Q exonic ENSG00000214265.11;ENSG00000273173.5 . nonsynonymous SNV ENSG00000214265.11:ENST00000551312.6:exon2:c.C56A:p.P19Q,ENSG00000273173.5:ENST00000577949.5:exon2:c.C56A:p.P19Q 15q11.2 C3N-00246 . . . . . . . . . 12.17 D D D D . D . . D 0.511 T T D 0.262 0.574 0.563 . D T D D D T 3.569 24.900 0.981 D N 0.526 5.247 0.473 4.925 1.000 0.732 0.744 0.702 0.714 . 3.760 3.760 2.345 0.877 0.599 0.996 1.000 0.998 994 . . . . AC124312.1 430 4 326 175 0.349301397205589 TRUE TRUE +ENSG00000198838.13 . BCM GRCh38.p13 chr15 33854444 33854444 + G G C Missense_Mutation SNP ENST00000634891.1 exon97 c.G13855C p.D4619H exonic ENSG00000198838.13 . nonsynonymous SNV ENSG00000198838.13:ENST00000634891.1:exon97:c.G13855C:p.D4619H 15q14 C3N-00246 . . . . . . . . . 20.20 D D D D D D H D D 0.969 D D D 0.933 0.666 0.947 0.794 D D D D D D 4.474 32 0.993 D D 0.959 12.669 0.877 12.800 1.000 0.554 0.588 0.602 0.568 . 4.960 4.960 9.824 1.083 0.676 1.000 0.996 0.988 850 . . . . RYR3 97 0 65 35 0.35 TRUE TRUE +ENSG00000090447.12 . BCM GRCh38.p13 chr16 4260212 4260212 + T T G Missense_Mutation SNP ENST00000204517.11 exon6 c.A700C p.T234P exonic ENSG00000090447.12 . nonsynonymous SNV ENSG00000090447.12:ENST00000204517.11:exon6:c.A700C:p.T234P 16p13.3 C3N-00246 . . . . . . . . . 14.20 D D P B D D M D N 0.597 D D D 0.632 0.216 0.775 0.564 T T D D T D 3.192 23.800 0.995 D D 0.328 3.929 0.362 4.102 0.921 0.732 0.654 0.744 0.655 . 4.790 4.790 5.531 1.134 0.661 1.000 0.868 0.544 829 . . . ID=COSV52597485;OCCURENCE=1(oesophagus) TFAP4 20 1 33 10 0.232558139534884 TRUE NA +ENSG00000091536.19 . BCM GRCh38.p13 chr17 18151180 18151180 + G G T Missense_Mutation SNP ENST00000647165.2 exon39 c.G7544T p.R2515L exonic ENSG00000091536.19 . nonsynonymous SNV ENSG00000091536.19:ENST00000647165.2:exon39:c.G7544T:p.R2515L 17p11.2 C3N-00246 . . . . . . . . . 7.19 D T P B . D M D D 0.428 T T D 0.422 0.303 0.730 . T T D T T T 1.621 16.510 0.967 N N -0.137 2.060 -0.142 1.931 0.882 0.534 0.547 0.686 0.613 . 5.250 4.210 1.375 1.176 0.676 0.004 0.009 0.008 179 . . . . MYO15A 151 0 107 68 0.388571428571429 TRUE TRUE +ENSG00000176658.17 . BCM GRCh38.p13 chr17 32654600 32654600 + G G C Missense_Mutation SNP ENST00000318217.10 exon18 c.C2367G p.I789M exonic ENSG00000176658.17 . nonsynonymous SNV ENSG00000176658.17:ENST00000318217.10:exon18:c.C2367G:p.I789M 17q11.2 C3N-00246 . . . . . . . . . 15.20 D D D P U D M D N 0.780 D D D 0.703 0.430 0.922 0.667 T T D D D D 3.684 25.300 0.998 D D 0.742 7.747 0.737 8.505 1.000 0.707 0.725 0.659 0.714 . 5.500 5.500 5.173 1.176 0.676 1.000 0.997 0.979 905 . . . . MYO1D 90 0 51 35 0.406976744186047 TRUE TRUE +ENSG00000168610.14 . BCM GRCh38.p13 chr17 42325038 42325040 + CAC CAC - In_Frame_Del DEL ENST00000264657.9 exon16 c.1387_1389del p.V463del exonic ENSG00000168610.14 . nonframeshift deletion ENSG00000168610.14:ENST00000264657.9:exon16:c.1387_1389del:p.V463del 17q21.2 C3N-00246 . . . . . . . . rs113994138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAT3 119 0 97 40 0.291970802919708 TRUE NA +ENSG00000198795.11 . BCM GRCh38.p13 chr18 25227396 25227413 + GTACTTCTTGTCCCCGGT GTACTTCTTGTCCCCGGT - In_Frame_Del DEL ENST00000361524.8 exon4 c.505_522del p.T169_Y174del exonic ENSG00000198795.11 . nonframeshift deletion ENSG00000198795.11:ENST00000361524.8:exon4:c.505_522del:p.T169_Y174del 18q11.2 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF521 420 0 277 69 0.199421965317919 TRUE TRUE +ENSG00000101544.9 . BCM GRCh38.p13 chr18 80137197 80137197 + C C A Nonsense_Mutation SNP ENST00000262198.9 exon4 c.C1784A p.S595X exonic ENSG00000101544.9 . stopgain ENSG00000101544.9:ENST00000262198.9:exon4:c.C1784A:p.S595X 18q23 C3N-00246 . . . . . . . . . 4.6 . . . . N D . . . 0.071 . . . . . . . . . D D . . 6.261 35 0.996 D N 0.727 7.509 0.466 4.860 1.000 0.672 0.702 0.702 0.711 . 4.860 4.860 2.847 0.980 0.599 0.094 0.334 0.945 . . . . . ADNP2 186 0 124 73 0.370558375634518 TRUE TRUE +ENSG00000141994.16 . BCM GRCh38.p13 chr19 5787639 5787639 + C C T Missense_Mutation SNP ENST00000309061.12 exon6 c.G1162A p.D388N exonic ENSG00000141994.16 . nonsynonymous SNV ENSG00000141994.16:ENST00000309061.12:exon6:c.G1162A:p.D388N 19p13.3 C3N-00246 . . . . . . . . . 12.20 D D D D U D M T D 0.940 T T D 0.344 0.716 0.770 1.265 T T T T D D 4.165 28.300 0.999 D D 0.766 8.145 0.636 6.704 1.000 0.707 0.698 0.702 0.714 . 3.610 3.610 7.575 0.957 0.519 1.000 0.873 0.926 964 DUS-like,_FMN-binding_domain . . . DUS3L 283 0 199 112 0.360128617363344 TRUE TRUE +ENSG00000167600.14 . BCM GRCh38.p13 chr19 41194679 41194679 + G G A Missense_Mutation SNP ENST00000310054.9 exon2 c.G313A p.A105T exonic ENSG00000167600.14 . nonsynonymous SNV ENSG00000167600.14:ENST00000310054.9:exon2:c.G313A:p.A105T 19q13.2 C3N-00246 . . . . . . . . . 4.20 D D P B N N L T N 0.327 T T D 0.147 0.711 0.533 0.972 T T T T D T 2.307 21.600 0.991 N N -0.404 1.374 -0.511 1.185 1.000 0.653 0.610 0.672 0.669 . 4.110 3.030 2.158 1.176 0.618 0.954 0.030 0.183 624 . . . . CYP2S1 158 0 139 58 0.294416243654822 TRUE TRUE +ENSG00000130844.18 . BCM GRCh38.p13 chr19 53577081 53577081 + T T C Missense_Mutation SNP ENST00000253144.13 exon7 c.T521C p.L174P exonic ENSG00000130844.18 . nonsynonymous SNV ENSG00000130844.18:ENST00000253144.13:exon7:c.T521C:p.L174P 19q13.42 C3N-00246 . . . . . . . . . 15.20 D D D D N D H T D 0.722 D D D 0.472 0.794 0.933 2.034 T T D D D T 2.867 23.100 0.998 D D 0.592 5.848 0.419 4.492 0.618 0.707 0.725 0.725 0.636 . 3.680 3.680 3.000 0.852 0.566 0.102 0.556 0.903 994 Zinc_finger_C2H2-type . . . ZNF331 116 0 96 62 0.392405063291139 TRUE TRUE +ENSG00000171487.15 . BCM GRCh38.p13 chr19 56027889 56027889 + G G A Missense_Mutation SNP ENST00000390649.8 exon7 c.G1656A p.M552I exonic ENSG00000171487.15 . nonsynonymous SNV ENSG00000171487.15:ENST00000390649.8:exon7:c.G1656A:p.M552I 19q13.43 C3N-00246 8.328e-06 0 0 0 0 1.506e-05 0 0 rs761012006 1.20 D T B B N N N T N 0.154 T T T 0.085 0.418 0.140 0.024 T T T T T T -0.093 0.859 0.653 N N -1.200 0.227 -1.276 0.225 0.000 0.487 0.574 0.547 0.564 . 2.970 -2.130 -0.451 -0.950 0.675 0.000 0.000 0.004 969 . . . ID=COSV66765236;OCCURENCE=1(NS) NLRP5 199 1 136 76 0.358490566037736 TRUE TRUE +ENSG00000179242.16 . BCM GRCh38.p13 chr20 61894981 61894981 + C C A Missense_Mutation SNP ENST00000614565.5 exon8 c.C1122A p.N374K exonic ENSG00000179242.16 . nonsynonymous SNV ENSG00000179242.16:ENST00000614565.5:exon8:c.C1122A:p.N374K 20q13.33 C3N-00246 . . . . . . . . . 8.20 D T P P D D L T D 0.939 T T T 0.187 0.795 0.613 . T T T T D D 3.377 24.300 0.998 D D 0.212 3.358 0.218 3.273 0.755 0.648 0.547 0.693 0.568 . 4.600 2.610 4.495 0.927 0.549 1.000 0.988 0.993 940 Cadherin-like . . . CDH4 158 0 38 99 0.722627737226277 TRUE TRUE +ENSG00000156282.5 . BCM GRCh38.p13 chr21 30166098 30166098 + C C G Missense_Mutation SNP ENST00000286808.5 exon1 c.G520C p.V174L exonic ENSG00000156282.5 . nonsynonymous SNV ENSG00000156282.5:ENST00000286808.5:exon1:c.G520C:p.V174L 21q21.3 C3N-00246 8.245e-06 0 0 0 0 1.499e-05 0 0 rs148072252 3.20 T T B B D N N D N 0.071 T T D 0.261 . 0.609 0.029 T T T T T T 0.431 5.768 0.206 N N -0.946 0.464 -0.855 0.681 0.998 0.487 0.574 0.574 0.564 . 4.630 3.750 -0.861 1.025 0.599 0.000 0.937 0.722 565 . . . . CLDN17 326 0 213 128 0.375366568914956 TRUE NA +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53217208 53217208 + G G A Nonsense_Mutation SNP ENST00000375401.8 exon5 c.C592T p.R198X exonic ENSG00000126012.12 . stopgain ENSG00000126012.12:ENST00000375401.8:exon5:c.C592T:p.R198X Xp11.22 C3N-00246 . . . . . . . . . 4.5 . . . . N A . . . 0.916 . . . . . . . . . D D . . 6.253 35 0.998 D . . . . . 1.000 . . . . . 5.320 5.320 5.705 1.176 0.676 1.000 1.000 0.998 74 . . . ID=COSV62890827;OCCURENCE=1(biliary_tract),1(soft_tissue),1(kidney),1(pancreas),1(endometrium) KDM5C 192 0 110 180 0.620689655172414 TRUE TRUE +ENSG00000161202.20 . BCM GRCh38.p13 chr3 184170202 184170202 + C C T Silent SNP ENST00000313143.9 exon14 c.C1695T p.A565A exonic ENSG00000161202.20 . synonymous SNV ENSG00000161202.20:ENST00000313143.9:exon14:c.C1695T:p.A565A 3q27.1 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DVL3 113 0 128 64 0.333333333333333 TRUE NA +ENSG00000182095.14 . BCM GRCh38.p13 chr7 5388327 5388327 + C C G Silent SNP ENST00000430969.5 exon5 c.G1497C p.G499G exonic ENSG00000182095.14 . synonymous SNV ENSG00000182095.14:ENST00000430969.5:exon5:c.G1497C:p.G499G 7p22.1 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNRC18 179 0 148 179 0.547400611620795 TRUE TRUE +ENSG00000104722.14 . BCM GRCh38.p13 chr8 24914849 24914849 + C C T Silent SNP ENST00000221166.10 exon1 c.C1056T p.H352H exonic ENSG00000104722.14 . synonymous SNV ENSG00000104722.14:ENST00000221166.10:exon1:c.C1056T:p.H352H 8p21.2 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEFM 174 0 143 82 0.364444444444444 TRUE TRUE +ENSG00000158169.13 . BCM GRCh38.p13 chr9 95171126 95171126 + C C T Silent SNP ENST00000289081.8 exon6 c.G474A p.A158A exonic ENSG00000158169.13 . synonymous SNV ENSG00000158169.13:ENST00000289081.8:exon6:c.G474A:p.A158A 9q22.32 C3N-00246 8.281e-06 0 0 0 0 1.505e-05 0 0 rs768342908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FANCC 264 0 190 120 0.387096774193548 TRUE NA +ENSG00000214756.8 . BCM GRCh38.p13 chr11 62666574 62666574 + G G A Silent SNP ENST00000532971.2 exon3 c.G246A p.V82V exonic ENSG00000214756.8 . synonymous SNV ENSG00000214756.8:ENST00000532971.2:exon3:c.G246A:p.V82V 11q12.3 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSKMT 199 1 132 84 0.388888888888889 TRUE TRUE +ENSG00000140564.12 . BCM GRCh38.p13 chr15 90876934 90876934 + C C T Silent SNP ENST00000268171.8 exon5 c.C411T p.A137A exonic ENSG00000140564.12 . synonymous SNV ENSG00000140564.12:ENST00000268171.8:exon5:c.C411T:p.A137A 15q26.1 C3N-00246 . . . . . . . . rs146069392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FURIN 146 0 110 55 0.333333333333333 TRUE NA +ENSG00000141627.13 . BCM GRCh38.p13 chr18 49333781 49333781 + G G A Silent SNP ENST00000269445.10 exon7 c.C567T p.H189H exonic ENSG00000141627.13 . synonymous SNV ENSG00000141627.13:ENST00000269445.10:exon7:c.C567T:p.H189H 18q21.1 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYM 217 0 199 88 0.306620209059233 TRUE TRUE +ENSG00000124171.9 . BCM GRCh38.p13 chr20 50737988 50737988 + T T C Silent SNP ENST00000371610.7 exon2 c.T198C p.H66H exonic ENSG00000124171.9 . synonymous SNV ENSG00000124171.9:ENST00000371610.7:exon2:c.T198C:p.H66H 20q13.13 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PARD6B 112 0 37 96 0.721804511278195 TRUE TRUE +ENSG00000163728.11 . BCM GRCh38.p13 chr3 180607782 180607782 + T T C Intron SNP NA NA NA NA intronic ENSG00000163728.11 . . . 3q26.33 C3N-00246 . . . . . . . . . 5.12 D T . . . D . . N 0.464 T T T 0.052 0.733 0.569 . . . T T D . 2.308 21.600 0.989 D D -0.304 1.604 -0.054 2.182 0.986 0.719 0.723 0.670 0.636 . 5.570 4.210 3.605 1.138 0.665 1.000 0.999 0.931 607 . . . . TTC14 84 1 71 6 0.0779220779220779 NA TRUE +ENSG00000252639.1 . BCM GRCh38.p13 chr10 27195660 27195660 + T T A IGR SNP NA NA NA NA intergenic ENSG00000252639.1;ENSG00000107897.19 dist=2160;dist=1693 . . 10p12.1 C3N-00246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNU2-24P 36 0 42 14 0.25 TRUE NA +ENSG00000067798.16 . BCM GRCh38.p13 chr12 78037018 78037018 + C C A Intron SNP NA NA NA NA intronic ENSG00000067798.16 . . . 12q21.2 C3N-00246 . . . . . . . . . 2.3 . . . . . D . . . . . . . . . . . . . . . . T 2.088 19.930 0.763 D . . . . . 1.000 0.089 0.063 0.063 0.099 0.967 5.720 5.720 2.990 0.952 0.599 0.994 0.656 0.954 931 . . . . NAV3 155 1 111 59 0.347058823529412 TRUE NA +ENSG00000066135.13 . BCM GRCh38.p13 chr1 43667976 43667976 + A A T Missense_Mutation SNP ENST00000372396.4 exon9 c.A1120T p.M374L exonic ENSG00000066135.13 . nonsynonymous SNV ENSG00000066135.13:ENST00000372396.4:exon9:c.A1120T:p.M374L 1p34.2 C3N-00305 . . . . . . . . . 0.20 T T B B N N L T N 0.115 T T T 0.026 0.289 0.103 0.551 T T T T T T 0.574 7.263 0.875 N N -0.784 0.679 -0.731 0.855 0.998 0.707 0.702 0.698 0.714 . 5.580 -0.008 0.073 0.324 0.756 0.000 0.999 0.979 567 . . . . KDM4A 257 0 179 41 0.186363636363636 NA TRUE +ENSG00000213516.10 . BCM GRCh38.p13 chr1 88983733 88983733 + C C A Nonsense_Mutation SNP ENST00000652648.1 exon3 c.G94T p.G32X exonic ENSG00000213516.10 . stopgain ENSG00000213516.10:ENST00000652648.1:exon3:c.G94T:p.G32X 1p22.2 C3N-00305 . . . . . . . . . 4.6 . . . . U D . . . 0.084 . . . . . . . . . D D . . 5.375 34 0.992 D N 0.711 7.280 0.438 4.636 1.000 0.722 0.636 0.636 0.735 . 1.590 1.590 5.298 0.258 0.224 1.000 0.467 0.254 815 RNA_recognition_motif_domain;RNA_recognition_motif_domain,_eukaryote . . ID=COSV99037172;OCCURENCE=1(lung) RBMXL1 403 0 359 60 0.143198090692124 NA TRUE +ENSG00000162909.18 . BCM GRCh38.p13 chr1 223752009 223752009 + G G C Missense_Mutation SNP ENST00000295006.6 exon8 c.G912C p.W304C exonic ENSG00000162909.18 . nonsynonymous SNV ENSG00000162909.18:ENST00000295006.6:exon8:c.G912C:p.W304C 1q41 C3N-00305 . . . . . . . . . 19.20 D D D D D D H D D 0.980 D D D 0.873 0.919 0.976 0.712 T D D D D D 4.616 32 0.995 D D 1.184 22.337 1.088 25.809 1.000 0.706 0.709 0.710 0.711 . 6.170 6.170 8.816 1.176 0.676 1.000 0.982 0.874 . Peptidase_C2,_calpain,_catalytic_domain . . . CAPN2 138 0 96 20 0.172413793103448 TRUE TRUE +ENSG00000116984.13 . BCM GRCh38.p13 chr1 236895394 236895394 + G G A Missense_Mutation SNP ENST00000366577.10 exon31 c.G3442A p.E1148K exonic ENSG00000116984.13 . nonsynonymous SNV ENSG00000116984.13:ENST00000366577.10:exon31:c.G3442A:p.E1148K 1q43 C3N-00305 . . . . . . . . . 13.20 D T B B D D M T D 0.759 T T D 0.534 0.738 0.788 0.466 T D D D D D 3.561 24.900 0.998 D D -0.043 2.361 0.070 2.615 1.000 0.732 0.725 0.744 0.714 . 5.700 5.700 9.551 1.175 0.676 1.000 0.436 0.622 806 Vitamin_B12-dependent_methionine_synthase,_activation_domain . . ID=COSV63966462;OCCURENCE=1(skin) MTR 315 2 302 55 0.15406162464986 TRUE TRUE +ENSG00000196208.14 . BCM GRCh38.p13 chr2 11616659 11616669 + GAAAAGGGAGA GAAAAGGGAGA - Frame_Shift_Del DEL ENST00000381486.7 exon21 c.3351_3361del p.K1118Vfs*54 exonic ENSG00000196208.14 . frameshift deletion ENSG00000196208.14:ENST00000381486.7:exon21:c.3351_3361del:p.K1118Vfs*54 2p25.1 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GREB1 157 0 119 21 0.15 TRUE TRUE +ENSG00000183023.18 . BCM GRCh38.p13 chr2 40430103 40430103 + T T C Missense_Mutation SNP ENST00000403092.5 exon2 c.A178G p.I60V exonic ENSG00000183023.18 . nonsynonymous SNV ENSG00000183023.18:ENST00000403092.5:exon2:c.A178G:p.I60V 2p22.1 C3N-00305 . . . . . . . . . 7.20 D T P B D D L T N 0.441 T T T 0.072 0.258 0.189 0.249 T T T T D D 1.974 19.060 0.968 D D 0.177 3.201 0.343 3.978 1.000 0.554 0.574 0.618 0.568 . 6.040 6.040 6.118 1.138 0.665 1.000 1.000 0.993 776 . . . . SLC8A1 171 0 139 28 0.167664670658683 TRUE NA +ENSG00000183023.18 . BCM GRCh38.p13 chr2 40430109 40430109 + C C A Missense_Mutation SNP ENST00000403092.5 exon2 c.G172T p.G58W exonic ENSG00000183023.18 . nonsynonymous SNV ENSG00000183023.18:ENST00000403092.5:exon2:c.G172T:p.G58W 2p22.1 C3N-00305 . . . . . . . . . 17.20 D D D D D D H T D 0.844 T T D 0.607 0.468 0.677 1.042 D D D D D D 3.960 26.700 0.994 D D 0.834 9.482 0.790 9.828 1.000 0.554 0.574 0.618 0.568 . 6.040 5.170 7.750 1.026 0.599 1.000 1.000 0.999 776 . . . . SLC8A1 172 0 134 31 0.187878787878788 TRUE TRUE +ENSG00000115486.12 . BCM GRCh38.p13 chr2 85554199 85554199 + A A G Missense_Mutation SNP ENST00000233838.9 exon7 c.T833C p.I278T exonic ENSG00000115486.12 . nonsynonymous SNV ENSG00000115486.12:ENST00000233838.9:exon7:c.T833C:p.I278T 2p11.2 C3N-00305 8.237e-05 0.0004 0.0002 0 0 1.499e-05 0 0.0002 rs139689026 4.20 T T B B N N L D N 0.177 T D D 0.174 . 0.762 0.354 T D T T T T 1.182 13.490 0.968 N N -0.629 0.935 -0.568 1.095 1.000 0.707 0.725 0.702 0.714 . 5.910 3.520 2.075 1.312 0.756 0.003 0.982 0.996 587 HTTM . . . GGCX 337 0 273 50 0.154798761609907 TRUE NA +ENSG00000128641.19 . BCM GRCh38.p13 chr2 191392194 191392194 + C C T Missense_Mutation SNP ENST00000392318.8 exon19 c.C2069T p.P690L exonic ENSG00000128641.19 . nonsynonymous SNV ENSG00000128641.19:ENST00000392318.8:exon19:c.C2069T:p.P690L 2q32.3 C3N-00305 . . . . . . . . . 18.20 D D D D D D M T D 0.842 D D D 0.753 0.679 0.707 1.120 D T D D D D 4.152 28.200 0.999 D D 1.000 13.935 0.936 15.377 1.000 0.732 0.574 0.744 0.728 . 5.710 5.710 7.675 1.026 0.599 1.000 1.000 1.000 494 Myosin_head,_motor_domain . . . MYO1B 109 0 77 12 0.134831460674157 TRUE TRUE +ENSG00000135912.11 . BCM GRCh38.p13 chr2 218747182 218747182 + G G T Missense_Mutation SNP ENST00000392102.6 exon9 c.G2154T p.W718C exonic ENSG00000135912.11 . nonsynonymous SNV ENSG00000135912.11:ENST00000392102.6:exon9:c.G2154T:p.W718C 2q35 C3N-00305 . . . . . . . . . 16.20 D D D D D D H T D 0.953 T T D 0.587 0.803 0.414 0.952 D T D D D D 4.783 33 0.995 D D 1.118 18.317 1.047 22.111 1.000 0.707 0.725 0.725 0.636 . 5.910 5.910 9.552 1.176 0.676 1.000 1.000 0.995 827 . . . . TTLL4 154 0 107 34 0.24113475177305 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146636 10146636 + G G A Missense_Mutation SNP ENST00000256474.3 exon2 c.G463A p.V155M exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.G463A:p.V155M 3p25.3 C3N-00305 . . . . . . . . rs869025659 17.19 . D D D D D L D N 0.687 D D D 0.766 0.902 1.000 0.997 D D D D D D 6.706 36 0.990 D D 0.619 6.121 0.599 6.216 1.000 0.732 0.686 0.744 0.735 . 4.660 4.660 7.677 1.176 0.676 1.000 0.998 0.982 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56544010;OCCURENCE=7(kidney),1(skin) VHL 351 0 194 54 0.217741935483871 TRUE TRUE +ENSG00000154767.15 . BCM GRCh38.p13 chr3 14156390 14156390 + A A T Missense_Mutation SNP ENST00000285021.12 exon10 c.T1978A p.Y660N exonic ENSG00000154767.15 . nonsynonymous SNV ENSG00000154767.15:ENST00000285021.12:exon10:c.T1978A:p.Y660N 3p25.1 C3N-00305 . . . . . . . . . 15.20 D D D D D D M T D 0.859 T T D 0.599 0.653 0.637 0.726 T T D D D D 4.265 29.300 0.992 D D 0.906 11.218 0.856 12.006 1.000 0.707 0.702 0.725 0.714 . 5.730 5.730 8.750 1.249 0.756 1.000 0.921 0.973 789 Rad4_beta-hairpin_domain_1 . . . XPC 135 0 84 11 0.115789473684211 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609806 52609806 + C C A Nonsense_Mutation SNP ENST00000296302.11 exon16 c.G2074T p.E692X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon16:c.G2074T:p.E692X 3p21.1 C3N-00305 . . . . . . . . . 5.6 . . . . D A . . . 0.894 . . . . . . . . . D D . . 6.925 36 0.998 D N 1.248 28.963 1.126 30.301 1.000 0.732 0.744 0.744 0.714 . 6.170 6.170 7.879 1.026 0.599 1.000 0.996 0.995 27 Protein_polybromo-1,_Bromodomain_5;Bromodomain,_conserved_site;Bromodomain . . . PBRM1 102 0 70 7 0.0909090909090909 TRUE TRUE +ENSG00000090402.8 . BCM GRCh38.p13 chr3 164992196 164992196 + C C A Missense_Mutation SNP ENST00000264382.8 exon43 c.G4964T p.R1655L exonic ENSG00000090402.8 . nonsynonymous SNV ENSG00000090402.8:ENST00000264382.8:exon43:c.G4964T:p.R1655L 3q26.1 C3N-00305 . . . . . . . . . 14.20 T D B B D D L D D 0.862 D D D 0.699 0.696 0.939 0.243 T T D D D D 2.737 22.900 0.995 D D 0.232 3.447 0.331 3.902 0.970 0.487 0.574 0.574 0.564 . 4.740 4.740 3.916 1.026 0.599 1.000 0.779 0.921 840 . . . . SI 330 0 204 32 0.135593220338983 TRUE NA +ENSG00000163297.17 . BCM GRCh38.p13 chr4 80018938 80018938 + G G T Missense_Mutation SNP ENST00000307333.7 exon11 c.C905A p.S302Y exonic ENSG00000163297.17 . nonsynonymous SNV ENSG00000163297.17:ENST00000307333.7:exon11:c.C905A:p.S302Y 4q21.21 C3N-00305 . . . . . . . . . 16.20 D T P P D D M D D 0.829 D D D 0.589 0.674 0.906 0.426 T D D D D D 3.940 26.600 0.993 D D 0.545 5.408 0.592 6.122 1.000 0.706 0.634 0.659 0.613 . 5.630 5.630 6.877 1.146 0.676 1.000 0.963 0.915 811 Anthrax_toxin_receptor,_extracellular . . . ANTXR2 95 0 76 10 0.116279069767442 TRUE TRUE +ENSG00000153404.14 . BCM GRCh38.p13 chr5 156808 156808 + G G T Missense_Mutation SNP ENST00000283426.11 exon9 c.G1316T p.R439L exonic ENSG00000153404.14 . nonsynonymous SNV ENSG00000153404.14:ENST00000283426.11:exon9:c.G1316T:p.R439L 5p15.33 C3N-00305 . . . . . . . . . 3.19 D D B B . N N T D 0.354 T T T 0.049 0.341 0.126 0.152 T T T T T T 0.817 9.566 0.659 N N -0.987 0.418 -0.979 0.515 1.000 0.672 0.574 0.702 0.542 . 3.830 -0.197 0.419 -0.606 -0.324 0.310 0.005 0.041 964 . . . ID=COSV52052518;OCCURENCE=1(liver) PLEKHG4B 165 0 150 33 0.180327868852459 TRUE TRUE +ENSG00000124795.17 . BCM GRCh38.p13 chr6 18249733 18249733 + G G T Nonsense_Mutation SNP ENST00000652689.1 exon7 c.C680A p.S227X exonic ENSG00000124795.17 . stopgain ENSG00000124795.17:ENST00000652689.1:exon7:c.C680A:p.S227X 6p22.3 C3N-00305 . . . . . . . . . 4.6 . . . . N A . . . 0.973 . . . . . . . . . D D . . 7.580 38 0.994 D N 0.992 13.688 0.901 13.800 1.000 0.707 0.702 0.702 0.714 . 6.080 6.080 6.580 1.176 0.618 1.000 1.000 0.998 638 . . . . DEK 155 0 122 18 0.128571428571429 TRUE TRUE +ENSG00000186439.14 . BCM GRCh38.p13 chr6 123331897 123331897 + C C A Missense_Mutation SNP ENST00000334268.9 exon23 c.G1453T p.A485S exonic ENSG00000186439.14 . nonsynonymous SNV ENSG00000186439.14:ENST00000334268.9:exon23:c.G1453T:p.A485S 6q22.31 C3N-00305 . . . . . . . . . 0.20 T T B B N N N T N 0.078 T T T 0.029 0.219 0.048 . T T T T T T 1.680 16.890 0.833 N N -0.710 0.796 -0.587 1.066 0.000 0.487 0.574 0.574 0.564 . 4.710 0.876 0.254 0.877 0.599 0.971 0.912 0.921 774 . . . . TRDN 62 0 49 9 0.155172413793103 TRUE TRUE +ENSG00000214415.4 . BCM GRCh38.p13 chr7 80511863 80511872 + TTTTCTCCAG TTTTCTCCAG - Frame_Shift_Del DEL ENST00000398291.4 exon1 c.55_64del p.L19Sfs*13 exonic ENSG00000214415.4 . frameshift deletion ENSG00000214415.4:ENST00000398291.4:exon1:c.55_64del:p.L19Sfs*13 7q21.11 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GNAT3 299 0 274 22 0.0743243243243243 TRUE TRUE +ENSG00000005471.18 . BCM GRCh38.p13 chr7 87443765 87443765 + T T G Missense_Mutation SNP ENST00000265723.8 exon11 c.A1128C p.K376N exonic ENSG00000005471.18 . nonsynonymous SNV ENSG00000005471.18:ENST00000265723.8:exon11:c.A1128C:p.K376N 7q21.12 C3N-00305 . . . . . . . . . 4.20 T T B B D D L T N 0.265 T T D 0.202 0.304 0.700 0.321 T T T T T T 2.232 21.100 0.976 D N -0.354 1.485 -0.175 1.847 0.021 0.554 0.588 0.547 0.530 . 5.470 4.310 0.494 1.138 0.603 0.999 1.000 0.999 465 . . . . ABCB4 302 0 256 28 0.0985915492957746 TRUE TRUE +ENSG00000221836.3 . BCM GRCh38.p13 chr7 144050658 144050658 + T T A Nonsense_Mutation SNP ENST00000641693.1 exon2 c.T257A p.L86X exonic ENSG00000221836.3 . stopgain ENSG00000221836.3:ENST00000641693.1:exon2:c.T257A:p.L86X 7q35 C3N-00305 . . . . . . . . . 4.5 . . . . . D . . . 0.028 . . . . . . . . . D D . . 6.336 35 0.969 D N 0.381 4.225 0.123 2.831 0.133 0.487 0.574 0.574 0.542 . 5.110 5.110 3.424 1.129 0.650 0.148 0.033 0.895 906 GPCR,_rhodopsin-like,_7TM . . . OR2A5 122 0 107 15 0.122950819672131 TRUE TRUE +ENSG00000104237.11 . BCM GRCh38.p13 chr8 54621040 54621040 + G G A Missense_Mutation SNP ENST00000220676.2 exon2 c.G74A p.R25H exonic ENSG00000104237.11 . nonsynonymous SNV ENSG00000104237.11:ENST00000220676.2:exon2:c.G74A:p.R25H 8q12.1 C3N-00305 . . . . . . . . rs886062989 13.20 D D D D D D M T D 0.460 T T D 0.204 0.268 0.612 0.245 T T T T D D 3.406 24.400 0.999 D D 0.504 5.068 0.401 4.364 1.000 0.487 0.547 0.574 0.613 . 5.440 5.440 4.069 1.176 0.676 1.000 0.030 0.043 818 . . . ID=COSV55112474;OCCURENCE=1(central_nervous_system),2(stomach) RP1 194 0 147 18 0.109090909090909 TRUE TRUE +ENSG00000182674.6 . BCM GRCh38.p13 chr8 72936375 72936375 + G G T Missense_Mutation SNP ENST00000523207.2 exon3 c.G1020T p.L340F exonic ENSG00000182674.6 . nonsynonymous SNV ENSG00000182674.6:ENST00000523207.2:exon3:c.G1020T:p.L340F 8q21.11 C3N-00305 . . . . . . . . . 16.20 D D D D N D L D D 0.771 D D D 0.614 0.776 0.997 1.472 D D D D D D 2.094 19.970 0.999 N N -0.203 1.867 -0.313 1.538 0.002 0.554 0.547 0.602 0.564 . 5.740 -0.243 -0.995 -0.102 0.676 0.007 0.988 0.996 840 Ion_transport_domain . . . KCNB2 190 0 201 12 0.0563380281690141 TRUE TRUE +ENSG00000152465.18 . BCM GRCh38.p13 chr10 15112866 15112866 + G G A Missense_Mutation SNP ENST00000378165.9 exon10 c.C1268T p.S423L exonic ENSG00000152465.18 . nonsynonymous SNV ENSG00000152465.18:ENST00000378165.9:exon10:c.C1268T:p.S423L 10p13 C3N-00305 . . . . . . . . . 11.20 T T D D D D L T D 0.946 T T T 0.492 0.541 0.591 1.270 T T D D D D 4.030 27.200 0.999 D D 0.804 8.854 0.826 10.936 1.000 0.672 0.654 0.780 0.711 . 5.840 5.840 9.864 1.172 0.672 1.000 0.997 0.990 861 Myristoyl-CoA:protein_N-myristoyltransferase,_C-terminal . . . NMT2 171 0 127 21 0.141891891891892 NA TRUE +ENSG00000150275.18 . BCM GRCh38.p13 chr10 54089984 54089984 + G G A Missense_Mutation SNP ENST00000320301.10 exon16 c.C1997T p.T666I exonic ENSG00000150275.18 . nonsynonymous SNV ENSG00000150275.18:ENST00000320301.10:exon16:c.C1997T:p.T666I 10q21.1 C3N-00305 5.002e-05 0 0.0003 0 0 3.023e-05 0 6.098e-05 rs146121822 8.19 D D D P . D L T D 0.426 T T D 0.135 . 0.767 0.106 T T T T T D 3.527 24.800 0.999 D N 0.274 3.646 0.309 3.768 0.000 0.487 0.574 0.574 0.564 . 6.160 4.250 1.474 1.176 0.676 1.000 1.000 0.997 842 Cadherin-like . . . PCDH15 178 0 130 33 0.202453987730061 TRUE NA +ENSG00000182255.7 . BCM GRCh38.p13 chr11 30011739 30011739 + C C T Missense_Mutation SNP ENST00000328224.7 exon2 c.G940A p.V314I exonic ENSG00000182255.7 . nonsynonymous SNV ENSG00000182255.7:ENST00000328224.7:exon2:c.G940A:p.V314I 11p14.1 C3N-00305 2.486e-05 0 0 0 0 4.499e-05 0 0 rs372809586 9.20 D T P B D D L T N 0.488 T T D 0.176 . 0.713 1.184 T D T T D D 2.289 21.500 0.993 D D 0.419 4.461 0.500 5.161 1.000 0.487 0.590 0.563 0.564 . 5.160 5.160 7.905 1.026 0.599 1.000 0.996 0.985 658 Ion_transport_domain . . ID=COSV60251817;OCCURENCE=1(large_intestine),1(stomach),2(pancreas) KCNA4 181 0 155 12 0.0718562874251497 TRUE TRUE +ENSG00000137486.17 . BCM GRCh38.p13 chr11 75278710 75278710 + A A G Missense_Mutation SNP ENST00000420843.7 exon8 c.T517C p.Y173H exonic ENSG00000137486.17 . nonsynonymous SNV ENSG00000137486.17:ENST00000420843.7:exon8:c.T517C:p.Y173H 11q13.4 C3N-00305 . . . . . . . . . 7.20 T T P P D D L T D 0.519 T T T 0.299 0.628 0.564 1.148 D T T T D T 3.458 24.600 0.985 D D 0.253 3.546 0.330 3.899 1.000 0.706 0.709 0.710 0.714 . 4.980 4.980 9.325 1.312 0.756 1.000 0.993 0.984 739 Arrestin-like,_N-terminal . . ID=COSV63575149;OCCURENCE=2(liver) ARRB1 110 0 105 29 0.216417910447761 TRUE TRUE +ENSG00000137693.14 . BCM GRCh38.p13 chr11 102205911 102205911 + G G T Missense_Mutation SNP ENST00000282441.10 exon5 c.G821T p.S274I exonic ENSG00000137693.14 . nonsynonymous SNV ENSG00000137693.14:ENST00000282441.10:exon5:c.G821T:p.S274I 11q22.1 C3N-00305 . . . . . . . . . 8.20 D D D P N D L T N 0.787 T T T 0.065 0.319 0.093 0.519 T T T T D D 3.683 25.300 0.990 D D 0.151 3.091 0.235 3.357 0.994 0.707 0.574 0.607 0.714 . 5.210 4.280 4.481 0.169 0.676 1.000 0.960 0.973 664 . . . . YAP1 69 0 36 8 0.181818181818182 TRUE TRUE +ENSG00000231738.11 . BCM GRCh38.p13 chr12 85015898 85015898 + A A - Nonsense_Mutation SNP ENST00000532498.7 exon8 c.668delT p.L223* exonic ENSG00000231738.11 . stopgain ENSG00000231738.11:ENST00000532498.7:exon8:c.668delT:p.L223* 12q21.31 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPAN19 72 0 68 12 0.15 TRUE TRUE +ENSG00000177192.14 . BCM GRCh38.p13 chr12 131930046 131930046 + G G T Missense_Mutation SNP ENST00000376649.8 exon2 c.G214T p.G72C exonic ENSG00000177192.14 . nonsynonymous SNV ENSG00000177192.14:ENST00000376649.8:exon2:c.G214T:p.G72C 12q24.33 C3N-00305 . . . . . . . . . 4.20 D D D P U N L T N 0.152 T T D 0.146 0.290 0.356 0.307 T T T T T T 0.529 6.807 0.881 N N -0.961 0.447 -1.171 0.308 1.000 0.733 0.522 0.522 0.622 . 3.930 -3.020 -1.198 -0.225 -0.808 0.000 0.001 0.001 976 . . . . PUS1 18 0 80 9 0.101123595505618 TRUE TRUE +ENSG00000133110.15 . BCM GRCh38.p13 chr13 37598661 37598661 + G G T Missense_Mutation SNP ENST00000379747.9 exon1 c.C66A p.N22K exonic ENSG00000133110.15 . nonsynonymous SNV ENSG00000133110.15:ENST00000379747.9:exon1:c.C66A:p.N22K 13q13.3 C3N-00305 . . . . . . . . . 6.20 T T B B D N L D N 0.483 T T D 0.196 0.334 0.701 0.211 T T T T T D 0.547 6.989 0.625 D D -0.746 0.737 -0.714 0.879 1.000 0.615 0.574 0.507 0.655 . 5.700 -1.430 0.685 -1.112 -0.102 0.997 0.004 0.673 481 . . . . POSTN 161 0 127 18 0.124137931034483 TRUE TRUE +ENSG00000092020.10 . BCM GRCh38.p13 chr14 35095105 35095105 + C C T Missense_Mutation SNP ENST00000261475.9 exon10 c.G918A p.M306I exonic ENSG00000092020.10 . nonsynonymous SNV ENSG00000092020.10:ENST00000261475.9:exon10:c.G918A:p.M306I 14q13.2 C3N-00305 . . . . . . . . . 7.20 D D B B D D N T N 0.455 T T T 0.048 0.431 0.532 0.445 T T T T D D 2.890 23.200 0.981 D N -0.251 1.739 -0.064 2.153 0.004 0.706 0.725 0.710 0.714 . 5.250 4.360 1.124 1.015 0.599 1.000 1.000 0.999 718 . . . . PPP2R3C 140 0 100 13 0.115044247787611 TRUE TRUE +ENSG00000179364.13 . BCM GRCh38.p13 chr14 105367363 105367363 + G G A Missense_Mutation SNP ENST00000325438.12 exon5 c.G574A p.A192T exonic ENSG00000179364.13 . nonsynonymous SNV ENSG00000179364.13:ENST00000325438.12:exon5:c.G574A:p.A192T 14q32.33 C3N-00305 . . . . . . . . . 0.20 T T B B N N N T N 0.122 T T T 0.047 0.142 0.082 . T T T T T T 1.602 16.390 0.975 N N -0.886 0.538 -0.766 0.806 0.002 0.706 0.710 0.723 0.714 . 4.370 -2.080 1.608 -0.185 -0.169 1.000 0.993 0.838 976 . . . . PACS2 79 0 79 9 0.102272727272727 TRUE TRUE +ENSG00000182256.13 . BCM GRCh38.p13 chr15 27527576 27527576 + C C G Missense_Mutation SNP ENST00000615808.5 exon8 c.C1009G p.L337V exonic ENSG00000182256.13 . nonsynonymous SNV ENSG00000182256.13:ENST00000615808.5:exon8:c.C1009G:p.L337V 15q12 C3N-00305 . . . . . . . . . 7.17 . T D D D D N . . 0.453 T T T 0.456 0.599 0.487 1.518 T T T T D D 2.926 23.300 0.987 D N 0.071 2.775 0.160 2.996 0.998 0.526 0.616 0.441 0.584 . 5.480 4.570 2.435 1.026 0.599 0.983 0.992 0.985 987 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . GABRG3 172 0 169 34 0.167487684729064 TRUE TRUE +ENSG00000103995.14 . BCM GRCh38.p13 chr15 48738856 48738856 + C C T Missense_Mutation SNP ENST00000380950.7 exon27 c.G4526A p.R1509K exonic ENSG00000103995.14 . nonsynonymous SNV ENSG00000103995.14:ENST00000380950.7:exon27:c.G4526A:p.R1509K 15q21.1 C3N-00305 . . . . . . . . . 2.18 D T . . N N M T N 0.209 T T T 0.074 - 0.563 0.068 T T T T T T 0.561 7.131 0.990 N N -0.697 0.818 -0.690 0.915 0.975 0.707 0.725 0.696 0.636 . 5.200 3.250 1.274 1.026 0.599 0.004 0.247 0.080 264 . . . . CEP152 259 0 226 34 0.130769230769231 TRUE TRUE +ENSG00000156218.13 . BCM GRCh38.p13 chr15 83704401 83704401 + A A - Frame_Shift_Del DEL ENST00000286744.10 exon3 c.82delA p.K28Nfs*76 exonic ENSG00000156218.13 . frameshift deletion ENSG00000156218.13:ENST00000286744.10:exon3:c.82delA:p.K28Nfs*76 15q25.2 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTSL3 184 0 135 30 0.181818181818182 TRUE TRUE +ENSG00000167716.18 . BCM GRCh38.p13 chr17 1732459 1732460 + TC TC - Frame_Shift_Del DEL ENST00000409644.5 exon5 c.4292_4293del p.F1432Lfs*5 exonic ENSG00000167716.18 . frameshift deletion ENSG00000167716.18:ENST00000409644.5:exon5:c.4292_4293del:p.F1432Lfs*5 17p13.3 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR81 129 1 100 9 0.0825688073394495 NA TRUE +ENSG00000130300.9 . BCM GRCh38.p13 chr19 17377252 17377252 + G G C Missense_Mutation SNP ENST00000252590.9 exon1 c.C37G p.R13G exonic ENSG00000130300.9 . nonsynonymous SNV ENSG00000130300.9:ENST00000252590.9:exon1:c.C37G:p.R13G 19p13.11 C3N-00305 . . . . . . . . . 8.19 D D D D N N M . D 0.250 T T D 0.196 0.740 0.134 1.016 T T T T D T 2.754 22.900 0.991 N N -0.133 2.073 -0.318 1.528 1.000 0.554 0.588 0.578 0.568 . 3.940 2.880 1.571 1.146 0.676 0.172 0.004 0.012 739 . . . . PLVAP 100 0 71 11 0.134146341463415 TRUE TRUE +ENSG00000105664.11 . BCM GRCh38.p13 chr19 18786085 18786085 + C C A Nonsense_Mutation SNP ENST00000222271.7 exon13 c.G1369T p.E457X exonic ENSG00000105664.11 . stopgain ENSG00000105664.11:ENST00000222271.7:exon13:c.G1369T:p.E457X 19p13.11 C3N-00305 . . . . . . . . . 4.6 . . . . U A . . . 0.843 . . . . . . . . . D D . . 6.504 36 0.988 D N 0.328 3.929 0.054 2.555 0.997 0.598 0.578 0.615 0.639 . 3.950 0.250 1.263 -0.303 -0.331 1.000 0.202 0.185 862 . . . . COMP 424 0 418 35 0.0772626931567329 TRUE TRUE +ENSG00000126461.15 . BCM GRCh38.p13 chr19 49657785 49657785 + G G T Nonsense_Mutation SNP ENST00000360565.8 exon10 c.G3643T p.E1215X exonic ENSG00000126461.15 . stopgain ENSG00000126461.15:ENST00000360565.8:exon10:c.G3643T:p.E1215X 19q13.33 C3N-00305 . . . . . . . . . 5.6 . . . . D A . . . 0.361 . . . . . . . . . D D . . 9.056 47 0.997 D N 1.181 22.156 1.030 20.834 1.000 0.672 0.702 0.269 0.711 . 5.200 5.200 8.181 1.166 0.665 1.000 1.000 0.998 809 . . . . SCAF1 111 0 113 20 0.150375939849624 TRUE TRUE +ENSG00000198131.14 . BCM GRCh38.p13 chr19 58261379 58261379 + G G - Frame_Shift_Del DEL ENST00000269829.5 exon4 c.773delG p.C258Ffs*9 exonic ENSG00000198131.14 . frameshift deletion ENSG00000198131.14:ENST00000269829.5:exon4:c.773delG:p.C258Ffs*9 19q13.43 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF544 148 0 97 13 0.118181818181818 TRUE TRUE +ENSG00000125869.10 . BCM GRCh38.p13 chr20 9516326 9516326 + C C T Missense_Mutation SNP ENST00000246070.3 exon4 c.C440T p.S147F exonic ENSG00000125869.10 . nonsynonymous SNV ENSG00000125869.10:ENST00000246070.3:exon4:c.C440T:p.S147F 20p12.2 C3N-00305 . . . . . . . . . 10.20 D D D P D D L T N 0.423 T T D 0.153 0.517 0.341 0.326 T T T T D D 3.558 24.900 0.999 D D 0.352 4.058 0.428 4.560 1.000 0.765 0.851 0.641 0.767 . 5.980 5.980 3.451 1.026 0.549 1.000 0.273 0.505 650 . . . ID=COSV55716920;OCCURENCE=1(skin) LAMP5 288 0 234 35 0.130111524163569 TRUE TRUE +ENSG00000198547.9 . BCM GRCh38.p13 chr20 32650619 32650619 + C C A Missense_Mutation SNP ENST00000608990.6 exon4 c.G398T p.G133V exonic ENSG00000198547.9 . nonsynonymous SNV ENSG00000198547.9:ENST00000608990.6:exon4:c.G398T:p.G133V 20q11.21 C3N-00305 . . . . . . . . . 0.3 . . . . . . N . . . . . . . . . . . T . . . . 1.328 14.590 0.771 N . . . . . 1.000 0.057 0.061 0.074 0.057 0.103 3.670 -7.340 0.717 -0.058 0.469 0.020 0.001 0.005 293 . . . . C20orf203 99 0 75 14 0.157303370786517 TRUE NA +ENSG00000170471.15 . BCM GRCh38.p13 chr20 38553973 38553973 + C C A Missense_Mutation SNP ENST00000262879.11 exon22 c.C3269A p.P1090H exonic ENSG00000170471.15 . nonsynonymous SNV ENSG00000170471.15:ENST00000262879.11:exon22:c.C3269A:p.P1090H 20q11.23 C3N-00305 2.473e-05 0 0 0 0 4.496e-05 0 0 rs372998383 16.20 D T D D D D L D D 0.758 D D D 0.546 . 0.576 1.385 T T D D D D 3.955 26.700 0.997 D D 0.792 8.623 0.800 10.124 1.000 0.732 0.725 0.744 0.714 . 5.820 5.820 7.568 1.026 0.599 1.000 0.993 0.989 868 . . . . RALGAPB 312 1 258 61 0.191222570532915 TRUE NA +ENSG00000101958.14 . BCM GRCh38.p13 chrX 14609133 14609133 + G G C Missense_Mutation SNP ENST00000218075.9 exon7 c.G858C p.R286S exonic ENSG00000101958.14 . nonsynonymous SNV ENSG00000101958.14:ENST00000218075.9:exon7:c.G858C:p.R286S Xp22.2 C3N-00305 . . . . . . . . . 19.19 D D D D D D H D D 0.984 D D D 0.869 0.900 1.000 2.368 D D D D D D 3.069 23.600 0.997 D . . . . . 0.000 . . . . . 5.400 -0.461 0.925 1.176 0.676 1.000 1.000 0.998 341 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . GLRA2 234 0 207 36 0.148148148148148 TRUE TRUE +ENSG00000102290.22 . BCM GRCh38.p13 chrX 91878441 91878441 + C C G Missense_Mutation SNP ENST00000373094.5 exon2 c.C2201G p.T734R exonic ENSG00000102290.22 . nonsynonymous SNV ENSG00000102290.22:ENST00000373094.5:exon2:c.C2201G:p.T734R Xq21.31 C3N-00305 . . . . . . . . . 12.19 D D P D D D L T D 0.730 T T D 0.350 0.645 0.855 2.386 T T D D D D 2.278 21.400 0.947 D . . . . . 0.077 . . . . . 5.180 4.310 5.950 0.079 -0.231 1.000 0.509 0.033 974 Cadherin-like . . . PCDH11X 276 1 200 16 0.0740740740740741 NA TRUE +ENSG00000172167.8 . BCM GRCh38.p13 chr8 120470818 120470818 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000172167.8 ENST00000305949.6:exon11:c.1048-2A>T . . 8q24.12 C3N-00305 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.843 33 0.993 D . 1.012 14.320 0.839 11.369 0.657 0.089 0.097 0.121 0.093 0.963 5.090 5.090 6.140 1.277 0.743 1.000 0.960 0.789 727 . . . . MTBP 76 0 47 4 0.0784313725490196 TRUE TRUE +ENSG00000168811.7 . BCM GRCh38.p13 chr3 159990246 159990246 + A A C Silent SNP ENST00000305579.7 exon2 c.A198C p.P66P exonic ENSG00000168811.7 . synonymous SNV ENSG00000168811.7:ENST00000305579.7:exon2:c.A198C:p.P66P 3q25.33 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL12A 179 0 132 19 0.125827814569536 TRUE TRUE +ENSG00000164736.6 . BCM GRCh38.p13 chr8 54459659 54459659 + C C T Silent SNP ENST00000297316.5 exon2 c.C909T p.P303P exonic ENSG00000164736.6 . synonymous SNV ENSG00000164736.6:ENST00000297316.5:exon2:c.C909T:p.P303P 8q11.23 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOX17 154 0 104 20 0.161290322580645 TRUE TRUE +ENSG00000214929.4 . BCM GRCh38.p13 chr9 81990956 81990956 + G G A Silent SNP ENST00000344803.3 exon4 c.G486A p.S162S exonic ENSG00000214929.4 . synonymous SNV ENSG00000214929.4:ENST00000344803.3:exon4:c.G486A:p.S162S 9q21.32 C3N-00305 2.484e-05 0 8.639e-05 0 0 2.997e-05 0 0 rs575416308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61194177;OCCURENCE=1(large_intestine),1(pancreas),1(upper_aerodigestive_tract) SPATA31D1 431 1 357 85 0.192307692307692 NA TRUE +ENSG00000165478.7 . BCM GRCh38.p13 chr11 124921366 124921366 + G G T Silent SNP ENST00000298251.5 exon7 c.C1023A p.S341S exonic ENSG00000165478.7 . synonymous SNV ENSG00000165478.7:ENST00000298251.5:exon7:c.C1023A:p.S341S 11q24.2 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HEPACAM 9 0 47 8 0.145454545454545 TRUE TRUE +ENSG00000174450.12 . BCM GRCh38.p13 chr15 23439811 23439811 + T T C Silent SNP ENST00000567107.6 exon8 c.A2664G p.G888G exonic ENSG00000174450.12 . synonymous SNV ENSG00000174450.12:ENST00000567107.6:exon8:c.A2664G:p.G888G 15q11.2 C3N-00305 . . . . . . . . . 1.11 . D . . . N . . . 0.036 T T T 0.022 . 0.040 . . . T T T T 0.316 4.475 0.966 N N -1.014 0.389 -1.254 0.241 0.000 0.487 0.574 0.547 0.564 . . . -0.137 0.358 0.379 0.000 0.040 0.030 994 . . . . GOLGA6L2 179 0 133 17 0.113333333333333 TRUE TRUE +ENSG00000198838.13 . BCM GRCh38.p13 chr15 33857875 33857875 + C C T Silent SNP ENST00000634891.1 exon99 c.C14103T p.D4701D exonic ENSG00000198838.13 . synonymous SNV ENSG00000198838.13:ENST00000634891.1:exon99:c.C14103T:p.D4701D 15q14 C3N-00305 0.0002 0.0001 0 0 0 1.5e-05 0 0.0015 rs202170755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66791613;OCCURENCE=1(large_intestine),1(stomach) RYR3 206 0 154 26 0.144444444444444 TRUE TRUE +ENSG00000140323.6 . BCM GRCh38.p13 chr15 40368333 40368333 + C C A Silent SNP ENST00000267889.5 exon8 c.C2221A p.R741R exonic ENSG00000140323.6 . synonymous SNV ENSG00000140323.6:ENST00000267889.5:exon8:c.C2221A:p.R741R 15q15.1 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DISP2 107 0 48 9 0.157894736842105 TRUE NA +ENSG00000128915.12 . BCM GRCh38.p13 chr15 60449374 60449374 + A A T Silent SNP ENST00000261520.9 exon10 c.T1593A p.T531T exonic ENSG00000128915.12 . synonymous SNV ENSG00000128915.12:ENST00000261520.9:exon10:c.T1593A:p.T531T 15q22.2 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ICE2 215 0 129 9 0.0652173913043478 NA TRUE +ENSG00000048471.14 . BCM GRCh38.p13 chr16 12027386 12027386 + G G A Silent SNP ENST00000566228.6 exon4 c.G189A p.L63L exonic ENSG00000048471.14 . synonymous SNV ENSG00000048471.14:ENST00000566228.6:exon4:c.G189A:p.L63L 16p13.13 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX29 237 0 176 32 0.153846153846154 TRUE TRUE +ENSG00000172794.20 . BCM GRCh38.p13 chr17 74740839 74740839 + G G A Silent SNP ENST00000392613.10 exon2 c.G165A p.L55L exonic ENSG00000172794.20 . synonymous SNV ENSG00000172794.20:ENST00000392613.10:exon2:c.G165A:p.L55L 17q25.1 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB37 156 0 134 19 0.124183006535948 TRUE TRUE +ENSG00000211682.2 . BCM GRCh38.p13 chr22 22918137 22918137 + G G T Silent SNP ENST00000390328.2 exon1 c.G6T p.G2G exonic ENSG00000211682.2 . synonymous SNV ENSG00000211682.2:ENST00000390328.2:exon1:c.G6T:p.G2G 22q11.22 C3N-00305 6.83e-05 0 0 0 0 0 0 0.0001 rs755956997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLJ6 182 0 178 32 0.152380952380952 TRUE NA +ENSG00000100365.16 . BCM GRCh38.p13 chr22 36867399 36867399 + C C A Silent SNP ENST00000248899.11 exon4 c.C279A p.V93V exonic ENSG00000100365.16 . synonymous SNV ENSG00000100365.16:ENST00000248899.11:exon4:c.C279A:p.V93V 22q12.3 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCF4 475 2 432 77 0.151277013752456 TRUE TRUE +ENSG00000102001.13 . BCM GRCh38.p13 chrX 49212772 49212772 + A A T Silent SNP ENST00000376265.2 exon33 c.T3870A p.I1290I exonic ENSG00000102001.13 . synonymous SNV ENSG00000102001.13:ENST00000376265.2:exon33:c.T3870A:p.I1290I Xp11.23 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1F 299 0 251 52 0.171617161716172 TRUE TRUE +ENSG00000237838.1 . BCM GRCh38.p13 chr3 25174515 25174515 + C C A 3'Flank SNP NA NA NA NA downstream ENSG00000237838.1 dist=210 . . 3p24.2 C3N-00305 . . . . . . . . . 5.15 D T . . . N . D N . T D D 0.212 0.358 0.589 . . T T T T T 1.445 15.380 0.955 D N -0.231 1.792 -0.101 2.044 0.000 0.487 0.574 0.547 0.564 . 5.880 2.320 0.573 1.026 0.599 0.970 0.995 0.969 914 . . . . AC092422.1 205 0 140 15 0.0967741935483871 TRUE NA +ENSG00000047849.21 . BCM GRCh38.p13 chr3 47910732 47910732 + G G - Intron SNP NA NA NA NA intronic ENSG00000047849.21 . . . 3p21.31 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP4 216 0 127 21 0.141891891891892 TRUE TRUE +ENSG00000196549.11 . BCM GRCh38.p13 chr3 155089837 155089837 + T T C Intron SNP NA NA NA NA intronic ENSG00000196549.11 . . . 3q25.2 C3N-00305 . . . . . . . . . 1.14 D T . . . N . . N 0.330 T T T 0.029 0.259 0.226 . . T T T T T 0.220 3.353 0.576 N N -0.715 0.787 -0.966 0.532 0.990 0.554 0.574 0.618 0.621 . 0.235 0.235 -0.177 0.557 0.502 0.006 0.002 0.004 839 . . . . MME 77 0 46 8 0.148148148148148 TRUE TRUE +ENSG00000025796.14 . BCM GRCh38.p13 chr6 107903034 107903052 + ACTTTTTACATGTTCAGGA ACTTTTTACATGTTCAGGA - Intron DEL NA NA NA NA intronic ENSG00000025796.14 . . . 6q21 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC63 299 0 227 32 0.123552123552124 TRUE NA +ENSG00000158169.13 . BCM GRCh38.p13 chr9 95111307 95111307 + G G A Intron SNP NA NA NA NA intronic ENSG00000158169.13 . . . 9q22.32 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FANCC 149 0 121 19 0.135714285714286 TRUE TRUE +ENSG00000123388.4 . BCM GRCh38.p13 chr12 53975581 53975581 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000123388.4 ENST00000546378.1:c.*168C>A . . 12q13.13 C3N-00305 . . . . . . . . . 1.14 D . . . . N . T N 0.145 T T T 0.035 0.292 0.510 . . T T T T T 1.204 13.670 0.750 N N -0.305 1.601 -0.420 1.336 1.000 0.598 0.596 0.616 0.530 . 4.520 2.160 1.257 0.014 0.594 0.054 0.010 0.096 210 . . . . HOXC11 70 0 67 9 0.118421052631579 TRUE TRUE +ENSG00000286759.1 . BCM GRCh38.p13 chr16 81156909 81156909 + C C A IGR SNP NA NA NA NA intergenic ENSG00000286759.1;ENSG00000166473.17 dist=2933;dist=13380 . . 16q23.2 C3N-00305 8.326e-06 0 0 0 0 1.507e-05 0 0 rs375813573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092718.9 272 0 189 40 0.174672489082969 TRUE NA +ENSG00000131037.15 . BCM GRCh38.p13 chr19 55083594 55083594 + C C T Intron SNP NA NA NA NA intronic ENSG00000131037.15 . . . 19q13.42 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52385842;OCCURENCE=1(skin) EPS8L1 149 0 125 20 0.137931034482759 TRUE TRUE +ENSG00000100201.22 . BCM GRCh38.p13 chr22 38490388 38490388 + G G A Intron SNP NA NA NA NA intronic ENSG00000100201.22 . . . 22q13.1 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDX17 257 0 197 33 0.143478260869565 TRUE NA +ENSG00000128165.9 . BCM GRCh38.p13 chr22 50482922 50482922 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000128165.9 ENST00000395737.2:c.*19C>G . . 22q13.33 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADM2 159 0 135 27 0.166666666666667 TRUE NA +ENSG00000215915.10 . BCM GRCh38.p13 chr1 1459175 1459176 + GG GG TT Unknown MNP ENST00000378785.7 exon9 c.756_757delinsTT p.E252_D253delinsDY exonic ENSG00000215915.10 . nonframeshift substitution ENSG00000215915.10:ENST00000378785.7:exon9:c.756_757delinsTT:p.E252_D253delinsDY 1p36.33 C3N-00305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATAD3C 153 0 106 14 0.116666666666667 NA TRUE +ENSG00000162669.16 . BCM GRCh38.p13 chr1 91352585 91352585 + A A G Missense_Mutation SNP ENST00000370425.8 exon16 c.T1898C p.M633T exonic ENSG00000162669.16 . nonsynonymous SNV ENSG00000162669.16:ENST00000370425.8:exon16:c.T1898C:p.M633T 1p22.2 C3N-00310 . . . . . . . . . 6.20 T T B B U D N T N 0.810 T T T 0.442 0.615 0.331 0.279 T T D D D T 3.091 23.600 0.960 D D 0.315 3.859 0.422 4.521 0.137 0.554 0.574 0.618 0.621 . 5.900 4.760 9.324 1.312 0.754 1.000 0.999 1.000 565 Helicase,_C-terminal . . . HFM1 76 0 54 26 0.325 TRUE TRUE +ENSG00000116793.16 . BCM GRCh38.p13 chr1 113706138 113706138 + C C T Missense_Mutation SNP ENST00000369604.6 exon13 c.G1423A p.G475S exonic ENSG00000116793.16 . nonsynonymous SNV ENSG00000116793.16:ENST00000369604.6:exon13:c.G1423A:p.G475S 1p13.2 C3N-00310 . . . . . . . . . 10.19 D D B B D D L . N 0.552 T T T 0.331 0.801 0.105 0.162 T T D D D D 2.501 22.400 0.993 D D 0.147 3.075 0.307 3.758 1.000 0.732 0.744 0.710 0.714 . 5.540 5.540 4.406 1.026 0.549 1.000 1.000 0.997 640 . . . . PHTF1 61 0 56 33 0.370786516853933 TRUE TRUE +ENSG00000132688.11 . BCM GRCh38.p13 chr1 156670542 156670542 + G G T Missense_Mutation SNP ENST00000368223.4 exon4 c.C3646A p.P1216T exonic ENSG00000132688.11 . nonsynonymous SNV ENSG00000132688.11:ENST00000368223.4:exon4:c.C3646A:p.P1216T 1q23.1 C3N-00310 . . . . . . . . . 3.19 T T B B . N M D N 0.079 T T D 0.157 0.358 0.524 0.066 T T T T T T 0.150 2.577 0.707 N N -1.195 0.231 -1.292 0.214 1.000 0.722 0.610 0.699 0.646 . 3.710 -1.540 -0.661 -1.983 -1.027 0.000 0.000 0.001 740 . . . . NES 49 0 49 24 0.328767123287671 TRUE TRUE +ENSG00000143178.13 . BCM GRCh38.p13 chr1 168312812 168312812 + C C A Missense_Mutation SNP ENST00000367821.8 exon8 c.C1157A p.P386Q exonic ENSG00000143178.13 . nonsynonymous SNV ENSG00000143178.13:ENST00000367821.8:exon8:c.C1157A:p.P386Q 1q24.2 C3N-00310 . . . . . . . . . 6.20 D T B B N N M D N 0.226 T D D 0.150 0.265 0.753 0.298 T T T T D T 2.084 19.900 0.977 N N -0.415 1.350 -0.395 1.382 0.993 0.653 0.659 0.653 0.568 . 5.100 5.100 2.179 1.026 0.599 0.028 0.022 0.245 940 . . . . TBX19 467 1 361 171 0.321428571428571 TRUE TRUE +ENSG00000143153.13 . BCM GRCh38.p13 chr1 169125031 169125031 + - NA T Frame_Shift_Ins INS ENST00000367815.9 exon3 c.375dupT p.C126Lfs*7 exonic ENSG00000143153.13 . frameshift insertion ENSG00000143153.13:ENST00000367815.9:exon3:c.375dupT:p.C126Lfs*7 1q24.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP1B1 NA NA NA NA NA NA NA +ENSG00000162753.13 . BCM GRCh38.p13 chr1 173524867 173524867 + C C T Missense_Mutation SNP ENST00000367714.4 exon20 c.G2426A p.R809Q exonic ENSG00000162753.13 . nonsynonymous SNV ENSG00000162753.13:ENST00000367714.4:exon20:c.G2426A:p.R809Q 1q25.1 C3N-00310 4.947e-05 0 0 0 0 0 0 0.0004 rs764739922 1.20 T D B B N N L T N 0.315 T T T 0.051 0.556 0.081 0.285 T T T T T T 0.991 11.510 0.937 N N -0.777 0.689 -0.845 0.696 0.018 0.487 0.574 0.547 0.542 . 5.800 -0.830 -0.197 0.126 0.549 0.086 0.927 0.610 389 . . . . SLC9C2 139 1 161 49 0.233333333333333 TRUE NA +ENSG00000143344.15 . BCM GRCh38.p13 chr1 183926206 183926206 + A A G Missense_Mutation SNP ENST00000360851.3 exon18 c.A2221G p.K741E exonic ENSG00000143344.15 . nonsynonymous SNV ENSG00000143344.15:ENST00000360851.3:exon18:c.A2221G:p.K741E 1q25.3 C3N-00310 . . . . . . . . . 8.20 D D B B D D L T N 0.190 T T T 0.105 0.306 0.366 0.474 T T T T D D 3.149 23.700 0.997 D D -0.127 2.091 0.015 2.410 0.999 0.707 0.725 0.653 0.714 . 5.370 4.210 4.280 1.312 0.756 1.000 0.998 0.991 813 . . . . RGL1 166 0 142 56 0.282828282828283 TRUE TRUE +ENSG00000153207.16 . BCM GRCh38.p13 chr1 246888422 246888422 + G G A Missense_Mutation SNP ENST00000648844.2 exon18 c.C2240T p.T747I exonic ENSG00000153207.16 . nonsynonymous SNV ENSG00000153207.16:ENST00000648844.2:exon18:c.C2240T:p.T747I 1q44 C3N-00310 . . . . . . . . . 13.20 D D D D D D M T D 0.467 T T D 0.351 0.282 0.331 0.919 T T T T D D 4.065 27.500 0.999 D D 0.717 7.368 0.695 7.664 1.000 0.372 0.546 0.487 0.492 . 5.260 5.260 7.587 1.176 0.613 1.000 1.000 0.991 761 ELYS-like_domain . . . AHCTF1 130 0 110 55 0.333333333333333 TRUE TRUE +ENSG00000032389.12 . BCM GRCh38.p13 chr2 3257392 3257392 + C C A Missense_Mutation SNP ENST00000382125.8 exon4 c.G323T p.G108V exonic ENSG00000032389.12 . nonsynonymous SNV ENSG00000032389.12:ENST00000382125.8:exon4:c.G323T:p.G108V 2p25.3 C3N-00310 . . . . . . . . . 12.19 D D B B D D . D N 0.584 T D D 0.482 0.192 0.903 0.572 T T D D D T 1.951 18.880 0.997 D D 0.039 2.654 0.165 3.015 1.000 0.840 0.723 0.737 0.613 . 5.440 4.530 3.999 1.000 0.599 1.000 0.998 1.000 921 . . . . EIPR1 198 0 128 60 0.319148936170213 TRUE TRUE +ENSG00000157851.17 . BCM GRCh38.p13 chr2 26898528 26898528 + T T A Missense_Mutation SNP ENST00000288699.11 exon2 c.T29A p.I10N exonic ENSG00000157851.17 . nonsynonymous SNV ENSG00000157851.17:ENST00000288699.11:exon2:c.T29A:p.I10N 2p23.3 C3N-00310 . . . . . . . . . 20.20 D D D D D D M D D 0.950 D D D 0.926 0.766 0.830 2.521 D D D D D D 4.114 27.900 0.994 D D 0.806 8.901 0.719 8.114 1.000 0.737 0.574 0.733 0.530 . 4.610 4.610 7.650 1.138 0.665 1.000 0.999 0.994 688 . . . . DPYSL5 137 0 115 61 0.346590909090909 TRUE TRUE +ENSG00000008869.12 . BCM GRCh38.p13 chr2 37041156 37041156 + C C T Missense_Mutation SNP ENST00000233099.6 exon19 c.G2833A p.D945N exonic ENSG00000008869.12 . nonsynonymous SNV ENSG00000008869.12:ENST00000233099.6:exon19:c.G2833A:p.D945N 2p22.2 C3N-00310 . . . . . . . . . 18.20 D D D D D D M T D 0.939 D D D 0.591 0.507 0.780 1.292 D D D T D D 4.105 27.800 0.999 D D 0.942 12.180 0.887 13.192 1.000 0.732 0.744 0.710 0.714 . 5.450 5.450 7.816 1.026 0.599 1.000 1.000 0.999 814 . . . . HEATR5B 124 0 103 67 0.394117647058824 TRUE TRUE +ENSG00000114956.20 . BCM GRCh38.p13 chr2 73946767 73946767 + G G T Nonsense_Mutation SNP ENST00000264093.9 exon3 c.G304T p.E102X exonic ENSG00000114956.20 . stopgain ENSG00000114956.20:ENST00000264093.9:exon3:c.G304T:p.E102X 2p13.1 C3N-00310 . . . . . . . . . 6.6 . . . . D A . . . 0.844 . . . . . . . . . D D . . 6.819 36 0.997 D D 0.874 10.391 0.710 7.949 1.000 0.707 0.725 0.725 0.714 . 5.680 3.780 2.408 0.224 0.676 0.999 0.950 0.928 549 Deoxynucleoside_kinase_domain . . . DGUOK 361 2 306 167 0.353065539112051 TRUE TRUE +ENSG00000163075.13 . BCM GRCh38.p13 chr2 119549141 119549146 + CATTTT CATTTT - In_Frame_Del DEL ENST00000413369.8 exon3 c.196_201del p.H66_F67del exonic ENSG00000163075.13 . nonframeshift deletion ENSG00000163075.13:ENST00000413369.8:exon3:c.196_201del:p.H66_F67del 2q14.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP221 60 0 65 13 0.166666666666667 TRUE TRUE +ENSG00000198586.14 . BCM GRCh38.p13 chr2 171055135 171055135 + A A C Missense_Mutation SNP ENST00000431350.7 exon7 c.T587G p.F196C exonic ENSG00000198586.14 . nonsynonymous SNV ENSG00000198586.14:ENST00000431350.7:exon7:c.T587G:p.F196C 2q31.1 C3N-00310 . . . . . . . . rs1021006550 11.20 T T D P D D L T D 0.824 T T D 0.279 0.144 0.619 1.530 T T D D D D 3.584 25.000 0.991 D D 0.492 4.975 0.502 5.180 1.000 0.732 0.744 0.744 0.728 . 5.500 4.330 8.545 1.312 0.688 1.000 1.000 0.997 819 . . . . TLK1 80 0 52 31 0.373493975903614 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178607595 178607595 + C C T Missense_Mutation SNP ENST00000591111.5 exon227 c.G48170A p.G16057D exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon227:c.G48170A:p.G16057D 2q31.2 C3N-00310 . . . . . . . . . 13.17 D . D D . D H T D 0.843 D D T 0.718 0.940 0.703 0.527 T . D D T D 3.113 23.700 0.902 D D 1.063 16.047 0.979 17.592 1.000 0.554 0.546 0.602 0.621 . 5.990 5.990 7.520 1.026 0.599 1.000 0.997 0.990 415 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin_subtype . . . TTN 333 1 384 192 0.333333333333333 TRUE TRUE +ENSG00000135900.4 . BCM GRCh38.p13 chr2 223966889 223966889 + C C T Missense_Mutation SNP ENST00000258383.4 exon4 c.C854T p.P285L exonic ENSG00000135900.4 . nonsynonymous SNV ENSG00000135900.4:ENST00000258383.4:exon4:c.C854T:p.P285L 2q36.1 C3N-00310 . . . . . . . . . 11.20 T D D P D D M T N 0.582 T T D 0.141 0.443 0.626 0.356 T T D T D D 3.897 26.300 0.991 D D 0.570 5.635 0.632 6.650 1.000 0.719 0.725 0.725 0.734 . 5.880 5.880 7.422 1.018 0.542 1.000 1.000 0.995 926 Double-stranded_RNA-binding_domain . . . MRPL44 75 0 53 36 0.404494382022472 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609654 52609655 + CT CT - Frame_Shift_Del DEL ENST00000296302.11 exon16 c.2225_2226del p.E742Vfs*16 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon16:c.2225_2226del:p.E742Vfs*16 3p21.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 68 0 36 26 0.419354838709677 TRUE TRUE +ENSG00000163947.11 . BCM GRCh38.p13 chr3 56751061 56751061 + C C G Missense_Mutation SNP ENST00000296315.7 exon6 c.G607C p.G203R exonic ENSG00000163947.11 . nonsynonymous SNV ENSG00000163947.11:ENST00000296315.7:exon6:c.G607C:p.G203R 3p14.3 C3N-00310 . . . . . . . . . 5.20 T T P B D D N T N 0.503 T T T 0.102 0.347 0.618 1.528 T T T T D D 2.414 22.100 0.991 D N 0.032 2.627 0.198 3.175 1.000 0.615 0.546 0.659 0.636 . 5.560 5.560 1.799 1.026 0.599 0.971 1.000 1.000 452 Dbl_homology_(DH)_domain . . . ARHGEF3 161 0 62 62 0.5 TRUE TRUE +ENSG00000004399.12 . BCM GRCh38.p13 chr3 129606390 129606390 + C C T Missense_Mutation SNP ENST00000324093.8 exon1 c.G250A p.G84S exonic ENSG00000004399.12 . nonsynonymous SNV ENSG00000004399.12:ENST00000324093.8:exon1:c.G250A:p.G84S 3q22.1 C3N-00310 . . . . . . . . . 2.20 T T B B N N N T N 0.077 T T D 0.056 0.542 0.405 1.162 D T T T T T 2.139 20.400 0.990 N N -0.398 1.388 -0.303 1.558 1.000 0.652 0.596 0.641 0.562 . 3.080 2.160 1.290 0.028 0.446 0.251 0.980 0.998 554 Sema_domain . . . PLXND1 73 0 48 29 0.376623376623377 TRUE TRUE +ENSG00000174640.15 . BCM GRCh38.p13 chr3 133948615 133948615 + A A C Missense_Mutation SNP ENST00000310926.11 exon8 c.T1026G p.I342M exonic ENSG00000174640.15 . nonsynonymous SNV ENSG00000174640.15:ENST00000310926.11:exon8:c.T1026G:p.I342M 3q22.1 C3N-00310 . . . . . . . . . 11.20 D D D D D D M T N 0.889 T T D 0.456 0.624 0.282 0.542 T T D T D D 1.468 15.530 0.913 N N -0.679 0.848 -1.020 0.464 1.000 0.653 0.590 0.659 0.669 . 5.310 -10.600 -1.805 -0.086 -0.065 0.001 0.976 0.994 713 Major_facilitator_superfamily_domain . . . SLCO2A1 156 0 101 45 0.308219178082192 TRUE TRUE +ENSG00000121879.5 . BCM GRCh38.p13 chr3 179234297 179234297 + A A G Missense_Mutation SNP ENST00000263967.4 exon21 c.A3140G p.H1047R exonic ENSG00000121879.5 . nonsynonymous SNV ENSG00000121879.5:ENST00000263967.4:exon21:c.A3140G:p.H1047R 3q26.32 C3N-00310 8.317e-06 0 0 0 0 1.505e-05 0 0 rs121913279 9.20 D T P B D D N T N 0.724 T T D 0.455 0.632 0.973 2.378 D T D D T T 2.524 22.500 0.990 D D 0.220 3.395 0.420 4.503 1.000 0.707 0.725 0.659 0.714 . 6.080 6.080 8.845 0.324 0.691 1.000 0.985 0.998 808 Phosphatidylinositol_3-/4-kinase,_catalytic_domain;PI3Kalpha,_catalytic_domain . . ID=COSV55873195;OCCURENCE=27(salivary_gland),2139(breast),2(penis),1(parathyroid),18(liver),21(oesophagus),5(meninges),10(cervix),489(large_intestine),55(central_nervous_system),17(biliary_tract),1(vulva),115(ovary),13(bone),17(NS),5(haematopoietic_and_lymphoid_tissue),60(stomach),8(kidney),63(soft_tissue),49(urinary_tract),12(pancreas),8(gastrointestinal_tract_(site_indeterminate)),2(pituitary),12(skin),26(prostate),42(lung),32(thyroid),82(upper_aerodigestive_tract),1(testis),5(small_intestine),206(endometrium) PIK3CA 126 0 110 64 0.367816091954023 TRUE TRUE +ENSG00000113946.3 . BCM GRCh38.p13 chr3 190409941 190409941 + A A - Frame_Shift_Del DEL ENST00000264734.2 exon5 c.823delA p.A276Pfs*26 exonic ENSG00000113946.3 . frameshift deletion ENSG00000113946.3:ENST00000264734.2:exon5:c.823delA:p.A276Pfs*26 3q28 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLDN16 288 0 250 111 0.307479224376731 TRUE TRUE +ENSG00000109158.11 . BCM GRCh38.p13 chr4 46928559 46928559 + G G C Missense_Mutation SNP ENST00000264318.4 exon9 c.C1331G p.T444S exonic ENSG00000109158.11 . nonsynonymous SNV ENSG00000109158.11:ENST00000264318.4:exon9:c.C1331G:p.T444S 4p12 C3N-00310 . . . . . . . . . 4.20 T T B B N D L T N 0.380 T T T 0.280 0.263 0.454 0.098 T T T T D T 1.980 19.110 0.983 D D -0.100 2.175 0.148 2.942 1.000 0.554 0.457 0.618 0.530 . 5.820 5.820 6.291 1.176 0.676 1.000 0.953 0.928 584 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . GABRA4 192 0 175 87 0.33206106870229 TRUE TRUE +ENSG00000128052.10 . BCM GRCh38.p13 chr4 55081953 55081966 + TACCCAAAAGATGG TACCCAAAAGATGG - Frame_Shift_Del DEL ENST00000263923.5 exon29 c.3838_3848del p.P1280Wfs*14 exonic ENSG00000128052.10 . frameshift deletion ENSG00000128052.10:ENST00000263923.5:exon29:c.3838_3848del:p.P1280Wfs*14 4q12 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDR 234 0 203 50 0.197628458498024 TRUE TRUE +ENSG00000173610.12 . BCM GRCh38.p13 chr4 69638946 69638946 + A A C Missense_Mutation SNP ENST00000604629.5 exon1 c.T695G p.F232C exonic ENSG00000173610.12;ENSG00000271271.5 . nonsynonymous SNV ENSG00000271271.5:ENST00000604629.5:exon1:c.T695G:p.F232C,ENSG00000173610.12:ENST00000514019.1:exon3:c.T1298G:p.F433C 4q13.3 C3N-00310 . . . . . . . . . 6.14 T T . . . . . T D 0.825 T T T 0.493 0.736 0.652 . T . D D D T 3.935 26.600 0.990 D D 0.457 4.719 0.491 5.076 0.853 0.487 0.574 0.574 0.564 . 5.980 5.980 3.930 1.288 0.691 0.995 0.998 0.997 946 . . . . UGT2A1 63 0 74 44 0.372881355932203 TRUE TRUE +ENSG00000138674.17 . BCM GRCh38.p13 chr4 82867261 82867261 + G G T Missense_Mutation SNP ENST00000395310.7 exon9 c.C938A p.P313H exonic ENSG00000138674.17 . nonsynonymous SNV ENSG00000138674.17:ENST00000395310.7:exon9:c.C938A:p.P313H 4q21.22 C3N-00310 . . . . . . . . . 18.20 D D D D D D M T D 0.924 D D D 0.634 0.780 0.895 0.680 T D D D D D 4.066 27.500 0.997 D D 0.987 13.524 0.946 15.894 1.000 0.722 0.723 0.702 0.735 . 5.540 5.540 9.903 1.136 0.601 1.000 1.000 0.998 912 WD40-repeat-containing_domain . . . SEC31A 138 0 117 57 0.327586206896552 TRUE TRUE +ENSG00000198589.14 . BCM GRCh38.p13 chr4 150908749 150908749 + G G A Missense_Mutation SNP ENST00000357115.9 exon10 c.C1270T p.R424W exonic ENSG00000198589.14 . nonsynonymous SNV ENSG00000198589.14:ENST00000357115.9:exon10:c.C1270T:p.R424W 4q31.3 C3N-00310 . . . . . . . . rs945099173 15.20 D D D D D D L T D 0.815 T T D 0.526 0.440 0.704 0.563 D T D D D D 3.975 26.800 0.999 D D 0.266 3.610 0.226 3.315 1.000 0.732 0.725 0.744 0.714 . 5.380 3.590 2.210 0.203 -0.148 0.993 0.994 0.985 867 . . . . LRBA 164 0 223 72 0.24406779661017 TRUE NA +ENSG00000109586.12 . BCM GRCh38.p13 chr4 173318540 173318540 + A A C Missense_Mutation SNP ENST00000265000.9 exon11 c.A1817C p.K606T exonic ENSG00000109586.12 . nonsynonymous SNV ENSG00000109586.12:ENST00000265000.9:exon11:c.A1817C:p.K606T 4q34.1 C3N-00310 . . . . . . . . . 2.20 T T B B N D N T N 0.309 T T T 0.131 0.452 0.425 0.511 T T T T T D 2.134 20.400 0.948 N N -0.009 2.478 0.125 2.840 1.000 0.757 0.710 0.663 0.657 . 4.920 4.920 1.788 1.312 0.756 1.000 1.000 0.894 900 Ricin_B,_lectin_domain . . . GALNT7 97 0 136 46 0.252747252747253 TRUE TRUE +ENSG00000040275.17 . BCM GRCh38.p13 chr5 169588498 169588498 + T T A Missense_Mutation SNP ENST00000265295.9 exon2 c.T82A p.L28I exonic ENSG00000040275.17 . nonsynonymous SNV ENSG00000040275.17:ENST00000265295.9:exon2:c.T82A:p.L28I 5q35.1 C3N-00310 . . . . . . . . . 11.20 D D D D D D M T N 0.678 T T D 0.204 0.407 0.643 0.253 T T T T D D 3.387 24.400 0.995 D N 0.447 4.646 0.380 4.218 1.000 0.732 0.744 0.725 0.714 . 5.510 4.130 2.327 0.200 0.665 0.999 0.954 0.962 939 . . . . SPDL1 124 0 104 33 0.240875912408759 TRUE TRUE +ENSG00000204764.14 . BCM GRCh38.p13 chr5 170924373 170924373 + C C A Missense_Mutation SNP ENST00000523189.6 exon12 c.C1291A p.P431T exonic ENSG00000204764.14 . nonsynonymous SNV ENSG00000204764.14:ENST00000523189.6:exon12:c.C1291A:p.P431T 5q35.1 C3N-00310 . . . . . . . . . 16.20 D T D D D D M T D 0.855 D D D 0.542 0.433 0.827 0.220 T T D D D D 4.017 27.100 0.997 D D 0.663 6.635 0.720 8.135 1.000 0.615 0.574 0.659 0.655 . 6.050 6.050 7.786 1.026 0.599 1.000 0.994 0.998 963 . . . . RANBP17 66 1 63 27 0.3 TRUE TRUE +ENSG00000164304.16 . BCM GRCh38.p13 chr6 7373926 7373926 + G G A Missense_Mutation SNP ENST00000512086.5 exon5 c.C893T p.P298L exonic ENSG00000164304.16 . nonsynonymous SNV ENSG00000164304.16:ENST00000512086.5:exon5:c.C893T:p.P298L 6p24.3 C3N-00310 . . . . . . . . . 7.20 D D D D N N M T D 0.237 T T T 0.114 0.266 0.469 0.471 T T T T D T 1.733 17.250 0.998 N N 0.171 3.177 0.031 2.469 0.980 0.603 0.574 0.574 0.663 . 5.660 5.660 1.631 1.155 0.618 0.026 0.403 0.243 664 . . . . CAGE1 103 0 79 38 0.324786324786325 TRUE TRUE +ENSG00000137161.17 . BCM GRCh38.p13 chr6 42938682 42938682 + G G A Missense_Mutation SNP ENST00000372836.5 exon6 c.G728A p.S243N exonic ENSG00000137161.17 . nonsynonymous SNV ENSG00000137161.17:ENST00000372836.5:exon6:c.G728A:p.S243N 6p21.1 C3N-00310 . . . . . . . . . 1.20 T T B B N D N T N 0.095 T T T 0.048 0.126 0.166 0.135 T T T T T T 1.742 17.320 0.991 N N -0.120 2.111 0.033 2.477 1.000 0.707 0.698 0.644 0.714 . 5.020 4.130 1.320 0.226 -0.107 1.000 0.995 0.996 288 . . . . CNPY3 154 0 85 51 0.375 TRUE TRUE +ENSG00000111799.21 . BCM GRCh38.p13 chr6 75102634 75102651 + GGGCCTGGAGGACCCTGG GGGCCTGGAGGACCCTGG - In_Frame_Del DEL ENST00000322507.13 exon56 c.8361_8378del p.P2791_P2796del exonic ENSG00000111799.21 . nonframeshift deletion ENSG00000111799.21:ENST00000322507.13:exon56:c.8361_8378del:p.P2791_P2796del 6q13 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL12A1 101 0 81 10 0.10989010989011 TRUE NA +ENSG00000197442.10 . BCM GRCh38.p13 chr6 136720512 136720512 + T T A Missense_Mutation SNP ENST00000359015.5 exon2 c.A526T p.S176C exonic ENSG00000197442.10 . nonsynonymous SNV ENSG00000197442.10:ENST00000359015.5:exon2:c.A526T:p.S176C 6q23.3 C3N-00310 . . . . . . . . . 7.20 T T B B D D L T D 0.592 T T T 0.120 0.518 0.397 0.388 D T T T D T 2.705 22.800 0.985 D D 0.100 2.887 0.275 3.576 1.000 0.706 0.504 0.653 0.613 . 5.930 5.930 3.145 1.120 0.605 1.000 0.999 0.997 450 Domain_of_unknown_function_DUF4071 . . . MAP3K5 117 0 89 45 0.335820895522388 TRUE TRUE +ENSG00000105996.7 . BCM GRCh38.p13 chr7 27102487 27102487 + A A T Missense_Mutation SNP ENST00000222718.7 exon1 c.T14A p.F5Y exonic ENSG00000105996.7 . nonsynonymous SNV ENSG00000105996.7:ENST00000222718.7:exon1:c.T14A:p.F5Y 7p15.2 C3N-00310 . . . . . . . . . 12.20 D D D D D D M T N 0.451 T T T 0.340 0.502 0.628 2.236 D T T T D D 3.980 26.800 0.991 D D 0.837 9.558 0.784 9.672 1.000 0.598 0.590 0.596 0.250 . 5.450 5.450 6.930 1.312 0.691 1.000 1.000 1.000 436 . . . . HOXA2 249 0 198 98 0.331081081081081 TRUE TRUE +ENSG00000197576.14 . BCM GRCh38.p13 chr7 27130655 27130655 + T T A Missense_Mutation SNP ENST00000360046.10 exon1 c.A79T p.S27C exonic ENSG00000197576.14 . nonsynonymous SNV ENSG00000197576.14:ENST00000360046.10:exon1:c.A79T:p.S27C 7p15.2 C3N-00310 . . . . . . . . . 9.19 D D D P . D N T N 0.303 T T D 0.140 0.353 0.893 1.116 D T T T D T 3.471 24.600 0.991 D D 0.180 3.214 0.107 2.762 1.000 0.516 0.610 0.608 0.373 . 4.230 0.467 1.322 0.129 0.603 1.000 0.998 0.995 399 . . . . HOXA4 205 2 285 125 0.304878048780488 TRUE TRUE +ENSG00000221909.3 . BCM GRCh38.p13 chr7 99546850 99546850 + A A G Missense_Mutation SNP ENST00000449309.2 exon2 c.T1558C p.F520L exonic ENSG00000221909.3 . nonsynonymous SNV ENSG00000221909.3:ENST00000449309.2:exon2:c.T1558C:p.F520L 7q22.1 C3N-00310 . . . . . . . . . 7.20 D D D D U N M T D 0.428 T T T 0.228 0.805 0.256 0.521 T T T T D T 3.308 24.100 0.998 N N 0.316 3.861 0.159 2.988 0.758 0.651 0.634 0.651 0.684 . 1.680 1.680 1.959 1.009 0.691 1.000 0.984 0.909 303 . . . . FAM200A 55 0 56 41 0.422680412371134 TRUE TRUE +ENSG00000133561.15 . BCM GRCh38.p13 chr7 150627800 150627800 + C C - Frame_Shift_Del DEL ENST00000328902.9 exon3 c.798delG p.E266Dfs*122 exonic ENSG00000133561.15 . frameshift deletion ENSG00000133561.15:ENST00000328902.9:exon3:c.798delG:p.E266Dfs*122 7q36.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GIMAP6 256 0 176 113 0.391003460207612 TRUE TRUE +ENSG00000129422.14 . BCM GRCh38.p13 chr8 17743620 17743620 + C C A Missense_Mutation SNP ENST00000262102.10 exon3 c.G2271T p.R757S exonic ENSG00000129422.14 . nonsynonymous SNV ENSG00000129422.14:ENST00000262102.10:exon3:c.G2271T:p.R757S 8p22 C3N-00310 1.66e-05 0 0 0.0002 0 0 0 0 rs777233433 3.20 D T P B N N L T N 0.430 T T T 0.056 0.244 0.595 . T T T T D T 2.088 19.930 0.998 D N 0.195 3.281 0.233 3.351 1.000 0.554 0.588 0.460 0.632 . 4.870 4.870 1.168 0.127 -0.176 1.000 0.996 0.704 584 . . . . MTUS1 104 0 63 36 0.363636363636364 TRUE NA +ENSG00000147459.18 . BCM GRCh38.p13 chr8 25382684 25382684 + C C T Missense_Mutation SNP ENST00000276440.12 exon40 c.C4037T p.A1346V exonic ENSG00000147459.18 . nonsynonymous SNV ENSG00000147459.18:ENST00000276440.12:exon40:c.C4037T:p.A1346V 8p21.2 C3N-00310 . . . . . . . . . 15.20 D D D D D D M T D 0.952 T T D 0.496 0.461 0.355 0.312 T T D D D D 4.248 29.100 0.999 D D 0.949 12.384 0.895 13.535 1.000 0.653 0.624 0.676 0.655 . 5.690 5.690 7.905 1.026 0.599 1.000 1.000 0.995 463 DHR-2_domain;Dedicator_of_cytokinesis,_C-terminal . . . DOCK5 138 0 126 54 0.3 TRUE TRUE +ENSG00000169139.12 . BCM GRCh38.p13 chr8 48043081 48043081 + G G A Missense_Mutation SNP ENST00000523111.7 exon2 c.G65A p.G22E exonic ENSG00000169139.12 . nonsynonymous SNV ENSG00000169139.12:ENST00000523111.7:exon2:c.G65A:p.G22E 8q11.21 C3N-00310 . . . . . . . . . 16.20 D D D D D D H T D 0.803 T T D 0.481 0.594 0.883 1.932 D T D D D D 4.048 27.300 0.999 D D 1.061 15.970 1.004 19.063 1.000 0.732 0.744 0.710 0.728 . 5.700 5.700 9.893 1.176 0.676 1.000 1.000 1.000 531 Ubiquitin-conjugating_enzyme_E2 . . . UBE2V2 70 0 74 34 0.314814814814815 TRUE TRUE +ENSG00000184672.12 . BCM GRCh38.p13 chr8 84529511 84529511 + A A C Missense_Mutation SNP ENST00000521268.6 exon2 c.A190C p.S64R exonic ENSG00000184672.12 . nonsynonymous SNV ENSG00000184672.12:ENST00000521268.6:exon2:c.A190C:p.S64R 8q21.2 C3N-00310 . . . . . . . . . 8.20 D D B B D D L T N 0.583 T T T 0.318 0.599 0.441 1.187 T T T T D D 3.282 24.100 0.997 D D 0.134 3.023 0.334 3.922 0.999 0.487 0.574 0.547 0.564 . 5.450 5.450 9.324 1.311 0.754 1.000 1.000 0.999 919 RNA_recognition_motif_domain;RALYL,_RNA_recognition_motif . . . RALYL 183 0 180 82 0.312977099236641 TRUE TRUE +ENSG00000104320.14 . BCM GRCh38.p13 chr8 89981474 89981474 + T T G Missense_Mutation SNP ENST00000265433.8 exon3 c.A221C p.Y74S exonic ENSG00000104320.14 . nonsynonymous SNV ENSG00000104320.14:ENST00000265433.8:exon3:c.A221C:p.Y74S 8q21.3 C3N-00310 . . . . . . . . . 16.20 D D D D D D M T D 0.920 T T D 0.723 0.765 0.693 0.480 T D D D D D 4.243 29.100 0.991 D D 0.744 7.789 0.733 8.419 1.000 0.757 0.672 0.659 0.657 . 5.820 5.820 5.824 1.118 0.609 1.000 0.999 0.990 896 Forkhead-associated_(FHA)_domain . . . NBN 94 0 91 43 0.32089552238806 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112638827 112638827 + G G T Missense_Mutation SNP ENST00000297405.10 exon21 c.C3395A p.P1132Q exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon21:c.C3395A:p.P1132Q 8q23.3 C3N-00310 8.259e-06 0 0 0 0 1.501e-05 0 0 rs765683126 14.20 D D D D D D L T D 0.887 T T D 0.607 0.415 0.708 0.642 T T D D D D 4.071 27.500 0.994 D D 0.861 10.094 0.844 11.564 1.000 0.487 0.574 0.574 0.564 . 5.360 5.360 9.968 1.176 0.618 1.000 1.000 0.997 822 CUB_domain . . . CSMD3 216 0 253 122 0.325333333333333 TRUE NA +ENSG00000042832.12 . BCM GRCh38.p13 chr8 132967834 132967834 + A A - Frame_Shift_Del DEL ENST00000220616.9 exon31 c.5727delA p.T1910Qfs*32 exonic ENSG00000042832.12 . frameshift deletion ENSG00000042832.12:ENST00000220616.9:exon31:c.5727delA:p.T1910Qfs*32 8q24.22 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TG 282 0 238 121 0.337047353760446 TRUE TRUE +ENSG00000155827.12 . BCM GRCh38.p13 chr9 101547480 101547480 + G G C Missense_Mutation SNP ENST00000389120.8 exon9 c.G1054C p.D352H exonic ENSG00000155827.12 . nonsynonymous SNV ENSG00000155827.12:ENST00000389120.8:exon9:c.G1054C:p.D352H 9q31.1 C3N-00310 . . . . . . . . . 14.20 T D D D D D M T D 0.869 T T D 0.384 0.155 0.684 1.533 T T D D D D 4.263 29.300 0.983 D D 0.805 8.884 0.818 10.665 1.000 0.707 0.725 0.725 0.714 . 5.410 5.410 9.567 1.176 0.676 1.000 1.000 0.998 678 . . . . RNF20 182 0 144 76 0.345454545454545 TRUE TRUE +ENSG00000136895.19 . BCM GRCh38.p13 chr9 127389085 127389085 + A A C Missense_Mutation SNP ENST00000373387.9 exon26 c.A2709C p.K903N exonic ENSG00000136895.19 . nonsynonymous SNV ENSG00000136895.19:ENST00000373387.9:exon26:c.A2709C:p.K903N 9q33.3 C3N-00310 . . . . . . . . . 15.20 D D D D D D L D N 0.569 D D D 0.455 0.307 0.723 1.150 D T T T D D 3.651 25.200 0.999 D D 0.301 3.786 0.286 3.636 1.000 0.554 0.518 0.602 0.613 . 5.510 3.090 3.041 1.312 0.756 1.000 1.000 0.999 522 . . . . GARNL3 299 0 246 103 0.29512893982808 TRUE TRUE +ENSG00000065675.15 . BCM GRCh38.p13 chr10 6456714 6456714 + G G A Missense_Mutation SNP ENST00000263125.10 exon15 c.C1607T p.T536M exonic ENSG00000065675.15 . nonsynonymous SNV ENSG00000065675.15:ENST00000263125.10:exon15:c.C1607T:p.T536M 10p15.1 C3N-00310 1.649e-05 0.0002 0 0 0 0 0 0 rs756942026 13.20 D D D D D D L T D 0.714 T T D 0.496 . 0.815 1.357 T T T D D D 3.507 24.700 0.999 D D 0.650 6.469 0.612 6.380 1.000 0.707 0.574 0.725 0.621 . 5.400 5.400 9.739 1.176 0.676 1.000 0.193 0.083 922 Protein_kinase_domain;Novel_protein_kinase_C_theta,_catalytic_domain . . ID=COSV54119832;OCCURENCE=1(large_intestine) PRKCQ 159 0 135 53 0.281914893617021 TRUE TRUE +ENSG00000168283.14 . BCM GRCh38.p13 chr10 22329493 22329493 + G G A Missense_Mutation SNP ENST00000376663.8 exon10 c.G932A p.R311K exonic ENSG00000168283.14;ENSG00000269897.5 . nonsynonymous SNV ENSG00000168283.14:ENST00000376663.8:exon10:c.G932A:p.R311K,ENSG00000269897.5:ENST00000602390.5:exon14:c.G1361A:p.R454K 10p12.2 C3N-00310 2.475e-05 0 0 0.0003 0 0 0 0 rs764909255 3.20 T T B B D D N T N 0.162 T T T 0.097 0.194 0.694 0.686 T T T T T T 2.448 22.300 0.960 D N -0.091 2.203 0.166 3.020 1.000 0.719 0.723 0.687 0.714 . 5.580 5.580 6.573 1.172 0.672 1.000 1.000 0.998 821 . . . . BMI1 123 0 117 58 0.331428571428571 TRUE NA +ENSG00000107890.16 . BCM GRCh38.p13 chr10 27077363 27077363 + G G A Missense_Mutation SNP ENST00000376087.4 exon9 c.C1052T p.S351L exonic ENSG00000107890.16 . nonsynonymous SNV ENSG00000107890.16:ENST00000376087.4:exon9:c.C1052T:p.S351L 10p12.1 C3N-00310 . . . . . . . . . 1.19 D T B B . N L T N 0.280 T T T 0.028 0.337 0.192 0.044 T T T T T T 0.637 7.863 0.573 N N -1.228 0.208 -1.283 0.220 0.013 0.566 0.616 0.609 0.636 . 3.970 -0.364 1.190 0.078 -0.141 0.008 0.001 0.000 699 . . . . ANKRD26 212 0 222 114 0.339285714285714 TRUE TRUE +ENSG00000172671.20 . BCM GRCh38.p13 chr10 45626000 45626000 + T T A Missense_Mutation SNP ENST00000344646.10 exon7 c.A1823T p.E608V exonic ENSG00000172671.20 . nonsynonymous SNV ENSG00000172671.20:ENST00000344646.10:exon7:c.A1823T:p.E608V 10q11.22 C3N-00310 8.273e-06 0 0 0.0001 0 0 0 0 rs762806906 10.20 D D D D N D M T D 0.384 T T T 0.274 0.386 0.562 0.253 T T T T D T 4.172 28.400 0.991 D D 0.694 7.034 0.699 7.733 1.000 0.732 0.744 0.710 0.655 . 5.730 5.730 6.858 1.138 0.665 1.000 0.957 0.988 835 . . . . ZFAND4 159 0 153 82 0.348936170212766 TRUE NA +ENSG00000204149.12 . BCM GRCh38.p13 chr10 50009863 50009863 + C C G Missense_Mutation SNP ENST00000374056.10 exon7 c.C1669G p.L557V exonic ENSG00000204149.12 . nonsynonymous SNV ENSG00000204149.12:ENST00000374056.10:exon7:c.C1669G:p.L557V 10q11.23 C3N-00310 . . . . . . . . . 2.16 . D . . D N L T . 0.172 T T T 0.071 - 0.099 . T T T T T T 0.683 8.298 0.785 N N -0.733 0.758 -0.861 0.674 0.000 0.706 0.710 0.659 0.655 . 0.046 0.046 2.800 -1.044 0.122 0.997 0.007 0.113 714 Arf_GTPase_activating_protein . . . AGAP6 369 0 312 151 0.326133909287257 NA TRUE +ENSG00000166024.13 . BCM GRCh38.p13 chr10 98234516 98234516 + G G - Frame_Shift_Del DEL ENST00000612478.4 exon6 c.2074delG p.A692Lfs*12 exonic ENSG00000166024.13 . frameshift deletion ENSG00000166024.13:ENST00000612478.4:exon6:c.2074delG:p.A692Lfs*12 10q24.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . R3HCC1L 91 0 73 48 0.396694214876033 TRUE NA +ENSG00000110713.17 . BCM GRCh38.p13 chr11 3695592 3695592 + C C T Missense_Mutation SNP ENST00000359171.8 exon26 c.G4075A p.A1359T exonic ENSG00000110713.17 . nonsynonymous SNV ENSG00000110713.17:ENST00000359171.8:exon26:c.G4075A:p.A1359T 11p15.4 C3N-00310 . . . . . . . . . 12.19 D D D P D N M . D 0.777 T T T 0.377 0.713 0.700 0.740 T D D D D D 3.986 26.900 0.999 D N 0.440 4.603 0.472 4.916 0.998 0.707 0.702 0.725 0.714 . 5.250 5.250 3.136 1.016 0.587 1.000 1.000 0.996 530 Nuclear_protein_96 . . . NUP98 70 0 53 20 0.273972602739726 TRUE TRUE +ENSG00000179057.13 . BCM GRCh38.p13 chr11 18707917 18707917 + T T - Frame_Shift_Del DEL ENST00000513874.5 exon20 c.3167delA p.N1056Tfs*57 exonic ENSG00000179057.13 . frameshift deletion ENSG00000179057.13:ENST00000513874.5:exon20:c.3167delA:p.N1056Tfs*57 11p15.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF22 282 0 235 95 0.287878787878788 TRUE TRUE +ENSG00000149091.15 . BCM GRCh38.p13 chr11 46374635 46374635 + C C G Missense_Mutation SNP ENST00000456247.6 exon17 c.C1490G p.S497C exonic ENSG00000149091.15 . nonsynonymous SNV ENSG00000149091.15:ENST00000456247.6:exon17:c.C1490G:p.S497C 11p11.2 C3N-00310 . . . . . . . . . 11.20 D T D D D D L T D 0.719 T T D 0.247 0.605 0.611 2.079 T T T T D D 3.807 25.900 0.987 D D 0.505 5.072 0.531 5.451 1.000 0.563 0.380 0.447 0.636 . 4.440 4.440 5.727 1.026 0.599 1.000 1.000 0.999 36 Diacylglycerol_kinase,_accessory_domain . . . DGKZ 24 0 20 8 0.285714285714286 TRUE TRUE +ENSG00000165915.14 . BCM GRCh38.p13 chr11 47413679 47413679 + - NA CAA In_Frame_Ins INS ENST00000362021.9 exon6 c.728_729insCAA p.S243_K244insN exonic ENSG00000165915.14 . nonframeshift insertion ENSG00000165915.14:ENST00000362021.9:exon6:c.728_729insCAA:p.S243_K244insN 11p11.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC39A13 NA NA NA NA NA NA NA +ENSG00000176495.3 . BCM GRCh38.p13 chr11 59365073 59365073 + G G A Missense_Mutation SNP ENST00000641850.1 exon2 c.G615A p.M205I exonic ENSG00000176495.3 . nonsynonymous SNV ENSG00000176495.3:ENST00000641850.1:exon2:c.G615A:p.M205I 11q12.1 C3N-00310 . . . . . . . . . 0.20 T T B B N N N T N 0.089 T T T 0.049 0.489 0.157 0.004 T T T T T T 0.790 9.294 0.251 N N -0.963 0.445 -0.912 0.605 0.000 0.487 0.586 0.574 0.564 . 4.120 0.747 -0.034 0.071 0.676 0.000 0.936 0.412 262 GPCR,_rhodopsin-like,_7TM . . . OR5AN1 121 0 165 53 0.243119266055046 TRUE TRUE +ENSG00000110237.5 . BCM GRCh38.p13 chr11 73364596 73364596 + T T A Missense_Mutation SNP ENST00000263674.4 exon18 c.T5546A p.L1849Q exonic ENSG00000110237.5 . nonsynonymous SNV ENSG00000110237.5:ENST00000263674.4:exon18:c.T5546A:p.L1849Q 11q13.4 C3N-00310 . . . . . . . . . 3.20 T T B B N D N T N 0.506 T T T 0.116 0.510 0.426 0.402 T T T T D T 2.954 23.300 0.938 D N -0.314 1.580 -0.043 2.217 1.000 0.706 0.654 0.710 0.714 . 5.650 4.480 5.553 1.138 0.665 1.000 1.000 0.987 462 . . . . ARHGEF17 72 0 53 37 0.411111111111111 TRUE TRUE +ENSG00000149571.12 . BCM GRCh38.p13 chr11 126521399 126521399 + C C - Frame_Shift_Del DEL ENST00000525144.7 exon4 c.349delG p.A117Qfs*41 exonic ENSG00000149571.12 . frameshift deletion ENSG00000149571.12:ENST00000525144.7:exon4:c.349delG:p.A117Qfs*41 11q24.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIRREL3 153 0 85 39 0.314516129032258 TRUE TRUE +ENSG00000151067.22 . BCM GRCh38.p13 chr12 2608628 2608628 + G G T Missense_Mutation SNP ENST00000399655.6 exon27 c.G3474T p.M1158I exonic ENSG00000151067.22 . nonsynonymous SNV ENSG00000151067.22:ENST00000399655.6:exon27:c.G3474T:p.M1158I 12p13.33 C3N-00310 . . . . . . . . . 16.19 T T D D D D N D D 0.822 D D D 0.856 0.581 0.930 2.020 D D D D D . 3.642 25.200 0.997 D D 0.564 5.580 0.623 6.521 1.000 0.549 0.627 0.602 0.564 . 4.740 4.740 9.602 1.172 0.672 1.000 1.000 0.999 921 Ion_transport_domain . . . CACNA1C 197 0 188 69 0.268482490272374 TRUE TRUE +ENSG00000139537.11 . BCM GRCh38.p13 chr12 48916998 48916998 + G G C Missense_Mutation SNP ENST00000320516.5 exon4 c.G499C p.E167Q exonic ENSG00000139537.11 . nonsynonymous SNV ENSG00000139537.11:ENST00000320516.5:exon4:c.G499C:p.E167Q 12q13.12 C3N-00310 8.284e-06 0 0 0 0 1.506e-05 0 0 rs376799979 5.19 T T D P N D . T N 0.526 T T T 0.210 . 0.030 0.211 T T T T D T 3.294 24.100 0.997 D D 0.600 5.928 0.650 6.909 1.000 0.615 0.593 0.659 0.726 . 5.320 5.320 7.273 1.176 0.671 1.000 1.000 0.996 577 . . . . CCDC65 91 0 80 38 0.322033898305085 TRUE NA +ENSG00000059758.8 . BCM GRCh38.p13 chr12 96313338 96313341 + TATG TATG - Frame_Shift_Del DEL ENST00000261211.8 exon4 c.397_400del p.H133Dfs*8 exonic ENSG00000059758.8 . frameshift deletion ENSG00000059758.8:ENST00000261211.8:exon4:c.397_400del:p.H133Dfs*8 12q23.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDK17 123 0 120 37 0.235668789808917 TRUE TRUE +ENSG00000090975.12 . BCM GRCh38.p13 chr12 122988285 122988285 + G G - Frame_Shift_Del DEL ENST00000320201.8 exon19 c.2946delC p.S983Qfs*14 exonic ENSG00000090975.12 . frameshift deletion ENSG00000090975.12:ENST00000320201.8:exon19:c.2946delC:p.S983Qfs*14 12q24.31 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PITPNM2 223 0 121 73 0.376288659793814 TRUE TRUE +ENSG00000151849.15 . BCM GRCh38.p13 chr13 24883194 24883194 + T T C Missense_Mutation SNP ENST00000381884.9 exon17 c.A4000G p.M1334V exonic ENSG00000151849.15 . nonsynonymous SNV ENSG00000151849.15:ENST00000381884.9:exon17:c.A4000G:p.M1334V 13q12.12 C3N-00310 8.237e-06 0 0 0 0 1.498e-05 0 0 rs774140825 3.20 T T B B D D N T N 0.270 T T T 0.119 0.550 0.728 0.135 T T T T T T 2.286 21.500 0.877 D N -0.549 1.082 -0.448 1.289 0.858 0.707 0.725 0.725 0.684 . 5.890 1.990 1.792 1.138 0.609 0.982 0.968 0.940 900 T-complex_protein_10,_C-terminal_domain . . . CENPJ 213 0 182 88 0.325925925925926 TRUE NA +ENSG00000136099.13 . BCM GRCh38.p13 chr13 52845970 52845970 + T T G Missense_Mutation SNP ENST00000377942.7 exon1 c.A2467C p.T823P exonic ENSG00000136099.13 . nonsynonymous SNV ENSG00000136099.13:ENST00000377942.7:exon1:c.A2467C:p.T823P 13q14.3 C3N-00310 . . . . . . . . . 9.20 T T P B N D N D N 0.398 T D D 0.484 0.262 0.732 . D T D D T T 2.480 22.400 0.976 D D -0.118 2.117 0.021 2.431 1.000 0.598 0.590 0.607 0.639 . 4.850 3.670 0.850 1.134 0.657 1.000 1.000 1.000 373 . . . . PCDH8 128 0 81 62 0.433566433566434 TRUE TRUE +ENSG00000100519.12 . BCM GRCh38.p13 chr14 52707242 52707242 + C C T Missense_Mutation SNP ENST00000445930.7 exon1 c.C23T p.A8V exonic ENSG00000100519.12 . nonsynonymous SNV ENSG00000100519.12:ENST00000445930.7:exon1:c.C23T:p.A8V 14q22.1 C3N-00310 8.368e-06 0 0 0 0 1.529e-05 0 0 rs771076814 11.20 T T B B D D L D N 0.581 D D D 0.494 0.246 0.932 0.013 T T D D D T 2.827 23.100 0.996 D D -0.026 2.421 0.130 2.862 1.000 0.442 0.522 0.522 0.562 . 4.640 4.640 3.714 1.026 0.599 1.000 1.000 1.000 840 . . . . PSMC6 347 0 240 80 0.25 TRUE NA +ENSG00000133943.20 . BCM GRCh38.p13 chr14 91173350 91173350 + C C T Missense_Mutation SNP ENST00000523771.5 exon6 c.C503T p.P168L exonic ENSG00000133943.20 . nonsynonymous SNV ENSG00000133943.20:ENST00000523771.5:exon6:c.C503T:p.P168L 14q32.11 C3N-00310 . . . . . . . . . 10.18 D D D D D D . T D 0.578 T T D 0.309 0.731 0.611 0.137 . T T T D D 2.013 19.360 0.998 N N 0.454 4.700 0.265 3.520 1.000 0.778 0.854 0.854 0.826 . 4.550 4.550 1.306 0.876 0.511 0.776 0.876 0.039 903 . . . . DGLUCY 201 0 142 78 0.354545454545455 TRUE TRUE +ENSG00000137802.14 . BCM GRCh38.p13 chr15 41822245 41822245 + C C T Missense_Mutation SNP ENST00000456763.6 exon27 c.C3070T p.L1024F exonic ENSG00000137802.14 . nonsynonymous SNV ENSG00000137802.14:ENST00000456763.6:exon27:c.C3070T:p.L1024F 15q15.1 C3N-00310 . . . . . . . . . 9.20 D T D D N D M T N 0.561 T T D 0.167 0.164 0.377 0.395 T T T T D D 2.559 22.600 0.998 D N 0.077 2.795 0.084 2.670 0.439 0.615 0.546 0.659 0.636 . 4.910 2.990 2.266 0.126 -0.185 0.996 0.996 0.926 216 . . . . MAPKBP1 91 0 89 32 0.264462809917355 TRUE NA +ENSG00000159337.7 . BCM GRCh38.p13 chr15 42083763 42083763 + C C T Missense_Mutation SNP ENST00000290472.4 exon7 c.G488A p.C163Y exonic ENSG00000159337.7 . nonsynonymous SNV ENSG00000159337.7:ENST00000290472.4:exon7:c.G488A:p.C163Y 15q15.1 C3N-00310 . . . . . . . . . 5.20 D D P B N N M T D 0.521 T T T 0.098 0.380 0.379 0.330 T T T T D T 2.214 21.000 0.987 N N -0.090 2.205 -0.156 1.894 0.996 0.497 0.563 0.590 0.530 . 3.790 2.490 0.862 0.138 0.544 0.206 0.229 0.860 89 . . . . PLA2G4D 128 0 93 43 0.316176470588235 TRUE TRUE +ENSG00000138622.4 . BCM GRCh38.p13 chr15 73323820 73323820 + C C T Missense_Mutation SNP ENST00000261917.4 exon8 c.G2273A p.R758H exonic ENSG00000138622.4 . nonsynonymous SNV ENSG00000138622.4:ENST00000261917.4:exon8:c.G2273A:p.R758H 15q24.1 C3N-00310 8.348e-06 0 0 0.0001 0 0 0 0 rs373284500 1.19 T T B B . N N T N 0.041 T T T 0.056 . 0.401 0.218 T T T T T T 1.954 18.910 0.963 D N -0.468 1.241 -0.364 1.438 0.988 0.696 0.547 0.723 0.563 . 3.450 2.410 2.440 1.021 0.545 0.985 0.824 0.976 653 . . . ID=COSV56083594;OCCURENCE=1(oesophagus),1(upper_aerodigestive_tract),1(endometrium) HCN4 102 0 147 67 0.313084112149533 TRUE TRUE +ENSG00000125170.11 . BCM GRCh38.p13 chr16 57473948 57473948 + C C T Missense_Mutation SNP ENST00000340099.9 exon7 c.G691A p.A231T exonic ENSG00000125170.11 . nonsynonymous SNV ENSG00000125170.11:ENST00000340099.9:exon7:c.G691A:p.A231T 16q21 C3N-00310 . . . . . . . . . 18.20 D D D D D D M D N 0.869 D D D 0.656 0.398 0.995 1.010 T D D D D D 4.070 27.500 0.999 D D 0.749 7.856 0.730 8.353 1.000 0.732 0.698 0.744 0.711 . 5.280 5.280 7.876 1.026 0.599 1.000 0.967 0.895 625 IRS-type_PTB_domain . . ID=COSV99538313;OCCURENCE=1(cervix) DOK4 232 0 194 64 0.248062015503876 TRUE NA +ENSG00000102904.14 . BCM GRCh38.p13 chr16 67824687 67824687 + A A - Frame_Shift_Del DEL ENST00000388833.7 exon6 c.424delA p.K142Nfs*12 exonic ENSG00000102904.14 . frameshift deletion ENSG00000102904.14:ENST00000388833.7:exon6:c.424delA:p.K142Nfs*12 16q22.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSNAXIP1 191 0 139 45 0.244565217391304 TRUE TRUE +ENSG00000129993.15 . BCM GRCh38.p13 chr16 88881329 88881329 + G G T Missense_Mutation SNP ENST00000268679.9 exon9 c.C1364A p.P455H exonic ENSG00000129993.15 . nonsynonymous SNV ENSG00000129993.15:ENST00000268679.9:exon9:c.C1364A:p.P455H 16q24.3 C3N-00310 . . . . . . . . . 7.20 D T B B D D L T N 0.336 T T D 0.051 0.192 0.539 0.075 T T T T D T 2.237 21.100 0.994 D D 0.003 2.520 0.093 2.707 1.000 0.660 0.694 0.504 0.563 . 4.820 4.820 3.870 1.043 0.671 1.000 0.442 0.150 830 . . . . CBFA2T3 90 0 41 22 0.349206349206349 TRUE TRUE +ENSG00000158792.16 . BCM GRCh38.p13 chr16 89700983 89700983 + C C T Missense_Mutation SNP ENST00000289805.10 exon2 c.G250A p.A84T exonic ENSG00000158792.16 . nonsynonymous SNV ENSG00000158792.16:ENST00000289805.10:exon2:c.G250A:p.A84T 16q24.3 C3N-00310 . . . . . . . . . 9.19 T D D D D D M . N 0.634 T T D 0.199 0.516 0.223 2.955 D T T T D T 3.691 25.400 0.999 N N 0.495 4.993 0.458 4.796 1.000 0.442 0.522 0.522 0.373 . 4.520 4.520 4.186 1.000 0.599 1.000 1.000 0.977 716 . . . . SPATA2L 92 0 54 32 0.372093023255814 TRUE TRUE +ENSG00000172150.4 . BCM GRCh38.p13 chr17 3198315 3198315 + G G T Missense_Mutation SNP ENST00000381951.1 exon1 c.G797T p.S266I exonic ENSG00000172150.4 . nonsynonymous SNV ENSG00000172150.4:ENST00000381951.1:exon1:c.G797T:p.S266I 17p13.3 C3N-00310 . . . . . . . . . 7.19 D D D P D N M T D 0.248 T T T 0.064 0.618 0.415 0.600 . T T T D T 2.041 19.570 0.987 N N -0.359 1.474 -0.627 1.006 0.000 0.487 0.574 0.574 0.564 . 4.000 0.795 1.308 -0.221 -0.313 0.078 0.000 0.023 632 GPCR,_rhodopsin-like,_7TM . . . OR1A2 250 0 295 80 0.213333333333333 TRUE TRUE +ENSG00000010244.18 . BCM GRCh38.p13 chr17 32367928 32367928 + G G A Missense_Mutation SNP ENST00000321233.10 exon9 c.G1030A p.A344T exonic ENSG00000010244.18 . nonsynonymous SNV ENSG00000010244.18:ENST00000321233.10:exon9:c.G1030A:p.A344T 17q11.2 C3N-00310 . . . . . . . . . 6.20 T T P P N D L T D 0.331 T T T 0.059 0.250 0.381 0.908 T T T T D D 2.658 22.700 0.999 D D 0.159 3.126 0.355 4.053 0.998 0.672 0.702 0.702 0.711 . 6.030 6.030 5.729 1.176 0.676 1.000 0.997 0.998 911 . . . . ZNF207 284 0 245 92 0.27299703264095 TRUE TRUE +ENSG00000010244.18 . BCM GRCh38.p13 chr17 32368012 32368012 + C C A Missense_Mutation SNP ENST00000321233.10 exon9 c.C1114A p.L372M exonic ENSG00000010244.18 . nonsynonymous SNV ENSG00000010244.18:ENST00000321233.10:exon9:c.C1114A:p.L372M 17q11.2 C3N-00310 . . . . . . . . . 11.20 T T D D D D M T N 0.694 T T D 0.251 0.201 0.661 1.109 D T T T D D 3.232 23.900 0.996 D D 0.552 5.470 0.515 5.298 0.760 0.672 0.702 0.702 0.711 . 5.910 3.930 4.155 1.026 0.549 1.000 1.000 0.982 911 . . . . ZNF207 101 0 137 46 0.251366120218579 TRUE TRUE +ENSG00000108592.17 . BCM GRCh38.p13 chr17 63821421 63821421 + G G T Missense_Mutation SNP ENST00000427159.7 exon16 c.C1819A p.L607I exonic ENSG00000108592.17 . nonsynonymous SNV ENSG00000108592.17:ENST00000427159.7:exon16:c.C1819A:p.L607I 17q23.3 C3N-00310 . . . . . . . . . 0.20 T T B B N N N T N 0.123 T T T 0.012 0.102 0.085 0.116 T T T T T T 0.354 4.915 0.869 N N -1.054 0.349 -1.053 0.426 1.000 0.672 0.698 0.702 0.711 . 4.970 0.320 0.082 -0.172 0.676 0.000 0.000 0.198 856 . . . . FTSJ3 120 1 124 50 0.28735632183908 TRUE TRUE +ENSG00000158270.12 . BCM GRCh38.p13 chr18 346619 346619 + G G A Missense_Mutation SNP ENST00000400256.5 exon5 c.C1003T p.R335C exonic ENSG00000158270.12 . nonsynonymous SNV ENSG00000158270.12:ENST00000400256.5:exon5:c.C1003T:p.R335C 18p11.32 C3N-00310 3.295e-05 0.0002 0 0 0 1.499e-05 0 6.057e-05 rs765394463 16.20 D D D P D D M T D 0.867 D D D 0.674 . 0.659 0.920 T T D D D D 4.237 29.000 0.997 D D 0.695 7.056 0.738 8.532 1.000 0.707 0.574 0.598 0.714 . 5.860 5.860 5.231 1.176 0.676 1.000 1.000 1.000 823 . . . ID=COSV68374660;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(soft_tissue) COLEC12 191 0 136 84 0.381818181818182 TRUE TRUE +ENSG00000197563.11 . BCM GRCh38.p13 chr18 62145953 62145953 + G G C Missense_Mutation SNP ENST00000640252.2 exon10 c.C878G p.P293R exonic ENSG00000197563.11 . nonsynonymous SNV ENSG00000197563.11:ENST00000640252.2:exon10:c.C878G:p.P293R 18q21.33 C3N-00310 . . . . . . . . . 10.20 D D P P D D M T D 0.342 T T T 0.327 0.541 0.770 0.043 T T T T D D 3.945 26.600 0.998 D D 0.853 9.909 0.839 11.382 1.000 0.732 0.709 0.659 0.728 . 5.870 5.870 8.375 1.176 0.676 1.000 0.993 0.985 947 Sulfatase,_N-terminal;GPI_ethanolamine_phosphate_transferase_1,_N-terminal . . . PIGN 68 0 65 30 0.315789473684211 TRUE TRUE +ENSG00000105229.7 . BCM GRCh38.p13 chr19 4033486 4033486 + G G A Missense_Mutation SNP ENST00000262971.3 exon9 c.G1048A p.A350T exonic ENSG00000105229.7 . nonsynonymous SNV ENSG00000105229.7:ENST00000262971.3:exon9:c.G1048A:p.A350T 19p13.3 C3N-00310 2.117e-05 0 0 0 0 3.935e-05 0 0 rs368054611 17.20 D D D D D D M T D 0.962 T T D 0.477 . 0.637 1.737 D D D D D D 4.299 29.600 0.999 D D 0.922 11.632 0.809 10.405 1.000 0.707 0.702 0.723 0.714 . 4.210 4.210 8.028 1.172 0.672 1.000 0.990 0.998 873 Zinc_finger,_MIZ-type . . . PIAS4 218 0 120 56 0.318181818181818 TRUE NA +ENSG00000127616.18 . BCM GRCh38.p13 chr19 11027872 11027872 + T T C Missense_Mutation SNP ENST00000344626.9 exon24 c.T3304C p.F1102L exonic ENSG00000127616.18 . nonsynonymous SNV ENSG00000127616.18:ENST00000344626.9:exon24:c.T3304C:p.F1102L 19p13.2 C3N-00310 . . . . . . . . . 20.20 D D D D D D M D D 0.936 D D D 0.936 0.788 0.931 2.927 D D D D D D 4.353 30 0.999 D D 0.914 11.431 0.825 10.902 1.000 0.707 0.702 0.725 0.711 . 5.040 5.040 7.729 1.138 0.665 1.000 0.998 0.999 510 Helicase,_C-terminal . . ID=COSV60790620;OCCURENCE=1(central_nervous_system),2(pancreas) SMARCA4 511 0 409 179 0.304421768707483 TRUE TRUE +ENSG00000141977.9 . BCM GRCh38.p13 chr19 16169730 16169730 + C C A Missense_Mutation SNP ENST00000269878.8 exon3 c.G98T p.R33L exonic ENSG00000141977.9 . nonsynonymous SNV ENSG00000141977.9:ENST00000269878.8:exon3:c.G98T:p.R33L 19p13.11 C3N-00310 . . . . . . . . . 11.19 D T B B D D M T D 0.866 T T D 0.331 0.626 0.785 0.064 T T D D D D 4.211 28.800 0.999 D . 0.250 3.534 0.330 3.898 0.999 0.428 0.547 0.547 0.613 . 4.910 4.910 5.996 0.928 0.578 1.000 0.988 0.810 976 . . . . CIB3 76 0 76 37 0.327433628318584 TRUE TRUE +ENSG00000160111.13 . BCM GRCh38.p13 chr19 16896600 16896600 + C C T Missense_Mutation SNP ENST00000443236.6 exon40 c.G5131A p.G1711S exonic ENSG00000160111.13 . nonsynonymous SNV ENSG00000160111.13:ENST00000443236.6:exon40:c.G5131A:p.G1711S 19p13.11 C3N-00310 . . . . . . . . . 0.14 . T . . U N . T . 0.099 T T T 0.020 . 0.179 1.265 T . T T T T 1.891 18.420 0.936 N N -1.005 0.398 -1.002 0.486 1.000 0.455 0.609 0.504 0.622 . 2.140 0.922 0.246 -0.138 0.414 0.262 0.079 0.392 970 Kazal_domain . . . CPAMD8 102 0 58 22 0.275 TRUE TRUE +ENSG00000180884.10 . BCM GRCh38.p13 chr19 34958245 34958245 + C C T Missense_Mutation SNP ENST00000404801.2 exon4 c.G1610A p.S537N exonic ENSG00000180884.10 . nonsynonymous SNV ENSG00000180884.10:ENST00000404801.2:exon4:c.G1610A:p.S537N 19q13.11 C3N-00310 . . . . . . . . . 0.19 T T B B . N L T N 0.115 T T T 0.030 0.204 0.153 0.145 T T T T T T 0.376 5.156 0.954 N N -1.269 0.182 -1.299 0.210 0.404 0.672 0.654 0.609 0.711 . 2.690 -1.030 -3.053 -0.061 0.587 0.000 0.197 0.928 309 Zinc_finger_C2H2-type . . . ZNF792 115 0 92 29 0.239669421487603 TRUE TRUE +ENSG00000275395.6 . BCM GRCh38.p13 chr19 39902679 39902679 + G G C Nonsense_Mutation SNP ENST00000616721.6 exon8 c.C4149G p.Y1383X exonic ENSG00000275395.6 . stopgain ENSG00000275395.6:ENST00000616721.6:exon8:c.C4149G:p.Y1383X 19q13.2 C3N-00310 . . . . . . . . . 3.5 . . . . . A . . . . . . . . . . . . . D D . . 3.726 25.500 0.990 N N -0.046 2.353 -0.393 1.385 0.000 0.638 0.670 0.496 0.605 . 2.660 0.296 -0.567 1.142 0.672 0.000 0.748 0.135 758 von_Willebrand_factor,_type_D_domain . . . FCGBP 524 0 414 179 0.30185497470489 NA TRUE +ENSG00000105357.18 . BCM GRCh38.p13 chr19 50276159 50276159 + G G C Missense_Mutation SNP ENST00000376970.6 exon26 c.G3513C p.E1171D exonic ENSG00000105357.18 . nonsynonymous SNV ENSG00000105357.18:ENST00000376970.6:exon26:c.G3513C:p.E1171D 19q13.33 C3N-00310 . . . . . . . . . 13.19 D D D D . D L T D 0.679 T D D 0.559 0.544 0.790 0.477 T D T T D D 3.322 24.200 0.998 D D 0.247 3.517 0.117 2.805 1.000 0.696 0.590 0.723 0.563 . 3.470 -0.311 1.972 0.222 0.671 1.000 0.931 0.998 744 Myosin_tail . . . MYH14 60 0 62 27 0.303370786516854 TRUE NA +ENSG00000204577.11 . BCM GRCh38.p13 chr19 54221221 54221221 + G G T Missense_Mutation SNP ENST00000346401.10 exon5 c.C817A p.Q273K exonic ENSG00000204577.11 . nonsynonymous SNV ENSG00000204577.11:ENST00000346401.10:exon5:c.C817A:p.Q273K 19q13.42 C3N-00310 . . . . . . . . . 5.18 D T D D N N . T D 0.148 T T T 0.035 0.515 0.270 1.673 T . T T D T 1.805 17.770 0.966 N N -0.264 1.704 -0.550 1.122 0.000 0.428 0.547 0.547 0.613 . 2.260 -0.090 -0.089 -0.312 0.589 0.000 0.000 0.464 994 Immunoglobulin_subtype_2;Immunoglobulin_subtype . . . LILRB3 505 1 465 140 0.231404958677686 NA TRUE +ENSG00000101417.12 . BCM GRCh38.p13 chr20 33710635 33710635 + T T A Missense_Mutation SNP ENST00000409299.8 exon3 c.A295T p.T99S exonic ENSG00000101417.12 . nonsynonymous SNV ENSG00000101417.12:ENST00000409299.8:exon3:c.A295T:p.T99S 20q11.22 C3N-00310 . . . . . . . . . 4.20 T T B B N D L T N 0.089 T T T 0.056 0.305 0.117 0.499 T T D T T T 2.184 20.700 0.929 D D -0.177 1.943 -0.070 2.133 1.000 0.707 0.725 0.641 0.655 . 5.220 4.120 5.026 1.127 0.651 1.000 0.849 0.579 164 . . . . PXMP4 222 0 173 71 0.290983606557377 TRUE TRUE +ENSG00000124159.15 . BCM GRCh38.p13 chr20 45304627 45304627 + C C T Missense_Mutation SNP ENST00000372754.5 exon2 c.G244A p.V82M exonic ENSG00000124159.15 . nonsynonymous SNV ENSG00000124159.15:ENST00000372754.5:exon2:c.G244A:p.V82M 20q13.12 C3N-00310 . . . . . . . . . 16.20 D D D D N D M T D 0.816 D D D 0.786 0.747 0.924 1.294 T T D D D D 3.485 24.700 0.999 D D 0.769 8.200 0.697 7.688 1.000 0.598 0.588 0.576 0.639 . 4.340 4.340 7.844 0.947 0.599 1.000 1.000 0.998 872 von_Willebrand_factor,_type_A . . . MATN4 150 1 113 42 0.270967741935484 TRUE TRUE +ENSG00000156273.16 . BCM GRCh38.p13 chr21 29342547 29342547 + C C T Missense_Mutation SNP ENST00000286800.8 exon5 c.C1925T p.S642L exonic ENSG00000156273.16 . nonsynonymous SNV ENSG00000156273.16:ENST00000286800.8:exon5:c.C1925T:p.S642L 21q21.3 C3N-00310 . . . . . . . . . 12.20 D T D P D D M T N 0.611 T T D 0.419 0.341 0.805 0.457 T T D D D D 3.990 26.900 0.999 D D 0.713 7.300 0.748 8.751 1.000 0.617 0.602 0.786 0.655 . 6.010 6.010 4.579 1.026 0.599 0.999 0.987 0.995 969 . . . ID=COSV54521242;OCCURENCE=1(urinary_tract) BACH1 267 0 260 41 0.136212624584718 TRUE TRUE +ENSG00000171365.17 . BCM GRCh38.p13 chrX 50081719 50081719 + G G T Missense_Mutation SNP ENST00000376091.8 exon9 c.G805T p.V269L exonic ENSG00000171365.17 . nonsynonymous SNV ENSG00000171365.17:ENST00000376091.8:exon9:c.G805T:p.V269L Xp11.23 C3N-00310 . . . . . . . . . 15.19 D T D D D D L D N 0.748 D D D 0.594 0.423 0.904 1.397 T D D D D D 4.021 27.100 0.998 D . . . . . 1.000 . . . . . 6.080 6.080 9.893 1.176 0.676 1.000 1.000 0.999 377 . . . . CLCN5 164 0 49 113 0.697530864197531 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53196782 53196782 + G G - Frame_Shift_Del DEL ENST00000375401.8 exon19 c.2885delC p.P962Lfs*16 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon19:c.2885delC:p.P962Lfs*16 Xp11.22 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 136 0 46 85 0.648854961832061 TRUE TRUE +ENSG00000147231.14 . BCM GRCh38.p13 chrX 106625147 106625152 + CTGTGT CTGTGT - In_Frame_Del DEL ENST00000372548.9 exon3 c.844_849del p.L282_C283del exonic ENSG00000147231.14 . nonframeshift deletion ENSG00000147231.14:ENST00000372548.9:exon3:c.844_849del:p.L282_C283del Xq22.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RADX 73 0 27 50 0.649350649350649 TRUE TRUE +ENSG00000133135.14 . BCM GRCh38.p13 chrX 106791231 106791231 + A A C Missense_Mutation SNP ENST00000255499.3 exon6 c.A1150C p.T384P exonic ENSG00000133135.14 . nonsynonymous SNV ENSG00000133135.14:ENST00000255499.3:exon6:c.A1150C:p.T384P Xq22.3 C3N-00310 . . . . . . . . . 0.19 T T P B N N N T N 0.108 T T T 0.044 0.173 0.177 0.462 T T T T T T 1.773 17.540 0.965 N . . . . . 0.000 . . . . . 5.350 1.130 1.735 0.240 -0.137 1.000 0.997 0.945 341 . . . . RNF128 53 0 22 42 0.65625 TRUE TRUE +ENSG00000147255.19 . BCM GRCh38.p13 chrX 131277907 131277907 + G G A Missense_Mutation SNP ENST00000361420.8 exon13 c.C2269T p.R757C exonic ENSG00000147255.19 . nonsynonymous SNV ENSG00000147255.19:ENST00000361420.8:exon13:c.C2269T:p.R757C Xq26.1 C3N-00310 1.141e-05 0 0.0001 0 0 0 0 0 rs750533250 5.19 D D D P N N L T N 0.359 T T D 0.077 0.510 0.043 0.560 T T T T T D 2.351 21.900 0.996 N . . . . . 0.992 . . . . . 4.880 1.840 0.749 1.176 0.676 0.000 0.573 0.957 61 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IGSF1 67 0 22 39 0.639344262295082 TRUE NA +ENSG00000115306.16 . BCM GRCh38.p13 chr2 54617607 54617607 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000115306.16 ENST00000356805.9:exon6:c.567-1G>T . . 2p16.2 C3N-00310 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.275 35 0.996 D . 1.229 26.636 1.075 24.478 1.000 0.295 0.279 0.343 0.376 0.987 5.070 5.070 9.940 1.176 0.676 1.000 0.999 0.998 783 . . . . SPTBN1 147 0 122 68 0.357894736842105 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142189 10142189 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon1:c.340+2T>A . . 3p25.3 C3N-00310 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.867 35 0.979 D . 0.945 12.264 0.764 9.152 1.000 0.076 0.090 0.050 0.088 0.595 5.080 3.930 5.006 0.971 0.515 1.000 0.775 0.597 364 . . . ID=COSV56551713;OCCURENCE=4(kidney),1(pancreas) VHL 280 0 89 112 0.557213930348259 TRUE TRUE +ENSG00000131504.17 . BCM GRCh38.p13 chr5 141571925 141571925 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000131504.17 ENST00000389054.8:exon17:c.2473+1G>A . . 5q31.3 C3N-00310 . . . . . . . . . 6.6 . . . . . D . . . . . . . . . . . . . D D D . 5.696 34 0.993 D D 1.065 16.129 0.928 15.020 1.000 0.707 0.725 0.464 0.492 . 5.260 5.260 7.086 1.026 0.599 1.000 0.999 0.982 815 . . . . DIAPH1 413 0 416 167 0.286449399656947 TRUE TRUE +ENSG00000151849.15 . BCM GRCh38.p13 chr13 24905345 24905345 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000151849.15 ENST00000381884.9:exon7:c.2692+1G>C . . 13q12.13 C3N-00310 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.991 33 0.994 D . 1.116 18.223 0.965 16.837 1.000 0.295 0.304 0.138 0.090 0.981 5.880 5.880 4.432 0.997 0.599 1.000 0.927 0.726 884 . . . . CENPJ 98 0 95 41 0.301470588235294 TRUE TRUE +ENSG00000188529.15 . BCM GRCh38.p13 chr1 23975056 23975056 + A A C Silent SNP ENST00000492112.3 exon3 c.T192G p.A64A exonic ENSG00000188529.15 . synonymous SNV ENSG00000188529.15:ENST00000492112.3:exon3:c.T192G:p.A64A 1p36.11 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRSF10 176 0 155 77 0.331896551724138 TRUE TRUE +ENSG00000142748.12 . BCM GRCh38.p13 chr1 27373193 27373193 + A A G Silent SNP ENST00000270879.8 exon5 c.T336C p.P112P exonic ENSG00000142748.12 . synonymous SNV ENSG00000142748.12:ENST00000270879.8:exon5:c.T336C:p.P112P 1p36.11 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FCN3 165 0 97 48 0.331034482758621 TRUE TRUE +ENSG00000116329.11 . BCM GRCh38.p13 chr1 28859236 28859236 + C C T Silent SNP ENST00000234961.7 exon2 c.C510T p.I170I exonic ENSG00000116329.11 . synonymous SNV ENSG00000116329.11:ENST00000234961.7:exon2:c.C510T:p.I170I 1p35.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OPRD1 188 0 133 65 0.328282828282828 TRUE TRUE +ENSG00000143515.18 . BCM GRCh38.p13 chr1 154332636 154332636 + A A G Silent SNP ENST00000672630.1 exon9 c.A627G p.V209V exonic ENSG00000143515.18 . synonymous SNV ENSG00000143515.18:ENST00000672630.1:exon9:c.A627G:p.V209V 1q21.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP8B2 150 0 106 48 0.311688311688312 TRUE TRUE +ENSG00000160753.16 . BCM GRCh38.p13 chr1 155322772 155322772 + G G T Silent SNP ENST00000368352.10 exon2 c.G999T p.P333P exonic ENSG00000160753.16 . synonymous SNV ENSG00000160753.16:ENST00000368352.10:exon2:c.G999T:p.P333P 1q22 C3N-00310 8.457e-06 0 0 0 0 1.535e-05 0 0 rs751785225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RUSC1 86 0 58 34 0.369565217391304 TRUE NA +ENSG00000158864.12 . BCM GRCh38.p13 chr1 161209255 161209255 + T T C Silent SNP ENST00000367993.7 exon5 c.T456C p.S152S exonic ENSG00000158864.12 . synonymous SNV ENSG00000158864.12:ENST00000367993.7:exon5:c.T456C:p.S152S 1q23.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDUFS2 531 0 483 186 0.278026905829596 TRUE TRUE +ENSG00000118193.12 . BCM GRCh38.p13 chr1 200615606 200615606 + C C T Silent SNP ENST00000367350.5 exon3 c.G1116A p.E372E exonic ENSG00000118193.12 . synonymous SNV ENSG00000118193.12:ENST00000367350.5:exon3:c.G1116A:p.E372E 1q32.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF14 58 0 80 34 0.298245614035088 TRUE NA +ENSG00000257315.2 . BCM GRCh38.p13 chr1 203798080 203798080 + G G A Silent SNP ENST00000550078.2 exon1 c.G558A p.R186R exonic ENSG00000257315.2 . synonymous SNV ENSG00000257315.2:ENST00000550078.2:exon1:c.G558A:p.R186R 1q32.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBED6 159 0 124 60 0.326086956521739 TRUE NA +ENSG00000114698.15 . BCM GRCh38.p13 chr3 146195280 146195280 + G G A Silent SNP ENST00000354952.7 exon8 c.C789T p.V263V exonic ENSG00000114698.15 . synonymous SNV ENSG00000114698.15:ENST00000354952.7:exon8:c.C789T:p.V263V 3q24 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLSCR4 75 0 81 32 0.283185840707965 TRUE TRUE +ENSG00000128052.10 . BCM GRCh38.p13 chr4 55105914 55105914 + C C T Silent SNP ENST00000263923.5 exon12 c.G1563A p.A521A exonic ENSG00000128052.10 . synonymous SNV ENSG00000128052.10:ENST00000263923.5:exon12:c.G1563A:p.A521A 4q12 C3N-00310 8.238e-06 0 0 0 0 1.498e-05 0 0 rs200769864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55771803;OCCURENCE=2(large_intestine) KDR 441 0 384 175 0.313059033989267 TRUE TRUE +ENSG00000163453.11 . BCM GRCh38.p13 chr4 57110217 57110217 + C C T Silent SNP ENST00000295666.6 exon1 c.G135A p.P45P exonic ENSG00000163453.11 . synonymous SNV ENSG00000163453.11:ENST00000295666.6:exon1:c.G135A:p.P45P 4q12 C3N-00310 . . . . . . . . rs11555292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFBP7 44 0 27 18 0.4 TRUE NA +ENSG00000155850.8 . BCM GRCh38.p13 chr5 149980358 149980358 + A A C Silent SNP ENST00000286298.5 exon3 c.A765C p.G255G exonic ENSG00000155850.8 . synonymous SNV ENSG00000155850.8:ENST00000286298.5:exon3:c.A765C:p.G255G 5q32 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC26A2 167 1 160 95 0.372549019607843 TRUE TRUE +ENSG00000170927.15 . BCM GRCh38.p13 chr6 51847929 51847929 + T T G Silent SNP ENST00000371117.8 exon50 c.A7953C p.L2651L exonic ENSG00000170927.15 . synonymous SNV ENSG00000170927.15:ENST00000371117.8:exon50:c.A7953C:p.L2651L 6p12.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKHD1 183 0 177 113 0.389655172413793 TRUE TRUE +ENSG00000164458.9 . BCM GRCh38.p13 chr6 166162541 166162541 + G G A Silent SNP ENST00000296946.6 exon7 c.C810T p.L270L exonic ENSG00000164458.9 . synonymous SNV ENSG00000164458.9:ENST00000296946.6:exon7:c.C810T:p.L270L 6q27 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBXT 176 0 159 12 0.0701754385964912 TRUE TRUE +ENSG00000085514.16 . BCM GRCh38.p13 chr7 100374261 100374261 + G G A Silent SNP ENST00000198536.7 exon2 c.G282A p.V94V exonic ENSG00000085514.16 . synonymous SNV ENSG00000085514.16:ENST00000198536.7:exon2:c.G282A:p.V94V 7q22.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PILRA 466 1 377 121 0.242971887550201 NA TRUE +ENSG00000130714.17 . BCM GRCh38.p13 chr9 131510011 131510011 + C C T Silent SNP ENST00000372228.8 exon8 c.C714T p.V238V exonic ENSG00000130714.17 . synonymous SNV ENSG00000130714.17:ENST00000372228.8:exon8:c.C714T:p.V238V 9q34.13 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POMT1 457 0 393 155 0.282846715328467 TRUE TRUE +ENSG00000197768.10 . BCM GRCh38.p13 chr9 137251394 137251394 + C C G Silent SNP ENST00000388931.7 exon1 c.C108G p.T36T exonic ENSG00000197768.10 . synonymous SNV ENSG00000197768.10:ENST00000388931.7:exon1:c.C108G:p.T36T 9q34.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STPG3 73 0 77 42 0.352941176470588 TRUE TRUE +ENSG00000110713.17 . BCM GRCh38.p13 chr11 3702885 3702885 + C C T Silent SNP ENST00000359171.8 exon23 c.G3141A p.G1047G exonic ENSG00000110713.17 . synonymous SNV ENSG00000110713.17:ENST00000359171.8:exon23:c.G3141A:p.G1047G 11p15.4 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUP98 43 0 48 29 0.376623376623377 TRUE TRUE +ENSG00000110079.18 . BCM GRCh38.p13 chr11 60301045 60301045 + T T C Silent SNP ENST00000337908.5 exon4 c.T375C p.T125T exonic ENSG00000110079.18 . synonymous SNV ENSG00000110079.18:ENST00000337908.5:exon4:c.T375C:p.T125T 11q12.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MS4A4A 42 0 44 13 0.228070175438596 TRUE TRUE +ENSG00000149289.11 . BCM GRCh38.p13 chr11 110159404 110159404 + T T C Silent SNP ENST00000278590.8 exon4 c.T1062C p.D354D exonic ENSG00000149289.11 . synonymous SNV ENSG00000149289.11:ENST00000278590.8:exon4:c.T1062C:p.D354D 11q22.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZC3H12C 337 0 258 153 0.372262773722628 TRUE TRUE +ENSG00000135480.16 . BCM GRCh38.p13 chr12 52233428 52233428 + C C T Silent SNP ENST00000331817.6 exon1 c.C132T p.A44A exonic ENSG00000135480.16 . synonymous SNV ENSG00000135480.16:ENST00000331817.6:exon1:c.C132T:p.A44A 12q13.13 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT7 164 0 116 54 0.317647058823529 TRUE TRUE +ENSG00000136155.17 . BCM GRCh38.p13 chr13 77609058 77609058 + T T A Silent SNP ENST00000349847.4 exon21 c.T1218A p.G406G exonic ENSG00000136155.17 . synonymous SNV ENSG00000136155.17:ENST00000349847.4:exon21:c.T1218A:p.G406G 13q22.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCEL 40 0 29 15 0.340909090909091 TRUE TRUE +ENSG00000150401.15 . BCM GRCh38.p13 chr13 113480595 113480595 + T T C Silent SNP ENST00000478244.6 exon3 c.A369G p.L123L exonic ENSG00000150401.15 . synonymous SNV ENSG00000150401.15:ENST00000478244.6:exon3:c.A369G:p.L123L 13q34 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCUN1D2 155 1 138 87 0.386666666666667 TRUE TRUE +ENSG00000198718.13 . BCM GRCh38.p13 chr14 44963660 44963660 + C C A Silent SNP ENST00000361577.7 exon1 c.C1239A p.G413G exonic ENSG00000198718.13 . synonymous SNV ENSG00000198718.13:ENST00000361577.7:exon1:c.C1239A:p.G413G 14q21.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOGARAM1 97 0 71 34 0.323809523809524 TRUE TRUE +ENSG00000206190.12 . BCM GRCh38.p13 chr15 25716760 25716760 + G G A Silent SNP ENST00000555815.6 exon9 c.C1746T p.V582V exonic ENSG00000206190.12 . synonymous SNV ENSG00000206190.12:ENST00000555815.6:exon9:c.C1746T:p.V582V 15q12 C3N-00310 4.299e-05 9.666e-05 0 0 0 3.062e-05 0 0.0002 rs369407036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP10A 54 0 38 19 0.333333333333333 TRUE NA +ENSG00000169857.8 . BCM GRCh38.p13 chr15 33871003 33871003 + A A G Silent SNP ENST00000306730.8 exon4 c.T544C p.L182L exonic ENSG00000169857.8 . synonymous SNV ENSG00000169857.8:ENST00000306730.8:exon4:c.T544C:p.L182L 15q14 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AVEN 186 0 160 74 0.316239316239316 TRUE TRUE +ENSG00000007384.15 . BCM GRCh38.p13 chr16 64983 64983 + G G A Silent SNP ENST00000262316.10 exon2 c.C33T p.S11S exonic ENSG00000007384.15 . synonymous SNV ENSG00000007384.15:ENST00000262316.10:exon2:c.C33T:p.S11S 16p13.3 C3N-00310 . . . . . . . . rs909695870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RHBDF1 24 0 22 16 0.421052631578947 TRUE NA +ENSG00000169344.15 . BCM GRCh38.p13 chr16 20348884 20348884 + C C G Silent SNP ENST00000302509.8 exon3 c.G417C p.A139A exonic ENSG00000169344.15 . synonymous SNV ENSG00000169344.15:ENST00000302509.8:exon3:c.G417C:p.A139A 16p12.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UMOD 225 0 178 84 0.320610687022901 TRUE TRUE +ENSG00000077238.14 . BCM GRCh38.p13 chr16 27352560 27352560 + C C T Silent SNP ENST00000395762.7 exon7 c.C534T p.T178T exonic ENSG00000077238.14 . synonymous SNV ENSG00000077238.14:ENST00000395762.7:exon7:c.C534T:p.T178T 16p12.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL4R 161 0 134 61 0.312820512820513 TRUE TRUE +ENSG00000169682.18 . BCM GRCh38.p13 chr16 28981532 28981532 + A A C Silent SNP ENST00000311008.16 exon6 c.A726C p.P242P exonic ENSG00000169682.18 . synonymous SNV ENSG00000169682.18:ENST00000311008.16:exon6:c.A726C:p.P242P 16p11.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPNS1 278 0 198 72 0.266666666666667 TRUE TRUE +ENSG00000205336.13 . BCM GRCh38.p13 chr16 57651411 57651411 + C C G Silent SNP ENST00000568909.5 exon3 c.C276G p.L92L exonic ENSG00000205336.13 . synonymous SNV ENSG00000205336.13:ENST00000568909.5:exon3:c.C276G:p.L92L 16q21 C3N-00310 . . . . . . . . . 3.7 . . . . . D . . D . . . . . . 0.991 . . . T T . T 0.543 6.947 0.585 D N . . . . 0.999 0.707 0.611 0.576 0.714 . 5.360 -1.960 0.170 0.101 0.596 0.994 0.999 0.966 923 . . . . ADGRG1 576 0 532 216 0.288770053475936 TRUE TRUE +ENSG00000181409.14 . BCM GRCh38.p13 chr17 81134419 81134419 + G G A Silent SNP ENST00000326724.9 exon2 c.C138T p.I46I exonic ENSG00000181409.14 . synonymous SNV ENSG00000181409.14:ENST00000326724.9:exon2:c.C138T:p.I46I 17q25.3 C3N-00310 . . . . . . . . rs746392822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AATK 249 0 179 73 0.28968253968254 TRUE NA +ENSG00000141568.21 . BCM GRCh38.p13 chr17 82584157 82584157 + C C T Silent SNP ENST00000335255.10 exon6 c.C1248T p.I416I exonic ENSG00000141568.21 . synonymous SNV ENSG00000141568.21:ENST00000335255.10:exon6:c.C1248T:p.I416I 17q25.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXK2 119 0 79 51 0.392307692307692 TRUE TRUE +ENSG00000171105.14 . BCM GRCh38.p13 chr19 7132225 7132225 + G G A Silent SNP ENST00000302850.10 exon14 c.C2775T p.I925I exonic ENSG00000171105.14 . synonymous SNV ENSG00000171105.14:ENST00000302850.10:exon14:c.C2775T:p.I925I 19p13.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INSR 403 0 320 158 0.330543933054393 TRUE TRUE +ENSG00000242220.9 . BCM GRCh38.p13 chr21 32578805 32578805 + A A T Silent SNP ENST00000300258.8 exon4 c.T387A p.I129I exonic ENSG00000242220.9;ENSG00000265590.10 . synonymous SNV ENSG00000242220.9:ENST00000300258.8:exon4:c.T387A:p.I129I,ENSG00000265590.10:ENST00000673807.1:exon7:c.T909A:p.I303I 21q22.11 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCP10L 177 0 185 77 0.293893129770992 NA TRUE +ENSG00000179840.5 . BCM GRCh38.p13 chr1 9654248 9654248 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000179840.5 . . . 1p36.22 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3CD-AS1 567 0 442 212 0.324159021406728 TRUE NA +ENSG00000198797.7 . BCM GRCh38.p13 chr1 177257110 177257110 + T T C Intron SNP NA NA NA NA intronic ENSG00000198797.7 . . . 1q25.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRINP2 201 0 163 78 0.323651452282158 TRUE NA +ENSG00000079308.19 . BCM GRCh38.p13 chr2 217842159 217842159 + C C G Intron SNP NA NA NA NA intronic ENSG00000079308.19 . . . 2q35 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNS1 136 0 87 51 0.369565217391304 TRUE NA +ENSG00000064042.18 . BCM GRCh38.p13 chr4 41670768 41670768 + C C T Intron SNP NA NA NA NA intronic ENSG00000064042.18 . . . 4p13 C3N-00310 . . . . . . . . rs757602137 2.5 . . . . . D . . . 0.391 . . . . . . . . . T T . . 2.390 22.000 0.998 D N 0.243 3.500 0.352 4.032 1.000 0.487 0.574 0.547 0.542 . 5.390 5.390 5.243 1.026 0.599 1.000 0.909 0.980 658 . . . ID=COSV58285020;OCCURENCE=1(central_nervous_system),2(stomach) LIMCH1 198 0 153 70 0.31390134529148 TRUE TRUE +ENSG00000146540.15 . BCM GRCh38.p13 chr7 1028303 1028303 + C C T Intron SNP NA NA NA NA intronic ENSG00000146540.15 . . . 7p22.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C7orf50 30 0 20 7 0.259259259259259 TRUE TRUE +ENSG00000179869.15 . BCM GRCh38.p13 chr7 48403953 48403953 + T T G Intron SNP NA NA NA NA intronic ENSG00000179869.15 . . . 7p12.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCA13 131 0 101 54 0.348387096774194 TRUE NA +ENSG00000244560.7 . BCM GRCh38.p13 chr7 149295029 149295029 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000244560.7 . . . 7q36.1 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC004890.2 48 0 36 15 0.294117647058824 TRUE NA +ENSG00000136918.7 . BCM GRCh38.p13 chr9 124855851 124855851 + G G C Intron SNP NA NA NA NA intronic ENSG00000136918.7 . . . 9q33.3 C3N-00310 . . . . . . . . . 1.6 . D . . . N . . . 0.125 . . . . . 0.315 . . . T T . T 0.924 10.700 0.836 N . . . . . 1.000 0.068 0.048 0.058 0.051 0.424 4.220 -1.770 -0.274 1.176 0.676 0.000 0.339 0.751 868 . . . . WDR38 268 0 208 91 0.304347826086957 TRUE TRUE +ENSG00000107821.15 . BCM GRCh38.p13 chr10 101067948 101067948 + C C T 3'Flank SNP NA NA NA NA downstream ENSG00000107821.15 dist=889 . . 10q24.31 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KAZALD1 144 0 111 51 0.314814814814815 TRUE NA +ENSG00000254872.3 . BCM GRCh38.p13 chr11 1088113 1088113 + C C T IGR SNP NA NA NA NA intergenic ENSG00000254872.3;ENSG00000198788.8 dist=32364;dist=14342 . . 11p15.5 C3N-00310 9.41e-06 0 0 0 0 0 0 7.457e-05 rs766848359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02688 73 0 54 31 0.364705882352941 TRUE NA +ENSG00000258167.1 . BCM GRCh38.p13 chr12 40464129 40464129 + G G C IGR SNP NA NA NA NA intergenic ENSG00000258167.1;ENSG00000205592.14 dist=20282;dist=63928 . . 12q12 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC107023.1 148 0 99 60 0.377358490566038 TRUE NA +ENSG00000102081.15 . BCM GRCh38.p13 chrX 147949325 147949325 + G G C 3'UTR SNP NA NA NA NA UTR3 ENSG00000102081.15 ENST00000370475.9:c.*481G>C . . Xq27.3 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMR1 86 1 54 34 0.386363636363636 TRUE NA +ENSG00000197142.10 . BCM GRCh38.p13 chr10 112417018 112417019 + TC TC AT Unknown MNP ENST00000393081.5 exon13 c.1214_1215delinsAT p.I405N exonic ENSG00000197142.10 . nonframeshift substitution ENSG00000197142.10:ENST00000393081.5:exon13:c.1214_1215delinsAT:p.I405N 10q25.2 C3N-00310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACSL5 89 0 77 28 0.266666666666667 TRUE TRUE +ENSG00000142609.18 . BCM GRCh38.p13 chr1 1922376 1922378 + GTG GTG - In_Frame_Del DEL ENST00000493964.5 exon38 c.4664_4666del p.P1555del exonic ENSG00000142609.18 . nonframeshift deletion ENSG00000142609.18:ENST00000493964.5:exon38:c.4664_4666del:p.P1555del 1p36.33 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP74 53 0 22 4 0.153846153846154 TRUE TRUE +ENSG00000158161.16 . BCM GRCh38.p13 chr1 27978390 27978390 + T T A Missense_Mutation SNP ENST00000373871.8 exon17 c.A1625T p.E542V exonic ENSG00000158161.16 . nonsynonymous SNV ENSG00000158161.16:ENST00000373871.8:exon17:c.A1625T:p.E542V 1p35.3 C3N-00312 . . . . . . . . . 19.20 D D D D D D M D D 0.864 D D D 0.915 0.600 0.908 2.832 T D D D D D 4.652 32 0.992 D D 0.819 9.160 0.789 9.812 1.000 0.706 0.654 0.710 0.714 . 5.630 5.630 7.991 1.138 0.665 1.000 1.000 0.994 584 EYA_domain . . . EYA3 94 0 35 24 0.406779661016949 TRUE TRUE +ENSG00000137941.17 . BCM GRCh38.p13 chr1 83907584 83907584 + A A - Frame_Shift_Del DEL ENST00000260505.13 exon16 c.1864delT p.S622Lfs*5 exonic ENSG00000137941.17 . frameshift deletion ENSG00000137941.17:ENST00000260505.13:exon16:c.1864delT:p.S622Lfs*5 1p31.1 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTLL7 356 0 241 72 0.230031948881789 TRUE TRUE +ENSG00000116793.16 . BCM GRCh38.p13 chr1 113710291 113710291 + C C T Missense_Mutation SNP ENST00000369604.6 exon11 c.G1232A p.G411E exonic ENSG00000116793.16 . nonsynonymous SNV ENSG00000116793.16:ENST00000369604.6:exon11:c.G1232A:p.G411E 1p13.2 C3N-00312 . . . . . . . . . 10.19 T T D D N D M . N 0.518 T T T 0.139 0.211 0.275 0.587 T T D D D D 2.990 23.400 0.998 D D 0.419 4.463 0.508 5.231 1.000 0.707 0.725 0.725 0.714 . 5.730 5.730 2.979 1.018 0.592 0.939 0.999 0.998 641 . . . . PHTF1 294 0 179 65 0.266393442622951 TRUE TRUE +ENSG00000270629.6 . BCM GRCh38.p13 chr1 148537993 148537993 + G G C Missense_Mutation SNP ENST00000614999.4 exon60 c.C7441G p.L2481V exonic ENSG00000270629.6 . nonsynonymous SNV ENSG00000270629.6:ENST00000614999.4:exon60:c.C7441G:p.L2481V 1q21.2 C3N-00312 . . . . . . . . . 2.11 . D . . . N . . . 0.112 T T T 0.142 . 0.040 . . . T T T D 1.607 16.420 0.992 N N -0.646 0.906 -0.900 0.620 0.000 0.428 0.547 0.547 0.613 . 0.301 0.301 0.985 0.323 0.323 0.994 0.003 0.005 929 Neuroblastoma_breakpoint_family_(NBPF)_domain . . . NBPF14 68 0 44 18 0.290322580645161 NA TRUE +ENSG00000132692.19 . BCM GRCh38.p13 chr1 156656976 156656976 + G G T Missense_Mutation SNP ENST00000329117.10 exon10 c.G2089T p.G697C exonic ENSG00000132692.19 . nonsynonymous SNV ENSG00000132692.19:ENST00000329117.10:exon10:c.G2089T:p.G697C 1q23.1 C3N-00312 . . . . . . . . . 16.20 D D D D D D M T D 0.876 T T D 0.563 0.592 0.630 0.524 T D D D D D 4.335 29.900 0.997 D D 0.878 10.490 0.755 8.907 1.000 0.789 0.476 0.768 0.555 . 5.290 5.290 8.136 1.176 0.676 1.000 0.948 0.873 779 C-type_lectin-like . . . BCAN 140 0 93 35 0.2734375 TRUE TRUE +ENSG00000143341.12 . BCM GRCh38.p13 chr1 186087506 186087506 + C C A Missense_Mutation SNP ENST00000271588.9 exon60 c.C9224A p.T3075N exonic ENSG00000143341.12 . nonsynonymous SNV ENSG00000143341.12:ENST00000271588.9:exon60:c.C9224A:p.T3075N 1q31.1 C3N-00312 . . . . . . . . . 3.19 T T D P N N N T N 0.132 T T D 0.143 0.340 0.601 0.441 T . T T D T 1.230 13.870 0.882 N N -0.458 1.261 -0.549 1.124 0.048 0.615 0.574 0.602 0.655 . 5.590 3.710 1.428 -0.229 -0.800 0.001 0.034 0.268 453 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . HMCN1 451 1 285 99 0.2578125 TRUE TRUE +ENSG00000042781.14 . BCM GRCh38.p13 chr1 215634582 215634582 + A A - Frame_Shift_Del DEL ENST00000307340.8 exon70 c.15174delT p.L5059Cfs*3 exonic ENSG00000042781.14 . frameshift deletion ENSG00000042781.14:ENST00000307340.8:exon70:c.15174delT:p.L5059Cfs*3 1q41 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USH2A 305 0 166 82 0.330645161290323 TRUE TRUE +ENSG00000154358.21 . BCM GRCh38.p13 chr1 228286877 228286877 + T T C Missense_Mutation SNP ENST00000422127.5 exon35 c.T9382C p.W3128R exonic ENSG00000154358.21 . nonsynonymous SNV ENSG00000154358.21:ENST00000422127.5:exon35:c.T9382C:p.W3128R 1q42.13 C3N-00312 . . . . . . . . . 17.20 D D D D D D H D D 0.861 D D D 0.871 0.917 0.964 0.653 T T D D D T 3.778 25.700 0.938 D D 0.790 8.585 0.617 6.443 0.405 0.646 0.574 0.645 0.621 . 5.080 5.080 4.038 1.138 0.609 1.000 0.889 0.312 422 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . OBSCN 175 0 143 43 0.231182795698925 TRUE TRUE +ENSG00000198128.4 . BCM GRCh38.p13 chr1 248061507 248061507 + T T G Missense_Mutation SNP ENST00000641649.1 exon3 c.T826G p.F276V exonic ENSG00000198128.4 . nonsynonymous SNV ENSG00000198128.4:ENST00000641649.1:exon3:c.T826G:p.F276V 1q44 C3N-00312 . . . . . . . . . 7.20 D D D D U N M T D 0.191 T T T 0.045 0.539 0.322 0.402 T T T T D T 2.197 20.800 0.986 N N -0.226 1.804 -0.484 1.229 0.000 0.487 0.574 0.574 0.564 . 2.010 2.010 -0.464 0.634 0.550 0.000 0.024 0.064 912 GPCR,_rhodopsin-like,_7TM . . . OR2L3 261 0 216 50 0.18796992481203 NA TRUE +ENSG00000005448.17 . BCM GRCh38.p13 chr2 74425694 74425695 + GT GT - Nonstop_Mutation DEL ENST00000348227.4 exon10 c.998_999del p.*335delinsRRAAFLCPCGIHKVPAPP exonic ENSG00000005448.17 . stoploss ENSG00000005448.17:ENST00000348227.4:exon10:c.998_999del:p.*335delinsRRAAFLCPCGIHKVPAPP 2p13.1 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR54 140 0 78 31 0.284403669724771 TRUE TRUE +ENSG00000243290.3 . BCM GRCh38.p13 chr2 89040318 89040318 + C C - Frame_Shift_Del DEL ENST00000480492.1 exon2 c.257delG p.G86Afs*31 exonic ENSG00000243290.3 . frameshift deletion ENSG00000243290.3:ENST00000480492.1:exon2:c.257delG:p.G86Afs*31 2p11.2 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV1-12 209 0 157 34 0.178010471204188 NA TRUE +ENSG00000081479.15 . BCM GRCh38.p13 chr2 169247413 169247413 + A A C Missense_Mutation SNP ENST00000649046.1 exon20 c.T2873G p.L958R exonic ENSG00000081479.15 . nonsynonymous SNV ENSG00000081479.15:ENST00000649046.1:exon20:c.T2873G:p.L958R 2q31.1 C3N-00312 . . . . . . . . . 12.20 D D P P D D N D D 0.593 T T D 0.489 0.678 0.303 0.756 T T D T D D 2.687 22.800 0.985 D D -0.131 2.077 -0.102 2.042 0.963 0.615 0.574 0.659 0.564 . 5.800 3.320 7.002 1.298 0.691 1.000 0.007 0.141 899 . . . . LRP2 317 0 243 94 0.27893175074184 TRUE TRUE +ENSG00000138434.17 . BCM GRCh38.p13 chr2 181896932 181896932 + G G - Frame_Shift_Del DEL ENST00000431877.7 exon4 c.332delG p.S111Ifs*44 exonic ENSG00000138434.17 . frameshift deletion ENSG00000138434.17:ENST00000431877.7:exon4:c.332delG:p.S111Ifs*44 2q31.3 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITPRID2 197 0 124 25 0.167785234899329 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146573 10146573 + - NA A Frame_Shift_Ins NA ENST00000256474.3 exon2 c.401dupA p.L135Ifs*9 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon2:c.401dupA:p.L135Ifs*9 3p25.3 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52564170 52564170 + T T - Frame_Shift_Del DEL ENST00000296302.11 exon23 c.3755delA p.N1252Mfs*17 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon23:c.3755delA:p.N1252Mfs*17 3p21.1 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 371 0 137 99 0.419491525423729 TRUE TRUE +ENSG00000206384.10 . BCM GRCh38.p13 chr3 130610679 130610679 + G G C Missense_Mutation SNP ENST00000358511.10 exon22 c.G4783C p.E1595Q exonic ENSG00000206384.10 . nonsynonymous SNV ENSG00000206384.10:ENST00000358511.10:exon22:c.G4783C:p.E1595Q 3q22.1 C3N-00312 . . . . . . . . . 8.19 T D P P . N L D N 0.232 D D D 0.276 0.276 0.683 0.062 T T T T D D 2.997 23.400 0.990 D N 0.398 4.329 0.401 4.363 0.109 0.554 0.574 0.618 0.564 . 5.040 5.040 2.970 1.176 0.676 1.000 0.988 0.833 484 . . . . COL6A6 144 0 114 23 0.167883211678832 TRUE TRUE +ENSG00000144868.13 . BCM GRCh38.p13 chr3 133379940 133379940 + G G T Missense_Mutation SNP ENST00000321871.10 exon4 c.G229T p.A77S exonic ENSG00000144868.13 . nonsynonymous SNV ENSG00000144868.13:ENST00000321871.10:exon4:c.G229T:p.A77S 3q22.1 C3N-00312 . . . . . . . . . 3.20 D T P B N D L T N 0.242 T T D 0.031 0.302 0.068 0.315 T T T T T T 0.813 9.523 0.890 N N -0.533 1.112 -0.615 1.023 0.999 0.706 0.660 0.710 0.542 . 3.800 1.960 -0.032 1.083 0.674 0.917 0.255 0.027 482 . . . . TMEM108 95 0 60 29 0.325842696629214 TRUE TRUE +ENSG00000058063.16 . BCM GRCh38.p13 chr3 182873858 182873858 + G G C Missense_Mutation SNP ENST00000323116.10 exon19 c.G2095C p.G699R exonic ENSG00000058063.16 . nonsynonymous SNV ENSG00000058063.16:ENST00000323116.10:exon19:c.G2095C:p.G699R 3q26.33 C3N-00312 . . . . . . . . . 20.20 D D D D D D H D D 0.747 D D D 0.912 0.742 0.885 0.729 D D D D D D 4.252 29.100 0.999 D D 1.161 20.708 1.070 23.974 1.000 0.706 0.725 0.710 0.714 . 5.780 5.780 9.602 1.176 0.676 1.000 1.000 0.999 804 . . . . ATP11B 282 0 204 15 0.0684931506849315 TRUE TRUE +ENSG00000154556.18 . BCM GRCh38.p13 chr4 185652710 185652710 + C C T Missense_Mutation SNP ENST00000284776.11 exon7 c.G286A p.D96N exonic ENSG00000154556.18 . nonsynonymous SNV ENSG00000154556.18:ENST00000284776.11:exon7:c.G286A:p.D96N 4q35.1 C3N-00312 . . . . . . . . . 13.20 D D D D N D M T D 0.901 T T D 0.419 0.786 0.594 0.760 D T T T D D 4.240 29.000 0.999 D D 0.498 5.019 0.556 5.711 1.000 0.722 0.588 0.699 0.714 . 5.160 5.160 7.323 1.026 0.599 1.000 0.987 0.876 718 SoHo_domain . . . SORBS2 198 0 128 50 0.280898876404494 TRUE TRUE +ENSG00000113575.10 . BCM GRCh38.p13 chr5 134225798 134225798 + G G T Missense_Mutation SNP ENST00000481195.6 exon1 c.C64A p.Q22K exonic ENSG00000113575.10;ENSG00000272772.1 . nonsynonymous SNV ENSG00000113575.10:ENST00000481195.6:exon1:c.C64A:p.Q22K,ENSG00000272772.1:ENST00000519718.1:exon1:c.C64A:p.Q22K 5q31.1 C3N-00312 . . . . . . . . . 11.19 D D B B D D M T N 0.517 T T D 0.256 0.389 0.365 0.870 . T D T D D 3.322 24.200 0.991 D D 0.322 3.894 0.441 4.664 1.000 0.442 0.522 0.522 0.562 . 5.100 5.100 7.164 1.162 0.673 1.000 1.000 0.997 268 . . . . PPP2CA 224 0 163 44 0.21256038647343 TRUE TRUE +ENSG00000173214.7 . BCM GRCh38.p13 chr6 111266395 111266395 + T T A Missense_Mutation SNP ENST00000671876.2 exon4 c.T833A p.F278Y exonic ENSG00000173214.7 . nonsynonymous SNV ENSG00000173214.7:ENST00000671876.2:exon4:c.T833A:p.F278Y 6q21 C3N-00312 . . . . . . . . . 14.19 D D D D D D . T D 0.809 T T D 0.438 0.694 0.709 0.428 T T D D D D 3.914 26.400 0.996 D D 0.848 9.791 0.804 10.232 1.000 0.563 0.654 0.609 0.636 . 6.050 6.050 7.257 1.129 0.654 1.000 0.830 0.860 632 Major_facilitator_superfamily_domain . . . MFSD4B 169 1 119 41 0.25625 TRUE TRUE +ENSG00000112031.16 . BCM GRCh38.p13 chr6 153002498 153002498 + T T G Missense_Mutation SNP ENST00000367233.10 exon1 c.A188C p.E63A exonic ENSG00000112031.16 . nonsynonymous SNV ENSG00000112031.16:ENST00000367233.10:exon1:c.A188C:p.E63A 6q25.2 C3N-00312 . . . . . . . . . 1.20 T T P B N N L T N 0.249 T T T 0.056 0.370 0.502 0.552 T T T T T T 1.464 15.500 0.963 D N -0.460 1.257 -0.462 1.265 1.000 0.733 0.601 0.601 0.562 . 4.900 4.900 1.422 0.205 0.665 0.109 0.000 0.002 710 . . . . MTRF1L 496 0 331 100 0.232018561484919 NA TRUE +ENSG00000211696.2 . BCM GRCh38.p13 chr7 38330641 38330641 + G G T Missense_Mutation SNP ENST00000390343.2 exon2 c.C56A p.S19Y exonic ENSG00000211696.2 . nonsynonymous SNV ENSG00000211696.2:ENST00000390343.2:exon2:c.C56A:p.S19Y 7p14.1 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRGV8 128 0 56 38 0.404255319148936 NA TRUE +ENSG00000186472.20 . BCM GRCh38.p13 chr7 83134576 83134576 + T T C Missense_Mutation SNP ENST00000333891.14 exon3 c.A2974G p.K992E exonic ENSG00000186472.20 . nonsynonymous SNV ENSG00000186472.20:ENST00000333891.14:exon3:c.A2974G:p.K992E 7q21.11 C3N-00312 . . . . . . . . . 5.17 D T P P . D . T N 0.391 T T T 0.099 0.273 0.192 0.045 T . T T D T 2.763 22.900 0.930 D D 0.409 4.400 0.408 4.417 0.770 0.554 0.574 0.618 0.568 . 5.540 5.540 7.466 1.138 0.665 1.000 0.121 0.579 857 . . . . PCLO 234 0 170 62 0.267241379310345 TRUE NA +ENSG00000197343.11 . BCM GRCh38.p13 chr7 99572377 99572377 + A A G Missense_Mutation SNP ENST00000252713.9 exon3 c.A269G p.Y90C exonic ENSG00000197343.11 . nonsynonymous SNV ENSG00000197343.11:ENST00000252713.9:exon3:c.A269G:p.Y90C 7q22.1 C3N-00312 3.303e-05 0 0.0002 0 0 3.002e-05 0 0 rs774474239 1.20 T D B B N N N T N 0.144 T T T 0.050 . 0.030 0.325 T T T T T T 0.187 2.978 0.795 N N -1.617 0.051 -1.694 0.052 0.810 0.707 0.725 0.609 0.674 . 4.320 -8.630 -1.827 -2.381 -0.571 0.000 0.121 0.979 273 . . . ID=COSV53159970;OCCURENCE=1(pancreas) ZNF655 124 0 71 30 0.297029702970297 TRUE TRUE +ENSG00000174469.23 . BCM GRCh38.p13 chr7 148409424 148409424 + G G A Missense_Mutation SNP ENST00000361727.8 exon23 c.G3749A p.G1250D exonic ENSG00000174469.23 . nonsynonymous SNV ENSG00000174469.23:ENST00000361727.8:exon23:c.G3749A:p.G1250D 7q36.1 C3N-00312 . . . . . . . . . 11.20 T T B B D D M D N 0.292 T D D 0.304 0.543 0.843 0.132 T T D D D T 2.339 21.800 0.995 D D -0.038 2.380 0.113 2.790 0.999 0.732 0.574 0.744 0.564 . 3.880 3.880 6.103 1.172 0.667 1.000 1.000 0.999 824 . . . . CNTNAP2 344 0 289 16 0.0524590163934426 TRUE TRUE +ENSG00000171316.12 . BCM GRCh38.p13 chr8 60853224 60853224 + G G A Missense_Mutation SNP ENST00000423902.7 exon31 c.G6499A p.V2167I exonic ENSG00000171316.12 . nonsynonymous SNV ENSG00000171316.12:ENST00000423902.7:exon31:c.G6499A:p.V2167I 8q12.2 C3N-00312 . . . . . . . . rs971937875 1.20 T T B B N N N T N 0.062 T T D 0.099 0.203 0.516 0.127 T T T T T T 1.282 14.250 0.706 N N -0.810 0.641 -0.778 0.789 1.000 0.707 0.725 0.725 0.662 . 5.230 3.360 1.254 1.176 0.676 0.711 0.022 0.015 810 . . . . CHD7 226 0 76 59 0.437037037037037 TRUE NA +ENSG00000196152.10 . BCM GRCh38.p13 chr9 127444300 127444300 + A A C Missense_Mutation SNP ENST00000342483.5 exon5 c.A600C p.K200N exonic ENSG00000196152.10 . nonsynonymous SNV ENSG00000196152.10:ENST00000342483.5:exon5:c.A600C:p.K200N 9q33.3 C3N-00312 . . . . . . . . . 7.19 D D D P . D M T D 0.506 T T T 0.045 0.485 0.611 0.609 T T T T D T 2.694 22.800 0.996 N N 0.191 3.263 0.057 2.566 1.000 0.251 0.553 0.465 0.549 . 4.010 2.870 0.218 1.116 0.754 0.015 0.964 0.406 510 Zinc_finger_C2H2-type . . . ZNF79 183 0 163 9 0.0523255813953488 TRUE NA +ENSG00000152779.14 . BCM GRCh38.p13 chr10 89438779 89438779 + C C G Missense_Mutation SNP ENST00000371790.5 exon6 c.G853C p.V285L exonic ENSG00000152779.14 . nonsynonymous SNV ENSG00000152779.14:ENST00000371790.5:exon6:c.G853C:p.V285L 10q23.31 C3N-00312 . . . . . . . . . 6.16 T T . . D D . T N 0.329 T T D 0.084 . 0.468 0.226 T . T T D D 1.698 17.020 0.985 D N -0.392 1.401 -0.326 1.511 0.914 0.638 0.563 0.653 0.634 . 5.620 4.720 1.616 1.026 0.599 0.790 0.922 0.700 872 Major_facilitator_superfamily_domain . . . SLC16A12 274 0 210 73 0.257950530035336 TRUE TRUE +ENSG00000166189.8 . BCM GRCh38.p13 chr10 102066103 102066103 + C C G Missense_Mutation SNP ENST00000299238.7 exon1 c.C629G p.P210R exonic ENSG00000166189.8 . nonsynonymous SNV ENSG00000166189.8:ENST00000299238.7:exon1:c.C629G:p.P210R 10q24.32 C3N-00312 2.536e-05 0 0 0 0 0 0 0.0002 rs753587696 2.20 T D B B N N M T N 0.270 T T T 0.084 0.444 0.320 1.198 T T T T T T 2.634 22.700 0.990 N N -0.294 1.628 -0.164 1.875 1.000 0.726 0.522 0.522 0.604 . 4.910 2.970 1.037 0.129 -0.175 0.003 0.681 0.279 527 . . . . HPS6 421 0 279 95 0.254010695187166 TRUE NA +ENSG00000107957.16 . BCM GRCh38.p13 chr10 103603663 103603663 + G G A Missense_Mutation SNP ENST00000369774.8 exon15 c.C1555T p.R519W exonic ENSG00000107957.16 . nonsynonymous SNV ENSG00000107957.16:ENST00000369774.8:exon15:c.C1555T:p.R519W 10q24.33 C3N-00312 . . . . . . . . . 16.20 D D D D D D M T D 0.742 T T D 0.331 0.322 0.702 1.129 D T D D D D 4.371 31 0.999 D D 0.595 5.873 0.560 5.756 1.000 0.696 0.654 0.723 0.700 . 5.470 4.570 5.046 1.101 0.590 1.000 0.996 0.979 84 . . . ID=COSV60118315;OCCURENCE=1(urinary_tract) SH3PXD2A 67 0 31 11 0.261904761904762 TRUE TRUE +ENSG00000069482.7 . BCM GRCh38.p13 chr11 68690983 68690983 + C C A Missense_Mutation SNP ENST00000265643.4 exon6 c.C368A p.S123Y exonic ENSG00000069482.7 . nonsynonymous SNV ENSG00000069482.7:ENST00000265643.4:exon6:c.C368A:p.S123Y 11q13.2 C3N-00312 . . . . . . . . . 5.20 D D D P N N L T N 0.206 T T T 0.100 0.439 0.526 0.632 T T T T D T 3.042 23.500 0.994 D N 0.174 3.190 0.066 2.599 0.992 0.744 0.590 0.780 0.584 . 3.790 2.850 3.040 0.941 0.599 0.974 0.211 0.020 809 Galanin_message_associated_peptide_(GMAP) . . . GAL 236 1 147 45 0.234375 TRUE TRUE +ENSG00000137474.22 . BCM GRCh38.p13 chr11 77177633 77177633 + T T G Missense_Mutation SNP ENST00000409709.9 exon19 c.T2272G p.F758V exonic ENSG00000137474.22 . nonsynonymous SNV ENSG00000137474.22:ENST00000409709.9:exon19:c.T2272G:p.F758V 11q13.5 C3N-00312 . . . . . . . . . 10.20 T T B B D D L T D 0.811 T T D 0.391 0.550 0.853 0.132 T D D T D D 3.226 23.900 0.948 D D -0.164 1.981 -0.008 2.332 0.999 0.554 0.590 0.602 0.563 . 5.030 5.030 3.202 1.138 0.654 0.999 0.964 0.966 603 IQ_motif,_EF-hand_binding_site . . . MYO7A 126 0 87 43 0.330769230769231 TRUE TRUE +ENSG00000109971.14 . BCM GRCh38.p13 chr11 123058330 123058330 + T T A Missense_Mutation SNP ENST00000534624.6 exon8 c.A1677T p.Q559H exonic ENSG00000109971.14 . nonsynonymous SNV ENSG00000109971.14:ENST00000534624.6:exon8:c.A1677T:p.Q559H 11q24.1 C3N-00312 . . . . . . . . . 5.20 D D B P N D L T N 0.330 T T T 0.079 0.276 0.234 . T T T T D T 2.969 23.300 0.994 D N -0.423 1.334 -0.450 1.286 1.000 0.722 0.672 0.699 0.639 . 4.910 -3.210 -0.046 0.016 0.661 0.835 1.000 0.998 931 . . . . HSPA8 247 0 137 40 0.225988700564972 NA TRUE +ENSG00000167566.17 . BCM GRCh38.p13 chr12 49795876 49795876 + G G A Missense_Mutation SNP ENST00000335999.7 exon8 c.C1984T p.R662W exonic ENSG00000167566.17 . nonsynonymous SNV ENSG00000167566.17:ENST00000335999.7:exon8:c.C1984T:p.R662W 12q13.12 C3N-00312 7.239e-05 0 0.0006 0 0 6.338e-05 0 0 rs766675424 9.15 D D . . N D . T D 0.689 T T D 0.161 0.184 0.332 0.420 T . D T D . 3.382 24.400 0.999 D D 0.275 3.653 0.214 3.253 0.964 0.660 0.694 0.723 0.636 . 4.310 2.400 0.619 1.176 0.676 0.511 0.998 0.998 336 . . . . NCKAP5L 57 0 28 11 0.282051282051282 TRUE NA +ENSG00000166888.12 . BCM GRCh38.p13 chr12 57104579 57104579 + T T C Missense_Mutation SNP ENST00000300134.8 exon11 c.A1097G p.K366R exonic ENSG00000166888.12 . nonsynonymous SNV ENSG00000166888.12:ENST00000300134.8:exon11:c.A1097G:p.K366R 12q13.3 C3N-00312 . . . . . . . . . 11.20 T T D P D D L T N 0.618 T T D 0.615 0.760 0.917 1.189 T D D D D D 4.221 28.900 0.998 D D 0.501 5.041 0.513 5.275 1.000 0.707 0.698 0.725 0.714 . 4.440 4.440 8.000 1.134 0.661 1.000 1.000 0.981 226 STAT_transcription_factor,_DNA-binding . . . STAT6 113 0 70 37 0.345794392523364 TRUE TRUE +ENSG00000166006.14 . BCM GRCh38.p13 chr12 75048273 75048273 + G G T Missense_Mutation SNP ENST00000549446.6 exon4 c.C1660A p.P554T exonic ENSG00000166006.14 . nonsynonymous SNV ENSG00000166006.14:ENST00000549446.6:exon4:c.C1660A:p.P554T 12q21.1 C3N-00312 . . . . . . . . . 16.20 D D D P N D M D D 0.676 D D D 0.593 0.227 0.904 1.793 T T D D D D 3.925 26.500 0.998 D D 0.641 6.368 0.679 7.378 0.937 0.487 0.574 0.574 0.564 . 5.550 5.550 7.199 1.176 0.618 1.000 1.000 0.999 928 . . . . KCNC2 155 0 76 34 0.309090909090909 TRUE TRUE +ENSG00000120798.17 . BCM GRCh38.p13 chr12 95062704 95062704 + T T A Missense_Mutation SNP ENST00000333003.10 exon3 c.A89T p.Q30L exonic ENSG00000120798.17 . nonsynonymous SNV ENSG00000120798.17:ENST00000333003.10:exon3:c.A89T:p.Q30L 12q22 C3N-00312 . . . . . . . . . 17.20 D D D D D D M D N 0.739 D D D 0.853 0.606 0.655 0.034 T T D D D D 4.082 27.600 0.996 D D 0.765 8.132 0.737 8.508 1.000 0.707 0.725 0.725 0.714 . 5.790 5.790 7.667 1.138 0.665 1.000 1.000 0.927 930 . . . . NR2C1 261 0 166 77 0.316872427983539 TRUE TRUE +ENSG00000122970.16 . BCM GRCh38.p13 chr12 110135379 110135379 + G G A Missense_Mutation SNP ENST00000242591.10 exon7 c.G638A p.R213Q exonic ENSG00000122970.16 . nonsynonymous SNV ENSG00000122970.16:ENST00000242591.10:exon7:c.G638A:p.R213Q 12q24.11 C3N-00312 5.807e-05 0 0 0.0008 0 0 0 0 rs767705291 18.20 D D D D D D M T D 0.966 D D D 0.612 0.384 0.882 0.646 T D D D D D 4.271 29.300 1.000 D D 0.858 10.032 0.842 11.488 1.000 0.707 0.688 0.725 0.636 . 5.290 5.290 9.356 1.176 0.676 1.000 1.000 1.000 738 . . . . IFT81 126 1 44 22 0.333333333333333 TRUE NA +ENSG00000089154.11 . BCM GRCh38.p13 chr12 120174133 120174133 + G G A Missense_Mutation SNP ENST00000300648.7 exon13 c.C1130T p.P377L exonic ENSG00000089154.11 . nonsynonymous SNV ENSG00000089154.11:ENST00000300648.7:exon13:c.C1130T:p.P377L 12q24.23 C3N-00312 . . . . . . . . . 2.15 T T . . N D . T N 0.206 T T T 0.083 0.548 0.043 0.180 T . T T T . 2.370 22.000 0.901 D N -0.365 1.460 -0.176 1.843 0.018 0.707 0.702 0.702 0.714 . 4.880 2.630 3.516 1.176 0.676 0.994 0.998 0.982 444 . . . . GCN1 181 0 90 42 0.318181818181818 TRUE TRUE +ENSG00000139679.15 . BCM GRCh38.p13 chr13 48411668 48411668 + A A C Nonsense_Mutation SNP ENST00000378434.8 exon7 c.T756G p.Y252X exonic ENSG00000139679.15 . stopgain ENSG00000139679.15:ENST00000378434.8:exon7:c.T756G:p.Y252X 13q14.2 C3N-00312 . . . . . . . . . 5.6 . . . . D D . . . 0.879 . . . . . . . . . D D . . 6.460 36 0.994 D N 0.272 3.637 0.101 2.739 1.000 0.493 0.587 0.507 0.373 . 5.890 0.692 0.891 -0.053 -0.054 1.000 0.998 0.998 861 GPCR,_rhodopsin-like,_7TM . . . LPAR6 166 0 94 30 0.241935483870968 TRUE NA +ENSG00000196383.6 . BCM GRCh38.p13 chr14 20002328 20002328 + A A G Missense_Mutation SNP ENST00000622436.1 exon1 c.A166G p.N56D exonic ENSG00000196383.6 . nonsynonymous SNV ENSG00000196383.6:ENST00000622436.1:exon1:c.A166G:p.N56D 14q11.2 C3N-00312 . . . . . . . . . 0.6 . . . . . . . . . . . . . . . 0.187 . . T T T . T 1.015 11.810 0.983 N N . . . . 0.000 0.061 0.063 0.063 0.057 . 3.700 2.440 0.489 0.185 0.740 0.001 0.003 0.068 988 GPCR,_rhodopsin-like,_7TM . . . OR4Q2 61 0 28 14 0.333333333333333 TRUE TRUE +ENSG00000119596.18 . BCM GRCh38.p13 chr14 74809462 74809462 + C C A Nonsense_Mutation SNP ENST00000325680.12 exon7 c.C4604A p.S1535X exonic ENSG00000119596.18 . stopgain ENSG00000119596.18:ENST00000325680.12:exon7:c.C4604A:p.S1535X 14q24.3 C3N-00312 . . . . . . . . . 4.6 . . . . N A . . . 0.109 . . . . . . . . . D D . . 7.698 39 0.995 D N 0.817 9.129 0.692 7.597 1.000 0.707 0.725 0.725 0.714 . 5.180 5.180 3.690 1.026 0.549 1.000 1.000 0.999 707 . . . ID=COSV53119977;OCCURENCE=1(liver) YLPM1 217 1 75 68 0.475524475524476 TRUE TRUE +ENSG00000138622.4 . BCM GRCh38.p13 chr15 73323812 73323812 + C C T Missense_Mutation SNP ENST00000261917.4 exon8 c.G2281A p.A761T exonic ENSG00000138622.4 . nonsynonymous SNV ENSG00000138622.4:ENST00000261917.4:exon8:c.G2281A:p.A761T 15q24.1 C3N-00312 . . . . . . . . . 1.19 T T B B . N L T N 0.117 T T T 0.075 0.477 0.334 0.168 T T T T T T 2.138 20.400 0.968 D N -0.679 0.848 -0.527 1.159 0.983 0.696 0.547 0.723 0.563 . 3.450 2.420 1.574 1.021 0.545 1.000 0.795 0.962 653 . . . . HCN4 85 0 109 51 0.31875 TRUE TRUE +ENSG00000259511.2 . BCM GRCh38.p13 chr15 84174042 84174042 + C C G Missense_Mutation SNP ENST00000558195.2 exon2 c.C119G p.T40R exonic ENSG00000259511.2 . nonsynonymous SNV ENSG00000259511.2:ENST00000558195.2:exon2:c.C119G:p.T40R 15q25.2 C3N-00312 . . . . . . . . . 1.12 D T . . . N N . N 0.128 . . T . . 0.092 . . T T T . T -0.165 0.606 0.432 N N . . . . 0.000 0.554 0.588 0.618 0.621 . . . -1.325 -0.815 -2.124 0.003 0.201 0.010 788 . . . . UBE2Q2L 60 0 37 4 0.0975609756097561 NA TRUE +ENSG00000129925.11 . BCM GRCh38.p13 chr16 376666 376666 + G G T Missense_Mutation SNP ENST00000431232.7 exon5 c.C782A p.A261D exonic ENSG00000129925.11 . nonsynonymous SNV ENSG00000129925.11:ENST00000431232.7:exon5:c.C782A:p.A261D 16p13.3 C3N-00312 . . . . . . . . . 0.20 T T B B N N L T N 0.227 T T T 0.011 0.323 0.092 0.064 T T T T T T -0.089 0.875 0.246 N N -1.200 0.227 -1.292 0.214 0.199 0.707 0.702 0.702 0.714 . 4.100 -2.740 -0.890 -1.000 -0.169 0.000 0.000 0.010 798 . . . . PGAP6 109 1 58 24 0.292682926829268 TRUE TRUE +ENSG00000162104.10 . BCM GRCh38.p13 chr16 4114812 4114812 + C C A Missense_Mutation SNP ENST00000294016.8 exon2 c.G631T p.A211S exonic ENSG00000162104.10 . nonsynonymous SNV ENSG00000162104.10:ENST00000294016.8:exon2:c.G631T:p.A211S 16p13.3 C3N-00312 . . . . . . . . . 0.20 T T B B N N L T N 0.086 T T T 0.024 0.445 0.361 0.382 T T T T T T 0.557 7.086 0.878 N N -0.674 0.856 -0.724 0.866 1.000 0.653 0.588 0.619 0.669 . 5.410 3.460 0.169 0.128 0.599 0.002 0.001 0.030 847 . . . . ADCY9 348 0 202 60 0.229007633587786 TRUE TRUE +ENSG00000157429.16 . BCM GRCh38.p13 chr16 71478953 71478953 + G G T Missense_Mutation SNP ENST00000288177.10 exon4 c.C86A p.T29N exonic ENSG00000157429.16;ENSG00000261611.6 . nonsynonymous SNV ENSG00000157429.16:ENST00000288177.10:exon4:c.C86A:p.T29N,ENSG00000261611.6:ENST00000561908.1:exon4:c.C86A:p.T29N 16q22.2 C3N-00312 . . . . . . . . . 0.20 T T B B N N L T N 0.165 T T T 0.030 0.359 0.124 0.059 T T T T T T 0.812 9.507 0.892 N N -0.958 0.451 -0.999 0.490 0.770 0.651 0.709 0.659 0.639 . 3.000 0.964 -0.664 0.161 0.676 0.000 0.831 0.904 262 Krueppel-associated_box . . . ZNF19 176 0 125 37 0.228395061728395 TRUE TRUE +ENSG00000169992.10 . BCM GRCh38.p13 chr17 7408593 7408593 + C C T Missense_Mutation SNP ENST00000302926.7 exon1 c.C338T p.A113V exonic ENSG00000169992.10 . nonsynonymous SNV ENSG00000169992.10:ENST00000302926.7:exon1:c.C338T:p.A113V 17p13.1 C3N-00312 . . . . . . . . . 4.18 T T B B D D N T N 0.081 T T D 0.097 0.485 0.171 1.118 T T T T D . 2.002 19.280 0.988 N . -0.624 0.945 -0.537 1.143 1.000 0.789 0.588 0.768 0.700 . 3.420 2.450 1.033 0.935 0.579 0.486 1.000 1.000 203 Carboxylesterase,_type_B . . . NLGN2 226 0 265 114 0.300791556728232 TRUE TRUE +ENSG00000166582.10 . BCM GRCh38.p13 chr17 16344602 16344602 + C C A Missense_Mutation SNP ENST00000299736.5 exon4 c.G689T p.G230V exonic ENSG00000166582.10 . nonsynonymous SNV ENSG00000166582.10:ENST00000299736.5:exon4:c.G689T:p.G230V 17p11.2 C3N-00312 . . . . . . . . . 7.17 T T P P N D . . D 0.892 T T T 0.403 0.561 0.490 1.978 T . D D D T 2.732 22.900 0.959 D D 0.461 4.744 0.465 4.858 1.000 0.732 0.644 0.644 0.728 . 4.870 4.870 7.368 1.026 0.594 1.000 0.463 0.511 672 . . . . CENPV 110 0 58 31 0.348314606741573 TRUE TRUE +ENSG00000108684.14 . BCM GRCh38.p13 chr17 34156097 34156097 + A A G Missense_Mutation SNP ENST00000359872.6 exon1 c.T436C p.Y146H exonic ENSG00000108684.14 . nonsynonymous SNV ENSG00000108684.14:ENST00000359872.6:exon1:c.T436C:p.Y146H 17q12 C3N-00312 . . . . . . . . . 3.19 T T B B . N L T N 0.238 T T T 0.130 0.525 0.358 . T T T T T D 3.195 23.900 0.978 D D -0.051 2.336 0.115 2.795 1.000 0.583 0.563 0.615 0.530 . 4.960 4.960 5.152 1.312 0.756 1.000 1.000 0.997 457 . . . . ASIC2 218 0 148 47 0.241025641025641 TRUE NA +ENSG00000186868.15 . BCM GRCh38.p13 chr17 45991531 45991531 + C C G Missense_Mutation SNP ENST00000262410.9 exon9 c.C1452G p.N484K exonic ENSG00000186868.15 . nonsynonymous SNV ENSG00000186868.15:ENST00000262410.9:exon9:c.C1452G:p.N484K 17q21.31 C3N-00312 . . . . . . . . . 10.20 D T D D D D M T D 0.481 T T T 0.188 0.343 0.566 0.637 T D T T D D 1.876 18.300 0.994 N N -0.405 1.372 -0.588 1.065 0.312 0.554 0.588 0.602 0.568 . 4.910 -5.330 -1.891 -0.987 0.599 0.007 0.774 0.997 379 . . . . MAPT 289 0 228 71 0.237458193979933 TRUE TRUE +ENSG00000125447.18 . BCM GRCh38.p13 chr17 75239927 75239927 + G G A Missense_Mutation SNP ENST00000537686.6 exon13 c.C1445T p.S482F exonic ENSG00000125447.18 . nonsynonymous SNV ENSG00000125447.18:ENST00000537686.6:exon13:c.C1445T:p.S482F 17q25.1 C3N-00312 . . . . . . . . . 0.18 . T B B N N N T . 0.259 T T T 0.039 0.331 0.151 . T T T T T T 1.306 14.430 0.676 N N -1.257 0.189 -1.103 0.373 0.994 0.646 0.698 0.696 0.711 . 4.220 1.920 1.827 -0.109 -0.137 0.914 0.125 0.235 958 . . . . GGA3 175 0 94 42 0.308823529411765 TRUE NA +ENSG00000079805.17 . BCM GRCh38.p13 chr19 10830278 10830278 + C C A Missense_Mutation SNP ENST00000355667.10 exon20 c.C2443A p.P815T exonic ENSG00000079805.17 . nonsynonymous SNV ENSG00000079805.17:ENST00000355667.10:exon20:c.C2443A:p.P815T 19p13.2 C3N-00312 . . . . . . . . . 12.20 D D D D D D M T N 0.206 T T D 0.135 0.250 0.671 0.372 T D T T D D 1.781 17.590 0.986 D N 0.311 3.835 0.271 3.554 1.000 0.672 0.702 0.644 0.711 . 5.360 4.330 1.194 1.022 0.594 0.168 0.994 0.931 516 . . . . DNM2 236 0 135 65 0.325 TRUE TRUE +ENSG00000197863.9 . BCM GRCh38.p13 chr19 36819650 36819650 + C C A Missense_Mutation SNP ENST00000356725.9 exon5 c.G694T p.G232W exonic ENSG00000197863.9 . nonsynonymous SNV ENSG00000197863.9:ENST00000356725.9:exon5:c.G694T:p.G232W 19q13.12 C3N-00312 . . . . . . . . . 8.19 D D D D . D M T D 0.362 T T T 0.139 0.695 0.472 0.355 T T T T D T 2.510 22.400 0.993 N N 0.197 3.291 0.025 2.446 0.028 0.476 0.602 0.447 0.528 . 2.890 0.619 0.463 0.927 0.243 0.139 0.975 0.971 588 Zinc_finger_C2H2-type . . . ZNF790 68 0 24 5 0.172413793103448 TRUE TRUE +ENSG00000099338.23 . BCM GRCh38.p13 chr19 38346595 38346595 + C C G Missense_Mutation SNP ENST00000409235.8 exon7 c.C815G p.S272C exonic ENSG00000099338.23 . nonsynonymous SNV ENSG00000099338.23:ENST00000409235.8:exon7:c.C815G:p.S272C 19q13.2 C3N-00312 . . . . . . . . . 1.20 T T D P N N L T N 0.322 T T T 0.081 0.368 0.146 0.703 T T T T T T 1.355 14.770 0.956 N N -0.448 1.281 -0.633 0.996 0.014 0.554 0.551 0.602 0.564 . 5.100 0.556 0.328 -0.216 0.549 0.006 0.000 0.004 614 . . . . CATSPERG 128 0 78 26 0.25 TRUE NA +ENSG00000196218.13 . BCM GRCh38.p13 chr19 38455250 38455250 + G G A Missense_Mutation SNP ENST00000359596.8 exon14 c.G1456A p.V486I exonic ENSG00000196218.13 . nonsynonymous SNV ENSG00000196218.13:ENST00000359596.8:exon14:c.G1456A:p.V486I 19q13.2 C3N-00312 . . . . . . . . . 13.19 T . D D U D L D N 0.341 D D D 0.547 0.608 0.992 0.917 T D D T D D 3.127 23.700 0.997 D D 0.510 5.115 0.482 5.002 0.998 0.784 0.578 0.827 0.553 . 3.970 3.970 8.140 1.157 0.654 1.000 1.000 0.995 609 RIH_domain . . . RYR1 431 0 272 76 0.218390804597701 TRUE TRUE +ENSG00000198093.11 . BCM GRCh38.p13 chr19 51891017 51891017 + G G - Frame_Shift_Del DEL ENST00000354957.8 exon5 c.1119delC p.F374Lfs*88 exonic ENSG00000198093.11 . frameshift deletion ENSG00000198093.11:ENST00000354957.8:exon5:c.1119delC:p.F374Lfs*88 19q13.41 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF649 132 0 70 45 0.391304347826087 TRUE TRUE +ENSG00000131042.14 . BCM GRCh38.p13 chr19 54275986 54275986 + T T C Missense_Mutation SNP ENST00000391749.4 exon13 c.A1615G p.T539A exonic ENSG00000131042.14 . nonsynonymous SNV ENSG00000131042.14:ENST00000391749.4:exon13:c.A1615G:p.T539A 19q13.42 C3N-00312 . . . . . . . . . 0.15 T T . . . N . T N 0.189 T T T 0.039 0.170 0.260 0.229 T . T T T T 0.604 7.546 0.972 N N -0.346 1.504 -0.652 0.969 0.459 0.624 0.660 0.578 0.613 . 1.820 -0.580 -0.780 -0.052 0.468 0.000 0.012 0.498 994 . . . . LILRB2 160 0 85 13 0.13265306122449 NA TRUE +ENSG00000125503.13 . BCM GRCh38.p13 chr19 55092489 55092489 + G G C Missense_Mutation SNP ENST00000263433.8 exon18 c.C2008G p.P670A exonic ENSG00000125503.13 . nonsynonymous SNV ENSG00000125503.13:ENST00000263433.8:exon18:c.C2008G:p.P670A 19q13.42 C3N-00312 . . . . . . . . . 1.20 T T B B N N L T N 0.261 T T D 0.054 0.105 0.650 0.357 T T T T T T 1.209 13.710 0.889 N N -0.999 0.405 -1.003 0.485 0.999 0.726 0.744 0.594 0.711 . 4.240 -0.436 0.526 0.108 0.511 0.000 0.099 0.240 988 . . . . PPP1R12C 198 0 121 42 0.257668711656442 TRUE TRUE +ENSG00000152763.17 . BCM GRCh38.p13 chr1 66847482 66847482 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000152763.17 ENST00000371026.8:exon8:c.1291+2T>A . . 1p31.3 C3N-00312 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.023 33 0.992 D . 1.042 15.305 0.876 12.761 0.307 0.054 0.061 0.060 0.063 0.955 5.030 5.030 6.839 1.207 0.756 1.000 0.990 0.815 719 . . . . WDR78 173 2 112 56 0.333333333333333 TRUE TRUE +ENSG00000070814.22 . BCM GRCh38.p13 chr5 150379531 150379531 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000070814.22 ENST00000377797.7:exon17:c.2659-1G>C . . 5q32 C3N-00312 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.356 30 0.984 D . 0.791 8.608 0.556 5.708 1.000 0.257 0.272 0.320 0.118 0.963 5.630 5.630 2.758 1.176 0.676 0.463 0.011 0.028 856 . . . . TCOF1 380 0 270 100 0.27027027027027 TRUE TRUE +ENSG00000136770.11 . BCM GRCh38.p13 chr10 21919830 21919830 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000136770.11 ENST00000376980.8:exon5:c.635+2T>C . . 10p12.31 C3N-00312 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.539 32 0.994 D . 1.102 17.607 0.955 16.318 1.000 0.263 0.305 0.060 0.057 0.980 5.910 5.910 6.485 1.312 0.756 1.000 0.863 0.867 659 . . . . DNAJC1 95 0 35 26 0.426229508196721 TRUE TRUE +ENSG00000030582.18 . BCM GRCh38.p13 chr17 44351548 44351548 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000030582.18 ENST00000053867.8:exon10:c.934-2A>G . . 17q21.31 C3N-00312 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.728 32 0.995 D . 0.938 12.079 0.761 9.058 1.000 0.257 0.272 0.284 0.376 0.959 5.290 5.290 5.935 1.312 0.756 0.964 0.813 0.642 501 . . . . GRN 338 0 191 58 0.232931726907631 TRUE TRUE +ENSG00000147400.10 . BCM GRCh38.p13 chrX 152829600 152829600 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000147400.10 ENST00000370277.5:exon2:c.162+2C>T . . Xq28 C3N-00312 . . . . . . . . . 1.4 . . . . . D . . . . . . . . . . . . . T T . . 1.766 17.480 0.839 N . . . . . 1.000 . . . . 0.526 3.910 -1.510 1.237 -0.101 0.671 1.000 0.921 0.898 446 . . . . CETN2 30 0 11 21 0.65625 TRUE TRUE +ENSG00000121904.17 . BCM GRCh38.p13 chr1 33602515 33602515 + G G A Silent SNP ENST00000373388.6 exon44 c.C6570T p.N2190N exonic ENSG00000121904.17 . synonymous SNV ENSG00000121904.17:ENST00000373388.6:exon44:c.C6570T:p.N2190N 1p35.1 C3N-00312 7.666e-05 0 9.675e-05 0 0 8.538e-05 0 0.0002 rs377152497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53949553;OCCURENCE=1(pancreas) CSMD2 86 0 40 13 0.245283018867925 TRUE TRUE +ENSG00000144152.13 . BCM GRCh38.p13 chr2 112185322 112185322 + C C T Silent SNP ENST00000331203.7 exon7 c.C930T p.Y310Y exonic ENSG00000144152.13 . synonymous SNV ENSG00000144152.13:ENST00000331203.7:exon7:c.C930T:p.Y310Y 2q13 C3N-00312 1.65e-05 9.612e-05 0 0 0 0 0 6.093e-05 rs148395500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55617192;OCCURENCE=1(prostate) FBLN7 85 0 55 24 0.30379746835443 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178715599 178715599 + A A G Silent SNP ENST00000591111.5 exon87 c.T24864C p.A8288A exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon87:c.T24864C:p.A8288A 2q31.2 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 163 0 123 41 0.25 TRUE TRUE +ENSG00000198099.8 . BCM GRCh38.p13 chr4 99136511 99136511 + T T G Silent SNP ENST00000265512.11 exon5 c.A537C p.G179G exonic ENSG00000198099.8 . synonymous SNV ENSG00000198099.8:ENST00000265512.11:exon5:c.A537C:p.G179G 4q23 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADH4 184 0 117 48 0.290909090909091 TRUE TRUE +ENSG00000109332.20 . BCM GRCh38.p13 chr4 102809853 102809853 + T T C Silent SNP ENST00000453744.7 exon3 c.A27G p.E9E exonic ENSG00000109332.20 . synonymous SNV ENSG00000109332.20:ENST00000453744.7:exon3:c.A27G:p.E9E 4q24 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBE2D3 217 0 132 37 0.218934911242604 TRUE TRUE +ENSG00000123737.13 . BCM GRCh38.p13 chr4 121804705 121804705 + C C G Silent SNP ENST00000243498.10 exon5 c.C468G p.A156A exonic ENSG00000123737.13 . synonymous SNV ENSG00000123737.13:ENST00000243498.10:exon5:c.C468G:p.A156A 4q27 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXOSC9 128 0 91 25 0.21551724137931 TRUE TRUE +ENSG00000113231.14 . BCM GRCh38.p13 chr5 77337310 77337310 + A A G Silent SNP ENST00000264917.10 exon6 c.A792G p.K264K exonic ENSG00000113231.14;ENSG00000284762.1 . synonymous SNV ENSG00000113231.14:ENST00000264917.10:exon6:c.A792G:p.K264K,ENSG00000284762.1:ENST00000646262.1:exon8:c.A420G:p.K140K 5q13.3 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE8B 232 1 142 35 0.19774011299435 TRUE TRUE +ENSG00000151914.20 . BCM GRCh38.p13 chr6 56602969 56602969 + T T C Silent SNP ENST00000361203.7 exon39 c.A10587G p.V3529V exonic ENSG00000151914.20 . synonymous SNV ENSG00000151914.20:ENST00000361203.7:exon39:c.A10587G:p.V3529V 6p12.1 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DST 81 0 20 11 0.354838709677419 TRUE NA +ENSG00000118690.13 . BCM GRCh38.p13 chr6 108868988 108868988 + C C A Silent SNP ENST00000392644.9 exon4 c.C456A p.P152P exonic ENSG00000118690.13 . synonymous SNV ENSG00000118690.13:ENST00000392644.9:exon4:c.C456A:p.P152P 6q21 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARMC2 94 0 59 22 0.271604938271605 TRUE TRUE +ENSG00000065883.16 . BCM GRCh38.p13 chr7 39951676 39951676 + A A T Silent SNP ENST00000181839.10 exon1 c.A1035T p.G345G exonic ENSG00000065883.16 . synonymous SNV ENSG00000065883.16:ENST00000181839.10:exon1:c.A1035T:p.G345G 7p14.1 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDK13 29 0 9 5 0.357142857142857 TRUE TRUE +ENSG00000158321.18 . BCM GRCh38.p13 chr7 69599755 69599755 + G G T Silent SNP ENST00000342771.10 exon1 c.G102T p.A34A exonic ENSG00000158321.18 . synonymous SNV ENSG00000158321.18:ENST00000342771.10:exon1:c.G102T:p.A34A 7q11.22 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AUTS2 51 0 29 10 0.256410256410256 TRUE TRUE +ENSG00000198722.14 . BCM GRCh38.p13 chr9 35370318 35370318 + G G A Silent SNP ENST00000378495.7 exon12 c.G1215A p.G405G exonic ENSG00000198722.14 . synonymous SNV ENSG00000198722.14:ENST00000378495.7:exon12:c.G1215A:p.G405G 9p13.3 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13B 126 0 78 36 0.315789473684211 TRUE TRUE +ENSG00000169925.17 . BCM GRCh38.p13 chr9 134045347 134045347 + G G A Silent SNP ENST00000303407.12 exon7 c.C1161T p.C387C exonic ENSG00000169925.17 . synonymous SNV ENSG00000169925.17:ENST00000303407.12:exon7:c.C1161T:p.C387C 9q34.2 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRD3 191 0 120 49 0.289940828402367 TRUE NA +ENSG00000135424.18 . BCM GRCh38.p13 chr12 55688226 55688226 + C C T Silent SNP ENST00000555728.5 exon24 c.G3165A p.L1055L exonic ENSG00000135424.18 . synonymous SNV ENSG00000135424.18:ENST00000555728.5:exon24:c.G3165A:p.L1055L 12q13.2 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA7 524 0 320 125 0.280898876404494 TRUE TRUE +ENSG00000172137.19 . BCM GRCh38.p13 chr16 71384008 71384008 + C C T Silent SNP ENST00000302628.9 exon7 c.C516T p.G172G exonic ENSG00000172137.19 . synonymous SNV ENSG00000172137.19:ENST00000302628.9:exon7:c.C516T:p.G172G 16q22.2 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CALB2 177 0 138 55 0.284974093264249 TRUE TRUE +ENSG00000176014.13 . BCM GRCh38.p13 chr18 12311046 12311046 + C C T Silent SNP ENST00000317702.10 exon3 c.C270T p.F90F exonic ENSG00000176014.13 . synonymous SNV ENSG00000176014.13:ENST00000317702.10:exon3:c.C270T:p.F90F 18p11.21 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100480964;OCCURENCE=1(upper_aerodigestive_tract) TUBB6 261 2 196 64 0.246153846153846 TRUE NA +ENSG00000128016.7 . BCM GRCh38.p13 chr19 39408048 39408048 + G G T Silent SNP ENST00000597629.3 exon2 c.G330T p.R110R exonic ENSG00000128016.7 . synonymous SNV ENSG00000128016.7:ENST00000597629.3:exon2:c.G330T:p.R110R 19q13.2 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFP36 229 0 126 42 0.25 TRUE TRUE +ENSG00000124251.11 . BCM GRCh38.p13 chr20 45377325 45377325 + C C T Silent SNP ENST00000372726.5 exon3 c.G141A p.S47S exonic ENSG00000124251.11 . synonymous SNV ENSG00000124251.11:ENST00000372726.5:exon3:c.G141A:p.S47S 20q13.12 C3N-00312 3.297e-05 0.0002 0 0 0 0 0 0.0001 rs371140460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101022341;OCCURENCE=1(endometrium) TP53TG5 128 0 116 7 0.0569105691056911 TRUE NA +ENSG00000100201.22 . BCM GRCh38.p13 chr22 38487982 38487982 + T T C Silent SNP ENST00000396821.7 exon12 c.A1581G p.L527L exonic ENSG00000100201.22 . synonymous SNV ENSG00000100201.22:ENST00000396821.7:exon12:c.A1581G:p.L527L 22q13.1 C3N-00312 . . . . . . . . rs369638680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDX17 389 0 251 99 0.282857142857143 TRUE NA +ENSG00000112667.13 . BCM GRCh38.p13 chr6 43229069 43229069 + A A G Intron SNP NA NA NA NA intronic ENSG00000112667.13 . . . 6p21.1 C3N-00312 . . . . . . . . . 1.13 T D . . . N . . N . T T . 0.023 0.513 0.105 . . T T T T T 0.709 8.535 0.771 N N -0.937 0.475 -1.146 0.331 1.000 0.564 0.219 0.504 0.562 . 2.470 -1.620 -0.006 0.088 -0.099 0.001 0.001 0.010 374 . . . . DNPH1 91 0 69 8 0.103896103896104 TRUE TRUE +ENSG00000282408.1 . BCM GRCh38.p13 chr6 106451806 106451806 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000282408.1 . . . 6q21 C3N-00312 . . . . . . . . . 0.5 . T . . . . . . . 0.157 T T . 0.014 . . . . . . . . T 0.210 3.235 0.392 N . -0.773 0.695 -0.909 0.608 0.998 0.086 0.060 0.094 0.063 0.072 5.860 -0.464 -0.906 -0.269 -0.276 0.000 0.000 0.000 791 . . . . AL109920.3 123 0 101 51 0.335526315789474 TRUE NA +ENSG00000136807.14 . BCM GRCh38.p13 chr9 127786067 127786067 + C C A 5'UTR SNP NA NA NA NA UTR5 ENSG00000136807.14 ENST00000373264.5:c.-82C>A . . 9q34.11 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDK9 38 0 31 7 0.184210526315789 TRUE TRUE +ENSG00000148925.10 . BCM GRCh38.p13 chr11 13439981 13439981 + T T G Intron SNP NA NA NA NA intronic ENSG00000148925.10 . . . 11p15.3 C3N-00312 . . . . . . . . . 3.14 T T . . . D . T N 0.142 T T T 0.066 0.424 0.548 . . . T T T T 2.402 22.100 0.992 D D -0.212 1.844 -0.017 2.301 1.000 0.601 0.547 0.476 0.620 . 5.480 4.360 4.537 1.138 0.665 1.000 1.000 1.000 525 . . . . BTBD10 112 0 76 29 0.276190476190476 TRUE NA +ENSG00000133103.17 . BCM GRCh38.p13 chr13 39655666 39655666 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000133103.17 ENST00000455146.8:c.-61G>A . . 13q14.11 C3N-00312 0 0 0 0 0 0 0 0 rs770910922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COG6 185 1 254 75 0.227963525835866 TRUE NA +ENSG00000012048.23 . BCM GRCh38.p13 chr17 43044888 43044888 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000012048.23 ENST00000357654.9:c.*790G>T . . 17q21.31 C3N-00312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRCA1 30 0 12 7 0.368421052631579 TRUE NA +ENSG00000180198.16 . BCM GRCh38.p13 chr1 28536017 28536017 + C C A Missense_Mutation SNP ENST00000373833.10 exon10 c.C808A p.H270N exonic ENSG00000180198.16 . nonsynonymous SNV ENSG00000180198.16:ENST00000373833.10:exon10:c.C808A:p.H270N 1p35.3 C3N-00314 . . . . . . . . . 13.20 T T D D D D L D N 0.812 D D D 0.628 0.648 0.877 0.531 T T D T D D 2.468 22.300 0.987 D D 0.449 4.661 0.481 4.993 1.000 0.707 0.702 0.702 0.714 . 5.560 4.650 5.889 1.022 0.596 1.000 0.995 0.991 500 . . . . RCC1 66 0 52 12 0.1875 TRUE TRUE +ENSG00000146463.12 . BCM GRCh38.p13 chr1 35415684 35415684 + C C A Missense_Mutation SNP ENST00000314607.11 exon28 c.C4279A p.P1427T exonic ENSG00000146463.12 . nonsynonymous SNV ENSG00000146463.12:ENST00000314607.11:exon28:c.C4279A:p.P1427T 1p34.3 C3N-00314 . . . . . . . . . 10.20 D D D D D D L T N 0.566 T T T 0.165 0.315 0.043 1.502 T T T T D D 3.626 25.100 0.998 D D 0.765 8.139 0.764 9.135 1.000 0.732 0.725 0.744 0.714 . 5.630 5.630 5.726 1.026 0.599 1.000 0.999 0.999 543 Protein_of_unknown_function_DUF3504 . . . ZMYM4 167 0 120 25 0.172413793103448 TRUE TRUE +ENSG00000132773.12 . BCM GRCh38.p13 chr1 45341531 45341531 + T T A Missense_Mutation SNP ENST00000372090.6 exon4 c.T295A p.S99T exonic ENSG00000132773.12 . nonsynonymous SNV ENSG00000132773.12:ENST00000372090.6:exon4:c.T295A:p.S99T 1p34.1 C3N-00314 . . . . . . . . . 11.20 T D D D D D M T D 0.804 T T T 0.277 0.852 0.602 1.118 T T T T D D 2.774 23.000 0.992 D D 0.529 5.270 0.509 5.239 1.000 0.722 0.686 0.699 0.735 . 5.760 5.760 7.417 1.138 0.665 1.000 0.740 0.096 140 . . . . TOE1 126 0 79 20 0.202020202020202 TRUE TRUE +ENSG00000197915.7 . BCM GRCh38.p13 chr1 152220853 152220853 + T T A Missense_Mutation SNP ENST00000368801.4 exon3 c.A776T p.Q259L exonic ENSG00000197915.7 . nonsynonymous SNV ENSG00000197915.7:ENST00000368801.4:exon3:c.A776T:p.Q259L 1q21.3 C3N-00314 . . . . . . . . . 2.19 D T P B . N M T N 0.201 T T T 0.014 0.353 0.509 . T T T T T T 0.592 7.431 0.705 N N -0.818 0.629 -0.900 0.620 0.000 0.487 0.547 0.574 0.564 . 4.390 1.940 -1.450 0.913 0.616 0.000 0.002 0.001 570 . . . . HRNR 576 0 380 96 0.201680672268908 NA TRUE +ENSG00000186283.14 . BCM GRCh38.p13 chr1 179082340 179082340 + G G - Frame_Shift_Del DEL ENST00000367627.8 exon1 c.212delG p.W71Cfs*31 exonic ENSG00000186283.14 . frameshift deletion ENSG00000186283.14:ENST00000367627.8:exon1:c.212delG:p.W71Cfs*31 1q25.2 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOR3A 126 0 108 24 0.181818181818182 TRUE TRUE +ENSG00000042781.14 . BCM GRCh38.p13 chr1 216199688 216199688 + C C G Missense_Mutation SNP ENST00000307340.8 exon17 c.G3750C p.K1250N exonic ENSG00000042781.14 . nonsynonymous SNV ENSG00000042781.14:ENST00000307340.8:exon17:c.G3750C:p.K1250N 1q41 C3N-00314 . . . . . . . . . 1.20 T T B B N N N T N 0.240 T T D 0.065 0.368 0.700 0.034 T T T T T T 0.565 7.171 0.834 N N -0.820 0.626 -0.885 0.641 0.000 0.487 0.574 0.574 0.564 . 5.610 -0.824 -0.412 -0.725 0.599 0.000 0.000 0.093 849 Fibronectin_type_III . . ID=COSV56403783;OCCURENCE=2(lung) USH2A 229 0 144 29 0.167630057803468 TRUE TRUE +ENSG00000154309.8 . BCM GRCh38.p13 chr1 222943286 222943286 + G G A Missense_Mutation SNP ENST00000284476.7 exon2 c.G463A p.D155N exonic ENSG00000154309.8 . nonsynonymous SNV ENSG00000154309.8:ENST00000284476.7:exon2:c.G463A:p.D155N 1q41 C3N-00314 . . . . . . . . rs908032421 11.20 T T P B D D M D N 0.296 D D D 0.364 0.159 0.804 0.314 T T T T D D 3.045 23.500 0.999 D D 0.498 5.017 0.590 6.105 1.000 0.615 0.588 0.616 0.621 . 5.710 5.710 7.272 1.176 0.676 1.000 0.999 0.999 778 . . . . DISP1 125 0 69 21 0.233333333333333 TRUE NA +ENSG00000143514.17 . BCM GRCh38.p13 chr1 223793419 223793419 + T T C Missense_Mutation SNP ENST00000343537.12 exon14 c.A2746G p.K916E exonic ENSG00000143514.17 . nonsynonymous SNV ENSG00000143514.17:ENST00000343537.12:exon14:c.A2746G:p.K916E 1q41 C3N-00314 . . . . . . . . . 12.16 D D . . D D . T N 0.787 T T D 0.345 . 0.694 2.091 D . D D D D 4.149 28.200 0.998 D D 0.668 6.699 0.654 6.972 1.000 0.732 0.709 0.744 0.714 . 5.430 5.430 8.017 1.138 0.665 1.000 0.973 0.955 . . . . . TP53BP2 83 0 45 7 0.134615384615385 TRUE NA +ENSG00000150938.10 . BCM GRCh38.p13 chr2 36547025 36547025 + C C T Missense_Mutation SNP ENST00000280527.7 exon16 c.C2788T p.H930Y exonic ENSG00000150938.10 . nonsynonymous SNV ENSG00000150938.10:ENST00000280527.7:exon16:c.C2788T:p.H930Y 2p22.2 C3N-00314 . . . . . . . . . 0.20 T T B B N N N T N 0.141 T T T 0.068 0.316 0.155 0.275 T T T T T T 0.826 9.656 0.442 N N -1.017 0.387 -0.972 0.524 1.000 0.732 0.634 0.744 0.735 . 5.810 2.990 1.044 1.026 0.599 0.001 0.752 0.077 930 . . . . CRIM1 143 0 112 31 0.216783216783217 TRUE TRUE +ENSG00000143954.13 . BCM GRCh38.p13 chr2 79026713 79026713 + G G A Missense_Mutation SNP ENST00000272324.10 exon3 c.G77A p.G26D exonic ENSG00000143954.13 . nonsynonymous SNV ENSG00000143954.13:ENST00000272324.10:exon3:c.G77A:p.G26D 2p12 C3N-00314 . . . . . . . . . 7.20 D D D P N N M T D 0.564 T T T 0.139 0.431 0.676 0.080 T T T T D T 3.140 23.700 0.992 D N 0.446 4.644 0.309 3.772 0.001 0.487 0.574 0.574 0.564 . 5.050 4.170 1.222 1.147 0.651 0.984 0.132 0.020 979 . . . ID=COSV99709302;OCCURENCE=1(skin) REG3G 106 0 74 6 0.075 TRUE TRUE +ENSG00000136682.15 . BCM GRCh38.p13 chr2 113493948 113493948 + A A C Missense_Mutation SNP ENST00000259199.9 exon13 c.A905C p.N302T exonic ENSG00000136682.15 . nonsynonymous SNV ENSG00000136682.15:ENST00000259199.9:exon13:c.A905C:p.N302T 2q14.1 C3N-00314 . . . . . . . . . 0.20 T T B B N N L T N 0.236 T T T 0.020 0.436 0.043 . T T T T T T 1.329 14.600 0.950 N N -0.788 0.672 -0.729 0.858 0.000 0.693 0.659 0.659 0.564 . 2.850 0.032 0.524 0.198 -0.634 0.617 0.997 0.885 564 Cobalamin_(vitamin_B12)_biosynthesis_CobW-like,_C-terminal . . . CBWD2 106 0 83 21 0.201923076923077 NA TRUE +ENSG00000152128.13 . BCM GRCh38.p13 chr2 134466225 134466225 + C C A Missense_Mutation SNP ENST00000281924.6 exon6 c.G556T p.D186Y exonic ENSG00000152128.13 . nonsynonymous SNV ENSG00000152128.13:ENST00000281924.6:exon6:c.G556T:p.D186Y 2q21.3 C3N-00314 . . . . . . . . . 14.20 D D D D D D L T D 0.950 T T D 0.415 0.466 0.527 1.582 T T D D D D 5.603 34 0.995 D D 0.831 9.415 0.850 11.776 1.000 0.659 0.689 0.177 0.759 . 6.070 6.070 7.905 1.026 0.599 1.000 0.979 0.991 931 . . . . TMEM163 127 0 71 15 0.174418604651163 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178658738 178658738 + G G T Missense_Mutation SNP ENST00000591111.5 exon154 c.C34321A p.P11441T exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon154:c.C34321A:p.P11441T 2q31.2 C3N-00314 . . . . . . . . . 0.11 . . . . . N . T . 0.187 T T T 0.099 . 0.242 0.125 . . T T T T 0.338 4.727 0.764 N N -0.659 0.883 -0.750 0.829 0.003 0.554 0.588 0.574 0.621 . 4.160 0.981 0.181 0.174 0.508 0.000 0.000 0.628 441 . . . . TTN 103 0 92 18 0.163636363636364 NA TRUE +ENSG00000115020.17 . BCM GRCh38.p13 chr2 208345157 208345157 + C C A Missense_Mutation SNP ENST00000264380.9 exon33 c.C5074A p.Q1692K exonic ENSG00000115020.17 . nonsynonymous SNV ENSG00000115020.17:ENST00000264380.9:exon33:c.C5074A:p.Q1692K 2q34 C3N-00314 . . . . . . . . . 1.20 T T B B N N N T N 0.143 T T T 0.089 0.463 0.272 0.359 T T T T T T 0.596 7.474 0.140 D N -0.762 0.712 -0.588 1.064 0.068 0.732 0.709 0.744 0.684 . 5.420 4.520 0.019 1.008 0.549 0.747 0.969 0.746 758 . . . . PIKFYVE 283 0 219 47 0.176691729323308 TRUE TRUE +ENSG00000163673.7 . BCM GRCh38.p13 chr3 36737653 36737653 + C C T Missense_Mutation SNP ENST00000416516.2 exon2 c.G1007A p.R336Q exonic ENSG00000163673.7 . nonsynonymous SNV ENSG00000163673.7:ENST00000416516.2:exon2:c.G1007A:p.R336Q 3p22.2 C3N-00314 0.0003 0 0.0002 0 0 0.0005 0 0 rs202070330 2.20 T T D P N N L T N 0.175 T T D 0.139 . 0.819 0.247 T T T T T T 1.865 18.220 0.997 N N -0.015 2.460 -0.021 2.288 0.085 0.554 0.590 0.602 0.564 . 5.400 5.400 1.080 0.104 0.599 0.001 0.001 0.155 848 . . . . DCLK3 110 0 45 12 0.210526315789474 TRUE NA +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47123555 47123555 + C C A Nonsense_Mutation SNP ENST00000409792.3 exon3 c.G1081T p.E361X exonic ENSG00000181555.20 . stopgain ENSG00000181555.20:ENST00000409792.3:exon3:c.G1081T:p.E361X 3p21.31 C3N-00314 . . . . . . . . . 4.5 . . . . . A . . . 0.781 . . . . . . . . . D D . . 5.732 34 0.995 D N 1.109 17.902 0.949 16.039 1.000 0.707 0.725 0.609 0.714 . 5.000 5.000 4.799 1.026 0.599 1.000 1.000 0.998 13 . . . . SETD2 168 0 84 24 0.222222222222222 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52589217 52589217 + G G - Frame_Shift_Del DEL ENST00000296302.11 exon18 c.2818delC p.L940Sfs*74 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon18:c.2818delC:p.L940Sfs*74 3p21.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 74 0 25 12 0.324324324324324 TRUE TRUE +ENSG00000044524.11 . BCM GRCh38.p13 chr3 89127235 89127235 + C C A Missense_Mutation SNP ENST00000336596.7 exon2 c.C115A p.Q39K exonic ENSG00000044524.11 . nonsynonymous SNV ENSG00000044524.11:ENST00000336596.7:exon2:c.C115A:p.Q39K 3p11.1 C3N-00314 . . . . . . . . . 6.20 T T P D D D L T N 0.760 T T T 0.200 0.584 0.682 0.820 T T T T D T 3.207 23.900 0.973 D D 0.481 4.890 0.551 5.663 0.895 0.487 0.574 0.547 0.564 . 5.410 5.410 4.349 1.026 0.599 1.000 1.000 1.000 723 Ephrin_type-A_receptor_3,_ligand_binding_domain;Ephrin_receptor_ligand_binding_domain . . . EPHA3 137 0 66 21 0.241379310344828 TRUE NA +ENSG00000163530.4 . BCM GRCh38.p13 chr3 109309183 109309183 + C C G Missense_Mutation SNP ENST00000478945.1 exon4 c.G329C p.S110T exonic ENSG00000163530.4 . nonsynonymous SNV ENSG00000163530.4:ENST00000478945.1:exon4:c.G329C:p.S110T 3q13.13 C3N-00314 . . . . . . . . . 7.20 D D P B D N M T N 0.452 T T D 0.256 0.603 0.777 0.091 T T T T D T 1.780 17.590 0.973 D N -0.062 2.298 -0.106 2.029 0.000 0.706 0.574 0.710 0.564 . 4.420 3.540 1.703 0.101 -0.191 0.976 0.383 0.021 892 SAP_domain . . . DPPA2 183 0 122 31 0.202614379084967 TRUE TRUE +ENSG00000176542.10 . BCM GRCh38.p13 chr3 113658133 113658133 + C C A Missense_Mutation SNP ENST00000316407.9 exon7 c.G3549T p.E1183D exonic ENSG00000176542.10 . nonsynonymous SNV ENSG00000176542.10:ENST00000316407.9:exon7:c.G3549T:p.E1183D 3q13.2 C3N-00314 . . . . . . . . . 3.16 D T . . N D . T N 0.090 T T T 0.027 0.072 0.043 0.083 T . T T T T 0.418 5.622 0.997 D N -0.878 0.548 -0.806 0.749 0.759 0.651 0.654 0.659 0.684 . 5.430 1.510 -0.004 0.127 -0.193 0.328 0.424 0.974 439 . . . . USF3 272 1 183 30 0.140845070422535 TRUE TRUE +ENSG00000172752.14 . BCM GRCh38.p13 chr3 130413551 130413551 + G G T Nonsense_Mutation SNP ENST00000265379.10 exon21 c.G4669T p.E1557X exonic ENSG00000172752.14 . stopgain ENSG00000172752.14:ENST00000265379.10:exon21:c.G4669T:p.E1557X 3q22.1 C3N-00314 . . . . . . . . . 4.5 . . . . . A . . . 0.103 . . . . . . . . . D D . . 9.044 47 0.994 D N 0.500 5.038 0.294 3.683 0.005 0.487 0.574 0.574 0.564 . 5.350 3.180 2.165 1.083 0.676 1.000 0.102 0.024 370 . . . . COL6A5 193 0 108 21 0.162790697674419 TRUE TRUE +ENSG00000152580.8 . BCM GRCh38.p13 chr3 151438399 151438399 + T T - Frame_Shift_Del DEL ENST00000282466.3 exon6 c.6162delA p.D2055Ifs*4 exonic ENSG00000152580.8 . frameshift deletion ENSG00000152580.8:ENST00000282466.3:exon6:c.6162delA:p.D2055Ifs*4 3q25.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF10 195 0 117 37 0.24025974025974 TRUE TRUE +ENSG00000085276.19 . BCM GRCh38.p13 chr3 169115882 169115882 + C C A Missense_Mutation SNP ENST00000494292.6 exon8 c.G1990T p.A664S exonic ENSG00000085276.19 . nonsynonymous SNV ENSG00000085276.19:ENST00000494292.6:exon8:c.G1990T:p.A664S 3q26.2 C3N-00314 . . . . . . . . . 11.19 D T D D D D . T N 0.680 T T D 0.253 0.299 0.202 0.923 D T T T D D 3.566 24.900 0.996 D D 0.884 10.647 0.878 12.825 1.000 0.722 0.574 0.547 0.735 . 5.830 5.830 7.905 1.026 0.599 1.000 1.000 0.998 705 . . . . MECOM 239 0 147 49 0.25 TRUE TRUE +ENSG00000114770.17 . BCM GRCh38.p13 chr3 183967696 183967696 + T T C Missense_Mutation SNP ENST00000334444.11 exon12 c.A1832G p.Q611R exonic ENSG00000114770.17 . nonsynonymous SNV ENSG00000114770.17:ENST00000334444.11:exon12:c.A1832G:p.Q611R 3q27.1 C3N-00314 . . . . . . . . . 18.20 D D D D D D N D D 0.725 D D D 0.917 0.819 0.915 0.997 T D D D D D 4.697 32 0.999 D D 0.660 6.596 0.709 7.915 1.000 0.732 0.654 0.744 0.728 . 5.910 5.910 7.654 1.138 0.665 1.000 1.000 0.966 321 ABC_transporter-like;AAA+_ATPase_domain . . . ABCC5 114 1 80 16 0.166666666666667 TRUE TRUE +ENSG00000080493.17 . BCM GRCh38.p13 chr4 71546371 71546371 + G G T Missense_Mutation SNP ENST00000264485.11 exon19 c.G2464T p.D822Y exonic ENSG00000080493.17 . nonsynonymous SNV ENSG00000080493.17:ENST00000264485.11:exon19:c.G2464T:p.D822Y 4q13.3 C3N-00314 . . . . . . . . . 20.20 D D D D D D H D D 0.977 D D D 0.902 0.870 0.968 1.630 D D D D D D 4.660 32 0.996 D D 1.094 17.259 1.014 19.705 1.000 0.487 0.574 0.547 0.564 . 5.550 5.550 10.003 1.176 0.676 1.000 1.000 0.993 538 Bicarbonate_transporter,_C-terminal . . . SLC4A4 360 0 244 63 0.205211726384365 TRUE TRUE +ENSG00000164125.15 . BCM GRCh38.p13 chr4 158170616 158170616 + G G T Missense_Mutation SNP ENST00000296530.12 exon2 c.C760A p.P254T exonic ENSG00000164125.15 . nonsynonymous SNV ENSG00000164125.15:ENST00000296530.12:exon2:c.C760A:p.P254T 4q32.1 C3N-00314 . . . . . . . . . 0.16 T T . . N N . T N 0.062 T T T 0.007 0.228 0.030 0.173 T . T T T T -0.154 0.641 0.812 N N -1.506 0.079 -1.614 0.071 1.000 0.598 0.596 0.596 0.562 . 4.760 -9.510 -1.226 -0.141 0.676 0.000 0.001 0.044 640 . . . . GASK1B 356 2 165 49 0.228971962616822 TRUE TRUE +ENSG00000109762.16 . BCM GRCh38.p13 chr4 185310809 185310809 + G G C Missense_Mutation SNP ENST00000504273.5 exon7 c.G845C p.S282T exonic ENSG00000109762.16 . nonsynonymous SNV ENSG00000109762.16:ENST00000504273.5:exon7:c.G845C:p.S282T 4q35.1 C3N-00314 . . . . . . . . . 2.20 T T B B N D L T N 0.186 T T T 0.045 0.319 0.337 0.156 T T T T T T 1.028 11.980 0.923 D N -0.499 1.179 -0.394 1.383 1.000 0.731 0.750 0.744 0.636 . 5.590 1.940 2.675 -0.582 -0.751 1.000 0.671 0.511 858 . . . . SNX25 63 0 38 10 0.208333333333333 NA TRUE +ENSG00000039139.9 . BCM GRCh38.p13 chr5 13714446 13714446 + C C A Missense_Mutation SNP ENST00000265104.4 exon75 c.G13084T p.D4362Y exonic ENSG00000039139.9 . nonsynonymous SNV ENSG00000039139.9:ENST00000265104.4:exon75:c.G13084T:p.D4362Y 5p15.2 C3N-00314 . . . . . . . . . 14.19 D . D D D D M T D 0.797 T T D 0.499 0.594 0.758 0.527 T T D D D D 3.842 26.000 0.995 D D 0.841 9.641 0.737 8.510 1.000 0.554 0.574 0.618 0.567 . 5.110 5.110 7.903 1.026 0.599 1.000 0.998 0.782 812 Dynein_heavy_chain_domain . . . DNAH5 322 0 166 69 0.293617021276596 TRUE TRUE +ENSG00000132842.14 . BCM GRCh38.p13 chr5 78294476 78294476 + C C T Missense_Mutation SNP ENST00000255194.11 exon1 c.G104A p.G35D exonic ENSG00000132842.14 . nonsynonymous SNV ENSG00000132842.14:ENST00000255194.11:exon1:c.G104A:p.G35D 5q14.1 C3N-00314 . . . . . . . . . 10.20 D D B B N D L T D 0.767 T T D 0.207 0.107 0.712 1.238 T D D T D D 3.299 24.100 0.997 D N 0.119 2.960 0.264 3.515 1.000 0.442 0.522 0.522 0.562 . 5.230 5.230 4.041 1.022 0.596 1.000 1.000 0.992 786 . . . ID=COSV54877011;OCCURENCE=1(central_nervous_system) AP3B1 259 0 235 46 0.163701067615658 TRUE TRUE +ENSG00000197479.7 . BCM GRCh38.p13 chr5 141200112 141200112 + C C G Missense_Mutation SNP ENST00000354757.5 exon1 c.C338G p.P113R exonic ENSG00000197479.7 . nonsynonymous SNV ENSG00000197479.7:ENST00000354757.5:exon1:c.C338G:p.P113R 5q31.3 C3N-00314 . . . . . . . . . 12.19 D D D D . D M T D 0.712 T T D 0.296 0.527 0.777 0.874 T T T T D D 2.823 23.100 0.997 D D 0.300 3.780 0.046 2.524 0.990 0.517 0.574 0.479 0.613 . 2.800 1.900 3.029 0.038 0.328 0.915 0.001 0.860 679 Cadherin-like . . . PCDHB11 295 0 151 47 0.237373737373737 TRUE TRUE +ENSG00000082516.9 . BCM GRCh38.p13 chr5 154935933 154935933 + A A - Frame_Shift_Del DEL ENST00000285873.8 exon3 c.417delT p.F139Lfs*11 exonic ENSG00000082516.9 . frameshift deletion ENSG00000082516.9:ENST00000285873.8:exon3:c.417delT:p.F139Lfs*11 5q33.2 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GEMIN5 178 0 133 18 0.119205298013245 TRUE TRUE +ENSG00000124795.17 . BCM GRCh38.p13 chr6 18258402 18258402 + T T - Frame_Shift_Del DEL ENST00000652689.1 exon3 c.149delA p.K50Rfs*14 exonic ENSG00000124795.17 . frameshift deletion ENSG00000124795.17:ENST00000652689.1:exon3:c.149delA:p.K50Rfs*14 6p22.3 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DEK 134 0 93 21 0.184210526315789 TRUE TRUE +ENSG00000243649.9 . BCM GRCh38.p13 chr6 31951997 31951997 + - NA A Frame_Shift_Ins NA ENST00000425368.7 exon18 c.2263dupA p.L756Tfs*4 exonic ENSG00000243649.9;ENSG00000244255.5 . frameshift insertion ENSG00000243649.9:ENST00000425368.7:exon18:c.2263dupA:p.L756Tfs*4,ENSG00000244255.5:ENST00000456570.5:exon30:c.3769dupA:p.L1258Tfs*4 6p21.33 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFB NA NA NA NA NA NA NA +ENSG00000112175.8 . BCM GRCh38.p13 chr6 55819757 55819757 + G G T Missense_Mutation SNP ENST00000370830.4 exon2 c.C581A p.T194K exonic ENSG00000112175.8 . nonsynonymous SNV ENSG00000112175.8:ENST00000370830.4:exon2:c.C581A:p.T194K 6p12.1 C3N-00314 . . . . . . . . . 18.20 D D D D D D M T D 0.956 D T D 0.737 0.786 0.916 0.877 D D D D D D 4.085 27.600 0.995 D D 0.873 10.387 0.819 10.710 1.000 0.554 0.574 0.618 0.564 . 5.740 4.860 9.602 1.176 0.676 1.000 1.000 0.997 813 TGF-beta,_propeptide . . . BMP5 233 0 154 32 0.172043010752688 TRUE TRUE +ENSG00000213204.8 . BCM GRCh38.p13 chr6 87418396 87418396 + G G T Missense_Mutation SNP ENST00000369562.9 exon7 c.G820T p.V274F exonic ENSG00000213204.8;ENSG00000272514.6 . nonsynonymous SNV ENSG00000272514.6:ENST00000369562.9:exon7:c.G820T:p.V274F,ENSG00000213204.8:ENST00000507897.5:exon7:c.G820T:p.V274F 6q15 C3N-00314 . . . . . . . . . 1.18 T T B B N N . T N 0.197 T T T 0.035 0.459 0.197 0.236 . T T T T T 0.820 9.593 0.967 D N -0.940 0.472 -0.922 0.591 0.003 0.554 0.588 0.574 0.586 . 5.160 -6.980 0.167 -0.526 -0.241 0.882 0.942 0.976 819 . . . . AL049697.1 221 3 158 12 0.0705882352941176 TRUE TRUE +ENSG00000135334.9 . BCM GRCh38.p13 chr6 87701481 87701481 + G G - Frame_Shift_Del DEL ENST00000257787.6 exon1 c.204delC p.F69Sfs*17 exonic ENSG00000135334.9 . frameshift deletion ENSG00000135334.9:ENST00000257787.6:exon1:c.204delC:p.F69Sfs*17 6q15 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AKIRIN2 74 0 67 13 0.1625 TRUE TRUE +ENSG00000078269.15 . BCM GRCh38.p13 chr6 158068706 158068706 + G G T Missense_Mutation SNP ENST00000355585.9 exon13 c.G1777T p.A593S exonic ENSG00000078269.15 . nonsynonymous SNV ENSG00000078269.15:ENST00000355585.9:exon13:c.G1777T:p.A593S 6q25.3 C3N-00314 8.238e-06 0 0 0.0001 0 0 0 0 rs745840620 14.20 D D D D D D L T D 0.695 T T D 0.411 0.534 0.619 0.708 D D T T D D 4.165 28.300 0.997 D D 0.713 7.307 0.651 6.920 1.000 0.731 0.547 0.717 0.649 . 5.160 5.160 9.635 1.176 0.676 1.000 0.939 0.982 958 Endonuclease/exonuclease/phosphatase;Inositol_polyphosphate-related_phosphatase . . . SYNJ2 157 0 110 18 0.140625 TRUE NA +ENSG00000188883.5 . BCM GRCh38.p13 chr7 139479746 139479746 + C C A Missense_Mutation SNP ENST00000340940.5 exon3 c.G886T p.G296C exonic ENSG00000188883.5 . nonsynonymous SNV ENSG00000188883.5:ENST00000340940.5:exon3:c.G886T:p.G296C 7q34 C3N-00314 . . . . . . . . . 9.20 D D D D N D L T D 0.615 T T D 0.299 0.769 0.280 0.116 T T T T D T 3.823 25.900 0.997 D N 0.481 4.890 0.348 4.011 1.000 0.675 0.610 0.693 0.530 . 4.450 4.450 3.468 1.026 0.549 0.960 0.391 0.058 861 C-type_lectin-like;Natural_killer_cell_receptor-like,_C-type_lectin-like_domain . . . KLRG2 119 0 76 23 0.232323232323232 TRUE TRUE +ENSG00000174469.23 . BCM GRCh38.p13 chr7 147108292 147108294 + AGG AGG - In_Frame_Del DEL ENST00000361727.8 exon5 c.696_698del p.G233del exonic ENSG00000174469.23 . nonframeshift deletion ENSG00000174469.23:ENST00000361727.8:exon5:c.696_698del:p.G233del 7q35 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTNAP2 194 0 138 35 0.202312138728324 TRUE TRUE +ENSG00000265817.4 . BCM GRCh38.p13 chr8 94436717 94436717 + A A C Missense_Mutation SNP ENST00000481490.3 exon1 c.T152G p.V51G exonic ENSG00000265817.4 . nonsynonymous SNV ENSG00000265817.4:ENST00000481490.3:exon1:c.T152G:p.V51G 8q22.1 C3N-00314 . . . . . . . . . 4.20 T T B B N D N T N 0.269 T T T 0.134 0.395 0.548 . T T T T D T 3.377 24.300 0.950 D D 0.086 2.833 0.247 3.423 1.000 0.405 0.522 0.686 0.466 . 5.610 4.410 6.375 1.312 0.756 1.000 1.000 1.000 688 Myb/SANT-like_DNA-binding_domain . . . FSBP 191 0 92 29 0.239669421487603 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112556928 112556928 + G G C Missense_Mutation SNP ENST00000297405.10 exon25 c.C4069G p.P1357A exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon25:c.C4069G:p.P1357A 8q23.3 C3N-00314 . . . . . . . . . 18.20 D D D D D D M D D 0.771 D D D 0.791 0.612 0.820 0.654 T T D D D D 3.750 25.600 0.996 D D 1.008 14.166 0.928 14.997 1.000 0.554 0.574 0.574 0.621 . 4.970 4.970 10.003 1.176 0.676 1.000 0.998 0.997 855 Sushi/SCR/CCP_domain . . . CSMD3 164 0 137 23 0.14375 TRUE TRUE +ENSG00000119121.22 . BCM GRCh38.p13 chr9 74802003 74802003 + G G A Missense_Mutation SNP ENST00000360774.6 exon16 c.C1904T p.T635M exonic ENSG00000119121.22 . nonsynonymous SNV ENSG00000119121.22:ENST00000360774.6:exon16:c.C1904T:p.T635M 9q21.13 C3N-00314 2.473e-05 0 0 0.0002 0 1.5e-05 0 0 rs573826879 4.20 T T B B D D N T N 0.159 T T T 0.122 . 0.043 0.265 T T T T T D 1.584 16.270 0.682 D N -0.517 1.143 -0.226 1.725 0.999 0.554 0.574 0.618 0.564 . 5.280 4.270 6.446 1.176 0.618 1.000 0.735 0.782 762 . . . . TRPM6 373 0 198 48 0.195121951219512 TRUE NA +ENSG00000148335.14 . BCM GRCh38.p13 chr9 129634225 129634225 + A A G Missense_Mutation SNP ENST00000611055.4 exon3 c.A334G p.R112G exonic ENSG00000148335.14 . nonsynonymous SNV ENSG00000148335.14:ENST00000611055.4:exon3:c.A334G:p.R112G 9q34.11 C3N-00314 . . . . . . . . . 4.20 T T B B D D N T N 0.264 T T T 0.089 0.708 0.085 0.591 T T T T D T 2.426 22.200 0.984 D N -0.732 0.760 -0.516 1.177 1.000 0.672 0.702 0.702 0.711 . 4.690 0.715 1.957 1.312 0.756 1.000 1.000 1.000 344 . . . . NTMT1 124 0 67 24 0.263736263736264 TRUE TRUE +ENSG00000136819.15 . BCM GRCh38.p13 chr9 129829524 129829525 + AT AT - Frame_Shift_Del DEL ENST00000372447.7 exon7 c.559_560del p.I187Hfs*43 exonic ENSG00000136819.15 . frameshift deletion ENSG00000136819.15:ENST00000372447.7:exon7:c.559_560del:p.I187Hfs*43 9q34.11 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C9orf78 94 0 63 5 0.0735294117647059 TRUE TRUE +ENSG00000148308.17 . BCM GRCh38.p13 chr9 133052092 133052092 + T T G Missense_Mutation SNP ENST00000372097.9 exon5 c.T801G p.N267K exonic ENSG00000148308.17 . nonsynonymous SNV ENSG00000148308.17:ENST00000372097.9:exon5:c.T801G:p.N267K 9q34.13 C3N-00314 . . . . . . . . . 13.20 D D D D D D M T D 0.611 T T D 0.220 0.498 0.472 0.995 T T T T D D 1.358 14.800 0.994 D D -0.366 1.458 -0.519 1.171 0.990 0.707 0.702 0.725 0.714 . 4.840 -1.100 -0.379 -2.009 -1.875 0.314 0.172 0.785 962 . . . . GTF3C5 68 1 34 8 0.19047619047619 TRUE TRUE +ENSG00000107929.15 . BCM GRCh38.p13 chr10 817810 817810 + A A - Frame_Shift_Del DEL ENST00000316157.8 exon15 c.1610delT p.L537Yfs*8 exonic ENSG00000107929.15 . frameshift deletion ENSG00000107929.15:ENST00000316157.8:exon15:c.1610delT:p.L537Yfs*8 10p15.3 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LARP4B 146 0 86 17 0.16504854368932 TRUE TRUE +ENSG00000204740.11 . BCM GRCh38.p13 chr10 19531312 19531312 + G G T Missense_Mutation SNP ENST00000454679.7 exon32 c.G5439T p.W1813C exonic ENSG00000204740.11 . nonsynonymous SNV ENSG00000204740.11:ENST00000454679.7:exon32:c.G5439T:p.W1813C 10p12.31 C3N-00314 . . . . . . . . . 10.15 D D . . D D . T D 0.885 T T D 0.262 . 0.415 . . . T T D D 4.356 30 0.992 D D 0.420 4.467 0.498 5.138 0.953 0.487 0.574 0.574 0.564 . 5.190 5.190 6.599 1.176 0.676 1.000 1.000 0.987 960 MAM_domain . . ID=COSV65978183;OCCURENCE=1(liver) MALRD1 145 0 100 24 0.193548387096774 TRUE TRUE +ENSG00000107897.19 . BCM GRCh38.p13 chr10 27218042 27218042 + T T G Missense_Mutation SNP ENST00000375888.5 exon7 c.A794C p.E265A exonic ENSG00000107897.19 . nonsynonymous SNV ENSG00000107897.19:ENST00000375888.5:exon7:c.A794C:p.E265A 10p12.1 C3N-00314 . . . . . . . . . 11.20 D D D P N D M D N 0.362 T D D 0.119 0.297 0.821 0.378 T T T T D D 3.618 25.100 0.983 D N -0.027 2.418 -0.119 1.993 0.177 0.706 0.725 0.710 0.714 . 5.210 4.070 3.536 1.138 0.603 1.000 0.107 0.142 744 . . . . ACBD5 322 0 236 26 0.099236641221374 TRUE TRUE +ENSG00000138316.11 . BCM GRCh38.p13 chr10 70760723 70760723 + C C T Missense_Mutation SNP ENST00000373207.2 exon22 c.C3542T p.P1181L exonic ENSG00000138316.11 . nonsynonymous SNV ENSG00000138316.11:ENST00000373207.2:exon22:c.C3542T:p.P1181L 10q22.1 C3N-00314 . . . . . . . . . 2.20 D T B B N N L T N 0.048 T T D 0.123 0.295 0.690 0.171 T T T T T T 0.920 10.650 0.950 N N -0.586 1.013 -0.617 1.020 1.000 0.615 0.590 0.659 0.542 . 4.020 4.020 -0.039 1.026 0.599 0.000 0.002 0.021 373 . . . . ADAMTS14 114 0 78 20 0.204081632653061 TRUE TRUE +ENSG00000137494.14 . BCM GRCh38.p13 chr11 83240881 83240881 + C C G Missense_Mutation SNP ENST00000393392.6 exon9 c.C1058G p.T353S exonic ENSG00000137494.14 . nonsynonymous SNV ENSG00000137494.14:ENST00000393392.6:exon9:c.C1058G:p.T353S 11q14.1 C3N-00314 . . . . . . . . . 8.20 T D D D N D L T N 0.460 T T D 0.281 0.617 0.752 0.154 T T T T D T 2.574 22.600 0.996 D D 0.398 4.330 0.423 4.524 0.067 0.638 0.588 0.618 0.668 . 5.580 4.640 3.839 1.026 0.599 1.000 1.000 1.000 571 . . . . ANKRD42 130 0 82 20 0.196078431372549 TRUE TRUE +ENSG00000109906.14 . BCM GRCh38.p13 chr11 114064337 114064337 + T T G Missense_Mutation SNP ENST00000335953.9 exon2 c.T1037G p.L346W exonic ENSG00000109906.14 . nonsynonymous SNV ENSG00000109906.14:ENST00000335953.9:exon2:c.T1037G:p.L346W 11q23.2 C3N-00314 . . . . . . . . . 8.20 D D D P D D L T N 0.574 T T T 0.165 0.547 0.117 1.674 T T T T D T 3.793 25.800 0.961 D D 0.410 4.409 0.442 4.673 1.000 0.563 0.590 0.563 0.636 . 4.980 4.980 4.005 1.138 0.665 1.000 0.985 0.945 914 . . . . ZBTB16 243 0 286 63 0.180515759312321 TRUE TRUE +ENSG00000134909.18 . BCM GRCh38.p13 chr11 128970424 128970425 + CT CT - Frame_Shift_Del DEL ENST00000310343.13 exon22 c.4746_4747del p.R1582Sfs*26 exonic ENSG00000134909.18 . frameshift deletion ENSG00000134909.18:ENST00000310343.13:exon22:c.4746_4747del:p.R1582Sfs*26 11q24.3 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP32 178 0 84 19 0.184466019417476 TRUE TRUE +ENSG00000129315.11 . BCM GRCh38.p13 chr12 48705883 48705883 + G G T Missense_Mutation SNP ENST00000261900.8 exon3 c.C257A p.A86E exonic ENSG00000129315.11 . nonsynonymous SNV ENSG00000129315.11:ENST00000261900.8:exon3:c.C257A:p.A86E 12q13.12 C3N-00314 . . . . . . . . . 17.20 D D D D D D M T D 0.820 D D D 0.627 0.640 0.913 2.298 T T D D D D 4.171 28.400 0.993 D D 1.059 15.885 0.989 18.198 1.000 0.719 0.723 0.725 0.711 . 5.390 5.390 10.003 1.172 0.672 1.000 1.000 1.000 377 Cyclin-like;Cyclin,_N-terminal . . . CCNT1 144 0 103 12 0.104347826086957 TRUE TRUE +ENSG00000135476.12 . BCM GRCh38.p13 chr12 53282312 53282312 + C C G Missense_Mutation SNP ENST00000257934.9 exon14 c.C2668G p.L890V exonic ENSG00000135476.12 . nonsynonymous SNV ENSG00000135476.12:ENST00000257934.9:exon14:c.C2668G:p.L890V 12q13.13 C3N-00314 . . . . . . . . . 6.20 D D D P N N M T N 0.294 T T T 0.076 0.207 0.523 1.669 T T T T D T 2.649 22.700 0.998 D N 0.598 5.900 0.561 5.765 0.981 0.707 0.725 0.725 0.636 . 4.950 4.950 0.635 1.026 0.599 0.228 1.000 0.998 715 . . . . ESPL1 147 0 97 29 0.23015873015873 TRUE TRUE +ENSG00000139318.8 . BCM GRCh38.p13 chr12 89350590 89350590 + A A G Missense_Mutation SNP ENST00000279488.8 exon2 c.T836C p.I279T exonic ENSG00000139318.8 . nonsynonymous SNV ENSG00000139318.8:ENST00000279488.8:exon2:c.T836C:p.I279T 12q21.33 C3N-00314 . . . . . . . . . 20.20 D D D D D D H D D 0.981 D D D 0.963 0.809 0.994 1.989 D D D D D D 4.958 33 0.998 D D 1.031 14.923 0.949 16.031 1.000 0.628 0.563 0.522 0.658 . 5.560 5.560 9.294 1.312 0.756 1.000 1.000 0.998 897 Tyrosine_specific_protein_phosphatases_domain;Dual_specificity_phosphatase,_catalytic_domain;Dual_specificity_protein_phosphatase_domain . . . DUSP6 107 0 47 14 0.229508196721311 TRUE TRUE +ENSG00000023516.9 . BCM GRCh38.p13 chr13 42301226 42301226 + A A T Missense_Mutation SNP ENST00000025301.4 exon8 c.A2480T p.E827V exonic ENSG00000023516.9 . nonsynonymous SNV ENSG00000023516.9:ENST00000025301.4:exon8:c.A2480T:p.E827V 13q14.11 C3N-00314 . . . . . . . . . 3.20 D D P B N N L T N 0.359 T T T 0.036 0.264 0.134 0.096 T T T T T T 1.823 17.900 0.932 D N -0.606 0.977 -0.624 1.010 0.997 0.707 0.725 0.651 0.714 . 5.820 0.513 3.065 -0.521 -0.050 0.998 0.010 0.006 685 . . . . AKAP11 191 0 107 28 0.207407407407407 TRUE TRUE +ENSG00000123191.16 . BCM GRCh38.p13 chr13 51944194 51944194 + A A C Missense_Mutation SNP ENST00000242839.10 exon14 c.T3158G p.L1053R exonic ENSG00000123191.16 . nonsynonymous SNV ENSG00000123191.16:ENST00000242839.10:exon14:c.T3158G:p.L1053R 13q14.3 C3N-00314 . . . . . . . . . 14.20 T T D D D D N D D 0.626 D D D 0.473 0.597 0.976 0.445 T D D T D D 2.762 22.900 0.974 D N -0.033 2.395 0.153 2.963 0.925 0.638 0.563 0.653 0.655 . 5.430 5.430 5.310 1.312 0.756 1.000 0.997 0.963 459 . . . . ATP7B 166 2 118 19 0.138686131386861 TRUE TRUE +ENSG00000089737.17 . BCM GRCh38.p13 chr14 94062601 94062601 + A A G Missense_Mutation SNP ENST00000621632.5 exon3 c.T739C p.F247L exonic ENSG00000089737.17 . nonsynonymous SNV ENSG00000089737.17:ENST00000621632.5:exon3:c.T739C:p.F247L 14q32.12 C3N-00314 . . . . . . . . . 14.19 D D D D D D M T D 0.893 T T D 0.677 0.763 0.356 0.589 T T D D D . 4.263 29.200 0.999 D D 0.862 10.123 0.822 10.823 1.000 0.757 0.702 0.858 0.723 . 5.400 5.400 8.383 1.312 0.756 1.000 1.000 0.997 410 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . DDX24 93 0 43 17 0.283333333333333 TRUE TRUE +ENSG00000165953.9 . BCM GRCh38.p13 chr14 94489750 94489750 + A A T Missense_Mutation SNP ENST00000341228.2 exon5 c.T923A p.V308E exonic ENSG00000165953.9 . nonsynonymous SNV ENSG00000165953.9:ENST00000341228.2:exon5:c.T923A:p.V308E 14q32.13 C3N-00314 . . . . . . . . . 11.20 D D P P N N M D D 0.601 T D D 0.604 0.791 0.349 0.082 T T D D D T 3.296 24.100 0.978 D N 0.052 2.701 -0.065 2.149 0.999 0.603 0.549 0.608 0.564 . 5.140 3.980 4.133 1.298 0.740 0.340 0.217 0.505 818 Serpin_domain . . . SERPINA12 110 0 79 17 0.177083333333333 TRUE TRUE +ENSG00000184507.16 . BCM GRCh38.p13 chr15 34355691 34355691 + A A - Frame_Shift_Del DEL ENST00000614490.4 exon8 c.1599delA p.R534Efs*11 exonic ENSG00000184507.16 . frameshift deletion ENSG00000184507.16:ENST00000614490.4:exon8:c.1599delA:p.R534Efs*11 15q14 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUTM1 98 0 37 8 0.177777777777778 TRUE TRUE +ENSG00000137776.17 . BCM GRCh38.p13 chr15 58893916 58893916 + G G A Missense_Mutation SNP ENST00000380516.7 exon12 c.C1553T p.T518I exonic ENSG00000137776.17 . nonsynonymous SNV ENSG00000137776.17:ENST00000380516.7:exon12:c.C1553T:p.T518I 15q22.1 C3N-00314 . . . . . . . . . 1.20 T T B B N N N D N 0.076 T T T 0.197 0.221 0.082 0.546 T T T T T T 1.059 12.340 0.976 N N -0.832 0.610 -0.733 0.852 0.343 0.707 0.725 0.725 0.714 . 5.460 1.350 0.642 0.222 0.671 0.235 0.986 0.998 477 . . . . SLTM 111 0 105 18 0.146341463414634 TRUE TRUE +ENSG00000170776.22 . BCM GRCh38.p13 chr15 85533692 85533692 + A A G Missense_Mutation SNP ENST00000394518.7 exon4 c.A290G p.Y97C exonic ENSG00000170776.22 . nonsynonymous SNV ENSG00000170776.22:ENST00000394518.7:exon4:c.A290G:p.Y97C 15q25.3 C3N-00314 1.647e-05 0 0 0 0 0 0 0.0001 rs779331144 6.19 T D D D . N N T D 0.550 T T T 0.132 0.382 0.693 0.298 T T T T T D 2.809 23.000 0.994 D N -0.254 1.729 -0.204 1.776 1.000 0.722 0.699 0.616 0.714 . 5.670 2.100 3.809 1.312 0.754 0.995 0.951 0.983 756 . . . . AKAP13 204 0 113 29 0.204225352112676 TRUE NA +ENSG00000157106.17 . BCM GRCh38.p13 chr16 18837392 18837392 + C C T Missense_Mutation SNP ENST00000446231.7 exon46 c.G7465A p.D2489N exonic ENSG00000157106.17 . nonsynonymous SNV ENSG00000157106.17:ENST00000446231.7:exon46:c.G7465A:p.D2489N 16p12.3 C3N-00314 . . . . . . . . . 7.19 T . B B D D N T N 0.465 T T D 0.169 0.282 0.402 0.385 T T T T D D 2.519 22.500 0.990 D D 0.131 3.009 0.336 3.933 1.000 0.707 0.725 0.725 0.714 . 5.990 5.990 6.118 1.026 0.599 1.000 1.000 0.992 175 . . . . SMG1 115 0 99 25 0.201612903225806 TRUE TRUE +ENSG00000005844.18 . BCM GRCh38.p13 chr16 30518706 30518710 + CCTCC CCTCC - Frame_Shift_Del DEL ENST00000356798.11 exon29 c.3215_3219del p.S1073Gfs*8 exonic ENSG00000005844.18 . frameshift deletion ENSG00000005844.18:ENST00000356798.11:exon29:c.3215_3219del:p.S1073Gfs*8 16p11.2 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGAL 207 0 96 25 0.206611570247934 TRUE TRUE +ENSG00000140798.16 . BCM GRCh38.p13 chr16 48088620 48088620 + G G T Missense_Mutation SNP ENST00000311303.7 exon24 c.C3400A p.P1134T exonic ENSG00000140798.16 . nonsynonymous SNV ENSG00000140798.16:ENST00000311303.7:exon24:c.C3400A:p.P1134T 16q12.1 C3N-00314 . . . . . . . . . 18.20 D D D D D D M D D 0.539 D D D 0.661 0.527 0.787 0.650 T T D D D D 2.633 22.700 0.997 D D 0.182 3.224 0.095 2.713 0.961 0.554 0.574 0.602 0.564 . 5.730 3.780 4.471 0.227 -0.119 1.000 0.935 0.626 550 ABC_transporter-like . . . ABCC12 174 0 116 28 0.194444444444444 TRUE TRUE +ENSG00000133028.12 . BCM GRCh38.p13 chr17 10697341 10697341 + C C A Missense_Mutation SNP ENST00000255390.10 exon1 c.G167T p.G56V exonic ENSG00000133028.12 . nonsynonymous SNV ENSG00000133028.12:ENST00000255390.10:exon1:c.G167T:p.G56V 17p13.1 C3N-00314 . . . . . . . . . 2.20 T T P B N N L D N 0.423 T T D 0.154 0.306 0.556 0.195 T T T T T T 2.229 21.100 0.927 N N -0.547 1.086 -0.647 0.976 1.000 0.442 0.522 0.522 0.562 . 3.870 1.880 1.066 0.031 0.599 0.653 0.009 0.026 793 . . . . SCO1 187 1 144 34 0.191011235955056 TRUE TRUE +ENSG00000109101.7 . BCM GRCh38.p13 chr17 28535144 28535144 + C C G Missense_Mutation SNP ENST00000226247.2 exon7 c.C1573G p.L525V exonic ENSG00000109101.7 . nonsynonymous SNV ENSG00000109101.7:ENST00000226247.2:exon7:c.C1573G:p.L525V 17q11.2 C3N-00314 . . . . . . . . . 9.20 D T P B D D L D N 0.420 D D D 0.269 0.282 0.543 0.078 T T T T D T 2.139 20.400 0.997 D N 0.147 3.076 0.219 3.278 0.030 0.403 0.547 0.578 0.613 . 4.630 4.630 1.383 1.026 0.599 0.982 0.999 0.975 211 . . . . FOXN1 47 1 33 10 0.232558139534884 TRUE TRUE +ENSG00000166960.16 . BCM GRCh38.p13 chr18 33223155 33223155 + T T G Missense_Mutation SNP ENST00000383096.7 exon18 c.A1883C p.K628T exonic ENSG00000166960.16 . nonsynonymous SNV ENSG00000166960.16:ENST00000383096.7:exon18:c.A1883C:p.K628T 18q12.1 C3N-00314 . . . . . . . . . 6.19 D D D P . D L T N 0.239 T T T 0.103 0.277 0.157 0.131 T T T T D T 1.894 18.440 0.403 D N -0.130 2.082 -0.200 1.785 0.000 0.487 0.574 0.574 0.613 . 4.680 3.510 1.195 0.202 -0.128 0.706 0.551 0.023 699 . . . . CCDC178 105 0 91 17 0.157407407407407 TRUE TRUE +ENSG00000064687.13 . BCM GRCh38.p13 chr19 1054327 1054327 + G G A Missense_Mutation SNP ENST00000263094.11 exon27 c.G3712A p.G1238S exonic ENSG00000064687.13 . nonsynonymous SNV ENSG00000064687.13:ENST00000263094.11:exon27:c.G3712A:p.G1238S 19p13.3 C3N-00314 5.562e-05 0.0001 8.98e-05 0.0001 0 5.057e-05 0 0 rs200733032 11.19 D T D P . D M D D 0.335 D D D 0.500 0.536 0.909 0.168 T D T T T T 2.661 22.800 0.995 D N 0.210 3.347 0.174 3.059 0.965 0.701 0.634 0.717 0.605 . 3.640 3.640 6.375 0.986 0.526 1.000 0.116 0.073 988 . . . . ABCA7 58 0 34 9 0.209302325581395 TRUE NA +ENSG00000064687.13 . BCM GRCh38.p13 chr19 1056407 1056407 + C C A Missense_Mutation SNP ENST00000263094.11 exon33 c.C4494A p.H1498Q exonic ENSG00000064687.13 . nonsynonymous SNV ENSG00000064687.13:ENST00000263094.11:exon33:c.C4494A:p.H1498Q 19p13.3 C3N-00314 . . . . . . . . . 2.19 T T B B . N L D N 0.049 T T D 0.151 0.709 0.777 0.106 T T T T T T 0.620 7.703 0.909 N N -0.720 0.780 -0.688 0.917 0.028 0.706 0.710 0.723 0.568 . 3.760 2.670 -0.310 0.871 0.511 0.000 0.055 0.334 988 . . . . ABCA7 173 0 94 21 0.182608695652174 TRUE TRUE +ENSG00000079385.22 . BCM GRCh38.p13 chr19 42519181 42519181 + G G T Missense_Mutation SNP ENST00000161559.11 exon5 c.C1013A p.T338K exonic ENSG00000079385.22 . nonsynonymous SNV ENSG00000079385.22:ENST00000161559.11:exon5:c.C1013A:p.T338K 19q13.2 C3N-00314 . . . . . . . . . 0.19 T T P B . N L T N 0.309 T T T 0.075 0.519 0.581 0.383 T T T T T T -0.186 0.548 0.565 N N -0.918 0.497 -0.976 0.519 0.022 0.638 0.634 0.659 0.668 . 5.020 1.200 -0.409 -0.228 0.594 0.000 0.007 0.021 439 Immunoglobulin;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . CEACAM1 262 0 156 32 0.170212765957447 TRUE TRUE +ENSG00000105321.14 . BCM GRCh38.p13 chr19 47260621 47260621 + G G - Frame_Shift_Del DEL ENST00000221922.11 exon5 c.244delG p.T83Pfs*85 exonic ENSG00000105321.14 . frameshift deletion ENSG00000105321.14:ENST00000221922.11:exon5:c.244delG:p.T83Pfs*85 19q13.32 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC9 24 0 24 6 0.2 TRUE TRUE +ENSG00000142405.22 . BCM GRCh38.p13 chr19 53810168 53810168 + C C A Missense_Mutation SNP ENST00000324134.11 exon3 c.G1491T p.M497I exonic ENSG00000142405.22 . nonsynonymous SNV ENSG00000142405.22:ENST00000324134.11:exon3:c.G1491T:p.M497I 19q13.42 C3N-00314 . . . . . . . . . 2.20 D T B B N N L D N 0.192 T T T 0.186 0.420 0.844 0.058 T T T T T T 1.280 14.240 0.986 N N -0.468 1.240 -0.403 1.367 0.946 0.624 0.574 0.668 0.662 . 4.430 3.360 0.187 0.979 0.549 0.002 1.000 0.991 994 NACHT_nucleoside_triphosphatase . . . NLRP12 675 0 460 115 0.2 TRUE TRUE +ENSG00000239961.3 . BCM GRCh38.p13 chr19 54338655 54338655 + C C G Missense_Mutation SNP ENST00000291759.5 exon3 c.G96C p.W32C exonic ENSG00000239961.3 . nonsynonymous SNV ENSG00000239961.3:ENST00000291759.5:exon3:c.G96C:p.W32C 19q13.42 C3N-00314 . . . . . . . . . 5.15 D D . . N D . T D 0.469 T T T 0.123 0.548 0.076 0.539 T . T T D . 2.627 22.700 0.973 N N -0.026 2.421 -0.279 1.608 0.000 0.554 0.588 0.547 0.613 . 2.500 1.450 0.343 0.056 0.596 0.013 0.011 0.037 994 . . . . LILRA4 90 0 51 11 0.17741935483871 TRUE TRUE +ENSG00000089177.18 . BCM GRCh38.p13 chr20 16379122 16379122 + C C A Missense_Mutation SNP ENST00000354981.6 exon19 c.G2880T p.Q960H exonic ENSG00000089177.18 . nonsynonymous SNV ENSG00000089177.18:ENST00000354981.6:exon19:c.G2880T:p.Q960H 20p12.1 C3N-00314 . . . . . . . . . 3.20 D T P P N N M T N 0.108 T T T 0.114 0.221 0.048 0.450 T T T T D T 0.731 8.736 0.922 N N -1.140 0.273 -1.383 0.160 0.856 0.657 0.670 0.673 0.655 . 5.620 -9.540 -0.589 -1.244 -0.985 0.203 0.024 0.091 761 . . . . KIF16B 125 0 84 5 0.0561797752808989 TRUE TRUE +ENSG00000196700.9 . BCM GRCh38.p13 chr20 63964325 63964325 + A A G Missense_Mutation SNP ENST00000369888.6 exon7 c.T1328C p.L443P exonic ENSG00000196700.9 . nonsynonymous SNV ENSG00000196700.9:ENST00000369888.6:exon7:c.T1328C:p.L443P 20q13.33 C3N-00314 . . . . . . . . . 13.20 D D D D D D M T N 0.711 T T D 0.172 0.209 0.082 . D T T T D D 4.266 29.300 0.999 D D 0.570 5.636 0.523 5.376 1.000 0.672 0.702 0.702 0.636 . 4.550 4.550 8.160 1.307 0.686 1.000 1.000 0.986 . . . . . ZNF512B 186 0 117 22 0.158273381294964 TRUE TRUE +ENSG00000160299.17 . BCM GRCh38.p13 chr21 46430633 46430633 + G G T Missense_Mutation SNP ENST00000359568.10 exon37 c.G8040T p.E2680D exonic ENSG00000160299.17 . nonsynonymous SNV ENSG00000160299.17:ENST00000359568.10:exon37:c.G8040T:p.E2680D 21q22.3 C3N-00314 . . . . . . . . . 7.20 D D D D N N M T N 0.337 T T T 0.106 0.059 0.532 0.271 T T T T D T 2.008 19.310 0.996 D N 0.005 2.528 -0.107 2.027 0.305 0.707 0.725 0.725 0.636 . 4.870 2.060 -0.246 0.206 -0.104 0.874 0.998 0.213 976 . . . . PCNT 226 0 150 43 0.22279792746114 TRUE TRUE +ENSG00000128342.5 . BCM GRCh38.p13 chr22 30244038 30244038 + G G C Missense_Mutation SNP ENST00000249075.4 exon3 c.C222G p.F74L exonic ENSG00000128342.5 . nonsynonymous SNV ENSG00000128342.5:ENST00000249075.4:exon3:c.C222G:p.F74L 22q12.2 C3N-00314 . . . . . . . . . 12.19 D D D D D D . T D 0.625 T T T 0.677 0.721 0.829 1.011 T D D D D T 3.402 24.400 0.998 D N 0.214 3.364 0.173 3.054 1.000 0.615 0.610 0.659 0.616 . 4.590 2.480 1.878 -0.100 -0.106 1.000 0.997 0.990 350 . . . . LIF 137 0 62 18 0.225 TRUE TRUE +ENSG00000100065.15 . BCM GRCh38.p13 chr22 37492793 37492793 + C C T Missense_Mutation SNP ENST00000251973.10 exon17 c.G2486A p.R829Q exonic ENSG00000100065.15 . nonsynonymous SNV ENSG00000100065.15:ENST00000251973.10:exon17:c.G2486A:p.R829Q 22q13.1 C3N-00314 8.867e-06 0 0 0 0 0 0 6.297e-05 rs769750011 3.20 D D P B N D L T N 0.142 T T T 0.035 0.194 0.457 0.369 T T T T T T 1.040 12.120 0.975 N N -0.412 1.358 -0.493 1.213 0.868 0.646 0.547 0.645 0.636 . 4.630 2.530 -0.075 0.936 0.587 0.001 0.588 0.083 906 . . . . CARD10 139 0 62 18 0.225 TRUE NA +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53224770 53224770 + T T - Frame_Shift_Del DEL ENST00000375401.8 exon1 c.120delA p.K40Nfs*33 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon1:c.120delA:p.K40Nfs*33 Xp11.22 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 94 0 42 38 0.475 TRUE TRUE +ENSG00000102313.9 . BCM GRCh38.p13 chrX 54751379 54751379 + C C - Frame_Shift_Del DEL ENST00000218436.7 exon12 c.3354delG p.L1119Cfs*3 exonic ENSG00000102313.9 . frameshift deletion ENSG00000102313.9:ENST00000218436.7:exon12:c.3354delG:p.L1119Cfs*3 Xp11.22 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITIH6 46 0 20 8 0.285714285714286 TRUE TRUE +ENSG00000010244.18 . BCM GRCh38.p13 chr17 32365488 32365488 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000010244.18 ENST00000321233.10:exon7:c.780+1G>T . . 17q11.2 C3N-00314 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.565 36 0.995 D . 1.243 28.341 1.103 27.359 1.000 0.295 0.272 0.343 0.221 0.991 5.650 5.650 10.003 1.172 0.614 1.000 1.000 0.978 919 . . . ID=COSV58301642;OCCURENCE=1(liver) ZNF207 267 0 199 47 0.191056910569106 TRUE TRUE +ENSG00000156875.14 . BCM GRCh38.p13 chr1 100069646 100069646 + G G A Silent SNP ENST00000370152.8 exon8 c.G852A p.A284A exonic ENSG00000156875.14;ENSG00000283761.1 . synonymous SNV ENSG00000156875.14:ENST00000370152.8:exon8:c.G852A:p.A284A,ENSG00000283761.1:ENST00000639037.1:exon13:c.G1521A:p.A507A 1p21.2 C3N-00314 4.119e-05 0.0002 8.637e-05 0 0 2.997e-05 0 0 rs745429649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MFSD14A 166 0 100 27 0.21259842519685 TRUE NA +ENSG00000143748.18 . BCM GRCh38.p13 chr1 224317744 224317744 + T T C Silent SNP ENST00000281701.11 exon4 c.A234G p.L78L exonic ENSG00000143748.18 . synonymous SNV ENSG00000143748.18:ENST00000281701.11:exon4:c.A234G:p.L78L 1q42.11 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NVL 139 0 112 25 0.182481751824818 TRUE TRUE +ENSG00000197454.2 . BCM GRCh38.p13 chr1 248021968 248021968 + G G T Silent SNP ENST00000355281.2 exon2 c.G21T p.T7T exonic ENSG00000197454.2 . synonymous SNV ENSG00000197454.2:ENST00000355281.2:exon2:c.G21T:p.T7T 1q44 C3N-00314 . . . . . . . . rs559064555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR2L5 94 0 62 10 0.138888888888889 NA TRUE +ENSG00000158220.14 . BCM GRCh38.p13 chr3 138435107 138435107 + C C T Silent SNP ENST00000389567.9 exon1 c.C309T p.G103G exonic ENSG00000158220.14 . synonymous SNV ENSG00000158220.14:ENST00000389567.9:exon1:c.C309T:p.G103G 3q22.3 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ESYT3 67 0 48 9 0.157894736842105 TRUE TRUE +ENSG00000152969.20 . BCM GRCh38.p13 chr4 6105866 6105866 + A A G Silent SNP ENST00000282924.9 exon3 c.T231C p.H77H exonic ENSG00000152969.20 . synonymous SNV ENSG00000152969.20:ENST00000282924.9:exon3:c.T231C:p.H77H 4p16.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51533984;OCCURENCE=2(large_intestine) JAKMIP1 149 0 100 29 0.224806201550388 TRUE TRUE +ENSG00000124570.21 . BCM GRCh38.p13 chr6 2948307 2948307 + G G C Silent SNP ENST00000380539.7 exon7 c.C1122G p.S374S exonic ENSG00000124570.21 . synonymous SNV ENSG00000124570.21:ENST00000380539.7:exon7:c.C1122G:p.S374S 6p25.2 C3N-00314 8.259e-06 0 0 0 0 1.503e-05 0 0 rs768602128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINB6 188 0 120 20 0.142857142857143 TRUE NA +ENSG00000124491.16 . BCM GRCh38.p13 chr6 6224792 6224792 + G G T Silent SNP ENST00000264870.8 exon7 c.C867A p.P289P exonic ENSG00000124491.16 . synonymous SNV ENSG00000124491.16:ENST00000264870.8:exon7:c.C867A:p.P289P 6p25.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F13A1 162 0 124 43 0.25748502994012 TRUE TRUE +ENSG00000178233.18 . BCM GRCh38.p13 chr6 44275708 44275708 + C C A Silent SNP ENST00000451188.7 exon3 c.C882A p.P294P exonic ENSG00000178233.18 . synonymous SNV ENSG00000178233.18:ENST00000451188.7:exon3:c.C882A:p.P294P 6p21.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM151B 136 0 95 27 0.221311475409836 TRUE TRUE +ENSG00000127946.17 . BCM GRCh38.p13 chr7 75592390 75592390 + G G C Silent SNP ENST00000336926.11 exon3 c.C309G p.L103L exonic ENSG00000127946.17 . synonymous SNV ENSG00000127946.17:ENST00000336926.11:exon3:c.C309G:p.L103L 7q11.23 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIP1 55 0 32 13 0.288888888888889 TRUE TRUE +ENSG00000087087.20 . BCM GRCh38.p13 chr7 100884943 100884943 + G G C Silent SNP ENST00000611405.5 exon9 c.G1062C p.R354R exonic ENSG00000087087.20 . synonymous SNV ENSG00000087087.20:ENST00000611405.5:exon9:c.G1062C:p.R354R 7q22.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRRT 197 0 173 41 0.191588785046729 TRUE TRUE +ENSG00000221866.9 . BCM GRCh38.p13 chr7 132164169 132164169 + G G A Silent SNP ENST00000359827.7 exon24 c.C4473T p.I1491I exonic ENSG00000221866.9 . synonymous SNV ENSG00000221866.9:ENST00000359827.7:exon24:c.C4473T:p.I1491I 7q32.3 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLXNA4 158 0 99 25 0.201612903225806 TRUE TRUE +ENSG00000055609.18 . BCM GRCh38.p13 chr7 152176474 152176474 + G G A Silent SNP ENST00000262189.11 exon38 c.C8979T p.L2993L exonic ENSG00000055609.18 . synonymous SNV ENSG00000055609.18:ENST00000262189.11:exon38:c.C8979T:p.L2993L 7q36.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2C 263 0 199 27 0.119469026548673 TRUE TRUE +ENSG00000147443.13 . BCM GRCh38.p13 chr8 21909434 21909434 + C C A Silent SNP ENST00000276420.9 exon5 c.G1116T p.A372A exonic ENSG00000147443.13 . synonymous SNV ENSG00000147443.13:ENST00000276420.9:exon5:c.G1116T:p.A372A 8p21.3 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOK2 108 0 53 18 0.253521126760563 TRUE TRUE +ENSG00000147853.17 . BCM GRCh38.p13 chr9 4718525 4718525 + G G A Silent SNP ENST00000381809.8 exon4 c.C457T p.L153L exonic ENSG00000147853.17 . synonymous SNV ENSG00000147853.17:ENST00000381809.8:exon4:c.C457T:p.L153L 9p24.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AK3 179 0 96 24 0.2 TRUE TRUE +ENSG00000148335.14 . BCM GRCh38.p13 chr9 129634215 129634215 + C C A Silent SNP ENST00000611055.4 exon3 c.C324A p.G108G exonic ENSG00000148335.14 . synonymous SNV ENSG00000148335.14:ENST00000611055.4:exon3:c.C324A:p.G108G 9q34.11 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NTMT1 128 0 73 29 0.284313725490196 TRUE TRUE +ENSG00000148483.9 . BCM GRCh38.p13 chr10 17796396 17796396 + A A T Silent SNP ENST00000377495.2 exon4 c.A948T p.T316T exonic ENSG00000148483.9 . synonymous SNV ENSG00000148483.9:ENST00000377495.2:exon4:c.A948T:p.T316T 10p12.33 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM236 672 3 433 100 0.187617260787992 TRUE TRUE +ENSG00000070748.19 . BCM GRCh38.p13 chr10 49664779 49664779 + G G T Silent SNP ENST00000337653.7 exon15 c.G1980T p.V660V exonic ENSG00000070748.19 . synonymous SNV ENSG00000070748.19:ENST00000337653.7:exon15:c.G1980T:p.V660V 10q11.23 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHAT 318 0 205 44 0.176706827309237 TRUE TRUE +ENSG00000014216.16 . BCM GRCh38.p13 chr11 65183175 65183175 + A A T Silent SNP ENST00000279247.11 exon3 c.A315T p.T105T exonic ENSG00000014216.16 . synonymous SNV ENSG00000014216.16:ENST00000279247.11:exon3:c.A315T:p.T105T 11q13.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAPN1 137 0 69 9 0.115384615384615 TRUE TRUE +ENSG00000185896.11 . BCM GRCh38.p13 chr13 113319509 113319509 + G G A Silent SNP ENST00000332556.5 exon5 c.G603A p.A201A exonic ENSG00000185896.11 . synonymous SNV ENSG00000185896.11:ENST00000332556.5:exon5:c.G603A:p.A201A 13q34 C3N-00314 8.365e-06 0 0 0 0 1.511e-05 0 0 rs374933256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100208532;OCCURENCE=1(stomach),1(endometrium) LAMP1 107 0 53 14 0.208955223880597 TRUE NA +ENSG00000172382.10 . BCM GRCh38.p13 chr16 2714129 2714129 + G G A Silent SNP ENST00000302641.8 exon4 c.C444T p.P148P exonic ENSG00000172382.10 . synonymous SNV ENSG00000172382.10:ENST00000302641.8:exon4:c.C444T:p.P148P 16p13.3 C3N-00314 . . . . . . . . rs915952005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS27 120 1 67 21 0.238636363636364 TRUE NA +ENSG00000198211.8 . BCM GRCh38.p13 chr16 89934898 89934898 + G G A Silent SNP ENST00000315491.12 exon4 c.G447A p.T149T exonic ENSG00000198211.8;ENSG00000258947.7 . synonymous SNV ENSG00000258947.7:ENST00000315491.12:exon4:c.G447A:p.T149T,ENSG00000198211.8:ENST00000556922.1:exon5:c.G1488A:p.T496T 16q24.3 C3N-00314 0.0003 0 0.0028 0.0007 0 0 0 0 rs371662941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092143.1 463 0 350 60 0.146341463414634 TRUE NA +ENSG00000141337.12 . BCM GRCh38.p13 chr17 68347129 68347129 + A A G Silent SNP ENST00000448504.6 exon4 c.A411G p.K137K exonic ENSG00000141337.12 . synonymous SNV ENSG00000141337.12:ENST00000448504.6:exon4:c.A411G:p.K137K 17q24.2 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARSG 221 0 122 46 0.273809523809524 TRUE TRUE +ENSG00000130816.16 . BCM GRCh38.p13 chr19 10194821 10194821 + G G T Silent SNP ENST00000340748.8 exon1 c.C79A p.R27R exonic ENSG00000130816.16 . synonymous SNV ENSG00000130816.16:ENST00000340748.8:exon1:c.C79A:p.R27R 19p13.2 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNMT1 151 0 111 32 0.223776223776224 TRUE TRUE +ENSG00000105675.9 . BCM GRCh38.p13 chr19 35550624 35550624 + G G T Silent SNP ENST00000262623.4 exon22 c.C3099A p.L1033L exonic ENSG00000105675.9 . synonymous SNV ENSG00000105675.9:ENST00000262623.4:exon22:c.C3099A:p.L1033L 19q13.12 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP4A 207 0 141 30 0.175438596491228 TRUE TRUE +ENSG00000101040.19 . BCM GRCh38.p13 chr20 47227255 47227255 + C C T Silent SNP ENST00000311275.11 exon18 c.G2904A p.E968E exonic ENSG00000101040.19 . synonymous SNV ENSG00000101040.19:ENST00000311275.11:exon18:c.G2904A:p.E968E 20q13.12 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZMYND8 172 0 104 17 0.140495867768595 TRUE TRUE +ENSG00000175718.10 . BCM GRCh38.p13 chrX 115191994 115191994 + G G C Silent SNP ENST00000424776.5 exon1 c.G2553C p.R851R exonic ENSG00000175718.10 . synonymous SNV ENSG00000175718.10:ENST00000424776.5:exon1:c.G2553C:p.R851R Xq23 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBMXL3 101 0 27 26 0.490566037735849 TRUE TRUE +ENSG00000067606.17 . BCM GRCh38.p13 chr1 2185418 2185418 + G G A 3'Flank SNP NA NA NA NA downstream ENSG00000067606.17 dist=28 . . 1p36.33 C3N-00314 . . . . . . . . rs188463485 1.11 . D . . . N . . . 0.153 T T T 0.105 . 0.043 . . . T T T T 1.610 16.440 0.775 N N -1.078 0.326 -1.066 0.412 1.000 0.706 0.634 0.702 0.613 . 3.140 -1.690 0.295 0.146 -0.117 0.413 0.791 0.976 927 . . . . PRKCZ 431 0 284 21 0.0688524590163934 TRUE NA +ENSG00000245928.2 . BCM GRCh38.p13 chr4 75981475 75981475 + A A T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000245928.2 . . . 4q21.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC112719.2 239 0 155 44 0.221105527638191 TRUE NA +ENSG00000197536.11 . BCM GRCh38.p13 chr5 132449668 132449672 + TATTG TATTG - RNA DEL NA NA NA NA ncRNA_exonic ENSG00000197536.11 . . . 5q31.1 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRF1-AS1 205 0 118 27 0.186206896551724 TRUE TRUE +ENSG00000123124.14 . BCM GRCh38.p13 chr8 86468706 86468706 + C C - 3'Flank SNP NA NA NA NA downstream ENSG00000123124.14 dist=203 . . 8q21.3 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WWP1 155 0 98 10 0.0925925925925926 TRUE TRUE +ENSG00000185869.14 . BCM GRCh38.p13 chr19 36915865 36915865 + T T G Intron SNP NA NA NA NA intronic ENSG00000185869.14 . . . 19q13.12 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF829 162 1 101 24 0.192 TRUE TRUE +ENSG00000167555.14 . BCM GRCh38.p13 chr19 52414288 52414288 + C C G Intron SNP NA NA NA NA intronic ENSG00000167555.14 . . . 19q13.41 C3N-00314 . . . . . . . . rs761426106 1.14 D T . . . N . T N 0.159 T T T 0.033 0.378 0.092 . . . T T T T 0.468 6.164 0.924 N N -0.723 0.774 -0.974 0.522 0.000 0.554 0.588 0.670 0.621 . 0.149 0.149 0.625 -0.715 -0.831 0.005 0.002 0.003 988 . . . . ZNF528 206 0 144 31 0.177142857142857 TRUE NA +ENSG00000026559.14 . BCM GRCh38.p13 chr20 51004398 51004399 + GC GC AG Unknown MNP ENST00000371571.5 exon3 c.1182_1183delinsCT p.L395F exonic ENSG00000026559.14 . nonframeshift substitution ENSG00000026559.14:ENST00000371571.5:exon3:c.1182_1183delinsCT:p.L395F 20q13.13 C3N-00314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNG1 183 0 99 27 0.214285714285714 TRUE TRUE +ENSG00000130762.15 . BCM GRCh38.p13 chr1 3463548 3463548 + G G A Missense_Mutation SNP ENST00000378378.9 exon2 c.G464A p.R155Q exonic ENSG00000130762.15 . nonsynonymous SNV ENSG00000130762.15:ENST00000378378.9:exon2:c.G464A:p.R155Q 1p36.32 C3N-00315 . . . . . . . . rs1031473979 9.20 D D P B N D M T N 0.396 T T D 0.341 . 0.626 0.405 T T T T D D 3.070 23.600 0.997 D D 0.386 4.258 0.347 4.005 1.000 0.696 0.574 0.723 0.613 . 4.030 4.030 6.289 1.172 0.614 1.000 0.924 0.352 976 . . . . ARHGEF16 22 0 6 6 0.5 TRUE NA +ENSG00000127481.15 . BCM GRCh38.p13 chr1 19173276 19173276 + C C G Missense_Mutation SNP ENST00000375254.8 exon24 c.G3196C p.E1066Q exonic ENSG00000127481.15 . nonsynonymous SNV ENSG00000127481.15:ENST00000375254.8:exon24:c.G3196C:p.E1066Q 1p36.13 C3N-00315 . . . . . . . . . 6.19 T . B B D D N T N 0.294 T T T 0.115 0.212 0.043 0.145 T T T T D D 1.875 18.300 0.193 D D -0.021 2.438 0.225 3.309 1.000 0.707 0.725 0.725 0.714 . 5.950 5.950 7.568 1.026 0.599 1.000 0.994 0.992 835 . . . . UBR4 121 0 119 7 0.0555555555555556 TRUE NA +ENSG00000157978.12 . BCM GRCh38.p13 chr1 25566861 25566861 + C C T Missense_Mutation SNP ENST00000374338.5 exon9 c.C796T p.R266W exonic ENSG00000157978.12 . nonsynonymous SNV ENSG00000157978.12:ENST00000374338.5:exon9:c.C796T:p.R266W 1p36.11 C3N-00315 1.168e-05 0 0 0 0 0 0 8.044e-05 rs768454420 17.20 D D D D D D M T D 0.754 D T D 0.551 0.447 0.860 0.793 T D D D D D 4.399 31 0.999 D D 0.567 5.599 0.523 5.379 1.000 0.707 0.702 0.780 0.714 . 5.540 4.610 2.673 1.026 0.599 0.984 1.000 0.999 590 . . . . LDLRAP1 283 0 188 72 0.276923076923077 TRUE NA +ENSG00000116329.11 . BCM GRCh38.p13 chr1 28859280 28859280 + T T C Missense_Mutation SNP ENST00000234961.7 exon2 c.T554C p.V185A exonic ENSG00000116329.11 . nonsynonymous SNV ENSG00000116329.11:ENST00000234961.7:exon2:c.T554C:p.V185A 1p35.3 C3N-00315 . . . . . . . . . 9.20 D D B B N D L T D 0.287 T T D 0.449 0.618 0.914 0.910 T D T T D T 3.175 23.800 0.998 D D 0.160 3.133 0.235 3.359 1.000 0.615 0.574 0.659 0.613 . 4.570 4.570 4.253 1.138 0.665 1.000 1.000 0.971 400 GPCR,_rhodopsin-like,_7TM . . . OPRD1 84 0 67 5 0.0694444444444444 TRUE TRUE +ENSG00000085999.13 . BCM GRCh38.p13 chr1 46272802 46272802 + C C T Missense_Mutation SNP ENST00000371975.9 exon12 c.C1375T p.H459Y exonic ENSG00000085999.13 . nonsynonymous SNV ENSG00000085999.13:ENST00000371975.9:exon12:c.C1375T:p.H459Y 1p34.1 C3N-00315 8.237e-06 0 0 0 0 0 0 6.057e-05 rs774775735 18.20 D D D D D D H T D 0.958 D D D 0.948 . 0.984 0.632 T D D D D D 4.432 31 0.998 D D 0.940 12.135 0.861 12.196 1.000 0.672 0.698 0.702 0.636 . 5.010 5.010 7.444 1.026 0.599 1.000 1.000 0.990 107 SNF2-related,_N-terminal_domain . . ID=COSV64336258;OCCURENCE=1(large_intestine),1(stomach) RAD54L 393 0 356 24 0.0631578947368421 TRUE TRUE +ENSG00000271601.4 . BCM GRCh38.p13 chr1 145957678 145957678 + C C T Missense_Mutation SNP ENST00000604000.4 exon1 c.G250A p.V84M exonic ENSG00000271601.4 . nonsynonymous SNV ENSG00000271601.4:ENST00000604000.4:exon1:c.G250A:p.V84M 1q21.1 C3N-00315 . . . . . . . . . 3.5 . D . . . . . T . 0.477 . . . . . . . . T . . . D 3.562 24.900 . . D . . . . . . . . . . . . 4.836 0.962 0.469 1.000 0.993 0.807 958 . . . ID=COSV60160788;OCCURENCE=1(NS) LIX1L 89 0 79 24 0.233009708737864 TRUE TRUE +ENSG00000197915.7 . BCM GRCh38.p13 chr1 152213126 152213126 + T T G Missense_Mutation SNP ENST00000368801.4 exon3 c.A8503C p.T2835P exonic ENSG00000197915.7 . nonsynonymous SNV ENSG00000197915.7:ENST00000368801.4:exon3:c.A8503C:p.T2835P 1q21.3 C3N-00315 . . . . . . . . . 4.19 D D D P . N L T N 0.175 T T T 0.127 0.131 0.559 . T T T T T T 2.804 23.000 0.715 D N -0.129 2.084 -0.197 1.792 0.000 0.487 0.547 0.574 0.564 . 4.860 3.740 2.287 0.130 -0.126 0.852 0.002 0.002 567 . . . . HRNR 238 0 212 15 0.066079295154185 TRUE TRUE +ENSG00000143194.13 . BCM GRCh38.p13 chr1 166989369 166989369 + C C G Missense_Mutation SNP ENST00000367872.9 exon1 c.C17G p.A6G exonic ENSG00000143194.13 . nonsynonymous SNV ENSG00000143194.13:ENST00000367872.9:exon1:c.C17G:p.A6G 1q24.1 C3N-00315 . . . . . . . . . 1.20 T T B B N N L T N 0.092 T T T 0.051 0.638 0.410 0.183 T T T T T T 1.744 17.330 0.993 D N -0.279 1.665 -0.084 2.093 0.036 0.554 0.588 0.608 0.564 . 5.250 4.330 1.496 1.026 0.599 0.994 0.996 0.941 693 High_mobility_group_box_domain . . . MAEL 98 0 76 5 0.0617283950617284 TRUE TRUE +ENSG00000186487.20 . BCM GRCh38.p13 chr2 1922367 1922367 + G G A Nonsense_Mutation SNP ENST00000647738.2 exon10 c.C1402T p.Q468X exonic ENSG00000186487.20 . stopgain ENSG00000186487.20:ENST00000647738.2:exon10:c.C1402T:p.Q468X 2p25.3 C3N-00315 . . . . . . . . . 4.6 . . . . N A . . . 0.848 . . . . . . . . . D D . . 6.981 37 0.998 D N 0.970 12.993 0.805 10.279 0.999 0.487 0.574 0.547 0.564 . 5.910 5.910 7.297 1.176 0.676 1.000 0.971 0.503 697 . . . . MYT1L 229 0 175 31 0.150485436893204 TRUE TRUE +ENSG00000115750.17 . BCM GRCh38.p13 chr2 9919641 9919641 + G G T Missense_Mutation SNP ENST00000263663.10 exon14 c.G1386T p.E462D exonic ENSG00000115750.17 . nonsynonymous SNV ENSG00000115750.17:ENST00000263663.10:exon14:c.G1386T:p.E462D 2p25.1 C3N-00315 0.5827 0.1999 0.4746 0.4942 0.6491 0.6795 0.6322 0.5246 rs1820965 0.19 T T B B N P N T N 0.011 T T . 0.022 . . 0.099 T T T T T T 0.325 4.583 0.217 N N -1.094 0.312 -0.919 0.594 0.049 0.706 0.588 0.710 0.714 . 5.320 1.660 0.482 0.206 -0.111 0.978 0.275 0.403 952 . 0.000 Skin_Not_Sun_Exposed_Suprapubic;Colon_Transverse;Spleen;Brain_Cerebellar_Hemisphere;Colon_Sigmoid;Breast_Mammary_Tissue;Esophagus_Gastroesophageal_Junction;Muscle_Skeletal;Pituitary;Thyroid;Esophagus_Muscularis;Brain_Cerebellum;Adipose_Subcutaneous;Nerve_Tibial;Small_Intestine_Terminal_Ileum;Whole_Blood;Lung;Skin_Sun_Exposed_Lower_leg ID=COSV55154091;OCCURENCE=1(breast),1(oesophagus),2(large_intestine),1(stomach),2(haematopoietic_and_lymphoid_tissue),3(lung) TAF1B 195 0 173 10 0.0546448087431694 TRUE TRUE +ENSG00000116005.12 . BCM GRCh38.p13 chr2 70277306 70277306 + G G A Missense_Mutation SNP ENST00000433351.7 exon6 c.G1432A p.A478T exonic ENSG00000116005.12 . nonsynonymous SNV ENSG00000116005.12:ENST00000433351.7:exon6:c.G1432A:p.A478T 2p13.3 C3N-00315 . . . . . . . . . 14.20 D D D D D D M T D 0.897 T T D 0.580 0.909 0.632 0.331 T T D D D T 3.553 24.900 0.999 D D 0.733 7.606 0.586 6.058 1.000 0.707 0.709 0.725 0.714 . 5.380 5.380 9.974 1.172 0.672 1.000 0.004 0.099 472 Prenylcysteine_lyase . . . PCYOX1 137 0 101 20 0.165289256198347 TRUE TRUE +ENSG00000116031.9 . BCM GRCh38.p13 chr2 70833691 70833691 + G G A Missense_Mutation SNP ENST00000410009.5 exon3 c.C520T p.L174F exonic ENSG00000116031.9 . nonsynonymous SNV ENSG00000116031.9:ENST00000410009.5:exon3:c.C520T:p.L174F 2p13.3 C3N-00315 . . . . . . . . . 9.20 D D D D N D M T D 0.375 T T T 0.115 0.301 0.464 0.604 T T T T D T 3.144 23.700 0.998 D N 0.369 4.156 0.248 3.430 0.895 0.497 0.590 0.547 0.542 . 4.120 4.120 1.907 0.983 0.676 0.952 0.102 0.041 877 . . . . CD207 77 1 73 12 0.141176470588235 TRUE TRUE +ENSG00000132300.19 . BCM GRCh38.p13 chr2 86137050 86137050 + T T C Missense_Mutation SNP ENST00000254630.12 exon23 c.T1889C p.V630A exonic ENSG00000132300.19 . nonsynonymous SNV ENSG00000132300.19:ENST00000254630.12:exon23:c.T1889C:p.V630A 2p11.2 C3N-00315 . . . . . . . . . 4.20 T D P B N N M T N 0.427 T T T 0.178 0.538 0.393 0.061 T T T T T T 2.770 23.000 0.672 D D 0.036 2.640 0.026 2.451 0.995 0.707 0.725 0.702 0.714 . 5.800 5.800 6.172 1.138 0.665 0.975 0.031 0.056 565 . . . . PTCD3 146 0 125 17 0.119718309859155 TRUE TRUE +ENSG00000115548.17 . BCM GRCh38.p13 chr2 86466703 86466703 + T T C Missense_Mutation SNP ENST00000312912.10 exon10 c.T1339C p.S447P exonic ENSG00000115548.17 . nonsynonymous SNV ENSG00000115548.17:ENST00000312912.10:exon10:c.T1339C:p.S447P 2p11.2 C3N-00315 0.1139 0.1316 0.0658 0.0003 0.0850 0.1569 0.0938 0.0349 rs34605051 1.19 D T B B N P L T N 0.132 T T . 0.168 . . 0.144 T T T T T T 1.013 11.790 0.978 N N -0.761 0.714 -0.730 0.856 0.753 0.707 0.725 0.725 0.714 . 5.650 1.780 1.627 0.168 0.665 0.514 0.015 0.074 481 . 0.000 Skin_Not_Sun_Exposed_Suprapubic;Testis;Colon_Transverse;Colon_Sigmoid;Cells_Cultured_fibroblasts;Breast_Mammary_Tissue;Esophagus_Gastroesophageal_Junction;Brain_Putamen_basal_ganglia;Esophagus_Mucosa;Artery_Tibial;Muscle_Skeletal;Adipose_Visceral_Omentum;Artery_Aorta;Thyroid;Esophagus_Muscularis;Liver;Brain_Cerebellum;Adipose_Subcutaneous;Nerve_Tibial;Heart_Atrial_Appendage;Small_Intestine_Terminal_Ileum;Brain_Nucleus_accumbens_basal_ganglia;Brain_Caudate_basal_ganglia;Artery_Coronary;Whole_Blood;Lung;Pancreas;Ovary;Skin_Sun_Exposed_Lower_leg;Stomach ID=COSV57221776;OCCURENCE=1(large_intestine),1(lung) KDM3A 156 0 123 7 0.0538461538461538 TRUE TRUE +ENSG00000084090.13 . BCM GRCh38.p13 chr2 96208346 96208346 + A A T Missense_Mutation SNP ENST00000337288.9 exon1 c.T89A p.V30D exonic ENSG00000084090.13 . nonsynonymous SNV ENSG00000084090.13:ENST00000337288.9:exon1:c.T89A:p.V30D 2q11.2 C3N-00315 . . . . . . . . . 14.19 D D D D . D M T D 0.915 T T D 0.421 0.601 0.944 1.906 D T D D D T 4.543 32 0.981 D D 0.617 6.101 0.616 6.433 1.000 0.468 0.504 0.504 0.273 . 5.200 5.200 7.146 1.107 0.656 1.000 1.000 0.997 296 . . . . STARD7 266 0 207 30 0.126582278481013 TRUE TRUE +ENSG00000115665.9 . BCM GRCh38.p13 chr2 107992192 107992192 + A A G Missense_Mutation SNP ENST00000264047.3 exon3 c.A265G p.I89V exonic ENSG00000115665.9 . nonsynonymous SNV ENSG00000115665.9:ENST00000264047.3:exon3:c.A265G:p.I89V 2q12.3 C3N-00315 0.0842 0.0267 0.2044 0.1295 0.1163 0.0771 0.0808 0.0281 rs1013940 4.19 T T B B D P N D N 0.048 T T . 0.324 . . 0.701 T T T T T D 1.360 14.810 0.698 D N -0.383 1.421 -0.144 1.927 0.001 0.554 0.574 0.618 0.564 . 6.160 3.780 5.227 1.312 0.756 1.000 0.900 0.683 957 . RGPD4;RGPD4-AS1;SLC5A7 Testis;Artery_Aorta;Lung ID=COSV50889485;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue),3(soft_tissue),1(pancreas) SLC5A7 136 0 123 7 0.0538461538461538 TRUE TRUE +ENSG00000128710.6 . BCM GRCh38.p13 chr2 176117497 176117497 + A A T Nonsense_Mutation SNP ENST00000249501.5 exon1 c.A664T p.K222X exonic ENSG00000128710.6 . stopgain ENSG00000128710.6:ENST00000249501.5:exon1:c.A664T:p.K222X 2q31.1 C3N-00315 . . . . . . . . . 5.6 . . . . D A . . . 0.899 . . . . . . . . . D D . . 7.694 39 0.996 D N 0.930 11.858 0.828 11.017 1.000 0.598 0.563 0.596 0.555 . 5.960 5.960 7.144 1.308 0.750 1.000 1.000 0.996 718 . . . . HOXD10 376 0 468 80 0.145985401459854 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178672053 178672053 + T T - Frame_Shift_Del DEL ENST00000591111.5 exon151 c.34023delA p.V11342Lfs*7 exonic ENSG00000155657.27 . frameshift deletion ENSG00000155657.27:ENST00000591111.5:exon151:c.34023delA:p.V11342Lfs*7 2q31.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 164 0 156 24 0.133333333333333 TRUE TRUE +ENSG00000003393.15 . BCM GRCh38.p13 chr2 201761660 201761660 + C C G Missense_Mutation SNP ENST00000264276.11 exon4 c.G334C p.A112P exonic ENSG00000003393.15 . nonsynonymous SNV ENSG00000003393.15:ENST00000264276.11:exon4:c.G334C:p.A112P 2q33.1 C3N-00315 . . . . . . . . . 12.20 D D P B D N N D N 0.448 D T D 0.634 0.757 0.872 0.659 T T D D D D 1.689 16.950 0.994 D D -0.200 1.878 -0.182 1.830 1.000 0.707 0.725 0.725 0.714 . 6.070 5.210 3.196 0.129 -0.171 0.871 0.003 0.143 194 . . . . ALS2 174 0 270 27 0.0909090909090909 TRUE TRUE +ENSG00000168958.20 . BCM GRCh38.p13 chr2 227347288 227347288 + C C - Frame_Shift_Del DEL ENST00000353339.7 exon8 c.656delC p.A219Vfs*59 exonic ENSG00000168958.20 . frameshift deletion ENSG00000168958.20:ENST00000353339.7:exon8:c.656delC:p.A219Vfs*59 2q36.3 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MFF 145 0 109 18 0.141732283464567 TRUE TRUE +ENSG00000168137.18 . BCM GRCh38.p13 chr3 9476038 9476038 + C C T Nonsense_Mutation SNP ENST00000402198.7 exon23 c.C4276T p.R1426X exonic ENSG00000168137.18 . stopgain ENSG00000168137.18:ENST00000402198.7:exon23:c.C4276T:p.R1426X 3p25.3 C3N-00315 8.716e-06 0 0 0 0 1.588e-05 0 0 rs753779109 5.6 . . . . D D . . . 0.278 . . . . . . . . . D D . . 7.387 38 0.995 D N 0.612 6.050 0.457 4.792 0.999 0.672 0.698 0.698 0.711 . 5.170 3.200 2.064 1.026 0.549 1.000 1.000 0.999 286 . . . . SETD5 178 0 103 20 0.16260162601626 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149805 10149805 + G G C Missense_Mutation SNP ENST00000256474.3 exon3 c.G482C p.R161P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon3:c.G482C:p.R161P 3p25.3 C3N-00315 . . . . . . . . . 19.20 D D D D D D M D D 0.939 D D D 0.852 0.940 1.000 1.296 T D D D D D 4.634 32 0.998 D D 0.712 7.295 0.675 7.310 1.000 0.722 0.702 0.702 0.735 . 4.860 4.860 7.779 1.176 0.676 1.000 0.998 0.986 379 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56545213;OCCURENCE=7(kidney) VHL 403 0 296 44 0.129411764705882 TRUE TRUE +ENSG00000196653.12 . BCM GRCh38.p13 chr3 44721944 44721944 + A A - Frame_Shift_Del DEL ENST00000296091.8 exon4 c.1127delA p.K377Nfs*78 exonic ENSG00000196653.12 . frameshift deletion ENSG00000196653.12:ENST00000296091.8:exon4:c.1127delA:p.K377Nfs*78 3p21.31 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF502 140 0 74 20 0.212765957446809 TRUE TRUE +ENSG00000145041.15 . BCM GRCh38.p13 chr3 51483774 51483774 + C C T Missense_Mutation SNP ENST00000423656.5 exon2 c.G55A p.E19K exonic ENSG00000145041.15 . nonsynonymous SNV ENSG00000145041.15:ENST00000423656.5:exon2:c.G55A:p.E19K 3p21.2 C3N-00315 . . . . . . . . . 10.19 D D B B D N . T N 0.760 T T T 0.195 0.322 0.276 . D T D D D D 2.506 22.400 0.999 D D -0.020 2.442 0.151 2.955 0.570 0.732 0.744 0.710 0.714 . 5.810 4.920 5.794 1.025 0.599 1.000 1.000 1.000 5 . . . . DCAF1 250 0 169 22 0.115183246073298 TRUE TRUE +ENSG00000163635.19 . BCM GRCh38.p13 chr3 63995975 63995975 + C C - Frame_Shift_Del DEL ENST00000295900.10 exon12 c.2153delC p.S719Pfs*32 exonic ENSG00000163635.19 . frameshift deletion ENSG00000163635.19:ENST00000295900.10:exon12:c.2153delC:p.S719Pfs*32 3p14.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATXN7 167 0 104 16 0.133333333333333 TRUE TRUE +ENSG00000163380.16 . BCM GRCh38.p13 chr3 69119477 69119477 + C C T Missense_Mutation SNP ENST00000420581.7 exon2 c.G878A p.G293D exonic ENSG00000163380.16 . nonsynonymous SNV ENSG00000163380.16:ENST00000420581.7:exon2:c.G878A:p.G293D 3p14.1 C3N-00315 0.0155 0.0036 0.0071 0 0.0644 0.0161 0.0301 0.0136 rs111797345 13.19 D T D D D D M D N 0.363 D D . 0.623 . . 0.179 T T T D T D 3.164 23.800 0.996 D D 0.648 6.448 0.687 7.514 1.000 0.487 0.574 0.547 0.613 . 5.690 5.690 7.905 1.000 0.549 1.000 0.979 0.993 373 . . . . LMOD3 212 0 141 11 0.0723684210526316 TRUE NA +ENSG00000168875.3 . BCM GRCh38.p13 chr3 137765160 137765160 + C C T Missense_Mutation SNP ENST00000306087.3 exon1 c.C376T p.R126W exonic ENSG00000168875.3 . nonsynonymous SNV ENSG00000168875.3:ENST00000306087.3:exon1:c.C376T:p.R126W 3q22.3 C3N-00315 . . . . . . . . . 17.20 D T D D D D L D D 0.225 D D D 0.695 0.445 0.945 1.440 D T D D D D 4.167 28.300 0.998 D D 0.483 4.909 0.452 4.747 0.999 0.437 0.563 0.607 0.530 . 4.700 3.750 1.164 1.010 0.580 0.990 1.000 0.997 745 . . . . SOX14 173 0 154 14 0.0833333333333333 TRUE TRUE +ENSG00000169251.12 . BCM GRCh38.p13 chr3 161234852 161234857 + AAAGGT AAAGGT - Frame_Shift_Del DEL ENST00000460469.1 exon5 c.483_486del p.K162Lfs*13 exonic ENSG00000169251.12 . frameshift deletion ENSG00000169251.12:ENST00000460469.1:exon5:c.483_486del:p.K162Lfs*13 3q26.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NMD3 97 0 76 13 0.146067415730337 TRUE TRUE +ENSG00000177694.16 . BCM GRCh38.p13 chr3 175233966 175233966 + T T C Missense_Mutation SNP ENST00000454872.6 exon3 c.T581C p.M194T exonic ENSG00000177694.16 . nonsynonymous SNV ENSG00000177694.16:ENST00000454872.6:exon3:c.T581C:p.M194T 3q26.31 C3N-00315 0.6928 0.6076 0.5445 0.6729 0.7007 0.7275 0.6996 0.7130 rs4371530 0.18 T T B B N P N T N 0.020 T T . 0.063 . . 0.005 T T T T T . -0.826 0.022 0.668 N N -1.432 0.104 -1.416 0.144 0.000 0.660 0.694 0.574 0.621 . 5.870 -3.100 -0.931 -0.586 -0.707 0.009 0.949 0.921 973 . . . ID=COSV70295612;OCCURENCE=1(large_intestine),1(stomach),3(prostate) NAALADL2 163 0 131 7 0.0507246376811594 TRUE TRUE +ENSG00000178732.5 . BCM GRCh38.p13 chr3 194397309 194397309 + G G A Missense_Mutation SNP ENST00000401815.1 exon1 c.C974T p.P325L exonic ENSG00000178732.5 . nonsynonymous SNV ENSG00000178732.5:ENST00000401815.1:exon1:c.C974T:p.P325L 3q29 C3N-00315 . . . . . . . . . 6.20 D T D P N D L T D 0.117 T T D 0.074 0.448 0.575 . T T T T D T 2.849 23.100 0.997 N N -0.314 1.580 -0.470 1.251 1.000 0.437 0.616 0.607 0.555 . 3.950 0.829 0.955 0.174 0.672 0.537 0.009 0.034 784 . . . ID=COSV59879373;OCCURENCE=1(oesophagus),1(stomach) GP5 70 0 56 8 0.125 TRUE TRUE +ENSG00000156096.14 . BCM GRCh38.p13 chr4 69495478 69495478 + C C G Missense_Mutation SNP ENST00000305107.7 exon1 c.G384C p.K128N exonic ENSG00000156096.14 . nonsynonymous SNV ENSG00000156096.14:ENST00000305107.7:exon1:c.G384C:p.K128N 4q13.3 C3N-00315 8.834e-06 0 0 0 0 0 0.0012 0 rs768591561 2.20 T T B B U N M T D 0.211 T T T 0.074 0.523 0.092 0.012 T T T T T T -0.761 0.032 0.518 N N -1.531 0.072 -1.701 0.051 0.230 0.487 0.574 0.574 0.564 . 2.410 -3.740 -2.040 -0.788 -0.878 0.000 0.014 0.002 934 . . . . UGT2B4 143 0 108 20 0.15625 TRUE NA +ENSG00000138767.13 . BCM GRCh38.p13 chr4 77756897 77756897 + C C T Missense_Mutation SNP ENST00000504123.6 exon5 c.G455A p.R152Q exonic ENSG00000138767.13 . nonsynonymous SNV ENSG00000138767.13:ENST00000504123.6:exon5:c.G455A:p.R152Q 4q21.1 C3N-00315 1.046e-05 0 0 0 0 1.913e-05 0 0 rs781330689 6.20 T T B B D D L T N 0.775 T T T 0.156 0.336 0.601 . T T T T D D 2.360 21.900 0.994 D D -0.112 2.137 0.106 2.761 1.000 0.651 0.588 0.618 0.684 . 5.180 5.180 7.365 0.966 0.454 1.000 0.999 0.996 911 . . . ID=COSV53699998;OCCURENCE=1(skin),3(endometrium) CNOT6L 110 0 98 16 0.140350877192982 TRUE TRUE +ENSG00000145555.15 . BCM GRCh38.p13 chr5 16666740 16666742 + CTT CTT - In_Frame_Del DEL ENST00000513610.6 exon41 c.6127_6129del p.K2043del exonic ENSG00000145555.15 . nonframeshift deletion ENSG00000145555.15:ENST00000513610.6:exon41:c.6127_6129del:p.K2043del 5p15.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO10 189 0 154 18 0.104651162790698 TRUE TRUE +ENSG00000138829.12 . BCM GRCh38.p13 chr5 128369281 128369281 + G G A Missense_Mutation SNP ENST00000262464.9 exon16 c.C2149T p.R717C exonic ENSG00000138829.12 . nonsynonymous SNV ENSG00000138829.12:ENST00000262464.9:exon16:c.C2149T:p.R717C 5q23.3 C3N-00315 . . . . . . . . rs766945762 20.20 D D D D D D M D D 0.889 D D D 0.705 0.710 0.964 0.591 D D D D D D 3.799 25.800 0.999 D D 0.482 4.897 0.361 4.095 0.203 0.706 0.588 0.710 0.714 . 4.350 4.350 1.823 1.176 0.676 0.238 0.970 0.388 721 TB_domain . . ID=COSV52503308;OCCURENCE=1(cervix),2(large_intestine),1(stomach) FBN2 209 1 215 17 0.0732758620689655 TRUE TRUE +ENSG00000197208.6 . BCM GRCh38.p13 chr5 132335932 132335932 + T T G Missense_Mutation SNP ENST00000200652.4 exon8 c.T1376G p.M459R exonic ENSG00000197208.6 . nonsynonymous SNV ENSG00000197208.6:ENST00000200652.4:exon8:c.T1376G:p.M459R 5q31.1 C3N-00315 . . . . . . . . . 14.20 D D D P D D M T D 0.831 T T D 0.382 0.655 0.730 0.534 T T D D D D 3.631 25.100 0.985 D D 0.490 4.956 0.439 4.649 0.964 0.615 0.590 0.618 0.655 . 5.570 4.400 3.075 1.129 0.654 1.000 0.999 0.892 441 Major_facilitator_superfamily_domain . . . SLC22A4 191 0 146 29 0.165714285714286 TRUE TRUE +ENSG00000242419.5 . BCM GRCh38.p13 chr5 141486203 141486203 + A A T Missense_Mutation SNP ENST00000306593.1 exon1 c.A1030T p.N344Y exonic ENSG00000242419.5 . nonsynonymous SNV ENSG00000242419.5:ENST00000306593.1:exon1:c.A1030T:p.N344Y 5q31.3 C3N-00315 . . . . . . . . . 18.18 D D D D . D H D D 0.931 D D D 0.845 0.718 0.948 1.376 . D D D D D 4.012 27.100 0.990 D D 0.979 13.278 0.817 10.659 1.000 0.677 0.610 0.673 0.616 . 4.870 4.870 9.268 1.312 0.756 1.000 0.904 0.854 749 Cadherin-like . . . PCDHGC4 182 0 151 18 0.106508875739645 TRUE TRUE +ENSG00000070814.22 . BCM GRCh38.p13 chr5 150368798 150368798 + G G A Missense_Mutation SNP ENST00000377797.7 exon5 c.G461A p.G154E exonic ENSG00000070814.22 . nonsynonymous SNV ENSG00000070814.22:ENST00000377797.7:exon5:c.G461A:p.G154E 5q32 C3N-00315 . . . . . . . . . 11.20 D T D D D N M T D 0.436 T T D 0.257 0.204 0.447 0.310 T D T T D D 3.170 23.800 0.996 D N 0.324 3.905 0.206 3.212 1.000 0.707 0.698 0.702 0.714 . 3.700 3.700 2.328 1.176 0.676 0.997 0.726 0.301 846 Treacle_protein_domain . . . TCOF1 320 0 266 24 0.0827586206896552 TRUE TRUE +ENSG00000168131.4 . BCM GRCh38.p13 chr6 27911734 27911734 + C C T Missense_Mutation SNP ENST00000303324.4 exon1 c.G586A p.E196K exonic ENSG00000168131.4 . nonsynonymous SNV ENSG00000168131.4:ENST00000303324.4:exon1:c.G586A:p.E196K 6p22.1 C3N-00315 . . . . . . . . . 7.20 D T D D U N M T D 0.569 T T T 0.138 0.580 0.609 0.669 T T T T D D 3.198 23.900 0.999 N N 0.353 4.063 0.234 3.356 1.000 0.487 0.547 0.574 0.530 . 4.320 4.320 1.230 1.018 0.599 0.001 0.976 0.970 468 GPCR,_rhodopsin-like,_7TM . . . OR2B2 78 0 56 6 0.0967741935483871 TRUE TRUE +ENSG00000204469.13 . BCM GRCh38.p13 chr6 31637069 31637069 + C C T Nonsense_Mutation SNP ENST00000376033.3 exon29 c.C6175T p.Q2059X exonic ENSG00000204469.13 . stopgain ENSG00000204469.13:ENST00000376033.3:exon29:c.C6175T:p.Q2059X 6p21.33 C3N-00315 . . . . . . . . . 5.6 . . . . D A . . . 0.235 . . . . . . . . . D D . . 9.180 48 0.996 D N 1.078 16.596 0.939 15.508 1.000 0.672 0.702 0.702 0.711 . 6.030 5.150 2.530 1.008 0.580 1.000 0.998 0.997 884 . . . . PRRC2A 70 0 43 7 0.14 NA TRUE +ENSG00000183137.14 . BCM GRCh38.p13 chr6 109159380 109159380 + G G A Missense_Mutation SNP ENST00000517392.5 exon9 c.G934A p.D312N exonic ENSG00000183137.14 . nonsynonymous SNV ENSG00000183137.14:ENST00000517392.5:exon9:c.G934A:p.D312N 6q21 C3N-00315 . . . . . . . . . 0.20 T T B B N N N T N 0.150 T T T 0.086 0.341 0.157 . T T T T T T 0.638 7.879 0.648 N N -1.062 0.341 -1.117 0.359 0.000 0.707 0.670 0.659 0.714 . 4.720 -1.060 0.092 0.196 0.596 0.003 0.012 0.131 773 Cep57_centrosome_microtubule-binding_domain . . . CEP57L1 167 0 123 23 0.157534246575342 NA TRUE +ENSG00000131018.24 . BCM GRCh38.p13 chr6 152133348 152133364 + TTTGAGCCGATTTCCAA TTTGAGCCGATTTCCAA - Frame_Shift_Del DEL ENST00000367255.10 exon143 c.25913_25929del p.I8638Tfs*22 exonic ENSG00000131018.24 . frameshift deletion ENSG00000131018.24:ENST00000367255.10:exon143:c.25913_25929del:p.I8638Tfs*22 6q25.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE1 402 0 284 23 0.0749185667752443 TRUE TRUE +ENSG00000112584.13 . BCM GRCh38.p13 chr6 170323079 170323079 + G G T Missense_Mutation SNP ENST00000476287.3 exon3 c.G1735T p.V579F exonic ENSG00000112584.13 . nonsynonymous SNV ENSG00000112584.13:ENST00000476287.3:exon3:c.G1735T:p.V579F 6q27 C3N-00315 0.0004 0 0 0 0 0.0002 0 0.0019 rs140670595 4.20 T T P B N D M T D 0.575 T T T 0.164 . 0.403 0.402 T T T T T T 2.261 21.300 0.931 D N -0.822 0.623 -0.888 0.637 0.003 0.706 0.725 0.710 0.714 . 4.990 -1.590 0.515 -0.125 -0.163 0.998 0.983 0.255 . . . . . FAM120B 86 0 62 5 0.0746268656716418 TRUE NA +ENSG00000081803.16 . BCM GRCh38.p13 chr7 122393256 122393256 + T T A Missense_Mutation SNP ENST00000449022.7 exon22 c.A2948T p.N983I exonic ENSG00000081803.16 . nonsynonymous SNV ENSG00000081803.16:ENST00000449022.7:exon22:c.A2948T:p.N983I 7q31.32 C3N-00315 . . . . . . . . . 8.19 D T B B D D M T N 0.799 T T T 0.084 0.360 0.155 0.039 . T T T D D 2.560 22.600 0.990 D D 0.104 2.900 0.207 3.220 0.410 0.554 0.574 0.602 0.492 . 5.630 4.460 3.876 0.170 0.664 1.000 1.000 1.000 751 Munc13_homology_1 . . . CADPS2 101 0 112 7 0.0588235294117647 TRUE TRUE +ENSG00000169495.5 . BCM GRCh38.p13 chr8 38988000 38988000 + G G C Missense_Mutation SNP ENST00000302495.5 exon9 c.G1333C p.D445H exonic ENSG00000169495.5 . nonsynonymous SNV ENSG00000169495.5:ENST00000302495.5:exon9:c.G1333C:p.D445H 8p11.22 C3N-00315 0.0018 9.724e-05 0.0010 0 0.0002 0.0015 0.0045 0.0061 rs139374339 16.20 D D D D D D M D D 0.638 D D D 0.751 . 0.978 0.579 T T D D T T 3.574 25.000 0.994 D D 0.870 10.296 0.790 9.826 1.000 0.554 0.588 0.547 0.646 . 6.070 6.070 8.340 1.176 0.676 1.000 0.977 0.239 651 PDZ_domain . . . HTRA4 101 0 108 6 0.0526315789473684 TRUE NA +ENSG00000254087.8 . BCM GRCh38.p13 chr8 55947714 55947714 + T T G Missense_Mutation SNP ENST00000519728.6 exon4 c.T275G p.V92G exonic ENSG00000254087.8 . nonsynonymous SNV ENSG00000254087.8:ENST00000519728.6:exon4:c.T275G:p.V92G 8q12.1 C3N-00315 . . . . . . . . . 14.20 D D P D D D M T D 0.517 T T D 0.524 0.874 0.745 2.394 T D D T D D 4.373 31 0.988 D D 0.406 4.380 0.272 3.556 1.000 0.722 0.698 0.710 0.735 . 5.150 4.000 8.017 1.138 0.609 1.000 0.984 0.989 895 Tyrosine-protein_kinase_Lyn,_SH3_domain;SH3_domain . . . LYN 108 0 118 18 0.132352941176471 TRUE TRUE +ENSG00000147613.8 . BCM GRCh38.p13 chr8 86069614 86069614 + G G T Nonsense_Mutation SNP ENST00000276616.3 exon1 c.C9A p.C3X exonic ENSG00000147613.8 . stopgain ENSG00000147613.8:ENST00000276616.3:exon1:c.C9A:p.C3X 8q21.3 C3N-00315 . . . . . . . . . 3.5 . . . . . A . . . 0.020 . . . . . . . . . D D . . 4.242 29.100 0.991 N N 0.017 2.573 -0.286 1.593 0.999 0.447 0.563 0.504 0.530 . 4.590 -0.486 -1.370 1.002 0.618 0.000 0.824 0.295 487 . . . . PSKH2 76 0 66 15 0.185185185185185 TRUE NA +ENSG00000147649.10 . BCM GRCh38.p13 chr8 97687542 97687542 + A A G Missense_Mutation SNP ENST00000336273.8 exon4 c.A682G p.I228V exonic ENSG00000147649.10 . nonsynonymous SNV ENSG00000147649.10:ENST00000336273.8:exon4:c.A682G:p.I228V 8q22.1 C3N-00315 . . . . . . . . . 1.20 T T B B N N N T N 0.054 T T T 0.093 0.154 0.117 0.267 T T T T T T 1.401 15.090 0.937 D N -0.472 1.231 -0.230 1.715 0.693 0.707 0.702 0.725 0.714 . 5.420 2.980 2.025 1.312 0.756 1.000 1.000 1.000 887 . . . . MTDH 114 0 94 13 0.121495327102804 TRUE TRUE +ENSG00000104361.10 . BCM GRCh38.p13 chr8 98193085 98193085 + G G T Missense_Mutation SNP ENST00000430223.7 exon11 c.C1045A p.Q349K exonic ENSG00000104361.10 . nonsynonymous SNV ENSG00000104361.10:ENST00000430223.7:exon11:c.C1045A:p.Q349K 8q22.2 C3N-00315 . . . . . . . . . 7.20 D T B B N N N D N 0.082 T T D 0.362 0.309 0.544 0.181 T T D D D T 2.259 21.300 0.967 D N -0.013 2.465 0.211 3.236 1.000 0.638 0.670 0.618 0.580 . 5.650 5.650 4.133 1.176 0.676 1.000 1.000 0.996 920 . . . . NIPAL2 91 0 110 10 0.0833333333333333 TRUE TRUE +ENSG00000179698.14 . BCM GRCh38.p13 chr8 144108335 144108335 + G G A Missense_Mutation SNP ENST00000323662.9 exon3 c.G269A p.R90H exonic ENSG00000179698.14 . nonsynonymous SNV ENSG00000179698.14:ENST00000323662.9:exon3:c.G269A:p.R90H 8q24.3 C3N-00315 9.504e-05 0 0 0.0077 0 0 0 0 rs758429623 1.16 T T . . N N . T N 0.033 T T D 0.054 0.469 0.151 . . T T T T T 0.532 6.832 0.947 N N -0.922 0.493 -1.096 0.380 1.000 0.649 0.514 0.608 0.636 . 4.490 -2.340 -0.428 -0.126 -0.113 0.000 0.014 0.069 970 . . . . WDR97 125 0 138 12 0.08 TRUE NA +ENSG00000228278.4 . BCM GRCh38.p13 chr9 114330438 114330438 + C C T Missense_Mutation SNP ENST00000431067.3 exon2 c.C119T p.T40I exonic ENSG00000228278.4 . nonsynonymous SNV ENSG00000228278.4:ENST00000431067.3:exon2:c.C119T:p.T40I 9q32 C3N-00315 . . . . . . . . . 3.19 D D B B N D N T N 0.296 T T T 0.056 0.602 0.220 1.879 . T T T T T 1.756 17.410 0.986 N N -0.678 0.851 -0.671 0.941 1.000 0.615 0.551 0.659 0.542 . 3.110 2.170 0.478 0.921 0.489 0.588 0.837 0.081 624 Lipocalin/cytosolic_fatty-acid_binding_domain . . . ORM2 522 0 387 66 0.145695364238411 NA TRUE +ENSG00000078725.13 . BCM GRCh38.p13 chr9 119167353 119167365 + CTGCACTGCGCAG CTGCACTGCGCAG - Frame_Shift_Del DEL ENST00000265922.8 exon8 c.2005_2017del p.L669Cfs*20 exonic ENSG00000078725.13 . frameshift deletion ENSG00000078725.13:ENST00000265922.8:exon8:c.2005_2017del:p.L669Cfs*20 9q33.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRINP1 229 0 168 15 0.0819672131147541 TRUE TRUE +ENSG00000138316.11 . BCM GRCh38.p13 chr10 70758074 70758074 + G G A Missense_Mutation SNP ENST00000373207.2 exon20 c.G3050A p.S1017N exonic ENSG00000138316.11 . nonsynonymous SNV ENSG00000138316.11:ENST00000373207.2:exon20:c.G3050A:p.S1017N 10q22.1 C3N-00315 0.1882 0.1752 0.2317 0.3508 0.2351 0.1658 0.1937 0.1499 rs10999516 1.19 T T B B N P N T N 0.232 T T . 0.133 . . 0.315 T T T T T T 2.458 22.300 0.982 D N -0.367 1.455 -0.164 1.874 1.000 0.615 0.610 0.659 0.542 . 4.340 3.390 2.491 1.176 0.676 0.998 1.000 0.977 368 . ADAMTS14;PALD1;SGPL1 Muscle_Skeletal;Nerve_Tibial;Skin_Sun_Exposed_Lower_leg ID=COSV64602135;OCCURENCE=1(breast),1(large_intestine),2(thyroid) ADAMTS14 87 0 62 4 0.0606060606060606 TRUE TRUE +ENSG00000204033.10 . BCM GRCh38.p13 chr10 84222246 84222246 + C C T Missense_Mutation SNP ENST00000372113.7 exon3 c.G1327A p.G443S exonic ENSG00000204033.10 . nonsynonymous SNV ENSG00000204033.10:ENST00000372113.7:exon3:c.G1327A:p.G443S 10q23.1 C3N-00315 . . . . . . . . . 9.20 D T D D D D M T N 0.147 T T T 0.117 0.326 0.618 0.021 T T T T D T 3.460 24.600 0.998 D D 0.595 5.871 0.532 5.466 0.415 0.497 0.563 0.547 0.542 . 4.750 4.750 5.308 1.023 0.595 1.000 0.726 0.744 937 . . . . LRIT2 285 2 224 38 0.145038167938931 TRUE TRUE +ENSG00000062650.19 . BCM GRCh38.p13 chr10 86472697 86472697 + G G A Missense_Mutation SNP ENST00000298767.10 exon6 c.C1808T p.S603F exonic ENSG00000062650.19 . nonsynonymous SNV ENSG00000062650.19:ENST00000298767.10:exon6:c.C1808T:p.S603F 10q23.2 C3N-00315 . . . . . . . . . 5.20 D D B B N D N T N 0.238 T T T 0.052 0.299 0.043 1.665 T T T T T D 2.781 23.000 0.994 D N -0.245 1.753 -0.041 2.225 1.000 0.707 0.725 0.725 0.714 . 5.710 3.730 4.629 0.245 0.676 1.000 0.995 0.993 897 . . . . WAPL 96 0 101 20 0.165289256198347 TRUE TRUE +ENSG00000165672.7 . BCM GRCh38.p13 chr10 119172395 119172395 + C C T Missense_Mutation SNP ENST00000298510.4 exon5 c.G538A p.G180S exonic ENSG00000165672.7 . nonsynonymous SNV ENSG00000165672.7:ENST00000298510.4:exon5:c.G538A:p.G180S 10q26.11 C3N-00315 . . . . . . . . . 15.20 D D D D D D M T D 0.829 T T D 0.616 0.832 0.670 0.387 T T D D D D 4.038 27.300 0.999 D D 0.809 8.955 0.711 7.956 1.000 0.707 0.702 0.702 0.714 . 5.470 5.470 7.847 0.966 0.530 1.000 0.736 0.995 923 Alkyl_hydroperoxide_reductase_subunit_C/_Thiol_specific_antioxidant;Thioredoxin_domain . . . PRDX3 186 0 129 22 0.145695364238411 TRUE NA +ENSG00000185101.13 . BCM GRCh38.p13 chr11 433867 433867 + G G A Missense_Mutation SNP ENST00000332826.7 exon3 c.C152T p.A51V exonic ENSG00000185101.13 . nonsynonymous SNV ENSG00000185101.13:ENST00000332826.7:exon3:c.C152T:p.A51V 11p15.5 C3N-00315 0.2633 0.3101 0.2545 0.2872 0.375 0.2799 0.2207 0.2102 rs12575508 0.19 T T B B N P N T N 0.016 T T . 0.035 . . 0.236 T T T T T T -1.440 0.001 0.726 N N -1.693 0.038 -1.781 0.037 0.638 0.706 0.710 0.723 0.613 . 2.880 -4.120 -4.205 -0.550 -0.335 0.000 0.000 0.013 900 . 0.000 Skin_Not_Sun_Exposed_Suprapubic;Testis;Colon_Transverse;Spleen;Brain_Hypothalamus;Brain_Frontal_Cortex_BA9;Brain_Cerebellar_Hemisphere;Colon_Sigmoid;Cells_Cultured_fibroblasts;Brain_Cortex;Breast_Mammary_Tissue;Heart_Left_Ventricle;Esophagus_Gastroesophageal_Junction;Esophagus_Mucosa;Artery_Tibial;Muscle_Skeletal;Adipose_Visceral_Omentum;Artery_Aorta;Thyroid;Esophagus_Muscularis;Brain_Cerebellum;Adipose_Subcutaneous;Prostate;Nerve_Tibial;Heart_Atrial_Appendage;Brain_Nucleus_accumbens_basal_ganglia;Brain_Caudate_basal_ganglia;Whole_Blood;Lung;Pancreas;Ovary;Skin_Sun_Exposed_Lower_leg ID=COSV60448708;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue),3(lung),1(thyroid) ANO9 148 0 114 6 0.05 NA TRUE +ENSG00000110713.17 . BCM GRCh38.p13 chr11 3702536 3702536 + G G T Missense_Mutation SNP ENST00000359171.8 exon23 c.C3490A p.H1164N exonic ENSG00000110713.17 . nonsynonymous SNV ENSG00000110713.17:ENST00000359171.8:exon23:c.C3490A:p.H1164N 11p15.4 C3N-00315 . . . . . . . . . 1.19 T T B B N N L . N 0.265 T T T 0.027 0.260 0.469 0.208 T T T T D T 1.476 15.580 0.851 N N -0.571 1.041 -0.456 1.275 1.000 0.719 0.725 0.702 0.734 . 5.350 3.370 0.848 0.224 0.676 0.001 0.973 0.993 525 . . . . NUP98 228 0 159 33 0.171875 TRUE TRUE +ENSG00000183389.5 . BCM GRCh38.p13 chr11 6002587 6002587 + G G A Missense_Mutation SNP ENST00000641156.1 exon3 c.C406T p.P136S exonic ENSG00000183389.5 . nonsynonymous SNV ENSG00000183389.5:ENST00000641156.1:exon3:c.C406T:p.P136S 11p15.4 C3N-00315 . . . . . . . . . 1.20 T T B B U N N T D 0.062 T T T 0.044 0.424 0.076 0.075 T T T T T T 0.280 4.056 0.730 N N -1.110 0.298 -1.091 0.385 0.000 0.487 0.574 0.555 0.564 . 3.590 1.550 -1.286 -0.136 -0.123 0.000 0.106 0.281 808 GPCR,_rhodopsin-like,_7TM . . ID=COSV58110257;OCCURENCE=1(skin) OR56A4 169 0 140 19 0.119496855345912 TRUE TRUE +ENSG00000173020.11 . BCM GRCh38.p13 chr11 67277331 67277331 + T T C Missense_Mutation SNP ENST00000308595.10 exon2 c.T173C p.I58T exonic ENSG00000173020.11 . nonsynonymous SNV ENSG00000173020.11:ENST00000308595.10:exon2:c.T173C:p.I58T 11q13.2 C3N-00315 . . . . . . . . . 12.20 D D D D D D M T D 0.768 T T T 0.344 0.685 0.043 0.517 T T T T D D 4.227 28.900 0.998 D D 0.735 7.644 0.701 7.765 1.000 0.545 0.522 0.602 0.562 . 5.210 5.210 5.852 1.138 0.665 1.000 1.000 0.998 296 RGS_domain . . . GRK2 172 0 120 23 0.160839160839161 TRUE TRUE +ENSG00000165490.13 . BCM GRCh38.p13 chr11 82933862 82933862 + G G A Missense_Mutation SNP ENST00000533655.6 exon6 c.G2524A p.V842I exonic ENSG00000165490.13 . nonsynonymous SNV ENSG00000165490.13:ENST00000533655.6:exon6:c.G2524A:p.V842I 11q14.1 C3N-00315 0.5169 0.7355 0.6352 0.3364 0.4847 0.4998 0.4922 0.4745 rs7130899 0.17 T T B B N P . T N 0.004 T T . 0.019 . . 0.029 . T T T T T -1.067 0.005 0.543 N N -1.757 0.028 -1.776 0.037 0.999 0.732 0.654 0.744 0.655 . 5.450 -8.020 -0.572 -1.021 -0.092 0.000 0.003 0.029 514 . 0.000 Cells_EBV-transformed_lymphocytes;Testis;Cells_Cultured_fibroblasts;Breast_Mammary_Tissue;Heart_Left_Ventricle;Esophagus_Gastroesophageal_Junction;Esophagus_Mucosa;Artery_Tibial;Muscle_Skeletal;Artery_Aorta;Thyroid;Esophagus_Muscularis;Brain_Cerebellum;Adipose_Subcutaneous;Nerve_Tibial;Heart_Atrial_Appendage;Whole_Blood;Skin_Sun_Exposed_Lower_leg ID=COSV61271950;OCCURENCE=1(large_intestine),1(stomach),1(pancreas),3(lung),1(thyroid) DDIAS 175 0 147 8 0.0516129032258065 TRUE TRUE +ENSG00000188771.5 . BCM GRCh38.p13 chr11 112248866 112248866 + A A C Missense_Mutation SNP ENST00000338832.4 exon4 c.T557G p.F186C exonic ENSG00000188771.5 . nonsynonymous SNV ENSG00000188771.5:ENST00000338832.4:exon4:c.T557G:p.F186C 11q23.1 C3N-00315 . . . . . . . . . 6.18 D D D D . N L T D 0.412 T T T 0.192 0.326 0.277 . . T T T D T 3.118 23.700 0.979 N N -0.385 1.416 -0.388 1.395 0.603 0.568 0.547 0.547 0.634 . 5.220 2.750 1.459 0.241 0.740 0.955 0.002 0.006 811 . . . . PLET1 188 0 124 30 0.194805194805195 TRUE TRUE +ENSG00000111642.16 . BCM GRCh38.p13 chr12 6602411 6602411 + G G A Missense_Mutation SNP ENST00000544040.7 exon3 c.C187T p.P63S exonic ENSG00000111642.16;ENSG00000285238.2 . nonsynonymous SNV ENSG00000111642.16:ENST00000544040.7:exon3:c.C187T:p.P63S,ENSG00000285238.2:ENST00000644480.2:exon3:c.C187T:p.P63S 12p13.31 C3N-00315 . . . . . . . . . 6.20 T T B B N D N D D 0.297 T T T 0.279 0.259 0.754 0.024 T T T T D D 2.231 21.100 0.971 D N -0.141 2.049 0.104 2.750 1.000 0.707 0.698 0.702 0.714 . 5.260 5.260 3.498 1.176 0.676 1.000 1.000 0.997 371 . . . ID=COSV58911652;OCCURENCE=1(skin) CHD4 176 0 149 40 0.211640211640212 TRUE TRUE +ENSG00000029153.14 . BCM GRCh38.p13 chr12 27400633 27400633 + A A G Missense_Mutation SNP ENST00000266503.9 exon10 c.A1019G p.N340S exonic ENSG00000029153.14 . nonsynonymous SNV ENSG00000029153.14:ENST00000266503.9:exon10:c.A1019G:p.N340S 12p11.23 C3N-00315 0.0471 0.0245 0.0190 0.0003 0.0774 0.0508 0.0584 0.0778 rs1037921 0.19 T T B B N N N T N 0.050 T T . 0.089 . . 0.087 T T T T T T 0.886 10.290 0.889 N N -0.727 0.767 -0.669 0.944 0.000 0.706 0.725 0.710 0.613 . 3.590 0.400 4.196 -0.307 -0.074 0.905 0.001 0.982 779 . . . ID=COSV53825849;OCCURENCE=1(large_intestine),1(soft_tissue) ARNTL2 100 0 99 6 0.0571428571428571 TRUE TRUE +ENSG00000188906.16 . BCM GRCh38.p13 chr12 40320093 40320093 + T T C Missense_Mutation SNP ENST00000298910.12 exon34 c.T4933C p.Y1645H exonic ENSG00000188906.16 . nonsynonymous SNV ENSG00000188906.16:ENST00000298910.12:exon34:c.T4933C:p.Y1645H 12q12 C3N-00315 . . . . . . . . . 6.20 T T B B D D N T N 0.245 T T T 0.103 0.332 0.791 0.533 T T T T D D 2.463 22.300 0.979 D D -0.103 2.164 0.116 2.800 0.821 0.554 0.588 0.574 0.564 . 5.550 5.550 5.388 1.134 0.603 1.000 1.000 0.998 788 C-terminal_of_Roc_(COR)_domain . . . LRRK2 116 0 96 16 0.142857142857143 TRUE TRUE +ENSG00000076108.11 . BCM GRCh38.p13 chr12 56605288 56605288 + G G T Missense_Mutation SNP ENST00000551812.5 exon14 c.C2539A p.P847T exonic ENSG00000076108.11 . nonsynonymous SNV ENSG00000076108.11:ENST00000551812.5:exon14:c.C2539A:p.P847T 12q13.3 C3N-00315 . . . . . . . . . 6.20 T T P B D D L T N 0.672 T T D 0.218 0.509 0.586 1.232 T T T T D D 2.500 22.400 0.942 D N 0.049 2.689 0.110 2.776 0.387 0.707 0.702 0.725 0.714 . 5.030 4.130 1.659 0.245 0.676 0.999 0.933 0.876 73 . . . . BAZ2A 75 0 63 26 0.292134831460674 TRUE TRUE +ENSG00000178235.8 . BCM GRCh38.p13 chr13 83881197 83881197 + C C T Missense_Mutation SNP ENST00000377084.3 exon1 c.G311A p.G104E exonic ENSG00000178235.8 . nonsynonymous SNV ENSG00000178235.8:ENST00000377084.3:exon1:c.G311A:p.G104E 13q31.1 C3N-00315 . . . . . . . . rs866484290 15.20 D D D D D D L T D 0.869 T T D 0.640 0.756 0.671 1.450 D T D D D D 3.938 26.600 0.988 D D 0.794 8.672 0.738 8.524 1.000 0.455 0.547 0.607 0.564 . 4.550 4.550 7.905 1.026 0.599 1.000 1.000 0.999 973 . . . . SLITRK1 297 0 278 40 0.125786163522013 TRUE NA +ENSG00000134873.10 . BCM GRCh38.p13 chr13 95560250 95560250 + A A T Missense_Mutation SNP ENST00000299339.3 exon2 c.A339T p.K113N exonic ENSG00000134873.10 . nonsynonymous SNV ENSG00000134873.10:ENST00000299339.3:exon2:c.A339T:p.K113N 13q32.1 C3N-00315 . . . . . . . . . 17.20 D T D P D D M D D 0.933 D D D 0.759 0.560 0.994 0.895 T D D D D D 3.313 24.200 0.999 D D 0.777 8.344 0.746 8.707 1.000 0.706 0.563 0.710 0.586 . 5.750 4.590 7.097 1.233 0.665 1.000 1.000 0.999 952 . . . . CLDN10 148 0 167 14 0.0773480662983425 TRUE TRUE +ENSG00000092200.12 . BCM GRCh38.p13 chr14 21302571 21302571 + A A G Missense_Mutation SNP ENST00000400017.6 exon4 c.A574G p.K192E exonic ENSG00000092200.12 . nonsynonymous SNV ENSG00000092200.12:ENST00000400017.6:exon4:c.A574G:p.K192E 14q11.2 C3N-00315 0.5480 0.4923 0.5927 0.3910 0.5823 0.5445 0.5765 0.6206 rs6571751 0.19 T T B B N P N T N 0.121 T T . 0.140 . . 0.091 T T T T T T 0.632 7.817 0.565 N N -1.377 0.127 -1.275 0.226 1.000 0.554 0.492 0.602 0.530 . 4.000 3.110 1.432 0.167 -0.110 0.028 0.002 0.005 958 . RPGRIP1 Thyroid;Liver;Colon_Transverse;Brain_Cerebellum;Heart_Atrial_Appendage;Pancreas;Skin_Sun_Exposed_Lower_leg;Heart_Left_Ventricle;Stomach;Esophagus_Mucosa ID=COSV52846904;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) RPGRIP1 93 0 87 6 0.0645161290322581 TRUE TRUE +ENSG00000126773.13 . BCM GRCh38.p13 chr14 60107800 60107800 + G G C Missense_Mutation SNP ENST00000406854.6 exon2 c.G162C p.W54C exonic ENSG00000126773.13 . nonsynonymous SNV ENSG00000126773.13:ENST00000406854.6:exon2:c.G162C:p.W54C 14q23.1 C3N-00315 . . . . . . . . . 5.17 D D . . U D L T N 0.257 T T T 0.062 0.396 0.311 . . T T T T D 2.345 21.800 0.935 D N -0.005 2.492 -0.003 2.350 1.000 0.732 0.744 0.659 0.714 . 5.630 2.640 0.541 0.245 0.676 0.998 0.311 0.743 600 . . . . PCNX4 199 0 174 31 0.151219512195122 TRUE NA +ENSG00000100644.17 . BCM GRCh38.p13 chr14 61720472 61720472 + T T - Frame_Shift_Del DEL ENST00000337138.9 exon2 c.126delT p.Q43Sfs*8 exonic ENSG00000100644.17 . frameshift deletion ENSG00000100644.17:ENST00000337138.9:exon2:c.126delT:p.Q43Sfs*8 14q23.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIF1A 184 0 130 20 0.133333333333333 TRUE TRUE +ENSG00000054654.18 . BCM GRCh38.p13 chr14 64221668 64221668 + C C - Frame_Shift_Del DEL ENST00000344113.8 exon111 c.20085delC p.R6697Gfs*4 exonic ENSG00000054654.18 . frameshift deletion ENSG00000054654.18:ENST00000344113.8:exon111:c.20085delC:p.R6697Gfs*4 14q23.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE2 284 0 174 27 0.134328358208955 TRUE TRUE +ENSG00000188089.13 . BCM GRCh38.p13 chr15 41985898 41985898 + G G C Missense_Mutation SNP ENST00000399518.3 exon18 c.C2143G p.P715A exonic ENSG00000188089.13 . nonsynonymous SNV ENSG00000188089.13:ENST00000399518.3:exon18:c.C2143G:p.P715A 15q15.1 C3N-00315 . . . . . . . . . 7.16 D D . . D N . T D 0.405 T T T 0.205 . 0.542 0.197 T . T T D D 3.331 24.200 0.996 D N 0.446 4.643 0.442 4.669 0.999 0.554 0.547 0.602 0.542 . 5.720 4.800 2.605 1.176 0.676 0.996 0.996 0.699 64 Lysophospholipase,_catalytic_domain . . . PLA2G4E 190 0 174 16 0.0842105263157895 TRUE TRUE +ENSG00000069869.16 . BCM GRCh38.p13 chr15 55842050 55842050 + C C A Missense_Mutation SNP ENST00000508342.5 exon15 c.G2979T p.W993C exonic ENSG00000069869.16 . nonsynonymous SNV ENSG00000069869.16:ENST00000508342.5:exon15:c.G2979T:p.W993C 15q21.3 C3N-00315 . . . . . . . . . 19.20 D D D D D D M T D 0.839 D D D 0.609 0.534 0.947 0.381 D D D D D D 4.336 29.900 0.992 D D 0.916 11.466 0.904 13.914 1.000 0.707 0.670 0.618 0.714 . 6.170 5.230 6.081 0.966 0.530 1.000 1.000 0.996 731 HECT_domain . . . NEDD4 311 0 273 48 0.149532710280374 TRUE TRUE +ENSG00000140545.15 . BCM GRCh38.p13 chr15 88899765 88899765 + C C G Missense_Mutation SNP ENST00000268150.13 exon7 c.G917C p.G306A exonic ENSG00000140545.15 . nonsynonymous SNV ENSG00000140545.15:ENST00000268150.13:exon7:c.G917C:p.G306A 15q26.1 C3N-00315 . . . . . . . . . 18.20 D D D D N D H D D 0.969 D D D 0.869 0.962 0.933 0.567 T D D D D D 3.736 25.600 0.998 D D 0.844 9.696 0.706 7.868 1.000 0.722 0.634 0.699 0.613 . 5.030 4.100 7.715 1.010 0.529 1.000 1.000 0.897 958 Coagulation_factor_5/8_C-terminal_domain . . . MFGE8 322 0 260 49 0.158576051779935 TRUE TRUE +ENSG00000206177.7 . BCM GRCh38.p13 chr16 166304 166304 + C C - Frame_Shift_Del DEL ENST00000356815.4 exon2 c.129delC p.P44Rfs*3 exonic ENSG00000206177.7 . frameshift deletion ENSG00000206177.7:ENST00000356815.4:exon2:c.129delC:p.P44Rfs*3 16p13.3 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HBM 167 0 145 26 0.152046783625731 TRUE TRUE +ENSG00000158486.13 . BCM GRCh38.p13 chr16 20955050 20955050 + G G T Missense_Mutation SNP ENST00000261383.3 exon55 c.C10834A p.L3612I exonic ENSG00000158486.13 . nonsynonymous SNV ENSG00000158486.13:ENST00000261383.3:exon55:c.C10834A:p.L3612I 16p12.3 C3N-00315 . . . . . . . . . 7.19 D . D D N D L T N 0.609 T T T 0.300 0.752 0.150 0.381 T T T T D D 2.646 22.700 0.991 D N -0.056 2.319 -0.143 1.930 0.002 0.497 0.547 0.547 0.542 . 5.430 -0.670 0.336 -0.560 -0.633 0.996 0.994 0.991 346 Dynein_heavy_chain_domain . . . DNAH3 58 0 43 9 0.173076923076923 TRUE TRUE +ENSG00000090905.19 . BCM GRCh38.p13 chr16 24777324 24777324 + T T A Missense_Mutation SNP ENST00000395799.8 exon5 c.T555A p.N185K exonic ENSG00000090905.19 . nonsynonymous SNV ENSG00000090905.19:ENST00000395799.8:exon5:c.T555A:p.N185K 16p12.1 C3N-00315 0.1747 0.2152 0.1609 0.1095 0.1325 0.1909 0.1733 0.1460 rs11639856 2.19 T T B B N P N T N 0.109 T T . 0.089 . . 0.104 T T T T T D 1.476 15.580 0.586 D N -0.627 0.939 -0.391 1.389 1.000 0.707 0.725 0.702 0.714 . 5.840 2.440 0.846 1.138 0.609 0.931 1.000 1.000 379 . SLC5A11 Skin_Not_Sun_Exposed_Suprapubic;Cells_EBV-transformed_lymphocytes;Testis;Colon_Transverse;Adrenal_Gland;Spleen;Colon_Sigmoid;Cells_Cultured_fibroblasts;Breast_Mammary_Tissue;Esophagus_Gastroesophageal_Junction;Esophagus_Mucosa;Artery_Tibial;Muscle_Skeletal;Adipose_Visceral_Omentum;Uterus;Artery_Aorta;Pituitary;Thyroid;Esophagus_Muscularis;Liver;Adipose_Subcutaneous;Minor_Salivary_Gland;Prostate;Nerve_Tibial;Heart_Atrial_Appendage;Vagina;Artery_Coronary;Whole_Blood;Lung;Pancreas;Ovary;Skin_Sun_Exposed_Lower_leg;Stomach ID=COSV59361345;OCCURENCE=1(large_intestine),1(bone),2(haematopoietic_and_lymphoid_tissue),1(urinary_tract),1(skin) TNRC6A 134 0 102 6 0.0555555555555556 NA TRUE +ENSG00000224470.8 . BCM GRCh38.p13 chr16 71851520 71851520 + A A G Missense_Mutation SNP ENST00000427980.7 exon3 c.A1780G p.S594G exonic ENSG00000224470.8 . nonsynonymous SNV ENSG00000224470.8:ENST00000427980.7:exon3:c.A1780G:p.S594G 16q22.2 C3N-00315 0.1937 0.0421 0.2402 0.2994 0.2353 0.1955 0.2181 0.2208 rs61747555 1.18 T T B B . P N T N 0.009 T T . 0.117 . . . T T T T T T 2.121 20.300 0.947 D N -0.400 1.382 -0.180 1.834 0.998 0.632 0.698 0.576 0.636 . 5.610 3.010 3.763 1.312 0.756 1.000 1.000 1.000 84 . 0.000 Skin_Not_Sun_Exposed_Suprapubic;Cells_EBV-transformed_lymphocytes;Testis;Adrenal_Gland;Spleen;Brain_Cerebellar_Hemisphere;Cells_Cultured_fibroblasts;Brain_Hippocampus;Heart_Left_Ventricle;Esophagus_Gastroesophageal_Junction;Esophagus_Mucosa;Artery_Tibial;Muscle_Skeletal;Artery_Aorta;Thyroid;Esophagus_Muscularis;Brain_Cerebellum;Adipose_Subcutaneous;Nerve_Tibial;Artery_Coronary;Ovary;Skin_Sun_Exposed_Lower_leg;Stomach ID=COSV70235650;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(lung) ATXN1L 190 0 138 8 0.0547945205479452 TRUE NA +ENSG00000140836.17 . BCM GRCh38.p13 chr16 72959262 72959262 + - NA GG Frame_Shift_Ins INS ENST00000268489.10 exon2 c.883_884insCC p.R295Pfs*5 exonic ENSG00000140836.17 . frameshift insertion ENSG00000140836.17:ENST00000268489.10:exon2:c.883_884insCC:p.R295Pfs*5 16q22.3 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFHX3 NA NA NA NA NA NA NA +ENSG00000103335.22 . BCM GRCh38.p13 chr16 88734444 88734444 + G G T Missense_Mutation SNP ENST00000301015.14 exon16 c.C2092A p.L698M exonic ENSG00000103335.22 . nonsynonymous SNV ENSG00000103335.22:ENST00000301015.14:exon16:c.C2092A:p.L698M 16q24.3 C3N-00315 . . . . . . . . . 13.20 D D D D D D M T N 0.589 T T D 0.130 0.178 0.093 . D T T T D D 3.707 25.400 0.996 D D 0.481 4.889 0.399 4.351 1.000 0.707 0.702 0.723 0.714 . 4.760 3.800 5.218 1.146 0.618 1.000 1.000 0.997 862 . . . . PIEZO1 75 0 48 7 0.127272727272727 TRUE TRUE +ENSG00000167522.16 . BCM GRCh38.p13 chr16 89284423 89284423 + C C - Frame_Shift_Del DEL ENST00000301030.10 exon9 c.2119delG p.E707Kfs*12 exonic ENSG00000167522.16 . frameshift deletion ENSG00000167522.16:ENST00000301030.10:exon9:c.2119delG:p.E707Kfs*12 16q24.3 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD11 272 0 178 40 0.18348623853211 TRUE TRUE +ENSG00000198920.11 . BCM GRCh38.p13 chr17 6589878 6589878 + T T C Missense_Mutation SNP ENST00000361413.8 exon18 c.A2687G p.Q896R exonic ENSG00000198920.11 . nonsynonymous SNV ENSG00000198920.11:ENST00000361413.8:exon18:c.A2687G:p.Q896R 17p13.1 C3N-00315 0.6225 0.7813 0.7617 0.6972 0.5541 0.5687 0.6089 0.6372 rs1443417 0.18 T T B B N P . T N 0.028 T T . 0.014 . . 0.081 T T T T T T 1.181 13.480 0.122 N N -1.004 0.399 -0.799 0.759 0.686 0.707 0.654 0.725 0.636 . 5.640 2.430 1.731 -0.280 -0.171 0.992 0.376 0.216 846 . 0.000 Skin_Not_Sun_Exposed_Suprapubic;Cells_EBV-transformed_lymphocytes;Testis;Colon_Transverse;Adrenal_Gland;Spleen;Brain_Cerebellar_Hemisphere;Colon_Sigmoid;Cells_Cultured_fibroblasts;Brain_Cortex;Breast_Mammary_Tissue;Esophagus_Gastroesophageal_Junction;Esophagus_Mucosa;Artery_Tibial;Adipose_Visceral_Omentum;Uterus;Artery_Aorta;Pituitary;Thyroid;Esophagus_Muscularis;Brain_Cerebellum;Adipose_Subcutaneous;Prostate;Nerve_Tibial;Heart_Atrial_Appendage;Small_Intestine_Terminal_Ileum;Brain_Nucleus_accumbens_basal_ganglia;Vagina;Brain_Caudate_basal_ganglia;Whole_Blood;Lung;Pancreas;Skin_Sun_Exposed_Lower_leg;Stomach ID=COSV63816774;OCCURENCE=1(bone),1(haematopoietic_and_lymphoid_tissue) KIAA0753 170 0 132 7 0.0503597122302158 TRUE TRUE +ENSG00000108799.13 . BCM GRCh38.p13 chr17 42707984 42707984 + T T C Missense_Mutation SNP ENST00000428826.7 exon15 c.A1634G p.E545G exonic ENSG00000108799.13 . nonsynonymous SNV ENSG00000108799.13:ENST00000428826.7:exon15:c.A1634G:p.E545G 17q21.2 C3N-00315 . . . . . . . . . 19.20 D D D D D D M T D 0.795 D D D 0.716 0.187 0.932 2.584 D D D D D D 4.496 32 0.999 D D 0.910 11.299 0.853 11.886 1.000 0.707 0.725 0.725 0.636 . 5.450 5.450 8.017 1.138 0.665 1.000 1.000 0.998 242 CXC_domain . . . EZH1 112 0 98 7 0.0666666666666667 TRUE TRUE +ENSG00000172992.12 . BCM GRCh38.p13 chr17 45034306 45034306 + C C A Missense_Mutation SNP ENST00000651974.1 exon3 c.G197T p.R66L exonic ENSG00000172992.12 . nonsynonymous SNV ENSG00000172992.12:ENST00000651974.1:exon3:c.G197T:p.R66L 17q21.31 C3N-00315 . . . . . . . . . 17.20 D D D D D D H T D 0.973 D D D 0.804 0.947 0.836 1.008 T T D D D D 4.194 28.600 0.999 D D 1.091 17.133 0.960 16.586 1.000 0.706 0.725 0.710 0.714 . 5.040 5.040 7.697 1.026 0.599 1.000 1.000 0.995 621 . . . . DCAKD 303 0 260 33 0.112627986348123 TRUE NA +ENSG00000121068.14 . BCM GRCh38.p13 chr17 61401691 61401691 + T T - Frame_Shift_Del DEL ENST00000240328.4 exon2 c.403delT p.F135Sfs*20 exonic ENSG00000121068.14 . frameshift deletion ENSG00000121068.14:ENST00000240328.4:exon2:c.403delT:p.F135Sfs*20 17q23.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBX2 92 0 63 20 0.240963855421687 TRUE TRUE +ENSG00000132874.15 . BCM GRCh38.p13 chr18 45632414 45632414 + T T - Frame_Shift_Del DEL ENST00000255226.11 exon5 c.586delT p.F196Sfs*5 exonic ENSG00000132874.15 . frameshift deletion ENSG00000132874.15:ENST00000255226.11:exon5:c.586delT:p.F196Sfs*5 18q12.3 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC14A2 172 0 148 16 0.0975609756097561 TRUE TRUE +ENSG00000152223.15 . BCM GRCh38.p13 chr18 45879106 45879106 + C C A Missense_Mutation SNP ENST00000282041.11 exon33 c.G5776T p.D1926Y exonic ENSG00000152223.15 . nonsynonymous SNV ENSG00000152223.15:ENST00000282041.11:exon33:c.G5776T:p.D1926Y 18q12.3 C3N-00315 . . . . . . . . . 7.19 D D B B . D L T N 0.413 T T T 0.047 0.340 0.193 0.256 T T T T D D 2.329 21.700 0.983 D D 0.039 2.653 0.157 2.982 1.000 0.707 0.709 0.659 0.714 . 5.250 4.360 4.068 1.026 0.599 1.000 1.000 0.998 981 . . . . EPG5 174 0 156 25 0.138121546961326 TRUE TRUE +ENSG00000127533.4 . BCM GRCh38.p13 chr19 16889821 16889821 + G G A Missense_Mutation SNP ENST00000248076.4 exon2 c.G358A p.A120T exonic ENSG00000127533.4 . nonsynonymous SNV ENSG00000127533.4:ENST00000248076.4:exon2:c.G358A:p.A120T 19p13.11 C3N-00315 0.2710 0.5896 0.2916 0.2846 0.2263 0.2145 0.2929 0.2852 rs773902 0.19 T T B B U P L T N 0.056 T T . 0.043 . . 0.154 T T T T T T 0.601 7.524 0.981 N N -0.812 0.637 -0.926 0.585 1.000 0.526 0.542 0.600 0.584 . 4.300 0.917 1.347 -0.249 -0.901 0.003 0.001 0.001 970 GPCR,_rhodopsin-like,_7TM F2RL3;SIN3B Colon_Transverse;Cells_Cultured_fibroblasts;Esophagus_Mucosa;Adipose_Subcutaneous;Skin_Sun_Exposed_Lower_leg ID=COSV50185225;OCCURENCE=7(large_intestine),1(thyroid) F2RL3 207 0 165 9 0.0517241379310345 TRUE TRUE +ENSG00000160321.15 . BCM GRCh38.p13 chr19 21988830 21988830 + A A G Missense_Mutation SNP ENST00000397126.9 exon2 c.T83C p.L28S exonic ENSG00000160321.15 . nonsynonymous SNV ENSG00000160321.15:ENST00000397126.9:exon2:c.T83C:p.L28S 19p12 C3N-00315 . . . . . . . . . 8.19 D D D D . N H T D 0.650 T T T 0.056 0.814 0.067 0.019 T T T T D D 2.178 20.700 0.983 N N -0.234 1.783 -0.472 1.247 0.000 0.554 0.588 0.574 0.621 . 1.320 1.320 1.792 0.706 0.546 0.058 0.006 0.017 988 Krueppel-associated_box . . . ZNF208 206 0 183 23 0.111650485436893 NA TRUE +ENSG00000128000.16 . BCM GRCh38.p13 chr19 40035485 40035485 + G G C Nonsense_Mutation SNP ENST00000434248.6 exon5 c.C1374G p.Y458X exonic ENSG00000128000.16 . stopgain ENSG00000128000.16:ENST00000434248.6:exon5:c.C1374G:p.Y458X 19q13.2 C3N-00315 . . . . . . . . . 1.5 . . . . . D . . . 0.043 . . . . . . . . . T T . . 2.474 22.300 0.956 N N -0.615 0.961 -1.101 0.374 0.037 0.651 0.654 0.651 0.655 . 2.200 -4.400 -6.362 -1.046 -1.421 0.000 0.000 0.001 784 Zinc_finger_C2H2-type . . . ZNF780B 217 0 206 28 0.11965811965812 NA TRUE +ENSG00000129455.15 . BCM GRCh38.p13 chr19 51000029 51000029 + C C T Missense_Mutation SNP ENST00000600767.5 exon5 c.G460A p.V154I exonic ENSG00000129455.15 . nonsynonymous SNV ENSG00000129455.15:ENST00000600767.5:exon5:c.G460A:p.V154I 19q13.41 C3N-00315 0.0464 0.1052 0.0308 0 0.0370 0.0536 0.0629 0.0178 rs16988799 2.19 T T B B N D N D N 0.112 T T . 0.213 . . 0.219 T T T T T T 0.692 8.381 0.708 N N -0.883 0.542 -0.730 0.857 1.000 0.615 0.547 0.659 0.613 . 5.020 1.640 0.744 -0.145 -0.114 0.323 0.844 0.676 917 Serine_proteases,_trypsin_domain KLK8 Esophagus_Mucosa;Adipose_Visceral_Omentum;Skin_Sun_Exposed_Lower_leg . KLK8 75 0 58 5 0.0793650793650794 TRUE NA +ENSG00000126001.16 . BCM GRCh38.p13 chr20 35476502 35476502 + A A T Missense_Mutation SNP ENST00000397527.6 exon16 c.A1770T p.E590D exonic ENSG00000126001.16 . nonsynonymous SNV ENSG00000126001.16:ENST00000397527.6:exon16:c.A1770T:p.E590D 20q11.22 C3N-00315 . . . . . . . . . 9.20 D D D D D N M T D 0.354 T T T 0.179 0.214 0.499 0.467 T T T T D T 2.482 22.400 0.997 D N -0.566 1.050 -0.643 0.982 0.017 0.707 0.725 0.651 0.714 . 4.660 -4.520 0.147 -0.612 -0.704 0.878 0.994 0.990 528 . . . . CEP250 167 0 119 47 0.283132530120482 TRUE TRUE +ENSG00000124177.15 . BCM GRCh38.p13 chr20 41421867 41421867 + T T A Nonsense_Mutation SNP ENST00000373233.8 exon31 c.A4768T p.K1590X exonic ENSG00000124177.15 . stopgain ENSG00000124177.15:ENST00000373233.8:exon31:c.A4768T:p.K1590X 20q12 C3N-00315 . . . . . . . . . 5.6 . . . . D A . . . 0.451 . . . . . . . . . D D . . 8.061 40 0.997 D N 0.912 11.365 0.810 10.424 1.000 0.707 0.702 0.725 0.636 . 5.890 5.890 6.416 1.138 0.665 1.000 1.000 0.998 925 . . . . CHD6 109 0 94 40 0.298507462686567 TRUE TRUE +ENSG00000124205.18 . BCM GRCh38.p13 chr20 59321153 59321153 + G G A Missense_Mutation SNP ENST00000337938.7 exon3 c.G502A p.A168T exonic ENSG00000124205.18 . nonsynonymous SNV ENSG00000124205.18:ENST00000337938.7:exon3:c.G502A:p.A168T 20q13.32 C3N-00315 8.237e-06 0 0 0 0 1.498e-05 0 0 rs748374290 2.20 T T B B N N L D N 0.438 T T D 0.085 0.273 0.885 0.131 T T T T T T 1.489 15.660 0.940 N N -0.616 0.960 -0.594 1.055 0.000 0.554 0.590 0.602 0.564 . 4.750 1.350 0.929 1.176 0.676 0.670 0.774 0.317 994 Endothelin-like_toxin;Endothelin-like_toxin,_conserved_site . . ID=COSV61108533;OCCURENCE=1(liver),1(endometrium) EDN3 451 0 389 136 0.259047619047619 TRUE TRUE +ENSG00000154734.15 . BCM GRCh38.p13 chr21 26837919 26837919 + A A T Missense_Mutation SNP ENST00000284984.8 exon9 c.T2564A p.F855Y exonic ENSG00000154734.15 . nonsynonymous SNV ENSG00000154734.15:ENST00000284984.8:exon9:c.T2564A:p.F855Y 21q21.3 C3N-00315 . . . . . . . . . 2.19 T T B B . N N T N 0.209 T T D 0.178 0.498 0.697 0.502 T T T T T T 2.170 20.600 0.872 D N -0.213 1.840 -0.078 2.110 1.000 0.722 0.574 0.576 0.735 . 5.450 5.450 1.907 1.312 0.691 0.708 0.781 0.973 834 . . . . ADAMTS1 274 0 217 34 0.135458167330677 TRUE TRUE +ENSG00000093072.18 . BCM GRCh38.p13 chr22 17189948 17189948 + A A - Frame_Shift_Del DEL ENST00000399837.8 exon6 c.966delT p.F322Lfs*20 exonic ENSG00000093072.18 . frameshift deletion ENSG00000093072.18:ENST00000399837.8:exon6:c.966delT:p.F322Lfs*20 22q11.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADA2 123 0 89 10 0.101010101010101 NA TRUE +ENSG00000128342.5 . BCM GRCh38.p13 chr22 30243927 30243927 + G G C Nonsense_Mutation SNP ENST00000249075.4 exon3 c.C333G p.Y111X exonic ENSG00000128342.5 . stopgain ENSG00000128342.5:ENST00000249075.4:exon3:c.C333G:p.Y111X 22q12.2 C3N-00315 . . . . . . . . . 6.9 . . . . . D . . D 0.409 T T . 0.227 0.176 0.720 . . . D D D . 5.791 35 0.990 D N 0.249 3.526 0.017 2.420 1.000 0.615 0.660 0.659 0.586 . 4.880 3.870 3.249 0.224 -0.127 1.000 0.023 0.004 350 . . . . LIF 431 0 307 51 0.142458100558659 TRUE TRUE +ENSG00000099992.16 . BCM GRCh38.p13 chr22 30299458 30299458 + G G C Missense_Mutation SNP ENST00000434291.5 exon1 c.C25G p.P9A exonic ENSG00000099992.16;ENSG00000248751.6 . nonsynonymous SNV ENSG00000248751.6:ENST00000434291.5:exon1:c.C25G:p.P9A,ENSG00000099992.16:ENST00000215790.12:exon3:c.C403G:p.P135A 22q12.2 C3N-00315 . . . . . . . . . 5.20 D T B B N D L T D 0.253 T T T 0.060 0.536 0.072 0.774 T T T T T D 2.000 19.260 0.987 D N 0.016 2.567 0.161 2.997 1.000 0.707 0.725 0.659 0.636 . 5.330 4.240 2.086 1.176 0.676 1.000 1.000 0.967 315 Rab-GTPase-TBC_domain . . . TBC1D10A 131 0 85 17 0.166666666666667 TRUE TRUE +ENSG00000196576.15 . BCM GRCh38.p13 chr22 50286034 50286034 + C C G Missense_Mutation SNP ENST00000359337.9 exon10 c.G1942C p.E648Q exonic ENSG00000196576.15 . nonsynonymous SNV ENSG00000196576.15:ENST00000359337.9:exon10:c.G1942C:p.E648Q 22q13.33 C3N-00315 . . . . . . . . . 2.20 T T B B N N M T N 0.220 T T T 0.034 0.305 0.332 0.337 T T T T T T 1.696 17.000 0.989 D N -0.239 1.770 -0.164 1.874 0.998 0.672 0.702 0.723 0.711 . 4.260 3.220 2.039 1.026 0.599 0.970 0.998 0.703 616 PSI_domain . . . PLXNB2 276 1 172 19 0.0994764397905759 TRUE TRUE +ENSG00000101825.8 . BCM GRCh38.p13 chrX 3321504 3321504 + C C T Missense_Mutation SNP ENST00000217939.7 exon5 c.G4181A p.G1394D exonic ENSG00000101825.8 . nonsynonymous SNV ENSG00000101825.8:ENST00000217939.7:exon5:c.G4181A:p.G1394D Xp22.33 C3N-00315 0.6843 0.7802 0.7090 0.7763 0.6601 0.6548 0.6566 0.6706 rs1726199 0.18 T T B B N P N T N 0.023 T T . 0.079 . . 0.080 T T T T T T -0.158 0.629 0.094 N . . . . . 0.013 . . . . . 2.920 1.690 -0.005 -1.440 -0.108 0.002 0.000 0.071 1000 . XG;MXRA5 Testis;Spleen;Artery_Tibial;Artery_Aorta;Thyroid;Liver;Nerve_Tibial;Heart_Atrial_Appendage;Artery_Coronary;Lung ID=COSV54247114;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(lung) MXRA5 89 0 64 4 0.0588235294117647 NA TRUE +ENSG00000133131.15 . BCM GRCh38.p13 chrX 106978159 106978159 + T T C Missense_Mutation SNP ENST00000355610.9 exon8 c.A977G p.N326S exonic ENSG00000133131.15 . nonsynonymous SNV ENSG00000133131.15:ENST00000355610.9:exon8:c.A977G:p.N326S Xq22.3 C3N-00315 0.0159 0.0025 0.0059 0.0002 0.0088 0.0255 0.0079 0.0048 rs41304048 2.18 T T B B N N L T D 0.066 T T . 0.060 . . 0.281 T T T T T T 1.281 14.250 0.884 D . . . . . 0.006 . . . . . 4.990 1.230 2.300 0.207 -0.163 1.000 0.986 0.997 183 . . . . MORC4 72 0 93 6 0.0606060606060606 TRUE NA +ENSG00000204740.11 . BCM GRCh38.p13 chr10 19257683 19257683 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000204740.11 ENST00000454679.7:exon19:c.2992-1G>T . . 10p12.31 C3N-00315 . . . . . . . . . 3.4 . . . . . D . . . . . . . . . . . . . D T . . 4.129 28.000 0.981 D . 0.954 12.521 0.734 8.430 0.545 0.061 0.063 0.063 0.057 0.935 4.870 4.870 6.618 1.149 -0.536 1.000 0.014 0.002 926 . . . . MALRD1 136 1 116 22 0.159420289855072 TRUE TRUE +ENSG00000156502.14 . BCM GRCh38.p13 chr10 69198554 69198554 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000156502.14 ENST00000359655.9:exon9:c.1204+2T>C . . 10q22.1 C3N-00315 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.854 33 0.989 D . 0.981 13.325 0.819 10.715 1.000 0.164 0.157 0.232 0.110 0.886 5.720 4.580 6.189 1.138 0.609 1.000 1.000 0.974 745 . . . . SUPV3L1 158 0 154 31 0.167567567567568 TRUE TRUE +ENSG00000174502.19 . BCM GRCh38.p13 chr1 205929898 205929898 + G G T Silent SNP ENST00000367135.8 exon6 c.C711A p.I237I exonic ENSG00000174502.19 . synonymous SNV ENSG00000174502.19:ENST00000367135.8:exon6:c.C711A:p.I237I 1q32.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC26A9 44 0 24 10 0.294117647058824 TRUE TRUE +ENSG00000158435.8 . BCM GRCh38.p13 chr2 101253399 101253399 + C C T Silent SNP ENST00000289382.8 exon1 c.C435T p.F145F exonic ENSG00000158435.8 . synonymous SNV ENSG00000158435.8:ENST00000289382.8:exon1:c.C435T:p.F145F 2q11.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNOT11 118 0 98 24 0.19672131147541 TRUE TRUE +ENSG00000003393.15 . BCM GRCh38.p13 chr2 201724339 201724339 + T T A Silent SNP ENST00000264276.11 exon21 c.A3468T p.V1156V exonic ENSG00000003393.15 . synonymous SNV ENSG00000003393.15:ENST00000264276.11:exon21:c.A3468T:p.V1156V 2q33.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALS2 228 0 190 38 0.166666666666667 TRUE TRUE +ENSG00000160801.14 . BCM GRCh38.p13 chr3 46898180 46898180 + G G A Silent SNP ENST00000449590.6 exon7 c.G531A p.E177E exonic ENSG00000160801.14 . synonymous SNV ENSG00000160801.14:ENST00000449590.6:exon7:c.G531A:p.E177E 3p21.31 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTH1R 419 0 261 41 0.135761589403974 TRUE NA +ENSG00000178804.7 . BCM GRCh38.p13 chr3 129547425 129547425 + G G C Silent SNP ENST00000324382.6 exon2 c.G123C p.P41P exonic ENSG00000178804.7 . synonymous SNV ENSG00000178804.7:ENST00000324382.6:exon2:c.G123C:p.P41P 3q22.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . H1-8 83 0 90 13 0.12621359223301 TRUE TRUE +ENSG00000174963.17 . BCM GRCh38.p13 chr3 147396090 147396090 + G G A Silent SNP ENST00000383075.7 exon3 c.C450T p.T150T exonic ENSG00000174963.17 . synonymous SNV ENSG00000174963.17:ENST00000383075.7:exon3:c.C450T:p.T150T 3q24 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZIC4 396 0 326 55 0.144356955380577 TRUE TRUE +ENSG00000137601.17 . BCM GRCh38.p13 chr4 169400259 169400259 + A A G Silent SNP ENST00000439128.6 exon33 c.T3729C p.L1243L exonic ENSG00000137601.17 . synonymous SNV ENSG00000137601.17:ENST00000439128.6:exon33:c.T3729C:p.L1243L 4q33 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEK1 74 0 56 6 0.0967741935483871 TRUE TRUE +ENSG00000146414.16 . BCM GRCh38.p13 chr6 145913508 145913508 + G G A Silent SNP ENST00000275233.12 exon24 c.C4296T p.C1432C exonic ENSG00000146414.16 . synonymous SNV ENSG00000146414.16:ENST00000275233.12:exon24:c.C4296T:p.C1432C 6q24.3 C3N-00315 0.7804 0.9330 0.8908 0.8174 0.6620 0.7450 0.7685 0.7846 rs9497426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHPRH 171 0 184 11 0.0564102564102564 TRUE NA +ENSG00000118492.17 . BCM GRCh38.p13 chr6 146785705 146785705 + A A G Silent SNP ENST00000397944.8 exon32 c.A4308G p.K1436K exonic ENSG00000118492.17 . synonymous SNV ENSG00000118492.17:ENST00000397944.8:exon32:c.A4308G:p.K1436K 6q24.3 C3N-00315 0.5561 0.5423 0.6951 0.4084 0.7450 0.5339 0.5744 0.5497 rs259391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58846871;OCCURENCE=1(liver),1(large_intestine),3(haematopoietic_and_lymphoid_tissue),1(lung),1(thyroid) ADGB 94 0 91 6 0.0618556701030928 TRUE NA +ENSG00000122507.21 . BCM GRCh38.p13 chr7 33146312 33146312 + T T C Silent SNP ENST00000242067.11 exon2 c.T60C p.F20F exonic ENSG00000122507.21 . synonymous SNV ENSG00000122507.21:ENST00000242067.11:exon2:c.T60C:p.F20F 7p14.3 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BBS9 239 0 228 24 0.0952380952380952 TRUE TRUE +ENSG00000158683.8 . BCM GRCh38.p13 chr7 47835154 47835154 + G G C Silent SNP ENST00000289672.6 exon38 c.C6033G p.S2011S exonic ENSG00000158683.8 . synonymous SNV ENSG00000158683.8:ENST00000289672.6:exon38:c.C6033G:p.S2011S 7p12.3 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKD1L1 70 0 52 11 0.174603174603175 TRUE TRUE +ENSG00000160963.14 . BCM GRCh38.p13 chr7 101545453 101545453 + C C T Silent SNP ENST00000313669.12 exon7 c.C819T p.G273G exonic ENSG00000160963.14 . synonymous SNV ENSG00000160963.14:ENST00000313669.12:exon7:c.C819T:p.G273G 7q22.1 C3N-00315 5.572e-05 0 9.414e-05 0 0.0002 5.019e-05 0 6.591e-05 rs372349100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58129780;OCCURENCE=2(large_intestine) COL26A1 124 0 99 11 0.1 TRUE NA +ENSG00000156687.11 . BCM GRCh38.p13 chr8 35726174 35726174 + T T C Silent SNP ENST00000404895.7 exon10 c.T1326C p.S442S exonic ENSG00000156687.11 . synonymous SNV ENSG00000156687.11:ENST00000404895.7:exon10:c.T1326C:p.S442S 8p12 C3N-00315 0.0919 0.4333 0.2151 0.0882 0.0352 0.0173 0.0716 0.1174 rs6983275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54819653;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(thyroid) UNC5D 93 0 59 4 0.0634920634920635 TRUE TRUE +ENSG00000040341.18 . BCM GRCh38.p13 chr8 73582804 73582804 + A A T Silent SNP ENST00000524300.6 exon12 c.T1188A p.G396G exonic ENSG00000040341.18 . synonymous SNV ENSG00000040341.18:ENST00000524300.6:exon12:c.T1188A:p.G396G 8q21.11 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAU2 149 0 136 17 0.111111111111111 TRUE TRUE +ENSG00000160293.17 . BCM GRCh38.p13 chr9 133797806 133797806 + A A G Silent SNP ENST00000371850.8 exon10 c.T840C p.L280L exonic ENSG00000160293.17 . synonymous SNV ENSG00000160293.17:ENST00000371850.8:exon10:c.T840C:p.L280L 9q34.2 C3N-00315 0.2253 0.4641 0.2480 0.0790 0.2231 0.2019 0.2021 0.2323 rs7865299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64081284;OCCURENCE=2(breast) VAV2 174 0 99 6 0.0571428571428571 TRUE NA +ENSG00000120054.12 . BCM GRCh38.p13 chr10 100075935 100075935 + G G A Silent SNP ENST00000370418.8 exon2 c.C396T p.D132D exonic ENSG00000120054.12 . synonymous SNV ENSG00000120054.12:ENST00000370418.8:exon2:c.C396T:p.D132D 10q24.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPN1 323 0 276 20 0.0675675675675676 TRUE NA +ENSG00000150760.12 . BCM GRCh38.p13 chr10 127418394 127418394 + T T C Silent SNP ENST00000280333.9 exon45 c.T4482C p.I1494I exonic ENSG00000150760.12 . synonymous SNV ENSG00000150760.12:ENST00000280333.9:exon45:c.T4482C:p.I1494I 10q26.2 C3N-00315 0.3232 0.2608 0.5659 0.4642 0.3131 0.2763 0.3213 0.3061 rs2229600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54735567;OCCURENCE=4(large_intestine),1(lung) DOCK1 92 0 87 6 0.0645161290322581 TRUE TRUE +ENSG00000183020.14 . BCM GRCh38.p13 chr11 1008112 1008112 + G G T Silent SNP ENST00000448903.7 exon18 c.G2397T p.A799A exonic ENSG00000183020.14 . synonymous SNV ENSG00000183020.14:ENST00000448903.7:exon18:c.G2397T:p.A799A 11p15.5 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP2A2 116 1 72 15 0.172413793103448 TRUE NA +ENSG00000053918.18 . BCM GRCh38.p13 chr11 2847958 2847958 + C C T Silent SNP ENST00000155840.12 exon16 c.C1986T p.Y662Y exonic ENSG00000053918.18 . synonymous SNV ENSG00000053918.18:ENST00000155840.12:exon16:c.C1986T:p.Y662Y 11p15.4 C3N-00315 0.2607 0.0759 0.2044 0.0012 0.4646 0.3658 0.2180 0.1257 rs11601907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50126746;OCCURENCE=1(liver) KCNQ1 55 0 61 5 0.0757575757575758 TRUE TRUE +ENSG00000137747.16 . BCM GRCh38.p13 chr11 117913890 117913890 + G G A Silent SNP ENST00000445164.6 exon5 c.C696T p.D232D exonic ENSG00000137747.16 . synonymous SNV ENSG00000137747.16:ENST00000445164.6:exon5:c.C696T:p.D232D 11q23.3 C3N-00315 0.0005 0.0003 0 0 0 0.0009 0 0 rs200658665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMPRSS13 72 0 48 6 0.111111111111111 TRUE NA +ENSG00000139083.11 . BCM GRCh38.p13 chr12 11884548 11884548 + G G T Silent SNP ENST00000396373.9 exon6 c.G1113T p.V371V exonic ENSG00000139083.11 . synonymous SNV ENSG00000139083.11:ENST00000396373.9:exon6:c.G1113T:p.V371V 12p13.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ETV6 162 0 152 18 0.105882352941176 TRUE TRUE +ENSG00000061273.18 . BCM GRCh38.p13 chr12 47796261 47796261 + C C T Silent SNP ENST00000427332.6 exon8 c.G624A p.G208G exonic ENSG00000061273.18 . synonymous SNV ENSG00000061273.18:ENST00000427332.6:exon8:c.G624A:p.G208G 12q13.11 C3N-00315 0.2719 0.2305 0.1729 0.0149 0.3978 0.3224 0.2971 0.2166 rs11831883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDAC7 168 0 152 8 0.05 TRUE NA +ENSG00000102760.13 . BCM GRCh38.p13 chr13 41458436 41458436 + T T C Silent SNP ENST00000379359.4 exon2 c.T201C p.S67S exonic ENSG00000102760.13 . synonymous SNV ENSG00000102760.13:ENST00000379359.4:exon2:c.T201C:p.S67S 13q14.11 C3N-00315 0.5009 0.7399 0.6717 0.7143 0.4952 0.4461 0.4655 0.3458 rs7136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65058119;OCCURENCE=1(breast),6(large_intestine),1(haematopoietic_and_lymphoid_tissue) RGCC 145 0 124 7 0.0534351145038168 TRUE NA +ENSG00000126218.12 . BCM GRCh38.p13 chr13 113143864 113143864 + T T C Silent SNP ENST00000375559.8 exon6 c.T516C p.C172C exonic ENSG00000126218.12 . synonymous SNV ENSG00000126218.12:ENST00000375559.8:exon6:c.T516C:p.C172C 13q34 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F10 184 0 172 15 0.0802139037433155 TRUE TRUE +ENSG00000140479.17 . BCM GRCh38.p13 chr15 101384341 101384341 + C C T Silent SNP ENST00000611716.5 exon10 c.G1395A p.V465V exonic ENSG00000140479.17 . synonymous SNV ENSG00000140479.17:ENST00000611716.5:exon10:c.G1395A:p.V465V 15q26.3 C3N-00315 0.1362 0.08 0.1942 0.1996 0.0952 0.1120 0.1150 0.2109 rs1135911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59339332;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) PCSK6 117 0 104 6 0.0545454545454545 TRUE NA +ENSG00000204991.11 . BCM GRCh38.p13 chr16 89856208 89856208 + G G C Silent SNP ENST00000378247.8 exon7 c.G1074C p.P358P exonic ENSG00000204991.11 . synonymous SNV ENSG00000204991.11:ENST00000378247.8:exon7:c.G1074C:p.P358P 16q24.3 C3N-00315 0.0002 0.0004 0.0003 0 0 0.0003 0 0 rs140601253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPIRE2 113 0 89 6 0.0631578947368421 TRUE NA +ENSG00000131738.11 . BCM GRCh38.p13 chr17 41363884 41363884 + A A C Silent SNP ENST00000251646.8 exon7 c.T1167G p.P389P exonic ENSG00000131738.11 . synonymous SNV ENSG00000131738.11:ENST00000251646.8:exon7:c.T1167G:p.P389P 17q21.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT33B 97 0 87 13 0.13 TRUE TRUE +ENSG00000181523.13 . BCM GRCh38.p13 chr17 80217155 80217155 + G G A Silent SNP ENST00000326317.11 exon2 c.C126T p.N42N exonic ENSG00000181523.13 . synonymous SNV ENSG00000181523.13:ENST00000326317.11:exon2:c.C126T:p.N42N 17q25.3 C3N-00315 . . . . . . . . . 6.12 . T . . . D . D . 0.333 T T T 0.055 . 0.859 . . . D D D T 0.510 6.606 0.998 D N 0.417 4.450 0.422 4.521 1.000 0.745 0.732 0.723 0.728 . 4.420 4.420 3.211 1.176 0.676 1.000 0.821 0.254 830 . . . . SGSH 278 0 208 56 0.212121212121212 TRUE TRUE +ENSG00000196967.11 . BCM GRCh38.p13 chr19 37153344 37153344 + G G C Silent SNP ENST00000292841.10 exon5 c.C555G p.P185P exonic ENSG00000196967.11 . synonymous SNV ENSG00000196967.11:ENST00000292841.10:exon5:c.C555G:p.P185P 19q13.12 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF585A 150 0 128 11 0.079136690647482 TRUE TRUE +ENSG00000275395.6 . BCM GRCh38.p13 chr19 39915593 39915593 + C C T Silent SNP ENST00000616721.6 exon5 c.G2421A p.Q807Q exonic ENSG00000275395.6 . synonymous SNV ENSG00000275395.6:ENST00000616721.6:exon5:c.G2421A:p.Q807Q 19q13.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FCGBP 71 0 72 7 0.0886075949367089 TRUE TRUE +ENSG00000142405.22 . BCM GRCh38.p13 chr19 53810831 53810831 + G G A Silent SNP ENST00000324134.11 exon3 c.C828T p.S276S exonic ENSG00000142405.22 . synonymous SNV ENSG00000142405.22:ENST00000324134.11:exon3:c.C828T:p.S276S 19q13.42 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60753804;OCCURENCE=1(endometrium) NLRP12 238 0 206 31 0.130801687763713 TRUE TRUE +ENSG00000271303.2 . BCM GRCh38.p13 chr20 653147 653147 + G G T Silent SNP ENST00000381962.4 exon1 c.C39A p.G13G exonic ENSG00000271303.2 . synonymous SNV ENSG00000271303.2:ENST00000381962.4:exon1:c.C39A:p.G13G 20p13 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRXN1 16 0 43 16 0.271186440677966 TRUE NA +ENSG00000149633.12 . BCM GRCh38.p13 chr20 38213312 38213312 + C C T Silent SNP ENST00000279024.9 exon14 c.G3333A p.G1111G exonic ENSG00000149633.12 . synonymous SNV ENSG00000149633.12:ENST00000279024.9:exon14:c.G3333A:p.G1111G 20q11.23 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1755 186 0 169 16 0.0864864864864865 TRUE TRUE +ENSG00000167074.15 . BCM GRCh38.p13 chr22 41387655 41387655 + C C T Silent SNP ENST00000266304.9 exon2 c.C462T p.T154T exonic ENSG00000167074.15 . synonymous SNV ENSG00000167074.15:ENST00000266304.9:exon2:c.C462T:p.T154T 22q13.2 C3N-00315 0.2673 0.0542 0.6045 0.0639 0.2668 0.2428 0.2654 0.3549 rs11546403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56749118;OCCURENCE=1(lung) TEF 109 0 70 4 0.0540540540540541 NA TRUE +ENSG00000268104.3 . BCM GRCh38.p13 chrX 116437825 116437825 + T T A Silent SNP ENST00000598581.3 exon2 c.T84A p.G28G exonic ENSG00000268104.3 . synonymous SNV ENSG00000268104.3:ENST00000598581.3:exon2:c.T84A:p.G28G Xq23 C3N-00315 0.0671 0.0412 0.0227 0.0115 0.0402 0.0815 0.0713 0.1113 rs12720074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC6A14 72 0 80 5 0.0588235294117647 TRUE NA +ENSG00000102287.19 . BCM GRCh38.p13 chrX 151970273 151970273 + C C T Silent SNP ENST00000370328.4 exon2 c.G186A p.G62G exonic ENSG00000102287.19 . synonymous SNV ENSG00000102287.19:ENST00000370328.4:exon2:c.G186A:p.G62G Xq28 C3N-00315 0.0083 0.0016 0.0051 0 0.0060 0.0117 0.0190 0.0068 rs45468892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64819739;OCCURENCE=2(lung) GABRE 153 0 148 8 0.0512820512820513 TRUE TRUE +ENSG00000174348.14 . BCM GRCh38.p13 chr1 53069808 53069808 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000174348.14 ENST00000312553.10:c.-48C>T . . 1p32.3 C3N-00315 . . . . . . . . . 3.5 . . . . . A . . . 0.199 . . . . . . . . . D D . . 7.164 37 0.992 N N 0.084 2.823 -0.341 1.482 0.494 0.581 0.574 0.576 0.605 . 1.960 1.030 -1.379 -0.012 -0.262 0.000 0.014 0.008 365 . . . . PODN 148 0 105 34 0.244604316546763 TRUE TRUE +ENSG00000233502.1 . BCM GRCh38.p13 chr2 10083915 10083915 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000233502.1 . . . 2p25.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC104794.2 93 0 89 8 0.0824742268041237 TRUE NA +ENSG00000248049.7 . BCM GRCh38.p13 chr4 67701375 67701375 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000248049.7 . . . 4q13.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBA6-AS1 181 0 150 32 0.175824175824176 TRUE NA +ENSG00000253197.5 . BCM GRCh38.p13 chr8 92884889 92884889 + T T - RNA SNP NA NA NA NA ncRNA_intronic ENSG00000253197.5 . . . 8q22.1 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC117834.1 242 0 202 31 0.133047210300429 TRUE NA +ENSG00000182632.15 . BCM GRCh38.p13 chr10 42454286 42454286 + C C A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000182632.15 . . . 10q11.21 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCNYL2 194 0 185 33 0.151376146788991 TRUE NA +ENSG00000225830.14 . BCM GRCh38.p13 chr10 49516754 49516754 + C C T Intron SNP NA NA NA NA intronic ENSG00000225830.14 . . . 10q11.23 C3N-00315 . . . . . . . . . 0.14 T T . . . N . T N 0.131 T T T 0.032 0.461 0.014 0.208 . . T T T T 0.622 7.729 0.585 N N -1.075 0.330 -1.094 0.382 0.987 0.707 0.654 0.547 0.714 . 0.468 0.468 0.851 0.395 0.469 0.984 0.149 0.010 720 . . . . ERCC6 114 0 119 11 0.0846153846153846 TRUE TRUE +ENSG00000171811.14 . BCM GRCh38.p13 chr10 132810721 132810721 + G G A Intron SNP NA NA NA NA intronic ENSG00000171811.14 . . . 10q26.3 C3N-00315 0.2559 0.0716 0.3789 0.2487 0.0625 0.2440 0.2905 0.2757 rs12416624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54149826;OCCURENCE=2(oesophagus),1(lung) CFAP46 103 0 66 4 0.0571428571428571 TRUE NA +ENSG00000149571.12 . BCM GRCh38.p13 chr11 126440187 126440187 + A A T Intron SNP NA NA NA NA intronic ENSG00000149571.12 . . . 11q24.2 C3N-00315 0.5866 0.6581 0.6538 0.3387 0.6333 0.7094 0.5699 0.5050 rs878830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV69383644;OCCURENCE=14(upper_aerodigestive_tract) KIRREL3 146 0 121 9 0.0692307692307692 TRUE NA +ENSG00000258498.8 . BCM GRCh38.p13 chr14 101552651 101552651 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000258498.8 . . . 14q32.31 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIO3OS 112 0 68 17 0.2 TRUE NA +ENSG00000204662.2 . BCM GRCh38.p13 chr20 23550636 23550636 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000204662.2 . . . 20p11.21 C3N-00315 . . . . . . . . rs930939498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CST9LP1 32 0 24 8 0.25 TRUE NA +ENSG00000163125.15 . BCM GRCh38.p13 chr1 150472615 150472616 + CA CA GT Unknown MNP ENST00000369068.4 exon11 c.3667_3668delinsGT p.H1223V exonic ENSG00000163125.15 . nonframeshift substitution ENSG00000163125.15:ENST00000369068.4:exon11:c.3667_3668delinsGT:p.H1223V 1q21.2 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPRD2 129 0 71 22 0.236559139784946 TRUE TRUE +ENSG00000174145.8 . BCM GRCh38.p13 chr4 37445627 37445629 + GCT GCT TTA Unknown MNP ENST00000309447.6 exon7 c.3639_3641delinsTTA p.E1213_L1214delinsDY exonic ENSG00000174145.8 . nonframeshift substitution ENSG00000174145.8:ENST00000309447.6:exon7:c.3639_3641delinsTTA:p.E1213_L1214delinsDY 4p14 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NWD2 223 0 175 19 0.0979381443298969 TRUE NA +ENSG00000109323.11 . BCM GRCh38.p13 chr4 102657719 102657721 + CCA CCA ATC Unknown MNP ENST00000647097.2 exon12 c.1665_1667delinsGAT p.Y555_Y879del exonic ENSG00000109323.11 . stopgain ENSG00000109323.11:ENST00000647097.2:exon12:c.1665_1667delinsGAT:p.Y555_Y879del 4q24 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MANBA 262 0 230 27 0.105058365758755 TRUE NA +ENSG00000107290.14 . BCM GRCh38.p13 chr9 132269655 132269656 + TT TT CA Unknown MNP ENST00000224140.6 exon25 c.7246_7247delinsTG p.K2416W exonic ENSG00000107290.14 . nonframeshift substitution ENSG00000107290.14:ENST00000224140.6:exon25:c.7246_7247delinsTG:p.K2416W 9q34.13 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETX 403 0 282 49 0.148036253776435 TRUE NA +ENSG00000250423.2 . BCM GRCh38.p13 chrX 119088479 119088480 + GG GG CC Unknown MNP ENST00000402510.2 exon11 c.2750_2751delinsGG p.P917R exonic ENSG00000250423.2 . nonframeshift substitution ENSG00000250423.2:ENST00000402510.2:exon11:c.2750_2751delinsGG:p.P917R Xq24 C3N-00315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1210 97 1 75 13 0.147727272727273 TRUE TRUE +ENSG00000142611.17 . BCM GRCh38.p13 chr1 3186311 3186311 + C C T Missense_Mutation SNP ENST00000270722.10 exon2 c.C224T p.P75L exonic ENSG00000142611.17 . nonsynonymous SNV ENSG00000142611.17:ENST00000270722.10:exon2:c.C224T:p.P75L 1p36.32 C3N-00317 . . . . . . . . . 14.20 D T D D U D M T D 0.837 T T D 0.461 0.420 0.625 1.133 D T D D D D 3.750 25.600 0.999 D D 0.743 7.760 0.710 7.944 1.000 0.517 0.547 0.479 0.563 . 5.290 5.290 7.433 1.026 0.599 1.000 0.943 0.313 983 . . . . PRDM16 85 0 54 18 0.25 TRUE TRUE +ENSG00000127463.15 . BCM GRCh38.p13 chr1 19235228 19235228 + C C G Missense_Mutation SNP ENST00000477853.6 exon13 c.G1334C p.R445P exonic ENSG00000127463.15 . nonsynonymous SNV ENSG00000127463.15:ENST00000477853.6:exon13:c.G1334C:p.R445P 1p36.13 C3N-00317 . . . . . . . . . 15.20 D D D D D D M T D 0.994 T T D 0.664 0.611 0.951 1.225 T T D D D D 4.170 28.400 0.997 D D 0.797 8.722 0.777 9.479 1.000 0.719 0.725 0.723 0.714 . 5.910 5.910 7.354 1.026 0.599 1.000 0.599 0.892 769 . . . . EMC1 90 0 102 22 0.17741935483871 TRUE TRUE +ENSG00000180098.9 . BCM GRCh38.p13 chr1 28577543 28577543 + C C A Missense_Mutation SNP ENST00000373830.4 exon9 c.C771A p.F257L exonic ENSG00000180098.9 . nonsynonymous SNV ENSG00000180098.9:ENST00000373830.4:exon9:c.C771A:p.F257L 1p35.3 C3N-00317 . . . . . . . . . 9.20 T T D B D D M T N 0.590 T T D 0.148 0.324 0.068 1.111 T T T T D D 3.160 23.800 0.998 D D 0.404 4.367 0.473 4.920 1.000 0.646 0.696 0.607 0.711 . 5.840 5.840 2.694 0.129 0.547 1.000 0.999 0.994 518 . . . . TRNAU1AP 138 0 138 36 0.206896551724138 TRUE NA +ENSG00000162402.14 . BCM GRCh38.p13 chr1 55094031 55094031 + G G T Missense_Mutation SNP ENST00000294383.7 exon52 c.C6260A p.P2087Q exonic ENSG00000162402.14 . nonsynonymous SNV ENSG00000162402.14:ENST00000294383.7:exon52:c.C6260A:p.P2087Q 1p32.3 C3N-00317 . . . . . . . . . 8.18 D D . . D D N T N 0.529 T T T 0.185 . 0.082 0.690 T T T T D D 3.319 24.200 0.989 D D 0.446 4.640 0.536 5.500 1.000 0.732 0.725 0.744 0.714 . 5.520 5.520 9.339 1.176 0.676 1.000 0.983 0.971 912 . . . . USP24 135 0 129 30 0.188679245283019 TRUE TRUE +ENSG00000021852.13 . BCM GRCh38.p13 chr1 56965927 56965927 + C C A Missense_Mutation SNP ENST00000371237.9 exon1 c.G22T p.A8S exonic ENSG00000021852.13 . nonsynonymous SNV ENSG00000021852.13:ENST00000371237.9:exon1:c.G22T:p.A8S 1p32.2 C3N-00317 . . . . . . . . . 0.15 T T . . N N . T N 0.277 T T T 0.011 0.262 0.130 0.037 T . T T T . -0.082 0.902 0.917 N N -1.018 0.385 -1.029 0.453 1.000 0.487 0.590 0.574 0.564 . 5.240 1.090 -0.177 1.026 0.549 0.000 0.001 0.017 875 . . . . C8B 299 0 325 64 0.16452442159383 TRUE TRUE +ENSG00000160838.14 . BCM GRCh38.p13 chr1 156932926 156932926 + A A T Missense_Mutation SNP ENST00000337428.8 exon15 c.A1637T p.K546M exonic ENSG00000160838.14 . nonsynonymous SNV ENSG00000160838.14:ENST00000337428.8:exon15:c.A1637T:p.K546M 1q23.1 C3N-00317 3.271e-05 0 0 0 0 0 0 0.0002 rs746573089 10.20 D D D D D D M T N 0.274 T T T 0.284 0.390 0.490 0.798 T T T T D T 3.671 25.300 0.994 D D 0.305 3.806 0.265 3.521 1.000 0.557 0.547 0.537 0.297 . 4.960 4.960 1.652 1.312 0.756 0.829 0.999 0.918 442 . . . . LRRC71 132 0 124 26 0.173333333333333 TRUE NA +ENSG00000203710.11 . BCM GRCh38.p13 chr1 207578172 207578172 + A A C Missense_Mutation SNP ENST00000367049.8 exon29 c.A4905C p.K1635N exonic ENSG00000203710.11 . nonsynonymous SNV ENSG00000203710.11:ENST00000367049.8:exon29:c.A4905C:p.K1635N 1q32.2 C3N-00317 . . . . . . . . . 3.17 D D D P . N . T N 0.277 T T T 0.148 0.470 0.652 0.178 T . T T T T 1.564 16.140 0.992 N N -0.714 0.789 -0.941 0.565 0.000 0.706 0.710 0.574 0.542 . 2.800 -2.580 -1.096 0.320 -0.113 0.000 0.856 0.722 778 Sushi/SCR/CCP_domain . . . CR1 309 0 363 94 0.205689277899344 NA TRUE +ENSG00000196862.10 . BCM GRCh38.p13 chr2 107872279 107872279 + A A T Missense_Mutation SNP ENST00000408999.4 exon20 c.A4275T p.R1425S exonic ENSG00000196862.10 . nonsynonymous SNV ENSG00000196862.10:ENST00000408999.4:exon20:c.A4275T:p.R1425S 2q12.3 C3N-00317 . . . . . . . . . 8.19 D T D P . N M T D 0.620 T T T 0.242 0.675 0.255 . T T T T D D 3.716 25.500 0.996 D D 0.340 3.995 0.205 3.207 0.007 0.638 0.670 0.618 0.668 . 2.330 2.330 4.247 1.177 0.333 1.000 1.000 0.984 963 Ran_binding_domain . . . RGPD4 254 0 270 61 0.18429003021148 NA TRUE +ENSG00000115233.12 . BCM GRCh38.p13 chr2 161371281 161371281 + G G A Missense_Mutation SNP ENST00000409682.8 exon7 c.G421A p.V141M exonic ENSG00000115233.12 . nonsynonymous SNV ENSG00000115233.12:ENST00000409682.8:exon7:c.G421A:p.V141M 2q24.2 C3N-00317 . . . . . . . . . 18.20 D D D D D D M T D 0.707 D D D 0.569 0.602 0.939 2.631 T D D D D D 4.065 27.500 0.999 D D 1.047 15.457 1.001 18.895 1.000 0.737 0.725 0.733 0.714 . 5.840 5.840 10.003 1.176 0.618 1.000 1.000 1.000 681 JAB1/MPN/MOV34_metalloenzyme_domain;MPN_domain . . . PSMD14 130 0 140 24 0.146341463414634 TRUE TRUE +ENSG00000118997.14 . BCM GRCh38.p13 chr2 195777817 195777817 + C C T Missense_Mutation SNP ENST00000312428.11 exon59 c.G11047A p.V3683I exonic ENSG00000118997.14 . nonsynonymous SNV ENSG00000118997.14:ENST00000312428.11:exon59:c.G11047A:p.V3683I 2q32.3 C3N-00317 1.665e-05 0.0002 0 0 0 0 0 0 rs566838984 3.20 T T B B N D N T N 0.366 T T T 0.148 . 0.197 0.027 T T T T T T 1.866 18.220 0.921 D D -0.317 1.573 -0.117 1.998 0.699 0.487 0.574 0.547 0.564 . 4.980 4.980 4.388 1.026 0.599 1.000 0.998 0.990 935 Dynein_heavy_chain_domain . . . DNAH7 48 0 50 8 0.137931034482759 TRUE NA +ENSG00000173166.18 . BCM GRCh38.p13 chr2 203440734 203440734 + A A - Frame_Shift_Del DEL ENST00000319170.10 exon14 c.2456delT p.F819Sfs*44 exonic ENSG00000173166.18 . frameshift deletion ENSG00000173166.18:ENST00000319170.10:exon14:c.2456delT:p.F819Sfs*44 2q33.2 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAPH1 44 0 33 10 0.232558139534884 TRUE TRUE +ENSG00000171450.6 . BCM GRCh38.p13 chr2 218959941 218959941 + G G A Missense_Mutation SNP ENST00000302625.6 exon1 c.G121A p.A41T exonic ENSG00000171450.6 . nonsynonymous SNV ENSG00000171450.6:ENST00000302625.6:exon1:c.G121A:p.A41T 2q35 C3N-00317 . . . . . . . . . 6.20 D D B B N N L T N 0.159 T T D 0.257 0.491 0.702 . D T T T D T 2.720 22.900 0.998 D N -0.058 2.311 0.042 2.507 0.936 0.598 0.609 0.608 0.639 . 3.810 2.830 3.073 1.002 0.586 0.992 0.998 0.997 624 . . . . CDK5R2 82 0 62 17 0.215189873417722 TRUE TRUE +ENSG00000135919.13 . BCM GRCh38.p13 chr2 223982759 223982759 + C C T Missense_Mutation SNP ENST00000258405.9 exon6 c.G907A p.D303N exonic ENSG00000135919.13 . nonsynonymous SNV ENSG00000135919.13:ENST00000258405.9:exon6:c.G907A:p.D303N 2q36.1 C3N-00317 . . . . . . . . . 14.20 T T D D D D M T D 0.806 D D D 0.332 0.648 0.768 1.041 T D T T D D 3.818 25.900 0.999 D D 0.748 7.854 0.731 8.377 1.000 0.706 0.610 0.710 0.613 . 6.020 6.020 7.068 1.026 0.599 1.000 0.977 0.722 906 Serpin_domain . . . SERPINE2 117 0 110 19 0.147286821705426 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149920 10149921 + GC GC - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.597_598del p.R200Afs*55 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.597_598del:p.R200Afs*55 3p25.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 408 0 296 73 0.197831978319783 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52407207 52407207 + - NA A Frame_Shift_Ins NA ENST00000460680.6 exon7 c.546_547insT p.L183Sfs*10 exonic ENSG00000163930.10 . frameshift insertion ENSG00000163930.10:ENST00000460680.6:exon7:c.546_547insT:p.L183Sfs*10 3p21.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 NA NA NA NA NA NA NA +ENSG00000145287.10 . BCM GRCh38.p13 chr4 83105002 83105002 + C C G Missense_Mutation SNP ENST00000426923.2 exon3 c.G137C p.C46S exonic ENSG00000145287.10 . nonsynonymous SNV ENSG00000145287.10:ENST00000426923.2:exon3:c.G137C:p.C46S 4q21.22 C3N-00317 . . . . . . . . . 12.19 D D D D D D H . D 0.770 T T T 0.205 0.667 0.067 1.778 T D T T D D 3.038 23.500 0.964 D N 0.352 4.058 0.144 2.921 0.999 0.672 0.702 0.659 0.655 . 5.370 4.500 1.935 1.000 0.599 0.935 0.677 0.063 908 . . . . PLAC8 222 0 223 54 0.194945848375451 TRUE TRUE +ENSG00000073331.18 . BCM GRCh38.p13 chr4 112382422 112382422 + C C - Nonsense_Mutation SNP ENST00000650871.1 exon4 c.146delC p.L50* exonic ENSG00000073331.18 . stopgain ENSG00000073331.18:ENST00000650871.1:exon4:c.146delC:p.L50* 4q25 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALPK1 120 0 99 32 0.244274809160305 TRUE TRUE +ENSG00000112983.17 . BCM GRCh38.p13 chr5 138164728 138164728 + T T A Missense_Mutation SNP ENST00000254900.9 exon12 c.A1717T p.N573Y exonic ENSG00000112983.17 . nonsynonymous SNV ENSG00000112983.17:ENST00000254900.9:exon12:c.A1717T:p.N573Y 5q31.2 C3N-00317 . . . . . . . . . 3.20 D D B B N N N T N 0.135 T T T 0.044 0.228 0.102 0.221 T T T T T D 0.645 7.941 0.870 N N -1.102 0.304 -1.209 0.276 0.904 0.719 0.723 0.702 0.714 . 5.520 -7.670 -1.700 -0.736 -0.194 0.000 0.951 0.969 172 . . . . BRD8 282 0 286 66 0.1875 TRUE TRUE +ENSG00000175309.15 . BCM GRCh38.p13 chr5 178222366 178222366 + A A C Missense_Mutation SNP ENST00000308158.10 exon8 c.T916G p.Y306D exonic ENSG00000175309.15 . nonsynonymous SNV ENSG00000175309.15:ENST00000308158.10:exon8:c.T916G:p.Y306D 5q35.3 C3N-00317 . . . . . . . . . 20.20 D D D D D D H D D 0.891 D D D 0.928 0.771 0.967 0.604 D D D D D D 4.131 28.000 0.993 D D 0.943 12.226 0.845 11.590 1.000 0.672 0.702 0.702 0.711 . 5.340 5.340 9.159 1.219 0.649 1.000 0.978 0.910 952 . . . . PHYKPL 65 0 66 21 0.241379310344828 TRUE TRUE +ENSG00000197226.12 . BCM GRCh38.p13 chr5 179879689 179879689 + G G A Missense_Mutation SNP ENST00000356834.7 exon8 c.C1355T p.S452F exonic ENSG00000197226.12 . nonsynonymous SNV ENSG00000197226.12:ENST00000356834.7:exon8:c.C1355T:p.S452F 5q35.3 C3N-00317 . . . . . . . . . 8.19 D D P P N D M T N 0.782 T T D 0.108 0.172 0.506 0.549 T T T T D . 2.912 23.200 0.997 D D 0.399 4.340 0.342 3.969 0.996 0.707 0.702 0.723 0.714 . 4.690 4.690 5.370 1.164 0.660 1.000 0.905 0.440 912 . . . ID=COSV62281984;OCCURENCE=1(skin) TBC1D9B 268 0 320 42 0.116022099447514 TRUE TRUE +ENSG00000146247.14 . BCM GRCh38.p13 chr6 78954931 78954931 + T T G Missense_Mutation SNP ENST00000275034.5 exon35 c.A3936C p.R1312S exonic ENSG00000146247.14 . nonsynonymous SNV ENSG00000146247.14:ENST00000275034.5:exon35:c.A3936C:p.R1312S 6q14.1 C3N-00317 . . . . . . . . . 6.20 T T D P D D L T N 0.639 T T T 0.205 0.308 0.254 1.736 T T T T D D 3.098 23.600 0.989 D N 0.337 3.974 0.383 4.240 0.440 0.732 0.744 0.725 0.714 . 5.540 5.540 1.158 1.138 0.609 1.000 0.999 0.999 905 . . . . PHIP 68 0 51 15 0.227272727272727 TRUE TRUE +ENSG00000196569.12 . BCM GRCh38.p13 chr6 129353295 129353295 + C C T Missense_Mutation SNP ENST00000421865.2 exon32 c.C4655T p.A1552V exonic ENSG00000196569.12 . nonsynonymous SNV ENSG00000196569.12:ENST00000421865.2:exon32:c.C4655T:p.A1552V 6q22.33 C3N-00317 . . . . . . . . . 5.19 T . B B D D N T N 0.180 T T T 0.172 0.493 0.651 0.130 T T T T D D 2.301 21.600 0.986 D N -0.134 2.071 0.045 2.521 1.000 0.615 0.574 0.659 0.617 . 5.750 4.870 4.089 1.026 0.549 1.000 0.977 0.998 838 Laminin_EGF_domain . . . LAMA2 168 0 144 45 0.238095238095238 TRUE TRUE +ENSG00000130338.13 . BCM GRCh38.p13 chr6 158502490 158502490 + C C A Missense_Mutation SNP ENST00000367097.8 exon13 c.C2827A p.L943M exonic ENSG00000130338.13 . nonsynonymous SNV ENSG00000130338.13:ENST00000367097.8:exon13:c.C2827A:p.L943M 6q25.3 C3N-00317 . . . . . . . . . 11.20 D D D D D D M T N 0.636 T T D 0.302 0.330 0.461 0.837 T T T T D D 3.077 23.600 0.996 D N 0.561 5.545 0.508 5.235 0.952 0.646 0.546 0.645 0.636 . 4.490 4.490 1.722 0.940 0.596 0.962 0.999 0.998 693 . . . . TULP4 154 1 123 27 0.18 TRUE TRUE +ENSG00000158517.15 . BCM GRCh38.p13 chr7 74788661 74788661 + C C - Frame_Shift_Del DEL ENST00000289473.10 exon10 c.1008delC p.R337Afs*39 exonic ENSG00000158517.15 . frameshift deletion ENSG00000158517.15:ENST00000289473.10:exon10:c.1008delC:p.R337Afs*39 7q11.23 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCF1 203 0 316 48 0.131868131868132 NA TRUE +ENSG00000214415.4 . BCM GRCh38.p13 chr7 80462521 80462521 + A A T Missense_Mutation SNP ENST00000398291.4 exon6 c.T701A p.L234H exonic ENSG00000214415.4 . nonsynonymous SNV ENSG00000214415.4:ENST00000398291.4:exon6:c.T701A:p.L234H 7q21.11 C3N-00317 . . . . . . . . . 19.20 D D D D U D H D D 0.960 D D D 0.929 0.833 0.955 0.239 D D D D D D 4.294 29.500 0.980 D D 1.035 15.059 0.904 13.906 1.000 0.487 0.574 0.547 0.613 . 5.200 5.200 9.325 1.288 0.756 1.000 0.994 0.987 845 . . . . GNAT3 109 0 197 25 0.112612612612613 TRUE TRUE +ENSG00000146802.13 . BCM GRCh38.p13 chr7 112784413 112784413 + G G A Missense_Mutation SNP ENST00000312814.11 exon2 c.C413T p.S138F exonic ENSG00000146802.13 . nonsynonymous SNV ENSG00000146802.13:ENST00000312814.11:exon2:c.C413T:p.S138F 7q31.1 C3N-00317 . . . . . . . . . 6.18 D D B B N D N . N 0.458 T T T 0.251 0.328 0.216 0.192 T T T T D D 3.115 23.700 0.995 D . 0.213 3.363 0.377 4.202 1.000 0.706 0.710 0.659 0.714 . 6.060 6.060 10.003 1.176 0.676 1.000 0.720 0.783 793 . . . . TMEM168 96 0 165 9 0.0517241379310345 TRUE TRUE +ENSG00000154438.8 . BCM GRCh38.p13 chr7 117381029 117381029 + C C A Missense_Mutation SNP ENST00000284629.7 exon9 c.G927T p.R309S exonic ENSG00000154438.8 . nonsynonymous SNV ENSG00000154438.8:ENST00000284629.7:exon9:c.G927T:p.R309S 7q31.2 C3N-00317 . . . . . . . . . 3.20 T T B B N N L D N 0.314 T T D 0.155 0.381 0.706 0.066 T T T T T T 2.387 22.000 0.989 D N -0.288 1.644 -0.227 1.723 0.817 0.487 0.574 0.574 0.564 . 5.570 1.270 0.349 -0.235 0.599 0.965 0.969 0.996 462 Sterile_alpha_motif_domain . . ID=COSV104372636;OCCURENCE=1(thyroid) ASZ1 92 0 126 37 0.226993865030675 TRUE TRUE +ENSG00000164675.11 . BCM GRCh38.p13 chr7 123464988 123464988 + G G C Missense_Mutation SNP ENST00000324698.11 exon10 c.C1603G p.Q535E exonic ENSG00000164675.11 . nonsynonymous SNV ENSG00000164675.11:ENST00000324698.11:exon10:c.C1603G:p.Q535E 7q31.32 C3N-00317 8.257e-06 0 0 0 0 1.501e-05 0 0 rs745426564 4.20 T T B B N D M T N 0.279 T T T 0.032 0.436 0.412 0.027 T T T T T T 2.034 19.510 0.988 D D 0.134 3.025 0.262 3.503 0.868 0.554 0.574 0.618 0.564 . 5.410 5.410 2.747 1.166 0.665 1.000 0.987 0.855 570 . . . ID=COSV100227244;OCCURENCE=1(breast) IQUB 100 0 165 39 0.191176470588235 TRUE NA +ENSG00000132554.20 . BCM GRCh38.p13 chr8 99977926 99977926 + T T - Frame_Shift_Del DEL ENST00000360863.11 exon23 c.3510delA p.K1170Nfs*28 exonic ENSG00000132554.20 . frameshift deletion ENSG00000132554.20:ENST00000360863.11:exon23:c.3510delA:p.K1170Nfs*28 8q22.2 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS22 126 0 158 36 0.185567010309278 TRUE TRUE +ENSG00000066827.16 . BCM GRCh38.p13 chr8 134565340 134565340 + G G A Missense_Mutation SNP ENST00000377838.8 exon11 c.C2969T p.S990F exonic ENSG00000066827.16 . nonsynonymous SNV ENSG00000066827.16:ENST00000377838.8:exon11:c.C2969T:p.S990F 8q24.22 C3N-00317 . . . . . . . . . 11.20 D D D D N D L T D 0.792 T T T 0.309 0.599 0.473 0.895 T D T T D D 4.318 29.700 0.998 D D 0.679 6.834 0.668 7.190 1.000 0.638 0.522 0.653 0.655 . 4.740 4.740 7.265 1.176 0.676 1.000 1.000 0.995 982 Zinc_finger_C2H2-type . . . ZFAT 184 0 236 41 0.148014440433213 TRUE TRUE +ENSG00000010438.16 . BCM GRCh38.p13 chr9 33797977 33797977 + G G C Missense_Mutation SNP ENST00000361005.9 exon3 c.G520C p.A174P exonic ENSG00000010438.16 . nonsynonymous SNV ENSG00000010438.16:ENST00000361005.9:exon3:c.G520C:p.A174P 9p13.3 C3N-00317 . . . . . . . . . 19.20 D D D D D D M D D 0.756 D D D 0.844 0.850 0.939 1.002 T D D D D D 3.019 23.500 0.996 D D 0.394 4.308 0.207 3.218 1.000 0.537 0.627 0.608 0.530 . 3.620 3.620 6.940 0.795 0.305 1.000 0.002 0.022 354 Serine_proteases,_trypsin_domain . . . PRSS3 432 0 276 60 0.178571428571429 TRUE TRUE +ENSG00000130720.13 . BCM GRCh38.p13 chr9 130904305 130904305 + T T A Missense_Mutation SNP ENST00000372338.9 exon7 c.A1145T p.H382L exonic ENSG00000130720.13 . nonsynonymous SNV ENSG00000130720.13:ENST00000372338.9:exon7:c.A1145T:p.H382L 9q34.12 C3N-00317 . . . . . . . . . 18.20 D D D D D D M D D 0.929 D D D 0.964 0.851 0.889 0.625 T T D D D D 4.430 31 0.973 D D 0.768 8.182 0.718 8.095 1.000 0.696 0.588 0.723 0.613 . 4.960 4.960 7.971 1.066 0.580 1.000 1.000 0.978 693 Fibrinogen,_alpha/beta/gamma_chain,_C-terminal_globular_domain . . . FIBCD1 58 0 28 5 0.151515151515152 TRUE TRUE +ENSG00000107863.18 . BCM GRCh38.p13 chr10 24604338 24604338 + G G T Missense_Mutation SNP ENST00000396432.7 exon12 c.C2695A p.H899N exonic ENSG00000107863.18 . nonsynonymous SNV ENSG00000107863.18:ENST00000396432.7:exon12:c.C2695A:p.H899N 10p12.1 C3N-00317 . . . . . . . . . 6.18 D T P P N D . T N 0.549 T T T 0.065 . 0.358 0.813 T . T T D D 3.123 23.700 0.958 D D 0.184 3.234 0.293 3.676 1.000 0.651 0.602 0.602 0.684 . 4.610 4.610 6.129 1.176 0.676 1.000 0.987 0.964 963 . . . . ARHGAP21 97 1 96 20 0.172413793103448 TRUE TRUE +ENSG00000170324.21 . BCM GRCh38.p13 chr10 48171107 48171107 + C C T Missense_Mutation SNP ENST00000374201.8 exon26 c.G3325A p.V1109M exonic ENSG00000170324.21 . nonsynonymous SNV ENSG00000170324.21:ENST00000374201.8:exon26:c.G3325A:p.V1109M 10q11.22 C3N-00317 . . . . . . . . . 4.19 D T D P . N M T N 0.293 T T T 0.108 0.721 0.217 2.437 T T T T D T 2.194 20.800 0.990 N N -0.272 1.683 -0.487 1.222 0.000 0.554 0.588 0.574 0.564 . 3.340 0.181 0.114 0.100 0.522 0.059 0.456 0.914 982 PDZ_domain . . . FRMPD2 98 1 79 10 0.112359550561798 NA TRUE +ENSG00000095596.12 . BCM GRCh38.p13 chr10 93074495 93074495 + C C T Missense_Mutation SNP ENST00000224356.5 exon2 c.C377T p.S126F exonic ENSG00000095596.12 . nonsynonymous SNV ENSG00000095596.12:ENST00000224356.5:exon2:c.C377T:p.S126F 10q23.33 C3N-00317 . . . . . . . . . 11.20 D D B B D D L T N 0.907 T T D 0.444 0.516 0.827 2.017 T T D D D D 2.831 23.100 0.998 D D -0.098 2.181 0.070 2.617 1.000 0.789 0.607 0.768 0.568 . 4.930 4.020 3.106 0.962 0.524 1.000 1.000 0.995 778 . . . . CYP26A1 163 0 162 14 0.0795454545454545 TRUE TRUE +ENSG00000138119.17 . BCM GRCh38.p13 chr10 93351277 93351277 + T T A Missense_Mutation SNP ENST00000359263.9 exon35 c.A3841T p.I1281F exonic ENSG00000138119.17 . nonsynonymous SNV ENSG00000138119.17:ENST00000359263.9:exon35:c.A3841T:p.I1281F 10q23.33 C3N-00317 . . . . . . . . . 6.20 T T P P D D N D N 0.308 T T D 0.318 0.463 0.752 0.242 T T T T T D 3.108 23.600 0.892 D N -0.027 2.418 0.096 2.718 1.000 0.672 0.547 0.659 0.711 . 6.160 5.010 0.906 1.138 0.665 1.000 0.998 0.997 653 . . . . MYOF 76 0 86 16 0.156862745098039 TRUE TRUE +ENSG00000129158.11 . BCM GRCh38.p13 chr11 17788404 17788404 + C C A Missense_Mutation SNP ENST00000265965.10 exon11 c.G1058T p.C353F exonic ENSG00000129158.11 . nonsynonymous SNV ENSG00000129158.11:ENST00000265965.10:exon11:c.G1058T:p.C353F 11p15.1 C3N-00317 . . . . . . . . . 13.20 D T D D D D M D N 0.769 T T D 0.730 0.556 0.581 0.932 T T D D D T 3.744 25.600 0.987 D D 0.255 3.556 0.257 3.477 1.000 0.706 0.659 0.710 0.655 . 5.170 5.170 4.781 1.026 0.599 1.000 0.654 0.618 779 . . . . SERGEF 50 0 39 8 0.170212765957447 TRUE TRUE +ENSG00000166889.14 . BCM GRCh38.p13 chr11 59666867 59666867 + C C A Missense_Mutation SNP ENST00000300146.10 exon2 c.G113T p.G38V exonic ENSG00000166889.14 . nonsynonymous SNV ENSG00000166889.14:ENST00000300146.10:exon2:c.G113T:p.G38V 11q12.1 C3N-00317 . . . . . . . . . 15.19 D D P P . D M D D 0.901 D D D 0.914 0.928 0.875 1.097 T T D D D D 3.778 25.700 0.997 D D 0.386 4.260 0.411 4.436 1.000 0.707 0.581 0.576 0.714 . 5.620 4.710 5.877 1.026 0.599 1.000 0.999 0.993 759 . . . . PATL1 90 1 97 29 0.23015873015873 TRUE TRUE +ENSG00000149972.11 . BCM GRCh38.p13 chr11 100341104 100341104 + G G A Missense_Mutation SNP ENST00000524871.6 exon23 c.G2929A p.A977T exonic ENSG00000149972.11 . nonsynonymous SNV ENSG00000149972.11:ENST00000524871.6:exon23:c.G2929A:p.A977T 11q22.1 C3N-00317 . . . . . . . . . 7.20 D D B B D N L T N 0.523 T T D 0.256 0.307 0.673 0.087 T T T T D D 2.548 22.500 0.975 D N -0.380 1.427 -0.311 1.542 0.954 0.487 0.574 0.476 0.564 . 5.460 3.510 2.553 -0.214 -0.153 1.000 0.037 0.027 917 Fibronectin_type_III . . . CNTN5 111 0 104 26 0.2 TRUE TRUE +ENSG00000123384.14 . BCM GRCh38.p13 chr12 57187309 57187309 + A A G Missense_Mutation SNP ENST00000243077.8 exon42 c.A6884G p.D2295G exonic ENSG00000123384.14 . nonsynonymous SNV ENSG00000123384.14:ENST00000243077.8:exon42:c.A6884G:p.D2295G 12q13.3 C3N-00317 8.275e-06 0 0 0 0 0 0.0011 0 rs757071051 18.20 D D D D D D M D D 0.847 D D D 0.803 0.513 0.799 . T T D D D D 4.432 31 0.995 D D 0.630 6.243 0.556 5.708 1.000 0.672 0.588 0.702 0.700 . 4.390 4.390 9.238 1.312 0.756 1.000 0.990 0.977 338 . . . . LRP1 99 0 85 22 0.205607476635514 TRUE NA +ENSG00000075856.12 . BCM GRCh38.p13 chr12 108523499 108523499 + C C A Missense_Mutation SNP ENST00000546815.6 exon19 c.G2850T p.K950N exonic ENSG00000075856.12 . nonsynonymous SNV ENSG00000075856.12:ENST00000546815.6:exon19:c.G2850T:p.K950N 12q23.3 C3N-00317 . . . . . . . . . 7.20 D T D P N D M T N 0.255 T T T 0.085 0.425 0.361 0.691 T T T T D D 3.868 26.200 0.998 D N 0.481 4.892 0.518 5.324 1.000 0.707 0.702 0.702 0.714 . 5.650 5.650 1.560 1.026 0.599 1.000 1.000 0.994 880 LSM-interacting_domain . . . SART3 303 1 324 61 0.158441558441558 TRUE TRUE +ENSG00000173093.13 . BCM GRCh38.p13 chr12 110881132 110881132 + G G T Missense_Mutation SNP ENST00000308208.10 exon7 c.G689T p.R230L exonic ENSG00000173093.13 . nonsynonymous SNV ENSG00000173093.13:ENST00000308208.10:exon7:c.G689T:p.R230L 12q24.11 C3N-00317 . . . . . . . . . 12.20 D D D P D D M T D 0.877 T T D 0.190 0.364 0.130 0.338 T T D T D T 4.150 28.200 0.998 D D 0.588 5.801 0.555 5.706 0.989 0.554 0.574 0.602 0.613 . 4.610 4.610 6.288 0.203 -0.143 0.879 0.994 0.988 147 . . . . CCDC63 67 0 69 15 0.178571428571429 TRUE TRUE +ENSG00000133107.15 . BCM GRCh38.p13 chr13 37746185 37746185 + A A G Missense_Mutation SNP ENST00000379705.8 exon3 c.T649C p.F217L exonic ENSG00000133107.15 . nonsynonymous SNV ENSG00000133107.15:ENST00000379705.8:exon3:c.T649C:p.F217L 13q13.3 C3N-00317 . . . . . . . . . 12.20 T T D D D D N T N 0.894 T T D 0.414 0.562 0.798 . D T D D D D 3.568 24.900 0.995 D D 0.172 3.181 0.380 4.222 1.000 0.737 0.574 0.733 0.621 . 5.980 5.980 9.325 1.312 0.691 1.000 0.991 0.996 795 Transient_receptor_ion_channel_domain . . . TRPC4 298 0 313 63 0.167553191489362 TRUE TRUE +ENSG00000102531.16 . BCM GRCh38.p13 chr13 49175516 49175516 + T T - Nonsense_Mutation SNP ENST00000492622.6 exon13 c.1505delT p.L503* exonic ENSG00000102531.16 . stopgain ENSG00000102531.16:ENST00000492622.6:exon13:c.1505delT:p.L503* 13q14.2 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FNDC3A 101 0 69 22 0.241758241758242 TRUE TRUE +ENSG00000066427.24 . BCM GRCh38.p13 chr14 92106530 92106530 + T T A Missense_Mutation SNP ENST00000644486.2 exon1 c.A23T p.K8I exonic ENSG00000066427.24 . nonsynonymous SNV ENSG00000066427.24:ENST00000644486.2:exon1:c.A23T:p.K8I 14q32.12 C3N-00317 . . . . . . . . . 14.20 D D P P D D M T D 0.626 T T D 0.271 0.501 0.747 0.831 D D D T D D 5.187 33 0.991 D D 0.256 3.559 0.261 3.500 1.000 0.442 0.522 0.522 0.562 . 4.190 4.190 2.900 1.138 0.609 1.000 1.000 0.992 867 Josephin_domain . . . ATXN3 212 0 150 39 0.206349206349206 TRUE TRUE +ENSG00000166200.15 . BCM GRCh38.p13 chr15 49129491 49129491 + G G C Missense_Mutation SNP ENST00000388901.10 exon11 c.C1114G p.P372A exonic ENSG00000166200.15 . nonsynonymous SNV ENSG00000166200.15:ENST00000388901.10:exon11:c.C1114G:p.P372A 15q21.1 C3N-00317 . . . . . . . . . 9.20 T T B B D D L T D 0.614 T T T 0.253 0.554 0.487 1.506 D T D T D D 2.437 22.200 0.878 D D -0.075 2.254 0.132 2.870 1.000 0.732 0.744 0.744 0.728 . 5.050 5.050 9.883 1.176 0.676 1.000 1.000 1.000 521 Proteasome_component_(PCI)_domain . . . COPS2 36 0 51 9 0.15 TRUE TRUE +ENSG00000137834.15 . BCM GRCh38.p13 chr15 66703299 66703299 + G G - Frame_Shift_Del DEL ENST00000288840.10 exon1 c.41delG p.W14Cfs*50 exonic ENSG00000137834.15 . frameshift deletion ENSG00000137834.15:ENST00000288840.10:exon1:c.41delG:p.W14Cfs*50 15q22.31 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMAD6 71 0 61 18 0.227848101265823 TRUE TRUE +ENSG00000008710.20 . BCM GRCh38.p13 chr16 2110590 2110590 + C C G Missense_Mutation SNP ENST00000262304.9 exon15 c.G4577C p.R1526T exonic ENSG00000008710.20 . nonsynonymous SNV ENSG00000008710.20:ENST00000262304.9:exon15:c.G4577C:p.R1526T 16p13.3 C3N-00317 . . . . . . . . . 2.20 T T P B D N L T N 0.299 T T D 0.123 0.606 0.683 . T T T T T T -0.083 0.899 0.510 N N -0.981 0.425 -1.011 0.475 0.000 0.707 0.702 0.723 0.714 . 5.360 0.580 0.616 0.931 0.580 0.001 0.019 0.016 650 PKD/Chitinase_domain;Polycystin_cation_channel;PKD_domain . . . PKD1 234 0 166 76 0.31404958677686 NA TRUE +ENSG00000103154.9 . BCM GRCh38.p13 chr16 83994303 83994303 + C C A Missense_Mutation SNP ENST00000305202.8 exon7 c.C598A p.Q200K exonic ENSG00000103154.9 . nonsynonymous SNV ENSG00000103154.9:ENST00000305202.8:exon7:c.C598A:p.Q200K 16q23.3 C3N-00317 . . . . . . . . . 4.20 T T B B N D M T N 0.397 T T T 0.096 0.221 0.040 . T T T T T T 2.079 19.860 0.968 D D -0.123 2.103 -0.007 2.336 1.000 0.706 0.590 0.710 0.563 . 4.580 4.580 2.221 1.026 0.594 0.967 0.979 0.632 952 . . . . NECAB2 133 0 117 37 0.24025974025974 TRUE TRUE +ENSG00000198211.8 . BCM GRCh38.p13 chr16 89933542 89933542 + T T - Frame_Shift_Del DEL ENST00000315491.12 exon3 c.241delT p.F81Lfs*55 exonic ENSG00000198211.8;ENSG00000258947.7 . frameshift deletion ENSG00000258947.7:ENST00000315491.12:exon3:c.241delT:p.F81Lfs*55,ENSG00000198211.8:ENST00000556922.1:exon4:c.1282delT:p.F428Lfs*55 16q24.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092143.1 370 0 386 47 0.108545034642032 TRUE TRUE +ENSG00000129221.16 . BCM GRCh38.p13 chr17 6425461 6425461 + C C A Nonstop_Mutation SNP ENST00000381129.8 exon6 c.G1154T p.X385L exonic ENSG00000129221.16 . stoploss ENSG00000129221.16:ENST00000381129.8:exon6:c.G1154T:p.X385L 17p13.2 C3N-00317 . . . . . . . . . 0.4 . . . . . N . . . 0.262 . . . . . . . . . T T . . 0.408 5.514 0.453 N . 0.020 2.584 -0.420 1.336 0.000 0.078 0.061 0.084 0.063 0.048 3.220 -1.600 0.451 -0.203 -0.176 0.000 0.000 0.000 872 . . . . AIPL1 41 0 52 10 0.161290322580645 TRUE TRUE +ENSG00000170004.17 . BCM GRCh38.p13 chr17 7895025 7895025 + C C G Missense_Mutation SNP ENST00000330494.12 exon9 c.C1378G p.R460G exonic ENSG00000170004.17 . nonsynonymous SNV ENSG00000170004.17:ENST00000330494.12:exon9:c.C1378G:p.R460G 17p13.1 C3N-00317 . . . . . . . . . 15.20 D D D D D D L T D 0.836 T T D 0.371 0.472 0.835 1.501 D T D D D D 3.755 25.600 0.997 D D 0.514 5.147 0.515 5.297 1.000 0.706 0.702 0.710 0.714 . 5.110 4.090 2.737 1.026 0.599 1.000 0.981 0.860 401 Zinc_finger,_PHD-type;Zinc_finger,_PHD-finger . . . CHD3 251 0 274 64 0.189349112426035 TRUE TRUE +ENSG00000007202.15 . BCM GRCh38.p13 chr17 28633307 28633307 + T T G Missense_Mutation SNP ENST00000528896.7 exon19 c.A3560C p.D1187A exonic ENSG00000007202.15 . nonsynonymous SNV ENSG00000007202.15:ENST00000528896.7:exon19:c.A3560C:p.D1187A 17q11.2 C3N-00317 . . . . . . . . . 12.20 D D D P D D M T D 0.616 T T T 0.406 0.506 0.621 0.835 T T D T D D 4.382 31 0.996 D D 0.628 6.223 0.654 6.975 1.000 0.707 0.702 0.725 0.714 . 5.750 5.750 7.581 1.138 0.663 1.000 1.000 1.000 227 . . . . KIAA0100 149 0 152 35 0.18716577540107 TRUE TRUE +ENSG00000141314.13 . BCM GRCh38.p13 chr17 32298136 32298136 + G G C Missense_Mutation SNP ENST00000269051.9 exon6 c.G713C p.G238A exonic ENSG00000141314.13 . nonsynonymous SNV ENSG00000141314.13:ENST00000269051.9:exon6:c.G713C:p.G238A 17q11.2 C3N-00317 8.251e-06 0 0 0 0 0 0 6.085e-05 rs747341218 15.20 T D D D D D M T D 0.965 T T D 0.695 0.901 0.853 0.917 D T D D D D 3.876 26.200 0.999 D D 0.912 11.365 0.896 13.584 1.000 0.706 0.590 0.710 0.563 . 5.720 5.720 9.225 1.172 0.672 1.000 1.000 0.999 968 Peptidase_S54,_rhomboid_domain . . . RHBDL3 76 0 75 12 0.137931034482759 TRUE NA +ENSG00000275023.5 . BCM GRCh38.p13 chr17 38715771 38715771 + G G A Missense_Mutation SNP ENST00000621332.5 exon9 c.G979A p.A327T exonic ENSG00000275023.5 . nonsynonymous SNV ENSG00000275023.5:ENST00000621332.5:exon9:c.G979A:p.A327T 17q12 C3N-00317 0.0048 0.0022 0.0032 0.0001 0.0008 0.0073 0.0052 0.0016 rs146278240 2.17 . T B B N D N . . 0.173 T T D 0.113 . 0.110 . T T T T T T 0.250 3.699 0.971 N N -0.772 0.696 -0.717 0.876 1.000 0.646 0.696 0.615 0.711 . 4.910 2.910 -0.116 0.225 -0.117 0.001 0.994 0.927 553 . . . . MLLT6 173 1 158 33 0.172774869109948 TRUE NA +ENSG00000173786.17 . BCM GRCh38.p13 chr17 41968210 41968210 + G G C Missense_Mutation SNP ENST00000393892.8 exon2 c.G146C p.C49S exonic ENSG00000173786.17 . nonsynonymous SNV ENSG00000173786.17:ENST00000393892.8:exon2:c.G146C:p.C49S 17q21.2 C3N-00317 . . . . . . . . . 3.20 T T B B D D L T N 0.120 T T T 0.048 0.624 0.155 1.565 T T T T T T 2.029 19.480 0.848 D N -0.251 1.737 -0.011 2.323 1.000 0.722 0.672 0.699 0.735 . 4.700 4.700 5.818 1.176 0.676 1.000 0.998 0.993 479 . . . . CNP 179 0 147 39 0.209677419354839 TRUE TRUE +ENSG00000141568.21 . BCM GRCh38.p13 chr17 82520127 82520127 + T T C Missense_Mutation SNP ENST00000335255.10 exon1 c.T239C p.L80P exonic ENSG00000141568.21 . nonsynonymous SNV ENSG00000141568.21:ENST00000335255.10:exon1:c.T239C:p.L80P 17q25.3 C3N-00317 . . . . . . . . . 15.20 D D D D U D M T D 0.552 T T D 0.483 0.611 0.517 2.910 D D D D D D 4.149 28.200 0.998 N D 0.556 5.503 0.458 4.796 1.000 0.726 0.522 0.594 0.373 . 3.620 3.620 3.358 0.768 0.621 1.000 0.998 0.917 . Forkhead-associated_(FHA)_domain . . . FOXK2 135 2 156 11 0.0658682634730539 TRUE NA +ENSG00000132199.20 . BCM GRCh38.p13 chr18 675365 675384 + TGAAATGCTCATGCAGGTGG TGAAATGCTCATGCAGGTGG - Frame_Shift_Del DEL ENST00000647584.2 exon15 c.1167_1186del p.D389Efs*37 exonic ENSG00000132199.20 . frameshift deletion ENSG00000132199.20:ENST00000647584.2:exon15:c.1167_1186del:p.D389Efs*37 18p11.32 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENOSF1 267 0 205 16 0.0723981900452489 TRUE TRUE +ENSG00000105289.15 . BCM GRCh38.p13 chr19 3738921 3738921 + G G A Missense_Mutation SNP ENST00000541714.7 exon13 c.G1418A p.R473H exonic ENSG00000105289.15 . nonsynonymous SNV ENSG00000105289.15:ENST00000541714.7:exon13:c.G1418A:p.R473H 19p13.3 C3N-00317 2.577e-05 0 0 0 0 3.078e-05 0 7.395e-05 rs755131245 3.20 T T D P D N N T N 0.164 T T T 0.087 . 0.357 0.157 T T T T T D 2.581 22.600 0.999 N N -0.071 2.269 -0.190 1.809 0.004 0.696 0.590 0.723 0.613 . 4.370 3.330 2.877 1.176 0.676 0.289 0.020 0.544 970 . . . . TJP3 65 0 40 14 0.259259259259259 TRUE NA +ENSG00000062822.15 . BCM GRCh38.p13 chr19 50407062 50407062 + G G A Missense_Mutation SNP ENST00000440232.7 exon13 c.G1574A p.R525Q exonic ENSG00000062822.15 . nonsynonymous SNV ENSG00000062822.15:ENST00000440232.7:exon13:c.G1574A:p.R525Q 19q13.33 C3N-00317 1.656e-05 0.0002 0 0 0 0 0 0 rs372190244 7.20 D D B B D D L T N 0.381 T T D 0.161 . 0.450 0.985 T T T T T D 3.388 24.400 0.999 D N -0.051 2.335 0.067 2.604 0.263 0.672 0.702 0.571 0.700 . 3.960 3.960 3.605 1.176 0.618 1.000 0.998 0.997 784 . . . . POLD1 136 0 135 23 0.145569620253165 TRUE NA +ENSG00000105366.15 . BCM GRCh38.p13 chr19 51457581 51457581 + G G A Missense_Mutation SNP ENST00000321424.7 exon2 c.C613T p.R205C exonic ENSG00000105366.15 . nonsynonymous SNV ENSG00000105366.15:ENST00000321424.7:exon2:c.C613T:p.R205C 19q13.41 C3N-00317 3.323e-05 9.669e-05 0 0 0 4.524e-05 0 0 rs368238857 2.20 T T D P N N L T D 0.174 T T T 0.084 . 0.375 0.389 T T T T T T 1.541 16.000 0.957 N N -1.145 0.269 -1.469 0.120 0.004 0.497 0.590 0.547 0.613 . 2.690 -5.380 -0.233 0.014 -0.232 0.000 0.001 0.001 976 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . SIGLEC8 101 0 94 16 0.145454545454545 TRUE NA +ENSG00000203326.12 . BCM GRCh38.p13 chr19 53380809 53380809 + A A C Missense_Mutation SNP ENST00000474037.6 exon4 c.A230C p.H77P exonic ENSG00000203326.12 . nonsynonymous SNV ENSG00000203326.12:ENST00000474037.6:exon4:c.A230C:p.H77P 19q13.42 C3N-00317 . . . . . . . . . 1.14 T T . . . N . T D 0.108 T T T 0.054 0.505 0.271 0.529 . . T T T T -0.416 0.178 0.604 N N -0.611 0.967 -0.836 0.707 0.035 0.707 0.654 0.725 0.568 . 0.785 0.785 -0.810 -0.557 -0.483 0.000 0.000 0.003 994 Krueppel-associated_box . . . ZNF525 76 0 98 10 0.0925925925925926 NA TRUE +ENSG00000173581.8 . BCM GRCh38.p13 chr19 55652729 55652729 + T T C Missense_Mutation SNP ENST00000586790.6 exon5 c.T826C p.Y276H exonic ENSG00000173581.8 . nonsynonymous SNV ENSG00000173581.8:ENST00000586790.6:exon5:c.T826C:p.Y276H 19q13.42 C3N-00317 . . . . . . . . . 14.19 D D D D D D L . D 0.547 T T D 0.404 0.496 0.679 3.010 T T D D D D 4.174 28.400 0.998 D D 0.509 5.108 0.452 4.748 1.000 0.726 0.702 0.594 0.636 . 3.790 3.790 3.757 1.138 0.665 1.000 1.000 1.000 934 . . . . CCDC106 101 0 85 21 0.19811320754717 TRUE TRUE +ENSG00000179873.14 . BCM GRCh38.p13 chr19 55809624 55809624 + T T C Missense_Mutation SNP ENST00000589093.5 exon3 c.A986G p.D329G exonic ENSG00000179873.14 . nonsynonymous SNV ENSG00000179873.14:ENST00000589093.5:exon3:c.A986G:p.D329G 19q13.43 C3N-00317 . . . . . . . . . 0.17 . T B B . N N T . 0.209 T T T 0.161 0.494 0.234 . T T T T T T 1.837 18.010 0.920 N N -1.314 0.157 -1.355 0.176 1.000 0.520 0.378 0.441 0.826 . 2.480 0.258 2.238 -0.130 -0.123 0.584 0.000 0.000 830 . . . . NLRP11 224 1 214 13 0.0572687224669604 TRUE NA +ENSG00000198046.12 . BCM GRCh38.p13 chr19 56442176 56442176 + T T A Missense_Mutation SNP ENST00000504904.8 exon7 c.A819T p.K273N exonic ENSG00000198046.12 . nonsynonymous SNV ENSG00000198046.12:ENST00000504904.8:exon7:c.A819T:p.K273N 19q13.43 C3N-00317 . . . . . . . . . 2.20 D D B B N N L T N 0.075 T T T 0.039 . 0.475 0.159 T T T T T T 1.440 15.340 0.949 N N -0.975 0.432 -1.098 0.377 0.000 0.651 0.574 0.651 0.564 . 5.050 -1.840 -0.925 0.143 0.566 0.000 0.010 0.005 988 Zinc_finger_C2H2-type . . . ZNF667 100 0 99 24 0.195121951219512 TRUE TRUE +ENSG00000101280.8 . BCM GRCh38.p13 chr20 873106 873106 + C C T Missense_Mutation SNP ENST00000381922.5 exon9 c.G1366A p.A456T exonic ENSG00000101280.8 . nonsynonymous SNV ENSG00000101280.8:ENST00000381922.5:exon9:c.G1366A:p.A456T 20p13 C3N-00317 . . . . . . . . rs963850145 15.20 D T D D D D M T D 0.575 D D D 0.705 0.578 0.836 0.727 T T D D D T 3.906 26.400 0.999 D D 0.618 6.107 0.540 5.541 1.000 0.609 0.610 0.769 0.542 . 4.250 4.250 6.116 1.026 0.549 1.000 0.966 0.654 940 Fibrinogen,_alpha/beta/gamma_chain,_C-terminal_globular_domain;Fibrinogen,_conserved_site . . ID=COSV67921254;OCCURENCE=1(endometrium) ANGPT4 102 0 117 32 0.214765100671141 TRUE TRUE +ENSG00000124177.15 . BCM GRCh38.p13 chr20 41417313 41417322 + CTCTTGCTCT CTCTTGCTCT - Frame_Shift_Del DEL ENST00000373233.8 exon32 c.6155_6164del p.E2052Afs*42 exonic ENSG00000124177.15 . frameshift deletion ENSG00000124177.15:ENST00000373233.8:exon32:c.6155_6164del:p.E2052Afs*42 20q12 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD6 137 0 174 22 0.112244897959184 TRUE TRUE +ENSG00000132801.7 . BCM GRCh38.p13 chr20 45877190 45877190 + C C G Missense_Mutation SNP ENST00000255152.3 exon2 c.C632G p.T211S exonic ENSG00000132801.7 . nonsynonymous SNV ENSG00000132801.7:ENST00000255152.3:exon2:c.C632G:p.T211S 20q13.12 C3N-00317 . . . . . . . . . 0.20 T T B B N N N T N 0.053 T T T 0.030 0.201 0.231 0.248 T T T T T T 1.274 14.200 0.660 N N -0.586 1.013 -0.431 1.317 0.992 0.615 0.546 0.659 0.636 . 5.490 2.450 1.186 0.224 -0.108 0.949 0.975 0.938 744 . . . . ZSWIM3 275 0 286 55 0.161290322580645 TRUE TRUE +ENSG00000064787.13 . BCM GRCh38.p13 chr20 53985427 53985427 + G G T Missense_Mutation SNP ENST00000395961.7 exon7 c.C1000A p.Q334K exonic ENSG00000064787.13 . nonsynonymous SNV ENSG00000064787.13:ENST00000395961.7:exon7:c.C1000A:p.Q334K 20q13.2 C3N-00317 1.647e-05 0 0.0002 0 0 0 0 0 rs749019655 2.20 T T P B N N L T N 0.276 T T T 0.115 0.246 0.530 0.233 T T T T T T 2.162 20.600 0.978 D D 0.012 2.554 0.107 2.765 1.000 0.554 0.588 0.574 0.542 . 5.800 4.840 4.079 0.186 0.676 0.860 0.411 0.723 952 . . . ID=COSV65083668;OCCURENCE=1(ovary),1(prostate) BCAS1 401 1 418 165 0.283018867924528 TRUE TRUE +ENSG00000123594.5 . BCM GRCh38.p13 chrX 13319529 13319529 + G G A Missense_Mutation SNP ENST00000380622.4 exon1 c.C406T p.L136F exonic ENSG00000123594.5 . nonsynonymous SNV ENSG00000123594.5:ENST00000380622.4:exon1:c.C406T:p.L136F Xp22.2 C3N-00317 1.156e-05 0 0 0 0 2.108e-05 0 0 . 7.19 D T B B D D L T D 0.214 T T T 0.140 0.695 0.354 0.191 T T T T D D 1.120 12.960 0.861 D . . . . . 1.000 . . . . . 0.661 -0.537 3.873 -0.274 -0.389 1.000 0.009 0.006 937 Josephin_domain . . . ATXN3L 181 0 203 42 0.171428571428571 TRUE TRUE +ENSG00000101868.11 . BCM GRCh38.p13 chrX 24703308 24703308 + G G A Missense_Mutation SNP ENST00000379059.7 exon3 c.G208A p.V70I exonic ENSG00000101868.11 . nonsynonymous SNV ENSG00000101868.11:ENST00000379059.7:exon3:c.G208A:p.V70I Xp22.11 C3N-00317 . . . . . . . . . 11.19 D D D D D D M T N 0.437 T T D 0.174 0.330 0.764 0.985 T T T T D D 3.531 24.800 0.999 D . . . . . 1.000 . . . . . 5.370 5.370 8.018 1.172 0.672 1.000 1.000 0.996 93 DNA_polymerase_alpha_catalytic_subunit,_N-terminal_domain . . . POLA1 111 0 141 26 0.155688622754491 TRUE NA +ENSG00000112941.14 . BCM GRCh38.p13 chr5 6742489 6742489 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000112941.14 ENST00000230859.8:exon5:c.1009-1G>A . . 5p15.31 C3N-00317 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.713 32 0.995 D . 1.176 21.730 1.014 19.756 1.000 0.257 0.272 0.232 0.243 0.984 5.190 5.190 9.013 1.176 0.676 1.000 0.826 0.886 809 . . . . TENT4A 142 0 114 28 0.197183098591549 TRUE TRUE +ENSG00000180096.12 . BCM GRCh38.p13 chr16 30381758 30381758 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000180096.12 ENST00000652617.1:exon5:c.305+2T>C . . 16p11.2 C3N-00317 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.666 32 0.989 D . 1.083 16.794 0.908 14.081 1.000 0.090 0.098 0.059 0.051 0.850 4.960 4.960 9.138 1.312 0.756 1.000 0.977 0.680 178 . . . . SEPTIN1 132 0 107 44 0.291390728476821 TRUE NA +ENSG00000125870.11 . BCM GRCh38.p13 chr20 16732163 16732163 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000125870.11 ENST00000246071.8:exon3:c.65-1G>A . . 20p12.1 C3N-00317 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.808 35 0.995 D . 1.287 36.592 1.158 35.957 1.000 0.295 0.275 0.343 0.196 0.985 5.850 5.850 9.926 1.176 0.676 1.000 0.998 0.995 934 . . . . SNRPB2 159 0 137 30 0.179640718562874 TRUE TRUE +ENSG00000116478.12 . BCM GRCh38.p13 chr1 32331748 32331748 + C C T Silent SNP ENST00000373548.8 exon11 c.C1161T p.D387D exonic ENSG00000116478.12 . synonymous SNV ENSG00000116478.12:ENST00000373548.8:exon11:c.C1161T:p.D387D 1p35.1 C3N-00317 2.481e-05 0 0 0.0001 0 3.007e-05 0 0 rs757896216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDAC1 81 0 69 14 0.168674698795181 TRUE NA +ENSG00000143001.5 . BCM GRCh38.p13 chr1 54986213 54986213 + C C T Silent SNP ENST00000371268.4 exon2 c.C132T p.T44T exonic ENSG00000143001.5 . synonymous SNV ENSG00000143001.5:ENST00000371268.4:exon2:c.C132T:p.T44T 1p32.3 C3N-00317 4.143e-05 0 0.0002 0 0 4.526e-05 0 0 rs778412005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM61 154 0 154 20 0.114942528735632 TRUE NA +ENSG00000162733.19 . BCM GRCh38.p13 chr1 162761333 162761333 + C C T Silent SNP ENST00000367921.8 exon9 c.C978T p.D326D exonic ENSG00000162733.19 . synonymous SNV ENSG00000162733.19:ENST00000367921.8:exon9:c.C978T:p.D326D 1q23.3 C3N-00317 7.421e-05 0 0 0.0010 0 0 0 0 rs766364700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63375272;OCCURENCE=1(breast),1(stomach),1(endometrium) DDR2 423 0 431 81 0.158203125 TRUE TRUE +ENSG00000244122.2 . BCM GRCh38.p13 chr2 233682108 233682108 + A A G Silent SNP ENST00000373426.3 exon1 c.A171G p.V57V exonic ENSG00000244122.2 . synonymous SNV ENSG00000244122.2:ENST00000373426.3:exon1:c.A171G:p.V57V 2q37.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UGT1A7 162 0 144 32 0.181818181818182 NA TRUE +ENSG00000153560.12 . BCM GRCh38.p13 chr3 33402872 33402872 + A A G Silent SNP ENST00000283629.8 exon9 c.T960C p.Y320Y exonic ENSG00000153560.12 . synonymous SNV ENSG00000153560.12:ENST00000283629.8:exon9:c.T960C:p.Y320Y 3p22.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBP1 93 0 99 19 0.161016949152542 TRUE TRUE +ENSG00000114738.11 . BCM GRCh38.p13 chr3 50641728 50641728 + C C T Silent SNP ENST00000621469.5 exon4 c.C381T p.F127F exonic ENSG00000114738.11 . synonymous SNV ENSG00000114738.11:ENST00000621469.5:exon4:c.C381T:p.F127F 3p21.2 C3N-00317 8.241e-06 0 0 0 0 0 0 6.061e-05 rs534053112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPKAPK3 226 0 153 36 0.19047619047619 TRUE NA +ENSG00000163625.15 . BCM GRCh38.p13 chr4 84794565 84794565 + G G A Silent SNP ENST00000295888.8 exon21 c.C3441T p.D1147D exonic ENSG00000163625.15 . synonymous SNV ENSG00000163625.15:ENST00000295888.8:exon21:c.C3441T:p.D1147D 4q21.23 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDFY3 207 0 253 29 0.102836879432624 TRUE TRUE +ENSG00000145794.17 . BCM GRCh38.p13 chr5 127402681 127402681 + C C A Silent SNP ENST00000503335.7 exon8 c.C916A p.R306R exonic ENSG00000145794.17 . synonymous SNV ENSG00000145794.17:ENST00000503335.7:exon8:c.C916A:p.R306R 5q23.2 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEGF10 96 0 82 22 0.211538461538462 TRUE TRUE +ENSG00000168830.8 . BCM GRCh38.p13 chr6 87015958 87015958 + G G C Silent SNP ENST00000305344.7 exon2 c.G624C p.A208A exonic ENSG00000168830.8 . synonymous SNV ENSG00000168830.8:ENST00000305344.7:exon2:c.G624C:p.A208A 6q14.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HTR1E 112 0 76 11 0.126436781609195 TRUE TRUE +ENSG00000105866.15 . BCM GRCh38.p13 chr7 21482002 21482002 + T T C Silent SNP ENST00000222584.8 exon5 c.T1986C p.S662S exonic ENSG00000105866.15 . synonymous SNV ENSG00000105866.15:ENST00000222584.8:exon5:c.T1986C:p.S662S 7p15.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SP4 232 0 257 68 0.209230769230769 TRUE TRUE +ENSG00000146592.17 . BCM GRCh38.p13 chr7 28570403 28570403 + G G C Silent SNP ENST00000357727.7 exon5 c.G330C p.T110T exonic ENSG00000146592.17 . synonymous SNV ENSG00000146592.17:ENST00000357727.7:exon5:c.G330C:p.T110T 7p15.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CREB5 107 0 70 16 0.186046511627907 TRUE TRUE +ENSG00000186472.20 . BCM GRCh38.p13 chr7 82950445 82950445 + A A G Silent SNP ENST00000333891.14 exon6 c.T10143C p.V3381V exonic ENSG00000186472.20 . synonymous SNV ENSG00000186472.20:ENST00000333891.14:exon6:c.T10143C:p.V3381V 7q21.11 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCLO 174 0 137 99 0.419491525423729 TRUE TRUE +ENSG00000001630.17 . BCM GRCh38.p13 chr7 92131804 92131804 + T T G Silent SNP ENST00000003100.13 exon2 c.A261C p.P87P exonic ENSG00000001630.17;ENSG00000285953.1 . synonymous SNV ENSG00000001630.17:ENST00000003100.13:exon2:c.A261C:p.P87P,ENSG00000285953.1:ENST00000650585.1:exon18:c.A2094C:p.P698P 7q21.2 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP51A1 114 0 139 46 0.248648648648649 TRUE TRUE +ENSG00000105819.14 . BCM GRCh38.p13 chr7 103312244 103312244 + C C A Silent SNP ENST00000249269.9 exon13 c.C1443A p.R481R exonic ENSG00000105819.14 . synonymous SNV ENSG00000105819.14:ENST00000249269.9:exon13:c.C1443A:p.R481R 7q22.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PMPCB 254 0 360 31 0.0792838874680307 TRUE TRUE +ENSG00000156675.16 . BCM GRCh38.p13 chr8 37899319 37899319 + C C T Silent SNP ENST00000330843.9 exon1 c.G123A p.A41A exonic ENSG00000156675.16 . synonymous SNV ENSG00000156675.16:ENST00000330843.9:exon1:c.G123A:p.A41A 8p11.23 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB11FIP1 212 0 181 31 0.14622641509434 TRUE TRUE +ENSG00000164924.18 . BCM GRCh38.p13 chr8 100948800 100948800 + A A T Silent SNP ENST00000395958.6 exon2 c.T90A p.T30T exonic ENSG00000164924.18 . synonymous SNV ENSG00000164924.18:ENST00000395958.6:exon2:c.T90A:p.T30T 8q22.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YWHAZ 176 0 169 23 0.119791666666667 NA TRUE +ENSG00000183230.17 . BCM GRCh38.p13 chr10 66069475 66069475 + T T C Silent SNP ENST00000433211.7 exon15 c.A1992G p.Q664Q exonic ENSG00000183230.17 . synonymous SNV ENSG00000183230.17:ENST00000433211.7:exon15:c.A1992G:p.Q664Q 10q21.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTNNA3 63 0 78 19 0.195876288659794 TRUE TRUE +ENSG00000148842.18 . BCM GRCh38.p13 chr10 102919395 102919395 + C C T Silent SNP ENST00000369878.9 exon1 c.C915T p.I305I exonic ENSG00000148842.18 . synonymous SNV ENSG00000148842.18:ENST00000369878.9:exon1:c.C915T:p.I305I 10q24.32 C3N-00317 8.311e-06 9.762e-05 0 0 0 0 0 0 rs371599593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNNM2 549 0 478 96 0.167247386759582 TRUE NA +ENSG00000134627.12 . BCM GRCh38.p13 chr11 94595364 94595364 + G G A Silent SNP ENST00000299001.11 exon10 c.G1206A p.K402K exonic ENSG00000134627.12 . synonymous SNV ENSG00000134627.12:ENST00000299001.11:exon10:c.G1206A:p.K402K 11q21 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIWIL4 79 0 92 12 0.115384615384615 TRUE TRUE +ENSG00000185567.7 . BCM GRCh38.p13 chr14 104950840 104950840 + C C T Silent SNP ENST00000333244.6 exon7 c.G4611A p.K1537K exonic ENSG00000185567.7 . synonymous SNV ENSG00000185567.7:ENST00000333244.6:exon7:c.G4611A:p.K1537K 14q32.33 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHNAK2 448 0 457 62 0.119460500963391 NA TRUE +ENSG00000182601.7 . BCM GRCh38.p13 chr16 25692891 25692891 + G G A Silent SNP ENST00000331351.6 exon1 c.G474A p.E158E exonic ENSG00000182601.7 . synonymous SNV ENSG00000182601.7:ENST00000331351.6:exon1:c.G474A:p.E158E 16p12.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HS3ST4 81 0 57 8 0.123076923076923 TRUE TRUE +ENSG00000266714.9 . BCM GRCh38.p13 chr17 75620594 75620594 + C C G Silent SNP ENST00000633867.1 exon38 c.C4506G p.S1502S exonic ENSG00000266714.9 . synonymous SNV ENSG00000266714.9:ENST00000633867.1:exon38:c.C4506G:p.S1502S 17q25.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO15B 126 0 105 26 0.198473282442748 TRUE TRUE +ENSG00000170920.2 . BCM GRCh38.p13 chr19 9126309 9126309 + G G T Silent SNP ENST00000305444.2 exon1 c.C642A p.I214I exonic ENSG00000170920.2 . synonymous SNV ENSG00000170920.2:ENST00000305444.2:exon1:c.C642A:p.I214I 19p13.2 C3N-00317 2.473e-05 0 0 0 0 4.497e-05 0 0 rs375002810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR7G3 158 0 195 47 0.194214876033058 TRUE TRUE +ENSG00000130164.14 . BCM GRCh38.p13 chr19 11128015 11128015 + C C T Silent SNP ENST00000558518.6 exon16 c.C2319T p.G773G exonic ENSG00000130164.14 . synonymous SNV ENSG00000130164.14:ENST00000558518.6:exon16:c.C2319T:p.G773G 19p13.2 C3N-00317 1.648e-05 0 0 0 0 2.998e-05 0 0 rs377563758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LDLR 292 1 294 49 0.142857142857143 TRUE NA +ENSG00000105640.13 . BCM GRCh38.p13 chr19 17863009 17863009 + G G A Silent SNP ENST00000222247.10 exon4 c.G420A p.P140P exonic ENSG00000105640.13 . synonymous SNV ENSG00000105640.13:ENST00000222247.10:exon4:c.G420A:p.P140P 19p13.11 C3N-00317 2.551e-05 0 0 0.0002 0 1.548e-05 0 0 rs772177229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPL18A 141 0 107 30 0.218978102189781 TRUE NA +ENSG00000173404.5 . BCM GRCh38.p13 chr20 20368849 20368849 + C C T Silent SNP ENST00000310227.3 exon1 c.C582T p.A194A exonic ENSG00000173404.5 . synonymous SNV ENSG00000173404.5:ENST00000310227.3:exon1:c.C582T:p.A194A 20p11.23 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INSM1 37 0 36 15 0.294117647058824 TRUE TRUE +ENSG00000286600.1 . BCM GRCh38.p13 chr1 201377626 201377626 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000286600.1 . . . 1q32.1 C3N-00317 . . . . . . . . . 3.12 D D . . . D . T N . T T . 0.025 0.339 0.141 . . . T T T . 0.977 11.330 0.813 N N -0.704 0.806 -0.837 0.707 1.000 0.497 0.590 0.615 0.542 . 4.500 -2.740 -0.579 -0.713 -0.087 0.021 0.040 0.788 934 . . . . AC119427.2 250 0 279 45 0.138888888888889 TRUE TRUE +ENSG00000234336.7 . BCM GRCh38.p13 chr7 28240600 28240600 + C C - RNA SNP NA NA NA NA ncRNA_exonic ENSG00000234336.7 . . . 7p15.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JAZF1-AS1 203 0 172 41 0.192488262910798 TRUE NA +ENSG00000164985.15 . BCM GRCh38.p13 chr9 15471215 15471215 + G G A Intron SNP NA NA NA NA intronic ENSG00000164985.15 . . . 9p22.3 C3N-00317 . . . . . . . . rs10962042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSIP1 124 0 121 19 0.135714285714286 TRUE NA +ENSG00000225830.14 . BCM GRCh38.p13 chr10 49516426 49516426 + T T C Intron SNP NA NA NA NA intronic ENSG00000225830.14 . . . 10q11.23 C3N-00317 . . . . . . . . . 5.14 D D . . . D . T D 0.399 T T T 0.127 0.870 0.095 0.891 . . T T D T 1.574 16.210 0.986 N N -0.079 2.242 -0.227 1.722 0.981 0.707 0.654 0.602 0.714 . 0.468 0.468 1.575 0.430 0.519 0.986 0.972 0.981 720 . . . . ERCC6 148 0 155 43 0.217171717171717 TRUE TRUE +ENSG00000087448.11 . BCM GRCh38.p13 chr12 27791906 27791906 + G G A Intron SNP NA NA NA NA intronic ENSG00000087448.11 . . . 12p11.22 C3N-00317 0.0004 0 0 0 0 0 0 0.0027 rs377545529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL42 92 0 84 14 0.142857142857143 TRUE NA +ENSG00000258561.2 . BCM GRCh38.p13 chr14 66507679 66507679 + A A G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000258561.2 . . . 14q23.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL359232.1 162 0 117 39 0.25 TRUE NA +ENSG00000201899.1 . BCM GRCh38.p13 chr14 100984825 100984825 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000201899.1 . . . 14q32.31 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD114-24 70 0 82 10 0.108695652173913 TRUE NA +ENSG00000187720.14 . BCM GRCh38.p13 chr15 71738116 71738116 + G G A Intron SNP NA NA NA NA intronic ENSG00000187720.14 . . . 15q23 C3N-00317 9.215e-05 0 0 0 0 0 0 0.0009 rs767103460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THSD4 37 0 20 5 0.2 TRUE NA +ENSG00000205015.1 . BCM GRCh38.p13 chr16 89168558 89168558 + T T G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000205015.1 . . . 16q24.3 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02138 154 0 164 11 0.0628571428571429 TRUE NA +ENSG00000100219.16 . BCM GRCh38.p13 chr22 28795283 28795283 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000100219.16 ENST00000216037.10:c.*263C>T . . 22q12.1 C3N-00317 4.511e-05 0 0 0 0 0.0001 0 0 rs751977462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53273909;OCCURENCE=1(large_intestine) XBP1 99 0 83 20 0.194174757281553 TRUE NA +ENSG00000196843.17 . BCM GRCh38.p13 chr2 96550629 96550630 + AC AC GA Unknown MNP ENST00000357485.8 exon6 c.466_467delinsGA p.T156D exonic ENSG00000196843.17 . nonframeshift substitution ENSG00000196843.17:ENST00000357485.8:exon6:c.466_467delinsGA:p.T156D 2q11.2 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID5A 93 0 98 12 0.109090909090909 TRUE TRUE +ENSG00000173200.13 . BCM GRCh38.p13 chr3 122606035 122606036 + GG GG TT Unknown MNP ENST00000464300.7 exon2 c.286_287delinsTT p.G96L exonic ENSG00000173200.13 . nonframeshift substitution ENSG00000173200.13:ENST00000464300.7:exon2:c.286_287delinsTT:p.G96L 3q21.1 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PARP15 82 0 69 25 0.265957446808511 TRUE TRUE +ENSG00000107485.18 . BCM GRCh38.p13 chr10 8073788 8073789 + GA GA TT Unknown MNP ENST00000346208.4 exon6 c.1097_1098delinsTT p.R366L exonic ENSG00000107485.18 . nonframeshift substitution ENSG00000107485.18:ENST00000346208.4:exon6:c.1097_1098delinsTT:p.R366L 10p14 C3N-00317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GATA3 291 0 336 66 0.164179104477612 TRUE NA +ENSG00000041988.15 . BCM GRCh38.p13 chr1 6632438 6632438 + G G T Missense_Mutation SNP ENST00000054650.8 exon5 c.G381T p.M127I exonic ENSG00000041988.15 . nonsynonymous SNV ENSG00000041988.15:ENST00000054650.8:exon5:c.G381T:p.M127I 1p36.31 C3N-00320 . . . . . . . . . 6.20 T T B B N D L D N 0.259 D D D 0.198 0.202 0.782 0.384 T T T T T T 1.095 12.720 0.933 D N -0.484 1.208 -0.455 1.277 1.000 0.672 0.702 0.490 0.636 . 4.780 4.780 1.917 1.176 0.676 0.712 0.012 0.260 744 . . . . THAP3 176 0 115 39 0.253246753246753 TRUE TRUE +ENSG00000198793.13 . BCM GRCh38.p13 chr1 11157174 11157174 + A A G Missense_Mutation SNP ENST00000361445.9 exon30 c.T4447C p.C1483R exonic ENSG00000198793.13 . nonsynonymous SNV ENSG00000198793.13:ENST00000361445.9:exon30:c.T4447C:p.C1483R 1p36.22 C3N-00320 . . . . . . . . rs1057519914 17.20 D D D P D D M T D 0.939 D T D 0.847 0.767 0.973 2.481 D D D D D D 4.177 28.400 0.998 D D 0.853 9.909 0.806 10.302 1.000 0.722 0.725 0.644 0.735 . 5.320 5.320 8.907 1.312 0.756 1.000 1.000 0.987 332 PIK-related_kinase . . ID=COSV63875155;OCCURENCE=1(genital_tract),2(central_nervous_system),1(kidney) MTOR 90 0 64 28 0.304347826086957 TRUE TRUE +ENSG00000117148.8 . BCM GRCh38.p13 chr1 17826475 17826475 + G G A Missense_Mutation SNP ENST00000375406.2 exon3 c.G1057A p.E353K exonic ENSG00000117148.8 . nonsynonymous SNV ENSG00000117148.8:ENST00000375406.2:exon3:c.G1057A:p.E353K 1p36.13 C3N-00320 . . . . . . . . . 4.20 D T B B N N L D N 0.106 T D D 0.211 0.552 0.640 0.487 T T T T T T 0.629 7.796 0.941 N N -1.127 0.283 -1.207 0.277 0.591 0.526 0.616 0.506 0.584 . 5.160 -3.570 0.226 1.006 -0.135 0.010 0.420 0.039 867 . . . . ACTL8 42 0 28 5 0.151515151515152 TRUE TRUE +ENSG00000164010.15 . BCM GRCh38.p13 chr1 42843013 42843013 + A A - Frame_Shift_Del DEL ENST00000372517.8 exon12 c.1209delA p.N405Tfs*5 exonic ENSG00000164010.15 . frameshift deletion ENSG00000164010.15:ENST00000372517.8:exon12:c.1209delA:p.N405Tfs*5 1p34.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERMAP 126 0 107 37 0.256944444444444 TRUE TRUE +ENSG00000154222.14 . BCM GRCh38.p13 chr1 52357572 52357572 + G G T Missense_Mutation SNP ENST00000371586.6 exon15 c.C1724A p.A575D exonic ENSG00000154222.14 . nonsynonymous SNV ENSG00000154222.14:ENST00000371586.6:exon15:c.C1724A:p.A575D 1p32.3 C3N-00320 . . . . . . . . . 8.20 D D D D N D M T N 0.575 T T T 0.126 0.234 0.591 0.062 T T T T D T 3.595 25.000 0.995 D N 0.288 3.720 0.323 3.852 0.995 0.672 0.702 0.702 0.711 . 5.650 3.730 2.976 1.176 0.676 1.000 0.996 0.987 355 Domain_of_unknown_function_DM14 . . . CC2D1B 163 0 139 52 0.272251308900524 TRUE TRUE +ENSG00000183856.11 . BCM GRCh38.p13 chr1 156556610 156556610 + C C T Missense_Mutation SNP ENST00000361170.7 exon12 c.G1213A p.A405T exonic ENSG00000183856.11 . nonsynonymous SNV ENSG00000183856.11:ENST00000361170.7:exon12:c.G1213A:p.A405T 1q22 C3N-00320 8.31e-06 0 0 0 0 0 0.0011 0 rs749818611 11.20 D T D D D D M T N 0.731 T T D 0.242 0.392 0.614 0.506 T T T T D D 3.108 23.600 0.999 D D 0.784 8.476 0.715 8.038 1.000 0.732 0.654 0.744 0.636 . 5.540 5.540 7.677 1.026 0.549 1.000 1.000 0.954 665 . . . . IQGAP3 96 0 85 37 0.30327868852459 TRUE NA +ENSG00000162729.14 . BCM GRCh38.p13 chr1 160098442 160098442 + G G A Missense_Mutation SNP ENST00000314485.12 exon1 c.C31T p.P11S exonic ENSG00000162729.14 . nonsynonymous SNV ENSG00000162729.14:ENST00000314485.12:exon1:c.C31T:p.P11S 1q23.2 C3N-00320 . . . . . . . . . 0.20 T T B B N N N T N 0.214 T T T 0.053 0.312 0.350 0.139 T T T T T T 1.751 17.380 0.887 N N -0.945 0.466 -0.886 0.639 1.000 0.726 0.522 0.594 0.710 . 3.250 2.300 1.110 0.238 0.668 0.020 0.016 0.373 744 . . . . IGSF8 108 0 53 10 0.158730158730159 TRUE TRUE +ENSG00000144406.19 . BCM GRCh38.p13 chr2 209816989 209816989 + G G A Missense_Mutation SNP ENST00000439458.5 exon10 c.G1416A p.M472I exonic ENSG00000144406.19 . nonsynonymous SNV ENSG00000144406.19:ENST00000439458.5:exon10:c.G1416A:p.M472I 2q34 C3N-00320 . . . . . . . . . 7.19 D D B B . D N T N 0.424 T T T 0.082 0.276 0.302 0.359 D T T T D T 3.024 23.500 0.991 D D -0.108 2.148 0.110 2.776 0.999 0.487 0.574 0.492 0.613 . 5.380 5.380 7.536 1.176 0.676 1.000 0.994 0.958 814 . . . . UNC80 394 1 304 114 0.272727272727273 TRUE TRUE +ENSG00000244122.2 . BCM GRCh38.p13 chr2 233682602 233682602 + - NA T Frame_Shift_Ins NA ENST00000373426.3 exon1 c.666dupT p.K225Qfs*9 exonic ENSG00000244122.2 . frameshift insertion ENSG00000244122.2:ENST00000373426.3:exon1:c.666dupT:p.K225Qfs*9 2q37.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UGT1A7 NA NA NA NA NA NA NA +ENSG00000163703.19 . BCM GRCh38.p13 chr3 9940890 9940891 + GC GC - Frame_Shift_Del DEL ENST00000452070.6 exon6 c.501_502del p.Q168Vfs*2 exonic ENSG00000163703.19 . frameshift deletion ENSG00000163703.19:ENST00000452070.6:exon6:c.501_502del:p.Q168Vfs*2 3p25.3 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRELD1 299 0 115 73 0.388297872340426 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52627364 52627364 + T T A Nonsense_Mutation SNP ENST00000296302.11 exon13 c.A1450T p.K484X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon13:c.A1450T:p.K484X 3p21.1 C3N-00320 . . . . . . . . . 5.6 . . . . D A . . . 0.929 . . . . . . . . . D D . . 7.942 40 0.996 D N 1.080 16.674 0.951 16.129 0.987 0.707 0.654 0.725 0.714 . 5.930 5.930 5.832 1.138 0.665 1.000 1.000 1.000 30 Bromodomain . . . PBRM1 118 0 75 59 0.440298507462687 TRUE TRUE +ENSG00000182580.3 . BCM GRCh38.p13 chr3 184577674 184577674 + C C A Missense_Mutation SNP ENST00000330394.3 exon7 c.C1496A p.S499Y exonic ENSG00000182580.3 . nonsynonymous SNV ENSG00000182580.3:ENST00000330394.3:exon7:c.C1496A:p.S499Y 3q27.1 C3N-00320 . . . . . . . . . 5.20 T T B B N D L T N 0.483 T T D 0.061 0.365 0.504 1.322 T T T T D D 2.698 22.800 0.980 D N 0.041 2.662 0.192 3.143 1.000 0.516 0.610 0.577 0.613 . 5.270 5.270 2.892 1.018 0.589 1.000 0.999 0.995 512 Fibronectin_type_III . . . EPHB3 66 0 46 18 0.28125 TRUE TRUE +ENSG00000068078.18 . BCM GRCh38.p13 chr4 1805803 1805803 + C C A Missense_Mutation SNP ENST00000440486.7 exon13 c.C1699A p.L567M exonic ENSG00000068078.18 . nonsynonymous SNV ENSG00000068078.18:ENST00000440486.7:exon13:c.C1699A:p.L567M 4p16.3 C3N-00320 . . . . . . . . . 19.20 D D D D D D M D N 0.792 D D D 0.743 0.853 0.893 0.957 D D D D D D 3.309 24.100 0.955 D D 0.231 3.443 0.098 2.726 1.000 0.718 0.547 0.571 0.563 . 4.440 3.600 3.195 1.004 -0.234 1.000 0.901 0.448 658 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . FGFR3 180 0 135 42 0.23728813559322 TRUE TRUE +ENSG00000013288.9 . BCM GRCh38.p13 chr4 6621254 6621254 + G G A Missense_Mutation SNP ENST00000285599.8 exon19 c.G2999A p.R1000Q exonic ENSG00000013288.9 . nonsynonymous SNV ENSG00000013288.9:ENST00000285599.8:exon19:c.G2999A:p.R1000Q 4p16.1 C3N-00320 8.25e-06 0 0 0 0 0 0 6.068e-05 rs757830667 13.20 D D D D N D M D D 0.309 D D D 0.548 0.775 0.819 0.390 T T T T D T 2.568 22.600 0.999 D N 0.239 3.478 0.068 2.605 0.998 0.732 0.644 0.673 0.728 . 3.090 1.180 1.389 1.176 0.676 1.000 0.881 0.357 982 Glycosyl_hydrolase_family_38,_C-terminal . . ID=COSV53450411;OCCURENCE=1(oesophagus),2(large_intestine) MAN2B2 114 0 90 23 0.20353982300885 TRUE TRUE +ENSG00000173013.6 . BCM GRCh38.p13 chr4 7041961 7041966 + CTCCTT CTCCTT - In_Frame_Del DEL ENST00000310085.6 exon1 c.973_978del p.K325_E326del exonic ENSG00000173013.6 . nonframeshift deletion ENSG00000173013.6:ENST00000310085.6:exon1:c.973_978del:p.K325_E326del 4p16.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC96 85 0 54 21 0.28 TRUE TRUE +ENSG00000169851.15 . BCM GRCh38.p13 chr4 30721633 30721633 + G G T Missense_Mutation SNP ENST00000361762.3 exon1 c.G211T p.G71C exonic ENSG00000169851.15 . nonsynonymous SNV ENSG00000169851.15:ENST00000361762.3:exon1:c.G211T:p.G71C 4p15.1 C3N-00320 . . . . . . . . . 12.19 D D D D . D M T D 0.753 T T D 0.380 0.588 0.391 . T T T T D D 4.188 28.500 0.995 D D 0.635 6.301 0.533 5.474 1.000 0.652 0.563 0.641 0.373 . 5.080 4.230 7.839 1.167 0.618 1.000 0.760 0.693 495 Cadherin-like;Cadherin,_N-terminal . . . PCDH7 134 1 84 45 0.348837209302326 TRUE TRUE +ENSG00000138756.17 . BCM GRCh38.p13 chr4 78844928 78844928 + G G A Missense_Mutation SNP ENST00000335016.9 exon5 c.G547A p.V183I exonic ENSG00000138756.17 . nonsynonymous SNV ENSG00000138756.17:ENST00000335016.9:exon5:c.G547A:p.V183I 4q21.21 C3N-00320 . . . . . . . . . 5.19 T T P P . D N T N 0.541 T T T 0.200 0.670 0.275 0.336 T T T T D D 4.173 28.400 0.998 D D 0.551 5.454 0.655 6.986 1.000 0.732 0.659 0.659 0.728 . 5.540 5.540 9.968 1.146 0.618 1.000 1.000 0.998 532 Protein_kinase_domain . . . BMP2K 95 0 73 22 0.231578947368421 TRUE TRUE +ENSG00000189308.11 . BCM GRCh38.p13 chr4 82984396 82984396 + G G A Missense_Mutation SNP ENST00000340417.8 exon2 c.C449T p.S150L exonic ENSG00000189308.11 . nonsynonymous SNV ENSG00000189308.11:ENST00000340417.8:exon2:c.C449T:p.S150L 4q21.22 C3N-00320 . . . . . . . . . 7.19 D T B B D D N . N 0.244 T T T 0.056 0.161 0.068 0.183 T T T T D D 3.247 24.000 0.996 D D -0.050 2.337 0.180 3.085 1.000 0.741 0.546 0.659 0.674 . 5.590 4.700 5.932 1.176 0.676 1.000 1.000 0.996 895 . . . . LIN54 151 1 128 49 0.27683615819209 TRUE TRUE +ENSG00000163625.15 . BCM GRCh38.p13 chr4 84696751 84696751 + A A - Frame_Shift_Del DEL ENST00000295888.8 exon57 c.8669delT p.F2890Sfs*14 exonic ENSG00000163625.15 . frameshift deletion ENSG00000163625.15:ENST00000295888.8:exon57:c.8669delT:p.F2890Sfs*14 4q21.23 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDFY3 126 0 113 39 0.256578947368421 TRUE TRUE +ENSG00000109436.8 . BCM GRCh38.p13 chr4 140624199 140624199 + C C T Missense_Mutation SNP ENST00000442267.3 exon20 c.G2995A p.E999K exonic ENSG00000109436.8 . nonsynonymous SNV ENSG00000109436.8:ENST00000442267.3:exon20:c.G2995A:p.E999K 4q31.21 C3N-00320 . . . . . . . . . 6.20 T T B B D D L T N 0.337 T T T 0.118 0.326 0.110 0.630 T T T T D D 3.025 23.500 0.998 D D 0.187 3.246 0.383 4.240 1.000 0.706 0.710 0.602 0.714 . 5.840 5.840 7.568 1.026 0.599 1.000 1.000 0.995 878 . . . . TBC1D9 130 0 106 18 0.145161290322581 TRUE TRUE +ENSG00000113231.14 . BCM GRCh38.p13 chr5 77325584 77325584 + T T C Missense_Mutation SNP ENST00000264917.10 exon3 c.T445C p.W149R exonic ENSG00000113231.14;ENSG00000284762.1 . nonsynonymous SNV ENSG00000113231.14:ENST00000264917.10:exon3:c.T445C:p.W149R,ENSG00000284762.1:ENST00000646262.1:exon5:c.T73C:p.W25R 5q13.3 C3N-00320 . . . . . . . . . 10.20 T T B B D D L T D 0.639 T T D 0.426 0.660 0.222 2.386 D T D D D T 2.665 22.800 0.945 D D 0.140 3.047 0.319 3.828 1.000 0.554 0.590 0.602 0.542 . 5.790 5.790 5.953 1.138 0.665 1.000 1.000 0.999 659 . . . . PDE8B 216 0 231 93 0.287037037037037 TRUE TRUE +ENSG00000113522.14 . BCM GRCh38.p13 chr5 132642241 132642245 + TTTTG TTTTG - Frame_Shift_Del DEL ENST00000378823.8 exon25 c.3816_3820del p.F1273Gfs*7 exonic ENSG00000113522.14;ENSG00000283782.2 . frameshift deletion ENSG00000113522.14:ENST00000378823.8:exon25:c.3816_3820del:p.F1273Gfs*7,ENSG00000283782.2:ENST00000640655.2:exon26:c.3519_3523del:p.F1174Gfs*7 5q31.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAD50 230 0 194 58 0.23015873015873 TRUE TRUE +ENSG00000113108.19 . BCM GRCh38.p13 chr5 140562430 140562430 + T T C Missense_Mutation SNP ENST00000357560.8 exon5 c.A421G p.I141V exonic ENSG00000113108.19 . nonsynonymous SNV ENSG00000113108.19:ENST00000357560.8:exon5:c.A421G:p.I141V 5q31.3 C3N-00320 . . . . . . . . . 8.20 T T D D D D N T N 0.220 T T T 0.102 0.569 0.540 0.219 T T T T D D 2.029 19.470 0.976 D D 0.349 4.043 0.396 4.331 1.000 0.719 0.723 0.644 0.684 . 5.120 5.120 2.898 1.049 0.665 1.000 1.000 0.988 216 PTB/PI_domain . . . APBB3 145 0 134 46 0.255555555555556 TRUE TRUE +ENSG00000253846.2 . BCM GRCh38.p13 chr5 141413605 141413605 + G G A Missense_Mutation SNP ENST00000398610.2 exon1 c.G430A p.V144I exonic ENSG00000253846.2 . nonsynonymous SNV ENSG00000253846.2:ENST00000398610.2:exon1:c.G430A:p.V144I 5q31.3 C3N-00320 . . . . . . . . . 1.18 T T B B . D N T N 0.049 T T T 0.035 0.536 0.197 0.398 . T T T T T 0.653 8.016 0.900 N N -1.161 0.256 -1.092 0.384 0.999 0.652 0.707 0.641 0.604 . 5.690 0.062 -0.420 -0.164 -0.941 0.000 0.866 0.599 814 Cadherin-like . . . PCDHGA10 194 0 137 55 0.286458333333333 TRUE TRUE +ENSG00000204394.13 . BCM GRCh38.p13 chr6 31792229 31792229 + C C T Missense_Mutation SNP ENST00000375663.8 exon6 c.G859A p.G287R exonic ENSG00000204394.13 . nonsynonymous SNV ENSG00000204394.13:ENST00000375663.8:exon6:c.G859A:p.G287R 6p21.33 C3N-00320 8.419e-06 0 0 0 0 1.539e-05 0 0 rs763964925 12.19 D D D D D D H T D 0.553 T T D 0.377 . 0.529 1.469 T T T T D . 4.111 27.800 0.999 D D 0.835 9.501 0.772 9.356 1.000 0.722 0.723 0.723 0.735 . 5.400 5.400 6.211 1.026 0.549 1.000 0.997 0.961 900 . . . ID=COSV65155616;OCCURENCE=1(upper_aerodigestive_tract) VARS1 103 0 91 39 0.3 TRUE TRUE +ENSG00000197283.17 . BCM GRCh38.p13 chr6 33443338 33443338 + A A T Missense_Mutation SNP ENST00000646630.1 exon15 c.A2786T p.N929I exonic ENSG00000197283.17 . nonsynonymous SNV ENSG00000197283.17:ENST00000646630.1:exon15:c.A2786T:p.N929I 6p21.32 C3N-00320 . . . . . . . . . 13.20 D D D D N D M T D 0.859 T T D 0.297 0.611 0.579 2.551 D T T T D D 4.091 27.700 0.993 D D 0.560 5.542 0.485 5.025 1.000 0.672 0.577 0.702 0.636 . 4.450 3.260 6.743 1.195 0.669 1.000 1.000 0.999 490 Domain_of_unknown_function_DUF3498 . . . SYNGAP1 261 0 209 67 0.242753623188406 TRUE TRUE +ENSG00000173612.10 . BCM GRCh38.p13 chr6 116793233 116793233 + A A C Missense_Mutation SNP ENST00000310357.8 exon6 c.T1690G p.L564V exonic ENSG00000173612.10 . nonsynonymous SNV ENSG00000173612.10:ENST00000310357.8:exon6:c.T1690G:p.L564V 6q22.1 C3N-00320 . . . . . . . . . 1.20 T T B B N N L D N 0.122 T T T 0.047 0.364 0.566 0.046 T T T T T T 1.026 11.940 0.969 N N -0.651 0.897 -0.576 1.083 0.002 0.487 0.574 0.574 0.542 . 5.170 2.660 0.454 1.298 0.674 0.000 0.999 0.846 501 GPCR,_family_3,_conserved_site;GPCR,_family_3,_nine_cysteines_domain . . ID=COSV100114460;OCCURENCE=1(endometrium) GPRC6A 30 0 22 18 0.45 TRUE TRUE +ENSG00000011426.11 . BCM GRCh38.p13 chr7 36410679 36410679 + C C T Missense_Mutation SNP ENST00000265748.7 exon6 c.C1262T p.T421I exonic ENSG00000011426.11 . nonsynonymous SNV ENSG00000011426.11:ENST00000265748.7:exon6:c.C1262T:p.T421I 7p14.2 C3N-00320 . . . . . . . . . 9.20 D D P B D D M T N 0.205 T T T 0.112 0.136 0.307 0.287 T T T T D D 2.857 23.100 0.999 D D 0.346 4.024 0.460 4.812 1.000 0.719 0.723 0.725 0.714 . 5.720 5.720 5.730 1.022 0.545 1.000 1.000 0.998 657 . . . . ANLN 100 0 76 28 0.269230769230769 TRUE NA +ENSG00000183117.19 . BCM GRCh38.p13 chr8 3387559 3387559 + C C A Missense_Mutation SNP ENST00000635120.2 exon18 c.G2717T p.S906I exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon18:c.G2717T:p.S906I 8p23.2 C3N-00320 . . . . . . . . . 12.19 T D D D D D . T D 0.947 T T T 0.521 0.527 0.615 . T T D D D D 3.731 25.500 0.991 D D 0.346 4.028 0.270 3.545 1.000 0.500 0.574 0.624 0.564 . 5.110 5.110 7.717 0.979 0.599 1.000 0.917 0.272 975 Sushi/SCR/CCP_domain . . . CSMD1 202 1 152 46 0.232323232323232 TRUE TRUE +ENSG00000185053.14 . BCM GRCh38.p13 chr8 14237604 14237604 + G G C Missense_Mutation SNP ENST00000382080.6 exon4 c.C412G p.Q138E exonic ENSG00000185053.14 . nonsynonymous SNV ENSG00000185053.14:ENST00000382080.6:exon4:c.C412G:p.Q138E 8p22 C3N-00320 . . . . . . . . . 14.18 D D B B D D . D N 0.800 D D D 0.557 0.577 0.700 0.014 T . D D D D 3.130 23.700 0.990 D D 0.296 3.758 0.431 4.583 0.980 0.487 0.574 0.574 0.564 . 5.390 5.390 8.347 1.176 0.618 1.000 1.000 0.996 968 . . . . SGCZ 198 0 161 53 0.247663551401869 TRUE TRUE +ENSG00000134014.17 . BCM GRCh38.p13 chr8 28156028 28156028 + T T A Missense_Mutation SNP ENST00000256398.13 exon11 c.T1187A p.I396K exonic ENSG00000134014.17 . nonsynonymous SNV ENSG00000134014.17:ENST00000256398.13:exon11:c.T1187A:p.I396K 8p21.1 C3N-00320 . . . . . . . . . 7.19 T T B B D D L . N 0.624 T T T 0.286 0.487 0.757 0.702 T T D T D D 2.001 19.260 0.944 D D -0.086 2.219 0.100 2.735 1.000 0.722 0.699 0.710 0.714 . 5.460 4.300 4.500 0.207 -0.109 1.000 0.998 0.868 928 GNAT_domain;Radical_SAM . . . ELP3 189 0 175 58 0.248927038626609 TRUE TRUE +ENSG00000129696.13 . BCM GRCh38.p13 chr8 33503549 33503549 + T T A Missense_Mutation SNP ENST00000431156.7 exon6 c.A1139T p.H380L exonic ENSG00000129696.13 . nonsynonymous SNV ENSG00000129696.13:ENST00000431156.7:exon6:c.A1139T:p.H380L 8p12 C3N-00320 . . . . . . . . . 17.20 D D D D D D M T D 0.939 D D D 0.862 0.734 0.884 0.694 T T D D D D 4.064 27.500 0.978 D D 0.731 7.573 0.691 7.590 1.000 0.707 0.654 0.725 0.636 . 6.030 6.030 6.688 1.138 0.665 1.000 0.998 0.858 867 . . . . TTI2 395 0 294 121 0.291566265060241 TRUE TRUE +ENSG00000184428.13 . BCM GRCh38.p13 chr8 143316021 143316021 + G G A Missense_Mutation SNP ENST00000329245.9 exon11 c.C1436T p.S479L exonic ENSG00000184428.13 . nonsynonymous SNV ENSG00000184428.13:ENST00000329245.9:exon11:c.C1436T:p.S479L 8q24.3 C3N-00320 0.0004 9.617e-05 8.637e-05 0.0049 0 1.499e-05 0 6.056e-05 rs141145196 9.20 D D D P U D M T D 0.704 T T T 0.351 . 0.752 0.632 T T T T T D 3.191 23.800 0.998 D D 0.353 4.067 0.127 2.849 0.999 0.718 0.644 0.571 0.563 . 3.660 2.780 6.416 0.891 0.610 1.000 0.858 0.396 976 DNA_topoisomerase_I,_eukaryotic-type;DNA_topoisomerase_I,_catalytic_core,_eukaryotic-type . . ID=COSV61318097;OCCURENCE=1(lung) TOP1MT 210 0 138 55 0.284974093264249 TRUE TRUE +ENSG00000122707.12 . BCM GRCh38.p13 chr9 36091203 36091203 + T T A Missense_Mutation SNP ENST00000377966.4 exon10 c.T945A p.N315K exonic ENSG00000122707.12 . nonsynonymous SNV ENSG00000122707.12:ENST00000377966.4:exon10:c.T945A:p.N315K 9p13.3 C3N-00320 . . . . . . . . . 4.20 D T B B D N L T N 0.399 T T T 0.043 0.509 0.368 0.320 T T T T T D 2.135 20.400 0.995 D N -0.506 1.165 -0.342 1.480 1.000 0.731 0.588 0.616 0.649 . 5.920 0.213 0.259 0.197 0.665 0.992 1.000 0.999 439 . . . . RECK 184 0 190 57 0.230769230769231 TRUE TRUE +ENSG00000122707.12 . BCM GRCh38.p13 chr9 36108122 36108122 + A A T Missense_Mutation SNP ENST00000377966.4 exon14 c.A1723T p.I575L exonic ENSG00000122707.12 . nonsynonymous SNV ENSG00000122707.12:ENST00000377966.4:exon14:c.A1723T:p.I575L 9p13.3 C3N-00320 . . . . . . . . . 1.20 T T B B N N N T N 0.181 T T T 0.092 0.243 0.440 0.225 T T T T T T 1.283 14.260 0.946 D N -0.597 0.993 -0.493 1.213 0.874 0.706 0.588 0.659 0.613 . 5.380 -2.840 0.307 1.312 0.756 0.990 1.000 1.000 444 . . . . RECK 116 0 90 40 0.307692307692308 TRUE TRUE +ENSG00000130958.13 . BCM GRCh38.p13 chr9 96322035 96322035 + T T - Frame_Shift_Del DEL ENST00000253270.13 exon11 c.877delA p.I293Ffs*5 exonic ENSG00000130958.13;ENSG00000285269.2 . frameshift deletion ENSG00000130958.13:ENST00000253270.13:exon11:c.877delA:p.I293Ffs*5 9q22.32 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC35D2 94 0 50 23 0.315068493150685 TRUE NA +ENSG00000108021.20 . BCM GRCh38.p13 chr10 5747164 5747164 + A A - Frame_Shift_Del DEL ENST00000328090.9 exon15 c.3743delA p.N1249Ifs*2 exonic ENSG00000108021.20 . frameshift deletion ENSG00000108021.20:ENST00000328090.9:exon15:c.3743delA:p.N1249Ifs*2 10p15.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TASOR2 179 0 141 42 0.229508196721311 TRUE TRUE +ENSG00000048740.18 . BCM GRCh38.p13 chr10 11314226 11314226 + C C G Missense_Mutation SNP ENST00000416382.6 exon10 c.C1043G p.T348S exonic ENSG00000048740.18 . nonsynonymous SNV ENSG00000048740.18:ENST00000416382.6:exon10:c.C1043G:p.T348S 10p14 C3N-00320 . . . . . . . . . 7.20 T T B B D D N T N 0.269 T T T 0.087 0.349 0.449 . D T T T D D 1.984 19.130 0.984 D D 0.070 2.770 0.264 3.514 1.000 0.706 0.702 0.710 0.636 . 5.380 5.380 7.568 1.026 0.599 1.000 0.949 0.922 916 . . . . CELF2 288 0 228 89 0.280757097791798 TRUE TRUE +ENSG00000123240.17 . BCM GRCh38.p13 chr10 13109171 13109173 + AGT AGT - In_Frame_Del DEL ENST00000378747.8 exon3 c.49_51del p.S17del exonic ENSG00000123240.17 . nonframeshift deletion ENSG00000123240.17:ENST00000378747.8:exon3:c.49_51del:p.S17del 10p13 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OPTN 357 1 277 66 0.192419825072886 TRUE TRUE +ENSG00000185532.20 . BCM GRCh38.p13 chr10 52282270 52282270 + G G A Missense_Mutation SNP ENST00000401604.8 exon14 c.G1618A p.D540N exonic ENSG00000185532.20 . nonsynonymous SNV ENSG00000185532.20:ENST00000401604.8:exon14:c.G1618A:p.D540N 10q21.1 C3N-00320 8.282e-06 0 0 0 0 1.505e-05 0 0 rs773713867 17.20 D D D D D D H T D 0.987 D D D 0.621 0.933 0.772 1.624 D D T T D D 4.435 31 0.999 D D 1.179 22.006 1.073 24.285 1.000 0.638 0.574 0.653 0.613 . 5.630 5.630 9.994 1.176 0.676 1.000 0.987 0.989 883 cGMP-dependent_protein_kinase,_catalytic_domain;Protein_kinase_domain . . . PRKG1 87 0 83 33 0.28448275862069 TRUE NA +ENSG00000075073.15 . BCM GRCh38.p13 chr10 69416076 69416076 + G G T Missense_Mutation SNP ENST00000373306.5 exon1 c.C248A p.A83D exonic ENSG00000075073.15 . nonsynonymous SNV ENSG00000075073.15:ENST00000373306.5:exon1:c.C248A:p.A83D 10q22.1 C3N-00320 . . . . . . . . . 15.20 D D D D D D M T D 0.873 T T D 0.531 0.656 0.717 1.188 T T D D D D 4.133 28.000 0.998 D D 0.840 9.625 0.779 9.528 1.000 0.497 0.547 0.547 0.542 . 5.180 5.180 10.003 1.176 0.676 1.000 0.803 0.576 643 GPCR,_rhodopsin-like,_7TM . . . TACR2 214 0 155 69 0.308035714285714 TRUE TRUE +ENSG00000108239.9 . BCM GRCh38.p13 chr10 94493436 94493444 + CTAAAAAAC CTAAAAAAC - In_Frame_Del DEL ENST00000225235.5 exon4 c.1283_1291del p.A428_R431delinsG exonic ENSG00000108239.9 . nonframeshift deletion ENSG00000108239.9:ENST00000225235.5:exon4:c.1283_1291del:p.A428_R431delinsG 10q23.33 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D12 190 0 165 34 0.170854271356784 TRUE TRUE +ENSG00000117983.17 . BCM GRCh38.p13 chr11 1244664 1244664 + C C A Missense_Mutation SNP ENST00000529681.5 exon31 c.C7784A p.T2595N exonic ENSG00000117983.17 . nonsynonymous SNV ENSG00000117983.17:ENST00000529681.5:exon31:c.C7784A:p.T2595N 11p15.5 C3N-00320 . . . . . . . . . 1.16 D . . . . N L T N 0.118 T T T 0.071 . 0.043 . T T T T T T 0.790 9.294 0.686 N N -0.532 1.114 -0.788 0.774 0.000 0.554 0.588 0.578 0.563 . 2.160 0.197 -0.618 -0.522 0.327 0.000 0.000 0.001 970 . . . . MUC5B 510 0 348 139 0.285420944558522 NA TRUE +ENSG00000262655.4 . BCM GRCh38.p13 chr11 14255655 14255655 + C C A Missense_Mutation SNP ENST00000576479.4 exon9 c.C1101A p.N367K exonic ENSG00000262655.4 . nonsynonymous SNV ENSG00000262655.4:ENST00000576479.4:exon9:c.C1101A:p.N367K 11p15.2 C3N-00320 8.318e-06 0 0 0.0001 0 0 0 0 rs782513392 7.14 . D D D D . . T . 0.710 T T . 0.349 0.646 0.616 . T T T T D D 3.560 24.900 0.934 D . 0.626 6.199 0.620 6.481 0.735 0.162 0.061 0.175 0.106 0.870 5.680 4.580 2.463 0.130 0.599 1.000 0.999 0.980 706 Spondin,_N-terminal . . . SPON1 98 0 117 19 0.139705882352941 TRUE NA +ENSG00000285283.1 . BCM GRCh38.p13 chr11 31816554 31816554 + G G T Missense_Mutation SNP ENST00000532942.5 exon1 c.G16T p.G6C exonic ENSG00000285283.1 . nonsynonymous SNV ENSG00000285283.1:ENST00000532942.5:exon1:c.G16T:p.G6C 11p13 C3N-00320 . . . . . . . . . 4.14 D D . . . D . T N 0.129 T T T 0.071 0.319 0.234 . . . T T T T 2.536 22.500 0.995 D N -0.323 1.558 -0.216 1.747 1.000 0.598 0.596 0.607 0.639 . 5.280 1.360 0.844 0.164 -0.127 1.000 0.995 0.988 526 . . . . AL035078.4 198 0 137 53 0.278947368421053 TRUE NA +ENSG00000168014.16 . BCM GRCh38.p13 chr11 74095344 74095344 + C C T Missense_Mutation SNP ENST00000334126.11 exon17 c.G3044A p.G1015E exonic ENSG00000168014.16 . nonsynonymous SNV ENSG00000168014.16:ENST00000334126.11:exon17:c.G3044A:p.G1015E 11q13.4 C3N-00320 . . . . . . . . . 15.20 D D D D D D M T D 0.771 T T D 0.642 0.455 0.629 0.567 T T D D D D 3.693 25.400 0.998 D D 0.862 10.105 0.849 11.749 1.000 0.732 0.709 0.609 0.728 . 5.720 5.720 7.695 1.026 0.599 1.000 0.989 0.988 434 C2_domain . . . C2CD3 151 0 151 53 0.259803921568627 TRUE TRUE +ENSG00000187240.16 . BCM GRCh38.p13 chr11 103109762 103109762 + C C A Missense_Mutation SNP ENST00000375735.7 exon1 c.C188A p.S63Y exonic ENSG00000187240.16 . nonsynonymous SNV ENSG00000187240.16:ENST00000375735.7:exon1:c.C188A:p.S63Y 11q22.3 C3N-00320 . . . . . . . . . 10.20 T D D D U D L T N 0.626 T T D 0.279 0.474 0.502 0.079 T T D D D T 2.510 22.400 0.983 D D 0.310 3.829 0.382 4.234 1.000 0.437 0.607 0.520 0.250 . 5.710 5.710 6.441 1.015 0.544 1.000 0.790 0.529 211 . . . . DYNC2H1 46 0 34 10 0.227272727272727 TRUE TRUE +ENSG00000149311.18 . BCM GRCh38.p13 chr11 108250786 108250786 + C C T Nonsense_Mutation SNP ENST00000278616.8 exon10 c.C1321T p.Q441X exonic ENSG00000149311.18 . stopgain ENSG00000149311.18:ENST00000278616.8:exon10:c.C1321T:p.Q441X 11q22.3 C3N-00320 . . . . . . . . . 5.6 . . . . D A . . . 0.951 . . . . . . . . . D D . . 6.302 35 0.998 D N 1.069 16.246 0.928 15.011 1.000 0.732 0.744 0.609 0.714 . 6.080 6.080 5.737 1.026 0.549 1.000 0.936 0.650 126 . . . . ATM 133 0 130 6 0.0441176470588235 TRUE TRUE +ENSG00000048028.11 . BCM GRCh38.p13 chr11 113804977 113804977 + G G C Missense_Mutation SNP ENST00000003302.8 exon20 c.C2470G p.R824G exonic ENSG00000048028.11 . nonsynonymous SNV ENSG00000048028.11:ENST00000003302.8:exon20:c.C2470G:p.R824G 11q23.2 C3N-00320 . . . . . . . . . 15.20 D D D D D D M T D 0.958 T T D 0.514 0.291 0.789 0.830 T T D D D D 4.090 27.700 0.999 D D 0.471 4.818 0.544 5.586 1.000 0.707 0.725 0.725 0.714 . 5.950 5.030 5.525 1.176 0.676 1.000 1.000 0.999 619 . . . . USP28 182 0 118 36 0.233766233766234 TRUE TRUE +ENSG00000184613.10 . BCM GRCh38.p13 chr12 44779742 44779742 + A A G Missense_Mutation SNP ENST00000429094.6 exon5 c.T527C p.V176A exonic ENSG00000184613.10 . nonsynonymous SNV ENSG00000184613.10:ENST00000429094.6:exon5:c.T527C:p.V176A 12q12 C3N-00320 . . . . . . . . . 12.20 D D D P D D M T D 0.507 T T T 0.358 0.368 0.312 0.206 T T D D D T 3.753 25.600 0.999 D D 0.595 5.871 0.613 6.395 0.998 0.706 0.588 0.710 0.564 . 5.280 5.280 7.161 1.312 0.756 1.000 0.997 0.981 748 Laminin_G_domain . . . NELL2 161 0 122 42 0.25609756097561 TRUE TRUE +ENSG00000180881.19 . BCM GRCh38.p13 chr12 75293348 75293348 + A A - Nonsense_Mutation SNP ENST00000409445.7 exon13 c.1121delT p.L374* exonic ENSG00000180881.19 . stopgain ENSG00000180881.19:ENST00000409445.7:exon13:c.1121delT:p.L374* 12q21.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAPS2 251 0 149 76 0.337777777777778 TRUE TRUE +ENSG00000130779.20 . BCM GRCh38.p13 chr12 122341139 122341139 + C C A Missense_Mutation SNP ENST00000620786.4 exon11 c.G2065T p.A689S exonic ENSG00000130779.20 . nonsynonymous SNV ENSG00000130779.20:ENST00000620786.4:exon11:c.G2065T:p.A689S 12q24.31 C3N-00320 . . . . . . . . . 1.20 T T B B N N L T N 0.231 T T T 0.074 0.102 0.288 0.091 T T T T T D 0.864 10.050 0.793 N N -0.738 0.750 -0.680 0.929 0.002 0.707 0.725 0.659 0.714 . 5.610 1.700 -0.124 0.125 0.599 0.013 0.998 0.982 653 . . . . CLIP1 197 0 204 58 0.221374045801527 TRUE TRUE +ENSG00000175820.4 . BCM GRCh38.p13 chr13 102741369 102741369 + G G T Missense_Mutation SNP ENST00000322527.4 exon4 c.C9328A p.H3110N exonic ENSG00000175820.4 . nonsynonymous SNV ENSG00000175820.4:ENST00000322527.4:exon4:c.C9328A:p.H3110N 13q33.1 C3N-00320 . . . . . . . . . 0.4 . . . . . . . . . 0.175 . . . . . 0.085 . T . T T . . -0.618 0.067 0.641 N . . . . . 1.000 0.066 0.060 0.063 0.075 0.048 4.090 -7.660 -0.597 -1.336 -1.598 0.000 0.000 0.098 949 . . . . CCDC168 61 0 66 23 0.258426966292135 TRUE TRUE +ENSG00000134871.19 . BCM GRCh38.p13 chr13 110484961 110484961 + A A T Nonsense_Mutation SNP ENST00000360467.7 exon33 c.A2959T p.K987X exonic ENSG00000134871.19 . stopgain ENSG00000134871.19:ENST00000360467.7:exon33:c.A2959T:p.K987X 13q34 C3N-00320 . . . . . . . . . 3.6 . . . . N A . . . 0.811 . . . . . . . . . D D . . 8.333 42 0.995 N N 0.535 5.322 0.363 4.105 1.000 0.707 0.588 0.269 0.714 . 4.900 4.900 1.024 1.312 0.756 0.993 0.995 0.728 982 . . . . COL4A2 95 0 79 30 0.275229357798165 TRUE TRUE +ENSG00000129538.14 . BCM GRCh38.p13 chr14 20801839 20801839 + T T C Missense_Mutation SNP ENST00000397967.5 exon2 c.A230G p.E77G exonic ENSG00000129538.14 . nonsynonymous SNV ENSG00000129538.14:ENST00000397967.5:exon2:c.A230G:p.E77G 14q11.2 C3N-00320 . . . . . . . . . 9.20 D D D D N N M T D 0.420 T T D 0.239 0.615 0.508 0.718 T T T T D D 3.250 24.000 0.999 N N 0.302 3.791 0.146 2.930 1.000 0.758 0.492 0.692 0.658 . 5.160 5.160 2.395 1.138 0.663 0.342 0.225 0.889 573 Ribonuclease_A-domain . . . RNASE1 308 0 186 15 0.0746268656716418 TRUE TRUE +ENSG00000261794.1 . BCM GRCh38.p13 chr15 30608501 30608501 + A A G Missense_Mutation SNP ENST00000566740.1 exon7 c.A431G p.K144R exonic ENSG00000261794.1 . nonsynonymous SNV ENSG00000261794.1:ENST00000566740.1:exon7:c.A431G:p.K144R 15q13.2 C3N-00320 . . . . . . . . . 1.13 D T . . . N L T N 0.143 . . T . . 0.124 0.013 . T T T . T 0.600 7.509 0.906 N N . . . . 0.000 0.638 0.670 0.618 0.668 . . . 2.156 0.213 0.140 0.814 0.001 0.001 976 . . . . GOLGA8H 656 0 590 178 0.231770833333333 NA TRUE +ENSG00000166069.13 . BCM GRCh38.p13 chr15 37938225 37938225 + C C A Missense_Mutation SNP ENST00000319669.4 exon5 c.C383A p.T128K exonic ENSG00000166069.13 . nonsynonymous SNV ENSG00000166069.13:ENST00000319669.4:exon5:c.C383A:p.T128K 15q14 C3N-00320 . . . . . . . . . 2.19 D T B B N N N . N 0.307 T T T 0.052 0.263 0.143 0.102 T T T T T T 1.194 13.590 0.868 D N -0.698 0.816 -0.531 1.152 0.001 0.487 0.574 0.574 0.542 . 5.100 2.240 0.726 0.127 -0.195 0.953 0.996 0.936 969 . . . . TMCO5A 115 1 93 35 0.2734375 TRUE TRUE +ENSG00000166839.17 . BCM GRCh38.p13 chr15 64949914 64949922 + GAACCCCAG GAACCCCAG - In_Frame_Del DEL ENST00000319580.13 exon14 c.1425_1433del p.E475_S478delinsD exonic ENSG00000166839.17 . nonframeshift deletion ENSG00000166839.17:ENST00000319580.13:exon14:c.1425_1433del:p.E475_S478delinsD 15q22.31 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKDD1A 208 0 163 20 0.109289617486339 TRUE TRUE +ENSG00000067141.17 . BCM GRCh38.p13 chr15 73249716 73249716 + C C T Missense_Mutation SNP ENST00000261908.11 exon11 c.C1889T p.S630L exonic ENSG00000067141.17 . nonsynonymous SNV ENSG00000067141.17:ENST00000261908.11:exon11:c.C1889T:p.S630L 15q24.1 C3N-00320 . . . . . . . . . 16.20 D D D D D D M T D 0.701 T T D 0.583 0.349 0.747 0.693 T D D D D D 4.309 29.700 0.999 D D 0.882 10.597 0.847 11.651 1.000 0.707 0.611 0.725 0.584 . 5.790 5.790 7.675 1.026 0.599 1.000 0.995 0.958 693 Fibronectin_type_III . . . NEO1 43 0 52 24 0.315789473684211 TRUE TRUE +ENSG00000122299.12 . BCM GRCh38.p13 chr16 11763588 11763588 + T T A Missense_Mutation SNP ENST00000355758.9 exon16 c.A1892T p.Q631L exonic ENSG00000122299.12 . nonsynonymous SNV ENSG00000122299.12:ENST00000355758.9:exon16:c.A1892T:p.Q631L 16p13.13 C3N-00320 . . . . . . . . . 12.20 D D P P D D M T D 0.890 T T D 0.375 0.485 0.517 1.324 T T D D D T 4.075 27.500 0.996 D D 0.660 6.595 0.655 6.980 1.000 0.707 0.725 0.725 0.714 . 5.330 5.330 6.128 1.138 0.665 1.000 0.999 0.999 720 Zinc_finger,_CCCH-type . . . ZC3H7A 159 0 115 35 0.233333333333333 TRUE TRUE +ENSG00000177548.13 . BCM GRCh38.p13 chr16 28914575 28914575 + C C - Frame_Shift_Del DEL ENST00000358201.9 exon5 c.555delG p.H186Mfs*28 exonic ENSG00000177548.13 . frameshift deletion ENSG00000177548.13:ENST00000358201.9:exon5:c.555delG:p.H186Mfs*28 16p11.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RABEP2 99 0 54 14 0.205882352941176 TRUE TRUE +ENSG00000102901.13 . BCM GRCh38.p13 chr16 67829972 67829972 + G G T Missense_Mutation SNP ENST00000562787.6 exon12 c.C979A p.H327N exonic ENSG00000102901.13 . nonsynonymous SNV ENSG00000102901.13:ENST00000562787.6:exon12:c.C979A:p.H327N 16q22.1 C3N-00320 . . . . . . . . . 0.20 T T B B N N N T N 0.176 T T T 0.011 0.200 0.288 0.100 T T T T T T 0.249 3.694 0.644 N N -1.106 0.302 -1.170 0.309 0.698 0.732 0.725 0.744 0.714 . 3.930 -1.410 0.157 0.079 0.676 0.000 0.019 0.019 8 Centromere_kinetochore_component_CENP-T,_N-terminal_domain . . . CENPT 375 0 337 48 0.124675324675325 TRUE TRUE +ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673803 7673803 + G G A Missense_Mutation SNP ENST00000269305.8 exon8 c.C817T p.R273C exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.C817T:p.R273C 17p13.1 C3N-00320 8.886e-06 0 0 0 0 1.605e-05 0 0 rs121913343 19.20 D D D D D D M D D 0.973 D D D 0.901 0.987 0.997 0.443 T D D D D D 4.377 31 0.999 D D 0.483 4.906 0.319 3.829 0.520 0.722 0.702 0.725 0.735 . 4.920 3.950 5.730 1.172 0.672 1.000 0.869 0.988 432 p53,_DNA-binding_domain . . ID=COSV52662066;OCCURENCE=3(salivary_gland),68(breast),4(penis),23(liver),1(peritoneum),1(genital_tract),34(oesophagus),5(adrenal_gland),5(cervix),261(large_intestine),256(central_nervous_system),11(biliary_tract),10(vulva),2(pleura),46(ovary),13(bone),1(NS),55(stomach),59(haematopoietic_and_lymphoid_tissue),2(soft_tissue),8(kidney),20(urinary_tract),30(pancreas),13(skin),43(prostate),35(lung),11(thyroid),55(upper_aerodigestive_tract),1(testis),1(eye),7(small_intestine),49(endometrium) TP53 502 0 506 78 0.133561643835616 TRUE TRUE +ENSG00000172156.4 . BCM GRCh38.p13 chr17 34287189 34287189 + G G A Missense_Mutation SNP ENST00000305869.4 exon2 c.G170A p.C57Y exonic ENSG00000172156.4 . nonsynonymous SNV ENSG00000172156.4:ENST00000305869.4:exon2:c.G170A:p.C57Y 17q12 C3N-00320 . . . . . . . . . 18.19 D D D D D D . D D 0.847 D D D 0.713 0.914 0.968 0.046 T D D D D D 3.322 24.200 0.985 D D 0.465 4.772 0.376 4.195 0.001 0.487 0.574 0.574 0.542 . 4.250 4.250 4.226 1.089 0.676 0.988 0.028 0.274 824 CC_chemokine,_conserved_site;Chemokine_interleukin-8-like_domain . . . CCL11 170 0 151 46 0.233502538071066 TRUE TRUE +ENSG00000108773.11 . BCM GRCh38.p13 chr17 42114014 42114014 + A A G Missense_Mutation SNP ENST00000225916.10 exon17 c.T2306C p.I769T exonic ENSG00000108773.11 . nonsynonymous SNV ENSG00000108773.11:ENST00000225916.10:exon17:c.T2306C:p.I769T 17q21.2 C3N-00320 . . . . . . . . . 18.20 D D D D D D H T D 0.951 D T D 0.706 0.848 0.629 2.334 D D D D D D 4.265 29.300 0.998 D D 0.983 13.400 0.857 12.039 1.000 0.706 0.702 0.710 0.714 . 4.790 4.790 9.217 1.312 0.691 1.000 1.000 0.998 319 Bromodomain,_conserved_site;Bromodomain . . . KAT2A 39 0 22 8 0.266666666666667 TRUE TRUE +ENSG00000126581.13 . BCM GRCh38.p13 chr17 42823868 42823868 + A A T Missense_Mutation SNP ENST00000590099.6 exon2 c.T10A p.S4T exonic ENSG00000126581.13 . nonsynonymous SNV ENSG00000126581.13:ENST00000590099.6:exon2:c.T10A:p.S4T 17q21.31 C3N-00320 . . . . . . . . . 3.20 T T B B D N N T N 0.205 T T T 0.037 0.101 0.333 0.418 T T T T D T 2.194 20.800 0.954 D N -0.292 1.635 -0.122 1.987 1.000 0.442 0.522 0.522 0.562 . 5.300 4.190 3.277 1.312 0.756 1.000 0.998 0.964 248 . . . ID=COSV100831112;OCCURENCE=1(skin) BECN1 107 0 96 32 0.25 TRUE TRUE +ENSG00000185231.5 . BCM GRCh38.p13 chr18 13884765 13884765 + C C T Missense_Mutation SNP ENST00000327606.4 exon2 c.G754A p.A252T exonic ENSG00000185231.5 . nonsynonymous SNV ENSG00000185231.5:ENST00000327606.4:exon2:c.G754A:p.A252T 18p11.21 C3N-00320 0.0004 0 0 0.0057 0.0002 1.501e-05 0 0.0001 rs554966392 1.20 T T B B N N N T N 0.095 T T T 0.024 . 0.250 0.187 T T T T T D 1.089 12.660 0.470 N N -0.745 0.738 -0.577 1.081 0.632 0.487 0.563 0.547 0.564 . 5.060 3.260 1.364 0.829 0.599 0.187 0.825 0.714 934 GPCR,_rhodopsin-like,_7TM . . ID=COSV59617946;OCCURENCE=1(breast),1(central_nervous_system) MC2R 418 0 325 48 0.128686327077748 TRUE TRUE +ENSG00000170948.3 . BCM GRCh38.p13 chr19 8843253 8843253 + A A C Missense_Mutation SNP ENST00000595891.1 exon3 c.A575C p.E192A exonic ENSG00000170948.3 . nonsynonymous SNV ENSG00000170948.3:ENST00000595891.1:exon3:c.A575C:p.E192A 19p13.2 C3N-00320 . . . . . . . . . 1.19 D T B B . N L T N 0.158 T T T 0.041 0.110 0.433 0.128 T T T T T T 0.780 9.195 0.945 N N -0.895 0.527 -0.975 0.520 0.000 0.487 0.574 0.547 0.564 . 3.460 1.280 -0.003 0.243 -0.186 0.000 0.005 0.007 958 . . . . MBD3L1 38 0 27 8 0.228571428571429 TRUE TRUE +ENSG00000074181.9 . BCM GRCh38.p13 chr19 15192504 15192504 + C C A Missense_Mutation SNP ENST00000263388.7 exon3 c.G213T p.W71C exonic ENSG00000074181.9 . nonsynonymous SNV ENSG00000074181.9:ENST00000263388.7:exon3:c.G213T:p.W71C 19p13.12 C3N-00320 . . . . . . . . rs28937321 16.19 D D D P . A H D D 0.833 D D D 0.844 0.941 0.985 1.572 T D D D D D 3.641 25.200 0.993 D N 0.333 3.956 0.376 4.194 0.975 0.719 0.574 0.723 0.586 . 5.130 5.130 0.304 0.943 0.596 0.613 0.986 0.774 929 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . NOTCH3 230 0 173 61 0.260683760683761 TRUE NA +ENSG00000011451.21 . BCM GRCh38.p13 chr19 15427145 15427145 + C C A Missense_Mutation SNP ENST00000673675.1 exon9 c.G4203T p.M1401I exonic ENSG00000011451.21 . nonsynonymous SNV ENSG00000011451.21:ENST00000673675.1:exon9:c.G4203T:p.M1401I 19p13.12 C3N-00320 . . . . . . . . . 2.19 T T B B D N . T N 0.547 T T T 0.055 . 0.187 0.565 T T T T T T 1.940 18.800 0.962 D N -0.158 1.997 0.062 2.585 0.005 0.707 0.702 0.723 0.714 . 5.510 5.510 2.601 1.016 0.587 1.000 1.000 0.993 654 . . . . WIZ 318 0 218 84 0.278145695364238 TRUE TRUE +ENSG00000130304.17 . BCM GRCh38.p13 chr19 17486582 17486582 + C C T Missense_Mutation SNP ENST00000252595.12 exon2 c.C187T p.R63C exonic ENSG00000130304.17 . nonsynonymous SNV ENSG00000130304.17:ENST00000252595.12:exon2:c.C187T:p.R63C 19p13.11 C3N-00320 . . . . . . . . . 12.20 D T D P D D M T D 0.672 T T D 0.272 0.611 0.886 0.992 D D T T D D 3.728 25.500 0.999 D N 0.398 4.334 0.316 3.809 0.004 0.701 0.634 0.717 0.655 . 4.920 2.500 1.284 0.933 0.581 0.639 0.181 0.385 940 . . . . SLC27A1 171 0 151 11 0.0679012345679012 TRUE NA +ENSG00000105726.17 . BCM GRCh38.p13 chr19 19655627 19655627 + C C G Missense_Mutation SNP ENST00000357324.11 exon10 c.G1297C p.G433R exonic ENSG00000105726.17 . nonsynonymous SNV ENSG00000105726.17:ENST00000357324.11:exon10:c.G1297C:p.G433R 19p13.11 C3N-00320 . . . . . . . . . 20.20 D D D D D D M D D 0.876 D D D 0.695 0.719 0.757 1.576 D D D D D D 3.818 25.900 0.999 D D 0.449 4.665 0.354 4.047 1.000 0.672 0.702 0.702 0.711 . 4.250 3.200 7.274 0.947 0.599 1.000 0.999 0.991 449 . . . . ATP13A1 176 0 122 46 0.273809523809524 TRUE TRUE +ENSG00000196081.10 . BCM GRCh38.p13 chr19 23223826 23223826 + G G A Missense_Mutation SNP ENST00000418100.6 exon4 c.C419T p.T140I exonic ENSG00000196081.10;ENSG00000283201.1 . nonsynonymous SNV ENSG00000196081.10:ENST00000418100.6:exon4:c.C419T:p.T140I,ENSG00000283201.1:ENST00000611392.5:exon7:c.C401T:p.T134I 19p12 C3N-00320 . . . . . . . . . 2.17 D T P B . N . T D 0.139 T T T 0.050 0.634 0.196 0.490 . T T T T T 0.855 9.949 0.991 N N -0.709 0.797 -0.967 0.531 0.000 0.563 0.546 0.609 0.492 . 0.675 -0.501 1.368 0.447 0.373 0.003 0.158 0.039 988 . . . . ZNF724 127 0 92 19 0.171171171171171 TRUE TRUE +ENSG00000177558.3 . BCM GRCh38.p13 chr19 35228086 35228086 + C C A Nonsense_Mutation SNP ENST00000324675.3 exon1 c.G595T p.E199X exonic ENSG00000177558.3 . stopgain ENSG00000177558.3:ENST00000324675.3:exon1:c.G595T:p.E199X 19q13.12 C3N-00320 . . . . . . . . . 4.6 . . . . N A . . . 0.136 . . . . . . . . . D D . . 7.318 37 0.997 D N 0.658 6.569 0.396 4.329 1.000 0.497 0.547 0.547 0.542 . 5.070 5.070 1.260 1.026 0.599 0.413 0.441 0.040 917 . . . . FAM187B 192 0 159 20 0.111731843575419 TRUE TRUE +ENSG00000118156.12 . BCM GRCh38.p13 chr19 47544359 47544359 + C C A Missense_Mutation SNP ENST00000391901.7 exon3 c.G2170T p.A724S exonic ENSG00000118156.12 . nonsynonymous SNV ENSG00000118156.12:ENST00000391901.7:exon3:c.G2170T:p.A724S 19q13.33 C3N-00320 . . . . . . . . . 0.20 T T B B N N L T N 0.035 T T T 0.043 0.080 0.076 . T T T T T T -1.587 0.001 0.672 N N -2.082 0.006 -2.196 0.005 1.000 0.598 0.590 0.576 0.639 . 5.230 -10.500 -5.053 -3.443 -1.812 0.000 0.000 0.001 824 . . . . ZNF541 317 0 193 75 0.279850746268657 TRUE TRUE +ENSG00000105464.3 . BCM GRCh38.p13 chr19 48404919 48404919 + C C A Missense_Mutation SNP ENST00000263269.3 exon3 c.C651A p.H217Q exonic ENSG00000105464.3 . nonsynonymous SNV ENSG00000105464.3:ENST00000263269.3:exon3:c.C651A:p.H217Q 19q13.33 C3N-00320 . . . . . . . . . 5.20 T T P B D D N T N 0.510 T T D 0.279 0.403 0.854 . D T T T T T 1.333 14.620 0.828 D N -0.117 2.121 -0.026 2.273 1.000 0.632 0.588 0.780 0.580 . 4.940 3.890 0.076 -0.273 0.524 0.569 0.984 0.989 958 Receptor,_ligand_binding_region . . . GRIN2D 115 0 75 33 0.305555555555556 TRUE TRUE +ENSG00000131409.13 . BCM GRCh38.p13 chr19 50519181 50519181 + A A T Missense_Mutation SNP ENST00000652263.1 exon3 c.T532A p.F178I exonic ENSG00000131409.13 . nonsynonymous SNV ENSG00000131409.13:ENST00000652263.1:exon3:c.T532A:p.F178I 19q13.33 C3N-00320 . . . . . . . . . 18.20 D D D D U D M D D 0.946 D D D 0.881 0.744 0.994 2.597 D T D D D D 4.233 29.000 0.991 D D 0.576 5.692 0.503 5.190 0.950 0.696 0.551 0.723 0.568 . 4.050 3.030 9.318 1.312 0.691 1.000 0.996 0.982 716 . . . . LRRC4B 243 0 261 35 0.118243243243243 TRUE TRUE +ENSG00000025772.8 . BCM GRCh38.p13 chr20 44943483 44943483 + G G T Nonsense_Mutation SNP ENST00000372813.4 exon6 c.C795A p.Y265X exonic ENSG00000025772.8 . stopgain ENSG00000025772.8:ENST00000372813.4:exon6:c.C795A:p.Y265X 20q13.12 C3N-00320 . . . . . . . . . 5.6 . . . . D D . . . 0.351 . . . . . . . . . D D . . 7.461 38 0.997 D N 0.601 5.936 0.422 4.517 0.984 0.707 0.702 0.725 0.714 . 5.200 3.260 3.963 1.176 0.676 1.000 0.984 0.781 888 Tetratricopeptide_repeat-containing_domain . . . TOMM34 187 0 138 63 0.313432835820896 TRUE TRUE +ENSG00000156304.15 . BCM GRCh38.p13 chr21 31685196 31685196 + T T C Missense_Mutation SNP ENST00000286835.12 exon19 c.A2341G p.I781V exonic ENSG00000156304.15 . nonsynonymous SNV ENSG00000156304.15:ENST00000286835.12:exon19:c.A2341G:p.I781V 21q22.11 C3N-00320 . . . . . . . . . 2.20 T T B B N D N T N 0.182 T T T 0.127 0.181 0.189 0.197 T T T T T T 1.621 16.510 0.941 D N -0.389 1.407 -0.133 1.955 0.838 0.707 0.725 0.702 0.714 . 5.890 4.680 0.962 1.138 0.658 1.000 1.000 1.000 768 . . . . SCAF4 161 0 106 54 0.3375 TRUE TRUE +ENSG00000069998.12 . BCM GRCh38.p13 chr22 17141168 17141168 + G G C Missense_Mutation SNP ENST00000336737.8 exon6 c.C637G p.L213V exonic ENSG00000069998.12 . nonsynonymous SNV ENSG00000069998.12:ENST00000336737.8:exon6:c.C637G:p.L213V 22q11.1 C3N-00320 . . . . . . . . . 9.19 T D D D D D . T N 0.665 T T T 0.108 0.528 0.341 0.296 T T T T D D 2.468 22.300 0.998 D D 0.436 4.576 0.431 4.588 0.999 0.732 0.725 0.744 0.714 . 5.000 5.000 2.046 1.176 0.676 0.992 0.983 0.985 994 . . . . HDHD5 194 0 137 35 0.203488372093023 TRUE TRUE +ENSG00000070413.20 . BCM GRCh38.p13 chr22 19122182 19122182 + C C A Missense_Mutation SNP ENST00000263196.12 exon1 c.G25T p.A9S exonic ENSG00000070413.20 . nonsynonymous SNV ENSG00000070413.20:ENST00000263196.12:exon1:c.G25T:p.A9S 22q11.21 C3N-00320 . . . . . . . . . 6.20 T T B B D N N D N 0.308 T D D 0.213 0.437 0.861 0.246 D T T T T T 1.858 18.160 0.725 D N -0.768 0.702 -0.608 1.034 1.000 0.733 0.522 0.522 0.622 . 4.650 3.620 1.942 0.930 0.500 1.000 0.972 0.727 735 . . . . DGCR2 143 0 110 30 0.214285714285714 TRUE TRUE +ENSG00000197077.13 . BCM GRCh38.p13 chr22 25039675 25039675 + G G A Missense_Mutation SNP ENST00000358431.7 exon3 c.G2545A p.V849I exonic ENSG00000197077.13 . nonsynonymous SNV ENSG00000197077.13:ENST00000358431.7:exon3:c.G2545A:p.V849I 22q11.23 C3N-00320 . . . . . . . . . 1.19 T D P B N N L . N 0.057 T T T 0.070 0.294 0.048 . T T T T T T -0.938 0.011 0.115 N N -0.892 0.530 -0.957 0.544 0.014 0.657 0.590 0.673 0.636 . 3.980 1.440 -0.754 -0.282 -0.771 0.000 0.001 0.000 934 . . . ID=COSV64450632;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) KIAA1671 21 0 25 7 0.21875 TRUE TRUE +ENSG00000077942.19 . BCM GRCh38.p13 chr22 45543430 45543430 + C C A Missense_Mutation SNP ENST00000327858.11 exon11 c.C1225A p.R409S exonic ENSG00000077942.19 . nonsynonymous SNV ENSG00000077942.19:ENST00000327858.11:exon11:c.C1225A:p.R409S 22q13.31 C3N-00320 . . . . . . . . . 18.20 D D D D D D N D D 0.851 D D D 0.814 0.664 0.851 1.022 T D D D D D 3.692 25.400 0.998 D D 0.337 3.975 0.426 4.551 1.000 0.707 0.563 0.725 0.568 . 5.130 5.130 7.797 1.026 0.599 1.000 0.966 0.700 900 EGF-like_domain;EGF-like_calcium-binding_domain . . . FBLN1 570 1 386 138 0.263358778625954 TRUE NA +ENSG00000204271.13 . BCM GRCh38.p13 chrX 56994253 56994253 + A A G Missense_Mutation SNP ENST00000374919.6 exon2 c.T695C p.V232A exonic ENSG00000204271.13 . nonsynonymous SNV ENSG00000204271.13:ENST00000374919.6:exon2:c.T695C:p.V232A Xp11.21 C3N-00320 . . . . . . . . . 9.19 D T D D U D M T D 0.562 T T D 0.376 0.817 0.577 1.515 T T T T D T 3.135 23.700 0.997 D . . . . . 1.000 . . . . . 2.720 2.720 5.516 0.795 0.756 1.000 0.999 0.899 264 . . . . SPIN3 77 0 42 52 0.553191489361702 TRUE TRUE +ENSG00000184634.16 . BCM GRCh38.p13 chrX 71119861 71119861 + C C T Missense_Mutation SNP ENST00000374080.8 exon3 c.C380T p.T127M exonic ENSG00000184634.16 . nonsynonymous SNV ENSG00000184634.16:ENST00000374080.8:exon3:c.C380T:p.T127M Xq13.1 C3N-00320 2.415e-05 0 0 0 0 0 0 0.0002 rs775072642 7.19 T T D D D D N T N 0.215 T T D 0.219 . 0.916 1.490 T T T T T D 2.970 23.300 0.988 D . . . . . 1.000 . . . . . 5.730 4.860 6.101 1.022 0.596 1.000 0.998 0.979 519 Mediator_complex,_subunit_Med12 . . ID=COSV100376700;OCCURENCE=1(endometrium) MED12 129 0 61 44 0.419047619047619 TRUE NA +ENSG00000184634.16 . BCM GRCh38.p13 chrX 71119866 71119866 + C C A Missense_Mutation SNP ENST00000374080.8 exon3 c.C385A p.L129I exonic ENSG00000184634.16 . nonsynonymous SNV ENSG00000184634.16:ENST00000374080.8:exon3:c.C385A:p.L129I Xq13.1 C3N-00320 . . . . . . . . . 15.19 D D D D D D M D N 0.653 T T D 0.703 0.753 0.976 2.123 D T D D D D 2.946 23.300 0.994 D . . . . . 1.000 . . . . . 5.730 2.880 1.712 1.022 0.596 1.000 0.997 0.976 519 Mediator_complex,_subunit_Med12 . . . MED12 147 2 68 55 0.447154471544715 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142189 10142189 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon1:c.340+2T>A . . 3p25.3 C3N-00320 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.867 35 0.979 D . 0.945 12.264 0.764 9.152 1.000 0.076 0.090 0.050 0.088 0.595 5.080 3.930 5.006 0.971 0.515 1.000 0.775 0.597 364 . . . ID=COSV56551713;OCCURENCE=4(kidney),1(pancreas) VHL 283 0 114 66 0.366666666666667 TRUE TRUE +ENSG00000138614.15 . BCM GRCh38.p13 chr15 65598320 65598320 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000138614.15 ENST00000313182.6:exon6:c.748+1G>A . . 15q22.31 C3N-00320 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.274 29.300 0.993 D . 1.128 18.832 0.987 18.059 1.000 0.295 0.304 0.121 0.243 0.987 5.860 5.860 5.797 1.026 0.599 1.000 0.974 0.777 610 . . . . INTS14 89 1 67 31 0.316326530612245 TRUE TRUE +ENSG00000133216.16 . BCM GRCh38.p13 chr1 22892931 22892931 + G G A Silent SNP ENST00000400191.7 exon7 c.G1476A p.T492T exonic ENSG00000133216.16 . synonymous SNV ENSG00000133216.16:ENST00000400191.7:exon7:c.G1476A:p.T492T 1p36.12 C3N-00320 5.769e-05 0.0002 0 0 0 5.998e-05 0.0011 0 rs370664820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101007604;OCCURENCE=1(stomach) EPHB2 474 0 354 132 0.271604938271605 TRUE NA +ENSG00000052723.12 . BCM GRCh38.p13 chr1 114774346 114774346 + T T C Silent SNP ENST00000060969.6 exon5 c.A549G p.L183L exonic ENSG00000052723.12 . synonymous SNV ENSG00000052723.12:ENST00000060969.6:exon5:c.A549G:p.L183L 1p13.2 C3N-00320 . . . . . . . . rs963804130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIKE1 130 0 116 34 0.226666666666667 TRUE NA +ENSG00000144045.14 . BCM GRCh38.p13 chr2 74523140 74523140 + G G T Silent SNP ENST00000404568.4 exon6 c.C1123A p.R375R exonic ENSG00000144045.14 . synonymous SNV ENSG00000144045.14:ENST00000404568.4:exon6:c.C1123A:p.R375R 2p13.1 C3N-00320 1.647e-05 0 0 0 0 2.997e-05 0 0 rs150420269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DQX1 195 0 143 59 0.292079207920792 TRUE TRUE +ENSG00000168702.18 . BCM GRCh38.p13 chr2 140776204 140776204 + G G A Silent SNP ENST00000389484.8 exon33 c.C5394T p.A1798A exonic ENSG00000168702.18 . synonymous SNV ENSG00000168702.18:ENST00000389484.8:exon33:c.C5394T:p.A1798A 2q22.1 C3N-00320 8.258e-06 0 8.688e-05 0 0 0 0 0 rs754226036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP1B 186 0 146 80 0.353982300884956 TRUE NA +ENSG00000146457.16 . BCM GRCh38.p13 chr6 159755416 159755416 + C C A Silent SNP ENST00000621533.5 exon8 c.C996A p.L332L exonic ENSG00000146457.16 . synonymous SNV ENSG00000146457.16:ENST00000621533.5:exon8:c.C996A:p.L332L 6q25.3 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WTAP 183 0 94 63 0.401273885350318 TRUE TRUE +ENSG00000006377.11 . BCM GRCh38.p13 chr7 97009916 97009916 + C C T Silent SNP ENST00000518156.3 exon3 c.C751T p.L251L exonic ENSG00000006377.11 . synonymous SNV ENSG00000006377.11:ENST00000518156.3:exon3:c.C751T:p.L251L 7q21.3 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DLX6 318 0 286 86 0.231182795698925 TRUE NA +ENSG00000170379.20 . BCM GRCh38.p13 chr7 143727666 143727666 + A A G Silent SNP ENST00000441159.7 exon7 c.A2759G p.X920X exonic ENSG00000170379.20 . synonymous SNV ENSG00000170379.20:ENST00000441159.7:exon7:c.A2759G:p.X920X 7q35 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCAF2 18 0 21 8 0.275862068965517 NA TRUE +ENSG00000083168.11 . BCM GRCh38.p13 chr8 41933738 41933738 + G G A Silent SNP ENST00000265713.8 exon17 c.C4482T p.V1494V exonic ENSG00000083168.11 . synonymous SNV ENSG00000083168.11:ENST00000265713.8:exon17:c.C4482T:p.V1494V 8p11.21 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55904223;OCCURENCE=2(skin) KAT6A 173 0 138 71 0.339712918660287 TRUE TRUE +ENSG00000186130.5 . BCM GRCh38.p13 chr9 122911446 122911446 + G G A Silent SNP ENST00000373659.4 exon2 c.C627T p.D209D exonic ENSG00000186130.5 . synonymous SNV ENSG00000186130.5:ENST00000373659.4:exon2:c.C627T:p.D209D 9q33.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBTB6 165 1 146 46 0.239583333333333 TRUE TRUE +ENSG00000181903.5 . BCM GRCh38.p13 chr11 55665817 55665817 + G G T Silent SNP ENST00000641251.1 exon1 c.G651T p.T217T exonic ENSG00000181903.5 . synonymous SNV ENSG00000181903.5:ENST00000641251.1:exon1:c.G651T:p.T217T 11q11 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58605361;OCCURENCE=2(lung) OR4C6 276 0 241 72 0.230031948881789 TRUE TRUE +ENSG00000140015.20 . BCM GRCh38.p13 chr14 62779824 62779824 + G G A Silent SNP ENST00000322893.12 exon10 c.C1923T p.I641I exonic ENSG00000140015.20 . synonymous SNV ENSG00000140015.20:ENST00000322893.12:exon10:c.C1923T:p.I641I 14q23.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH5 161 0 79 46 0.368 TRUE TRUE +ENSG00000156886.12 . BCM GRCh38.p13 chr16 31410791 31410791 + C C T Silent SNP ENST00000389202.3 exon12 c.C1269T p.A423A exonic ENSG00000156886.12 . synonymous SNV ENSG00000156886.12:ENST00000389202.3:exon12:c.C1269T:p.A423A 16p11.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGAD 185 0 115 37 0.243421052631579 NA TRUE +ENSG00000132600.16 . BCM GRCh38.p13 chr16 68346184 68346184 + G G T Silent SNP ENST00000339507.9 exon11 c.G1095T p.V365V exonic ENSG00000132600.16 . synonymous SNV ENSG00000132600.16:ENST00000339507.9:exon11:c.G1095T:p.V365V 16q22.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRMT7 269 0 199 70 0.260223048327138 TRUE TRUE +ENSG00000072310.17 . BCM GRCh38.p13 chr17 17817350 17817350 + G G A Silent SNP ENST00000261646.10 exon8 c.C1512T p.A504A exonic ENSG00000072310.17 . synonymous SNV ENSG00000072310.17:ENST00000261646.10:exon8:c.C1512T:p.A504A 17p11.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SREBF1 118 0 83 12 0.126315789473684 TRUE TRUE +ENSG00000141750.7 . BCM GRCh38.p13 chr17 39218114 39218114 + C C T Silent SNP ENST00000333461.6 exon2 c.G150A p.E50E exonic ENSG00000141750.7 . synonymous SNV ENSG00000141750.7:ENST00000333461.6:exon2:c.G150A:p.E50E 17q12 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAC2 228 0 180 48 0.210526315789474 TRUE TRUE +ENSG00000101624.11 . BCM GRCh38.p13 chr18 12678331 12678331 + T T A Silent SNP ENST00000262127.7 exon10 c.A1401T p.G467G exonic ENSG00000101624.11 . synonymous SNV ENSG00000101624.11:ENST00000262127.7:exon10:c.A1401T:p.G467G 18p11.21 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEP76 239 0 215 70 0.245614035087719 TRUE TRUE +ENSG00000275395.6 . BCM GRCh38.p13 chr19 39899653 39899653 + C C A Silent SNP ENST00000616721.6 exon10 c.G4830T p.T1610T exonic ENSG00000275395.6 . synonymous SNV ENSG00000275395.6:ENST00000616721.6:exon10:c.G4830T:p.T1610T 19q13.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FCGBP 701 0 589 89 0.131268436578171 NA TRUE +ENSG00000204611.7 . BCM GRCh38.p13 chr19 52116717 52116717 + A A T Silent SNP ENST00000600228.6 exon4 c.T447A p.A149A exonic ENSG00000204611.7 . synonymous SNV ENSG00000204611.7:ENST00000600228.6:exon4:c.T447A:p.A149A 19q13.41 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF616 209 0 192 57 0.228915662650602 TRUE TRUE +ENSG00000101190.13 . BCM GRCh38.p13 chr20 62860212 62860212 + A A G Silent SNP ENST00000335351.8 exon2 c.T744C p.A248A exonic ENSG00000101190.13 . synonymous SNV ENSG00000101190.13:ENST00000335351.8:exon2:c.T744C:p.A248A 20q13.33 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCFL5 157 0 97 38 0.281481481481481 TRUE TRUE +ENSG00000182670.13 . BCM GRCh38.p13 chr21 37192195 37192195 + A A G Silent SNP ENST00000399017.6 exon41 c.A5199G p.S1733S exonic ENSG00000182670.13 . synonymous SNV ENSG00000182670.13:ENST00000399017.6:exon41:c.A5199G:p.S1733S 21q22.13 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61294466;OCCURENCE=1(large_intestine) TTC3 88 0 87 13 0.13 TRUE TRUE +ENSG00000157540.21 . BCM GRCh38.p13 chr21 37490326 37490326 + A A G Silent SNP ENST00000339659.9 exon6 c.A816G p.A272A exonic ENSG00000157540.21 . synonymous SNV ENSG00000157540.21:ENST00000339659.9:exon6:c.A816G:p.A272A 21q22.13 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100117899;OCCURENCE=1(central_nervous_system) DYRK1A 291 0 219 86 0.281967213114754 TRUE TRUE +ENSG00000162594.16 . BCM GRCh38.p13 chr1 67207174 67207174 + G G A Intron SNP NA NA NA NA intronic ENSG00000162594.16;ENSG00000203963.11 . . . 1p31.3 C3N-00320 0 0 0 0 0 0 0 0 rs772273790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL23R 102 0 87 12 0.121212121212121 TRUE NA +ENSG00000143183.16 . BCM GRCh38.p13 chr1 165725972 165725972 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000143183.16 ENST00000612311.4:c.*2051A>G . . 1q24.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMCO1 186 0 175 10 0.0540540540540541 TRUE NA +ENSG00000151779.13 . BCM GRCh38.p13 chr2 15393688 15393688 + A A T Intron SNP NA NA NA NA intronic ENSG00000151779.13 . . . 2p24.3 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NBAS 143 0 121 28 0.187919463087248 TRUE TRUE +ENSG00000119729.12 . BCM GRCh38.p13 chr2 46560626 46560639 + TCCAGTGGCCAGGA TCCAGTGGCCAGGA - Intron DEL NA NA NA NA intronic ENSG00000119729.12 . . . 2p21 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RHOQ 160 0 180 35 0.162790697674419 TRUE NA +ENSG00000127399.15 . BCM GRCh38.p13 chr7 150323548 150323548 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000127399.15 ENST00000359623.9:c.-13314C>T . . 7q36.1 C3N-00320 . . . . . . . . . 5.13 D D . . . N . D N . D D . 0.114 0.297 0.547 . . . T T T T 0.338 4.726 0.908 N N -0.919 0.497 -1.129 0.347 1.000 0.455 0.522 0.522 0.568 . 2.750 -1.750 -1.754 -0.587 -0.280 0.000 0.000 0.004 940 . . . . LRRC61 102 0 71 38 0.348623853211009 TRUE NA +ENSG00000106701.12 . BCM GRCh38.p13 chr9 105472047 105472047 + - NA A Intron SNP NA NA NA NA intronic ENSG00000106701.12 . . . 9q31.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FSD1L NA NA NA NA NA NA NA +ENSG00000239539.1 . BCM GRCh38.p13 chr10 19489121 19489121 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000239539.1 . . . 10p12.31 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMGN1P20 170 0 129 49 0.275280898876405 TRUE TRUE +ENSG00000240707.3 . BCM GRCh38.p13 chr10 133073178 133073178 + C C T IGR SNP NA NA NA NA intergenic ENSG00000240707.3;ENSG00000256925.3 dist=96824;dist=10302 . . 10q26.3 C3N-00320 2.141e-05 0 0.0002 0 0 0 0 0 rs755811625 1.13 . . B B U . . . . 0.074 T T T 0.026 0.163 0.043 . T . T T D T -0.816 0.023 0.528 N N -1.602 0.055 -1.748 0.042 0.000 0.056 0.063 0.072 0.063 . 1.700 -3.400 -1.707 -3.402 -1.674 0.000 0.000 0.000 988 . . . ID=COSV74142839;OCCURENCE=1(large_intestine) LINC01168 45 0 37 12 0.244897959183673 TRUE TRUE +ENSG00000160226.16 . BCM GRCh38.p13 chr21 44330562 44330562 + G G A Intron SNP NA NA NA NA intronic ENSG00000160226.16 . . . 21q22.3 C3N-00320 0.0001 0 0 0 0 0.0002 0 0.0001 rs748118167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP410 126 0 81 29 0.263636363636364 TRUE NA +ENSG00000171502.15 . BCM GRCh38.p13 chr1 85849382 85849383 + GA GA TG Unknown MNP ENST00000370571.7 exon38 c.3324_3325delinsCA p.P1109T exonic ENSG00000171502.15 . nonframeshift substitution ENSG00000171502.15:ENST00000370571.7:exon38:c.3324_3325delinsCA:p.P1109T 1p22.3 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL24A1 140 1 128 34 0.209876543209877 TRUE TRUE +ENSG00000165995.21 . BCM GRCh38.p13 chr10 18527685 18527686 + AG AG GA Unknown MNP ENST00000324631.13 exon10 c.1042_1043delinsGA p.R348E exonic ENSG00000165995.21 . nonframeshift substitution ENSG00000165995.21:ENST00000324631.13:exon10:c.1042_1043delinsGA:p.R348E 10p12.31 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNB2 287 0 302 93 0.235443037974684 TRUE TRUE +ENSG00000130787.14 . BCM GRCh38.p13 chr12 122848597 122848598 + GG GG TT Unknown MNP ENST00000253083.9 exon3 c.289_290delinsTT p.G97L exonic ENSG00000130787.14 . nonframeshift substitution ENSG00000130787.14:ENST00000253083.9:exon3:c.289_290delinsTT:p.G97L 12q24.31 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIP1R 71 0 40 18 0.310344827586207 TRUE TRUE +ENSG00000197102.12 . BCM GRCh38.p13 chr14 102030234 102030236 + AAA AAA TAG Unknown MNP ENST00000360184.10 exon51 c.9835_9837delinsTAG p.K3279_E4646del exonic ENSG00000197102.12 . stopgain ENSG00000197102.12:ENST00000360184.10:exon51:c.9835_9837delinsTAG:p.K3279_E4646del 14q32.31 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNC1H1 283 0 256 91 0.262247838616715 TRUE TRUE +ENSG00000004660.15 . BCM GRCh38.p13 chr17 3862220 3862221 + AG AG TA Unknown MNP ENST00000348335.7 exon16 c.1508_1509delinsTA p.A503V exonic ENSG00000004660.15 . nonframeshift substitution ENSG00000004660.15:ENST00000348335.7:exon16:c.1508_1509delinsTA:p.A503V 17p13.2 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMKK1 163 0 104 33 0.240875912408759 TRUE TRUE +ENSG00000109063.15 . BCM GRCh38.p13 chr17 10639437 10639438 + TC TC AA Unknown MNP ENST00000583535.6 exon24 c.2962_2963delinsTT p.E988L exonic ENSG00000109063.15 . nonframeshift substitution ENSG00000109063.15:ENST00000583535.6:exon24:c.2962_2963delinsTT:p.E988L 17p13.1 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH3 218 0 200 71 0.261992619926199 TRUE TRUE +ENSG00000054523.17 . BCM GRCh38.p13 chr1 10303239 10303240 + GA GA TG Unknown MNP NA NA NA NA intronic ENSG00000054523.17 . . . 1p36.22 C3N-00320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF1B 209 0 172 55 0.242290748898678 TRUE NA +ENSG00000060688.13 . BCM GRCh38.p13 chr1 31267893 31267893 + T T C Missense_Mutation SNP ENST00000263694.9 exon8 c.A898G p.I300V exonic ENSG00000060688.13 . nonsynonymous SNV ENSG00000060688.13:ENST00000263694.9:exon8:c.A898G:p.I300V 1p35.2 C3N-00380 . . . . . . . . rs953836038 5.20 T T B B D D N T N 0.328 T T T 0.093 0.621 0.223 0.486 T T T T T D 1.915 18.600 0.998 D D -0.232 1.787 0.023 2.440 0.972 0.707 0.654 0.725 0.714 . 5.650 5.650 4.576 1.138 0.665 1.000 1.000 1.000 888 WD40_repeat,_conserved_site;WD40-repeat-containing_domain . . . SNRNP40 159 0 149 46 0.235897435897436 TRUE NA +ENSG00000121769.8 . BCM GRCh38.p13 chr1 31369418 31369418 + - NA A Frame_Shift_Ins INS ENST00000373713.7 exon2 c.212dupT p.D72Rfs*2 exonic ENSG00000121769.8 . frameshift insertion ENSG00000121769.8:ENST00000373713.7:exon2:c.212dupT:p.D72Rfs*2 1p35.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FABP3 NA NA NA NA NA NA NA +ENSG00000158966.16 . BCM GRCh38.p13 chr1 64666077 64666077 + A A G Missense_Mutation SNP ENST00000651257.2 exon16 c.A2297G p.N766S exonic ENSG00000158966.16 . nonsynonymous SNV ENSG00000158966.16:ENST00000651257.2:exon16:c.A2297G:p.N766S 1p31.3 C3N-00380 . . . . . . . . . 6.16 T T . . D D . T N 0.603 T T T 0.160 . 0.235 0.329 T . T T D D 3.339 24.200 0.998 D D 0.700 7.120 0.727 8.282 1.000 0.732 0.574 0.744 0.655 . 5.660 5.660 8.827 1.312 0.756 1.000 0.988 0.963 758 . . . . CACHD1 83 0 38 21 0.355932203389831 TRUE TRUE +ENSG00000198952.8 . BCM GRCh38.p13 chr1 156260530 156260530 + C C G Missense_Mutation SNP ENST00000361813.5 exon15 c.G2204C p.R735P exonic ENSG00000198952.8 . nonsynonymous SNV ENSG00000198952.8:ENST00000361813.5:exon15:c.G2204C:p.R735P 1q22 C3N-00380 . . . . . . . . . 12.20 T T D D D D M T D 0.958 T T T 0.308 0.326 0.758 1.201 T T D D D D 3.704 25.400 0.997 D D 0.581 5.737 0.552 5.670 1.000 0.707 0.702 0.702 0.714 . 5.120 5.120 7.340 1.026 0.599 1.000 0.888 0.726 290 DNA/RNA-binding_domain,_Est1-type . . . SMG5 59 0 89 12 0.118811881188119 TRUE TRUE +ENSG00000042781.14 . BCM GRCh38.p13 chr1 215790196 215790196 + T T A Nonsense_Mutation SNP ENST00000307340.8 exon51 c.A10045T p.K3349X exonic ENSG00000042781.14 . stopgain ENSG00000042781.14:ENST00000307340.8:exon51:c.A10045T:p.K3349X 1q41 C3N-00380 . . . . . . . . . 4.6 . . . . N A . . . 0.845 . . . . . . . . . D D . . 8.260 42 0.995 D N 0.797 8.712 0.679 7.369 0.973 0.487 0.574 0.547 0.564 . 5.630 5.630 2.068 1.138 0.665 1.000 1.000 0.998 568 Fibronectin_type_III . . . USH2A 313 0 212 41 0.162055335968379 TRUE TRUE +ENSG00000176407.18 . BCM GRCh38.p13 chr2 85053370 85053370 + G G C Missense_Mutation SNP ENST00000409785.9 exon7 c.G1107C p.E369D exonic ENSG00000176407.18 . nonsynonymous SNV ENSG00000176407.18:ENST00000409785.9:exon7:c.G1107C:p.E369D 2p11.2 C3N-00380 . . . . . . . . . 8.20 D D P P D D L T N 0.447 T T T 0.217 0.050 0.298 0.721 T T T T D D 3.159 23.800 0.998 D D 0.725 7.477 0.771 9.306 1.000 0.707 0.725 0.702 0.714 . 6.070 6.070 7.508 1.176 0.618 1.000 1.000 0.999 585 . . . . KCMF1 116 0 129 27 0.173076923076923 TRUE TRUE +ENSG00000168763.16 . BCM GRCh38.p13 chr2 96817260 96817260 + A A T Missense_Mutation SNP ENST00000305510.4 exon1 c.A983T p.D328V exonic ENSG00000168763.16 . nonsynonymous SNV ENSG00000168763.16:ENST00000305510.4:exon1:c.A983T:p.D328V 2q11.2 C3N-00380 . . . . . . . . . 12.20 T T D P N D H T D 0.615 D D D 0.654 0.597 0.492 . T T D D D D 3.114 23.700 0.981 D N 0.217 3.378 0.152 2.958 1.000 0.726 0.594 0.594 0.604 . 4.440 4.440 2.457 1.228 0.658 0.984 0.985 0.981 132 CBS_domain . . . CNNM3 126 0 122 27 0.181208053691275 TRUE TRUE +ENSG00000168542.16 . BCM GRCh38.p13 chr2 189003756 189003756 + C C T Missense_Mutation SNP ENST00000304636.9 exon38 c.C2630T p.A877V exonic ENSG00000168542.16 . nonsynonymous SNV ENSG00000168542.16:ENST00000304636.9:exon38:c.C2630T:p.A877V 2q32.2 C3N-00380 . . . . . . . . . 11.20 D T P P N D L D N 0.291 D D D 0.407 0.489 0.776 0.625 T D T T D D 2.521 22.500 0.986 D D -0.410 1.360 -0.437 1.308 0.909 0.554 0.574 0.618 0.568 . 5.500 0.223 1.532 -0.891 -0.230 0.791 0.956 0.987 839 . . . . COL3A1 202 0 285 49 0.146706586826347 TRUE TRUE +ENSG00000078018.20 . BCM GRCh38.p13 chr2 209694127 209694127 + A A C Missense_Mutation SNP ENST00000360351.8 exon7 c.A1957C p.S653R exonic ENSG00000078018.20 . nonsynonymous SNV ENSG00000078018.20:ENST00000360351.8:exon7:c.A1957C:p.S653R 2q34 C3N-00380 . . . . . . . . . 11.20 D D D D D D M T N 0.494 T T T 0.171 0.355 0.202 0.376 T T T T D D 3.676 25.300 0.998 D D 0.743 7.764 0.755 8.930 0.999 0.615 0.547 0.618 0.655 . 6.160 6.160 2.950 1.312 0.756 0.991 1.000 1.000 824 MAP2/Tau_projection . . . MAP2 106 0 130 27 0.171974522292994 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142041 10142041 + C C T Missense_Mutation SNP ENST00000256474.3 exon1 c.C194T p.S65L exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.C194T:p.S65L 3p25.3 C3N-00380 . . . . . . . . rs5030826 16.20 T D P B N D M D D 0.958 D D D 0.782 0.820 0.996 1.009 D D D D D D 3.465 24.600 0.999 D D 0.314 3.850 0.299 3.714 1.000 0.442 0.522 0.522 0.562 . 5.540 4.670 4.919 0.877 0.521 0.998 0.979 0.215 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543026;OCCURENCE=24(kidney) VHL 224 0 204 56 0.215384615384615 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52609764 52609764 + T T - Frame_Shift_Del DEL ENST00000296302.11 exon16 c.2116delA p.M706Wfs*8 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon16:c.2116delA:p.M706Wfs*8 3p21.1 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 70 0 47 27 0.364864864864865 TRUE TRUE +ENSG00000144744.17 . BCM GRCh38.p13 chr3 69063501 69063501 + A A G Missense_Mutation SNP ENST00000361055.9 exon8 c.T475C p.F159L exonic ENSG00000144744.17 . nonsynonymous SNV ENSG00000144744.17:ENST00000361055.9:exon8:c.T475C:p.F159L 3p14.1 C3N-00380 . . . . . . . . . 15.20 D D D D D D M T D 0.880 T T D 0.533 0.653 0.531 0.860 T T D D D D 4.138 28.100 0.999 D D 0.846 9.759 0.825 10.891 1.000 0.732 0.744 0.744 0.728 . 5.690 5.690 9.294 1.295 0.756 1.000 0.998 0.974 374 THIF-type_NAD/FAD_binding_fold . . . UBA3 111 0 36 9 0.2 TRUE TRUE +ENSG00000170854.18 . BCM GRCh38.p13 chr3 97967425 97967425 + C C T Missense_Mutation SNP ENST00000394198.7 exon2 c.G169A p.E57K exonic ENSG00000170854.18 . nonsynonymous SNV ENSG00000170854.18:ENST00000394198.7:exon2:c.G169A:p.E57K 3q11.2 C3N-00380 . . . . . . . . . 8.19 D T P P D D . T D 0.356 T T T 0.141 0.534 0.474 0.087 T T T T D D 2.967 23.300 0.999 D D 0.336 3.972 0.440 4.656 1.000 0.707 0.725 0.659 0.632 . 5.920 5.920 3.388 1.026 0.599 1.000 0.999 0.991 793 JmjC_domain . . . RIOX2 176 0 214 42 0.1640625 TRUE TRUE +ENSG00000153002.12 . BCM GRCh38.p13 chr3 148834498 148834498 + A A C Missense_Mutation SNP ENST00000282957.9 exon3 c.A148C p.I50L exonic ENSG00000153002.12 . nonsynonymous SNV ENSG00000153002.12:ENST00000282957.9:exon3:c.A148C:p.I50L 3q24 C3N-00380 . . . . . . . . . 2.20 T T B B N D N T N 0.184 T T T 0.050 0.407 0.158 0.196 T T T T T T 1.460 15.480 0.779 D N -0.726 0.769 -0.525 1.162 0.000 0.487 0.574 0.547 0.542 . 4.790 0.240 0.513 -0.074 -0.190 0.997 0.988 0.860 505 Carboxypeptidase,_activation_peptide . . . CPB1 137 1 85 25 0.227272727272727 TRUE TRUE +ENSG00000178772.7 . BCM GRCh38.p13 chr3 194341333 194341333 + G G A Missense_Mutation SNP ENST00000323830.4 exon2 c.C1370T p.T457M exonic ENSG00000178772.7 . nonsynonymous SNV ENSG00000178772.7:ENST00000323830.4:exon2:c.C1370T:p.T457M 3q29 C3N-00380 0.0001 9.771e-05 0.0003 0 0 9.081e-05 0 0.0004 rs143969370 1.20 T D P B N N N T N 0.155 T T T 0.038 . 0.556 0.188 T T T T T T 1.098 12.750 0.909 N N -0.911 0.507 -0.953 0.550 0.998 0.497 0.590 0.616 0.542 . 5.020 0.577 2.249 -0.479 -0.106 0.367 0.001 0.004 889 . . . ID=COSV60470203;OCCURENCE=2(large_intestine),1(stomach) CPN2 173 0 212 50 0.190839694656489 TRUE TRUE +ENSG00000152990.14 . BCM GRCh38.p13 chr4 22424205 22424205 + G G A Missense_Mutation SNP ENST00000334304.10 exon11 c.C1591T p.H531Y exonic ENSG00000152990.14 . nonsynonymous SNV ENSG00000152990.14:ENST00000334304.10:exon11:c.C1591T:p.H531Y 4p15.2 C3N-00380 . . . . . . . . . 6.19 D T B B N D . T N 0.440 T T T 0.095 0.378 0.043 0.155 T T T T D D 2.905 23.200 0.976 D D -0.161 1.989 0.021 2.433 0.989 0.707 0.588 0.725 0.714 . 5.520 4.670 7.616 1.172 0.676 1.000 0.521 0.733 827 . . . . ADGRA3 72 0 85 19 0.182692307692308 TRUE TRUE +ENSG00000171509.16 . BCM GRCh38.p13 chr4 158651971 158651976 + TGAGTT TGAGTT - In_Frame_Del DEL ENST00000307765.10 exon18 c.2190_2195del p.E731_L732del exonic ENSG00000171509.16 . nonframeshift deletion ENSG00000171509.16:ENST00000307765.10:exon18:c.2190_2195del:p.E731_L732del 4q32.1 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RXFP1 162 0 146 38 0.206521739130435 TRUE TRUE +ENSG00000135074.16 . BCM GRCh38.p13 chr5 157505799 157505799 + C C T Missense_Mutation SNP ENST00000517905.1 exon11 c.G1000A p.E334K exonic ENSG00000135074.16 . nonsynonymous SNV ENSG00000135074.16:ENST00000517905.1:exon11:c.G1000A:p.E334K 5q33.3 C3N-00380 8.451e-06 0 0 0 0 1.532e-05 0 0 rs768825848 12.20 D D D P N D L D D 0.502 D D D 0.412 . 0.888 0.929 T T D T D T 3.900 26.300 0.999 D N 0.421 4.474 0.515 5.294 1.000 0.646 0.696 0.805 0.662 . 5.910 5.910 3.275 1.026 0.599 0.994 0.989 0.966 826 Peptidase_M12B,_ADAM/reprolysin;Reprolysin_domain,_adamalysin-type . . . ADAM19 68 0 75 18 0.193548387096774 TRUE NA +ENSG00000204574.13 . BCM GRCh38.p13 chr6 30586495 30586495 + G G T Missense_Mutation SNP ENST00000326195.13 exon19 c.G1907T p.G636V exonic ENSG00000204574.13 . nonsynonymous SNV ENSG00000204574.13:ENST00000326195.13:exon19:c.G1907T:p.G636V 6p21.33 C3N-00380 . . . . . . . . . 13.19 D T P B N D M D D 0.535 D D D 0.661 0.574 0.945 1.428 T T D D D . 3.415 24.400 0.996 D D 0.519 5.184 0.500 5.154 1.000 0.707 0.702 0.702 0.714 . 4.880 4.880 5.207 1.176 0.676 1.000 0.905 0.898 804 ABC_transporter-like . . . ABCF1 151 0 195 30 0.133333333333333 TRUE TRUE +ENSG00000244067.3 . BCM GRCh38.p13 chr6 52755035 52755035 + A A C Missense_Mutation SNP ENST00000493422.3 exon4 c.T180G p.I60M exonic ENSG00000244067.3 . nonsynonymous SNV ENSG00000244067.3:ENST00000493422.3:exon4:c.T180G:p.I60M 6p12.2 C3N-00380 . . . . . . . . . 3.20 T T B P D D L T N 0.354 T T T 0.147 0.787 0.194 0.041 T T T T T D 1.211 13.720 0.991 N N -0.478 1.221 -0.586 1.067 0.000 0.497 0.590 0.547 0.542 . 3.640 -1.680 -1.986 0.092 0.567 0.001 0.292 0.674 895 Glutathione_S-transferase,_N-terminal . . . GSTA2 205 0 300 50 0.142857142857143 NA TRUE +ENSG00000130024.15 . BCM GRCh38.p13 chr6 169704074 169704074 + C C T Missense_Mutation SNP ENST00000339209.9 exon12 c.G1426A p.D476N exonic ENSG00000130024.15 . nonsynonymous SNV ENSG00000130024.15:ENST00000339209.9:exon12:c.G1426A:p.D476N 6q27 C3N-00380 . . . . . . . . . 7.20 D T P B D D N D N 0.568 T T T 0.367 0.493 0.782 0.492 T T T T T D 3.413 24.400 0.998 D D 0.293 3.745 0.464 4.848 1.000 0.660 0.663 0.663 0.651 . 6.170 6.170 5.966 1.026 0.597 1.000 1.000 0.999 976 Zinc_finger,_PHD-type;Zinc_finger,_PHD-finger . . . PHF10 94 0 129 26 0.167741935483871 TRUE NA +ENSG00000168090.10 . BCM GRCh38.p13 chr7 100091258 100091258 + C C A Missense_Mutation SNP ENST00000303904.8 exon8 c.C670A p.Q224K exonic ENSG00000168090.10 . nonsynonymous SNV ENSG00000168090.10:ENST00000303904.8:exon8:c.C670A:p.Q224K 7q22.1 C3N-00380 . . . . . . . . . 17.20 D D D D D D M T D 0.848 T T D 0.294 0.617 0.697 2.287 D D D D D D 3.842 26.000 0.994 D D 0.651 6.486 0.632 6.649 1.000 0.722 0.698 0.672 0.735 . 4.930 4.930 6.866 1.026 0.599 1.000 0.992 0.969 151 Rpn11/EIF3F,_C-terminal . . . COPS6 186 0 201 41 0.169421487603306 TRUE TRUE +ENSG00000133619.17 . BCM GRCh38.p13 chr7 149733791 149733791 + C C A Missense_Mutation SNP ENST00000319551.12 exon17 c.C2837A p.P946H exonic ENSG00000133619.17 . nonsynonymous SNV ENSG00000133619.17:ENST00000319551.12:exon17:c.C2837A:p.P946H 7q36.1 C3N-00380 . . . . . . . . . 5.19 D D P B N N . T D 0.264 T T D 0.019 0.151 0.055 . T T T T D T 1.854 18.140 0.990 N N -0.517 1.143 -0.680 0.928 0.438 0.706 0.694 0.710 0.492 . 4.990 0.589 0.110 0.118 0.580 0.000 0.000 0.001 982 . . . . KRBA1 118 2 136 30 0.180722891566265 TRUE TRUE +ENSG00000147905.17 . BCM GRCh38.p13 chr9 37126349 37126349 + A A G Missense_Mutation SNP ENST00000534928.5 exon2 c.A17G p.Y6C exonic ENSG00000147905.17 . nonsynonymous SNV ENSG00000147905.17:ENST00000534928.5:exon2:c.A17G:p.Y6C 9p13.2 C3N-00380 8.3e-06 0 0 0 0 1.504e-05 0 0 rs145285114 8.20 D D D P N D L T D 0.461 T T D 0.201 . 0.134 0.556 T T T T D T 3.128 23.700 0.996 D N 0.248 3.522 0.213 3.246 1.000 0.732 0.672 0.744 0.728 . 5.550 3.080 0.469 1.301 0.743 0.879 1.000 0.994 487 . . . . ZCCHC7 49 0 21 8 0.275862068965517 TRUE NA +ENSG00000107263.18 . BCM GRCh38.p13 chr9 131621966 131621966 + A A C Missense_Mutation SNP ENST00000372189.7 exon11 c.T1684G p.S562A exonic ENSG00000107263.18 . nonsynonymous SNV ENSG00000107263.18:ENST00000372189.7:exon11:c.T1684G:p.S562A 9q34.13 C3N-00380 . . . . . . . . . 12.20 D D D D D D M T N 0.710 T T D 0.221 0.182 0.610 0.829 T T T T D D 4.025 27.200 0.998 D D 0.770 8.221 0.759 9.011 1.000 0.731 0.750 0.688 0.714 . 5.570 5.570 8.594 1.312 0.756 1.000 0.989 0.859 453 . . . . RAPGEF1 244 0 210 72 0.25531914893617 TRUE TRUE +ENSG00000128815.19 . BCM GRCh38.p13 chr10 48890702 48890702 + T T C Missense_Mutation SNP ENST00000325239.11 exon44 c.T7291C p.Y2431H exonic ENSG00000128815.19 . nonsynonymous SNV ENSG00000128815.19:ENST00000325239.11:exon44:c.T7291C:p.Y2431H 10q11.23 C3N-00380 . . . . . . . . . 8.20 T D D P N D M T N 0.485 T T D 0.143 0.463 0.174 . T T T T D T 3.306 24.100 0.998 D D 0.458 4.722 0.455 4.774 0.077 0.707 0.725 0.547 0.542 . 4.830 4.830 4.637 1.138 0.665 1.000 0.998 0.991 970 PH-BEACH_domain . . . WDFY4 154 0 176 49 0.217777777777778 TRUE TRUE +ENSG00000107745.19 . BCM GRCh38.p13 chr10 72563020 72563020 + C C A Missense_Mutation SNP ENST00000361114.10 exon3 c.G205T p.D69Y exonic ENSG00000107745.19 . nonsynonymous SNV ENSG00000107745.19:ENST00000361114.10:exon3:c.G205T:p.D69Y 10q22.1 C3N-00380 . . . . . . . . . 7.20 D D B B N D L T N 0.179 T T D 0.267 0.282 0.724 0.366 T T T T D D 2.665 22.800 0.989 D N -0.041 2.370 0.072 2.623 1.000 0.732 0.688 0.744 0.728 . 5.500 4.580 2.524 1.013 0.599 1.000 0.397 0.815 777 . . . . MICU1 57 0 33 9 0.214285714285714 TRUE TRUE +ENSG00000130649.10 . BCM GRCh38.p13 chr10 133532181 133532181 + A A G Missense_Mutation SNP ENST00000252945.8 exon4 c.A545G p.D182G exonic ENSG00000130649.10 . nonsynonymous SNV ENSG00000130649.10:ENST00000252945.8:exon4:c.A545G:p.D182G 10q26.3 C3N-00380 . . . . . . . . . 9.20 D D D P N D L T N 0.364 T T D 0.338 0.614 0.773 1.140 T T T T D D 2.839 23.100 0.995 D D -0.002 2.504 0.013 2.404 0.501 0.487 0.574 0.547 0.563 . 4.590 3.440 1.668 1.249 0.754 0.003 0.068 0.281 994 . . . . CYP2E1 118 0 141 13 0.0844155844155844 TRUE TRUE +ENSG00000185940.10 . BCM GRCh38.p13 chr11 1630271 1630271 + G G T Missense_Mutation SNP ENST00000399676.3 exon1 c.G431T p.G144V exonic ENSG00000185940.10 . nonsynonymous SNV ENSG00000185940.10:ENST00000399676.3:exon1:c.G431T:p.G144V 11p15.5 C3N-00380 . . . . . . . . . 3.17 D T P B . D M T N 0.247 T T T 0.084 0.201 0.283 0.239 . T T T T . 1.261 14.110 0.581 N N 0.049 2.688 -0.076 2.118 0.011 0.497 0.590 0.578 0.542 . 2.100 2.100 0.377 0.858 -0.836 0.034 0.321 0.000 976 . . . . KRTAP5-5 148 0 177 28 0.136585365853659 NA TRUE +ENSG00000166341.8 . BCM GRCh38.p13 chr11 6627388 6627388 + G G T Missense_Mutation SNP ENST00000299441.5 exon14 c.C5651A p.A1884D exonic ENSG00000166341.8 . nonsynonymous SNV ENSG00000166341.8:ENST00000299441.5:exon14:c.C5651A:p.A1884D 11p15.4 C3N-00380 . . . . . . . . . 0.20 T T B B N N N T N 0.149 T T T 0.045 0.454 0.082 0.284 T T T T T T 1.950 18.880 0.759 N N -0.783 0.680 -0.624 1.010 1.000 0.707 0.686 0.723 0.714 . 5.310 -0.310 2.051 -0.220 -0.148 0.982 0.997 0.990 276 Cadherin-like . . . DCHS1 263 0 312 40 0.113636363636364 TRUE TRUE +ENSG00000110693.18 . BCM GRCh38.p13 chr11 16097671 16097671 + G G - Frame_Shift_Del DEL ENST00000528429.5 exon8 c.916delC p.Q306Sfs*34 exonic ENSG00000110693.18 . frameshift deletion ENSG00000110693.18:ENST00000528429.5:exon8:c.916delC:p.Q306Sfs*34 11p15.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOX6 403 0 393 64 0.140043763676149 TRUE TRUE +ENSG00000026508.19 . BCM GRCh38.p13 chr11 35229216 35229216 + C C A Missense_Mutation SNP ENST00000428726.8 exon18 c.C2112A p.S704R exonic ENSG00000026508.19 . nonsynonymous SNV ENSG00000026508.19:ENST00000428726.8:exon18:c.C2112A:p.S704R 11p13 C3N-00380 . . . . . . . . . 13.19 D D D D D D . T D 0.917 T T D 0.311 0.268 0.490 0.315 T D T T D D 3.768 25.700 0.998 D D 0.671 6.728 0.659 7.056 1.000 0.706 0.698 0.710 0.613 . 5.930 5.010 2.418 0.129 0.599 1.000 1.000 0.991 819 . . . . CD44 159 0 153 43 0.219387755102041 TRUE TRUE +ENSG00000174914.2 . BCM GRCh38.p13 chr11 56700514 56700514 + A A C Missense_Mutation SNP ENST00000642097.1 exon2 c.A127C p.T43P exonic ENSG00000174914.2 . nonsynonymous SNV ENSG00000174914.2:ENST00000642097.1:exon2:c.A127C:p.T43P 11q12.1 C3N-00380 . . . . . . . . . 3.20 D D B B N N L T N 0.277 T T T 0.116 0.579 0.467 0.003 T T T T T D 1.431 15.290 0.961 N N -0.464 1.248 -0.627 1.006 1.000 0.487 0.574 0.316 0.564 . 4.520 2.140 -0.992 1.260 0.650 0.000 0.002 0.044 438 GPCR,_rhodopsin-like,_7TM . . . OR9G1 432 0 616 67 0.0980966325036603 NA TRUE +ENSG00000134780.10 . BCM GRCh38.p13 chr11 61728285 61728285 + G G T Nonsense_Mutation SNP ENST00000257215.10 exon7 c.G769T p.E257X exonic ENSG00000134780.10 . stopgain ENSG00000134780.10:ENST00000257215.10:exon7:c.G769T:p.E257X 11q12.2 C3N-00380 . . . . . . . . . 6.6 . . . . D A . . . 0.405 . . . . . . . . . D D . . 8.272 42 0.997 D D 1.049 15.556 0.886 13.182 1.000 0.563 0.590 0.597 0.636 . 4.740 4.740 6.909 1.164 0.662 1.000 0.983 0.853 730 . . . . DAGLA 93 0 84 20 0.192307692307692 TRUE TRUE +ENSG00000110721.12 . BCM GRCh38.p13 chr11 68066428 68066432 + CCTGT CCTGT - Frame_Shift_Del DEL ENST00000265689.9 exon8 c.1013_1016del p.Y338Wfs*63 exonic ENSG00000110721.12 . frameshift deletion ENSG00000110721.12:ENST00000265689.9:exon8:c.1013_1016del:p.Y338Wfs*63 11q13.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHKA 86 0 50 13 0.206349206349206 TRUE TRUE +ENSG00000137745.12 . BCM GRCh38.p13 chr11 102945648 102945648 + T T - Frame_Shift_Del DEL ENST00000260302.8 exon9 c.1313delA p.N438Mfs*51 exonic ENSG00000137745.12 . frameshift deletion ENSG00000137745.12:ENST00000260302.8:exon9:c.1313delA:p.N438Mfs*51 11q22.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP13 165 0 51 7 0.120689655172414 TRUE TRUE +ENSG00000137710.17 . BCM GRCh38.p13 chr11 110233260 110233260 + C C A Nonsense_Mutation SNP ENST00000645495.2 exon13 c.G1564T p.E522X exonic ENSG00000137710.17 . stopgain ENSG00000137710.17:ENST00000645495.2:exon13:c.G1564T:p.E522X 11q22.3 C3N-00380 . . . . . . . . . 5.6 . . . . D D . . . 0.931 . . . . . . . . . D D . . 7.682 39 0.997 D N 0.966 12.889 0.870 12.533 1.000 0.707 0.725 0.725 0.714 . 6.010 6.010 5.809 1.005 0.596 1.000 0.999 0.997 792 Ezrin/radixin/moesin,_C-terminal . . . RDX 178 0 146 34 0.188888888888889 TRUE TRUE +ENSG00000197651.4 . BCM GRCh38.p13 chr12 90953925 90953925 + G G C Missense_Mutation SNP ENST00000358859.3 exon1 c.C818G p.P273R exonic ENSG00000197651.4 . nonsynonymous SNV ENSG00000197651.4:ENST00000358859.3:exon1:c.C818G:p.P273R 12q21.33 C3N-00380 . . . . . . . . . 2.20 T D D P N N L T N 0.081 T T T 0.074 0.305 0.199 1.012 T T T T T T 1.791 17.670 0.951 N N -0.945 0.466 -1.101 0.375 0.001 0.526 0.616 0.596 0.584 . 4.130 -0.138 0.626 -0.238 -1.000 0.000 0.000 0.002 922 . . . . CCER1 186 0 254 51 0.167213114754098 TRUE TRUE +ENSG00000132938.21 . BCM GRCh38.p13 chr13 29025422 29025422 + C C T Missense_Mutation SNP ENST00000612955.5 exon3 c.C724T p.R242C exonic ENSG00000132938.21 . nonsynonymous SNV ENSG00000132938.21:ENST00000612955.5:exon3:c.C724T:p.R242C 13q12.3 C3N-00380 0.0003 0.0036 8.943e-05 0 0 3.081e-05 0 0 rs201979907 0.13 . T . . N N . . . 0.068 T T T 0.003 . 0.055 . T . T T T T -0.131 0.717 0.684 N N -1.717 0.034 -1.739 0.044 0.012 0.487 0.574 0.574 0.564 . 4.960 -5.270 -0.641 -2.075 -1.938 0.000 0.000 0.003 850 . . . ID=COSV70914756;OCCURENCE=5(large_intestine),1(stomach),1(endometrium) MTUS2 197 1 242 44 0.153846153846154 TRUE TRUE +ENSG00000139618.15 . BCM GRCh38.p13 chr13 32363206 32363206 + A A C Missense_Mutation SNP ENST00000380152.7 exon18 c.A8004C p.R2668S exonic ENSG00000139618.15 . nonsynonymous SNV ENSG00000139618.15:ENST00000380152.7:exon18:c.A8004C:p.R2668S 13q13.1 C3N-00380 8.339e-06 0 0 0.0001 0 0 0 0 rs777675936 2.15 T T . . N N . D N 0.418 T T D 0.484 0.353 0.873 0.145 T . T T T . 2.317 21.700 0.993 N N -0.606 0.977 -0.514 1.180 0.105 0.651 0.709 0.659 0.655 . 4.930 -0.601 -0.059 0.324 0.691 0.699 1.000 0.998 711 . . . . BRCA2 78 1 31 11 0.261904761904762 TRUE NA +ENSG00000092054.13 . BCM GRCh38.p13 chr14 23424133 23424133 + G G A Missense_Mutation SNP ENST00000355349.4 exon23 c.C2696T p.A899V exonic ENSG00000092054.13 . nonsynonymous SNV ENSG00000092054.13:ENST00000355349.4:exon23:c.C2696T:p.A899V 14q11.2 C3N-00380 . . . . . . . . . 11.19 D D B B . D M D N 0.577 T T D 0.321 0.463 0.964 0.987 T D T T D D 3.227 23.900 0.997 D D 0.112 2.935 0.265 3.520 0.998 0.554 0.588 0.590 0.564 . 5.550 5.550 3.955 1.154 0.651 1.000 0.999 0.992 376 Myosin_tail . . . MYH7 153 0 180 36 0.166666666666667 TRUE TRUE +ENSG00000087303.18 . BCM GRCh38.p13 chr14 52060237 52060237 + C C A Missense_Mutation SNP ENST00000216286.10 exon3 c.G654T p.Q218H exonic ENSG00000087303.18 . nonsynonymous SNV ENSG00000087303.18:ENST00000216286.10:exon3:c.G654T:p.Q218H 14q22.1 C3N-00380 . . . . . . . . . 4.20 T T B B D D N T N 0.324 T T T 0.075 0.596 0.586 0.183 T T T T D T 1.785 17.620 0.996 D N -0.353 1.488 -0.146 1.921 1.000 0.615 0.563 0.659 0.586 . 5.580 3.640 0.149 1.026 0.599 0.968 1.000 0.990 920 NIDO_domain . . . NID2 129 0 146 24 0.141176470588235 TRUE TRUE +ENSG00000119720.18 . BCM GRCh38.p13 chr14 90292825 90292825 + T T C Missense_Mutation SNP ENST00000354366.8 exon9 c.A1714G p.K572E exonic ENSG00000119720.18 . nonsynonymous SNV ENSG00000119720.18:ENST00000354366.8:exon9:c.A1714G:p.K572E 14q32.11 C3N-00380 . . . . . . . . . 8.20 D D P P D D M T N 0.363 T T T 0.078 0.470 0.478 0.315 T T T T D D 3.904 26.400 0.998 D N 0.269 3.623 0.279 3.599 0.996 0.706 0.654 0.710 0.636 . 5.460 5.460 3.036 1.138 0.665 0.999 0.965 0.326 934 . . . . NRDE2 98 0 123 28 0.185430463576159 TRUE TRUE +ENSG00000133958.13 . BCM GRCh38.p13 chr14 93637218 93637218 + C C G Missense_Mutation SNP ENST00000393151.6 exon33 c.C5836G p.Q1946E exonic ENSG00000133958.13 . nonsynonymous SNV ENSG00000133958.13:ENST00000393151.6:exon33:c.C5836G:p.Q1946E 14q32.12 C3N-00380 3.312e-05 0 0 0 0 6.022e-05 0 0 rs376392862 5.17 D T . . D D N T N 0.453 T T T 0.138 . 0.043 0.350 T T T T T . 2.193 20.800 0.985 D D -0.061 2.303 0.158 2.985 0.692 0.638 0.590 0.653 0.564 . 5.340 5.340 3.462 1.026 0.599 1.000 1.000 0.999 764 . . . ID=COSV99829516;OCCURENCE=1(stomach) UNC79 239 0 275 47 0.145962732919255 TRUE NA +ENSG00000104133.15 . BCM GRCh38.p13 chr15 44621870 44621870 + C C A Missense_Mutation SNP ENST00000261866.12 exon14 c.G2509T p.D837Y exonic ENSG00000104133.15 . nonsynonymous SNV ENSG00000104133.15:ENST00000261866.12:exon14:c.G2509T:p.D837Y 15q21.1 C3N-00380 . . . . . . . . . 3.20 D D B B N N L T N 0.773 T T T 0.141 0.475 0.637 0.287 T T T T T D 1.910 18.570 0.976 N N -0.478 1.220 -0.473 1.247 0.090 0.732 0.725 0.651 0.728 . 5.010 2.660 1.491 0.126 0.599 0.011 0.897 0.975 142 . . . . SPG11 190 0 120 18 0.130434782608696 TRUE NA +ENSG00000171914.16 . BCM GRCh38.p13 chr15 62750410 62750410 + G G T Missense_Mutation SNP ENST00000561311.5 exon33 c.G4128T p.K1376N exonic ENSG00000171914.16 . nonsynonymous SNV ENSG00000171914.16:ENST00000561311.5:exon33:c.G4128T:p.K1376N 15q22.2 C3N-00380 . . . . . . . . . 8.20 T T B B D D L T N 0.416 T T D 0.081 0.368 0.497 0.260 D T T T D D 2.517 22.500 0.992 D D -0.231 1.792 -0.084 2.092 1.000 0.706 0.574 0.710 0.616 . 5.910 3.010 2.683 1.176 -0.135 1.000 1.000 0.951 921 . . . . TLN2 180 0 127 25 0.164473684210526 TRUE TRUE +ENSG00000170776.22 . BCM GRCh38.p13 chr15 85580958 85580958 + C C G Missense_Mutation SNP ENST00000394518.7 exon7 c.C2890G p.H964D exonic ENSG00000170776.22 . nonsynonymous SNV ENSG00000170776.22:ENST00000394518.7:exon7:c.C2890G:p.H964D 15q25.3 C3N-00380 . . . . . . . . . 0.18 T T B B . N L T N 0.151 T T T 0.078 0.104 0.503 0.049 T T T T T T 0.026 1.507 0.666 N . -1.719 0.034 -1.824 0.030 1.000 0.731 0.696 0.651 0.649 . 5.160 -10.300 -0.503 -0.662 -0.178 0.000 0.000 0.002 714 . . . . AKAP13 84 0 85 18 0.174757281553398 TRUE TRUE +ENSG00000188522.15 . BCM GRCh38.p13 chr17 18977677 18977677 + C C A Missense_Mutation SNP ENST00000388995.11 exon5 c.G1989T p.Q663H exonic ENSG00000188522.15 . nonsynonymous SNV ENSG00000188522.15:ENST00000388995.11:exon5:c.G1989T:p.Q663H 17p11.2 C3N-00380 . . . . . . . . . 4.20 D D B B N D N T N 0.128 T T T 0.026 0.214 0.308 0.226 T T T T T T 1.920 18.640 0.968 D N -0.427 1.325 -0.364 1.439 0.974 0.672 0.577 0.702 0.636 . 5.560 4.590 2.977 0.947 0.597 0.998 0.146 0.014 819 . . . . FAM83G 95 0 160 16 0.0909090909090909 TRUE TRUE +ENSG00000159111.13 . BCM GRCh38.p13 chr17 47831492 47831492 + C C A Missense_Mutation SNP ENST00000351111.7 exon1 c.G20T p.G7V exonic ENSG00000159111.13 . nonsynonymous SNV ENSG00000159111.13:ENST00000351111.7:exon1:c.G20T:p.G7V 17q21.32 C3N-00380 . . . . . . . . . 1.18 T T B B . N M T N 0.524 T T T 0.190 0.412 0.330 . . T T T T T 1.084 12.610 0.539 N N -0.838 0.602 -0.828 0.719 1.000 0.442 0.484 0.522 0.562 . 5.140 3.080 1.271 1.026 0.599 0.029 0.013 0.014 326 . . . . MRPL10 196 0 258 55 0.175718849840256 TRUE NA +ENSG00000108924.14 . BCM GRCh38.p13 chr17 55265512 55265512 + C C A Missense_Mutation SNP ENST00000226067.10 exon1 c.C28A p.L10M exonic ENSG00000108924.14 . nonsynonymous SNV ENSG00000108924.14:ENST00000226067.10:exon1:c.C28A:p.L10M 17q22 C3N-00380 . . . . . . . . . 1.19 T T B B N D N . N 0.171 T T T 0.055 0.083 0.068 0.758 T T T T T T 1.650 16.700 0.940 N N -0.574 1.034 -0.510 1.186 1.000 0.598 0.596 0.608 0.639 . 4.080 -0.310 -0.174 -0.217 0.599 0.138 0.998 0.999 916 . . . . HLF 151 0 197 35 0.150862068965517 TRUE TRUE +ENSG00000167676.4 . BCM GRCh38.p13 chr19 4512510 4512510 + C C A Missense_Mutation SNP ENST00000301286.4 exon3 c.G1408T p.V470F exonic ENSG00000167676.4 . nonsynonymous SNV ENSG00000167676.4:ENST00000301286.4:exon3:c.G1408T:p.V470F 19p13.3 C3N-00380 . . . . . . . . . 8.20 D D D D N N M T D 0.616 T T D 0.159 0.665 0.171 . T T T T D T 1.868 18.240 0.992 N N 0.089 2.844 -0.109 2.020 0.301 0.677 0.551 0.673 0.563 . 5.230 4.180 0.451 -0.303 -0.307 0.001 0.001 0.001 940 . . . . PLIN4 458 0 572 128 0.182857142857143 NA TRUE +ENSG00000125755.19 . BCM GRCh38.p13 chr19 45827878 45827878 + - NA TGTGT Frame_Shift_Ins INS ENST00000245934.12 exon15 c.2025_2026insACACA p.E676Tfs*29 exonic ENSG00000125755.19 . frameshift insertion ENSG00000125755.19:ENST00000245934.12:exon15:c.2025_2026insACACA:p.E676Tfs*29 19q13.32 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYMPK NA NA NA NA NA NA NA +ENSG00000105419.18 . BCM GRCh38.p13 chr19 47414776 47414776 + C C T Missense_Mutation SNP ENST00000558555.6 exon6 c.G538A p.G180S exonic ENSG00000105419.18 . nonsynonymous SNV ENSG00000105419.18:ENST00000558555.6:exon6:c.G538A:p.G180S 19q13.32 C3N-00380 6.162e-05 0 0 0 0 6.396e-05 0 0.0002 rs572224868 3.19 T T B B N N . D D 0.321 T T D 0.237 0.522 0.757 0.187 T T T T T T -0.556 0.090 0.775 N N -1.628 0.049 -1.735 0.044 1.000 0.632 0.616 0.780 0.584 . 3.840 -6.810 1.095 -3.317 -3.583 0.013 0.001 0.006 491 . . . . MEIS3 157 0 219 41 0.157692307692308 TRUE NA +ENSG00000254521.7 . BCM GRCh38.p13 chr19 51499453 51499453 + G G A Nonsense_Mutation SNP ENST00000291707.8 exon3 c.C1072T p.R358X exonic ENSG00000254521.7 . stopgain ENSG00000254521.7:ENST00000291707.8:exon3:c.C1072T:p.R358X 19q13.41 C3N-00380 3.548e-05 0 0.0002 0 0 3.106e-05 0 0 rs755724495 3.6 . . . . N A . . . 0.079 . . . . . . . . . D D . . 7.233 37 0.985 N N 0.023 2.594 -0.377 1.413 0.005 0.487 0.590 0.574 0.564 . 2.220 1.150 0.976 -0.557 -0.830 0.004 0.000 0.000 915 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV52460192;OCCURENCE=2(large_intestine),1(stomach) SIGLEC12 32 0 58 9 0.134328358208955 TRUE TRUE +ENSG00000101004.15 . BCM GRCh38.p13 chr20 25500928 25500928 + A A T Missense_Mutation SNP ENST00000278886.11 exon8 c.T944A p.I315N exonic ENSG00000101004.15 . nonsynonymous SNV ENSG00000101004.15:ENST00000278886.11:exon8:c.T944A:p.I315N 20p11.21 C3N-00380 . . . . . . . . . 7.20 D D D P N N M T D 0.372 T T T 0.196 0.379 0.607 0.612 T T T T D T 3.645 25.200 0.994 D N 0.288 3.716 0.201 3.189 0.999 0.635 0.574 0.644 0.636 . 5.000 5.000 6.873 1.312 0.754 0.981 0.338 0.604 583 . . . . NINL 149 0 185 28 0.131455399061033 TRUE TRUE +ENSG00000159147.18 . BCM GRCh38.p13 chr21 33579441 33579441 + G G T Nonsense_Mutation SNP ENST00000303071.10 exon9 c.C1472A p.S491X exonic ENSG00000159147.18 . stopgain ENSG00000159147.18:ENST00000303071.10:exon9:c.C1472A:p.S491X 21q22.11 C3N-00380 . . . . . . . . . 6.7 . . . . D D . . . 0.729 . . . . . . . . . D D D . 8.182 41 0.996 D N 0.986 13.487 0.886 13.156 1.000 0.731 0.698 0.644 0.649 . 5.820 5.820 8.747 1.176 0.618 1.000 0.983 0.769 856 . . . . DONSON 107 0 93 18 0.162162162162162 NA TRUE +ENSG00000173638.19 . BCM GRCh38.p13 chr21 45515746 45515746 + C C G Missense_Mutation SNP ENST00000311124.9 exon6 c.G1688C p.C563S exonic ENSG00000173638.19 . nonsynonymous SNV ENSG00000173638.19:ENST00000311124.9:exon6:c.G1688C:p.C563S 21q22.3 C3N-00380 . . . . . . . . . 4.19 D D B B . N N D N 0.213 T T D 0.120 0.289 0.578 0.187 T T T T T T 0.542 6.934 0.694 N N -1.054 0.349 -1.151 0.326 1.000 0.778 0.702 0.854 0.711 . 2.000 0.046 0.051 -1.376 -0.362 0.000 0.000 0.002 576 . . . . SLC19A1 186 0 203 33 0.139830508474576 TRUE TRUE +ENSG00000186976.15 . BCM GRCh38.p13 chr22 43534819 43534819 + T T C Missense_Mutation SNP ENST00000262726.12 exon30 c.A4102G p.I1368V exonic ENSG00000186976.15 . nonsynonymous SNV ENSG00000186976.15:ENST00000262726.12:exon30:c.A4102G:p.I1368V 22q13.2 C3N-00380 . . . . . . . . . 1.20 T T B B N N L T N 0.078 T T T 0.016 0.455 0.160 0.048 T T T T D T -1.242 0.002 0.422 N N -2.073 0.006 -2.194 0.005 1.000 0.487 0.590 0.574 0.564 . 5.210 -10.400 -2.012 -0.586 -1.707 0.000 0.291 0.021 851 EF-hand_domain . . . EFCAB6 92 0 86 18 0.173076923076923 TRUE TRUE +ENSG00000184083.12 . BCM GRCh38.p13 chrX 54182846 54182846 + A A T Missense_Mutation SNP ENST00000375180.7 exon1 c.T353A p.V118E exonic ENSG00000184083.12 . nonsynonymous SNV ENSG00000184083.12:ENST00000375180.7:exon1:c.T353A:p.V118E Xp11.22 C3N-00380 . . . . . . . . . 11.17 D D D P N D . T D 0.842 T T D 0.346 0.598 0.778 3.472 D . D D D T 3.611 25.100 0.990 D . . . . . 1.000 . . . . . 3.680 3.680 4.063 1.174 0.723 1.000 0.904 0.960 6 . . . . FAM120C 51 0 74 15 0.168539325842697 TRUE TRUE +ENSG00000184788.13 . BCM GRCh38.p13 chrX 85108047 85108047 + G G T Missense_Mutation SNP ENST00000646118.1 exon8 c.C922A p.L308I exonic ENSG00000184788.13 . nonsynonymous SNV ENSG00000184788.13:ENST00000646118.1:exon8:c.C922A:p.L308I Xq21.1 C3N-00380 . . . . . . . . . 1.18 T T D P . N L T N 0.078 T T T 0.071 0.138 0.076 0.260 T T T T T T 0.733 8.757 0.991 N . . . . . 0.986 . . . . . 2.630 2.630 -0.680 1.039 0.498 0.000 0.001 0.001 889 . . . . SATL1 343 0 387 98 0.202061855670103 NA TRUE +ENSG00000214753.4 . BCM GRCh38.p13 chr11 62724428 62724428 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000214753.4;ENSG00000234857.2 ENST00000301785.7:exon2:c.539-2A>G;ENST00000403734.2:exon2:c.539-2A>G . . 11q12.3 C3N-00380 . . . . . . . . rs111417415 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.321 35 0.993 D . 1.021 14.601 0.860 12.133 1.000 0.123 0.177 0.172 0.185 0.985 5.080 5.080 7.128 1.138 0.665 1.000 1.000 1.000 468 . . . . HNRNPUL2 93 0 96 23 0.19327731092437 TRUE NA +ENSG00000150281.6 . BCM GRCh38.p13 chr16 30899534 30899534 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000150281.6 ENST00000279804.2:exon2:c.144+1G>A . . 16p11.2 C3N-00380 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.368 34 0.992 D . 1.015 14.395 0.841 11.441 0.967 0.081 0.097 0.121 0.063 0.976 4.730 4.730 4.944 1.172 0.672 1.000 1.000 0.995 60 . . . . CTF1 40 0 86 18 0.173076923076923 TRUE TRUE +ENSG00000125675.18 . BCM GRCh38.p13 chrX 123354908 123354908 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000125675.18 ENST00000622768.4:exon5:c.697-2A>T . . Xq25 C3N-00380 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.507 32 0.979 D . . . . . 1.000 . . . . 0.836 5.580 5.580 5.416 1.312 0.756 1.000 1.000 1.000 832 . . . . GRIA3 248 0 200 26 0.115044247787611 NA TRUE +ENSG00000054523.17 . BCM GRCh38.p13 chr1 10256314 10256314 + T T G Silent SNP ENST00000377086.5 exon3 c.T174G p.S58S exonic ENSG00000054523.17 . synonymous SNV ENSG00000054523.17:ENST00000377086.5:exon3:c.T174G:p.S58S 1p36.22 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF1B 201 0 224 55 0.197132616487455 TRUE TRUE +ENSG00000123473.15 . BCM GRCh38.p13 chr1 47304996 47304996 + C C T Silent SNP ENST00000360380.7 exon4 c.G45A p.R15R exonic ENSG00000123473.15 . synonymous SNV ENSG00000123473.15:ENST00000360380.7:exon4:c.G45A:p.R15R 1p33 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STIL 179 0 136 24 0.15 TRUE NA +ENSG00000183508.5 . BCM GRCh38.p13 chr1 117623420 117623420 + C C T Silent SNP ENST00000369448.4 exon2 c.C552T p.F184F exonic ENSG00000183508.5 . synonymous SNV ENSG00000183508.5:ENST00000369448.4:exon2:c.C552T:p.F184F 1p12 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65617122;OCCURENCE=1(skin) TENT5C 214 1 217 42 0.162162162162162 TRUE TRUE +ENSG00000143641.10 . BCM GRCh38.p13 chr1 230203279 230203279 + C C T Silent SNP ENST00000366672.5 exon3 c.C363T p.T121T exonic ENSG00000143641.10 . synonymous SNV ENSG00000143641.10:ENST00000366672.5:exon3:c.C363T:p.T121T 1q42.13 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GALNT2 67 0 79 16 0.168421052631579 TRUE TRUE +ENSG00000178171.10 . BCM GRCh38.p13 chr2 130763434 130763434 + G G T Silent SNP ENST00000423981.1 exon2 c.G1362T p.G454G exonic ENSG00000178171.10 . synonymous SNV ENSG00000178171.10:ENST00000423981.1:exon2:c.G1362T:p.G454G 2q21.1 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58467881;OCCURENCE=1(lung) AMER3 111 0 146 30 0.170454545454545 TRUE TRUE +ENSG00000138434.17 . BCM GRCh38.p13 chr2 181916115 181916115 + T T C Silent SNP ENST00000431877.7 exon11 c.T2475C p.H825H exonic ENSG00000138434.17 . synonymous SNV ENSG00000138434.17:ENST00000431877.7:exon11:c.T2475C:p.H825H 2q31.3 C3N-00380 . . . . . . . . rs376425704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITPRID2 144 1 191 38 0.165938864628821 TRUE TRUE +ENSG00000168955.4 . BCM GRCh38.p13 chr2 227379107 227379107 + T T G Silent SNP ENST00000304568.4 exon1 c.A162C p.G54G exonic ENSG00000168955.4 . synonymous SNV ENSG00000168955.4:ENST00000304568.4:exon1:c.A162C:p.G54G 2q36.3 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TM4SF20 86 0 119 26 0.179310344827586 TRUE TRUE +ENSG00000068796.18 . BCM GRCh38.p13 chr5 62362532 62362532 + T T C Silent SNP ENST00000401507.7 exon12 c.T1110C p.Y370Y exonic ENSG00000068796.18 . synonymous SNV ENSG00000068796.18:ENST00000401507.7:exon12:c.T1110C:p.Y370Y 5q12.1 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF2A 59 0 39 9 0.1875 TRUE NA +ENSG00000049883.15 . BCM GRCh38.p13 chr5 72358298 72358298 + C C T Silent SNP ENST00000380639.10 exon10 c.C1038T p.T346T exonic ENSG00000049883.15 . synonymous SNV ENSG00000049883.15:ENST00000380639.10:exon10:c.C1038T:p.T346T 5q13.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTCD2 277 1 373 84 0.183807439824945 TRUE TRUE +ENSG00000009413.16 . BCM GRCh38.p13 chr6 111367155 111367155 + T T C Silent SNP ENST00000368802.8 exon14 c.A6633G p.E2211E exonic ENSG00000009413.16 . synonymous SNV ENSG00000009413.16:ENST00000368802.8:exon14:c.A6633G:p.E2211E 6q21 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REV3L 71 0 62 13 0.173333333333333 TRUE TRUE +ENSG00000005471.18 . BCM GRCh38.p13 chr7 87449994 87449994 + G G A Silent SNP ENST00000265723.8 exon8 c.C807T p.F269F exonic ENSG00000005471.18 . synonymous SNV ENSG00000005471.18:ENST00000265723.8:exon8:c.C807T:p.F269F 7q21.12 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99710648;OCCURENCE=2(endometrium) ABCB4 388 0 427 84 0.164383561643836 TRUE NA +ENSG00000169436.17 . BCM GRCh38.p13 chr8 138646662 138646662 + G G A Silent SNP ENST00000303045.11 exon47 c.C3468T p.G1156G exonic ENSG00000169436.17 . synonymous SNV ENSG00000169436.17:ENST00000303045.11:exon47:c.C3468T:p.G1156G 8q24.23 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57333640;OCCURENCE=1(skin) COL22A1 66 0 84 19 0.184466019417476 TRUE TRUE +ENSG00000165985.10 . BCM GRCh38.p13 chr10 16514705 16514705 + C C T Silent SNP ENST00000298943.4 exon2 c.G591A p.V197V exonic ENSG00000165985.10 . synonymous SNV ENSG00000165985.10:ENST00000298943.4:exon2:c.G591A:p.V197V 10p13 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1QL3 88 0 99 21 0.175 TRUE TRUE +ENSG00000182272.12 . BCM GRCh38.p13 chr11 373106 373106 + G G T Silent SNP ENST00000329962.11 exon5 c.G525T p.P175P exonic ENSG00000182272.12 . synonymous SNV ENSG00000182272.12:ENST00000329962.11:exon5:c.G525T:p.P175P 11p15.5 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . B4GALNT4 191 0 184 37 0.167420814479638 TRUE NA +ENSG00000185085.2 . BCM GRCh38.p13 chr11 62647023 62647023 + C C A Silent SNP ENST00000330574.2 exon2 c.G3057T p.T1019T exonic ENSG00000185085.2 . synonymous SNV ENSG00000185085.2:ENST00000330574.2:exon2:c.G3057T:p.T1019T 11q12.3 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INTS5 45 0 61 10 0.140845070422535 TRUE TRUE +ENSG00000140455.17 . BCM GRCh38.p13 chr15 63556703 63556703 + A A G Silent SNP ENST00000380324.8 exon5 c.A405G p.K135K exonic ENSG00000140455.17 . synonymous SNV ENSG00000140455.17:ENST00000380324.8:exon5:c.A405G:p.K135K 15q22.31 C3N-00380 1.06e-05 0.0001 0 0 0 0 0 0 rs757099582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP3 48 0 34 5 0.128205128205128 TRUE NA +ENSG00000154025.15 . BCM GRCh38.p13 chr17 19020380 19020380 + T T C Silent SNP ENST00000395645.3 exon15 c.T1740C p.N580N exonic ENSG00000154025.15 . synonymous SNV ENSG00000154025.15:ENST00000395645.3:exon15:c.T1740C:p.N580N 17p11.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC5A10 136 0 190 24 0.11214953271028 TRUE TRUE +ENSG00000196535.16 . BCM GRCh38.p13 chr17 29107113 29107113 + G G A Silent SNP ENST00000527372.6 exon20 c.C3408T p.H1136H exonic ENSG00000196535.16 . synonymous SNV ENSG00000196535.16:ENST00000527372.6:exon20:c.C3408T:p.H1136H 17q11.2 C3N-00380 1.656e-05 0 8.64e-05 0 0 1.499e-05 0 0 rs375660360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO18A 197 0 273 56 0.170212765957447 TRUE NA +ENSG00000178607.16 . BCM GRCh38.p13 chr17 64049194 64049194 + C C A Silent SNP ENST00000433197.4 exon18 c.G2262T p.T754T exonic ENSG00000178607.16 . synonymous SNV ENSG00000178607.16:ENST00000433197.4:exon18:c.G2262T:p.T754T 17q23.3 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERN1 31 0 38 6 0.136363636363636 TRUE TRUE +ENSG00000179981.10 . BCM GRCh38.p13 chr18 75287300 75287300 + G G A Silent SNP ENST00000580243.2 exon2 c.G1893A p.P631P exonic ENSG00000179981.10 . synonymous SNV ENSG00000179981.10:ENST00000580243.2:exon2:c.G1893A:p.P631P 18q22.3 C3N-00380 0.0002 0.0002 8.676e-05 0.0002 0 0.0003 0 0 rs145239521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59005487;OCCURENCE=1(kidney),1(lung) TSHZ1 147 0 186 22 0.105769230769231 TRUE TRUE +ENSG00000189299.7 . BCM GRCh38.p13 chrX 55624083 55624083 + G G A Silent SNP ENST00000339140.5 exon1 c.G372A p.E124E exonic ENSG00000189299.7 . synonymous SNV ENSG00000189299.7:ENST00000339140.5:exon1:c.G372A:p.E124E Xp11.21 C3N-00380 0.0004 0.0034 0 0 0 8.387e-05 0 0 rs111516322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXR2 108 1 98 40 0.289855072463768 TRUE NA +ENSG00000089820.16 . BCM GRCh38.p13 chrX 153910529 153910529 + G G T Silent SNP ENST00000350060.10 exon16 c.C1899A p.R633R exonic ENSG00000089820.16 . synonymous SNV ENSG00000089820.16:ENST00000350060.10:exon16:c.C1899A:p.R633R Xq28 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP4 101 1 104 23 0.181102362204724 TRUE TRUE +ENSG00000142669.15 . BCM GRCh38.p13 chr1 26280043 26280043 + C C T 5'Flank SNP NA NA NA NA upstream ENSG00000142669.15 dist=43 . . 1p36.11 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99431921;OCCURENCE=1(stomach) SH3BGRL3 146 0 189 45 0.192307692307692 TRUE NA +ENSG00000132305.20 . BCM GRCh38.p13 chr2 86159521 86159521 + - NA G Intron SNP NA NA NA NA intronic ENSG00000132305.20 . . . 2p11.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IMMT NA NA NA NA NA NA NA +ENSG00000196843.17 . BCM GRCh38.p13 chr2 96552461 96552461 + A A G 3'UTR SNP NA NA NA NA UTR3 ENSG00000196843.17 ENST00000357485.8:c.*148A>G . . 2q11.2 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID5A 90 0 110 22 0.166666666666667 TRUE NA +ENSG00000201264.1 . BCM GRCh38.p13 chr4 151102069 151102069 + - NA A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000201264.1 . . . 4q31.3 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD73B NA NA NA NA NA NA NA +ENSG00000128512.23 . BCM GRCh38.p13 chr7 111935498 111935498 + G G C Intron SNP NA NA NA NA intronic ENSG00000128512.23 . . . 7q31.1 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK4 213 0 224 54 0.194244604316547 TRUE NA +ENSG00000176715.17 . BCM GRCh38.p13 chr16 89145221 89145221 + C C T Intron SNP NA NA NA NA intronic ENSG00000176715.17 . . . 16q24.3 C3N-00380 1.661e-05 0 8.732e-05 0 0 1.507e-05 0 0 rs192646888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACSF3 336 1 489 100 0.169779286926995 TRUE NA +ENSG00000104964.15 . BCM GRCh38.p13 chr19 3056429 3056429 + T T G Intron SNP NA NA NA NA intronic ENSG00000104964.15 . . . 19p13.3 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLE5 30 1 10 4 0.285714285714286 TRUE NA +ENSG00000142405.22 . BCM GRCh38.p13 chr19 53805600 53805600 + C C T Intron SNP NA NA NA NA intronic ENSG00000142405.22 . . . 19q13.42 C3N-00380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLRP12 16 0 29 5 0.147058823529412 TRUE NA +ENSG00000188984.12 . BCM GRCh38.p13 chr1 12725606 12725606 + G G T Missense_Mutation SNP ENST00000359318.8 exon4 c.G834T p.W278C exonic ENSG00000188984.12 . nonsynonymous SNV ENSG00000188984.12:ENST00000359318.8:exon4:c.G834T:p.W278C 1p36.21 C3N-00390 . . . . . . . . . 5.13 . D . . D D . . . 0.360 T T T 0.170 . 0.107 0.677 T . T T D T 3.297 24.100 0.988 D N 0.565 5.581 0.488 5.048 0.550 0.554 0.574 0.618 0.564 . 5.560 5.560 1.934 1.075 0.618 0.602 0.469 0.433 911 . . . . AADACL3 134 1 105 30 0.222222222222222 TRUE TRUE +ENSG00000164011.18 . BCM GRCh38.p13 chr1 42851220 42851220 + C C T Nonsense_Mutation SNP ENST00000651192.1 exon4 c.C355T p.Q119X exonic ENSG00000164011.18 . stopgain ENSG00000164011.18:ENST00000651192.1:exon4:c.C355T:p.Q119X 1p34.2 C3N-00390 . . . . . . . . . 5.6 . . . . D D . . . 0.222 . . . . . . . . . D D . . 5.776 34 0.998 D N 0.945 12.275 0.771 9.332 0.987 0.707 0.725 0.725 0.674 . 5.190 4.200 -0.062 1.018 0.589 0.001 1.000 0.999 623 Zinc_finger_C2H2-type . . . ZNF691 313 0 183 45 0.197368421052632 TRUE TRUE +ENSG00000162433.15 . BCM GRCh38.p13 chr1 65218877 65218877 + C C A Missense_Mutation SNP ENST00000327299.8 exon3 c.C389A p.P130H exonic ENSG00000162433.15 . nonsynonymous SNV ENSG00000162433.15:ENST00000327299.8:exon3:c.C389A:p.P130H 1p31.3 C3N-00390 . . . . . . . . . 13.20 D T D P D D H T D 0.551 D D D 0.538 0.408 0.945 1.082 T D D T D D 2.753 22.900 0.997 N N 0.494 4.988 0.320 3.837 0.944 0.707 0.725 0.464 0.568 . 4.780 2.880 1.002 1.022 0.596 0.387 0.999 0.921 645 Adenylate_kinase,_active_site_lid_domain . . . AK4 122 0 55 18 0.246575342465753 TRUE TRUE +ENSG00000118655.7 . BCM GRCh38.p13 chr1 113912058 113912058 + G G A Missense_Mutation SNP ENST00000650450.2 exon4 c.G1466A p.G489D exonic ENSG00000118655.7 . nonsynonymous SNV ENSG00000118655.7:ENST00000650450.2:exon4:c.G1466A:p.G489D 1p13.2 C3N-00390 . . . . . . . . . 0.20 T T B B N N N T N 0.036 T T T 0.108 0.165 0.612 0.204 T T T T T T 0.292 4.191 0.501 N N -1.144 0.269 -1.162 0.316 1.000 0.732 0.725 0.744 0.636 . 5.060 -0.970 0.040 -0.370 -0.177 0.000 0.001 0.122 573 . . . . DCLRE1B 207 0 134 33 0.197604790419162 TRUE NA +ENSG00000198216.12 . BCM GRCh38.p13 chr1 181736368 181736386 + AGAAGCGTGAGACAGGCAA AGAAGCGTGAGACAGGCAA - Frame_Shift_Del DEL ENST00000367573.7 exon22 c.3356_3374del p.K1120Pfs*25 exonic ENSG00000198216.12 . frameshift deletion ENSG00000198216.12:ENST00000367573.7:exon22:c.3356_3374del:p.K1120Pfs*25 1q25.3 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1E 252 0 144 17 0.105590062111801 TRUE TRUE +ENSG00000067704.10 . BCM GRCh38.p13 chr1 220102264 220102264 + A A G Missense_Mutation SNP ENST00000366922.3 exon4 c.A686G p.Q229R exonic ENSG00000067704.10 . nonsynonymous SNV ENSG00000067704.10:ENST00000366922.3:exon4:c.A686G:p.Q229R 1q41 C3N-00390 . . . . . . . . . 5.17 . T B B D D N . . 0.261 T T T 0.138 0.534 0.523 . T T T T D T 2.817 23.100 0.992 D D 0.237 3.472 0.419 4.496 1.000 0.732 0.744 0.725 0.714 . 5.960 5.960 8.991 1.312 0.756 1.000 1.000 0.996 731 Aminoacyl-tRNA_synthetase,_class_Ia . . . IARS2 67 0 93 18 0.162162162162162 TRUE NA +ENSG00000162923.16 . BCM GRCh38.p13 chr1 224433802 224433802 + A A G Missense_Mutation SNP ENST00000651911.1 exon1 c.T304C p.S102P exonic ENSG00000162923.16 . nonsynonymous SNV ENSG00000162923.16:ENST00000651911.1:exon1:c.T304C:p.S102P 1q42.12 C3N-00390 . . . . . . . . . 4.17 T T . . . D L T N 0.110 T T D 0.116 0.268 0.215 1.701 D T T T T T 1.601 16.380 0.989 D N -0.464 1.249 -0.412 1.350 1.000 0.733 0.522 0.601 0.562 . 3.570 1.080 0.467 -0.857 -0.894 0.991 0.949 0.985 749 . . . . WDR26 174 0 94 31 0.248 TRUE TRUE +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32515219 32515219 + C C G Missense_Mutation SNP ENST00000421745.6 exon55 c.C10798G p.Q3600E exonic ENSG00000115760.14 . nonsynonymous SNV ENSG00000115760.14:ENST00000421745.6:exon55:c.C10798G:p.Q3600E 2p22.3 C3N-00390 . . . . . . . . . 3.15 T T . . D D . T N 0.436 T T T 0.184 0.081 0.445 0.210 T . T T T . 1.639 16.620 0.883 D N -0.261 1.711 0.001 2.363 0.992 0.707 0.725 0.725 0.714 . 5.680 5.680 3.045 1.026 0.549 1.000 1.000 0.987 242 . . . . BIRC6 240 0 241 54 0.183050847457627 TRUE NA +ENSG00000144115.17 . BCM GRCh38.p13 chr2 88186076 88186076 + G G A Missense_Mutation SNP ENST00000674334.1 exon9 c.G1408A p.D470N exonic ENSG00000144115.17 . nonsynonymous SNV ENSG00000144115.17:ENST00000674334.1:exon9:c.G1408A:p.D470N 2p11.2 C3N-00390 . . . . . . . . . 1.20 T T B B N D L T N 0.105 T T T 0.060 0.300 0.030 0.084 T T T T T T 0.845 9.850 0.944 N N -0.882 0.543 -0.844 0.696 0.008 0.626 0.610 0.805 0.564 . 5.980 1.180 0.124 0.222 0.676 0.024 0.276 0.737 946 . . . . THNSL2 304 0 210 35 0.142857142857143 TRUE TRUE +ENSG00000115267.8 . BCM GRCh38.p13 chr2 162282404 162282404 + T T C Missense_Mutation SNP ENST00000649979.2 exon6 c.A1268G p.N423S exonic ENSG00000115267.8 . nonsynonymous SNV ENSG00000115267.8:ENST00000649979.2:exon6:c.A1268G:p.N423S 2q24.2 C3N-00390 . . . . . . . . . 5.20 T T B B D D N T N 0.369 T T T 0.053 0.461 0.632 0.029 T T T T D D 1.957 18.930 0.551 D N -0.062 2.300 0.083 2.667 1.000 0.707 0.725 0.618 0.621 . 5.920 5.920 5.686 1.138 0.665 1.000 0.691 0.629 575 Helicase_superfamily_1/2,_ATP-binding_domain;Helicase/UvrB,_N-terminal . . . IFIH1 119 0 162 11 0.0635838150289017 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149832 10149832 + T T - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.509delT p.V170Afs*32 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.509delT:p.V170Afs*32 3p25.3 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56559921;OCCURENCE=3(kidney) VHL 526 0 177 77 0.303149606299213 TRUE TRUE +ENSG00000168038.11 . BCM GRCh38.p13 chr3 41800217 41800217 + C C G Missense_Mutation SNP ENST00000301831.9 exon20 c.G1925C p.G642A exonic ENSG00000168038.11 . nonsynonymous SNV ENSG00000168038.11:ENST00000301831.9:exon20:c.G1925C:p.G642A 3p22.1 C3N-00390 . . . . . . . . . 7.20 T T D P U D M T N 0.427 T T T 0.147 0.215 0.757 0.070 T T D T D T 3.471 24.600 0.997 D D 0.619 6.124 0.635 6.693 0.982 0.615 0.588 0.602 0.655 . 5.320 5.320 5.484 1.026 0.599 1.000 0.999 0.991 690 . . . . ULK4 161 0 90 29 0.243697478991597 TRUE TRUE +ENSG00000004399.12 . BCM GRCh38.p13 chr3 129563164 129563164 + A A G Missense_Mutation SNP ENST00000324093.8 exon26 c.T4598C p.I1533T exonic ENSG00000004399.12 . nonsynonymous SNV ENSG00000004399.12:ENST00000324093.8:exon26:c.T4598C:p.I1533T 3q22.1 C3N-00390 . . . . . . . . . 16.20 D D D D D D M T D 0.507 T T D 0.460 0.866 0.582 1.850 D T D D D D 3.744 25.600 0.993 D D 0.567 5.606 0.549 5.634 1.000 0.722 0.547 0.571 0.735 . 5.250 5.250 7.486 1.312 0.756 1.000 1.000 0.940 518 Plexin,_cytoplasmic_RasGAP_domain . . . PLXND1 151 0 66 16 0.195121951219512 TRUE TRUE +ENSG00000249948.6 . BCM GRCh38.p13 chr4 22693050 22693050 + C C T Missense_Mutation SNP ENST00000610628.4 exon1 c.C35T p.A12V exonic ENSG00000249948.6 . nonsynonymous SNV ENSG00000249948.6:ENST00000610628.4:exon1:c.C35T:p.A12V 4p15.2 C3N-00390 . . . . . . . . . 3.7 . . . . . . . . . 0.549 . . . . . 0.419 . T T T T . D 1.832 17.970 0.996 D D . . . . 0.995 0.526 0.616 0.616 0.530 . 5.690 3.000 0.735 1.026 0.599 0.967 0.061 0.099 901 Glycosyl_hydrolases_family_1,_N-terminal_conserved_site . . . GBA3 86 0 88 9 0.0927835051546392 TRUE TRUE +ENSG00000138735.16 . BCM GRCh38.p13 chr4 119501202 119501202 + A A T Missense_Mutation SNP ENST00000354960.8 exon20 c.T2458A p.F820I exonic ENSG00000138735.16 . nonsynonymous SNV ENSG00000138735.16:ENST00000354960.8:exon20:c.T2458A:p.F820I 4q26 C3N-00390 . . . . . . . . . 20.20 D D D D D D M D D 0.979 D D D 0.915 0.960 0.946 1.244 D D D D D D 4.212 28.800 0.990 D D 0.965 12.860 0.870 12.539 1.000 0.651 0.602 0.644 0.684 . 5.680 5.680 8.692 1.312 0.691 1.000 1.000 0.997 656 3'5'-cyclic_nucleotide_phosphodiesterase,_catalytic_domain . . . PDE5A 98 0 111 23 0.171641791044776 TRUE TRUE +ENSG00000152409.9 . BCM GRCh38.p13 chr5 79237006 79237006 + C C T Missense_Mutation SNP ENST00000396137.5 exon1 c.C356T p.T119I exonic ENSG00000152409.9 . nonsynonymous SNV ENSG00000152409.9:ENST00000396137.5:exon1:c.C356T:p.T119I 5q14.1 C3N-00390 . . . . . . . . . 3.19 D D B B . N N T N 0.084 T T T 0.041 0.141 0.043 . D T T T T T 1.620 16.500 0.901 N N -0.934 0.479 -0.929 0.581 1.000 0.564 0.484 0.520 0.619 . 3.810 2.930 1.596 0.083 0.522 0.008 0.003 0.033 803 . . . . JMY 27 0 13 5 0.277777777777778 TRUE TRUE +ENSG00000047188.16 . BCM GRCh38.p13 chr5 113515337 113515337 + C C A Missense_Mutation SNP ENST00000161863.9 exon2 c.C253A p.L85I exonic ENSG00000047188.16 . nonsynonymous SNV ENSG00000047188.16:ENST00000161863.9:exon2:c.C253A:p.L85I 5q22.2 C3N-00390 . . . . . . . . . 8.20 D T D P N D M T N 0.334 T T T 0.156 0.435 0.228 0.452 T T T T D D 3.591 25.000 0.994 D D 0.709 7.241 0.667 7.177 1.000 0.660 0.663 0.659 0.658 . 5.340 4.460 3.988 1.026 0.599 1.000 1.000 0.999 913 DExH-box_ATP-dependent_RNA_helicase,_R3H_domain;R3H_domain . . . YTHDC2 158 0 204 54 0.209302325581395 TRUE TRUE +ENSG00000221886.4 . BCM GRCh38.p13 chr5 160394692 160394692 + C C A Missense_Mutation SNP ENST00000408953.4 exon2 c.G799T p.V267L exonic ENSG00000221886.4 . nonsynonymous SNV ENSG00000221886.4:ENST00000408953.4:exon2:c.G799T:p.V267L 5q33.3 C3N-00390 . . . . . . . . . 0.18 T T B B . N N T N 0.242 T T T 0.031 0.427 0.095 0.040 . T T T T T -0.079 0.917 0.705 N N -1.283 0.174 -1.244 0.248 0.999 0.615 0.593 0.659 0.655 . 2.840 0.069 -0.808 -2.579 -0.861 0.006 0.072 0.516 934 . . . . ZBED8 300 0 280 66 0.190751445086705 TRUE TRUE +ENSG00000153157.13 . BCM GRCh38.p13 chr6 10961358 10961358 + T T - Frame_Shift_Del DEL ENST00000283141.11 exon27 c.2309delT p.K771Sfs*34 exonic ENSG00000153157.13 . frameshift deletion ENSG00000153157.13:ENST00000283141.11:exon27:c.2309delT:p.K771Sfs*34 6p24.2 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYCP2L 245 0 156 40 0.204081632653061 TRUE TRUE +ENSG00000009413.16 . BCM GRCh38.p13 chr6 111374649 111374649 + C C G Missense_Mutation SNP ENST00000368802.8 exon13 c.G3706C p.G1236R exonic ENSG00000009413.16 . nonsynonymous SNV ENSG00000009413.16:ENST00000368802.8:exon13:c.G3706C:p.G1236R 6q21 C3N-00390 . . . . . . . . . 1.19 T T B B N N . T N 0.211 T T T 0.100 0.229 0.043 0.073 T T T T T D 1.367 14.860 0.970 N N -0.588 1.010 -0.436 1.310 0.822 0.732 0.654 0.653 0.728 . 5.320 3.500 -0.259 1.026 0.599 0.001 0.995 0.998 764 . . . . REV3L 97 0 101 26 0.204724409448819 TRUE TRUE +ENSG00000005469.12 . BCM GRCh38.p13 chr7 87349103 87349103 + G G C Missense_Mutation SNP ENST00000331536.8 exon3 c.G35C p.R12P exonic ENSG00000005469.12 . nonsynonymous SNV ENSG00000005469.12:ENST00000331536.8:exon3:c.G35C:p.R12P 7q21.12 C3N-00390 . . . . . . . . . 12.20 D T P B N D L D D 0.838 T D D 0.461 0.196 0.856 0.059 T T D D D D 2.945 23.300 0.993 D D 0.181 3.220 0.376 4.196 1.000 0.732 0.710 0.659 0.728 . 5.850 5.850 7.276 1.176 0.676 1.000 1.000 0.999 489 . . . . CROT 63 0 72 38 0.345454545454545 TRUE TRUE +ENSG00000099250.18 . BCM GRCh38.p13 chr10 33207698 33207698 + T T C Missense_Mutation SNP ENST00000265371.8 exon11 c.A1633G p.N545D exonic ENSG00000099250.18 . nonsynonymous SNV ENSG00000099250.18:ENST00000265371.8:exon11:c.A1633G:p.N545D 10p11.22 C3N-00390 . . . . . . . . . 14.20 T T D D D D L D N 0.894 D D D 0.658 0.656 0.799 0.764 T T D D D D 4.313 29.700 0.996 D D 0.432 4.547 0.502 5.178 1.000 0.672 0.588 0.659 0.711 . 5.350 5.350 7.581 1.138 0.665 1.000 1.000 0.998 594 Coagulation_factor_5/8_C-terminal_domain . . . NRP1 204 0 99 39 0.282608695652174 TRUE TRUE +ENSG00000213390.11 . BCM GRCh38.p13 chr10 97265887 97265887 + G G A Missense_Mutation SNP ENST00000358531.9 exon2 c.C295T p.R99W exonic ENSG00000213390.11;ENSG00000269891.2 . nonsynonymous SNV ENSG00000213390.11:ENST00000358531.9:exon2:c.C295T:p.R99W,ENSG00000269891.2:ENST00000479633.2:exon2:c.C295T:p.R99W 10q24.1 C3N-00390 4.119e-05 0 0 0.0001 0 0 0 0.0002 rs757936867 11.20 D D D D U D M T N 0.863 T T D 0.324 0.525 0.439 0.833 T T T D T D 4.120 27.900 0.999 D D 0.499 5.026 0.507 5.221 0.999 0.706 0.725 0.710 0.636 . 5.940 3.980 4.976 0.161 0.676 1.000 0.998 0.989 710 . . . ID=COSV57391247;OCCURENCE=1(lung) ARHGAP19 211 0 138 42 0.233333333333333 TRUE NA +ENSG00000174576.10 . BCM GRCh38.p13 chr11 66424604 66424604 + G G T Nonsense_Mutation SNP ENST00000311034.7 exon7 c.G1714T p.E572X exonic ENSG00000174576.10 . stopgain ENSG00000174576.10:ENST00000311034.7:exon7:c.G1714T:p.E572X 11q13.2 C3N-00390 . . . . . . . . . 5.6 . . . . D A . . . 0.957 . . . . . . . . . D D . . 7.630 38 0.996 D N 1.152 20.176 0.987 18.042 1.000 0.497 0.547 0.547 0.542 . 4.690 4.690 8.296 1.176 0.676 1.000 1.000 1.000 55 . . . . NPAS4 215 0 154 30 0.16304347826087 TRUE TRUE +ENSG00000089094.19 . BCM GRCh38.p13 chr12 121442245 121442245 + G G A Missense_Mutation SNP ENST00000377071.9 exon19 c.C3196T p.H1066Y exonic ENSG00000089094.19 . nonsynonymous SNV ENSG00000089094.19:ENST00000377071.9:exon19:c.C3196T:p.H1066Y 12q24.31 C3N-00390 . . . . . . . . . 7.20 D D P B N D N T N 0.420 T T T 0.143 0.636 0.093 0.938 T T T T D D 3.227 23.900 0.997 D D 0.108 2.919 0.335 3.927 1.000 0.672 0.702 0.702 0.636 . 5.850 5.850 6.649 1.176 0.676 1.000 1.000 0.999 573 F-box_domain . . . KDM2B 287 0 167 34 0.169154228855721 TRUE TRUE +ENSG00000119714.11 . BCM GRCh38.p13 chr14 91234176 91234176 + G G T Missense_Mutation SNP ENST00000650645.1 exon2 c.C875A p.T292N exonic ENSG00000119714.11 . nonsynonymous SNV ENSG00000119714.11:ENST00000650645.1:exon2:c.C875A:p.T292N 14q32.11 C3N-00390 . . . . . . . . . 2.20 T T B B N D N T N 0.090 T T T 0.041 0.396 0.425 0.904 T T T T T T 1.957 18.930 0.969 D N -0.236 1.777 -0.022 2.286 0.484 0.581 0.380 0.576 0.613 . 5.260 4.290 3.149 1.176 0.676 1.000 0.997 0.953 900 . . . . GPR68 90 0 36 17 0.320754716981132 TRUE TRUE +ENSG00000140564.12 . BCM GRCh38.p13 chr15 90881432 90881432 + T T C Missense_Mutation SNP ENST00000268171.8 exon16 c.T1939C p.S647P exonic ENSG00000140564.12 . nonsynonymous SNV ENSG00000140564.12:ENST00000268171.8:exon16:c.T1939C:p.S647P 15q26.1 C3N-00390 . . . . . . . . . 7.20 T T B B D D L T N 0.557 T T D 0.133 0.294 0.525 0.521 T D T T D T 2.685 22.800 0.995 D D -0.004 2.498 0.094 2.712 1.000 0.672 0.702 0.723 0.711 . 5.020 3.820 3.236 1.134 0.661 1.000 0.904 0.768 697 . . . . FURIN 180 1 95 17 0.151785714285714 TRUE TRUE +ENSG00000140937.14 . BCM GRCh38.p13 chr16 64951012 64951012 + G G A Missense_Mutation SNP ENST00000268603.9 exon12 c.C1649T p.T550I exonic ENSG00000140937.14 . nonsynonymous SNV ENSG00000140937.14:ENST00000268603.9:exon12:c.C1649T:p.T550I 16q21 C3N-00390 8.367e-06 0 0 0 0.0002 0 0 0 rs556854549 16.20 D D D D D D M T D 0.833 D T D 0.522 0.536 0.748 0.656 T T D D D D 3.909 26.400 0.997 D D 0.770 8.221 0.694 7.647 1.000 0.706 0.588 0.659 0.613 . 5.550 5.550 9.884 1.176 0.676 1.000 0.323 0.056 536 Cadherin-like . . . CDH11 95 0 83 13 0.135416666666667 TRUE NA +ENSG00000134762.17 . BCM GRCh38.p13 chr18 31025813 31025813 + C C A Nonsense_Mutation SNP ENST00000360428.9 exon5 c.G577T p.G193X exonic ENSG00000134762.17 . stopgain ENSG00000134762.17:ENST00000360428.9:exon5:c.G577T:p.G193X 18q12.1 C3N-00390 . . . . . . . . . 4.6 . . . . N A . . . 0.759 . . . . . . . . . D D . . 7.762 39 0.994 D N 1.048 15.508 0.884 13.097 1.000 0.554 0.588 0.618 0.564 . 4.940 4.940 5.085 1.008 0.599 1.000 1.000 0.995 848 Cadherin-like . . . DSC3 153 0 160 43 0.211822660098522 TRUE TRUE +ENSG00000198093.11 . BCM GRCh38.p13 chr19 51890960 51890960 + A A T Missense_Mutation SNP ENST00000354957.8 exon5 c.T1176A p.H392Q exonic ENSG00000198093.11 . nonsynonymous SNV ENSG00000198093.11:ENST00000354957.8:exon5:c.T1176A:p.H392Q 19q13.41 C3N-00390 . . . . . . . . . 9.18 D D D B . N H D D 0.283 T D T 0.314 0.779 0.896 0.680 T T D T D T 1.936 18.770 0.964 N . -0.443 1.291 -0.694 0.908 0.027 0.672 0.654 0.702 0.636 . 2.630 0.346 0.316 -0.240 -0.216 0.067 0.068 0.313 931 Zinc_finger_C2H2-type . . . ZNF649 86 0 86 17 0.16504854368932 TRUE TRUE +ENSG00000248385.8 . BCM GRCh38.p13 chr19 54075048 54075048 + G G A Missense_Mutation SNP ENST00000432826.2 exon3 c.C137T p.T46M exonic ENSG00000248385.8 . nonsynonymous SNV ENSG00000248385.8:ENST00000432826.2:exon3:c.C137T:p.T46M 19q13.42 C3N-00390 5.159e-05 0 0 0 0 0 0 0.0001 rs774807581 3.15 D D . . . N . T D 0.160 T T T 0.073 0.785 0.067 . T . T T T T -0.119 0.756 0.993 N N -0.456 1.265 -0.761 0.812 0.000 0.487 0.574 0.590 0.564 . 3.600 -1.170 -0.458 -0.660 -1.376 0.002 0.001 0.000 994 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV71524833;OCCURENCE=1(ovary) TARM1 242 0 128 37 0.224242424242424 TRUE TRUE +ENSG00000170471.15 . BCM GRCh38.p13 chr20 38546335 38546335 + G G A Missense_Mutation SNP ENST00000262879.11 exon19 c.G2807A p.R936K exonic ENSG00000170471.15 . nonsynonymous SNV ENSG00000170471.15:ENST00000262879.11:exon19:c.G2807A:p.R936K 20q11.23 C3N-00390 . . . . . . . . . 6.19 T T P P D D L . N 0.474 T T T 0.311 0.336 0.296 1.022 T T T T D D 3.107 23.600 0.996 D D 0.468 4.797 0.513 5.280 1.000 0.707 0.654 0.725 0.714 . 4.920 4.920 9.602 1.176 0.618 1.000 1.000 0.997 851 . . . . RALGAPB 232 0 151 38 0.201058201058201 TRUE TRUE +ENSG00000160216.21 . BCM GRCh38.p13 chr21 43959691 43959691 + C C A Missense_Mutation SNP ENST00000291572.13 exon3 c.C10A p.L4M exonic ENSG00000160216.21 . nonsynonymous SNV ENSG00000160216.21:ENST00000291572.13:exon3:c.C10A:p.L4M 21q22.3 C3N-00390 . . . . . . . . . 2.20 D T B B U N L T N 0.216 T T T 0.061 0.455 0.159 0.904 T T T T T T 2.451 22.300 0.979 D N -0.173 1.955 -0.036 2.239 1.000 0.707 0.696 0.658 0.714 . 4.430 4.430 1.226 0.989 0.520 1.000 0.996 0.993 958 . . . . AGPAT3 404 1 189 55 0.225409836065574 TRUE NA +ENSG00000160285.15 . BCM GRCh38.p13 chr21 46215237 46215237 + C C A Missense_Mutation SNP ENST00000397728.8 exon9 c.G954T p.K318N exonic ENSG00000160285.15 . nonsynonymous SNV ENSG00000160285.15:ENST00000397728.8:exon9:c.G954T:p.K318N 21q22.3 C3N-00390 . . . . . . . . . 3.20 T T P B N D L T N 0.396 T T T 0.059 0.463 0.446 0.371 T T T T T D 1.305 14.420 0.977 D N -0.412 1.356 -0.342 1.480 0.999 0.732 0.702 0.744 0.714 . 5.510 4.630 0.658 0.100 -0.187 0.141 0.211 0.127 934 Squalene_cyclase,_N-terminal . . . LSS 296 0 137 32 0.189349112426035 TRUE TRUE +ENSG00000100330.16 . BCM GRCh38.p13 chr22 30009096 30009096 + G G A Missense_Mutation SNP ENST00000401950.7 exon12 c.G1088A p.R363Q exonic ENSG00000100330.16 . nonsynonymous SNV ENSG00000100330.16:ENST00000401950.7:exon12:c.G1088A:p.R363Q 22q12.2 C3N-00390 4.943e-05 0 0 0 0 1.498e-05 0 0.0003 rs776577601 20.20 D D D D D D M D D 0.740 D D D 0.816 0.558 0.935 2.102 D D D D D D 4.239 29.000 1.000 D D 0.932 11.908 0.925 14.877 1.000 0.732 0.744 0.744 0.714 . 5.840 5.840 9.602 1.167 0.676 1.000 1.000 1.000 321 Protein-tyrosine_phosphatase,_catalytic;Myotubularin-like_phosphatase_domain . . . MTMR3 238 1 147 35 0.192307692307692 TRUE NA +ENSG00000106948.16 . BCM GRCh38.p13 chr9 114362534 114362534 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000106948.16 ENST00000307564.8:exon8:c.1789-1G>T . . 9q32 C3N-00390 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.101 33 0.995 D . 1.030 14.906 0.865 12.322 1.000 0.284 0.279 0.232 0.090 0.970 4.940 4.940 4.023 1.026 0.597 1.000 0.987 0.989 702 . . . . AKNA 91 0 51 10 0.163934426229508 TRUE TRUE +ENSG00000196581.11 . BCM GRCh38.p13 chr1 4712473 4712473 + C C T Silent SNP ENST00000378191.5 exon2 c.C603T p.Y201Y exonic ENSG00000196581.11 . synonymous SNV ENSG00000196581.11:ENST00000378191.5:exon2:c.C603T:p.Y201Y 1p36.32 C3N-00390 2.077e-05 0 0 0 0 3.763e-05 0 0 rs779289737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AJAP1 149 0 82 18 0.18 TRUE NA +ENSG00000115183.15 . BCM GRCh38.p13 chr2 159175063 159175063 + C C T Silent SNP ENST00000263635.8 exon12 c.C1614T p.Y538Y exonic ENSG00000115183.15 . synonymous SNV ENSG00000115183.15:ENST00000263635.8:exon12:c.C1614T:p.Y538Y 2q24.2 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TANC1 465 0 352 68 0.161904761904762 TRUE NA +ENSG00000206549.13 . BCM GRCh38.p13 chr3 46712423 46712423 + C C T Silent SNP ENST00000315170.13 exon6 c.G981A p.L327L exonic ENSG00000206549.13;ENSG00000283706.2 . synonymous SNV ENSG00000283706.2:ENST00000315170.13:exon6:c.G981A:p.L327L,ENSG00000206549.13:ENST00000460241.2:exon11:c.G981A:p.L327L 3p21.31 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC109583.1 292 0 122 33 0.212903225806452 TRUE TRUE +ENSG00000155511.18 . BCM GRCh38.p13 chr5 153811138 153811138 + G G A Silent SNP ENST00000285900.10 exon16 c.G2634A p.V878V exonic ENSG00000155511.18 . synonymous SNV ENSG00000155511.18:ENST00000285900.10:exon16:c.G2634A:p.V878V 5q33.2 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIA1 380 0 296 61 0.170868347338936 TRUE NA +ENSG00000064201.16 . BCM GRCh38.p13 chr11 2316666 2316666 + C C A Silent SNP ENST00000182290.9 exon8 c.C718A p.R240R exonic ENSG00000064201.16 . synonymous SNV ENSG00000064201.16:ENST00000182290.9:exon8:c.C718A:p.R240R 11p15.5 C3N-00390 . . . . . . . . . 4.17 D D P P U D . T D 0.379 T T T 0.121 0.563 0.725 . . . T T T T 0.172 2.810 0.979 N N 0.024 2.598 -0.309 1.545 0.086 0.581 0.574 0.576 0.613 . 3.750 0.320 -0.992 -0.452 0.529 0.000 0.011 0.051 988 . . . ID=COSV51718538;OCCURENCE=1(lung) TSPAN32 13 0 8 4 0.333333333333333 TRUE NA +ENSG00000174527.9 . BCM GRCh38.p13 chr12 109396459 109396459 + G G A Silent SNP ENST00000310903.9 exon4 c.G366A p.E122E exonic ENSG00000174527.9 . synonymous SNV ENSG00000174527.9:ENST00000310903.9:exon4:c.G366A:p.E122E 12q24.11 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60450625;OCCURENCE=2(skin) MYO1H 151 0 90 24 0.210526315789474 TRUE TRUE +ENSG00000135720.13 . BCM GRCh38.p13 chr16 66736186 66736186 + C C T Silent SNP ENST00000258198.7 exon5 c.G588A p.Q196Q exonic ENSG00000135720.13 . synonymous SNV ENSG00000135720.13:ENST00000258198.7:exon5:c.G588A:p.Q196Q 16q22.1 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNC1LI2 200 0 199 21 0.0954545454545455 TRUE TRUE +ENSG00000091592.16 . BCM GRCh38.p13 chr17 5553493 5553493 + G G T Silent SNP ENST00000572272.6 exon5 c.C2421A p.T807T exonic ENSG00000091592.16 . synonymous SNV ENSG00000091592.16:ENST00000572272.6:exon5:c.C2421A:p.T807T 17p13.2 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLRP1 101 0 69 14 0.168674698795181 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8956784 8956784 + G G C Silent SNP ENST00000397910.8 exon3 c.C19986G p.T6662T exonic ENSG00000181143.15 . synonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.C19986G:p.T6662T 19p13.2 C3N-00390 1.658e-05 0 0 0 0 3e-05 0 0 rs538165352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC16 71 0 53 15 0.220588235294118 TRUE NA +ENSG00000115875.19 . BCM GRCh38.p13 chr2 38749346 38749346 + C C T Intron SNP NA NA NA NA intronic ENSG00000115875.19 . . . 2p22.1 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRSF7 156 0 142 53 0.271794871794872 TRUE NA +ENSG00000250490.1 . BCM GRCh38.p13 chr5 6312407 6312407 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000250490.1 . . . 5p15.31 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02145 63 1 34 8 0.19047619047619 TRUE NA +ENSG00000205318.5 . BCM GRCh38.p13 chr6 10634662 10634663 + TT TT - RNA DEL NA NA NA NA ncRNA_exonic ENSG00000205318.5 . . . 6p24.2 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GCNT2P1 82 0 47 19 0.287878787878788 TRUE NA +ENSG00000105974.12 . BCM GRCh38.p13 chr7 116525141 116525141 + C C A Intron SNP NA NA NA NA intronic ENSG00000105974.12 . . . 7q31.2 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAV1 579 0 447 83 0.156603773584906 TRUE NA +ENSG00000180913.3 . BCM GRCh38.p13 chr11 6128677 6128677 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000180913.3 . . . 11p15.4 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR56B3P 180 0 78 46 0.370967741935484 TRUE NA +ENSG00000185650.10 . BCM GRCh38.p13 chr14 68793033 68793033 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000185650.10 ENST00000439696.3:c.-95G>A . . 14q24.1 C3N-00390 . . . . . . . . . 4.12 D . . . . D . . N . T T . 0.019 0.326 0.068 . T . T T D T 2.188 20.800 0.988 D N 0.101 2.890 0.128 2.852 1.000 0.442 0.522 0.522 0.562 . 4.560 3.670 2.985 1.026 0.599 1.000 0.998 0.975 625 . . . . ZFP36L1 169 0 54 24 0.307692307692308 TRUE TRUE +ENSG00000089280.19 . BCM GRCh38.p13 chr16 31194629 31194629 + T T A IGR SNP NA NA NA NA intergenic ENSG00000089280.19;ENSG00000260060.1 dist=3024;dist=1502 . . 16p11.2 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FUS 95 0 214 41 0.16078431372549 TRUE NA +ENSG00000130270.16 . BCM GRCh38.p13 chr19 1805261 1805261 + C C A Intron SNP NA NA NA NA intronic ENSG00000130270.16 . . . 19p13.3 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP8B3 70 1 34 8 0.19047619047619 TRUE NA +ENSG00000183888.4 . BCM GRCh38.p13 chr1 16006092 16006093 + GG GG TA Unknown MNP ENST00000329454.2 exon2 c.256_257delinsTA p.G86_D169del exonic ENSG00000183888.4 . stopgain ENSG00000183888.4:ENST00000329454.2:exon2:c.256_257delinsTA:p.G86_D169del 1p36.13 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRARP 131 1 71 18 0.202247191011236 TRUE TRUE +ENSG00000186063.13 . BCM GRCh38.p13 chr1 222712269 222712270 + TA TA GG Unknown MNP ENST00000340020.11 exon1 c.48_49delinsCC p.F16F exonic ENSG00000186063.13 . nonframeshift substitution ENSG00000186063.13:ENST00000340020.11:exon1:c.48_49delinsCC:p.F16F 1q41 C3N-00390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AIDA 211 0 99 24 0.195121951219512 TRUE NA +ENSG00000107404.20 . BCM GRCh38.p13 chr1 1342070 1342070 + C C T Missense_Mutation SNP ENST00000378888.10 exon4 c.G449A p.R150H exonic ENSG00000107404.20 . nonsynonymous SNV ENSG00000107404.20:ENST00000378888.10:exon4:c.G449A:p.R150H 1p36.33 C3N-00437 . . . . . . . . . 6.20 T T D P D D L T N 0.453 T T T 0.095 0.454 0.745 0.501 T T T T D D 3.220 23.900 0.998 D N 0.167 3.160 0.158 2.983 0.671 0.635 0.644 0.723 0.700 . 3.660 3.660 2.923 1.001 0.519 0.831 0.984 0.766 799 Dishevelled_protein_domain . . ID=COSV101127283;OCCURENCE=2(large_intestine) DVL1 111 0 63 14 0.181818181818182 TRUE NA +ENSG00000130940.15 . BCM GRCh38.p13 chr1 10659977 10659986 + GCCCTCCCCG GCCCTCCCCG - Frame_Shift_Del DEL ENST00000377022.8 exon6 c.1056_1065del p.G353Afs*73 exonic ENSG00000130940.15 . frameshift deletion ENSG00000130940.15:ENST00000377022.8:exon6:c.1056_1065del:p.G353Afs*73 1p36.22 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASZ1 277 0 178 47 0.208888888888889 TRUE TRUE +ENSG00000084636.18 . BCM GRCh38.p13 chr1 31684582 31684582 + G G A Missense_Mutation SNP ENST00000373672.8 exon31 c.C2101T p.R701W exonic ENSG00000084636.18 . nonsynonymous SNV ENSG00000084636.18:ENST00000373672.8:exon31:c.C2101T:p.R701W 1p35.2 C3N-00437 0.0002 0.0020 0.0003 0 0 0 0 0 rs201165083 10.20 D D D P N N L D N 0.368 D D D 0.209 . 0.886 0.163 T D T T T D 3.539 24.800 0.997 D N 0.253 3.549 0.228 3.325 1.000 0.615 0.610 0.659 0.639 . 5.340 5.340 0.541 1.176 0.676 0.023 0.026 0.204 749 . . . ID=COSV54708479;OCCURENCE=1(prostate) COL16A1 117 0 89 14 0.135922330097087 TRUE TRUE +ENSG00000016602.9 . BCM GRCh38.p13 chr1 86571185 86571185 + G G A Missense_Mutation SNP ENST00000370563.3 exon8 c.G1291A p.A431T exonic ENSG00000016602.9 . nonsynonymous SNV ENSG00000016602.9:ENST00000370563.3:exon8:c.G1291A:p.A431T 1p22.3 C3N-00437 8.295e-06 0 0 0 0 1.501e-05 0 0 rs763904592 3.20 D T B B N N M T N 0.151 T T T 0.108 0.659 0.286 0.185 T T T T D T 1.475 15.580 0.998 N N -0.334 1.531 -0.371 1.425 0.000 0.500 0.624 0.574 0.530 . 6.170 4.240 0.847 0.161 0.676 0.006 0.766 0.912 803 von_Willebrand_factor,_type_A . . . CLCA4 67 0 74 16 0.177777777777778 TRUE NA +ENSG00000143631.11 . BCM GRCh38.p13 chr1 152308392 152308392 + C C G Missense_Mutation SNP ENST00000368799.2 exon3 c.G6494C p.G2165A exonic ENSG00000143631.11 . nonsynonymous SNV ENSG00000143631.11:ENST00000368799.2:exon3:c.G6494C:p.G2165A 1q21.3 C3N-00437 . . . . . . . . . 3.18 T . P B . N M T D 0.117 T T T 0.041 0.415 0.188 . T T T T D T 0.753 8.937 0.634 N N -0.836 0.604 -1.057 0.421 0.000 0.487 0.574 0.574 0.564 . 2.740 -1.860 0.615 0.804 0.291 0.001 0.006 0.022 563 . . . . FLG 494 1 583 33 0.0535714285714286 NA TRUE +ENSG00000198797.7 . BCM GRCh38.p13 chr1 177281028 177281028 + G G T Missense_Mutation SNP ENST00000361539.5 exon8 c.G1852T p.V618L exonic ENSG00000198797.7 . nonsynonymous SNV ENSG00000198797.7:ENST00000361539.5:exon8:c.G1852T:p.V618L 1q25.2 C3N-00437 . . . . . . . . rs759731438 6.20 T T B B D D N T N 0.075 T T T 0.103 0.365 0.068 0.250 T T T T D D 1.412 15.160 0.351 D D -0.551 1.078 -0.245 1.683 0.998 0.554 0.563 0.602 0.621 . 5.250 5.250 2.767 1.176 0.618 0.996 1.000 0.997 729 . . . . BRINP2 152 0 138 30 0.178571428571429 TRUE TRUE +ENSG00000076356.7 . BCM GRCh38.p13 chr1 208040018 208040018 + C C T Missense_Mutation SNP ENST00000367033.4 exon23 c.G4327A p.A1443T exonic ENSG00000076356.7 . nonsynonymous SNV ENSG00000076356.7:ENST00000367033.4:exon23:c.G4327A:p.A1443T 1q32.2 C3N-00437 0.0002 0.0012 0 0 0 0 0 0.0004 rs12240051 5.20 T T B B D D N T N 0.429 T T T 0.194 . 0.587 1.547 D T T T T T 2.006 19.300 0.367 D D -0.341 1.515 -0.066 2.147 1.000 0.672 0.610 0.602 0.711 . 5.370 5.370 4.618 1.026 0.599 1.000 0.997 0.993 878 Plexin,_cytoplasmic_RasGAP_domain . . . PLXNA2 162 0 171 28 0.14070351758794 TRUE NA +ENSG00000117625.13 . BCM GRCh38.p13 chr1 211289283 211289283 + C C - Frame_Shift_Del DEL ENST00000367005.8 exon7 c.652delC p.P218Lfs*6 exonic ENSG00000117625.13 . frameshift deletion ENSG00000117625.13:ENST00000367005.8:exon7:c.652delC:p.P218Lfs*6 1q32.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RCOR3 313 0 225 57 0.202127659574468 TRUE TRUE +ENSG00000084674.15 . BCM GRCh38.p13 chr2 21006087 21006087 + C C A Missense_Mutation SNP ENST00000233242.5 exon26 c.G10781T p.W3594L exonic ENSG00000084674.15 . nonsynonymous SNV ENSG00000084674.15:ENST00000233242.5:exon26:c.G10781T:p.W3594L 2p24.1 C3N-00437 . . . . . . . . . 6.15 T D . . N N . T D 0.565 T T D 0.317 0.706 0.809 0.059 T . T T D . 2.402 22.100 0.981 D D 0.093 2.860 0.220 3.282 1.000 0.554 0.563 0.618 0.564 . 5.750 5.750 2.054 1.026 0.599 0.998 0.993 0.981 861 . . . . APOB 162 0 164 30 0.154639175257732 TRUE TRUE +ENSG00000135953.11 . BCM GRCh38.p13 chr2 102723888 102723888 + G G T Missense_Mutation SNP ENST00000258436.10 exon5 c.C449A p.S150Y exonic ENSG00000135953.11 . nonsynonymous SNV ENSG00000135953.11:ENST00000258436.10:exon5:c.C449A:p.S150Y 2q12.1 C3N-00437 . . . . . . . . . 15.19 D D D D D D M T D 0.973 D T D 0.649 0.684 0.841 0.319 T T D D D D 4.038 27.300 0.994 D . 0.787 8.533 0.674 7.295 1.000 0.651 0.709 0.609 0.636 . 5.170 5.170 9.329 1.083 0.618 1.000 0.900 0.787 794 Major_facilitator_superfamily_domain . . . MFSD9 285 2 237 43 0.153571428571429 TRUE TRUE +ENSG00000153208.17 . BCM GRCh38.p13 chr2 112028355 112028355 + G G A Missense_Mutation SNP ENST00000295408.9 exon19 c.G2491A p.E831K exonic ENSG00000153208.17 . nonsynonymous SNV ENSG00000153208.17:ENST00000295408.9:exon19:c.G2491A:p.E831K 2q13 C3N-00437 3.318e-05 0 0 0 0 0 0 0.0002 rs766094337 7.20 T T P P U D N T D 0.294 T T D 0.260 0.643 0.880 0.177 T D T T T D 3.259 24.000 0.997 D D 0.382 4.232 0.446 4.702 1.000 0.706 0.588 0.710 0.646 . 5.660 5.660 4.467 1.083 0.618 1.000 0.876 0.659 910 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV104599952;OCCURENCE=1(skin) MERTK 229 0 241 15 0.05859375 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178573305 178573305 + - NA T Frame_Shift_Ins NA ENST00000591111.5 exon276 c.67903dupA p.T22635Nfs*4 exonic ENSG00000155657.27 . frameshift insertion ENSG00000155657.27:ENST00000591111.5:exon276:c.67903dupA:p.T22635Nfs*4 2q31.2 C3N-00437 . . . . . . . . rs971618751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN NA NA NA NA NA NA NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146592 10146592 + T T - Frame_Shift_Del DEL ENST00000256474.3 exon2 c.419delT p.L140Pfs*19 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon2:c.419delT:p.L140Pfs*19 3p25.3 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56568261;OCCURENCE=1(kidney) VHL 389 0 235 105 0.308823529411765 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47121909 47121909 + A A C Missense_Mutation SNP ENST00000409792.3 exon3 c.T2727G p.D909E exonic ENSG00000181555.20 . nonsynonymous SNV ENSG00000181555.20:ENST00000409792.3:exon3:c.T2727G:p.D909E 3p21.31 C3N-00437 . . . . . . . . . 4.20 D T B B N N L D N 0.089 T T D 0.052 0.219 0.711 0.564 T T T T T T 1.413 15.170 0.962 D N -0.466 1.244 -0.325 1.513 1.000 0.707 0.725 0.651 0.714 . 4.980 3.790 0.939 1.312 0.756 0.512 0.999 0.937 13 . . . . SETD2 146 0 77 38 0.330434782608696 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52407983 52407995 + TCCTTCATGCGAC TCCTTCATGCGAC - Frame_Shift_Del DEL ENST00000460680.6 exon5 c.338_350del p.S113Tfs*70 exonic ENSG00000163930.10 . frameshift deletion ENSG00000163930.10:ENST00000460680.6:exon5:c.338_350del:p.S113Tfs*70 3p21.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 400 0 250 76 0.233128834355828 TRUE TRUE +ENSG00000138496.16 . BCM GRCh38.p13 chr3 122558375 122558375 + C C G Missense_Mutation SNP ENST00000360356.6 exon3 c.G108C p.Q36H exonic ENSG00000138496.16 . nonsynonymous SNV ENSG00000138496.16:ENST00000360356.6:exon3:c.G108C:p.Q36H 3q21.1 C3N-00437 . . . . . . . . . 4.19 D D B B N N M T N 0.363 T T T 0.072 0.541 0.210 0.461 . T T T D T 1.189 13.550 0.990 N N -0.760 0.715 -0.724 0.866 0.987 0.707 0.725 0.602 0.636 . 4.300 1.480 0.205 0.130 0.599 0.001 0.286 0.979 464 . . . . PARP9 122 0 81 43 0.346774193548387 TRUE TRUE +ENSG00000172752.14 . BCM GRCh38.p13 chr3 130415648 130415648 + T T C Missense_Mutation SNP ENST00000265379.10 exon23 c.T4765C p.S1589P exonic ENSG00000172752.14 . nonsynonymous SNV ENSG00000172752.14:ENST00000265379.10:exon23:c.T4765C:p.S1589P 3q22.1 C3N-00437 0.6144 0.4070 0.5175 0.2078 0.8235 0.7401 0.6421 0.5712 rs16827497 2.15 T T . . . P . D N 0.025 T T . 0.182 . . 0.035 T T T T T D -0.853 0.019 0.459 N N -1.585 0.059 -1.605 0.074 0.001 0.487 0.574 0.574 0.564 . 3.810 -5.280 -2.725 0.202 -0.117 0.000 0.337 0.025 370 . COL6A4P2;COL6A5;COL6A6 Testis;Esophagus_Mucosa;Artery_Tibial;Thyroid;Heart_Atrial_Appendage ID=COSV55196306;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue),1(lung),1(thyroid) COL6A5 136 0 80 5 0.0588235294117647 NA TRUE +ENSG00000090402.8 . BCM GRCh38.p13 chr3 165074558 165074558 + G G C Missense_Mutation SNP ENST00000264382.8 exon3 c.C228G p.N76K exonic ENSG00000090402.8 . nonsynonymous SNV ENSG00000090402.8:ENST00000264382.8:exon3:c.C228G:p.N76K 3q26.1 C3N-00437 . . . . . . . . . 10.20 D D D D D D H T N 0.465 T T D 0.328 0.788 0.620 0.221 T T T T D T 3.221 23.900 0.997 D N 0.456 4.714 0.334 3.922 0.000 0.487 0.574 0.574 0.564 . 5.180 3.110 1.747 1.106 0.509 1.000 1.000 0.961 897 P-type_trefoil_domain;P-type_trefoil,_conserved_site . . . SI 141 0 157 55 0.259433962264151 TRUE TRUE +ENSG00000145147.20 . BCM GRCh38.p13 chr4 20617461 20617461 + C C G Missense_Mutation SNP ENST00000504154.6 exon36 c.C4159G p.P1387A exonic ENSG00000145147.20 . nonsynonymous SNV ENSG00000145147.20:ENST00000504154.6:exon36:c.C4159G:p.P1387A 4p15.31 C3N-00437 . . . . . . . . . 6.20 T T B B N D N D N 0.451 T T D 0.288 0.464 0.562 0.306 T T T T D D 1.818 17.860 0.861 D N -0.437 1.303 -0.179 1.838 1.000 0.706 0.574 0.653 0.613 . 5.770 4.920 2.390 0.093 0.578 1.000 0.990 0.989 818 EGF-like_domain . . . SLIT2 137 0 148 26 0.149425287356322 TRUE TRUE +ENSG00000109618.12 . BCM GRCh38.p13 chr4 25155119 25155119 + C C A Nonsense_Mutation SNP ENST00000382103.7 exon5 c.G580T p.E194X exonic ENSG00000109618.12 . stopgain ENSG00000109618.12:ENST00000382103.7:exon5:c.G580T:p.E194X 4p15.2 C3N-00437 . . . . . . . . . 5.6 . . . . D A . . . 0.920 . . . . . . . . . D D . . 7.509 38 0.998 D N 1.040 15.242 0.914 14.369 1.000 0.638 0.654 0.653 0.655 . 5.370 5.370 7.461 1.026 0.549 1.000 0.992 0.997 710 . . . . SEPSECS 204 0 172 37 0.177033492822967 TRUE TRUE +ENSG00000249693.3 . BCM GRCh38.p13 chr4 56601055 56601055 + C C - Frame_Shift_Del DEL ENST00000512175.3 exon8 c.1229delC p.T410Ifs*13 exonic ENSG00000249693.3 . frameshift deletion ENSG00000249693.3:ENST00000512175.3:exon8:c.1229delC:p.T410Ifs*13 4q12 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THEGL 142 0 118 23 0.163120567375887 TRUE TRUE +ENSG00000196344.11 . BCM GRCh38.p13 chr4 99415515 99415515 + T T C Missense_Mutation SNP ENST00000209665.8 exon8 c.A1099G p.I367V exonic ENSG00000196344.11 . nonsynonymous SNV ENSG00000196344.11:ENST00000209665.8:exon8:c.A1099G:p.I367V 4q23 C3N-00437 . . . . . . . . . 4.20 T T B B D D L T N 0.176 T T T 0.076 0.618 0.323 0.022 T T T T T D 2.323 21.700 0.888 D N -0.477 1.223 -0.496 1.208 0.002 0.487 0.574 0.574 0.542 . 4.980 2.480 1.652 1.055 0.665 0.998 0.993 0.976 911 . . . . ADH7 85 0 76 26 0.254901960784314 TRUE NA +ENSG00000109436.8 . BCM GRCh38.p13 chr4 140679184 140679184 + C C A Missense_Mutation SNP ENST00000442267.3 exon5 c.G609T p.W203C exonic ENSG00000109436.8 . nonsynonymous SNV ENSG00000109436.8:ENST00000442267.3:exon5:c.G609T:p.W203C 4q31.21 C3N-00437 . . . . . . . . . 20.20 D D D D D D M D D 0.954 D D D 0.892 0.706 0.806 1.768 D D D D D D 4.339 29.900 0.994 D D 0.864 10.172 0.832 11.143 1.000 0.707 0.654 0.602 0.714 . 5.460 5.460 7.905 1.026 0.599 1.000 1.000 0.998 927 GRAM_domain;TCB1D9/TCB1D9B,_PH-GRAM_domain_1 . . . TBC1D9 76 0 71 12 0.144578313253012 TRUE TRUE +ENSG00000039139.9 . BCM GRCh38.p13 chr5 13700649 13700649 + C C G Missense_Mutation SNP ENST00000265104.4 exon78 c.G13714C p.E4572Q exonic ENSG00000039139.9 . nonsynonymous SNV ENSG00000039139.9:ENST00000265104.4:exon78:c.G13714C:p.E4572Q 5p15.2 C3N-00437 . . . . . . . . . 7.19 T . B B D D N T N 0.604 T T D 0.069 0.449 0.467 0.353 T T T T D D 2.540 22.500 0.980 D D -0.051 2.336 0.155 2.971 1.000 0.487 0.574 0.574 0.564 . 5.950 5.080 5.927 1.026 0.599 1.000 1.000 0.988 787 Dynein_heavy_chain_domain . . . DNAH5 304 0 372 43 0.103614457831325 TRUE TRUE +ENSG00000132357.14 . BCM GRCh38.p13 chr5 40843460 40843460 + C C A Missense_Mutation SNP ENST00000254691.10 exon2 c.C592A p.Q198K exonic ENSG00000132357.14 . nonsynonymous SNV ENSG00000132357.14:ENST00000254691.10:exon2:c.C592A:p.Q198K 5p13.1 C3N-00437 . . . . . . . . . 3.20 D D B B N N M T N 0.414 T T T 0.052 0.308 0.363 0.035 T T T T T T 0.963 11.150 0.988 N N -0.520 1.137 -0.450 1.284 1.000 0.554 0.588 0.547 0.631 . 5.230 2.090 -0.037 1.026 0.599 0.081 0.947 0.971 468 . . . . CARD6 78 0 112 26 0.188405797101449 TRUE TRUE +ENSG00000176055.10 . BCM GRCh38.p13 chr5 90461490 90461490 + C C A Missense_Mutation SNP ENST00000316610.7 exon2 c.G517T p.G173C exonic ENSG00000176055.10 . nonsynonymous SNV ENSG00000176055.10:ENST00000316610.7:exon2:c.G517T:p.G173C 5q14.3 C3N-00437 . . . . . . . . . 19.20 D D D D D D H T D 0.933 D D D 0.691 0.914 0.515 1.160 D D D D D D 4.018 27.100 0.996 D D 1.086 16.915 1.020 20.114 1.000 0.693 0.616 0.719 0.564 . 6.080 6.080 7.568 1.026 0.599 1.000 0.999 0.996 777 Metallo-beta-lactamase . . . MBLAC2 125 0 78 94 0.546511627906977 TRUE TRUE +ENSG00000240184.7 . BCM GRCh38.p13 chr5 141476444 141476444 + T T A Missense_Mutation SNP ENST00000308177.5 exon1 c.T328A p.L110M exonic ENSG00000240184.7 . nonsynonymous SNV ENSG00000240184.7:ENST00000308177.5:exon1:c.T328A:p.L110M 5q31.3 C3N-00437 . . . . . . . . . 6.18 D D D D . D L T N 0.289 T T T 0.160 0.521 0.082 1.452 . T T T D T 3.286 24.100 0.992 N N 0.078 2.799 0.044 2.517 1.000 0.726 0.484 0.594 0.373 . 5.650 1.890 -0.276 -0.155 -0.120 0.358 0.997 0.986 770 Cadherin-like;Cadherin,_N-terminal . . . PCDHGC3 334 2 234 198 0.458333333333333 TRUE TRUE +ENSG00000145990.11 . BCM GRCh38.p13 chr6 13364817 13364817 + C C T Missense_Mutation SNP ENST00000379287.4 exon2 c.G1099A p.E367K exonic ENSG00000145990.11 . nonsynonymous SNV ENSG00000145990.11:ENST00000379287.4:exon2:c.G1099A:p.E367K 6p24.1 C3N-00437 . . . . . . . . rs771312460 9.20 D D P B D D L T N 0.633 T T D 0.154 0.533 0.742 1.249 T T T T D D 2.843 23.100 0.998 D D 0.418 4.459 0.498 5.141 1.000 0.701 0.577 0.717 0.636 . 5.220 5.220 5.844 1.026 0.599 1.000 0.982 0.908 866 . . . . GFOD1 99 0 106 29 0.214814814814815 TRUE NA +ENSG00000137331.12 . BCM GRCh38.p13 chr6 30744039 30744039 + G G A Missense_Mutation SNP ENST00000259874.6 exon2 c.C368T p.T123I exonic ENSG00000137331.12 . nonsynonymous SNV ENSG00000137331.12:ENST00000259874.6:exon2:c.C368T:p.T123I 6p21.33 C3N-00437 . . . . . . . . rs1014107448 1.20 T D B B N N L T N 0.132 T T T 0.024 0.317 0.082 0.990 T T T T T T 0.732 8.751 0.654 N N -0.957 0.451 -0.998 0.491 1.000 0.726 0.522 0.594 0.562 . 4.030 1.850 -0.070 -0.141 0.676 0.000 0.001 0.005 895 . . . . IER3 285 1 213 69 0.24468085106383 TRUE TRUE +ENSG00000204394.13 . BCM GRCh38.p13 chr6 31780125 31780125 + C C T Missense_Mutation SNP ENST00000375663.8 exon26 c.G2954A p.R985H exonic ENSG00000204394.13 . nonsynonymous SNV ENSG00000204394.13:ENST00000375663.8:exon26:c.G2954A:p.R985H 6p21.33 C3N-00437 1.657e-05 0 0 0 0 3.019e-05 0 0 rs758873284 12.19 D D D D D D M T D 0.762 T T D 0.359 . 0.553 1.477 T T T T D . 4.186 28.500 1.000 D D 0.700 7.125 0.634 6.678 1.000 0.707 0.702 0.725 0.714 . 5.330 4.460 5.556 1.026 0.599 1.000 1.000 0.997 895 Methionyl/Valyl/Leucyl/Isoleucyl-tRNA_synthetase,_anticodon-binding;Valyl_tRNA_synthetase,_anticodon-binding_domain . . . VARS1 147 0 148 17 0.103030303030303 TRUE NA +ENSG00000001036.14 . BCM GRCh38.p13 chr6 143503967 143503967 + G G T Missense_Mutation SNP ENST00000002165.11 exon3 c.C698A p.A233E exonic ENSG00000001036.14 . nonsynonymous SNV ENSG00000001036.14:ENST00000002165.11:exon3:c.C698A:p.A233E 6q24.2 C3N-00437 0.1855 0.0421 0.1020 0.0034 0.1946 0.2664 0.1984 0.0986 rs11155297 9.19 D T D D D P M T D 0.286 T T . 0.279 . . 0.558 T T T T T D 3.284 24.100 0.952 D D 0.332 3.948 0.183 3.099 1.000 0.707 0.725 0.644 0.714 . 5.620 3.810 7.763 1.176 0.676 1.000 0.003 0.003 769 . ADAT2;VDAC1P8;FUCA2;PEX3 Skin_Not_Sun_Exposed_Suprapubic;Colon_Transverse;Brain_Cerebellar_Hemisphere;Colon_Sigmoid;Cells_Cultured_fibroblasts;Breast_Mammary_Tissue;Heart_Left_Ventricle;Esophagus_Gastroesophageal_Junction;Esophagus_Mucosa;Artery_Tibial;Muscle_Skeletal;Adipose_Visceral_Omentum;Artery_Aorta;Pituitary;Thyroid;Esophagus_Muscularis;Liver;Brain_Cerebellum;Adipose_Subcutaneous;Prostate;Nerve_Tibial;Whole_Blood;Lung;Pancreas;Ovary;Skin_Sun_Exposed_Lower_leg;Stomach ID=COSV50019718;OCCURENCE=1(large_intestine),1(prostate),2(lung) FUCA2 112 0 105 6 0.0540540540540541 NA TRUE +ENSG00000181220.17 . BCM GRCh38.p13 chr7 149475464 149475464 + T T C Missense_Mutation SNP ENST00000340622.8 exon7 c.A855G p.I285M exonic ENSG00000181220.17 . nonsynonymous SNV ENSG00000181220.17:ENST00000340622.8:exon7:c.A855G:p.I285M 7q36.1 C3N-00437 . . . . . . . . . 7.20 D D D D D N N T N 0.365 T T T 0.143 0.307 0.611 1.562 T T T T D T 2.743 22.900 0.988 D N 0.068 2.761 -0.025 2.276 0.538 0.672 0.702 0.723 0.636 . 4.740 1.380 -0.115 0.082 0.661 0.440 0.998 0.999 934 . . . . ZNF746 66 0 42 6 0.125 TRUE TRUE +ENSG00000156509.14 . BCM GRCh38.p13 chr8 100141158 100141158 + G G A Missense_Mutation SNP ENST00000428847.3 exon2 c.C1096T p.P366S exonic ENSG00000156509.14 . nonsynonymous SNV ENSG00000156509.14:ENST00000428847.3:exon2:c.C1096T:p.P366S 8q22.2 C3N-00437 . . . . . . . . . 0.20 T T B B N N N T N 0.055 T T T 0.011 0.191 0.124 0.082 T T T T T T 0.151 2.583 0.318 N N -1.136 0.275 -1.078 0.399 1.000 0.554 0.588 0.602 0.621 . 5.570 1.580 0.036 -0.166 -0.105 0.002 0.839 0.737 0 . . . ID=COSV71053744;OCCURENCE=1(large_intestine) FBXO43 177 0 287 31 0.0974842767295598 TRUE TRUE +ENSG00000181790.11 . BCM GRCh38.p13 chr8 142526581 142526581 + G G A Missense_Mutation SNP ENST00000517894.5 exon24 c.G3352A p.V1118M exonic ENSG00000181790.11 . nonsynonymous SNV ENSG00000181790.11:ENST00000517894.5:exon24:c.G3352A:p.V1118M 8q24.3 C3N-00437 1.06e-05 0 0 0 0 1.867e-05 0 0 rs781741541 6.17 T T . . U D . T N 0.349 T T D 0.248 0.663 0.256 1.753 T T T T D D 3.257 24.000 0.997 D D 0.364 4.131 0.352 4.031 1.000 0.696 0.588 0.723 0.613 . 4.100 4.100 5.461 1.079 0.672 1.000 0.988 0.976 970 GPCR,_family_2-like . . . ADGRB1 238 0 330 36 0.0983606557377049 TRUE NA +ENSG00000071894.17 . BCM GRCh38.p13 chr8 144397624 144397624 + C C G Missense_Mutation SNP ENST00000616140.2 exon22 c.G2248C p.D750H exonic ENSG00000071894.17 . nonsynonymous SNV ENSG00000071894.17:ENST00000616140.2:exon22:c.G2248C:p.D750H 8q24.3 C3N-00437 . . . . . . . . . 8.16 . D D P D D L . . 0.489 T T T 0.149 0.180 0.711 . D T T T D . 3.555 24.900 0.995 D D 0.563 5.563 0.565 5.806 1.000 0.672 0.702 0.723 0.711 . 5.100 5.100 3.571 0.947 0.549 0.901 0.562 0.866 940 . . . . CPSF1 13 0 10 13 0.565217391304348 TRUE TRUE +ENSG00000041982.16 . BCM GRCh38.p13 chr9 115036141 115036141 + T T A Missense_Mutation SNP ENST00000350763.9 exon21 c.A5613T p.K1871N exonic ENSG00000041982.16 . nonsynonymous SNV ENSG00000041982.16:ENST00000350763.9:exon21:c.A5613T:p.K1871N 9q33.1 C3N-00437 . . . . . . . . . 8.20 T T D D D N L T D 0.620 T T T 0.105 0.502 0.515 0.714 T T T T D D 2.635 22.700 0.976 D D -0.141 2.049 -0.132 1.959 1.000 0.539 0.552 0.607 0.564 . 5.380 0.150 0.070 1.138 0.665 0.943 0.997 0.955 547 Fibronectin_type_III . . . TNC 143 1 72 41 0.36283185840708 TRUE TRUE +ENSG00000185863.8 . BCM GRCh38.p13 chr9 137171740 137171740 + C C T Missense_Mutation SNP ENST00000413619.3 exon2 c.G125A p.R42H exonic ENSG00000185863.8 . nonsynonymous SNV ENSG00000185863.8:ENST00000413619.3:exon2:c.G125A:p.R42H 9q34.3 C3N-00437 8.76e-05 0 0 0 0 0 0 0.0001 rs772030467 5.12 D D . . . D L . D 0.189 . . D . . 0.067 0.001 . T T T . T 3.473 24.600 1.000 N N . . . . 1.000 0.598 0.578 0.596 0.639 . 5.030 3.160 1.117 1.026 0.599 0.739 0.691 0.823 994 . . . . TMEM210 79 0 63 11 0.148648648648649 TRUE NA +ENSG00000123240.17 . BCM GRCh38.p13 chr10 13133534 13133534 + G G T Missense_Mutation SNP ENST00000378747.8 exon14 c.G1565T p.G522V exonic ENSG00000123240.17 . nonsynonymous SNV ENSG00000123240.17:ENST00000378747.8:exon14:c.G1565T:p.G522V 10p13 C3N-00437 . . . . . . . . . 10.20 T T P P D D L D N 0.729 T T D 0.491 0.138 0.969 0.792 T T D D D D 3.099 23.600 0.988 D D 0.476 4.851 0.576 5.933 0.996 0.706 0.725 0.710 0.714 . 6.030 6.030 6.875 1.176 0.676 1.000 0.052 0.773 946 . . . . OPTN 343 1 286 96 0.25130890052356 TRUE TRUE +ENSG00000172538.7 . BCM GRCh38.p13 chr10 49131997 49131997 + C C T Missense_Mutation SNP ENST00000311787.6 exon2 c.G468A p.M156I exonic ENSG00000172538.7 . nonsynonymous SNV ENSG00000172538.7:ENST00000311787.6:exon2:c.G468A:p.M156I 10q11.23 C3N-00437 . . . . . . . . . 1.20 T T P B N N M T N 0.159 T T T 0.043 0.321 0.092 . T T T T T T 1.498 15.720 0.972 N N -0.125 2.098 -0.099 2.050 0.997 0.497 0.547 0.547 0.542 . 5.630 1.520 0.231 1.005 0.596 0.995 0.993 0.748 . . . . . FAM170B 226 0 164 73 0.308016877637131 TRUE TRUE +ENSG00000072422.17 . BCM GRCh38.p13 chr10 60910911 60910911 + T T C Missense_Mutation SNP ENST00000337910.10 exon4 c.A272G p.K91R exonic ENSG00000072422.17 . nonsynonymous SNV ENSG00000072422.17:ENST00000337910.10:exon4:c.A272G:p.K91R 10q21.2 C3N-00437 . . . . . . . . . 7.20 D T B B D D N T N 0.580 T T T 0.174 0.446 0.446 1.186 T T T T D D 3.331 24.200 0.998 D D -0.082 2.233 0.176 3.066 1.000 0.706 0.492 0.710 0.723 . 5.830 5.830 7.925 1.138 0.660 1.000 1.000 0.999 754 . . . . RHOBTB1 132 0 142 9 0.0596026490066225 TRUE TRUE +ENSG00000107669.17 . BCM GRCh38.p13 chr10 121836735 121836735 + G G C Missense_Mutation SNP ENST00000224652.10 exon10 c.C1240G p.P414A exonic ENSG00000107669.17 . nonsynonymous SNV ENSG00000107669.17:ENST00000224652.10:exon10:c.C1240G:p.P414A 10q26.13 C3N-00437 . . . . . . . . . 13.19 D D D D D D M . D 0.571 T T T 0.542 0.654 0.368 0.562 T D T T D D 3.498 24.700 0.995 D D 0.335 3.963 0.365 4.122 0.549 0.732 0.634 0.710 0.728 . 5.660 3.780 6.848 0.224 0.676 1.000 0.994 0.980 874 N-end_rule_aminoacyl_transferase,_C-terminal . . . ATE1 145 0 187 33 0.15 TRUE TRUE +ENSG00000108001.14 . BCM GRCh38.p13 chr10 129962991 129962991 + C C G Missense_Mutation SNP ENST00000355311.10 exon3 c.G306C p.E102D exonic ENSG00000108001.14 . nonsynonymous SNV ENSG00000108001.14:ENST00000355311.10:exon3:c.G306C:p.E102D 10q26.3 C3N-00437 . . . . . . . . . 10.20 D D B B D D M T N 0.607 T T T 0.123 0.155 0.515 1.487 D T T T D D 3.640 25.200 0.995 D D 0.328 3.925 0.406 4.401 1.000 0.726 0.596 0.504 0.604 . 5.420 4.510 3.774 0.962 0.524 1.000 1.000 0.999 975 Transcription_factor_COE,_DNA-binding_domain . . . EBF3 192 1 223 13 0.0550847457627119 TRUE NA +ENSG00000171813.14 . BCM GRCh38.p13 chr10 132404944 132404944 + C C G Missense_Mutation SNP ENST00000305233.6 exon2 c.C444G p.I148M exonic ENSG00000171813.14 . nonsynonymous SNV ENSG00000171813.14:ENST00000305233.6:exon2:c.C444G:p.I148M 10q26.3 C3N-00437 . . . . . . . . . 8.20 D D D P U D M T N 0.582 T T D 0.133 0.362 0.068 1.502 T T T T D T 3.222 23.900 0.993 D N 0.210 3.347 0.096 2.717 0.994 0.713 0.588 0.636 0.655 . 3.920 2.980 0.691 0.798 0.587 0.999 0.994 0.572 994 . . . . PWWP2B 92 0 93 5 0.0510204081632653 TRUE NA +ENSG00000070047.13 . BCM GRCh38.p13 chr11 607412 607412 + A A C Missense_Mutation SNP ENST00000264555.10 exon14 c.A1956C p.R652S exonic ENSG00000070047.13 . nonsynonymous SNV ENSG00000070047.13:ENST00000264555.10:exon14:c.A1956C:p.R652S 11p15.5 C3N-00437 . . . . . . . . . 2.20 T T B B N N N D N 0.084 T T D 0.116 0.296 0.068 0.100 T T T T T T -0.953 0.010 0.480 N N -1.774 0.026 -1.864 0.026 1.000 0.707 0.702 0.702 0.714 . 3.610 -7.210 -1.053 -0.454 -0.114 0.000 0.000 0.003 923 . . . . PHRF1 231 0 186 42 0.184210526315789 TRUE TRUE +ENSG00000109851.7 . BCM GRCh38.p13 chr11 20160311 20160311 + C C T Missense_Mutation SNP ENST00000524983.3 exon1 c.G14A p.G5D exonic ENSG00000109851.7 . nonsynonymous SNV ENSG00000109851.7:ENST00000524983.3:exon1:c.G14A:p.G5D 11p15.1 C3N-00437 . . . . . . . . . 10.18 T T . . D D N D N 0.296 D D D 0.362 0.262 0.910 . T T T T D D 2.971 23.400 0.996 D D 0.456 4.710 0.547 5.619 1.000 0.598 0.563 0.378 0.639 . 5.650 5.650 6.028 1.026 0.549 1.000 0.995 0.970 934 . . . . DBX1 40 0 26 10 0.277777777777778 TRUE TRUE +ENSG00000069482.7 . BCM GRCh38.p13 chr11 68688888 68688888 + G G T Missense_Mutation SNP ENST00000265643.4 exon5 c.G263T p.R88L exonic ENSG00000069482.7 . nonsynonymous SNV ENSG00000069482.7:ENST00000265643.4:exon5:c.G263T:p.R88L 11q13.2 C3N-00437 . . . . . . . . . 5.20 T T P P D N L T D 0.748 T T T 0.240 0.731 0.694 0.438 T D T T D T 2.030 19.490 0.995 D N 0.008 2.540 -0.115 2.004 0.844 0.672 0.610 0.702 0.542 . 3.940 3.020 1.456 -0.133 -0.123 0.879 0.019 0.006 809 Galanin_message_associated_peptide_(GMAP) . . . GAL 127 1 99 16 0.139130434782609 TRUE TRUE +ENSG00000048649.13 . BCM GRCh38.p13 chr11 77701994 77702000 + TCTTTTG TCTTTTG - Frame_Shift_Del DEL ENST00000308488.10 exon6 c.1229_1235del p.T410Sfs*3 exonic ENSG00000048649.13 . frameshift deletion ENSG00000048649.13:ENST00000308488.10:exon6:c.1229_1235del:p.T410Sfs*3 11q14.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSF1 178 0 126 16 0.112676056338028 TRUE TRUE +ENSG00000111665.11 . BCM GRCh38.p13 chr12 6849805 6849805 + A A G Missense_Mutation SNP ENST00000538862.6 exon4 c.T304C p.S102P exonic ENSG00000111665.11 . nonsynonymous SNV ENSG00000111665.11:ENST00000538862.6:exon4:c.T304C:p.S102P 12p13.31 C3N-00437 . . . . . . . . . 0.19 T T B B N N N . N 0.070 T T T 0.027 0.149 0.117 0.221 T T T T T T 1.560 16.120 0.885 N N -1.145 0.268 -1.081 0.396 0.999 0.722 0.672 0.702 0.735 . 5.340 -0.134 0.369 -0.257 -0.054 0.620 0.071 0.319 560 . . . . CDCA3 40 0 60 6 0.0909090909090909 TRUE TRUE +ENSG00000257046.5 . BCM GRCh38.p13 chr12 21067353 21067353 + G G A Missense_Mutation SNP ENST00000593147.5 exon2 c.G85A p.G29S exonic ENSG00000257046.5;ENSG00000257062.6 . nonsynonymous SNV ENSG00000257062.6:ENST00000593147.5:exon2:c.G85A:p.G29S,ENSG00000257046.5:ENST00000540229.1:exon14:c.G1900A:p.G634S 12p12.2 C3N-00437 1.996e-05 0.0002 0 0 0 0 0 0 rs377229801 16.19 D D D D D D H D D 0.901 D D T 0.729 . 0.634 0.048 . T D D D D 4.090 27.700 0.998 D N 0.419 4.463 0.263 3.510 0.000 0.487 0.574 0.574 0.564 . 3.050 3.050 5.639 0.159 -0.454 1.000 0.015 0.002 923 Major_facilitator_superfamily_domain . . ID=COSV67444689;OCCURENCE=1(ovary),1(endometrium) SLCO1B3-SLCO1B7 85 0 159 11 0.0647058823529412 TRUE TRUE +ENSG00000187950.8 . BCM GRCh38.p13 chr12 29495290 29495290 + T T - Frame_Shift_Del DEL ENST00000318184.9 exon4 c.449delA p.K150Sfs*62 exonic ENSG00000187950.8 . frameshift deletion ENSG00000187950.8:ENST00000318184.9:exon4:c.449delA:p.K150Sfs*62 12p11.22 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OVCH1 118 0 159 21 0.116666666666667 TRUE TRUE +ENSG00000173157.17 . BCM GRCh38.p13 chr12 43356486 43356486 + C C T Missense_Mutation SNP ENST00000389420.8 exon38 c.G5641A p.E1881K exonic ENSG00000173157.17 . nonsynonymous SNV ENSG00000173157.17:ENST00000389420.8:exon38:c.G5641A:p.E1881K 12q12 C3N-00437 . . . . . . . . . 1.17 T T . . N N N T N 0.339 T T T 0.101 0.657 0.402 0.058 T . T T T T 1.486 15.640 0.183 D N -0.667 0.870 -0.504 1.195 0.322 0.554 0.574 0.618 0.564 . 5.150 4.250 5.181 0.172 -0.208 0.999 0.681 0.197 877 . . . . ADAMTS20 99 0 155 14 0.0828402366863905 TRUE TRUE +ENSG00000205327.3 . BCM GRCh38.p13 chr12 55493111 55493111 + T T A Missense_Mutation SNP ENST00000548615.1 exon1 c.T734A p.V245E exonic ENSG00000205327.3 . nonsynonymous SNV ENSG00000205327.3:ENST00000548615.1:exon1:c.T734A:p.V245E 12q13.2 C3N-00437 . . . . . . . . rs1007875087 9.20 D D D D D N H T D 0.704 T T T 0.163 0.647 0.191 0.022 T T T T D D 2.582 22.600 0.990 N N 0.551 5.461 0.373 4.172 0.000 0.487 0.574 0.547 0.564 . 5.300 4.150 0.210 0.895 0.650 0.000 0.345 0.025 742 GPCR,_rhodopsin-like,_7TM . . . OR6C68 85 0 122 8 0.0615384615384615 TRUE NA +ENSG00000171435.14 . BCM GRCh38.p13 chr12 117525149 117525149 + G G A Missense_Mutation SNP ENST00000339824.7 exon14 c.C1922T p.S641L exonic ENSG00000171435.14 . nonsynonymous SNV ENSG00000171435.14:ENST00000339824.7:exon14:c.C1922T:p.S641L 12q24.22 C3N-00437 1.666e-05 0 0 0 0 1.504e-05 0 6.154e-05 rs531883128 13.20 D T D P D D L T N 0.586 D D D 0.640 0.398 0.792 0.672 D T T D D D 4.136 28.100 0.997 D D 0.329 3.934 0.355 4.057 1.000 0.563 0.627 0.602 0.636 . 4.790 3.910 10.003 1.176 0.676 1.000 0.996 0.996 921 . . . ID=COSV56666669;OCCURENCE=1(central_nervous_system),1(stomach) KSR2 97 0 153 9 0.0555555555555556 TRUE TRUE +ENSG00000158023.10 . BCM GRCh38.p13 chr12 121958442 121958442 + A A C Missense_Mutation SNP ENST00000288912.9 exon12 c.A1901C p.N634T exonic ENSG00000158023.10 . nonsynonymous SNV ENSG00000158023.10:ENST00000288912.9:exon12:c.A1901C:p.N634T 12q24.31 C3N-00437 . . . . . . . . . 9.19 D D D P D N . T D 0.455 T T D 0.347 0.598 0.834 0.391 T T T T D T 3.784 25.800 0.995 D D 0.577 5.700 0.537 5.511 1.000 0.615 0.610 0.659 0.568 . 5.260 5.260 7.900 1.312 0.756 1.000 0.953 0.985 777 WD40-repeat-containing_domain . . . WDR66 291 0 283 176 0.383442265795207 TRUE TRUE +ENSG00000211899.10 . BCM GRCh38.p13 chr14 105856155 105856155 + T T G Missense_Mutation SNP ENST00000637539.2 exon1 c.A64C p.S22R exonic ENSG00000211899.10 . nonsynonymous SNV ENSG00000211899.10:ENST00000637539.2:exon1:c.A64C:p.S22R 14q32.33 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHM 247 0 150 100 0.4 TRUE TRUE +ENSG00000188549.12 . BCM GRCh38.p13 chr15 40337868 40337868 + G G A Missense_Mutation SNP ENST00000559313.5 exon6 c.C671T p.P224L exonic ENSG00000188549.12 . nonsynonymous SNV ENSG00000188549.12:ENST00000559313.5:exon6:c.C671T:p.P224L 15q15.1 C3N-00437 0.0002 0 0 0 0 0.0003 0 0 rs749903593 5.18 D D D P N N . T D 0.341 T T D 0.097 . 0.438 0.371 . T T T T T 2.822 23.100 0.997 N N -0.008 2.481 -0.187 1.818 1.000 0.539 0.616 0.506 0.563 . 4.230 4.230 1.293 1.176 0.676 0.003 0.002 0.028 702 . . . . CCDC9B 46 0 26 14 0.35 TRUE NA +ENSG00000103852.13 . BCM GRCh38.p13 chr15 99228629 99228629 + G G T Missense_Mutation SNP ENST00000394132.7 exon5 c.C84A p.F28L exonic ENSG00000103852.13 . nonsynonymous SNV ENSG00000103852.13:ENST00000394132.7:exon5:c.C84A:p.F28L 15q26.3 C3N-00437 . . . . . . . . . 0.20 T T B B N N N T N 0.099 T T T 0.237 0.203 0.151 0.042 T T T T T T 0.221 3.361 0.613 N N -1.373 0.128 -1.249 0.244 0.047 0.707 0.634 0.659 0.714 . 5.870 1.210 -0.254 1.176 0.676 0.000 0.071 0.008 964 . . . . TTC23 118 0 103 9 0.0803571428571429 TRUE TRUE +ENSG00000048471.14 . BCM GRCh38.p13 chr16 12477856 12477856 + C C G Missense_Mutation SNP ENST00000566228.6 exon19 c.C2175G p.N725K exonic ENSG00000048471.14 . nonsynonymous SNV ENSG00000048471.14:ENST00000566228.6:exon19:c.C2175G:p.N725K 16p13.13 C3N-00437 . . . . . . . . . 7.18 T T . . D N L T D 0.864 T T D 0.096 . 0.380 . D T T T D D 2.760 22.900 0.994 D N 0.137 3.035 0.172 3.049 0.487 0.732 0.744 0.659 0.655 . 5.400 3.240 1.962 1.026 0.599 1.000 1.000 0.981 952 Phox_homologous_domain;SNX29,_PX_domain . . . SNX29 83 0 63 15 0.192307692307692 TRUE TRUE +ENSG00000090861.16 . BCM GRCh38.p13 chr16 70253936 70253936 + C C A Missense_Mutation SNP ENST00000261772.13 exon18 c.G2503T p.A835S exonic ENSG00000090861.16 . nonsynonymous SNV ENSG00000090861.16:ENST00000261772.13:exon18:c.G2503T:p.A835S 16q22.1 C3N-00437 8.237e-06 0 0 0.0001 0 0 0 0 rs775304067 8.20 T T B B D D M T N 0.569 T T D 0.130 0.272 0.792 0.237 T T T T D D 3.156 23.800 0.989 D D 0.130 3.005 0.226 3.312 1.000 0.675 0.698 0.672 0.636 . 5.530 5.530 4.730 1.026 0.599 1.000 0.971 0.261 152 DHHA1_domain . . . AARS1 543 0 438 170 0.279605263157895 TRUE NA +ENSG00000067191.16 . BCM GRCh38.p13 chr17 39197493 39197493 + C C T Translation_Start_Site SNP ENST00000394303.8 exon1 c.G3A p.M1? exonic ENSG00000067191.16 . startloss ENSG00000067191.16:ENST00000394303.8:exon1:c.G3A:p.M1? 17q12 C3N-00437 . . . . . . . . . 11.18 D D P P N D . T N 0.924 D D D 0.597 0.977 0.969 . . T D D D D 3.353 24.300 0.996 D N 0.413 4.425 0.447 4.711 1.000 0.658 0.484 0.522 0.604 . 4.350 4.350 6.162 0.938 0.524 1.000 1.000 0.999 592 . . . . CACNB1 140 0 128 17 0.117241379310345 TRUE TRUE +ENSG00000161594.7 . BCM GRCh38.p13 chr17 41841908 41841908 + - NA T Nonsense_Mutation SNP ENST00000293303.5 exon2 c.281dupT p.E95* exonic ENSG00000161594.7 . stopgain ENSG00000161594.7:ENST00000293303.5:exon2:c.281dupT:p.E95* 17q21.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL10 NA NA NA NA NA NA NA +ENSG00000005882.12 . BCM GRCh38.p13 chr17 50109381 50109381 + A A T Missense_Mutation SNP ENST00000503176.6 exon10 c.A1064T p.D355V exonic ENSG00000005882.12 . nonsynonymous SNV ENSG00000005882.12:ENST00000503176.6:exon10:c.A1064T:p.D355V 17q21.33 C3N-00437 . . . . . . . . . 14.20 D D D D D D L T D 0.783 T T D 0.506 0.762 0.755 1.704 T D D T D D 4.207 28.700 0.992 D D 0.565 5.585 0.457 4.791 0.999 0.706 0.710 0.723 0.636 . 4.850 4.850 5.392 1.312 0.756 1.000 0.148 0.938 807 Histidine_kinase/HSP90-like_ATPase;Histidine_kinase_domain . . . PDK2 108 1 69 46 0.4 TRUE TRUE +ENSG00000072062.14 . BCM GRCh38.p13 chr19 14097614 14097614 + G G A Missense_Mutation SNP ENST00000308677.9 exon7 c.C607T p.P203S exonic ENSG00000072062.14 . nonsynonymous SNV ENSG00000072062.14:ENST00000308677.9:exon7:c.C607T:p.P203S 19p13.12 C3N-00437 . . . . . . . . . 16.20 D D D D D D M T D 0.920 T T D 0.516 0.888 0.843 2.142 D T D D D D 4.005 27.000 0.999 D D 0.795 8.687 0.688 7.539 1.000 0.744 0.725 0.630 0.714 . 4.680 4.680 9.743 1.083 0.618 1.000 0.983 0.973 851 Protein_kinase_domain . . . PRKACA 66 1 48 5 0.0943396226415094 TRUE TRUE +ENSG00000160113.5 . BCM GRCh38.p13 chr19 17235984 17235984 + G G A Missense_Mutation SNP ENST00000291442.3 exon3 c.C455T p.A152V exonic ENSG00000160113.5;ENSG00000269095.1 . nonsynonymous SNV ENSG00000160113.5:ENST00000291442.3:exon3:c.C455T:p.A152V,ENSG00000269095.1:ENST00000594059.1:exon5:c.C95T:p.A32V 19p13.11 C3N-00437 . . . . . . . . rs940052447 3.20 T T B B U N N D N 0.122 T T D 0.194 0.349 0.795 1.198 D T T T T T 2.121 20.300 0.959 N N -0.951 0.458 -0.894 0.629 1.000 0.658 0.484 0.522 0.604 . 2.700 1.520 0.150 0.565 0.465 0.000 0.636 0.039 900 . . . . NR2F6 57 0 104 6 0.0545454545454545 TRUE NA +ENSG00000131409.13 . BCM GRCh38.p13 chr19 50518942 50518942 + C C A Missense_Mutation SNP ENST00000652263.1 exon3 c.G771T p.K257N exonic ENSG00000131409.13 . nonsynonymous SNV ENSG00000131409.13:ENST00000652263.1:exon3:c.G771T:p.K257N 19q13.33 C3N-00437 . . . . . . . . . 9.20 T D D D U D N T D 0.641 T T T 0.230 0.502 0.737 2.004 T T T T D D 3.087 23.600 0.999 D D 0.384 4.246 0.356 4.058 0.999 0.660 0.694 0.780 0.639 . 4.050 3.010 0.945 1.026 0.599 1.000 1.000 0.996 716 . . . . LRRC4B 220 0 209 75 0.264084507042254 TRUE TRUE +ENSG00000124201.15 . BCM GRCh38.p13 chr20 49249246 49249246 + G G A Missense_Mutation SNP ENST00000396105.6 exon14 c.C3778T p.L1260F exonic ENSG00000124201.15 . nonsynonymous SNV ENSG00000124201.15:ENST00000396105.6:exon14:c.C3778T:p.L1260F 20q13.13 C3N-00437 . . . . . . . . . 16.20 D T D D D D M D D 0.284 D D D 0.623 0.439 0.554 0.926 T T D D D D 3.519 24.800 0.996 D N 0.447 4.652 0.388 4.277 1.000 0.722 0.702 0.702 0.735 . 6.170 5.220 3.121 1.176 0.676 1.000 0.222 0.508 900 . . . . ZNFX1 337 0 275 67 0.195906432748538 TRUE TRUE +ENSG00000100101.15 . BCM GRCh38.p13 chr22 37686426 37686426 + G G T Missense_Mutation SNP ENST00000359114.9 exon1 c.G34T p.D12Y exonic ENSG00000100101.15;ENSG00000273899.5 . nonsynonymous SNV ENSG00000273899.5:ENST00000359114.9:exon1:c.G34T:p.D12Y,ENSG00000100101.15:ENST00000455236.4:exon1:c.G13T:p.D5Y 22q13.1 C3N-00437 . . . . . . . . . 4.20 D T P P N N L D N 0.395 T T D 0.346 0.189 0.881 0.219 T T T T D T 3.705 25.400 0.882 N N -0.257 1.722 -0.382 1.404 1.000 0.442 0.522 0.522 0.373 . 5.180 3.060 0.600 1.176 0.671 0.005 0.890 0.591 929 . . . . Z83844.1 153 0 133 33 0.198795180722892 TRUE TRUE +ENSG00000130943.7 . BCM GRCh38.p13 chr22 46260049 46260049 + C C A Missense_Mutation SNP ENST00000253255.7 exon1 c.G3274T p.D1092Y exonic ENSG00000130943.7 . nonsynonymous SNV ENSG00000130943.7:ENST00000253255.7:exon1:c.G3274T:p.D1092Y 22q13.31 C3N-00437 . . . . . . . . . 3.20 D T B B N N M T D 0.223 T T T 0.033 0.448 0.230 . T T T T T T 0.625 7.756 0.976 N N -1.154 0.262 -1.301 0.208 1.000 0.598 0.563 0.596 0.530 . 5.200 -7.830 -0.973 0.085 0.599 0.000 0.007 0.019 939 . . . . PKDREJ 240 0 202 72 0.262773722627737 TRUE TRUE +ENSG00000198205.6 . BCM GRCh38.p13 chrX 57909694 57909694 + C C T Missense_Mutation SNP ENST00000358697.5 exon1 c.G727A p.E243K exonic ENSG00000198205.6 . nonsynonymous SNV ENSG00000198205.6:ENST00000358697.5:exon1:c.G727A:p.E243K Xp11.21 C3N-00437 . . . . . . . . . 2.19 T T B B N N M T N 0.189 T T T 0.016 0.360 0.360 0.713 D T T T T T 0.901 10.440 0.988 N . . . . . 1.000 . . . . . 3.490 1.670 0.770 -0.040 0.493 0.013 0.059 0.030 434 . . . . ZXDA 120 0 111 21 0.159090909090909 TRUE TRUE +ENSG00000269743.3 . BCM GRCh38.p13 chrX 104104663 104104663 + T T A Missense_Mutation SNP ENST00000594199.3 exon2 c.A595T p.I199F exonic ENSG00000269743.3 . nonsynonymous SNV ENSG00000269743.3:ENST00000594199.3:exon2:c.A595T:p.I199F Xq22.2 C3N-00437 . . . . . . . . . 5.17 . T B B D D M T . 0.463 T T D 0.450 0.634 0.158 . T T T T D T 2.303 21.600 0.981 N . . . . . 0.004 . . . . . 4.180 4.180 0.470 1.138 0.665 0.192 0.993 0.989 471 . . . . SLC25A53 170 0 177 36 0.169014084507042 NA TRUE +ENSG00000189108.13 . BCM GRCh38.p13 chrX 105195509 105195509 + G G T Missense_Mutation SNP ENST00000372582.6 exon3 c.G117T p.K39N exonic ENSG00000189108.13 . nonsynonymous SNV ENSG00000189108.13:ENST00000372582.6:exon3:c.G117T:p.K39N Xq22.3 C3N-00437 . . . . . . . . . 10.19 D T D P D D M T N 0.337 T T D 0.435 0.506 0.956 2.121 D T T T D D 3.614 25.100 0.999 D . . . . . 0.927 . . . . . 5.590 4.730 6.396 1.176 0.676 1.000 1.000 0.998 17 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IL1RAPL2 134 0 139 28 0.167664670658683 TRUE TRUE +ENSG00000175718.10 . BCM GRCh38.p13 chrX 115192266 115192266 + G G A Missense_Mutation SNP ENST00000424776.5 exon1 c.G2825A p.R942H exonic ENSG00000175718.10 . nonsynonymous SNV ENSG00000175718.10:ENST00000424776.5:exon1:c.G2825A:p.R942H Xq23 C3N-00437 . . . . . . . . rs868941610 3.18 T D D P . D N T N 0.208 T T T 0.066 0.403 0.067 . T T T T T T 1.469 15.540 0.996 N . . . . . 0.002 . . . . . 0.149 0.149 -0.524 0.378 0.320 0.012 0.009 0.009 937 . . . ID=COSV57762046;OCCURENCE=1(liver) RBMXL3 148 0 131 19 0.126666666666667 TRUE TRUE +ENSG00000147256.12 . BCM GRCh38.p13 chrX 131081759 131081759 + G G T Missense_Mutation SNP ENST00000276211.10 exon2 c.G94T p.V32L exonic ENSG00000147256.12 . nonsynonymous SNV ENSG00000147256.12:ENST00000276211.10:exon2:c.G94T:p.V32L Xq26.1 C3N-00437 . . . . . . . . . 3.19 T D B B N D L T N 0.353 T T T 0.088 0.275 0.267 0.586 T T T T T T 2.152 20.500 0.984 D . . . . . 1.000 . . . . . 4.050 4.050 4.188 1.176 0.618 1.000 0.997 0.555 512 . . . . ARHGAP36 283 3 276 43 0.134796238244514 TRUE TRUE +ENSG00000065526.12 . BCM GRCh38.p13 chr1 15920869 15920869 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000065526.12 ENST00000375759.8:exon9:c.1636-1G>T . . 1p36.13 C3N-00437 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.627 34 0.995 D . 1.246 28.765 1.108 27.999 1.000 0.156 0.156 0.126 0.221 0.992 5.570 5.570 9.454 1.167 0.618 1.000 0.998 0.946 425 . . . . SPEN 60 0 45 15 0.25 TRUE TRUE +ENSG00000188739.15 . BCM GRCh38.p13 chr1 235160986 235160986 + G G A Silent SNP ENST00000408888.8 exon2 c.C135T p.G45G exonic ENSG00000188739.15 . synonymous SNV ENSG00000188739.15:ENST00000408888.8:exon2:c.C135T:p.G45G 1q42.3 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM34 185 0 177 14 0.0732984293193717 TRUE TRUE +ENSG00000130508.11 . BCM GRCh38.p13 chr2 1744387 1744387 + C C T Silent SNP ENST00000252804.9 exon1 c.G69A p.G23G exonic ENSG00000130508.11 . synonymous SNV ENSG00000130508.11:ENST00000252804.9:exon1:c.G69A:p.G23G 2p25.3 C3N-00437 . . . . . . . . rs995355920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PXDN 231 0 369 48 0.115107913669065 TRUE NA +ENSG00000159239.13 . BCM GRCh38.p13 chr2 74414986 74414986 + A A C Silent SNP ENST00000517883.2 exon2 c.T906G p.S302S exonic ENSG00000159239.13;ENSG00000284308.1 . synonymous SNV ENSG00000159239.13:ENST00000517883.2:exon2:c.T906G:p.S302S,ENSG00000284308.1:ENST00000612891.4:exon4:c.T1092G:p.S364S 2p13.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC005041.1 75 0 68 14 0.170731707317073 TRUE TRUE +ENSG00000008197.5 . BCM GRCh38.p13 chr6 50729002 50729002 + T T C Silent SNP ENST00000008391.4 exon4 c.T745C p.L249L exonic ENSG00000008197.5 . synonymous SNV ENSG00000008197.5:ENST00000008391.4:exon4:c.T745C:p.L249L 6p12.3 C3N-00437 1.649e-05 0 0 0.0001 0 0 0 6.071e-05 rs549396552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TFAP2D 112 0 99 23 0.188524590163934 TRUE NA +ENSG00000146674.15 . BCM GRCh38.p13 chr7 45920960 45920960 + G G A Silent SNP ENST00000275521.10 exon1 c.C181T p.L61L exonic ENSG00000146674.15 . synonymous SNV ENSG00000146674.15:ENST00000275521.10:exon1:c.C181T:p.L61L 7p12.3 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFBP3 36 0 45 14 0.23728813559322 TRUE TRUE +ENSG00000105967.16 . BCM GRCh38.p13 chr7 115956749 115956749 + A A T Silent SNP ENST00000265440.12 exon4 c.T312A p.I104I exonic ENSG00000105967.16 . synonymous SNV ENSG00000105967.16:ENST00000265440.12:exon4:c.T312A:p.I104I 7q31.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TFEC 116 0 115 33 0.222972972972973 TRUE TRUE +ENSG00000151224.13 . BCM GRCh38.p13 chr10 80276568 80276568 + A A G Silent SNP ENST00000372213.8 exon6 c.T576C p.N192N exonic ENSG00000151224.13 . synonymous SNV ENSG00000151224.13:ENST00000372213.8:exon6:c.T576C:p.N192N 10q22.3 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAT1A 462 1 437 47 0.0971074380165289 TRUE TRUE +ENSG00000095539.15 . BCM GRCh38.p13 chr10 100983882 100983882 + C C T Silent SNP ENST00000370250.8 exon14 c.C2268T p.I756I exonic ENSG00000095539.15 . synonymous SNV ENSG00000095539.15:ENST00000370250.8:exon14:c.C2268T:p.I756I 10q24.31 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEMA4G 76 0 47 15 0.241935483870968 TRUE TRUE +ENSG00000095110.8 . BCM GRCh38.p13 chr11 114530534 114530534 + G G A Silent SNP ENST00000534921.2 exon6 c.C474T p.D158D exonic ENSG00000095110.8 . synonymous SNV ENSG00000095110.8:ENST00000534921.2:exon6:c.C474T:p.D158D 11q23.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NXPE1 149 0 114 39 0.254901960784314 NA TRUE +ENSG00000139618.15 . BCM GRCh38.p13 chr13 32363467 32363467 + A A G Silent SNP ENST00000380152.7 exon18 c.A8265G p.G2755G exonic ENSG00000139618.15 . synonymous SNV ENSG00000139618.15:ENST00000380152.7:exon18:c.A8265G:p.G2755G 13q13.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRCA2 110 0 97 20 0.170940170940171 TRUE TRUE +ENSG00000102786.15 . BCM GRCh38.p13 chr13 51430372 51430372 + A A C Silent SNP ENST00000311234.9 exon4 c.T351G p.P117P exonic ENSG00000102786.15 . synonymous SNV ENSG00000102786.15:ENST00000311234.9:exon4:c.T351G:p.P117P 13q14.3 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INTS6 43 0 37 8 0.177777777777778 TRUE TRUE +ENSG00000254585.5 . BCM GRCh38.p13 chr15 23644602 23644602 + C C A Silent SNP ENST00000650528.1 exon1 c.G3141T p.V1047V exonic ENSG00000254585.5 . synonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.G3141T:p.V1047V 15q11.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEL2 230 0 167 34 0.169154228855721 TRUE TRUE +ENSG00000157423.18 . BCM GRCh38.p13 chr16 70892370 70892370 + C C T Silent SNP ENST00000393567.7 exon56 c.G9408A p.L3136L exonic ENSG00000157423.18 . synonymous SNV ENSG00000157423.18:ENST00000393567.7:exon56:c.G9408A:p.L3136L 16q22.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HYDIN 24 0 26 8 0.235294117647059 NA TRUE +ENSG00000133193.12 . BCM GRCh38.p13 chr17 73209604 73209604 + G G A Silent SNP ENST00000403627.7 exon3 c.C486T p.L162L exonic ENSG00000133193.12 . synonymous SNV ENSG00000133193.12:ENST00000403627.7:exon3:c.C486T:p.L162L 17q25.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM104A 475 0 320 113 0.260969976905312 TRUE TRUE +ENSG00000183765.22 . BCM GRCh38.p13 chr22 28734632 28734632 + G G T Silent SNP ENST00000404276.6 exon2 c.C90A p.G30G exonic ENSG00000183765.22 . synonymous SNV ENSG00000183765.22:ENST00000404276.6:exon2:c.C90A:p.G30G 22q12.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHEK2 159 0 140 40 0.222222222222222 TRUE TRUE +ENSG00000133422.13 . BCM GRCh38.p13 chr22 30928079 30928079 + C C T Silent SNP ENST00000397641.8 exon25 c.G2970A p.T990T exonic ENSG00000133422.13 . synonymous SNV ENSG00000133422.13:ENST00000397641.8:exon25:c.G2970A:p.T990T 22q12.2 C3N-00437 8.246e-06 9.628e-05 0 0 0 0 0 0 rs781327828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53203448;OCCURENCE=1(stomach) MORC2 365 0 392 67 0.145969498910675 TRUE TRUE +ENSG00000189306.11 . BCM GRCh38.p13 chr22 42515193 42515193 + G G A Silent SNP ENST00000323013.7 exon4 c.C418T p.L140L exonic ENSG00000189306.11 . synonymous SNV ENSG00000189306.11:ENST00000323013.7:exon4:c.C418T:p.L140L 22q13.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RRP7A 140 0 129 22 0.145695364238411 NA TRUE +ENSG00000183304.10 . BCM GRCh38.p13 chrX 8795384 8795384 + C C A Silent SNP ENST00000543214.1 exon7 c.G525T p.L175L exonic ENSG00000183304.10 . synonymous SNV ENSG00000183304.10:ENST00000543214.1:exon7:c.G525T:p.L175L Xp22.31 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM9A 81 0 53 33 0.383720930232558 TRUE TRUE +ENSG00000173698.18 . BCM GRCh38.p13 chrX 18991032 18991032 + C C T Silent SNP ENST00000379869.8 exon29 c.G2886A p.E962E exonic ENSG00000173698.18 . synonymous SNV ENSG00000173698.18:ENST00000379869.8:exon29:c.G2886A:p.E962E Xp22.13 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRG2 82 0 59 30 0.337078651685393 TRUE TRUE +ENSG00000155966.14 . BCM GRCh38.p13 chrX 148662339 148662339 + C C G Silent SNP ENST00000370460.7 exon3 c.C612G p.P204P exonic ENSG00000155966.14 . synonymous SNV ENSG00000155966.14:ENST00000370460.7:exon3:c.C612G:p.P204P Xq28 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AFF2 203 1 250 33 0.11660777385159 TRUE TRUE +ENSG00000155966.14 . BCM GRCh38.p13 chrX 148662675 148662675 + G G T Silent SNP ENST00000370460.7 exon3 c.G948T p.G316G exonic ENSG00000155966.14 . synonymous SNV ENSG00000155966.14:ENST00000370460.7:exon3:c.G948T:p.G316G Xq28 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AFF2 205 0 193 32 0.142222222222222 TRUE TRUE +ENSG00000249237.5 . BCM GRCh38.p13 chr1 84345257 84345257 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000249237.5 . . . 1p31.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL359273.2 77 0 65 20 0.235294117647059 TRUE NA +ENSG00000198625.13 . BCM GRCh38.p13 chr1 204537920 204537920 + A A C Intron SNP NA NA NA NA intronic ENSG00000198625.13 . . . 1q32.1 C3N-00437 . . . . . . . . . 2.14 T D . . . D . T N . T T . 0.022 0.276 0.536 . . T T T T T 1.620 16.500 0.974 N N -0.376 1.436 -0.475 1.242 0.761 0.566 0.616 0.487 0.714 . 5.240 -0.149 0.690 1.302 0.691 0.023 0.997 0.981 558 . . . . MDM4 133 0 99 29 0.2265625 TRUE TRUE +ENSG00000258910.3 . BCM GRCh38.p13 chr2 118833932 118833932 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000258910.3 . . . 2q14.2 C3N-00437 . . . . . . . . rs925586377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01956 231 0 171 79 0.316 TRUE NA +ENSG00000248724.6 . BCM GRCh38.p13 chr3 132721769 132721769 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000248724.6 . . . 3q22.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPHP3-AS1 93 0 76 9 0.105882352941176 TRUE TRUE +ENSG00000155508.13 . BCM GRCh38.p13 chr5 154867724 154867724 + G G A Intron SNP NA NA NA NA intronic ENSG00000155508.13 . . . 5q33.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNOT8 27 0 31 14 0.311111111111111 TRUE NA +ENSG00000247317.3 . BCM GRCh38.p13 chr8 143018218 143018218 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000247317.3 . . . 8q24.3 C3N-00437 . . . . . . . . . 1.7 . D . . . . . . . 0.056 . . T . . 0.147 . . . T T . T 0.457 6.052 0.913 N N . . . . 1.000 0.111 0.074 0.120 0.175 . 1.430 0.448 -1.826 -0.121 -0.241 0.000 0.007 0.010 982 . . . . LY6E-DT 305 1 188 241 0.561771561771562 TRUE NA +ENSG00000180539.8 . BCM GRCh38.p13 chr9 137034775 137034775 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000180539.8 . . . 9q34.3 C3N-00437 8.419e-06 0 0 0 0 1.546e-05 0 0 rs371943249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C9orf139 271 1 155 93 0.375 TRUE NA +ENSG00000165325.13 . BCM GRCh38.p13 chr11 93352371 93352371 + T T G Intron SNP NA NA NA NA intronic ENSG00000165325.13 . . . 11q21 C3N-00437 0.3683 0.1474 0.3370 0.2803 . 0.2805 0.3190 0.4085 rs10831029 1.10 . . . . . P . . D 0.140 T T . 0.023 . . . . . T T T T 0.045 1.642 0.419 N N -0.742 0.744 -0.927 0.584 0.000 0.554 0.574 0.618 0.564 . 3.130 0.721 -0.255 -0.358 -0.123 0.000 0.000 0.001 654 . 0.000 Esophagus_Mucosa;Nerve_Tibial;Pancreas . DEUP1 102 0 81 5 0.0581395348837209 TRUE NA +ENSG00000089094.19 . BCM GRCh38.p13 chr12 121430277 121430277 + T T G 3'UTR SNP NA NA NA NA UTR3 ENSG00000089094.19 ENST00000377071.9:c.*11A>C . . 12q24.31 C3N-00437 . . . . . . . . . 4.13 D . . . . D . T N 0.565 T T D 0.083 0.471 0.493 . . T T T T T 2.088 19.920 0.942 D . 0.093 2.860 0.132 2.871 0.966 0.672 0.702 0.702 0.711 . 5.610 4.260 0.224 1.138 0.665 0.590 1.000 0.963 599 . . . . KDM2B 340 0 452 61 0.118908382066277 TRUE TRUE +ENSG00000259642.2 . BCM GRCh38.p13 chr15 79922979 79922979 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000259642.2 . . . 15q25.1 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ST20-AS1 124 0 66 17 0.204819277108434 TRUE NA +ENSG00000265257.5 . BCM GRCh38.p13 chr18 9104201 9104201 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000265257.5 . . . 18p11.22 C3N-00437 . . . . . . . . . 3.14 D . . . . D . T N 0.304 T T T 0.062 0.874 0.217 . . T T T T D 0.986 11.450 0.945 N N -0.701 0.812 -0.885 0.641 1.000 0.493 0.587 0.695 0.404 . 2.300 -1.000 0.578 -0.256 -0.106 0.035 0.003 0.821 553 . . . . AP005263.1 169 0 117 23 0.164285714285714 TRUE NA +ENSG00000267062.1 . BCM GRCh38.p13 chr19 12800863 12800863 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000267062.1 . . . 19p13.13 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC018761.2 168 1 196 17 0.07981220657277 TRUE NA +ENSG00000284428.1 . BCM GRCh38.p13 chr19 23262047 23262047 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000284428.1 . . . 19p12 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092329.4 75 0 64 15 0.189873417721519 TRUE NA +ENSG00000198959.12 . BCM GRCh38.p13 chr20 38146608 38146608 + G G A Intron SNP NA NA NA NA intronic ENSG00000198959.12 . . . 20q11.23 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TGM2 120 0 124 28 0.184210526315789 TRUE NA +ENSG00000147100.11 . BCM GRCh38.p13 chrX 74421637 74421637 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000147100.11 ENST00000587091.6:c.-1G>A . . Xq13.2 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC16A2 329 0 410 32 0.0723981900452489 TRUE NA +ENSG00000186416.16 . BCM GRCh38.p13 chrX 119603475 119603475 + G G T IGR SNP NA NA NA NA intergenic ENSG00000186416.16;ENSG00000125354.23 dist=10325;dist=14164 . . Xq24 C3N-00437 . . . . . . . . . 0.13 T . . . . N . T N 0.108 T T T 0.015 0.370 0.196 0.918 T . T T T T 0.184 2.948 0.469 N . . . . . 1.000 . . . . . 3.730 1.900 0.143 0.127 -0.179 0.017 0.918 0.830 309 . . . . NKRF 127 0 149 24 0.138728323699422 TRUE TRUE +ENSG00000171435.14 . BCM GRCh38.p13 chr12 117525123 117525124 + TG TG CT Unknown MNP ENST00000339824.7 exon14 c.1947_1948delinsAG p.S650G exonic ENSG00000171435.14 . nonframeshift substitution ENSG00000171435.14:ENST00000339824.7:exon14:c.1947_1948delinsAG:p.S650G 12q24.22 C3N-00437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KSR2 149 0 221 35 0.13671875 TRUE TRUE +ENSG00000160714.10 . BCM GRCh38.p13 chr1 154553057 154553057 + T T - Frame_Shift_Del DEL ENST00000292211.5 exon5 c.704delA p.K235Rfs*8 exonic ENSG00000160714.10 . frameshift deletion ENSG00000160714.10:ENST00000292211.5:exon5:c.704delA:p.K235Rfs*8 1q21.3 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBE2Q1 188 0 75 18 0.193548387096774 TRUE TRUE +ENSG00000162896.6 . BCM GRCh38.p13 chr1 206932549 206932549 + C C G Missense_Mutation SNP ENST00000356495.5 exon8 c.G1915C p.A639P exonic ENSG00000162896.6 . nonsynonymous SNV ENSG00000162896.6:ENST00000356495.5:exon8:c.G1915C:p.A639P 1q32.1 C3N-00491 . . . . . . . . . 3.20 D D D B N N L T N 0.320 T T T 0.069 0.267 0.068 0.699 T T T T T T 1.637 16.610 0.995 N N -0.189 1.907 -0.280 1.606 1.000 0.601 0.597 0.547 0.613 . 5.510 4.560 0.452 0.123 0.599 0.000 0.001 0.002 798 . . . . PIGR 200 0 95 10 0.0952380952380952 TRUE TRUE +ENSG00000197520.10 . BCM GRCh38.p13 chr1 222749949 222749949 + G G T Missense_Mutation SNP ENST00000445590.3 exon4 c.G368T p.G123V exonic ENSG00000197520.10 . nonsynonymous SNV ENSG00000197520.10:ENST00000445590.3:exon4:c.G368T:p.G123V 1q41 C3N-00491 . . . . . . . . rs376729517 2.20 T T D P U N M T N 0.093 T T T 0.053 0.123 0.122 0.261 T T T T T T 1.294 14.350 0.950 N N -0.402 1.378 -0.598 1.049 0.033 0.534 0.492 0.686 0.584 . 5.160 1.810 0.022 0.092 -0.135 0.000 0.022 0.142 803 . . . . FAM177B 390 0 183 29 0.136792452830189 TRUE NA +ENSG00000081692.12 . BCM GRCh38.p13 chr1 227734738 227734739 + TC TC - Frame_Shift_Del DEL ENST00000366758.7 exon2 c.478_479del p.D160Lfs*50 exonic ENSG00000081692.12 . frameshift deletion ENSG00000081692.12:ENST00000366758.7:exon2:c.478_479del:p.D160Lfs*50 1q42.13 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JMJD4 374 0 160 25 0.135135135135135 TRUE TRUE +ENSG00000183780.13 . BCM GRCh38.p13 chr1 234309199 234309199 + T T A Missense_Mutation SNP ENST00000366617.3 exon3 c.T500A p.L167Q exonic ENSG00000183780.13 . nonsynonymous SNV ENSG00000183780.13:ENST00000366617.3:exon3:c.T500A:p.L167Q 1q42.2 C3N-00491 . . . . . . . . . 16.20 D D D D D D M T D 0.935 T T D 0.613 0.625 0.281 1.623 D T D D D D 4.115 27.900 0.996 D D 0.776 8.336 0.766 9.200 1.000 0.554 0.588 0.602 0.530 . 5.580 5.580 7.955 1.049 0.665 1.000 1.000 1.000 969 EamA_domain . . . SLC35F3 420 0 199 32 0.138528138528139 TRUE TRUE +ENSG00000115816.15 . BCM GRCh38.p13 chr2 37211912 37211912 + A A C Missense_Mutation SNP ENST00000234170.10 exon12 c.T2731G p.F911V exonic ENSG00000115816.15 . nonsynonymous SNV ENSG00000115816.15:ENST00000234170.10:exon12:c.T2731G:p.F911V 2p22.2 C3N-00491 . . . . . . . . . 6.20 T T D P D D M T N 0.505 T T T 0.196 0.367 0.478 0.106 T T T T D T 2.765 23.000 0.979 D N 0.377 4.206 0.305 3.745 1.000 0.707 0.725 0.725 0.711 . 6.030 4.850 3.414 1.312 0.756 1.000 0.999 0.968 526 . . . . CEBPZ 108 0 75 22 0.22680412371134 TRUE TRUE +ENSG00000168878.19 . BCM GRCh38.p13 chr2 85663846 85663846 + C C T Missense_Mutation SNP ENST00000519937.7 exon7 c.G674A p.G225D exonic ENSG00000168878.19 . nonsynonymous SNV ENSG00000168878.19:ENST00000519937.7:exon7:c.G674A:p.G225D 2p11.2 C3N-00491 . . . . . . . . . 8.20 T D P B N D M D N 0.487 D T D 0.508 0.617 0.875 1.012 T T D T D T 2.714 22.900 0.993 N N 0.063 2.741 0.132 2.871 0.999 0.428 0.547 0.547 0.632 . 5.340 4.410 0.687 0.130 0.599 0.938 0.984 0.423 711 Saposin_B_type_domain . . . SFTPB 174 0 60 24 0.285714285714286 TRUE TRUE +ENSG00000144057.15 . BCM GRCh38.p13 chr2 106843388 106843388 + G G C Missense_Mutation SNP ENST00000409382.7 exon2 c.C590G p.S197C exonic ENSG00000144057.15 . nonsynonymous SNV ENSG00000144057.15:ENST00000409382.7:exon2:c.C590G:p.S197C 2q12.3 C3N-00491 . . . . . . . . . 5.20 T T D P N N L T N 0.365 T T D 0.102 0.393 0.395 0.954 T T T T D T 3.131 23.700 0.985 D D 0.462 4.755 0.408 4.417 0.969 0.646 0.574 0.645 0.564 . 5.310 4.370 5.413 1.101 0.590 0.998 0.623 0.749 872 . . . . ST6GAL2 350 0 145 21 0.126506024096386 TRUE NA +ENSG00000188542.10 . BCM GRCh38.p13 chr2 240560839 240560839 + C C G Missense_Mutation SNP ENST00000405954.2 exon1 c.C155G p.S52C exonic ENSG00000188542.10 . nonsynonymous SNV ENSG00000188542.10:ENST00000405954.2:exon1:c.C155G:p.S52C 2q37.3 C3N-00491 . . . . . . . . . 13.20 D D D D D D L T D 0.253 T T D 0.412 0.686 0.691 1.067 D T D T D T 3.792 25.800 0.993 D D 0.390 4.284 0.324 3.857 1.000 0.267 0.484 0.240 0.250 . 3.890 3.010 3.593 1.000 0.529 1.000 0.998 0.888 994 Dual_specificity_phosphatase,_catalytic_domain;Dual_specificity_protein_phosphatase_domain . . . DUSP28 255 0 112 26 0.188405797101449 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142109 10142109 + T T C Missense_Mutation SNP ENST00000256474.3 exon1 c.T262C p.W88R exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.T262C:p.W88R 3p25.3 C3N-00491 . . . . . . . . . 18.20 D D D D D D M D D 0.990 D D D 0.851 0.924 1.000 1.452 D D D D D T 4.367 31 0.991 D N 0.570 5.635 0.487 5.039 1.000 0.442 0.522 0.522 0.373 . 5.160 3.980 4.903 0.971 0.576 1.000 0.667 0.616 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56548816;OCCURENCE=7(kidney) VHL 665 1 222 41 0.155893536121673 TRUE TRUE +ENSG00000131386.19 . BCM GRCh38.p13 chr3 16211158 16211158 + G G T Missense_Mutation SNP ENST00000339732.10 exon5 c.G1114T p.D372Y exonic ENSG00000131386.19 . nonsynonymous SNV ENSG00000131386.19:ENST00000339732.10:exon5:c.G1114T:p.D372Y 3p25.1 C3N-00491 . . . . . . . . . 15.20 D D D D D D M T D 0.887 T T D 0.474 0.668 0.654 0.302 T T D D D D 4.339 29.900 0.996 D D 0.885 10.662 0.853 11.895 1.000 0.549 0.563 0.602 0.616 . 5.920 5.920 6.388 1.101 0.590 1.000 0.998 0.997 878 . . . . GALNT15 349 0 119 26 0.179310344827586 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47056829 47056829 + T T - Frame_Shift_Del DEL ENST00000409792.3 exon15 c.6955delA p.I2319Lfs*34 exonic ENSG00000181555.20 . frameshift deletion ENSG00000181555.20:ENST00000409792.3:exon15:c.6955delA:p.I2319Lfs*34 3p21.31 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETD2 143 0 27 7 0.205882352941176 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52648414 52648414 + A A G Missense_Mutation SNP ENST00000296302.11 exon7 c.T743C p.M248T exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon7:c.T743C:p.M248T 3p21.1 C3N-00491 . . . . . . . . . 15.20 D D D D D D M T D 0.929 T T D 0.575 0.882 0.718 0.790 T T D D D D 3.766 25.700 0.988 D D 0.798 8.743 0.793 9.928 1.000 0.732 0.744 0.609 0.714 . 5.680 5.680 8.623 1.312 0.756 1.000 1.000 1.000 28 Bromodomain,_conserved_site;Bromodomain . . . PBRM1 130 0 103 15 0.127118644067797 TRUE TRUE +ENSG00000157500.12 . BCM GRCh38.p13 chr3 57257367 57257367 + A A G Missense_Mutation SNP ENST00000288266.8 exon15 c.A1369G p.I457V exonic ENSG00000157500.12 . nonsynonymous SNV ENSG00000157500.12:ENST00000288266.8:exon15:c.A1369G:p.I457V 3p14.3 C3N-00491 . . . . . . . . . 10.20 D D D P D D M T N 0.530 T T T 0.224 0.311 0.792 0.534 T T T T D D 3.623 25.100 0.999 D D 0.759 8.024 0.763 9.107 1.000 0.707 0.725 0.725 0.662 . 5.680 5.680 8.778 1.312 0.756 1.000 1.000 0.999 237 . . . . APPL1 135 0 71 9 0.1125 TRUE TRUE +ENSG00000051382.9 . BCM GRCh38.p13 chr3 138707281 138707281 + C C T Missense_Mutation SNP ENST00000674063.1 exon11 c.G1408A p.E470K exonic ENSG00000051382.9 . nonsynonymous SNV ENSG00000051382.9:ENST00000674063.1:exon11:c.G1408A:p.E470K 3q22.3 C3N-00491 . . . . . . . . . 10.20 T T P P N D M T N 0.614 T T D 0.378 0.467 0.811 0.587 D T D D D D 3.395 24.400 0.998 D D 0.456 4.708 0.546 5.607 1.000 0.706 0.710 0.659 0.684 . 5.840 5.840 7.347 1.018 0.549 1.000 0.966 0.937 868 Phosphatidylinositol_3-kinase,_C2_domain . . ID=COSV56683158;OCCURENCE=1(breast),3(large_intestine),3(stomach),1(prostate),3(endometrium) PIK3CB 97 0 78 9 0.103448275862069 TRUE TRUE +ENSG00000090534.20 . BCM GRCh38.p13 chr3 184375600 184375600 + C C T Missense_Mutation SNP ENST00000647395.1 exon4 c.G143A p.S48N exonic ENSG00000090534.20 . nonsynonymous SNV ENSG00000090534.20:ENST00000647395.1:exon4:c.G143A:p.S48N 3q27.1 C3N-00491 . . . . . . . . . 6.20 D D B B N D M T N 0.109 T T T 0.089 0.776 0.585 0.193 T T T T D T 1.376 14.920 0.957 D N -0.550 1.079 -0.418 1.340 0.999 0.560 0.563 0.527 0.530 . 5.570 3.790 1.071 0.075 -0.376 1.000 0.949 0.492 882 Erythropoietin/thrombopoeitin,_conserved_site . . . THPO 391 0 182 55 0.232067510548523 TRUE TRUE +ENSG00000157869.15 . BCM GRCh38.p13 chr4 13381543 13381543 + C C G Missense_Mutation SNP ENST00000330852.10 exon5 c.G443C p.C148S exonic ENSG00000157869.15 . nonsynonymous SNV ENSG00000157869.15:ENST00000330852.10:exon5:c.G443C:p.C148S 4p15.33 C3N-00491 . . . . . . . . . 9.20 D T B B D D N T N 0.877 T T T 0.307 0.690 0.825 0.327 T T D D D D 2.557 22.500 0.934 D D 0.346 4.025 0.501 5.170 1.000 0.706 0.710 0.710 0.564 . 5.870 5.870 7.507 1.026 0.549 1.000 1.000 0.999 768 Small_GTP-binding_protein_domain . . . RAB28 206 0 102 24 0.19047619047619 TRUE TRUE +ENSG00000135222.6 . BCM GRCh38.p13 chr4 69960078 69960078 + G G T Missense_Mutation SNP ENST00000353151.3 exon2 c.C53A p.T18N exonic ENSG00000135222.6 . nonsynonymous SNV ENSG00000135222.6:ENST00000353151.3:exon2:c.C53A:p.T18N 4q13.3 C3N-00491 . . . . . . . . rs1041678553 1.18 D T B B N N L . N 0.238 T T T 0.025 0.146 0.113 0.002 T T T T T . 0.524 6.750 0.953 N N -0.752 0.727 -0.832 0.714 0.000 0.487 0.574 0.574 0.542 . 4.340 1.540 -0.024 0.197 0.676 0.007 0.553 0.501 940 . . . . CSN2 113 1 111 17 0.1328125 TRUE NA +ENSG00000109654.15 . BCM GRCh38.p13 chr4 153295351 153295351 + G G T Missense_Mutation SNP ENST00000437508.6 exon6 c.G744T p.Q248H exonic ENSG00000109654.15 . nonsynonymous SNV ENSG00000109654.15:ENST00000437508.6:exon6:c.G744T:p.Q248H 4q31.3 C3N-00491 . . . . . . . . . 6.20 T T P B D D L T N 0.691 T T T 0.105 0.248 0.375 1.143 T T T T D D 2.486 22.400 0.996 D D 0.153 3.103 0.283 3.617 1.000 0.646 0.610 0.696 0.655 . 5.310 5.310 2.642 1.089 0.676 1.000 1.000 0.999 606 B-box,_C-terminal . . . TRIM2 137 1 47 7 0.12962962962963 TRUE TRUE +ENSG00000184838.15 . BCM GRCh38.p13 chr5 120686690 120686690 + C C A Nonsense_Mutation SNP ENST00000407149.7 exon2 c.C896A p.S299X exonic ENSG00000184838.15 . stopgain ENSG00000184838.15:ENST00000407149.7:exon2:c.C896A:p.S299X 5q23.1 C3N-00491 . . . . . . . . . 5.6 . . . . D D . . . 0.348 . . . . . . . . . D D . . 8.177 41 0.996 D N 1.174 21.601 1.025 20.427 1.000 0.638 0.574 0.537 0.668 . 5.350 5.350 7.568 1.026 0.599 1.000 0.995 0.996 964 . . . ID=COSV65405793;OCCURENCE=1(lung) PRR16 39 0 11 3 0.214285714285714 TRUE NA +ENSG00000086570.12 . BCM GRCh38.p13 chr5 151542977 151542977 + G G A Missense_Mutation SNP ENST00000261800.5 exon9 c.C8150T p.A2717V exonic ENSG00000086570.12 . nonsynonymous SNV ENSG00000086570.12:ENST00000261800.5:exon9:c.C8150T:p.A2717V 5q33.1 C3N-00491 . . . . . . . . . 9.20 T D D D D N L T N 0.574 T T D 0.282 0.644 0.697 0.558 T T D T D T 3.371 24.300 0.998 D D 0.616 6.087 0.588 6.074 0.989 0.554 0.563 0.618 0.564 . 4.160 4.160 6.606 1.176 0.676 1.000 0.999 0.987 891 Cadherin-like . . . FAT2 232 0 138 12 0.08 TRUE TRUE +ENSG00000106263.18 . BCM GRCh38.p13 chr7 2360870 2360871 + TT TT - Frame_Shift_Del DEL ENST00000360876.9 exon2 c.660_661del p.F221Lfs*3 exonic ENSG00000106263.18 . frameshift deletion ENSG00000106263.18:ENST00000360876.9:exon2:c.660_661del:p.F221Lfs*3 7p22.3 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF3B 151 0 76 27 0.262135922330097 TRUE TRUE +ENSG00000170615.15 . BCM GRCh38.p13 chr7 103411527 103411527 + C C A Missense_Mutation SNP ENST00000306312.8 exon6 c.G463T p.D155Y exonic ENSG00000170615.15 . nonsynonymous SNV ENSG00000170615.15:ENST00000306312.8:exon6:c.G463T:p.D155Y 7q22.1 C3N-00491 . . . . . . . . . 15.20 D D D D N D L D D 0.440 D D D 0.633 0.409 0.935 0.675 T D T D D D 3.745 25.600 0.994 D N 0.653 6.504 0.640 6.766 0.876 0.554 0.590 0.618 0.530 . 5.490 5.490 2.511 1.026 0.599 1.000 1.000 0.998 874 SLC26A/SulP_transporter_domain . . . SLC26A5 450 0 290 27 0.0851735015772871 TRUE NA +ENSG00000197140.15 . BCM GRCh38.p13 chr8 39257276 39257276 + G G C Missense_Mutation SNP ENST00000379907.9 exon19 c.G2095C p.A699P exonic ENSG00000197140.15 . nonsynonymous SNV ENSG00000197140.15:ENST00000379907.9:exon19:c.G2095C:p.A699P 8p11.22 C3N-00491 . . . . . . . . . 4.20 D D P P N N L D N 0.369 T T D 0.430 0.581 0.261 0.111 T T T T T T -0.107 0.803 0.928 N N -1.409 0.113 -1.615 0.071 0.064 0.487 0.574 0.574 0.564 . 4.390 -8.300 -2.243 -3.275 -1.546 0.000 0.000 0.000 830 . . . . ADAM32 188 0 102 11 0.0973451327433628 TRUE TRUE +ENSG00000164944.12 . BCM GRCh38.p13 chr8 94529184 94529184 + C C A Missense_Mutation SNP ENST00000297591.10 exon7 c.G766T p.D256Y exonic ENSG00000164944.12 . nonsynonymous SNV ENSG00000164944.12:ENST00000297591.10:exon7:c.G766T:p.D256Y 8q22.1 C3N-00491 . . . . . . . . . 7.20 D D P P N D N T D 0.590 T T T 0.139 0.214 0.068 1.007 T T T T D T 2.994 23.400 0.995 D D 0.345 4.019 0.448 4.719 1.000 0.707 0.725 0.725 0.714 . 5.230 5.230 5.307 0.966 0.454 1.000 1.000 0.997 738 Virilizer,_N-terminal . . . VIRMA 440 2 262 27 0.0934256055363322 TRUE TRUE +ENSG00000188938.17 . BCM GRCh38.p13 chr9 93452578 93452578 + C C T Nonsense_Mutation SNP ENST00000375412.11 exon1 c.G132A p.W44X exonic ENSG00000188938.17 . stopgain ENSG00000188938.17:ENST00000375412.11:exon1:c.G132A:p.W44X 9q22.31 C3N-00491 . . . . . . . . . 1.5 . . . . . A . . . 0.058 . . . . . . . . . T T . . 4.449 32 0.938 N N -0.651 0.896 -1.107 0.369 1.000 0.455 0.219 0.607 0.250 . 2.660 -5.320 -0.067 -0.338 -0.384 0.000 0.000 0.024 952 . . . . FAM120AOS 629 0 224 34 0.131782945736434 TRUE TRUE +ENSG00000130957.5 . BCM GRCh38.p13 chr9 94559018 94559018 + G G A Nonsense_Mutation SNP ENST00000375337.4 exon7 c.C940T p.R314X exonic ENSG00000130957.5 . stopgain ENSG00000130957.5:ENST00000375337.4:exon7:c.C940T:p.R314X 9q22.32 C3N-00491 1.648e-05 9.612e-05 0 0 0 1.499e-05 0 0 rs376093116 6.6 . . . . D D . . . 0.878 . . . . . . . . . D D . . 8.227 41 0.998 D D 0.683 6.893 0.538 5.523 0.068 0.672 0.588 0.702 0.542 . 5.540 3.620 1.933 1.050 0.676 1.000 0.997 0.972 861 . . . ID=COSV100942073;OCCURENCE=2(stomach) FBP2 525 0 220 31 0.123505976095618 TRUE NA +ENSG00000130559.19 . BCM GRCh38.p13 chr9 135850377 135850377 + T T C Missense_Mutation SNP ENST00000389532.9 exon6 c.A893G p.N298S exonic ENSG00000130559.19 . nonsynonymous SNV ENSG00000130559.19:ENST00000389532.9:exon6:c.A893G:p.N298S 9q34.3 C3N-00491 5e-05 0 0 0.0007 0 0 0 0 rs751192974 14.20 D D D D N D M D D 0.517 D D D 0.457 0.348 0.875 0.170 T T T T D D 3.510 24.700 0.999 D N 0.468 4.793 0.375 4.189 1.000 0.732 0.744 0.696 0.735 . 5.570 3.250 5.771 1.138 0.665 1.000 0.572 0.993 862 Calmodulin-regulated_spectrin-associated_protein,_CH_domain;Calponin_homology_domain . . . CAMSAP1 91 0 45 5 0.1 TRUE NA +ENSG00000177106.16 . BCM GRCh38.p13 chr11 726441 726441 + G G T Missense_Mutation SNP ENST00000318562.13 exon19 c.G1891T p.D631Y exonic ENSG00000177106.16 . nonsynonymous SNV ENSG00000177106.16:ENST00000318562.13:exon19:c.G1891T:p.D631Y 11p15.5 C3N-00491 . . . . . . . . . 4.20 D D P B U N L T D 0.307 T T D 0.067 0.300 0.173 0.186 T T T T T T 1.663 16.780 0.975 N N -0.729 0.765 -0.856 0.680 1.000 0.789 0.768 0.768 0.700 . 3.400 -1.870 1.220 0.029 -0.285 0.009 0.219 0.127 912 . . . . EPS8L2 247 1 86 20 0.188679245283019 TRUE TRUE +ENSG00000134824.14 . BCM GRCh38.p13 chr11 61863045 61863045 + C C T Missense_Mutation SNP ENST00000278840.9 exon8 c.C956T p.A319V exonic ENSG00000134824.14 . nonsynonymous SNV ENSG00000134824.14:ENST00000278840.9:exon8:c.C956T:p.A319V 11q12.2 C3N-00491 . . . . . . . . . 1.20 T T B B N N L T N 0.374 T T T 0.082 0.757 0.605 1.094 T T T T D T 1.818 17.870 0.976 N N -0.649 0.900 -0.564 1.101 1.000 0.672 0.702 0.702 0.711 . 5.110 4.190 4.059 1.026 0.594 0.120 0.992 0.988 779 Fatty_acid_desaturase_domain . . . FADS2 414 0 167 29 0.147959183673469 TRUE TRUE +ENSG00000089225.20 . BCM GRCh38.p13 chr12 114401863 114401863 + C C A Nonsense_Mutation SNP ENST00000405440.7 exon3 c.G205T p.E69X exonic ENSG00000089225.20 . stopgain ENSG00000089225.20:ENST00000405440.7:exon3:c.G205T:p.E69X 12q24.21 C3N-00491 . . . . . . . . rs104894377 5.6 . . . . D A . . . 0.836 . . . . . . . . . D D . . 7.960 40 0.998 D N 1.003 14.026 0.857 12.046 1.000 0.598 0.563 0.596 0.530 . 5.070 5.070 6.016 1.026 0.599 1.000 1.000 0.998 946 Transcription_factor,_T-box,_conserved_site . . . TBX5 693 1 387 49 0.112385321100917 TRUE NA +ENSG00000090975.12 . BCM GRCh38.p13 chr12 122987420 122987420 + T T G Missense_Mutation SNP ENST00000320201.8 exon22 c.A3274C p.T1092P exonic ENSG00000090975.12 . nonsynonymous SNV ENSG00000090975.12:ENST00000320201.8:exon22:c.A3274C:p.T1092P 12q24.31 C3N-00491 . . . . . . . . . 15.20 D T D D D D M T D 0.852 T T D 0.730 0.507 0.629 2.400 T D D D D D 4.139 28.100 0.997 D D 0.821 9.203 0.757 8.959 1.000 0.707 0.514 0.645 0.714 . 5.040 5.040 8.011 1.138 0.665 1.000 0.985 0.986 241 . . . . PITPNM2 235 0 91 11 0.107843137254902 TRUE TRUE +ENSG00000179933.6 . BCM GRCh38.p13 chr14 23097806 23097806 + T T A Missense_Mutation SNP ENST00000319074.6 exon2 c.T148A p.S50T exonic ENSG00000179933.6 . nonsynonymous SNV ENSG00000179933.6:ENST00000319074.6:exon2:c.T148A:p.S50T 14q11.2 C3N-00491 . . . . . . . . . 6.18 T D D P D D . T N 0.138 T T T 0.126 0.240 0.686 0.285 . T T T D T 3.154 23.800 0.986 D N 0.547 5.419 0.581 5.996 1.000 0.722 0.725 0.702 0.735 . 5.990 5.990 3.266 1.138 0.665 1.000 1.000 0.995 889 . . . . C14orf119 666 0 239 36 0.130909090909091 TRUE TRUE +ENSG00000103404.14 . BCM GRCh38.p13 chr16 23069110 23069110 + C C G Missense_Mutation SNP ENST00000219689.11 exon16 c.G2995C p.D999H exonic ENSG00000103404.14 . nonsynonymous SNV ENSG00000103404.14:ENST00000219689.11:exon16:c.G2995C:p.D999H 16p12.2 C3N-00491 . . . . . . . . . 3.20 T T B B N D L T N 0.118 T T T 0.145 0.170 0.636 0.277 T T T T T D 2.218 21.000 0.931 D N 0.231 3.444 0.377 4.198 1.000 0.563 0.546 0.609 0.636 . 6.060 6.060 4.215 1.026 0.599 1.000 1.000 0.998 437 . . . . USP31 262 0 112 17 0.131782945736434 TRUE TRUE +ENSG00000204880.8 . BCM GRCh38.p13 chr17 41097600 41097600 + G G A Missense_Mutation SNP ENST00000333822.5 exon1 c.C485T p.T162I exonic ENSG00000204880.8 . nonsynonymous SNV ENSG00000204880.8:ENST00000333822.5:exon1:c.C485T:p.T162I 17q21.2 C3N-00491 . . . . . . . . . 5.20 D D B B U N H T D 0.313 T T T 0.136 0.610 0.048 0.097 T T T T D T 2.008 19.310 0.994 N N -0.112 2.137 -0.128 1.970 0.000 0.487 0.590 0.547 0.564 . 3.730 2.730 0.408 1.161 0.640 0.000 0.988 0.578 312 . . . . KRTAP4-8 293 0 114 37 0.245033112582781 NA TRUE +ENSG00000187775.17 . BCM GRCh38.p13 chr17 78567067 78567067 + C C T Missense_Mutation SNP ENST00000389840.7 exon10 c.G1384A p.D462N exonic ENSG00000187775.17 . nonsynonymous SNV ENSG00000187775.17:ENST00000389840.7:exon10:c.G1384A:p.D462N 17q25.3 C3N-00491 . . . . . . . . . 1.17 T . . . N N L T N 0.190 T T T 0.081 . 0.195 . T T T T T T 1.947 18.850 0.973 D N -0.364 1.463 -0.299 1.567 0.964 0.497 0.563 0.590 0.542 . 4.920 4.920 3.112 1.026 0.599 0.992 0.118 0.055 887 Dynein_heavy_chain,_domain-1 . . . DNAH17 210 0 81 11 0.119565217391304 TRUE TRUE +ENSG00000172000.7 . BCM GRCh38.p13 chr19 2878150 2878150 + G G T Missense_Mutation SNP ENST00000307635.3 exon4 c.G1192T p.V398L exonic ENSG00000172000.7 . nonsynonymous SNV ENSG00000172000.7:ENST00000307635.3:exon4:c.G1192T:p.V398L 19p13.3 C3N-00491 . . . . . . . . . 2.19 D D B B . N N T N 0.050 T T T 0.007 0.367 0.092 0.045 T T T T T T 0.648 7.969 0.853 N N -1.456 0.095 -1.539 0.094 0.000 0.554 0.588 0.547 0.564 . 2.130 -2.080 -0.913 -0.907 -0.312 0.000 0.000 0.004 994 . . . . ZNF556 591 0 216 36 0.142857142857143 TRUE TRUE +ENSG00000152467.10 . BCM GRCh38.p13 chr19 58052538 58052538 + G G A Missense_Mutation SNP ENST00000282326.6 exon5 c.G514A p.E172K exonic ENSG00000152467.10 . nonsynonymous SNV ENSG00000152467.10:ENST00000282326.6:exon5:c.G514A:p.E172K 19q13.43 C3N-00491 0.0006 0 0.0059 0 0 1.522e-05 0 6.077e-05 rs577583865 0.19 T T P B . N N T N 0.186 T T T 0.023 0.345 0.322 0.188 T T T T T T 0.711 8.553 0.883 N N -1.276 0.178 -1.418 0.142 0.000 0.487 0.574 0.578 0.613 . 1.740 -3.490 -0.147 -1.090 0.618 0.001 0.000 0.018 970 . . . . ZSCAN1 325 0 140 31 0.181286549707602 TRUE NA +ENSG00000149488.13 . BCM GRCh38.p13 chr20 2624365 2624365 + G G A Missense_Mutation SNP ENST00000358864.1 exon17 c.G2275A p.G759S exonic ENSG00000149488.13 . nonsynonymous SNV ENSG00000149488.13:ENST00000358864.1:exon17:c.G2275A:p.G759S 20p13 C3N-00491 . . . . . . . . . 14.20 T T D D D D M T D 0.957 T T D 0.497 0.557 0.805 0.519 D T D D D D 3.512 24.700 0.998 D D 0.799 8.767 0.781 9.572 1.000 0.497 0.590 0.547 0.530 . 4.990 4.990 9.873 1.176 0.676 1.000 1.000 0.999 744 . . . . TMC2 112 0 83 12 0.126315789473684 TRUE TRUE +ENSG00000173276.14 . BCM GRCh38.p13 chr21 41993806 41993806 + C C T Missense_Mutation SNP ENST00000310826.10 exon3 c.G290A p.S97N exonic ENSG00000173276.14 . nonsynonymous SNV ENSG00000173276.14:ENST00000310826.10:exon3:c.G290A:p.S97N 21q22.3 C3N-00491 . . . . . . . . . 3.20 T T B B N D L T N 0.169 T T T 0.073 0.474 0.379 0.176 T T T T D T 2.220 21.000 0.984 D N -0.190 1.906 0.045 2.520 1.000 0.566 0.616 0.609 0.674 . 5.500 4.610 4.577 1.026 0.599 1.000 1.000 0.999 986 BTB/POZ_domain . . . ZBTB21 275 0 132 24 0.153846153846154 TRUE TRUE +ENSG00000100139.13 . BCM GRCh38.p13 chr22 37922373 37922373 + G G C Missense_Mutation SNP ENST00000215957.10 exon6 c.G971C p.S324T exonic ENSG00000100139.13 . nonsynonymous SNV ENSG00000100139.13:ENST00000215957.10:exon6:c.G971C:p.S324T 22q13.1 C3N-00491 . . . . . . . . . 2.20 T T B B N N L T N 0.127 T T D 0.077 0.102 0.635 0.310 T T T T T T 2.132 20.400 0.894 D N -0.134 2.069 0.002 2.366 0.974 0.732 0.744 0.636 0.714 . 4.940 3.920 2.359 1.157 0.652 0.995 0.971 0.978 862 . . . . MICALL1 128 0 55 15 0.214285714285714 TRUE TRUE +ENSG00000100241.21 . BCM GRCh38.p13 chr22 50460545 50460545 + A A - Frame_Shift_Del DEL ENST00000348911.10 exon24 c.3138delT p.P1047Lfs*59 exonic ENSG00000100241.21 . frameshift deletion ENSG00000100241.21:ENST00000348911.10:exon24:c.3138delT:p.P1047Lfs*59 22q13.33 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SBF1 143 0 57 22 0.278481012658228 TRUE TRUE +ENSG00000047644.19 . BCM GRCh38.p13 chrX 10138873 10138873 + C C - Frame_Shift_Del DEL ENST00000380861.9 exon21 c.3021delC p.L1008Sfs*39 exonic ENSG00000047644.19 . frameshift deletion ENSG00000047644.19:ENST00000380861.9:exon21:c.3021delC:p.L1008Sfs*39 Xp22.2 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WWC3 279 1 88 27 0.234782608695652 TRUE TRUE +ENSG00000186787.8 . BCM GRCh38.p13 chrX 57120291 57120291 + C C A Missense_Mutation SNP ENST00000333933.3 exon2 c.G339T p.R113S exonic ENSG00000186787.8 . nonsynonymous SNV ENSG00000186787.8:ENST00000333933.3:exon2:c.G339T:p.R113S Xp11.21 C3N-00491 . . . . . . . . . 8.19 D D B B D D L T D 0.349 T T T 0.127 0.356 0.225 2.128 T T T T D D 2.486 22.400 0.985 D . . . . . 0.998 . . . . . 2.370 2.370 2.753 0.681 0.450 1.000 1.000 0.995 341 . . . . SPIN2B 107 0 45 14 0.23728813559322 NA TRUE +ENSG00000064692.19 . BCM GRCh38.p13 chr5 122449938 122449938 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000064692.19 ENST00000261368.13:exon9:c.1685+1G>T . . 5q23.2 C3N-00491 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.708 34 0.996 D . 1.218 25.451 1.084 25.357 1.000 0.089 0.097 0.060 0.099 0.983 5.790 5.790 8.013 1.176 0.676 1.000 0.997 0.974 798 . . . . SNCAIP 281 1 168 12 0.0666666666666667 TRUE TRUE +ENSG00000101311.15 . BCM GRCh38.p13 chr20 6116045 6116045 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000101311.15 ENST00000217289.8:exon3:c.152-1G>T . . 20p12.3 C3N-00491 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.890 35 0.995 D . 1.199 23.644 1.054 22.594 1.000 0.062 0.063 0.128 0.059 0.985 5.530 5.530 7.840 1.013 0.599 1.000 0.952 0.939 934 . . . . FERMT1 323 0 143 33 0.1875 TRUE TRUE +ENSG00000162408.11 . BCM GRCh38.p13 chr1 6532510 6532510 + C C T Silent SNP ENST00000377705.6 exon8 c.G1488A p.L496L exonic ENSG00000162408.11 . synonymous SNV ENSG00000162408.11:ENST00000377705.6:exon8:c.G1488A:p.L496L 1p36.31 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOL9 227 0 94 16 0.145454545454545 TRUE NA +ENSG00000048707.15 . BCM GRCh38.p13 chr1 12314220 12314220 + T T G Silent SNP ENST00000620676.6 exon30 c.T7041G p.A2347A exonic ENSG00000048707.15 . synonymous SNV ENSG00000048707.15:ENST00000620676.6:exon30:c.T7041G:p.A2347A 1p36.22 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS13D 504 0 251 29 0.103571428571429 TRUE TRUE +ENSG00000153165.19 . BCM GRCh38.p13 chr2 106423236 106423236 + A A T Silent SNP ENST00000409886.4 exon20 c.T4731A p.P1577P exonic ENSG00000153165.19 . synonymous SNV ENSG00000153165.19:ENST00000409886.4:exon20:c.T4731A:p.P1577P 2q12.2 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGPD3 503 1 332 23 0.0647887323943662 NA TRUE +ENSG00000115020.17 . BCM GRCh38.p13 chr2 208353921 208353921 + T T A Silent SNP ENST00000264380.9 exon40 c.T5868A p.L1956L exonic ENSG00000115020.17 . synonymous SNV ENSG00000115020.17:ENST00000264380.9:exon40:c.T5868A:p.L1956L 2q34 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIKFYVE 275 0 147 29 0.164772727272727 TRUE TRUE +ENSG00000157119.12 . BCM GRCh38.p13 chr3 42688667 42688667 + G G A Silent SNP ENST00000287777.5 exon3 c.G1371A p.V457V exonic ENSG00000157119.12 . synonymous SNV ENSG00000157119.12:ENST00000287777.5:exon3:c.G1371A:p.V457V 3p22.1 C3N-00491 0.0001 0.0016 0 0 0 0 0.0011 0 rs142716131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55137386;OCCURENCE=1(endometrium) KLHL40 438 0 169 24 0.124352331606218 TRUE TRUE +ENSG00000137460.8 . BCM GRCh38.p13 chr4 152976570 152976570 + G G A Silent SNP ENST00000511601.5 exon12 c.G3279A p.R1093R exonic ENSG00000137460.8 . synonymous SNV ENSG00000137460.8:ENST00000511601.5:exon12:c.G3279A:p.R1093R 4q31.3 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FHDC1 144 0 54 10 0.15625 TRUE TRUE +ENSG00000055147.19 . BCM GRCh38.p13 chr5 154034948 154034948 + T T A Silent SNP ENST00000351797.9 exon2 c.A6T p.S2S exonic ENSG00000055147.19 . synonymous SNV ENSG00000055147.19:ENST00000351797.9:exon2:c.A6T:p.S2S 5q33.2 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM114A2 252 0 113 19 0.143939393939394 TRUE TRUE +ENSG00000184347.15 . BCM GRCh38.p13 chr5 168669811 168669811 + G G A Silent SNP ENST00000519560.6 exon35 c.C4308T p.P1436P exonic ENSG00000184347.15 . synonymous SNV ENSG00000184347.15:ENST00000519560.6:exon35:c.C4308T:p.P1436P 5q34 C3N-00491 4.14e-05 9.641e-05 8.684e-05 0 0 4.506e-05 0 0 rs199567695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLIT3 470 0 249 18 0.0674157303370786 TRUE NA +ENSG00000136274.9 . BCM GRCh38.p13 chr7 45080945 45080945 + G G T Silent SNP ENST00000490531.3 exon6 c.C4482A p.V1494V exonic ENSG00000136274.9 . synonymous SNV ENSG00000136274.9:ENST00000490531.3:exon6:c.C4482A:p.V1494V 7p13 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NACAD 247 0 103 12 0.104347826086957 TRUE TRUE +ENSG00000006377.11 . BCM GRCh38.p13 chr7 97007666 97007666 + C C T Silent SNP ENST00000518156.3 exon2 c.C465T p.N155N exonic ENSG00000006377.11 . synonymous SNV ENSG00000006377.11:ENST00000518156.3:exon2:c.C465T:p.N155N 7q21.3 C3N-00491 3.501e-05 0 0.0001 0 0 4.179e-05 0 0 rs754678377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99142483;OCCURENCE=1(stomach) DLX6 460 0 263 35 0.11744966442953 TRUE NA +ENSG00000106244.13 . BCM GRCh38.p13 chr7 99404895 99404895 + G G A Silent SNP ENST00000350498.8 exon2 c.C72T p.D24D exonic ENSG00000106244.13 . synonymous SNV ENSG00000106244.13:ENST00000350498.8:exon2:c.C72T:p.D24D 7q22.1 C3N-00491 3.304e-05 0 0 0 0 4.511e-05 0 6.071e-05 rs775778971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56117339;OCCURENCE=1(stomach) PDAP1 174 0 101 6 0.0560747663551402 TRUE TRUE +ENSG00000146802.13 . BCM GRCh38.p13 chr7 112767590 112767590 + T T C Silent SNP ENST00000312814.11 exon5 c.A1701G p.Q567Q exonic ENSG00000146802.13 . synonymous SNV ENSG00000146802.13:ENST00000312814.11:exon5:c.A1701G:p.Q567Q 7q31.1 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM168 341 0 225 34 0.131274131274131 TRUE TRUE +ENSG00000174226.9 . BCM GRCh38.p13 chr8 100649491 100649491 + C C T Silent SNP ENST00000311812.7 exon1 c.G24A p.P8P exonic ENSG00000174226.9 . synonymous SNV ENSG00000174226.9:ENST00000311812.7:exon1:c.G24A:p.P8P 8q22.3 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX31 265 0 131 9 0.0642857142857143 TRUE NA +ENSG00000122705.17 . BCM GRCh38.p13 chr9 36191185 36191185 + T T A Silent SNP ENST00000433436.6 exon1 c.T129A p.I43I exonic ENSG00000122705.17 . synonymous SNV ENSG00000122705.17:ENST00000433436.6:exon1:c.T129A:p.I43I 9p13.3 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLTA 302 0 113 21 0.156716417910448 TRUE TRUE +ENSG00000077235.18 . BCM GRCh38.p13 chr16 27484240 27484240 + G G C Silent SNP ENST00000356183.9 exon25 c.C3972G p.V1324V exonic ENSG00000077235.18 . synonymous SNV ENSG00000077235.18:ENST00000356183.9:exon25:c.C3972G:p.V1324V 16p12.1 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTF3C1 206 0 90 14 0.134615384615385 TRUE TRUE +ENSG00000269058.6 . BCM GRCh38.p13 chr19 16479206 16479206 + C C T Silent SNP ENST00000269881.8 exon9 c.G1080A p.E360E exonic ENSG00000269058.6 . synonymous SNV ENSG00000269058.6:ENST00000269881.8:exon9:c.G1080A:p.E360E 19p13.11 C3N-00491 8.237e-06 0 0 0 0 1.498e-05 0 0 rs752458256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CALR3 503 0 233 33 0.12406015037594 TRUE NA +ENSG00000147036.12 . BCM GRCh38.p13 chrX 37655708 37655708 + C C A Silent SNP ENST00000378619.4 exon2 c.C594A p.I198I exonic ENSG00000147036.12 . synonymous SNV ENSG00000147036.12:ENST00000378619.4:exon2:c.C594A:p.I198I Xp21.1 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LANCL3 111 0 33 15 0.3125 TRUE TRUE +ENSG00000143183.16 . BCM GRCh38.p13 chr1 165725828 165725828 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000143183.16 ENST00000612311.4:c.*2195G>C . . 1q24.1 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMCO1 121 0 71 9 0.1125 TRUE NA +ENSG00000212643.3 . BCM GRCh38.p13 chr5 112892170 112892170 + T T - RNA SNP NA NA NA NA ncRNA_exonic ENSG00000212643.3 . . . 5q22.2 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZRSR2P1 542 1 272 29 0.0963455149501661 NA TRUE +ENSG00000158856.18 . BCM GRCh38.p13 chr8 22081814 22081814 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000158856.18 ENST00000358242.5:c.*351G>A . . 8p21.3 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMTN 127 0 44 6 0.12 TRUE NA +ENSG00000151150.22 . BCM GRCh38.p13 chr10 60200248 60200248 + T T C Intron SNP NA NA NA NA intronic ENSG00000151150.22 . . . 10q21.2 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANK3 518 0 215 31 0.126016260162602 TRUE NA +ENSG00000156113.23 . BCM GRCh38.p13 chr10 76995534 76995534 + C C A Intron SNP NA NA NA NA intronic ENSG00000156113.23 . . . 10q22.3 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNMA1 240 0 84 19 0.184466019417476 TRUE TRUE +ENSG00000261487.1 . BCM GRCh38.p13 chr16 30954086 30954086 + C C A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000261487.1 . . . 16p11.2 C3N-00491 . . . . . . . . . 1.11 D . . . . N . T N 0.185 . . T . . 0.387 . . T T T . T 0.009 1.395 0.644 N N . . . . 1.000 0.742 0.636 0.775 0.696 . 4.200 1.180 -0.414 -0.950 -0.805 0.000 0.000 0.020 38 . . . . AC135048.1 361 0 201 27 0.118421052631579 TRUE TRUE +ENSG00000186566.13 . BCM GRCh38.p13 chr17 44396887 44396887 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000186566.13 ENST00000591680.6:c.*681T>A . . 17q21.31 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPATCH8 660 0 383 65 0.145089285714286 TRUE NA +ENSG00000100994.12 . BCM GRCh38.p13 chr20 25289891 25289891 + A A T Intron SNP NA NA NA NA intronic ENSG00000100994.12 . . . 20p11.21 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PYGB 226 0 80 35 0.304347826086957 TRUE TRUE +ENSG00000124164.16 . BCM GRCh38.p13 chr20 58450708 58450708 + G G C 3'UTR SNP NA NA NA NA UTR3 ENSG00000124164.16 ENST00000475243.6:c.*6473G>C . . 20q13.32 C3N-00491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAPB 147 0 81 14 0.147368421052632 TRUE NA +ENSG00000011009.11 . BCM GRCh38.p13 chr1 23794282 23794282 + T T - Frame_Shift_Del DEL ENST00000374514.8 exon8 c.428delT p.V143Gfs*3 exonic ENSG00000011009.11 . frameshift deletion ENSG00000011009.11:ENST00000374514.8:exon8:c.428delT:p.V143Gfs*3 1p36.11 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LYPLA2 220 0 104 48 0.315789473684211 TRUE TRUE +ENSG00000001460.18 . BCM GRCh38.p13 chr1 24373741 24373741 + T T - Frame_Shift_Del DEL ENST00000337248.9 exon6 c.532delA p.R178Efs*23 exonic ENSG00000001460.18 . frameshift deletion ENSG00000001460.18:ENST00000337248.9:exon6:c.532delA:p.R178Efs*23 1p36.11 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STPG1 166 0 97 24 0.198347107438017 TRUE TRUE +ENSG00000177301.15 . BCM GRCh38.p13 chr1 110604466 110604466 + A A - Nonsense_Mutation SNP ENST00000316361.10 exon3 c.317delT p.L106* exonic ENSG00000177301.15 . stopgain ENSG00000177301.15:ENST00000316361.10:exon3:c.317delT:p.L106* 1p13.3 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNA2 298 0 205 118 0.365325077399381 TRUE TRUE +ENSG00000143379.12 . BCM GRCh38.p13 chr1 150927956 150927956 + T T C Missense_Mutation SNP ENST00000271640.9 exon2 c.T242C p.L81P exonic ENSG00000143379.12 . nonsynonymous SNV ENSG00000143379.12:ENST00000271640.9:exon2:c.T242C:p.L81P 1q21.3 C3N-00494 . . . . . . . . . 17.20 D D D D D D M D D 0.962 D D D 0.829 0.622 0.968 1.822 T T D D D D 4.239 29.000 0.999 N D 0.553 5.472 0.564 5.806 1.000 0.722 0.699 0.725 0.714 . 5.450 5.450 5.216 1.138 0.665 1.000 0.988 0.962 65 . . . . SETDB1 127 0 77 95 0.552325581395349 TRUE TRUE +ENSG00000143409.15 . BCM GRCh38.p13 chr1 151001250 151001250 + C C A Missense_Mutation SNP ENST00000361936.9 exon5 c.G576T p.Q192H exonic ENSG00000143409.15 . nonsynonymous SNV ENSG00000143409.15:ENST00000361936.9:exon5:c.G576T:p.Q192H 1q21.3 C3N-00494 . . . . . . . . . 11.19 D T D D D D . T D 0.815 T T D 0.326 0.552 0.712 0.847 T T T T D D 5.252 33 0.994 D D 0.314 3.853 0.288 3.646 1.000 0.651 0.634 0.651 0.636 . 5.430 4.510 7.632 1.026 0.599 1.000 0.934 0.850 166 MINDY_deubiquitinase_domain . . . MINDY1 123 0 155 20 0.114285714285714 TRUE TRUE +ENSG00000076356.7 . BCM GRCh38.p13 chr1 208028098 208028098 + C C T Missense_Mutation SNP ENST00000367033.4 exon31 c.G5500A p.A1834T exonic ENSG00000076356.7 . nonsynonymous SNV ENSG00000076356.7:ENST00000367033.4:exon31:c.G5500A:p.A1834T 1q32.2 C3N-00494 8.254e-06 0 0 0 0 0 0 6.107e-05 rs750685623 9.20 D T P B D D L T D 0.808 T T T 0.271 0.611 0.374 1.543 D T T T D D 3.308 24.100 0.999 D D 0.614 6.068 0.666 7.169 1.000 0.722 0.610 0.602 0.735 . 5.500 5.500 7.624 1.026 0.599 1.000 0.995 0.997 894 Plexin,_cytoplasmic_RasGAP_domain . . ID=COSV100885154;OCCURENCE=1(endometrium) PLXNA2 103 0 159 9 0.0535714285714286 TRUE NA +ENSG00000077522.13 . BCM GRCh38.p13 chr1 236720161 236720161 + C C T Missense_Mutation SNP ENST00000366578.6 exon4 c.C418T p.R140C exonic ENSG00000077522.13 . nonsynonymous SNV ENSG00000077522.13:ENST00000366578.6:exon4:c.C418T:p.R140C 1q43 C3N-00494 . . . . . . . . . 16.20 D D D D N D H T D 0.831 T T D 0.700 0.749 0.795 2.261 D D D D D D 4.519 32 0.999 D D 0.667 6.688 0.625 6.551 1.000 0.554 0.574 0.602 0.621 . 5.820 4.910 7.798 1.022 -0.206 1.000 0.999 0.993 436 Calponin_homology_domain . . ID=COSV63973975;OCCURENCE=1(large_intestine) ACTN2 169 0 229 125 0.353107344632768 TRUE TRUE +ENSG00000241128.2 . BCM GRCh38.p13 chr1 247723614 247723614 + T T A Missense_Mutation SNP ENST00000366485.1 exon1 c.A430T p.S144C exonic ENSG00000241128.2 . nonsynonymous SNV ENSG00000241128.2:ENST00000366485.1:exon1:c.A430T:p.S144C 1q44 C3N-00494 . . . . . . . . . 2.15 D D . . N N . T N 0.175 T T T 0.025 0.442 0.145 . . T T T T T 1.356 14.780 0.876 N . -0.493 1.189 -0.657 0.961 0.000 0.487 0.574 0.574 0.564 . 3.180 -0.348 -1.128 0.707 0.631 0.000 0.047 0.926 958 GPCR,_rhodopsin-like,_7TM . . . OR14A2 80 0 82 75 0.477707006369427 TRUE TRUE +ENSG00000119737.6 . BCM GRCh38.p13 chr2 53854487 53854487 + G G C Missense_Mutation SNP ENST00000394705.3 exon2 c.C270G p.D90E exonic ENSG00000119737.6 . nonsynonymous SNV ENSG00000119737.6:ENST00000394705.3:exon2:c.C270G:p.D90E 2p16.2 C3N-00494 . . . . . . . . . 15.20 D D D D D D L D D 0.964 D D D 0.906 0.672 0.851 0.521 T T D D D T 3.076 23.600 0.996 D N 0.461 4.744 0.431 4.588 0.523 0.566 0.616 0.659 0.674 . 5.650 3.840 3.182 0.245 0.676 1.000 0.998 0.999 779 GPCR,_rhodopsin-like,_7TM . . . GPR75 194 0 204 33 0.139240506329114 TRUE TRUE +ENSG00000115464.15 . BCM GRCh38.p13 chr2 61378384 61378384 + G G A Missense_Mutation SNP ENST00000398571.7 exon8 c.C1055T p.S352L exonic ENSG00000115464.15 . nonsynonymous SNV ENSG00000115464.15:ENST00000398571.7:exon8:c.C1055T:p.S352L 2p15 C3N-00494 . . . . . . . . . 13.20 D D D P D D L T D 0.732 T T D 0.393 0.394 0.365 . D T D T D D 4.404 31 0.998 D D 0.714 7.315 0.761 9.068 1.000 0.732 0.744 0.744 0.728 . 5.520 5.520 9.724 1.155 0.618 1.000 1.000 0.996 179 . . . . USP34 68 0 136 14 0.0933333333333333 TRUE TRUE +ENSG00000187833.7 . BCM GRCh38.p13 chr2 73815568 73815568 + G G A Missense_Mutation SNP ENST00000409561.1 exon3 c.G1345A p.E449K exonic ENSG00000187833.7 . nonsynonymous SNV ENSG00000187833.7:ENST00000409561.1:exon3:c.G1345A:p.E449K 2p13.1 C3N-00494 . . . . . . . . . 0.18 T T B B N N L . N 0.183 T T T 0.020 0.404 0.048 0.102 . T T T T T 0.378 5.181 0.791 N N -0.979 0.427 -1.044 0.436 0.000 0.516 0.610 0.590 0.530 . 5.480 0.403 0.464 -0.019 -0.244 0.002 0.000 0.003 403 . . . . C2orf78 111 0 171 19 0.1 TRUE TRUE +ENSG00000115353.11 . BCM GRCh38.p13 chr2 75049476 75049476 + T T C Missense_Mutation SNP ENST00000305249.10 exon5 c.A1180G p.T394A exonic ENSG00000115353.11 . nonsynonymous SNV ENSG00000115353.11:ENST00000305249.10:exon5:c.A1180G:p.T394A 2p12 C3N-00494 . . . . . . . . . 6.20 T T B B D D L T N 0.126 T T D 0.251 0.052 0.890 0.254 T T T T D T 1.887 18.390 0.947 D D -0.246 1.751 -0.132 1.959 1.000 0.554 0.588 0.547 0.613 . 4.510 4.510 4.561 1.138 0.665 1.000 0.980 0.286 798 . . . . TACR1 124 0 64 76 0.542857142857143 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178733344 178733344 + G G A Nonsense_Mutation SNP ENST00000591111.5 exon52 c.C14998T p.Q5000X exonic ENSG00000155657.27 . stopgain ENSG00000155657.27:ENST00000591111.5:exon52:c.C14998T:p.Q5000X 2q31.2 C3N-00494 . . . . . . . . . 4.5 . . . . . D . . . 0.951 . . . . . . . . . D D . . 8.248 42 0.993 D N 1.114 18.120 0.976 17.467 1.000 0.487 0.574 0.574 0.564 . 5.860 5.860 3.884 1.176 0.676 1.000 0.999 0.995 341 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 71 0 112 43 0.27741935483871 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178773244 178773244 + G G C Missense_Mutation SNP ENST00000591111.5 exon33 c.C7720G p.P2574A exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon33:c.C7720G:p.P2574A 2q31.2 C3N-00494 . . . . . . . . . 4.17 T T B B . D . T D 0.323 T T D 0.108 0.377 0.198 0.081 T . T T T T 1.666 16.800 0.672 D N -0.403 1.377 -0.255 1.660 0.792 0.516 0.602 0.574 0.586 . 5.680 4.800 0.925 0.230 -0.106 0.995 0.938 0.578 343 Immunoglobulin_I-set;Immunoglobulin_subtype . . . TTN 158 0 251 24 0.0872727272727273 TRUE TRUE +ENSG00000188738.15 . BCM GRCh38.p13 chr2 185803714 185803714 + C C T Missense_Mutation SNP ENST00000424728.6 exon17 c.C14408T p.S4803F exonic ENSG00000188738.15 . nonsynonymous SNV ENSG00000188738.15:ENST00000424728.6:exon17:c.C14408T:p.S4803F 2q32.1 C3N-00494 . . . . . . . . . 8.16 D D . . . D M T D 0.655 T T T 0.171 . 0.624 . T T D T D T 2.560 22.600 0.991 D . 0.266 3.611 0.355 4.051 0.030 0.487 0.574 0.574 0.564 . 5.360 5.360 2.144 0.099 0.549 0.614 0.791 0.687 735 Fibrous_sheath-interacting_protein_2,_C-terminal . . . FSIP2 81 0 71 69 0.492857142857143 TRUE TRUE +ENSG00000135917.15 . BCM GRCh38.p13 chr2 227702299 227702299 + G G A Missense_Mutation SNP ENST00000644224.2 exon2 c.C20T p.S7L exonic ENSG00000135917.15 . nonsynonymous SNV ENSG00000135917.15:ENST00000644224.2:exon2:c.C20T:p.S7L 2q36.3 C3N-00494 . . . . . . . . . 2.20 T T B B N N L D N 0.146 T T D 0.135 0.310 0.764 0.052 T T T T T T 1.038 12.100 0.983 N N -0.825 0.619 -0.737 0.847 0.070 0.615 0.590 0.659 0.564 . 5.670 2.880 0.430 0.222 0.676 0.000 0.001 0.049 538 . . . . SLC19A3 128 0 148 78 0.345132743362832 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146636 10146636 + G G C Missense_Mutation SNP ENST00000256474.3 exon2 c.G463C p.V155L exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.G463C:p.V155L 3p25.3 C3N-00494 . . . . . . . . . 17.19 . D D D D D M D N 0.616 D D D 0.844 0.957 1.000 0.326 T D D D D D 6.317 35 0.992 D D 0.591 5.832 0.581 5.994 1.000 0.732 0.686 0.744 0.735 . 4.660 4.660 7.677 1.176 0.676 1.000 0.998 0.982 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,_alpha_domain . . ID=COSV56545833;OCCURENCE=4(kidney) VHL 310 0 170 107 0.386281588447653 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52617398 52617398 + A A - Frame_Shift_Del DEL ENST00000296302.11 exon14 c.1682delT p.I561Tfs*8 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon14:c.1682delT:p.I561Tfs*8 3p21.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 205 0 101 107 0.514423076923077 TRUE TRUE +ENSG00000065534.18 . BCM GRCh38.p13 chr3 123647349 123647349 + A A C Nonsense_Mutation SNP ENST00000360304.7 exon26 c.T4494G p.Y1498X exonic ENSG00000065534.18 . stopgain ENSG00000065534.18:ENST00000360304.7:exon26:c.T4494G:p.Y1498X 3q21.1 C3N-00494 . . . . . . . . . 4.5 . . . . . A . . . 0.902 . . . . . . . . . D D . . 6.916 36 0.995 D N 0.378 4.208 0.170 3.038 1.000 0.000 0.574 0.710 0.479 . 5.380 -0.973 0.810 1.308 0.750 0.998 0.998 0.997 551 Protein_kinase_domain;Myosin_Light_Chain_Kinase_1,_Kinase_domain . . . MYLK 334 0 305 148 0.326710816777042 TRUE TRUE +ENSG00000114124.2 . BCM GRCh38.p13 chr3 141778659 141778660 + CC CC - Frame_Shift_Del DEL ENST00000264952.2 exon1 c.375_376del p.L126Qfs*14 exonic ENSG00000114124.2 . frameshift deletion ENSG00000114124.2:ENST00000264952.2:exon1:c.375_376del:p.L126Qfs*14 3q23 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRK7 109 0 79 14 0.150537634408602 TRUE TRUE +ENSG00000152580.8 . BCM GRCh38.p13 chr3 151443470 151443470 + C C T Missense_Mutation SNP ENST00000282466.3 exon5 c.G5477A p.G1826D exonic ENSG00000152580.8 . nonsynonymous SNV ENSG00000152580.8:ENST00000282466.3:exon5:c.G5477A:p.G1826D 3q25.1 C3N-00494 0.0004 9.628e-05 8.646e-05 0.0001 0.0009 0.0002 0 0.0018 rs147801336 3.20 D D B B N N L T N 0.068 T T T 0.150 . 0.613 0.030 T T T T T T 1.759 17.440 0.941 N D -0.566 1.050 -0.494 1.211 0.998 0.554 0.574 0.602 0.568 . 5.260 2.410 4.014 0.166 -0.326 1.000 0.349 0.950 813 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IGSF10 178 0 149 62 0.293838862559242 TRUE NA +ENSG00000183783.7 . BCM GRCh38.p13 chr4 44175095 44175095 + G G T Missense_Mutation SNP ENST00000360029.4 exon2 c.C1117A p.P373T exonic ENSG00000183783.7 . nonsynonymous SNV ENSG00000183783.7:ENST00000360029.4:exon2:c.C1117A:p.P373T 4p13 C3N-00494 . . . . . . . . . 1.20 T T B B N N N T N 0.040 T T T 0.034 0.092 0.385 . T T T T T T 1.164 13.340 0.643 D N -0.457 1.262 -0.312 1.540 0.000 0.615 0.574 0.659 0.564 . 4.470 3.610 1.453 0.189 0.618 0.998 0.397 0.540 800 . . . . KCTD8 83 0 63 31 0.329787234042553 TRUE NA +ENSG00000198515.14 . BCM GRCh38.p13 chr4 47942058 47942058 + C C A Missense_Mutation SNP ENST00000514170.6 exon9 c.G540T p.W180C exonic ENSG00000198515.14 . nonsynonymous SNV ENSG00000198515.14:ENST00000514170.6:exon9:c.G540T:p.W180C 4p12 C3N-00494 . . . . . . . . . 15.20 D D B B D D M T D 0.873 T T D 0.363 0.631 0.708 0.661 D D D D D D 4.445 31 0.989 D D 0.119 2.961 0.289 3.652 1.000 0.638 0.670 0.574 0.542 . 5.780 5.780 4.770 1.026 0.599 1.000 1.000 0.994 380 Ion_transport_domain . . . CNGA1 187 1 195 23 0.105504587155963 TRUE TRUE +ENSG00000163629.13 . BCM GRCh38.p13 chr4 86807653 86807653 + T T - Frame_Shift_Del DEL ENST00000411767.7 exon45 c.6839delT p.I2280Mfs*17 exonic ENSG00000163629.13 . frameshift deletion ENSG00000163629.13:ENST00000411767.7:exon45:c.6839delT:p.I2280Mfs*17 4q21.3 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPN13 172 0 101 58 0.364779874213836 TRUE TRUE +ENSG00000138640.15 . BCM GRCh38.p13 chr4 88781233 88781233 + T T G Missense_Mutation SNP ENST00000264344.10 exon11 c.A1390C p.S464R exonic ENSG00000138640.15 . nonsynonymous SNV ENSG00000138640.15:ENST00000264344.10:exon11:c.A1390C:p.S464R 4q22.1 C3N-00494 . . . . . . . . . 5.20 D T B B N D M T N 0.332 T T T 0.033 0.269 0.705 0.214 T T T T T D 1.894 18.440 0.998 D N -0.312 1.586 -0.173 1.851 0.282 0.615 0.574 0.659 0.746 . 5.230 4.160 3.079 0.197 0.665 0.779 0.865 0.912 817 . . . . FAM13A 113 1 97 14 0.126126126126126 TRUE TRUE +ENSG00000186952.15 . BCM GRCh38.p13 chr5 110605172 110605172 + C C T Missense_Mutation SNP ENST00000455884.7 exon10 c.G1213A p.E405K exonic ENSG00000186952.15 . nonsynonymous SNV ENSG00000186952.15:ENST00000455884.7:exon10:c.G1213A:p.E405K 5q22.1 C3N-00494 . . . . . . . . . 1.19 T D B B N N L . N 0.090 T T T 0.027 0.217 0.014 . T T T T T T 0.812 9.510 0.830 N N -0.652 0.894 -0.691 0.913 0.000 0.554 0.588 0.574 0.564 . 5.470 2.700 -0.129 0.998 0.587 0.000 0.377 0.602 885 . . . . TMEM232 121 0 116 45 0.279503105590062 TRUE TRUE +ENSG00000145916.19 . BCM GRCh38.p13 chr5 178144058 178144058 + C C T Missense_Mutation SNP ENST00000313386.9 exon7 c.C644T p.A215V exonic ENSG00000145916.19 . nonsynonymous SNV ENSG00000145916.19:ENST00000313386.9:exon7:c.C644T:p.A215V 5q35.3 C3N-00494 . . . . . . . . . 17.19 D D D D D D M . D 0.893 D D D 0.576 0.806 0.582 0.729 T T D D D D 4.057 27.400 0.999 D D 0.711 7.276 0.592 6.124 1.000 0.672 0.702 0.698 0.636 . 4.300 4.300 7.772 1.026 0.549 1.000 0.996 0.969 917 CTLH/CRA_C-terminal_to_LisH_motif_domain;CRA_domain . . . RMND5B 120 0 82 36 0.305084745762712 TRUE TRUE +ENSG00000087116.16 . BCM GRCh38.p13 chr5 179135964 179135964 + C C T Missense_Mutation SNP ENST00000251582.12 exon13 c.G2030A p.G677E exonic ENSG00000087116.16 . nonsynonymous SNV ENSG00000087116.16:ENST00000251582.12:exon13:c.G2030A:p.G677E 5q35.3 C3N-00494 . . . . . . . . . 18.19 D D D D D D H T D 0.973 D D D 0.903 0.805 0.857 1.415 D D D D D . 3.853 26.100 0.999 D D 1.013 14.325 0.902 13.821 1.000 0.646 0.574 0.645 0.563 . 5.370 5.370 7.798 1.026 0.599 1.000 0.443 0.878 649 . . . . ADAMTS2 352 0 253 105 0.293296089385475 TRUE TRUE +ENSG00000137269.15 . BCM GRCh38.p13 chr6 53879020 53879020 + C C T Missense_Mutation SNP ENST00000370888.6 exon3 c.C305T p.S102L exonic ENSG00000137269.15 . nonsynonymous SNV ENSG00000137269.15:ENST00000370888.6:exon3:c.C305T:p.S102L 6p12.1 C3N-00494 . . . . . . . . . 8.20 D T B B D D N T D 0.587 T T T 0.173 0.467 0.321 0.311 T T T T D D 3.331 24.200 0.998 D D 0.113 2.936 0.278 3.590 1.000 0.644 0.574 0.688 0.655 . 5.060 5.060 6.963 1.026 0.599 1.000 0.998 0.997 821 . . . ID=COSV63823304;OCCURENCE=5(skin) LRRC1 153 0 118 51 0.301775147928994 TRUE TRUE +ENSG00000112280.16 . BCM GRCh38.p13 chr6 70283783 70283783 + A A C Missense_Mutation SNP ENST00000357250.10 exon6 c.T734G p.L245R exonic ENSG00000112280.16 . nonsynonymous SNV ENSG00000112280.16:ENST00000357250.10:exon6:c.T734G:p.L245R 6q13 C3N-00494 . . . . . . . . . 2.20 T T B B N D L T N 0.680 T T T 0.101 0.462 0.395 0.101 T T T T T T 1.892 18.430 0.627 D N -0.551 1.078 -0.399 1.374 0.071 0.497 0.590 0.563 0.530 . 5.560 3.090 3.388 0.302 -0.067 1.000 0.878 0.946 772 . . . . COL9A1 373 1 245 154 0.385964912280702 TRUE TRUE +ENSG00000016402.13 . BCM GRCh38.p13 chr6 137001839 137001839 + C C G Missense_Mutation SNP ENST00000316649.9 exon7 c.G1381C p.A461P exonic ENSG00000016402.13 . nonsynonymous SNV ENSG00000016402.13:ENST00000316649.9:exon7:c.G1381C:p.A461P 6q23.3 C3N-00494 . . . . . . . . . 0.20 T T B B N N N T N 0.089 T T T 0.020 0.115 0.393 0.326 T T T T T T 0.342 4.778 0.508 N N -1.433 0.104 -1.397 0.153 1.000 0.405 0.563 0.686 0.651 . 5.960 -1.110 -0.272 -0.264 -0.172 0.000 0.000 0.001 856 . . . . IL20RA 81 0 68 10 0.128205128205128 TRUE NA +ENSG00000164674.15 . BCM GRCh38.p13 chr6 158757339 158757339 + C C G Missense_Mutation SNP ENST00000611299.4 exon14 c.C1266G p.D422E exonic ENSG00000164674.15 . nonsynonymous SNV ENSG00000164674.15:ENST00000611299.4:exon14:c.C1266G:p.D422E 6q25.3 C3N-00494 . . . . . . . . . 3.20 T T P B D N M T N 0.131 T T T 0.099 0.189 0.085 0.020 T T T T D T 1.941 18.810 0.986 N N -0.287 1.645 -0.306 1.552 1.000 0.615 0.634 0.527 0.568 . 5.070 2.910 0.553 0.122 0.545 0.930 0.381 0.975 751 C2_domain . . . SYTL3 130 0 89 51 0.364285714285714 TRUE TRUE +ENSG00000085511.20 . BCM GRCh38.p13 chr6 161087884 161087884 + G G A Missense_Mutation SNP ENST00000392142.9 exon10 c.G2753A p.G918D exonic ENSG00000085511.20 . nonsynonymous SNV ENSG00000085511.20:ENST00000392142.9:exon10:c.G2753A:p.G918D 6q26 C3N-00494 . . . . . . . . . 4.20 T D B B N N N T N 0.339 T T D 0.043 0.353 0.534 0.413 T T T T T D 1.355 14.770 0.942 D N -0.599 0.989 -0.455 1.276 0.559 0.707 0.725 0.725 0.636 . 5.620 3.840 3.097 -0.244 -0.227 1.000 0.148 0.175 900 . . . . MAP3K4 165 0 139 24 0.147239263803681 TRUE TRUE +ENSG00000049540.17 . BCM GRCh38.p13 chr7 74060027 74060027 + T T G Missense_Mutation SNP ENST00000358929.8 exon24 c.T1643G p.I548S exonic ENSG00000049540.17 . nonsynonymous SNV ENSG00000049540.17:ENST00000358929.8:exon24:c.T1643G:p.I548S 7q11.23 C3N-00494 . . . . . . . . . 2.19 D T B B . N L T D 0.364 T T T 0.032 0.226 0.311 0.267 T T T T T T 1.571 16.190 0.910 N N -0.939 0.472 -1.032 0.450 1.000 0.701 0.590 0.717 0.563 . 2.820 1.650 0.227 1.039 0.661 0.000 0.001 0.002 917 . . . . ELN 729 1 558 218 0.280927835051546 TRUE TRUE +ENSG00000106328.10 . BCM GRCh38.p13 chr7 127598463 127598463 + G G A Missense_Mutation SNP ENST00000265825.6 exon4 c.G989A p.G330E exonic ENSG00000106328.10 . nonsynonymous SNV ENSG00000106328.10:ENST00000265825.6:exon4:c.G989A:p.G330E 7q32.1 C3N-00494 . . . . . . . . . 12.20 D D D D D D M T N 0.817 T T T 0.250 0.689 0.679 0.485 T T D D D T 3.565 24.900 0.997 D D 0.547 5.427 0.526 5.405 1.000 0.526 0.616 0.441 0.584 . 5.840 5.840 5.077 1.176 0.676 1.000 0.960 0.747 0 Fascin_domain . . . FSCN3 126 0 139 9 0.0608108108108108 TRUE TRUE +ENSG00000055609.18 . BCM GRCh38.p13 chr7 152358590 152358590 + T T - Frame_Shift_Del DEL ENST00000262189.11 exon2 c.247delA p.T83Qfs*22 exonic ENSG00000055609.18 . frameshift deletion ENSG00000055609.18:ENST00000262189.11:exon2:c.247delA:p.T83Qfs*22 7q36.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2C 60 0 92 20 0.178571428571429 TRUE TRUE +ENSG00000189233.12 . BCM GRCh38.p13 chr8 28060493 28060493 + C C T Missense_Mutation SNP ENST00000413272.7 exon8 c.G1030A p.G344S exonic ENSG00000189233.12 . nonsynonymous SNV ENSG00000189233.12:ENST00000413272.7:exon8:c.G1030A:p.G344S 8p21.1 C3N-00494 . . . . . . . . . 11.20 D D D D D D M T D 0.680 T T T 0.333 0.715 0.600 0.476 T T T T D T 3.697 25.400 0.999 D D 0.757 7.996 0.722 8.183 1.000 0.549 0.627 0.547 0.542 . 5.670 5.670 4.195 1.026 0.549 0.973 0.993 0.957 917 . . . . NUGGC 146 0 107 48 0.309677419354839 TRUE TRUE +ENSG00000104221.13 . BCM GRCh38.p13 chr8 37847005 37847005 + G G A Missense_Mutation SNP ENST00000220659.11 exon3 c.C385T p.H129Y exonic ENSG00000104221.13 . nonsynonymous SNV ENSG00000104221.13:ENST00000220659.11:exon3:c.C385T:p.H129Y 8p11.23 C3N-00494 . . . . . . . . . 6.19 T D P B N D L . N 0.459 T T T 0.141 0.395 0.689 0.267 T T T T D D 3.088 23.600 0.994 D D 0.285 3.704 0.360 4.089 1.000 0.707 0.725 0.698 0.636 . 5.540 4.660 5.827 1.176 0.676 1.000 0.977 0.983 799 . . . . BRF2 410 0 306 155 0.336225596529284 TRUE TRUE +ENSG00000181135.16 . BCM GRCh38.p13 chr8 143694016 143694016 + C C T Missense_Mutation SNP ENST00000358656.9 exon6 c.C602T p.T201I exonic ENSG00000181135.16 . nonsynonymous SNV ENSG00000181135.16:ENST00000358656.9:exon6:c.C602T:p.T201I 8q24.3 C3N-00494 . . . . . . . . . 1.18 T D B B . N N T N 0.140 T T T 0.040 0.513 0.347 0.280 T T T T T . 1.049 12.230 0.990 N N -0.669 0.866 -0.667 0.948 0.990 0.701 0.577 0.717 0.636 . 2.790 1.740 2.196 0.781 0.510 0.005 0.658 0.430 917 Zinc_finger_C2H2-type . . . ZNF707 96 0 76 36 0.321428571428571 TRUE TRUE +ENSG00000196932.12 . BCM GRCh38.p13 chr10 61428980 61428980 + G G T Missense_Mutation SNP ENST00000399298.8 exon4 c.C551A p.T184K exonic ENSG00000196932.12 . nonsynonymous SNV ENSG00000196932.12:ENST00000399298.8:exon4:c.C551A:p.T184K 10q21.2 C3N-00494 . . . . . . . . . 14.19 D D D D D D M . D 0.934 T T T 0.586 0.702 0.354 0.733 T T D D D D 3.717 25.500 0.994 D D 0.745 7.792 0.689 7.545 0.999 0.638 0.574 0.653 0.564 . 5.150 5.150 6.397 1.176 0.618 1.000 0.788 0.577 783 . . . . TMEM26 209 1 217 25 0.103305785123967 TRUE TRUE +ENSG00000185187.13 . BCM GRCh38.p13 chr11 406409 406409 + G G A Nonsense_Mutation SNP ENST00000431843.7 exon9 c.C1009T p.R337X exonic ENSG00000185187.13 . stopgain ENSG00000185187.13:ENST00000431843.7:exon9:c.C1009T:p.R337X 11p15.5 C3N-00494 8.425e-06 0 8.685e-05 0 0 0 0 0 rs778148546 3.6 . . . . N D . . . 0.799 . . . . . . . . . D D . . 5.569 34 0.940 N N -0.298 1.619 -0.683 0.924 1.000 0.742 0.663 0.775 0.651 . 3.010 -0.480 0.274 -0.168 -0.169 0.003 0.001 0.008 900 . . . ID=COSV58985876;OCCURENCE=1(large_intestine) SIGIRR 239 0 140 47 0.251336898395722 TRUE TRUE +ENSG00000166266.14 . BCM GRCh38.p13 chr11 108054634 108054656 + TTCTGTTTTTCAGTTAACCTTTG TTCTGTTTTTCAGTTAACCTTTG - Frame_Shift_Del DEL ENST00000393094.7 exon6 c.554_563del p.N186Lfs*43 exonic ENSG00000166266.14 . frameshift deletion ENSG00000166266.14:ENST00000393094.7:exon6:c.554_563del:p.N186Lfs*43 11q22.3 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUL5 64 0 70 22 0.239130434782609 NA TRUE +ENSG00000110400.11 . BCM GRCh38.p13 chr11 119664961 119664961 + C C T Missense_Mutation SNP ENST00000264025.8 exon6 c.G1340A p.G447E exonic ENSG00000110400.11 . nonsynonymous SNV ENSG00000110400.11:ENST00000264025.8:exon6:c.G1340A:p.G447E 11q23.3 C3N-00494 . . . . . . . . . 4.19 T T B B N D . T N 0.276 T T T 0.025 0.344 0.043 1.413 D T T T D T 1.890 18.410 0.995 D N -0.547 1.086 -0.445 1.294 0.998 0.742 0.634 0.775 0.655 . 3.780 2.850 3.440 1.022 0.539 0.988 0.993 0.985 876 . . . . NECTIN1 147 0 119 20 0.143884892086331 TRUE TRUE +ENSG00000111319.13 . BCM GRCh38.p13 chr12 6348082 6348082 + C C A Missense_Mutation SNP ENST00000228916.7 exon13 c.G1801T p.G601C exonic ENSG00000111319.13 . nonsynonymous SNV ENSG00000111319.13:ENST00000228916.7:exon13:c.G1801T:p.G601C 12p13.31 C3N-00494 . . . . . . . . . 10.20 D D D D N D M T D 0.283 T T D 0.254 0.382 0.888 0.553 T D T T D T 2.927 23.300 0.997 N N 0.299 3.776 0.181 3.090 1.000 0.672 0.563 0.702 0.550 . 4.380 4.380 0.352 0.947 0.599 0.000 0.928 0.674 866 . . . . SCNN1A 261 0 284 15 0.0501672240802676 TRUE TRUE +ENSG00000186666.6 . BCM GRCh38.p13 chr12 49838790 49838790 + C C A Nonsense_Mutation SNP ENST00000333924.6 exon2 c.G460T p.G154X exonic ENSG00000186666.6 . stopgain ENSG00000186666.6:ENST00000333924.6:exon2:c.G460T:p.G154X 12q13.12 C3N-00494 . . . . . . . . . 5.6 . . . . D D . . . 0.344 . . . . . . . . . D D . . 6.773 36 0.993 D N 0.974 13.120 0.841 11.464 1.000 0.651 0.709 0.659 0.655 . 5.420 5.420 3.982 0.943 0.544 1.000 0.999 0.995 292 Bin3-type_S-adenosyl-L-methionine_binding_domain . . ID=COSV61702721;OCCURENCE=1(autonomic_ganglia) BCDIN3D 298 2 242 28 0.103703703703704 TRUE TRUE +ENSG00000166987.15 . BCM GRCh38.p13 chr12 57526323 57526323 + A A T Missense_Mutation SNP ENST00000355673.8 exon6 c.A1355T p.Q452L exonic ENSG00000166987.15 . nonsynonymous SNV ENSG00000166987.15:ENST00000355673.8:exon6:c.A1355T:p.Q452L 12q13.3 C3N-00494 . . . . . . . . . 3.19 D T P P N D N . N 0.503 T T T 0.296 0.235 0.068 0.045 T T T T T T 3.418 24.500 0.986 D N 0.099 2.881 0.141 2.908 1.000 0.672 0.698 0.644 0.711 . 3.900 3.900 1.076 1.312 0.756 0.994 1.000 0.982 411 . . . . MBD6 72 0 72 31 0.300970873786408 TRUE TRUE +ENSG00000111707.12 . BCM GRCh38.p13 chr12 118414336 118414336 + T T C Missense_Mutation SNP ENST00000543473.2 exon12 c.T890C p.I297T exonic ENSG00000111707.12 . nonsynonymous SNV ENSG00000111707.12:ENST00000543473.2:exon12:c.T890C:p.I297T 12q24.23 C3N-00494 . . . . . . . . . 15.19 D D P P D D M . D 0.905 T T D 0.554 0.534 0.703 2.100 D D D D D D 4.398 31 0.994 D D 0.723 7.446 0.736 8.489 1.000 0.372 0.546 0.464 0.492 . 5.800 5.800 7.640 1.138 0.665 1.000 0.996 0.973 917 . . . . SUDS3 117 0 98 42 0.3 TRUE TRUE +ENSG00000088448.14 . BCM GRCh38.p13 chr13 110914796 110914796 + G G T Missense_Mutation SNP ENST00000267339.6 exon1 c.C139A p.H47N exonic ENSG00000088448.14 . nonsynonymous SNV ENSG00000088448.14:ENST00000267339.6:exon1:c.C139A:p.H47N 13q34 C3N-00494 . . . . . . . . . 2.20 T T B B N N N T N 0.177 T T D 0.051 0.282 0.491 0.351 T T T T T T 1.195 13.590 0.679 D N -0.778 0.688 -0.652 0.969 1.000 0.442 0.522 0.504 0.562 . 3.790 1.190 1.652 0.169 0.522 0.851 0.440 0.744 988 Ankyrin_repeat-containing_domain . . . ANKRD10 216 0 157 63 0.286363636363636 TRUE TRUE +ENSG00000104044.16 . BCM GRCh38.p13 chr15 28027871 28027871 + C C T Missense_Mutation SNP ENST00000354638.8 exon4 c.G515A p.R172K exonic ENSG00000104044.16 . nonsynonymous SNV ENSG00000104044.16:ENST00000354638.8:exon4:c.G515A:p.R172K 15q13.1 C3N-00494 . . . . . . . . . 5.20 T T B B D N L D N 0.229 T D T 0.057 0.470 0.965 0.095 T T T T T T 3.377 24.300 0.962 D D -0.288 1.645 -0.182 1.829 0.091 0.554 0.588 0.547 0.564 . 5.130 4.220 3.032 1.001 0.594 1.000 0.074 0.060 940 . . . . OCA2 262 0 175 100 0.363636363636364 TRUE TRUE +ENSG00000166068.13 . BCM GRCh38.p13 chr15 38351059 38351059 + G G A Missense_Mutation SNP ENST00000299084.9 exon7 c.G730A p.E244K exonic ENSG00000166068.13 . nonsynonymous SNV ENSG00000166068.13:ENST00000299084.9:exon7:c.G730A:p.E244K 15q14 C3N-00494 . . . . . . . . . 17.20 D D D P D D M D N 0.574 D D D 0.623 0.432 0.656 0.732 D T D D D D 4.141 28.100 0.999 D D 0.785 8.488 0.806 10.309 1.000 0.707 0.588 0.725 0.714 . 5.830 5.830 8.002 1.176 0.676 1.000 1.000 1.000 925 c-Kit-binding_domain . . . SPRED1 165 0 218 35 0.138339920948617 TRUE TRUE +ENSG00000183496.6 . BCM GRCh38.p13 chr15 82043819 82043819 + G G C Missense_Mutation SNP ENST00000329713.5 exon2 c.C1051G p.P351A exonic ENSG00000183496.6 . nonsynonymous SNV ENSG00000183496.6:ENST00000329713.5:exon2:c.C1051G:p.P351A 15q25.2 C3N-00494 . . . . . . . . . 0.20 T T B B N N L T N 0.246 T T T 0.058 0.202 0.255 0.672 T T T T T T 1.801 17.740 0.928 N N -0.621 0.949 -0.524 1.163 1.000 0.726 0.588 0.594 0.662 . 4.710 4.710 2.616 1.172 0.672 0.088 0.568 0.711 919 . . . . MEX3B 32 0 30 8 0.210526315789474 TRUE TRUE +ENSG00000140678.17 . BCM GRCh38.p13 chr16 31362965 31362965 + T T A Missense_Mutation SNP ENST00000268296.9 exon13 c.T1390A p.S464T exonic ENSG00000140678.17 . nonsynonymous SNV ENSG00000140678.17:ENST00000268296.9:exon13:c.T1390A:p.S464T 16p11.2 C3N-00494 . . . . . . . . . 0.19 T T B B . N L T N 0.275 T T T 0.044 0.585 0.279 0.699 T T T T T T 1.020 11.870 0.907 N N -0.876 0.551 -0.888 0.637 0.041 0.706 0.710 0.576 0.613 . 3.580 -0.433 -0.434 -0.215 0.605 0.000 0.059 0.326 294 . . . . ITGAX 160 0 166 16 0.0879120879120879 NA TRUE +ENSG00000102904.14 . BCM GRCh38.p13 chr16 67821166 67821166 + C C T Missense_Mutation SNP ENST00000388833.7 exon4 c.C166T p.R56C exonic ENSG00000102904.14 . nonsynonymous SNV ENSG00000102904.14:ENST00000388833.7:exon4:c.C166T:p.R56C 16q22.1 C3N-00494 0.0002 0.0001 0.0020 0 0 0 0.0015 7.1e-05 rs746465595 8.19 D D D P D D M . D 0.664 T T T 0.215 . 0.339 0.488 T T T T T D 3.933 26.500 0.998 N N 0.344 4.014 0.343 3.978 0.892 0.649 0.547 0.596 0.613 . 4.480 3.450 1.749 1.014 0.585 0.983 1.000 0.990 8 Translin-associated_factor_X-interacting_protein_1,_N-terminal . . . TSNAXIP1 160 0 172 17 0.0899470899470899 TRUE NA +ENSG00000140873.16 . BCM GRCh38.p13 chr16 77293230 77293230 + C C A Missense_Mutation SNP ENST00000282849.10 exon20 c.G3035T p.R1012M exonic ENSG00000140873.16 . nonsynonymous SNV ENSG00000140873.16:ENST00000282849.10:exon20:c.G3035T:p.R1012M 16q23.1 C3N-00494 . . . . . . . . . 9.20 D D B P D D L T D 0.553 T T D 0.293 0.510 0.704 . T T T T D T 3.119 23.700 0.963 D D 0.149 3.083 0.140 2.906 1.000 0.707 0.590 0.602 0.714 . 6.030 3.990 2.670 0.126 0.594 1.000 0.882 0.801 848 . . . ID=COSV99270800;OCCURENCE=1(stomach),1(lung) ADAMTS18 141 0 194 13 0.0628019323671498 TRUE TRUE +ENSG00000091622.16 . BCM GRCh38.p13 chr17 6463756 6463756 + C C T Missense_Mutation SNP ENST00000262483.13 exon17 c.G2282A p.R761Q exonic ENSG00000091622.16 . nonsynonymous SNV ENSG00000091622.16:ENST00000262483.13:exon17:c.G2282A:p.R761Q 17p13.2 C3N-00494 . . . . . . . . rs941922159 19.20 D D D D D D M T D 0.937 D D D 0.783 . 0.891 1.461 D D D D D D 4.290 29.500 1.000 D D 0.837 9.544 0.790 9.835 1.000 0.516 0.610 0.527 0.613 . 5.090 5.090 7.847 1.026 0.599 1.000 0.967 0.995 814 LNS2/PITP . . . PITPNM3 215 0 201 26 0.114537444933921 TRUE NA +ENSG00000108551.5 . BCM GRCh38.p13 chr17 17495488 17495488 + - NA TCGA Frame_Shift_Ins INS ENST00000225688.4 exon2 c.482_483insTCGA p.E161Dfs*224 exonic ENSG00000108551.5 . frameshift insertion ENSG00000108551.5:ENST00000225688.4:exon2:c.482_483insTCGA:p.E161Dfs*224 17p11.2 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASD1 NA NA NA NA NA NA NA +ENSG00000011143.17 . BCM GRCh38.p13 chr17 58219215 58219215 + A A T Missense_Mutation SNP ENST00000393119.7 exon1 c.T16A p.W6R exonic ENSG00000011143.17 . nonsynonymous SNV ENSG00000011143.17:ENST00000393119.7:exon1:c.T16A:p.W6R 17q22 C3N-00494 . . . . . . . . . 14.20 D D D D U D M T N 0.607 D D D 0.358 0.663 0.986 1.110 T T D D D T 4.485 32 0.813 D D 0.557 5.512 0.489 5.058 1.000 0.442 0.522 0.522 0.373 . 4.880 4.880 7.155 1.312 0.743 1.000 0.710 0.293 572 . . . . MKS1 265 0 185 101 0.353146853146853 TRUE TRUE +ENSG00000171595.14 . BCM GRCh38.p13 chr17 74314164 74314164 + A A G Missense_Mutation SNP ENST00000311014.11 exon13 c.A1766G p.E589G exonic ENSG00000171595.14 . nonsynonymous SNV ENSG00000171595.14:ENST00000311014.11:exon13:c.A1766G:p.E589G 17q25.1 C3N-00494 . . . . . . . . . 2.20 D D B B N N L T N 0.142 T T T 0.210 0.182 0.499 0.276 T T T T T T 1.616 16.480 0.943 N N -1.137 0.275 -1.311 0.202 0.013 0.615 0.588 0.659 0.613 . 3.270 -5.840 0.020 0.117 0.665 0.000 0.001 0.007 744 . . . . DNAI2 344 0 320 113 0.260969976905312 TRUE TRUE +ENSG00000141449.14 . BCM GRCh38.p13 chr18 21395416 21395416 + G G C Missense_Mutation SNP ENST00000580732.6 exon5 c.G387C p.L129F exonic ENSG00000141449.14 . nonsynonymous SNV ENSG00000141449.14:ENST00000580732.6:exon5:c.G387C:p.L129F 18q11.1 C3N-00494 . . . . . . . . . 12.19 D D D D . D L T D 0.838 T T D 0.302 0.306 0.186 . T T D D D D 2.780 23.000 0.996 D N 0.202 3.312 0.105 2.756 0.999 0.615 0.574 0.577 0.655 . 4.990 0.871 0.576 0.212 -0.104 1.000 1.000 0.996 435 . . . . GREB1L 198 0 139 80 0.365296803652968 TRUE TRUE +ENSG00000256463.8 . BCM GRCh38.p13 chr18 78992571 78992571 + G G T Missense_Mutation SNP ENST00000537592.6 exon2 c.G580T p.G194C exonic ENSG00000256463.8 . nonsynonymous SNV ENSG00000256463.8:ENST00000537592.6:exon2:c.G580T:p.G194C 18q23 C3N-00494 . . . . . . . . . 5.20 D D D P N N M T N 0.317 T T D 0.073 0.433 0.503 0.420 T T T T T T 1.532 15.940 0.610 N N -0.429 1.320 -0.638 0.989 0.830 0.646 0.588 0.645 0.563 . 3.890 0.807 0.506 0.048 -0.368 0.001 0.002 0.001 . . . . . SALL3 115 0 52 32 0.380952380952381 TRUE TRUE +ENSG00000125730.17 . BCM GRCh38.p13 chr19 6678187 6678187 + C C A Missense_Mutation SNP ENST00000245907.11 exon40 c.G4815T p.W1605C exonic ENSG00000125730.17 . nonsynonymous SNV ENSG00000125730.17:ENST00000245907.11:exon40:c.G4815T:p.W1605C 19p13.3 C3N-00494 . . . . . . . . . 13.20 D D D D U D M T D 0.806 T T D 0.402 0.768 0.596 1.963 T T D T D D 4.094 27.700 0.991 D D 0.612 6.045 0.512 5.269 1.000 0.726 0.608 0.594 0.506 . 5.240 5.240 3.905 1.008 0.547 1.000 0.990 0.451 929 Netrin_domain;Complement_C3-like,_NTR_domain;Netrin_module,_non-TIMP_type . . . C3 564 0 401 191 0.322635135135135 TRUE TRUE +ENSG00000261857.7 . BCM GRCh38.p13 chr19 40775639 40775639 + C C T Missense_Mutation SNP ENST00000263369.4 exon1 c.C97T p.R33W exonic ENSG00000261857.7;ENSG00000268975.2 . nonsynonymous SNV ENSG00000261857.7:ENST00000263369.4:exon1:c.C97T:p.R33W,ENSG00000268975.2:ENST00000600729.2:exon2:c.C97T:p.R33W 19q13.2 C3N-00494 8.237e-06 0 0 0 0 1.498e-05 0 0 rs577492559 2.20 T T B B N N N T N 0.257 T T D 0.201 . 0.562 0.231 T T T T T D 1.955 18.920 0.972 N N -0.581 1.022 -0.577 1.082 1.000 0.581 0.624 0.565 0.568 . 4.690 -5.410 0.345 0.138 0.599 0.451 0.998 0.996 495 . . . . MIA 162 0 161 13 0.0747126436781609 TRUE NA +ENSG00000167646.14 . BCM GRCh38.p13 chr19 55159591 55159591 + T T C Missense_Mutation SNP ENST00000524407.7 exon11 c.A1180G p.I394V exonic ENSG00000167646.14;ENSG00000267110.1 . nonsynonymous SNV ENSG00000167646.14:ENST00000524407.7:exon11:c.A1180G:p.I394V 19q13.42 C3N-00494 . . . . . . . . . 1.19 T T B B N N . T N 0.158 T T T 0.008 0.358 0.048 0.200 T T T T D T 1.292 14.330 0.929 N N -0.883 0.542 -0.783 0.782 1.000 0.403 0.547 0.585 0.563 . 4.210 -0.687 0.027 1.138 0.609 0.206 0.997 0.907 988 Dynein_assembly_factor_3,_C-terminal_domain . . . DNAAF3 55 0 39 18 0.315789473684211 TRUE TRUE +ENSG00000182621.18 . BCM GRCh38.p13 chr20 8628324 8628324 + G G A Missense_Mutation SNP ENST00000338037.11 exon4 c.G277A p.G93R exonic ENSG00000182621.18 . nonsynonymous SNV ENSG00000182621.18:ENST00000338037.11:exon4:c.G277A:p.G93R 20p12.3 C3N-00494 . . . . . . . . . 12.20 D D D D N D L T D 0.799 T T T 0.319 0.532 0.532 1.294 D D T T D D 3.417 24.500 0.999 D D 0.692 7.010 0.726 8.258 0.999 0.615 0.574 0.659 0.655 . 6.170 6.170 6.565 1.176 0.676 1.000 0.994 0.941 861 PLC-beta,_PH_domain . . ID=COSV62046201;OCCURENCE=1(skin) PLCB1 156 0 156 59 0.274418604651163 TRUE TRUE +ENSG00000182591.6 . BCM GRCh38.p13 chr21 30881169 30881169 + C C A Missense_Mutation SNP ENST00000332378.6 exon1 c.G356T p.S119I exonic ENSG00000182591.6 . nonsynonymous SNV ENSG00000182591.6:ENST00000332378.6:exon1:c.G356T:p.S119I 21q22.11 C3N-00494 . . . . . . . . . 0.19 T T B B N N . T N 0.280 T T T 0.039 0.548 0.130 0.379 T T T T T T 1.543 16.010 0.912 N N -0.657 0.886 -0.693 0.910 0.000 0.487 0.574 0.574 0.564 . 5.250 1.290 0.302 -0.299 -0.273 0.300 0.409 0.811 787 . . . . KRTAP11-1 281 1 232 97 0.29483282674772 TRUE TRUE +ENSG00000099940.12 . BCM GRCh38.p13 chr22 20883515 20883515 + T T A Missense_Mutation SNP ENST00000215730.12 exon4 c.T565A p.Y189N exonic ENSG00000099940.12 . nonsynonymous SNV ENSG00000099940.12:ENST00000215730.12:exon4:c.T565A:p.Y189N 22q11.21 C3N-00494 . . . . . . . . . 6.19 T T P P D D M . N 0.479 T T T 0.091 0.443 0.381 0.345 T T T T D D 2.885 23.200 0.971 D N 0.190 3.257 0.195 3.159 0.999 0.706 0.725 0.710 0.711 . 4.380 4.380 2.062 1.138 0.609 0.984 0.264 0.626 754 . . . . SNAP29 432 0 276 128 0.316831683168317 TRUE TRUE +ENSG00000100228.12 . BCM GRCh38.p13 chr22 23146608 23146608 + T T A Missense_Mutation SNP ENST00000263116.6 exon2 c.T190A p.C64S exonic ENSG00000100228.12 . nonsynonymous SNV ENSG00000100228.12:ENST00000263116.6:exon2:c.T190A:p.C64S 22q11.23 C3N-00494 . . . . . . . . . 0.20 T T B B N N N T N 0.099 T T T 0.065 0.279 0.341 0.502 T T T T T T 0.624 7.744 0.807 N N -1.253 0.192 -1.145 0.332 1.000 0.549 0.588 0.590 0.568 . 5.090 -0.168 0.025 0.124 0.661 0.001 0.993 0.952 988 . . . . RAB36 112 0 63 41 0.394230769230769 TRUE TRUE +ENSG00000214717.12 . BCM GRCh38.p13 chrX 2489005 2489005 + A A G Missense_Mutation SNP ENST00000652001.1 exon2 c.T1715C p.L572P exonic ENSG00000214717.12 . nonsynonymous SNV ENSG00000214717.12:ENST00000652001.1:exon2:c.T1715C:p.L572P Xp22.33 C3N-00494 . . . . . . . . . 12.19 D D D D U N M T D 0.706 T T T 0.449 0.831 0.738 1.648 D D D D D T 3.028 23.500 0.998 D . . . . . 1.000 . . . . . 2.970 2.970 6.029 0.840 0.548 1.000 0.984 0.730 1000 HAT,_C-terminal_dimerisation_domain . . . ZBED1 43 0 32 18 0.36 TRUE TRUE +ENSG00000183337.17 . BCM GRCh38.p13 chrX 40077923 40077923 + A A T Missense_Mutation SNP ENST00000378444.9 exon2 c.T7A p.S3T exonic ENSG00000183337.17 . nonsynonymous SNV ENSG00000183337.17:ENST00000378444.9:exon2:c.T7A:p.S3T Xp11.4 C3N-00494 . . . . . . . . . 9.18 D D D D . D L T D 0.587 T T D 0.189 0.189 0.712 0.877 T T T T D T 3.574 24.900 0.996 D . . . . . 1.000 . . . . . 5.510 5.510 6.786 1.312 0.756 1.000 1.000 1.000 912 . . . . BCOR 180 0 62 116 0.651685393258427 TRUE TRUE +ENSG00000133142.17 . BCM GRCh38.p13 chrX 103586981 103586981 + T T A Missense_Mutation SNP ENST00000472745.1 exon3 c.T306A p.S102R exonic ENSG00000133142.17 . nonsynonymous SNV ENSG00000133142.17:ENST00000472745.1:exon3:c.T306A:p.S102R Xq22.2 C3N-00494 . . . . . . . . . 3.18 D D B B . N L T D 0.126 T T T 0.020 0.309 0.043 0.588 T T T T T T -0.692 0.046 0.673 N . . . . . 1.000 . . . . . 3.160 -1.930 -7.261 -2.209 -0.909 0.000 0.000 0.000 428 . . . . TCEAL4 98 1 34 85 0.714285714285714 TRUE TRUE +ENSG00000123572.17 . BCM GRCh38.p13 chrX 105906472 105906472 + C C A Missense_Mutation SNP ENST00000243300.14 exon11 c.C904A p.P302T exonic ENSG00000123572.17 . nonsynonymous SNV ENSG00000123572.17:ENST00000243300.14:exon11:c.C904A:p.P302T Xq22.3 C3N-00494 . . . . . . . . . 13.19 D D D D D D H T D 0.868 T T D 0.541 0.696 0.761 . T T D D D T 3.374 24.300 0.998 D . . . . . 1.000 . . . . . 5.270 5.270 7.308 1.026 0.599 1.000 0.998 0.929 35 Protein_kinase_domain . . . NRK 51 0 67 25 0.271739130434783 TRUE TRUE +ENSG00000122145.15 . BCM GRCh38.p13 chrX 80026869 80026869 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000122145.15 ENST00000373296.8:exon6:c.798+1G>A . . Xq21.1 C3N-00494 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.761 33 0.994 D . . . . . 0.431 . . . . 0.896 3.880 3.880 9.047 0.983 0.676 1.000 0.991 0.936 60 . . . . TBX22 130 0 168 40 0.192307692307692 TRUE TRUE +ENSG00000163554.15 . BCM GRCh38.p13 chr1 158653360 158653360 + C C T Silent SNP ENST00000643759.2 exon22 c.G3102A p.L1034L exonic ENSG00000163554.15 . synonymous SNV ENSG00000163554.15:ENST00000643759.2:exon22:c.G3102A:p.L1034L 1q23.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPTA1 347 0 425 60 0.123711340206186 TRUE TRUE +ENSG00000168827.15 . BCM GRCh38.p13 chr3 158653366 158653366 + C C T Silent SNP ENST00000486715.6 exon7 c.C897T p.S299S exonic ENSG00000168827.15 . synonymous SNV ENSG00000168827.15:ENST00000486715.6:exon7:c.C897T:p.S299S 3q25.32 C3N-00494 8.324e-06 0 0 0 0 1.516e-05 0 0 rs763546447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GFM1 136 0 214 43 0.167315175097276 TRUE NA +ENSG00000186105.8 . BCM GRCh38.p13 chr5 62580044 62580044 + T T C Silent SNP ENST00000334994.6 exon2 c.T606C p.H202H exonic ENSG00000186105.8 . synonymous SNV ENSG00000186105.8:ENST00000334994.6:exon2:c.T606C:p.H202H 5q12.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC70 223 0 282 120 0.298507462686567 TRUE TRUE +ENSG00000205302.7 . BCM GRCh38.p13 chr5 122775130 122775130 + G G A Silent SNP ENST00000379516.7 exon1 c.G27A p.P9P exonic ENSG00000205302.7 . synonymous SNV ENSG00000205302.7:ENST00000379516.7:exon1:c.G27A:p.P9P 5q23.2 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX2 117 0 96 41 0.299270072992701 TRUE TRUE +ENSG00000215045.8 . BCM GRCh38.p13 chr7 6551317 6551317 + G G C Silent SNP ENST00000457091.2 exon1 c.C120G p.A40A exonic ENSG00000215045.8 . synonymous SNV ENSG00000215045.8:ENST00000457091.2:exon1:c.C120G:p.A40A 7p22.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRID2IP 268 0 246 45 0.154639175257732 TRUE NA +ENSG00000070882.13 . BCM GRCh38.p13 chr7 24872046 24872046 + T T C Silent SNP ENST00000313367.7 exon3 c.A120G p.G40G exonic ENSG00000070882.13 . synonymous SNV ENSG00000070882.13:ENST00000313367.7:exon3:c.A120G:p.G40G 7p15.3 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OSBPL3 152 0 131 66 0.33502538071066 TRUE TRUE +ENSG00000132297.12 . BCM GRCh38.p13 chr8 132079923 132079923 + G G C Silent SNP ENST00000414222.1 exon10 c.C720G p.T240T exonic ENSG00000132297.12 . synonymous SNV ENSG00000132297.12:ENST00000414222.1:exon10:c.C720G:p.T240T 8q24.22 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HHLA1 151 0 132 74 0.359223300970874 TRUE TRUE +ENSG00000148584.15 . BCM GRCh38.p13 chr10 50816163 50816163 + G G C Silent SNP ENST00000373993.5 exon7 c.C984G p.T328T exonic ENSG00000148584.15 . synonymous SNV ENSG00000148584.15:ENST00000373993.5:exon7:c.C984G:p.T328T 10q11.23 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . A1CF 253 0 181 93 0.339416058394161 TRUE TRUE +ENSG00000138182.14 . BCM GRCh38.p13 chr10 89754649 89754649 + T T A Silent SNP ENST00000371728.7 exon26 c.T4479A p.R1493R exonic ENSG00000138182.14 . synonymous SNV ENSG00000138182.14:ENST00000371728.7:exon26:c.T4479A:p.R1493R 10q23.31 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF20B 39 0 38 18 0.321428571428571 TRUE NA +ENSG00000171813.14 . BCM GRCh38.p13 chr10 132405247 132405247 + G G T Silent SNP ENST00000305233.6 exon2 c.G747T p.R249R exonic ENSG00000171813.14 . synonymous SNV ENSG00000171813.14:ENST00000305233.6:exon2:c.G747T:p.R249R 10q26.3 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PWWP2B 177 0 138 12 0.08 TRUE TRUE +ENSG00000171533.11 . BCM GRCh38.p13 chr11 75605939 75605939 + C C T Silent SNP ENST00000304771.7 exon3 c.G1185A p.R395R exonic ENSG00000171533.11 . synonymous SNV ENSG00000171533.11:ENST00000304771.7:exon3:c.G1185A:p.R395R 11q13.5 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP6 256 0 274 43 0.135646687697161 TRUE TRUE +ENSG00000177169.10 . BCM GRCh38.p13 chr12 131913256 131913256 + T T C Silent SNP ENST00000321867.6 exon14 c.T1155C p.S385S exonic ENSG00000177169.10 . synonymous SNV ENSG00000177169.10:ENST00000321867.6:exon14:c.T1155C:p.S385S 12q24.33 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ULK1 72 0 63 5 0.0735294117647059 TRUE TRUE +ENSG00000126790.12 . BCM GRCh38.p13 chr14 59484002 59484002 + G G A Silent SNP ENST00000247194.9 exon1 c.C315T p.G105G exonic ENSG00000126790.12 . synonymous SNV ENSG00000126790.12:ENST00000247194.9:exon1:c.C315T:p.G105G 14q23.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . L3HYPDH 146 0 91 59 0.393333333333333 TRUE NA +ENSG00000183496.6 . BCM GRCh38.p13 chr15 82043670 82043670 + T T G Silent SNP ENST00000329713.5 exon2 c.A1200C p.A400A exonic ENSG00000183496.6 . synonymous SNV ENSG00000183496.6:ENST00000329713.5:exon2:c.A1200C:p.A400A 15q25.2 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEX3B 56 0 30 4 0.117647058823529 NA TRUE +ENSG00000182175.14 . BCM GRCh38.p13 chr15 93052263 93052263 + G G A Silent SNP ENST00000557301.2 exon3 c.C399T p.R133R exonic ENSG00000182175.14 . synonymous SNV ENSG00000182175.14:ENST00000557301.2:exon3:c.C399T:p.R133R 15q26.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61235389;OCCURENCE=1(upper_aerodigestive_tract) RGMA 82 0 49 10 0.169491525423729 TRUE TRUE +ENSG00000103056.12 . BCM GRCh38.p13 chr16 68371177 68371177 + T T A Silent SNP ENST00000219334.10 exon3 c.A1005T p.A335A exonic ENSG00000103056.12 . synonymous SNV ENSG00000103056.12:ENST00000219334.10:exon3:c.A1005T:p.A335A 16q22.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMPD3 120 0 110 38 0.256756756756757 TRUE TRUE +ENSG00000186919.13 . BCM GRCh38.p13 chr17 76081700 76081700 + C C A Silent SNP ENST00000334586.10 exon7 c.C825A p.L275L exonic ENSG00000186919.13 . synonymous SNV ENSG00000186919.13:ENST00000334586.10:exon7:c.C825A:p.L275L 17q25.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZACN 243 0 162 50 0.235849056603774 TRUE TRUE +ENSG00000185231.5 . BCM GRCh38.p13 chr18 13884952 13884952 + G G A Silent SNP ENST00000327606.4 exon2 c.C567T p.I189I exonic ENSG00000185231.5 . synonymous SNV ENSG00000185231.5:ENST00000327606.4:exon2:c.C567T:p.I189I 18p11.21 C3N-00494 . . . . . . . . rs267605119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59617516;OCCURENCE=1(stomach) MC2R 149 0 119 64 0.349726775956284 TRUE TRUE +ENSG00000171804.11 . BCM GRCh38.p13 chr19 37886564 37886564 + G G A Silent SNP ENST00000447313.7 exon6 c.C7107T p.S2369S exonic ENSG00000171804.11 . synonymous SNV ENSG00000171804.11:ENST00000447313.7:exon6:c.C7107T:p.S2369S 19q13.13 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR87 21 0 16 4 0.2 TRUE NA +ENSG00000162521.19 . BCM GRCh38.p13 chr1 32673517 32673517 + A A T Intron SNP NA NA NA NA intronic ENSG00000162521.19 . . . 1p35.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBBP4 45 0 33 7 0.175 NA TRUE +ENSG00000114923.17 . BCM GRCh38.p13 chr2 219630075 219630075 + G G C Intron SNP NA NA NA NA intronic ENSG00000114923.17 . . . 2q35 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC4A3 34 0 31 3 0.0882352941176471 TRUE NA +ENSG00000120889.13 . BCM GRCh38.p13 chr8 23021149 23021149 + A A C 3'UTR SNP NA NA NA NA UTR3 ENSG00000120889.13 ENST00000276431.9:c.*1522T>G . . 8p21.3 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNFRSF10B 572 0 682 100 0.127877237851662 TRUE NA +ENSG00000207492.1 . BCM GRCh38.p13 chr12 40565795 40565795 + G G C IGR SNP NA NA NA NA intergenic ENSG00000207492.1;ENSG00000018236.15 dist=11528;dist=126644 . . 12q12 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNU6-713P 85 0 73 39 0.348214285714286 TRUE NA +ENSG00000234773.7 . BCM GRCh38.p13 chr19 12247635 12247635 + T T G IGR SNP NA NA NA NA intergenic ENSG00000234773.7;ENSG00000213293.4 dist=37829;dist=12491 . . 19p13.2 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC012618.3 139 0 134 43 0.242937853107345 TRUE NA +ENSG00000261400.1 . BCM GRCh38.p13 chr19 31592850 31592850 + C C - RNA SNP NA NA NA NA ncRNA_exonic ENSG00000261400.1;ENSG00000267465.7 . . . 19q12 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC011525.1 131 0 169 22 0.115183246073298 TRUE NA +ENSG00000275358.1 . BCM GRCh38.p13 chr20 25071618 25071618 + - NA TAAGGAGGGGAG IGR INS NA NA NA NA intergenic ENSG00000275358.1;ENSG00000100987.14 dist=8027;dist=3818 . . 20p11.21 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL080312.2 NA NA NA NA NA NA NA +ENSG00000275358.1 . BCM GRCh38.p13 chr20 25071635 25071635 + T T G IGR SNP NA NA NA NA intergenic ENSG00000275358.1;ENSG00000100987.14 dist=8044;dist=3801 . . 20p11.21 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL080312.2 329 0 307 74 0.194225721784777 TRUE NA +ENSG00000183963.18 . BCM GRCh38.p13 chr22 31100958 31100958 + G G A Intron SNP NA NA NA NA intronic ENSG00000183963.18 . . . 22q12.2 C3N-00494 1.865e-05 0 9.569e-05 0 0 0 0 6.889e-05 rs765152030 11.17 D D D D . D . T D 0.869 T T D 0.383 0.570 0.634 . . D T T T D 3.242 24.000 0.996 D D 0.804 8.869 0.757 8.977 1.000 0.706 0.710 0.723 0.711 . 4.410 4.410 9.407 1.172 0.672 1.000 1.000 1.000 632 Calponin_homology_domain . . . SMTN 126 0 96 37 0.278195488721804 TRUE NA +ENSG00000112685.14 . BCM GRCh38.p13 chr6 486721 486722 + AG AG TT Unknown MNP ENST00000230449.9 exon28 c.2724_2725delinsAA p.H908_L909delinsQM exonic ENSG00000112685.14 . nonframeshift substitution ENSG00000112685.14:ENST00000230449.9:exon28:c.2724_2725delinsAA:p.H908_L909delinsQM 6p25.3 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXOC2 122 26 98 25 0.203252032520325 TRUE TRUE +ENSG00000156395.13 . BCM GRCh38.p13 chr10 104977414 104977415 + GG GG TT Unknown MNP ENST00000369701.8 exon4 c.875_876delinsTT p.R292L exonic ENSG00000156395.13 . nonframeshift substitution ENSG00000156395.13:ENST00000369701.8:exon4:c.875_876delinsTT:p.R292L 10q25.1 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORCS3 124 20 163 21 0.114130434782609 TRUE TRUE +ENSG00000140854.13 . BCM GRCh38.p13 chr16 57756054 57756056 + GCA GCA CCG Unknown MNP ENST00000379661.8 exon18 c.1706_1708delinsCCG p.S569_K570delinsTE exonic ENSG00000140854.13 . nonframeshift substitution ENSG00000140854.13:ENST00000379661.8:exon18:c.1706_1708delinsCCG:p.S569_K570delinsTE 16q21 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KATNB1 179 41 140 43 0.234972677595628 TRUE NA +ENSG00000184675.11 . BCM GRCh38.p13 chrX 64189979 64189980 + CC CC AT Unknown MNP ENST00000374869.8 exon2 c.3307_3308delinsAT p.G1103M exonic ENSG00000184675.11 . nonframeshift substitution ENSG00000184675.11:ENST00000374869.8:exon2:c.3307_3308delinsAT:p.G1103M Xq11.2 C3N-00494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMER1 48 4 44 4 0.0833333333333333 TRUE NA +ENSG00000159592.11 . BCM GRCh38.p13 chr1 45629623 45629623 + G G C Missense_Mutation SNP ENST00000355105.8 exon12 c.C1225G p.P409A exonic ENSG00000159592.11 . nonsynonymous SNV ENSG00000159592.11:ENST00000355105.8:exon12:c.C1225G:p.P409A 1p34.1 C3N-00495 . . . . . . . . . 13.20 D D B B D D M T D 0.851 T T D 0.466 0.372 0.609 0.243 T T D D D D 3.145 23.700 0.988 D D 0.564 5.574 0.687 7.523 1.000 0.707 0.725 0.725 0.723 . 6.160 6.160 9.556 1.176 0.676 1.000 1.000 0.998 206 . . . . GPBP1L1 205 0 96 21 0.179487179487179 TRUE TRUE +ENSG00000169231.13 . BCM GRCh38.p13 chr1 155198056 155198056 + C C T Missense_Mutation SNP ENST00000368378.7 exon18 c.G2239A p.V747I exonic ENSG00000169231.13 . nonsynonymous SNV ENSG00000169231.13:ENST00000368378.7:exon18:c.G2239A:p.V747I 1q22 C3N-00495 . . . . . . . . . 11.20 T T B B D D M D N 0.323 D D T 0.398 0.705 0.344 0.456 T D D T D D 2.437 22.200 0.997 D N 0.170 3.174 0.298 3.705 1.000 0.722 0.660 0.699 0.714 . 5.080 5.080 4.888 1.026 0.599 1.000 0.999 0.999 69 Thrombospondin,_C-terminal . . . THBS3 136 0 200 46 0.186991869918699 TRUE TRUE +ENSG00000173080.6 . BCM GRCh38.p13 chr1 155941993 155941993 + C C T Missense_Mutation SNP ENST00000368318.5 exon1 c.C284T p.P95L exonic ENSG00000173080.6 . nonsynonymous SNV ENSG00000173080.6:ENST00000368318.5:exon1:c.C284T:p.P95L 1q22 C3N-00495 . . . . . . . . . 18.20 D D D D D D H T D 0.920 D D D 0.748 0.879 0.974 0.813 D T D D D D 3.629 25.100 0.998 D D 0.728 7.533 0.602 6.244 1.000 0.421 0.289 0.537 0.735 . 4.540 3.600 5.843 1.026 0.599 1.000 0.997 0.994 103 GPCR,_rhodopsin-like,_7TM . . ID=COSV100562586;OCCURENCE=1(skin) RXFP4 157 0 228 54 0.191489361702128 TRUE TRUE +ENSG00000163534.15 . BCM GRCh38.p13 chr1 157802188 157802188 + C C A Missense_Mutation SNP ENST00000368176.8 exon5 c.G613T p.V205L exonic ENSG00000163534.15 . nonsynonymous SNV ENSG00000163534.15:ENST00000368176.8:exon5:c.G613T:p.V205L 1q23.1 C3N-00495 . . . . . . . . . 10.20 D D D P D D M T D 0.470 T T T 0.240 0.719 0.497 0.358 T T T T D D 3.073 23.600 0.996 D N 0.475 4.850 0.396 4.332 0.592 0.516 0.610 0.574 0.564 . 4.860 4.860 3.974 1.026 0.599 1.000 0.534 0.017 814 . . . . FCRL1 109 0 105 35 0.25 TRUE TRUE +ENSG00000179914.5 . BCM GRCh38.p13 chr1 160882135 160882135 + C C - Frame_Shift_Del DEL ENST00000326245.4 exon4 c.227delG p.G76Vfs*92 exonic ENSG00000179914.5 . frameshift deletion ENSG00000179914.5:ENST00000326245.4:exon4:c.227delG:p.G76Vfs*92 1q23.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITLN1 106 0 105 26 0.198473282442748 NA TRUE +ENSG00000162714.12 . BCM GRCh38.p13 chr1 247300989 247300989 + C C - Frame_Shift_Del DEL ENST00000294753.8 exon9 c.1294delG p.E432Rfs*23 exonic ENSG00000162714.12 . frameshift deletion ENSG00000162714.12:ENST00000294753.8:exon9:c.1294delG:p.E432Rfs*23 1q44 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF496 181 0 164 45 0.215311004784689 TRUE TRUE +ENSG00000114993.17 . BCM GRCh38.p13 chr2 74430636 74430636 + C C T Missense_Mutation SNP ENST00000272430.10 exon3 c.G353A p.R118H exonic ENSG00000114993.17 . nonsynonymous SNV ENSG00000114993.17:ENST00000272430.10:exon3:c.G353A:p.R118H 2p13.1 C3N-00495 . . . . . . . . rs766056590 6.20 T D D D N N L T D 0.375 T T T 0.120 0.398 0.789 0.750 T T T T D D 2.808 23.000 0.999 N N 0.275 3.654 0.230 3.331 1.000 0.672 0.634 0.702 0.636 . 4.810 4.810 0.978 0.129 -0.190 0.362 0.868 0.551 521 Anillin_homology_domain . . ID=COSV51961066;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) RTKN 117 0 141 84 0.373333333333333 TRUE TRUE +ENSG00000115423.19 . BCM GRCh38.p13 chr2 84553000 84553000 + C C A Nonsense_Mutation SNP ENST00000389394.8 exon10 c.C1568A p.S523X exonic ENSG00000115423.19 . stopgain ENSG00000115423.19:ENST00000389394.8:exon10:c.C1568A:p.S523X 2p11.2 C3N-00495 . . . . . . . . . 4.6 . . . . N A . . . 0.350 . . . . . . . . . D D . . 5.601 34 0.995 D N 0.534 5.315 0.303 3.737 0.000 0.516 0.610 0.574 0.613 . 5.310 4.380 3.021 1.015 0.599 0.235 0.166 0.622 844 . . . . DNAH6 93 0 47 4 0.0784313725490196 TRUE TRUE +ENSG00000068654.16 . BCM GRCh38.p13 chr2 86028669 86028669 + T T C Missense_Mutation SNP ENST00000263857.11 exon32 c.A4822G p.I1608V exonic ENSG00000068654.16 . nonsynonymous SNV ENSG00000068654.16:ENST00000263857.11:exon32:c.A4822G:p.I1608V 2p11.2 C3N-00495 . . . . . . . . . 1.20 T T B B N N N T N 0.280 T T T 0.194 0.534 0.466 0.220 T T T T T T 1.580 16.250 0.979 D N -0.537 1.105 -0.376 1.417 1.000 0.731 0.702 0.702 0.649 . 5.530 4.350 3.239 1.138 0.665 1.000 0.958 0.510 740 RNA_polymerase_Rpb1,_domain_5 . . . POLR1A 255 0 380 69 0.153674832962138 TRUE NA +ENSG00000080345.18 . BCM GRCh38.p13 chr2 151465856 151465856 + A A C Missense_Mutation SNP ENST00000444746.7 exon30 c.A6336C p.E2112D exonic ENSG00000080345.18 . nonsynonymous SNV ENSG00000080345.18:ENST00000444746.7:exon30:c.A6336C:p.E2112D 2q23.3 C3N-00495 . . . . . . . . . 1.20 T T B B N N L T N 0.145 T T T 0.030 0.244 0.230 0.042 T T T T T T 1.547 16.030 0.969 D N -0.603 0.982 -0.512 1.182 0.725 0.707 0.725 0.702 0.714 . 5.680 4.510 3.122 1.312 0.756 0.941 0.911 0.636 805 . . . . RIF1 307 0 154 70 0.3125 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146543 10146543 + A A C Missense_Mutation SNP ENST00000256474.3 exon2 c.A370C p.T124P exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.A370C:p.T124P 3p25.3 C3N-00495 . . . . . . . . . 17.19 . D D D D D M D D 0.832 D D D 0.880 0.696 1.000 1.204 T D D D D T 4.051 27.400 0.995 D D 0.566 5.593 0.478 4.965 1.000 0.732 0.686 0.744 0.735 . 5.070 5.070 5.305 1.312 0.756 1.000 0.912 0.769 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . . VHL 393 1 222 113 0.337313432835821 TRUE TRUE +ENSG00000163935.14 . BCM GRCh38.p13 chr3 52921781 52921781 + G G C Missense_Mutation SNP ENST00000394752.8 exon11 c.C1182G p.N394K exonic ENSG00000163935.14 . nonsynonymous SNV ENSG00000163935.14:ENST00000394752.8:exon11:c.C1182G:p.N394K 3p21.1 C3N-00495 . . . . . . . . . 13.20 D D D D D D M T D 0.796 T T D 0.377 0.666 0.329 0.994 T T T T D D 3.170 23.800 0.997 D D 0.322 3.896 0.217 3.267 0.875 0.706 0.654 0.710 0.620 . 5.430 2.490 3.239 0.230 -0.106 1.000 0.848 0.373 143 . . . . SFMBT1 292 0 184 63 0.255060728744939 TRUE TRUE +ENSG00000163833.8 . BCM GRCh38.p13 chr3 121622344 121622344 + G G T Missense_Mutation SNP ENST00000338040.6 exon3 c.G915T p.K305N exonic ENSG00000163833.8 . nonsynonymous SNV ENSG00000163833.8:ENST00000338040.6:exon3:c.G915T:p.K305N 3q13.33 C3N-00495 . . . . . . . . . 1.20 T T B B N N M T N 0.123 T T T 0.036 0.321 0.448 0.116 T T T T T T 1.651 16.700 0.969 N N -0.618 0.955 -0.504 1.196 0.081 0.497 0.590 0.547 0.542 . 5.730 0.129 -0.029 -0.476 -0.106 0.812 0.993 0.995 355 . . . ID=COSV57523601;OCCURENCE=1(large_intestine) FBXO40 263 0 231 64 0.216949152542373 TRUE TRUE +ENSG00000145113.22 . BCM GRCh38.p13 chr3 195763502 195763502 + G G - Frame_Shift_Del DEL ENST00000463781.8 exon12 c.14184delC p.S4729Qfs*43 exonic ENSG00000145113.22 . frameshift deletion ENSG00000145113.22:ENST00000463781.8:exon12:c.14184delC:p.S4729Qfs*43 3q29 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC4 56 0 81 12 0.129032258064516 TRUE TRUE +ENSG00000128045.7 . BCM GRCh38.p13 chr4 52864481 52864481 + A A T Missense_Mutation SNP ENST00000248706.5 exon3 c.A203T p.N68I exonic ENSG00000128045.7 . nonsynonymous SNV ENSG00000128045.7:ENST00000248706.5:exon3:c.A203T:p.N68I 4q12 C3N-00495 . . . . . . . . . 15.20 T T D D D D L T D 0.851 D D D 0.738 0.700 0.784 0.758 T D D D D D 3.412 24.400 0.990 D D 0.597 5.893 0.645 6.830 1.000 0.722 0.588 0.699 0.414 . 5.700 5.700 6.751 1.312 0.756 1.000 1.000 0.995 320 Small_GTP-binding_protein_domain . . . RASL11B 175 0 61 11 0.152777777777778 TRUE TRUE +ENSG00000250821.2 . BCM GRCh38.p13 chr4 55837155 55837155 + A A T Missense_Mutation SNP ENST00000636125.1 exon3 c.A323T p.Y108F exonic ENSG00000250821.2 . nonsynonymous SNV ENSG00000250821.2:ENST00000636125.1:exon3:c.A323T:p.Y108F 4q12 C3N-00495 . . . . . . . . . 1.2 . . . . . . . . . . . . . . . . . . . . . . T 3.875 26.200 0.892 D . . . . . 1.000 0.066 0.063 0.063 0.075 0.954 5.570 5.570 8.166 1.312 0.756 1.000 1.000 1.000 919 Exocyst_complex_component_Sec3,_PIP2-binding_N-terminal_domain . . . EXOC1L 130 0 28 8 0.222222222222222 TRUE TRUE +ENSG00000185873.8 . BCM GRCh38.p13 chr4 68229308 68229308 + A A G Missense_Mutation SNP ENST00000332644.6 exon8 c.T895C p.S299P exonic ENSG00000185873.8 . nonsynonymous SNV ENSG00000185873.8:ENST00000332644.6:exon8:c.T895C:p.S299P 4q13.2 C3N-00495 . . . . . . . . . 2.20 T T B B N N N D N 0.101 T T D 0.202 0.429 0.085 0.230 T T T T T T 0.101 2.103 0.957 N N -1.508 0.079 -1.427 0.138 0.000 0.487 0.574 0.574 0.564 . 4.780 0.732 0.292 -0.133 -0.078 0.004 0.005 0.221 798 Serine_proteases,_trypsin_domain . . . TMPRSS11B 121 0 37 7 0.159090909090909 TRUE TRUE +ENSG00000182168.15 . BCM GRCh38.p13 chr4 95206746 95206746 + C C T Missense_Mutation SNP ENST00000453304.6 exon11 c.G1784A p.G595E exonic ENSG00000182168.15 . nonsynonymous SNV ENSG00000182168.15:ENST00000453304.6:exon11:c.G1784A:p.G595E 4q22.3 C3N-00495 . . . . . . . . . 18.20 D D D D D D M T D 0.958 D D D 0.796 0.956 0.871 0.966 D T D D D D 3.899 26.300 0.998 D D 0.934 11.972 0.870 12.514 1.000 0.516 0.574 0.574 0.586 . 5.280 5.280 7.905 1.026 0.599 1.000 1.000 0.996 482 ZU5_domain . . . UNC5C 147 0 167 35 0.173267326732673 TRUE TRUE +ENSG00000196800.6 . BCM GRCh38.p13 chr5 148170959 148170959 + C C T Missense_Mutation SNP ENST00000356972.1 exon2 c.C97T p.R33C exonic ENSG00000196800.6 . nonsynonymous SNV ENSG00000196800.6:ENST00000356972.1:exon2:c.C97T:p.R33C 5q32 C3N-00495 4.975e-05 0.0004 0 0 0 3.013e-05 0 0 rs375216023 5.19 D D B B N N . D D 0.189 T T D 0.242 . 0.390 0.620 T T T T T T 0.966 11.190 0.934 N N -0.669 0.866 -0.711 0.884 0.000 0.487 0.574 0.574 0.564 . 3.390 0.544 -0.352 0.068 -0.266 0.345 0.987 0.294 889 . . . . SPINK14 164 0 92 16 0.148148148148148 TRUE NA +ENSG00000146281.6 . BCM GRCh38.p13 chr6 89162205 89162205 + T T C Missense_Mutation SNP ENST00000275072.5 exon7 c.T1253C p.I418T exonic ENSG00000146281.6 . nonsynonymous SNV ENSG00000146281.6:ENST00000275072.5:exon7:c.T1253C:p.I418T 6q15 C3N-00495 . . . . . . . . . 7.20 D D P P N N M T D 0.369 T T D 0.255 0.753 0.694 0.183 T T T T D T 3.388 24.400 0.997 D N 0.340 3.990 0.315 3.805 1.000 0.732 0.744 0.659 0.684 . 5.700 5.700 5.545 1.138 0.665 1.000 0.682 0.973 904 . . . . PM20D2 192 0 142 29 0.169590643274854 TRUE TRUE +ENSG00000130363.12 . BCM GRCh38.p13 chr6 158986367 158986367 + C C G Missense_Mutation SNP ENST00000252655.1 exon3 c.G685C p.A229P exonic ENSG00000130363.12 . nonsynonymous SNV ENSG00000130363.12:ENST00000252655.1:exon3:c.G685C:p.A229P 6q25.3 C3N-00495 . . . . . . . . . 9.20 T T D D N D M T D 0.455 T T T 0.259 0.556 0.308 1.119 T T T T D D 2.531 22.500 0.997 D D 0.312 3.839 0.180 3.088 0.014 0.615 0.588 0.659 0.568 . 5.640 3.860 0.627 1.026 0.599 0.812 0.999 0.991 835 . . . . RSPH3 175 0 211 32 0.131687242798354 TRUE TRUE +ENSG00000158321.18 . BCM GRCh38.p13 chr7 69899449 69899449 + T T C Missense_Mutation SNP ENST00000342771.10 exon2 c.T473C p.L158P exonic ENSG00000158321.18 . nonsynonymous SNV ENSG00000158321.18:ENST00000342771.10:exon2:c.T473C:p.L158P 7q11.22 C3N-00495 . . . . . . . . . 12.20 D D D D D D L T N 0.913 T T D 0.296 0.325 0.329 1.609 T T D D D T 3.577 25.000 0.999 D D 0.474 4.843 0.548 5.626 1.000 0.722 0.699 0.618 0.621 . 5.650 5.650 5.373 1.138 0.665 1.000 1.000 0.997 755 . . . . AUTS2 316 0 341 239 0.412068965517241 TRUE TRUE +ENSG00000091129.21 . BCM GRCh38.p13 chr7 108160418 108160418 + T T G Missense_Mutation SNP ENST00000379028.8 exon31 c.A3541C p.I1181L exonic ENSG00000091129.21 . nonsynonymous SNV ENSG00000091129.21:ENST00000379028.8:exon31:c.A3541C:p.I1181L 7q31.1 C3N-00495 . . . . . . . . . 13.20 D T B B D D L D N 0.616 D D D 0.214 0.398 0.859 0.751 D T D T D D 3.434 24.500 0.992 D D 0.336 3.969 0.476 4.947 1.000 0.706 0.610 0.653 0.613 . 5.710 5.710 8.017 1.138 0.665 1.000 1.000 0.996 666 . . . . NRCAM 181 0 143 87 0.378260869565217 TRUE TRUE +ENSG00000154415.8 . BCM GRCh38.p13 chr7 113918768 113918768 + C C A Missense_Mutation SNP ENST00000284601.4 exon1 c.G229T p.V77F exonic ENSG00000154415.8 . nonsynonymous SNV ENSG00000154415.8:ENST00000284601.4:exon1:c.G229T:p.V77F 7q31.1 C3N-00495 . . . . . . . . . 14.19 D D D P D D M T D 0.821 T T D 0.339 0.560 0.702 0.316 T D D D D D 2.977 23.400 0.996 D . 0.514 5.149 0.476 4.949 0.863 0.487 0.574 0.574 0.564 . 6.170 3.410 2.471 1.026 0.599 1.000 1.000 0.999 766 . . . . PPP1R3A 281 0 133 25 0.158227848101266 TRUE TRUE +ENSG00000128567.17 . BCM GRCh38.p13 chr7 131510239 131510239 + - NA A Frame_Shift_Ins NA ENST00000378555.8 exon3 c.798dupT p.T267Yfs*72 exonic ENSG00000128567.17 . frameshift insertion ENSG00000128567.17:ENST00000378555.8:exon3:c.798dupT:p.T267Yfs*72 7q32.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PODXL NA NA NA NA NA NA NA +ENSG00000122779.18 . BCM GRCh38.p13 chr7 138579382 138579382 + C C G Missense_Mutation SNP ENST00000343526.9 exon15 c.C2435G p.P812R exonic ENSG00000122779.18 . nonsynonymous SNV ENSG00000122779.18:ENST00000343526.9:exon15:c.C2435G:p.P812R 7q34 C3N-00495 . . . . . . . . . 5.20 D T D P N D L T N 0.661 T T D 0.172 0.214 0.598 0.671 T T T T T T 2.587 22.600 0.998 D N 0.067 2.758 0.102 2.742 0.908 0.707 0.725 0.702 0.714 . 5.770 4.890 3.599 1.026 0.599 0.696 0.968 0.981 895 . . . . TRIM24 251 0 135 110 0.448979591836735 TRUE TRUE +ENSG00000156011.17 . BCM GRCh38.p13 chr8 18655642 18655642 + A A G Missense_Mutation SNP ENST00000440756.4 exon10 c.T2219C p.V740A exonic ENSG00000156011.17 . nonsynonymous SNV ENSG00000156011.17:ENST00000440756.4:exon10:c.T2219C:p.V740A 8p22 C3N-00495 . . . . . . . . . 4.20 T T B B U D L T D 0.456 T T T 0.047 0.226 0.117 0.021 T T T T D T 2.474 22.300 0.980 D N -0.276 1.673 -0.110 2.020 0.912 0.638 0.574 0.618 0.668 . 5.520 3.020 2.898 1.301 0.743 1.000 1.000 0.997 931 . . . . PSD3 264 0 95 47 0.330985915492958 TRUE TRUE +ENSG00000158941.16 . BCM GRCh38.p13 chr8 22618683 22618683 + C C T Missense_Mutation SNP ENST00000308511.8 exon18 c.C2287T p.R763C exonic ENSG00000158941.16 . nonsynonymous SNV ENSG00000158941.16:ENST00000308511.8:exon18:c.C2287T:p.R763C 8p21.3 C3N-00495 . . . . . . . . . 11.20 T D D D D D L T N 0.699 T T D 0.158 0.371 0.465 0.667 T T T D D D 3.732 25.500 0.999 D D 0.553 5.477 0.548 5.627 1.000 0.719 0.702 0.702 0.734 . 5.970 5.970 3.562 1.026 0.599 1.000 0.609 0.624 901 . . . . CCAR2 239 0 261 48 0.155339805825243 TRUE NA +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112319924 112319924 + G G A Missense_Mutation SNP ENST00000297405.10 exon46 c.C7223T p.T2408M exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon46:c.C7223T:p.T2408M 8q23.3 C3N-00495 5.774e-05 0 0 0.0002 0 5.996e-05 0 6.056e-05 rs370458785 1.20 T T B B N N L T N 0.288 T T T 0.071 . 0.068 0.480 T T T T T T 2.093 19.960 0.971 D N -0.290 1.637 -0.165 1.873 0.014 0.487 0.574 0.574 0.564 . 5.070 4.200 3.371 -0.127 -0.176 1.000 0.872 0.756 864 Sushi/SCR/CCP_domain . . ID=COSV52115790;OCCURENCE=2(large_intestine) CSMD3 390 0 212 37 0.14859437751004 TRUE TRUE +ENSG00000179698.14 . BCM GRCh38.p13 chr8 144111903 144111903 + G G - Frame_Shift_Del DEL ENST00000323662.9 exon13 c.2654delG p.S887Pfs*86 exonic ENSG00000179698.14 . frameshift deletion ENSG00000179698.14:ENST00000323662.9:exon13:c.2654delG:p.S887Pfs*86 8q24.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR97 194 0 216 63 0.225806451612903 TRUE TRUE +ENSG00000221829.10 . BCM GRCh38.p13 chr9 35078660 35078660 + C C A Missense_Mutation SNP ENST00000378643.8 exon3 c.G252T p.L84F exonic ENSG00000221829.10 . nonsynonymous SNV ENSG00000221829.10:ENST00000378643.8:exon3:c.G252T:p.L84F 9p13.3 C3N-00495 . . . . . . . . . 7.19 D D D P . N M T D 0.330 T T D 0.199 0.283 0.892 0.754 T T T T D T 1.710 17.090 0.997 N N -0.215 1.834 -0.363 1.439 1.000 0.543 0.686 0.686 0.639 . 5.040 1.060 0.076 -0.214 -0.242 0.012 0.802 0.970 93 . . . . FANCG 423 0 542 131 0.194650817236256 TRUE TRUE +ENSG00000066697.14 . BCM GRCh38.p13 chr9 100450578 100450578 + G G C Missense_Mutation SNP ENST00000613183.1 exon3 c.G440C p.R147T exonic ENSG00000066697.14 . nonsynonymous SNV ENSG00000066697.14:ENST00000613183.1:exon3:c.G440C:p.R147T 9q31.1 C3N-00495 . . . . . . . . . 7.17 D D B B . D L . N 0.438 T T T 0.128 0.257 0.118 0.695 . T D D T T 3.058 23.500 0.955 D D -0.186 1.917 0.051 2.540 1.000 0.732 0.725 0.744 0.711 . 5.550 4.650 3.824 1.172 0.614 1.000 1.000 1.000 312 . . . . MSANTD3 79 0 40 11 0.215686274509804 TRUE TRUE +ENSG00000070159.14 . BCM GRCh38.p13 chr9 109426972 109426972 + T T C Missense_Mutation SNP ENST00000374541.4 exon12 c.A979G p.M327V exonic ENSG00000070159.14 . nonsynonymous SNV ENSG00000070159.14:ENST00000374541.4:exon12:c.A979G:p.M327V 9q31.3 C3N-00495 8.256e-06 0 8.642e-05 0 0 0 0 0 rs759874495 4.20 D T B B N N N D N 0.330 T T T 0.167 0.383 0.674 0.234 T T T T T D 2.113 20.200 0.930 D N -0.483 1.210 -0.308 1.547 1.000 0.615 0.624 0.659 0.542 . 5.760 2.340 1.057 -0.751 0.665 0.797 0.992 1.000 863 . . . . PTPN3 140 0 64 26 0.288888888888889 TRUE NA +ENSG00000160447.7 . BCM GRCh38.p13 chr9 128705330 128705330 + G G T Missense_Mutation SNP ENST00000291906.5 exon2 c.G52T p.D18Y exonic ENSG00000160447.7 . nonsynonymous SNV ENSG00000160447.7:ENST00000291906.5:exon2:c.G52T:p.D18Y 9q34.11 C3N-00495 . . . . . . . . . 10.19 D D D D . D L T D 0.436 T T D 0.150 0.346 0.367 1.034 T T T T D T 3.915 26.400 0.994 D D 0.577 5.699 0.574 5.916 1.000 0.707 0.634 0.723 0.714 . 5.180 5.180 6.548 1.176 0.676 1.000 0.914 0.732 0 Serine/threonine-protein_kinase_N,_first_HR1_domain;HR1_rho-binding_domain . . . PKN3 92 1 107 28 0.207407407407407 TRUE TRUE +ENSG00000123243.15 . BCM GRCh38.p13 chr10 7637314 7637314 + A A T Missense_Mutation SNP ENST00000397146.7 exon5 c.T566A p.V189E exonic ENSG00000123243.15 . nonsynonymous SNV ENSG00000123243.15:ENST00000397146.7:exon5:c.T566A:p.V189E 10p14 C3N-00495 . . . . . . . . . 11.19 D D D D D D . T D 0.836 T T D 0.382 0.716 0.392 . T T T T D T 2.938 23.300 0.987 D D 0.210 3.347 0.135 2.885 0.999 0.521 0.590 0.719 0.564 . 5.880 4.750 6.987 0.320 -0.054 1.000 0.005 0.001 964 . . . ID=COSV56903999;OCCURENCE=2(urinary_tract) ITIH5 301 0 366 90 0.197368421052632 TRUE TRUE +ENSG00000123240.17 . BCM GRCh38.p13 chr10 13119027 13119027 + G G A Missense_Mutation SNP ENST00000378747.8 exon7 c.G766A p.E256K exonic ENSG00000123240.17 . nonsynonymous SNV ENSG00000123240.17:ENST00000378747.8:exon7:c.G766A:p.E256K 10p13 C3N-00495 . . . . . . . . . 9.20 D T P B N D L D N 0.406 T D D 0.261 0.271 0.937 0.195 T T T T D D 2.567 22.600 0.997 D D 0.120 2.965 0.228 3.322 0.999 0.732 0.744 0.725 0.714 . 6.160 5.260 5.017 1.176 0.671 1.000 0.979 0.629 952 . . . . OPTN 300 0 204 37 0.153526970954357 TRUE TRUE +ENSG00000151150.22 . BCM GRCh38.p13 chr10 60088328 60088328 + T T G Missense_Mutation SNP ENST00000280772.7 exon29 c.A3359C p.K1120T exonic ENSG00000151150.22 . nonsynonymous SNV ENSG00000151150.22:ENST00000280772.7:exon29:c.A3359C:p.K1120T 10q21.2 C3N-00495 . . . . . . . . . 17.20 D D D D D D M T D 0.795 T T D 0.594 0.359 0.835 1.727 D D D D D D 4.056 27.400 0.998 D D 0.538 5.342 0.622 6.515 1.000 0.706 0.547 0.710 0.668 . 6.170 6.170 7.652 1.130 0.665 1.000 1.000 0.996 740 ZU5_domain . . . ANK3 197 0 175 47 0.211711711711712 TRUE TRUE +ENSG00000166507.19 . BCM GRCh38.p13 chr10 73807650 73807650 + G G A Missense_Mutation SNP ENST00000309979.11 exon3 c.C739T p.P247S exonic ENSG00000166507.19;ENSG00000272916.5 . nonsynonymous SNV ENSG00000166507.19:ENST00000309979.11:exon3:c.C739T:p.P247S,ENSG00000272916.5:ENST00000603027.5:exon3:c.C739T:p.P247S 10q22.2 C3N-00495 . . . . . . . . . 2.20 T T B B N D N T N 0.036 T T T 0.121 0.139 0.379 0.478 T T T T T T 1.307 14.440 0.875 D N -0.616 0.959 -0.304 1.555 1.000 0.646 0.696 0.609 0.636 . 5.750 4.850 2.253 1.164 0.662 1.000 1.000 0.990 506 Heparan_sulphate-N-deacetylase . . . NDST2 339 1 423 115 0.213754646840149 TRUE TRUE +ENSG00000254772.10 . BCM GRCh38.p13 chr11 62566930 62566930 + G G - Frame_Shift_Del DEL ENST00000329251.5 exon7 c.733delC p.Q245Rfs*93 exonic ENSG00000254772.10 . frameshift deletion ENSG00000254772.10:ENST00000329251.5:exon7:c.733delC:p.Q245Rfs*93 11q12.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EEF1G 371 0 340 100 0.227272727272727 TRUE TRUE +ENSG00000186642.16 . BCM GRCh38.p13 chr11 72584241 72584241 + G G C Missense_Mutation SNP ENST00000334456.10 exon19 c.C1610G p.A537G exonic ENSG00000186642.16 . nonsynonymous SNV ENSG00000186642.16:ENST00000334456.10:exon19:c.C1610G:p.A537G 11q13.4 C3N-00495 . . . . . . . . . 18.20 T D D D D D M T D 0.678 D D D 0.706 0.753 0.460 2.223 D D D D D D 4.685 32 0.998 D D 0.805 8.889 0.785 9.692 1.000 0.615 0.627 0.641 0.655 . 5.210 5.210 9.560 1.176 0.618 1.000 0.983 0.995 394 GAF_domain . . . PDE2A 190 0 259 67 0.205521472392638 TRUE TRUE +ENSG00000150776.18 . BCM GRCh38.p13 chr11 112082712 112082713 + AA AA - Frame_Shift_Del DEL ENST00000280352.13 exon6 c.619_620del p.K208Ifs*18 exonic ENSG00000150776.18 . frameshift deletion ENSG00000150776.18:ENST00000280352.13:exon6:c.619_620del:p.K208Ifs*18 11q23.1 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NKAPD1 298 0 64 26 0.288888888888889 TRUE TRUE +ENSG00000118058.23 . BCM GRCh38.p13 chr11 118505755 118505755 + T T G Missense_Mutation SNP ENST00000389506.10 exon27 c.T9854G p.I3285S exonic ENSG00000118058.23 . nonsynonymous SNV ENSG00000118058.23:ENST00000389506.10:exon27:c.T9854G:p.I3285S 11q23.3 C3N-00495 . . . . . . . . . 17.20 D D D D D D L D N 0.843 D D D 0.782 0.510 0.932 1.391 D T D D D D 4.164 28.300 0.982 D D 0.812 9.029 0.811 10.452 1.000 0.672 0.702 0.702 0.711 . 5.980 5.980 7.647 1.138 0.609 1.000 1.000 0.999 305 . . . . KMT2A 210 0 178 41 0.187214611872146 TRUE TRUE +ENSG00000019144.19 . BCM GRCh38.p13 chr11 118643915 118643915 + C C - Frame_Shift_Del DEL ENST00000600882.6 exon14 c.2993delC p.L999Wfs*37 exonic ENSG00000019144.19 . frameshift deletion ENSG00000019144.19:ENST00000600882.6:exon14:c.2993delC:p.L999Wfs*37 11q23.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHLDB1 59 0 89 19 0.175925925925926 TRUE TRUE +ENSG00000010292.13 . BCM GRCh38.p13 chr12 6531013 6531013 + C C T Nonsense_Mutation SNP ENST00000315579.10 exon31 c.C4057T p.Q1353X exonic ENSG00000010292.13 . stopgain ENSG00000010292.13:ENST00000315579.10:exon31:c.C4057T:p.Q1353X 12p13.31 C3N-00495 . . . . . . . . . 4.6 . . . . N A . . . 0.099 . . . . . . . . . D D . . 7.493 38 0.993 D N 0.174 3.189 -0.052 2.189 1.000 0.707 0.698 0.702 0.714 . 4.890 2.900 0.490 -0.249 -0.214 0.030 0.004 0.014 769 . . . . NCAPD2 263 0 328 52 0.136842105263158 TRUE TRUE +ENSG00000174233.11 . BCM GRCh38.p13 chr12 48768619 48768619 + T T C Missense_Mutation SNP ENST00000307885.4 exon21 c.A3479G p.Y1160C exonic ENSG00000174233.11 . nonsynonymous SNV ENSG00000174233.11:ENST00000307885.4:exon21:c.A3479G:p.Y1160C 12q13.12 C3N-00495 8.24e-06 0 0 0 0 1.499e-05 0 0 rs765207297 20.20 D D D D D D H D D 0.878 D D D 0.888 0.706 0.937 1.405 D D D D D D 4.179 28.500 0.998 D D 0.842 9.662 0.769 9.262 1.000 0.731 0.588 0.750 0.714 . 5.120 5.120 6.211 1.049 0.665 1.000 1.000 1.000 474 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . ADCY6 318 0 386 85 0.180467091295117 TRUE NA +ENSG00000167612.13 . BCM GRCh38.p13 chr12 51888578 51888578 + C C A Nonsense_Mutation SNP ENST00000301190.11 exon2 c.C156A p.C52X exonic ENSG00000167612.13 . stopgain ENSG00000167612.13:ENST00000301190.11:exon2:c.C156A:p.C52X 12q13.13 C3N-00495 . . . . . . . . . 3.6 . . . . N A . . . 0.028 . . . . . . . . . D D . . 4.102 27.800 0.973 N N -0.104 2.164 -0.537 1.142 0.997 0.455 0.547 0.607 0.445 . 4.190 -3.330 -1.230 -0.322 0.599 0.000 0.007 0.200 392 . . . . ANKRD33 26 0 29 11 0.275 TRUE TRUE +ENSG00000123384.14 . BCM GRCh38.p13 chr12 57193220 57193222 + AAT AAT - In_Frame_Del DEL ENST00000243077.8 exon46 c.7600_7602del p.N2534del exonic ENSG00000123384.14 . nonframeshift deletion ENSG00000123384.14:ENST00000243077.8:exon46:c.7600_7602del:p.N2534del 12q13.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP1 198 0 210 55 0.207547169811321 TRUE TRUE +ENSG00000184575.12 . BCM GRCh38.p13 chr12 64430049 64430049 + G G T Nonsense_Mutation SNP ENST00000332707.10 exon17 c.G1738T p.E580X exonic ENSG00000184575.12 . stopgain ENSG00000184575.12:ENST00000332707.10:exon17:c.G1738T:p.E580X 12q14.2 C3N-00495 . . . . . . . . . 6.6 . . . . D A . . . 0.353 . . . . . . . . . D D . . 9.699 51 0.997 D D 1.214 25.045 1.059 23.045 1.000 0.563 0.654 0.609 0.636 . 5.280 5.280 9.542 1.176 0.676 1.000 0.994 0.933 698 . . . . XPOT 58 0 21 5 0.192307692307692 TRUE TRUE +ENSG00000111530.13 . BCM GRCh38.p13 chr12 67305211 67305211 + C C T Missense_Mutation SNP ENST00000545606.6 exon10 c.C1543T p.P515S exonic ENSG00000111530.13 . nonsynonymous SNV ENSG00000111530.13:ENST00000545606.6:exon10:c.C1543T:p.P515S 12q15 C3N-00495 . . . . . . . . . 9.20 D T B B D D L T D 0.193 T T D 0.219 0.455 0.487 0.745 T T T T D D 2.351 21.900 0.990 D D 0.128 2.996 0.261 3.498 1.000 0.707 0.725 0.725 0.714 . 5.420 5.420 4.218 1.026 0.599 1.000 0.993 0.780 925 . . . . CAND1 270 0 111 28 0.201438848920863 TRUE TRUE +ENSG00000111670.16 . BCM GRCh38.p13 chr12 101790014 101790014 + T T A Missense_Mutation SNP ENST00000299314.12 exon3 c.A247T p.N83Y exonic ENSG00000111670.16 . nonsynonymous SNV ENSG00000111670.16:ENST00000299314.12:exon3:c.A247T:p.N83Y 12q23.2 C3N-00495 . . . . . . . . . 19.20 D D D D D D M D D 0.983 D D D 0.930 0.510 0.952 0.860 T D D D D D 4.165 28.300 0.996 D D 0.854 9.938 0.833 11.167 1.000 0.706 0.725 0.725 0.613 . 5.870 5.870 7.597 1.138 0.665 1.000 1.000 0.997 504 Stealth_protein_CR1,_conserved_region_1 . . . GNPTAB 486 0 351 91 0.205882352941176 TRUE TRUE +ENSG00000150907.10 . BCM GRCh38.p13 chr13 40666197 40666197 + G G A Nonsense_Mutation SNP ENST00000379561.6 exon1 c.C16T p.Q6X exonic ENSG00000150907.10 . stopgain ENSG00000150907.10:ENST00000379561.6:exon1:c.C16T:p.Q6X 13q14.11 C3N-00495 . . . . . . . . . 4.6 . . . . N A . . . 0.423 . . . . . . . . . D D . . 7.041 37 0.997 D N 0.705 7.195 0.469 4.886 1.000 0.442 0.522 0.522 0.373 . 3.710 3.710 2.944 1.035 0.541 0.946 1.000 0.632 944 . . . . FOXO1 70 0 84 24 0.222222222222222 TRUE TRUE +ENSG00000197991.11 . BCM GRCh38.p13 chr13 61413486 61413486 + T T G Missense_Mutation SNP ENST00000409204.4 exon2 c.A613C p.N205H exonic ENSG00000197991.11;ENSG00000280165.1 . nonsynonymous SNV ENSG00000280165.1:ENST00000409204.4:exon2:c.A613C:p.N205H,ENSG00000197991.11:ENST00000409186.1:exon5:c.A613C:p.N205H 13q21.2 C3N-00495 . . . . . . . . . 11.18 D D . . D D M T D 0.788 T T D 0.589 0.533 0.656 0.685 T T D T D T 3.290 24.100 0.994 D D 0.511 5.122 0.557 5.722 1.000 0.598 0.563 0.607 0.639 . 5.650 5.650 7.966 1.138 0.663 1.000 1.000 0.968 963 . . . . AL592490.1 247 0 279 61 0.179411764705882 TRUE TRUE +ENSG00000139914.6 . BCM GRCh38.p13 chr14 24132311 24132311 + A A G Missense_Mutation SNP ENST00000267426.5 exon2 c.A367G p.R123G exonic ENSG00000139914.6 . nonsynonymous SNV ENSG00000139914.6:ENST00000267426.5:exon2:c.A367G:p.R123G 14q12 C3N-00495 . . . . . . . . . 9.18 D D P P D D L . D 0.821 T T D 0.280 0.746 0.436 0.793 T T D D D . 3.058 23.500 0.996 N N 0.182 3.223 0.138 2.897 1.000 0.515 0.542 0.604 0.613 . 5.360 2.170 0.161 0.166 0.750 0.504 0.999 0.997 893 . . . ID=COSV52823802;OCCURENCE=2(liver) FITM1 200 0 204 69 0.252747252747253 TRUE TRUE +ENSG00000047346.12 . BCM GRCh38.p13 chr15 52593618 52593618 + A A T Missense_Mutation SNP ENST00000261844.11 exon10 c.T2768A p.F923Y exonic ENSG00000047346.12 . nonsynonymous SNV ENSG00000047346.12:ENST00000261844.11:exon10:c.T2768A:p.F923Y 15q21.2 C3N-00495 . . . . . . . . . 11.20 D T P P D D L T N 0.762 T T D 0.327 0.654 0.261 0.513 D T D D D D 3.624 25.100 0.995 D D 0.649 6.457 0.701 7.775 1.000 0.732 0.744 0.602 0.714 . 5.800 5.800 8.947 1.312 0.756 1.000 1.000 1.000 600 Domain_of_unknown_function_DUF4210 . . . FAM214A 164 0 153 47 0.235 TRUE TRUE +ENSG00000140455.17 . BCM GRCh38.p13 chr15 63570453 63570453 + C C T Missense_Mutation SNP ENST00000380324.8 exon9 c.C782T p.A261V exonic ENSG00000140455.17 . nonsynonymous SNV ENSG00000140455.17:ENST00000380324.8:exon9:c.C782T:p.A261V 15q22.31 C3N-00495 . . . . . . . . . 16.20 D D D D D D M T D 0.968 T T D 0.626 0.844 0.573 1.366 D T D D D D 3.992 26.900 0.999 D D 0.990 13.608 0.946 15.884 1.000 0.732 0.702 0.744 0.714 . 5.950 5.950 7.870 1.018 0.599 1.000 0.999 0.998 513 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP3 254 0 285 58 0.169096209912536 TRUE TRUE +ENSG00000066933.16 . BCM GRCh38.p13 chr15 71897969 71897969 + T T C Missense_Mutation SNP ENST00000356056.10 exon25 c.A4534G p.M1512V exonic ENSG00000066933.16 . nonsynonymous SNV ENSG00000066933.16:ENST00000356056.10:exon25:c.A4534G:p.M1512V 15q23 C3N-00495 . . . . . . . . . 11.19 D T B B . D M D N 0.614 T T D 0.458 0.190 0.359 0.138 T T D D D D 2.580 22.600 0.993 D D 0.056 2.718 0.190 3.136 0.999 0.638 0.654 0.653 0.636 . 5.880 4.760 5.830 0.168 0.665 1.000 0.997 0.997 921 . . . . MYO9A 297 0 87 26 0.230088495575221 TRUE TRUE +ENSG00000205078.6 . BCM GRCh38.p13 chr16 77208537 77208537 + C C T Missense_Mutation SNP ENST00000378644.5 exon4 c.C254T p.S85F exonic ENSG00000205078.6 . nonsynonymous SNV ENSG00000205078.6:ENST00000378644.5:exon4:c.C254T:p.S85F 16q23.1 C3N-00495 . . . . . . . . . 8.20 D D D D U N M T D 0.406 T T T 0.189 0.356 0.196 0.000 T T T T D D 4.000 27.000 0.997 N N 0.435 4.571 0.345 3.988 1.000 0.554 0.588 0.514 0.568 . 3.640 3.640 1.820 0.936 0.587 0.544 0.987 0.948 863 . . . . SYCE1L 144 0 194 22 0.101851851851852 TRUE NA +ENSG00000197417.9 . BCM GRCh38.p13 chr17 3636083 3636083 + G G A Missense_Mutation SNP ENST00000225519.5 exon1 c.C137T p.A46V exonic ENSG00000197417.9;ENSG00000262304.2 . nonsynonymous SNV ENSG00000197417.9:ENST00000225519.5:exon1:c.C137T:p.A46V,ENSG00000262304.2:ENST00000572919.1:exon1:c.C137T:p.A46V 17p13.2 C3N-00495 . . . . . . . . . 0.15 T T . . N N . T N 0.116 T T T 0.040 0.447 0.085 0.255 T . T T T . 0.610 7.606 0.940 N N -1.523 0.074 -1.442 0.131 1.000 0.442 0.522 0.522 0.581 . 4.790 -1.910 0.048 0.134 -0.235 0.023 0.980 0.196 794 . . . . SHPK 204 0 248 70 0.220125786163522 TRUE TRUE +ENSG00000141052.17 . BCM GRCh38.p13 chr17 12758092 12758092 + - NA T Frame_Shift_Ins NA ENST00000343344.8 exon11 c.2067dupT p.L690Ffs*5 exonic ENSG00000141052.17 . frameshift insertion ENSG00000141052.17:ENST00000343344.8:exon11:c.2067dupT:p.L690Ffs*5 17p12 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYOCD NA NA NA NA NA NA NA +ENSG00000007216.15 . BCM GRCh38.p13 chr17 28491595 28491595 + G G T Missense_Mutation SNP ENST00000314669.10 exon5 c.G733T p.V245L exonic ENSG00000007216.15 . nonsynonymous SNV ENSG00000007216.15:ENST00000314669.10:exon5:c.G733T:p.V245L 17q11.2 C3N-00495 . . . . . . . . . 9.20 D D P P D D L T D 0.574 T T T 0.219 0.569 0.171 0.909 T T T T D D 3.553 24.900 0.998 D D 0.475 4.850 0.518 5.327 0.999 0.497 0.547 0.547 0.542 . 5.500 5.500 4.698 1.176 0.618 1.000 1.000 0.957 152 . . . . SLC13A2 97 0 111 36 0.244897959183673 TRUE TRUE +ENSG00000224383.7 . BCM GRCh38.p13 chr17 64001276 64001276 + A A C Missense_Mutation SNP ENST00000412177.5 exon4 c.A436C p.I146L exonic ENSG00000224383.7 . nonsynonymous SNV ENSG00000224383.7:ENST00000412177.5:exon4:c.A436C:p.I146L 17q23.3 C3N-00495 . . . . . . . . . 3.18 D D P P . N M T N 0.351 T T T 0.074 0.147 0.072 . . T T T T T 1.417 15.200 0.933 N N -0.565 1.053 -0.727 0.861 0.991 0.722 0.551 0.577 0.735 . 4.760 1.390 -0.961 0.317 -0.054 0.000 0.025 0.007 775 . . . . PRR29 119 0 167 23 0.121052631578947 TRUE TRUE +ENSG00000079999.14 . BCM GRCh38.p13 chr19 10499933 10499933 + G G A Missense_Mutation SNP ENST00000171111.10 exon2 c.C101T p.A34V exonic ENSG00000079999.14 . nonsynonymous SNV ENSG00000079999.14:ENST00000171111.10:exon2:c.C101T:p.A34V 19p13.2 C3N-00495 . . . . . . . . . 4.19 D T P B N D N T N 0.405 T T T 0.095 0.390 0.749 1.053 T T T T D T 2.641 22.700 0.999 D . -0.064 2.291 0.069 2.612 1.000 0.731 0.696 0.750 0.714 . 4.770 4.770 5.201 1.176 0.676 1.000 0.995 0.966 744 . . . ID=COSV50641580;OCCURENCE=1(liver) KEAP1 58 0 97 22 0.184873949579832 TRUE TRUE +ENSG00000161249.21 . BCM GRCh38.p13 chr19 35513142 35513142 + C C A Nonsense_Mutation SNP ENST00000339686.8 exon1 c.G334T p.E112X exonic ENSG00000161249.21 . stopgain ENSG00000161249.21:ENST00000339686.8:exon1:c.G334T:p.E112X 19q13.12 C3N-00495 . . . . . . . . . 3.6 . . . . N A . . . 0.237 . . . . . . . . . D D . . 5.995 35 0.997 N N 0.567 5.607 0.267 3.528 0.935 0.653 0.590 0.676 0.530 . 4.210 3.080 1.218 0.947 0.549 0.032 0.005 0.002 824 . . . . DMKN 536 2 535 175 0.246478873239437 TRUE TRUE +ENSG00000167615.16 . BCM GRCh38.p13 chr19 54455423 54455423 + A A G Missense_Mutation SNP ENST00000326764.9 exon8 c.A881G p.K294R exonic ENSG00000167615.16 . nonsynonymous SNV ENSG00000167615.16:ENST00000326764.9:exon8:c.A881G:p.K294R 19q13.42 C3N-00495 . . . . . . . . . 11.17 D D . . D D M T N 0.615 T T D 0.201 0.269 0.388 0.977 T . D T D D 4.115 27.900 0.999 D D 0.681 6.856 0.696 7.670 1.000 0.672 0.698 0.702 0.711 . 5.380 5.380 8.589 1.312 0.756 1.000 1.000 0.995 987 . . . ID=COSV58728752;OCCURENCE=1(stomach) LENG8 367 0 445 117 0.208185053380783 TRUE TRUE +ENSG00000149633.12 . BCM GRCh38.p13 chr20 38241665 38241665 + C C A Missense_Mutation SNP ENST00000279024.9 exon3 c.G466T p.D156Y exonic ENSG00000149633.12 . nonsynonymous SNV ENSG00000149633.12:ENST00000279024.9:exon3:c.G466T:p.D156Y 20q11.23 C3N-00495 . . . . . . . . . 7.20 D D D P N N M T D 0.584 T T T 0.126 0.383 0.336 0.264 T T T T D T 3.616 25.100 0.974 D N 0.190 3.260 0.051 2.542 0.463 0.554 0.590 0.574 0.568 . 5.840 3.930 3.328 1.026 0.599 0.992 0.557 0.032 885 . . . . KIAA1755 400 1 470 107 0.185441941074523 TRUE TRUE +ENSG00000099968.18 . BCM GRCh38.p13 chr22 17726789 17726792 + CAGA CAGA - Frame_Shift_Del DEL ENST00000317582.10 exon7 c.713_716del p.P238Rfs*5 exonic ENSG00000099968.18 . frameshift deletion ENSG00000099968.18:ENST00000317582.10:exon7:c.713_716del:p.P238Rfs*5 22q11.21 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCL2L13 279 0 310 42 0.119318181818182 TRUE TRUE +ENSG00000102225.16 . BCM GRCh38.p13 chrX 47224436 47224436 + C C T Missense_Mutation SNP ENST00000357227.9 exon3 c.C254T p.A85V exonic ENSG00000102225.16 . nonsynonymous SNV ENSG00000102225.16:ENST00000357227.9:exon3:c.C254T:p.A85V Xp11.3 C3N-00495 . . . . . . . . . 7.19 T D B B D D L T N 0.291 T T D 0.130 0.081 0.846 0.768 T T T T D D 3.221 23.900 0.998 D . . . . . 1.000 . . . . . 6.060 5.150 4.846 1.009 0.596 1.000 1.000 0.998 541 . . . . CDK16 21 0 18 8 0.307692307692308 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53198771 53198771 + C C - Frame_Shift_Del DEL ENST00000375401.8 exon16 c.2361delG p.K788Sfs*7 exonic ENSG00000126012.12 . frameshift deletion ENSG00000126012.12:ENST00000375401.8:exon16:c.2361delG:p.K788Sfs*7 Xp11.22 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM5C 260 0 200 162 0.447513812154696 TRUE TRUE +ENSG00000161638.11 . BCM GRCh38.p13 chr12 54402000 54402000 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000161638.11 ENST00000293379.9:exon21:c.2226+1G>A . . 12q13.13 C3N-00495 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.601 34 0.996 D . 1.095 17.295 0.932 15.209 1.000 0.257 0.097 0.138 0.376 0.986 5.090 5.090 5.167 1.026 0.549 1.000 0.812 0.692 565 . . . . ITGA5 117 0 159 40 0.201005025125628 TRUE TRUE +ENSG00000179528.16 . BCM GRCh38.p13 chr2 74498023 74498023 + C C G Silent SNP ENST00000377566.9 exon2 c.G501C p.L167L exonic ENSG00000179528.16 . synonymous SNV ENSG00000179528.16:ENST00000377566.9:exon2:c.G501C:p.L167L 2p13.1 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LBX2 150 0 213 35 0.141129032258065 TRUE TRUE +ENSG00000243466.1 . BCM GRCh38.p13 chr2 88947457 88947457 + G G T Silent SNP ENST00000496168.1 exon2 c.C195A p.A65A exonic ENSG00000243466.1 . synonymous SNV ENSG00000243466.1:ENST00000496168.1:exon2:c.C195A:p.A65A 2p11.2 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV1-5 517 0 549 285 0.341726618705036 NA TRUE +ENSG00000144285.21 . BCM GRCh38.p13 chr2 166045205 166045205 + C C A Silent SNP ENST00000303395.8 exon12 c.G1500T p.R500R exonic ENSG00000144285.21 . synonymous SNV ENSG00000144285.21:ENST00000303395.8:exon12:c.G1500T:p.R500R 2q24.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN1A 437 1 330 138 0.294871794871795 TRUE TRUE +ENSG00000145113.22 . BCM GRCh38.p13 chr3 195752397 195752397 + G G C Silent SNP ENST00000463781.8 exon21 c.C15558G p.A5186A exonic ENSG00000145113.22 . synonymous SNV ENSG00000145113.22:ENST00000463781.8:exon21:c.C15558G:p.A5186A 3q29 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC4 202 0 211 38 0.152610441767068 TRUE TRUE +ENSG00000146383.7 . BCM GRCh38.p13 chr6 132571227 132571227 + T T C Silent SNP ENST00000275198.1 exon1 c.T906C p.Y302Y exonic ENSG00000146383.7 . synonymous SNV ENSG00000146383.7:ENST00000275198.1:exon1:c.T906C:p.Y302Y 6q23.2 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAAR6 224 0 55 10 0.153846153846154 TRUE TRUE +ENSG00000065621.15 . BCM GRCh38.p13 chr10 104299239 104299239 + C C T Silent SNP ENST00000338595.7 exon7 c.C687T p.L229L exonic ENSG00000065621.15 . synonymous SNV ENSG00000065621.15:ENST00000338595.7:exon7:c.C687T:p.L229L 10q25.1 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GSTO2 288 0 295 68 0.18732782369146 TRUE TRUE +ENSG00000110717.13 . BCM GRCh38.p13 chr11 68032924 68032924 + G G A Silent SNP ENST00000313468.10 exon4 c.G111A p.K37K exonic ENSG00000110717.13 . synonymous SNV ENSG00000110717.13:ENST00000313468.10:exon4:c.G111A:p.K37K 11q13.2 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDUFS8 283 0 305 73 0.193121693121693 TRUE NA +ENSG00000108947.5 . BCM GRCh38.p13 chr17 7709279 7709279 + G G A Silent SNP ENST00000226091.3 exon5 c.G726A p.V242V exonic ENSG00000108947.5 . synonymous SNV ENSG00000108947.5:ENST00000226091.3:exon5:c.G726A:p.V242V 17p13.1 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFNB3 66 0 85 5 0.0555555555555556 TRUE NA +ENSG00000091536.19 . BCM GRCh38.p13 chr17 18121611 18121611 + A A G Silent SNP ENST00000647165.2 exon2 c.A2811G p.Q937Q exonic ENSG00000091536.19 . synonymous SNV ENSG00000091536.19:ENST00000647165.2:exon2:c.A2811G:p.Q937Q 17p11.2 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO15A 93 0 114 20 0.149253731343284 TRUE NA +ENSG00000160877.6 . BCM GRCh38.p13 chr19 13138226 13138226 + C C G Silent SNP ENST00000292431.5 exon6 c.C1404G p.R468R exonic ENSG00000160877.6 . synonymous SNV ENSG00000160877.6:ENST00000292431.5:exon6:c.C1404G:p.R468R 19p13.13 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NACC1 285 0 333 73 0.179802955665025 TRUE TRUE +ENSG00000186529.16 . BCM GRCh38.p13 chr19 15658738 15658738 + C C G Silent SNP ENST00000221307.13 exon12 c.C1326G p.P442P exonic ENSG00000186529.16 . synonymous SNV ENSG00000186529.16:ENST00000221307.13:exon12:c.C1326G:p.P442P 19p13.12 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP4F3 145 0 115 33 0.222972972972973 NA TRUE +ENSG00000105650.22 . BCM GRCh38.p13 chr19 18222133 18222133 + G G A Silent SNP ENST00000594617.7 exon3 c.C433T p.L145L exonic ENSG00000105650.22;ENSG00000285188.1 . synonymous SNV ENSG00000105650.22:ENST00000594617.7:exon3:c.C433T:p.L145L,ENSG00000285188.1:ENST00000355502.7:exon6:c.C433T:p.L145L 19p13.11 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE4C 71 0 86 17 0.16504854368932 TRUE TRUE +ENSG00000105443.15 . BCM GRCh38.p13 chr19 48474010 48474010 + G G A Silent SNP ENST00000641098.1 exon6 c.G540A p.Q180Q exonic ENSG00000105443.15 . synonymous SNV ENSG00000105443.15:ENST00000641098.1:exon6:c.G540A:p.Q180Q 19q13.33 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYTH2 52 0 68 22 0.244444444444444 TRUE NA +ENSG00000171552.13 . BCM GRCh38.p13 chr20 31721919 31721919 + C C A Silent SNP ENST00000307677.5 exon2 c.G300T p.R100R exonic ENSG00000171552.13 . synonymous SNV ENSG00000171552.13:ENST00000307677.5:exon2:c.G300T:p.R100R 20q11.21 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCL2L1 344 0 431 110 0.203327171903882 TRUE TRUE +ENSG00000183067.5 . BCM GRCh38.p13 chr21 39801354 39801354 + A A G Silent SNP ENST00000380588.4 exon9 c.A1221G p.V407V exonic ENSG00000183067.5 . synonymous SNV ENSG00000183067.5:ENST00000380588.4:exon9:c.A1221G:p.V407V 21q22.2 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF5 145 0 149 37 0.198924731182796 TRUE TRUE +ENSG00000231424.3 . BCM GRCh38.p13 chr1 171064188 171064188 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000231424.3 . . . 1q24.3 C3N-00495 . . . . . . . . rs1052664643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BX284613.2 203 0 55 5 0.0833333333333333 TRUE NA +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167258425 167258425 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000163092.21 ENST00000628543.2:c.*608A>T . . 2q24.3 C3N-00495 . . . . . . . . . 1.5 . . . . . D . . . 0.108 . . . . . . . . . T T . . 0.545 6.971 0.989 N N -0.382 1.422 -0.479 1.237 0.317 0.554 0.574 0.547 0.621 . 5.960 3.570 0.667 1.312 0.756 0.001 0.478 0.022 562 . . . . XIRP2 273 0 82 18 0.18 TRUE NA +ENSG00000165238.16 . BCM GRCh38.p13 chr9 93317684 93317691 + GTACAGAG GTACAGAG - Intron DEL NA NA NA NA intronic ENSG00000165238.16 . . . 9q22.31 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WNK2 166 0 179 50 0.218340611353712 TRUE TRUE +ENSG00000067082.15 . BCM GRCh38.p13 chr10 3779399 3779399 + A A G 3'UTR SNP NA NA NA NA UTR3 ENSG00000067082.15 ENST00000497571.6:c.*140T>C . . 10p15.2 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLF6 182 0 207 63 0.233333333333333 TRUE NA +ENSG00000240291.1 . BCM GRCh38.p13 chr10 18515012 18515013 + AA AA - RNA DEL NA NA NA NA ncRNA_intronic ENSG00000240291.1 . . . 10p12.31 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL450384.2 494 0 241 78 0.244514106583072 TRUE TRUE +ENSG00000155229.21 . BCM GRCh38.p13 chr10 97480320 97480320 + C C A Intron SNP NA NA NA NA intronic ENSG00000155229.21 . . . 10q24.1 C3N-00495 . . . . . . . . . 1.12 D . . . . N . T N . T T . 0.012 0.324 0.165 . . . T T T T 0.296 4.241 0.943 N N -0.674 0.856 -0.839 0.703 1.000 0.394 0.546 0.687 0.492 . 0.137 0.137 0.262 0.306 0.270 0.290 0.638 0.351 374 MMS19,_N-terminal . . . MMS19 174 1 150 35 0.189189189189189 NA TRUE +ENSG00000170145.5 . BCM GRCh38.p13 chr11 111726989 111726989 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000170145.5 ENST00000304987.4:c.*2860C>A . . 11q23.1 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIK2 169 0 143 29 0.168604651162791 TRUE TRUE +ENSG00000212694.8 . BCM GRCh38.p13 chr12 121797506 121797506 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000212694.8 . . . 12q24.31 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01089 292 1 383 94 0.19706498951782 TRUE NA +ENSG00000285774.2 . BCM GRCh38.p13 chr14 54687363 54687363 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000285774.2 . . . 14q22.2 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL133444.1 180 0 179 32 0.151658767772512 TRUE NA +ENSG00000177051.6 . BCM GRCh38.p13 chr19 45711637 45711637 + G G T 3'UTR SNP NA NA NA NA UTR3 ENSG00000177051.6 ENST00000317683.4:c.*47C>A . . 19q13.32 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXO46 144 0 190 46 0.194915254237288 TRUE NA +ENSG00000143569.19 . BCM GRCh38.p13 chr1 154251148 154251149 + GC GC CT Unknown MNP ENST00000428931.6 exon13 c.1321_1322delinsCT p.A441L exonic ENSG00000143569.19 . nonframeshift substitution ENSG00000143569.19:ENST00000428931.6:exon13:c.1321_1322delinsCT:p.A441L 1q21.3 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBAP2L 325 1 340 77 0.184652278177458 TRUE TRUE +ENSG00000182070.5 . BCM GRCh38.p13 chr11 5152262 5152263 + AA AA TT Unknown MNP ENST00000380367.2 exon2 c.107_108delinsAA p.I36K exonic ENSG00000182070.5 . nonframeshift substitution ENSG00000182070.5:ENST00000380367.2:exon2:c.107_108delinsAA:p.I36K 11p15.4 C3N-00495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR52A1 124 0 80 13 0.139784946236559 TRUE TRUE +ENSG00000162585.17 . BCM GRCh38.p13 chr1 2193640 2193640 + T T C Missense_Mutation SNP ENST00000378546.9 exon3 c.A469G p.R157G exonic ENSG00000162585.17 . nonsynonymous SNV ENSG00000162585.17:ENST00000378546.9:exon3:c.A469G:p.R157G 1p36.33 C3N-00573 . . . . . . . . . 2.19 D D B B N N N T N 0.135 T T T 0.028 0.239 0.139 0.336 . T T T T T 0.379 5.191 0.985 N N -1.030 0.373 -1.333 0.188 1.000 0.726 0.663 0.594 0.632 . 4.050 -7.670 -1.555 -0.999 -0.881 0.000 0.001 0.001 928 FAAP20_ubiquitin-binding_zinc-finger . . . FAAP20 98 0 84 12 0.125 NA TRUE +ENSG00000180758.12 . BCM GRCh38.p13 chr1 9111451 9111451 + G G T Missense_Mutation SNP ENST00000377411.5 exon2 c.C422A p.A141D exonic ENSG00000180758.12 . nonsynonymous SNV ENSG00000180758.12:ENST00000377411.5:exon2:c.C422A:p.A141D 1p36.22 C3N-00573 . . . . . . . . . 4.20 D D B B N N L T D 0.790 T T D 0.151 0.544 0.417 0.258 T T T T T T 1.114 12.910 0.961 N N -0.476 1.224 -0.604 1.041 0.999 0.657 0.659 0.602 0.700 . 5.220 2.300 0.423 1.172 0.614 0.000 0.072 0.099 850 GPCR,_family_2-like;GPCR,_rhodopsin-like,_7TM . . . GPR157 154 0 135 38 0.219653179190751 TRUE TRUE +ENSG00000117385.16 . BCM GRCh38.p13 chr1 42762415 42762415 + G G A Missense_Mutation SNP ENST00000296388.10 exon2 c.C526T p.H176Y exonic ENSG00000117385.16 . nonsynonymous SNV ENSG00000117385.16:ENST00000296388.10:exon2:c.C526T:p.H176Y 1p34.2 C3N-00573 . . . . . . . . . 16.20 D D D D D D M T D 0.868 T T D 0.671 0.576 0.743 0.769 T D D D D D 4.014 27.100 0.998 D D 0.937 12.057 0.915 14.394 1.000 0.719 0.723 0.688 0.734 . 5.730 5.730 9.540 1.176 0.676 1.000 1.000 0.991 507 . . . . P3H1 296 0 247 82 0.249240121580547 TRUE NA +ENSG00000116783.15 . BCM GRCh38.p13 chr1 74353271 74353271 + G G T Missense_Mutation SNP ENST00000326637.8 exon10 c.G938T p.C313F exonic ENSG00000116783.15;ENSG00000259030.7 . nonsynonymous SNV ENSG00000116783.15:ENST00000326637.8:exon10:c.G938T:p.C313F,ENSG00000259030.7:ENST00000557284.6:exon12:c.G1280T:p.C427F 1p31.1 C3N-00573 . . . . . . . . rs745838057 16.19 D D D D D D H T D 0.917 D T D 0.707 0.811 0.833 0.126 . T D D D D 4.191 28.600 0.990 D D 0.868 10.250 0.801 10.142 1.000 0.554 0.588 0.574 0.564 . 4.660 4.660 9.005 1.176 0.676 1.000 1.000 0.952 905 Ankyrin_repeat-containing_domain . . . TNNI3K 103 2 65 17 0.207317073170732 TRUE TRUE +ENSG00000081026.19 . BCM GRCh38.p13 chr1 113683514 113683514 + A A G Missense_Mutation SNP ENST00000307546.14 exon21 c.A3946G p.I1316V exonic ENSG00000081026.19 . nonsynonymous SNV ENSG00000081026.19:ENST00000307546.14:exon21:c.A3946G:p.I1316V 1p13.2 C3N-00573 . . . . . . . . . 0.16 T T . . N N . T N 0.020 T T T 0.029 0.064 0.123 0.130 T . T T T T 0.390 5.317 0.566 N N -1.257 0.190 -1.266 0.232 1.000 0.563 0.588 0.609 0.679 . 4.010 -0.405 0.429 -0.417 -0.095 0.000 0.004 0.221 519 . . . . MAGI3 196 0 123 43 0.259036144578313 TRUE TRUE +ENSG00000168118.12 . BCM GRCh38.p13 chr1 229302889 229302889 + C C T Missense_Mutation SNP ENST00000366690.5 exon7 c.C569T p.S190L exonic ENSG00000168118.12 . nonsynonymous SNV ENSG00000168118.12:ENST00000366690.5:exon7:c.C569T:p.S190L 1q42.13 C3N-00573 . . . . . . . . . 12.18 T T . . D D M T D 0.707 T T D 0.389 . 0.790 1.129 D T D D D D 4.043 27.300 0.999 D D 0.292 3.738 0.447 4.712 1.000 0.707 0.725 0.725 0.714 . 5.740 5.740 7.591 1.026 0.599 1.000 0.957 0.991 929 . . . . RAB4A 215 0 166 35 0.174129353233831 TRUE NA +ENSG00000169432.18 . BCM GRCh38.p13 chr2 166204068 166204068 + A A C Missense_Mutation SNP ENST00000642356.2 exon26 c.T4661G p.F1554C exonic ENSG00000169432.18 . nonsynonymous SNV ENSG00000169432.18:ENST00000642356.2:exon26:c.T4661G:p.F1554C 2q24.3 C3N-00573 . . . . . . . . . 18.18 D D . . D D M D D 0.959 D D D 0.947 0.714 0.874 0.670 D D D D D D 4.182 28.500 0.989 D D 0.719 7.394 0.573 5.906 1.000 0.554 0.574 0.574 0.621 . 4.470 4.470 9.285 1.288 0.756 1.000 0.885 0.722 340 Ion_transport_domain . . . SCN9A 131 0 33 12 0.266666666666667 TRUE TRUE +ENSG00000154479.13 . BCM GRCh38.p13 chr2 169681126 169681126 + G G T Missense_Mutation SNP ENST00000447353.6 exon2 c.C175A p.Q59K exonic ENSG00000154479.13 . nonsynonymous SNV ENSG00000154479.13:ENST00000447353.6:exon2:c.C175A:p.Q59K 2q31.1 C3N-00573 . . . . . . . . . 4.20 T T B B U N L D N 0.165 T D D 0.156 0.376 0.474 0.070 T T T T T T 1.644 16.660 0.948 D N -0.297 1.621 -0.158 1.889 0.021 0.615 0.574 0.659 0.530 . 5.790 2.930 1.966 1.176 0.676 1.000 0.993 0.990 735 . . . . CCDC173 409 0 289 61 0.174285714285714 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142110 10142110 + G G A Nonsense_Mutation SNP ENST00000256474.3 exon1 c.G263A p.W88X exonic ENSG00000134086.8 . stopgain ENSG00000134086.8:ENST00000256474.3:exon1:c.G263A:p.W88X 3p25.3 C3N-00573 . . . . . . . . rs119103277 5.6 . . . . D A . . . 0.908 . . . . . . . . . D D . . 8.159 41 0.995 D N 0.837 9.556 0.706 7.872 1.000 0.442 0.522 0.522 0.373 . 5.070 5.070 6.043 1.002 0.522 1.000 0.870 0.743 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56545932;OCCURENCE=15(kidney) VHL 391 0 230 99 0.300911854103343 TRUE TRUE +ENSG00000161203.13 . BCM GRCh38.p13 chr3 184182173 184182174 + AC AC - Frame_Shift_Del DEL ENST00000292807.9 exon10 c.986_987del p.T330Kfs*41 exonic ENSG00000161203.13 . frameshift deletion ENSG00000161203.13:ENST00000292807.9:exon10:c.986_987del:p.T330Kfs*41 3q27.1 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP2M1 131 0 57 21 0.269230769230769 TRUE TRUE +ENSG00000171617.14 . BCM GRCh38.p13 chr5 74636475 74636475 + C C G Missense_Mutation SNP ENST00000651128.1 exon3 c.G11C p.S4T exonic ENSG00000171617.14 . nonsynonymous SNV ENSG00000171617.14:ENST00000651128.1:exon3:c.G11C:p.S4T 5q13.3 C3N-00573 . . . . . . . . . 7.20 T T B B D D L T D 0.358 T T D 0.145 0.258 0.514 0.806 T T T T T D 1.984 19.140 0.871 D D -0.008 2.482 0.226 3.314 1.000 0.722 0.696 0.710 0.735 . 5.930 5.930 4.936 1.026 0.599 1.000 0.996 0.983 428 . . . . ENC1 59 0 54 21 0.28 TRUE TRUE +ENSG00000164330.17 . BCM GRCh38.p13 chr5 158712284 158712284 + G G T Missense_Mutation SNP ENST00000313708.11 exon14 c.C1419A p.S473R exonic ENSG00000164330.17 . nonsynonymous SNV ENSG00000164330.17:ENST00000313708.11:exon14:c.C1419A:p.S473R 5q33.3 C3N-00573 . . . . . . . . . 15.20 D D D P D D M T D 0.916 T T D 0.348 0.226 0.703 0.588 T D D D D D 3.409 24.400 0.998 D D 0.402 4.353 0.423 4.525 1.000 0.707 0.725 0.602 0.564 . 4.770 3.900 8.111 1.176 0.676 1.000 1.000 0.999 642 . . . . EBF1 219 0 254 51 0.167213114754098 TRUE TRUE +ENSG00000152818.18 . BCM GRCh38.p13 chr6 144523180 144523180 + T T A Missense_Mutation SNP ENST00000367545.7 exon40 c.T5898A p.D1966E exonic ENSG00000152818.18 . nonsynonymous SNV ENSG00000152818.18:ENST00000367545.7:exon40:c.T5898A:p.D1966E 6q24.2 C3N-00573 . . . . . . . . . 4.19 T . P B D N M T N 0.321 T T T 0.035 0.291 0.292 0.543 T T T T D T 1.154 13.260 0.994 D N -0.373 1.443 -0.292 1.582 0.003 0.732 0.725 0.744 0.714 . 5.800 1.870 0.753 1.138 0.609 0.995 0.956 0.630 910 . . . . UTRN 89 0 67 23 0.255555555555556 TRUE TRUE +ENSG00000120279.6 . BCM GRCh38.p13 chr6 152721931 152721935 + GTGGC GTGGC - Frame_Shift_Del DEL ENST00000367245.5 exon2 c.386_390del p.S129Mfs*2 exonic ENSG00000120279.6 . frameshift deletion ENSG00000120279.6:ENST00000367245.5:exon2:c.386_390del:p.S129Mfs*2 6q25.2 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYCT1 195 0 149 37 0.198924731182796 TRUE TRUE +ENSG00000185811.19 . BCM GRCh38.p13 chr7 50387453 50387453 + C C T Missense_Mutation SNP ENST00000331340.8 exon6 c.C698T p.P233L exonic ENSG00000185811.19 . nonsynonymous SNV ENSG00000185811.19:ENST00000331340.8:exon6:c.C698T:p.P233L 7p12.2 C3N-00573 . . . . . . . . . 8.19 D T D B D D . T N 0.318 T T T 0.147 0.420 0.272 . T T T T D D 3.183 23.800 0.981 D D 0.196 3.287 0.244 3.408 1.000 0.563 0.654 0.550 0.542 . 5.770 4.870 3.869 1.026 0.599 1.000 0.996 0.995 . . . . ID=COSV58786626;OCCURENCE=1(skin),1(endometrium) IKZF1 145 0 92 35 0.275590551181102 TRUE TRUE +ENSG00000135211.6 . BCM GRCh38.p13 chr7 77794192 77794192 + - NA A Frame_Shift_Ins NA ENST00000257663.4 exon2 c.181dupT p.C61Lfs*2 exonic ENSG00000135211.6 . frameshift insertion ENSG00000135211.6:ENST00000257663.4:exon2:c.181dupT:p.C61Lfs*2 7q11.23 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM60 NA NA NA NA NA NA NA +ENSG00000135164.18 . BCM GRCh38.p13 chr7 87194095 87194095 + T T - Frame_Shift_Del DEL ENST00000394703.9 exon18 c.2021delT p.T675Lfs*4 exonic ENSG00000135164.18 . frameshift deletion ENSG00000135164.18:ENST00000394703.9:exon18:c.2021delT:p.T675Lfs*4 7q21.12 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMTF1 49 0 20 9 0.310344827586207 TRUE TRUE +ENSG00000046889.19 . BCM GRCh38.p13 chr8 68080753 68080753 + C C A Missense_Mutation SNP ENST00000288368.5 exon17 c.C1793A p.S598Y exonic ENSG00000046889.19 . nonsynonymous SNV ENSG00000046889.19:ENST00000288368.5:exon17:c.C1793A:p.S598Y 8q13.2 C3N-00573 . . . . . . . . . 7.20 D T P B D D N T N 0.501 T T D 0.245 0.379 0.382 1.074 T T T T D T 2.726 22.900 0.995 D D 0.447 4.648 0.574 5.916 1.000 0.732 0.574 0.744 0.728 . 5.770 5.770 7.184 1.026 0.599 1.000 0.998 0.998 94 PDZ_domain . . . PREX2 70 0 20 8 0.285714285714286 TRUE TRUE +ENSG00000205189.12 . BCM GRCh38.p13 chr8 80487117 80487117 + C C T Missense_Mutation SNP ENST00000455036.8 exon1 c.C307T p.P103S exonic ENSG00000205189.12 . nonsynonymous SNV ENSG00000205189.12:ENST00000455036.8:exon1:c.C307T:p.P103S 8q21.13 C3N-00573 . . . . . . . . . 5.20 D T B B U D N T N 0.303 T T D 0.073 0.087 0.043 0.745 D T T T T T 2.831 23.100 0.991 D N -0.242 1.763 -0.143 1.929 1.000 0.455 0.219 0.607 0.622 . 2.830 2.830 1.337 0.834 0.456 0.999 1.000 0.993 859 . . . . ZBTB10 88 0 107 20 0.15748031496063 TRUE TRUE +ENSG00000164930.12 . BCM GRCh38.p13 chr8 103325403 103325403 + G G A Missense_Mutation SNP ENST00000358755.5 exon4 c.G1297A p.G433R exonic ENSG00000164930.12 . nonsynonymous SNV ENSG00000164930.12:ENST00000358755.5:exon4:c.G1297A:p.G433R 8q22.3 C3N-00573 4.943e-05 0 0 0 0 0 0 0.0004 rs541992719 19.20 D D D D D D M D D 0.880 D D D 0.740 0.867 0.980 1.005 T D D D D D 4.174 28.400 0.999 D D 0.970 13.001 0.939 15.546 1.000 0.732 0.634 0.744 0.714 . 6.030 6.030 10.003 1.176 0.676 1.000 0.988 0.981 279 GPCR,_family_2-like;Frizzled/Smoothened,_transmembrane_domain . . ID=COSV62471649;OCCURENCE=1(large_intestine),1(stomach) FZD6 243 0 188 52 0.216666666666667 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112556775 112556775 + G G T Missense_Mutation SNP ENST00000297405.10 exon25 c.C4222A p.P1408T exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon25:c.C4222A:p.P1408T 8q23.3 C3N-00573 . . . . . . . . . 18.20 D D D D D D H T D 0.907 D D D 0.808 0.798 0.844 0.707 D T D D D D 4.033 27.200 0.997 D D 0.846 9.739 0.822 10.806 1.000 0.487 0.574 0.574 0.564 . 5.110 5.110 10.003 1.176 0.676 1.000 1.000 0.999 855 Sushi/SCR/CCP_domain . . . CSMD3 133 0 102 24 0.19047619047619 TRUE TRUE +ENSG00000122728.6 . BCM GRCh38.p13 chr9 32632072 32632072 + C C T Missense_Mutation SNP ENST00000242310.4 exon1 c.G3508A p.A1170T exonic ENSG00000122728.6 . nonsynonymous SNV ENSG00000122728.6:ENST00000242310.4:exon1:c.G3508A:p.A1170T 9p21.1 C3N-00573 . . . . . . . . . 4.20 T T B B D D N T N 0.091 T T T 0.075 0.155 0.258 0.146 T T T T D D 0.537 6.887 0.816 N N -0.812 0.637 -0.790 0.772 1.000 0.638 0.670 0.659 0.655 . 0.479 0.479 3.651 0.275 0.243 0.999 0.065 0.031 836 . . . . TAF1L 307 0 248 72 0.225 TRUE TRUE +ENSG00000122735.16 . BCM GRCh38.p13 chr9 34514677 34514677 + G G A Missense_Mutation SNP ENST00000242317.9 exon18 c.G1756A p.G586S exonic ENSG00000122735.16 . nonsynonymous SNV ENSG00000122735.16:ENST00000242317.9:exon18:c.G1756A:p.G586S 9p13.3 C3N-00573 . . . . . . . . . 11.20 D T B B D D M T D 0.518 T T T 0.370 0.518 0.906 0.202 T D D D D T 3.218 23.900 0.993 D D 0.442 4.616 0.500 5.161 1.000 0.615 0.563 0.659 0.530 . 5.140 5.140 6.149 0.230 -0.106 1.000 0.930 0.621 343 . . . . DNAI1 486 0 402 125 0.23719165085389 TRUE TRUE +ENSG00000165637.13 . BCM GRCh38.p13 chr10 75211186 75211186 + C C T Missense_Mutation SNP ENST00000332211.10 exon2 c.C28T p.R10C exonic ENSG00000165637.13 . nonsynonymous SNV ENSG00000165637.13:ENST00000332211.10:exon2:c.C28T:p.R10C 10q22.2 C3N-00573 . . . . . . . . . 3.20 D D B B N D N T N 0.684 T T T 0.229 0.414 0.668 . T T T T T T 2.497 22.400 0.997 N N -0.254 1.731 -0.098 2.052 1.000 0.733 0.219 0.601 0.581 . 5.120 3.090 1.416 1.026 0.599 0.979 0.836 0.949 19 . . . . VDAC2 155 0 93 36 0.27906976744186 TRUE NA +ENSG00000166024.13 . BCM GRCh38.p13 chr10 98208731 98208731 + G G C Missense_Mutation SNP ENST00000612478.4 exon3 c.G617C p.R206T exonic ENSG00000166024.13 . nonsynonymous SNV ENSG00000166024.13:ENST00000612478.4:exon3:c.G617C:p.R206T 10q24.2 C3N-00573 . . . . . . . . . 2.20 T T B B N D L T N 0.146 T T T 0.036 0.273 0.349 0.022 T T T T T T 1.534 15.950 0.414 D N -0.445 1.287 -0.387 1.395 0.858 0.707 0.725 0.609 0.714 . 5.560 2.150 0.855 0.224 0.676 1.000 0.917 0.249 767 . . . . R3HCC1L 202 0 78 35 0.309734513274336 TRUE TRUE +ENSG00000185187.13 . BCM GRCh38.p13 chr11 407844 407844 + C C A Missense_Mutation SNP ENST00000431843.7 exon5 c.G454T p.D152Y exonic ENSG00000185187.13 . nonsynonymous SNV ENSG00000185187.13:ENST00000431843.7:exon5:c.G454T:p.D152Y 11p15.5 C3N-00573 . . . . . . . . . 13.20 D D D D D D M T D 0.622 T T D 0.198 0.536 0.461 0.887 T T T T D D 4.206 28.700 0.989 D D -0.342 1.514 -0.385 1.399 1.000 0.767 0.588 0.851 0.563 . 3.660 2.740 0.978 0.954 0.458 0.731 0.541 0.815 900 . . . . SIGIRR 191 0 149 37 0.198924731182796 TRUE TRUE +ENSG00000215182.8 . BCM GRCh38.p13 chr11 1195101 1195101 + G G A Missense_Mutation SNP ENST00000621226.2 exon36 c.G15280A p.V5094M exonic ENSG00000215182.8 . nonsynonymous SNV ENSG00000215182.8:ENST00000621226.2:exon36:c.G15280A:p.V5094M 11p15.5 C3N-00573 . . . . . . . . . 2.5 . D . . . . . . . 0.358 . . . . . 0.332 . . T T T . . 3.106 23.600 0.773 D . . . . . 0.005 0.057 0.061 0.074 0.063 0.643 4.520 3.560 1.464 1.171 0.604 0.006 0.010 0.003 . von_Willebrand_factor,_type_D_domain . . . MUC5AC 241 0 193 27 0.122727272727273 TRUE NA +ENSG00000135372.9 . BCM GRCh38.p13 chr11 34122544 34122544 + G G C Missense_Mutation SNP ENST00000257829.8 exon9 c.G866C p.G289A exonic ENSG00000135372.9 . nonsynonymous SNV ENSG00000135372.9:ENST00000257829.8:exon9:c.G866C:p.G289A 11p13 C3N-00573 . . . . . . . . . 20.20 D D D D D D H D D 0.987 D D D 0.916 0.959 0.992 0.803 D D D D D D 4.067 27.500 0.999 D D 1.116 18.230 1.035 21.139 1.000 0.719 0.723 0.725 0.714 . 5.780 5.780 9.754 1.176 0.676 1.000 0.995 0.990 332 Helicase_domain . . . NAT10 268 0 210 52 0.198473282442748 TRUE TRUE +ENSG00000189079.17 . BCM GRCh38.p13 chr12 45837600 45837600 + - NA T Frame_Shift_Ins NA ENST00000334344.11 exon10 c.1224dupT p.L409Ffs*3 exonic ENSG00000189079.17 . frameshift insertion ENSG00000189079.17:ENST00000334344.11:exon10:c.1224dupT:p.L409Ffs*3 12q12 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID2 NA NA NA NA NA NA NA +ENSG00000134884.15 . BCM GRCh38.p13 chr13 106559584 106559584 + T T - Frame_Shift_Del DEL ENST00000400198.8 exon2 c.421delA p.R141Gfs*61 exonic ENSG00000134884.15 . frameshift deletion ENSG00000134884.15:ENST00000400198.8:exon2:c.421delA:p.R141Gfs*61 13q33.3 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARGLU1 214 1 135 40 0.228571428571429 TRUE TRUE +ENSG00000139880.19 . BCM GRCh38.p13 chr14 23049904 23049904 + T T A Missense_Mutation SNP ENST00000397359.7 exon10 c.A1517T p.Q506L exonic ENSG00000139880.19 . nonsynonymous SNV ENSG00000139880.19:ENST00000397359.7:exon10:c.A1517T:p.Q506L 14q11.2 C3N-00573 . . . . . . . . . 7.20 D T P B D D N T D 0.552 T T T 0.175 0.392 0.702 0.621 T T T T D T 3.173 23.800 0.993 D D 0.119 2.963 0.204 3.205 1.000 0.707 0.670 0.725 0.714 . 4.860 4.860 1.647 1.138 0.665 0.728 1.000 0.997 805 Cadherin-like . . ID=COSV57464269;OCCURENCE=1(lung) CDH24 134 0 105 30 0.222222222222222 TRUE TRUE +ENSG00000100647.8 . BCM GRCh38.p13 chr14 69704723 69704723 + A A T Nonsense_Mutation SNP ENST00000342745.5 exon4 c.A439T p.K147X exonic ENSG00000100647.8 . stopgain ENSG00000100647.8:ENST00000342745.5:exon4:c.A439T:p.K147X 14q24.1 C3N-00573 . . . . . . . . . 5.6 . . . . D A . . . 0.255 . . . . . . . . . D D . . 8.820 45 0.997 D N 0.929 11.816 0.815 10.581 1.000 0.707 0.702 0.659 0.714 . 5.430 5.430 8.873 1.207 0.756 1.000 1.000 0.999 481 . . . . SUSD6 143 0 101 34 0.251851851851852 TRUE TRUE +ENSG00000159459.12 . BCM GRCh38.p13 chr15 42950290 42950299 + CATCCAAGTA CATCCAAGTA - Frame_Shift_Del DEL ENST00000290650.9 exon46 c.5071_5080del p.Y1691Nfs*9 exonic ENSG00000159459.12 . frameshift deletion ENSG00000159459.12:ENST00000290650.9:exon46:c.5071_5080del:p.Y1691Nfs*9 15q15.2 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBR1 451 0 342 59 0.14713216957606 TRUE TRUE +ENSG00000159459.12 . BCM GRCh38.p13 chr15 43007091 43007091 + C C A Nonsense_Mutation SNP ENST00000290650.9 exon30 c.G3403T p.E1135X exonic ENSG00000159459.12 . stopgain ENSG00000159459.12:ENST00000290650.9:exon30:c.G3403T:p.E1135X 15q15.2 C3N-00573 . . . . . . . . . 4.6 . . . . N D . . . 0.902 . . . . . . . . . D D . . 7.250 37 0.996 D N 0.817 9.130 0.665 7.140 0.311 0.732 0.709 0.659 0.728 . 4.950 4.950 2.561 0.929 0.599 0.999 0.908 0.981 18 . . . . UBR1 399 0 269 71 0.208823529411765 TRUE TRUE +ENSG00000167178.16 . BCM GRCh38.p13 chr15 74134666 74134666 + G G A Missense_Mutation SNP ENST00000453268.3 exon3 c.G1912A p.E638K exonic ENSG00000167178.16 . nonsynonymous SNV ENSG00000167178.16:ENST00000453268.3:exon3:c.G1912A:p.E638K 15q24.1 C3N-00573 . . . . . . . . . 11.20 D D D D D D L T N 0.559 T T D 0.300 0.311 0.651 . T T D T D T 4.335 29.900 0.999 D D 0.504 5.064 0.491 5.082 1.000 0.598 0.596 0.666 0.636 . 4.580 4.580 7.750 1.157 0.595 1.000 0.997 0.998 829 . . . . ISLR2 301 0 221 59 0.210714285714286 TRUE NA +ENSG00000170776.22 . BCM GRCh38.p13 chr15 85727244 85727244 + C C A Missense_Mutation SNP ENST00000394518.7 exon28 c.C7001A p.T2334N exonic ENSG00000170776.22 . nonsynonymous SNV ENSG00000170776.22:ENST00000394518.7:exon28:c.C7001A:p.T2334N 15q25.3 C3N-00573 . . . . . . . . . 4.19 T T B B . D L T N 0.297 T T T 0.036 0.202 0.253 0.042 T T T T T D 1.903 18.510 0.948 D D -0.493 1.190 -0.327 1.509 1.000 0.732 0.702 0.744 0.714 . 5.740 3.860 1.773 -0.268 -0.187 0.812 0.960 0.898 768 Pleckstrin_homology_domain . . . AKAP13 118 0 103 34 0.248175182481752 TRUE TRUE +ENSG00000077235.18 . BCM GRCh38.p13 chr16 27465414 27465414 + T T A Missense_Mutation SNP ENST00000356183.9 exon33 c.A5201T p.Y1734F exonic ENSG00000077235.18 . nonsynonymous SNV ENSG00000077235.18:ENST00000356183.9:exon33:c.A5201T:p.Y1734F 16p12.1 C3N-00573 . . . . . . . . . 10.20 D D D D D D M T N 0.592 T T T 0.287 0.494 0.377 1.034 T T T T D T 3.181 23.800 0.978 D D 0.501 5.042 0.398 4.347 1.000 0.707 0.702 0.698 0.714 . 5.170 5.170 5.807 1.108 0.572 1.000 0.023 0.008 589 . . . . GTF3C1 352 0 268 85 0.240793201133144 TRUE TRUE +ENSG00000254206.5 . BCM GRCh38.p13 chr16 29384196 29384196 + G G A Nonsense_Mutation SNP ENST00000524087.5 exon8 c.C736T p.Q246X exonic ENSG00000254206.5 . stopgain ENSG00000254206.5:ENST00000524087.5:exon8:c.C736T:p.Q246X 16p11.2 C3N-00573 . . . . . . . . . 1.5 . . . . . D . . . 0.032 . . . . . . . . . T T . . 2.698 22.800 0.970 N N -0.148 2.028 -0.606 1.037 0.000 0.732 0.744 0.659 0.655 . . . -0.190 0.324 0.302 0.000 0.001 0.001 774 . . . . NPIPB11 151 0 109 27 0.198529411764706 NA TRUE +ENSG00000132510.10 . BCM GRCh38.p13 chr17 7846191 7846191 + A A G Missense_Mutation SNP ENST00000448097.6 exon6 c.A350G p.Y117C exonic ENSG00000132510.10 . nonsynonymous SNV ENSG00000132510.10:ENST00000448097.6:exon6:c.A350G:p.Y117C 17p13.1 C3N-00573 . . . . . . . . . 11.20 D D D D N D L T D 0.859 T T T 0.285 0.501 0.348 0.145 T T D T D D 4.093 27.700 0.996 D D 0.556 5.502 0.550 5.650 1.000 0.672 0.702 0.645 0.636 . 4.480 4.480 4.814 1.312 0.756 1.000 0.791 0.947 298 . . . . KDM6B 344 0 264 60 0.185185185185185 TRUE TRUE +ENSG00000185862.7 . BCM GRCh38.p13 chr17 31305049 31305049 + A A T Missense_Mutation SNP ENST00000330927.5 exon2 c.T561A p.D187E exonic ENSG00000185862.7 . nonsynonymous SNV ENSG00000185862.7:ENST00000330927.5:exon2:c.T561A:p.D187E 17q11.2 C3N-00573 . . . . . . . . . 0.20 T T B B N N N T N 0.013 T T T 0.050 . 0.199 0.034 T T T T T T -0.631 0.062 0.697 N N -1.525 0.074 -1.430 0.137 0.989 0.672 0.702 0.618 0.528 . 5.460 1.790 0.009 0.222 -0.227 0.000 0.037 0.094 791 . . . ID=COSV58364161;OCCURENCE=1(thyroid) EVI2B 202 0 75 26 0.257425742574257 TRUE TRUE +ENSG00000236320.4 . BCM GRCh38.p13 chr17 35557180 35557180 + T T A Nonsense_Mutation SNP ENST00000674182.1 exon3 c.A883T p.K295X exonic ENSG00000236320.4 . stopgain ENSG00000236320.4:ENST00000674182.1:exon3:c.A883T:p.K295X 17q12 C3N-00573 . . . . . . . . . 4.5 . . . . . A . . . 0.187 . . . . . . . . . D D . . 6.470 36 0.996 D N 0.686 6.934 0.537 5.512 1.000 0.487 0.574 0.574 0.530 . 4.710 4.710 1.380 1.138 0.665 0.977 0.070 0.969 0 Schlafen,_AAA_domain . . . SLFN14 231 0 150 48 0.242424242424242 TRUE TRUE +ENSG00000186075.12 . BCM GRCh38.p13 chr17 39875405 39875405 + G G A Missense_Mutation SNP ENST00000348931.8 exon7 c.G860A p.R287H exonic ENSG00000186075.12 . nonsynonymous SNV ENSG00000186075.12:ENST00000348931.8:exon7:c.G860A:p.R287H 17q21.1 C3N-00573 8.26e-06 9.656e-05 0 0 0 0 0 0 rs139706909 1.20 T T B B N N N T N 0.194 T T D 0.128 . 0.136 0.271 T T T T T T 1.847 18.080 0.664 N N -0.833 0.608 -0.673 0.939 0.953 0.554 0.588 0.574 0.542 . 5.430 1.970 1.083 -0.275 -0.262 0.993 0.179 0.180 671 . . . . ZPBP2 106 1 92 13 0.123809523809524 TRUE NA +ENSG00000167363.14 . BCM GRCh38.p13 chr17 82741338 82741338 + A A G Missense_Mutation SNP ENST00000300784.8 exon4 c.A413G p.Q138R exonic ENSG00000167363.14 . nonsynonymous SNV ENSG00000167363.14:ENST00000300784.8:exon4:c.A413G:p.Q138R 17q25.3 C3N-00573 . . . . . . . . . 0.20 T T B B N N L T N 0.207 T T T 0.032 0.362 0.124 0.238 T T T T T T -0.097 0.842 0.491 N N -1.519 0.076 -1.665 0.059 1.000 0.707 0.634 0.725 0.714 . 4.100 -8.040 -0.104 -0.149 -0.114 0.001 0.205 0.255 . . . . . FN3K 412 1 306 96 0.238805970149254 NA TRUE +ENSG00000130856.16 . BCM GRCh38.p13 chr18 76927167 76927167 + T T A Missense_Mutation SNP ENST00000253159.12 exon23 c.T4152A p.N1384K exonic ENSG00000130856.16 . nonsynonymous SNV ENSG00000130856.16:ENST00000253159.12:exon23:c.T4152A:p.N1384K 18q23 C3N-00573 . . . . . . . . . 10.20 T D D D D D M T N 0.514 T T D 0.276 0.479 0.577 1.614 T T T T D D 1.961 18.960 0.990 D N -0.191 1.902 -0.345 1.475 0.997 0.732 0.654 0.744 0.636 . 5.480 -5.820 0.278 -0.568 -0.123 0.986 0.944 0.563 877 . . . . ZNF236 158 0 119 32 0.211920529801325 TRUE TRUE +ENSG00000105251.11 . BCM GRCh38.p13 chr19 4282907 4282907 + C C A Missense_Mutation SNP ENST00000543264.7 exon2 c.C335A p.A112D exonic ENSG00000105251.11 . nonsynonymous SNV ENSG00000105251.11:ENST00000543264.7:exon2:c.C335A:p.A112D 19p13.3 C3N-00573 . . . . . . . . . 12.20 D D D D N D M T D 0.742 T T D 0.205 0.173 0.841 0.763 T D T T D D 3.253 24.000 0.997 D N 0.494 4.986 0.412 4.442 0.001 0.677 0.590 0.673 0.639 . 5.360 5.360 1.894 0.935 0.585 0.985 0.614 0.178 923 . . . . SHD 193 0 131 38 0.224852071005917 TRUE TRUE +ENSG00000149639.15 . BCM GRCh38.p13 chr20 36802880 36802880 + - NA T Frame_Shift_Ins NA ENST00000237536.9 exon11 c.3314dupA p.E1106Gfs*36 exonic ENSG00000149639.15 . frameshift insertion ENSG00000149639.15:ENST00000237536.9:exon11:c.3314dupA:p.E1106Gfs*36 20q11.23 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOGA1 NA NA NA NA NA NA NA +ENSG00000100228.12 . BCM GRCh38.p13 chr22 23145402 23145402 + G G A Missense_Mutation SNP ENST00000263116.6 exon1 c.G37A p.A13T exonic ENSG00000100228.12 . nonsynonymous SNV ENSG00000100228.12:ENST00000263116.6:exon1:c.G37A:p.A13T 22q11.23 C3N-00573 . . . . . . . . . 2.20 D D B B N N N T N 0.133 T T T 0.120 0.262 0.630 0.765 T T T T T T 0.278 4.027 0.993 N N -1.274 0.179 -1.311 0.202 1.000 0.623 0.378 0.378 0.273 . 3.220 -0.220 -0.343 -1.044 -0.145 0.000 0.000 0.000 988 . . . . RAB36 144 0 110 37 0.251700680272109 TRUE TRUE +ENSG00000128268.12 . BCM GRCh38.p13 chr22 39488781 39488781 + C C G Missense_Mutation SNP ENST00000341184.7 exon2 c.C1434G p.S478R exonic ENSG00000128268.12 . nonsynonymous SNV ENSG00000128268.12:ENST00000341184.7:exon2:c.C1434G:p.S478R 22q13.1 C3N-00573 . . . . . . . . . 2.19 T T B B N D L . N 0.059 T T T 0.044 0.527 0.146 1.219 T T T T D T 0.214 3.287 0.924 N N -1.015 0.389 -0.922 0.590 1.000 0.672 0.702 0.723 0.613 . 5.830 -3.080 -0.096 -0.664 -0.852 0.760 0.882 0.410 906 . . . . MGAT3 278 0 229 46 0.167272727272727 TRUE TRUE +ENSG00000077264.15 . BCM GRCh38.p13 chrX 111173068 111173068 + A A G Missense_Mutation SNP ENST00000372010.5 exon12 c.A862G p.K288E exonic ENSG00000077264.15 . nonsynonymous SNV ENSG00000077264.15:ENST00000372010.5:exon12:c.A862G:p.K288E Xq23 C3N-00573 . . . . . . . . . 12.19 D D B B D D N T D 0.622 T T D 0.525 0.676 0.980 4.317 D T D D D D 3.446 24.500 0.998 D . . . . . 0.998 . . . . . 5.570 5.570 7.373 1.312 0.756 1.000 1.000 1.000 778 Protein_kinase_domain;p21-activated_kinase_3,_catalytic_domain . . . PAK3 138 0 48 45 0.483870967741935 TRUE TRUE +ENSG00000142949.17 . BCM GRCh38.p13 chr1 43603876 43603876 + C C T Silent SNP ENST00000359947.9 exon16 c.C2724T p.I908I exonic ENSG00000142949.17 . synonymous SNV ENSG00000142949.17:ENST00000359947.9:exon16:c.C2724T:p.I908I 1p34.2 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRF 378 0 311 77 0.198453608247423 TRUE TRUE +ENSG00000198952.8 . BCM GRCh38.p13 chr1 156267558 156267558 + A A G Silent SNP ENST00000361813.5 exon10 c.T1029C p.Y343Y exonic ENSG00000198952.8 . synonymous SNV ENSG00000198952.8:ENST00000361813.5:exon10:c.T1029C:p.Y343Y 1q22 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMG5 185 0 137 27 0.164634146341463 TRUE TRUE +ENSG00000170385.10 . BCM GRCh38.p13 chr1 211575772 211575772 + G G A Silent SNP ENST00000367001.5 exon2 c.C1140T p.S380S exonic ENSG00000170385.10 . synonymous SNV ENSG00000170385.10:ENST00000367001.5:exon2:c.C1140T:p.S380S 1q32.3 C3N-00573 8.239e-06 0 8.637e-05 0 0 0 0 0 rs778612093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65361153;OCCURENCE=1(upper_aerodigestive_tract) SLC30A1 220 0 122 42 0.25609756097561 TRUE TRUE +ENSG00000138030.13 . BCM GRCh38.p13 chr2 27099471 27099471 + T T C Silent SNP ENST00000260598.10 exon7 c.T705C p.P235P exonic ENSG00000138030.13 . synonymous SNV ENSG00000138030.13:ENST00000260598.10:exon7:c.T705C:p.P235P 2p23.3 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KHK 291 0 211 50 0.191570881226054 TRUE TRUE +ENSG00000214309.5 . BCM GRCh38.p13 chr7 100127884 100127884 + G G A Silent SNP ENST00000398075.4 exon2 c.G489A p.V163V exonic ENSG00000214309.5 . synonymous SNV ENSG00000214309.5:ENST00000398075.4:exon2:c.G489A:p.V163V 7q22.1 C3N-00573 4.376e-05 0 0 0.0011 0 0 0 0 rs755430950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MBLAC1 62 0 66 17 0.204819277108434 TRUE NA +ENSG00000155096.14 . BCM GRCh38.p13 chr8 102836318 102836318 + C C T Silent SNP ENST00000337198.10 exon6 c.G522A p.L174L exonic ENSG00000155096.14 . synonymous SNV ENSG00000155096.14:ENST00000337198.10:exon6:c.G522A:p.L174L 8q22.3 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AZIN1 225 0 133 30 0.184049079754601 TRUE TRUE +ENSG00000148408.13 . BCM GRCh38.p13 chr9 138096585 138096585 + C C G Silent SNP ENST00000371372.6 exon37 c.C5196G p.V1732V exonic ENSG00000148408.13 . synonymous SNV ENSG00000148408.13:ENST00000371372.6:exon37:c.C5196G:p.V1732V 9q34.3 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53123143;OCCURENCE=1(urinary_tract) CACNA1B 104 0 74 23 0.237113402061856 TRUE TRUE +ENSG00000137674.4 . BCM GRCh38.p13 chr11 102625281 102625281 + G G T Silent SNP ENST00000260228.3 exon1 c.C39A p.L13L exonic ENSG00000137674.4 . synonymous SNV ENSG00000137674.4:ENST00000260228.3:exon1:c.C39A:p.L13L 11q22.2 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP20 482 1 420 23 0.0519187358916479 TRUE TRUE +ENSG00000102471.14 . BCM GRCh38.p13 chr13 79548384 79548384 + T T C Silent SNP ENST00000612570.4 exon6 c.T897C p.F299F exonic ENSG00000102471.14 . synonymous SNV ENSG00000102471.14:ENST00000612570.4:exon6:c.T897C:p.F299F 13q31.1 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDFIP2 43 0 22 6 0.214285714285714 TRUE TRUE +ENSG00000108375.12 . BCM GRCh38.p13 chr17 58357574 58357574 + G G T Silent SNP ENST00000584437.5 exon8 c.C2202A p.P734P exonic ENSG00000108375.12;ENSG00000285897.1 . synonymous SNV ENSG00000108375.12:ENST00000584437.5:exon8:c.C2202A:p.P734P,ENSG00000285897.1:ENST00000648873.1:exon8:c.C2202A:p.P734P 17q22 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF43 188 0 144 42 0.225806451612903 TRUE TRUE +ENSG00000182040.9 . BCM GRCh38.p13 chr17 74919921 74919921 + G G T Silent SNP ENST00000614341.5 exon2 c.C915A p.S305S exonic ENSG00000182040.9 . synonymous SNV ENSG00000182040.9:ENST00000614341.5:exon2:c.C915A:p.S305S 17q25.1 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USH1G 88 0 68 23 0.252747252747253 TRUE TRUE +ENSG00000213973.9 . BCM GRCh38.p13 chr19 22758502 22758502 + T T C Silent SNP ENST00000596209.4 exon4 c.A1407G p.R469R exonic ENSG00000213973.9 . synonymous SNV ENSG00000213973.9:ENST00000596209.4:exon4:c.A1407G:p.R469R 19p12 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF99 164 0 64 16 0.2 NA TRUE +ENSG00000261949.5 . BCM GRCh38.p13 chr19 49427174 49427174 + C C G Silent SNP ENST00000576655.5 exon3 c.C744G p.T248T exonic ENSG00000261949.5 . synonymous SNV ENSG00000261949.5:ENST00000576655.5:exon3:c.C744G:p.T248T 19q13.33 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GFY 174 0 123 55 0.308988764044944 TRUE TRUE +ENSG00000114948.13 . BCM GRCh38.p13 chr2 206617659 206617659 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000114948.13 ENST00000264377.8:c.*32C>T . . 2q33.3 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAM23 159 0 152 26 0.146067415730337 TRUE TRUE +ENSG00000188846.14 . BCM GRCh38.p13 chr3 40457520 40457520 + G G A Intron SNP NA NA NA NA intronic ENSG00000188846.14 . . . 3p22.1 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPL14 119 0 66 36 0.352941176470588 TRUE NA +ENSG00000079102.16 . BCM GRCh38.p13 chr8 92095109 92095109 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000079102.16 ENST00000613302.4:c.-19057G>C . . 8q21.3 C3N-00573 . . . . . . . . . 2.6 . T . . . D . . . 0.338 . . . . . 0.600 . . . T T . T 2.663 22.800 0.928 D . . . . . 1.000 0.120 0.060 0.162 0.097 0.981 5.710 5.710 5.326 1.026 0.599 1.000 0.991 0.970 500 . . . . RUNX1T1 191 0 162 38 0.19 TRUE NA +ENSG00000011347.10 . BCM GRCh38.p13 chr11 61546044 61546044 + G G A Intron SNP NA NA NA NA intronic ENSG00000011347.10 . . . 11q12.2 C3N-00573 . . . . . . . . . 6.15 D T . . . D . T N 0.513 T T D 0.183 0.202 0.713 1.709 T . T T D T 3.383 24.400 0.998 D D 0.587 5.799 0.536 5.500 1.000 0.696 0.547 0.723 0.563 . 3.560 3.560 8.922 1.176 0.618 1.000 1.000 0.999 590 . . . . SYT7 217 0 176 44 0.2 TRUE TRUE +ENSG00000137501.17 . BCM GRCh38.p13 chr11 85727643 85727643 + C C T Intron SNP NA NA NA NA intronic ENSG00000137501.17 . . . 11q14.1 C3N-00573 . . . . . . . . . 1.9 . D . . N N . . . 0.137 T T T 0.028 . . . . . . . . T -0.479 0.131 0.988 N N -0.658 0.885 -0.823 0.726 1.000 0.554 0.590 0.574 0.568 . 6.170 -3.440 -1.694 0.138 0.599 0.000 0.056 0.044 415 . . . . SYTL2 96 0 70 22 0.239130434782609 TRUE NA +ENSG00000286067.1 . BCM GRCh38.p13 chr12 120219627 120219627 + A A T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000286067.1 . . . 12q24.23 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC004263.2 53 0 42 14 0.25 TRUE NA +ENSG00000125823.12 . BCM GRCh38.p13 chr20 23440267 23440267 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000125823.12 ENST00000347397.5:c.-1C>G . . 20p11.21 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSTL1 114 0 110 39 0.261744966442953 TRUE NA +ENSG00000102287.19 . BCM GRCh38.p13 chrX 151971306 151971306 + T T G Intron SNP NA NA NA NA intronic ENSG00000102287.19 . . . Xq28 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABRE 41 1 16 20 0.555555555555556 TRUE NA +ENSG00000109472.14 . BCM GRCh38.p13 chr4 165493224 165493226 + GAA GAA AAT Unknown MNP ENST00000402744.9 exon7 c.1167_1169delinsAAT p.N390I exonic ENSG00000109472.14 . nonframeshift substitution ENSG00000109472.14:ENST00000402744.9:exon7:c.1167_1169delinsAAT:p.N390I 4q32.3 C3N-00573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPE 194 0 148 26 0.149425287356322 TRUE NA +ENSG00000142798.20 . BCM GRCh38.p13 chr1 21848783 21848783 + C C A Missense_Mutation SNP ENST00000374695.8 exon59 c.G7597T p.A2533S exonic ENSG00000142798.20 . nonsynonymous SNV ENSG00000142798.20:ENST00000374695.8:exon59:c.G7597T:p.A2533S 1p36.12 C3N-00577 . . . . . . . . . 1.20 T T B B N N N T N 0.146 T T D 0.120 0.365 0.409 0.213 T T T T T T 1.490 15.670 0.973 N N -0.593 1.001 -0.456 1.275 0.691 0.672 0.634 0.702 0.711 . 4.880 3.960 0.898 1.026 0.599 0.041 0.968 0.624 835 . . . . HSPG2 200 0 343 19 0.0524861878453039 TRUE TRUE +ENSG00000142661.19 . BCM GRCh38.p13 chr1 24089554 24089554 + G G T Missense_Mutation SNP ENST00000374434.4 exon14 c.C1598A p.T533K exonic ENSG00000142661.19 . nonsynonymous SNV ENSG00000142661.19:ENST00000374434.4:exon14:c.C1598A:p.T533K 1p36.11 C3N-00577 . . . . . . . . . 1.20 T T P B N N M T N 0.293 T T T 0.259 0.589 0.313 0.121 T T T T T T 1.773 17.540 0.911 N N -0.101 2.172 -0.136 1.948 0.906 0.554 0.590 0.547 0.568 . 5.290 3.270 1.336 1.176 0.676 0.818 0.587 0.238 408 Fibronectin_type_III . . . MYOM3 67 0 80 23 0.223300970873786 TRUE TRUE +ENSG00000117505.13 . BCM GRCh38.p13 chr1 93360624 93360624 + T T A Missense_Mutation SNP ENST00000370272.9 exon3 c.T516A p.D172E exonic ENSG00000117505.13 . nonsynonymous SNV ENSG00000117505.13:ENST00000370272.9:exon3:c.T516A:p.D172E 1p22.1 C3N-00577 . . . . . . . . . 3.20 T T B B D D N T N 0.134 T T T 0.198 0.049 0.182 0.970 T T T T T T 1.404 15.110 0.944 D N -0.626 0.940 -0.413 1.348 1.000 0.706 0.725 0.710 0.714 . 5.500 1.630 0.378 1.138 0.609 0.998 1.000 0.997 595 . . . ID=COSV64725888;OCCURENCE=1(large_intestine),1(endometrium) DR1 209 0 182 81 0.307984790874525 TRUE TRUE +ENSG00000162692.12 . BCM GRCh38.p13 chr1 100732517 100732517 + C C T Missense_Mutation SNP ENST00000294728.7 exon7 c.C1625T p.P542L exonic ENSG00000162692.12 . nonsynonymous SNV ENSG00000162692.12:ENST00000294728.7:exon7:c.C1625T:p.P542L 1p21.2 C3N-00577 8.291e-06 0 8.743e-05 0 0 0 0 0 rs745882659 9.20 D D D P N D M T D 0.551 T T D 0.285 0.770 0.602 0.674 T T T T D D 2.565 22.600 0.997 N N 0.440 4.600 0.303 3.737 1.000 0.476 0.602 0.574 0.564 . 5.570 5.570 3.347 1.026 0.599 0.061 0.110 0.742 427 Immunoglobulin_subtype_2;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV54118378;OCCURENCE=1(oesophagus),1(large_intestine) VCAM1 113 0 137 23 0.14375 TRUE TRUE +ENSG00000117543.21 . BCM GRCh38.p13 chr1 100992714 100992714 + C C A Missense_Mutation SNP ENST00000370109.8 exon7 c.G557T p.R186L exonic ENSG00000117543.21 . nonsynonymous SNV ENSG00000117543.21:ENST00000370109.8:exon7:c.G557T:p.R186L 1p21.2 C3N-00577 . . . . . . . . . 12.19 D D P P D D H . D 0.881 T T D 0.745 0.814 0.737 0.411 T T D D D D 3.370 24.300 0.998 D N 0.339 3.985 0.216 3.262 0.232 0.745 0.732 0.725 0.728 . 6.060 2.940 3.653 0.128 0.599 0.998 0.994 0.822 590 Tetrapyrrole_methylase . . ID=COSV59859843;OCCURENCE=1(skin) DPH5 109 0 91 28 0.235294117647059 TRUE TRUE +ENSG00000169242.12 . BCM GRCh38.p13 chr1 155131406 155131406 + T T C Missense_Mutation SNP ENST00000368407.8 exon2 c.T160C p.Y54H exonic ENSG00000169242.12 . nonsynonymous SNV ENSG00000169242.12:ENST00000368407.8:exon2:c.T160C:p.Y54H 1q22 C3N-00577 . . . . . . . . . 16.20 D D D D D D H T D 0.848 T T D 0.487 0.682 0.724 0.867 T D D D D D 3.735 25.500 0.998 D D 0.652 6.498 0.533 5.475 1.000 0.653 0.547 0.676 0.639 . 5.220 5.220 7.670 1.138 0.665 1.000 0.939 0.541 113 Ephrin-A_ectodomain;Ephrin_receptor-binding_domain . . . EFNA1 225 1 235 31 0.116541353383459 TRUE TRUE +ENSG00000075945.13 . BCM GRCh38.p13 chr1 170055411 170055411 + C C G Missense_Mutation SNP ENST00000361580.7 exon2 c.G58C p.V20L exonic ENSG00000075945.13 . nonsynonymous SNV ENSG00000075945.13:ENST00000361580.7:exon2:c.G58C:p.V20L 1q24.2 C3N-00577 . . . . . . . . . 11.20 T T P P D D M T N 0.867 T T D 0.266 0.696 0.496 1.035 D T D D D D 3.464 24.600 0.997 D D 0.463 4.764 0.476 4.946 0.978 0.706 0.710 0.659 0.613 . 5.190 4.270 7.478 1.022 0.545 1.000 1.000 0.995 633 . . . . KIFAP3 122 0 41 5 0.108695652173913 TRUE TRUE +ENSG00000042781.14 . BCM GRCh38.p13 chr1 215671085 215671085 + T T C Missense_Mutation SNP ENST00000307340.8 exon64 c.A14020G p.R4674G exonic ENSG00000042781.14 . nonsynonymous SNV ENSG00000042781.14:ENST00000307340.8:exon64:c.A14020G:p.R4674G 1q41 C3N-00577 . . . . . . . . rs80338904 13.20 D D D D U A M T D 0.814 T T D 0.529 0.739 0.942 0.253 T T D D D T 3.135 23.700 0.998 D D 0.333 3.954 0.258 3.483 0.011 0.487 0.590 0.574 0.564 . 5.090 3.920 0.596 1.138 0.665 1.000 0.994 0.665 656 Fibronectin_type_III . . . USH2A 240 0 249 24 0.0879120879120879 TRUE NA +ENSG00000136628.18 . BCM GRCh38.p13 chr1 220020205 220020205 + - NA AT Frame_Shift_Ins INS ENST00000366923.8 exon10 c.1131_1132insAT p.D378Mfs*7 exonic ENSG00000136628.18 . frameshift insertion ENSG00000136628.18:ENST00000366923.8:exon10:c.1131_1132insAT:p.D378Mfs*7 1q41 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPRS1 NA NA NA NA NA NA NA +ENSG00000143669.14 . BCM GRCh38.p13 chr1 235806606 235806606 + T T C Missense_Mutation SNP ENST00000389793.7 exon6 c.A2530G p.I844V exonic ENSG00000143669.14 . nonsynonymous SNV ENSG00000143669.14:ENST00000389793.7:exon6:c.A2530G:p.I844V 1q42.3 C3N-00577 . . . . . . . . . 0.20 T T B B N N N T N 0.079 T T T 0.046 0.176 0.291 0.065 T T T T T T -0.343 0.253 0.747 N N -1.198 0.228 -1.216 0.270 0.194 0.615 0.588 0.574 0.655 . 5.070 -5.270 -0.590 -0.149 0.665 0.000 0.200 0.864 830 . . . . LYST 478 0 289 37 0.113496932515337 TRUE TRUE +ENSG00000071909.18 . BCM GRCh38.p13 chr2 170236093 170236093 + C C G Missense_Mutation SNP ENST00000408978.8 exon7 c.C706G p.L236V exonic ENSG00000071909.18 . nonsynonymous SNV ENSG00000071909.18:ENST00000408978.8:exon7:c.C706G:p.L236V 2q31.1 C3N-00577 2.484e-05 0.0003 0 0 0 0 0 0 rs556789877 12.20 D D D D D D L T D 0.786 T T D 0.229 0.596 0.696 0.434 T T T T D D 3.479 24.600 0.999 D D 0.382 4.234 0.432 4.596 1.000 0.658 0.404 0.441 0.826 . 5.470 4.360 2.228 1.026 0.599 1.000 0.999 0.992 845 Protein_kinase_domain . . . MYO3B 170 0 96 150 0.609756097560976 TRUE NA +ENSG00000198586.14 . BCM GRCh38.p13 chr2 170996676 170996676 + G G C Missense_Mutation SNP ENST00000431350.7 exon20 c.C2101G p.P701A exonic ENSG00000198586.14 . nonsynonymous SNV ENSG00000198586.14:ENST00000431350.7:exon20:c.C2101G:p.P701A 2q31.1 C3N-00577 . . . . . . . . . 14.20 D D D D D D L T D 0.652 T T D 0.446 0.418 0.573 2.416 D T D T D D 3.872 26.200 0.995 D D 0.766 8.143 0.818 10.676 1.000 0.707 0.702 0.725 0.714 . 5.920 5.920 9.994 1.176 0.671 1.000 0.989 0.988 838 Protein_kinase_domain . . . TLK1 124 0 61 4 0.0615384615384615 TRUE TRUE +ENSG00000178568.15 . BCM GRCh38.p13 chr2 211424242 211424242 + G G A Nonsense_Mutation SNP ENST00000342788.9 exon23 c.C2779T p.R927X exonic ENSG00000178568.15 . stopgain ENSG00000178568.15:ENST00000342788.9:exon23:c.C2779T:p.R927X 2q34 C3N-00577 8.266e-06 9.632e-05 0 0 0 0 0 0 rs537458255 5.6 . . . . D A . . . 0.974 . . . . . . . . . D D . . 7.474 38 0.997 D N 0.627 6.208 0.481 4.988 0.000 0.554 0.574 0.574 0.568 . 6.160 3.070 1.830 1.176 0.676 0.986 0.998 0.993 476 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV61460348;OCCURENCE=1(oesophagus),3(large_intestine),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(pancreas),1(skin),1(prostate) ERBB4 277 1 227 18 0.073469387755102 TRUE TRUE +ENSG00000163288.14 . BCM GRCh38.p13 chr4 47425857 47425857 + G G A Missense_Mutation SNP ENST00000295454.8 exon9 c.G1264A p.G422R exonic ENSG00000163288.14 . nonsynonymous SNV ENSG00000163288.14:ENST00000295454.8:exon9:c.G1264A:p.G422R 4p12 C3N-00577 8.294e-06 9.737e-05 0 0 0 0 0 0 rs748097369 2.20 T T B B N N N D N 0.051 T T T 0.227 0.482 0.410 0.597 T T T T T T 2.068 19.770 0.940 D N -0.368 1.453 -0.145 1.925 0.005 0.554 0.574 0.618 0.542 . 5.240 5.240 2.525 1.176 0.676 0.994 0.034 0.460 721 Neurotransmitter-gated_ion-channel_transmembrane_domain . . ID=COSV54984293;OCCURENCE=1(skin) GABRB1 195 0 163 29 0.151041666666667 TRUE TRUE +ENSG00000056097.16 . BCM GRCh38.p13 chr5 32444283 32444283 + T T C Missense_Mutation SNP ENST00000265069.13 exon2 c.A83G p.Y28C exonic ENSG00000056097.16 . nonsynonymous SNV ENSG00000056097.16:ENST00000265069.13:exon2:c.A83G:p.Y28C 5p13.3 C3N-00577 . . . . . . . . . 15.20 D D D D D D L T D 0.545 T T D 0.501 0.620 0.440 2.548 D T D D D D 4.189 28.600 0.996 D D 0.481 4.891 0.454 4.766 1.000 0.733 0.522 0.601 0.373 . 4.030 4.030 4.011 1.015 0.516 1.000 1.000 0.999 680 . . . . ZFR 175 0 200 73 0.267399267399267 TRUE TRUE +ENSG00000072364.13 . BCM GRCh38.p13 chr5 132896771 132896771 + G G T Missense_Mutation SNP ENST00000265343.10 exon11 c.C1859A p.S620Y exonic ENSG00000072364.13 . nonsynonymous SNV ENSG00000072364.13:ENST00000265343.10:exon11:c.C1859A:p.S620Y 5q31.1 C3N-00577 . . . . . . . . . 18.20 D D D D D D M T D 0.555 D D D 0.464 0.349 0.521 1.169 T D D D D D 4.057 27.400 0.994 D D 0.870 10.303 0.843 11.513 1.000 0.719 0.725 0.702 0.734 . 5.240 5.240 9.317 1.176 0.676 1.000 0.998 0.997 815 . . . . AFF4 181 0 243 36 0.129032258064516 TRUE NA +ENSG00000164574.16 . BCM GRCh38.p13 chr5 154294898 154294898 + G G A Missense_Mutation SNP ENST00000297107.11 exon2 c.G242A p.R81Q exonic ENSG00000164574.16 . nonsynonymous SNV ENSG00000164574.16:ENST00000297107.11:exon2:c.G242A:p.R81Q 5q33.2 C3N-00577 0.0002 0 0.0004 0 0 1.501e-05 0.0033 0.0007 rs745377742 3.20 T T B B N D L T N 0.270 T T D 0.032 0.362 0.480 0.490 T T T T T T 1.092 12.690 0.961 D N -0.625 0.943 -0.511 1.184 1.000 0.706 0.725 0.710 0.714 . 5.410 2.550 2.168 -0.552 -1.503 1.000 0.010 0.002 265 . . . ID=COSV99768779;OCCURENCE=1(stomach) GALNT10 97 0 145 10 0.0645161290322581 TRUE NA +ENSG00000185372.3 . BCM GRCh38.p13 chr5 181124605 181124605 + C C A Missense_Mutation SNP ENST00000641318.1 exon3 c.G700T p.A234S exonic ENSG00000185372.3 . nonsynonymous SNV ENSG00000185372.3:ENST00000641318.1:exon3:c.G700T:p.A234S 5q35.3 C3N-00577 . . . . . . . . . 0.17 T T . . . N N T N 0.072 T T T 0.034 0.552 0.102 0.022 T T T T T T 0.168 2.770 0.650 N N -0.890 0.532 -1.017 0.469 0.020 0.549 0.627 0.547 0.542 . 4.900 1.850 -0.779 -0.552 -0.657 0.000 0.001 0.015 . GPCR,_rhodopsin-like,_7TM . . . OR2V1 66 0 119 28 0.19047619047619 TRUE TRUE +ENSG00000234127.9 . BCM GRCh38.p13 chr6 30186162 30186162 + G G T Missense_Mutation SNP ENST00000454678.7 exon10 c.C1334A p.S445Y exonic ENSG00000234127.9 . nonsynonymous SNV ENSG00000234127.9:ENST00000454678.7:exon10:c.C1334A:p.S445Y 6p22.1 C3N-00577 . . . . . . . . . 7.20 D D P P N N M T D 0.460 T T D 0.352 0.634 0.328 1.049 T T T T D D 3.839 26.000 0.977 N N 0.637 6.318 0.620 6.478 1.000 0.707 0.702 0.725 0.714 . 5.650 5.650 7.175 1.042 0.606 1.000 0.996 0.949 840 0.000 . . . TRIM26 405 0 386 99 0.204123711340206 TRUE TRUE +ENSG00000204580.13 . BCM GRCh38.p13 chr6 30898173 30898176 + CTAG CTAG - Frame_Shift_Del DEL ENST00000324771.12 exon18 c.2317_2320del p.V774Gfs*13 exonic ENSG00000204580.13 . frameshift deletion ENSG00000204580.13:ENST00000324771.12:exon18:c.2317_2320del:p.V774Gfs*13 6p21.33 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDR1 297 0 224 34 0.131782945736434 TRUE TRUE +ENSG00000137204.14 . BCM GRCh38.p13 chr6 43301250 43301250 + A A G Missense_Mutation SNP ENST00000372585.9 exon6 c.A943G p.S315G exonic ENSG00000137204.14 . nonsynonymous SNV ENSG00000137204.14:ENST00000372585.9:exon6:c.A943G:p.S315G 6p21.1 C3N-00577 . . . . . . . . . 6.20 D T P P N N M T D 0.285 T T D 0.305 0.469 0.823 0.832 T T T T D T 3.313 24.200 0.996 N D 0.195 3.283 0.147 2.935 0.259 0.487 0.547 0.537 0.479 . 4.990 3.840 2.360 1.312 0.756 0.264 0.933 0.899 138 Major_facilitator_superfamily_domain . . . SLC22A7 200 0 141 50 0.261780104712042 TRUE TRUE +ENSG00000065609.14 . BCM GRCh38.p13 chr6 83593208 83593208 + G G A Missense_Mutation SNP ENST00000439399.6 exon19 c.C1748T p.A583V exonic ENSG00000065609.14 . nonsynonymous SNV ENSG00000065609.14:ENST00000439399.6:exon19:c.C1748T:p.A583V 6q14.2 C3N-00577 . . . . . . . . . 6.18 D T . . N D L T N 0.400 T T T 0.158 0.181 0.368 0.371 T T T T D D 2.636 22.700 0.989 D D 0.083 2.821 0.218 3.273 1.000 0.616 0.618 0.616 0.584 . 5.560 5.560 9.253 1.176 0.676 1.000 0.938 0.017 675 . . . . SNAP91 149 0 148 30 0.168539325842697 TRUE TRUE +ENSG00000106113.19 . BCM GRCh38.p13 chr7 30662772 30662772 + A A T Missense_Mutation SNP ENST00000471646.6 exon6 c.T619A p.C207S exonic ENSG00000106113.19 . nonsynonymous SNV ENSG00000106113.19:ENST00000471646.6:exon6:c.T619A:p.C207S 7p14.3 C3N-00577 . . . . . . . . . 13.20 D D D D D D N T D 0.859 T T D 0.416 0.709 0.834 1.003 T T D T D D 3.520 24.800 0.990 D D 0.436 4.577 0.422 4.516 0.915 0.615 0.590 0.659 0.613 . 5.400 4.230 7.417 0.283 -0.100 1.000 0.997 0.988 697 GPCR,_family_2-like . . . CRHR2 173 0 162 36 0.181818181818182 TRUE TRUE +ENSG00000106336.13 . BCM GRCh38.p13 chr7 100600176 100600176 + C C T Missense_Mutation SNP ENST00000241071.11 exon9 c.C1352T p.A451V exonic ENSG00000106336.13 . nonsynonymous SNV ENSG00000106336.13:ENST00000241071.11:exon9:c.C1352T:p.A451V 7q22.1 C3N-00577 . . . . . . . . . 5.20 T T P B N D L T N 0.690 T T D 0.305 0.518 0.756 0.629 T T T T D D 2.605 22.600 0.996 D N -0.142 2.046 -0.016 2.306 1.000 0.660 0.590 0.696 0.542 . 4.440 4.440 3.424 1.007 0.577 1.000 0.992 0.977 . . . . . FBXO24 76 0 83 31 0.271929824561404 TRUE TRUE +ENSG00000189056.14 . BCM GRCh38.p13 chr7 103500804 103500804 + G G A Nonsense_Mutation SNP ENST00000428762.6 exon53 c.C8608T p.Q2870X exonic ENSG00000189056.14 . stopgain ENSG00000189056.14:ENST00000428762.6:exon53:c.C8608T:p.Q2870X 7q22.1 C3N-00577 . . . . . . . . . 5.6 . . . . D A . . . 0.914 . . . . . . . . . D D . . 9.481 50 0.997 D N 1.180 22.040 1.040 21.542 1.000 0.625 0.574 0.618 0.595 . 5.360 5.360 9.602 1.176 0.676 1.000 0.919 0.430 825 EGF-like_domain . . . RELN 141 0 159 44 0.216748768472906 TRUE TRUE +ENSG00000158525.15 . BCM GRCh38.p13 chr7 130363489 130363489 + A A G Missense_Mutation SNP ENST00000485477.5 exon9 c.A818G p.N273S exonic ENSG00000158525.15 . nonsynonymous SNV ENSG00000158525.15:ENST00000485477.5:exon9:c.A818G:p.N273S 7q32.2 C3N-00577 . . . . . . . . . 12.20 D D D D D D M T D 0.879 T T T 0.512 0.897 0.430 0.446 T T T T D D 3.193 23.800 0.996 D D 0.527 5.253 0.554 5.691 1.000 0.428 0.187 0.547 0.613 . 5.830 5.830 7.493 1.312 0.756 1.000 0.997 0.598 623 Peptidase_M14,_carboxypeptidase_A . . . CPA5 140 0 127 45 0.261627906976744 TRUE TRUE +ENSG00000172817.4 . BCM GRCh38.p13 chr8 64615994 64615994 + A A G Missense_Mutation SNP ENST00000310193.4 exon3 c.T547C p.F183L exonic ENSG00000172817.4 . nonsynonymous SNV ENSG00000172817.4:ENST00000310193.4:exon3:c.T547C:p.F183L 8q12.3 C3N-00577 . . . . . . . . . 12.20 D T D P D D L T D 0.902 T T D 0.575 0.801 0.778 0.472 T D D D D T 3.331 24.200 0.998 D D 0.542 5.378 0.486 5.035 1.000 0.554 0.588 0.574 0.564 . 5.320 5.320 6.441 1.312 0.756 1.000 0.499 0.252 770 . . . . CYP7B1 354 0 145 12 0.0764331210191083 TRUE TRUE +ENSG00000169436.17 . BCM GRCh38.p13 chr8 138877965 138877965 + A A - Frame_Shift_Del DEL ENST00000303045.11 exon3 c.443delT p.L148Rfs*81 exonic ENSG00000169436.17 . frameshift deletion ENSG00000169436.17:ENST00000303045.11:exon3:c.443delT:p.L148Rfs*81 8q24.23 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL22A1 106 0 68 51 0.428571428571429 TRUE TRUE +ENSG00000137076.21 . BCM GRCh38.p13 chr9 35710882 35710882 + A A G Missense_Mutation SNP ENST00000314888.10 exon32 c.T4118C p.V1373A exonic ENSG00000137076.21 . nonsynonymous SNV ENSG00000137076.21:ENST00000314888.10:exon32:c.T4118C:p.V1373A 9p13.3 C3N-00577 . . . . . . . . . 12.20 T T P B D D M T D 0.841 T T D 0.365 0.444 0.649 1.549 T D D D D D 2.859 23.100 0.998 D D 0.342 4.005 0.458 4.798 1.000 0.707 0.702 0.725 0.711 . 5.760 5.760 9.217 1.312 0.691 1.000 0.754 0.980 103 . . . . TLN1 128 0 129 40 0.236686390532544 TRUE TRUE +ENSG00000232434.2 . BCM GRCh38.p13 chr9 136847002 136847002 + C C T Missense_Mutation SNP ENST00000436881.2 exon1 c.C2588T p.A863V exonic ENSG00000232434.2 . nonsynonymous SNV ENSG00000232434.2:ENST00000436881.2:exon1:c.C2588T:p.A863V 9q34.3 C3N-00577 . . . . . . . . . 1.16 T T B B . N . . N 0.071 T T D 0.264 0.112 0.014 . . T T T T T 1.171 13.400 0.960 N N -0.728 0.767 -0.602 1.042 1.000 0.421 0.551 0.608 0.555 . 3.140 3.140 3.235 0.930 0.429 0.037 0.864 0.745 970 . . . . AJM1 40 0 69 27 0.28125 TRUE TRUE +ENSG00000078403.17 . BCM GRCh38.p13 chr10 21614893 21614893 + G G A Missense_Mutation SNP ENST00000307729.12 exon7 c.G572A p.C191Y exonic ENSG00000078403.17 . nonsynonymous SNV ENSG00000078403.17:ENST00000307729.12:exon7:c.G572A:p.C191Y 10p12.31 C3N-00577 . . . . . . . . . 16.20 D D D D D D L T D 0.953 T T D 0.507 0.334 0.560 0.546 D D D D D D 4.297 29.500 0.998 D D 0.816 9.104 0.810 10.417 1.000 0.732 0.710 0.710 0.728 . 5.300 5.300 9.757 1.176 0.676 1.000 1.000 0.988 898 Zinc_finger,_PHD-type;Extended_PHD_(ePHD)_domain . . . MLLT10 138 0 74 21 0.221052631578947 TRUE TRUE +ENSG00000266524.3 . BCM GRCh38.p13 chr10 47309973 47309973 + C C T Missense_Mutation SNP ENST00000580279.2 exon2 c.C497T p.P166L exonic ENSG00000266524.3 . nonsynonymous SNV ENSG00000266524.3:ENST00000580279.2:exon2:c.C497T:p.P166L 10q11.22 C3N-00577 . . . . . . . . rs782581244 0.5 . T . . . . . T . 0.149 . . . . . . . . T . . . T 0.276 4.014 . . N . . . . . . . . . . . . -0.640 -0.213 -0.176 0.000 0.000 0.002 976 . . . . GDF10 119 0 120 28 0.189189189189189 TRUE NA +ENSG00000122912.15 . BCM GRCh38.p13 chr10 68488508 68488508 + T T A Missense_Mutation SNP ENST00000609923.6 exon7 c.A732T p.L244F exonic ENSG00000122912.15 . nonsynonymous SNV ENSG00000122912.15:ENST00000609923.6:exon7:c.A732T:p.L244F 10q21.3 C3N-00577 . . . . . . . . . 7.17 . T P P D D L . . 0.789 T T T 0.610 0.587 0.307 0.703 T T D D D D 2.932 23.300 0.998 D N 0.046 2.678 0.061 2.581 0.001 0.732 0.709 0.659 0.728 . 5.990 1.940 2.137 -0.229 -0.719 1.000 0.986 0.327 877 . . . . SLC25A16 93 0 96 21 0.179487179487179 TRUE TRUE +ENSG00000154493.19 . BCM GRCh38.p13 chr10 126504758 126504758 + C C T Missense_Mutation SNP ENST00000284694.11 exon3 c.G442A p.G148S exonic ENSG00000154493.19 . nonsynonymous SNV ENSG00000154493.19:ENST00000284694.11:exon3:c.G442A:p.G148S 10q26.2 C3N-00577 9.15e-06 0 0 0 0 0 0 8.823e-05 rs774093912 3.19 D T D P N N M T N 0.264 T T T 0.093 . 0.269 0.217 . T T T T T 2.115 20.200 0.996 N N -0.143 2.042 -0.340 1.483 0.782 0.487 0.574 0.578 0.564 . 5.100 2.160 0.298 1.026 0.599 0.001 0.209 0.350 609 . . . . C10orf90 33 0 48 17 0.261538461538462 TRUE NA +ENSG00000069696.7 . BCM GRCh38.p13 chr11 639859 639859 + C C T Missense_Mutation SNP ENST00000176183.6 exon3 c.C610T p.P204S exonic ENSG00000069696.7 . nonsynonymous SNV ENSG00000069696.7:ENST00000176183.6:exon3:c.C610T:p.P204S 11p15.5 C3N-00577 . . . . . . . . . 9.15 D D . . D D . T D 0.691 T T D 0.402 0.839 0.735 0.287 T . T T D . 3.695 25.400 0.983 D D 0.054 2.710 -0.067 2.143 1.000 0.583 0.551 0.522 0.621 . 3.030 2.080 5.361 0.759 0.442 1.000 0.987 0.971 929 GPCR,_rhodopsin-like,_7TM . . . DRD4 336 0 214 164 0.433862433862434 TRUE TRUE +ENSG00000175356.13 . BCM GRCh38.p13 chr11 9047407 9047407 + G G A Missense_Mutation SNP ENST00000309263.7 exon15 c.C1864T p.R622C exonic ENSG00000175356.13 . nonsynonymous SNV ENSG00000175356.13:ENST00000309263.7:exon15:c.C1864T:p.R622C 11p15.4 C3N-00577 0.0007 0.0007 0.0004 0 0.0005 0.0010 0.0011 0.0001 rs148718644 4.20 D T P B N N N D N 0.354 T T D 0.191 . 0.850 0.634 T T T T T D 2.614 22.700 0.998 N N -0.238 1.771 -0.270 1.628 1.000 0.616 0.574 0.575 0.542 . 5.370 3.480 2.196 1.176 0.676 0.082 0.388 0.946 539 . . . ID=COSV99069244;OCCURENCE=2(lung) SCUBE2 330 0 242 156 0.391959798994975 TRUE NA +ENSG00000197786.3 . BCM GRCh38.p13 chr11 58358538 58358538 + C C T Missense_Mutation SNP ENST00000357377.3 exon1 c.G532A p.D178N exonic ENSG00000197786.3 . nonsynonymous SNV ENSG00000197786.3:ENST00000357377.3:exon1:c.G532A:p.D178N 11q12.1 C3N-00577 . . . . . . . . . 9.20 D D P P U D H T D 0.309 T T T 0.129 0.576 0.421 0.025 T T T T D D 3.025 23.500 0.999 D D 0.429 4.527 0.262 3.504 0.966 0.487 0.574 0.574 0.530 . 3.270 3.270 3.214 0.844 0.439 1.000 0.878 0.150 259 GPCR,_rhodopsin-like,_7TM . . . OR5B17 89 0 70 10 0.125 TRUE TRUE +ENSG00000109927.10 . BCM GRCh38.p13 chr11 121127997 121127997 + C C A Missense_Mutation SNP ENST00000392793.5 exon9 c.C2020A p.Q674K exonic ENSG00000109927.10 . nonsynonymous SNV ENSG00000109927.10:ENST00000392793.5:exon9:c.C2020A:p.Q674K 11q23.3 C3N-00577 . . . . . . . . . 4.20 T T B B D D L T N 0.410 T T T 0.055 0.597 0.390 0.447 T T T T T T 2.038 19.550 0.983 D D 0.009 2.543 0.200 3.184 1.000 0.516 0.610 0.574 0.564 . 5.370 5.370 1.115 1.024 0.598 1.000 0.997 0.991 778 TILa_domain;VWFC_domain . . . TECTA 128 0 171 22 0.113989637305699 TRUE TRUE +ENSG00000129317.14 . BCM GRCh38.p13 chr12 43736660 43736660 + C C A Missense_Mutation SNP ENST00000344862.9 exon7 c.G1446T p.E482D exonic ENSG00000129317.14 . nonsynonymous SNV ENSG00000129317.14:ENST00000344862.9:exon7:c.G1446T:p.E482D 12q12 C3N-00577 . . . . . . . . . 2.20 T T B B N D L T N 0.207 T T T 0.080 0.353 0.296 0.031 T T T T T T 1.359 14.800 0.972 D N -0.344 1.509 -0.137 1.944 1.000 0.706 0.654 0.710 0.714 . 5.110 5.110 0.579 1.026 0.549 0.999 0.998 0.591 622 Pseudouridine_synthase,_TruD,_insertion_domain . . . PUS7L 60 0 97 7 0.0673076923076923 TRUE TRUE +ENSG00000167588.13 . BCM GRCh38.p13 chr12 50104067 50104067 + T T A Missense_Mutation SNP ENST00000301149.8 exon1 c.T17A p.V6D exonic ENSG00000167588.13 . nonsynonymous SNV ENSG00000167588.13:ENST00000301149.8:exon1:c.T17A:p.V6D 12q13.12 C3N-00577 . . . . . . . . . 18.20 D D D D D D H T D 0.879 D D D 0.653 0.756 0.885 0.858 T D D D D D 4.088 27.600 0.985 D D 0.889 10.760 0.807 10.330 1.000 0.495 0.551 0.535 0.646 . 5.710 5.710 3.564 1.138 0.665 1.000 1.000 1.000 223 Glycerol-3-phosphate_dehydrogenase,_NAD-dependent,_N-terminal . . . GPD1 226 0 172 106 0.381294964028777 TRUE TRUE +ENSG00000197706.3 . BCM GRCh38.p13 chr12 55247430 55247430 + - NA A Frame_Shift_Ins INS ENST00000343870.4 exon1 c.144dupA p.L49Tfs*34 exonic ENSG00000197706.3 . frameshift insertion ENSG00000197706.3:ENST00000343870.4:exon1:c.144dupA:p.L49Tfs*34 12q13.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR6C74 NA NA NA NA NA NA NA +ENSG00000123329.20 . BCM GRCh38.p13 chr12 57478651 57478651 + C C G Missense_Mutation SNP ENST00000393797.7 exon6 c.G423C p.R141S exonic ENSG00000123329.20 . nonsynonymous SNV ENSG00000123329.20:ENST00000393797.7:exon6:c.G423C:p.R141S 12q13.3 C3N-00577 . . . . . . . . . 4.20 D D P P N N M T D 0.593 T T T 0.109 0.209 0.751 0.069 T T T T T T 1.950 18.880 0.990 N N -0.227 1.802 -0.278 1.610 1.000 0.628 0.672 0.576 0.530 . 4.490 2.130 0.505 0.179 -0.181 1.000 0.261 0.052 332 . . . ID=COSV100712545;OCCURENCE=1(upper_aerodigestive_tract) ARHGAP9 182 0 238 19 0.0739299610894942 TRUE TRUE +ENSG00000089225.20 . BCM GRCh38.p13 chr12 114401856 114401856 + C C - Frame_Shift_Del DEL ENST00000405440.7 exon3 c.212delG p.G71Afs*4 exonic ENSG00000089225.20 . frameshift deletion ENSG00000089225.20:ENST00000405440.7:exon3:c.212delG:p.G71Afs*4 12q24.21 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBX5 497 0 340 164 0.325396825396825 TRUE TRUE +ENSG00000100908.14 . BCM GRCh38.p13 chr14 24139380 24139385 + CCAGCG CCAGCG - In_Frame_Del DEL ENST00000216799.9 exon5 c.415_420del p.R139_W140del exonic ENSG00000100908.14 . nonframeshift deletion ENSG00000100908.14:ENST00000216799.9:exon5:c.415_420del:p.R139_W140del 14q12 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EMC9 156 0 131 25 0.16025641025641 TRUE TRUE +ENSG00000100949.14 . BCM GRCh38.p13 chr14 24270925 24270925 + G G T Missense_Mutation SNP ENST00000399409.7 exon2 c.C26A p.T9K exonic ENSG00000100949.14 . nonsynonymous SNV ENSG00000100949.14:ENST00000399409.7:exon2:c.C26A:p.T9K 14q12 C3N-00577 . . . . . . . . . 14.19 D D D B D D M T D 0.453 T T D 0.333 0.285 0.624 0.448 D D D T D . 4.233 29.000 0.989 D D 0.638 6.329 0.663 7.121 1.000 0.726 0.522 0.594 0.639 . 5.540 5.540 6.849 1.176 0.676 1.000 0.997 0.998 871 . . . . RABGGTA 152 0 150 32 0.175824175824176 TRUE TRUE +ENSG00000179938.12 . BCM GRCh38.p13 chr15 30084837 30084837 + A A T Missense_Mutation SNP ENST00000567927.1 exon2 c.A115T p.N39Y exonic ENSG00000179938.12 . nonsynonymous SNV ENSG00000179938.12:ENST00000567927.1:exon2:c.A115T:p.N39Y 15q13.2 C3N-00577 . . . . . . . . . 6.14 D D D D . N M T D 0.323 . . T . . 0.494 2.720 . T T T . . 2.643 22.700 0.984 N N . . . . 0.000 0.487 0.574 0.574 0.564 . 1.490 1.490 1.341 1.060 0.261 1.000 0.025 0.065 483 . . . . GOLGA8J 85 0 67 52 0.436974789915966 NA TRUE +ENSG00000103569.10 . BCM GRCh38.p13 chr15 58175021 58175021 + C C G Missense_Mutation SNP ENST00000219919.9 exon4 c.C480G p.N160K exonic ENSG00000103569.10 . nonsynonymous SNV ENSG00000103569.10:ENST00000219919.9:exon4:c.C480G:p.N160K 15q21.3 C3N-00577 . . . . . . . . . 12.20 D T P P N D M D D 0.665 T D D 0.381 0.446 0.846 0.053 T D T T D D 2.981 23.400 0.993 D D -0.005 2.495 -0.014 2.311 0.996 0.487 0.590 0.574 0.613 . 5.160 2.850 1.116 0.204 -0.169 1.000 0.283 0.955 937 . . . . AQP9 148 0 89 68 0.43312101910828 TRUE TRUE +ENSG00000140332.17 . BCM GRCh38.p13 chr15 70096185 70096197 + TGGAATTCGTCTT TGGAATTCGTCTT - Frame_Shift_Del DEL ENST00000558939.5 exon2 c.89_101del p.K30Sfs*29 exonic ENSG00000140332.17 . frameshift deletion ENSG00000140332.17:ENST00000558939.5:exon2:c.89_101del:p.K30Sfs*29 15q23 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLE3 169 1 93 75 0.446428571428571 TRUE TRUE +ENSG00000089486.17 . BCM GRCh38.p13 chr16 4512965 4512965 + G G A Missense_Mutation SNP ENST00000567695.6 exon5 c.C341T p.T114I exonic ENSG00000089486.17 . nonsynonymous SNV ENSG00000089486.17:ENST00000567695.6:exon5:c.C341T:p.T114I 16p13.3 C3N-00577 . . . . . . . . . 16.20 D T D P D D M D D 0.782 T D D 0.538 0.376 0.647 0.309 D T D D D D 3.372 24.300 0.997 D D 0.537 5.333 0.639 6.754 1.000 0.707 0.577 0.702 0.714 . 5.950 5.950 8.983 1.176 0.676 1.000 0.998 0.995 506 . . . . CDIP1 316 1 407 63 0.134042553191489 TRUE TRUE +ENSG00000126351.13 . BCM GRCh38.p13 chr17 40093021 40093021 + A A T Missense_Mutation SNP ENST00000264637.8 exon10 c.A1112T p.E371V exonic ENSG00000126351.13 . nonsynonymous SNV ENSG00000126351.13:ENST00000264637.8:exon10:c.A1112T:p.E371V 17q21.1 C3N-00577 . . . . . . . . . 6.20 T T B B U D N D N 0.616 T T D 0.424 0.531 0.912 1.192 T T D D T T 2.288 21.500 0.852 D N -0.465 1.246 -0.202 1.780 1.000 0.732 0.744 0.710 0.714 . 4.900 3.790 3.974 1.312 0.756 1.000 1.000 1.000 187 Nuclear_hormone_receptor,_ligand-binding_domain . . . THRA 119 1 151 43 0.221649484536082 TRUE TRUE +ENSG00000183034.13 . BCM GRCh38.p13 chr17 74927230 74927230 + T T A Missense_Mutation SNP ENST00000331427.9 exon4 c.T458A p.F153Y exonic ENSG00000183034.13 . nonsynonymous SNV ENSG00000183034.13:ENST00000331427.9:exon4:c.T458A:p.F153Y 17q25.1 C3N-00577 . . . . . . . . . 9.20 D T D D D D M T N 0.683 T T T 0.311 0.668 0.197 0.714 T T T T D T 3.955 26.700 0.997 D D 0.641 6.369 0.608 6.327 1.000 0.549 0.563 0.590 0.530 . 4.960 4.960 7.037 1.138 0.665 1.000 1.000 0.971 923 . . . . OTOP2 205 0 275 57 0.171686746987952 TRUE TRUE +ENSG00000118620.13 . BCM GRCh38.p13 chr19 21057545 21057545 + T T C Missense_Mutation SNP ENST00000261560.10 exon5 c.T1237C p.S413P exonic ENSG00000118620.13 . nonsynonymous SNV ENSG00000118620.13:ENST00000261560.10:exon5:c.T1237C:p.S413P 19p12 C3N-00577 . . . . . . . . . 1.19 T T B B . N L T D 0.129 T T T 0.047 0.428 0.081 0.176 T T T T T T 0.033 1.558 0.919 N N -1.026 0.377 -1.189 0.292 0.000 0.707 0.725 0.659 0.636 . 1.050 -0.099 -6.147 -0.206 0.572 0.000 0.002 0.001 988 Zinc_finger_C2H2-type . . . ZNF430 134 0 64 23 0.264367816091954 NA TRUE +ENSG00000160439.16 . BCM GRCh38.p13 chr19 55048718 55048718 + C C A Missense_Mutation SNP ENST00000415061.8 exon4 c.G386T p.R129L exonic ENSG00000160439.16 . nonsynonymous SNV ENSG00000160439.16:ENST00000415061.8:exon4:c.G386T:p.R129L 19q13.42 C3N-00577 . . . . . . . . . 12.19 T T D D D D N D D 0.455 T D D 0.518 0.708 0.814 0.406 T T D T D . 2.819 23.100 0.994 D D 0.229 3.435 0.288 3.647 1.000 0.737 0.702 0.733 0.714 . 5.180 5.180 3.142 1.008 0.549 0.993 0.998 0.738 982 . . . . RDH13 210 1 172 90 0.343511450381679 TRUE TRUE +ENSG00000197016.12 . BCM GRCh38.p13 chr19 56577618 56577618 + T T A Missense_Mutation SNP ENST00000330619.13 exon6 c.T1189A p.F397I exonic ENSG00000197016.12 . nonsynonymous SNV ENSG00000197016.12:ENST00000330619.13:exon6:c.T1189A:p.F397I 19q13.43 C3N-00577 . . . . . . . . . 9.19 D D D D . N M T D 0.376 T T T 0.215 0.582 0.555 0.101 T T T T D T 3.526 24.800 0.990 D D 0.610 6.028 0.499 5.154 0.661 0.563 0.574 0.609 0.421 . 4.240 4.240 3.362 1.129 0.648 0.190 0.990 0.977 988 Zinc_finger_C2H2-type . . . ZNF470 122 0 101 34 0.251851851851852 TRUE TRUE +ENSG00000124160.12 . BCM GRCh38.p13 chr20 46068560 46068560 + - NA T Nonsense_Mutation SNP ENST00000290231.11 exon4 c.443dupA p.Y148* exonic ENSG00000124160.12 . stopgain ENSG00000124160.12:ENST00000290231.11:exon4:c.443dupA:p.Y148* 20q13.12 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCOA5 NA NA NA NA NA NA NA +ENSG00000156299.13 . BCM GRCh38.p13 chr21 31217674 31217674 + C C A Missense_Mutation SNP ENST00000286827.7 exon10 c.G2021T p.G674V exonic ENSG00000156299.13 . nonsynonymous SNV ENSG00000156299.13:ENST00000286827.7:exon10:c.G2021T:p.G674V 21q22.11 C3N-00577 . . . . . . . . . 12.20 D D D P D D L T N 0.879 T T T 0.235 0.242 0.708 1.435 D T D D D D 3.938 26.600 0.998 D D 0.721 7.422 0.730 8.357 1.000 0.706 0.588 0.710 0.564 . 5.410 5.410 5.903 1.026 0.599 1.000 0.991 0.984 866 . . . . TIAM1 83 1 71 31 0.303921568627451 TRUE TRUE +ENSG00000185960.14 . BCM GRCh38.p13 chrX 644523 644523 + T T C Missense_Mutation SNP ENST00000381578.6 exon6 c.T766C p.S256P exonic ENSG00000185960.14 . nonsynonymous SNV ENSG00000185960.14:ENST00000381578.6:exon6:c.T766C:p.S256P Xp22.33 C3N-00577 . . . . . . . . . 4.19 T T P B U N N D N 0.219 T T D 0.352 0.139 0.883 0.727 D T D T T T 2.316 21.700 0.909 N . . . . . 0.996 . . . . . 1.720 1.720 1.990 0.809 0.555 0.849 0.999 0.994 1000 . . . . SHOX 309 0 331 123 0.270925110132159 TRUE TRUE +ENSG00000077274.9 . BCM GRCh38.p13 chrX 111252353 111252353 + A A T Missense_Mutation SNP ENST00000324068.2 exon5 c.T653A p.L218Q exonic ENSG00000077274.9 . nonsynonymous SNV ENSG00000077274.9:ENST00000324068.2:exon5:c.T653A:p.L218Q Xq23 C3N-00577 . . . . . . . . . 15.19 D D D D D D H T D 0.826 D T D 0.762 0.816 0.927 1.319 T D D D D T 3.595 25.000 0.996 D . . . . . 1.000 . . . . . 5.970 5.970 6.976 1.311 0.754 1.000 0.999 0.996 854 Peptidase_C2,_calpain,_catalytic_domain . . . CAPN6 49 0 55 25 0.3125 NA TRUE +ENSG00000185519.9 . BCM GRCh38.p13 chr1 16058719 16058719 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000185519.9 ENST00000375662.5:exon7:c.563-2A>T . . 1p36.13 C3N-00577 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.986 33 0.992 D . 0.852 9.878 0.663 7.110 0.616 0.096 0.060 0.072 0.109 0.769 4.800 4.800 1.344 0.205 0.660 0.936 0.696 0.418 561 . . . . FAM131C 116 0 132 30 0.185185185185185 NA TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52550745 52550745 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000163939.18 ENST00000296302.11:exon28:c.4680+2T>C . . 3p21.1 C3N-00577 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.554 32 0.984 D . 1.095 17.306 0.956 16.363 1.000 0.156 0.156 0.138 0.118 0.974 5.930 5.930 5.561 1.312 0.756 1.000 0.983 0.956 46 . . . . PBRM1 108 0 57 63 0.525 TRUE TRUE +ENSG00000080802.18 . BCM GRCh38.p13 chr7 135410514 135410514 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000080802.18 ENST00000315544.6:exon7:c.821+1G>A . . 7q33 C3N-00577 1.662e-05 0 0 0 0 3.006e-05 0 0 rs759685984 3.4 . . . . . D . . . . . . . . . . . . . D D . . 4.092 27.700 0.959 N . 0.843 9.677 0.647 6.862 1.000 0.164 0.157 0.060 0.118 0.841 5.420 3.510 0.087 1.026 0.599 0.968 1.000 0.996 678 . . . ID=COSV59650961;OCCURENCE=1(large_intestine) CNOT4 102 0 22 9 0.290322580645161 TRUE TRUE +ENSG00000162571.14 . BCM GRCh38.p13 chr1 1185031 1185031 + A A G Silent SNP ENST00000379289.6 exon13 c.A1323G p.E441E exonic ENSG00000162571.14 . synonymous SNV ENSG00000162571.14:ENST00000379289.6:exon13:c.A1323G:p.E441E 1p36.33 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64959720;OCCURENCE=1(stomach) TTLL10 246 0 277 24 0.079734219269103 TRUE TRUE +ENSG00000215912.12 . BCM GRCh38.p13 chr1 2645434 2645434 + G G A Silent SNP ENST00000637179.1 exon5 c.C817T p.L273L exonic ENSG00000215912.12 . synonymous SNV ENSG00000215912.12:ENST00000637179.1:exon5:c.C817T:p.L273L 1p36.32 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC34 135 0 155 40 0.205128205128205 TRUE TRUE +ENSG00000215788.10 . BCM GRCh38.p13 chr1 6462037 6462037 + C C T Silent SNP ENST00000356876.7 exon9 c.G882A p.P294P exonic ENSG00000215788.10 . synonymous SNV ENSG00000215788.10:ENST00000356876.7:exon9:c.G882A:p.P294P 1p36.31 C3N-00577 8.297e-06 0 0 0.0001 0 0 0 0 rs758622492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61068174;OCCURENCE=2(large_intestine) TNFRSF25 84 0 150 14 0.0853658536585366 TRUE TRUE +ENSG00000115464.15 . BCM GRCh38.p13 chr2 61221601 61221601 + G G T Silent SNP ENST00000398571.7 exon66 c.C7800A p.A2600A exonic ENSG00000115464.15 . synonymous SNV ENSG00000115464.15:ENST00000398571.7:exon66:c.C7800A:p.A2600A 2p15 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP34 143 0 67 66 0.496240601503759 TRUE TRUE +ENSG00000116039.13 . BCM GRCh38.p13 chr2 70965061 70965061 + C C T Silent SNP ENST00000234396.10 exon14 c.C1482T p.I494I exonic ENSG00000116039.13 . synonymous SNV ENSG00000116039.13:ENST00000234396.10:exon14:c.C1482T:p.I494I 2p13.3 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP6V1B1 339 0 417 50 0.107066381156317 TRUE TRUE +ENSG00000213337.9 . BCM GRCh38.p13 chr2 96853545 96853545 + A A C Silent SNP ENST00000393537.5 exon3 c.T264G p.A88A exonic ENSG00000213337.9 . synonymous SNV ENSG00000213337.9:ENST00000393537.5:exon3:c.T264G:p.A88A 2q11.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD39 398 0 242 244 0.502057613168724 TRUE TRUE +ENSG00000123636.18 . BCM GRCh38.p13 chr2 159382646 159382646 + G G A Silent SNP ENST00000392783.7 exon25 c.C3918T p.D1306D exonic ENSG00000123636.18 . synonymous SNV ENSG00000123636.18:ENST00000392783.7:exon25:c.C3918T:p.D1306D 2q24.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAZ2B 343 0 369 34 0.0843672456575682 TRUE TRUE +ENSG00000182903.16 . BCM GRCh38.p13 chr4 441962 441962 + T T C Silent SNP ENST00000338977.5 exon2 c.A2469G p.K823K exonic ENSG00000182903.16 . synonymous SNV ENSG00000182903.16:ENST00000338977.5:exon2:c.A2469G:p.K823K 4p16.3 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF721 221 0 88 20 0.185185185185185 NA TRUE +ENSG00000121207.12 . BCM GRCh38.p13 chr4 154749058 154749058 + T T C Silent SNP ENST00000336356.4 exon3 c.T615C p.S205S exonic ENSG00000121207.12 . synonymous SNV ENSG00000121207.12:ENST00000336356.4:exon3:c.T615C:p.S205S 4q32.1 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRAT 274 0 166 61 0.268722466960352 TRUE TRUE +ENSG00000164362.21 . BCM GRCh38.p13 chr5 1254396 1254396 + G G A Silent SNP ENST00000310581.10 exon15 c.C3267T p.Y1089Y exonic ENSG00000164362.21 . synonymous SNV ENSG00000164362.21:ENST00000310581.10:exon15:c.C3267T:p.Y1089Y 5p15.33 C3N-00577 2.514e-05 0 8.666e-05 0 0 3.049e-05 0 0 rs759883263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99716060;OCCURENCE=1(large_intestine) TERT 277 0 475 60 0.11214953271028 TRUE NA +ENSG00000232040.4 . BCM GRCh38.p13 chr6 28573222 28573222 + G G C Silent SNP ENST00000452236.3 exon4 c.C2667G p.L889L exonic ENSG00000232040.4 . synonymous SNV ENSG00000232040.4:ENST00000452236.3:exon4:c.C2667G:p.L889L 6p22.1 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBED9 248 0 209 13 0.0585585585585586 TRUE TRUE +ENSG00000257923.11 . BCM GRCh38.p13 chr7 101916141 101916141 + A A G Silent SNP ENST00000292535.12 exon2 c.A57G p.V19V exonic ENSG00000257923.11 . synonymous SNV ENSG00000257923.11:ENST00000292535.12:exon2:c.A57G:p.V19V 7q22.1 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUX1 214 0 211 58 0.215613382899628 TRUE NA +ENSG00000005483.21 . BCM GRCh38.p13 chr7 105112589 105112589 + C C T Silent SNP ENST00000311117.8 exon27 c.C4833T p.P1611P exonic ENSG00000005483.21 . synonymous SNV ENSG00000005483.21:ENST00000311117.8:exon27:c.C4833T:p.P1611P 7q22.3 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2E 267 0 302 65 0.177111716621253 TRUE NA +ENSG00000147509.14 . BCM GRCh38.p13 chr8 53879266 53879266 + G G A Silent SNP ENST00000297313.8 exon2 c.G174A p.P58P exonic ENSG00000147509.14 . synonymous SNV ENSG00000147509.14:ENST00000297313.8:exon2:c.G174A:p.P58P 8q11.23 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52020210;OCCURENCE=3(large_intestine) RGS20 188 0 102 67 0.396449704142012 TRUE TRUE +ENSG00000138315.13 . BCM GRCh38.p13 chr10 72898914 72898914 + T T C Silent SNP ENST00000334011.10 exon2 c.T312C p.A104A exonic ENSG00000138315.13 . synonymous SNV ENSG00000138315.13:ENST00000334011.10:exon2:c.T312C:p.A104A 10q22.1 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OIT3 185 0 163 41 0.200980392156863 TRUE TRUE +ENSG00000172457.6 . BCM GRCh38.p13 chr11 56743116 56743116 + G G A Silent SNP ENST00000302957.4 exon1 c.C696T p.S232S exonic ENSG00000172457.6 . synonymous SNV ENSG00000172457.6:ENST00000302957.4:exon1:c.C696T:p.S232S 11q12.1 C3N-00577 4.942e-05 0.0005 8.639e-05 0 0 0 0 0 rs147926428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR9G4 237 0 308 36 0.104651162790698 TRUE NA +ENSG00000111181.12 . BCM GRCh38.p13 chr12 198863 198863 + A A G Silent SNP ENST00000424061.6 exon9 c.T780C p.L260L exonic ENSG00000111181.12 . synonymous SNV ENSG00000111181.12:ENST00000424061.6:exon9:c.T780C:p.L260L 12p13.33 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC6A12 236 0 287 51 0.150887573964497 TRUE TRUE +ENSG00000170605.6 . BCM GRCh38.p13 chr12 55130231 55130231 + C C T Silent SNP ENST00000305377.5 exon1 c.C463T p.L155L exonic ENSG00000170605.6 . synonymous SNV ENSG00000170605.6:ENST00000305377.5:exon1:c.C463T:p.L155L 12q13.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR9K2 163 0 226 55 0.195729537366548 TRUE TRUE +ENSG00000139865.16 . BCM GRCh38.p13 chr14 37823901 37823901 + C C T Silent SNP ENST00000476979.5 exon9 c.C820T p.L274L exonic ENSG00000139865.16 . synonymous SNV ENSG00000139865.16:ENST00000476979.5:exon9:c.C820T:p.L274L 14q21.1 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC6 259 0 131 26 0.165605095541401 TRUE TRUE +ENSG00000169375.16 . BCM GRCh38.p13 chr15 75422713 75422713 + C C T Silent SNP ENST00000394947.8 exon3 c.G300A p.Q100Q exonic ENSG00000169375.16 . synonymous SNV ENSG00000169375.16:ENST00000394947.8:exon3:c.G300A:p.Q100Q 15q24.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIN3A 286 0 273 58 0.175226586102719 TRUE TRUE +ENSG00000136378.15 . BCM GRCh38.p13 chr15 78796635 78796635 + G G A Silent SNP ENST00000388820.5 exon4 c.C774T p.H258H exonic ENSG00000136378.15 . synonymous SNV ENSG00000136378.15:ENST00000388820.5:exon4:c.C774T:p.H258H 15q25.1 C3N-00577 3.301e-05 9.617e-05 0 0 0 4.505e-05 0 0 rs147638049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66306487;OCCURENCE=2(large_intestine) ADAMTS7 116 0 101 14 0.121739130434783 TRUE TRUE +ENSG00000099381.18 . BCM GRCh38.p13 chr16 30964177 30964177 + C C A Silent SNP ENST00000262519.14 exon6 c.C723A p.T241T exonic ENSG00000099381.18 . synonymous SNV ENSG00000099381.18:ENST00000262519.14:exon6:c.C723A:p.T241T 16p11.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETD1A 342 0 350 142 0.288617886178862 TRUE TRUE +ENSG00000167716.18 . BCM GRCh38.p13 chr17 1726057 1726057 + G G C Silent SNP ENST00000409644.5 exon1 c.G1098C p.L366L exonic ENSG00000167716.18 . synonymous SNV ENSG00000167716.18:ENST00000409644.5:exon1:c.G1098C:p.L366L 17p13.3 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR81 49 0 49 28 0.363636363636364 TRUE TRUE +ENSG00000132361.17 . BCM GRCh38.p13 chr17 2696438 2696438 + T T C Silent SNP ENST00000570628.6 exon12 c.A2169G p.S723S exonic ENSG00000132361.17 . synonymous SNV ENSG00000132361.17:ENST00000570628.6:exon12:c.A2169G:p.S723S 17p13.3 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLUH 100 0 136 56 0.291666666666667 TRUE TRUE +ENSG00000212722.7 . BCM GRCh38.p13 chr17 41105973 41105973 + C C G Silent SNP ENST00000391415.1 exon1 c.C585G p.V195V exonic ENSG00000212722.7 . synonymous SNV ENSG00000212722.7:ENST00000391415.1:exon1:c.C585G:p.V195V 17q21.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRTAP4-9 168 0 261 43 0.141447368421053 NA TRUE +ENSG00000104980.8 . BCM GRCh38.p13 chr19 7934194 7934194 + C C T Silent SNP ENST00000270538.8 exon5 c.G438A p.K146K exonic ENSG00000104980.8 . synonymous SNV ENSG00000104980.8:ENST00000270538.8:exon5:c.G438A:p.K146K 19p13.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TIMM44 316 0 276 163 0.37129840546697 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8965439 8965439 + G G C Silent SNP ENST00000397910.8 exon3 c.C11331G p.P3777P exonic ENSG00000181143.15 . synonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.C11331G:p.P3777P 19p13.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC16 98 0 102 42 0.291666666666667 TRUE TRUE +ENSG00000196218.13 . BCM GRCh38.p13 chr19 38537896 38537896 + G G A Silent SNP ENST00000359596.8 exon84 c.G11625A p.A3875A exonic ENSG00000196218.13 . synonymous SNV ENSG00000196218.13:ENST00000359596.8:exon84:c.G11625A:p.A3875A 19q13.2 C3N-00577 0.0032 0.0330 0.0020 0 0 0.0001 0.0022 0.0008 rs61729397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62104969;OCCURENCE=1(urinary_tract) RYR1 275 0 403 24 0.0562060889929742 TRUE TRUE +ENSG00000179213.13 . BCM GRCh38.p13 chr19 51265525 51265525 + C C T Silent SNP ENST00000316401.11 exon3 c.C180T p.T60T exonic ENSG00000179213.13 . synonymous SNV ENSG00000179213.13:ENST00000316401.11:exon3:c.C180T:p.T60T 19q13.41 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIGLECL1 201 0 168 136 0.447368421052632 TRUE TRUE +ENSG00000105492.16 . BCM GRCh38.p13 chr19 51531271 51531271 + G G A Silent SNP ENST00000425629.8 exon2 c.C316T p.L106L exonic ENSG00000105492.16 . synonymous SNV ENSG00000105492.16:ENST00000425629.8:exon2:c.C316T:p.L106L 19q13.41 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIGLEC6 114 0 175 10 0.0540540540540541 TRUE TRUE +ENSG00000242019.1 . BCM GRCh38.p13 chr19 54725269 54725269 + C C T Silent SNP ENST00000291860.1 exon2 c.C57T p.P19P exonic ENSG00000242019.1 . synonymous SNV ENSG00000242019.1:ENST00000291860.1:exon2:c.C57T:p.P19P 19q13.42 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIR3DL3 31 0 35 16 0.313725490196078 TRUE TRUE +ENSG00000100393.14 . BCM GRCh38.p13 chr22 41168459 41168459 + T T C Silent SNP ENST00000263253.9 exon24 c.T3885C p.S1295S exonic ENSG00000100393.14 . synonymous SNV ENSG00000100393.14:ENST00000263253.9:exon24:c.T3885C:p.S1295S 22q13.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EP300 353 0 275 117 0.298469387755102 TRUE TRUE +ENSG00000173221.14 . BCM GRCh38.p13 chr5 95823891 95823891 + C C A IGR SNP NA NA NA NA intergenic ENSG00000173221.14;ENSG00000251000.1 dist=1165;dist=10533 . . 5q15 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLRX 170 0 181 103 0.362676056338028 TRUE NA +ENSG00000281832.1 . BCM GRCh38.p13 chr6 165988619 165988619 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000281832.1 . . . 6q27 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00602 77 0 108 28 0.205882352941176 TRUE NA +ENSG00000251562.8 . BCM GRCh38.p13 chr11 65506110 65506110 + A A G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000251562.8 . . . 11q13.1 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 11 0 11 10 0.476190476190476 TRUE NA +ENSG00000125207.7 . BCM GRCh38.p13 chr12 130371340 130371340 + G G C Intron SNP NA NA NA NA intronic ENSG00000125207.7 . . . 12q24.33 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIWIL1 111 0 121 76 0.385786802030457 TRUE NA +ENSG00000235085.3 . BCM GRCh38.p13 chr17 4675744 4675744 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000235085.3 . . . 17p13.2 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC091153.2 398 0 422 168 0.284745762711864 TRUE NA +ENSG00000207947.3 . BCM GRCh38.p13 chr17 48037183 48037183 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207947.3 . . . 17q21.32 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR152 61 0 72 29 0.287128712871287 TRUE NA +ENSG00000266933.2 . BCM GRCh38.p13 chr19 500050 500050 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000266933.2 . . . 19p13.3 C3N-00577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC005775.1 229 0 272 63 0.188059701492537 TRUE NA +ENSG00000162374.18 . BCM GRCh38.p13 chr1 50195744 50195744 + G G A Missense_Mutation SNP ENST00000371821.6 exon5 c.G707A p.R236Q exonic ENSG00000162374.18 . nonsynonymous SNV ENSG00000162374.18:ENST00000371821.6:exon5:c.G707A:p.R236Q 1p33 C3N-00646 . . . . . . . . . 10.20 D T D P D D M T D 0.621 T T T 0.398 0.416 0.726 1.153 T T T T D D 3.823 25.900 0.999 D D 0.550 5.447 0.668 7.200 1.000 0.554 0.563 0.618 0.564 . 6.110 6.110 9.602 1.176 0.676 1.000 1.000 0.998 571 . . . ID=COSV63914597;OCCURENCE=1(large_intestine),1(stomach),1(skin) ELAVL4 240 1 336 23 0.064066852367688 TRUE TRUE +ENSG00000132849.20 . BCM GRCh38.p13 chr1 61875354 61875354 + A A C Missense_Mutation SNP ENST00000371158.6 exon21 c.A2947C p.S983R exonic ENSG00000132849.20 . nonsynonymous SNV ENSG00000132849.20:ENST00000371158.6:exon21:c.A2947C:p.S983R 1p31.3 C3N-00646 . . . . . . . . . 3.20 D T P B N N M T N 0.496 T T T 0.098 0.268 0.629 0.267 T T T T T D 2.318 21.700 0.996 N N 0.001 2.515 -0.006 2.338 0.000 0.707 0.634 0.725 0.621 . 5.160 1.360 1.084 1.312 0.756 0.985 0.999 0.994 904 . . . . PATJ 146 0 90 13 0.12621359223301 TRUE TRUE +ENSG00000117054.14 . BCM GRCh38.p13 chr1 75732725 75732725 + A A G Missense_Mutation SNP ENST00000370841.9 exon3 c.A200G p.Y67C exonic ENSG00000117054.14 . nonsynonymous SNV ENSG00000117054.14:ENST00000370841.9:exon3:c.A200G:p.Y67C 1p31.1 C3N-00646 . . . . . . . . rs796051897 18.20 D T D D D D M D D 0.824 D D D 0.872 0.465 0.999 0.456 T D D D D D 3.587 25.000 0.996 D D 0.643 6.396 0.679 7.383 1.000 0.732 0.744 0.710 0.728 . 5.570 5.570 6.956 1.312 0.756 1.000 1.000 0.999 761 Acyl-CoA_dehydrogenase/oxidase,_N-terminal . . . ACADM 325 0 191 11 0.0544554455445545 TRUE NA +ENSG00000137941.17 . BCM GRCh38.p13 chr1 83949974 83949974 + A A C Missense_Mutation SNP ENST00000260505.13 exon4 c.T170G p.I57R exonic ENSG00000137941.17 . nonsynonymous SNV ENSG00000137941.17:ENST00000260505.13:exon4:c.T170G:p.I57R 1p31.1 C3N-00646 . . . . . . . . . 13.20 T D D P D D M T N 0.923 T T D 0.344 0.753 0.470 1.707 D T D D D D 3.812 25.900 0.987 D D 0.574 5.666 0.583 6.022 0.963 0.554 0.574 0.602 0.621 . 5.260 5.260 5.891 1.312 0.756 1.000 1.000 0.993 927 . . . . TTLL7 124 0 43 4 0.0851063829787234 NA TRUE +ENSG00000067208.14 . BCM GRCh38.p13 chr1 92625865 92625865 + T T C Missense_Mutation SNP ENST00000370331.5 exon13 c.A1549G p.R517G exonic ENSG00000067208.14 . nonsynonymous SNV ENSG00000067208.14:ENST00000370331.5:exon13:c.A1549G:p.R517G 1p22.1 C3N-00646 . . . . . . . . . 14.20 T D D D D D M T D 0.936 T T D 0.365 0.304 0.744 0.645 T T D D D D 3.868 26.200 0.998 D D 0.528 5.260 0.484 5.016 0.315 0.615 0.486 0.659 0.655 . 5.760 4.600 2.937 1.138 0.609 1.000 0.999 0.973 351 . . . . EVI5 148 0 61 7 0.102941176470588 TRUE TRUE +ENSG00000162738.6 . BCM GRCh38.p13 chr1 160419572 160419572 + G G A Missense_Mutation SNP ENST00000368061.3 exon4 c.G763A p.D255N exonic ENSG00000162738.6 . nonsynonymous SNV ENSG00000162738.6:ENST00000368061.3:exon4:c.G763A:p.D255N 1q23.2 C3N-00646 8.747e-06 0 0 0 0 0 0 6.213e-05 rs759727082 18.20 D D D D D D M D D 0.849 D D D 0.766 0.944 0.875 1.391 T D D T D D 4.304 29.600 0.999 D D 0.961 12.746 0.898 13.683 1.000 0.707 0.588 0.725 0.542 . 5.260 5.260 9.450 1.089 0.671 1.000 0.974 0.985 764 . . . . VANGL2 102 0 138 14 0.0921052631578947 TRUE NA +ENSG00000152092.16 . BCM GRCh38.p13 chr1 177029679 177029679 + G G - Nonsense_Mutation SNP ENST00000361833.7 exon5 c.1075delC p.L359* exonic ENSG00000152092.16 . stopgain ENSG00000152092.16:ENST00000361833.7:exon5:c.1075delC:p.L359* 1q25.2 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASTN1 128 0 145 23 0.136904761904762 TRUE TRUE +ENSG00000188783.6 . BCM GRCh38.p13 chr1 203483747 203483747 + C C A Missense_Mutation SNP ENST00000343110.3 exon2 c.C563A p.P188H exonic ENSG00000188783.6 . nonsynonymous SNV ENSG00000188783.6:ENST00000343110.3:exon2:c.C563A:p.P188H 1q32.1 C3N-00646 . . . . . . . . . 4.20 T T P P N N M T N 0.270 T T T 0.064 0.320 0.687 0.780 T T T T D D 2.551 22.500 0.992 N D -0.134 2.069 -0.295 1.575 1.000 0.554 0.588 0.602 0.613 . 4.590 2.520 2.568 1.026 0.599 0.011 0.029 0.095 911 . . . . PRELP 143 1 195 26 0.117647058823529 TRUE TRUE +ENSG00000198626.17 . BCM GRCh38.p13 chr1 237756319 237756319 + A A G Missense_Mutation SNP ENST00000366574.7 exon81 c.A11177G p.Y3726C exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon81:c.A11177G:p.Y3726C 1q43 C3N-00646 . . . . . . . . . 18.19 D . D D U D M D D 0.950 D D D 0.802 0.395 0.965 2.126 D D D D D D 4.155 28.200 0.998 D D 0.839 9.583 0.829 11.032 1.000 0.554 0.574 0.618 0.564 . 5.740 5.740 9.325 1.312 0.756 1.000 0.998 0.998 766 . . . . RYR2 109 0 109 11 0.0916666666666667 TRUE TRUE +ENSG00000054282.16 . BCM GRCh38.p13 chr1 243308072 243308072 + C C G Missense_Mutation SNP ENST00000366541.8 exon8 c.C824G p.T275S exonic ENSG00000054282.16 . nonsynonymous SNV ENSG00000054282.16:ENST00000366541.8:exon8:c.C824G:p.T275S 1q43 C3N-00646 . . . . . . . . . 0.20 T T B B N N N T N 0.052 T T T 0.023 0.431 0.168 0.038 T T T T T T -0.408 0.185 0.625 N N -1.256 0.190 -1.275 0.226 0.472 0.706 0.710 0.659 0.714 . 5.180 -3.260 0.055 -0.176 -0.181 0.000 0.037 0.723 623 . . . . SDCCAG8 245 0 217 46 0.174904942965779 TRUE TRUE +ENSG00000118965.15 . BCM GRCh38.p13 chr2 19978773 19978773 + A A - Nonsense_Mutation SNP ENST00000345530.7 exon5 c.414delT p.V139* exonic ENSG00000118965.15 . stopgain ENSG00000118965.15:ENST00000345530.7:exon5:c.414delT:p.V139* 2p24.1 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR35 306 0 252 29 0.103202846975089 TRUE TRUE +ENSG00000144366.16 . BCM GRCh38.p13 chr2 188569323 188569323 + A A T Missense_Mutation SNP ENST00000409830.6 exon8 c.A484T p.T162S exonic ENSG00000144366.16 . nonsynonymous SNV ENSG00000144366.16:ENST00000409830.6:exon8:c.A484T:p.T162S 2q32.2 C3N-00646 . . . . . . . . . 6.20 T T B B D D N T N 0.539 T T T 0.136 0.252 0.198 0.202 D T T T D T 2.187 20.800 0.976 D D -0.198 1.883 0.099 2.731 1.000 0.732 0.574 0.744 0.714 . 6.140 6.140 7.304 1.301 0.743 1.000 1.000 0.998 819 . . . . GULP1 214 0 102 7 0.0642201834862385 TRUE TRUE +ENSG00000006607.14 . BCM GRCh38.p13 chr2 241441399 241441399 + C C - Frame_Shift_Del DEL ENST00000264042.8 exon13 c.1254delC p.L419Cfs*70 exonic ENSG00000006607.14 . frameshift deletion ENSG00000006607.14:ENST00000264042.8:exon13:c.1254delC:p.L419Cfs*70 2q37.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FARP2 212 0 236 29 0.109433962264151 TRUE NA +ENSG00000006607.14 . BCM GRCh38.p13 chr2 241441403 241441404 + CC CC - Frame_Shift_Del DEL ENST00000264042.8 exon13 c.1258_1259del p.P420Rfs*3 exonic ENSG00000006607.14 . frameshift deletion ENSG00000006607.14:ENST00000264042.8:exon13:c.1258_1259del:p.P420Rfs*3 2q37.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FARP2 225 0 258 29 0.101045296167247 TRUE NA +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52409874 52409874 + T T A Missense_Mutation SNP ENST00000460680.6 exon1 c.A5T p.N2I exonic ENSG00000163930.10 . nonsynonymous SNV ENSG00000163930.10:ENST00000460680.6:exon1:c.A5T:p.N2I 3p21.1 C3N-00646 . . . . . . . . . 10.20 D D D P D D L T N 0.726 T T D 0.218 0.363 0.698 2.699 T T D T D D 4.313 29.700 0.992 N D 0.487 4.933 0.527 5.410 1.000 0.442 0.522 0.522 0.562 . 5.060 5.060 4.929 0.906 0.580 1.000 1.000 0.992 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . . BAP1 260 0 268 22 0.0758620689655172 TRUE TRUE +ENSG00000184500.16 . BCM GRCh38.p13 chr3 93886414 93886414 + C C A Missense_Mutation SNP ENST00000394236.9 exon11 c.G1245T p.K415N exonic ENSG00000184500.16 . nonsynonymous SNV ENSG00000184500.16:ENST00000394236.9:exon11:c.G1245T:p.K415N 3q11.1 C3N-00646 . . . . . . . . . 7.20 D T D D N N M T N 0.490 T D D 0.375 0.539 0.784 0.852 T T T T D T 2.521 22.500 0.997 N N -0.187 1.913 -0.384 1.401 0.000 0.638 0.574 0.618 0.668 . 3.360 -2.710 0.493 0.128 -0.374 0.999 0.983 0.854 607 Laminin_G_domain . . . PROS1 222 2 135 14 0.0939597315436242 NA TRUE +ENSG00000066422.5 . BCM GRCh38.p13 chr3 101651278 101651278 + A A T Missense_Mutation SNP ENST00000312938.5 exon11 c.T3050A p.M1017K exonic ENSG00000066422.5 . nonsynonymous SNV ENSG00000066422.5:ENST00000312938.5:exon11:c.T3050A:p.M1017K 3q12.3 C3N-00646 . . . . . . . . . 14.20 D D D D D D L T N 0.791 T T D 0.358 0.473 0.500 2.367 D T D D D D 4.004 27.000 0.987 D D 0.590 5.825 0.629 6.602 1.000 0.707 0.725 0.725 0.714 . 5.390 5.390 8.867 1.312 0.756 1.000 1.000 0.999 572 . . . . ZBTB11 143 0 127 14 0.099290780141844 TRUE TRUE +ENSG00000173230.15 . BCM GRCh38.p13 chr3 121664990 121664990 + A A G Missense_Mutation SNP ENST00000340645.9 exon21 c.T9581C p.I3194T exonic ENSG00000173230.15 . nonsynonymous SNV ENSG00000173230.15:ENST00000340645.9:exon21:c.T9581C:p.I3194T 3q13.33 C3N-00646 . . . . . . . . . 6.20 T D P B N D M T N 0.631 T T T 0.041 0.286 0.393 0.376 T T T T D D 3.718 25.500 0.994 D N 0.276 3.659 0.363 4.109 1.000 0.745 0.725 0.732 0.714 . 5.420 5.420 3.504 1.312 0.756 0.997 0.998 0.995 387 . . . . GOLGB1 137 0 170 24 0.123711340206186 TRUE TRUE +ENSG00000181982.18 . BCM GRCh38.p13 chr4 24808795 24808795 + T T A Missense_Mutation SNP ENST00000635206.1 exon13 c.A1217T p.D406V exonic ENSG00000181982.18 . nonsynonymous SNV ENSG00000181982.18:ENST00000635206.1:exon13:c.A1217T:p.D406V 4p15.2 C3N-00646 . . . . . . . . . 7.15 T D . . N D . . D 0.350 T T D 0.106 . 0.214 1.686 T . T T D D 3.859 26.100 0.891 D N -0.179 1.936 0.018 2.424 0.999 0.653 0.563 0.676 0.580 . 5.230 5.230 2.423 1.138 0.665 0.999 0.932 0.998 934 . . . . CCDC149 81 0 106 25 0.190839694656489 TRUE TRUE +ENSG00000138792.10 . BCM GRCh38.p13 chr4 110506739 110506739 + T T G Missense_Mutation SNP ENST00000265162.10 exon4 c.T1021G p.Y341D exonic ENSG00000138792.10 . nonsynonymous SNV ENSG00000138792.10:ENST00000265162.10:exon4:c.T1021G:p.Y341D 4q25 C3N-00646 . . . . . . . . . 15.20 D D D D D D H T D 0.935 T T D 0.791 0.847 0.635 0.716 T T D D D D 4.237 29.000 0.987 D D 0.835 9.494 0.707 7.880 1.000 0.554 0.547 0.602 0.542 . 5.810 5.810 7.927 1.138 0.665 1.000 0.979 0.993 862 Peptidase_M1,_membrane_alanine_aminopeptidase,_N-terminal . . . ENPEP 111 0 91 7 0.0714285714285714 TRUE TRUE +ENSG00000170185.10 . BCM GRCh38.p13 chr4 143206051 143206051 + G G A Missense_Mutation SNP ENST00000307017.9 exon6 c.G1228A p.E410K exonic ENSG00000170185.10 . nonsynonymous SNV ENSG00000170185.10:ENST00000307017.9:exon6:c.G1228A:p.E410K 4q31.21 C3N-00646 1.685e-05 0 0 0 0 3.037e-05 0 0 rs761444526 15.20 D D D D D D M T D 0.699 T T D 0.306 0.352 0.891 0.605 T T D D D D 4.564 32 0.999 D D 0.852 9.883 0.843 11.520 1.000 0.732 0.725 0.609 0.728 . 5.290 5.290 10.003 1.176 0.676 1.000 1.000 0.998 818 . . . . USP38 66 0 28 11 0.282051282051282 TRUE NA +ENSG00000145730.20 . BCM GRCh38.p13 chr5 103025272 103025272 + C C G Missense_Mutation SNP ENST00000438793.7 exon23 c.C2627G p.P876R exonic ENSG00000145730.20 . nonsynonymous SNV ENSG00000145730.20:ENST00000438793.7:exon23:c.C2627G:p.P876R 5q21.1 C3N-00646 . . . . . . . . . 16.20 D D D D D D M T D 0.845 T T D 0.389 0.630 0.763 0.676 T D D D D D 3.783 25.800 0.998 D D 0.341 3.997 0.456 4.779 1.000 0.706 0.710 0.659 0.714 . 5.690 5.690 4.639 1.026 0.599 1.000 0.925 0.996 948 . . . . PAM 289 0 388 38 0.0892018779342723 TRUE TRUE +ENSG00000113211.5 . BCM GRCh38.p13 chr5 141151605 141151605 + A A C Missense_Mutation SNP ENST00000231136.3 exon1 c.A1348C p.T450P exonic ENSG00000113211.5 . nonsynonymous SNV ENSG00000113211.5:ENST00000231136.3:exon1:c.A1348C:p.T450P 5q31.3 C3N-00646 . . . . . . . . . 2.16 D T . . . N . T D 0.091 T T T 0.076 0.330 0.369 . T T T T T T 2.171 20.600 0.977 N N -0.119 2.115 -0.217 1.745 0.002 0.554 0.574 0.602 0.530 . 4.180 1.600 -0.426 0.244 0.582 0.000 0.336 0.045 646 Cadherin-like . . . PCDHB6 640 0 808 94 0.104212860310421 NA TRUE +ENSG00000169220.18 . BCM GRCh38.p13 chr5 177371216 177371216 + G G T Missense_Mutation SNP ENST00000408923.8 exon12 c.G1306T p.A436S exonic ENSG00000169220.18 . nonsynonymous SNV ENSG00000169220.18:ENST00000408923.8:exon12:c.G1306T:p.A436S 5q35.3 C3N-00646 . . . . . . . . . 0.20 T T B B N N L T N 0.099 T T T 0.030 0.534 0.366 0.356 T T T T T T 1.995 19.220 0.977 N N -0.574 1.036 -0.485 1.226 1.000 0.733 0.639 0.601 0.604 . 5.570 -0.105 0.571 0.095 0.667 0.382 0.966 0.981 934 Raf-like_Ras-binding . . . RGS14 199 0 277 41 0.128930817610063 TRUE TRUE +ENSG00000204511.3 . BCM GRCh38.p13 chr6 31529058 31529058 + G G A Missense_Mutation SNP ENST00000376191.3 exon1 c.G44A p.R15H exonic ENSG00000204511.3 . nonsynonymous SNV ENSG00000204511.3:ENST00000376191.3:exon1:c.G44A:p.R15H 6p21.33 C3N-00646 4.301e-05 0.0001 0 0 0 6.314e-05 0 0 rs773573995 0.19 T T B B N N L T N 0.067 T T T 0.013 0.300 0.014 0.214 T T T T T . 0.519 6.702 0.679 N N -1.266 0.184 -1.325 0.193 1.000 0.680 0.573 0.601 0.711 . 3.250 -1.040 0.087 -0.287 -0.135 0.001 0.001 0.046 934 . . . ID=COSV66018785;OCCURENCE=1(large_intestine),1(ovary) MCCD1 103 0 125 8 0.0601503759398496 TRUE TRUE +ENSG00000185002.10 . BCM GRCh38.p13 chr6 116925489 116925489 + C C A Nonsense_Mutation SNP ENST00000332958.3 exon16 c.C1715A p.S572X exonic ENSG00000185002.10 . stopgain ENSG00000185002.10:ENST00000332958.3:exon16:c.C1715A:p.S572X 6q22.1 C3N-00646 . . . . . . . . . 5.6 . . . . D A . . . 0.964 . . . . . . . . . D D . . 8.023 40 0.996 D N 0.992 13.687 0.898 13.651 1.000 0.447 0.563 0.492 0.530 . 6.040 6.040 7.520 1.022 0.596 1.000 0.992 0.989 381 . . . . RFX6 441 0 530 66 0.110738255033557 TRUE TRUE +ENSG00000120254.15 . BCM GRCh38.p13 chr6 150922274 150922274 + A A - Frame_Shift_Del DEL ENST00000367321.7 exon10 c.1054delA p.K352Nfs*52 exonic ENSG00000120254.15 . frameshift deletion ENSG00000120254.15:ENST00000367321.7:exon10:c.1054delA:p.K352Nfs*52 6q25.1 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTHFD1L 119 0 138 32 0.188235294117647 TRUE TRUE +ENSG00000188372.15 . BCM GRCh38.p13 chr7 76441964 76441964 + G G T Missense_Mutation SNP ENST00000394857.8 exon8 c.G1183T p.A395S exonic ENSG00000188372.15 . nonsynonymous SNV ENSG00000188372.15:ENST00000394857.8:exon8:c.G1183T:p.A395S 7q11.23 C3N-00646 . . . . . . . . . 4.20 T T D P U N M T N 0.365 T T T 0.096 0.331 0.338 2.578 T T T T D T 2.184 20.700 0.987 D N 0.090 2.846 0.019 2.425 0.767 0.706 0.710 0.659 0.568 . 3.340 3.340 1.813 1.116 0.641 0.065 0.627 0.012 886 . . . ID=COSV100334553;OCCURENCE=1(lung) ZP3 95 0 123 14 0.102189781021898 NA TRUE +ENSG00000106244.13 . BCM GRCh38.p13 chr7 99397916 99397916 + T T C Missense_Mutation SNP ENST00000350498.8 exon5 c.A433G p.I145V exonic ENSG00000106244.13 . nonsynonymous SNV ENSG00000106244.13:ENST00000350498.8:exon5:c.A433G:p.I145V 7q22.1 C3N-00646 . . . . . . . . . 7.19 D T P P D D L . N 0.450 T T T 0.180 0.594 0.534 0.846 T T T T D D 3.719 25.500 0.998 D D 0.454 4.696 0.477 4.960 1.000 0.672 0.702 0.702 0.711 . 5.130 5.130 6.088 1.049 0.665 1.000 0.997 0.990 496 Casein_kinase_substrate,_phosphoprotein_PP28 . . . PDAP1 198 0 215 31 0.126016260162602 NA TRUE +ENSG00000169876.14 . BCM GRCh38.p13 chr7 101042405 101042409 + CACAC CACAC - Frame_Shift_Del DEL ENST00000306151.9 exon3 c.10989_10993del p.T3664Cfs*15 exonic ENSG00000169876.14 . frameshift deletion ENSG00000169876.14:ENST00000306151.9:exon3:c.10989_10993del:p.T3664Cfs*15 7q22.1 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC17 85 0 101 8 0.073394495412844 NA TRUE +ENSG00000106615.10 . BCM GRCh38.p13 chr7 151490963 151490963 + T T C Missense_Mutation SNP ENST00000262187.10 exon2 c.A104G p.Y35C exonic ENSG00000106615.10 . nonsynonymous SNV ENSG00000106615.10:ENST00000262187.10:exon2:c.A104G:p.Y35C 7q36.1 C3N-00646 . . . . . . . . rs1057519950 20.20 D D D D D D M D D 0.650 D D D 0.912 0.903 0.914 2.568 D D D D D D 4.196 28.600 0.999 D D 0.851 9.861 0.795 9.974 1.000 0.554 0.602 0.602 0.757 . 5.420 5.420 5.736 1.138 0.665 1.000 1.000 0.998 976 Small_GTP-binding_protein_domain . . ID=COSV51263550;OCCURENCE=1(liver),1(large_intestine),2(urinary_tract) RHEB 220 0 140 29 0.171597633136095 TRUE TRUE +ENSG00000184661.14 . BCM GRCh38.p13 chr8 25460268 25460268 + C C A Missense_Mutation SNP ENST00000330560.8 exon2 c.C29A p.P10H exonic ENSG00000184661.14 . nonsynonymous SNV ENSG00000184661.14:ENST00000330560.8:exon2:c.C29A:p.P10H 8p21.2 C3N-00646 . . . . . . . . . 2.20 D D P P N N L T N 0.149 T T T 0.096 0.074 0.274 0.273 T T T T T T 1.653 16.720 0.898 N N -0.421 1.338 -0.568 1.095 1.000 0.628 0.672 0.686 0.639 . 4.620 0.790 -0.006 0.125 0.599 0.009 0.264 0.307 838 . . . . CDCA2 192 1 220 32 0.126984126984127 TRUE TRUE +ENSG00000164764.11 . BCM GRCh38.p13 chr8 73071858 73071868 + ATAAAGGCAGG ATAAAGGCAGG - Frame_Shift_Del DEL ENST00000297354.7 exon3 c.412_422del p.P138Nfs*32 exonic ENSG00000164764.11 . frameshift deletion ENSG00000164764.11:ENST00000297354.7:exon3:c.412_422del:p.P138Nfs*32 8q21.11 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SBSPON 207 0 220 20 0.0833333333333333 TRUE TRUE +ENSG00000147679.12 . BCM GRCh38.p13 chr8 116771550 116771550 + A A C Missense_Mutation SNP ENST00000309822.7 exon3 c.A458C p.K153T exonic ENSG00000147679.12 . nonsynonymous SNV ENSG00000147679.12:ENST00000309822.7:exon3:c.A458C:p.K153T 8q24.11 C3N-00646 . . . . . . . . . 2.20 T T B B N D L T N 0.140 T T T 0.042 0.391 0.203 0.283 T T T T T T 1.476 15.580 0.937 D N -0.374 1.440 -0.240 1.693 1.000 0.732 0.699 0.725 0.728 . 5.960 3.620 1.446 0.324 0.756 1.000 0.981 0.915 770 . . . . UTP23 89 0 76 11 0.126436781609195 TRUE TRUE +ENSG00000156802.13 . BCM GRCh38.p13 chr8 123371791 123371791 + C C A Missense_Mutation SNP ENST00000287394.10 exon4 c.G415T p.V139F exonic ENSG00000156802.13 . nonsynonymous SNV ENSG00000156802.13:ENST00000287394.10:exon4:c.G415T:p.V139F 8q24.13 C3N-00646 . . . . . . . . . 3.19 D T B B . D L T N 0.258 T T T 0.031 0.196 0.314 0.452 T T T T T T 1.940 18.800 0.991 D N -0.142 2.045 -0.070 2.136 1.000 0.719 0.723 0.725 0.714 . 4.860 3.940 1.210 0.130 0.599 0.325 0.856 0.977 956 . . . . ATAD2 88 0 101 13 0.114035087719298 TRUE TRUE +ENSG00000132294.15 . BCM GRCh38.p13 chr8 131996459 131996459 + G G A Missense_Mutation SNP ENST00000254624.10 exon19 c.G2119A p.V707M exonic ENSG00000132294.15 . nonsynonymous SNV ENSG00000132294.15:ENST00000254624.10:exon19:c.G2119A:p.V707M 8q24.22 C3N-00646 . . . . . . . . . 10.20 D D D D D D L T N 0.839 T T T 0.202 0.229 0.734 0.173 T T T T D D 4.055 27.400 0.999 D D 0.818 9.149 0.861 12.177 1.000 0.706 0.710 0.710 0.613 . 6.060 6.060 9.203 1.176 0.676 1.000 1.000 1.000 918 . . . . EFR3A 147 0 35 4 0.102564102564103 TRUE NA +ENSG00000181085.15 . BCM GRCh38.p13 chr8 143721370 143721370 + C C A Missense_Mutation SNP ENST00000338033.9 exon11 c.C1163A p.P388H exonic ENSG00000181085.15 . nonsynonymous SNV ENSG00000181085.15:ENST00000338033.9:exon11:c.C1163A:p.P388H 8q24.3 C3N-00646 . . . . . . . . . 2.19 T T P B U N L T N 0.106 T T D 0.211 0.150 0.812 0.054 T T T T D . 0.153 2.607 0.737 N N -0.851 0.584 -1.050 0.429 1.000 0.635 0.588 0.644 0.613 . 2.910 -0.115 -0.166 -1.096 -0.362 0.000 0.003 0.031 889 . . . . MAPK15 105 1 130 13 0.0909090909090909 TRUE TRUE +ENSG00000171843.16 . BCM GRCh38.p13 chr9 20414181 20414181 + G G C Missense_Mutation SNP ENST00000380338.9 exon5 c.C665G p.S222C exonic ENSG00000171843.16 . nonsynonymous SNV ENSG00000171843.16:ENST00000380338.9:exon5:c.C665G:p.S222C 9p21.3 C3N-00646 . . . . . . . . . 10.19 D D D D N D L . D 0.490 T T T 0.177 0.352 0.353 0.171 T D T T D D 3.653 25.200 0.991 D N 0.680 6.848 0.674 7.292 0.997 0.707 0.725 0.653 0.668 . 5.480 5.480 4.015 1.106 0.509 1.000 1.000 0.998 790 . . . . MLLT3 390 0 398 39 0.0892448512585812 TRUE TRUE +ENSG00000198785.7 . BCM GRCh38.p13 chr9 101670397 101670397 + G G A Missense_Mutation SNP ENST00000361820.6 exon3 c.C2015T p.P672L exonic ENSG00000198785.7 . nonsynonymous SNV ENSG00000198785.7:ENST00000361820.6:exon3:c.C2015T:p.P672L 9q31.1 C3N-00646 . . . . . . . . . 17.20 D D D D D D M T D 0.975 T T D 0.764 0.775 0.862 0.589 D D D D D D 4.212 28.800 0.999 D D 1.056 15.785 1.000 18.840 1.000 0.487 0.574 0.547 0.564 . 5.630 5.630 10.003 1.176 0.618 1.000 1.000 0.999 898 Ionotropic_glutamate_receptor . . ID=COSV62453111;OCCURENCE=1(skin) GRIN3A 237 0 296 38 0.11377245508982 TRUE TRUE +ENSG00000165029.16 . BCM GRCh38.p13 chr9 104788560 104788560 + A A C Missense_Mutation SNP ENST00000374736.8 exon45 c.T5935G p.S1979A exonic ENSG00000165029.16 . nonsynonymous SNV ENSG00000165029.16:ENST00000374736.8:exon45:c.T5935G:p.S1979A 9q31.1 C3N-00646 . . . . . . . . . 6.20 T T B B N N N D N 0.283 T D D 0.323 0.489 0.923 0.433 T D T T D T 2.912 23.200 0.993 D N -0.214 1.838 0.000 2.359 0.997 0.651 0.588 0.609 0.684 . 6.140 4.980 2.961 1.312 0.756 0.997 0.996 0.988 950 ABC_transporter-like;AAA+_ATPase_domain . . . ABCA1 322 0 414 59 0.124735729386892 TRUE TRUE +ENSG00000148156.8 . BCM GRCh38.p13 chr9 108855222 108855222 + G G A Missense_Mutation SNP ENST00000374667.5 exon1 c.C709T p.L237F exonic ENSG00000148156.8 . nonsynonymous SNV ENSG00000148156.8:ENST00000374667.5:exon1:c.C709T:p.L237F 9q31.3 C3N-00646 . . . . . . . . . 12.20 D D D D N D M T D 0.800 T T T 0.369 0.747 0.621 1.282 T D T T D D 3.926 26.500 0.999 D D 0.708 7.239 0.617 6.437 1.000 0.517 0.547 0.479 0.542 . 4.630 3.710 5.605 1.172 0.672 1.000 0.995 0.921 915 . . . . ACTL7B 50 0 67 14 0.172839506172839 TRUE NA +ENSG00000186350.12 . BCM GRCh38.p13 chr9 134401680 134401680 + G G T Missense_Mutation SNP ENST00000481739.2 exon2 c.G77T p.G26V exonic ENSG00000186350.12 . nonsynonymous SNV ENSG00000186350.12:ENST00000481739.2:exon2:c.G77T:p.G26V 9q34.2 C3N-00646 . . . . . . . . . 13.20 D D B B N D L D N 0.641 D D D 0.442 0.240 0.877 0.455 T T D D D D 3.076 23.600 0.992 D D 0.008 2.539 0.125 2.838 1.000 0.745 0.732 0.723 0.655 . 4.210 4.210 6.038 1.160 0.658 1.000 0.959 0.873 535 Nuclear/hormone_receptor_activator_site_AF-1 . . . RXRA 341 0 466 63 0.119092627599244 TRUE TRUE +ENSG00000176244.7 . BCM GRCh38.p13 chr10 15078728 15078728 + T T - Frame_Shift_Del DEL ENST00000356189.6 exon3 c.156delA p.G53Afs*30 exonic ENSG00000176244.7 . frameshift deletion ENSG00000176244.7:ENST00000356189.6:exon3:c.156delA:p.G53Afs*30 10p13 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACBD7 204 0 188 14 0.0693069306930693 TRUE TRUE +ENSG00000177613.9 . BCM GRCh38.p13 chr10 51697878 51697878 + G G A Nonsense_Mutation SNP ENST00000331173.6 exon1 c.C1672T p.Q558X exonic ENSG00000177613.9 . stopgain ENSG00000177613.9:ENST00000331173.6:exon1:c.C1672T:p.Q558X 10q21.1 C3N-00646 . . . . . . . . . 4.6 . . . . N D . . . 0.844 . . . . . . . . . D D . . 7.880 40 0.997 D N 0.888 10.751 0.747 8.721 1.000 0.722 0.686 0.699 0.735 . 4.650 4.650 4.556 1.176 0.676 1.000 1.000 0.915 940 . . . . CSTF2T 193 0 279 27 0.0882352941176471 TRUE TRUE +ENSG00000107625.13 . BCM GRCh38.p13 chr10 68934293 68934293 + C C T Missense_Mutation SNP ENST00000373585.8 exon9 c.C1334T p.T445I exonic ENSG00000107625.13 . nonsynonymous SNV ENSG00000107625.13:ENST00000373585.8:exon9:c.C1334T:p.T445I 10q22.1 C3N-00646 . . . . . . . . . 17.20 D D D D D D H T D 0.972 T T D 0.648 0.869 0.673 1.454 D D D D D D 3.806 25.900 0.999 D D 0.982 13.359 0.910 14.183 1.000 0.732 0.725 0.744 0.714 . 5.480 5.480 7.246 1.011 0.581 1.000 0.999 0.998 761 Helicase,_C-terminal . . ID=COSV104424183;OCCURENCE=1(large_intestine) DDX50 215 0 245 21 0.0789473684210526 TRUE TRUE +ENSG00000180116.15 . BCM GRCh38.p13 chr12 39643869 39643869 + C C G Missense_Mutation SNP ENST00000324616.9 exon3 c.C154G p.L52V exonic ENSG00000180116.15 . nonsynonymous SNV ENSG00000180116.15:ENST00000324616.9:exon3:c.C154G:p.L52V 12q12 C3N-00646 . . . . . . . . . 9.18 D D D D . D M T N 0.516 T T D 0.228 0.286 0.468 0.096 . T T T D T 3.102 23.600 0.999 D N 0.397 4.322 0.408 4.415 0.000 0.487 0.574 0.574 0.542 . 5.670 3.830 2.612 1.026 0.549 0.989 0.998 0.988 735 . . . . C12orf40 134 0 19 4 0.173913043478261 TRUE TRUE +ENSG00000185958.10 . BCM GRCh38.p13 chr12 50351825 50351825 + G G T Missense_Mutation SNP ENST00000327337.6 exon4 c.C5007A p.H1669Q exonic ENSG00000185958.10 . nonsynonymous SNV ENSG00000185958.10:ENST00000327337.6:exon4:c.C5007A:p.H1669Q 12q13.12 C3N-00646 . . . . . . . . . 0.18 T T B B . N N T N 0.045 T T T 0.002 0.255 0.014 . T T T T T T -0.882 0.016 0.237 N . -1.620 0.051 -1.664 0.059 1.000 0.554 0.588 0.316 0.542 . 3.360 -2.180 -1.520 0.071 -0.234 0.000 0.018 0.003 584 . . . . FAM186A 55 0 93 10 0.0970873786407767 TRUE TRUE +ENSG00000037897.17 . BCM GRCh38.p13 chr12 57771232 57771232 + A A G Missense_Mutation SNP ENST00000324871.12 exon2 c.T136C p.W46R exonic ENSG00000037897.17 . nonsynonymous SNV ENSG00000037897.17:ENST00000324871.12:exon2:c.T136C:p.W46R 12q14.1 C3N-00646 . . . . . . . . . 17.20 D D D D D D H T D 0.913 D T D 0.738 0.750 0.883 0.960 T D D D D D 4.369 31 0.997 D D 0.953 12.499 0.862 12.232 1.000 0.628 0.672 0.686 0.639 . 5.300 5.300 7.880 1.312 0.756 1.000 1.000 0.998 185 . . . . METTL1 73 0 86 18 0.173076923076923 TRUE TRUE +ENSG00000123066.8 . BCM GRCh38.p13 chr12 115986376 115986376 + C C A Missense_Mutation SNP ENST00000281928.8 exon19 c.G4228T p.D1410Y exonic ENSG00000123066.8 . nonsynonymous SNV ENSG00000123066.8:ENST00000281928.8:exon19:c.G4228T:p.D1410Y 12q24.21 C3N-00646 . . . . . . . . . 11.20 D D P P D D L T D 0.758 T T T 0.641 0.639 0.533 0.748 T T D D D D 3.976 26.800 0.991 D D 0.670 6.718 0.730 8.361 1.000 0.732 0.725 0.744 0.714 . 5.850 5.850 7.565 1.026 0.599 1.000 1.000 0.999 980 . . . . MED13L 672 1 868 115 0.116988809766022 NA TRUE +ENSG00000151835.16 . BCM GRCh38.p13 chr13 23335250 23335250 + C C T Missense_Mutation SNP ENST00000382292.9 exon10 c.G8626A p.E2876K exonic ENSG00000151835.16 . nonsynonymous SNV ENSG00000151835.16:ENST00000382292.9:exon10:c.G8626A:p.E2876K 13q12.12 C3N-00646 . . . . . . . . . 15.20 T D D P D D L D N 0.870 D D D 0.564 0.474 0.873 . D T D D D D 3.242 24.000 0.999 D D 0.531 5.288 0.592 6.119 1.000 0.737 0.710 0.696 0.678 . 5.400 5.400 7.568 1.026 0.599 1.000 0.845 0.226 987 . . . . SACS 180 0 219 24 0.0987654320987654 TRUE TRUE +ENSG00000165959.12 . BCM GRCh38.p13 chr14 95203309 95203309 + C C A Missense_Mutation SNP ENST00000298912.9 exon9 c.G2040T p.Q680H exonic ENSG00000165959.12 . nonsynonymous SNV ENSG00000165959.12:ENST00000298912.9:exon9:c.G2040T:p.Q680H 14q32.13 C3N-00646 . . . . . . . . . 3.20 T T P B N N L D N 0.102 T D D 0.291 0.131 0.865 0.245 T T T T T T 0.399 5.420 0.967 N N -0.522 1.134 -0.653 0.967 0.999 0.732 0.744 0.659 0.668 . 5.170 1.710 -1.293 1.000 0.599 0.000 0.006 0.004 964 . . . . CLMN 231 0 290 44 0.131736526946108 TRUE TRUE +ENSG00000185347.17 . BCM GRCh38.p13 chr14 105492720 105492720 + - NA C Frame_Shift_Ins NA ENST00000392523.8 exon4 c.572dupC p.L192Pfs*19 exonic ENSG00000185347.17 . frameshift insertion ENSG00000185347.17:ENST00000392523.8:exon4:c.572dupC:p.L192Pfs*19 14q32.33 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TEDC1 NA NA NA NA NA NA NA +ENSG00000137841.12 . BCM GRCh38.p13 chr15 40296625 40296635 + CCAGCCCACAC CCAGCCCACAC - Frame_Shift_Del DEL ENST00000260402.8 exon15 c.1487_1496del p.V496Afs*42 exonic ENSG00000137841.12 . frameshift deletion ENSG00000137841.12:ENST00000260402.8:exon15:c.1487_1496del:p.V496Afs*42 15q15.1 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCB2 119 0 131 23 0.149350649350649 TRUE NA +ENSG00000140265.12 . BCM GRCh38.p13 chr15 43366256 43366256 + G G T Missense_Mutation SNP ENST00000396976.6 exon3 c.C1076A p.T359N exonic ENSG00000140265.12 . nonsynonymous SNV ENSG00000140265.12:ENST00000396976.6:exon3:c.C1076A:p.T359N 15q15.3 C3N-00646 . . . . . . . . . 3.20 D T D P N N M T N 0.353 T T T 0.047 0.247 0.366 0.149 T T T T T T 1.292 14.330 0.970 N N -0.198 1.881 -0.411 1.353 1.000 0.632 0.577 0.698 0.636 . 5.240 1.120 1.814 1.176 0.676 0.016 0.943 0.359 15 . . . . ZSCAN29 276 0 360 59 0.140811455847255 TRUE TRUE +ENSG00000166035.11 . BCM GRCh38.p13 chr15 58432073 58432073 + T T C Missense_Mutation SNP ENST00000299022.10 exon1 c.T41C p.L14S exonic ENSG00000166035.11 . nonsynonymous SNV ENSG00000166035.11:ENST00000299022.10:exon1:c.T41C:p.L14S 15q21.3 C3N-00646 . . . . . . . . . 5.20 D T P B N N N D N 0.509 T T D 0.373 0.520 0.716 0.139 T T D T T T 1.612 16.450 0.978 N D -0.510 1.158 -0.469 1.252 1.000 0.487 0.574 0.547 0.564 . 5.230 2.830 1.044 1.138 0.654 0.146 0.935 0.968 876 . . . . LIPC 393 0 482 69 0.125226860254083 TRUE TRUE +ENSG00000103550.14 . BCM GRCh38.p13 chr16 19714574 19714577 + TTCC TTCC - Frame_Shift_Del DEL ENST00000219837.12 exon2 c.459_462del p.E154Kfs*58 exonic ENSG00000103550.14 . frameshift deletion ENSG00000103550.14:ENST00000219837.12:exon2:c.459_462del:p.E154Kfs*58 16p12.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KNOP1 204 0 298 32 0.096969696969697 TRUE TRUE +ENSG00000169246.16 . BCM GRCh38.p13 chr16 21404797 21404797 + G G A Missense_Mutation SNP ENST00000542817.1 exon1 c.C491T p.S164L exonic ENSG00000169246.16 . nonsynonymous SNV ENSG00000169246.16:ENST00000542817.1:exon1:c.C491T:p.S164L 16p12.2 C3N-00646 . . . . . . . . . 5.13 D D . . . N . . D 0.293 T T T 0.039 . 0.043 . . . T T D D 1.895 18.450 0.991 N N -0.649 0.900 -0.920 0.593 0.000 0.693 0.659 0.659 0.564 . . . 0.196 0.206 0.202 0.002 0.002 0.002 878 . . . . NPIPB3 291 0 306 25 0.0755287009063444 NA TRUE +ENSG00000155719.18 . BCM GRCh38.p13 chr16 21728369 21728369 + C C G Missense_Mutation SNP ENST00000286149.8 exon19 c.C2187G p.D729E exonic ENSG00000155719.18 . nonsynonymous SNV ENSG00000155719.18:ENST00000286149.8:exon19:c.C2187G:p.D729E 16p12.2 C3N-00646 . . . . . . . . . 2.20 T T B B N N M T N 0.181 T T T 0.046 0.275 0.126 0.189 T T T T D T 1.305 14.420 0.221 N N -0.891 0.531 -0.829 0.718 0.001 0.554 0.588 0.574 0.564 . 5.290 2.290 0.876 0.130 -0.176 0.848 0.320 0.796 611 . . . . OTOA 139 0 181 26 0.1256038647343 TRUE TRUE +ENSG00000122254.7 . BCM GRCh38.p13 chr16 22915494 22915494 + C C T Nonsense_Mutation SNP ENST00000261374.4 exon2 c.C1036T p.R346X exonic ENSG00000122254.7 . stopgain ENSG00000122254.7:ENST00000261374.4:exon2:c.C1036T:p.R346X 16p12.2 C3N-00646 . . . . . . . . . 5.6 . . . . D D . . . 0.246 . . . . . . . . . D D . . 7.951 40 0.998 D N 0.652 6.500 0.496 5.120 0.030 0.615 0.590 0.659 0.564 . 5.200 3.120 3.084 1.026 0.599 0.998 1.000 0.998 892 Sulfotransferase_domain . . ID=COSV54457839;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(skin) HS3ST2 232 0 295 27 0.0838509316770186 TRUE TRUE +ENSG00000156860.16 . BCM GRCh38.p13 chr16 30668891 30668891 + C C - Frame_Shift_Del DEL ENST00000287468.5 exon11 c.718delC p.P241Lfs*63 exonic ENSG00000156860.16 . frameshift deletion ENSG00000156860.16:ENST00000287468.5:exon11:c.718delC:p.P241Lfs*63 16p11.2 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBRS 134 0 171 34 0.165853658536585 TRUE TRUE +ENSG00000181323.8 . BCM GRCh38.p13 chr17 7421096 7421096 + C C T Missense_Mutation SNP ENST00000323675.4 exon3 c.C421T p.P141S exonic ENSG00000181323.8 . nonsynonymous SNV ENSG00000181323.8:ENST00000323675.4:exon3:c.C421T:p.P141S 17p13.1 C3N-00646 . . . . . . . . . 1.18 T T B B N N L . D 0.249 T T T 0.023 0.342 0.055 0.603 T T T T T . 0.420 5.646 0.583 N N -1.126 0.284 -1.154 0.323 0.000 0.403 0.547 0.578 0.613 . 5.770 -1.270 -0.209 -0.269 -0.222 0.000 0.070 0.098 262 . . . . SPEM1 170 0 223 23 0.0934959349593496 TRUE TRUE +ENSG00000007202.15 . BCM GRCh38.p13 chr17 28635057 28635057 + C C G Missense_Mutation SNP ENST00000528896.7 exon16 c.G2530C p.V844L exonic ENSG00000007202.15 . nonsynonymous SNV ENSG00000007202.15:ENST00000528896.7:exon16:c.G2530C:p.V844L 17q11.2 C3N-00646 . . . . . . . . . 6.19 T D P B D D M T N 0.768 T T T 0.156 0.474 0.315 0.221 T T T T T D 2.133 20.400 0.989 D . 0.342 4.005 0.443 4.680 1.000 0.707 0.702 0.725 0.714 . 5.890 5.890 4.528 1.026 0.599 1.000 1.000 0.997 227 . . . . KIAA0100 190 0 260 33 0.112627986348123 TRUE TRUE +ENSG00000108510.10 . BCM GRCh38.p13 chr17 61983032 61983032 + C C A Missense_Mutation SNP ENST00000397786.7 exon16 c.G2971T p.A991S exonic ENSG00000108510.10 . nonsynonymous SNV ENSG00000108510.10:ENST00000397786.7:exon16:c.G2971T:p.A991S 17q23.2 C3N-00646 . . . . . . . . . 12.20 T T D D D D M T N 0.592 T D D 0.278 0.140 0.481 0.699 T T D T D D 3.617 25.100 0.998 D D 0.822 9.221 0.836 11.261 1.000 0.707 0.725 0.725 0.711 . 6.030 6.030 7.568 1.026 0.599 1.000 0.988 0.990 125 . . . . MED13 137 0 197 28 0.124444444444444 TRUE TRUE +ENSG00000125447.18 . BCM GRCh38.p13 chr17 75241643 75241643 + A A - Frame_Shift_Del DEL ENST00000537686.6 exon9 c.801delT p.S267Rfs*43 exonic ENSG00000125447.18 . frameshift deletion ENSG00000125447.18:ENST00000537686.6:exon9:c.801delT:p.S267Rfs*43 17q25.1 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GGA3 177 0 197 34 0.147186147186147 TRUE TRUE +ENSG00000176155.19 . BCM GRCh38.p13 chr17 82201761 82201761 + G G T Missense_Mutation SNP ENST00000389641.9 exon2 c.C184A p.Q62K exonic ENSG00000176155.19 . nonsynonymous SNV ENSG00000176155.19:ENST00000389641.9:exon2:c.C184A:p.Q62K 17q25.3 C3N-00646 . . . . . . . . . 2.20 T T P B N N L T N 0.180 T T T 0.015 0.257 0.388 0.155 T T T T D T 2.101 20.100 0.987 D N -0.000 2.511 0.091 2.698 1.000 0.701 0.634 0.717 0.646 . 5.180 4.150 2.200 1.015 0.662 0.905 0.985 0.954 . . . . . CCDC57 139 0 167 16 0.087431693989071 TRUE TRUE +ENSG00000141579.7 . BCM GRCh38.p13 chr17 82832438 82832438 + T T C Missense_Mutation SNP ENST00000269394.4 exon2 c.A17G p.E6G exonic ENSG00000141579.7 . nonsynonymous SNV ENSG00000141579.7:ENST00000269394.4:exon2:c.A17G:p.E6G 17q25.3 C3N-00646 . . . . . . . . . 9.19 T T D D D D N T D 0.571 T T D 0.163 0.134 0.134 0.862 D T T T D T 4.120 27.900 0.999 D . 0.610 6.023 0.600 6.228 1.000 0.476 0.546 0.578 0.528 . 5.690 5.690 4.825 1.109 0.665 1.000 0.983 0.985 . Zinc_finger_protein_750-like,_zinc_finger . . . ZNF750 176 0 283 47 0.142424242424242 TRUE TRUE +ENSG00000178078.11 . BCM GRCh38.p13 chr19 4325515 4325515 + G G A Missense_Mutation SNP ENST00000594605.5 exon10 c.C860T p.P287L exonic ENSG00000178078.11 . nonsynonymous SNV ENSG00000178078.11:ENST00000594605.5:exon10:c.C860T:p.P287L 19p13.3 C3N-00646 1.734e-05 9.726e-05 0 0 0 1.536e-05 0 0 rs139570430 1.18 . D B B N N N T . 0.082 T T T 0.060 . 0.145 0.278 T T T T T T 0.907 10.510 0.686 N N -1.418 0.110 -1.482 0.115 0.019 0.706 0.710 0.644 0.655 . 4.770 -2.080 0.532 -2.448 -1.931 0.008 0.000 0.000 929 . . . . STAP2 82 0 94 5 0.0505050505050505 TRUE NA +ENSG00000254858.10 . BCM GRCh38.p13 chr19 18193899 18193899 + T T A Missense_Mutation SNP ENST00000599612.3 exon2 c.T223A p.F75I exonic ENSG00000254858.10 . nonsynonymous SNV ENSG00000254858.10:ENST00000599612.3:exon2:c.T223A:p.F75I 19p13.11 C3N-00646 . . . . . . . . . 2.18 . T B B N N L D . 0.363 T T D 0.069 0.331 0.298 0.731 T T T T T T 2.244 21.200 0.958 N N -0.619 0.954 -0.484 1.228 1.000 0.767 0.484 0.851 0.639 . 4.450 3.390 0.258 0.986 0.349 0.377 1.000 0.978 952 . . . . MPV17L2 138 0 196 33 0.14410480349345 TRUE TRUE +ENSG00000167232.14 . BCM GRCh38.p13 chr19 23360667 23360667 + T T C Missense_Mutation SNP ENST00000300619.12 exon4 c.A2312G p.K771R exonic ENSG00000167232.14 . nonsynonymous SNV ENSG00000167232.14:ENST00000300619.12:exon4:c.A2312G:p.K771R 19p12 C3N-00646 . . . . . . . . . 2.19 D T D P . N N T N 0.104 T T T 0.050 0.387 0.589 0.697 T T T T T T 2.039 19.550 0.994 N N -0.750 0.731 -0.911 0.605 0.000 0.651 0.634 0.659 0.684 . 1.710 1.710 -1.021 0.392 0.311 0.000 0.004 0.007 988 Zinc_finger_C2H2-type . . . ZNF91 157 0 97 15 0.133928571428571 NA TRUE +ENSG00000255974.8 . BCM GRCh38.p13 chr19 40846881 40846881 + C C T Missense_Mutation SNP ENST00000301141.10 exon5 c.G825A p.M275I exonic ENSG00000255974.8 . nonsynonymous SNV ENSG00000255974.8:ENST00000301141.10:exon5:c.G825A:p.M275I 19q13.2 C3N-00646 . . . . . . . . . 2.16 T T . . N N . T D 0.337 T T T 0.129 0.683 0.486 0.095 T . T T D T 1.144 13.180 0.971 N N -0.560 1.062 -0.511 1.184 0.000 0.549 0.563 0.590 0.530 . 2.370 2.370 0.903 -0.942 -0.569 0.335 0.443 0.800 521 . . . . CYP2A6 101 0 138 26 0.158536585365854 NA TRUE +ENSG00000105281.12 . BCM GRCh38.p13 chr19 46787593 46787593 + C C A Missense_Mutation SNP ENST00000542575.6 exon1 c.G373T p.G125C exonic ENSG00000105281.12 . nonsynonymous SNV ENSG00000105281.12:ENST00000542575.6:exon1:c.G373T:p.G125C 19q13.32 C3N-00646 . . . . . . . . . 19.20 D D D D D D H T D 0.715 D D D 0.599 0.826 0.794 1.598 D D D D D D 3.781 25.700 0.998 D D 0.589 5.811 0.424 4.533 1.000 0.733 0.522 0.601 0.562 . 4.570 3.520 5.761 1.026 0.599 1.000 0.992 0.917 906 . . . . SLC1A5 277 1 361 50 0.121654501216545 TRUE TRUE +ENSG00000105559.12 . BCM GRCh38.p13 chr19 48857466 48857466 + G G A Missense_Mutation SNP ENST00000263265.11 exon9 c.C1003T p.L335F exonic ENSG00000105559.12 . nonsynonymous SNV ENSG00000105559.12:ENST00000263265.11:exon9:c.C1003T:p.L335F 19q13.33 C3N-00646 . . . . . . . . . 7.20 D T D D D D L T N 0.517 T T T 0.112 0.233 0.661 0.794 T T T T D T 3.505 24.700 0.999 D N 0.388 4.269 0.363 4.108 0.992 0.651 0.634 0.651 0.568 . 4.570 3.540 2.551 1.161 0.676 1.000 0.906 0.618 749 . . . . PLEKHA4 165 0 194 21 0.0976744186046512 TRUE TRUE +ENSG00000188559.15 . BCM GRCh38.p13 chr20 20526293 20526293 + G G A Missense_Mutation SNP ENST00000202677.12 exon28 c.C3652T p.L1218F exonic ENSG00000188559.15 . nonsynonymous SNV ENSG00000188559.15:ENST00000202677.12:exon28:c.C3652T:p.L1218F 20p11.23 C3N-00646 . . . . . . . . . 14.20 D D D D D D M T D 0.804 T T D 0.305 0.373 0.636 0.457 T T D T D D 4.102 27.800 0.999 D D 0.813 9.046 0.775 9.426 1.000 0.732 0.744 0.710 0.728 . 5.490 5.490 6.851 1.176 0.676 1.000 1.000 0.991 415 . . . . RALGAPA2 160 0 156 29 0.156756756756757 TRUE TRUE +ENSG00000078814.17 . BCM GRCh38.p13 chr20 34977650 34977650 + C C A Missense_Mutation SNP ENST00000618182.6 exon1 c.C21A p.S7R exonic ENSG00000078814.17 . nonsynonymous SNV ENSG00000078814.17:ENST00000618182.6:exon1:c.C21A:p.S7R 20q11.22 C3N-00646 . . . . . . . . . 6.14 D . . . . N . D N 0.539 T D D 0.323 0.228 0.633 0.381 T . T T D T 2.952 23.300 0.985 D N 0.293 3.744 0.339 3.953 1.000 0.554 0.588 0.602 0.542 . 5.300 3.230 2.813 0.996 0.564 0.969 0.988 0.986 625 . . . . MYH7B 186 1 229 29 0.112403100775194 TRUE TRUE +ENSG00000101445.10 . BCM GRCh38.p13 chr20 38835971 38835971 + A A T Nonsense_Mutation SNP ENST00000299824.6 exon2 c.A46T p.K16X exonic ENSG00000101445.10 . stopgain ENSG00000101445.10:ENST00000299824.6:exon2:c.A46T:p.K16X 20q11.23 C3N-00646 . . . . . . . . . 5.6 . . . . D A . . . 0.387 . . . . . . . . . D D . . 7.188 37 0.995 D N 0.967 12.902 0.840 11.405 1.000 0.722 0.699 0.565 0.636 . 5.260 5.260 8.852 1.307 0.751 1.000 1.000 1.000 918 . . . . PPP1R16B 112 0 150 19 0.112426035502959 TRUE TRUE +ENSG00000182670.13 . BCM GRCh38.p13 chr21 37197636 37197636 + T T G Missense_Mutation SNP ENST00000399017.6 exon43 c.T5646G p.S1882R exonic ENSG00000182670.13 . nonsynonymous SNV ENSG00000182670.13:ENST00000399017.6:exon43:c.T5646G:p.S1882R 21q22.13 C3N-00646 . . . . . . . . . 3.20 D D P P N N L T N 0.567 T T T 0.178 0.299 0.455 0.436 T T T T D T 2.617 22.700 0.997 N N -0.353 1.488 -0.461 1.266 0.998 0.732 0.744 0.710 0.728 . 5.170 -3.700 -0.128 1.138 0.665 0.026 0.999 0.998 895 . . . . TTC3 299 1 181 28 0.133971291866029 TRUE TRUE +ENSG00000100109.17 . BCM GRCh38.p13 chr22 26496852 26496852 + T T A Missense_Mutation SNP ENST00000407690.6 exon11 c.A1474T p.I492F exonic ENSG00000100109.17 . nonsynonymous SNV ENSG00000100109.17:ENST00000407690.6:exon11:c.A1474T:p.I492F 22q12.1 C3N-00646 . . . . . . . . . 3.20 T T B B D N L T N 0.712 T T T 0.115 0.750 0.460 0.717 T T T T T D 2.089 19.930 0.933 D N -0.578 1.028 -0.488 1.221 0.999 0.672 0.702 0.702 0.711 . 5.040 2.930 2.345 0.200 0.665 0.702 0.982 0.996 978 GC-rich_sequence_DNA-binding_factor-like_domain . . . TFIP11 126 0 157 25 0.137362637362637 TRUE TRUE +ENSG00000268104.3 . BCM GRCh38.p13 chrX 116446853 116446853 + C C G Nonsense_Mutation SNP ENST00000598581.3 exon7 c.C902G p.S301X exonic ENSG00000268104.3 . stopgain ENSG00000268104.3:ENST00000598581.3:exon7:c.C902G:p.S301X Xq23 C3N-00646 . . . . . . . . . 5.5 . . . . D A . . . 0.908 . . . . . . . . . D D . . 6.787 36 0.996 D . . . . . 1.000 . . . . . 5.620 5.620 4.596 1.025 0.599 1.000 1.000 0.988 949 . . . . SLC6A14 153 0 134 25 0.157232704402516 TRUE TRUE +ENSG00000166049.11 . BCM GRCh38.p13 chrX 151674118 151674118 + G G T Missense_Mutation SNP ENST00000370357.5 exon15 c.G2107T p.V703F exonic ENSG00000166049.11 . nonsynonymous SNV ENSG00000166049.11:ENST00000370357.5:exon15:c.G2107T:p.V703F Xq28 C3N-00646 . . . . . . . . . 2.18 D D B B . N N T N 0.078 T T T 0.046 0.202 0.043 0.127 T T T T T T 0.385 5.264 0.961 N . . . . . 0.996 . . . . . 3.080 -6.160 0.305 -0.667 -0.858 0.000 0.000 0.000 821 . . . . PASD1 291 0 380 41 0.0973871733966746 TRUE NA +ENSG00000137841.12 . BCM GRCh38.p13 chr15 40296636 40296636 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000137841.12 ENST00000260402.8:exon15:c.1487-2A>T . . 15q15.1 C3N-00646 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 3.737 25.600 0.985 D . 0.927 11.778 0.746 8.710 1.000 0.162 0.187 0.092 0.109 0.352 4.750 4.750 0.433 1.138 0.665 0.378 0.988 0.878 628 . . . . PLCB2 90 0 115 25 0.178571428571429 NA TRUE +ENSG00000172137.19 . BCM GRCh38.p13 chr16 71385575 71385575 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000172137.19 ENST00000302628.9:exon10:c.628-2A>T . . 16q22.2 C3N-00646 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.605 34 0.992 D . 1.132 19.054 0.996 18.572 1.000 0.075 0.063 0.103 0.057 0.982 6.150 6.150 7.272 1.287 0.727 1.000 0.614 0.678 345 . . . . CALB2 88 0 156 17 0.0982658959537572 TRUE TRUE +ENSG00000159445.13 . BCM GRCh38.p13 chr1 151909384 151909384 + C C T Silent SNP ENST00000368814.8 exon1 c.G75A p.P25P exonic ENSG00000159445.13 . synonymous SNV ENSG00000159445.13:ENST00000368814.8:exon1:c.G75A:p.P25P 1q21.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THEM4 107 0 136 21 0.133757961783439 TRUE TRUE +ENSG00000119185.12 . BCM GRCh38.p13 chr2 9408200 9408200 + A A G Silent SNP ENST00000360635.7 exon6 c.T294C p.D98D exonic ENSG00000119185.12 . synonymous SNV ENSG00000119185.12:ENST00000360635.7:exon6:c.T294C:p.D98D 2p25.1 C3N-00646 . . . . . . . . rs201976301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGB1BP1 145 0 88 21 0.192660550458716 TRUE NA +ENSG00000115956.10 . BCM GRCh38.p13 chr2 68382588 68382588 + C C T Silent SNP ENST00000234313.8 exon4 c.C427T p.L143L exonic ENSG00000115956.10 . synonymous SNV ENSG00000115956.10:ENST00000234313.8:exon4:c.C427T:p.L143L 2p14 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEK 74 0 63 5 0.0735294117647059 TRUE TRUE +ENSG00000109323.11 . BCM GRCh38.p13 chr4 102650558 102650558 + T T C Silent SNP ENST00000647097.2 exon13 c.A1848G p.K616K exonic ENSG00000109323.11 . synonymous SNV ENSG00000109323.11:ENST00000647097.2:exon13:c.A1848G:p.K616K 4q24 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MANBA 194 0 187 27 0.126168224299065 TRUE TRUE +ENSG00000109762.16 . BCM GRCh38.p13 chr4 185342038 185342038 + T T C Silent SNP ENST00000504273.5 exon12 c.T1617C p.V539V exonic ENSG00000109762.16 . synonymous SNV ENSG00000109762.16:ENST00000504273.5:exon12:c.T1617C:p.V539V 4q35.1 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX25 77 0 90 11 0.108910891089109 TRUE NA +ENSG00000138829.12 . BCM GRCh38.p13 chr5 128335504 128335504 + G G A Silent SNP ENST00000262464.9 exon29 c.C3798T p.C1266C exonic ENSG00000138829.12 . synonymous SNV ENSG00000138829.12:ENST00000262464.9:exon29:c.C3798T:p.C1266C 5q23.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBN2 397 0 519 73 0.123310810810811 TRUE TRUE +ENSG00000255408.4 . BCM GRCh38.p13 chr5 140801281 140801281 + C C T Silent SNP ENST00000522353.3 exon1 c.C84T p.S28S exonic ENSG00000255408.4 . synonymous SNV ENSG00000255408.4:ENST00000522353.3:exon1:c.C84T:p.S28S 5q31.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65367526;OCCURENCE=1(large_intestine),1(endometrium) PCDHA3 228 1 232 35 0.131086142322097 TRUE TRUE +ENSG00000188763.5 . BCM GRCh38.p13 chr7 73435255 73435255 + C C T Silent SNP ENST00000344575.5 exon1 c.C1248T p.F416F exonic ENSG00000188763.5 . synonymous SNV ENSG00000188763.5:ENST00000344575.5:exon1:c.C1248T:p.F416F 7q11.23 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60669665;OCCURENCE=1(skin) FZD9 151 0 179 32 0.151658767772512 TRUE TRUE +ENSG00000127914.17 . BCM GRCh38.p13 chr7 92076908 92076908 + G G A Silent SNP ENST00000356239.8 exon29 c.G6666A p.K2222K exonic ENSG00000127914.17 . synonymous SNV ENSG00000127914.17:ENST00000356239.8:exon29:c.G6666A:p.K2222K 7q21.2 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AKAP9 73 0 31 8 0.205128205128205 TRUE NA +ENSG00000184956.16 . BCM GRCh38.p13 chr11 1018139 1018139 + G G T Silent SNP ENST00000421673.7 exon31 c.C4662A p.T1554T exonic ENSG00000184956.16 . synonymous SNV ENSG00000184956.16:ENST00000421673.7:exon31:c.C4662A:p.T1554T 11p15.5 C3N-00646 2.526e-05 0 0 0.0001 0.0002 1.513e-05 0 0 rs755302968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV70143201;OCCURENCE=1(large_intestine) MUC6 156 0 167 20 0.106951871657754 TRUE TRUE +ENSG00000061273.18 . BCM GRCh38.p13 chr12 47797493 47797493 + C C A Silent SNP ENST00000427332.6 exon6 c.G351T p.L117L exonic ENSG00000061273.18 . synonymous SNV ENSG00000061273.18:ENST00000427332.6:exon6:c.G351T:p.L117L 12q13.11 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDAC7 87 0 107 7 0.0614035087719298 TRUE TRUE +ENSG00000108510.10 . BCM GRCh38.p13 chr17 61987100 61987100 + A A G Silent SNP ENST00000397786.7 exon12 c.T2292C p.R764R exonic ENSG00000108510.10 . synonymous SNV ENSG00000108510.10:ENST00000397786.7:exon12:c.T2292C:p.R764R 17q23.2 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MED13 98 0 124 8 0.0606060606060606 TRUE TRUE +ENSG00000154864.12 . BCM GRCh38.p13 chr18 10704643 10704643 + G G A Silent SNP ENST00000503781.7 exon38 c.C5670T p.H1890H exonic ENSG00000154864.12 . synonymous SNV ENSG00000154864.12:ENST00000503781.7:exon38:c.C5670T:p.H1890H 18p11.22 C3N-00646 . . . . . . . . rs866759573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIEZO2 102 0 154 25 0.139664804469274 TRUE NA +ENSG00000053747.16 . BCM GRCh38.p13 chr18 23890047 23890047 + C C T Silent SNP ENST00000313654.13 exon42 c.C5340T p.F1780F exonic ENSG00000053747.16 . synonymous SNV ENSG00000053747.16:ENST00000313654.13:exon42:c.C5340T:p.F1780F 18q11.2 C3N-00646 0.0002 0 8.639e-05 0 0 0.0004 0 0 rs138524783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99334025;OCCURENCE=1(large_intestine) LAMA3 435 1 549 34 0.0583190394511149 TRUE NA +ENSG00000130383.7 . BCM GRCh38.p13 chr19 5867579 5867579 + A A T Silent SNP ENST00000588525.1 exon2 c.T147A p.L49L exonic ENSG00000130383.7 . synonymous SNV ENSG00000130383.7:ENST00000588525.1:exon2:c.T147A:p.L49L 19p13.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FUT5 391 0 502 47 0.0856102003642987 TRUE TRUE +ENSG00000068323.17 . BCM GRCh38.p13 chrX 49043113 49043113 + G G T Silent SNP ENST00000315869.8 exon1 c.C114A p.L38L exonic ENSG00000068323.17 . synonymous SNV ENSG00000068323.17:ENST00000315869.8:exon1:c.C114A:p.L38L Xp11.23 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TFE3 51 0 69 11 0.1375 TRUE TRUE +ENSG00000154222.14 . BCM GRCh38.p13 chr1 52353128 52353133 + ATCTCT ATCTCT - 3'UTR DEL NA NA NA NA UTR3 ENSG00000154222.14 ENST00000371586.6:c.*391_*386delAGAGAT . . 1p32.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CC2D1B 105 0 112 21 0.157894736842105 TRUE NA +ENSG00000115827.14 . BCM GRCh38.p13 chr2 171481716 171481716 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000115827.14 ENST00000375255.8:c.*602T>C . . 2q31.1 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCAF17 131 0 22 4 0.153846153846154 TRUE NA +ENSG00000169519.21 . BCM GRCh38.p13 chr11 28328124 28328124 + C C T Intron SNP NA NA NA NA intronic ENSG00000169519.21 . . . 11p14.1 C3N-00646 8.265e-06 9.703e-05 0 0 0 0 0 0 rs768331835 0.5 . . . . . N . . . 0.006 . . . . . . . . . T T . . -0.073 0.942 0.715 N N -0.732 0.759 -0.953 0.549 0.000 0.615 0.588 0.618 0.655 . 2.650 -1.470 -0.505 -0.377 0.599 0.000 0.000 0.005 526 . . . . METTL15 142 0 58 7 0.107692307692308 TRUE NA +ENSG00000156858.11 . BCM GRCh38.p13 chr16 30662466 30662466 + A A G IGR SNP NA NA NA NA intergenic ENSG00000156858.11;ENSG00000156860.16 dist=6053;dist=1991 . . 16p11.2 C3N-00646 . . . . . . . . . 6.15 D T . . U D . T N 0.170 T T D 0.114 0.232 0.547 2.308 . . T T D T 3.105 23.600 0.963 D D 0.911 11.340 0.738 8.526 1.000 0.672 0.672 0.494 0.711 . 4.710 4.710 4.506 1.207 0.691 1.000 1.000 0.996 32 . . . . PRR14 129 0 193 28 0.126696832579186 TRUE NA +ENSG00000197912.16 . BCM GRCh38.p13 chr16 89549224 89549224 + A A - Intron SNP NA NA NA NA intronic ENSG00000197912.16 . . . 16q24.3 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPG7 133 0 143 16 0.10062893081761 TRUE TRUE +ENSG00000124466.9 . BCM GRCh38.p13 chr19 43463595 43463595 + G G T Intron SNP NA NA NA NA intronic ENSG00000124466.9 . . . 19q13.31 C3N-00646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LYPD3 402 0 484 74 0.132616487455197 TRUE NA +ENSG00000158825.6 . BCM GRCh38.p13 chr1 20613893 20613893 + G G A Missense_Mutation SNP ENST00000375071.4 exon3 c.G318A p.M106I exonic ENSG00000158825.6 . nonsynonymous SNV ENSG00000158825.6:ENST00000375071.4:exon3:c.G318A:p.M106I 1p36.12 C3N-00733 . . . . . . . . . 6.20 T T B B D D N T N 0.663 T T T 0.106 0.600 0.261 0.091 T T T T D D 2.834 23.100 0.962 D D -0.171 1.958 0.070 2.616 1.000 0.675 0.590 0.693 0.479 . 5.380 5.380 6.857 1.176 0.618 1.000 1.000 0.999 844 APOBEC/CMP_deaminase,_zinc-binding;Cytidine_and_deoxycytidylate_deaminase_domain . . ID=COSV66751646;OCCURENCE=1(urinary_tract),2(thyroid) CDA 259 0 244 27 0.0996309963099631 TRUE TRUE +ENSG00000143341.12 . BCM GRCh38.p13 chr1 186078217 186078217 + C C A Missense_Mutation SNP ENST00000271588.9 exon55 c.C8596A p.L2866I exonic ENSG00000143341.12 . nonsynonymous SNV ENSG00000143341.12:ENST00000271588.9:exon55:c.C8596A:p.L2866I 1q31.1 C3N-00733 . . . . . . . . . 12.19 D D D D D D M T N 0.433 T D D 0.379 0.435 0.772 0.463 T . T T D T 3.050 23.500 0.995 D D 0.520 5.194 0.497 5.135 1.000 0.638 0.573 0.653 0.668 . 5.500 5.500 3.863 1.026 0.599 0.998 0.981 0.720 417 Immunoglobulin_subtype . . . HMCN1 258 2 328 26 0.0734463276836158 TRUE TRUE +ENSG00000143341.12 . BCM GRCh38.p13 chr1 186137650 186137657 + CAAAATAA CAAAATAA - Frame_Shift_Del DEL ENST00000271588.9 exon88 c.13735_13742del p.Q4579Afs*7 exonic ENSG00000143341.12 . frameshift deletion ENSG00000143341.12:ENST00000271588.9:exon88:c.13735_13742del:p.Q4579Afs*7 1q31.1 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMCN1 473 0 507 86 0.145025295109612 TRUE TRUE +ENSG00000197635.10 . BCM GRCh38.p13 chr2 162005767 162005767 + T T A Missense_Mutation SNP ENST00000360534.8 exon23 c.A2030T p.E677V exonic ENSG00000197635.10 . nonsynonymous SNV ENSG00000197635.10:ENST00000360534.8:exon23:c.A2030T:p.E677V 2q24.2 C3N-00733 . . . . . . . . . 6.20 T T B B N D M T D 0.446 T T T 0.103 0.577 0.399 0.283 T T T T D T 3.452 24.600 0.987 D D -0.024 2.427 0.147 2.937 0.999 0.706 0.634 0.710 0.655 . 5.990 5.990 0.877 1.138 0.665 0.996 1.000 0.961 499 Peptidase_S9,_prolyl_oligopeptidase,_catalytic_domain . . . DPP4 168 0 147 24 0.140350877192982 TRUE TRUE +ENSG00000081479.15 . BCM GRCh38.p13 chr2 169257212 169257212 + T T C Missense_Mutation SNP ENST00000649046.1 exon18 c.A2551G p.I851V exonic ENSG00000081479.15 . nonsynonymous SNV ENSG00000081479.15:ENST00000649046.1:exon18:c.A2551G:p.I851V 2q31.1 C3N-00733 . . . . . . . . . 14.20 D D P P D D M D N 0.406 D D D 0.757 0.654 0.722 0.732 T T D D D T 3.418 24.500 0.999 D D 0.652 6.493 0.644 6.814 1.000 0.554 0.574 0.602 0.530 . 5.290 5.290 6.157 1.138 0.609 1.000 1.000 0.995 893 . . . . LRP2 363 0 261 59 0.184375 TRUE TRUE +ENSG00000182973.18 . BCM GRCh38.p13 chr3 32734976 32734976 + G G A Missense_Mutation SNP ENST00000328834.9 exon12 c.G1514A p.S505N exonic ENSG00000182973.18 . nonsynonymous SNV ENSG00000182973.18:ENST00000328834.9:exon12:c.G1514A:p.S505N 3p22.3 C3N-00733 . . . . . . . . . 6.20 T T P B D D M T N 0.475 T T T 0.176 0.158 0.117 0.241 T T T T D T 5.240 33 0.994 D D 0.444 4.627 0.557 5.725 1.000 0.731 0.725 0.750 0.714 . 5.460 5.460 9.796 1.176 0.676 1.000 1.000 0.999 701 . . . . CNOT10 67 0 42 11 0.207547169811321 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52589241 52589241 + C C A Nonsense_Mutation SNP ENST00000296302.11 exon18 c.G2794T p.E932X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon18:c.G2794T:p.E932X 3p21.1 C3N-00733 . . . . . . . . . 5.6 . . . . D A . . . 0.918 . . . . . . . . . D D . . 8.520 43 0.997 D N 1.079 16.636 0.942 15.667 1.000 0.706 0.725 0.710 0.714 . 5.270 5.270 7.792 1.026 0.549 1.000 1.000 0.998 27 . . . . PBRM1 41 0 35 8 0.186046511627907 TRUE TRUE +ENSG00000121871.4 . BCM GRCh38.p13 chr3 165190174 165190174 + G G T Missense_Mutation SNP ENST00000475390.2 exon2 c.C657A p.H219Q exonic ENSG00000121871.4 . nonsynonymous SNV ENSG00000121871.4:ENST00000475390.2:exon2:c.C657A:p.H219Q 3q26.1 C3N-00733 . . . . . . . . . 8.20 T D P P N D L T D 0.438 T T T 0.104 0.268 0.316 0.642 D T T T D D 2.492 22.400 0.968 D D -0.050 2.339 0.004 2.374 0.051 0.554 0.590 0.602 0.564 . 5.860 2.700 0.823 -0.251 -0.127 1.000 0.998 0.996 902 . . . . SLITRK3 185 0 193 37 0.160869565217391 TRUE TRUE +ENSG00000184985.16 . BCM GRCh38.p13 chr4 7723838 7723838 + A A T Missense_Mutation SNP ENST00000507866.6 exon19 c.A2566T p.N856Y exonic ENSG00000184985.16 . nonsynonymous SNV ENSG00000184985.16:ENST00000507866.6:exon19:c.A2566T:p.N856Y 4p16.1 C3N-00733 . . . . . . . . . 14.20 D D D D U D M T D 0.972 T T D 0.739 0.804 0.960 0.697 T T D D D D 3.594 25.000 0.992 D D 0.443 4.625 0.286 3.637 1.000 0.615 0.588 0.659 0.613 . 2.820 2.820 8.472 1.298 0.674 1.000 0.902 0.053 988 PKD/Chitinase_domain;PKD_domain . . . SORCS2 153 0 111 35 0.23972602739726 TRUE TRUE +ENSG00000109265.14 . BCM GRCh38.p13 chr4 56315841 56315841 + G G A Missense_Mutation SNP ENST00000264229.11 exon8 c.G2339A p.R780Q exonic ENSG00000109265.14 . nonsynonymous SNV ENSG00000109265.14:ENST00000264229.11:exon8:c.G2339A:p.R780Q 4q12 C3N-00733 8.313e-06 0 0 0 0 0 0 6.057e-05 rs761571893 0.19 T T B B . N N T N 0.029 T T T 0.031 0.178 0.076 0.569 T T T T T T 0.123 2.306 0.915 N N -1.484 0.086 -1.519 0.101 0.009 0.706 0.574 0.710 0.655 . 4.540 -4.790 -0.238 -0.271 -0.254 0.000 0.016 0.318 283 . . . ID=COSV51721568;OCCURENCE=2(skin) CRACD 325 0 264 42 0.137254901960784 TRUE TRUE +ENSG00000152591.15 . BCM GRCh38.p13 chr4 87615859 87615859 + G G A Missense_Mutation SNP ENST00000651931.1 exon5 c.G3197A p.S1066N exonic ENSG00000152591.15 . nonsynonymous SNV ENSG00000152591.15:ENST00000651931.1:exon5:c.G3197A:p.S1066N 4q22.1 C3N-00733 . . . . . . . . . 2.17 . T B B . N L D N 0.266 T T D 0.202 0.284 0.248 . . T T T T T 0.650 7.990 0.541 N N -1.414 0.111 -1.485 0.113 0.000 0.487 0.574 0.547 0.567 . 1.380 0.503 0.551 -0.099 -0.213 0.001 0.000 0.001 500 . . . . DSPP 587 0 614 103 0.143654114365411 NA TRUE +ENSG00000176979.14 . BCM GRCh38.p13 chr4 165040560 165040560 + T T C Missense_Mutation SNP ENST00000512596.6 exon3 c.T488C p.I163T exonic ENSG00000176979.14 . nonsynonymous SNV ENSG00000176979.14:ENST00000512596.6:exon3:c.T488C:p.I163T 4q32.3 C3N-00733 . . . . . . . . . 0.20 T T B B N N N T N 0.028 T T T 0.041 0.410 0.226 0.044 T T T T T T -0.582 0.080 0.274 N N -1.546 0.068 -1.547 0.091 0.000 0.487 0.590 0.547 0.564 . 2.310 -2.800 -2.702 -0.349 -0.133 0.000 0.012 0.961 969 . . . . TRIM60 135 0 73 18 0.197802197802198 TRUE TRUE +ENSG00000113430.10 . BCM GRCh38.p13 chr5 1878680 1878680 + G G T Missense_Mutation SNP ENST00000231357.7 exon5 c.C849A p.D283E exonic ENSG00000113430.10 . nonsynonymous SNV ENSG00000113430.10:ENST00000231357.7:exon5:c.C849A:p.D283E 5p15.33 C3N-00733 . . . . . . . . . 1.20 T T B B N N M T N 0.052 T T T 0.039 0.210 0.402 0.524 T T T T T T 0.027 1.517 0.973 N N -1.308 0.160 -1.394 0.154 1.000 0.598 0.563 0.607 0.639 . 3.510 -1.700 -1.485 0.152 0.606 0.000 0.195 0.323 994 . . . ID=COSV99180752;OCCURENCE=1(lung) IRX4 177 0 327 153 0.31875 TRUE TRUE +ENSG00000151388.11 . BCM GRCh38.p13 chr5 33549335 33549335 + C C T Missense_Mutation SNP ENST00000504830.6 exon21 c.G4174A p.V1392M exonic ENSG00000151388.11 . nonsynonymous SNV ENSG00000151388.11:ENST00000504830.6:exon21:c.G4174A:p.V1392M 5p13.3 C3N-00733 8.253e-06 0 0 0 0 1.502e-05 0 0 rs777630888 0.20 T T B B N N L T N 0.357 T T T 0.033 0.263 0.583 0.206 T T T T T T 1.474 15.570 0.987 N N -0.534 1.111 -0.445 1.293 0.983 0.638 0.670 0.659 0.621 . 5.160 1.050 0.026 -1.251 -0.181 0.898 0.923 0.991 904 . . . ID=COSV100711434;OCCURENCE=1(stomach),1(pancreas) ADAMTS12 132 0 108 37 0.255172413793103 TRUE NA +ENSG00000152669.9 . BCM GRCh38.p13 chr5 55231688 55231688 + G G T Missense_Mutation SNP ENST00000282572.5 exon3 c.C740A p.A247E exonic ENSG00000152669.9 . nonsynonymous SNV ENSG00000152669.9:ENST00000282572.5:exon3:c.C740A:p.A247E 5q11.2 C3N-00733 . . . . . . . . . 5.20 D D P P N N M T N 0.150 T T T 0.065 0.304 0.751 1.000 T T T T D T 2.890 23.200 0.993 D N 0.024 2.597 -0.002 2.351 1.000 0.598 0.596 0.607 0.619 . 5.310 4.440 3.130 1.176 0.618 0.390 0.861 0.943 553 Cyclin,_C-terminal_domain;Cyclin-like . . . CCNO 252 0 228 49 0.176895306859206 TRUE TRUE +ENSG00000095015.6 . BCM GRCh38.p13 chr5 56865385 56865385 + G G C Missense_Mutation SNP ENST00000399503.4 exon5 c.G1081C p.V361L exonic ENSG00000095015.6 . nonsynonymous SNV ENSG00000095015.6:ENST00000399503.4:exon5:c.G1081C:p.V361L 5q11.2 C3N-00733 . . . . . . . . . 16.20 D D D D D D N T N 0.714 D D D 0.627 0.555 0.889 0.231 D T D D D D 3.815 25.900 0.997 D D 0.785 8.492 0.768 9.231 1.000 0.651 0.709 0.659 0.684 . 5.320 5.320 8.555 1.176 0.676 1.000 0.964 0.976 896 Zinc_finger,_SWIM-type . . . MAP3K1 225 0 193 53 0.215447154471545 TRUE TRUE +ENSG00000249158.7 . BCM GRCh38.p13 chr5 140869327 140869327 + T T G Missense_Mutation SNP ENST00000398640.7 exon1 c.T224G p.L75R exonic ENSG00000249158.7 . nonsynonymous SNV ENSG00000249158.7:ENST00000398640.7:exon1:c.T224G:p.L75R 5q31.3 C3N-00733 . . . . . . . . . 14.18 D D D D . D H T D 0.897 T T D 0.494 0.856 0.838 1.150 . T D D D D 4.204 28.700 0.997 D D 0.849 9.821 0.758 8.995 1.000 0.554 0.588 0.522 0.584 . 5.590 5.590 3.247 1.049 0.665 0.999 1.000 0.981 46 Cadherin-like;Cadherin,_N-terminal . . . PCDHA11 661 0 874 146 0.143137254901961 NA TRUE +ENSG00000123545.6 . BCM GRCh38.p13 chr6 96891290 96891290 + A A C Missense_Mutation SNP ENST00000316149.8 exon3 c.T342G p.I114M exonic ENSG00000123545.6 . nonsynonymous SNV ENSG00000123545.6:ENST00000316149.8:exon3:c.T342G:p.I114M 6q16.1 C3N-00733 . . . . . . . . . 14.20 D D D D D D M D N 0.341 T D D 0.432 0.777 0.805 0.596 T T D T D D 2.425 22.200 0.993 D N 0.176 3.197 0.051 2.541 0.811 0.732 0.744 0.744 0.728 . 5.270 1.230 1.567 1.312 0.756 1.000 0.903 0.647 587 . . . . NDUFAF4 255 1 165 33 0.166666666666667 TRUE TRUE +ENSG00000105877.18 . BCM GRCh38.p13 chr7 21899356 21899356 + - NA ATGCC Frame_Shift_Ins INS ENST00000409508.8 exon80 c.13070_13071insATGCC p.R4359Hfs*30 exonic ENSG00000105877.18 . frameshift insertion ENSG00000105877.18:ENST00000409508.8:exon80:c.13070_13071insATGCC:p.R4359Hfs*30 7p15.3 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH11 NA NA NA NA NA NA NA +ENSG00000055609.18 . BCM GRCh38.p13 chr7 152144777 152144777 + G G C Missense_Mutation SNP ENST00000262189.11 exon55 c.C14279G p.S4760W exonic ENSG00000055609.18 . nonsynonymous SNV ENSG00000055609.18:ENST00000262189.11:exon55:c.C14279G:p.S4760W 7q36.1 C3N-00733 . . . . . . . . . 19.20 D D D D U D M D D 0.815 D D D 0.788 0.590 0.962 2.673 D D D D D D 4.444 31 0.979 D D 0.763 8.107 0.702 7.783 1.000 0.707 0.725 0.702 0.692 . 5.310 5.310 10.003 1.176 0.676 1.000 0.517 0.971 759 . . . . KMT2C 126 0 133 17 0.113333333333333 TRUE TRUE +ENSG00000023839.12 . BCM GRCh38.p13 chr10 99841958 99841980 + GCCCCACAGGTGGCTTGCAATTC GCCCCACAGGTGGCTTGCAATTC - Frame_Shift_Del DEL ENST00000647814.1 exon26 c.3615_3628del p.W1206Pfs*20 exonic ENSG00000023839.12 . frameshift deletion ENSG00000023839.12:ENST00000647814.1:exon26:c.3615_3628del:p.W1206Pfs*20 10q24.2 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCC2 578 0 525 65 0.110169491525424 TRUE TRUE +ENSG00000150760.12 . BCM GRCh38.p13 chr10 127362087 127362087 + C C A Missense_Mutation SNP ENST00000280333.9 exon33 c.C3244A p.P1082T exonic ENSG00000150760.12 . nonsynonymous SNV ENSG00000150760.12:ENST00000280333.9:exon33:c.C3244A:p.P1082T 10q26.2 C3N-00733 . . . . . . . . . 17.20 D D D D D D M T D 0.952 T T D 0.607 0.736 0.847 0.635 D D D D D D 3.842 26.000 0.998 D D 0.842 9.666 0.811 10.456 1.000 0.732 0.574 0.710 0.728 . 5.150 5.150 7.814 1.026 0.599 1.000 0.999 0.999 926 . . . . DOCK1 110 0 80 16 0.166666666666667 TRUE TRUE +ENSG00000186907.8 . BCM GRCh38.p13 chr11 57476468 57476468 + G G A Missense_Mutation SNP ENST00000335099.8 exon3 c.G820A p.A274T exonic ENSG00000186907.8 . nonsynonymous SNV ENSG00000186907.8:ENST00000335099.8:exon3:c.G820A:p.A274T 11q12.1 C3N-00733 . . . . . . . . . 6.20 T T P B U D L T N 0.263 T T D 0.140 0.394 0.243 1.412 D T T T D T 2.994 23.400 0.997 D D 0.193 3.273 0.278 3.592 1.000 0.767 0.219 0.851 0.555 . 4.360 4.360 6.425 0.986 0.506 1.000 1.000 0.997 71 Cysteine-rich_flanking_region,_C-terminal . . . RTN4RL2 108 0 84 24 0.222222222222222 TRUE TRUE +ENSG00000168439.17 . BCM GRCh38.p13 chr11 64203555 64203555 + A A C Missense_Mutation SNP ENST00000305218.9 exon13 c.A1492C p.I498L exonic ENSG00000168439.17 . nonsynonymous SNV ENSG00000168439.17:ENST00000305218.9:exon13:c.A1492C:p.I498L 11q13.1 C3N-00733 . . . . . . . . . 12.20 D D D D D D M T N 0.664 T T D 0.296 0.165 0.323 1.360 D T T T D T 4.253 29.200 0.995 D D 0.836 9.527 0.797 10.029 1.000 0.722 0.699 0.702 0.714 . 5.360 5.360 8.613 1.228 0.587 1.000 1.000 0.996 596 Heat_shock_chaperonin-binding . . . STIP1 350 1 280 71 0.202279202279202 NA TRUE +ENSG00000204710.2 . BCM GRCh38.p13 chr11 65171335 65171335 + G G T Missense_Mutation SNP ENST00000377185.2 exon2 c.G35T p.C12F exonic ENSG00000204710.2 . nonsynonymous SNV ENSG00000204710.2:ENST00000377185.2:exon2:c.G35T:p.C12F 11q13.1 C3N-00733 . . . . . . . . . 1.19 D T B B U N N . N 0.161 T T T 0.067 0.509 0.030 0.296 T T T T T T 1.162 13.330 0.900 N N -1.075 0.330 -1.140 0.337 1.000 0.554 0.547 0.602 0.613 . 4.310 -2.230 -0.917 1.002 -0.159 0.000 0.349 0.007 411 . . . . SPDYC 70 0 67 11 0.141025641025641 TRUE TRUE +ENSG00000173621.9 . BCM GRCh38.p13 chr11 66858084 66858084 + G G A Missense_Mutation SNP ENST00000309602.5 exon1 c.G340A p.G114R exonic ENSG00000173621.9 . nonsynonymous SNV ENSG00000173621.9:ENST00000309602.5:exon1:c.G340A:p.G114R 11q13.2 C3N-00733 1.7e-05 0 0 0.0001 0 1.559e-05 0 0 rs773088818 2.20 T T B B N D L T N 0.202 T T D 0.046 0.457 0.231 1.505 T T T T T T 1.262 14.110 0.811 N N -0.663 0.876 -0.688 0.917 1.000 0.726 0.663 0.594 0.563 . 4.170 2.250 1.616 0.193 0.526 0.031 0.172 0.014 300 . . . . LRFN4 91 0 56 14 0.2 TRUE NA +ENSG00000162129.14 . BCM GRCh38.p13 chr11 72380332 72380332 + A A T Missense_Mutation SNP ENST00000294053.9 exon4 c.T595A p.F199I exonic ENSG00000162129.14 . nonsynonymous SNV ENSG00000162129.14:ENST00000294053.9:exon4:c.T595A:p.F199I 11q13.4 C3N-00733 . . . . . . . . . 14.20 D D D D D D L T D 0.642 T T D 0.370 0.396 0.716 1.388 T T D D D D 4.034 27.200 0.992 D D 0.443 4.623 0.501 5.166 0.996 0.745 0.725 0.710 0.762 . 5.890 4.760 7.726 1.312 0.756 1.000 0.997 0.993 636 Ankyrin_repeat-containing_domain . . . CLPB 206 0 185 49 0.209401709401709 TRUE TRUE +ENSG00000173064.13 . BCM GRCh38.p13 chr12 112179058 112179075 + TTGGCACGCCATACTTCC TTGGCACGCCATACTTCC - In_Frame_Del DEL ENST00000377560.9 exon64 c.11213_11230del p.R3738_P3743del exonic ENSG00000173064.13 . nonframeshift deletion ENSG00000173064.13:ENST00000377560.9:exon64:c.11213_11230del:p.R3738_P3743del 12q24.13 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HECTD4 203 0 168 28 0.142857142857143 TRUE TRUE +ENSG00000184992.13 . BCM GRCh38.p13 chr12 124993909 124993909 + G G C Missense_Mutation SNP ENST00000341446.9 exon1 c.G119C p.G40A exonic ENSG00000184992.13 . nonsynonymous SNV ENSG00000184992.13:ENST00000341446.9:exon1:c.G119C:p.G40A 12q24.31 C3N-00733 . . . . . . . . . 1.19 T T B B N N N . N 0.078 T T D 0.030 0.115 0.088 0.722 T T T T T T 1.564 16.150 0.887 N N -0.989 0.416 -0.874 0.655 1.000 0.652 0.484 0.641 0.568 . 2.300 -0.195 0.212 -0.015 0.393 0.016 0.534 0.859 964 . . . . BRI3BP 32 0 27 8 0.228571428571429 TRUE TRUE +ENSG00000137812.20 . BCM GRCh38.p13 chr15 40625488 40625501 + TACCAAAAAGAGAT TACCAAAAAGAGAT - Frame_Shift_Del DEL ENST00000346991.9 exon11 c.5302_5315del p.Y1768Ffs*4 exonic ENSG00000137812.20 . frameshift deletion ENSG00000137812.20:ENST00000346991.9:exon11:c.5302_5315del:p.Y1768Ffs*4 15q15.1 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KNL1 150 0 95 10 0.0952380952380952 TRUE TRUE +ENSG00000008710.20 . BCM GRCh38.p13 chr16 2100309 2100309 + C C T Missense_Mutation SNP ENST00000262304.9 exon28 c.G9569A p.G3190E exonic ENSG00000008710.20 . nonsynonymous SNV ENSG00000008710.20:ENST00000262304.9:exon28:c.G9569A:p.G3190E 16p13.3 C3N-00733 . . . . . . . . . 19.20 D D D D D D M T D 0.886 D D D 0.868 0.779 0.918 . D D D D D D 3.807 25.900 0.995 D D 0.732 7.584 0.612 6.383 0.871 0.672 0.702 0.644 0.636 . 4.840 3.880 5.453 0.944 0.593 1.000 0.477 0.103 735 PLAT/LH2_domain . . . PKD1 692 0 781 133 0.145514223194748 NA TRUE +ENSG00000166869.3 . BCM GRCh38.p13 chr16 23755092 23755092 + G G T Missense_Mutation SNP ENST00000300113.3 exon1 c.G43T p.D15Y exonic ENSG00000166869.3 . nonsynonymous SNV ENSG00000166869.3:ENST00000300113.3:exon1:c.G43T:p.D15Y 16p12.2 C3N-00733 . . . . . . . . . 5.20 D D P B N N L T D 0.285 T T D 0.229 0.402 0.820 0.240 T T T T D T 3.663 25.300 0.982 N N -0.156 2.004 -0.134 1.953 1.000 0.658 0.563 0.619 0.530 . 4.230 3.240 3.392 1.058 0.618 0.727 0.953 0.939 878 . . . . CHP2 112 0 120 15 0.111111111111111 TRUE TRUE +ENSG00000090905.19 . BCM GRCh38.p13 chr16 24804303 24804303 + A A G Missense_Mutation SNP ENST00000395799.8 exon12 c.A3821G p.N1274S exonic ENSG00000090905.19 . nonsynonymous SNV ENSG00000090905.19:ENST00000395799.8:exon12:c.A3821G:p.N1274S 16p12.1 C3N-00733 9.933e-05 0 0 0.0001 0 0.0002 0 6.069e-05 rs201242089 2.20 T T B B N D N T N 0.046 T T T 0.219 . 0.139 0.072 T T T T T D 0.997 11.590 0.573 N N -0.798 0.658 -0.572 1.089 0.073 0.707 0.725 0.725 0.714 . 6.080 1.400 1.541 -0.618 -0.274 1.000 0.988 0.996 345 . . . ID=COSV59370686;OCCURENCE=1(kidney) TNRC6A 193 0 254 40 0.136054421768707 TRUE TRUE +ENSG00000187688.15 . BCM GRCh38.p13 chr17 16423509 16423509 + G G A Nonsense_Mutation SNP ENST00000338560.12 exon5 c.G666A p.W222X exonic ENSG00000187688.15 . stopgain ENSG00000187688.15:ENST00000338560.12:exon5:c.G666A:p.W222X 17p11.2 C3N-00733 8.367e-06 0 0 0 0 1.518e-05 0 0 rs369223814 6.7 . . . . D D . . . 0.956 . . . . . . . . . D D D . 7.286 37 0.995 D N 0.956 12.597 0.831 11.108 0.958 0.706 0.698 0.608 0.613 . 6.170 6.170 -0.223 1.176 0.676 0.555 1.000 0.991 862 Ankyrin_repeat-containing_domain . . . TRPV2 88 0 69 13 0.158536585365854 TRUE NA +ENSG00000166484.20 . BCM GRCh38.p13 chr17 19383101 19383101 + C C T Missense_Mutation SNP ENST00000395604.8 exon7 c.C2321T p.S774L exonic ENSG00000166484.20 . nonsynonymous SNV ENSG00000166484.20:ENST00000395604.8:exon7:c.C2321T:p.S774L 17p11.2 C3N-00733 . . . . . . . . . 13.20 D D B B D D L D N 0.691 T D D 0.477 0.269 0.918 1.160 T T D D D D 3.245 24.000 0.999 D D 0.074 2.784 0.219 3.278 1.000 0.672 0.702 0.698 0.711 . 5.600 4.630 5.379 1.026 0.549 1.000 1.000 0.998 725 . . . . MAPK7 109 0 88 24 0.214285714285714 TRUE TRUE +ENSG00000108582.12 . BCM GRCh38.p13 chr17 30422961 30422961 + C C A Nonsense_Mutation SNP ENST00000225719.9 exon5 c.C1595A p.S532X exonic ENSG00000108582.12 . stopgain ENSG00000108582.12:ENST00000225719.9:exon5:c.C1595A:p.S532X 17q11.2 C3N-00733 . . . . . . . . . 5.6 . . . . D A . . . 0.932 . . . . . . . . . D D . . 6.847 36 0.995 D N 0.866 10.217 0.761 9.062 0.993 0.707 0.654 0.725 0.714 . 5.830 5.830 3.016 1.011 0.581 0.994 0.999 0.998 593 Carboxypeptidase_D,__carboxypeptidase-like_domain_2;Peptidase_M14,_carboxypeptidase_A . . . CPD 129 0 112 17 0.131782945736434 TRUE TRUE +ENSG00000134444.14 . BCM GRCh38.p13 chr18 62298827 62298827 + A A C Missense_Mutation SNP ENST00000398130.6 exon28 c.A3497C p.K1166T exonic ENSG00000134444.14 . nonsynonymous SNV ENSG00000134444.14:ENST00000398130.6:exon28:c.A3497C:p.K1166T 18q21.33 C3N-00733 . . . . . . . . . 14.19 D D D D D D . T D 0.600 T T D 0.456 0.271 0.187 1.927 T T D D D D 4.164 28.300 0.998 D D 0.744 7.789 0.743 8.639 1.000 0.732 0.744 0.710 0.728 . 5.520 5.520 8.827 1.312 0.756 1.000 1.000 0.999 979 . . . . RELCH 156 0 94 5 0.0505050505050505 TRUE TRUE +ENSG00000119559.17 . BCM GRCh38.p13 chr19 1475187 1475187 + C C A Missense_Mutation SNP ENST00000585675.6 exon3 c.G202T p.A68S exonic ENSG00000119559.17 . nonsynonymous SNV ENSG00000119559.17:ENST00000585675.6:exon3:c.G202T:p.A68S 19p13.3 C3N-00733 . . . . . . . . . 0.18 T T B B N N L . N 0.105 T T T 0.024 0.186 0.048 0.102 . T T T T T -0.003 1.315 0.834 N N -1.045 0.358 -1.056 0.422 0.997 0.672 0.702 0.644 0.636 . 4.510 -2.270 -1.858 0.064 0.580 0.000 0.978 0.383 964 . . . . C19orf25 163 0 135 26 0.161490683229814 TRUE TRUE +ENSG00000213020.10 . BCM GRCh38.p13 chr19 52705657 52705657 + A A C Missense_Mutation SNP ENST00000652185.1 exon6 c.T1398G p.S466R exonic ENSG00000213020.10 . nonsynonymous SNV ENSG00000213020.10:ENST00000652185.1:exon6:c.T1398G:p.S466R 19q13.41 C3N-00733 . . . . . . . . . 0.19 T T B B . N N T N 0.105 T T T 0.041 0.253 0.105 0.019 T T T T T T -1.259 0.002 0.050 N N -1.484 0.086 -1.580 0.081 0.000 0.563 0.654 0.609 0.636 . 1.240 0.124 -7.738 -1.208 -0.998 0.000 0.000 0.000 923 Zinc_finger_C2H2-type . . . ZNF611 110 0 68 22 0.244444444444444 TRUE TRUE +ENSG00000204532.6 . BCM GRCh38.p13 chr19 56207104 56207104 + G G C Missense_Mutation SNP ENST00000534327.5 exon3 c.G430C p.D144H exonic ENSG00000204532.6 . nonsynonymous SNV ENSG00000204532.6:ENST00000534327.5:exon3:c.G430C:p.D144H 19q13.43 C3N-00733 . . . . . . . . . 1.15 D T . . . N . T N 0.251 T T T 0.032 0.292 0.186 0.034 . T T T T T 1.649 16.690 0.982 N N -0.706 0.803 -0.929 0.581 0.000 0.487 0.574 0.547 0.613 . 1.340 0.220 0.364 -0.011 0.342 0.001 0.001 0.022 929 SCAN_domain . . . ZSCAN5C 149 0 173 22 0.112820512820513 NA TRUE +ENSG00000154654.15 . BCM GRCh38.p13 chr21 21432178 21432178 + C C G Missense_Mutation SNP ENST00000400546.6 exon12 c.C1551G p.N517K exonic ENSG00000154654.15 . nonsynonymous SNV ENSG00000154654.15:ENST00000400546.6:exon12:c.C1551G:p.N517K 21q21.1 C3N-00733 . . . . . . . . . 3.20 T T B B N D N T N 0.528 T T T 0.026 0.455 0.239 0.648 T T T T T D 1.674 16.860 0.976 D N -0.577 1.029 -0.405 1.364 0.000 0.554 0.574 0.618 0.613 . 5.280 1.390 0.737 0.115 0.580 1.000 0.989 0.996 998 Fibronectin_type_III . . . NCAM2 182 0 154 24 0.134831460674157 TRUE TRUE +ENSG00000182670.13 . BCM GRCh38.p13 chr21 37140637 37140637 + A A T Missense_Mutation SNP ENST00000399017.6 exon20 c.A1736T p.Y579F exonic ENSG00000182670.13 . nonsynonymous SNV ENSG00000182670.13:ENST00000399017.6:exon20:c.A1736T:p.Y579F 21q22.13 C3N-00733 . . . . . . . . . 9.20 T D D D D D N T D 0.334 T T T 0.268 0.718 0.575 0.436 T T T T D D 3.528 24.800 0.976 D N 0.135 3.028 0.243 3.403 1.000 0.732 0.744 0.710 0.728 . 5.170 5.170 2.518 1.312 0.756 1.000 1.000 0.997 915 Tetratricopeptide_repeat-containing_domain . . . TTC3 103 0 130 20 0.133333333333333 TRUE TRUE +ENSG00000102100.16 . BCM GRCh38.p13 chrX 48911551 48911551 + C C T Missense_Mutation SNP ENST00000247138.11 exon1 c.G86A p.S29N exonic ENSG00000102100.16 . nonsynonymous SNV ENSG00000102100.16:ENST00000247138.11:exon1:c.G86A:p.S29N Xp11.23 C3N-00733 . . . . . . . . . 4.19 D D B B N N N T N 0.128 T T D 0.018 0.282 0.103 0.839 T T T T T T 1.665 16.790 0.946 D . . . . . 1.000 . . . . . 4.930 2.130 0.754 0.088 0.599 0.837 0.010 0.222 45 . . . . SLC35A2 193 0 138 77 0.358139534883721 TRUE TRUE +ENSG00000196632.10 . BCM GRCh38.p13 chrX 54333292 54333292 + C C T Missense_Mutation SNP ENST00000354646.6 exon2 c.G382A p.E128K exonic ENSG00000196632.10 . nonsynonymous SNV ENSG00000196632.10:ENST00000354646.6:exon2:c.G382A:p.E128K Xp11.22 C3N-00733 . . . . . . . . . 12.19 D D D D D D M T D 0.262 T T D 0.227 0.253 0.553 0.507 T T T T D D 3.529 24.800 0.999 D . . . . . 0.948 . . . . . 5.100 5.100 4.571 1.024 0.549 1.000 1.000 0.997 70 . . . . WNK3 87 0 44 18 0.290322580645161 TRUE TRUE +ENSG00000130829.18 . BCM GRCh38.p13 chrX 153648267 153648267 + T T - Frame_Shift_Del DEL ENST00000342782.4 exon2 c.314delT p.V105Gfs*79 exonic ENSG00000130829.18 . frameshift deletion ENSG00000130829.18:ENST00000342782.4:exon2:c.314delT:p.V105Gfs*79 Xq28 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP9 68 0 53 34 0.390804597701149 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142188 10142188 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon1:c.340+1G>T . . 3p25.3 C3N-00733 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.136 35 0.994 D . 1.008 14.169 0.842 11.484 1.000 0.090 0.098 0.050 0.088 0.983 5.080 5.080 4.421 1.002 0.522 1.000 0.853 0.717 364 . . . ID=COSV56545042;OCCURENCE=4(kidney) VHL 243 0 156 45 0.223880597014925 TRUE TRUE +ENSG00000196862.10 . BCM GRCh38.p13 chr2 107872090 107872090 + A A T Silent SNP ENST00000408999.4 exon20 c.A4086T p.A1362A exonic ENSG00000196862.10 . synonymous SNV ENSG00000196862.10:ENST00000408999.4:exon20:c.A4086T:p.A1362A 2q12.3 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGPD4 530 1 460 128 0.217687074829932 NA TRUE +ENSG00000188994.13 . BCM GRCh38.p13 chr6 87260133 87260133 + T T G Silent SNP ENST00000369577.8 exon8 c.T6504G p.T2168T exonic ENSG00000188994.13 . synonymous SNV ENSG00000188994.13:ENST00000369577.8:exon8:c.T6504G:p.T2168T 6q14.3 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF292 127 0 83 24 0.224299065420561 TRUE TRUE +ENSG00000185920.16 . BCM GRCh38.p13 chr9 95478145 95478145 + C C T Silent SNP ENST00000331920.11 exon9 c.G1257A p.V419V exonic ENSG00000185920.16 . synonymous SNV ENSG00000185920.16:ENST00000331920.11:exon9:c.G1257A:p.V419V 9q22.32 C3N-00733 . . . . . . . . rs1060504535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTCH1 503 0 327 108 0.248275862068966 TRUE NA +ENSG00000214655.10 . BCM GRCh38.p13 chr10 73791862 73791862 + C C T Silent SNP ENST00000605216.5 exon10 c.C1323T p.R441R exonic ENSG00000214655.10 . synonymous SNV ENSG00000214655.10:ENST00000605216.5:exon10:c.C1323T:p.R441R 10q22.2 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSWIM8 34 0 30 7 0.189189189189189 TRUE TRUE +ENSG00000107816.17 . BCM GRCh38.p13 chr10 101003650 101003650 + G G T Silent SNP ENST00000370220.1 exon2 c.G552T p.G184G exonic ENSG00000107816.17 . synonymous SNV ENSG00000107816.17:ENST00000370220.1:exon2:c.G552T:p.G184G 10q24.31 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LZTS2 56 0 39 9 0.1875 TRUE TRUE +ENSG00000149781.12 . BCM GRCh38.p13 chr11 64210744 64210744 + G G T Silent SNP ENST00000279227.9 exon3 c.G294T p.R98R exonic ENSG00000149781.12 . synonymous SNV ENSG00000149781.12:ENST00000279227.9:exon3:c.G294T:p.R98R 11q13.1 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FERMT3 333 1 261 68 0.206686930091185 TRUE TRUE +ENSG00000132361.17 . BCM GRCh38.p13 chr17 2692798 2692798 + G G A Silent SNP ENST00000570628.6 exon20 c.C3177T p.P1059P exonic ENSG00000132361.17 . synonymous SNV ENSG00000132361.17:ENST00000570628.6:exon20:c.C3177T:p.P1059P 17p13.3 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLUH 55 0 37 6 0.13953488372093 TRUE TRUE +ENSG00000141452.10 . BCM GRCh38.p13 chr18 23527821 23527821 + C C T Silent SNP ENST00000269221.8 exon14 c.C1216T p.L406L exonic ENSG00000141452.10 . synonymous SNV ENSG00000141452.10:ENST00000269221.8:exon14:c.C1216T:p.L406L 18q11.2 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RMC1 244 0 213 45 0.174418604651163 TRUE TRUE +ENSG00000124831.19 . BCM GRCh38.p13 chr2 237772097 237772097 + G G A IGR SNP NA NA NA NA intergenic ENSG00000124831.19;ENSG00000177483.11 dist=7136;dist=26648 . . 2q37.3 C3N-00733 . . . . . . . . . 3.14 T T . . . D . T D 0.259 T T T 0.068 0.328 0.520 . . . T T T T 2.076 19.830 0.522 D N -0.372 1.446 -0.148 1.915 0.994 0.732 0.744 0.710 0.734 . 5.350 4.460 0.997 1.176 0.676 0.710 0.909 0.913 982 . . . . LRRFIP1 133 0 125 23 0.155405405405405 NA TRUE +ENSG00000254872.3 . BCM GRCh38.p13 chr11 1084384 1084384 + A A G IGR SNP NA NA NA NA intergenic ENSG00000254872.3;ENSG00000198788.8 dist=28635;dist=18071 . . 11p15.5 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02688 94 0 82 18 0.18 TRUE NA +ENSG00000254838.5 . BCM GRCh38.p13 chr11 6716927 6716927 + - NA A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254838.5 . . . 11p15.4 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GVINP1 NA NA NA NA NA NA NA +ENSG00000137764.20 . BCM GRCh38.p13 chr15 67823834 67823834 + G G T IGR SNP NA NA NA NA intergenic ENSG00000137764.20;ENSG00000188779.12 dist=16720;dist=1675 . . 15q23 C3N-00733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP2K5 181 0 141 29 0.170588235294118 TRUE NA +ENSG00000229005.2 . BCM GRCh38.p13 chr20 44390679 44390679 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000229005.2;ENSG00000233376.1 . . . 20q13.12 C3N-00733 . . . . . . . . . 6.8 . D . . . D . . . 0.502 . . . . . 0.898 . . T D D . T 3.443 24.500 0.903 D D . . . . 1.000 0.032 0.060 0.056 0.059 . 4.010 3.050 5.048 1.176 0.676 1.000 0.960 0.997 415 . . . . HNF4A-AS1 100 0 83 20 0.194174757281553 TRUE TRUE +ENSG00000198223.16 . BCM GRCh38.p13 chrX 1309624 1309624 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000198223.16 ENST00000381524.8:c.*145C>T . . Xp22.33 C3N-00733 4.191e-05 0 0 0 0 1.526e-05 0 0.0002 rs750257726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100817396;OCCURENCE=1(stomach) CSF2RA 155 0 138 27 0.163636363636364 TRUE NA +ENSG00000177000.13 . BCM GRCh38.p13 chr1 11801334 11801334 + G G C Missense_Mutation SNP ENST00000376590.9 exon3 c.C302G p.P101R exonic ENSG00000177000.13 . nonsynonymous SNV ENSG00000177000.13:ENST00000376590.9:exon3:c.C302G:p.P101R 1p36.22 C3N-00831 . . . . . . . . . 15.20 T T B B D D M D D 0.932 D D D 0.900 0.724 0.984 0.959 T D D D D D 3.592 25.000 0.997 D D 0.555 5.494 0.649 6.891 1.000 0.737 0.725 0.733 0.636 . 5.660 5.660 9.202 1.154 0.650 1.000 1.000 0.998 895 . . . . MTHFR 380 0 319 121 0.275 TRUE TRUE +ENSG00000159377.11 . BCM GRCh38.p13 chr1 151400144 151400144 + T T A Missense_Mutation SNP ENST00000290541.7 exon2 c.T304A p.Y102N exonic ENSG00000159377.11 . nonsynonymous SNV ENSG00000159377.11:ENST00000290541.7:exon2:c.T304A:p.Y102N 1q21.3 C3N-00831 . . . . . . . . . 13.20 D D D D D D M T D 0.853 T T D 0.397 0.576 0.489 1.681 T T T T D D 4.459 32 0.991 D D 0.714 7.323 0.654 6.971 1.000 0.543 0.522 0.686 0.562 . 5.340 5.340 5.840 1.138 0.665 1.000 0.997 0.958 185 Proteasome_beta-type_subunit,_conserved_site . . . PSMB4 293 0 223 70 0.238907849829352 TRUE TRUE +ENSG00000143631.11 . BCM GRCh38.p13 chr1 152311748 152311748 + G G C Missense_Mutation SNP ENST00000368799.2 exon3 c.C3138G p.H1046Q exonic ENSG00000143631.11 . nonsynonymous SNV ENSG00000143631.11:ENST00000368799.2:exon3:c.C3138G:p.H1046Q 1q21.3 C3N-00831 . . . . . . . . . 3.18 T . D D . N M T N 0.159 T T T 0.064 0.530 0.222 . T T T T T T 0.450 5.977 0.550 N N -0.412 1.357 -0.639 0.988 0.000 0.554 0.574 0.574 0.621 . 3.630 2.700 -1.175 -0.494 0.332 0.000 0.000 0.009 591 . . . . FLG 683 0 518 165 0.241581259150805 NA TRUE +ENSG00000179915.23 . BCM GRCh38.p13 chr2 50531251 50531251 + G G A Missense_Mutation SNP ENST00000406316.6 exon11 c.C2323T p.R775C exonic ENSG00000179915.23 . nonsynonymous SNV ENSG00000179915.23:ENST00000406316.6:exon11:c.C2323T:p.R775C 2p16.3 C3N-00831 . . . . . . . . rs201387857 19.20 D D D D D D M T D 0.866 D D D 0.850 . 0.445 1.040 D D D D D D 4.526 32 0.999 D D 0.958 12.660 0.924 14.812 1.000 0.638 0.574 0.653 0.613 . 5.760 5.760 8.015 1.176 0.676 1.000 0.982 0.991 864 Laminin_G_domain . . ID=COSV100456926;OCCURENCE=1(lung) NRXN1 196 0 163 49 0.231132075471698 TRUE NA +ENSG00000155052.14 . BCM GRCh38.p13 chr2 124563286 124563286 + C C A Nonsense_Mutation SNP ENST00000431078.1 exon11 c.C1716A p.C572X exonic ENSG00000155052.14 . stopgain ENSG00000155052.14:ENST00000431078.1:exon11:c.C1716A:p.C572X 2q14.3 C3N-00831 . . . . . . . . . 5.6 . . . . D A . . . 0.490 . . . . . . . . . D D . . 6.713 36 0.995 D N 0.651 6.483 0.515 5.295 0.000 0.487 0.574 0.574 0.564 . 6.070 3.910 0.956 0.138 0.599 0.996 0.954 0.996 968 EGF-like_domain . . . CNTNAP5 175 0 113 15 0.1171875 TRUE TRUE +ENSG00000144229.12 . BCM GRCh38.p13 chr2 137231136 137231136 + G G A Missense_Mutation SNP ENST00000409968.6 exon8 c.G1816A p.E606K exonic ENSG00000144229.12 . nonsynonymous SNV ENSG00000144229.12:ENST00000409968.6:exon8:c.G1816A:p.E606K 2q22.1 C3N-00831 1.672e-05 0 0 0.0001 0 0 0 6.157e-05 rs746487130 0.19 T T B B N N . T N 0.434 T T T 0.065 0.523 0.521 0.536 T T T T T T 2.094 19.970 0.968 N N -0.523 1.131 -0.474 1.244 0.000 0.554 0.574 0.618 0.564 . 5.890 1.840 1.138 0.198 -0.153 0.793 0.947 0.859 865 . . . . THSD7B 227 0 198 21 0.0958904109589041 TRUE NA +ENSG00000115540.15 . BCM GRCh38.p13 chr2 197516099 197516099 + G G A Missense_Mutation SNP ENST00000323303.9 exon1 c.G13A p.E5K exonic ENSG00000115540.15 . nonsynonymous SNV ENSG00000115540.15:ENST00000323303.9:exon1:c.G13A:p.E5K 2q33.1 C3N-00831 . . . . . . . . . 7.18 T T B B D D L . N 0.609 T T D 0.102 0.345 0.168 1.085 . T T T D D 3.131 23.700 0.999 D D 0.127 2.993 0.266 3.523 1.000 0.442 0.522 0.522 0.562 . 4.600 4.600 6.264 1.101 0.590 1.000 1.000 0.999 482 . . . . MOB4 214 0 94 24 0.203389830508475 TRUE TRUE +ENSG00000176946.12 . BCM GRCh38.p13 chr2 241601967 241601967 + C C T Missense_Mutation SNP ENST00000407315.6 exon5 c.G1543A p.G515R exonic ENSG00000176946.12 . nonsynonymous SNV ENSG00000176946.12:ENST00000407315.6:exon5:c.G1543A:p.G515R 2q37.3 C3N-00831 . . . . . . . . . 17.20 D D D D N D M D D 0.694 D D D 0.811 0.733 0.950 1.465 T T D D D D 3.984 26.900 0.999 D D 0.651 6.489 0.656 6.997 1.000 0.707 0.702 0.725 0.714 . 5.090 5.090 6.695 1.026 0.594 1.000 0.987 0.963 970 Domain_of_unknown_function_DUF1794 . . . THAP4 139 0 136 13 0.087248322147651 TRUE TRUE +ENSG00000109436.8 . BCM GRCh38.p13 chr4 140670811 140670811 + A A T Missense_Mutation SNP ENST00000442267.3 exon7 c.T1175A p.V392E exonic ENSG00000109436.8 . nonsynonymous SNV ENSG00000109436.8:ENST00000442267.3:exon7:c.T1175A:p.V392E 4q31.21 C3N-00831 . . . . . . . . . 15.20 D D P D D D M T D 0.935 T T D 0.732 0.563 0.495 1.793 D T D D D D 4.152 28.200 0.990 D D 0.867 10.230 0.831 11.104 1.000 0.707 0.709 0.602 0.714 . 5.450 5.450 9.294 1.312 0.756 1.000 1.000 0.996 912 GRAM_domain;TCB1D9/TCB1D9B,_PH-GRAM_domain_2 . . . TBC1D9 282 0 193 67 0.257692307692308 TRUE TRUE +ENSG00000184347.15 . BCM GRCh38.p13 chr5 168806517 168806517 + A A T Missense_Mutation SNP ENST00000519560.6 exon9 c.T864A p.N288K exonic ENSG00000184347.15 . nonsynonymous SNV ENSG00000184347.15:ENST00000519560.6:exon9:c.T864A:p.N288K 5q34 C3N-00831 . . . . . . . . . 19.20 D D D D D D M D D 0.971 D D D 0.737 0.541 0.935 0.874 T D D D D D 2.537 22.500 0.996 D D 0.026 2.606 -0.073 2.125 0.482 0.554 0.563 0.574 0.621 . 5.850 -2.260 0.761 0.259 -0.208 1.000 0.984 0.983 937 Leucine-rich_repeat_N-terminal_domain . . . SLIT3 270 0 265 54 0.169278996865204 TRUE TRUE +ENSG00000184845.4 . BCM GRCh38.p13 chr5 175442484 175442484 + G G C Missense_Mutation SNP ENST00000393752.3 exon2 c.C616G p.P206A exonic ENSG00000184845.4 . nonsynonymous SNV ENSG00000184845.4:ENST00000393752.3:exon2:c.C616G:p.P206A 5q35.2 C3N-00831 . . . . . . . . . 19.20 D D D D D D H T D 0.840 D D D 0.784 0.872 0.845 1.500 D D D D D D 3.806 25.900 0.995 D D 1.126 18.698 1.031 20.905 1.000 0.487 0.563 0.563 0.564 . 5.540 5.540 9.864 1.176 0.676 1.000 0.991 0.987 906 GPCR,_rhodopsin-like,_7TM . . . DRD1 257 0 251 52 0.171617161716172 TRUE TRUE +ENSG00000146192.15 . BCM GRCh38.p13 chr6 37008929 37008929 + C C A Missense_Mutation SNP ENST00000274963.13 exon2 c.C164A p.T55K exonic ENSG00000146192.15 . nonsynonymous SNV ENSG00000146192.15:ENST00000274963.13:exon2:c.C164A:p.T55K 6p21.2 C3N-00831 . . . . . . . . . 0.20 T T B B N N N T N 0.095 T T T 0.030 0.299 0.174 0.131 T T T T T T -0.551 0.093 0.550 N N -1.598 0.055 -1.572 0.083 1.000 0.543 0.686 0.547 0.542 . 4.330 0.229 -0.837 -2.236 -1.915 0.000 0.000 0.000 859 . . . . FGD2 177 0 125 30 0.193548387096774 TRUE TRUE +ENSG00000244694.7 . BCM GRCh38.p13 chr6 47878770 47878770 + C C T Missense_Mutation SNP ENST00000339488.8 exon3 c.G2074A p.V692I exonic ENSG00000244694.7 . nonsynonymous SNV ENSG00000244694.7:ENST00000339488.8:exon3:c.G2074A:p.V692I 6p12.3 C3N-00831 1.654e-05 0 0 0 0 3.005e-05 0 0 rs528776718 11.20 T D P P D D M D N 0.242 T T D 0.465 0.558 0.787 0.440 T T D D T D 2.379 22.000 0.981 D D 0.359 4.101 0.460 4.814 1.000 0.638 0.574 0.574 0.668 . 5.910 5.910 4.759 1.026 0.599 1.000 1.000 0.998 660 . . . ID=COSV59778280;OCCURENCE=1(large_intestine),5(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(skin),1(lung),1(endometrium) PTCHD4 331 1 234 77 0.247588424437299 TRUE TRUE +ENSG00000071242.12 . BCM GRCh38.p13 chr6 166413897 166413897 + T T A Missense_Mutation SNP ENST00000265678.9 exon20 c.A1973T p.H658L exonic ENSG00000071242.12 . nonsynonymous SNV ENSG00000071242.12:ENST00000265678.9:exon20:c.A1973T:p.H658L 6q27 C3N-00831 . . . . . . . . . 6.20 D T B B N D N T D 0.593 T T T 0.231 0.396 0.766 0.652 T T T T D T 2.652 22.700 0.965 D D -0.302 1.608 -0.187 1.818 1.000 0.706 0.634 0.710 0.714 . 3.750 3.750 7.460 0.167 -0.227 1.000 0.976 0.498 993 Protein_kinase_domain . . . RPS6KA2 204 1 116 38 0.246753246753247 TRUE TRUE +ENSG00000106009.16 . BCM GRCh38.p13 chr7 2541340 2541340 + G G A Nonsense_Mutation SNP ENST00000340611.9 exon9 c.C1279T p.R427X exonic ENSG00000106009.16 . stopgain ENSG00000106009.16:ENST00000340611.9:exon9:c.C1279T:p.R427X 7p22.3 C3N-00831 9.53e-06 0 0 0.0001 0 0 0 0 rs761081587 5.6 . . . . D A . . . 0.081 . . . . . . . . . D D . . 8.000 40 0.998 D N 0.476 4.856 0.283 3.620 0.019 0.707 0.702 0.644 0.714 . 5.180 3.200 1.086 1.162 0.672 0.955 0.650 0.843 946 . . . . BRAT1 75 1 97 13 0.118181818181818 TRUE NA +ENSG00000122591.12 . BCM GRCh38.p13 chr7 22945684 22945684 + G G A Missense_Mutation SNP ENST00000432176.7 exon11 c.C1471T p.L491F exonic ENSG00000122591.12 . nonsynonymous SNV ENSG00000122591.12:ENST00000432176.7:exon11:c.C1471T:p.L491F 7p15.3 C3N-00831 . . . . . . . . . 6.20 T T B B D D L D N 0.353 T D D 0.304 0.205 0.345 0.150 T T T T T T 2.909 23.200 0.993 D N 0.127 2.992 0.311 3.780 1.000 0.706 0.725 0.710 0.714 . 6.160 6.160 2.207 1.176 0.676 1.000 1.000 1.000 666 . . . . FAM126A 192 0 197 50 0.202429149797571 TRUE TRUE +ENSG00000132549.18 . BCM GRCh38.p13 chr8 99502907 99502907 + A A C Missense_Mutation SNP ENST00000358544.6 exon27 c.A4114C p.K1372Q exonic ENSG00000132549.18 . nonsynonymous SNV ENSG00000132549.18:ENST00000358544.6:exon27:c.A4114C:p.K1372Q 8q22.2 C3N-00831 . . . . . . . . . 13.20 D D D D D D L T D 0.748 T T D 0.351 0.453 0.751 0.585 T D T T D D 3.918 26.500 0.995 D D 0.726 7.496 0.727 8.285 1.000 0.651 0.709 0.618 0.668 . 5.410 5.410 8.993 1.207 0.691 1.000 1.000 1.000 513 . . . . VPS13B 273 0 194 56 0.224 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112335464 112335464 + C C T Missense_Mutation SNP ENST00000297405.10 exon45 c.G7030A p.D2344N exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon45:c.G7030A:p.D2344N 8q23.3 C3N-00831 . . . . . . . . . 11.20 D D D D D D N T D 0.557 T T T 0.218 0.466 0.478 0.657 T T T T D D 4.033 27.200 0.999 D D 0.585 5.771 0.603 6.257 1.000 0.487 0.574 0.574 0.564 . 4.830 4.830 4.981 0.929 0.549 1.000 0.997 0.997 867 CUB_domain . . ID=COSV52163902;OCCURENCE=1(large_intestine) CSMD3 452 1 302 89 0.227621483375959 TRUE TRUE +ENSG00000173848.19 . BCM GRCh38.p13 chr10 5412745 5412745 + G G A Missense_Mutation SNP ENST00000355029.9 exon1 c.G53A p.R18H exonic ENSG00000173848.19 . nonsynonymous SNV ENSG00000173848.19:ENST00000355029.9:exon1:c.G53A:p.R18H 10p15.1 C3N-00831 . . . . . . . . . 9.19 D T D D . D M T N 0.202 T T D 0.090 0.301 0.491 0.604 D T T T D T 4.363 31 0.999 D N 0.337 3.974 0.277 3.583 1.000 0.442 0.484 0.522 0.250 . 3.670 3.670 2.534 0.981 0.495 0.995 0.835 0.968 911 . . . . NET1 97 0 31 4 0.114285714285714 TRUE NA +ENSG00000188613.7 . BCM GRCh38.p13 chr10 119030675 119030675 + C C A Missense_Mutation SNP ENST00000425699.3 exon1 c.C874A p.R292S exonic ENSG00000188613.7 . nonsynonymous SNV ENSG00000188613.7:ENST00000425699.3:exon1:c.C874A:p.R292S 10q26.11 C3N-00831 . . . . . . . . . 6.19 D D P B . N L T N 0.331 T T D 0.088 0.415 0.472 . D T T T D T 3.382 24.400 0.977 D N 0.369 4.159 0.440 4.655 1.000 0.652 0.219 0.641 0.555 . 5.680 5.680 1.380 1.022 0.591 1.000 0.998 0.791 544 . . . . NANOS1 49 0 22 3 0.12 TRUE TRUE +ENSG00000167825.3 . BCM GRCh38.p13 chr11 55936302 55936302 + A A C Missense_Mutation SNP ENST00000301532.3 exon1 c.T99G p.F33L exonic ENSG00000167825.3 . nonsynonymous SNV ENSG00000167825.3:ENST00000301532.3:exon1:c.T99G:p.F33L 11q12.1 C3N-00831 . . . . . . . . . 7.20 D D D D D N L T D 0.214 T T T 0.084 0.412 0.247 0.100 T T T T D T 1.572 16.190 0.997 N N -0.114 2.131 -0.289 1.587 0.000 0.487 0.574 0.574 0.564 . 5.050 2.750 -0.986 0.156 -0.093 0.000 0.003 0.006 163 . . . . OR5I1 132 0 104 28 0.212121212121212 TRUE TRUE +ENSG00000110031.12 . BCM GRCh38.p13 chr11 58564197 58564197 + T T G Missense_Mutation SNP ENST00000395074.6 exon3 c.A176C p.Q59P exonic ENSG00000110031.12 . nonsynonymous SNV ENSG00000110031.12:ENST00000395074.6:exon3:c.A176C:p.Q59P 11q12.1 C3N-00831 . . . . . . . . . 4.20 T T B B N D M T N 0.595 T T T 0.106 0.158 0.724 0.174 T T T T D T 2.220 21.000 0.990 D N -0.068 2.279 0.003 2.370 1.000 0.722 0.699 0.653 0.613 . 4.800 4.800 3.512 1.138 0.665 1.000 0.781 0.442 617 . . . . LPXN 157 0 104 28 0.212121212121212 TRUE TRUE +ENSG00000154143.3 . BCM GRCh38.p13 chr11 124617459 124617459 + C C A Missense_Mutation SNP ENST00000284288.3 exon3 c.C510A p.D170E exonic ENSG00000154143.3 . nonsynonymous SNV ENSG00000154143.3:ENST00000284288.3:exon3:c.C510A:p.D170E 11q24.2 C3N-00831 . . . . . . . . . 1.20 T T B B N N L T N 0.176 T T T 0.086 0.229 0.081 0.213 T T T T T T 0.753 8.941 0.634 D N -0.713 0.791 -0.592 1.058 0.017 0.487 0.590 0.574 0.530 . 4.990 3.050 0.550 0.129 -0.190 0.997 0.975 0.684 636 . . . . PANX3 294 0 243 34 0.122743682310469 TRUE TRUE +ENSG00000111319.13 . BCM GRCh38.p13 chr12 6363453 6363453 + C C T Missense_Mutation SNP ENST00000228916.7 exon3 c.G674A p.G225D exonic ENSG00000111319.13 . nonsynonymous SNV ENSG00000111319.13:ENST00000228916.7:exon3:c.G674A:p.G225D 12p13.31 C3N-00831 . . . . . . . . . 18.20 D D D D D D M T D 0.884 D D D 0.713 0.771 0.934 0.640 T D D D D D 4.054 27.400 0.998 D D 0.661 6.604 0.596 6.171 1.000 0.726 0.607 0.594 0.562 . 5.460 5.460 3.365 0.952 0.511 1.000 0.999 0.913 917 . . . . SCNN1A 67 0 58 10 0.147058823529412 TRUE TRUE +ENSG00000070961.15 . BCM GRCh38.p13 chr12 89603880 89603880 + T T G Missense_Mutation SNP ENST00000428670.7 exon17 c.A2680C p.M894L exonic ENSG00000070961.15 . nonsynonymous SNV ENSG00000070961.15:ENST00000428670.7:exon17:c.A2680C:p.M894L 12q21.33 C3N-00831 . . . . . . . . . 18.20 D D P P D D H D D 0.658 D D D 0.954 0.736 0.995 2.257 D D D D D D 3.914 26.400 0.983 D D 0.812 9.017 0.797 10.039 1.000 0.707 0.725 0.725 0.636 . 5.760 5.760 8.017 1.138 0.665 1.000 1.000 0.998 832 Cation-transporting_P-type_ATPase,_C-terminal . . . ATP2B1 234 0 151 60 0.28436018957346 TRUE TRUE +ENSG00000126217.21 . BCM GRCh38.p13 chr13 113096443 113096443 + G G A Missense_Mutation SNP ENST00000375608.7 exon29 c.G3238A p.D1080N exonic ENSG00000126217.21 . nonsynonymous SNV ENSG00000126217.21:ENST00000375608.7:exon29:c.G3238A:p.D1080N 13q34 C3N-00831 . . . . . . . . . 10.20 D D B B D D M T N 0.398 T T D 0.267 . 0.709 0.400 T T T T D D 3.104 23.600 0.996 D D 0.281 3.685 0.211 3.238 1.000 0.718 0.588 0.571 0.613 . 5.140 5.140 6.992 0.204 -0.117 1.000 0.734 0.101 988 SH3_domain;DBS,_SH3_domain . . . MCF2L 153 0 73 31 0.298076923076923 TRUE NA +ENSG00000185989.11 . BCM GRCh38.p13 chr13 113996682 113996682 + C C T Missense_Mutation SNP ENST00000334062.8 exon21 c.G1990A p.E664K exonic ENSG00000185989.11 . nonsynonymous SNV ENSG00000185989.11:ENST00000334062.8:exon21:c.G1990A:p.E664K 13q34 C3N-00831 . . . . . . . . . 17.19 D D D D D D H T D 0.941 D D D 0.842 0.796 0.909 1.270 T D D D D . 3.940 26.600 0.999 D D 0.919 11.553 0.839 11.390 1.000 0.707 0.702 0.723 0.714 . 5.370 5.370 6.957 0.980 0.599 1.000 1.000 0.992 970 Pleckstrin_homology_domain;RASA3,_PH_domain . . . RASA3 249 0 238 26 0.0984848484848485 TRUE NA +ENSG00000137812.20 . BCM GRCh38.p13 chr15 40622698 40622698 + C C - Nonsense_Mutation SNP ENST00000346991.9 exon11 c.2512delC p.I839* exonic ENSG00000137812.20 . stopgain ENSG00000137812.20:ENST00000346991.9:exon11:c.2512delC:p.I839* 15q15.1 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KNL1 36 0 25 11 0.305555555555556 TRUE TRUE +ENSG00000172840.7 . BCM GRCh38.p13 chr16 66885209 66885209 + C C A Missense_Mutation SNP ENST00000311765.4 exon2 c.C925A p.H309N exonic ENSG00000172840.7 . nonsynonymous SNV ENSG00000172840.7:ENST00000311765.4:exon2:c.C925A:p.H309N 16q22.1 C3N-00831 . . . . . . . . . 17.20 D D D D D D H T D 0.892 D D D 0.682 0.854 0.958 0.945 T T D D D D 3.656 25.200 0.992 D D 1.087 16.966 1.008 19.326 1.000 0.719 0.654 0.723 0.636 . 5.920 5.920 7.844 0.947 0.599 1.000 0.999 0.998 87 PPM-type_phosphatase_domain . . ID=COSV100305943;OCCURENCE=1(skin) PDP2 179 0 170 48 0.220183486238532 TRUE TRUE +ENSG00000178971.16 . BCM GRCh38.p13 chr17 8234805 8234805 + C C T Missense_Mutation SNP ENST00000651323.1 exon9 c.G1561A p.V521I exonic ENSG00000178971.16 . nonsynonymous SNV ENSG00000178971.16:ENST00000651323.1:exon9:c.G1561A:p.V521I 17p13.1 C3N-00831 . . . . . . . . . 1.20 T T B B N N N D N 0.096 T T T 0.167 0.170 0.132 0.094 T T T T T T -1.418 0.001 0.766 N N -1.592 0.057 -1.589 0.078 0.988 0.707 0.702 0.702 0.714 . 5.200 -5.190 -1.392 -1.425 -0.943 0.000 0.002 0.024 456 . . . . CTC1 85 0 56 13 0.188405797101449 TRUE TRUE +ENSG00000134775.15 . BCM GRCh38.p13 chr18 36755261 36755261 + C C T Missense_Mutation SNP ENST00000359247.8 exon21 c.C3799T p.R1267W exonic ENSG00000134775.15 . nonsynonymous SNV ENSG00000134775.15:ENST00000359247.8:exon21:c.C3799T:p.R1267W 18q12.2 C3N-00831 8.797e-06 0 0 0 0 0 0 6.69e-05 rs770601848 10.20 T D P B D D L T D 0.858 T T D 0.239 0.448 0.155 0.688 D T T T D D 4.100 27.800 0.999 D D 0.200 3.302 0.312 3.789 1.000 0.706 0.710 0.710 0.586 . 6.170 5.290 2.593 1.026 0.599 1.000 1.000 0.999 854 Formin,_FH2_domain . . ID=COSV57167752;OCCURENCE=2(large_intestine) FHOD3 225 0 157 43 0.215 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8939148 8939148 + G G A Missense_Mutation SNP ENST00000397910.8 exon5 c.C31807T p.P10603S exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon5:c.C31807T:p.P10603S 19p13.2 C3N-00831 . . . . . . . . . 1.15 T T . . . N . T D 0.036 T T T 0.029 0.219 0.014 . T . T T T T -0.325 0.276 0.321 N N -0.832 0.609 -1.065 0.413 0.001 0.554 0.574 0.618 0.564 . 2.960 -4.220 -1.238 -1.554 -0.215 0.000 0.001 0.030 923 . . . . MUC16 179 0 136 33 0.195266272189349 TRUE TRUE +ENSG00000105750.15 . BCM GRCh38.p13 chr19 20949527 20949527 + G G C Missense_Mutation SNP ENST00000328178.13 exon4 c.G1013C p.G338A exonic ENSG00000105750.15 . nonsynonymous SNV ENSG00000105750.15:ENST00000328178.13:exon4:c.G1013C:p.G338A 19p12 C3N-00831 . . . . . . . . . 7.18 D D D D . D L T D 0.288 T T T 0.062 0.502 0.326 0.008 T T T T D T 2.473 22.300 0.989 N . -0.144 2.040 -0.396 1.380 0.000 0.707 0.634 0.725 0.492 . 1.350 0.209 1.146 -0.130 0.560 0.063 0.028 0.518 988 Zinc_finger_C2H2-type . . . ZNF85 115 0 92 25 0.213675213675214 NA TRUE +ENSG00000167759.13 . BCM GRCh38.p13 chr19 51056621 51056621 + G G T Missense_Mutation SNP ENST00000595793.6 exon5 c.C800A p.T267N exonic ENSG00000167759.13 . nonsynonymous SNV ENSG00000167759.13:ENST00000595793.6:exon5:c.C800A:p.T267N 19q13.41 C3N-00831 . . . . . . . . rs752161872 4.20 D D P B N N N D N 0.328 T D T 0.162 0.374 0.478 0.168 T T T T T T 1.388 15.000 0.895 N N -0.525 1.127 -0.591 1.059 0.006 0.615 0.610 0.659 0.564 . 4.340 3.270 2.167 0.226 0.676 0.160 0.001 0.004 952 . . . ID=COSV99335211;OCCURENCE=1(endometrium) KLK13 153 1 108 44 0.289473684210526 TRUE TRUE +ENSG00000228567.3 . BCM GRCh38.p13 chr19 53267421 53267421 + A A G Missense_Mutation SNP ENST00000311170.5 exon1 c.T245C p.L82P exonic ENSG00000228567.3 . nonsynonymous SNV ENSG00000228567.3:ENST00000311170.5:exon1:c.T245C:p.L82P 19q13.42 C3N-00831 . . . . . . . . . 5.15 D D . . N N . T D 0.666 T T T 0.229 0.641 0.269 1.204 T . D T D . 2.844 23.100 0.996 N N 0.127 2.995 -0.162 1.880 0.000 0.487 0.574 0.547 0.564 . 2.260 2.260 4.981 0.861 0.692 0.819 0.004 0.005 994 . . . . VN1R4 292 0 161 60 0.271493212669683 NA TRUE +ENSG00000189186.10 . BCM GRCh38.p13 chrX 27747205 27747205 + C C T Missense_Mutation SNP ENST00000451261.6 exon5 c.C310T p.P104S exonic ENSG00000189186.10 . nonsynonymous SNV ENSG00000189186.10:ENST00000451261.6:exon5:c.C310T:p.P104S Xp21.3 C3N-00831 6.915e-05 0 0 0 0 0.0001 0 0 rs765751981 0.11 . T . . . N L T . 0.104 . . T . . 0.043 0.302 T T T T . T -1.373 0.001 0.438 N . . . . . 0.956 . . . . . 3.020 -6.030 -2.025 -0.495 -1.848 0.000 0.001 0.000 843 . . . . DCAF8L2 138 0 123 8 0.0610687022900763 TRUE NA +ENSG00000236424.7 . BCM GRCh38.p13 chrY 9529079 9529079 + T T A Missense_Mutation SNP ENST00000428845.6 exon2 c.T547A p.Y183N exonic ENSG00000236424.7 . nonsynonymous SNV ENSG00000236424.7:ENST00000428845.6:exon2:c.T547A:p.Y183N Yp11.2 C3N-00831 . . . . . . . . . 5.12 D D . . . N . T D 0.464 T T D 0.134 0.599 0.250 . . . T T D . 2.180 20.700 0.935 N . . . . . 0.000 . . . . . . . 2.136 0.165 0.060 1.000 0.033 0.027 . . . . . TSPY10 70 0 79 13 0.141304347826087 NA TRUE +ENSG00000116786.13 . BCM GRCh38.p13 chr1 15727530 15727530 + G G A Silent SNP ENST00000375799.8 exon9 c.G1458A p.G486G exonic ENSG00000116786.13 . synonymous SNV ENSG00000116786.13:ENST00000375799.8:exon9:c.G1458A:p.G486G 1p36.21 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHM2 327 0 256 77 0.231231231231231 TRUE TRUE +ENSG00000273136.7 . BCM GRCh38.p13 chr1 120814994 120814994 + G G C Silent SNP ENST00000620612.5 exon12 c.G2043C p.L681L exonic ENSG00000273136.7 . synonymous SNV ENSG00000273136.7:ENST00000620612.5:exon12:c.G2043C:p.L681L 1p11.2 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NBPF26 68 0 24 27 0.529411764705882 NA TRUE +ENSG00000203697.12 . BCM GRCh38.p13 chr1 223544101 223544101 + G G A Silent SNP ENST00000366872.10 exon19 c.C1995T p.F665F exonic ENSG00000203697.12 . synonymous SNV ENSG00000203697.12:ENST00000366872.10:exon19:c.C1995T:p.F665F 1q41 C3N-00831 4.895e-05 0 0 0 0 0.0001 0 0 rs746377638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64814277;OCCURENCE=2(skin) CAPN8 300 0 182 53 0.225531914893617 TRUE TRUE +ENSG00000119862.13 . BCM GRCh38.p13 chr2 64456390 64456390 + T T G Silent SNP ENST00000238875.10 exon4 c.T300G p.S100S exonic ENSG00000119862.13 . synonymous SNV ENSG00000119862.13:ENST00000238875.10:exon4:c.T300G:p.S100S 2p14 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LGALSL 156 0 70 22 0.239130434782609 TRUE TRUE +ENSG00000108786.10 . BCM GRCh38.p13 chr17 42553000 42553000 + C C T Silent SNP ENST00000585807.5 exon1 c.C67T p.L23L exonic ENSG00000108786.10 . synonymous SNV ENSG00000108786.10:ENST00000585807.5:exon1:c.C67T:p.L23L 17q21.2 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HSD17B1 177 0 117 31 0.209459459459459 TRUE TRUE +ENSG00000173826.14 . BCM GRCh38.p13 chr17 63538571 63538571 + G G T Silent SNP ENST00000583023.1 exon8 c.G1863T p.L621L exonic ENSG00000173826.14 . synonymous SNV ENSG00000173826.14:ENST00000583023.1:exon8:c.G1863T:p.L621L 17q23.3 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH6 91 0 55 28 0.337349397590361 TRUE TRUE +ENSG00000083828.16 . BCM GRCh38.p13 chr19 57779400 57779400 + T T C Silent SNP ENST00000396154.7 exon3 c.T813C p.F271F exonic ENSG00000083828.16 . synonymous SNV ENSG00000083828.16:ENST00000396154.7:exon3:c.T813C:p.F271F 19q13.43 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF586 413 0 325 92 0.220623501199041 TRUE TRUE +ENSG00000159212.12 . BCM GRCh38.p13 chr21 34670087 34670087 + A A G Silent SNP ENST00000360731.7 exon1 c.A699G p.E233E exonic ENSG00000159212.12 . synonymous SNV ENSG00000159212.12:ENST00000360731.7:exon1:c.A699G:p.E233E 21q22.12 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLIC6 11 0 9 5 0.357142857142857 TRUE NA +ENSG00000143469.20 . BCM GRCh38.p13 chr1 210163534 210163534 + C C G IGR SNP NA NA NA NA intergenic ENSG00000143469.20;ENSG00000203706.8 dist=1208;dist=67922 . . 1q32.2 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYT14 231 0 179 56 0.238297872340426 TRUE NA +ENSG00000143469.20 . BCM GRCh38.p13 chr1 210163540 210163540 + C C A IGR SNP NA NA NA NA intergenic ENSG00000143469.20;ENSG00000203706.8 dist=1214;dist=67916 . . 1q32.2 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYT14 231 0 179 56 0.238297872340426 TRUE NA +ENSG00000186453.13 . BCM GRCh38.p13 chr2 24179216 24179216 + A A C Intron SNP NA NA NA NA intronic ENSG00000186453.13;ENSG00000276087.2 . . . 2p23.3 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM228A 28 0 30 9 0.230769230769231 TRUE TRUE +ENSG00000114126.17 . BCM GRCh38.p13 chr3 142000290 142000290 + C C A Intron SNP NA NA NA NA intronic ENSG00000114126.17 . . . 3q23 C3N-00831 . . . . . . . . . 1.11 . D . . . N . . . 0.096 T T T 0.019 . 0.043 . . . T T T T 0.221 3.360 0.959 N N -1.273 0.180 -1.471 0.119 0.981 0.615 0.634 0.567 0.613 . 0.803 -1.610 -0.625 -0.251 -0.339 0.000 0.221 0.065 396 . . . . TFDP2 122 0 92 28 0.233333333333333 TRUE TRUE +ENSG00000124256.15 . BCM GRCh38.p13 chr20 57607146 57607148 + TCT TCT - Intron DEL NA NA NA NA intronic ENSG00000124256.15 . . . 20q13.31 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBP1 272 0 192 50 0.206611570247934 TRUE NA +ENSG00000067842.17 . BCM GRCh38.p13 chrX 153574908 153574908 + G G A Intron SNP NA NA NA NA intronic ENSG00000067842.17 . . . Xq28 C3N-00831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP2B3 42 0 47 3 0.06 TRUE NA +ENSG00000185668.8 . BCM GRCh38.p13 chr1 38045412 38045414 + GTG GTG - In_Frame_Del DEL ENST00000373012.5 exon1 c.1330_1332del p.H444del exonic ENSG00000185668.8 . nonframeshift deletion ENSG00000185668.8:ENST00000373012.5:exon1:c.1330_1332del:p.H444del 1p34.3 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POU3F1 8 0 4 3 0.428571428571429 TRUE NA +ENSG00000033122.21 . BCM GRCh38.p13 chr1 70016493 70016493 + A A - Frame_Shift_Del DEL ENST00000651989.2 exon14 c.1279delA p.K427Nfs*34 exonic ENSG00000033122.21 . frameshift deletion ENSG00000033122.21:ENST00000651989.2:exon14:c.1279delA:p.K427Nfs*34 1p31.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC7 36 0 35 14 0.285714285714286 TRUE TRUE +ENSG00000203857.10 . BCM GRCh38.p13 chr1 119514080 119514080 + G G A Missense_Mutation SNP ENST00000369413.8 exon4 c.G557A p.R186Q exonic ENSG00000203857.10 . nonsynonymous SNV ENSG00000203857.10:ENST00000369413.8:exon4:c.G557A:p.R186Q 1p12 C3N-00834 1.649e-05 0 0 0 0 0 0 0.0001 rs773620546 19.20 D D D D D D H D D 0.962 D D D 0.945 . 0.946 0.222 T D D D D D 4.275 29.400 1.000 D D 0.838 9.573 0.669 7.209 0.957 0.487 0.574 0.547 0.613 . 3.700 3.700 9.259 1.076 0.373 1.000 0.439 0.700 632 3-beta_hydroxysteroid_dehydrogenase/isomerase . . ID=COSV52490221;OCCURENCE=1(skin),1(upper_aerodigestive_tract) HSD3B1 274 0 341 20 0.0554016620498615 TRUE TRUE +ENSG00000042781.14 . BCM GRCh38.p13 chr1 216207337 216207337 + C C G Missense_Mutation SNP ENST00000307340.8 exon16 c.G3252C p.W1084C exonic ENSG00000042781.14 . nonsynonymous SNV ENSG00000042781.14:ENST00000307340.8:exon16:c.G3252C:p.W1084C 1q41 C3N-00834 . . . . . . . . rs200289497 10.20 T D D P N D M D N 0.534 T D D 0.310 0.561 0.907 0.040 T T T T D D 2.955 23.300 0.986 D N 0.370 4.165 0.387 4.266 0.998 0.487 0.574 0.574 0.564 . 5.860 4.950 1.388 0.094 0.599 0.814 0.998 0.996 869 Fibronectin_type_III . . . USH2A 257 0 292 89 0.233595800524934 TRUE TRUE +ENSG00000115548.17 . BCM GRCh38.p13 chr2 86477978 86477978 + T T A Missense_Mutation SNP ENST00000312912.10 exon13 c.T2041A p.F681I exonic ENSG00000115548.17 . nonsynonymous SNV ENSG00000115548.17:ENST00000312912.10:exon13:c.T2041A:p.F681I 2p11.2 C3N-00834 . . . . . . . . . 20.20 D D D D D D M D D 0.835 D D D 0.919 0.704 0.914 0.642 D D D D D D 4.178 28.400 0.992 D D 0.874 10.397 0.846 11.612 1.000 0.707 0.725 0.725 0.714 . 5.840 5.840 8.017 1.138 0.665 1.000 1.000 0.998 481 . . . . KDM3A 147 0 155 33 0.175531914893617 TRUE TRUE +ENSG00000168702.18 . BCM GRCh38.p13 chr2 140335779 140335779 + G G C Nonsense_Mutation SNP ENST00000389484.8 exon78 c.C11952G p.Y3984X exonic ENSG00000168702.18 . stopgain ENSG00000168702.18:ENST00000389484.8:exon78:c.C11952G:p.Y3984X 2q22.1 C3N-00834 . . . . . . . . . 6.7 . . . . D A . . . 0.949 . . . . . . . . . D D D . 8.036 40 0.980 D N 0.374 4.188 0.159 2.990 0.000 0.500 0.574 0.574 0.504 . 5.280 -1.460 0.210 -0.934 0.672 0.970 0.991 0.998 916 . . . . LRP1B 290 1 406 96 0.191235059760956 TRUE TRUE +ENSG00000162980.17 . BCM GRCh38.p13 chr2 151806956 151806956 + C C G Missense_Mutation SNP ENST00000295087.13 exon5 c.G356C p.G119A exonic ENSG00000162980.17 . nonsynonymous SNV ENSG00000162980.17:ENST00000295087.13:exon5:c.G356C:p.G119A 2q23.3 C3N-00834 . . . . . . . . . 11.20 T T B B D D N D N 0.714 T T D 0.335 0.359 0.849 0.745 D T D D D D 2.064 19.740 0.690 D D -0.232 1.788 0.077 2.644 1.000 0.706 0.725 0.710 0.714 . 5.600 5.600 6.081 1.026 0.599 1.000 0.996 0.998 811 Small_GTP-binding_protein_domain . . ID=COSV99706829;OCCURENCE=1(lung) ARL5A 63 0 88 18 0.169811320754717 TRUE TRUE +ENSG00000115806.13 . BCM GRCh38.p13 chr2 170961700 170961706 + CCAGTCC CCAGTCC - Frame_Shift_Del DEL ENST00000234160.5 exon8 c.861_867del p.Q288Sfs*7 exonic ENSG00000115806.13 . frameshift deletion ENSG00000115806.13:ENST00000234160.5:exon8:c.861_867del:p.Q288Sfs*7 2q31.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GORASP2 235 0 221 68 0.235294117647059 TRUE TRUE +ENSG00000144406.19 . BCM GRCh38.p13 chr2 209786109 209786109 + G G - Frame_Shift_Del DEL ENST00000439458.5 exon5 c.644delG p.W215Cfs*19 exonic ENSG00000144406.19 . frameshift deletion ENSG00000144406.19:ENST00000439458.5:exon5:c.644delG:p.W215Cfs*19 2q34 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC80 156 0 125 50 0.285714285714286 TRUE TRUE +ENSG00000156983.16 . BCM GRCh38.p13 chr3 9744310 9744310 + G G A Missense_Mutation SNP ENST00000457855.1 exon8 c.G2704A p.A902T exonic ENSG00000156983.16 . nonsynonymous SNV ENSG00000156983.16:ENST00000457855.1:exon8:c.G2704A:p.A902T 3p25.3 C3N-00834 . . . . . . . . . 6.20 T T P B D D L T N 0.471 T T T 0.174 0.198 0.439 0.440 D T T T T D 2.618 22.700 0.994 D D 0.203 3.317 0.355 4.056 1.000 0.672 0.702 0.702 0.636 . 5.850 5.850 4.494 1.176 0.676 1.000 1.000 1.000 740 . . . . BRPF1 53 0 57 3 0.05 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142018 10142044 + GCGGCCGCGGCCCGTGCTGCGCTCGGT GCGGCCGCGGCCCGTGCTGCGCTCGGT - In_Frame_Del DEL ENST00000256474.3 exon1 c.171_197del p.R58_V66del exonic ENSG00000134086.8 . nonframeshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.171_197del:p.R58_V66del 3p25.3 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 360 0 146 98 0.401639344262295 TRUE TRUE +ENSG00000132182.12 . BCM GRCh38.p13 chr3 13373780 13373780 + T T C Missense_Mutation SNP ENST00000254508.7 exon12 c.A1525G p.I509V exonic ENSG00000132182.12 . nonsynonymous SNV ENSG00000132182.12:ENST00000254508.7:exon12:c.A1525G:p.I509V 3p25.1 C3N-00834 . . . . . . . . rs200377773 1.20 T T B B N N L T N 0.145 T T T 0.037 . 0.254 0.139 T T T T T T 1.426 15.260 0.401 D N -0.488 1.200 -0.365 1.437 0.999 0.737 0.702 0.733 0.568 . 5.800 4.640 1.410 0.183 0.665 0.882 0.457 0.640 646 . . . . NUP210 223 0 103 56 0.352201257861635 TRUE NA +ENSG00000010327.10 . BCM GRCh38.p13 chr3 52511717 52511717 + G G A Missense_Mutation SNP ENST00000321725.10 exon26 c.G2855A p.R952Q exonic ENSG00000010327.10 . nonsynonymous SNV ENSG00000010327.10:ENST00000321725.10:exon26:c.G2855A:p.R952Q 3p21.1 C3N-00834 0.0010 0 0.0003 0 0.0035 0.0015 0 0.0003 rs142570156 4.20 D T D P N N L D N 0.325 T T D 0.180 . 0.766 0.666 T T T T T T 2.980 23.400 0.999 N N -0.026 2.418 -0.032 2.252 0.120 0.672 0.578 0.578 0.711 . 5.630 2.730 2.463 1.176 0.676 0.057 0.984 0.934 83 EGF-like_domain;EGF_domain . . . STAB1 74 0 90 6 0.0625 TRUE NA +ENSG00000153071.15 . BCM GRCh38.p13 chr5 39376757 39376757 + C C A Missense_Mutation SNP ENST00000320816.11 exon12 c.G2030T p.G677V exonic ENSG00000153071.15 . nonsynonymous SNV ENSG00000153071.15:ENST00000320816.11:exon12:c.G2030T:p.G677V 5p13.1 C3N-00834 . . . . . . . . . 12.20 D T D P N D M T D 0.825 T T D 0.222 0.237 0.497 0.442 T D D T D D 3.453 24.600 0.998 D D 0.543 5.385 0.519 5.334 1.000 0.632 0.616 0.676 0.742 . 5.090 5.090 5.121 1.026 0.599 1.000 0.998 0.971 579 . . . . DAB2 340 1 339 110 0.244988864142539 TRUE TRUE +ENSG00000070193.5 . BCM GRCh38.p13 chr5 44305111 44305111 + G G A Missense_Mutation SNP ENST00000264664.5 exon3 c.C511T p.H171Y exonic ENSG00000070193.5 . nonsynonymous SNV ENSG00000070193.5:ENST00000264664.5:exon3:c.C511T:p.H171Y 5p12 C3N-00834 . . . . . . . . . 15.20 D D D P D D M D D 0.398 D D D 0.452 0.451 0.782 1.562 T D D T D T 3.706 25.400 0.996 D N 0.664 6.638 0.683 7.444 0.261 0.487 0.574 0.574 0.564 . 5.870 5.870 3.591 1.176 0.676 1.000 1.000 0.988 577 . . . . FGF10 292 0 321 105 0.246478873239437 TRUE NA +ENSG00000080709.16 . BCM GRCh38.p13 chr5 114404849 114404849 + T T G Missense_Mutation SNP ENST00000264773.7 exon3 c.T994G p.C332G exonic ENSG00000080709.16 . nonsynonymous SNV ENSG00000080709.16:ENST00000264773.7:exon3:c.T994G:p.C332G 5q22.3 C3N-00834 . . . . . . . . . 15.20 D D B B D D M T D 0.862 T T D 0.731 0.726 0.632 2.654 D D D D D D 3.493 24.700 0.962 D D 0.340 3.993 0.452 4.751 1.000 0.706 0.547 0.710 0.564 . 5.540 5.540 7.924 1.138 0.609 1.000 1.000 1.000 886 Potassium_channel_domain . . . KCNN2 59 0 60 28 0.318181818181818 TRUE TRUE +ENSG00000120729.10 . BCM GRCh38.p13 chr5 137877619 137877619 + C C T Nonsense_Mutation SNP ENST00000239926.9 exon4 c.C631T p.Q211X exonic ENSG00000120729.10 . stopgain ENSG00000120729.10:ENST00000239926.9:exon4:c.C631T:p.Q211X 5q31.2 C3N-00834 . . . . . . . . . 5.6 . . . . N A . . . 0.790 . . . . . . . . . D D . . 6.731 36 0.997 D D 0.749 7.858 0.559 5.743 0.364 0.554 0.588 0.574 0.564 . 5.700 4.830 3.298 0.088 0.549 0.998 0.754 0.254 139 . . . . MYOT 345 0 308 88 0.222222222222222 TRUE TRUE +ENSG00000164296.7 . BCM GRCh38.p13 chr5 149995856 149995856 + T T C Missense_Mutation SNP ENST00000296736.4 exon2 c.A493G p.K165E exonic ENSG00000164296.7 . nonsynonymous SNV ENSG00000164296.7:ENST00000296736.4:exon2:c.A493G:p.K165E 5q32 C3N-00834 . . . . . . . . . 1.20 T T B B N N N T N 0.322 T T T 0.040 0.454 0.285 0.036 T T T T T T 1.485 15.640 0.956 D N -0.654 0.891 -0.462 1.265 0.999 0.563 0.588 0.602 0.636 . 4.520 2.030 1.432 0.970 0.665 1.000 1.000 0.997 798 . . . . TIGD6 221 1 163 74 0.312236286919831 TRUE TRUE +ENSG00000131016.17 . BCM GRCh38.p13 chr6 151350475 151350475 + G G A Missense_Mutation SNP ENST00000402676.7 exon4 c.G2084A p.G695E exonic ENSG00000131016.17 . nonsynonymous SNV ENSG00000131016.17:ENST00000402676.7:exon4:c.G2084A:p.G695E 6q25.1 C3N-00834 . . . . . . . . . 6.20 D D B B N N L T N 0.180 T T T 0.047 . 0.252 0.510 T T T T D D 1.406 15.120 0.989 D D -0.620 0.952 -0.510 1.187 0.997 0.672 0.486 0.693 0.711 . 5.530 2.710 2.811 0.144 -0.179 0.988 0.914 0.190 928 . . . . AKAP12 179 0 124 9 0.0676691729323308 TRUE NA +ENSG00000153993.13 . BCM GRCh38.p13 chr7 85068211 85068211 + G G A Missense_Mutation SNP ENST00000284136.10 exon5 c.C569T p.P190L exonic ENSG00000153993.13 . nonsynonymous SNV ENSG00000153993.13:ENST00000284136.10:exon5:c.C569T:p.P190L 7q21.11 C3N-00834 8.285e-06 0 0 0 0.0002 0 0 0 rs772215637 9.20 T T D D N D M T D 0.575 T T T 0.282 0.492 0.799 0.544 T T T T D D 3.606 25.100 0.922 D D 0.743 7.764 0.773 9.382 1.000 0.706 0.574 0.618 0.613 . 5.630 5.630 9.507 1.176 0.676 1.000 1.000 1.000 865 Sema_domain . . ID=COSV52400436;OCCURENCE=1(skin) SEMA3D 103 0 161 25 0.134408602150538 TRUE TRUE +ENSG00000205413.8 . BCM GRCh38.p13 chr7 93106095 93106095 + C C A Translation_Start_Site SNP ENST00000379958.3 exon3 c.G3T p.M1? exonic ENSG00000205413.8 . startloss ENSG00000205413.8:ENST00000379958.3:exon3:c.G3T:p.M1? 7q21.2 C3N-00834 . . . . . . . . . 8.18 D D P B N D . T N 0.632 T T T 0.179 0.558 0.592 . . T D D D D 1.439 15.340 0.997 D N 0.218 3.383 0.243 3.402 0.496 0.707 0.725 0.574 0.684 . 4.800 4.800 0.803 0.852 0.580 0.000 0.010 0.009 798 . . . . SAMD9 28 0 42 8 0.16 TRUE TRUE +ENSG00000133627.18 . BCM GRCh38.p13 chr7 152823437 152823437 + T T A Missense_Mutation SNP ENST00000256001.13 exon8 c.T780A p.N260K exonic ENSG00000133627.18 . nonsynonymous SNV ENSG00000133627.18:ENST00000256001.13:exon8:c.T780A:p.N260K 7q36.2 C3N-00834 . . . . . . . . . 4.20 T T P B U D L T N 0.875 T T T 0.117 0.530 0.225 1.163 T T T T D D 0.792 9.316 0.835 D N -1.127 0.283 -1.152 0.325 1.000 0.744 0.630 0.636 0.630 . 3.880 0.017 0.223 -0.148 -0.188 0.992 0.989 0.907 987 . . . . ACTR3B 151 0 133 33 0.198795180722892 NA TRUE +ENSG00000129691.16 . BCM GRCh38.p13 chr8 38119315 38119315 + G G C Missense_Mutation SNP ENST00000343823.11 exon9 c.G899C p.R300P exonic ENSG00000129691.16 . nonsynonymous SNV ENSG00000129691.16:ENST00000343823.11:exon9:c.G899C:p.R300P 8p11.23 C3N-00834 . . . . . . . . . 20.20 D D D D D D M D D 0.553 D D D 0.761 0.325 0.783 2.530 D D D D D D 4.402 31 0.997 D D 0.582 5.748 0.590 6.100 1.000 0.732 0.725 0.744 0.714 . 6.030 5.160 8.675 1.176 0.676 1.000 0.999 0.999 163 . . . . ASH2L 101 0 113 6 0.0504201680672269 TRUE TRUE +ENSG00000147724.12 . BCM GRCh38.p13 chr8 138168020 138168020 + T T C Missense_Mutation SNP ENST00000395297.6 exon12 c.A1133G p.D378G exonic ENSG00000147724.12 . nonsynonymous SNV ENSG00000147724.12:ENST00000395297.6:exon12:c.A1133G:p.D378G 8q24.23 C3N-00834 . . . . . . . . . 14.20 T T D P D D M D N 0.679 D D D 0.464 0.168 0.303 0.257 T T D D D D 4.218 28.800 0.998 D D 0.534 5.314 0.504 5.192 1.000 0.554 0.547 0.602 0.564 . 5.660 5.660 7.358 1.138 0.665 1.000 0.988 0.755 977 . . . . FAM135B 115 0 83 31 0.271929824561404 TRUE TRUE +ENSG00000137101.13 . BCM GRCh38.p13 chr9 35611885 35611885 + T T - Frame_Shift_Del DEL ENST00000259633.9 exon7 c.869delA p.N290Mfs*20 exonic ENSG00000137101.13 . frameshift deletion ENSG00000137101.13:ENST00000259633.9:exon7:c.869delA:p.N290Mfs*20 9p13.3 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD72 161 0 148 55 0.270935960591133 TRUE TRUE +ENSG00000119523.10 . BCM GRCh38.p13 chr9 99221875 99221875 + C C A Missense_Mutation SNP ENST00000476832.2 exon1 c.G20T p.R7L exonic ENSG00000119523.10 . nonsynonymous SNV ENSG00000119523.10:ENST00000476832.2:exon1:c.G20T:p.R7L 9q22.33 C3N-00834 . . . . . . . . . 2.20 D T B B N N N T N 0.296 T T D 0.190 0.291 0.557 0.238 T T T T T T -0.530 0.103 0.811 N N -1.159 0.257 -1.164 0.314 1.000 0.442 0.522 0.522 0.562 . 4.290 1.330 -3.427 0.947 0.599 0.000 0.002 0.001 467 . . . . ALG2 73 0 84 5 0.0561797752808989 NA TRUE +ENSG00000148396.18 . BCM GRCh38.p13 chr9 136460103 136460103 + A A C Missense_Mutation SNP ENST00000313050.11 exon12 c.T5012G p.I1671S exonic ENSG00000148396.18 . nonsynonymous SNV ENSG00000148396.18:ENST00000313050.11:exon12:c.T5012G:p.I1671S 9q34.3 C3N-00834 . . . . . . . . . 13.19 D D D D D D . T D 0.814 T T D 0.498 0.438 0.241 0.434 T T D T D D 4.077 27.600 0.996 D D 0.600 5.927 0.613 6.396 1.000 0.707 0.702 0.702 0.714 . 5.660 5.660 9.024 1.298 0.740 1.000 0.986 0.799 952 Ancestral_coatomer_element_1,_Sec16/Sec31 . . . SEC16A 169 0 152 47 0.236180904522613 TRUE TRUE +ENSG00000065328.16 . BCM GRCh38.p13 chr10 13186191 13186191 + A A G Missense_Mutation SNP ENST00000484800.6 exon9 c.A1129G p.K377E exonic ENSG00000065328.16 . nonsynonymous SNV ENSG00000065328.16:ENST00000484800.6:exon9:c.A1129G:p.K377E 10p13 C3N-00834 . . . . . . . . . 14.20 D D D D D D M T D 0.930 T T T 0.512 0.423 0.450 0.609 T T D D D D 4.096 27.700 0.999 D D 0.867 10.245 0.831 11.091 1.000 0.707 0.654 0.725 0.714 . 5.780 5.780 9.040 1.312 0.756 1.000 0.995 0.986 867 . . . . MCM10 151 0 183 13 0.0663265306122449 TRUE NA +ENSG00000107890.16 . BCM GRCh38.p13 chr10 27022676 27022676 + A A C Missense_Mutation SNP ENST00000376087.4 exon29 c.T4097G p.L1366R exonic ENSG00000107890.16 . nonsynonymous SNV ENSG00000107890.16:ENST00000376087.4:exon29:c.T4097G:p.L1366R 10p12.1 C3N-00834 . . . . . . . . . 4.17 D T . . U N . T D 0.426 T T D 0.159 . 0.757 0.363 T T T T D T 2.974 23.400 0.741 N N -0.199 1.880 -0.350 1.465 0.013 0.651 0.634 0.618 0.684 . 4.590 0.554 2.087 0.260 0.751 0.869 0.961 0.877 824 . . . . ANKRD26 38 0 58 4 0.0645161290322581 TRUE TRUE +ENSG00000165406.16 . BCM GRCh38.p13 chr10 45459130 45459130 + C C - Frame_Shift_Del DEL ENST00000319836.7 exon6 c.561delG p.Q188Rfs*6 exonic ENSG00000165406.16 . frameshift deletion ENSG00000165406.16:ENST00000319836.7:exon6:c.561delG:p.Q188Rfs*6 10q11.21 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARCHF8 313 0 123 56 0.312849162011173 TRUE TRUE +ENSG00000177354.12 . BCM GRCh38.p13 chr10 49322802 49322802 + C C A Missense_Mutation SNP ENST00000374144.8 exon3 c.C257A p.P86Q exonic ENSG00000177354.12 . nonsynonymous SNV ENSG00000177354.12:ENST00000374144.8:exon3:c.C257A:p.P86Q 10q11.23 C3N-00834 . . . . . . . . . 3.15 T D . . N N . T D 0.547 T T T 0.074 0.269 0.254 0.824 . . T T D T 1.644 16.650 0.965 N N -0.112 2.137 -0.188 1.815 0.410 0.447 0.563 0.547 0.613 . 5.330 2.190 0.821 1.026 0.599 0.109 0.005 0.111 894 . . . . C10orf71 97 0 95 42 0.306569343065693 TRUE TRUE +ENSG00000279395.3 . BCM GRCh38.p13 chr11 55811982 55811982 + T T A Missense_Mutation SNP ENST00000625203.2 exon1 c.T516A p.N172K exonic ENSG00000279395.3 . nonsynonymous SNV ENSG00000279395.3:ENST00000625203.2:exon1:c.T516A:p.N172K 11q12.1 C3N-00834 . . . . . . . . . 2.16 . . P B D N L . . . T T T 0.044 0.599 . . T T T T D T 0.973 11.280 0.980 N N -0.585 1.014 -0.718 0.874 0.000 0.487 0.574 0.574 0.564 . 4.120 0.229 -1.064 0.831 0.460 0.000 0.021 0.089 155 GPCR,_rhodopsin-like,_7TM . . . OR5L1 201 0 154 63 0.290322580645161 NA TRUE +ENSG00000197629.6 . BCM GRCh38.p13 chr11 59211040 59211040 + G G A Missense_Mutation SNP ENST00000361050.4 exon1 c.C1826T p.T609I exonic ENSG00000197629.6 . nonsynonymous SNV ENSG00000197629.6:ENST00000361050.4:exon1:c.C1826T:p.T609I 11q12.1 C3N-00834 . . . . . . . . . 12.20 D T D D D D M T D 0.724 T T T 0.338 0.472 0.478 0.362 T T D D D T 3.596 25.000 0.997 D D 0.778 8.369 0.732 8.389 1.000 0.497 0.522 0.547 0.542 . 5.690 5.690 8.941 1.176 0.676 1.000 0.997 0.830 559 . . . . MPEG1 209 0 196 64 0.246153846153846 TRUE TRUE +ENSG00000174791.11 . BCM GRCh38.p13 chr11 66333359 66333359 + G G C Missense_Mutation SNP ENST00000311320.9 exon9 c.C1774G p.L592V exonic ENSG00000174791.11 . nonsynonymous SNV ENSG00000174791.11:ENST00000311320.9:exon9:c.C1774G:p.L592V 11q13.2 C3N-00834 . . . . . . . . . 5.20 D D P P N N M T N 0.584 T T T 0.159 0.440 0.391 0.707 T T T T D T 2.431 22.200 0.998 D N 0.276 3.657 0.204 3.202 1.000 0.646 0.588 0.645 0.636 . 4.950 3.790 0.621 1.176 0.676 0.097 0.267 0.060 63 VPS9_domain . . . RIN1 116 0 91 35 0.277777777777778 TRUE TRUE +ENSG00000254986.7 . BCM GRCh38.p13 chr11 66482207 66482207 + G G T Missense_Mutation SNP ENST00000541961.5 exon2 c.G7T p.D3Y exonic ENSG00000254986.7 . nonsynonymous SNV ENSG00000254986.7:ENST00000541961.5:exon2:c.G7T:p.D3Y 11q13.2 C3N-00834 . . . . . . . . . 14.20 D D D D D D M T D 0.840 T T T 0.438 0.649 0.560 . T T D D D D 3.856 26.100 0.994 D D 0.734 7.616 0.747 8.735 1.000 0.742 0.775 0.644 0.714 . 5.710 5.710 6.215 1.176 0.671 1.000 1.000 1.000 58 . . . . DPP3 144 0 162 54 0.25 TRUE TRUE +ENSG00000166250.12 . BCM GRCh38.p13 chr11 123073773 123073773 + C C A Nonsense_Mutation SNP ENST00000448775.4 exon7 c.G823T p.E275X exonic ENSG00000166250.12 . stopgain ENSG00000166250.12:ENST00000448775.4:exon7:c.G823T:p.E275X 11q24.1 C3N-00834 . . . . . . . . . 6.6 . . . . D D . . . 0.823 . . . . . . . . . D D . . 7.989 40 0.997 D D 1.166 21.070 1.018 20.013 1.000 0.732 0.588 0.744 0.613 . 5.440 5.440 7.251 1.026 0.599 1.000 0.998 0.971 957 . . . . CLMP 37 0 46 4 0.08 TRUE NA +ENSG00000110799.13 . BCM GRCh38.p13 chr12 5996152 5996152 + G G T Missense_Mutation SNP ENST00000261405.9 exon35 c.C5913A p.S1971R exonic ENSG00000110799.13 . nonsynonymous SNV ENSG00000110799.13:ENST00000261405.9:exon35:c.C5913A:p.S1971R 12p13.31 C3N-00834 . . . . . . . . . 8.20 T T B B N D M T N 0.370 T T D 0.213 0.612 0.842 0.342 T T D T D D 2.646 22.700 0.990 D D 0.205 3.326 0.306 3.754 1.000 0.722 0.563 0.547 0.735 . 5.550 4.650 2.705 1.176 0.676 1.000 0.999 0.999 947 von_Willebrand_factor,_type_D_domain . . . VWF 357 0 294 117 0.284671532846715 TRUE TRUE +ENSG00000173157.17 . BCM GRCh38.p13 chr12 43446689 43446689 + T T G Missense_Mutation SNP ENST00000389420.8 exon15 c.A2103C p.L701F exonic ENSG00000173157.17 . nonsynonymous SNV ENSG00000173157.17:ENST00000389420.8:exon15:c.A2103C:p.L701F 12q12 C3N-00834 . . . . . . . . . 10.17 D D . . N D M T D 0.768 T T D 0.493 0.394 0.806 0.266 T . D T D D 2.467 22.300 0.999 D N 0.281 3.682 0.133 2.873 0.000 0.638 0.574 0.653 0.564 . 5.070 0.092 -0.009 0.202 -0.123 0.941 0.994 0.748 869 . . . . ADAMTS20 185 0 180 73 0.288537549407115 TRUE TRUE +ENSG00000166866.13 . BCM GRCh38.p13 chr12 57043129 57043129 + C C A Missense_Mutation SNP ENST00000300119.8 exon12 c.G1041T p.K347N exonic ENSG00000166866.13 . nonsynonymous SNV ENSG00000166866.13:ENST00000300119.8:exon12:c.G1041T:p.K347N 12q13.3 C3N-00834 . . . . . . . . . 18.20 D D D D D D H T D 0.959 D D D 0.721 0.874 0.953 0.493 T D D D D D 3.962 26.700 0.999 D D 0.952 12.477 0.818 10.671 0.806 0.447 0.547 0.573 0.530 . 5.170 5.170 3.057 1.026 0.599 1.000 1.000 0.993 178 Class_I_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO1A 714 0 663 248 0.272228320526893 TRUE TRUE +ENSG00000111199.11 . BCM GRCh38.p13 chr12 109808406 109808406 + T T C Missense_Mutation SNP ENST00000261740.7 exon3 c.A449G p.N150S exonic ENSG00000111199.11 . nonsynonymous SNV ENSG00000111199.11:ENST00000261740.7:exon3:c.A449G:p.N150S 12q24.11 C3N-00834 . . . . . . . . . 11.20 D T D P N D L D N 0.333 D D D 0.276 0.378 0.894 0.331 T T T T D D 2.324 21.700 0.987 D D 0.017 2.570 0.081 2.659 0.997 0.706 0.574 0.659 0.613 . 3.660 3.660 4.704 1.117 0.581 1.000 1.000 0.995 706 . . . . TRPV4 257 0 250 81 0.244712990936556 TRUE TRUE +ENSG00000139718.10 . BCM GRCh38.p13 chr12 121823540 121823540 + T T A Missense_Mutation SNP ENST00000604567.5 exon12 c.T4961A p.V1654E exonic ENSG00000139718.10 . nonsynonymous SNV ENSG00000139718.10:ENST00000604567.5:exon12:c.T4961A:p.V1654E 12q24.31 C3N-00834 . . . . . . . . . 9.18 D T . . N N M D D 0.633 T D D 0.295 - 0.591 1.987 T T D D T T 2.683 22.800 0.906 D N -0.414 1.353 -0.383 1.403 0.138 0.672 0.702 0.723 0.636 . 4.860 1.270 2.101 1.138 0.665 0.977 0.929 0.567 619 . . . . SETD1B 153 0 150 64 0.299065420560748 TRUE TRUE +ENSG00000282639.1 . BCM GRCh38.p13 chr14 106088546 106088546 + G G C Missense_Mutation SNP ENST00000632099.1 exon1 c.C28G p.L10V exonic ENSG00000282639.1 . nonsynonymous SNV ENSG00000282639.1:ENST00000632099.1:exon1:c.C28G:p.L10V 14q32.33 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHV3-64D 38 0 23 9 0.28125 NA TRUE +ENSG00000172183.15 . BCM GRCh38.p13 chr15 88655454 88655454 + G G A Missense_Mutation SNP ENST00000306072.10 exon4 c.G469A p.A157T exonic ENSG00000172183.15 . nonsynonymous SNV ENSG00000172183.15:ENST00000306072.10:exon4:c.G469A:p.A157T 15q26.1 C3N-00834 . . . . . . . . . 5.20 T T D P N N L T N 0.612 T T D 0.188 0.752 0.485 0.636 T T T T D D 2.822 23.100 0.996 D N 0.148 3.080 0.049 2.536 1.000 0.706 0.702 0.710 0.655 . 4.100 4.100 2.889 1.176 0.618 0.935 0.021 0.113 916 Exonuclease,_RNase_T/DNA_polymerase_III . . . ISG20 240 0 117 45 0.277777777777778 TRUE TRUE +ENSG00000183024.3 . BCM GRCh38.p13 chr17 3126829 3126829 + G G C Missense_Mutation SNP ENST00000328890.2 exon1 c.C723G p.C241W exonic ENSG00000183024.3 . nonsynonymous SNV ENSG00000183024.3:ENST00000328890.2:exon1:c.C723G:p.C241W 17p13.3 C3N-00834 . . . . . . . . . 8.19 D D D D . D H T D 0.819 T T T 0.219 0.593 0.678 0.326 T T T T D T 2.852 23.100 0.993 N N 0.220 3.393 -0.037 2.237 0.000 0.487 0.574 0.547 0.564 . 4.640 -1.290 -0.335 -0.729 0.474 0.000 0.096 0.983 721 GPCR,_rhodopsin-like,_7TM . . . OR1G1 157 0 110 53 0.325153374233129 TRUE TRUE +ENSG00000029725.17 . BCM GRCh38.p13 chr17 5361608 5361608 + G G C Missense_Mutation SNP ENST00000537505.6 exon9 c.G1496C p.S499T exonic ENSG00000029725.17 . nonsynonymous SNV ENSG00000029725.17:ENST00000537505.6:exon9:c.G1496C:p.S499T 17p13.2 C3N-00834 . . . . . . . . rs79636407 2.20 T T B B N D N T N 0.153 T T T 0.070 0.681 0.223 . T T T T T T 1.100 12.780 0.600 D N -0.779 0.686 -0.552 1.119 0.844 0.722 0.702 0.699 0.714 . 5.540 3.570 1.613 0.223 -0.110 0.999 0.961 0.806 504 . . . . RABEP1 147 0 105 66 0.385964912280702 TRUE NA +ENSG00000197863.9 . BCM GRCh38.p13 chr19 36819127 36819127 + C C T Missense_Mutation SNP ENST00000356725.9 exon5 c.G1217A p.S406N exonic ENSG00000197863.9 . nonsynonymous SNV ENSG00000197863.9:ENST00000356725.9:exon5:c.G1217A:p.S406N 19q13.12 C3N-00834 8.283e-06 0 0 0 0 1.507e-05 0 0 rs750365504 0.19 T T P B . N L T N 0.103 T T T 0.058 0.251 0.460 0.048 T T T T T T 0.129 2.363 0.933 N N -0.601 0.985 -0.681 0.927 0.184 0.476 0.602 0.537 0.221 . 3.140 2.040 -0.325 -0.442 0.243 0.000 0.000 0.969 588 Zinc_finger_C2H2-type . . ID=COSV100764794;OCCURENCE=1(liver) ZNF790 77 0 66 29 0.305263157894737 TRUE NA +ENSG00000083838.16 . BCM GRCh38.p13 chr19 58477519 58477519 + G G T Missense_Mutation SNP ENST00000594369.6 exon2 c.G301T p.V101F exonic ENSG00000083838.16 . nonsynonymous SNV ENSG00000083838.16:ENST00000594369.6:exon2:c.G301T:p.V101F 19q13.43 C3N-00834 . . . . . . . . . 11.20 D D D D N D H T D 0.780 T T D 0.215 0.612 0.501 0.452 T T T T D D 3.624 25.100 0.993 D N 0.665 6.657 0.508 5.236 1.000 0.660 0.634 0.696 0.700 . 4.350 4.350 2.127 1.176 0.618 0.997 0.015 0.116 911 SCAN_domain . . . ZNF446 96 0 80 36 0.310344827586207 TRUE TRUE +ENSG00000172315.6 . BCM GRCh38.p13 chr20 46689303 46689303 + G G T Missense_Mutation SNP ENST00000372102.3 exon1 c.C112A p.L38M exonic ENSG00000172315.6 . nonsynonymous SNV ENSG00000172315.6:ENST00000372102.3:exon1:c.C112A:p.L38M 20q13.12 C3N-00834 . . . . . . . . . 9.20 T D D P D D M T N 0.358 T T D 0.108 0.558 0.148 0.656 D T T T D T 3.532 24.800 0.995 D N 0.497 5.014 0.486 5.033 1.000 0.442 0.522 0.522 0.373 . 4.610 4.610 2.521 1.172 0.672 1.000 0.997 0.996 963 Protein_kinase_domain . . . TP53RK 166 1 162 47 0.22488038277512 TRUE TRUE +ENSG00000099904.15 . BCM GRCh38.p13 chr22 20132033 20132033 + C C G Missense_Mutation SNP ENST00000334554.11 exon1 c.C86G p.T29S exonic ENSG00000099904.15 . nonsynonymous SNV ENSG00000099904.15:ENST00000334554.11:exon1:c.C86G:p.T29S 22q11.21 C3N-00834 . . . . . . . . . 9.20 T T P B U D L D N 0.424 D D D 0.455 0.537 0.663 2.038 D T T T D T 2.458 22.300 0.932 D D 0.053 2.705 0.112 2.785 1.000 0.767 0.686 0.851 0.555 . 3.930 2.800 2.626 0.969 0.467 0.708 0.993 0.989 615 . . . . ZDHHC8 70 0 68 7 0.0933333333333333 TRUE TRUE +ENSG00000099994.11 . BCM GRCh38.p13 chr22 24185546 24185546 + C C A Missense_Mutation SNP ENST00000358321.4 exon7 c.C1045A p.H349N exonic ENSG00000099994.11 . nonsynonymous SNV ENSG00000099994.11:ENST00000358321.4:exon7:c.C1045A:p.H349N 22q11.23 C3N-00834 . . . . . . . . . 11.20 D D P P D D M T D 0.809 T T D 0.215 0.772 0.372 0.746 T T T T D D 3.186 23.800 0.989 D D 0.218 3.382 0.206 3.215 1.000 0.646 0.547 0.645 0.613 . 4.260 3.210 4.494 0.103 0.595 1.000 0.740 0.817 814 AMOP_domain . . . SUSD2 174 0 173 61 0.260683760683761 TRUE TRUE +ENSG00000196998.19 . BCM GRCh38.p13 chrX 49075736 49075736 + C C - Frame_Shift_Del DEL ENST00000376358.4 exon5 c.228delG p.K76Nfs*18 exonic ENSG00000196998.19;ENSG00000288053.1 . frameshift deletion ENSG00000288053.1:ENST00000376358.4:exon5:c.228delG:p.K76Nfs*18,ENSG00000196998.19:ENST00000376372.9:exon8:c.534delG:p.K178Nfs*18 Xp11.23 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR45 147 0 61 94 0.606451612903226 NA TRUE +ENSG00000099715.14 . BCM GRCh38.p13 chrY 5057386 5057386 + C C T Missense_Mutation SNP ENST00000400457.3 exon1 c.C563T p.S188F exonic ENSG00000099715.14 . nonsynonymous SNV ENSG00000099715.14:ENST00000400457.3:exon1:c.C563T:p.S188F Yp11.2 C3N-00834 . . . . . . . . . 9.14 D D D D . D L T D 0.495 . . D . . 0.899 1.014 . T T T . D 3.328 24.200 0.997 D . . . . . 0.000 . . . . . 2.860 2.860 1.707 0.777 0.284 0.950 0.982 0.814 . Cadherin-like . . ID=COSV53077096;OCCURENCE=1(lung) PCDH11Y 198 0 236 16 0.0634920634920635 NA TRUE +ENSG00000067798.16 . BCM GRCh38.p13 chr12 78146393 78146393 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000067798.16 ENST00000397909.7:exon21:c.4707+1G>A . . 12q21.2 C3N-00834 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.809 35 0.996 D . 1.217 25.336 1.073 24.247 1.000 0.049 0.069 0.067 0.060 0.987 5.380 5.380 8.087 1.176 0.676 1.000 0.997 0.973 926 . . . . NAV3 14 0 14 6 0.3 NA TRUE +ENSG00000104885.18 . BCM GRCh38.p13 chr19 2225387 2225387 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000104885.18 ENST00000398665.8:exon26:c.3597-1G>T . . 19p13.3 C3N-00834 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.574 34 0.995 D . 1.040 15.215 0.843 11.511 1.000 0.257 0.272 0.129 0.090 0.968 4.900 4.900 8.588 1.172 0.672 1.000 0.872 0.424 964 . . . ID=COSV101288875;OCCURENCE=1(endometrium) DOT1L 124 2 142 57 0.28643216080402 TRUE TRUE +ENSG00000214357.9 . BCM GRCh38.p13 chr5 172684053 172684053 + C C T Silent SNP ENST00000369800.6 exon3 c.C1212T p.G404G exonic ENSG00000214357.9 . synonymous SNV ENSG00000214357.9:ENST00000369800.6:exon3:c.C1212T:p.G404G 5q35.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEURL1B 44 0 23 3 0.115384615384615 TRUE NA +ENSG00000096433.11 . BCM GRCh38.p13 chr6 33673710 33673710 + C C T Silent SNP ENST00000605930.3 exon23 c.C3048T p.F1016F exonic ENSG00000096433.11 . synonymous SNV ENSG00000096433.11:ENST00000605930.3:exon23:c.C3048T:p.F1016F 6p21.31 C3N-00834 0.0008 0 0.0013 0.0002 0 0.0010 0.0033 0.0007 rs146528103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65406190;OCCURENCE=1(stomach) ITPR3 92 0 82 41 0.333333333333333 TRUE TRUE +ENSG00000129422.14 . BCM GRCh38.p13 chr8 17655953 17655953 + C C A Silent SNP ENST00000262102.10 exon9 c.G3018T p.R1006R exonic ENSG00000129422.14 . synonymous SNV ENSG00000129422.14:ENST00000262102.10:exon9:c.G3018T:p.R1006R 8p22 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTUS1 417 1 495 171 0.256756756756757 TRUE TRUE +ENSG00000182255.7 . BCM GRCh38.p13 chr11 30011851 30011851 + C C T Silent SNP ENST00000328224.7 exon2 c.G828A p.V276V exonic ENSG00000182255.7 . synonymous SNV ENSG00000182255.7:ENST00000328224.7:exon2:c.G828A:p.V276V 11p14.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNA4 187 0 151 74 0.328888888888889 TRUE TRUE +ENSG00000174937.4 . BCM GRCh38.p13 chr11 56469793 56469793 + G G C Silent SNP ENST00000641993.1 exon2 c.C705G p.A235A exonic ENSG00000174937.4 . synonymous SNV ENSG00000174937.4:ENST00000641993.1:exon2:c.C705G:p.A235A 11q12.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5M3 87 0 52 22 0.297297297297297 NA TRUE +ENSG00000172803.18 . BCM GRCh38.p13 chr11 65852946 65852946 + C C G Silent SNP ENST00000308342.7 exon12 c.C1146G p.L382L exonic ENSG00000172803.18 . synonymous SNV ENSG00000172803.18:ENST00000308342.7:exon12:c.C1146G:p.L382L 11q13.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX32 140 0 152 54 0.262135922330097 TRUE TRUE +ENSG00000064687.13 . BCM GRCh38.p13 chr19 1052090 1052090 + G G T Silent SNP ENST00000263094.11 exon22 c.G3111T p.L1037L exonic ENSG00000064687.13 . synonymous SNV ENSG00000064687.13:ENST00000263094.11:exon22:c.G3111T:p.L1037L 19p13.3 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCA7 151 0 141 49 0.257894736842105 TRUE TRUE +ENSG00000141956.13 . BCM GRCh38.p13 chr21 41854642 41854642 + C C T Silent SNP ENST00000269844.4 exon12 c.G1560A p.L520L exonic ENSG00000141956.13 . synonymous SNV ENSG00000141956.13:ENST00000269844.4:exon12:c.G1560A:p.L520L 21q22.3 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM15 261 0 203 103 0.336601307189543 TRUE TRUE +ENSG00000116044.16 . BCM GRCh38.p13 chr2 177233977 177233977 + A A C Intron SNP NA NA NA NA intronic ENSG00000116044.16 . . . 2q31.2 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFE2L2 139 0 212 54 0.203007518796992 TRUE NA +ENSG00000164188.8 . BCM GRCh38.p13 chr5 36256894 36256894 + C C G Intron SNP NA NA NA NA intronic ENSG00000164188.8 . . . 5p13.2 C3N-00834 . . . . . . . . . 1.13 D . . . . N . T N 0.111 T T T 0.009 0.194 0.048 . . . T T T T 0.112 2.200 0.986 N N -0.584 1.017 -0.768 0.803 0.229 0.487 0.574 0.574 0.564 . 4.030 -0.208 -0.563 -0.016 0.549 0.000 0.029 0.282 608 . . . . RANBP3L 40 0 49 19 0.279411764705882 TRUE NA +ENSG00000145730.20 . BCM GRCh38.p13 chr5 102987549 102987549 + C C A Intron SNP NA NA NA NA intronic ENSG00000145730.20 . . . 5q21.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAM 48 0 67 4 0.0563380281690141 TRUE NA +ENSG00000204697.3 . BCM GRCh38.p13 chr6 29263581 29263581 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000204697.3 . . . 6p22.1 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR2U1P 60 0 62 12 0.162162162162162 TRUE NA +ENSG00000184925.12 . BCM GRCh38.p13 chr9 136954524 136954524 + C C T Intron SNP NA NA NA NA intronic ENSG00000184925.12 . . . 9q34.3 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LCN12 101 1 72 12 0.142857142857143 TRUE NA +ENSG00000050438.17 . BCM GRCh38.p13 chr12 51480083 51480083 + G G T Intron SNP NA NA NA NA intronic ENSG00000050438.17 . . . 12q13.13 C3N-00834 . . . . . . . . . 2.14 D D . . . N . T N 0.275 T T T 0.046 0.456 0.103 . . . T T T T 0.093 2.030 0.710 N N -0.684 0.839 -0.930 0.580 0.107 0.554 0.624 0.602 0.613 . 0.225 0.225 0.531 0.585 0.590 0.036 0.071 0.053 252 . . . . SLC4A8 43 0 39 3 0.0714285714285714 TRUE NA +ENSG00000211829.9 . BCM GRCh38.p13 chr14 22465913 22465913 + A A C 3'Flank SNP NA NA NA NA downstream ENSG00000211829.9 dist=126 . . 14q11.2 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRDC 96 0 89 33 0.270491803278689 TRUE NA +ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673242 7673242 + A A G Intron SNP NA NA NA NA intronic ENSG00000141510.17 . . . 17p13.1 C3N-00834 . . . . . . . . . 6.17 D D B B . N . D N 0.204 D D D 0.287 0.556 0.585 . . T T T T T 1.073 12.500 0.956 N N -0.877 0.549 -0.979 0.516 0.001 0.672 0.702 0.609 0.323 . 0.893 -0.250 0.371 0.149 0.751 0.002 0.391 0.998 439 . . . . TP53 153 0 292 8 0.0266666666666667 TRUE TRUE +ENSG00000159110.20 . BCM GRCh38.p13 chr21 33252146 33252146 + T T A Intron SNP NA NA NA NA intronic ENSG00000159110.20;ENSG00000249624.9 . . . 21q22.11 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFNAR2 73 0 91 29 0.241666666666667 TRUE NA +ENSG00000223611.5 . BCM GRCh38.p13 chrX 24314054 24314054 + G G T 5'Flank SNP NA NA NA NA upstream ENSG00000223611.5 dist=739 . . Xp22.11 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUPT20HL2 32 0 17 19 0.527777777777778 TRUE NA +ENSG00000153885.14 . BCM GRCh38.p13 chr19 33806986 33806987 + GC GC AA Unknown MNP ENST00000430256.3 exon4 c.366_367delinsAA p.L123M exonic ENSG00000153885.14 . nonframeshift substitution ENSG00000153885.14:ENST00000430256.3:exon4:c.366_367delinsAA:p.L123M 19q13.11 C3N-00834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD15 114 0 100 29 0.224806201550388 TRUE TRUE +ENSG00000054523.17 . BCM GRCh38.p13 chr1 10360991 10360991 + G G A Missense_Mutation SNP ENST00000377086.5 exon39 c.G4118A p.R1373Q exonic ENSG00000054523.17 . nonsynonymous SNV ENSG00000054523.17:ENST00000377086.5:exon39:c.G4118A:p.R1373Q 1p36.22 C3N-00852 8.237e-06 0 0 0 0 1.498e-05 0 0 rs774615554 19.20 D D D P D D M D D 0.983 D D D 0.854 0.791 0.961 0.508 D D D D D D 4.303 29.600 0.999 D D 0.760 8.051 0.779 9.536 1.000 0.719 0.654 0.702 0.734 . 5.440 5.440 10.003 1.163 0.674 1.000 1.000 0.998 219 Kinesin-like . . ID=COSV104565402;OCCURENCE=1(skin) KIF1B 434 0 290 108 0.271356783919598 TRUE NA +ENSG00000183317.17 . BCM GRCh38.p13 chr1 37753167 37753167 + G G A Nonsense_Mutation SNP ENST00000373048.9 exon5 c.C1066T p.R356X exonic ENSG00000183317.17 . stopgain ENSG00000183317.17:ENST00000373048.9:exon5:c.C1066T:p.R356X 1p34.3 C3N-00852 0.0004 0.0179 0 0 0 0 0 0 rs575487178 4.5 . . . . . D . . . 0.090 . . . . . . . . . D D . . 7.161 37 0.998 D N 0.621 6.146 0.361 4.094 1.000 0.598 0.492 0.504 0.639 . 2.510 2.510 0.432 -0.025 0.424 0.465 0.996 0.950 843 Fibronectin_type_III . . . EPHA10 67 1 51 12 0.19047619047619 TRUE NA +ENSG00000131233.10 . BCM GRCh38.p13 chr1 38875227 38875227 + T T G Missense_Mutation SNP ENST00000357771.5 exon2 c.A872C p.Q291P exonic ENSG00000131233.10 . nonsynonymous SNV ENSG00000131233.10:ENST00000357771.5:exon2:c.A872C:p.Q291P 1p34.3 C3N-00852 . . . . . . . . . 7.20 D T B B N N L D N 0.447 D D T 0.308 0.290 0.549 0.161 T T D T D T 1.788 17.640 0.968 D N -0.565 1.051 -0.490 1.219 1.000 0.554 0.588 0.602 0.613 . 4.940 0.932 2.667 0.970 0.665 0.997 0.979 0.998 940 . . . . GJA9 167 0 75 69 0.479166666666667 TRUE TRUE +ENSG00000127124.16 . BCM GRCh38.p13 chr1 41582895 41582895 + C C A Missense_Mutation SNP ENST00000372583.6 exon4 c.G1903T p.G635C exonic ENSG00000127124.16 . nonsynonymous SNV ENSG00000127124.16:ENST00000372583.6:exon4:c.G1903T:p.G635C 1p34.2 C3N-00852 . . . . . . . . . 9.20 D T D D D D L T N 0.816 T T T 0.202 0.213 0.287 0.767 T T D T D T 3.684 25.300 0.996 D D 0.448 4.659 0.435 4.615 1.000 0.732 0.744 0.547 0.568 . 4.470 4.470 3.482 0.128 0.599 1.000 1.000 0.997 486 . . . . HIVEP3 284 1 232 71 0.234323432343234 TRUE TRUE +ENSG00000171502.15 . BCM GRCh38.p13 chr1 85896032 85896032 + G G T Missense_Mutation SNP ENST00000370571.7 exon30 c.C2866A p.H956N exonic ENSG00000171502.15 . nonsynonymous SNV ENSG00000171502.15:ENST00000370571.7:exon30:c.C2866A:p.H956N 1p22.3 C3N-00852 . . . . . . . . . 1.20 T T B B N N N D N 0.331 T T T 0.200 0.266 0.367 0.037 T T T T T T 1.496 15.710 0.830 N N -0.846 0.591 -0.737 0.847 0.001 0.638 0.670 0.618 0.542 . 5.460 1.040 1.055 0.219 0.672 0.766 0.970 0.997 686 . . . . COL24A1 109 0 67 52 0.436974789915966 TRUE NA +ENSG00000085465.13 . BCM GRCh38.p13 chr1 111426524 111426524 + A A T Missense_Mutation SNP ENST00000369732.4 exon3 c.T173A p.F58Y exonic ENSG00000085465.13 . nonsynonymous SNV ENSG00000085465.13:ENST00000369732.4:exon3:c.T173A:p.F58Y 1p13.2 C3N-00852 8.239e-06 0 0 0 0 1.499e-05 0 0 rs755771009 12.20 D D D D D D M T D 0.596 T T T 0.270 0.880 0.507 0.502 T T T T D D 3.328 24.200 0.996 D D 0.580 5.729 0.495 5.118 0.986 0.638 0.588 0.653 0.616 . 4.470 3.330 6.759 1.099 0.667 1.000 0.956 0.998 748 Chitinase_II;Glycoside_hydrolase_family_18,_catalytic_domain . . . OVGP1 403 0 222 164 0.424870466321244 TRUE NA +ENSG00000143319.17 . BCM GRCh38.p13 chr1 156726983 156726983 + C C A Missense_Mutation SNP ENST00000368219.2 exon2 c.G670T p.D224Y exonic ENSG00000143319.17 . nonsynonymous SNV ENSG00000143319.17:ENST00000368219.2:exon2:c.G670T:p.D224Y 1q23.1 C3N-00852 . . . . . . . . . 15.20 D D D D D D H T D 0.821 T T D 0.310 0.866 0.454 1.099 T T D D D D 3.977 26.800 0.995 D D 0.658 6.574 0.475 4.935 1.000 0.675 0.522 0.639 0.756 . 4.720 1.680 2.557 0.136 0.596 0.991 0.998 0.997 502 Exonuclease,_RNase_T/DNA_polymerase_III;ISG20,_DEDDh_3'-5'_exonuclease_domain . . . ISG20L2 116 1 90 13 0.12621359223301 TRUE TRUE +ENSG00000143643.13 . BCM GRCh38.p13 chr1 230923883 230923883 + C C A Missense_Mutation SNP ENST00000366661.9 exon15 c.G1772T p.R591L exonic ENSG00000143643.13 . nonsynonymous SNV ENSG00000143643.13:ENST00000366661.9:exon15:c.G1772T:p.R591L 1q42.2 C3N-00852 . . . . . . . . . 5.20 T T P B D N N T D 0.781 T T T 0.182 0.414 0.704 0.379 T T T T D D 2.828 23.100 0.995 D N -0.192 1.900 -0.078 2.110 0.001 0.707 0.725 0.659 0.714 . 5.480 2.570 2.270 0.088 0.599 0.992 0.997 1.000 840 . . . . TTC13 104 0 56 42 0.428571428571429 TRUE TRUE +ENSG00000048991.16 . BCM GRCh38.p13 chr2 135715563 135715563 + T T A Missense_Mutation SNP ENST00000264160.8 exon23 c.T2645A p.L882H exonic ENSG00000048991.16 . nonsynonymous SNV ENSG00000048991.16:ENST00000264160.8:exon23:c.T2645A:p.L882H 2q21.3 C3N-00852 . . . . . . . . . 11.20 D T D P N D L T D 0.761 T T D 0.252 0.145 0.587 0.905 T T D D D D 4.254 29.200 0.984 D D 0.680 6.849 0.679 7.383 0.999 0.719 0.725 0.725 0.734 . 5.510 5.510 7.258 1.134 0.661 1.000 1.000 0.999 287 . . . . R3HDM1 95 0 45 32 0.415584415584416 TRUE TRUE +ENSG00000082438.17 . BCM GRCh38.p13 chr2 164704960 164704960 + C C T Missense_Mutation SNP ENST00000375458.6 exon7 c.G1142A p.R381H exonic ENSG00000082438.17 . nonsynonymous SNV ENSG00000082438.17:ENST00000375458.6:exon7:c.G1142A:p.R381H 2q24.3 C3N-00852 8.891e-06 9.752e-05 0 0 0 0 0 0 rs149882271 0.19 T T B B N N N . N 0.124 T T T 0.009 0.064 0.136 0.058 T T T T T T -0.831 0.021 0.895 N N -1.789 0.025 -1.818 0.031 1.000 0.732 0.590 0.602 0.728 . 5.740 -6.740 -0.493 -2.249 -1.877 0.000 0.000 0.000 873 . . . ID=COSV52063648;OCCURENCE=1(large_intestine) COBLL1 34 0 19 19 0.5 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178729076 178729076 + A A T Missense_Mutation SNP ENST00000591111.5 exon63 c.T18011A p.I6004N exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon63:c.T18011A:p.I6004N 2q31.2 C3N-00852 . . . . . . . . . 7.16 D . P P . D . T D 0.583 D T D 0.420 0.478 0.838 0.423 T . T T T T 3.178 23.800 0.916 D D 0.757 7.991 0.740 8.565 1.000 0.487 0.574 0.547 0.564 . 5.930 5.930 7.406 1.312 0.756 0.997 1.000 0.982 343 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 65 0 62 9 0.126760563380282 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178782582 178782582 + C C T Missense_Mutation SNP ENST00000591111.5 exon19 c.G3121A p.E1041K exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon19:c.G3121A:p.E1041K 2q31.2 C3N-00852 . . . . . . . . rs201869200 9.17 T D B B . N . T D 0.753 T T D 0.255 0.466 0.290 0.095 T . D D D D 2.603 22.600 0.995 D D 0.074 2.784 0.268 3.537 0.529 0.516 0.187 0.545 0.586 . 5.540 5.540 5.387 1.026 0.599 1.000 1.000 0.989 360 . . . ID=COSV60034296;OCCURENCE=2(skin) TTN 240 0 213 33 0.134146341463415 TRUE TRUE +ENSG00000188738.15 . BCM GRCh38.p13 chr2 185802807 185802807 + A A - Frame_Shift_Del DEL ENST00000424728.6 exon17 c.13501delA p.N4501Ifs*9 exonic ENSG00000188738.15 . frameshift deletion ENSG00000188738.15:ENST00000424728.6:exon17:c.13501delA:p.N4501Ifs*9 2q32.1 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FSIP2 49 0 27 20 0.425531914893617 TRUE TRUE +ENSG00000135924.15 . BCM GRCh38.p13 chr2 219284784 219284784 + G G A Missense_Mutation SNP ENST00000336576.9 exon9 c.G772A p.A258T exonic ENSG00000135924.15 . nonsynonymous SNV ENSG00000135924.15:ENST00000336576.9:exon9:c.G772A:p.A258T 2q35 C3N-00852 . . . . . . . . . 13.20 D T D D N D M T N 0.785 T D D 0.394 0.638 0.704 0.829 T T D D D D 4.095 27.700 0.999 D D 0.665 6.654 0.675 7.303 1.000 0.706 0.702 0.710 0.714 . 4.830 4.830 8.310 1.176 0.676 1.000 0.998 0.998 310 Ubiquitin_interacting_motif . . . DNAJB2 110 0 94 10 0.0961538461538462 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149792 10149792 + A A - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.469delA p.T157Lfs*2 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.469delA:p.T157Lfs*2 3p25.3 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56565821;OCCURENCE=3(kidney) VHL 383 0 96 123 0.561643835616438 TRUE TRUE +ENSG00000093217.11 . BCM GRCh38.p13 chr3 38346913 38346913 + C C G Missense_Mutation SNP ENST00000207870.8 exon1 c.C45G p.F15L exonic ENSG00000093217.11 . nonsynonymous SNV ENSG00000093217.11:ENST00000207870.8:exon1:c.C45G:p.F15L 3p22.2 C3N-00852 . . . . . . . . . 6.20 T T B B D D N T N 0.462 T T D 0.235 0.616 0.088 0.110 D T T T T D 2.427 22.200 0.978 D N -0.734 0.756 -0.551 1.121 1.000 0.652 0.484 0.641 0.373 . 3.330 2.450 0.978 0.019 0.492 1.000 0.999 0.748 612 . . . . XYLB 49 0 15 17 0.53125 TRUE TRUE +ENSG00000163947.11 . BCM GRCh38.p13 chr3 56729392 56729392 + - NA CAT In_Frame_Ins INS ENST00000296315.7 exon10 c.1458_1459insATG p.M486_D487insM exonic ENSG00000163947.11 . nonframeshift insertion ENSG00000163947.11:ENST00000296315.7:exon10:c.1458_1459insATG:p.M486_D487insM 3p14.3 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGEF3 NA NA NA NA NA NA NA +ENSG00000144847.13 . BCM GRCh38.p13 chr3 118928713 118928713 + T T C Missense_Mutation SNP ENST00000393775.7 exon3 c.A220G p.I74V exonic ENSG00000144847.13 . nonsynonymous SNV ENSG00000144847.13:ENST00000393775.7:exon3:c.A220G:p.I74V 3q13.32 C3N-00852 . . . . . . . . . 9.20 D T D D D D M T N 0.458 T T T 0.210 0.613 0.691 0.468 T T T T D T 3.089 23.600 0.999 D D 0.581 5.731 0.563 5.793 0.997 0.554 0.574 0.618 0.564 . 4.660 4.660 5.695 1.138 0.665 1.000 1.000 0.995 735 Immunoglobulin_subtype_2;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IGSF11 74 0 82 14 0.145833333333333 TRUE TRUE +ENSG00000182923.17 . BCM GRCh38.p13 chr3 134561506 134561506 + A A G Missense_Mutation SNP ENST00000337090.7 exon14 c.A2083G p.T695A exonic ENSG00000182923.17 . nonsynonymous SNV ENSG00000182923.17:ENST00000337090.7:exon14:c.A2083G:p.T695A 3q22.2 C3N-00852 1.685e-05 9.745e-05 8.803e-05 0 0 0 0 0 rs752659947 11.20 D T D D D D M T D 0.396 T T T 0.189 0.112 0.765 0.223 T T T T D D 3.812 25.900 0.998 D D 0.703 7.168 0.718 8.112 1.000 0.732 0.744 0.659 0.728 . 6.160 6.160 5.752 1.312 0.756 1.000 1.000 0.997 910 . . . . CEP63 222 0 199 13 0.0613207547169811 TRUE NA +ENSG00000136527.18 . BCM GRCh38.p13 chr3 185921112 185921116 + TCTGC TCTGC - Frame_Shift_Del DEL ENST00000453386.7 exon6 c.710_714del p.S237Ifs*23 exonic ENSG00000136527.18 . frameshift deletion ENSG00000136527.18:ENST00000453386.7:exon6:c.710_714del:p.S237Ifs*23 3q27.2 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRA2B 173 0 92 71 0.43558282208589 TRUE TRUE +ENSG00000109680.11 . BCM GRCh38.p13 chr4 26718007 26718008 + AT AT - Frame_Shift_Del DEL ENST00000264866.9 exon14 c.1029_1030del p.Y344Hfs*38 exonic ENSG00000109680.11 . frameshift deletion ENSG00000109680.11:ENST00000264866.9:exon14:c.1029_1030del:p.Y344Hfs*38 4p15.2 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D19 105 0 47 12 0.203389830508475 TRUE TRUE +ENSG00000157426.14 . BCM GRCh38.p13 chr4 56349838 56349838 + A A - Frame_Shift_Del DEL ENST00000205214.11 exon11 c.1913delT p.F638Sfs*30 exonic ENSG00000157426.14 . frameshift deletion ENSG00000157426.14:ENST00000205214.11:exon11:c.1913delT:p.F638Sfs*30 4q12 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AASDH 153 0 95 22 0.188034188034188 TRUE TRUE +ENSG00000109205.16 . BCM GRCh38.p13 chr4 70196696 70196696 + T T G Missense_Mutation SNP ENST00000396094.6 exon2 c.T56G p.I19S exonic ENSG00000109205.16 . nonsynonymous SNV ENSG00000109205.16:ENST00000396094.6:exon2:c.T56G:p.I19S 4q13.3 C3N-00852 . . . . . . . . . 9.19 D D D P . D M T D 0.484 T T D 0.239 0.420 0.499 0.021 T T T T D T 3.075 23.600 0.993 D N 0.147 3.076 0.064 2.591 0.989 0.487 0.574 0.574 0.564 . 5.390 4.210 1.314 1.118 0.665 0.481 0.827 0.176 934 . . . . ODAM 125 0 84 14 0.142857142857143 TRUE TRUE +ENSG00000182578.13 . BCM GRCh38.p13 chr5 150080926 150080926 + A A G Missense_Mutation SNP ENST00000286301.7 exon3 c.T148C p.W50R exonic ENSG00000182578.13 . nonsynonymous SNV ENSG00000182578.13:ENST00000286301.7:exon3:c.T148C:p.W50R 5q32 C3N-00852 . . . . . . . . . 16.20 D D D D N D H T D 0.828 D D D 0.648 0.754 0.822 1.106 T D D D D T 3.626 25.100 0.994 D D 0.677 6.808 0.576 5.936 1.000 0.554 0.588 0.573 0.542 . 5.460 5.460 4.397 1.312 0.756 0.998 0.989 0.494 549 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . CSF1R 327 0 335 70 0.172839506172839 TRUE TRUE +ENSG00000124813.23 . BCM GRCh38.p13 chr6 45545255 45545255 + T T C Missense_Mutation SNP ENST00000647337.2 exon8 c.T1060C p.S354P exonic ENSG00000124813.23 . nonsynonymous SNV ENSG00000124813.23:ENST00000647337.2:exon8:c.T1060C:p.S354P 6p21.1 C3N-00852 . . . . . . . . . 10.20 T T P P N D N D N 0.511 D D D 0.477 0.203 0.901 0.879 T T D D D T 3.384 24.400 0.997 D D 0.115 2.946 0.227 3.317 1.000 0.497 0.590 0.547 0.530 . 4.810 4.810 1.926 1.138 0.665 1.000 1.000 1.000 892 . . . . RUNX2 101 0 88 12 0.12 TRUE TRUE +ENSG00000215018.10 . BCM GRCh38.p13 chr7 7373391 7373391 + T T G Missense_Mutation SNP ENST00000399429.8 exon32 c.A2515C p.I839L exonic ENSG00000215018.10 . nonsynonymous SNV ENSG00000215018.10:ENST00000399429.8:exon32:c.A2515C:p.I839L 7p21.3 C3N-00852 . . . . . . . . . 1.20 T T B B U N N T N 0.303 T T D 0.204 0.513 0.270 0.053 T T T T T T 0.960 11.120 0.587 N N -1.695 0.037 -1.698 0.051 0.554 0.554 0.574 0.618 0.564 . 4.440 -6.310 -0.003 -1.778 -1.463 0.905 0.432 0.504 846 von_Willebrand_factor,_type_A . . . COL28A1 268 0 144 109 0.430830039525692 TRUE TRUE +ENSG00000128573.26 . BCM GRCh38.p13 chr7 114653972 114653972 + A A T Missense_Mutation SNP ENST00000350908.9 exon10 c.A1229T p.H410L exonic ENSG00000128573.26 . nonsynonymous SNV ENSG00000128573.26:ENST00000350908.9:exon10:c.A1229T:p.H410L 7q31.1 C3N-00852 . . . . . . . . . 17.20 D D D D D D M T D 0.914 T T D 0.459 0.293 0.798 1.146 D D D D D D 4.103 27.800 0.980 D D 0.818 9.141 0.841 11.446 1.000 0.487 0.574 0.547 0.445 . 6.160 6.160 9.325 1.312 0.756 1.000 1.000 1.000 748 FOXP,_coiled-coil_domain . . . FOXP2 320 0 264 91 0.256338028169014 TRUE TRUE +ENSG00000081800.9 . BCM GRCh38.p13 chr7 123123143 123123143 + G G C Missense_Mutation SNP ENST00000194130.7 exon12 c.C1333G p.L445V exonic ENSG00000081800.9 . nonsynonymous SNV ENSG00000081800.9:ENST00000194130.7:exon12:c.C1333G:p.L445V 7q31.32 C3N-00852 . . . . . . . . . 11.20 D D D P D D M T D 0.683 T T D 0.308 0.741 0.340 0.423 T T T T D T 3.426 24.500 0.998 D D 0.602 5.946 0.538 5.525 0.751 0.500 0.624 0.574 0.564 . 5.770 3.840 2.418 0.207 0.618 1.000 1.000 0.995 567 . . . . SLC13A1 158 0 136 26 0.160493827160494 TRUE TRUE +ENSG00000165125.21 . BCM GRCh38.p13 chr7 142871981 142871981 + T T A Missense_Mutation SNP ENST00000359396.8 exon15 c.A2024T p.D675V exonic ENSG00000165125.21 . nonsynonymous SNV ENSG00000165125.21:ENST00000359396.8:exon15:c.A2024T:p.D675V 7q34 C3N-00852 . . . . . . . . . 10.14 . D . . D D . . . 0.561 T D D 0.504 . 0.494 0.525 T D D T D T 3.917 26.400 0.987 D D 0.118 2.956 0.234 3.354 1.000 0.554 0.547 0.602 0.613 . 5.550 5.550 2.682 1.138 0.665 1.000 0.988 0.886 710 . . . . TRPV6 38 0 18 12 0.4 TRUE TRUE +ENSG00000198010.12 . BCM GRCh38.p13 chr8 1632974 1632974 + T T A Missense_Mutation SNP ENST00000421627.7 exon8 c.T1735A p.Y579N exonic ENSG00000198010.12 . nonsynonymous SNV ENSG00000198010.12:ENST00000421627.7:exon8:c.T1735A:p.Y579N 8p23.3 C3N-00852 . . . . . . . . . 14.17 . D D P D D M . . 0.847 D D D 0.835 0.462 0.719 0.614 T T D D D D 4.070 27.500 0.992 D D 0.722 7.440 0.686 7.503 1.000 0.487 0.574 0.547 0.613 . 5.060 5.060 7.588 1.085 0.665 1.000 0.835 0.820 952 . . . . DLGAP2 227 0 138 60 0.303030303030303 TRUE TRUE +ENSG00000173281.5 . BCM GRCh38.p13 chr8 9141176 9141176 + G G C Missense_Mutation SNP ENST00000310455.4 exon2 c.C476G p.T159S exonic ENSG00000173281.5 . nonsynonymous SNV ENSG00000173281.5:ENST00000310455.4:exon2:c.C476G:p.T159S 8p23.1 C3N-00852 . . . . . . . . . 0.19 T T B B N N N T N 0.062 T T T 0.058 0.405 0.339 0.039 T T T T T . -0.951 0.010 0.721 N N -1.691 0.038 -1.631 0.067 1.000 0.722 0.588 0.702 0.735 . 5.870 -8.250 -0.677 -0.568 -0.227 0.000 0.411 0.980 937 CBM21_(carbohydrate_binding_type-21)_domain . . . PPP1R3B 314 0 169 58 0.255506607929515 TRUE TRUE +ENSG00000070718.12 . BCM GRCh38.p13 chr8 42165511 42165511 + C C T Missense_Mutation SNP ENST00000396926.8 exon6 c.C754T p.P252S exonic ENSG00000070718.12 . nonsynonymous SNV ENSG00000070718.12:ENST00000396926.8:exon6:c.C754T:p.P252S 8p11.21 C3N-00852 . . . . . . . . . 19.20 D D D D D D H T D 0.956 D D D 0.756 0.924 0.930 1.247 D D D D D D 3.793 25.800 0.999 D D 1.065 16.099 0.978 17.537 1.000 0.732 0.725 0.744 0.714 . 5.830 5.830 7.568 1.026 0.599 1.000 0.995 0.877 433 Clathrin_adaptor,_mu_subunit,_conserved_site;Mu_homology_domain . . ID=COSV51530271;OCCURENCE=1(skin) AP3M2 169 0 117 49 0.295180722891566 TRUE TRUE +ENSG00000104419.16 . BCM GRCh38.p13 chr8 133250536 133250536 + A A G Missense_Mutation SNP ENST00000323851.13 exon10 c.T602C p.M201T exonic ENSG00000104419.16 . nonsynonymous SNV ENSG00000104419.16:ENST00000323851.13:exon10:c.T602C:p.M201T 8q24.22 C3N-00852 . . . . . . . . rs980031699 5.20 T D B B D D N T N 0.515 T T T 0.114 0.572 0.655 0.361 T T T T T T 3.134 23.700 0.871 D D -0.172 1.955 0.022 2.436 1.000 0.707 0.693 0.602 0.714 . 5.760 5.760 8.672 1.312 0.756 1.000 0.970 0.911 897 . . . . NDRG1 337 0 221 93 0.296178343949045 TRUE NA +ENSG00000147872.10 . BCM GRCh38.p13 chr9 19121026 19121026 + T T C Missense_Mutation SNP ENST00000276914.7 exon5 c.A449G p.E150G exonic ENSG00000147872.10 . nonsynonymous SNV ENSG00000147872.10:ENST00000276914.7:exon5:c.A449G:p.E150G 9p22.1 C3N-00852 . . . . . . . . . 12.20 D D D D N D M T D 0.595 T T D 0.278 0.730 0.506 0.083 T T T T D D 4.472 32 0.999 D D 0.316 3.864 0.299 3.714 1.000 0.722 0.698 0.702 0.735 . 4.880 3.730 7.808 1.132 0.661 1.000 0.999 0.975 664 . . . . PLIN2 356 0 216 37 0.146245059288538 TRUE TRUE +ENSG00000060339.14 . BCM GRCh38.p13 chr10 68761170 68761170 + G G C Missense_Mutation SNP ENST00000265872.11 exon16 c.G2084C p.R695T exonic ENSG00000060339.14 . nonsynonymous SNV ENSG00000060339.14:ENST00000265872.11:exon16:c.G2084C:p.R695T 10q21.3 C3N-00852 . . . . . . . . . 4.20 T T D P N N L T N 0.486 T T T 0.155 0.253 0.411 1.131 T T T T D T 2.899 23.200 0.872 D D 0.237 3.469 0.349 4.013 0.997 0.732 0.744 0.744 0.714 . 5.620 4.700 7.094 0.226 0.656 1.000 1.000 1.000 778 . . . . CCAR1 53 0 33 10 0.232558139534884 TRUE TRUE +ENSG00000198825.15 . BCM GRCh38.p13 chr10 119806391 119806391 + G G T Nonsense_Mutation SNP ENST00000650623.2 exon12 c.G1351T p.E451X exonic ENSG00000198825.15 . stopgain ENSG00000198825.15:ENST00000650623.2:exon12:c.G1351T:p.E451X 10q26.11 C3N-00852 . . . . . . . . . 5.6 . . . . D A . . . 0.502 . . . . . . . . . D D . . 7.864 39 0.998 D N 0.961 12.747 0.846 11.622 1.000 0.706 0.709 0.710 0.632 . 5.500 5.500 7.848 1.176 0.676 1.000 1.000 0.992 533 SAC_domain . . . INPP5F 117 0 79 29 0.268518518518519 TRUE TRUE +ENSG00000149260.18 . BCM GRCh38.p13 chr11 77122663 77122663 + T T A Missense_Mutation SNP ENST00000648180.1 exon12 c.T1691A p.V564E exonic ENSG00000149260.18 . nonsynonymous SNV ENSG00000149260.18:ENST00000648180.1:exon12:c.T1691A:p.V564E 11q13.5 C3N-00852 . . . . . . . . . 5.20 T T B B N D N T N 0.799 T T D 0.242 0.656 0.695 0.515 T T T T D T 2.171 20.600 0.979 D D -0.326 1.551 -0.228 1.721 0.952 0.706 0.588 0.710 0.714 . 4.790 4.790 2.588 1.137 0.665 0.975 0.296 0.221 547 C2_domain;Calpain_C2_domain . . . CAPN5 171 0 172 19 0.0994764397905759 TRUE TRUE +ENSG00000185652.12 . BCM GRCh38.p13 chr12 5494984 5494984 + C C - Frame_Shift_Del DEL ENST00000331010.7 exon1 c.770delC p.T257Nfs*14 exonic ENSG00000185652.12 . frameshift deletion ENSG00000185652.12:ENST00000331010.7:exon1:c.770delC:p.T257Nfs*14 12p13.31 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NTF3 168 0 158 46 0.225490196078431 TRUE TRUE +ENSG00000076555.15 . BCM GRCh38.p13 chr12 109253146 109253146 + - NA T Frame_Shift_Ins INS ENST00000338432.11 exon43 c.6034dupT p.Y2012Lfs*6 exonic ENSG00000076555.15 . frameshift insertion ENSG00000076555.15:ENST00000338432.11:exon43:c.6034dupT:p.Y2012Lfs*6 12q24.11 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACACB NA NA NA NA NA NA NA +ENSG00000198718.13 . BCM GRCh38.p13 chr14 45071716 45071719 + TTAC TTAC - Frame_Shift_Del DEL ENST00000361577.7 exon18 c.4815_4818del p.L1607Ffs*12 exonic ENSG00000198718.13 . frameshift deletion ENSG00000198718.13:ENST00000361577.7:exon18:c.4815_4818del:p.L1607Ffs*12 14q21.2 C3N-00852 1.653e-05 9.654e-05 0 0 0 1.504e-05 0 0 rs749059577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOGARAM1 86 0 36 24 0.4 TRUE NA +ENSG00000100632.11 . BCM GRCh38.p13 chr14 69380621 69380621 + T T G Missense_Mutation SNP ENST00000557016.6 exon4 c.A232C p.T78P exonic ENSG00000100632.11 . nonsynonymous SNV ENSG00000100632.11:ENST00000557016.6:exon4:c.A232C:p.T78P 14q24.1 C3N-00852 . . . . . . . . . 16.19 D D P P D D M . D 0.588 D D D 0.477 0.592 0.817 3.328 D T D D D D 4.144 28.100 0.996 D D 0.675 6.781 0.685 7.486 1.000 0.707 0.702 0.702 0.714 . 5.830 5.830 6.179 1.134 0.599 1.000 1.000 0.999 778 . . . . ERH 122 0 72 18 0.2 TRUE TRUE +ENSG00000166813.15 . BCM GRCh38.p13 chr15 89648293 89648293 + C C T Missense_Mutation SNP ENST00000394412.8 exon5 c.G1405A p.V469I exonic ENSG00000166813.15 . nonsynonymous SNV ENSG00000166813.15:ENST00000394412.8:exon5:c.G1405A:p.V469I 15q26.1 C3N-00852 . . . . . . . . . 2.20 T T B B U N N T N 0.052 T T D 0.077 0.072 0.507 0.018 T T T T T D 0.257 3.783 0.908 N N -0.941 0.470 -0.918 0.596 0.999 0.696 0.547 0.692 0.605 . 4.390 2.480 0.694 1.011 0.580 0.002 0.062 0.089 843 . . . . KIF7 167 0 123 43 0.259036144578313 TRUE TRUE +ENSG00000167981.7 . BCM GRCh38.p13 chr16 3437317 3437317 + G G C Missense_Mutation SNP ENST00000301744.7 exon4 c.C382G p.P128A exonic ENSG00000167981.7 . nonsynonymous SNV ENSG00000167981.7:ENST00000301744.7:exon4:c.C382G:p.P128A 16p13.3 C3N-00852 . . . . . . . . . 5.20 T D D P D N M T N 0.191 T T T 0.143 0.498 0.202 0.290 T T T T D T 2.666 22.800 0.988 N N 0.189 3.257 0.103 2.745 0.038 0.554 0.602 0.602 0.492 . 4.910 4.910 0.026 1.176 0.676 0.000 0.992 0.978 666 . . . . ZNF597 129 0 118 41 0.257861635220126 TRUE TRUE +ENSG00000077238.14 . BCM GRCh38.p13 chr16 27363264 27363264 + A A T Missense_Mutation SNP ENST00000395762.7 exon11 c.A1912T p.I638F exonic ENSG00000077238.14 . nonsynonymous SNV ENSG00000077238.14:ENST00000395762.7:exon11:c.A1912T:p.I638F 16p12.1 C3N-00852 . . . . . . . . . 1.20 T D B B U N N T N 0.103 T T T 0.010 0.301 0.055 0.207 T T T T T T -0.898 0.014 0.345 N N -1.851 0.019 -1.993 0.014 1.000 0.732 0.702 0.744 0.714 . 4.980 -9.960 -3.295 -1.628 -1.191 0.000 0.001 0.016 906 . . . . IL4R 40 0 42 14 0.25 TRUE TRUE +ENSG00000168488.18 . BCM GRCh38.p13 chr16 28826390 28826390 + G G C Missense_Mutation SNP ENST00000336783.8 exon5 c.G616C p.D206H exonic ENSG00000168488.18 . nonsynonymous SNV ENSG00000168488.18:ENST00000336783.8:exon5:c.G616C:p.D206H 16p11.2 C3N-00852 . . . . . . . . . 17.20 D D D D D D M T D 0.848 T T D 0.631 0.409 0.758 1.552 D D D D D D 6.149 35 0.996 D D 0.917 11.493 0.886 13.184 1.000 0.722 0.672 0.696 0.735 . 5.770 5.770 9.785 1.176 0.676 1.000 0.994 0.935 331 . . . . ATXN2L 71 0 63 24 0.275862068965517 TRUE TRUE +ENSG00000102921.8 . BCM GRCh38.p13 chr16 48542967 48542967 + C C A Missense_Mutation SNP ENST00000262384.4 exon7 c.G2628T p.Q876H exonic ENSG00000102921.8 . nonsynonymous SNV ENSG00000102921.8:ENST00000262384.4:exon7:c.G2628T:p.Q876H 16q12.1 C3N-00852 . . . . . . . . . 4.20 T T P B N D M T N 0.212 T T T 0.066 0.249 0.597 0.123 T T T T D T 2.626 22.700 0.986 D N 0.331 3.945 0.403 4.378 0.999 0.707 0.702 0.725 0.714 . 5.390 5.390 2.476 1.026 0.549 1.000 0.994 0.989 719 . . . . N4BP1 118 0 92 72 0.439024390243902 TRUE TRUE +ENSG00000169992.10 . BCM GRCh38.p13 chr17 7414437 7414437 + T T A Missense_Mutation SNP ENST00000302926.7 exon3 c.T602A p.L201Q exonic ENSG00000169992.10 . nonsynonymous SNV ENSG00000169992.10:ENST00000302926.7:exon3:c.T602A:p.L201Q 17p13.1 C3N-00852 . . . . . . . . . 18.19 D D D D D D M T D 0.947 D D D 0.819 0.873 0.946 2.373 D D D D D . 4.145 28.100 0.996 D D 0.948 12.353 0.815 10.596 1.000 0.696 0.844 0.723 0.563 . 4.870 4.870 8.011 1.138 0.665 1.000 1.000 0.994 226 Carboxylesterase,_type_B . . . NLGN2 153 0 131 17 0.114864864864865 TRUE TRUE +ENSG00000179477.11 . BCM GRCh38.p13 chr17 8076266 8076266 + G G A Missense_Mutation SNP ENST00000647874.1 exon11 c.C1441T p.L481F exonic ENSG00000179477.11 . nonsynonymous SNV ENSG00000179477.11:ENST00000647874.1:exon11:c.C1441T:p.L481F 17p13.1 C3N-00852 . . . . . . . . . 6.20 D T B B N N L T D 0.191 T T D 0.342 0.733 0.775 0.584 T D T T D T 2.233 21.100 0.996 D N -0.236 1.778 -0.209 1.765 0.016 0.549 0.590 0.590 0.530 . 5.200 0.495 0.292 -0.226 -0.244 0.996 0.978 0.995 354 Lipoxygenase,_C-terminal . . . ALOX12B 279 1 261 30 0.103092783505155 TRUE TRUE +ENSG00000177731.16 . BCM GRCh38.p13 chr17 18248693 18248693 + C C A Nonsense_Mutation SNP ENST00000327031.9 exon18 c.G2047T p.E683X exonic ENSG00000177731.16 . stopgain ENSG00000177731.16:ENST00000327031.9:exon18:c.G2047T:p.E683X 17p11.2 C3N-00852 . . . . . . . . . 5.6 . . . . D D . . . 0.946 . . . . . . . . . D D . . 7.563 38 0.998 D N 1.163 20.827 1.024 20.364 1.000 0.672 0.702 0.607 0.617 . 5.540 5.540 7.674 0.067 0.581 1.000 0.945 0.998 202 Gelsolin-like_domain . . . FLII 154 0 78 43 0.355371900826446 TRUE TRUE +ENSG00000033627.16 . BCM GRCh38.p13 chr17 42480696 42480705 + CATTTTCTTC CATTTTCTTC - Frame_Shift_Del DEL ENST00000343619.8 exon8 c.663_672del p.I222Kfs*5 exonic ENSG00000033627.16 . frameshift deletion ENSG00000033627.16:ENST00000343619.8:exon8:c.663_672del:p.I222Kfs*5 17q21.2 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP6V0A1 124 0 78 19 0.195876288659794 TRUE TRUE +ENSG00000188269.9 . BCM GRCh38.p13 chr19 14827752 14827752 + C C T Missense_Mutation SNP ENST00000322301.4 exon2 c.G490A p.V164I exonic ENSG00000188269.9 . nonsynonymous SNV ENSG00000188269.9:ENST00000322301.4:exon2:c.G490A:p.V164I 19p13.12 C3N-00852 . . . . . . . . . 2.20 D D B B U N N T N 0.029 T T T 0.017 0.588 0.124 0.047 T T T T T T 0.067 1.814 0.734 N N -1.813 0.022 -1.898 0.022 0.014 0.487 0.574 0.547 0.564 . 2.980 -5.970 -3.857 -1.654 -1.815 0.000 0.000 0.000 976 GPCR,_rhodopsin-like,_7TM . . . OR7A5 263 0 175 61 0.258474576271186 TRUE TRUE +ENSG00000179954.16 . BCM GRCh38.p13 chr19 55493778 55493778 + G G A Missense_Mutation SNP ENST00000389623.11 exon7 c.G1079A p.G360E exonic ENSG00000179954.16 . nonsynonymous SNV ENSG00000179954.16:ENST00000389623.11:exon7:c.G1079A:p.G360E 19q13.42 C3N-00852 . . . . . . . . . 17.20 D D D D N D M T D 0.752 D D D 0.660 0.734 0.780 0.113 D T D D D D 3.605 25.100 0.998 D D 0.680 6.849 0.584 6.030 1.000 0.554 0.588 0.576 0.563 . 4.460 4.460 7.720 1.172 0.606 1.000 0.096 0.002 964 SRCR_domain;SRCR-like_domain . . . SSC5D 101 0 54 54 0.5 TRUE TRUE +ENSG00000100395.15 . BCM GRCh38.p13 chr22 41226701 41226701 + A A G Missense_Mutation SNP ENST00000216237.10 exon13 c.A1544G p.E515G exonic ENSG00000100395.15 . nonsynonymous SNV ENSG00000100395.15:ENST00000216237.10:exon13:c.A1544G:p.E515G 22q13.2 C3N-00852 3.297e-05 0 0 0 0 0 0 0.0002 rs569908148 6.20 T T B B D D M T N 0.485 T T T 0.109 0.410 0.594 0.441 T T T T T D 3.723 25.500 0.998 D D 0.293 3.745 0.382 4.233 0.999 0.732 0.725 0.744 0.714 . 4.950 4.950 5.044 1.298 0.740 1.000 1.000 0.997 161 . . . . L3MBTL2 226 0 120 106 0.469026548672566 TRUE NA +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53210710 53210710 + C C A Missense_Mutation SNP ENST00000375401.8 exon11 c.G1549T p.D517Y exonic ENSG00000126012.12 . nonsynonymous SNV ENSG00000126012.12:ENST00000375401.8:exon11:c.G1549T:p.D517Y Xp11.22 C3N-00852 . . . . . . . . . 18.19 D D D D D D H T D 0.949 D D D 0.923 0.866 0.975 2.893 D D D D D D 3.971 26.800 0.996 D . . . . . 1.000 . . . . . 5.210 5.210 7.905 1.026 0.599 1.000 1.000 0.998 79 JmjC_domain . . . KDM5C 174 0 48 140 0.74468085106383 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52628893 52628893 + C C - Splice_Site SNP NA NA NA NA splicing ENSG00000163939.18 ENST00000296302.11:exon12:c.1443+1G>- . . 3p21.1 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 343 0 92 141 0.605150214592275 TRUE TRUE +ENSG00000141576.16 . BCM GRCh38.p13 chr17 76167798 76167798 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000141576.16 ENST00000269391.11:exon4:c.297-1G>T . . 17q25.1 C3N-00852 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.714 34 0.995 D . 1.108 17.880 0.940 15.586 1.000 0.165 0.196 0.084 0.059 0.984 4.980 4.980 7.715 1.026 0.599 1.000 0.996 0.919 929 . . . . RNF157 96 0 77 31 0.287037037037037 TRUE TRUE +ENSG00000081026.19 . BCM GRCh38.p13 chr1 113673346 113673346 + C C T Silent SNP ENST00000307546.14 exon19 c.C3070T p.L1024L exonic ENSG00000081026.19 . synonymous SNV ENSG00000081026.19:ENST00000307546.14:exon19:c.C3070T:p.L1024L 1p13.2 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGI3 137 0 83 61 0.423611111111111 TRUE TRUE +ENSG00000123607.15 . BCM GRCh38.p13 chr2 165899833 165899833 + A A G Silent SNP ENST00000243344.8 exon21 c.T2805C p.D935D exonic ENSG00000123607.15 . synonymous SNV ENSG00000123607.15:ENST00000243344.8:exon21:c.T2805C:p.D935D 2q24.3 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC21B 419 0 304 105 0.256723716381418 TRUE TRUE +ENSG00000163069.13 . BCM GRCh38.p13 chr4 52024044 52024044 + A A G Silent SNP ENST00000381431.10 exon6 c.T870C p.C290C exonic ENSG00000163069.13 . synonymous SNV ENSG00000163069.13:ENST00000381431.10:exon6:c.T870C:p.C290C 4q12 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SGCB 314 0 109 86 0.441025641025641 TRUE TRUE +ENSG00000164659.15 . BCM GRCh38.p13 chr7 86926818 86926818 + C C T Silent SNP ENST00000450689.7 exon9 c.G1188A p.P396P exonic ENSG00000164659.15 . synonymous SNV ENSG00000164659.15:ENST00000450689.7:exon9:c.G1188A:p.P396P 7q21.12 C3N-00852 8.26e-06 0 0 0 0 0 0 6.061e-05 rs751388859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1324L 82 0 99 14 0.123893805309735 TRUE NA +ENSG00000138347.15 . BCM GRCh38.p13 chr10 68122152 68122152 + G G A Silent SNP ENST00000358913.9 exon2 c.G714A p.A238A exonic ENSG00000138347.15 . synonymous SNV ENSG00000138347.15:ENST00000358913.9:exon2:c.G714A:p.A238A 10q21.3 C3N-00852 8.281e-06 0 8.643e-05 0 0 0 0 0 rs757661676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYPN 63 0 31 17 0.354166666666667 TRUE NA +ENSG00000161328.11 . BCM GRCh38.p13 chr11 551292 551292 + T T C Silent SNP ENST00000270115.8 exon9 c.T786C p.L262L exonic ENSG00000161328.11 . synonymous SNV ENSG00000161328.11:ENST00000270115.8:exon9:c.T786C:p.L262L 11p15.5 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC56 46 0 36 3 0.0769230769230769 TRUE NA +ENSG00000250510.8 . BCM GRCh38.p13 chr12 6824528 6824528 + C C A Silent SNP ENST00000311268.8 exon2 c.C630A p.P210P exonic ENSG00000250510.8 . synonymous SNV ENSG00000250510.8:ENST00000311268.8:exon2:c.C630A:p.P210P 12p13.31 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR162 90 1 76 53 0.410852713178295 TRUE TRUE +ENSG00000179912.20 . BCM GRCh38.p13 chr12 57280403 57280403 + G G T Silent SNP ENST00000347140.7 exon14 c.C1257A p.P419P exonic ENSG00000179912.20 . synonymous SNV ENSG00000179912.20:ENST00000347140.7:exon14:c.C1257A:p.P419P 12q13.3 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . R3HDM2 95 0 58 42 0.42 TRUE TRUE +ENSG00000130177.16 . BCM GRCh38.p13 chr13 114265162 114265162 + A A C Silent SNP ENST00000356221.8 exon17 c.A1525C p.R509R exonic ENSG00000130177.16 . synonymous SNV ENSG00000130177.16:ENST00000356221.8:exon17:c.A1525C:p.R509R 13q34 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDC16 133 0 91 48 0.345323741007194 TRUE TRUE +ENSG00000166851.15 . BCM GRCh38.p13 chr16 23684031 23684031 + G G T Silent SNP ENST00000300093.9 exon5 c.G978T p.S326S exonic ENSG00000166851.15 . synonymous SNV ENSG00000166851.15:ENST00000300093.9:exon5:c.G978T:p.S326S 16p12.2 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLK1 314 0 323 47 0.127027027027027 TRUE TRUE +ENSG00000040633.13 . BCM GRCh38.p13 chr17 7235997 7235997 + T T C Silent SNP ENST00000320316.8 exon4 c.A930G p.Q310Q exonic ENSG00000040633.13 . synonymous SNV ENSG00000040633.13:ENST00000320316.8:exon4:c.A930G:p.Q310Q 17p13.1 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHF23 91 0 51 33 0.392857142857143 TRUE TRUE +ENSG00000160551.11 . BCM GRCh38.p13 chr17 29478312 29478312 + A A G Silent SNP ENST00000261716.7 exon6 c.A414G p.G138G exonic ENSG00000160551.11 . synonymous SNV ENSG00000160551.11:ENST00000261716.7:exon6:c.A414G:p.G138G 17q11.2 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAOK1 94 0 69 42 0.378378378378378 TRUE TRUE +ENSG00000076650.7 . BCM GRCh38.p13 chr19 33081229 33081229 + G G C Silent SNP ENST00000170564.7 exon1 c.G36C p.L12L exonic ENSG00000076650.7 . synonymous SNV ENSG00000076650.7:ENST00000170564.7:exon1:c.G36C:p.L12L 19q13.11 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPATCH1 227 0 192 19 0.0900473933649289 TRUE TRUE +ENSG00000171940.13 . BCM GRCh38.p13 chr20 53582035 53582035 + G G A Silent SNP ENST00000371471.6 exon2 c.C792T p.D264D exonic ENSG00000171940.13 . synonymous SNV ENSG00000171940.13:ENST00000371471.6:exon2:c.C792T:p.D264D 20q13.2 C3N-00852 8.239e-06 9.625e-05 0 0 0 0 0 0 rs563819509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF217 165 0 172 19 0.0994764397905759 TRUE NA +ENSG00000117676.14 . BCM GRCh38.p13 chr1 26545939 26545939 + G G C Intron SNP NA NA NA NA intronic ENSG00000117676.14 . . . 1p36.11 C3N-00852 . . . . . . . . . 5.17 D T B B N D . T N 0.407 T T T 0.060 0.288 0.614 0.945 T . T T D . 3.587 25.000 0.969 D D -0.037 2.381 0.142 2.913 1.000 0.442 0.522 0.600 0.613 . 4.900 4.900 2.674 1.176 0.676 1.000 1.000 1.000 364 . . . . RPS6KA1 135 0 77 42 0.352941176470588 TRUE TRUE +ENSG00000204084.13 . BCM GRCh38.p13 chr1 37931660 37931660 + C C T Intron SNP NA NA NA NA intronic ENSG00000204084.13 . . . 1p34.3 C3N-00852 . . . . . . . . . 2.16 D D B B . N . T N 0.185 T T T 0.055 0.161 0.212 . . . T T T T 1.365 14.840 0.995 N N -0.812 0.637 -0.868 0.664 1.000 0.442 0.522 0.240 0.562 . 4.540 -0.891 -0.251 0.088 0.599 0.000 0.213 0.873 701 . . . . INPP5B 180 0 73 70 0.48951048951049 TRUE TRUE +ENSG00000243753.5 . BCM GRCh38.p13 chr6 30263356 30263356 + G G C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000243753.5;ENSG00000270604.5 . . . 6p22.1 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLA-L 130 0 90 6 0.0625 TRUE NA +ENSG00000111361.13 . BCM GRCh38.p13 chr12 123626874 123626874 + C C T Intron SNP NA NA NA NA intronic ENSG00000111361.13 . . . 12q24.31 C3N-00852 . . . . . . . . . 1.12 D . . . . N . . N 0.115 T T T 0.096 0.433 0.132 . . . T T T T 0.215 3.298 0.511 N N -0.915 0.502 -1.024 0.460 0.714 0.563 0.577 0.609 0.509 . 3.770 -0.876 -0.072 -0.024 0.599 0.000 0.039 0.012 341 . . . . EIF2B1 100 0 74 46 0.383333333333333 TRUE TRUE +ENSG00000154118.13 . BCM GRCh38.p13 chr16 87701797 87701797 + - NA C IGR SNP NA NA NA NA intergenic ENSG00000154118.13;ENSG00000104731.14 dist=3641;dist=6015 . . 16q24.2 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JPH3 NA NA NA NA NA NA NA +ENSG00000167895.15 . BCM GRCh38.p13 chr17 78138812 78138812 + C C T Intron SNP NA NA NA NA intronic ENSG00000167895.15 . . . 17q25.3 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMC8 145 0 134 28 0.172839506172839 TRUE NA +ENSG00000264000.1 . BCM GRCh38.p13 chr18 5630404 5630404 + C C A IGR SNP NA NA NA NA intergenic ENSG00000264000.1;ENSG00000261738.7 dist=59462;dist=91450 . . 18p11.31 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP005059.1 315 1 127 74 0.368159203980099 TRUE NA +ENSG00000089091.16 . BCM GRCh38.p13 chr20 18451866 18451866 + C C A Intron SNP NA NA NA NA intronic ENSG00000089091.16 . . . 20p11.23 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DZANK1 57 0 46 38 0.452380952380952 TRUE NA +ENSG00000183242.11 . BCM GRCh38.p13 chr11 32439083 32439084 + CT CT TA Unknown MNP NA NA NA NA ncRNA_exonic ENSG00000183242.11 . . . 11p13 C3N-00852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WT1-AS 101 0 50 57 0.532710280373832 TRUE NA +ENSG00000132768.14 . BCM GRCh38.p13 chr1 43971825 43971825 + A A - Frame_Shift_Del DEL ENST00000255108.8 exon4 c.923delA p.Q308Rfs*32 exonic ENSG00000132768.14 . frameshift deletion ENSG00000132768.14:ENST00000255108.8:exon4:c.923delA:p.Q308Rfs*32 1p34.1 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPH2 178 0 109 20 0.155038759689922 TRUE TRUE +ENSG00000123091.5 . BCM GRCh38.p13 chr1 51270047 51270047 + A A C Missense_Mutation SNP ENST00000242719.4 exon2 c.A215C p.Q72P exonic ENSG00000123091.5 . nonsynonymous SNV ENSG00000123091.5:ENST00000242719.4:exon2:c.A215C:p.Q72P 1p32.3 C3N-00953 . . . . . . . . . 10.20 D D P B D D L T D 0.756 T T T 0.253 0.470 0.448 1.107 D T D T D T 2.730 22.900 0.995 D D 0.456 4.710 0.570 5.873 1.000 0.732 0.744 0.710 0.728 . 5.920 5.920 8.876 1.233 0.665 1.000 1.000 0.999 382 . . . . RNF11 358 0 216 43 0.166023166023166 TRUE TRUE +ENSG00000175497.17 . BCM GRCh38.p13 chr2 115309261 115309262 + CA CA - Frame_Shift_Del DEL ENST00000410059.6 exon2 c.83_84del p.Q29Efs*31 exonic ENSG00000175497.17 . frameshift deletion ENSG00000175497.17:ENST00000410059.6:exon2:c.83_84del:p.Q29Efs*31 2q14.1 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPP10 249 0 150 20 0.117647058823529 TRUE NA +ENSG00000175497.17 . BCM GRCh38.p13 chr2 115309264 115309264 + A A T Missense_Mutation SNP ENST00000410059.6 exon2 c.A86T p.Q29L exonic ENSG00000175497.17 . nonsynonymous SNV ENSG00000175497.17:ENST00000410059.6:exon2:c.A86T:p.Q29L 2q14.1 C3N-00953 . . . . . . . . . 14.20 D D D D D D L T D 0.766 T T D 0.404 0.326 0.428 0.561 D T D T D D 3.799 25.800 0.996 D D 0.848 9.788 0.824 10.872 0.998 0.638 0.574 0.653 0.564 . 5.600 5.600 8.723 1.312 0.756 1.000 1.000 1.000 924 . . . . DPP10 263 0 167 23 0.121052631578947 NA TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146519 10146519 + - NA T Frame_Shift_Ins INS ENST00000256474.3 exon2 c.347dupT p.W117Lfs*15 exonic ENSG00000134086.8 . frameshift insertion ENSG00000134086.8:ENST00000256474.3:exon2:c.347dupT:p.W117Lfs*15 3p25.3 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL NA NA NA NA NA NA NA +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52405217 52405217 + T T A Nonsense_Mutation SNP ENST00000460680.6 exon11 c.A1009T p.K337X exonic ENSG00000163930.10 . stopgain ENSG00000163930.10:ENST00000460680.6:exon11:c.A1009T:p.K337X 3p21.1 C3N-00953 . . . . . . . . . 5.6 . . . . D A . . . 0.982 . . . . . . . . . D D . . 7.649 39 0.996 D N 0.841 9.636 0.723 8.211 1.000 0.707 0.698 0.725 0.714 . 5.480 5.480 4.350 1.138 0.665 1.000 1.000 0.995 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . . BAP1 246 0 132 42 0.241379310344828 TRUE TRUE +ENSG00000173230.15 . BCM GRCh38.p13 chr3 121698802 121698802 + G G A Missense_Mutation SNP ENST00000340645.9 exon13 c.C1706T p.A569V exonic ENSG00000173230.15 . nonsynonymous SNV ENSG00000173230.15:ENST00000340645.9:exon13:c.C1706T:p.A569V 3q13.33 C3N-00953 . . . . . . . . . 9.20 D T D D D N M T N 0.425 T T T 0.168 0.192 0.615 0.510 T T T T D D 3.879 26.200 0.997 D D 0.531 5.286 0.598 6.194 0.993 0.707 0.725 0.659 0.714 . 5.430 5.430 7.308 1.176 0.676 1.000 1.000 0.999 398 . . . . GOLGB1 120 0 75 7 0.0853658536585366 TRUE TRUE +ENSG00000249158.7 . BCM GRCh38.p13 chr5 140869306 140869306 + C C A Missense_Mutation SNP ENST00000398640.7 exon1 c.C203A p.S68Y exonic ENSG00000249158.7 . nonsynonymous SNV ENSG00000249158.7:ENST00000398640.7:exon1:c.C203A:p.S68Y 5q31.3 C3N-00953 . . . . . . . . . 10.18 D D D D . D M T D 0.588 T T D 0.368 0.729 0.797 1.076 . T T T D D 3.262 24.000 0.992 N N 0.612 6.048 0.501 5.167 1.000 0.534 0.547 0.522 0.639 . 5.590 5.590 1.891 0.947 0.599 0.004 0.973 0.824 46 Cadherin-like;Cadherin,_N-terminal . . ID=COSV56484777;OCCURENCE=2(thyroid) PCDHA11 771 0 561 100 0.151285930408472 NA TRUE +ENSG00000204655.12 . BCM GRCh38.p13 chr6 29670719 29670719 + T T A Missense_Mutation SNP ENST00000376917.8 exon7 c.T728A p.L243Q exonic ENSG00000204655.12 . nonsynonymous SNV ENSG00000204655.12:ENST00000376917.8:exon7:c.T728A:p.L243Q 6p22.1 C3N-00953 . . . . . . . . . 11.20 D D D D N D L T D 0.770 T T D 0.228 0.396 0.634 0.247 T T D D D T 4.582 32 0.994 D N 0.500 5.038 0.515 5.299 1.000 0.421 0.563 0.537 0.530 . 5.190 5.190 3.347 1.049 0.665 1.000 1.000 0.995 856 . . . . MOG 443 0 284 58 0.169590643274854 TRUE TRUE +ENSG00000128585.18 . BCM GRCh38.p13 chr7 131429047 131429047 + T T A Missense_Mutation SNP ENST00000352689.11 exon9 c.T862A p.F288I exonic ENSG00000128585.18 . nonsynonymous SNV ENSG00000128585.18:ENST00000352689.11:exon9:c.T862A:p.F288I 7q32.3 C3N-00953 . . . . . . . . . 14.20 D T P P D D M T D 0.917 T T D 0.580 0.566 0.456 1.517 D D D D D D 3.660 25.300 0.988 D D 0.752 7.915 0.766 9.199 1.000 0.732 0.744 0.725 0.714 . 6.020 6.020 7.842 1.138 0.665 1.000 1.000 0.998 856 . . . . MKLN1 166 0 82 28 0.254545454545455 TRUE TRUE +ENSG00000150275.18 . BCM GRCh38.p13 chr10 54527870 54527870 + T T A Missense_Mutation SNP ENST00000320301.10 exon3 c.A99T p.K33N exonic ENSG00000150275.18 . nonsynonymous SNV ENSG00000150275.18:ENST00000320301.10:exon3:c.A99T:p.K33N 10q21.1 C3N-00953 . . . . . . . . . 10.19 D D D P . D L T D 0.748 T T D 0.197 0.431 0.771 0.191 T T T T D D 3.533 24.800 0.999 D D 0.450 4.670 0.451 4.744 0.002 0.487 0.574 0.574 0.564 . 5.740 4.610 0.425 1.138 0.663 0.998 1.000 0.986 982 . . . . PCDH15 239 0 136 18 0.116883116883117 TRUE TRUE +ENSG00000155229.21 . BCM GRCh38.p13 chr10 97469101 97469101 + A A C Missense_Mutation SNP ENST00000438925.7 exon12 c.T928G p.F310V exonic ENSG00000155229.21 . nonsynonymous SNV ENSG00000155229.21:ENST00000438925.7:exon12:c.T928G:p.F310V 10q24.1 C3N-00953 . . . . . . . . . 15.20 D D D P D D M T D 0.927 T T D 0.536 0.408 0.822 0.346 D T D D D D 4.198 28.600 0.982 D D 0.653 6.513 0.647 6.874 1.000 0.707 0.702 0.702 0.714 . 4.990 4.990 9.006 1.312 0.756 1.000 1.000 0.997 384 MMS19,_N-terminal . . . MMS19 155 0 116 18 0.134328358208955 TRUE TRUE +ENSG00000173442.13 . BCM GRCh38.p13 chr11 65582047 65582047 + C C G Missense_Mutation SNP ENST00000309295.9 exon9 c.C1375G p.P459A exonic ENSG00000173442.13 . nonsynonymous SNV ENSG00000173442.13:ENST00000309295.9:exon9:c.C1375G:p.P459A 11q13.1 C3N-00953 . . . . . . . . . 4.20 D T P P N N L T D 0.173 T T D 0.179 0.146 0.822 0.161 T T T T D T 2.682 22.800 0.996 N N 0.077 2.796 0.060 2.576 1.000 0.672 0.702 0.645 0.700 . 4.240 3.240 0.303 1.026 0.599 0.000 0.902 0.943 280 . . . . EHBP1L1 83 0 75 15 0.166666666666667 TRUE TRUE +ENSG00000135392.16 . BCM GRCh38.p13 chr12 55827818 55827818 + T T - Frame_Shift_Del DEL ENST00000357606.7 exon3 c.841delA p.S281Afs*18 exonic ENSG00000135392.16 . frameshift deletion ENSG00000135392.16:ENST00000357606.7:exon3:c.841delA:p.S281Afs*18 12q13.2 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJC14 80 0 49 10 0.169491525423729 TRUE TRUE +ENSG00000076248.11 . BCM GRCh38.p13 chr12 109103543 109103543 + A A G Missense_Mutation SNP ENST00000242576.7 exon6 c.A733G p.N245D exonic ENSG00000076248.11 . nonsynonymous SNV ENSG00000076248.11:ENST00000242576.7:exon6:c.A733G:p.N245D 12q24.11 C3N-00953 . . . . . . . . . 7.20 T T B B D D L T D 0.704 T T T 0.173 0.499 0.718 0.156 T T T T D D 2.352 21.900 0.993 D D -0.037 2.383 0.085 2.674 1.000 0.707 0.725 0.702 0.714 . 5.040 5.040 5.828 1.307 0.745 1.000 0.754 0.946 572 Uracil-DNA_glycosylase-like . . . UNG 506 0 349 63 0.152912621359223 TRUE TRUE +ENSG00000137815.14 . BCM GRCh38.p13 chr15 41457816 41457816 + A A C Missense_Mutation SNP ENST00000389629.8 exon4 c.A602C p.E201A exonic ENSG00000137815.14 . nonsynonymous SNV ENSG00000137815.14:ENST00000389629.8:exon4:c.A602C:p.E201A 15q15.1 C3N-00953 . . . . . . . . . 17.19 D D D D D D M . D 0.778 T T D 0.509 0.274 0.504 2.213 D D D D D D 4.024 27.200 0.997 D D 0.876 10.458 0.850 11.771 1.000 0.707 0.725 0.725 0.714 . 5.670 5.670 8.947 1.308 0.756 1.000 0.999 0.998 206 . . . . RTF1 353 0 239 41 0.146428571428571 TRUE TRUE +ENSG00000103657.14 . BCM GRCh38.p13 chr15 63624237 63624237 + T T C Missense_Mutation SNP ENST00000443617.7 exon72 c.A13366G p.M4456V exonic ENSG00000103657.14 . nonsynonymous SNV ENSG00000103657.14:ENST00000443617.7:exon72:c.A13366G:p.M4456V 15q22.31 C3N-00953 8.286e-06 0 0 0 0 1.5e-05 0 0 rs773560667 6.20 D T P P U D N T N 0.803 T T T 0.166 0.464 0.151 1.017 D T T T T D 3.585 25.000 0.984 D D 0.296 3.758 0.399 4.348 1.000 0.732 0.725 0.744 0.714 . 5.300 5.300 5.005 1.138 0.665 1.000 1.000 0.997 646 . . . . HERC1 151 1 111 16 0.125984251968504 TRUE NA +ENSG00000140798.16 . BCM GRCh38.p13 chr16 48100882 48100882 + A A G Missense_Mutation SNP ENST00000311303.7 exon21 c.T3028C p.C1010R exonic ENSG00000140798.16 . nonsynonymous SNV ENSG00000140798.16:ENST00000311303.7:exon21:c.T3028C:p.C1010R 16q12.1 C3N-00953 8.293e-06 0 8.667e-05 0 0 0 0 0 rs760212862 7.20 T T B B N D L D N 0.305 D D D 0.389 0.776 0.827 0.254 T T T T D T 1.924 18.670 0.518 N D 0.055 2.713 0.038 2.495 1.000 0.487 0.233 0.547 0.564 . 5.390 5.390 5.605 1.199 0.756 1.000 0.339 0.007 554 ABC_transporter_type_1,_transmembrane_domain . . . ABCC12 153 0 110 10 0.0833333333333333 TRUE NA +ENSG00000090857.14 . BCM GRCh38.p13 chr16 70142675 70142675 + T T A Missense_Mutation SNP ENST00000288050.9 exon13 c.T1594A p.F532I exonic ENSG00000090857.14 . nonsynonymous SNV ENSG00000090857.14:ENST00000288050.9:exon13:c.T1594A:p.F532I 16q22.1 C3N-00953 . . . . . . . . . 10.20 T T B B D D N T N 0.846 T T D 0.418 0.601 0.846 1.502 D T D D D D 2.404 22.100 0.963 D D 0.237 3.471 0.350 4.024 1.000 0.707 0.725 0.725 0.714 . 4.990 4.990 7.660 1.091 0.564 1.000 0.998 0.992 178 Aminomethyltransferase,_folate-binding_domain . . . PDPR 517 0 370 39 0.0953545232273839 NA TRUE +ENSG00000132535.21 . BCM GRCh38.p13 chr17 7193688 7193688 + C C T Missense_Mutation SNP ENST00000399506.9 exon15 c.G1570A p.E524K exonic ENSG00000132535.21 . nonsynonymous SNV ENSG00000132535.21:ENST00000399506.9:exon15:c.G1570A:p.E524K 17p13.1 C3N-00953 . . . . . . . . . 16.19 D D D D . D M T D 0.934 T T D 0.369 0.422 0.827 2.390 D D D D D D 3.968 26.800 0.999 D D 0.746 7.821 0.724 8.225 1.000 0.707 0.634 0.702 0.714 . 5.200 5.200 5.447 1.026 0.599 1.000 0.998 0.998 456 . . . . DLG4 20 0 23 4 0.148148148148148 TRUE TRUE +ENSG00000099330.9 . BCM GRCh38.p13 chr19 17226863 17226864 + GC GC - Frame_Shift_Del DEL ENST00000215061.9 exon2 c.240_241del p.P82Afs*35 exonic ENSG00000099330.9 . frameshift deletion ENSG00000099330.9:ENST00000215061.9:exon2:c.240_241del:p.P82Afs*35 19p13.11 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OCEL1 18 0 18 4 0.181818181818182 TRUE TRUE +ENSG00000010310.9 . BCM GRCh38.p13 chr19 45672872 45672872 + G G A Missense_Mutation SNP ENST00000590918.6 exon5 c.G302A p.R101H exonic ENSG00000010310.9 . nonsynonymous SNV ENSG00000010310.9:ENST00000590918.6:exon5:c.G302A:p.R101H 19q13.32 C3N-00953 0.0012 0.0136 0.0003 0 0 1.499e-05 0 0 rs115338345 13.19 D D D D D D H T D 0.650 D T . 0.669 . 0.808 0.922 T D T T T D 3.742 25.600 0.999 D D 0.748 7.847 0.679 7.379 1.000 0.719 0.723 0.547 0.639 . 4.810 4.810 3.960 1.069 0.658 1.000 0.997 0.949 851 GPCR,_family_2,_extracellular_hormone_receptor_domain . . . GIPR 372 0 276 41 0.129337539432177 TRUE NA +ENSG00000189190.10 . BCM GRCh38.p13 chr19 52767356 52767363 + GGATTTGG GGATTTGG - Frame_Shift_Del DEL ENST00000338230.3 exon3 c.393_400del p.Q132Yfs*3 exonic ENSG00000189190.10 . frameshift deletion ENSG00000189190.10:ENST00000338230.3:exon3:c.393_400del:p.Q132Yfs*3 19q13.41 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF600 154 0 88 19 0.177570093457944 TRUE TRUE +ENSG00000126583.11 . BCM GRCh38.p13 chr19 53900269 53900269 + G G A Missense_Mutation SNP ENST00000263431.4 exon12 c.G1318A p.G440R exonic ENSG00000126583.11 . nonsynonymous SNV ENSG00000126583.11:ENST00000263431.4:exon12:c.G1318A:p.G440R 19q13.42 C3N-00953 . . . . . . . . . 15.19 D D D D . D M T D 0.991 T T D 0.609 0.929 0.919 2.510 D T D D D D 4.400 31 0.999 D D 0.855 9.958 0.740 8.579 1.000 0.707 0.547 0.725 0.613 . 3.450 3.450 9.798 1.176 0.676 1.000 0.998 0.998 994 Protein_kinase_domain . . ID=COSV54730150;OCCURENCE=1(skin) PRKCG 888 1 515 141 0.214939024390244 TRUE TRUE +ENSG00000099326.9 . BCM GRCh38.p13 chr19 58562236 58562236 + - NA GGGCCGTTCGCCCAG In_Frame_Ins INS ENST00000215057.7 exon6 c.2040_2041insCTGGGCGAACGGCCC p.P680_Y681insLGERP exonic ENSG00000099326.9 . nonframeshift insertion ENSG00000099326.9:ENST00000215057.7:exon6:c.2040_2041insCTGGGCGAACGGCCC:p.P680_Y681insLGERP 19q13.43 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MZF1 NA NA NA NA NA NA NA +ENSG00000154734.15 . BCM GRCh38.p13 chr21 26837917 26837917 + A A T Missense_Mutation SNP ENST00000284984.8 exon9 c.T2566A p.S856T exonic ENSG00000154734.15 . nonsynonymous SNV ENSG00000154734.15:ENST00000284984.8:exon9:c.T2566A:p.S856T 21q21.3 C3N-00953 . . . . . . . . . 4.19 T T B B . D L T N 0.374 T T D 0.127 0.532 0.672 0.755 T T T T T T 1.995 19.220 0.904 D D -0.106 2.156 0.047 2.526 1.000 0.722 0.574 0.576 0.735 . 5.450 5.450 5.305 1.312 0.691 1.000 0.801 0.967 834 . . . . ADAMTS1 363 0 242 50 0.171232876712329 TRUE TRUE +ENSG00000179083.6 . BCM GRCh38.p13 chrX 93709633 93709633 + G G T Nonsense_Mutation SNP ENST00000322139.4 exon3 c.G214T p.E72X exonic ENSG00000179083.6 . stopgain ENSG00000179083.6:ENST00000322139.4:exon3:c.G214T:p.E72X Xq21.32 C3N-00953 . . . . . . . . . 5.5 . . . . D D . . . 0.178 . . . . . . . . . D D . . 6.198 35 0.998 D . . . . . 0.023 . . . . . 3.290 3.290 2.507 1.083 0.674 1.000 0.987 0.998 987 . . . . FAM133A 46 0 19 10 0.344827586206897 TRUE NA +ENSG00000213401.10 . BCM GRCh38.p13 chrX 152736199 152736199 + A A T Missense_Mutation SNP ENST00000393869.8 exon3 c.A38T p.E13V exonic ENSG00000213401.10 . nonsynonymous SNV ENSG00000213401.10:ENST00000393869.8:exon3:c.A38T:p.E13V Xq28 C3N-00953 . . . . . . . . . 3.6 D D . . . . . T D 0.212 . . . . . . . . T . . . T 1.972 19.040 . . . . . . . . . . . . . . . 0.042 0.421 0.289 0.002 0.000 0.001 663 Melanoma_associated_antigen,_N-terminal . . . MAGEA12 135 0 76 25 0.247524752475248 NA TRUE +ENSG00000067646.12 . BCM GRCh38.p13 chrY 2961186 2961186 + T T A Missense_Mutation SNP ENST00000155093.8 exon3 c.T174A p.D58E exonic ENSG00000067646.12 . nonsynonymous SNV ENSG00000067646.12:ENST00000155093.8:exon3:c.T174A:p.D58E Yp11.2 C3N-00953 . . . . . . . . . 7.13 D D D D . . L T D 0.438 . . D . . 0.138 0.352 . T T T . T 2.801 23.000 0.989 D . . . . . 1.000 . . . . . 2.470 2.470 1.581 0.915 0.302 1.000 1.000 0.570 . . . . . ZFY 288 0 140 61 0.303482587064677 TRUE TRUE +ENSG00000198842.10 . BCM GRCh38.p13 chr1 167117545 167117545 + C C T Silent SNP ENST00000361200.7 exon4 c.C423T p.V141V exonic ENSG00000198842.10 . synonymous SNV ENSG00000198842.10:ENST00000361200.7:exon4:c.C423T:p.V141V 1q24.1 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP27 196 0 140 26 0.156626506024096 TRUE TRUE +ENSG00000182631.7 . BCM GRCh38.p13 chr5 33937454 33937454 + G G A Silent SNP ENST00000330120.5 exon1 c.G714A p.T238T exonic ENSG00000182631.7 . synonymous SNV ENSG00000182631.7:ENST00000330120.5:exon1:c.G714A:p.T238T 5p13.2 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57508081;OCCURENCE=1(large_intestine) RXFP3 207 1 181 31 0.14622641509434 TRUE TRUE +ENSG00000272674.3 . BCM GRCh38.p13 chr5 141184155 141184155 + C C T Silent SNP ENST00000609684.2 exon1 c.C1596T p.G532G exonic ENSG00000272674.3 . synonymous SNV ENSG00000272674.3:ENST00000609684.2:exon1:c.C1596T:p.G532G 5q31.3 C3N-00953 1.177e-05 0 0 0 0 2.265e-05 0 0 rs782139928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53370404;OCCURENCE=1(large_intestine) PCDHB16 387 0 368 46 0.111111111111111 NA TRUE +ENSG00000241404.7 . BCM GRCh38.p13 chr6 32166534 32166534 + G G A Silent SNP ENST00000333845.11 exon3 c.G138A p.P46P exonic ENSG00000241404.7 . synonymous SNV ENSG00000241404.7:ENST00000333845.11:exon3:c.G138A:p.P46P 6p21.32 C3N-00953 0.0001 0.0004 0.0006 0.0004 0 0 0 6.115e-05 rs575900965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EGFL8 234 0 172 20 0.104166666666667 TRUE NA +ENSG00000147799.11 . BCM GRCh38.p13 chr8 144581223 144581223 + G G A Silent SNP ENST00000276826.5 exon2 c.C135T p.N45N exonic ENSG00000147799.11 . synonymous SNV ENSG00000147799.11:ENST00000276826.5:exon2:c.C135T:p.N45N 8q24.3 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP39 228 0 164 37 0.18407960199005 TRUE TRUE +ENSG00000148343.18 . BCM GRCh38.p13 chr9 129042471 129042471 + C C T Silent SNP ENST00000358369.8 exon3 c.C264T p.P88P exonic ENSG00000148343.18 . synonymous SNV ENSG00000148343.18:ENST00000358369.8:exon3:c.C264T:p.P88P 9q34.11 C3N-00953 3.177e-05 0 0 0 0 0 0 0.0002 rs538683313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99477463;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) MIGA2 297 0 187 57 0.233606557377049 TRUE NA +ENSG00000167771.6 . BCM GRCh38.p13 chr11 63915251 63915251 + G G A Silent SNP ENST00000301459.5 exon3 c.C192T p.P64P exonic ENSG00000167771.6 . synonymous SNV ENSG00000167771.6:ENST00000301459.5:exon3:c.C192T:p.P64P 11q13.1 C3N-00953 0 0 0 0 0 0 0 0 rs754428923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RCOR2 250 0 159 29 0.154255319148936 TRUE NA +ENSG00000127580.17 . BCM GRCh38.p13 chr16 689161 689161 + C C T Silent SNP ENST00000293883.9 exon1 c.G480A p.S160S exonic ENSG00000127580.17 . synonymous SNV ENSG00000127580.17:ENST00000293883.9:exon1:c.G480A:p.S160S 16p13.3 C3N-00953 0.0002 0.0020 0 0 0 0 0 0 rs141181538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR24 74 0 71 11 0.134146341463415 TRUE NA +ENSG00000132535.21 . BCM GRCh38.p13 chr17 7193017 7193017 + G G A Silent SNP ENST00000399506.9 exon17 c.C1794T p.F598F exonic ENSG00000132535.21 . synonymous SNV ENSG00000132535.21:ENST00000399506.9:exon17:c.C1794T:p.F598F 17p13.1 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DLG4 235 0 142 32 0.183908045977011 TRUE TRUE +ENSG00000213973.9 . BCM GRCh38.p13 chr19 22759489 22759489 + G G C Silent SNP ENST00000596209.4 exon4 c.C420G p.T140T exonic ENSG00000213973.9 . synonymous SNV ENSG00000213973.9:ENST00000596209.4:exon4:c.C420G:p.T140T 19p12 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68055380;OCCURENCE=1(lung) ZNF99 40 0 14 3 0.176470588235294 TRUE NA +ENSG00000068078.18 . BCM GRCh38.p13 chr4 1802915 1802915 + C C A Intron SNP NA NA NA NA intronic ENSG00000068078.18 . . . 4p16.3 C3N-00953 2.552e-05 0 0 0 0 4.48e-05 0 0 rs774934127 13.18 D D B B . D . D N 0.694 D D D 0.499 0.551 0.791 0.847 D T D D D T 3.618 25.100 0.986 D D 0.099 2.884 0.201 3.189 1.000 0.632 0.547 0.780 0.563 . 4.080 4.080 2.833 1.026 0.599 0.995 1.000 0.999 689 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . FGFR3 188 0 137 25 0.154320987654321 TRUE NA +ENSG00000133710.16 . BCM GRCh38.p13 chr5 148125530 148125530 + T T C Intron SNP NA NA NA NA intronic ENSG00000133710.16 . . . 5q32 C3N-00953 1.812e-05 0 0 0.0001 0 1.645e-05 0 0 rs190012161 3.18 T T D P N D . T D 0.288 T T T 0.159 . 0.578 0.548 T . T T T T 2.480 22.400 0.877 N N -0.411 1.360 -0.573 1.087 0.003 0.554 0.547 0.602 0.568 . 4.180 0.239 0.235 -0.213 -0.155 0.012 0.055 0.278 868 . . . . SPINK5 282 0 216 35 0.139442231075697 TRUE NA +ENSG00000239539.1 . BCM GRCh38.p13 chr10 19489130 19489130 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000239539.1 . . . 10p12.31 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMGN1P20 200 0 119 21 0.15 TRUE NA +ENSG00000178440.7 . BCM GRCh38.p13 chr10 49973025 49973025 + T T - RNA SNP NA NA NA NA ncRNA_exonic ENSG00000178440.7;ENSG00000204152.12 . . . 10q11.23 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TIMM23B-AGAP6 249 0 130 30 0.1875 NA TRUE +ENSG00000214655.10 . BCM GRCh38.p13 chr10 73801727 73801727 + G G C 3'UTR SNP NA NA NA NA UTR3 ENSG00000214655.10;ENSG00000272916.5 ENST00000605216.5:c.*208G>C;ENST00000603027.5:c.*988C>G . . 10q22.2 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSWIM8 226 0 161 41 0.202970297029703 TRUE NA +ENSG00000063587.15 . BCM GRCh38.p13 chrX 153344200 153344200 + G G T Intron SNP NA NA NA NA intronic ENSG00000063587.15 . . . Xq28 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF275 71 0 40 25 0.384615384615385 TRUE NA +ENSG00000204209.13 . BCM GRCh38.p13 chr6 33320865 33320866 + GG GG TC Unknown MNP ENST00000374542.10 exon3 c.909_910delinsGA p.L304I exonic ENSG00000204209.13 . nonframeshift substitution ENSG00000204209.13:ENST00000374542.10:exon3:c.909_910delinsGA:p.L304I 6p21.32 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DAXX 446 5 364 5 0.013550135501355 TRUE NA +ENSG00000157106.17 . BCM GRCh38.p13 chr16 18870848 18870849 + GC GC AA Unknown MNP ENST00000446231.7 exon17 c.2342_2343delinsTT p.S781I exonic ENSG00000157106.17 . nonframeshift substitution ENSG00000157106.17:ENST00000446231.7:exon17:c.2342_2343delinsTT:p.S781I 16p12.3 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMG1 181 0 101 16 0.136752136752137 NA TRUE +ENSG00000186675.7 . BCM GRCh38.p13 chrX 75784452 75784453 + CC CC AA Unknown MNP ENST00000373359.4 exon1 c.599_600delinsTT p.W200F exonic ENSG00000186675.7 . nonframeshift substitution ENSG00000186675.7:ENST00000373359.4:exon1:c.599_600delinsTT:p.W200F Xq13.3 C3N-00953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEE2 133 7 102 6 0.0555555555555556 TRUE TRUE +ENSG00000198793.13 . BCM GRCh38.p13 chr1 11122101 11122101 + A A C Missense_Mutation SNP ENST00000361445.9 exon48 c.T6688G p.L2230V exonic ENSG00000198793.13 . nonsynonymous SNV ENSG00000198793.13:ENST00000361445.9:exon48:c.T6688G:p.L2230V 1p36.22 C3N-01176 . . . . . . . . . 18.20 D D D D D D H D D 0.884 D D D 0.791 0.737 0.955 2.551 T D D D D D 2.602 22.600 0.996 D N 0.302 3.789 0.079 2.650 0.003 0.707 0.725 0.702 0.714 . 5.360 1.730 0.686 0.324 0.756 0.663 0.987 0.938 391 Phosphatidylinositol_3-/4-kinase,_catalytic_domain . . ID=COSV63875963;OCCURENCE=1(central_nervous_system),1(kidney) MTOR 177 0 106 43 0.288590604026846 TRUE TRUE +ENSG00000215695.1 . BCM GRCh38.p13 chr1 15660841 15660841 + G G A Missense_Mutation SNP ENST00000345034.1 exon1 c.G973A p.E325K exonic ENSG00000215695.1 . nonsynonymous SNV ENSG00000215695.1:ENST00000345034.1:exon1:c.G973A:p.E325K 1p36.21 C3N-01176 . . . . . . . . . 1.20 T T B B N N L T N 0.120 T T T 0.089 0.128 0.128 0.041 T D T T T T 1.391 15.020 0.958 N N -0.754 0.724 -0.702 0.896 0.002 0.707 0.725 0.609 0.714 . 5.740 1.150 1.593 -0.101 0.676 0.625 0.010 0.535 846 . . . ID=COSV60779412;OCCURENCE=1(large_intestine) RSC1A1 161 0 123 41 0.25 TRUE TRUE +ENSG00000011007.12 . BCM GRCh38.p13 chr1 23751075 23751075 + G G - Frame_Shift_Del DEL ENST00000418390.6 exon4 c.548delG p.R183Sfs*83 exonic ENSG00000011007.12 . frameshift deletion ENSG00000011007.12:ENST00000418390.6:exon4:c.548delG:p.R183Sfs*83 1p36.11 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ELOA 221 0 94 59 0.38562091503268 TRUE TRUE +ENSG00000117751.18 . BCM GRCh38.p13 chr1 27838745 27838745 + C C T Missense_Mutation SNP ENST00000311772.10 exon3 c.C164T p.P55L exonic ENSG00000117751.18 . nonsynonymous SNV ENSG00000117751.18:ENST00000311772.10:exon3:c.C164T:p.P55L 1p35.3 C3N-01176 . . . . . . . . . 17.20 D D B B D D M D D 0.819 T D D 0.472 0.540 0.907 1.132 D D D D D D 3.136 23.700 0.995 D D 0.332 3.951 0.502 5.176 1.000 0.732 0.725 0.744 0.714 . 6.170 6.170 7.344 1.026 0.599 1.000 0.997 0.994 395 Forkhead-associated_(FHA)_domain . . . PPP1R8 219 0 108 44 0.289473684210526 TRUE TRUE +ENSG00000135862.6 . BCM GRCh38.p13 chr1 183125397 183125397 + C C G Missense_Mutation SNP ENST00000258341.5 exon15 c.C2648G p.A883G exonic ENSG00000135862.6 . nonsynonymous SNV ENSG00000135862.6:ENST00000258341.5:exon15:c.C2648G:p.A883G 1q25.3 C3N-01176 . . . . . . . . . 7.20 T T B B D D M T N 0.244 T T T 0.056 0.334 0.424 0.093 T T T T D D 2.390 22.000 0.984 D D -0.025 2.423 0.107 2.763 1.000 0.732 0.654 0.744 0.714 . 5.640 4.710 4.470 1.026 0.599 1.000 0.848 0.867 580 Laminin_EGF_domain . . . LAMC1 277 0 173 36 0.172248803827751 TRUE TRUE +ENSG00000171150.9 . BCM GRCh38.p13 chr2 46758771 46758771 + A A T Missense_Mutation SNP ENST00000394861.3 exon2 c.A241T p.N81Y exonic ENSG00000171150.9 . nonsynonymous SNV ENSG00000171150.9:ENST00000394861.3:exon2:c.A241T:p.N81Y 2p21 C3N-01176 . . . . . . . . . 11.20 D D D D N D L T N 0.905 T T D 0.296 0.336 0.694 0.351 T T D D D T 3.894 26.300 0.992 D D 0.682 6.878 0.695 7.665 1.000 0.706 0.725 0.710 0.714 . 5.400 5.400 8.850 1.312 0.756 1.000 0.999 0.985 736 . . . . SOCS5 269 0 170 62 0.267241379310345 NA TRUE +ENSG00000158050.5 . BCM GRCh38.p13 chr2 96144210 96144215 + TCCACA TCCACA - In_Frame_Del DEL ENST00000288943.5 exon3 c.669_674del p.V224_E225del exonic ENSG00000158050.5 . nonframeshift deletion ENSG00000158050.5:ENST00000288943.5:exon3:c.669_674del:p.V224_E225del 2q11.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP2 386 0 242 74 0.234177215189873 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178532177 178532177 + G G T Missense_Mutation SNP ENST00000591111.5 exon308 c.C99515A p.T33172K exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon308:c.C99515A:p.T33172K 2q31.2 C3N-01176 8.333e-06 0 0 0.0001 0 0 0 0 rs764562534 3.16 D . B B . N N T D 0.593 T T T 0.193 0.273 0.343 0.102 T . T T T T 2.456 22.300 0.872 D . 0.048 2.685 0.259 3.486 1.000 0.490 0.714 0.670 0.714 . 5.550 5.550 3.971 1.176 0.676 1.000 0.998 0.998 365 . . . . TTN 241 0 169 44 0.206572769953052 TRUE NA +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178707583 178707583 + A A G Missense_Mutation SNP ENST00000591111.5 exon98 c.T28033C p.C9345R exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon98:c.T28033C:p.C9345R 2q31.2 C3N-01176 . . . . . . . . . 13.16 D . D D . D . T D 0.437 D D D 0.856 0.826 0.883 0.616 T . D D D T 3.812 25.900 0.963 D D 1.105 17.735 1.001 18.874 1.000 0.554 0.486 0.618 0.530 . 5.660 5.660 9.211 1.312 0.756 1.000 0.998 0.990 381 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 192 0 109 53 0.327160493827161 TRUE TRUE +ENSG00000178562.18 . BCM GRCh38.p13 chr2 203726741 203726741 + C C T Missense_Mutation SNP ENST00000324106.9 exon2 c.C161T p.S54F exonic ENSG00000178562.18 . nonsynonymous SNV ENSG00000178562.18:ENST00000324106.9:exon2:c.C161T:p.S54F 2q33.2 C3N-01176 . . . . . . . . . 18.20 D D D D D D M T D 0.680 D D D 0.618 0.352 0.946 0.806 T D D D D D 3.613 25.100 0.998 D D 0.776 8.320 0.743 8.640 1.000 0.554 0.588 0.547 0.613 . 5.620 5.620 4.840 1.022 0.596 0.997 0.982 0.859 181 Immunoglobulin_V-set_domain . . . CD28 326 0 198 59 0.229571984435798 TRUE TRUE +ENSG00000116106.12 . BCM GRCh38.p13 chr2 221572233 221572233 + A A T Missense_Mutation SNP ENST00000281821.7 exon1 c.T16A p.Y6N exonic ENSG00000116106.12 . nonsynonymous SNV ENSG00000116106.12:ENST00000281821.7:exon1:c.T16A:p.Y6N 2q36.1 C3N-01176 . . . . . . . . . 4.20 D T B B N D N T N 0.675 T T D 0.114 0.445 0.813 0.941 T T T T T T 3.445 24.500 0.956 D N -0.219 1.823 -0.000 2.358 1.000 0.652 0.552 0.641 0.562 . 5.210 5.210 1.446 1.205 0.738 0.997 1.000 1.000 925 . . . . EPHA4 179 0 140 42 0.230769230769231 TRUE TRUE +ENSG00000144668.12 . BCM GRCh38.p13 chr3 37517556 37517556 + A A G Missense_Mutation SNP ENST00000264741.10 exon10 c.A1088G p.H363R exonic ENSG00000144668.12 . nonsynonymous SNV ENSG00000144668.12:ENST00000264741.10:exon10:c.A1088G:p.H363R 3p22.2 C3N-01176 . . . . . . . . . 7.20 T T B B D D N T N 0.577 T T T 0.331 0.535 0.284 0.836 T T D D D T 1.658 16.750 0.841 D D -0.505 1.166 -0.224 1.730 1.000 0.638 0.563 0.653 0.542 . 5.200 5.200 7.215 1.312 0.756 1.000 0.959 0.818 639 . . . . ITGA9 618 0 207 134 0.392961876832845 TRUE TRUE +ENSG00000164061.5 . BCM GRCh38.p13 chr3 49654571 49654571 + T T A Missense_Mutation SNP ENST00000296452.5 exon5 c.T5015A p.V1672D exonic ENSG00000164061.5 . nonsynonymous SNV ENSG00000164061.5:ENST00000296452.5:exon5:c.T5015A:p.V1672D 3p21.31 C3N-01176 . . . . . . . . . 3.20 D D B B N N N T N 0.519 T T T 0.210 0.451 0.215 0.446 T T T T T D 1.669 16.820 0.862 N N -0.695 0.822 -0.617 1.020 0.999 0.581 0.547 0.576 0.613 . 5.330 4.160 0.680 0.192 -0.147 0.000 0.852 0.174 1 . . . . BSN 71 0 33 16 0.326530612244898 TRUE TRUE +ENSG00000174948.6 . BCM GRCh38.p13 chr3 154429284 154429284 + A A C Missense_Mutation SNP ENST00000389740.3 exon1 c.T332G p.M111R exonic ENSG00000174948.6 . nonsynonymous SNV ENSG00000174948.6:ENST00000389740.3:exon1:c.T332G:p.M111R 3q25.2 C3N-01176 . . . . . . . . . 8.20 D D B B N N L T D 0.687 T T T 0.250 0.641 0.314 0.165 T D T T D D 3.533 24.800 0.975 D D -0.050 2.339 0.116 2.800 1.000 0.437 0.563 0.607 0.530 . 5.670 5.670 8.530 1.312 0.756 1.000 0.989 0.985 886 GPCR,_rhodopsin-like,_7TM . . . GPR149 397 1 201 83 0.292253521126761 TRUE TRUE +ENSG00000187033.9 . BCM GRCh38.p13 chr3 169926944 169926944 + G G A Missense_Mutation SNP ENST00000428432.6 exon6 c.G682A p.D228N exonic ENSG00000187033.9 . nonsynonymous SNV ENSG00000187033.9:ENST00000428432.6:exon6:c.G682A:p.D228N 3q26.2 C3N-01176 . . . . . . . . . 4.20 T D B B N N N T N 0.152 T T T 0.162 0.142 0.544 0.144 T T T T D T 2.615 22.700 0.987 D D -0.127 2.091 -0.011 2.321 1.000 0.487 0.547 0.574 0.530 . 6.160 6.160 7.006 1.176 0.676 1.000 0.005 0.004 566 . . . . SAMD7 212 0 140 63 0.310344827586207 TRUE TRUE +ENSG00000159733.14 . BCM GRCh38.p13 chr4 2304469 2304469 + C C T Missense_Mutation SNP ENST00000290974.7 exon8 c.G1871A p.R624Q exonic ENSG00000159733.14 . nonsynonymous SNV ENSG00000159733.14:ENST00000290974.7:exon8:c.G1871A:p.R624Q 4p16.3 C3N-01176 5.853e-05 0 0 0 0 0.0001 0 0 rs139626221 1.20 T T B B N N N T N 0.075 T T D 0.061 . 0.134 0.049 T T T T T T 0.355 4.924 0.669 N N -1.339 0.145 -1.296 0.211 0.790 0.554 0.588 0.576 0.568 . 3.970 -1.660 0.679 -0.937 -0.926 0.994 0.001 0.002 862 . . . ID=COSV52108005;OCCURENCE=2(large_intestine) ZFYVE28 105 0 73 23 0.239583333333333 TRUE TRUE +ENSG00000150712.11 . BCM GRCh38.p13 chr5 32229820 32229820 + - NA A Frame_Shift_Ins INS ENST00000382142.8 exon16 c.2201dupT p.L734Ffs*7 exonic ENSG00000150712.11 . frameshift insertion ENSG00000150712.11:ENST00000382142.8:exon16:c.2201dupT:p.L734Ffs*7 5p13.3 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTMR12 NA NA NA NA NA NA NA +ENSG00000164190.19 . BCM GRCh38.p13 chr5 37022305 37022305 + C C T Missense_Mutation SNP ENST00000282516.13 exon29 c.C5489T p.A1830V exonic ENSG00000164190.19 . nonsynonymous SNV ENSG00000164190.19:ENST00000282516.13:exon29:c.C5489T:p.A1830V 5p13.2 C3N-01176 . . . . . . . . . 20.20 D D D D D D M D D 0.980 D D D 0.914 0.529 0.995 2.054 D D D D D D 4.134 28.100 0.999 D D 0.814 9.054 0.783 9.638 1.000 0.707 0.725 0.725 0.714 . 5.080 5.080 7.476 1.026 0.599 1.000 1.000 0.997 128 . . . . NIPBL 334 0 190 56 0.227642276422764 TRUE TRUE +ENSG00000113593.12 . BCM GRCh38.p13 chr5 65586089 65586090 + AC AC - Frame_Shift_Del DEL ENST00000261308.10 exon10 c.1705_1706del p.T569Ifs*4 exonic ENSG00000113593.12 . frameshift deletion ENSG00000113593.12:ENST00000261308.10:exon10:c.1705_1706del:p.T569Ifs*4 5q12.3 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPWD1 251 0 150 25 0.142857142857143 TRUE TRUE +ENSG00000164609.10 . BCM GRCh38.p13 chr5 160407534 160407534 + G G A Missense_Mutation SNP ENST00000297151.9 exon11 c.C1067T p.S356F exonic ENSG00000164609.10 . nonsynonymous SNV ENSG00000164609.10:ENST00000297151.9:exon11:c.C1067T:p.S356F 5q33.3 C3N-01176 . . . . . . . . . 14.20 D D D P D D L T D 0.742 T T D 0.401 0.384 0.786 2.691 D T D D D D 4.257 29.200 0.998 D D 0.857 9.988 0.898 13.660 1.000 0.707 0.725 0.725 0.714 . 6.170 6.170 9.393 1.176 0.676 1.000 1.000 0.999 928 Pre-mRNA-splicing_factor_SLU7_domain . . . SLU7 109 0 80 28 0.259259259259259 TRUE TRUE +ENSG00000137393.10 . BCM GRCh38.p13 chr6 18439735 18439735 + T T A Missense_Mutation SNP ENST00000259939.4 exon4 c.T322A p.F108I exonic ENSG00000137393.10 . nonsynonymous SNV ENSG00000137393.10:ENST00000259939.4:exon4:c.T322A:p.F108I 6p22.3 C3N-01176 . . . . . . . . . 9.20 D T P P D D L T N 0.577 T T D 0.455 0.456 0.898 0.218 T T D T D D 3.941 26.600 0.986 D D 0.522 5.209 0.539 5.539 1.000 0.638 0.574 0.653 0.677 . 5.340 5.340 4.297 1.138 0.665 1.000 1.000 0.994 744 IBR_domain . . . RNF144B 101 0 67 25 0.271739130434783 TRUE TRUE +ENSG00000204700.5 . BCM GRCh38.p13 chr6 29174011 29174011 + G G A Missense_Mutation SNP ENST00000641417.1 exon2 c.G376A p.A126T exonic ENSG00000204700.5 . nonsynonymous SNV ENSG00000204700.5:ENST00000641417.1:exon2:c.G376A:p.A126T 6p22.1 C3N-01176 . . . . . . . . . 7.15 D D . . . D . T D 0.462 T T T 0.161 0.651 0.586 0.416 T . T T D D 3.456 24.600 0.998 D N 0.362 4.117 0.181 3.092 0.165 0.487 0.574 0.574 0.564 . 2.300 2.300 5.758 0.755 0.329 1.000 0.887 0.658 759 GPCR,_rhodopsin-like,_7TM . . . OR2J2 162 0 100 37 0.27007299270073 NA TRUE +ENSG00000166278.15 . BCM GRCh38.p13 chr6 31943266 31943266 + A A T Missense_Mutation SNP ENST00000456570.5 exon8 c.A943T p.M315L exonic ENSG00000166278.15;ENSG00000244255.5 . nonsynonymous SNV ENSG00000244255.5:ENST00000456570.5:exon8:c.A943T:p.M315L,ENSG00000166278.15:ENST00000299367.10:exon11:c.A1402T:p.M468L 6p21.33 C3N-01176 . . . . . . . . . 4.20 T T B P D D N T N 0.263 T T T 0.112 0.457 0.316 0.289 T T T T T T 1.390 15.020 0.936 D D -0.114 2.131 -0.013 2.317 0.998 0.603 0.627 0.573 0.663 . 5.800 3.390 0.030 1.207 0.756 0.982 1.000 0.979 923 Serine_proteases,_trypsin_domain . . . C2 482 0 324 94 0.22488038277512 TRUE TRUE +ENSG00000237441.10 . BCM GRCh38.p13 chr6 33296433 33296433 + C C T Missense_Mutation SNP ENST00000497454.6 exon5 c.G451A p.E151K exonic ENSG00000237441.10 . nonsynonymous SNV ENSG00000237441.10:ENST00000497454.6:exon5:c.G451A:p.E151K 6p21.32 C3N-01176 . . . . . . . . . 3.19 D T P B N D L T N 0.166 T T T 0.106 0.462 0.758 0.451 T T T T T . 1.857 18.160 0.989 D N -0.164 1.979 -0.185 1.822 1.000 0.707 0.725 0.644 0.714 . 4.420 3.520 1.010 1.018 0.589 0.209 0.552 0.327 653 Ras-like_guanine_nucleotide_exchange_factor,_N-terminal . . . RGL2 55 0 44 13 0.228070175438596 TRUE TRUE +ENSG00000112406.5 . BCM GRCh38.p13 chr6 139167285 139167285 + C C T Missense_Mutation SNP ENST00000367658.3 exon2 c.C1273T p.H425Y exonic ENSG00000112406.5 . nonsynonymous SNV ENSG00000112406.5:ENST00000367658.3:exon2:c.C1273T:p.H425Y 6q24.1 C3N-01176 . . . . . . . . . 12.19 T T D D D D L . D 0.892 T T T 0.673 0.405 0.448 1.978 D T D D D D 3.177 23.800 0.998 D D 0.597 5.891 0.624 6.544 1.000 0.706 0.654 0.710 0.636 . 4.920 4.920 7.320 1.016 0.587 1.000 0.979 0.995 792 Headcase,_middle_domain . . . HECA 147 0 99 36 0.266666666666667 TRUE TRUE +ENSG00000002746.15 . BCM GRCh38.p13 chr7 43444593 43444593 + A A T Missense_Mutation SNP ENST00000395891.7 exon11 c.A1421T p.E474V exonic ENSG00000002746.15 . nonsynonymous SNV ENSG00000002746.15:ENST00000395891.7:exon11:c.A1421T:p.E474V 7p13 C3N-01176 . . . . . . . . . 2.20 D T B B N N N T N 0.349 T T T 0.061 0.199 0.244 0.580 T T T T T T 2.275 21.400 0.972 D N -0.485 1.207 -0.432 1.316 0.116 0.615 0.574 0.659 0.542 . 4.880 1.170 1.262 0.314 0.756 0.671 0.094 0.284 917 . . . . HECW1 300 0 193 49 0.202479338842975 TRUE TRUE +ENSG00000136286.16 . BCM GRCh38.p13 chr7 44976930 44976930 + A A T Nonsense_Mutation SNP ENST00000258787.12 exon2 c.T237A p.Y79X exonic ENSG00000136286.16 . stopgain ENSG00000136286.16:ENST00000258787.12:exon2:c.T237A:p.Y79X 7p13 C3N-01176 . . . . . . . . . 1.6 . . . . N A . . . 0.281 . . . . . . . . . T T . . 3.575 25.000 0.918 N N -0.926 0.488 -1.373 0.165 1.000 0.628 0.672 0.547 0.613 . 3.930 -7.850 -2.850 -0.904 -0.617 0.000 0.176 0.511 774 Class_I_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO1G 319 0 198 72 0.266666666666667 TRUE TRUE +ENSG00000135253.14 . BCM GRCh38.p13 chr7 128890508 128890510 + GGC GGC - In_Frame_Del DEL ENST00000613019.4 exon21 c.2180_2182del p.C727del exonic ENSG00000135253.14 . nonframeshift deletion ENSG00000135253.14:ENST00000613019.4:exon21:c.2180_2182del:p.C727del 7q32.1 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCP 125 0 70 25 0.263157894736842 TRUE TRUE +ENSG00000155561.15 . BCM GRCh38.p13 chr7 135618553 135618553 + G G C Missense_Mutation SNP ENST00000285968.11 exon28 c.G3913C p.E1305Q exonic ENSG00000155561.15 . nonsynonymous SNV ENSG00000155561.15:ENST00000285968.11:exon28:c.G3913C:p.E1305Q 7q33 C3N-01176 . . . . . . . . . 9.20 D D P P D D L T N 0.214 T T D 0.324 0.507 0.480 0.811 T T T T D D 4.059 27.400 0.997 D D 0.520 5.197 0.605 6.292 1.000 0.707 0.725 0.725 0.714 . 5.460 5.460 9.850 1.176 0.618 1.000 1.000 0.999 770 . . . . NUP205 142 0 78 33 0.297297297297297 TRUE TRUE +ENSG00000167910.4 . BCM GRCh38.p13 chr8 58496733 58496733 + C C T Missense_Mutation SNP ENST00000301645.4 exon3 c.G779A p.R260H exonic ENSG00000167910.4 . nonsynonymous SNV ENSG00000167910.4:ENST00000301645.4:exon3:c.G779A:p.R260H 8q12.1 C3N-01176 8.237e-06 9.61e-05 0 0 0 0 0 0 rs139396617 14.20 D D D D D D M T D 0.708 T T D 0.343 0.688 0.777 0.526 T D T T D D 3.253 24.000 0.999 D D 0.494 4.991 0.376 4.195 1.000 0.487 0.574 0.574 0.542 . 4.160 4.160 6.815 0.952 0.599 1.000 0.476 0.068 955 . . . ID=COSV56966213;OCCURENCE=1(large_intestine),1(lung) CYP7A1 568 0 400 81 0.168399168399168 TRUE TRUE +ENSG00000181090.21 . BCM GRCh38.p13 chr9 137716976 137716976 + T T G Missense_Mutation SNP ENST00000460843.6 exon3 c.T436G p.S146A exonic ENSG00000181090.21 . nonsynonymous SNV ENSG00000181090.21:ENST00000460843.6:exon3:c.T436G:p.S146A 9q34.3 C3N-01176 . . . . . . . . . 4.20 D D P B N N M T N 0.206 T T D 0.080 0.142 0.452 0.041 T T T T T T 1.549 16.050 0.993 N N -0.053 2.329 -0.117 2.000 1.000 0.707 0.725 0.725 0.714 . 6.000 3.650 1.243 1.075 0.649 0.563 0.437 0.965 982 . . . . EHMT1 137 0 77 31 0.287037037037037 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 17122879 17122879 + T T C Missense_Mutation SNP ENST00000377833.10 exon6 c.A509G p.D170G exonic ENSG00000107611.16 . nonsynonymous SNV ENSG00000107611.16:ENST00000377833.10:exon6:c.A509G:p.D170G 10p13 C3N-01176 . . . . . . . . . 19.20 D D D D D D M D D 0.933 D D D 0.960 0.795 0.982 0.498 T D D D D D 4.407 31 0.998 D D 0.794 8.660 0.739 8.553 1.000 0.554 0.588 0.547 0.568 . 5.220 5.220 6.936 1.049 0.665 1.000 0.975 0.986 733 EGF-like_domain;EGF-like_calcium-binding,_conserved_site;EGF-like_calcium-binding_domain . . . CUBN 453 0 254 82 0.244047619047619 TRUE TRUE +ENSG00000165733.8 . BCM GRCh38.p13 chr10 42796508 42796508 + T T A Missense_Mutation SNP ENST00000374518.6 exon10 c.T1264A p.L422M exonic ENSG00000165733.8 . nonsynonymous SNV ENSG00000165733.8:ENST00000374518.6:exon10:c.T1264A:p.L422M 10q11.21 C3N-01176 . . . . . . . . . 1.20 T T B B N N M T N 0.089 T T T 0.025 0.126 0.223 0.094 T T T T T T 0.121 2.284 0.914 N N -1.040 0.363 -1.107 0.369 0.069 0.707 0.725 0.725 0.714 . 4.710 -5.490 -1.250 -0.741 -0.248 0.000 0.484 0.605 867 . . . . BMS1 103 0 57 15 0.208333333333333 TRUE TRUE +ENSG00000186188.11 . BCM GRCh38.p13 chr10 93567181 93567181 + C C T Missense_Mutation SNP ENST00000371481.9 exon1 c.C461T p.A154V exonic ENSG00000186188.11 . nonsynonymous SNV ENSG00000186188.11:ENST00000371481.9:exon1:c.C461T:p.A154V 10q23.33 C3N-01176 . . . . . . . . . 0.20 T T B B N N L T N 0.196 T T T 0.057 0.587 0.081 0.525 T T T T T T 1.003 11.660 0.968 N N -1.222 0.212 -1.212 0.273 1.000 0.598 0.563 0.607 0.639 . 5.220 -1.310 -0.168 0.094 0.599 0.000 0.004 0.012 237 GPCR,_rhodopsin-like,_7TM . . . FFAR4 249 0 168 69 0.291139240506329 TRUE TRUE +ENSG00000075290.8 . BCM GRCh38.p13 chr10 100482694 100482694 + A A C Missense_Mutation SNP ENST00000343737.6 exon6 c.A934C p.K312Q exonic ENSG00000075290.8 . nonsynonymous SNV ENSG00000075290.8:ENST00000343737.6:exon6:c.A934C:p.K312Q 10q24.31 C3N-01176 . . . . . . . . . 15.20 T T D D D D L T N 0.679 D D D 0.668 0.647 0.443 1.711 D D D D D D 3.965 26.700 0.989 D D 0.694 7.031 0.687 7.521 1.000 0.623 0.552 0.504 0.765 . 5.410 5.410 7.235 1.228 0.587 1.000 1.000 0.998 751 . . . . WNT8B 235 0 168 65 0.278969957081545 TRUE TRUE +ENSG00000148795.7 . BCM GRCh38.p13 chr10 102834930 102834930 + G G T Missense_Mutation SNP ENST00000369887.4 exon3 c.C521A p.A174E exonic ENSG00000148795.7 . nonsynonymous SNV ENSG00000148795.7:ENST00000369887.4:exon3:c.C521A:p.A174E 10q24.32 C3N-01176 . . . . . . . . . 16.20 D D D D D D H T D 0.979 T D D 0.574 0.936 0.933 1.000 T D D D D T 3.286 24.100 0.973 D D 0.183 3.228 0.015 2.412 1.000 0.649 0.596 0.596 0.636 . 5.800 2.970 6.479 1.176 -0.105 1.000 0.004 0.006 575 . . . . CYP17A1 314 0 207 92 0.307692307692308 TRUE TRUE +ENSG00000119927.14 . BCM GRCh38.p13 chr10 112173784 112173784 + G G A Nonsense_Mutation SNP ENST00000348367.9 exon7 c.C475T p.Q159X exonic ENSG00000119927.14 . stopgain ENSG00000119927.14:ENST00000348367.9:exon7:c.C475T:p.Q159X 10q25.2 C3N-01176 . . . . . . . . . 5.6 . . . . D A . . . 0.819 . . . . . . . . . D D . . 7.408 38 0.998 D N 0.817 9.125 0.697 7.696 0.856 0.563 0.654 0.609 0.636 . 6.020 5.060 2.539 1.176 0.676 0.997 0.998 0.932 862 . . . . GPAM 552 0 315 108 0.25531914893617 TRUE TRUE +ENSG00000151923.17 . BCM GRCh38.p13 chr10 119588172 119588172 + T T - Frame_Shift_Del DEL ENST00000436547.6 exon2 c.109delA p.S37Afs*4 exonic ENSG00000151923.17 . frameshift deletion ENSG00000151923.17:ENST00000436547.6:exon2:c.109delA:p.S37Afs*4 10q26.11 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TIAL1 47 0 48 22 0.314285714285714 TRUE TRUE +ENSG00000173933.21 . BCM GRCh38.p13 chr11 66643893 66643913 + GCTGCTGCTGCAGCAGCAGCC GCTGCTGCTGCAGCAGCAGCC - In_Frame_Del DEL ENST00000412278.2 exon2 c.781_801del p.A264_A270del exonic ENSG00000173933.21;ENSG00000248643.5 . nonframeshift deletion ENSG00000248643.5:ENST00000412278.2:exon2:c.781_801del:p.A264_A270del,ENSG00000173933.21:ENST00000310092.12:exon3:c.856_876del:p.A289_A295del 11q13.2 C3N-01176 0.0004 0.0007 0.0005 0.0006 0 0.0005 0 0.0001 rs773057844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM4 275 4 155 72 0.317180616740088 TRUE TRUE +ENSG00000137497.18 . BCM GRCh38.p13 chr11 72016471 72016471 + G G C Missense_Mutation SNP ENST00000393695.8 exon14 c.C1179G p.H393Q exonic ENSG00000137497.18 . nonsynonymous SNV ENSG00000137497.18:ENST00000393695.8:exon14:c.C1179G:p.H393Q 11q13.4 C3N-01176 . . . . . . . . . 0.20 T T B B N N N T N 0.167 T T T 0.030 0.090 0.309 0.286 T T T T T T -0.036 1.125 0.545 N N -1.679 0.040 -1.743 0.043 1.000 0.672 0.702 0.702 0.711 . 5.320 -9.530 -0.592 -0.727 -0.244 0.000 0.241 0.819 537 . . . . NUMA1 206 0 158 51 0.244019138755981 TRUE TRUE +ENSG00000170322.14 . BCM GRCh38.p13 chr11 129864725 129864725 + T T C Nonstop_Mutation SNP ENST00000446488.7 exon26 c.A3900G p.X1300W exonic ENSG00000170322.14 . stoploss ENSG00000170322.14:ENST00000446488.7:exon26:c.A3900G:p.X1300W 11q24.3 C3N-01176 . . . . . . . . . 1.4 . . . . . N . . . 0.017 . . . . . . . . . T T . . 1.675 16.860 0.846 D . 0.986 13.497 0.801 10.159 1.000 0.359 0.304 0.373 0.323 0.952 5.690 5.690 6.472 1.138 0.665 1.000 0.656 0.307 824 . . . . NFRKB 168 0 117 53 0.311764705882353 TRUE TRUE +ENSG00000139648.7 . BCM GRCh38.p13 chr12 52549313 52549313 + C C T Missense_Mutation SNP ENST00000267119.6 exon3 c.G697A p.E233K exonic ENSG00000139648.7 . nonsynonymous SNV ENSG00000139648.7:ENST00000267119.6:exon3:c.G697A:p.E233K 12q13.13 C3N-01176 . . . . . . . . . 17.20 D D D P D D M D D 0.745 D D D 0.648 0.634 0.953 0.375 T D D D D T 3.588 25.000 0.999 D D 0.624 6.176 0.534 5.488 1.000 0.487 0.563 0.574 0.542 . 5.040 5.040 4.068 1.026 0.599 0.999 0.797 0.389 856 Intermediate_filament,_rod_domain . . ID=COSV57293035;OCCURENCE=3(skin) KRT71 319 0 205 58 0.220532319391635 TRUE TRUE +ENSG00000166268.11 . BCM GRCh38.p13 chr12 69879060 69879060 + C C G Missense_Mutation SNP ENST00000552032.7 exon3 c.C170G p.S57C exonic ENSG00000166268.11 . nonsynonymous SNV ENSG00000166268.11:ENST00000552032.7:exon3:c.C170G:p.S57C 12q15 C3N-01176 . . . . . . . . . 5.12 D D . . . D . T D 0.213 . . D . . 0.276 . . T T T . T 2.041 19.570 0.974 N N . . . . 1.000 0.554 0.588 0.575 0.651 . 5.490 4.590 1.599 1.026 0.599 0.679 0.876 0.825 532 . . . . MYRFL 361 0 207 61 0.227611940298507 TRUE TRUE +ENSG00000074527.13 . BCM GRCh38.p13 chr12 95786983 95786983 + A A - Frame_Shift_Del DEL ENST00000343702.9 exon2 c.541delT p.C181Vfs*39 exonic ENSG00000074527.13 . frameshift deletion ENSG00000074527.13:ENST00000343702.9:exon2:c.541delT:p.C181Vfs*39 12q22 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NTN4 186 0 109 48 0.305732484076433 TRUE TRUE +ENSG00000136021.19 . BCM GRCh38.p13 chr12 100315639 100315639 + G G T Missense_Mutation SNP ENST00000360820.7 exon9 c.G1177T p.V393F exonic ENSG00000136021.19 . nonsynonymous SNV ENSG00000136021.19:ENST00000360820.7:exon9:c.G1177T:p.V393F 12q23.1 C3N-01176 . . . . . . . . . 16.20 D D D D D D M T D 0.937 T T D 0.613 0.563 0.649 0.863 D T D D D D 4.142 28.100 0.996 D D 0.938 12.076 0.916 14.459 1.000 0.732 0.709 0.710 0.728 . 5.530 5.530 10.003 1.176 0.618 1.000 1.000 0.996 675 . . . . SCYL2 102 0 69 33 0.323529411764706 TRUE TRUE +ENSG00000182782.8 . BCM GRCh38.p13 chr12 122702515 122702515 + G G A Missense_Mutation SNP ENST00000328880.6 exon1 c.C769T p.L257F exonic ENSG00000182782.8 . nonsynonymous SNV ENSG00000182782.8:ENST00000328880.6:exon1:c.C769T:p.L257F 12q24.31 C3N-01176 . . . . . . . . . 3.20 T T P P D D L T N 0.071 T T D 0.269 0.588 0.842 0.839 T T T T T T 2.055 19.680 0.995 N N -0.214 1.837 -0.368 1.431 0.069 0.554 0.588 0.547 0.530 . 4.970 2.000 0.715 1.166 0.675 0.215 0.834 0.115 480 GPCR,_rhodopsin-like,_7TM . . ID=COSV61025040;OCCURENCE=1(autonomic_ganglia) HCAR2 677 0 497 79 0.137152777777778 NA TRUE +ENSG00000255398.3 . BCM GRCh38.p13 chr12 122715969 122715969 + G G A Missense_Mutation SNP ENST00000528880.3 exon1 c.C769T p.L257F exonic ENSG00000255398.3 . nonsynonymous SNV ENSG00000255398.3:ENST00000528880.3:exon1:c.C769T:p.L257F 12q24.31 C3N-01176 . . . . . . . . . 4.17 D T . . . D L T N 0.045 T T D 0.302 0.553 0.555 1.701 T T T T T T 2.192 20.800 0.980 D N -0.086 2.218 -0.199 1.788 0.000 0.554 0.588 0.547 0.542 . 3.260 2.310 -0.020 1.063 0.320 0.002 0.833 0.047 465 GPCR,_rhodopsin-like,_7TM . . . HCAR3 80 0 52 10 0.161290322580645 NA TRUE +ENSG00000032742.17 . BCM GRCh38.p13 chr13 20574393 20574393 + A A - Frame_Shift_Del DEL ENST00000351808.9 exon2 c.8delA p.N4Mfs*39 exonic ENSG00000032742.17 . frameshift deletion ENSG00000032742.17:ENST00000351808.9:exon2:c.8delA:p.N4Mfs*39 13q12.11 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFT88 90 0 64 23 0.264367816091954 TRUE TRUE +ENSG00000102531.16 . BCM GRCh38.p13 chr13 49186079 49186080 + CA CA - Frame_Shift_Del DEL ENST00000492622.6 exon15 c.1733_1734del p.H579Qfs*3 exonic ENSG00000102531.16 . frameshift deletion ENSG00000102531.16:ENST00000492622.6:exon15:c.1733_1734del:p.H579Qfs*3 13q14.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FNDC3A 60 0 44 27 0.380281690140845 TRUE TRUE +ENSG00000197991.11 . BCM GRCh38.p13 chr13 61413422 61413422 + G G A Missense_Mutation SNP ENST00000409204.4 exon2 c.C677T p.T226I exonic ENSG00000197991.11;ENSG00000280165.1 . nonsynonymous SNV ENSG00000280165.1:ENST00000409204.4:exon2:c.C677T:p.T226I,ENSG00000197991.11:ENST00000409186.1:exon5:c.C677T:p.T226I 13q21.2 C3N-01176 . . . . . . . . . 12.18 D D . . D D M T D 0.514 T T D 0.361 0.647 0.301 0.823 T T D T D D 3.843 26.000 0.998 D D 0.882 10.602 0.842 11.474 1.000 0.598 0.627 0.615 0.639 . 5.760 5.760 6.621 1.176 0.674 1.000 0.916 0.705 963 Cadherin-like . . . AL592490.1 231 0 164 46 0.219047619047619 TRUE TRUE +ENSG00000041515.16 . BCM GRCh38.p13 chr13 109125129 109125129 + G G T Missense_Mutation SNP ENST00000356711.7 exon30 c.G3487T p.A1163S exonic ENSG00000041515.16 . nonsynonymous SNV ENSG00000041515.16:ENST00000356711.7:exon30:c.G3487T:p.A1163S 13q33.3 C3N-01176 . . . . . . . . . 15.19 D D D D U D M D N 0.640 D D D 0.731 0.591 0.821 0.690 T T D D D . 3.873 26.200 0.997 D D 0.556 5.499 0.583 6.020 1.000 0.487 0.547 0.547 0.564 . 5.750 4.890 8.465 1.176 0.676 1.000 0.993 0.991 982 IQ_motif,_EF-hand_binding_site . . . MYO16 235 0 129 59 0.313829787234043 TRUE TRUE +ENSG00000198805.12 . BCM GRCh38.p13 chr14 20475115 20475116 + AG AG - Frame_Shift_Del DEL ENST00000361505.10 exon5 c.515_516del p.R173Gfs*13 exonic ENSG00000198805.12 . frameshift deletion ENSG00000198805.12:ENST00000361505.10:exon5:c.515_516del:p.R173Gfs*13 14q11.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PNP 510 0 311 90 0.224438902743142 TRUE TRUE +ENSG00000198604.11 . BCM GRCh38.p13 chr14 34811027 34811027 + T T - Frame_Shift_Del DEL ENST00000360310.6 exon5 c.546delA p.D183Mfs*42 exonic ENSG00000198604.11 . frameshift deletion ENSG00000198604.11:ENST00000360310.6:exon5:c.546delA:p.D183Mfs*42 14q13.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAZ1A 52 0 32 14 0.304347826086957 TRUE TRUE +ENSG00000100934.15 . BCM GRCh38.p13 chr14 39061789 39061789 + A A G Missense_Mutation SNP ENST00000307712.11 exon13 c.T1481C p.I494T exonic ENSG00000100934.15 . nonsynonymous SNV ENSG00000100934.15:ENST00000307712.11:exon13:c.T1481C:p.I494T 14q21.1 C3N-01176 . . . . . . . . . 12.20 T T B B D D M T D 0.963 T T D 0.684 0.705 0.870 0.507 D T D D D D 2.913 23.200 0.993 D D 0.201 3.308 0.366 4.125 1.000 0.722 0.699 0.725 0.714 . 5.400 5.400 9.215 1.233 0.756 1.000 0.999 0.949 862 Sec23/Sec24_beta-sandwich . . . SEC23A 414 0 256 81 0.240356083086053 TRUE TRUE +ENSG00000126773.13 . BCM GRCh38.p13 chr14 60125642 60125642 + C C G Missense_Mutation SNP ENST00000406854.6 exon10 c.C3086G p.T1029S exonic ENSG00000126773.13 . nonsynonymous SNV ENSG00000126773.13:ENST00000406854.6:exon10:c.C3086G:p.T1029S 14q23.1 C3N-01176 . . . . . . . . . 5.20 T T P B D D N T N 0.363 T T T 0.108 0.539 0.234 0.013 T T T T D T 1.919 18.630 0.996 D D -0.110 2.142 0.065 2.597 1.000 0.732 0.709 0.744 0.728 . 4.750 4.750 4.980 1.026 0.549 0.990 0.998 0.993 604 Pecanex,_C-terminal . . . PCNX4 13 0 17 4 0.19047619047619 TRUE TRUE +ENSG00000054983.17 . BCM GRCh38.p13 chr14 87963384 87963384 + C C A Missense_Mutation SNP ENST00000261304.7 exon10 c.G1161T p.M387I exonic ENSG00000054983.17 . nonsynonymous SNV ENSG00000054983.17:ENST00000261304.7:exon10:c.G1161T:p.M387I 14q31.3 C3N-01176 . . . . . . . . . 16.20 T T D B D D M D D 0.919 D D D 0.725 0.683 0.987 0.358 T D D D D D 5.008 33 0.995 D D 0.639 6.347 0.652 6.941 1.000 0.706 0.634 0.710 0.564 . 5.180 5.180 7.804 1.026 0.599 1.000 0.997 0.992 895 Glycosyl_hydrolase_family_59,_central_domain . . . GALC 327 2 195 73 0.272388059701493 TRUE TRUE +ENSG00000134138.20 . BCM GRCh38.p13 chr15 37083822 37083822 + G G A Missense_Mutation SNP ENST00000561208.6 exon7 c.C703T p.P235S exonic ENSG00000134138.20 . nonsynonymous SNV ENSG00000134138.20:ENST00000561208.6:exon7:c.C703T:p.P235S 15q14 C3N-01176 . . . . . . . . . 18.20 D T D D D D M D D 0.579 D D D 0.425 0.267 0.736 2.225 D T D D D D 3.640 25.200 0.999 D D 0.753 7.933 0.820 10.757 1.000 0.707 0.725 0.492 0.714 . 6.160 6.160 10.003 1.176 0.676 1.000 1.000 0.998 836 . . . . MEIS2 242 0 154 52 0.252427184466019 TRUE TRUE +ENSG00000172828.13 . BCM GRCh38.p13 chr16 66964707 66964707 + C C T Missense_Mutation SNP ENST00000303334.9 exon6 c.C799T p.H267Y exonic ENSG00000172828.13 . nonsynonymous SNV ENSG00000172828.13:ENST00000303334.9:exon6:c.C799T:p.H267Y 16q22.1 C3N-01176 . . . . . . . . . 2.20 D D B B N N L T N 0.196 T T T 0.095 0.268 0.203 0.385 T T T T T T 0.262 3.839 0.670 N N -1.616 0.052 -1.694 0.052 1.000 0.615 0.588 0.659 0.542 . 3.950 -5.850 -1.317 -0.826 -0.978 0.000 0.000 0.000 150 Carboxylesterase,_type_B . . . CES3 131 0 89 28 0.239316239316239 TRUE TRUE +ENSG00000102974.16 . BCM GRCh38.p13 chr16 67628461 67628461 + T T A Missense_Mutation SNP ENST00000264010.10 exon9 c.T1610A p.L537H exonic ENSG00000102974.16 . nonsynonymous SNV ENSG00000102974.16:ENST00000264010.10:exon9:c.T1610A:p.L537H 16q22.1 C3N-01176 . . . . . . . . . 16.20 D D D D D D N T D 0.799 T T D 0.559 0.514 0.863 3.504 D D D D D D 4.352 30 0.987 D D 0.462 4.754 0.559 5.742 1.000 0.707 0.702 0.702 0.714 . 5.720 5.720 7.994 1.138 0.665 1.000 1.000 0.996 53 Zinc_finger_C2H2-type . . . CTCF 235 0 157 60 0.276497695852535 TRUE TRUE +ENSG00000103056.12 . BCM GRCh38.p13 chr16 68371928 68371928 + C C T Nonsense_Mutation SNP ENST00000219334.10 exon3 c.G254A p.W85X exonic ENSG00000103056.12 . stopgain ENSG00000103056.12:ENST00000219334.10:exon3:c.G254A:p.W85X 16q22.1 C3N-01176 . . . . . . . . . 5.6 . . . . D A . . . 0.697 . . . . . . . . . D D . . 6.596 36 0.993 D N 0.893 10.882 0.754 8.891 1.000 0.581 0.547 0.576 0.613 . 5.300 5.300 7.410 1.026 0.594 1.000 0.978 0.719 42 . . . . SMPD3 416 0 254 113 0.307901907356948 TRUE TRUE +ENSG00000083457.12 . BCM GRCh38.p13 chr17 3757052 3757052 + T T G Missense_Mutation SNP ENST00000263087.9 exon10 c.A1103C p.K368T exonic ENSG00000083457.12 . nonsynonymous SNV ENSG00000083457.12:ENST00000263087.9:exon10:c.A1103C:p.K368T 17p13.2 C3N-01176 . . . . . . . . . 3.19 T T B B . N L T D 0.396 T T D 0.122 0.574 0.651 0.350 T T T T T T 1.702 17.040 0.993 D N -0.603 0.982 -0.485 1.227 0.002 0.403 0.547 0.547 0.563 . 4.320 0.799 0.163 1.010 0.639 0.926 0.997 0.946 830 von_Willebrand_factor,_type_A . . . ITGAE 268 0 130 62 0.322916666666667 TRUE TRUE +ENSG00000127616.18 . BCM GRCh38.p13 chr19 11021839 11021839 + G G A Missense_Mutation SNP ENST00000344626.9 exon19 c.G2731A p.G911S exonic ENSG00000127616.18 . nonsynonymous SNV ENSG00000127616.18:ENST00000344626.9:exon19:c.G2731A:p.G911S 19p13.2 C3N-01176 . . . . . . . . . 20.20 D D D D D D H D D 0.919 D D D 0.871 0.909 0.974 3.229 D D D D D D 3.748 25.600 0.998 D D 0.936 12.030 0.749 8.768 1.000 0.707 0.702 0.702 0.714 . 4.510 4.510 10.003 1.176 0.676 1.000 0.039 0.027 509 Helicase_superfamily_1/2,_ATP-binding_domain;SNF2-related,_N-terminal_domain . . ID=COSV60798378;OCCURENCE=1(liver) SMARCA4 618 0 261 333 0.560606060606061 TRUE TRUE +ENSG00000198453.13 . BCM GRCh38.p13 chr19 36950748 36950748 + G G C Missense_Mutation SNP ENST00000333987.12 exon7 c.G1595C p.C532S exonic ENSG00000198453.13 . nonsynonymous SNV ENSG00000198453.13:ENST00000333987.12:exon7:c.G1595C:p.C532S 19q13.12 C3N-01176 . . . . . . . . . 17.20 D D D D N D H D D 0.747 D D D 0.771 0.633 0.917 0.867 T T D D D D 4.139 28.100 0.993 D D 0.746 7.813 0.590 6.098 1.000 0.554 0.588 0.602 0.492 . 3.960 3.960 9.513 1.063 0.502 1.000 0.928 0.741 662 Zinc_finger_C2H2-type . . . ZNF568 91 0 98 40 0.289855072463768 TRUE TRUE +ENSG00000269858.6 . BCM GRCh38.p13 chr19 40801224 40801224 + C C T Missense_Mutation SNP ENST00000303961.9 exon2 c.C652T p.R218C exonic ENSG00000269858.6 . nonsynonymous SNV ENSG00000269858.6:ENST00000303961.9:exon2:c.C652T:p.R218C 19q13.2 C3N-01176 8.455e-06 0 0 0 0 1.549e-05 0 0 rs140368149 10.20 D D B B D D N T D 0.464 T T D 0.110 . 0.588 1.404 T D T T D T 3.461 24.600 0.999 D D -0.113 2.135 0.026 2.451 1.000 0.722 0.672 0.699 0.639 . 4.050 4.050 0.914 1.026 0.549 0.965 1.000 0.998 508 Prolyl_4-hydroxylase,_alpha_subunit . . ID=COSV100393651;OCCURENCE=1(liver),1(upper_aerodigestive_tract) EGLN2 299 0 186 75 0.28735632183908 TRUE NA +ENSG00000101115.13 . BCM GRCh38.p13 chr20 51791696 51791696 + G G T Missense_Mutation SNP ENST00000217086.9 exon2 c.C787A p.H263N exonic ENSG00000101115.13 . nonsynonymous SNV ENSG00000101115.13:ENST00000217086.9:exon2:c.C787A:p.H263N 20q13.2 C3N-01176 . . . . . . . . . 15.20 D T D P D D M T D 0.474 D D D 0.423 0.407 0.879 0.835 T D D T D D 3.534 24.800 0.992 D D 0.869 10.276 0.819 10.708 1.000 0.672 0.574 0.702 0.542 . 5.290 5.290 7.913 1.176 0.676 1.000 0.899 0.805 973 . . . . SALL4 250 0 169 71 0.295833333333333 TRUE TRUE +ENSG00000101182.15 . BCM GRCh38.p13 chr20 62138232 62138232 + G G C Missense_Mutation SNP ENST00000370873.9 exon5 c.C530G p.T177S exonic ENSG00000101182.15 . nonsynonymous SNV ENSG00000101182.15:ENST00000370873.9:exon5:c.C530G:p.T177S 20q13.33 C3N-01176 . . . . . . . . . 6.20 T T B B D D N T N 0.509 T T T 0.168 0.339 0.537 0.846 T T T T D D 1.870 18.250 0.957 D D -0.302 1.610 -0.118 1.996 1.000 0.752 0.698 0.702 0.684 . 5.120 5.120 7.616 1.176 0.676 1.000 0.470 0.046 934 . . . . PSMA7 191 0 137 25 0.154320987654321 TRUE TRUE +ENSG00000197077.13 . BCM GRCh38.p13 chr22 25028406 25028406 + T T A Missense_Mutation SNP ENST00000358431.7 exon1 c.T407A p.F136Y exonic ENSG00000197077.13 . nonsynonymous SNV ENSG00000197077.13:ENST00000358431.7:exon1:c.T407A:p.F136Y 22q11.23 C3N-01176 . . . . . . . . . 0.19 T T B B N N L . N 0.287 T T T 0.115 0.303 0.030 . T T T T T T 1.153 13.260 0.878 N N -1.137 0.275 -1.157 0.321 0.997 0.713 0.547 0.609 0.636 . 4.810 -0.369 0.960 0.205 -0.133 0.001 0.003 0.004 923 . . . . KIAA1671 123 0 76 30 0.283018867924528 TRUE TRUE +ENSG00000100207.18 . BCM GRCh38.p13 chr22 42210147 42210147 + - NA GGT In_Frame_Ins INS ENST00000359486.7 exon1 c.5158_5159insACC p.D1719_L1720insH exonic ENSG00000100207.18 . nonframeshift insertion ENSG00000100207.18:ENST00000359486.7:exon1:c.5158_5159insACC:p.D1719_L1720insH 22q13.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCF20 NA NA NA NA NA NA NA +ENSG00000268629.8 . BCM GRCh38.p13 chrX 105220322 105220322 + C C - Frame_Shift_Del DEL ENST00000600991.6 exon2 c.76delG p.A26Pfs*25 exonic ENSG00000268629.8 . frameshift deletion ENSG00000268629.8:ENST00000600991.6:exon2:c.76delG:p.A26Pfs*25 Xq22.3 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TEX13A 43 0 17 25 0.595238095238095 NA TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149786 10149786 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon3:c.464-1G>A . . 3p25.3 C3N-01176 . . . . . . . . rs5030817 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.719 34 0.993 D . 1.042 15.306 0.842 11.486 1.000 0.257 0.272 0.172 0.120 0.966 4.580 4.580 7.779 1.176 0.676 1.000 0.995 0.783 379 . . . ID=COSV56544494;OCCURENCE=1(soft_tissue),9(kidney) VHL 553 0 186 101 0.35191637630662 TRUE TRUE +ENSG00000186472.20 . BCM GRCh38.p13 chr7 82902650 82902650 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000186472.20 ENST00000333891.14:exon9:c.13528+1G>A . . 7q21.11 C3N-01176 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.217 33 0.995 D . 1.139 19.407 1.003 19.051 0.995 0.061 0.063 0.063 0.057 0.985 5.700 5.700 5.752 1.026 0.549 1.000 1.000 0.993 868 . . . . PCLO 55 0 59 16 0.213333333333333 TRUE TRUE +ENSG00000198018.7 . BCM GRCh38.p13 chr10 99701060 99701060 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000198018.7 ENST00000370489.5:exon11:c.1421+2T>A . . 10q24.2 C3N-01176 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.665 34 0.995 D . 1.120 18.414 0.963 16.735 1.000 0.106 0.105 0.126 0.118 0.968 5.210 5.210 8.010 1.125 0.650 1.000 0.994 0.951 774 . . . . ENTPD7 135 0 105 39 0.270833333333333 TRUE TRUE +ENSG00000176887.7 . BCM GRCh38.p13 chr2 5693231 5693231 + C C G Silent SNP ENST00000322002.5 exon1 c.C510G p.L170L exonic ENSG00000176887.7 . synonymous SNV ENSG00000176887.7:ENST00000322002.5:exon1:c.C510G:p.L170L 2p25.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOX11 58 0 29 18 0.382978723404255 TRUE TRUE +ENSG00000115816.15 . BCM GRCh38.p13 chr2 37228227 37228227 + G G A Silent SNP ENST00000234170.10 exon2 c.C966T p.N322N exonic ENSG00000115816.15 . synonymous SNV ENSG00000115816.15:ENST00000234170.10:exon2:c.C966T:p.N322N 2p22.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEBPZ 245 0 138 46 0.25 TRUE TRUE +ENSG00000162881.6 . BCM GRCh38.p13 chr2 42763205 42763205 + G G A Silent SNP ENST00000378661.3 exon1 c.C975T p.S325S exonic ENSG00000162881.6 . synonymous SNV ENSG00000162881.6:ENST00000378661.3:exon1:c.C975T:p.S325S 2p21 C3N-01176 9.513e-06 0 0 0 0.0002 0 0 0 rs769126172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54311865;OCCURENCE=1(large_intestine),1(stomach) OXER1 408 0 247 97 0.281976744186047 TRUE TRUE +ENSG00000172340.14 . BCM GRCh38.p13 chr3 67609468 67609468 + A A T Silent SNP ENST00000307227.9 exon2 c.T213A p.A71A exonic ENSG00000172340.14 . synonymous SNV ENSG00000172340.14:ENST00000307227.9:exon2:c.T213A:p.A71A 3p14.1 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUCLG2 128 0 41 22 0.349206349206349 TRUE TRUE +ENSG00000111962.8 . BCM GRCh38.p13 chr6 148964464 148964464 + G G C Silent SNP ENST00000367463.5 exon5 c.G582C p.R194R exonic ENSG00000111962.8 . synonymous SNV ENSG00000111962.8:ENST00000367463.5:exon5:c.G582C:p.R194R 6q25.1 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UST 153 0 120 39 0.245283018867925 TRUE TRUE +ENSG00000112038.18 . BCM GRCh38.p13 chr6 154039670 154039670 + C C T Silent SNP ENST00000330432.12 exon1 c.C126T p.S42S exonic ENSG00000112038.18 . synonymous SNV ENSG00000112038.18:ENST00000330432.12:exon1:c.C126T:p.S42S 6q25.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OPRM1 181 0 85 39 0.314516129032258 TRUE TRUE +ENSG00000177679.16 . BCM GRCh38.p13 chr7 76281758 76281758 + G G C Silent SNP ENST00000611745.2 exon12 c.G1326C p.G442G exonic ENSG00000177679.16 . synonymous SNV ENSG00000177679.16:ENST00000611745.2:exon12:c.G1326C:p.G442G 7q11.23 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRRM3 84 0 59 22 0.271604938271605 TRUE TRUE +ENSG00000105808.18 . BCM GRCh38.p13 chr7 102595731 102595731 + G G C Silent SNP ENST00000262940.12 exon10 c.C909G p.R303R exonic ENSG00000105808.18 . synonymous SNV ENSG00000105808.18:ENST00000262940.12:exon10:c.C909G:p.R303R 7q22.1 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASA4 53 0 47 6 0.113207547169811 NA TRUE +ENSG00000136928.7 . BCM GRCh38.p13 chr9 98371545 98371545 + G G A Silent SNP ENST00000259455.4 exon12 c.C1689T p.G563G exonic ENSG00000136928.7 . synonymous SNV ENSG00000136928.7:ENST00000259455.4:exon12:c.C1689T:p.G563G 9q22.33 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABBR2 263 0 146 52 0.262626262626263 TRUE TRUE +ENSG00000166947.14 . BCM GRCh38.p13 chr15 43207239 43207239 + G G A Silent SNP ENST00000441366.6 exon9 c.C1278T p.D426D exonic ENSG00000166947.14 . synonymous SNV ENSG00000166947.14:ENST00000441366.6:exon9:c.C1278T:p.D426D 15q15.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPB42 435 0 273 112 0.290909090909091 TRUE TRUE +ENSG00000174498.14 . BCM GRCh38.p13 chr15 65329062 65329062 + C C A Silent SNP ENST00000327987.9 exon14 c.G2292T p.T764T exonic ENSG00000174498.14 . synonymous SNV ENSG00000174498.14:ENST00000327987.9:exon14:c.G2292T:p.T764T 15q22.31 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGDCC3 168 0 94 35 0.271317829457364 TRUE TRUE +ENSG00000173575.22 . BCM GRCh38.p13 chr15 93012402 93012402 + G G A Silent SNP ENST00000394196.9 exon36 c.G4650A p.K1550K exonic ENSG00000173575.22 . synonymous SNV ENSG00000173575.22:ENST00000394196.9:exon36:c.G4650A:p.K1550K 15q26.1 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD2 40 0 37 13 0.26 TRUE TRUE +ENSG00000173894.11 . BCM GRCh38.p13 chr17 79783779 79783779 + C C A Silent SNP ENST00000310942.9 exon5 c.C336A p.S112S exonic ENSG00000173894.11 . synonymous SNV ENSG00000173894.11:ENST00000310942.9:exon5:c.C336A:p.S112S 17q25.3 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53970111;OCCURENCE=1(endometrium) CBX2 373 0 258 83 0.243401759530792 TRUE TRUE +ENSG00000187323.12 . BCM GRCh38.p13 chr18 53322054 53322054 + G G A Silent SNP ENST00000442544.7 exon14 c.G2061A p.E687E exonic ENSG00000187323.12 . synonymous SNV ENSG00000187323.12:ENST00000442544.7:exon14:c.G2061A:p.E687E 18q21.2 C3N-01176 8.243e-05 0 0 0 0 0 0 0.0006 rs529691019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCC 386 0 220 67 0.233449477351916 TRUE NA +ENSG00000101003.10 . BCM GRCh38.p13 chr20 25441755 25441755 + C C A Silent SNP ENST00000262460.5 exon6 c.C501A p.V167V exonic ENSG00000101003.10 . synonymous SNV ENSG00000101003.10:ENST00000262460.5:exon6:c.C501A:p.V167V 20p11.21 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GINS1 42 1 37 6 0.13953488372093 TRUE NA +ENSG00000196090.12 . BCM GRCh38.p13 chr20 42106915 42106915 + C C A Silent SNP ENST00000373187.5 exon24 c.G3261T p.G1087G exonic ENSG00000196090.12 . synonymous SNV ENSG00000196090.12:ENST00000373187.5:exon24:c.G3261T:p.G1087G 20q12 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRT 108 0 81 31 0.276785714285714 TRUE NA +ENSG00000124203.6 . BCM GRCh38.p13 chr20 59194511 59194511 + C C A Silent SNP ENST00000637017.1 exon4 c.C3492A p.T1164T exonic ENSG00000124203.6 . synonymous SNV ENSG00000124203.6:ENST00000637017.1:exon4:c.C3492A:p.T1164T 20q13.32 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF831 85 0 54 22 0.289473684210526 TRUE TRUE +ENSG00000213923.13 . BCM GRCh38.p13 chr22 38294523 38294523 + C C A Silent SNP ENST00000396832.6 exon8 c.G897T p.R299R exonic ENSG00000213923.13;ENSG00000283900.1 . synonymous SNV ENSG00000213923.13:ENST00000396832.6:exon8:c.G897T:p.R299R,ENSG00000283900.1:ENST00000400206.7:exon12:c.G897T:p.R299R 22q13.1 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSNK1E 200 0 113 41 0.266233766233766 TRUE TRUE +ENSG00000008086.13 . BCM GRCh38.p13 chrX 18608912 18608912 + G G A Silent SNP ENST00000623535.2 exon13 c.G2046A p.E682E exonic ENSG00000008086.13 . synonymous SNV ENSG00000008086.13:ENST00000623535.2:exon13:c.G2046A:p.E682E Xp22.13 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKL5 205 0 57 62 0.521008403361345 TRUE TRUE +ENSG00000196632.10 . BCM GRCh38.p13 chrX 54248856 54248856 + A A G Silent SNP ENST00000354646.6 exon17 c.T3492C p.S1164S exonic ENSG00000196632.10 . synonymous SNV ENSG00000196632.10:ENST00000354646.6:exon17:c.T3492C:p.S1164S Xp11.22 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WNK3 96 0 34 44 0.564102564102564 TRUE TRUE +ENSG00000124490.14 . BCM GRCh38.p13 chr6 49697697 49697697 + C C T Intron SNP NA NA NA NA intronic ENSG00000124490.14 . . . 6p12.3 C3N-01176 . . . . . . . . . 0.9 . T . . . N . . . 0.117 T T . 0.003 . 0.105 . . . T T T T 0.228 3.450 0.693 N . -1.291 0.169 -1.413 0.145 0.000 0.075 0.063 0.063 0.102 0.043 3.040 -2.960 0.015 -0.106 -1.330 0.000 0.003 0.000 793 . . . . CRISP2 50 0 49 18 0.26865671641791 TRUE TRUE +ENSG00000198556.14 . BCM GRCh38.p13 chr7 99482187 99482187 + T T C Intron SNP NA NA NA NA intronic ENSG00000198556.14 . . . 7q22.1 C3N-01176 . . . . . . . . . 1.14 D T . . . N . T N 0.107 T T T 0.042 0.678 0.150 . . . T T T T 0.036 1.576 0.380 N N -1.039 0.364 -1.158 0.320 0.903 0.672 0.702 0.609 0.636 . . . -1.012 -1.010 -1.050 0.000 0.000 0.000 334 . . . ID=COSV100507890;OCCURENCE=1(stomach) ZNF789 372 0 222 60 0.212765957446809 TRUE TRUE +ENSG00000184321.1 . BCM GRCh38.p13 chr11 5403056 5403056 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000184321.1 . . . 11p15.4 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR51J1 321 0 208 65 0.238095238095238 TRUE TRUE +ENSG00000251562.8 . BCM GRCh38.p13 chr11 65505934 65505936 + CTG CTG - RNA DEL NA NA NA NA ncRNA_intronic ENSG00000251562.8 . . . 11q13.1 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 36 0 9 11 0.55 TRUE NA +ENSG00000110324.11 . BCM GRCh38.p13 chr11 117986716 117986716 + A A G Intron SNP NA NA NA NA intronic ENSG00000110324.11 . . . 11q23.3 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL10RA 689 0 533 46 0.079447322970639 TRUE NA +ENSG00000175728.4 . BCM GRCh38.p13 chr11 130673129 130673129 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000175728.4 . . . 11q24.3 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02873 326 0 189 75 0.284090909090909 TRUE NA +ENSG00000111344.11 . BCM GRCh38.p13 chr12 113108225 113108225 + G G T Intron SNP NA NA NA NA intronic ENSG00000111344.11 . . . 12q24.13 C3N-01176 . . . . . . . . . 3.14 T T . . . D . T N 0.549 T T T 0.081 0.772 0.342 0.361 . . T T T T 2.944 23.300 0.453 D D -0.367 1.456 -0.184 1.824 0.526 0.554 0.588 0.602 0.613 . 4.700 2.710 2.892 1.176 0.676 0.997 0.901 0.729 665 . . . . RASAL1 243 0 180 44 0.196428571428571 TRUE TRUE +ENSG00000182256.13 . BCM GRCh38.p13 chr15 27271560 27271560 + A A G Intron SNP NA NA NA NA intronic ENSG00000182256.13 . . . 15q12 C3N-01176 . . . . . . . . . 1.13 D T . . . N . T N . T T . 0.170 0.473 0.390 . . . T T T T -0.242 0.414 0.547 N N -1.079 0.325 -1.312 0.201 0.691 0.487 0.574 0.489 0.564 . 1.990 -2.440 -1.648 -0.684 -0.873 0.000 0.000 0.000 972 . . . . GABRG3 187 0 113 23 0.169117647058824 TRUE TRUE +ENSG00000252690.3 . BCM GRCh38.p13 chr15 82756041 82756041 + A A - RNA SNP NA NA NA NA ncRNA_exonic ENSG00000252690.3;ENSG00000277864.1 . . . 15q25.2 C3N-01176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC105339.2 33 0 39 15 0.277777777777778 TRUE NA +ENSG00000116251.11 . BCM GRCh38.p13 chr1 6197666 6197666 + C C A Missense_Mutation SNP ENST00000484532.6 exon1 c.G4T p.D2Y exonic ENSG00000116251.11;ENSG00000285629.1 . nonsynonymous SNV ENSG00000285629.1:ENST00000484532.6:exon1:c.G4T:p.D2Y,ENSG00000116251.11:ENST00000234875.9:exon2:c.G103T:p.D35Y 1p36.31 C3N-01178 . . . . . . . . . 18.20 D D D D D D M T D 0.961 D T D 0.729 0.756 0.853 2.927 D D D D D D 4.578 32 0.996 D D 0.852 9.880 0.735 8.460 1.000 0.722 0.672 0.699 0.735 . 4.230 4.230 7.777 1.026 0.549 1.000 1.000 0.998 764 . . . . RPL22 166 0 59 22 0.271604938271605 TRUE TRUE +ENSG00000085999.13 . BCM GRCh38.p13 chr1 46267484 46267484 + A A G Missense_Mutation SNP ENST00000371975.9 exon9 c.A917G p.N306S exonic ENSG00000085999.13 . nonsynonymous SNV ENSG00000085999.13:ENST00000371975.9:exon9:c.A917G:p.N306S 1p34.1 C3N-01178 8.238e-06 0 0 0 0 1.499e-05 0 0 rs770214317 9.20 T T B B D D N D D 0.891 T T T 0.380 0.431 0.930 0.107 T D D T T D 1.896 18.460 0.859 D D -0.292 1.635 -0.005 2.342 1.000 0.707 0.725 0.725 0.636 . 5.340 5.340 9.002 1.233 0.665 1.000 1.000 0.999 107 Helicase_superfamily_1/2,_ATP-binding_domain;SNF2-related,_N-terminal_domain . . . RAD54L 417 0 463 139 0.230897009966777 TRUE NA +ENSG00000162599.17 . BCM GRCh38.p13 chr1 61088233 61088233 + C C T Nonsense_Mutation SNP ENST00000403491.8 exon2 c.C112T p.R38X exonic ENSG00000162599.17 . stopgain ENSG00000162599.17:ENST00000403491.8:exon2:c.C112T:p.R38X 1p31.3 C3N-01178 . . . . . . . . . 5.6 . . . . D A . . . 0.866 . . . . . . . . . D D . . 6.503 36 0.997 D N 0.862 10.106 0.758 8.994 1.000 0.707 0.574 0.668 0.714 . 5.860 5.860 2.115 1.026 0.599 1.000 1.000 1.000 904 CTF_transcription_factor/nuclear_factor_1,_DNA-binding_domain;CTF_transcription_factor/nuclear_factor_1,_N-terminal;CTF_transcription_factor/nuclear_factor_1,_conserved_site . . ID=COSV64537221;OCCURENCE=1(liver) NFIA 159 0 69 53 0.434426229508197 TRUE TRUE +ENSG00000158125.10 . BCM GRCh38.p13 chr2 31377065 31377065 + C C G Missense_Mutation SNP ENST00000379416.4 exon14 c.G1415C p.R472T exonic ENSG00000158125.10 . nonsynonymous SNV ENSG00000158125.10:ENST00000379416.4:exon14:c.G1415C:p.R472T 2p23.1 C3N-01178 . . . . . . . . . 1.20 T T B B D N N T N 0.275 T T T 0.031 0.544 0.319 0.047 T T T T T T 0.471 6.200 0.787 N N -0.941 0.470 -0.831 0.715 0.911 0.554 0.590 0.618 0.564 . 5.700 3.180 0.281 0.045 -0.313 0.054 0.937 0.422 925 CO_dehydrogenase_flavoprotein,_C-terminal;Xanthine_dehydrogenase,_small_subunit . . . XDH 295 0 234 64 0.214765100671141 TRUE TRUE +ENSG00000180251.5 . BCM GRCh38.p13 chr2 102525063 102525063 + A A T Missense_Mutation SNP ENST00000295269.5 exon10 c.A1858T p.S620C exonic ENSG00000180251.5 . nonsynonymous SNV ENSG00000180251.5:ENST00000295269.5:exon10:c.A1858T:p.S620C 2q12.1 C3N-01178 . . . . . . . . . 6.20 T T D P N D M T N 0.596 T T D 0.244 0.305 0.513 0.398 T T T T D T 2.893 23.200 0.957 D N -0.035 2.388 -0.161 1.882 0.000 0.487 0.590 0.574 0.530 . 5.840 3.470 3.463 0.313 -0.060 0.396 0.975 0.592 555 Sodium/hydrogen_exchanger,_regulatory_region . . . SLC9A4 200 0 184 56 0.233333333333333 TRUE TRUE +ENSG00000153201.16 . BCM GRCh38.p13 chr2 108767919 108767919 + A A C Missense_Mutation SNP ENST00000283195.11 exon20 c.A7380C p.R2460S exonic ENSG00000153201.16 . nonsynonymous SNV ENSG00000153201.16:ENST00000283195.11:exon20:c.A7380C:p.R2460S 2q13 C3N-01178 . . . . . . . . . 3.19 T T P B . N M T N 0.415 T T T 0.163 0.192 0.610 1.045 T T T T D T 2.255 21.300 0.991 D N 0.036 2.641 0.106 2.757 1.000 0.707 0.725 0.644 0.714 . 5.610 4.460 3.273 1.312 0.691 1.000 1.000 0.999 852 . . . . RANBP2 623 0 191 58 0.232931726907631 NA TRUE +ENSG00000146205.14 . BCM GRCh38.p13 chr2 241210487 241210487 + T T A Missense_Mutation SNP ENST00000274979.12 exon15 c.T1640A p.L547H exonic ENSG00000146205.14 . nonsynonymous SNV ENSG00000146205.14:ENST00000274979.12:exon15:c.T1640A:p.L547H 2q37.3 C3N-01178 . . . . . . . . . 10.20 D D D D N D M T D 0.678 T T D 0.432 0.634 0.540 0.579 T T T T D T 2.724 22.900 0.977 D N 0.079 2.806 -0.138 1.942 1.000 0.487 0.574 0.578 0.563 . 3.490 3.490 4.052 0.865 0.502 0.390 0.935 0.788 994 . . . . ANO7 245 0 311 77 0.198453608247423 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149850 10149850 + G G - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.527delG p.R177Dfs*25 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.527delG:p.R177Dfs*25 3p25.3 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 458 0 314 166 0.345833333333333 TRUE TRUE +ENSG00000157119.12 . BCM GRCh38.p13 chr3 42688174 42688174 + G G A Missense_Mutation SNP ENST00000287777.5 exon2 c.G1185A p.M395I exonic ENSG00000157119.12 . nonsynonymous SNV ENSG00000157119.12:ENST00000287777.5:exon2:c.G1185A:p.M395I 3p22.1 C3N-01178 . . . . . . . . . 9.20 T T B B D D M T N 0.700 T T D 0.290 0.374 0.749 0.080 T T D T D D 3.296 24.100 0.992 D D 0.068 2.761 0.235 3.358 1.000 0.497 0.547 0.578 0.542 . 4.980 4.980 7.992 1.172 0.672 1.000 0.995 0.984 358 . . . . KLHL40 202 0 156 88 0.360655737704918 TRUE TRUE +ENSG00000114204.14 . BCM GRCh38.p13 chr3 167446408 167446408 + C C T Missense_Mutation SNP ENST00000476257.5 exon9 c.G1125A p.M375I exonic ENSG00000114204.14 . nonsynonymous SNV ENSG00000114204.14:ENST00000476257.5:exon9:c.G1125A:p.M375I 3q26.1 C3N-01178 . . . . . . . . . 1.20 T T B B N N N T N 0.302 T T T 0.165 0.470 0.174 0.178 T T T T T T 2.295 21.500 0.246 D N -0.708 0.800 -0.391 1.388 0.083 0.487 0.574 0.574 0.564 . 5.610 5.610 1.752 1.026 0.599 1.000 0.994 0.990 603 Serpin,_conserved_site;Serpin_domain . . ID=COSV104584555;OCCURENCE=2(skin) SERPINI2 57 0 27 14 0.341463414634146 TRUE TRUE +ENSG00000090534.20 . BCM GRCh38.p13 chr3 184372932 184372932 + C C T Missense_Mutation SNP ENST00000647395.1 exon6 c.G643A p.G215S exonic ENSG00000090534.20 . nonsynonymous SNV ENSG00000090534.20:ENST00000647395.1:exon6:c.G643A:p.G215S 3q27.1 C3N-01178 . . . . . . . . . 8.19 D D D P N D M T N 0.351 T T . 0.194 0.290 0.826 0.723 T T T T D T 3.464 24.600 0.993 D D 0.083 2.818 0.098 2.726 1.000 0.516 0.590 0.577 0.479 . 4.100 4.100 2.205 1.026 0.547 1.000 0.999 0.800 883 . . . . THPO 285 0 321 99 0.235714285714286 TRUE TRUE +ENSG00000176945.17 . BCM GRCh38.p13 chr3 195733183 195733183 + T T C Missense_Mutation SNP ENST00000447234.7 exon4 c.T2095C p.F699L exonic ENSG00000176945.17 . nonsynonymous SNV ENSG00000176945.17:ENST00000447234.7:exon4:c.T2095C:p.F699L 3q29 C3N-01178 . . . . . . . . . 0.20 T T B B N N N T N 0.055 T T T 0.017 0.342 0.014 . T T T T T T -0.172 0.587 0.342 N N -1.645 0.046 -1.633 0.066 0.121 0.549 0.588 0.573 0.616 . 4.060 -1.050 -0.444 -1.569 -1.753 0.000 0.000 0.002 846 . . . . MUC20 207 0 269 69 0.20414201183432 TRUE TRUE +ENSG00000169851.15 . BCM GRCh38.p13 chr4 30721777 30721777 + C C T Missense_Mutation SNP ENST00000361762.3 exon1 c.C355T p.P119S exonic ENSG00000169851.15 . nonsynonymous SNV ENSG00000169851.15:ENST00000361762.3:exon1:c.C355T:p.P119S 4p15.1 C3N-01178 . . . . . . . . . 10.19 T D D P . D M T N 0.427 T T D 0.244 0.465 0.604 . T T D T D D 4.009 27.000 0.998 D D 0.732 7.593 0.720 8.148 1.000 0.652 0.563 0.641 0.373 . 5.240 5.240 7.788 1.014 0.596 1.000 1.000 0.999 496 Cadherin-like . . . PCDH7 149 0 186 50 0.211864406779661 TRUE TRUE +ENSG00000113597.18 . BCM GRCh38.p13 chr5 65664353 65664355 + TTA TTA - In_Frame_Del DEL ENST00000399438.8 exon12 c.1115_1117del p.L372_T373delinsP exonic ENSG00000113597.18 . nonframeshift deletion ENSG00000113597.18:ENST00000399438.8:exon12:c.1115_1117del:p.L372_T373delinsP 5q12.3 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAPPC13 163 0 62 27 0.303370786516854 TRUE TRUE +ENSG00000069020.18 . BCM GRCh38.p13 chr5 66596999 66596999 + A A G Missense_Mutation SNP ENST00000403625.6 exon1 c.A344G p.Q115R exonic ENSG00000069020.18 . nonsynonymous SNV ENSG00000069020.18:ENST00000403625.6:exon1:c.A344G:p.Q115R 5q12.3 C3N-01178 . . . . . . . . . 6.20 D T D P U N N T N 0.090 T T D 0.107 0.115 0.776 0.547 D T T T D T 3.409 24.400 0.994 D N -0.019 2.445 0.008 2.386 1.000 0.455 0.609 0.607 0.555 . 3.700 3.700 0.673 1.099 0.564 0.992 1.000 0.996 925 . . . . MAST4 83 0 102 32 0.238805970149254 TRUE TRUE +ENSG00000146013.11 . BCM GRCh38.p13 chr5 138259559 138259559 + G G T Missense_Mutation SNP ENST00000274721.8 exon3 c.C470A p.P157Q exonic ENSG00000146013.11 . nonsynonymous SNV ENSG00000146013.11:ENST00000274721.8:exon3:c.C470A:p.P157Q 5q31.2 C3N-01178 . . . . . . . . . 9.20 D T D D D D L T D 0.264 T T T 0.132 0.314 0.602 1.756 T T T T D T 3.951 26.700 0.993 D D 0.469 4.800 0.530 5.448 0.279 0.646 0.588 0.645 0.613 . 5.380 5.380 5.375 1.176 0.676 1.000 1.000 0.996 258 . . . . GFRA3 149 0 207 49 0.19140625 TRUE NA +ENSG00000166984.12 . BCM GRCh38.p13 chr6 167177036 167177037 + GC GC - Nonsense_Mutation DEL ENST00000366832.7 exon4 c.400_401del p.A134* exonic ENSG00000166984.12 . stopgain ENSG00000166984.12:ENST00000366832.7:exon4:c.400_401del:p.A134* 6q27 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCP10L2 342 0 238 23 0.0881226053639847 NA TRUE +ENSG00000164542.12 . BCM GRCh38.p13 chr7 36331042 36331042 + A A - Frame_Shift_Del DEL ENST00000297063.10 exon6 c.1344delT p.L449Ffs*10 exonic ENSG00000164542.12 . frameshift deletion ENSG00000164542.12:ENST00000297063.10:exon6:c.1344delT:p.L449Ffs*10 7p14.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA0895 158 0 62 30 0.326086956521739 TRUE TRUE +ENSG00000166924.9 . BCM GRCh38.p13 chr7 100488900 100488900 + C C A Missense_Mutation SNP ENST00000300179.7 exon4 c.C1179A p.N393K exonic ENSG00000166924.9 . nonsynonymous SNV ENSG00000166924.9:ENST00000300179.7:exon4:c.C1179A:p.N393K 7q22.1 C3N-01178 . . . . . . . . . 7.20 D T D D N D L T N 0.370 T T T 0.042 0.224 0.082 0.309 D T T T D T 2.006 19.300 0.997 D N 0.145 3.067 0.184 3.108 1.000 0.646 0.547 0.645 0.563 . 4.200 3.220 0.730 0.962 0.524 0.982 1.000 0.999 365 Neuronal_tyrosine-phosphorylated_phosphoinositide-3-kinase_adapter,_N-terminal . . . NYAP1 52 0 66 22 0.25 TRUE TRUE +ENSG00000136895.19 . BCM GRCh38.p13 chr9 127365355 127365355 + T T G Missense_Mutation SNP ENST00000373387.9 exon22 c.T2150G p.L717W exonic ENSG00000136895.19 . nonsynonymous SNV ENSG00000136895.19:ENST00000373387.9:exon22:c.T2150G:p.L717W 9q33.3 C3N-01178 . . . . . . . . . 16.20 D D D D D D M T D 0.780 T T D 0.575 0.706 0.513 1.620 D T D D D D 4.381 31 0.962 D D 0.740 7.720 0.716 8.065 1.000 0.744 0.634 0.630 0.639 . 5.480 5.480 7.452 1.134 0.661 1.000 0.979 0.987 504 Citron_homology_(CNH)_domain . . . GARNL3 191 0 133 38 0.222222222222222 TRUE TRUE +ENSG00000204130.13 . BCM GRCh38.p13 chr10 68401626 68401626 + C C T Missense_Mutation SNP ENST00000602465.5 exon3 c.G290A p.G97D exonic ENSG00000204130.13 . nonsynonymous SNV ENSG00000204130.13:ENST00000602465.5:exon3:c.G290A:p.G97D 10q21.3 C3N-01178 . . . . . . . . . 11.18 D D D D D D . T N 0.765 T T T 0.176 0.390 0.539 0.644 D . T T D D 3.659 25.300 0.999 D D 0.709 7.252 0.704 7.823 1.000 0.707 0.546 0.659 0.714 . 5.190 5.190 6.095 1.026 0.599 1.000 1.000 0.983 908 RUN_domain . . . RUFY2 132 0 61 15 0.197368421052632 TRUE TRUE +ENSG00000006071.15 . BCM GRCh38.p13 chr11 17476659 17476659 + G G C Missense_Mutation SNP ENST00000389817.8 exon1 c.C118G p.L40V exonic ENSG00000006071.15 . nonsynonymous SNV ENSG00000006071.15:ENST00000389817.8:exon1:c.C118G:p.L40V 11p15.1 C3N-01178 . . . . . . . . . 16.20 D D P B D D M D N 0.682 D D D 0.624 0.338 0.929 0.381 D T D D D D 3.132 23.700 0.998 D D 0.336 3.968 0.327 3.877 1.000 0.598 0.590 0.666 0.639 . 4.270 3.090 3.972 1.162 0.658 1.000 1.000 0.995 733 . . . . ABCC8 203 0 217 60 0.216606498194946 TRUE TRUE +ENSG00000175213.3 . BCM GRCh38.p13 chr11 46704910 46704910 + C C T Missense_Mutation SNP ENST00000311764.3 exon5 c.C1210T p.R404C exonic ENSG00000175213.3 . nonsynonymous SNV ENSG00000175213.3:ENST00000311764.3:exon5:c.C1210T:p.R404C 11p11.2 C3N-01178 . . . . . . . . . 9.20 D D D D D D L T N 0.737 T T T 0.174 0.555 0.454 0.874 T T T T D D 3.442 24.500 0.999 D N 0.378 4.209 0.313 3.795 0.992 0.672 0.698 0.702 0.636 . 5.570 4.600 0.318 1.026 0.599 0.003 0.997 0.407 26 Zinc_finger_C2H2-type . . ID=COSV61239620;OCCURENCE=1(large_intestine) ZNF408 91 0 130 40 0.235294117647059 TRUE TRUE +ENSG00000137522.18 . BCM GRCh38.p13 chr11 71982761 71982761 + A A T Missense_Mutation SNP ENST00000361756.8 exon4 c.A244T p.M82L exonic ENSG00000137522.18 . nonsynonymous SNV ENSG00000137522.18:ENST00000361756.8:exon4:c.A244T:p.M82L 11q13.4 C3N-01178 . . . . . . . . . 4.20 T T B B D D N T N 0.320 T T T 0.220 0.364 0.151 0.313 T T T T D T 2.640 22.700 0.745 D N -0.210 1.850 0.020 2.429 1.000 0.707 0.725 0.607 0.714 . 5.190 5.190 2.545 1.312 0.691 1.000 1.000 1.000 631 . . . ID=COSV62318024;OCCURENCE=1(kidney) RNF121 50 0 37 18 0.327272727272727 TRUE TRUE +ENSG00000137673.9 . BCM GRCh38.p13 chr11 102527939 102527939 + - NA T Frame_Shift_Ins INS ENST00000260227.5 exon2 c.152dupA p.N51Kfs*51 exonic ENSG00000137673.9 . frameshift insertion ENSG00000137673.9:ENST00000260227.5:exon2:c.152dupA:p.N51Kfs*51 11q22.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP7 NA NA NA NA NA NA NA +ENSG00000167535.8 . BCM GRCh38.p13 chr12 48825239 48825239 + A A G Missense_Mutation SNP ENST00000301050.7 exon7 c.A569G p.Y190C exonic ENSG00000167535.8 . nonsynonymous SNV ENSG00000167535.8:ENST00000301050.7:exon7:c.A569G:p.Y190C 12q13.12 C3N-01178 . . . . . . . . . 19.20 D D D D D D M D D 0.955 D D D 0.884 0.698 0.971 1.438 D T D D D D 4.437 31 0.998 D D 0.950 12.408 0.887 13.219 1.000 0.707 0.588 0.723 0.714 . 5.590 5.590 9.279 1.312 0.756 1.000 0.992 0.989 598 Guanylate_kinase/L-type_calcium_channel_beta_subunit . . . CACNB3 116 0 120 43 0.263803680981595 TRUE TRUE +ENSG00000120868.14 . BCM GRCh38.p13 chr12 98732526 98732526 + A A G Missense_Mutation SNP ENST00000551964.6 exon27 c.A3707G p.D1236G exonic ENSG00000120868.14 . nonsynonymous SNV ENSG00000120868.14:ENST00000551964.6:exon27:c.A3707G:p.D1236G 12q23.1 C3N-01178 . . . . . . . . . 18.20 D D D D D D M T D 0.949 D D D 0.703 0.597 0.911 1.038 T D D D D D 4.371 31 0.999 D D 0.762 8.089 0.766 9.185 1.000 0.651 0.709 0.602 0.684 . 5.960 5.960 8.231 1.312 0.756 1.000 1.000 0.997 875 . . . . APAF1 193 0 80 21 0.207920792079208 TRUE TRUE +ENSG00000061936.9 . BCM GRCh38.p13 chr12 131726961 131726961 + A A G Missense_Mutation SNP ENST00000261674.8 exon6 c.A854G p.N285S exonic ENSG00000061936.9 . nonsynonymous SNV ENSG00000061936.9:ENST00000261674.8:exon6:c.A854G:p.N285S 12q24.33 C3N-01178 . . . . . . . . . 2.20 T T B B N N L T N 0.054 T T T 0.058 0.250 0.361 0.662 T T T T T D 1.801 17.740 0.249 D N -0.322 1.561 -0.192 1.806 0.994 0.732 0.744 0.725 0.714 . 5.330 4.190 5.517 1.214 0.756 1.000 0.901 0.963 982 . . . . SFSWAP 193 0 87 15 0.147058823529412 NA TRUE +ENSG00000198805.12 . BCM GRCh38.p13 chr14 20474516 20474516 + A A G Missense_Mutation SNP ENST00000361505.10 exon3 c.A226G p.R76G exonic ENSG00000198805.12 . nonsynonymous SNV ENSG00000198805.12:ENST00000361505.10:exon3:c.A226G:p.R76G 14q11.2 C3N-01178 . . . . . . . . . 8.20 D T B B N D M D D 0.349 T D D 0.324 0.648 0.828 0.387 T T T T T D 1.492 15.690 0.994 N N -0.487 1.203 -0.441 1.301 0.998 0.672 0.702 0.702 0.711 . 5.960 3.450 0.822 0.269 0.756 0.000 0.456 0.339 958 Nucleoside_phosphorylase_domain . . . PNP 271 0 311 102 0.246973365617433 TRUE TRUE +ENSG00000092096.17 . BCM GRCh38.p13 chr14 23351754 23351754 + G G T Missense_Mutation SNP ENST00000397267.5 exon3 c.C369A p.D123E exonic ENSG00000092096.17 . nonsynonymous SNV ENSG00000092096.17:ENST00000397267.5:exon3:c.C369A:p.D123E 14q11.2 C3N-01178 . . . . . . . . . 16.20 D D D D N D M T D 0.796 D D D 0.748 0.896 0.110 0.551 T D D D D T 3.552 24.900 0.997 D D 0.531 5.284 0.474 4.929 1.000 0.726 0.563 0.594 0.621 . 3.570 3.570 6.109 1.176 0.676 1.000 1.000 0.999 547 Major_facilitator_superfamily_domain;Sugar_transporter,_conserved_site . . . SLC22A17 104 0 112 33 0.227586206896552 TRUE TRUE +ENSG00000165934.13 . BCM GRCh38.p13 chr14 92143277 92143277 + A A T Nonsense_Mutation SNP ENST00000298875.9 exon9 c.A1123T p.K375X exonic ENSG00000165934.13 . stopgain ENSG00000165934.13:ENST00000298875.9:exon9:c.A1123T:p.K375X 14q32.12 C3N-01178 . . . . . . . . . 5.6 . . . . D A . . . 0.406 . . . . . . . . . D D . . 8.110 41 0.996 D N 0.832 9.431 0.703 7.808 0.998 0.707 0.725 0.725 0.714 . 4.990 4.990 6.766 1.312 0.691 1.000 1.000 1.000 884 . . . . CPSF2 82 0 41 4 0.0888888888888889 NA TRUE +ENSG00000183484.12 . BCM GRCh38.p13 chr14 105051704 105051704 + C C A Missense_Mutation SNP ENST00000329797.8 exon4 c.G433T p.V145L exonic ENSG00000183484.12 . nonsynonymous SNV ENSG00000183484.12:ENST00000329797.8:exon4:c.G433T:p.V145L 14q32.33 C3N-01178 . . . . . . . . rs376184785 9.20 D T D P N D M T N 0.473 T T D 0.247 0.618 0.817 1.187 T D T T D T 3.264 24.000 0.994 D D 0.393 4.300 0.308 3.766 0.999 0.672 0.702 0.578 0.613 . 4.830 3.720 3.178 0.929 0.599 1.000 0.241 0.394 982 GPCR,_rhodopsin-like,_7TM . . . GPR132 123 0 160 52 0.245283018867925 TRUE NA +ENSG00000166963.13 . BCM GRCh38.p13 chr15 43523919 43523919 + G G T Missense_Mutation SNP ENST00000300231.6 exon4 c.G2446T p.V816L exonic ENSG00000166963.13 . nonsynonymous SNV ENSG00000166963.13:ENST00000300231.6:exon4:c.G2446T:p.V816L 15q15.3 C3N-01178 . . . . . . . . . 7.20 D T P P N D M T N 0.507 T T T 0.080 0.192 0.093 0.740 T T T T D D 3.297 24.100 0.993 D D 0.523 5.223 0.540 5.542 1.000 0.624 0.590 0.590 0.580 . 5.040 5.040 4.177 1.176 0.676 1.000 0.996 0.965 19 . . . . MAP1A 169 0 199 59 0.228682170542636 TRUE TRUE +ENSG00000069956.12 . BCM GRCh38.p13 chr15 52064054 52064054 + A A G Missense_Mutation SNP ENST00000261845.7 exon6 c.A1220G p.E407G exonic ENSG00000069956.12 . nonsynonymous SNV ENSG00000069956.12:ENST00000261845.7:exon6:c.A1220G:p.E407G 15q21.2 C3N-01178 . . . . . . . . . 13.20 D D B B D D M T D 0.662 T T D 0.315 0.235 0.656 0.114 T D D T D D 3.432 24.500 0.999 D D 0.159 3.126 0.306 3.753 1.000 0.707 0.702 0.725 0.714 . 5.260 4.120 8.700 1.273 0.751 1.000 0.998 1.000 266 . . . . MAPK6 52 0 9 8 0.470588235294118 NA TRUE +ENSG00000156232.7 . BCM GRCh38.p13 chr15 82830882 82830882 + C C A Missense_Mutation SNP ENST00000286760.5 exon9 c.C1925A p.P642H exonic ENSG00000156232.7 . nonsynonymous SNV ENSG00000156232.7:ENST00000286760.5:exon9:c.C1925A:p.P642H 15q25.2 C3N-01178 . . . . . . . . . 7.20 D D D D D N N T D 0.329 T T T 0.074 0.261 0.471 0.262 T T T T D T 1.996 19.230 0.993 N N -0.211 1.845 -0.433 1.314 1.000 0.563 0.577 0.602 0.636 . 4.990 1.980 0.921 0.125 -0.257 0.002 0.006 0.039 . . . . . WHAMM 257 0 268 87 0.245070422535211 TRUE TRUE +ENSG00000185551.15 . BCM GRCh38.p13 chr15 96334339 96334339 + - NA TGCA Frame_Shift_Ins INS ENST00000394166.8 exon2 c.706_707insTGCA p.Q237Hfs*73 exonic ENSG00000185551.15 . frameshift insertion ENSG00000185551.15:ENST00000394166.8:exon2:c.706_707insTGCA:p.Q237Hfs*73 15q26.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NR2F2 NA NA NA NA NA NA NA +ENSG00000167972.14 . BCM GRCh38.p13 chr16 2300015 2300015 + T T C Missense_Mutation SNP ENST00000301732.10 exon13 c.A1601G p.H534R exonic ENSG00000167972.14 . nonsynonymous SNV ENSG00000167972.14:ENST00000301732.10:exon13:c.A1601G:p.H534R 16p13.3 C3N-01178 . . . . . . . . . 14.20 D T B B D D N D D 0.442 D D D 0.446 0.526 0.915 0.287 T D D D D D 2.914 23.200 0.967 D N -0.027 2.418 0.095 2.714 1.000 0.732 0.670 0.571 0.728 . 5.910 5.910 4.320 1.138 0.665 1.000 0.994 0.973 624 ABC_transporter-like . . . ABCA3 314 1 350 142 0.288617886178862 TRUE TRUE +ENSG00000184828.10 . BCM GRCh38.p13 chr18 48040657 48040657 + C C T Missense_Mutation SNP ENST00000590800.6 exon4 c.G451A p.E151K exonic ENSG00000184828.10 . nonsynonymous SNV ENSG00000184828.10:ENST00000590800.6:exon4:c.G451A:p.E151K 18q21.1 C3N-01178 . . . . . . . . . 5.20 T T B B N D L T N 0.480 T T T 0.073 0.191 0.043 0.651 T T T T D D 1.886 18.380 0.997 D D -0.167 1.971 0.006 2.381 1.000 0.516 0.610 0.602 0.564 . 5.260 5.260 7.378 0.962 0.524 1.000 0.017 0.029 901 . . . . ZBTB7C 93 0 87 36 0.292682926829268 TRUE TRUE +ENSG00000175221.15 . BCM GRCh38.p13 chr19 880121 880121 + C C T Missense_Mutation SNP ENST00000325464.6 exon8 c.G1169A p.S390N exonic ENSG00000175221.15 . nonsynonymous SNV ENSG00000175221.15:ENST00000325464.6:exon8:c.G1169A:p.S390N 19p13.3 C3N-01178 . . . . . . . . . 7.20 T T B B D D L T N 0.743 T T D 0.049 0.460 0.367 . T T T T D D 1.725 17.200 0.994 D D -0.154 2.010 -0.002 2.351 0.870 0.672 0.644 0.607 0.711 . 4.240 4.240 5.418 1.026 0.599 1.000 0.786 0.130 994 . . . . MED16 147 0 211 73 0.257042253521127 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8937426 8937426 + G G A Missense_Mutation SNP ENST00000397910.8 exon5 c.C33529T p.P11177S exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon5:c.C33529T:p.P11177S 19p13.2 C3N-01178 . . . . . . . . rs950027319 0.15 T T . . . N . T N 0.118 T T T 0.082 0.131 0.048 . T . T T T T -0.011 1.266 0.246 N N -1.009 0.394 -1.190 0.292 0.000 0.554 0.574 0.618 0.564 . 3.590 -3.300 -1.016 1.056 -0.176 0.000 0.012 0.022 923 . . . . MUC16 277 0 125 32 0.203821656050955 TRUE NA +ENSG00000130433.7 . BCM GRCh38.p13 chr19 53992930 53992930 + C C T Missense_Mutation SNP ENST00000252729.6 exon1 c.C53T p.A18V exonic ENSG00000130433.7 . nonsynonymous SNV ENSG00000130433.7:ENST00000252729.6:exon1:c.C53T:p.A18V 19q13.42 C3N-01178 . . . . . . . . . 0.20 T T B B N N L T N 0.092 T T T 0.025 0.276 0.243 0.480 T T T T T T 1.232 13.880 0.991 N N -0.999 0.405 -0.986 0.507 1.000 0.609 0.578 0.596 0.506 . 2.670 -0.110 0.117 0.090 0.455 0.000 0.141 0.937 994 . . . . CACNG6 16 0 28 12 0.3 TRUE TRUE +ENSG00000088367.23 . BCM GRCh38.p13 chr20 36178625 36178632 + TTTAGAAC TTTAGAAC - In_Frame_Del DEL ENST00000338074.7 exon5 c.448_450del p.N150del exonic ENSG00000088367.23 . nonframeshift deletion ENSG00000088367.23:ENST00000338074.7:exon5:c.448_450del:p.N150del 20q11.23 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPB41L1 330 0 313 77 0.197435897435897 TRUE TRUE +ENSG00000130703.17 . BCM GRCh38.p13 chr20 62263666 62263666 + C C A Missense_Mutation SNP ENST00000313733.9 exon4 c.C233A p.T78N exonic ENSG00000130703.17 . nonsynonymous SNV ENSG00000130703.17:ENST00000313733.9:exon4:c.C233A:p.T78N 20q13.33 C3N-01178 . . . . . . . . . 5.20 T T B B D D N T N 0.430 T T T 0.076 0.587 0.068 0.765 T T T T D D 2.744 22.900 0.976 D N -0.450 1.277 -0.279 1.609 1.000 0.707 0.725 0.725 0.714 . 4.700 3.750 6.333 0.082 0.549 1.000 0.882 0.970 835 . . . . OSBPL2 246 0 283 55 0.162721893491124 TRUE TRUE +ENSG00000183530.14 . BCM GRCh38.p13 chr22 31716388 31716388 + T T G Missense_Mutation SNP ENST00000327423.11 exon4 c.A1451C p.Q484P exonic ENSG00000183530.14 . nonsynonymous SNV ENSG00000183530.14:ENST00000327423.11:exon4:c.A1451C:p.Q484P 22q12.2 C3N-01178 . . . . . . . . . 3.20 D T D P N N L T N 0.502 T T D 0.132 0.290 0.258 0.401 T T T T T T 1.841 18.040 0.779 N N -0.426 1.327 -0.589 1.062 0.181 0.563 0.654 0.609 0.636 . 5.400 3.260 0.834 1.138 0.665 0.005 0.103 0.121 155 . . . . PRR14L 103 0 30 5 0.142857142857143 TRUE TRUE +ENSG00000165164.14 . BCM GRCh38.p13 chrX 36367011 36367011 + G G T Missense_Mutation SNP ENST00000378653.8 exon62 c.G9069T p.W3023C exonic ENSG00000165164.14 . nonsynonymous SNV ENSG00000165164.14:ENST00000378653.8:exon62:c.G9069T:p.W3023C Xp21.1 C3N-01178 . . . . . . . . . 8.11 . D . . D D . . . 0.441 T T D 0.576 . 0.863 . . . D D D T 3.697 25.400 0.958 D . . . . . 0.951 . . . . . 5.330 5.330 6.874 1.006 0.616 1.000 0.020 0.420 789 . . . . CFAP47 124 0 44 19 0.301587301587302 TRUE NA +ENSG00000101901.12 . BCM GRCh38.p13 chrX 111744778 111744778 + C C T Missense_Mutation SNP ENST00000394780.8 exon24 c.C2806T p.P936S exonic ENSG00000101901.12 . nonsynonymous SNV ENSG00000101901.12:ENST00000394780.8:exon24:c.C2806T:p.P936S Xq23 C3N-01178 . . . . . . . . . 2.18 T D P B . N N T N 0.324 T T D 0.117 0.473 0.679 0.214 T T T T T T 0.200 3.129 0.609 N . . . . . 0.002 . . . . . 1.120 0.102 0.322 0.525 0.233 0.000 0.001 0.029 799 . . . . ALG13 112 0 98 28 0.222222222222222 TRUE TRUE +ENSG00000085185.15 . BCM GRCh38.p13 chrX 130050794 130050794 + G G A Missense_Mutation SNP ENST00000540052.5 exon10 c.G4696A p.E1566K exonic ENSG00000085185.15 . nonsynonymous SNV ENSG00000085185.15:ENST00000540052.5:exon10:c.G4696A:p.E1566K Xq26.1 C3N-01178 . . . . . . . . . 8.16 D D . . N D . T D 0.517 T T D 0.174 0.450 0.462 0.558 T T T T D D 5.730 34 0.999 D . . . . . 1.000 . . . . . 5.630 5.630 9.397 1.176 0.676 1.000 0.999 0.994 428 . . . . BCORL1 144 0 121 35 0.224358974358974 TRUE TRUE +ENSG00000132716.19 . BCM GRCh38.p13 chr1 160218429 160218429 + C C T Silent SNP ENST00000368074.6 exon13 c.G1572A p.K524K exonic ENSG00000132716.19 . synonymous SNV ENSG00000132716.19:ENST00000368074.6:exon13:c.G1572A:p.K524K 1q23.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCAF8 161 0 108 30 0.217391304347826 TRUE TRUE +ENSG00000152076.18 . BCM GRCh38.p13 chr2 130139575 130139575 + G G A Silent SNP ENST00000310463.10 exon8 c.C1123T p.L375L exonic ENSG00000152076.18 . synonymous SNV ENSG00000152076.18:ENST00000310463.10:exon8:c.C1123T:p.L375L 2q21.1 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC74B 101 0 130 57 0.304812834224599 NA TRUE +ENSG00000115648.14 . BCM GRCh38.p13 chr2 237493534 237493534 + A A G Silent SNP ENST00000264605.8 exon2 c.A108G p.L36L exonic ENSG00000115648.14 . synonymous SNV ENSG00000115648.14:ENST00000264605.8:exon2:c.A108G:p.L36L 2q37.3 C3N-01178 2.472e-05 0 8.649e-05 0 0 0 0 0.0001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MLPH 355 0 380 91 0.193205944798301 TRUE NA +ENSG00000144619.15 . BCM GRCh38.p13 chr3 3034666 3034666 + C C T Silent SNP ENST00000418658.6 exon17 c.C1818T p.D606D exonic ENSG00000144619.15 . synonymous SNV ENSG00000144619.15:ENST00000418658.6:exon17:c.C1818T:p.D606D 3p26.2 C3N-01178 0.0002 9.612e-05 0 0.0020 0 8.996e-05 0 6.057e-05 rs185066001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61870369;OCCURENCE=1(central_nervous_system) CNTN4 277 0 170 85 0.333333333333333 TRUE TRUE +ENSG00000112659.14 . BCM GRCh38.p13 chr6 43186974 43186974 + G G A Silent SNP ENST00000252050.9 exon5 c.G1266A p.S422S exonic ENSG00000112659.14 . synonymous SNV ENSG00000112659.14:ENST00000252050.9:exon5:c.G1266A:p.S422S 6p21.1 C3N-01178 2.476e-05 0 0 0 0 0 0 0.0002 rs767726918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52734096;OCCURENCE=1(oesophagus) CUL9 96 0 107 37 0.256944444444444 TRUE TRUE +ENSG00000198742.9 . BCM GRCh38.p13 chr7 99047690 99047690 + G G T Silent SNP ENST00000361125.1 exon11 c.C1224A p.I408I exonic ENSG00000198742.9 . synonymous SNV ENSG00000198742.9:ENST00000361125.1:exon11:c.C1224A:p.I408I 7q22.1 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMURF1 191 0 196 71 0.265917602996255 TRUE TRUE +ENSG00000128607.14 . BCM GRCh38.p13 chr7 130120849 130120849 + G G A Silent SNP ENST00000335420.10 exon4 c.G576A p.K192K exonic ENSG00000128607.14 . synonymous SNV ENSG00000128607.14:ENST00000335420.10:exon4:c.G576A:p.K192K 7q32.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHDC10 225 0 136 31 0.18562874251497 TRUE NA +ENSG00000156049.7 . BCM GRCh38.p13 chr9 77431443 77431443 + C C T Silent SNP ENST00000341700.7 exon4 c.G471A p.L157L exonic ENSG00000156049.7 . synonymous SNV ENSG00000156049.7:ENST00000341700.7:exon4:c.G471A:p.L157L 9q21.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GNA14 64 0 79 20 0.202020202020202 TRUE TRUE +ENSG00000119397.16 . BCM GRCh38.p13 chr9 121159013 121159013 + C C T Silent SNP ENST00000373855.5 exon31 c.C4923T p.H1641H exonic ENSG00000119397.16 . synonymous SNV ENSG00000119397.16:ENST00000373855.5:exon31:c.C4923T:p.H1641H 9q33.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTRL 88 0 60 21 0.259259259259259 TRUE TRUE +ENSG00000148408.13 . BCM GRCh38.p13 chr9 137882746 137882746 + C C T Silent SNP ENST00000371372.6 exon3 c.C393T p.D131D exonic ENSG00000148408.13 . synonymous SNV ENSG00000148408.13:ENST00000371372.6:exon3:c.C393T:p.D131D 9q34.3 C3N-01178 1.656e-05 0.0002 0 0 0 0 0 0 rs774589225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53113802;OCCURENCE=2(breast),1(stomach),1(pancreas),1(prostate) CACNA1B 94 0 123 44 0.263473053892216 TRUE TRUE +ENSG00000069431.11 . BCM GRCh38.p13 chr12 21838092 21838092 + G G T Silent SNP ENST00000261201.8 exon28 c.C3552A p.T1184T exonic ENSG00000069431.11 . synonymous SNV ENSG00000069431.11:ENST00000261201.8:exon28:c.C3552A:p.T1184T 12p12.1 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCC9 400 0 209 46 0.180392156862745 TRUE TRUE +ENSG00000139289.13 . BCM GRCh38.p13 chr12 76031661 76031661 + C C A Silent SNP ENST00000266671.9 exon1 c.G81T p.P27P exonic ENSG00000139289.13 . synonymous SNV ENSG00000139289.13:ENST00000266671.9:exon1:c.G81T:p.P27P 12q21.2 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHLDA1 28 0 32 20 0.384615384615385 TRUE NA +ENSG00000197653.16 . BCM GRCh38.p13 chr12 123935379 123935379 + C C T Silent SNP ENST00000638045.1 exon78 c.C13314T p.N4438N exonic ENSG00000197653.16 . synonymous SNV ENSG00000197653.16:ENST00000638045.1:exon78:c.C13314T:p.N4438N 12q24.31 C3N-01178 1.656e-05 0.0001 0 0 0 1.498e-05 0 0 rs750482067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99435965;OCCURENCE=1(large_intestine) DNAH10 136 0 138 39 0.220338983050847 TRUE NA +ENSG00000213471.10 . BCM GRCh38.p13 chr15 90256210 90256210 + C C T Silent SNP ENST00000438251.3 exon6 c.C618T p.G206G exonic ENSG00000213471.10 . synonymous SNV ENSG00000213471.10:ENST00000438251.3:exon6:c.C618T:p.G206G 15q26.1 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTLL13P 195 0 222 44 0.165413533834586 TRUE NA +ENSG00000266074.8 . BCM GRCh38.p13 chr17 81460972 81460972 + G G A Silent SNP ENST00000584436.7 exon27 c.G6402A p.Q2134Q exonic ENSG00000266074.8 . synonymous SNV ENSG00000266074.8:ENST00000584436.7:exon27:c.G6402A:p.Q2134Q 17q25.3 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAHCC1 217 0 226 71 0.239057239057239 TRUE TRUE +ENSG00000000005.6 . BCM GRCh38.p13 chrX 100585332 100585332 + C C T Silent SNP ENST00000373031.5 exon2 c.C150T p.S50S exonic ENSG00000000005.6 . synonymous SNV ENSG00000000005.6:ENST00000373031.5:exon2:c.C150T:p.S50S Xq22.1 C3N-01178 . . . . . . . . rs890963920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNMD 141 0 64 13 0.168831168831169 TRUE NA +ENSG00000236446.3 . BCM GRCh38.p13 chrX 120875479 120875479 + C C T Silent SNP ENST00000371311.4 exon1 c.G192A p.E64E exonic ENSG00000236446.3 . synonymous SNV ENSG00000236446.3:ENST00000371311.4:exon1:c.G192A:p.E64E Xq24 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64890782;OCCURENCE=1(skin) CT47B1 528 0 657 155 0.190886699507389 NA TRUE +ENSG00000172493.21 . BCM GRCh38.p13 chr4 87047597 87047597 + G G T Intron SNP NA NA NA NA intronic ENSG00000172493.21 . . . 4q21.3 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AFF1 313 0 229 53 0.187943262411348 TRUE NA +ENSG00000009413.16 . BCM GRCh38.p13 chr6 111308188 111308188 + A A T Intron SNP NA NA NA NA intronic ENSG00000009413.16 . . . 6q21 C3N-01178 . . . . . . . . . 0.6 . T . . . N . . . . . . . . . 0.068 . . . T T . T 0.041 1.610 0.685 N . . . . . 0.043 0.106 0.106 0.060 0.099 0.047 0.158 0.158 -0.595 0.338 0.298 0.003 0.048 0.065 638 . . . . REV3L 50 1 23 4 0.148148148148148 TRUE NA +ENSG00000256925.3 . BCM GRCh38.p13 chr10 133084926 133084926 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000256925.3 . . . 10q26.3 C3N-01178 0.0002 0.0001 0.0003 0.0011 0 0 0 0.0004 rs202036000 2.14 . D B B U . . . . 0.127 T T D 0.011 0.254 0.043 . T . T T T T -0.349 0.245 0.610 N N -1.739 0.031 -1.881 0.024 0.000 0.057 0.063 0.074 0.079 . 0.891 -1.780 -1.112 -0.704 -0.831 0.000 0.000 0.000 981 . . . ID=COSV100811029;OCCURENCE=1(breast) ADGRA1-AS1 314 0 391 133 0.25381679389313 TRUE NA +ENSG00000120820.12 . BCM GRCh38.p13 chr12 104012819 104012819 + T T C Intron SNP NA NA NA NA intronic ENSG00000120820.12 . . . 12q23.3 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLT8D2 77 0 74 19 0.204301075268817 TRUE TRUE +ENSG00000186919.13 . BCM GRCh38.p13 chr17 76080878 76080878 + A A G Intron SNP NA NA NA NA intronic ENSG00000186919.13 . . . 17q25.1 C3N-01178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZACN 70 0 74 22 0.229166666666667 TRUE NA +ENSG00000162571.14 . BCM GRCh38.p13 chr1 1197659 1197659 + C C A Missense_Mutation SNP ENST00000379289.6 exon16 c.C1834A p.P612T exonic ENSG00000162571.14 . nonsynonymous SNV ENSG00000162571.14:ENST00000379289.6:exon16:c.C1834A:p.P612T 1p36.33 C3N-01179 . . . . . . . . . 1.19 T D B B . N N T N 0.124 T T T 0.003 0.191 0.092 0.031 T T T T T T 0.105 2.136 0.869 N N -1.179 0.242 -1.259 0.237 0.017 0.517 0.547 0.479 0.563 . 2.120 -0.004 -1.673 -1.945 -0.426 0.000 0.000 0.001 779 . . . . TTLL10 162 0 112 43 0.27741935483871 TRUE NA +ENSG00000276747.1 . BCM GRCh38.p13 chr1 17381986 17381986 + G G T Missense_Mutation SNP ENST00000619609.1 exon6 c.G573T p.Q191H exonic ENSG00000276747.1 . nonsynonymous SNV ENSG00000276747.1:ENST00000619609.1:exon6:c.G573T:p.Q191H 1p36.13 C3N-01179 . . . . . . . . . 2.7 . T . . . . M . . 0.393 . . . . . 0.276 . T T T T . . 2.814 23.000 0.679 D . . . . . 0.106 0.066 0.085 0.060 0.059 0.127 4.020 3.100 1.728 1.176 0.676 0.972 0.955 0.742 683 Protein-arginine_deiminase_(PAD),_central_domain . . . PADI6 324 0 199 73 0.268382352941176 TRUE TRUE +ENSG00000204084.13 . BCM GRCh38.p13 chr1 37945821 37945821 + G G C Missense_Mutation SNP ENST00000373023.6 exon3 c.C87G p.D29E exonic ENSG00000204084.13 . nonsynonymous SNV ENSG00000204084.13:ENST00000373023.6:exon3:c.C87G:p.D29E 1p34.3 C3N-01179 . . . . . . . . . 6.19 D D B B N N . D N 0.230 T D T 0.171 0.260 0.863 0.190 T T T T D T 1.792 17.680 0.995 D N -0.254 1.729 -0.158 1.889 1.000 0.646 0.686 0.645 0.628 . 4.650 2.710 0.659 0.232 0.656 1.000 0.999 0.992 687 INPP5B,_PH_domain . . . INPP5B 175 0 71 22 0.236559139784946 TRUE TRUE +ENSG00000085999.13 . BCM GRCh38.p13 chr1 46260923 46260923 + A A C Missense_Mutation SNP ENST00000371975.9 exon7 c.A674C p.N225T exonic ENSG00000085999.13 . nonsynonymous SNV ENSG00000085999.13:ENST00000371975.9:exon7:c.A674C:p.N225T 1p34.1 C3N-01179 . . . . . . . . . 19.20 D D D D D D M D D 0.876 D D D 0.946 0.775 0.997 0.592 T D D D D D 3.956 26.700 0.996 D D 0.968 12.954 0.901 13.814 1.000 0.672 0.702 0.702 0.636 . 5.500 5.500 9.325 1.312 0.756 1.000 1.000 0.998 108 Helicase_superfamily_1/2,_ATP-binding_domain;SNF2-related,_N-terminal_domain . . . RAD54L 416 0 292 91 0.237597911227154 TRUE TRUE +ENSG00000134717.18 . BCM GRCh38.p13 chr1 52059899 52059899 + A A C Missense_Mutation SNP ENST00000313334.13 exon2 c.A52C p.K18Q exonic ENSG00000134717.18 . nonsynonymous SNV ENSG00000134717.18:ENST00000313334.13:exon2:c.A52C:p.K18Q 1p32.3 C3N-01179 . . . . . . . . . 18.19 D D D D D D H . D 0.667 D D D 0.558 0.398 0.590 2.231 D T D D D D 4.534 32 0.994 D D 1.012 14.306 0.966 16.898 1.000 0.609 0.628 0.609 0.492 . 6.100 6.100 9.252 1.292 0.756 1.000 1.000 0.998 468 . . . . BTF3L4 154 0 126 8 0.0597014925373134 TRUE TRUE +ENSG00000179930.6 . BCM GRCh38.p13 chr1 182056955 182056955 + T T A Missense_Mutation SNP ENST00000339948.3 exon2 c.A1056T p.K352N exonic ENSG00000179930.6 . nonsynonymous SNV ENSG00000179930.6:ENST00000339948.3:exon2:c.A1056T:p.K352N 1q25.3 C3N-01179 . . . . . . . . . 4.19 D D B B . D L T N 0.171 T T T 0.037 0.288 0.061 1.281 T T T T D T 2.349 21.800 0.995 N N -0.860 0.571 -0.813 0.739 0.890 0.598 0.596 0.504 0.564 . 2.640 0.105 -0.293 1.138 0.665 0.000 1.000 1.000 910 Zinc_finger_C2H2-type . . . ZNF648 327 0 198 52 0.208 TRUE TRUE +ENSG00000241128.2 . BCM GRCh38.p13 chr1 247723169 247723169 + T T C Missense_Mutation SNP ENST00000366485.1 exon1 c.A875G p.N292S exonic ENSG00000241128.2 . nonsynonymous SNV ENSG00000241128.2:ENST00000366485.1:exon1:c.A875G:p.N292S 1q44 C3N-01179 . . . . . . . . . 5.16 D D . . U N . T D 0.312 T T T 0.126 0.794 0.201 . . T T T D D 2.299 21.600 0.993 N N -0.339 1.520 -0.487 1.223 0.000 0.487 0.574 0.574 0.564 . 3.000 3.000 2.559 0.723 0.631 0.994 0.006 0.031 958 . . . . OR14A2 146 0 100 34 0.253731343283582 TRUE TRUE +ENSG00000068781.21 . BCM GRCh38.p13 chr2 48581782 48581782 + C C G Nonsense_Mutation SNP ENST00000394754.5 exon2 c.C1149G p.Y383X exonic ENSG00000068781.21;ENSG00000243244.6 . stopgain ENSG00000068781.21:ENST00000394754.5:exon2:c.C1149G:p.Y383X,ENSG00000243244.6:ENST00000406226.1:exon3:c.C1149G:p.Y383X 2p16.3 C3N-01179 . . . . . . . . . 5.6 . . . . D A . . . 0.170 . . . . . . . . . D D . . 7.540 38 0.998 D N 0.675 6.787 0.528 5.425 0.704 0.651 0.574 0.659 0.684 . 5.270 4.400 1.931 1.026 0.599 0.995 0.944 0.978 527 Stonin_homology . . . STON1-GTF2A1L 187 0 135 43 0.241573033707865 TRUE TRUE +ENSG00000144224.17 . BCM GRCh38.p13 chr2 135779051 135779051 + C C T Missense_Mutation SNP ENST00000272638.14 exon11 c.C1157T p.A386V exonic ENSG00000144224.17 . nonsynonymous SNV ENSG00000144224.17:ENST00000272638.14:exon11:c.C1157T:p.A386V 2q21.3 C3N-01179 . . . . . . . . . 7.20 T T D P D D N T N 0.344 T T T 0.201 0.490 0.082 0.401 T T T T D D 3.098 23.600 0.999 D D 0.307 3.817 0.369 4.148 1.000 0.732 0.725 0.744 0.714 . 5.100 5.100 3.221 1.026 0.599 1.000 0.999 0.993 285 UBX_domain . . . UBXN4 94 0 64 9 0.123287671232877 TRUE TRUE +ENSG00000152253.9 . BCM GRCh38.p13 chr2 168876135 168876135 + T T C Missense_Mutation SNP ENST00000282074.7 exon5 c.A388G p.R130G exonic ENSG00000152253.9 . nonsynonymous SNV ENSG00000152253.9:ENST00000282074.7:exon5:c.A388G:p.R130G 2q24.3 C3N-01179 0.0001 0 0 0 0 0.0002 0 0 rs141334063 3.20 T T B B N N L D N 0.231 T T D 0.154 . 0.754 0.285 T T T T T T 2.419 22.200 0.984 D N -0.468 1.241 -0.273 1.620 0.158 0.732 0.710 0.744 0.613 . 6.170 2.570 0.782 0.200 0.665 0.995 0.996 0.998 735 . . . . SPC25 67 0 53 3 0.0535714285714286 TRUE NA +ENSG00000115524.17 . BCM GRCh38.p13 chr2 197400846 197400846 + - NA TTCGGC In_Frame_Ins INS ENST00000335508.11 exon18 c.2586_2587insGCCGAA p.E862_Q863insAE exonic ENSG00000115524.17 . nonframeshift insertion ENSG00000115524.17:ENST00000335508.11:exon18:c.2586_2587insGCCGAA:p.E862_Q863insAE 2q33.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SF3B1 NA NA NA NA NA NA NA +ENSG00000171551.12 . BCM GRCh38.p13 chr2 232480799 232480799 + C C A Missense_Mutation SNP ENST00000304546.6 exon16 c.G2070T p.W690C exonic ENSG00000171551.12 . nonsynonymous SNV ENSG00000171551.12:ENST00000304546.6:exon16:c.G2070T:p.W690C 2q37.1 C3N-01179 . . . . . . . . . 20.20 D D D D D D M D D 0.935 D D D 0.844 0.594 0.935 0.783 D D D D D D 4.512 32 0.995 D D 0.880 10.543 0.783 9.642 1.000 0.696 0.590 0.723 0.542 . 5.110 5.110 7.867 1.026 0.549 1.000 1.000 0.998 900 Peptidase_M13,_C-terminal_domain . . . ECEL1 189 0 115 38 0.248366013071895 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52579146 52579146 + G G C Nonsense_Mutation SNP ENST00000296302.11 exon21 c.C3441G p.Y1147X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon21:c.C3441G:p.Y1147X 3p21.1 C3N-01179 . . . . . . . . . 5.6 . . . . D D . . . 0.884 . . . . . . . . . D D . . 7.358 37 0.995 D N 0.476 4.857 0.337 3.942 0.001 0.706 0.725 0.710 0.714 . 5.820 3.050 2.701 1.106 0.509 1.000 1.000 0.998 31 . . . . PBRM1 511 0 202 80 0.283687943262411 TRUE TRUE +ENSG00000206113.11 . BCM GRCh38.p13 chr4 2458744 2458744 + C C T Missense_Mutation SNP ENST00000635017.1 exon12 c.C1183T p.R395C exonic ENSG00000206113.11 . nonsynonymous SNV ENSG00000206113.11:ENST00000635017.1:exon12:c.C1183T:p.R395C 4p16.3 C3N-01179 0.0003 0 0 0.005 0 0.0003 0 0.0003 rs774920415 0.10 . T . . . . . . . 0.218 T T T 0.023 . 0.321 . . . T T T T 1.122 12.980 0.851 N N -0.719 0.781 -0.796 0.763 1.000 0.581 0.547 0.576 0.542 . 4.270 0.452 1.734 -0.186 -0.341 0.344 0.197 0.043 804 . . . . CFAP99 105 0 70 24 0.25531914893617 TRUE NA +ENSG00000124406.16 . BCM GRCh38.p13 chr4 42507030 42507030 + G G T Missense_Mutation SNP ENST00000381668.9 exon23 c.C2072A p.T691N exonic ENSG00000124406.16 . nonsynonymous SNV ENSG00000124406.16:ENST00000381668.9:exon23:c.C2072A:p.T691N 4p13 C3N-01179 . . . . . . . . . 20.20 D D D D D D H D D 0.932 D D D 0.794 0.802 0.891 1.482 D D D D D D 4.065 27.500 0.993 D D 1.161 20.708 1.078 24.733 1.000 0.707 0.725 0.659 0.568 . 6.030 6.030 9.602 1.176 0.676 1.000 1.000 0.998 627 . . . . ATP8A1 141 0 105 26 0.198473282442748 TRUE TRUE +ENSG00000138684.9 . BCM GRCh38.p13 chr4 122620896 122620896 + A A C Missense_Mutation SNP ENST00000648588.1 exon1 c.T116G p.M39R exonic ENSG00000138684.9 . nonsynonymous SNV ENSG00000138684.9:ENST00000648588.1:exon1:c.T116G:p.M39R 4q27 C3N-01179 . . . . . . . . . 5.15 D D . . N N . . N 0.574 T T T 0.153 . 0.507 1.767 T . D T D T 3.631 25.100 0.980 D N 0.475 4.850 0.514 5.287 0.993 0.487 0.590 0.574 0.530 . 5.630 5.630 5.955 1.312 0.756 0.997 0.999 0.997 812 . . . . IL21 237 0 157 56 0.262910798122066 TRUE TRUE +ENSG00000056097.16 . BCM GRCh38.p13 chr5 32388565 32388565 + G G C Missense_Mutation SNP ENST00000265069.13 exon13 c.C2252G p.T751S exonic ENSG00000056097.16 . nonsynonymous SNV ENSG00000056097.16:ENST00000265069.13:exon13:c.C2252G:p.T751S 5p13.3 C3N-01179 . . . . . . . . . 7.20 T T P D D D L T N 0.584 T T T 0.379 0.361 0.482 0.714 D T T T D T 2.803 23.000 0.978 D D 0.565 5.580 0.645 6.829 1.000 0.707 0.725 0.725 0.714 . 5.850 5.850 7.649 1.176 0.676 1.000 1.000 0.999 505 DZF_domain . . . ZFR 144 0 81 29 0.263636363636364 TRUE TRUE +ENSG00000175745.14 . BCM GRCh38.p13 chr5 93588280 93588292 + TGCTGGCCGCCGC TGCTGGCCGCCGC - Frame_Shift_Del DEL ENST00000327111.8 exon2 c.827_839del p.L276Sfs*77 exonic ENSG00000175745.14 . frameshift deletion ENSG00000175745.14:ENST00000327111.8:exon2:c.827_839del:p.L276Sfs*77 5q15 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NR2F1 396 0 218 61 0.218637992831541 TRUE TRUE +ENSG00000204472.13 . BCM GRCh38.p13 chr6 31616446 31616446 + C C T Missense_Mutation SNP ENST00000376059.8 exon5 c.C299T p.T100M exonic ENSG00000204472.13 . nonsynonymous SNV ENSG00000204472.13:ENST00000376059.8:exon5:c.C299T:p.T100M 6p21.33 C3N-01179 8.674e-06 0 0 0 0 1.583e-05 0 0 rs759958730 11.19 D D D P D D M T D 0.583 T T D 0.214 0.177 0.725 0.520 T T T T D . 3.667 25.300 0.998 D D 0.474 4.841 0.376 4.192 1.000 0.733 0.601 0.710 0.530 . 4.380 4.380 4.961 1.004 0.542 1.000 0.916 0.953 867 . . . . AIF1 116 0 80 25 0.238095238095238 TRUE NA +ENSG00000135298.14 . BCM GRCh38.p13 chr6 68975268 68975275 + TGGAGTGG TGGAGTGG - Frame_Shift_Del DEL ENST00000370598.6 exon10 c.1662_1669del p.G555Lfs*14 exonic ENSG00000135298.14 . frameshift deletion ENSG00000135298.14:ENST00000370598.6:exon10:c.1662_1669del:p.G555Lfs*14 6q12 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRB3 234 0 135 23 0.145569620253165 TRUE TRUE +ENSG00000152894.14 . BCM GRCh38.p13 chr6 127976754 127976754 + C C T Missense_Mutation SNP ENST00000368215.7 exon27 c.G3869A p.G1290E exonic ENSG00000152894.14 . nonsynonymous SNV ENSG00000152894.14:ENST00000368215.7:exon27:c.G3869A:p.G1290E 6q22.33 C3N-01179 . . . . . . . . . 12.19 D D D D D D L T D 0.873 T T D 0.293 0.527 0.189 1.554 T D T T D . 4.000 27.000 0.998 D D 0.637 6.320 0.631 6.634 1.000 0.706 0.588 0.710 0.714 . 5.560 4.690 7.905 1.026 0.599 1.000 0.999 0.998 792 PTP_type_protein_phosphatase . . ID=COSV63903985;OCCURENCE=1(skin) PTPRK 203 0 146 37 0.202185792349727 TRUE TRUE +ENSG00000064393.16 . BCM GRCh38.p13 chr7 139573387 139573387 + T T A Missense_Mutation SNP ENST00000406875.8 exon15 c.A3137T p.H1046L exonic ENSG00000064393.16 . nonsynonymous SNV ENSG00000064393.16:ENST00000406875.8:exon15:c.A3137T:p.H1046L 7q34 C3N-01179 . . . . . . . . . 10.18 D T D D . D . T N 0.693 T T D 0.103 0.203 0.677 1.463 T D T T D D 3.173 23.800 0.970 D D 0.491 4.969 0.480 4.979 1.000 0.713 0.702 0.636 0.636 . 4.720 4.720 5.436 1.045 0.661 1.000 0.996 0.983 902 . . . . HIPK2 224 0 132 41 0.236994219653179 TRUE TRUE +ENSG00000127366.5 . BCM GRCh38.p13 chr7 141791203 141791203 + A A C Missense_Mutation SNP ENST00000247883.5 exon1 c.A842C p.Q281P exonic ENSG00000127366.5 . nonsynonymous SNV ENSG00000127366.5:ENST00000247883.5:exon1:c.A842C:p.Q281P 7q34 C3N-01179 . . . . . . . . . 7.19 D D D D . N M T D 0.552 T T T 0.113 0.843 0.324 0.391 T T T T D T 1.403 15.100 0.984 N N -0.304 1.603 -0.534 1.147 0.000 0.615 0.588 0.659 0.613 . 4.040 1.600 0.406 0.283 -0.100 0.001 0.549 0.494 888 . . . . TAS2R5 145 0 110 27 0.197080291970803 TRUE TRUE +ENSG00000119457.8 . BCM GRCh38.p13 chr9 112890131 112890131 + C C A Missense_Mutation SNP ENST00000374228.5 exon1 c.G551T p.G184V exonic ENSG00000119457.8 . nonsynonymous SNV ENSG00000119457.8:ENST00000374228.5:exon1:c.G551T:p.G184V 9q32 C3N-01179 . . . . . . . . . 16.20 D D D D D D M T D 0.924 T T D 0.421 0.693 0.801 0.975 T D D D D D 3.684 25.300 0.998 D D 0.630 6.244 0.639 6.753 1.000 0.437 0.563 0.607 0.530 . 5.540 5.540 5.563 1.025 0.598 1.000 1.000 0.998 661 . . . . SLC46A2 191 0 124 40 0.24390243902439 TRUE TRUE +ENSG00000280094.2 . BCM GRCh38.p13 chr9 122629166 122629166 + G G T Missense_Mutation SNP ENST00000623530.1 exon1 c.C370A p.R124S exonic ENSG00000280094.2 . nonsynonymous SNV ENSG00000280094.2:ENST00000623530.1:exon1:c.C370A:p.R124S 9q33.2 C3N-01179 . . . . . . . . . 13.16 . . D D D D H . . . D D D 0.579 0.280 . . T T D D D T 3.966 26.800 0.997 D D 0.543 5.387 0.403 4.382 0.854 0.487 0.574 0.574 0.564 . 4.260 3.360 5.156 0.126 -0.110 1.000 0.997 0.952 964 GPCR,_rhodopsin-like,_7TM . . . OR1B1 244 1 151 44 0.225641025641026 TRUE NA +ENSG00000107789.16 . BCM GRCh38.p13 chr10 87552345 87552345 + C C G Missense_Mutation SNP ENST00000371996.9 exon5 c.C1331G p.P444R exonic ENSG00000107789.16 . nonsynonymous SNV ENSG00000107789.16:ENST00000371996.9:exon5:c.C1331G:p.P444R 10q23.2 C3N-01179 . . . . . . . . . 3.20 T T B B N D M T N 0.371 T T T 0.391 0.603 0.863 0.422 T T D T T T 1.857 18.160 0.780 N N -0.093 2.198 0.018 2.423 1.000 0.706 0.654 0.710 0.714 . 6.050 6.050 0.685 1.026 0.599 0.002 0.716 0.938 828 . . . . MINPP1 136 0 107 51 0.322784810126582 TRUE TRUE +ENSG00000119977.21 . BCM GRCh38.p13 chr10 95680601 95680601 + - NA T Frame_Shift_Ins INS ENST00000371217.10 exon13 c.1460dupA p.N487Kfs*127 exonic ENSG00000119977.21 . frameshift insertion ENSG00000119977.21:ENST00000371217.10:exon13:c.1460dupA:p.N487Kfs*127 10q24.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCTN3 NA NA NA NA NA NA NA +ENSG00000148834.13 . BCM GRCh38.p13 chr10 104254935 104254935 + G G - Frame_Shift_Del DEL ENST00000369713.10 exon1 c.7delG p.E4Sfs*26 exonic ENSG00000148834.13 . frameshift deletion ENSG00000148834.13:ENST00000369713.10:exon1:c.7delG:p.E4Sfs*26 10q25.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GSTO1 281 0 165 40 0.195121951219512 TRUE TRUE +ENSG00000183605.17 . BCM GRCh38.p13 chr10 119164179 119164179 + A A - Frame_Shift_Del DEL ENST00000355697.7 exon2 c.129delT p.L44Ffs*7 exonic ENSG00000183605.17 . frameshift deletion ENSG00000183605.17:ENST00000355697.7:exon2:c.129delT:p.L44Ffs*7 10q26.11 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SFXN4 69 0 64 24 0.272727272727273 TRUE TRUE +ENSG00000171811.14 . BCM GRCh38.p13 chr10 132918506 132918506 + C C T Missense_Mutation SNP ENST00000368586.10 exon16 c.G1873A p.G625S exonic ENSG00000171811.14 . nonsynonymous SNV ENSG00000171811.14:ENST00000368586.10:exon16:c.G1873A:p.G625S 10q26.3 C3N-01179 . . . . . . . . . 1.16 T T . . . N . T N 0.260 T T D 0.027 0.207 0.014 0.277 T T T T T T 1.057 12.320 0.881 N N -0.685 0.839 -0.826 0.721 0.002 0.646 0.588 0.645 0.613 . 4.320 1.170 -0.182 0.941 0.599 0.000 0.003 0.002 994 . . . . CFAP46 65 0 35 12 0.25531914893617 TRUE NA +ENSG00000124942.14 . BCM GRCh38.p13 chr11 62532103 62532103 + T T C Missense_Mutation SNP ENST00000378024.9 exon5 c.A2314G p.N772D exonic ENSG00000124942.14 . nonsynonymous SNV ENSG00000124942.14:ENST00000378024.9:exon5:c.A2314G:p.N772D 11q12.3 C3N-01179 . . . . . . . . . 8.19 T T D D N D M T D 0.178 T T T 0.089 0.186 0.358 0.098 T D T T D T 2.778 23.000 0.993 D . 0.080 2.807 -0.002 2.354 0.998 0.707 0.654 0.659 0.714 . 5.460 4.340 1.032 1.138 0.660 0.001 0.990 0.993 272 . . . . AHNAK 501 0 382 104 0.213991769547325 TRUE TRUE +ENSG00000137496.18 . BCM GRCh38.p13 chr11 72001840 72001846 + CAGTCCA CAGTCCA - Frame_Shift_Del DEL ENST00000393703.9 exon6 c.564_570del p.P190Sfs*27 exonic ENSG00000137496.18 . frameshift deletion ENSG00000137496.18:ENST00000393703.9:exon6:c.564_570del:p.P190Sfs*27 11q13.4 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL18BP 291 0 167 22 0.116402116402116 TRUE TRUE +ENSG00000110330.8 . BCM GRCh38.p13 chr11 102378088 102378088 + C C T Missense_Mutation SNP ENST00000613397.4 exon9 c.C1762T p.H588Y exonic ENSG00000110330.8 . nonsynonymous SNV ENSG00000110330.8:ENST00000613397.4:exon9:c.C1762T:p.H588Y 11q22.2 C3N-01179 . . . . . . . . . 19.20 D D D D D D H D D 0.956 D D D 0.919 0.849 0.976 0.728 D T D D D D 3.853 26.100 0.999 D D 1.170 21.360 1.066 23.642 1.000 0.706 0.725 0.710 0.714 . 5.940 5.940 7.818 1.026 0.599 1.000 1.000 1.000 862 Zinc_finger,_RING-type . . . BIRC2 116 0 65 14 0.177215189873418 TRUE TRUE +ENSG00000196099.4 . BCM GRCh38.p13 chr11 123806011 123806011 + C C G Missense_Mutation SNP ENST00000309154.2 exon1 c.G339C p.L113F exonic ENSG00000196099.4 . nonsynonymous SNV ENSG00000196099.4:ENST00000309154.2:exon1:c.G339C:p.L113F 11q24.1 C3N-01179 . . . . . . . . . 5.20 D T P P U N M T D 0.290 T T T 0.151 0.628 0.409 0.279 T T T T D D 1.441 15.360 0.998 N N 0.042 2.662 -0.113 2.011 0.000 0.487 0.574 0.574 0.564 . 3.680 1.720 -1.519 0.848 0.528 0.000 0.976 0.964 718 GPCR,_rhodopsin-like,_7TM . . . OR6M1 170 0 115 35 0.233333333333333 TRUE TRUE +ENSG00000154134.15 . BCM GRCh38.p13 chr11 124868891 124868891 + C C T Missense_Mutation SNP ENST00000397801.6 exon2 c.C250T p.P84S exonic ENSG00000154134.15 . nonsynonymous SNV ENSG00000154134.15:ENST00000397801.6:exon2:c.C250T:p.P84S 11q24.2 C3N-01179 . . . . . . . . . 5.20 T T B B N N N T N 0.213 T T D 0.180 0.540 0.764 2.003 T T T T D D 2.483 22.400 0.998 D D -0.141 2.049 0.025 2.447 1.000 0.598 0.563 0.608 0.639 . 5.260 5.260 6.782 1.026 0.599 1.000 0.963 0.667 712 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . ROBO3 255 0 152 51 0.251231527093596 TRUE NA +ENSG00000067715.14 . BCM GRCh38.p13 chr12 79299456 79299456 + G G C Missense_Mutation SNP ENST00000261205.9 exon8 c.G715C p.D239H exonic ENSG00000067715.14 . nonsynonymous SNV ENSG00000067715.14:ENST00000261205.9:exon8:c.G715C:p.D239H 12q21.2 C3N-01179 . . . . . . . . . 17.20 D D D D D D M T D 0.868 T T D 0.798 0.661 0.810 2.801 D D D D D D 4.268 29.300 0.996 D D 0.663 6.632 0.724 8.217 1.000 0.706 0.574 0.710 0.632 . 5.700 5.700 10.003 1.176 0.676 1.000 0.999 0.996 944 C2_domain . . . SYT1 294 0 135 41 0.232954545454545 TRUE TRUE +ENSG00000136021.19 . BCM GRCh38.p13 chr12 100291521 100291521 + T T - Frame_Shift_Del DEL ENST00000360820.7 exon3 c.196delT p.F66Lfs*5 exonic ENSG00000136021.19 . frameshift deletion ENSG00000136021.19:ENST00000360820.7:exon3:c.196delT:p.F66Lfs*5 12q23.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCYL2 101 0 65 18 0.216867469879518 TRUE TRUE +ENSG00000172915.18 . BCM GRCh38.p13 chr13 35182374 35182374 + A A T Missense_Mutation SNP ENST00000400445.7 exon29 c.A4677T p.Q1559H exonic ENSG00000172915.18 . nonsynonymous SNV ENSG00000172915.18:ENST00000400445.7:exon29:c.A4677T:p.Q1559H 13q13.3 C3N-01179 . . . . . . . . . 14.20 D D D D D D L T D 0.782 T T D 0.523 0.547 0.635 0.889 D D D T D D 2.992 23.400 0.998 D N 0.256 3.561 0.188 3.124 0.458 0.615 0.588 0.659 0.621 . 5.490 2.830 0.973 0.201 -0.187 1.000 0.999 0.984 943 . . . . NBEA 143 0 101 24 0.192 TRUE TRUE +ENSG00000175820.4 . BCM GRCh38.p13 chr13 102750214 102750214 + G G C Missense_Mutation SNP ENST00000322527.4 exon4 c.C483G p.I161M exonic ENSG00000175820.4 . nonsynonymous SNV ENSG00000175820.4:ENST00000322527.4:exon4:c.C483G:p.I161M 13q33.1 C3N-01179 . . . . . . . . . 2.8 D D . . . . . T N 0.120 . . . . . 0.249 . T . T T . . 1.372 14.900 0.448 N . . . . . 0.621 0.061 0.063 0.063 0.057 0.164 5.720 -3.150 -0.039 -0.328 -0.106 0.002 0.000 0.022 925 . . . . CCDC168 85 0 55 15 0.214285714285714 TRUE TRUE +ENSG00000198718.13 . BCM GRCh38.p13 chr14 44964354 44964354 + T T A Missense_Mutation SNP ENST00000361577.7 exon1 c.T1933A p.C645S exonic ENSG00000198718.13 . nonsynonymous SNV ENSG00000198718.13:ENST00000361577.7:exon1:c.T1933A:p.C645S 14q21.2 C3N-01179 . . . . . . . . . 2.19 T T P B N D . T N 0.147 T T T 0.066 0.490 0.132 0.247 T T T T T T 1.886 18.380 0.915 D N -0.364 1.462 -0.204 1.775 1.000 0.493 0.522 0.695 0.665 . 4.930 4.930 1.473 1.138 0.665 0.047 0.898 0.926 800 . . . ID=COSV61887580;OCCURENCE=1(kidney) TOGARAM1 100 0 53 23 0.302631578947368 TRUE TRUE +ENSG00000185246.18 . BCM GRCh38.p13 chr14 45109616 45109619 + ATTA ATTA - Frame_Shift_Del DEL ENST00000355765.11 exon8 c.1012_1015del p.I338Kfs*7 exonic ENSG00000185246.18 . frameshift deletion ENSG00000185246.18:ENST00000355765.11:exon8:c.1012_1015del:p.I338Kfs*7 14q21.2 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRPF39 44 0 17 6 0.260869565217391 TRUE TRUE +ENSG00000087303.18 . BCM GRCh38.p13 chr14 52019255 52019255 + C C A Missense_Mutation SNP ENST00000216286.10 exon14 c.G2834T p.R945L exonic ENSG00000087303.18 . nonsynonymous SNV ENSG00000087303.18:ENST00000216286.10:exon14:c.G2834T:p.R945L 14q22.1 C3N-01179 . . . . . . . . . 0.20 T T B B N N N T N 0.159 T T T 0.120 0.537 0.372 0.115 T T T T T T 0.474 6.230 0.866 N N -1.127 0.284 -1.175 0.305 1.000 0.706 0.547 0.710 0.592 . 5.320 -2.470 -0.491 0.125 0.594 0.000 0.023 0.295 896 Thyroglobulin_type-1 . . . NID2 62 0 48 18 0.272727272727273 TRUE TRUE +ENSG00000119688.21 . BCM GRCh38.p13 chr14 74292350 74292350 + A A T Missense_Mutation SNP ENST00000356924.9 exon11 c.T1055A p.L352Q exonic ENSG00000119688.21 . nonsynonymous SNV ENSG00000119688.21:ENST00000356924.9:exon11:c.T1055A:p.L352Q 14q24.3 C3N-01179 . . . . . . . . . 9.20 T T B B N D M D N 0.256 D D D 0.511 0.345 0.987 0.254 T T D D T T 1.881 18.340 0.923 D N -0.076 2.253 0.105 2.755 1.000 0.707 0.725 0.696 0.714 . 5.630 5.630 3.053 1.312 0.756 1.000 0.998 0.876 491 . . . . ABCD4 296 0 194 53 0.214574898785425 TRUE TRUE +ENSG00000100697.14 . BCM GRCh38.p13 chr14 95103936 95103936 + T T C Missense_Mutation SNP ENST00000526495.5 exon23 c.A3460G p.R1154G exonic ENSG00000100697.14 . nonsynonymous SNV ENSG00000100697.14:ENST00000526495.5:exon23:c.A3460G:p.R1154G 14q32.13 C3N-01179 . . . . . . . . . 7.20 D T B B N N L D N 0.710 T T D 0.223 0.532 0.910 0.639 T T D T T D 2.542 22.500 0.996 D D -0.164 1.980 0.034 2.478 1.000 0.707 0.725 0.725 0.714 . 5.240 5.240 3.957 1.134 0.661 1.000 0.988 0.985 970 . . . . DICER1 184 0 139 45 0.244565217391304 TRUE TRUE +ENSG00000103742.12 . BCM GRCh38.p13 chr15 65410220 65410220 + A A G Missense_Mutation SNP ENST00000352385.3 exon3 c.T521C p.I174T exonic ENSG00000103742.12 . nonsynonymous SNV ENSG00000103742.12:ENST00000352385.3:exon3:c.T521C:p.I174T 15q22.31 C3N-01179 . . . . . . . . . 17.20 D D D D D D M T D 0.907 D D D 0.890 0.682 0.758 0.386 T T D D D D 3.978 26.800 0.998 D D 0.860 10.073 0.804 10.258 1.000 0.706 0.476 0.710 0.530 . 5.480 5.480 8.762 1.312 0.756 1.000 0.952 0.974 456 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IGDCC4 276 0 168 44 0.207547169811321 TRUE TRUE +ENSG00000157766.18 . BCM GRCh38.p13 chr15 88840181 88840182 + TG TG - Frame_Shift_Del DEL ENST00000439576.7 exon4 c.624_625del p.V209Qfs*17 exonic ENSG00000157766.18 . frameshift deletion ENSG00000157766.18:ENST00000439576.7:exon4:c.624_625del:p.V209Qfs*17 15q26.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACAN 63 0 36 7 0.162790697674419 TRUE TRUE +ENSG00000166188.2 . BCM GRCh38.p13 chr16 57996969 57996969 + - NA C Frame_Shift_Ins INS ENST00000299237.2 exon2 c.1296dupG p.C433Vfs*161 exonic ENSG00000166188.2 . frameshift insertion ENSG00000166188.2:ENST00000299237.2:exon2:c.1296dupG:p.C433Vfs*161 16q21 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF319 NA NA NA NA NA NA NA +ENSG00000197943.10 . BCM GRCh38.p13 chr16 81956784 81956784 + C C A Missense_Mutation SNP ENST00000564138.6 exon32 c.C3660A p.H1220Q exonic ENSG00000197943.10 . nonsynonymous SNV ENSG00000197943.10:ENST00000564138.6:exon32:c.C3660A:p.H1220Q 16q23.3 C3N-01179 . . . . . . . . . 2.20 T T B B N D N T N 0.315 T T T 0.140 0.202 0.589 0.276 T T T T T T 1.457 15.460 0.963 D N -0.564 1.054 -0.430 1.319 1.000 0.672 0.702 0.659 0.668 . 5.560 0.788 -0.245 1.026 0.599 0.735 1.000 1.000 892 . . . . PLCG2 219 0 109 7 0.0603448275862069 TRUE TRUE +ENSG00000167100.14 . BCM GRCh38.p13 chr17 50118256 50118256 + C C A Missense_Mutation SNP ENST00000330175.8 exon3 c.G115T p.A39S exonic ENSG00000167100.14 . nonsynonymous SNV ENSG00000167100.14:ENST00000330175.8:exon3:c.G115T:p.A39S 17q21.33 C3N-01179 . . . . . . . . . 6.18 D T D P N D . . N 0.271 T T T 0.033 0.198 0.667 1.300 T T T T D D 3.521 24.800 0.998 D N 0.432 4.551 0.461 4.822 1.000 0.677 0.610 0.673 0.700 . 5.100 5.100 2.741 1.026 0.599 1.000 1.000 0.997 811 . . . ID=COSV53311324;OCCURENCE=1(prostate) SAMD14 179 0 158 41 0.206030150753769 TRUE TRUE +ENSG00000105131.8 . BCM GRCh38.p13 chr19 15227825 15227825 + A A C Missense_Mutation SNP ENST00000221730.8 exon6 c.T803G p.F268C exonic ENSG00000105131.8 . nonsynonymous SNV ENSG00000105131.8:ENST00000221730.8:exon6:c.T803G:p.F268C 19p13.12 C3N-01179 . . . . . . . . . 6.20 T T P P N D M T D 0.840 T T T 0.243 0.625 0.222 0.415 T T T T D T 4.096 27.700 0.991 D D 0.521 5.205 0.455 4.775 1.000 0.672 0.547 0.702 0.563 . 5.140 5.140 6.207 1.307 0.751 1.000 0.990 0.997 840 Alpha/beta_hydrolase_fold-1 . . . EPHX3 264 1 159 42 0.208955223880597 TRUE TRUE +ENSG00000011451.21 . BCM GRCh38.p13 chr19 15424988 15424988 + G G A Missense_Mutation SNP ENST00000673675.1 exon11 c.C4939T p.R1647C exonic ENSG00000011451.21 . nonsynonymous SNV ENSG00000011451.21:ENST00000673675.1:exon11:c.C4939T:p.R1647C 19p13.12 C3N-01179 . . . . . . . . . 14.19 D D D D D D . T D 0.945 T T D 0.254 . 0.307 1.552 D T D T D D 4.434 31 0.999 D D 0.674 6.764 0.668 7.200 0.180 0.707 0.702 0.723 0.714 . 5.560 5.560 4.340 1.176 0.671 1.000 1.000 0.995 654 Zinc_finger_C2H2-type . . . WIZ 135 0 94 34 0.265625 TRUE TRUE +ENSG00000130312.6 . BCM GRCh38.p13 chr19 17305921 17305921 + G G T Missense_Mutation SNP ENST00000252602.1 exon1 c.G29T p.G10V exonic ENSG00000130312.6 . nonsynonymous SNV ENSG00000130312.6:ENST00000252602.1:exon1:c.G29T:p.G10V 19p13.11 C3N-01179 . . . . . . . . . 1.18 T T B B N N . . N 0.519 T T T 0.031 0.327 0.126 0.686 T T T T D T 1.041 12.120 0.893 N N -1.014 0.390 -1.082 0.394 1.000 0.442 0.522 0.522 0.373 . 3.540 1.290 0.832 0.951 0.676 0.001 0.004 0.007 784 . . . . MRPL34 518 0 377 42 0.100238663484487 TRUE TRUE +ENSG00000188505.5 . BCM GRCh38.p13 chr19 39200706 39200706 + C C T Missense_Mutation SNP ENST00000339852.5 exon6 c.C778T p.R260W exonic ENSG00000188505.5 . nonsynonymous SNV ENSG00000188505.5:ENST00000339852.5:exon6:c.C778T:p.R260W 19q13.2 C3N-01179 1.652e-05 0 0 0 0 1.504e-05 0 6.072e-05 rs772826705 3.20 T T B B N D M T N 0.231 T T T 0.039 0.561 0.386 0.205 T T T T T T 2.142 20.400 0.999 D N -0.332 1.538 -0.246 1.680 0.834 0.701 0.590 0.717 0.542 . 4.960 3.920 0.809 0.125 -0.240 0.682 0.333 0.166 517 F-box_associated_(FBA)_domain . . ID=COSV59212405;OCCURENCE=2(central_nervous_system) NCCRP1 254 0 156 35 0.183246073298429 TRUE TRUE +ENSG00000007306.15 . BCM GRCh38.p13 chr19 41683896 41683896 + T T C Missense_Mutation SNP ENST00000401731.6 exon3 c.A595G p.R199G exonic ENSG00000007306.15 . nonsynonymous SNV ENSG00000007306.15:ENST00000401731.6:exon3:c.A595G:p.R199G 19q13.2 C3N-01179 . . . . . . . . . 4.14 D T . . . D . T D 0.335 T T T 0.179 0.566 0.256 0.120 T . T T D . 3.074 23.600 0.994 N N -0.297 1.621 -0.323 1.517 0.000 0.487 0.563 0.574 0.564 . 2.830 2.830 0.923 1.017 0.361 0.991 0.749 0.057 884 . . . . CEACAM7 401 1 296 82 0.216931216931217 TRUE TRUE +ENSG00000221923.9 . BCM GRCh38.p13 chr19 52384959 52384959 + G G A Missense_Mutation SNP ENST00000422689.3 exon4 c.G1379A p.G460E exonic ENSG00000221923.9 . nonsynonymous SNV ENSG00000221923.9:ENST00000422689.3:exon4:c.G1379A:p.G460E 19q13.41 C3N-01179 . . . . . . . . . 7.19 D D D D . D L T D 0.231 T T T 0.084 0.334 0.340 0.344 T T T T D T 2.406 22.100 0.997 N N 0.097 2.873 -0.089 2.077 0.988 0.706 0.710 0.464 0.655 . 2.030 2.030 2.418 0.670 0.552 0.994 0.819 0.303 988 Zinc_finger_C2H2-type . . . ZNF880 131 0 79 28 0.261682242990654 TRUE TRUE +ENSG00000124177.15 . BCM GRCh38.p13 chr20 41483352 41483352 + C C T Missense_Mutation SNP ENST00000373233.8 exon16 c.G2425A p.V809M exonic ENSG00000124177.15 . nonsynonymous SNV ENSG00000124177.15:ENST00000373233.8:exon16:c.G2425A:p.V809M 20q12 C3N-01179 . . . . . . . . . 18.20 D D D D D D L T D 0.733 D D D 0.715 0.489 0.949 2.402 D D D D D D 3.898 26.300 0.999 D D 0.938 12.088 0.900 13.747 1.000 0.732 0.654 0.744 0.714 . 5.560 5.560 7.879 1.025 0.596 1.000 1.000 0.999 957 Helicase,_C-terminal . . . CHD6 176 0 115 41 0.262820512820513 TRUE TRUE +ENSG00000124159.15 . BCM GRCh38.p13 chr20 45304782 45304782 + G G A Missense_Mutation SNP ENST00000372754.5 exon2 c.C89T p.T30I exonic ENSG00000124159.15 . nonsynonymous SNV ENSG00000124159.15:ENST00000372754.5:exon2:c.C89T:p.T30I 20q13.12 C3N-01179 . . . . . . . . . 8.20 D D B B N N M T D 0.253 T T D 0.264 0.487 0.857 0.487 T T T T D T 1.802 17.750 0.993 D D -0.329 1.543 -0.296 1.572 0.001 0.646 0.588 0.645 0.639 . 4.200 2.160 4.083 0.098 0.676 0.758 0.746 0.863 872 . . . . MATN4 74 0 54 17 0.23943661971831 TRUE TRUE +ENSG00000101470.10 . BCM GRCh38.p13 chr20 45827246 45827246 + C C A Translation_Start_Site SNP ENST00000372555.8 exon1 c.G3T p.M1? exonic ENSG00000101470.10 . startloss ENSG00000101470.10:ENST00000372555.8:exon1:c.G3T:p.M1? 20q13.12 C3N-01179 . . . . . . . . . 10.18 D D P B N D . T N 0.935 T T D 0.355 0.572 0.909 . . T D D D D 4.606 32 0.995 D D 0.726 7.500 0.664 7.128 1.000 0.741 0.590 0.768 0.613 . 5.050 5.050 3.383 1.026 0.599 1.000 1.000 0.997 819 . . . . TNNC2 279 1 169 32 0.159203980099502 TRUE TRUE +ENSG00000101040.19 . BCM GRCh38.p13 chr20 47291869 47291869 + G G T Missense_Mutation SNP ENST00000311275.11 exon6 c.C527A p.P176H exonic ENSG00000101040.19 . nonsynonymous SNV ENSG00000101040.19:ENST00000311275.11:exon6:c.C527A:p.P176H 20q13.12 C3N-01179 . . . . . . . . . 17.20 D D D D D D H T D 0.886 D T D 0.599 0.746 0.714 2.502 D T D D D D 4.312 29.700 0.996 D D 1.162 20.776 1.079 24.816 1.000 0.707 0.725 0.702 0.714 . 5.840 5.840 9.998 1.176 0.676 1.000 0.994 0.990 758 RACK7,_Bromo_domain;Bromodomain . . . ZMYND8 153 0 101 36 0.262773722627737 TRUE TRUE +ENSG00000124198.9 . BCM GRCh38.p13 chr20 49025355 49025355 + C C T Nonsense_Mutation SNP ENST00000371917.5 exon36 c.C4798T p.Q1600X exonic ENSG00000124198.9 . stopgain ENSG00000124198.9:ENST00000371917.5:exon36:c.C4798T:p.Q1600X 20q13.13 C3N-01179 . . . . . . . . . 5.6 . . . . D A . . . 0.967 . . . . . . . . . D D . . 8.329 42 0.998 D N 1.192 22.971 1.059 23.004 1.000 0.707 0.725 0.725 0.714 . 5.700 5.700 7.818 1.023 0.599 1.000 0.999 0.996 934 . . . . ARFGEF2 528 1 382 130 0.25390625 TRUE TRUE +ENSG00000197114.11 . BCM GRCh38.p13 chr20 63708698 63708698 + C C T Nonsense_Mutation SNP ENST00000328969.5 exon2 c.C118T p.Q40X exonic ENSG00000197114.11 . stopgain ENSG00000197114.11:ENST00000328969.5:exon2:c.C118T:p.Q40X 20q13.33 C3N-01179 . . . . . . . . . 5.6 . . . . D A . . . 0.150 . . . . . . . . . D D . . 6.141 35 0.998 D N 0.718 7.372 0.528 5.424 1.000 0.726 0.672 0.594 0.658 . 4.360 3.390 3.924 1.022 -0.177 1.000 0.962 0.911 . . . . ID=COSV100157448;OCCURENCE=1(lung) ZGPAT 242 0 137 50 0.267379679144385 TRUE TRUE +ENSG00000099953.10 . BCM GRCh38.p13 chr22 23781289 23781289 + C C T Missense_Mutation SNP ENST00000215743.8 exon6 c.C955T p.L319F exonic ENSG00000099953.10 . nonsynonymous SNV ENSG00000099953.10:ENST00000215743.8:exon6:c.C955T:p.L319F 22q11.23 C3N-01179 . . . . . . . . . 5.19 D T P P D D L T N 0.464 T T T 0.166 0.591 0.451 0.860 T T T T D . 2.448 22.300 0.998 D N 0.206 3.328 0.201 3.190 1.000 0.646 0.547 0.645 0.700 . 4.730 3.710 2.384 -0.230 -0.818 1.000 0.360 0.928 976 Hemopexin-like_domain . . . MMP11 441 2 267 71 0.210059171597633 TRUE TRUE +ENSG00000162924.15 . BCM GRCh38.p13 chr2 60920644 60920651 + TATTTTAT TATTTTAT - Splice_Site DEL NA NA NA NA splicing ENSG00000162924.15 . . . 2p16.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REL 74 0 52 15 0.223880597014925 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142188 10142188 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000134086.8 ENST00000256474.3:exon1:c.340+1G>A . . 3p25.3 C3N-01179 . . . . . . . . rs730882032 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.956 35 0.994 D . 1.008 14.169 0.842 11.484 1.000 0.090 0.098 0.050 0.088 0.983 5.080 5.080 4.421 1.002 0.522 1.000 0.853 0.717 364 . . . ID=COSV56544858;OCCURENCE=15(kidney) VHL 355 0 169 58 0.255506607929515 TRUE TRUE +ENSG00000186635.14 . BCM GRCh38.p13 chr11 72698108 72698108 + T T G Splice_Site SNP NA NA NA NA splicing ENSG00000186635.14 ENST00000393609.7:exon19:c.2542-2A>C . . 11q13.4 C3N-01179 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.258 33 0.985 D . 1.014 14.381 0.860 12.142 0.929 0.156 0.126 0.072 0.221 0.818 5.440 5.440 4.469 1.138 0.665 1.000 0.750 0.791 439 . . . . ARAP1 107 0 57 19 0.25 TRUE TRUE +ENSG00000163154.6 . BCM GRCh38.p13 chr1 151158979 151158979 + G G A Silent SNP ENST00000368910.4 exon2 c.G282A p.L94L exonic ENSG00000163154.6 . synonymous SNV ENSG00000163154.6:ENST00000368910.4:exon2:c.G282A:p.L94L 1q21.3 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNFAIP8L2 309 0 221 58 0.207885304659498 TRUE TRUE +ENSG00000116906.13 . BCM GRCh38.p13 chr1 231270843 231270843 + G G A Silent SNP ENST00000366647.9 exon10 c.G1365A p.L455L exonic ENSG00000116906.13 . synonymous SNV ENSG00000116906.13:ENST00000366647.9:exon10:c.G1365A:p.L455L 1q42.2 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GNPAT 571 1 392 80 0.169491525423729 TRUE TRUE +ENSG00000119285.11 . BCM GRCh38.p13 chr1 236564543 236564543 + C C T Silent SNP ENST00000366582.8 exon32 c.G4554A p.V1518V exonic ENSG00000119285.11 . synonymous SNV ENSG00000119285.11:ENST00000366582.8:exon32:c.G4554A:p.V1518V 1q43 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HEATR1 144 0 91 30 0.247933884297521 TRUE TRUE +ENSG00000171863.15 . BCM GRCh38.p13 chr2 3580876 3580876 + A A G Silent SNP ENST00000645674.2 exon7 c.A579G p.Q193Q exonic ENSG00000171863.15 . synonymous SNV ENSG00000171863.15:ENST00000645674.2:exon7:c.A579G:p.Q193Q 2p25.3 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPS7 119 0 92 7 0.0707070707070707 TRUE TRUE +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167250749 167250749 + G G A Silent SNP ENST00000628543.2 exon7 c.G8832A p.P2944P exonic ENSG00000163092.21 . synonymous SNV ENSG00000163092.21:ENST00000628543.2:exon7:c.G8832A:p.P2944P 2q24.3 C3N-01179 8.322e-06 0 8.7e-05 0 0 0 0 0 rs558320173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54693442;OCCURENCE=1(breast) XIRP2 341 2 219 59 0.212230215827338 TRUE TRUE +ENSG00000153820.13 . BCM GRCh38.p13 chr2 228019999 228019999 + T T C Silent SNP ENST00000392056.8 exon7 c.A855G p.R285R exonic ENSG00000153820.13 . synonymous SNV ENSG00000153820.13:ENST00000392056.8:exon7:c.A855G:p.R285R 2q36.3 C3N-01179 1.648e-05 0 0 0 0 2.997e-05 0 0 rs761308944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPHKAP 198 0 111 37 0.25 TRUE NA +ENSG00000084093.18 . BCM GRCh38.p13 chr4 56931783 56931783 + C C A Silent SNP ENST00000309042.12 exon4 c.C2925A p.P975P exonic ENSG00000084093.18 . synonymous SNV ENSG00000084093.18:ENST00000309042.12:exon4:c.C2925A:p.P975P 4q12 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REST 148 0 131 43 0.247126436781609 TRUE TRUE +ENSG00000113407.13 . BCM GRCh38.p13 chr5 33455687 33455687 + T T C Silent SNP ENST00000265112.7 exon6 c.T676C p.L226L exonic ENSG00000113407.13 . synonymous SNV ENSG00000113407.13:ENST00000265112.7:exon6:c.T676C:p.L226L 5p13.3 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TARS1 45 0 25 10 0.285714285714286 TRUE TRUE +ENSG00000204616.11 . BCM GRCh38.p13 chr6 30105223 30105223 + C C T Silent SNP ENST00000376734.4 exon7 c.G903A p.R301R exonic ENSG00000204616.11 . synonymous SNV ENSG00000204616.11:ENST00000376734.4:exon7:c.G903A:p.R301R 6p22.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65059534;OCCURENCE=3(skin) TRIM31 118 0 80 15 0.157894736842105 TRUE TRUE +ENSG00000196313.11 . BCM GRCh38.p13 chr7 72925289 72925289 + C C T Silent SNP ENST00000434423.4 exon1 c.C168T p.A56A exonic ENSG00000196313.11 . synonymous SNV ENSG00000196313.11:ENST00000434423.4:exon1:c.C168T:p.A56A 7q11.23 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POM121 184 0 133 55 0.292553191489362 NA TRUE +ENSG00000169490.17 . BCM GRCh38.p13 chr8 38996362 38996362 + C C T Silent SNP ENST00000456397.7 exon1 c.G78A p.L26L exonic ENSG00000169490.17 . synonymous SNV ENSG00000169490.17:ENST00000456397.7:exon1:c.G78A:p.L26L 8p11.22 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TM2D2 449 0 259 68 0.207951070336391 TRUE TRUE +ENSG00000172014.12 . BCM GRCh38.p13 chr9 64411239 64411239 + C C T Silent SNP ENST00000357336.3 exon15 c.C1953T p.S651S exonic ENSG00000172014.12 . synonymous SNV ENSG00000172014.12:ENST00000357336.3:exon15:c.C1953T:p.S651S 9q13 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD20A4P 122 0 103 7 0.0636363636363636 NA TRUE +ENSG00000148219.16 . BCM GRCh38.p13 chr9 116820678 116820678 + G G A Silent SNP ENST00000313400.8 exon12 c.C2146T p.L716L exonic ENSG00000148219.16 . synonymous SNV ENSG00000148219.16:ENST00000313400.8:exon12:c.C2146T:p.L716L 9q33.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASTN2 219 0 117 20 0.145985401459854 TRUE TRUE +ENSG00000148334.15 . BCM GRCh38.p13 chr9 128127685 128127685 + C C A Silent SNP ENST00000338961.11 exon1 c.G33T p.L11L exonic ENSG00000148334.15 . synonymous SNV ENSG00000148334.15:ENST00000338961.11:exon1:c.G33T:p.L11L 9q34.11 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTGES2 29 0 35 12 0.25531914893617 TRUE TRUE +ENSG00000132932.17 . BCM GRCh38.p13 chr13 25553830 25553830 + G G A Silent SNP ENST00000381655.7 exon12 c.G1095A p.T365T exonic ENSG00000132932.17 . synonymous SNV ENSG00000132932.17:ENST00000381655.7:exon12:c.G1095A:p.T365T 13q12.13 C3N-01179 8.292e-06 0 0 0 0 0 0 6.081e-05 rs778237397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP8A2 109 0 67 10 0.12987012987013 TRUE NA +ENSG00000174197.16 . BCM GRCh38.p13 chr15 41761744 41761744 + C C T Silent SNP ENST00000219905.11 exon21 c.C7404T p.F2468F exonic ENSG00000174197.16 . synonymous SNV ENSG00000174197.16:ENST00000219905.11:exon21:c.C7404T:p.F2468F 15q15.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MGA 59 0 21 12 0.363636363636364 TRUE TRUE +ENSG00000166813.15 . BCM GRCh38.p13 chr15 89629115 89629115 + G G A Silent SNP ENST00000394412.8 exon18 c.C3525T p.L1175L exonic ENSG00000166813.15 . synonymous SNV ENSG00000166813.15:ENST00000394412.8:exon18:c.C3525T:p.L1175L 15q26.1 C3N-01179 0.0003 0 0 0 0.0002 0.0005 0 0 rs145915541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF7 523 0 384 105 0.214723926380368 TRUE NA +ENSG00000140691.17 . BCM GRCh38.p13 chr16 31459857 31459857 + C C A Silent SNP ENST00000268314.9 exon1 c.C333A p.P111P exonic ENSG00000140691.17 . synonymous SNV ENSG00000140691.17:ENST00000268314.9:exon1:c.C333A:p.P111P 16p11.2 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARMC5 379 1 233 76 0.245954692556634 TRUE TRUE +ENSG00000161920.11 . BCM GRCh38.p13 chr17 4731540 4731540 + T T A Silent SNP ENST00000293777.6 exon1 c.T51A p.I17I exonic ENSG00000161920.11 . synonymous SNV ENSG00000161920.11:ENST00000293777.6:exon1:c.T51A:p.I17I 17p13.2 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MED11 244 0 160 31 0.162303664921466 TRUE TRUE +ENSG00000170049.9 . BCM GRCh38.p13 chr17 7927406 7927406 + C C T Silent SNP ENST00000303790.2 exon4 c.G342A p.L114L exonic ENSG00000170049.9 . synonymous SNV ENSG00000170049.9:ENST00000303790.2:exon4:c.G342A:p.L114L 17p13.1 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNAB3 261 0 183 47 0.204347826086957 TRUE TRUE +ENSG00000186566.13 . BCM GRCh38.p13 chr17 44397691 44397691 + G G C Silent SNP ENST00000591680.6 exon8 c.C4386G p.L1462L exonic ENSG00000186566.13 . synonymous SNV ENSG00000186566.13:ENST00000591680.6:exon8:c.C4386G:p.L1462L 17q21.31 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPATCH8 66 0 37 17 0.314814814814815 TRUE TRUE +ENSG00000136449.15 . BCM GRCh38.p13 chr17 50517645 50517645 + T T C Silent SNP ENST00000323776.11 exon4 c.T415C p.L139L exonic ENSG00000136449.15 . synonymous SNV ENSG00000136449.15:ENST00000323776.11:exon4:c.T415C:p.L139L 17q21.33 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYCBPAP 269 0 256 43 0.1438127090301 TRUE NA +ENSG00000104885.18 . BCM GRCh38.p13 chr19 2206763 2206763 + T T G Silent SNP ENST00000398665.8 exon10 c.T822G p.P274P exonic ENSG00000104885.18 . synonymous SNV ENSG00000104885.18:ENST00000398665.8:exon10:c.T822G:p.P274P 19p13.3 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOT1L 259 0 163 41 0.200980392156863 TRUE TRUE +ENSG00000167608.11 . BCM GRCh38.p13 chr19 54162225 54162225 + C C T Silent SNP ENST00000617472.4 exon11 c.G1581A p.Q527Q exonic ENSG00000167608.11 . synonymous SNV ENSG00000167608.11:ENST00000617472.4:exon11:c.G1581A:p.Q527Q 19q13.42 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMC4 113 0 79 31 0.281818181818182 TRUE TRUE +ENSG00000198768.11 . BCM GRCh38.p13 chr20 58467517 58467517 + G G A Silent SNP ENST00000371149.8 exon3 c.C330T p.V110V exonic ENSG00000198768.11 . synonymous SNV ENSG00000198768.11:ENST00000371149.8:exon3:c.C330T:p.V110V 20q13.32 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APCDD1L 126 0 90 41 0.312977099236641 TRUE TRUE +ENSG00000157399.16 . BCM GRCh38.p13 chrX 2943162 2943162 + G G A Silent SNP ENST00000381134.9 exon8 c.C1029T p.S343S exonic ENSG00000157399.16 . synonymous SNV ENSG00000157399.16:ENST00000381134.9:exon8:c.C1029T:p.S343S Xp22.33 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARSL 150 0 77 78 0.503225806451613 TRUE TRUE +ENSG00000064933.18 . BCM GRCh38.p13 chr2 189857501 189857503 + TAA TAA - Intron DEL NA NA NA NA intronic ENSG00000064933.18 . . . 2q32.2 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PMS1 53 0 35 6 0.146341463414634 TRUE NA +ENSG00000065518.8 . BCM GRCh38.p13 chr3 120596545 120596545 + T T A Intron SNP NA NA NA NA intronic ENSG00000065518.8 . . . 3q13.33 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDUFB4 199 0 106 45 0.298013245033113 TRUE NA +ENSG00000158856.18 . BCM GRCh38.p13 chr8 22081918 22081918 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000158856.18 ENST00000358242.5:c.*455T>C . . 8p21.3 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMTN 175 0 96 34 0.261538461538462 TRUE NA +ENSG00000107771.17 . BCM GRCh38.p13 chr10 84513911 84513911 + T T A 3'UTR SNP NA NA NA NA UTR3 ENSG00000107771.17 ENST00000224756.12:c.*368T>A . . 10q23.1 C3N-01179 . . . . . . . . . 5.16 D D D P . D . T N 0.113 T T T 0.067 0.154 0.421 . . . T T T T 3.058 23.500 0.922 D N 0.450 4.667 0.452 4.753 0.995 0.722 0.725 0.699 0.714 . 5.190 5.190 2.057 1.138 0.665 1.000 0.993 0.994 947 . . . . CCSER2 354 0 203 67 0.248148148148148 TRUE TRUE +ENSG00000172890.13 . BCM GRCh38.p13 chr11 71474529 71474529 + A A T Intron SNP NA NA NA NA intronic ENSG00000172890.13 . . . 11q13.4 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NADSYN1 483 1 299 79 0.208994708994709 TRUE NA +ENSG00000255234.6 . BCM GRCh38.p13 chr11 83286153 83286153 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255234.6 . . . 11q14.1 C3N-01179 . . . . . . . . . 0.16 T T B B . N . T N 0.288 T T T 0.011 0.266 0.081 . . . T T T T 0.333 4.668 0.937 N N -1.520 0.075 -1.601 0.075 1.000 0.442 0.522 0.522 0.562 . 4.410 -3.300 0.038 -1.669 -3.364 0.000 0.000 0.000 630 . . . . AP000446.1 201 0 156 48 0.235294117647059 TRUE TRUE +ENSG00000197182.14 . BCM GRCh38.p13 chr22 46105834 46105834 + G G C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000197182.14 . . . 22q13.31 C3N-01179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIRLET7BHG 45 0 46 14 0.233333333333333 TRUE NA +ENSG00000162384.14 . BCM GRCh38.p13 chr1 53218471 53218471 + G G A Missense_Mutation SNP ENST00000294360.5 exon4 c.C172T p.R58C exonic ENSG00000162384.14 . nonsynonymous SNV ENSG00000162384.14:ENST00000294360.5:exon4:c.C172T:p.R58C 1p32.3 C3N-01200 6.612e-05 0 0.0003 0 0 1.503e-05 0 0.0002 rs562231137 14.14 D D . . D D . . D 0.884 D D D 0.406 0.637 0.521 0.323 . . D D D D 4.242 29.100 0.999 D D 0.794 8.659 0.707 7.886 1.000 0.707 0.725 0.725 0.714 . 5.150 5.150 2.730 1.176 0.676 1.000 0.988 0.965 453 . . . . CZIB 186 0 122 10 0.0757575757575758 TRUE NA +ENSG00000185962.1 . BCM GRCh38.p13 chr1 152623055 152623055 + G G A Missense_Mutation SNP ENST00000335674.1 exon1 c.C49T p.P17S exonic ENSG00000185962.1 . nonsynonymous SNV ENSG00000185962.1:ENST00000335674.1:exon1:c.C49T:p.P17S 1q21.3 C3N-01200 . . . . . . . . . 3.18 D T D P . N . T D 0.262 T T T 0.058 0.213 0.138 0.073 T T T T T T 1.279 14.230 0.701 N N -0.194 1.892 -0.373 1.422 0.985 0.500 0.624 0.574 0.613 . 3.760 2.820 0.464 1.096 0.558 0.023 0.006 0.202 783 . . . . LCE3A 409 0 240 58 0.194630872483221 TRUE TRUE +ENSG00000116521.11 . BCM GRCh38.p13 chr1 155256723 155256723 + G G T Missense_Mutation SNP ENST00000302631.8 exon8 c.C848A p.A283D exonic ENSG00000116521.11 . nonsynonymous SNV ENSG00000116521.11:ENST00000302631.8:exon8:c.C848A:p.A283D 1q22 C3N-01200 . . . . . . . . . 13.19 D D D D D D M T D 0.800 T T T 0.701 0.730 0.598 1.142 T T D D D . 4.101 27.800 0.998 D D 0.978 13.258 0.917 14.483 1.000 0.672 0.698 0.723 0.711 . 5.210 5.210 9.775 1.172 0.672 1.000 0.985 0.979 41 . . . . SCAMP3 191 0 114 32 0.219178082191781 TRUE TRUE +ENSG00000173285.4 . BCM GRCh38.p13 chr1 158466473 158466473 + A A - Frame_Shift_Del DEL ENST00000641432.1 exon2 c.912delA p.I305Sfs*35 exonic ENSG00000173285.4 . frameshift deletion ENSG00000173285.4:ENST00000641432.1:exon2:c.912delA:p.I305Sfs*35 1q23.1 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR10K1 180 0 124 8 0.0606060606060606 NA TRUE +ENSG00000075945.13 . BCM GRCh38.p13 chr1 169961131 169961131 + C C A Missense_Mutation SNP ENST00000361580.7 exon18 c.G2088T p.E696D exonic ENSG00000075945.13 . nonsynonymous SNV ENSG00000075945.13:ENST00000361580.7:exon18:c.G2088T:p.E696D 1q24.2 C3N-01200 . . . . . . . . . 4.20 T T B B D D N T N 0.180 T T T 0.053 0.647 0.364 0.321 T T T T T D 1.558 16.100 0.991 D N -0.592 1.002 -0.442 1.298 0.000 0.693 0.659 0.659 0.564 . 5.320 1.350 0.177 -0.236 -0.257 0.978 0.969 0.971 466 . . . . KIFAP3 237 0 137 19 0.121794871794872 TRUE TRUE +ENSG00000143333.7 . BCM GRCh38.p13 chr1 182600482 182600482 + G G A Missense_Mutation SNP ENST00000367558.6 exon5 c.C419T p.T140M exonic ENSG00000143333.7 . nonsynonymous SNV ENSG00000143333.7:ENST00000367558.6:exon5:c.C419T:p.T140M 1q25.3 C3N-01200 0.0001 9.61e-05 0 0.0001 0 5.993e-05 0 0.0004 rs376142721 14.20 D D D D D D M T D 0.755 T T D 0.412 . 0.771 0.680 T T T D D D 3.445 24.500 0.999 D D 0.741 7.727 0.643 6.807 1.000 0.722 0.672 0.699 0.542 . 5.380 5.380 7.842 1.158 0.656 1.000 0.344 0.061 810 RGS_domain . . ID=COSV62375587;OCCURENCE=1(stomach),1(prostate) RGS16 313 0 192 47 0.196652719665272 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149932 10149936 + GGAGC GGAGC - Frame_Shift_Del DEL ENST00000256474.3 exon3 c.609_613del p.E204Hfs*50 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon3:c.609_613del:p.E204Hfs*50 3p25.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 518 0 264 76 0.223529411764706 TRUE TRUE +ENSG00000178252.18 . BCM GRCh38.p13 chr3 49015043 49015043 + C C T Missense_Mutation SNP ENST00000608424.6 exon6 c.C3121T p.P1041S exonic ENSG00000178252.18 . nonsynonymous SNV ENSG00000178252.18:ENST00000608424.6:exon6:c.C3121T:p.P1041S 3p21.31 C3N-01200 . . . . . . . . . 10.20 D T D D D D M T N 0.608 T T D 0.229 0.702 0.794 0.556 T T T T D T 3.494 24.700 0.999 D D 0.209 3.343 0.298 3.703 1.000 0.672 0.702 0.702 0.711 . 5.210 4.290 3.283 1.026 0.599 0.978 0.999 0.993 0 . . . . WDR6 282 0 138 36 0.206896551724138 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52406277 52406277 + - NA T Frame_Shift_Ins INS ENST00000460680.6 exon9 c.758dupA p.T254Dfs*30 exonic ENSG00000163930.10 . frameshift insertion ENSG00000163930.10:ENST00000460680.6:exon9:c.758dupA:p.T254Dfs*30 3p21.1 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 NA NA NA NA NA NA NA +ENSG00000145451.13 . BCM GRCh38.p13 chr4 174677193 174677193 + G G A Missense_Mutation SNP ENST00000274093.8 exon7 c.C812T p.S271F exonic ENSG00000145451.13 . nonsynonymous SNV ENSG00000145451.13:ENST00000274093.8:exon7:c.C812T:p.S271F 4q34.1 C3N-01200 . . . . . . . . . 20.20 D D D D D D H D D 0.973 D D D 0.945 0.807 0.971 0.778 D D D D D D 4.350 30 0.999 D D 1.065 16.098 0.996 18.582 1.000 0.487 0.574 0.574 0.564 . 5.560 5.560 9.850 1.176 0.676 1.000 1.000 0.998 963 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . GLRA3 228 0 145 23 0.136904761904762 TRUE TRUE +ENSG00000039139.9 . BCM GRCh38.p13 chr5 13811663 13811663 + C C - Frame_Shift_Del DEL ENST00000265104.4 exon44 c.7391delG p.G2464Afs*2 exonic ENSG00000039139.9 . frameshift deletion ENSG00000039139.9:ENST00000265104.4:exon44:c.7391delG:p.G2464Afs*2 5p15.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH5 215 0 143 30 0.173410404624277 TRUE TRUE +ENSG00000113318.11 . BCM GRCh38.p13 chr5 80672308 80672308 + C C A Missense_Mutation SNP ENST00000265081.7 exon5 c.C857A p.P286H exonic ENSG00000113318.11 . nonsynonymous SNV ENSG00000113318.11:ENST00000265081.7:exon5:c.C857A:p.P286H 5q14.1 C3N-01200 . . . . . . . . . 20.20 D D D D D D H D D 0.979 D D D 0.963 0.875 0.988 0.225 D D D D D D 4.044 27.300 0.997 D D 1.018 14.489 0.931 15.140 1.000 0.778 0.854 0.854 0.826 . 5.690 5.690 7.496 1.026 0.599 1.000 0.999 0.988 860 DNA_mismatch_repair_protein_MutS-like,_N-terminal . . . MSH3 404 0 310 30 0.0882352941176471 TRUE TRUE +ENSG00000118985.16 . BCM GRCh38.p13 chr5 95961597 95961597 + A A G Missense_Mutation SNP ENST00000237853.9 exon1 c.T125C p.L42P exonic ENSG00000118985.16 . nonsynonymous SNV ENSG00000118985.16:ENST00000237853.9:exon1:c.T125C:p.L42P 5q15 C3N-01200 . . . . . . . . . 15.20 D D D D N D M T D 0.821 T T D 0.558 0.905 0.747 1.563 D T D D D D 4.364 31 0.992 D D 0.615 6.085 0.563 5.792 1.000 0.442 0.522 0.522 0.562 . 4.150 4.150 4.431 1.207 0.651 1.000 0.997 0.996 888 RNA_polymerase_II_elongation_factor_ELL,_N-terminal . . . ELL2 109 0 101 8 0.073394495412844 TRUE TRUE +ENSG00000262576.3 . BCM GRCh38.p13 chr5 141355385 141355385 + G G A Missense_Mutation SNP ENST00000571252.3 exon1 c.G278A p.R93H exonic ENSG00000262576.3 . nonsynonymous SNV ENSG00000262576.3:ENST00000571252.3:exon1:c.G278A:p.R93H 5q31.3 C3N-01200 8.293e-06 0 0 0 0 1.503e-05 0 0 rs746094461 3.8 . T . . . D . . . 0.217 . . D . . 0.774 0.435 . . T T . T 2.783 23.000 0.996 D N . . . . 0.998 0.455 0.547 0.578 0.568 . 5.650 2.910 3.631 0.223 0.676 0.579 0.561 0.968 638 Cadherin-like;Cadherin,_N-terminal . . ID=COSV53925110;OCCURENCE=1(oesophagus),1(large_intestine),2(stomach) PCDHGA4 227 0 184 27 0.127962085308057 TRUE TRUE +ENSG00000155506.17 . BCM GRCh38.p13 chr5 154793998 154793998 + G G T Missense_Mutation SNP ENST00000336314.9 exon6 c.G836T p.R279L exonic ENSG00000155506.17 . nonsynonymous SNV ENSG00000155506.17:ENST00000336314.9:exon6:c.G836T:p.R279L 5q33.2 C3N-01200 . . . . . . . . . 8.19 D T P P N D . T D 0.500 T T D 0.216 0.472 0.342 1.133 T T T T D D 4.696 32 0.996 D D 0.073 2.780 0.212 3.244 1.000 0.722 0.702 0.698 0.735 . 5.800 4.920 6.032 1.176 0.676 1.000 1.000 1.000 925 . . . . LARP1 66 0 46 3 0.0612244897959184 TRUE NA +ENSG00000105877.18 . BCM GRCh38.p13 chr7 21867880 21867880 + G G - Frame_Shift_Del DEL ENST00000409508.8 exon72 c.11712delG p.G3905Vfs*12 exonic ENSG00000105877.18 . frameshift deletion ENSG00000105877.18:ENST00000409508.8:exon72:c.11712delG:p.G3905Vfs*12 7p15.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH11 157 0 99 21 0.175 TRUE TRUE +ENSG00000122565.19 . BCM GRCh38.p13 chr7 26212104 26212104 + T T A Missense_Mutation SNP ENST00000396386.7 exon6 c.T448A p.L150M exonic ENSG00000122565.19 . nonsynonymous SNV ENSG00000122565.19:ENST00000396386.7:exon6:c.T448A:p.L150M 7p15.2 C3N-01200 . . . . . . . . . 11.20 T T D D D D M T N 0.489 T T D 0.380 0.715 0.717 2.079 D T T T D D 3.289 24.100 0.994 D D 0.256 3.561 0.159 2.988 1.000 0.707 0.725 0.702 0.711 . 5.250 1.210 1.432 0.185 -0.123 1.000 0.999 0.984 595 Chromo/chromo_shadow_domain;Chromo_shadow_domain . . . CBX3 170 0 102 7 0.0642201834862385 NA TRUE +ENSG00000196275.14 . BCM GRCh38.p13 chr7 74796973 74796973 + G G C Missense_Mutation SNP ENST00000451013.6 exon16 c.C2539G p.L847V exonic ENSG00000196275.14 . nonsynonymous SNV ENSG00000196275.14:ENST00000451013.6:exon16:c.C2539G:p.L847V 7q11.23 C3N-01200 . . . . . . . . . 3.16 . D D D . N L . . 0.267 T T T 0.065 0.322 0.072 . T T T T T T 2.472 22.300 0.996 N N 0.239 3.479 0.120 2.818 0.000 0.615 0.634 0.602 0.621 . 1.840 1.840 1.951 0.691 0.498 0.631 0.734 0.772 958 . . . . GTF2IRD2 118 0 68 12 0.15 NA TRUE +ENSG00000174428.18 . BCM GRCh38.p13 chr7 75148986 75148986 + C C G Missense_Mutation SNP ENST00000472837.7 exon16 c.C2539G p.L847V exonic ENSG00000174428.18 . nonsynonymous SNV ENSG00000174428.18:ENST00000472837.7:exon16:c.C2539G:p.L847V 7q11.23 C3N-01200 . . . . . . . . . 4.16 . D D D . N L . . 0.345 T T T 0.048 0.337 0.040 . T T T T D T 2.152 20.500 0.980 N N -0.075 2.256 -0.239 1.695 0.000 0.638 0.670 0.618 0.621 . 1.660 1.660 1.517 0.608 0.276 0.374 0.856 0.687 911 . . . . GTF2IRD2B 370 1 276 26 0.0860927152317881 NA TRUE +ENSG00000127995.17 . BCM GRCh38.p13 chr7 94555628 94555628 + T T C Missense_Mutation SNP ENST00000297273.9 exon18 c.T2264C p.I755T exonic ENSG00000127995.17 . nonsynonymous SNV ENSG00000127995.17:ENST00000297273.9:exon18:c.T2264C:p.I755T 7q21.3 C3N-01200 . . . . . . . . . 15.20 D D D D D D M T N 0.886 T T D 0.386 0.535 0.469 1.291 D T D D D D 3.828 26.000 0.998 D D 0.750 7.878 0.727 8.285 1.000 0.638 0.670 0.659 0.655 . 5.290 5.290 7.866 1.135 0.604 1.000 1.000 0.996 621 Cas1p_10_TM_acyl_transferase_domain . . . CASD1 295 0 175 42 0.193548387096774 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112287146 112287146 + A A T Missense_Mutation SNP ENST00000297405.10 exon58 c.T9249A p.D3083E exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon58:c.T9249A:p.D3083E 8q23.3 C3N-01200 . . . . . . . . . 0.20 T T B B N N N T N 0.233 T T T 0.065 0.515 0.266 0.147 T T T T T T 1.020 11.870 0.326 N N -1.126 0.284 -0.951 0.552 0.000 0.487 0.574 0.574 0.564 . 5.360 0.766 -0.578 0.307 -0.089 0.000 1.000 0.991 835 Sushi/SCR/CCP_domain . . . CSMD3 571 0 358 60 0.143540669856459 TRUE TRUE +ENSG00000204612.1 . BCM GRCh38.p13 chr9 77020252 77020252 + - NA A Frame_Shift_Ins INS ENST00000376708.1 exon1 c.599dupA p.Q201Afs*73 exonic ENSG00000204612.1 . frameshift insertion ENSG00000204612.1:ENST00000376708.1:exon1:c.599dupA:p.Q201Afs*73 9q21.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXB2 NA NA NA NA NA NA NA +ENSG00000050555.18 . BCM GRCh38.p13 chr9 131057037 131057037 + T T G Missense_Mutation SNP ENST00000361069.9 exon12 c.T2048G p.F683C exonic ENSG00000050555.18 . nonsynonymous SNV ENSG00000050555.18:ENST00000361069.9:exon12:c.T2048G:p.F683C 9q34.12 C3N-01200 . . . . . . . . . 16.20 D D D D D D M T D 0.720 D T D 0.498 0.398 0.894 0.772 T T D D D D 4.153 28.200 0.994 D D 0.733 7.605 0.647 6.866 1.000 0.361 0.547 0.567 0.542 . 4.890 4.890 3.722 0.188 0.636 1.000 0.866 0.989 411 Laminin_EGF_domain . . . LAMC3 599 1 420 44 0.0948275862068965 TRUE TRUE +ENSG00000133816.15 . BCM GRCh38.p13 chr11 12226312 12226312 + G G T Missense_Mutation SNP ENST00000256194.8 exon14 c.G1830T p.M610I exonic ENSG00000133816.15 . nonsynonymous SNV ENSG00000133816.15:ENST00000256194.8:exon14:c.G1830T:p.M610I 11p15.3 C3N-01200 . . . . . . . . . 8.20 T D B B N D N T D 0.380 T T T 0.120 0.528 0.550 0.123 T D T T D D 2.762 22.900 0.982 D D -0.287 1.647 -0.130 1.964 1.000 0.707 0.588 0.618 0.714 . 5.280 2.240 4.943 1.176 0.676 1.000 1.000 0.998 859 Calponin_homology_domain . . . MICAL2 307 0 189 41 0.178260869565217 TRUE TRUE +ENSG00000186513.3 . BCM GRCh38.p13 chr11 58191361 58191361 + A A T Missense_Mutation SNP ENST00000641291.1 exon2 c.A871T p.S291C exonic ENSG00000186513.3 . nonsynonymous SNV ENSG00000186513.3:ENST00000641291.1:exon2:c.A871T:p.S291C 11q12.1 C3N-01200 . . . . . . . . . 11.20 D D D D D D M T D 0.296 T T D 0.210 0.694 0.607 0.612 T T T T D T 3.508 24.700 0.987 D N 0.482 4.896 0.382 4.231 0.001 0.487 0.574 0.574 0.564 . 5.090 5.090 1.228 1.311 0.756 0.480 0.999 0.944 360 . . . . OR9Q2 91 0 75 22 0.22680412371134 TRUE TRUE +ENSG00000110002.16 . BCM GRCh38.p13 chr11 124137254 124137254 + T T C Missense_Mutation SNP ENST00000456829.7 exon15 c.T1865C p.I622T exonic ENSG00000110002.16 . nonsynonymous SNV ENSG00000110002.16:ENST00000456829.7:exon15:c.T1865C:p.I622T 11q24.2 C3N-01200 . . . . . . . . rs1029456014 0.20 T T B B U N N T N 0.149 T T T 0.007 0.333 0.014 0.041 T T T T T T 0.176 2.849 0.451 N N -1.488 0.085 -1.585 0.080 0.001 0.693 0.588 0.659 0.564 . 2.730 -5.460 -0.511 -0.009 -0.347 0.000 0.000 0.000 769 . . . ID=COSV64412154;OCCURENCE=1(stomach) VWA5A 155 0 88 5 0.0537634408602151 TRUE TRUE +ENSG00000123352.18 . BCM GRCh38.p13 chr12 49490702 49490702 + A A C Missense_Mutation SNP ENST00000552918.6 exon6 c.A235C p.K79Q exonic ENSG00000123352.18 . nonsynonymous SNV ENSG00000123352.18:ENST00000552918.6:exon6:c.A235C:p.K79Q 12q13.12 C3N-01200 . . . . . . . . . 11.19 D D P P D D M . D 0.503 T T T 0.235 0.275 0.196 0.771 T T D T D D 3.694 25.400 0.993 D D 0.555 5.495 0.589 6.083 1.000 0.745 0.732 0.710 0.723 . 5.240 5.240 7.842 1.312 0.691 1.000 1.000 1.000 173 . . . . SPATS2 196 0 94 16 0.145454545454545 TRUE TRUE +ENSG00000102189.17 . BCM GRCh38.p13 chr12 92816370 92816370 + G G T Missense_Mutation SNP ENST00000322349.13 exon15 c.C1759A p.Q587K exonic ENSG00000102189.17 . nonsynonymous SNV ENSG00000102189.17:ENST00000322349.13:exon15:c.C1759A:p.Q587K 12q22 C3N-01200 . . . . . . . . . 11.20 D T D D D D L T N 0.677 T T D 0.254 0.184 0.704 0.826 T T D T D D 3.974 26.800 0.995 D D 0.498 5.018 0.538 5.528 1.000 0.732 0.654 0.653 0.728 . 5.270 5.270 9.564 1.176 0.618 1.000 1.000 0.992 919 . . . . EEA1 285 0 169 37 0.179611650485437 TRUE NA +ENSG00000177084.18 . BCM GRCh38.p13 chr12 132673238 132673238 + A A T Missense_Mutation SNP ENST00000320574.10 exon14 c.T1399A p.Y467N exonic ENSG00000177084.18 . nonsynonymous SNV ENSG00000177084.18:ENST00000320574.10:exon14:c.T1399A:p.Y467N 12q24.33 C3N-01200 . . . . . . . . . 18.20 D D D D D D H T D 0.980 D T D 0.603 0.481 0.588 1.003 D D D D D D 4.298 29.600 0.991 D D 0.914 11.410 0.820 10.741 1.000 0.707 0.702 0.725 0.714 . 5.380 5.380 9.325 1.312 0.691 1.000 0.983 0.982 906 . . . . POLE 202 0 128 24 0.157894736842105 TRUE TRUE +ENSG00000152484.14 . BCM GRCh38.p13 chr13 27095674 27095674 + G G C Missense_Mutation SNP ENST00000282344.11 exon4 c.C500G p.P167R exonic ENSG00000152484.14 . nonsynonymous SNV ENSG00000152484.14:ENST00000282344.11:exon4:c.C500G:p.P167R 13q12.13 C3N-01200 . . . . . . . . . 6.20 D T B B N D N T N 0.427 T T T 0.121 0.348 0.139 1.045 T T T T D D 3.175 23.800 0.998 D D 0.240 3.483 0.415 4.469 1.000 0.732 0.744 0.659 0.728 . 5.540 5.540 7.956 1.176 0.676 1.000 1.000 1.000 940 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP12 174 0 110 8 0.0677966101694915 NA TRUE +ENSG00000133104.14 . BCM GRCh38.p13 chr13 36335048 36335048 + A A - Nonsense_Mutation SNP ENST00000438666.7 exon2 c.783delT p.L262* exonic ENSG00000133104.14 . stopgain ENSG00000133104.14:ENST00000438666.7:exon2:c.783delT:p.L262* 13q13.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPART 210 0 134 22 0.141025641025641 TRUE TRUE +ENSG00000174373.16 . BCM GRCh38.p13 chr14 35627123 35627123 + A A C Missense_Mutation SNP ENST00000389698.7 exon33 c.T5306G p.L1769R exonic ENSG00000174373.16 . nonsynonymous SNV ENSG00000174373.16:ENST00000389698.7:exon33:c.T5306G:p.L1769R 14q13.2 C3N-01200 . . . . . . . . . 19.20 D D D D D D M D D 0.911 D D D 0.969 0.638 0.970 2.064 D T D D D D 4.098 27.700 0.998 D D 0.570 5.627 0.617 6.437 1.000 0.554 0.588 0.602 0.568 . 5.400 5.400 9.268 1.311 0.756 1.000 1.000 0.999 526 . . . . RALGAPA1 48 0 17 6 0.260869565217391 NA TRUE +ENSG00000103742.12 . BCM GRCh38.p13 chr15 65393445 65393445 + T T G Missense_Mutation SNP ENST00000352385.3 exon10 c.A1801C p.I601L exonic ENSG00000103742.12 . nonsynonymous SNV ENSG00000103742.12:ENST00000352385.3:exon10:c.A1801C:p.I601L 15q22.31 C3N-01200 . . . . . . . . . 9.20 T D D D D D L T N 0.560 T T D 0.317 0.632 0.648 0.368 T T T T D T 3.771 25.700 0.992 D D 0.414 4.432 0.320 3.834 1.000 0.696 0.610 0.723 0.530 . 4.630 3.510 4.835 1.138 0.609 1.000 0.992 0.905 458 Fibronectin_type_III . . . IGDCC4 137 0 73 6 0.0759493670886076 NA TRUE +ENSG00000136383.6 . BCM GRCh38.p13 chr15 84817075 84817075 + C C - Frame_Shift_Del DEL ENST00000258888.5 exon1 c.229delC p.S79Afs*75 exonic ENSG00000136383.6 . frameshift deletion ENSG00000136383.6:ENST00000258888.5:exon1:c.229delC:p.S79Afs*75 15q25.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALPK3 169 0 123 7 0.0538461538461538 NA TRUE +ENSG00000008710.20 . BCM GRCh38.p13 chr16 2108981 2108981 + C C A Missense_Mutation SNP ENST00000262304.9 exon15 c.G6186T p.Q2062H exonic ENSG00000008710.20 . nonsynonymous SNV ENSG00000008710.20:ENST00000262304.9:exon15:c.G6186T:p.Q2062H 16p13.3 C3N-01200 . . . . . . . . . 6.20 T D D D N N M T N 0.510 T T D 0.305 0.484 0.830 . T T T T D T 2.031 19.490 0.988 N N 0.239 3.480 0.127 2.846 0.012 0.672 0.702 0.723 0.636 . 5.490 5.490 0.637 1.015 0.584 0.002 0.168 0.047 654 PKD/Chitinase_domain;Polycystin_cation_channel . . . PKD1 201 0 134 24 0.151898734177215 NA TRUE +ENSG00000069329.18 . BCM GRCh38.p13 chr16 46671728 46671728 + - NA AG Frame_Shift_Ins INS ENST00000299138.12 exon12 c.1500_1501insCT p.E501Lfs*9 exonic ENSG00000069329.18 . frameshift insertion ENSG00000069329.18:ENST00000299138.12:exon12:c.1500_1501insCT:p.E501Lfs*9 16q11.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS35 NA NA NA NA NA NA NA +ENSG00000103044.11 . BCM GRCh38.p13 chr16 69114831 69114831 + T T G Missense_Mutation SNP ENST00000569188.6 exon4 c.T1227G p.I409M exonic ENSG00000103044.11 . nonsynonymous SNV ENSG00000103044.11:ENST00000569188.6:exon4:c.T1227G:p.I409M 16q22.1 C3N-01200 . . . . . . . . . 15.20 D D D D D D M T N 0.483 T T D 0.421 0.522 0.430 1.423 D T D D D D 2.855 23.100 0.995 D D 0.274 3.650 0.216 3.261 0.997 0.672 0.602 0.702 0.636 . 6.070 2.330 1.393 0.158 -0.278 1.000 1.000 0.997 218 . . . . HAS3 251 0 159 16 0.0914285714285714 TRUE TRUE +ENSG00000136485.15 . BCM GRCh38.p13 chr17 63578607 63578615 + TGACTATCT TGACTATCT - In_Frame_Del DEL ENST00000614556.5 exon2 c.276_284del p.D93_L95del exonic ENSG00000136485.15 . nonframeshift deletion ENSG00000136485.15:ENST00000614556.5:exon2:c.276_284del:p.D93_L95del 17q23.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCAF7 206 0 121 15 0.110294117647059 TRUE TRUE +ENSG00000108604.16 . BCM GRCh38.p13 chr17 63833077 63833077 + A A T Missense_Mutation SNP ENST00000448276.7 exon12 c.T1534A p.F512I exonic ENSG00000108604.16 . nonsynonymous SNV ENSG00000108604.16:ENST00000448276.7:exon12:c.T1534A:p.F512I 17q23.3 C3N-01200 . . . . . . . . . 10.20 D D P B D D M T D 0.594 T T T 0.280 0.494 0.174 1.253 D T T T D T 3.493 24.700 0.916 D D 0.469 4.806 0.549 5.641 1.000 0.672 0.698 0.698 0.711 . 5.340 5.340 9.325 1.312 0.756 1.000 1.000 0.979 856 . . . . SMARCD2 250 0 184 11 0.0564102564102564 TRUE TRUE +ENSG00000197971.16 . BCM GRCh38.p13 chr18 77016846 77016846 + G G A Missense_Mutation SNP ENST00000355994.7 exon4 c.C562T p.R188W exonic ENSG00000197971.16 . nonsynonymous SNV ENSG00000197971.16:ENST00000355994.7:exon4:c.C562T:p.R188W 18q23 C3N-01200 2.482e-05 0 0.0003 0 0 0 0 0 rs766571087 12.19 D D D D D D L . D 0.759 T T D 0.364 0.549 0.347 0.741 T T T T D D 4.641 32 0.999 D D 0.537 5.338 0.495 5.112 1.000 0.672 0.702 0.659 0.586 . 5.220 4.260 3.220 1.141 0.672 1.000 1.000 0.993 875 . . . . MBP 170 0 100 17 0.145299145299145 TRUE NA +ENSG00000256463.8 . BCM GRCh38.p13 chr18 78992083 78992083 + G G A Missense_Mutation SNP ENST00000537592.6 exon2 c.G92A p.G31E exonic ENSG00000256463.8 . nonsynonymous SNV ENSG00000256463.8:ENST00000537592.6:exon2:c.G92A:p.G31E 18q23 C3N-01200 . . . . . . . . . 5.20 T T P B N D N T N 0.488 T T T 0.049 0.211 0.697 0.515 D T T T D T 2.375 22.000 0.988 D D 0.003 2.520 0.127 2.850 1.000 0.718 0.588 0.571 0.542 . 4.930 4.930 5.562 1.083 0.676 1.000 0.615 0.599 . . . . . SALL3 58 0 25 6 0.193548387096774 TRUE TRUE +ENSG00000105409.19 . BCM GRCh38.p13 chr19 41978218 41978218 + G G C Missense_Mutation SNP ENST00000644613.1 exon13 c.C1739G p.S580C exonic ENSG00000105409.19;ENSG00000285505.1 . nonsynonymous SNV ENSG00000285505.1:ENST00000644613.1:exon13:c.C1739G:p.S580C,ENSG00000105409.19:ENST00000648268.1:exon13:c.C1739G:p.S580C 19q13.2 C3N-01200 . . . . . . . . . 18.20 D D D D D D L T D 0.825 D D D 0.838 0.653 0.924 2.563 D D D D D D 4.342 29.900 0.994 D D 0.800 8.777 0.762 9.092 1.000 0.706 0.670 0.710 0.613 . 4.440 4.440 9.875 1.176 0.676 1.000 1.000 0.992 846 . . . . ATP1A3 321 0 209 64 0.234432234432234 TRUE TRUE +ENSG00000197016.12 . BCM GRCh38.p13 chr19 56577177 56577177 + C C A Missense_Mutation SNP ENST00000330619.13 exon6 c.C748A p.H250N exonic ENSG00000197016.12 . nonsynonymous SNV ENSG00000197016.12:ENST00000330619.13:exon6:c.C748A:p.H250N 19q13.43 C3N-01200 . . . . . . . . . 10.19 D D D D . N M T D 0.341 T D T 0.365 0.727 0.843 0.097 T T T T D T 3.376 24.300 0.991 D D 0.765 8.137 0.649 6.896 1.000 0.554 0.588 0.670 0.492 . 4.010 4.010 3.742 1.026 0.549 0.946 1.000 0.998 988 Zinc_finger_C2H2-type . . . ZNF470 83 0 59 6 0.0923076923076923 TRUE TRUE +ENSG00000152454.4 . BCM GRCh38.p13 chr19 57941439 57941439 + G G A Missense_Mutation SNP ENST00000282308.4 exon3 c.C1369T p.H457Y exonic ENSG00000152454.4 . nonsynonymous SNV ENSG00000152454.4:ENST00000282308.4:exon3:c.C1369T:p.H457Y 19q13.43 C3N-01200 . . . . . . . . . 7.19 D D B B . N M T D 0.297 T T T 0.211 0.908 0.704 0.151 T T T T D D 1.805 17.770 0.994 D N -0.269 1.691 -0.334 1.497 0.001 0.707 0.725 0.609 0.636 . 3.050 0.721 4.278 1.143 0.492 1.000 0.089 0.021 982 Zinc_finger_C2H2-type . . . ZNF256 229 0 144 25 0.14792899408284 TRUE TRUE +ENSG00000132640.15 . BCM GRCh38.p13 chr20 11923304 11923304 + A A C Missense_Mutation SNP ENST00000378226.7 exon4 c.A1207C p.K403Q exonic ENSG00000132640.15 . nonsynonymous SNV ENSG00000132640.15:ENST00000378226.7:exon4:c.A1207C:p.K403Q 20p12.2 C3N-01200 8.238e-06 0 0 0 0 0 0 6.056e-05 rs759996580 13.20 D D D P D D L T N 0.706 D D D 0.562 0.792 0.958 1.129 D T T D T D 3.973 26.800 0.995 D D 0.748 7.848 0.753 8.859 1.000 0.707 0.588 0.702 0.714 . 6.160 6.160 9.325 1.312 0.756 1.000 1.000 0.998 641 PHR . . . BTBD3 235 0 171 47 0.215596330275229 TRUE NA +ENSG00000089006.16 . BCM GRCh38.p13 chr20 17951544 17951544 + T T C Missense_Mutation SNP ENST00000377768.7 exon7 c.A565G p.S189G exonic ENSG00000089006.16 . nonsynonymous SNV ENSG00000089006.16:ENST00000377768.7:exon7:c.A565G:p.S189G 20p11.23 C3N-01200 . . . . . . . . . 6.20 T T B B D D L T N 0.471 T T T 0.090 0.445 0.358 0.108 T T T T D D 2.987 23.400 0.993 D D 0.014 2.563 0.185 3.110 1.000 0.707 0.725 0.725 0.711 . 5.210 5.210 7.962 1.138 0.665 1.000 1.000 0.969 779 Sorting_nexin_Vps5-like,_C-terminal . . . SNX5 182 0 114 13 0.102362204724409 TRUE TRUE +ENSG00000088320.4 . BCM GRCh38.p13 chr20 31477881 31477881 + G G T Missense_Mutation SNP ENST00000201979.3 exon3 c.G394T p.V132F exonic ENSG00000088320.4 . nonsynonymous SNV ENSG00000088320.4:ENST00000201979.3:exon3:c.G394T:p.V132F 20q11.21 C3N-01200 . . . . . . . . . 10.20 D T B B D D L T D 0.874 T T D 0.631 0.562 0.734 0.347 T T D D D T 3.187 23.800 0.993 D D 0.109 2.921 0.212 3.242 0.244 0.554 0.563 0.578 0.568 . 4.500 3.500 5.325 1.176 0.676 1.000 0.997 0.946 646 Small_GTP-binding_protein_domain . . . REM1 200 0 142 30 0.174418604651163 TRUE TRUE +ENSG00000101096.20 . BCM GRCh38.p13 chr20 51516806 51516806 + G G T Missense_Mutation SNP ENST00000396009.7 exon3 c.C1310A p.T437N exonic ENSG00000101096.20 . nonsynonymous SNV ENSG00000101096.20:ENST00000396009.7:exon3:c.C1310A:p.T437N 20q13.2 C3N-01200 . . . . . . . . . 6.20 T T B B D D N T N 0.446 T T T 0.091 0.323 0.296 0.502 T T T T D D 2.570 22.600 0.977 D D -0.043 2.362 0.095 2.715 1.000 0.563 0.654 0.602 0.636 . 5.250 5.250 6.673 1.176 0.676 1.000 0.739 0.298 956 Rel_homology_domain_(RHD),_DNA-binding_domain . . . NFATC2 94 0 79 18 0.185567010309278 TRUE TRUE +ENSG00000206106.2 . BCM GRCh38.p13 chr21 30590246 30590246 + C C A Missense_Mutation SNP ENST00000382830.2 exon1 c.G129T p.K43N exonic ENSG00000206106.2 . nonsynonymous SNV ENSG00000206106.2:ENST00000382830.2:exon1:c.G129T:p.K43N 21q22.11 C3N-01200 . . . . . . . . . 2.12 . . . . U N . . D 0.060 T T T 0.028 0.217 0.030 . . T T T D . 1.246 13.990 0.960 N N -0.550 1.080 -0.739 0.844 0.000 0.487 0.574 0.574 0.564 . 3.120 1.130 -0.060 0.860 0.599 0.000 0.009 0.019 518 . . . ID=COSV66962843;OCCURENCE=1(large_intestine) KRTAP22-2 98 1 81 6 0.0689655172413793 TRUE TRUE +ENSG00000160255.18 . BCM GRCh38.p13 chr21 44901670 44901670 + C C T Missense_Mutation SNP ENST00000652462.1 exon6 c.G563A p.R188Q exonic ENSG00000160255.18 . nonsynonymous SNV ENSG00000160255.18:ENST00000652462.1:exon6:c.G563A:p.R188Q 21q22.3 C3N-01200 . . . . . . . . rs1053155608 4.16 T T . . . N . D N 0.183 T D D 0.086 0.394 0.867 0.374 T T T T T D 0.400 5.426 0.988 N N -0.934 0.479 -1.019 0.466 1.000 0.672 0.702 0.602 0.568 . 4.140 -1.160 -0.604 -0.340 -0.176 0.000 0.693 0.018 900 Integrin_beta_subunit,_VWA_domain . . ID=COSV100186060;OCCURENCE=1(large_intestine) ITGB2 179 0 117 22 0.158273381294964 TRUE NA +ENSG00000173638.19 . BCM GRCh38.p13 chr21 45531692 45531692 + C C A Missense_Mutation SNP ENST00000311124.9 exon3 c.G646T p.D216Y exonic ENSG00000173638.19 . nonsynonymous SNV ENSG00000173638.19:ENST00000311124.9:exon3:c.G646T:p.D216Y 21q22.3 C3N-01200 . . . . . . . . . 7.20 D D D P N N L D N 0.262 T D D 0.330 0.457 0.798 1.516 T T T T D T 1.295 14.350 0.985 N N -0.532 1.114 -0.726 0.863 0.998 0.707 0.577 0.723 0.714 . 4.380 0.303 -1.213 -0.794 -1.015 0.000 0.001 0.002 600 . . . . SLC19A1 162 0 125 26 0.172185430463576 TRUE TRUE +ENSG00000100330.16 . BCM GRCh38.p13 chr22 30019980 30019980 + T T - Frame_Shift_Del DEL ENST00000401950.7 exon17 c.2321delT p.L775Sfs*24 exonic ENSG00000100330.16 . frameshift deletion ENSG00000100330.16:ENST00000401950.7:exon17:c.2321delT:p.L775Sfs*24 22q12.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTMR3 375 0 254 41 0.138983050847458 TRUE TRUE +ENSG00000100078.4 . BCM GRCh38.p13 chr22 31137016 31137016 + A A C Missense_Mutation SNP ENST00000215885.4 exon5 c.T1091G p.F364C exonic ENSG00000100078.4 . nonsynonymous SNV ENSG00000100078.4:ENST00000215885.4:exon5:c.T1091G:p.F364C 22q12.2 C3N-01200 . . . . . . . . . 5.20 D D P B N N M T N 0.268 T T T 0.043 0.425 0.331 0.477 T T T T D T 2.553 22.500 0.993 D N 0.265 3.606 0.322 3.845 0.996 0.672 0.547 0.702 0.586 . 5.620 4.550 1.367 1.312 0.756 1.000 0.851 0.713 624 . . . . PLA2G3 68 0 42 7 0.142857142857143 TRUE TRUE +ENSG00000147044.21 . BCM GRCh38.p13 chrX 41853123 41853123 + C C T Missense_Mutation SNP ENST00000378163.6 exon2 c.G164A p.S55N exonic ENSG00000147044.21 . nonsynonymous SNV ENSG00000147044.21:ENST00000378163.6:exon2:c.G164A:p.S55N Xp11.4 C3N-01200 . . . . . . . . . 7.19 T T P B D D L T N 0.669 T T D 0.157 0.621 0.772 1.483 D T T T D D 2.313 21.600 0.987 D . . . . . 1.000 . . . . . 5.210 5.210 7.483 1.026 0.599 1.000 1.000 1.000 832 Protein_kinase_domain . . . CASK 241 0 168 31 0.155778894472362 TRUE TRUE +ENSG00000068400.13 . BCM GRCh38.p13 chrX 48993479 48993505 + CCCCATCCACGAGGGGCCCAGCTTGGG CCCCATCCACGAGGGGCCCAGCTTGGG - In_Frame_Del DEL ENST00000376423.8 exon6 c.380_406del p.A127_G135del exonic ENSG00000068400.13 . nonframeshift deletion ENSG00000068400.13:ENST00000376423.8:exon6:c.380_406del:p.A127_G135del Xp11.23 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIPAP1 173 1 105 9 0.0789473684210526 TRUE TRUE +ENSG00000204363.5 . BCM GRCh38.p13 chrX 52796551 52796553 + TAA TAA - In_Frame_Del DEL ENST00000375511.4 exon2 c.154_156del p.L52del exonic ENSG00000204363.5 . nonframeshift deletion ENSG00000204363.5:ENST00000375511.4:exon2:c.154_156del:p.L52del Xp11.22 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPANXN5 179 0 96 17 0.150442477876106 TRUE TRUE +ENSG00000187642.9 . BCM GRCh38.p13 chr1 978996 978996 + G G T Silent SNP ENST00000433179.3 exon1 c.C2034A p.V678V exonic ENSG00000187642.9 . synonymous SNV ENSG00000187642.9:ENST00000433179.3:exon1:c.C2034A:p.V678V 1p36.33 C3N-01200 0.0006 0.0097 0 0 0 0 0 0 rs372753735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PERM1 39 0 27 9 0.25 TRUE NA +ENSG00000173662.21 . BCM GRCh38.p13 chr1 6574990 6574990 + C C T Silent SNP ENST00000333172.11 exon3 c.C858T p.S286S exonic ENSG00000173662.21 . synonymous SNV ENSG00000173662.21:ENST00000333172.11:exon3:c.C858T:p.S286S 1p36.31 C3N-01200 0.0006 0.0039 0.0002 0 0 1.549e-05 0 0.0017 rs150390485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAS1R1 61 0 33 12 0.266666666666667 TRUE NA +ENSG00000241563.4 . BCM GRCh38.p13 chr1 10450238 10450238 + C C T Silent SNP ENST00000377049.4 exon1 c.C15T p.P5P exonic ENSG00000241563.4 . synonymous SNV ENSG00000241563.4:ENST00000377049.4:exon1:c.C15T:p.P5P 1p36.22 C3N-01200 5.173e-05 0.0002 8.675e-05 0 0 3.076e-05 0 7.616e-05 rs375806455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CORT 46 0 28 5 0.151515151515152 TRUE NA +ENSG00000155816.20 . BCM GRCh38.p13 chr1 240093228 240093228 + C C T Silent SNP ENST00000319653.14 exon1 c.C1119T p.D373D exonic ENSG00000155816.20 . synonymous SNV ENSG00000155816.20:ENST00000319653.14:exon1:c.C1119T:p.D373D 1q43 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMN2 45 0 28 4 0.125 TRUE TRUE +ENSG00000115267.8 . BCM GRCh38.p13 chr2 162272310 162272310 + C C T Silent SNP ENST00000649979.2 exon13 c.G2532A p.E844E exonic ENSG00000115267.8 . synonymous SNV ENSG00000115267.8:ENST00000649979.2:exon13:c.G2532A:p.E844E 2q24.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFIH1 261 0 179 26 0.126829268292683 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178554023 178554023 + T T G Silent SNP ENST00000591111.5 exon283 c.A84165C p.T28055T exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon283:c.A84165C:p.T28055T 2q31.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 166 0 129 12 0.0851063829787234 TRUE TRUE +ENSG00000151690.15 . BCM GRCh38.p13 chr2 190437355 190437355 + C C T Silent SNP ENST00000392328.6 exon3 c.C1326T p.L442L exonic ENSG00000151690.15 . synonymous SNV ENSG00000151690.15:ENST00000392328.6:exon3:c.C1326T:p.L442L 2q32.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MFSD6 198 0 128 53 0.292817679558011 TRUE TRUE +ENSG00000138778.13 . BCM GRCh38.p13 chr4 103161204 103161204 + T T C Silent SNP ENST00000265148.9 exon20 c.A2013G p.L671L exonic ENSG00000138778.13 . synonymous SNV ENSG00000138778.13:ENST00000265148.9:exon20:c.A2013G:p.L671L 4q24 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CENPE 80 0 57 19 0.25 TRUE TRUE +ENSG00000164129.12 . BCM GRCh38.p13 chr4 163351527 163351527 + T T C Silent SNP ENST00000338566.8 exon4 c.T1254C p.C418C exonic ENSG00000164129.12 . synonymous SNV ENSG00000164129.12:ENST00000338566.8:exon4:c.T1254C:p.C418C 4q32.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPY5R 223 0 121 29 0.193333333333333 TRUE TRUE +ENSG00000146433.8 . BCM GRCh38.p13 chr6 158629758 158629758 + G G A Silent SNP ENST00000367090.3 exon15 c.G1632A p.L544L exonic ENSG00000146433.8 . synonymous SNV ENSG00000146433.8:ENST00000367090.3:exon15:c.G1632A:p.L544L 6q25.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM181 109 0 49 16 0.246153846153846 TRUE TRUE +ENSG00000187186.15 . BCM GRCh38.p13 chr9 34665135 34665135 + G G A Silent SNP ENST00000421828.7 exon3 c.C163T p.L55L exonic ENSG00000187186.15 . synonymous SNV ENSG00000187186.15:ENST00000421828.7:exon3:c.C163T:p.L55L 9p13.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL162231.1 16 0 10 3 0.230769230769231 TRUE NA +ENSG00000277556.1 . BCM GRCh38.p13 chr9 104598883 104598883 + G G A Silent SNP ENST00000374779.3 exon1 c.C531T p.F177F exonic ENSG00000277556.1 . synonymous SNV ENSG00000277556.1:ENST00000374779.3:exon1:c.C531T:p.F177F 9q31.1 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV104688675;OCCURENCE=1(skin) OR13C5 303 0 207 16 0.0717488789237668 NA TRUE +ENSG00000120594.17 . BCM GRCh38.p13 chr10 20245427 20245427 + C C A Silent SNP ENST00000377252.5 exon13 c.C1395A p.L465L exonic ENSG00000120594.17 . synonymous SNV ENSG00000120594.17:ENST00000377252.5:exon13:c.C1395A:p.L465L 10p12.31 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLXDC2 152 0 76 14 0.155555555555556 TRUE TRUE +ENSG00000214787.10 . BCM GRCh38.p13 chr11 60229930 60229930 + C C T Silent SNP ENST00000398984.6 exon1 c.G126A p.R42R exonic ENSG00000214787.10 . synonymous SNV ENSG00000214787.10:ENST00000398984.6:exon1:c.G126A:p.R42R 11q12.2 C3N-01200 . . . . . . . . rs267603050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MS4A4E 232 0 134 23 0.146496815286624 TRUE TRUE +ENSG00000124942.14 . BCM GRCh38.p13 chr11 62527790 62527790 + T T A Silent SNP ENST00000378024.9 exon5 c.A6627T p.V2209V exonic ENSG00000124942.14 . synonymous SNV ENSG00000124942.14:ENST00000378024.9:exon5:c.A6627T:p.V2209V 11q12.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHNAK 525 0 341 68 0.166259168704156 NA TRUE +ENSG00000174233.11 . BCM GRCh38.p13 chr12 48774060 48774060 + G G T Silent SNP ENST00000307885.4 exon14 c.C2322A p.A774A exonic ENSG00000174233.11 . synonymous SNV ENSG00000174233.11:ENST00000307885.4:exon14:c.C2322A:p.A774A 12q13.12 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADCY6 187 0 88 30 0.254237288135593 TRUE NA +ENSG00000136451.9 . BCM GRCh38.p13 chr17 57983079 57983079 + G G T Silent SNP ENST00000581208.2 exon2 c.C348A p.I116I exonic ENSG00000136451.9 . synonymous SNV ENSG00000136451.9:ENST00000581208.2:exon2:c.C348A:p.I116I 17q22 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VEZF1 237 0 138 36 0.206896551724138 NA TRUE +ENSG00000074181.9 . BCM GRCh38.p13 chr19 15189032 15189032 + C C T Silent SNP ENST00000263388.7 exon8 c.G1335A p.T445T exonic ENSG00000074181.9 . synonymous SNV ENSG00000074181.9:ENST00000263388.7:exon8:c.G1335A:p.T445T 19p13.12 C3N-01200 1.803e-05 0.0002 0 0 0 0 0 0 rs568403807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54650413;OCCURENCE=2(large_intestine) NOTCH3 172 0 142 12 0.0779220779220779 TRUE TRUE +ENSG00000130669.17 . BCM GRCh38.p13 chr19 39173851 39173851 + C C T Silent SNP ENST00000593690.5 exon6 c.C939T p.D313D exonic ENSG00000130669.17 . synonymous SNV ENSG00000130669.17:ENST00000593690.5:exon6:c.C939T:p.D313D 19q13.2 C3N-01200 9.254e-06 0.0001 0 0 0 0 0 0 rs369018322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAK4 325 1 213 43 0.16796875 TRUE NA +ENSG00000105559.12 . BCM GRCh38.p13 chr19 48860385 48860385 + C C A Silent SNP ENST00000263265.11 exon6 c.G441T p.A147A exonic ENSG00000105559.12 . synonymous SNV ENSG00000105559.12:ENST00000263265.11:exon6:c.G441T:p.A147A 19q13.33 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHA4 154 0 105 15 0.125 TRUE NA +ENSG00000165259.14 . BCM GRCh38.p13 chrX 84475380 84475380 + T T C Silent SNP ENST00000373177.3 exon3 c.A18G p.V6V exonic ENSG00000165259.14 . synonymous SNV ENSG00000165259.14:ENST00000373177.3:exon3:c.A18G:p.V6V Xq21.1 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HDX 127 0 76 15 0.164835164835165 TRUE TRUE +ENSG00000117394.23 . BCM GRCh38.p13 chr1 42929364 42929364 + C C - Intron SNP NA NA NA NA intronic ENSG00000117394.23 . . . 1p34.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC2A1 250 0 155 34 0.17989417989418 TRUE NA +ENSG00000249008.1 . BCM GRCh38.p13 chr4 177246118 177246118 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000249008.1 . . . 4q34.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC097518.1 110 0 66 12 0.153846153846154 TRUE NA +ENSG00000160867.15 . BCM GRCh38.p13 chr5 177092946 177092947 + CT CT - Intron DEL NA NA NA NA intronic ENSG00000160867.15 . . . 5q35.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FGFR4 322 0 236 50 0.174825174825175 TRUE NA +ENSG00000128573.26 . BCM GRCh38.p13 chr7 114692712 114692713 + TG TG - 3'UTR DEL NA NA NA NA UTR3 ENSG00000128573.26 ENST00000350908.9:c.*2786_*2787delTG . . 7q31.1 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXP2 40 0 24 7 0.225806451612903 TRUE NA +ENSG00000229988.2 . BCM GRCh38.p13 chr11 5243220 5243220 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229988.2 . . . 11p15.4 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HBBP1 281 0 171 32 0.157635467980296 TRUE NA +ENSG00000284108.1 . BCM GRCh38.p13 chr11 61792537 61792537 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000284108.1 . . . 11q12.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR611 224 0 183 35 0.160550458715596 TRUE NA +ENSG00000172663.9 . BCM GRCh38.p13 chr11 67467473 67467473 + G G A Intron SNP NA NA NA NA intronic ENSG00000172663.9 . . . 11q13.2 C3N-01200 6.643e-05 0 0 0.0008 0 1.513e-05 0 0 rs201248558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM134 257 0 181 34 0.158139534883721 TRUE NA +ENSG00000110911.16 . BCM GRCh38.p13 chr12 50986716 50986716 + A A G Intron SNP NA NA NA NA intronic ENSG00000110911.16 . . . 12q13.12 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC11A2 132 0 103 19 0.155737704918033 TRUE NA +ENSG00000168398.6 . BCM GRCh38.p13 chr14 96204959 96204959 + G G T 5'UTR SNP NA NA NA NA UTR5 ENSG00000168398.6;ENSG00000258691.1 ENST00000554311.1:c.-32149G>T;ENST00000553811.1:c.-32149G>T . . 14q32.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BDKRB2 18 0 7 3 0.3 TRUE NA +ENSG00000175779.4 . BCM GRCh38.p13 chr15 38696704 38696704 + A A C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000175779.4 . . . 15q14 C3N-01200 . . . . . . . . . 2.17 . D B B . N N T D 0.435 T T T 0.031 0.166 0.081 0.019 . T T T T T 0.940 10.880 0.850 N N -1.213 0.218 -1.280 0.223 0.999 0.497 0.576 0.547 0.542 . 2.610 0.092 -0.135 -0.226 0.744 0.000 0.001 0.008 805 . . . . LINC02694 109 0 72 17 0.191011235955056 TRUE TRUE +ENSG00000283597.3 . BCM GRCh38.p13 chr15 98452009 98452009 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000283597.3 . . . 15q26.3 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM169B 107 0 72 4 0.0526315789473684 NA TRUE +ENSG00000256642.1 . BCM GRCh38.p13 chr16 34158773 34158773 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000256642.1 . . . 16p11.2 C3N-01200 0.0004 0 0 0 0 0 0 0.0005 rs772284609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00273 152 0 100 10 0.0909090909090909 TRUE NA +ENSG00000125144.14 . BCM GRCh38.p13 chr16 56667228 56667230 + AGA AGA - Intron DEL NA NA NA NA intronic ENSG00000125144.14 . . . 16q13 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MT1G 219 0 114 20 0.149253731343284 TRUE NA +ENSG00000167775.11 . BCM GRCh38.p13 chr19 8302258 8302258 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000167775.11 ENST00000301458.10:c.*205G>C . . 19p13.2 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD320 225 0 136 48 0.260869565217391 TRUE NA +ENSG00000124164.16 . BCM GRCh38.p13 chr20 58449009 58449009 + A A G 3'UTR SNP NA NA NA NA UTR3 ENSG00000124164.16 ENST00000475243.6:c.*4774A>G . . 20q13.32 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAPB 329 0 233 47 0.167857142857143 TRUE NA +ENSG00000040608.14 . BCM GRCh38.p13 chr22 20243524 20243524 + G G T Intron SNP NA NA NA NA intronic ENSG00000040608.14 . . . 22q11.21 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RTN4R 82 0 50 19 0.27536231884058 TRUE TRUE +ENSG00000178342.4 . BCM GRCh38.p13 chr18 79899669 79899670 + GC GC AG Unknown MNP ENST00000316249.3 exon2 c.1254_1255delinsAG p.Q419E exonic ENSG00000178342.4 . nonframeshift substitution ENSG00000178342.4:ENST00000316249.3:exon2:c.1254_1255delinsAG:p.Q419E 18q23 C3N-01200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNG2 106 0 56 14 0.2 TRUE TRUE +ENSG00000188976.11 . BCM GRCh38.p13 chr1 948512 948512 + T T A Missense_Mutation SNP ENST00000327044.7 exon13 c.A1535T p.N512I exonic ENSG00000188976.11 . nonsynonymous SNV ENSG00000188976.11:ENST00000327044.7:exon13:c.A1535T:p.N512I 1p36.33 C3N-01213 . . . . . . . . . 11.20 D T B B D D M T D 0.793 T T D 0.378 0.650 0.687 . T T D T D D 2.811 23.000 0.989 D D 0.073 2.780 0.159 2.991 1.000 0.737 0.702 0.733 0.714 . 5.530 5.530 3.875 1.117 0.634 1.000 0.753 0.108 934 . . . . NOC2L 210 0 195 40 0.170212765957447 TRUE TRUE +ENSG00000142609.18 . BCM GRCh38.p13 chr1 1930235 1930235 + A A G Missense_Mutation SNP ENST00000493964.5 exon26 c.T3113C p.V1038A exonic ENSG00000142609.18 . nonsynonymous SNV ENSG00000142609.18:ENST00000493964.5:exon26:c.T3113C:p.V1038A 1p36.33 C3N-01213 . . . . . . . . . 0.10 . T . . . . . . . 0.312 T T . 0.061 . 0.030 . . T T T T T 2.643 22.700 0.744 N N -0.221 1.818 -0.275 1.616 0.001 0.403 0.547 0.578 0.613 . 3.290 2.170 3.549 1.207 0.691 0.994 0.012 0.252 934 . . . . CFAP74 127 0 122 19 0.134751773049645 TRUE TRUE +ENSG00000116299.17 . BCM GRCh38.p13 chr1 109191808 109191808 + A A T Missense_Mutation SNP ENST00000369939.8 exon13 c.A1628T p.E543V exonic ENSG00000116299.17 . nonsynonymous SNV ENSG00000116299.17:ENST00000369939.8:exon13:c.A1628T:p.E543V 1p13.3 C3N-01213 . . . . . . . . . 6.20 D D P B N D L T D 0.335 T T T 0.056 0.398 0.289 0.263 T T T T D T 3.419 24.500 0.968 D N -0.186 1.915 -0.062 2.159 1.000 0.554 0.547 0.602 0.657 . 5.040 5.040 4.079 1.312 0.754 1.000 0.124 0.197 664 . . . . KIAA1324 153 0 136 32 0.19047619047619 TRUE TRUE +ENSG00000135870.12 . BCM GRCh38.p13 chr1 173983427 173983427 + G G - Frame_Shift_Del DEL ENST00000367696.7 exon4 c.583delC p.G196Dfs*9 exonic ENSG00000135870.12 . frameshift deletion ENSG00000135870.12:ENST00000367696.7:exon4:c.583delC:p.G196Dfs*9 1q25.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RC3H1 167 0 138 48 0.258064516129032 TRUE TRUE +ENSG00000162783.11 . BCM GRCh38.p13 chr1 181089857 181089857 + C C G Missense_Mutation SNP ENST00000367577.7 exon1 c.C955G p.P319A exonic ENSG00000162783.11 . nonsynonymous SNV ENSG00000162783.11:ENST00000367577.7:exon1:c.C955G:p.P319A 1q25.3 C3N-01213 . . . . . . . . . 3.20 T T P P U D L T N 0.121 T T T 0.086 0.689 0.043 0.686 T T T T D T 2.377 22.000 0.995 D N 0.163 3.142 0.224 3.305 1.000 0.789 0.522 0.768 0.562 . 4.620 4.620 1.646 0.087 -0.285 0.868 0.991 0.966 875 . . . . IER5 487 0 432 71 0.141153081510934 TRUE TRUE +ENSG00000158615.9 . BCM GRCh38.p13 chr1 204409562 204409562 + C C A Missense_Mutation SNP ENST00000367188.5 exon1 c.G1850T p.S617I exonic ENSG00000158615.9 . nonsynonymous SNV ENSG00000158615.9:ENST00000367188.5:exon1:c.G1850T:p.S617I 1q32.1 C3N-01213 . . . . . . . . . 0.15 T T . . N N . T N 0.068 T T T 0.026 0.425 0.263 0.126 T . T T T . 0.876 10.180 0.973 N N -0.727 0.767 -0.745 0.836 1.000 0.628 0.672 0.686 0.658 . 5.280 0.465 -0.134 -0.761 -0.177 0.000 0.850 0.993 622 . . . . PPP1R15B 166 2 163 33 0.168367346938776 TRUE TRUE +ENSG00000198049.7 . BCM GRCh38.p13 chr1 206116233 206116233 + T T C Missense_Mutation SNP ENST00000367126.5 exon1 c.A658G p.S220G exonic ENSG00000198049.7 . nonsynonymous SNV ENSG00000198049.7:ENST00000367126.5:exon1:c.A658G:p.S220G 1q32.1 C3N-01213 . . . . . . . . . 0.7 T T . . . . . T N 0.125 . . . . . . . . T . . . T 0.957 11.080 . . N . . . . . . . . . . . . 0.513 -0.144 -0.133 0.980 0.996 0.985 934 GPCR,_rhodopsin-like,_7TM . . . AVPR1B 198 0 185 37 0.166666666666667 TRUE TRUE +ENSG00000136643.12 . BCM GRCh38.p13 chr1 213241008 213241008 + G G A Missense_Mutation SNP ENST00000366960.8 exon11 c.G1532A p.S511N exonic ENSG00000136643.12 . nonsynonymous SNV ENSG00000136643.12:ENST00000366960.8:exon11:c.G1532A:p.S511N 1q32.3 C3N-01213 . . . . . . . . . 9.20 D T D P D D M T N 0.482 T T T 0.195 0.250 0.635 0.292 T T T T D D 3.697 25.400 0.993 D D 0.774 8.297 0.789 9.815 1.000 0.707 0.654 0.725 0.714 . 5.590 5.590 9.020 1.176 0.618 1.000 0.999 1.000 521 . . . . RPS6KC1 219 0 160 35 0.179487179487179 TRUE TRUE +ENSG00000154358.21 . BCM GRCh38.p13 chr1 228371024 228371024 + G G A Missense_Mutation SNP ENST00000422127.5 exon94 c.G20246A p.R6749H exonic ENSG00000154358.21 . nonsynonymous SNV ENSG00000154358.21:ENST00000422127.5:exon94:c.G20246A:p.R6749H 1q42.13 C3N-01213 8.95e-05 0 0 0 0 0.0002 0 0 rs201384897 11.19 D D D D . D M T D 0.284 T T D 0.381 . 0.838 0.543 T T T T T D 4.193 28.600 0.756 D D 0.624 6.178 0.551 5.661 1.000 0.581 0.574 0.576 0.613 . 4.900 4.900 6.520 1.176 0.676 1.000 0.961 0.326 428 . . . ID=COSV63075185;OCCURENCE=1(large_intestine),1(lung) OBSCN 41 0 40 12 0.230769230769231 NA TRUE +ENSG00000115760.14 . BCM GRCh38.p13 chr2 32594002 32594002 + C C - Frame_Shift_Del DEL ENST00000421745.6 exon67 c.13443delC p.Q4482Kfs*6 exonic ENSG00000115760.14 . frameshift deletion ENSG00000115760.14:ENST00000421745.6:exon67:c.13443delC:p.Q4482Kfs*6 2p22.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BIRC6 218 0 158 26 0.141304347826087 TRUE TRUE +ENSG00000003137.8 . BCM GRCh38.p13 chr2 72144053 72144053 + C C T Missense_Mutation SNP ENST00000001146.6 exon2 c.G365A p.R122H exonic ENSG00000003137.8 . nonsynonymous SNV ENSG00000003137.8:ENST00000001146.6:exon2:c.G365A:p.R122H 2p13.2 C3N-01213 . . . . . . . . . 6.20 T T B B N D L T D 0.302 T T D 0.100 0.736 0.724 1.231 T T T T D D 2.720 22.900 0.997 D N -0.065 2.287 0.010 2.395 1.000 0.677 0.563 0.378 0.601 . 4.330 3.440 1.751 1.026 0.599 0.997 0.998 0.988 915 . . . ID=COSV50012580;OCCURENCE=1(thyroid) CYP26B1 181 0 141 36 0.203389830508475 TRUE TRUE +ENSG00000144028.15 . BCM GRCh38.p13 chr2 96278547 96278547 + C C T Missense_Mutation SNP ENST00000323853.10 exon38 c.G5488A p.E1830K exonic ENSG00000144028.15 . nonsynonymous SNV ENSG00000144028.15:ENST00000323853.10:exon38:c.G5488A:p.E1830K 2q11.2 C3N-01213 . . . . . . . . . 12.20 T T B B D D M T D 0.835 T T D 0.479 0.653 0.580 2.238 D T D D D D 5.348 34 0.999 D D 0.427 4.512 0.521 5.360 1.000 0.707 0.702 0.725 0.714 . 5.090 5.090 7.418 1.026 0.599 1.000 0.999 0.989 291 Sec63_domain . . . SNRNP200 440 0 424 94 0.181467181467181 TRUE TRUE +ENSG00000182389.19 . BCM GRCh38.p13 chr2 152098985 152098985 + G G C Missense_Mutation SNP ENST00000539935.6 exon1 c.C27G p.N9K exonic ENSG00000182389.19 . nonsynonymous SNV ENSG00000182389.19:ENST00000539935.6:exon1:c.C27G:p.N9K 2q23.3 C3N-01213 . . . . . . . . . 5.20 D T B B N D N T N 0.477 T T D 0.195 0.096 0.770 0.790 D T T T T T 1.830 17.960 0.978 D N -0.665 0.873 -0.556 1.114 1.000 0.443 0.552 0.666 0.555 . 4.550 2.720 1.797 -0.329 -0.938 1.000 0.745 0.138 661 . . . . CACNB4 58 0 46 12 0.206896551724138 TRUE TRUE +ENSG00000182263.14 . BCM GRCh38.p13 chr2 163609658 163609658 + G G C Missense_Mutation SNP ENST00000333129.4 exon3 c.C2174G p.T725R exonic ENSG00000182263.14 . nonsynonymous SNV ENSG00000182263.14:ENST00000333129.4:exon3:c.C2174G:p.T725R 2q24.3 C3N-01213 . . . . . . . . . 15.20 D D B B D D L D N 0.590 D D D 0.513 0.375 0.625 0.708 T D D D D D 3.089 23.600 0.979 D D 0.253 3.548 0.433 4.604 1.000 0.707 0.574 0.725 0.655 . 5.890 5.890 8.190 1.176 0.676 1.000 0.998 0.993 860 Vps4_oligomerisation,_C-terminal . . . FIGN 196 1 212 38 0.152 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10149963 10149967 + TGAAG TGAAG - Nonstop_Mutation DEL ENST00000256474.3 exon3 c.640_644del p.*214delinsISVETYTVSSQLLMVLMSLDLDTGLVPSLVSKCLILRVK* exonic ENSG00000134086.8 . stoploss ENSG00000134086.8:ENST00000256474.3:exon3:c.640_644del:p.*214delinsISVETYTVSSQLLMVLMSLDLDTGLVPSLVSKCLILRVK* 3p25.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 428 0 301 48 0.137535816618911 TRUE NA +ENSG00000114650.20 . BCM GRCh38.p13 chr3 47414236 47414236 + C C T Missense_Mutation SNP ENST00000265565.10 exon22 c.G3538A p.D1180N exonic ENSG00000114650.20 . nonsynonymous SNV ENSG00000114650.20:ENST00000265565.10:exon22:c.G3538A:p.D1180N 3p21.31 C3N-01213 . . . . . . . . . 13.20 D D D D D D L T D 0.603 T T D 0.226 0.448 0.497 0.856 D T T T D D 3.946 26.600 0.999 D D 0.529 5.272 0.616 6.433 1.000 0.672 0.698 0.698 0.711 . 5.360 5.360 5.739 1.026 0.599 1.000 1.000 0.998 20 WD40-repeat-containing_domain . . . SCAP 489 0 362 107 0.228144989339019 TRUE NA +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52651789 52651790 + TT TT - Frame_Shift_Del DEL ENST00000296302.11 exon6 c.666_667del p.I223Nfs*2 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon6:c.666_667del:p.I223Nfs*2 3p21.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 103 0 29 8 0.216216216216216 TRUE TRUE +ENSG00000083937.9 . BCM GRCh38.p13 chr3 87253818 87253818 + A A T Missense_Mutation SNP ENST00000263780.9 exon6 c.A638T p.D213V exonic ENSG00000083937.9 . nonsynonymous SNV ENSG00000083937.9:ENST00000263780.9:exon6:c.A638T:p.D213V 3p11.2 C3N-01213 . . . . . . . . . 17.20 D D D D D D M D N 0.606 D D D 0.737 0.518 0.952 0.779 T T D D D D 4.131 28.000 0.994 D D 0.791 8.603 0.784 9.654 0.999 0.707 0.725 0.725 0.714 . 5.750 5.750 8.502 1.312 0.756 1.000 0.987 0.960 596 . . . . CHMP2B 261 0 179 30 0.143540669856459 TRUE TRUE +ENSG00000185621.11 . BCM GRCh38.p13 chr3 197960255 197960255 + G G T Nonsense_Mutation SNP ENST00000330198.8 exon1 c.G34T p.E12X exonic ENSG00000185621.11 . stopgain ENSG00000185621.11:ENST00000330198.8:exon1:c.G34T:p.E12X 3q29 C3N-01213 . . . . . . . . . 4.6 . . . . N D . . . 0.223 . . . . . . . . . D D . . 7.573 38 0.996 D N 0.868 10.258 0.658 7.041 1.000 0.025 0.219 0.240 0.250 . 4.220 4.220 3.928 1.176 0.674 0.987 0.163 0.789 929 . . . . LMLN 91 0 99 24 0.195121951219512 TRUE NA +ENSG00000075539.15 . BCM GRCh38.p13 chr4 48561600 48561600 + A A T Missense_Mutation SNP ENST00000358350.9 exon33 c.T3733A p.L1245M exonic ENSG00000075539.15 . nonsynonymous SNV ENSG00000075539.15:ENST00000358350.9:exon33:c.T3733A:p.L1245M 4p11 C3N-01213 . . . . . . . . . 8.20 D T D D D D L T N 0.548 T T T 0.213 0.319 0.162 0.621 D T T T D D 0.311 4.411 0.957 N N -0.698 0.816 -0.881 0.646 0.992 0.707 0.725 0.651 0.714 . 5.820 -6.290 -0.554 -0.038 -0.065 0.017 0.981 0.826 132 Cell_morphogenesis_central_region . . . FRYL 102 0 67 22 0.247191011235955 TRUE TRUE +ENSG00000138722.10 . BCM GRCh38.p13 chr4 89936102 89936102 + G G T Missense_Mutation SNP ENST00000264790.7 exon6 c.G2422T p.G808C exonic ENSG00000138722.10 . nonsynonymous SNV ENSG00000138722.10:ENST00000264790.7:exon6:c.G2422T:p.G808C 4q22.1 C3N-01213 . . . . . . . . . 3.20 D T D B N N N T N 0.294 T T D 0.097 0.325 0.562 0.025 T T T T T T 1.498 15.720 0.976 N N -0.488 1.199 -0.575 1.083 0.000 0.672 0.574 0.574 0.711 . 5.070 2.050 0.625 1.176 0.676 0.012 0.674 0.502 871 . . . . MMRN1 105 0 59 11 0.157142857142857 TRUE TRUE +ENSG00000197410.14 . BCM GRCh38.p13 chr4 154321026 154321026 + - NA T Frame_Shift_Ins NA ENST00000357232.10 exon9 c.4372dupA p.T1458Nfs*8 exonic ENSG00000197410.14 . frameshift insertion ENSG00000197410.14:ENST00000357232.10:exon9:c.4372dupA:p.T1458Nfs*8 4q31.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCHS2 NA NA NA NA NA NA NA +ENSG00000218336.9 . BCM GRCh38.p13 chr4 182628885 182628885 + T T A Missense_Mutation SNP ENST00000511685.6 exon5 c.T984A p.F328L exonic ENSG00000218336.9 . nonsynonymous SNV ENSG00000218336.9:ENST00000511685.6:exon5:c.T984A:p.F328L 4q35.1 C3N-01213 . . . . . . . . . 7.19 D T B B . D L D N 0.660 T T D 0.493 0.426 0.520 0.315 D T T T T D 1.104 12.810 0.977 D N -0.684 0.840 -0.600 1.046 0.015 0.706 0.574 0.710 0.668 . 5.100 -1.780 0.185 -0.144 -0.692 0.981 0.978 0.912 974 . . . . TENM3 141 0 151 29 0.161111111111111 TRUE TRUE +ENSG00000124496.12 . BCM GRCh38.p13 chr6 42259650 42259652 + TTT TTT - In_Frame_Del DEL ENST00000372922.8 exon9 c.1956_1958del p.K653del exonic ENSG00000124496.12 . nonframeshift deletion ENSG00000124496.12:ENST00000372922.8:exon9:c.1956_1958del:p.K653del 6p21.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRERF1 350 0 291 66 0.184873949579832 TRUE TRUE +ENSG00000146247.14 . BCM GRCh38.p13 chr6 78958566 78958566 + T T C Missense_Mutation SNP ENST00000275034.5 exon32 c.A3691G p.I1231V exonic ENSG00000146247.14 . nonsynonymous SNV ENSG00000146247.14:ENST00000275034.5:exon32:c.A3691G:p.I1231V 6q14.1 C3N-01213 . . . . . . . . . 6.20 T T P B D D L T N 0.555 T T T 0.192 0.784 0.340 1.487 T T T T D D 3.114 23.700 0.998 D D 0.454 4.697 0.530 5.447 1.000 0.732 0.744 0.710 0.728 . 5.900 5.900 6.239 1.138 0.665 1.000 0.998 0.994 911 Bromodomain . . . PHIP 160 0 83 28 0.252252252252252 TRUE TRUE +ENSG00000112320.12 . BCM GRCh38.p13 chr6 107633715 107633715 + G G A Missense_Mutation SNP ENST00000317357.10 exon6 c.G871A p.G291R exonic ENSG00000112320.12 . nonsynonymous SNV ENSG00000112320.12:ENST00000317357.10:exon6:c.G871A:p.G291R 6q21 C3N-01213 . . . . . . . . rs977216080 14.20 D D D D D D M T D 0.785 T T D 0.465 0.443 0.206 . T T T D D D 4.152 28.200 0.999 D D 0.818 9.137 0.825 10.919 1.000 0.677 0.563 0.673 0.601 . 5.820 5.820 7.404 1.176 0.676 1.000 1.000 1.000 734 . . . . SOBP 817 2 773 175 0.184599156118143 TRUE NA +ENSG00000182095.14 . BCM GRCh38.p13 chr7 5313426 5313426 + C C - Frame_Shift_Del DEL ENST00000430969.5 exon27 c.7465delG p.A2489Rfs*11 exonic ENSG00000182095.14 . frameshift deletion ENSG00000182095.14:ENST00000430969.5:exon27:c.7465delG:p.A2489Rfs*11 7p22.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNRC18 143 0 148 20 0.119047619047619 NA TRUE +ENSG00000106638.17 . BCM GRCh38.p13 chr7 73570949 73570950 + CC CC - Frame_Shift_Del DEL ENST00000305632.11 exon7 c.901_902del p.G301Yfs*26 exonic ENSG00000106638.17 . frameshift deletion ENSG00000106638.17:ENST00000305632.11:exon7:c.901_902del:p.G301Yfs*26 7q11.23 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBL2 83 0 97 21 0.177966101694915 TRUE TRUE +ENSG00000213265.8 . BCM GRCh38.p13 chr7 130679277 130679277 + G G A Nonsense_Mutation SNP ENST00000456951.5 exon6 c.C265T p.Q89X exonic ENSG00000213265.8 . stopgain ENSG00000213265.8:ENST00000456951.5:exon6:c.C265T:p.Q89X 7q32.2 C3N-01213 . . . . . . . . . 3.6 . . . . N A . . . 0.397 . . . . . . . . . D D . . 5.798 35 0.993 N N 0.452 4.687 0.227 3.317 0.946 0.487 0.574 0.574 0.542 . 4.980 3.180 0.778 0.130 -0.231 0.496 0.978 0.980 936 . . . . TSGA13 204 0 166 27 0.139896373056995 TRUE TRUE +ENSG00000122786.20 . BCM GRCh38.p13 chr7 134928828 134928828 + G G C Missense_Mutation SNP ENST00000361675.7 exon4 c.G146C p.R49P exonic ENSG00000122786.20 . nonsynonymous SNV ENSG00000122786.20:ENST00000361675.7:exon4:c.G146C:p.R49P 7q33 C3N-01213 . . . . . . . . . 14.20 D D D D N D M T D 0.838 T T D 0.542 0.501 0.702 0.214 T T D D D D 4.530 32 0.994 D D 0.868 10.259 0.845 11.575 1.000 0.672 0.547 0.693 0.711 . 5.550 5.550 8.477 1.176 0.676 1.000 1.000 0.994 684 . . . . CALD1 121 0 115 50 0.303030303030303 TRUE TRUE +ENSG00000131203.13 . BCM GRCh38.p13 chr8 39928175 39928175 + A A T Missense_Mutation SNP ENST00000518237.6 exon10 c.A1202T p.K401M exonic ENSG00000131203.13 . nonsynonymous SNV ENSG00000131203.13:ENST00000518237.6:exon10:c.A1202T:p.K401M 8p11.21 C3N-01213 . . . . . . . . . 1.20 T T B B N N M T N 0.184 T T T 0.020 0.224 0.323 0.045 T T T T T T 0.992 11.530 0.989 N N -0.796 0.660 -0.829 0.717 0.001 0.707 0.574 0.725 0.586 . 5.650 0.430 -0.595 0.116 0.756 0.000 0.070 0.781 916 . . . . IDO1 88 0 73 20 0.21505376344086 TRUE TRUE +ENSG00000147432.7 . BCM GRCh38.p13 chr8 42732206 42732206 + T T A Missense_Mutation SNP ENST00000289957.3 exon5 c.T899A p.L300Q exonic ENSG00000147432.7 . nonsynonymous SNV ENSG00000147432.7:ENST00000289957.3:exon5:c.T899A:p.L300Q 8p11.21 C3N-01213 . . . . . . . . . 19.20 D D D D D D H T D 0.939 D D D 0.908 0.773 0.946 0.876 D D D D D D 4.154 28.200 0.996 D D 1.030 14.898 0.937 15.415 1.000 0.487 0.574 0.547 0.613 . 5.850 5.850 8.017 1.138 0.665 1.000 0.968 0.988 350 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . CHRNB3 69 0 58 17 0.226666666666667 TRUE TRUE +ENSG00000137040.10 . BCM GRCh38.p13 chr9 6013495 6013495 + C C G Missense_Mutation SNP ENST00000259569.6 exon1 c.G2113C p.V705L exonic ENSG00000137040.10 . nonsynonymous SNV ENSG00000137040.10:ENST00000259569.6:exon1:c.G2113C:p.V705L 9p24.1 C3N-01213 . . . . . . . . . 4.20 T D B B U D N T N 0.302 T T T 0.034 0.327 0.331 0.080 T T T T T D 2.056 19.680 0.913 D N -0.516 1.144 -0.386 1.397 1.000 0.722 0.663 0.699 0.735 . 3.790 1.950 3.977 0.129 -0.182 1.000 1.000 0.994 412 . . . . RANBP6 177 0 165 29 0.149484536082474 NA TRUE +ENSG00000148219.16 . BCM GRCh38.p13 chr9 117214579 117214579 + C C T Missense_Mutation SNP ENST00000313400.8 exon3 c.G794A p.R265Q exonic ENSG00000148219.16 . nonsynonymous SNV ENSG00000148219.16:ENST00000313400.8:exon3:c.G794A:p.R265Q 9q33.1 C3N-01213 . . . . . . . . . 13.20 D D D D D D L T N 0.949 T T D 0.297 . 0.215 0.269 T T D D D D 3.937 26.600 0.999 D D 0.427 4.518 0.464 4.850 0.986 0.615 0.574 0.659 0.564 . 5.510 4.600 5.949 1.026 0.599 1.000 0.999 0.995 857 . . . ID=COSV57748006;OCCURENCE=3(large_intestine),1(ovary) ASTN2 66 0 59 18 0.233766233766234 TRUE TRUE +ENSG00000165643.11 . BCM GRCh38.p13 chr9 135695153 135695153 + C C T Missense_Mutation SNP ENST00000298466.9 exon6 c.G772A p.G258R exonic ENSG00000165643.11 . nonsynonymous SNV ENSG00000165643.11:ENST00000298466.9:exon6:c.G772A:p.G258R 9q34.3 C3N-01213 5.894e-05 0.0002 0 0 0 7.814e-05 0 0 rs146613743 0.20 T T B B N N L T N 0.107 T T T 0.009 . 0.102 0.040 T T T T T T 0.094 2.035 0.473 N N -1.445 0.100 -1.486 0.113 0.723 0.570 0.547 0.578 0.567 . 3.540 -0.743 -0.044 -0.961 -1.692 0.000 0.000 0.000 673 . . . . SOHLH1 254 0 266 43 0.13915857605178 TRUE NA +ENSG00000138190.17 . BCM GRCh38.p13 chr10 92909452 92909452 + G G A Missense_Mutation SNP ENST00000260762.10 exon6 c.G484A p.E162K exonic ENSG00000138190.17 . nonsynonymous SNV ENSG00000138190.17:ENST00000260762.10:exon6:c.G484A:p.E162K 10q23.33 C3N-01213 . . . . . . . . . 14.20 D D D D D D M T D 0.737 T T D 0.471 . 0.680 0.878 T D T T D D 4.201 28.700 0.999 D D 0.851 9.853 0.849 11.754 0.925 0.646 0.670 0.618 0.723 . 5.840 5.840 7.513 1.176 0.676 1.000 1.000 0.998 867 . . . . EXOC6 139 1 74 18 0.195652173913043 TRUE TRUE +ENSG00000107874.11 . BCM GRCh38.p13 chr10 102423847 102423847 + G G A Missense_Mutation SNP ENST00000369937.5 exon7 c.C607T p.R203C exonic ENSG00000107874.11 . nonsynonymous SNV ENSG00000107874.11:ENST00000369937.5:exon7:c.C607T:p.R203C 10q24.32 C3N-01213 0.0004 0.0036 8.657e-05 0.0001 0 0.0001 0 0.0004 rs190809867 3.20 T T B B N N L D N 0.128 T T D 0.148 . 0.718 0.570 T T T T T T 2.353 21.900 0.958 D N -0.581 1.022 -0.418 1.341 1.000 0.707 0.702 0.702 0.714 . 5.060 2.160 1.348 0.176 -0.212 0.980 0.997 0.976 741 . . . ID=COSV99192330;OCCURENCE=1(stomach) CUEDC2 68 0 100 7 0.0654205607476635 TRUE NA +ENSG00000120051.15 . BCM GRCh38.p13 chr10 104447789 104447789 + C C T Missense_Mutation SNP ENST00000369704.8 exon16 c.C2348T p.T783M exonic ENSG00000120051.15 . nonsynonymous SNV ENSG00000120051.15:ENST00000369704.8:exon16:c.C2348T:p.T783M 10q25.1 C3N-01213 7.907e-05 0 0 0 0 0.0001 0 0 rs140537135 5.19 D T B B D D . T N 0.416 T T D 0.069 . 0.173 0.045 T T T T T T 1.934 18.750 0.974 D N -0.400 1.382 -0.307 1.549 1.000 0.554 0.563 0.602 0.564 . 5.390 4.490 2.954 0.130 -0.187 0.991 0.005 0.002 170 . . . ID=COSV100866154;OCCURENCE=1(central_nervous_system),1(stomach) CFAP58 112 0 123 16 0.115107913669065 TRUE NA +ENSG00000184956.16 . BCM GRCh38.p13 chr11 1017145 1017145 + T T A Missense_Mutation SNP ENST00000421673.7 exon31 c.A5656T p.T1886S exonic ENSG00000184956.16 . nonsynonymous SNV ENSG00000184956.16:ENST00000421673.7:exon31:c.A5656T:p.T1886S 11p15.5 C3N-01213 . . . . . . . . . 4.18 D T D D . N M T N 0.225 T T T 0.043 0.150 0.519 0.422 T T T T T . 1.993 19.200 0.959 N N -0.393 1.398 -0.644 0.981 1.000 0.693 0.008 0.517 0.264 . 3.050 1.800 0.529 0.138 -0.167 0.029 0.001 0.001 825 . . . . MUC6 796 0 798 56 0.0655737704918033 NA TRUE +ENSG00000167311.14 . BCM GRCh38.p13 chr11 3640297 3640297 + C C G Missense_Mutation SNP ENST00000397068.8 exon2 c.G132C p.E44D exonic ENSG00000167311.14 . nonsynonymous SNV ENSG00000167311.14:ENST00000397068.8:exon2:c.G132C:p.E44D 11p15.4 C3N-01213 8.507e-06 0 0 0 0 1.561e-05 0 0 rs372759673 3.20 T T D D N N L T N 0.392 T T T 0.085 . 0.385 0.131 T T T T D T 3.005 23.400 0.998 N N -0.072 2.265 -0.013 2.316 0.431 0.648 0.590 0.693 0.564 . 6.070 5.170 0.404 0.128 -0.180 0.001 0.996 0.988 834 . . . . ART5 159 0 147 48 0.246153846153846 TRUE NA +ENSG00000214753.4 . BCM GRCh38.p13 chr11 62726763 62726763 + C C G Missense_Mutation SNP ENST00000301785.7 exon1 c.G394C p.A132P exonic ENSG00000214753.4;ENSG00000234857.2 . nonsynonymous SNV ENSG00000214753.4:ENST00000301785.7:exon1:c.G394C:p.A132P,ENSG00000234857.2:ENST00000403734.2:exon1:c.G394C:p.A132P 11q12.3 C3N-01213 . . . . . . . . . 1.20 T T B B N N L T N 0.092 T T D 0.077 0.173 0.419 0.639 T T T T T T 1.217 13.770 0.857 N N -0.757 0.719 -0.749 0.830 1.000 0.733 0.522 0.522 0.622 . 3.790 2.870 0.871 0.119 0.596 0.000 0.091 0.348 465 . . . . HNRNPUL2 194 0 164 38 0.188118811881188 TRUE TRUE +ENSG00000149452.16 . BCM GRCh38.p13 chr11 63014895 63014895 + C C A Missense_Mutation SNP ENST00000336232.7 exon2 c.G64T p.A22S exonic ENSG00000149452.16 . nonsynonymous SNV ENSG00000149452.16:ENST00000336232.7:exon2:c.G64T:p.A22S 11q12.3 C3N-01213 . . . . . . . . . 3.19 D D B B N N L T N 0.143 T T D 0.083 0.389 0.151 0.318 T T T T T T -0.958 0.010 0.975 N . -0.830 0.612 -1.023 0.461 0.947 0.497 0.563 0.547 0.542 . 4.760 -5.560 -1.978 -0.741 -0.201 0.000 0.000 0.001 804 . . . . SLC22A8 42 0 36 3 0.0769230769230769 TRUE NA +ENSG00000127329.15 . BCM GRCh38.p13 chr12 70562928 70562928 + A A T Missense_Mutation SNP ENST00000261266.9 exon14 c.T3430A p.L1144M exonic ENSG00000127329.15 . nonsynonymous SNV ENSG00000127329.15:ENST00000261266.9:exon14:c.T3430A:p.L1144M 12q15 C3N-01213 . . . . . . . . . 14.20 D D D D D D M T N 0.743 T T D 0.404 0.797 0.531 0.507 T T D D D D 3.577 25.000 0.997 D D 0.689 6.967 0.647 6.865 0.061 0.672 0.574 0.602 0.711 . 5.980 4.650 2.327 1.312 0.756 1.000 1.000 0.979 729 Fibronectin_type_III . . . PTPRB 300 0 308 57 0.156164383561644 TRUE TRUE +ENSG00000125952.20 . BCM GRCh38.p13 chr14 65076501 65076501 + T T A Missense_Mutation SNP ENST00000358664.9 exon5 c.A458T p.K153M exonic ENSG00000125952.20 . nonsynonymous SNV ENSG00000125952.20:ENST00000358664.9:exon5:c.A458T:p.K153M 14q23.3 C3N-01213 . . . . . . . . . 15.19 D D D D D D M D D 0.690 T T . 0.624 0.206 0.905 2.459 T T D D D D 4.198 28.600 0.997 D D 0.442 4.612 0.546 5.611 1.000 0.707 0.702 0.725 0.711 . 6.030 6.030 7.463 1.138 0.665 1.000 1.000 0.992 374 . . . . MAX 296 0 300 70 0.189189189189189 TRUE TRUE +ENSG00000185615.16 . BCM GRCh38.p13 chr16 284768 284768 + C C G Missense_Mutation SNP ENST00000219406.11 exon3 c.C516G p.D172E exonic ENSG00000185615.16 . nonsynonymous SNV ENSG00000185615.16:ENST00000219406.11:exon3:c.C516G:p.D172E 16p13.3 C3N-01213 1.278e-05 0 0 0 0 2.141e-05 0 0 rs374019509 0.20 T T B B N N N T N 0.204 T T T 0.042 . 0.227 . T T T T T T -1.775 0.001 0.722 N N -1.164 0.253 -1.375 0.164 0.925 0.581 0.514 0.576 0.605 . 3.750 -5.990 -7.801 -1.417 -0.777 0.000 0.007 0.031 753 . . . . PDIA2 51 0 43 7 0.14 TRUE NA +ENSG00000103174.13 . BCM GRCh38.p13 chr16 5030411 5030411 + A A C Missense_Mutation SNP ENST00000312251.8 exon4 c.T765G p.H255Q exonic ENSG00000103174.13 . nonsynonymous SNV ENSG00000103174.13:ENST00000312251.8:exon4:c.T765G:p.H255Q 16p13.3 C3N-01213 . . . . . . . . . 1.20 T T P P N N L T D 0.390 T T T 0.133 0.501 0.151 0.019 T T T T T T 0.395 5.366 0.556 N N -1.421 0.108 -1.619 0.070 1.000 0.706 0.710 0.723 0.714 . 5.090 -9.990 -2.404 -0.501 -0.576 0.000 0.192 0.652 867 Phosphodiester_glycosidase . . . NAGPA 462 0 465 82 0.149908592321755 TRUE TRUE +ENSG00000149925.21 . BCM GRCh38.p13 chr16 30069333 30069333 + G G C Missense_Mutation SNP ENST00000643777.3 exon6 c.G568C p.E190Q exonic ENSG00000149925.21;ENSG00000285043.1 . nonsynonymous SNV ENSG00000149925.21:ENST00000643777.3:exon6:c.G568C:p.E190Q,ENSG00000285043.1:ENST00000627059.2:exon11:c.G580C:p.E194Q 16p11.2 C3N-01213 . . . . . . . . . 19.20 D D D D D D H D D 0.914 D D D 0.899 0.898 0.979 . T D D D D D 3.990 26.900 0.999 D D 1.125 18.644 1.042 21.713 1.000 0.722 0.672 0.698 0.735 . 5.720 5.720 9.803 1.087 0.596 1.000 0.999 0.984 96 . . . . ALDOA 612 1 549 146 0.210071942446043 TRUE TRUE +ENSG00000177200.17 . BCM GRCh38.p13 chr16 53156839 53156839 + A A - Frame_Shift_Del DEL ENST00000447540.5 exon2 c.750delA p.N251Ifs*9 exonic ENSG00000177200.17 . frameshift deletion ENSG00000177200.17:ENST00000447540.5:exon2:c.750delA:p.N251Ifs*9 16q12.2 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD9 156 0 79 24 0.233009708737864 TRUE TRUE +ENSG00000102900.13 . BCM GRCh38.p13 chr16 56832375 56832375 + G G C Missense_Mutation SNP ENST00000308159.10 exon12 c.G1332C p.L444F exonic ENSG00000102900.13 . nonsynonymous SNV ENSG00000102900.13:ENST00000308159.10:exon12:c.G1332C:p.L444F 16q13 C3N-01213 . . . . . . . . . 13.20 D D P P D D M T D 0.901 T T D 0.309 0.707 0.775 1.107 D T D D D D 2.988 23.400 0.998 D N 0.258 3.569 0.193 3.148 0.963 0.707 0.725 0.725 0.714 . 5.800 2.530 0.156 1.176 0.676 0.924 1.000 0.996 519 . . . . NUP93 228 0 190 43 0.184549356223176 TRUE TRUE +ENSG00000249961.10 . BCM GRCh38.p13 chr16 66768115 66768115 + A A G Missense_Mutation SNP ENST00000433154.6 exon15 c.T1673C p.L558S exonic ENSG00000249961.10 . nonsynonymous SNV ENSG00000249961.10:ENST00000433154.6:exon15:c.T1673C:p.L558S 16q22.1 C3N-01213 . . . . . . . . . 3.16 . D B B . D M . . 0.207 T T T 0.074 0.263 0.402 . T T T T T T 2.313 21.600 0.977 N N -0.271 1.687 -0.079 2.109 0.001 0.487 0.574 0.574 0.613 . 5.400 3.180 1.851 1.312 0.756 0.998 1.000 1.000 67 . . . . TERB1 163 0 117 28 0.193103448275862 TRUE TRUE +ENSG00000183914.14 . BCM GRCh38.p13 chr17 7804336 7804336 + G G C Missense_Mutation SNP ENST00000572933.5 exon59 c.G9053C p.R3018T exonic ENSG00000183914.14 . nonsynonymous SNV ENSG00000183914.14:ENST00000572933.5:exon59:c.G9053C:p.R3018T 17p13.1 C3N-01213 . . . . . . . . . 13.20 D T D D D D L T D 0.674 T T D 0.465 0.409 0.646 1.099 T T D D D D 4.146 28.200 0.988 D D 0.668 6.693 0.686 7.490 1.000 0.497 0.590 0.547 0.530 . 5.610 5.610 6.096 1.071 0.604 1.000 1.000 0.998 273 Dynein_heavy_chain,_coiled_coil_stalk . . . DNAH2 438 0 388 92 0.191666666666667 TRUE TRUE +ENSG00000183077.15 . BCM GRCh38.p13 chr17 78205503 78205503 + C C T Missense_Mutation SNP ENST00000409257.9 exon8 c.C629T p.A210V exonic ENSG00000183077.15 . nonsynonymous SNV ENSG00000183077.15:ENST00000409257.9:exon8:c.C629T:p.A210V 17q25.3 C3N-01213 . . . . . . . . . 0.20 T T B B N N L T N 0.203 T T T 0.027 0.399 0.040 0.253 T T T T T T 0.078 1.897 0.119 N N -1.182 0.240 -1.245 0.248 0.021 0.706 0.702 0.710 0.636 . 4.350 -0.195 -0.768 0.129 -0.242 0.000 0.003 0.002 917 Alpha/beta_hydrolase_fold-3 . . ID=COSV59977289;OCCURENCE=1(pleura) AFMID 189 0 198 38 0.161016949152542 TRUE TRUE +ENSG00000101489.20 . BCM GRCh38.p13 chr18 37565548 37565548 + G G A Missense_Mutation SNP ENST00000420428.7 exon1 c.C94T p.H32Y exonic ENSG00000101489.20 . nonsynonymous SNV ENSG00000101489.20:ENST00000420428.7:exon1:c.C94T:p.H32Y 18q12.2 C3N-01213 . . . . . . . . . 4.20 T T P B N D L T N 0.330 T T T 0.127 0.245 0.591 1.594 T T T T D D 2.903 23.200 0.986 N D 0.095 2.866 0.262 3.500 1.000 0.598 0.563 0.504 0.639 . 4.730 4.730 6.553 1.176 0.676 1.000 1.000 0.998 863 . . . . CELF4 168 0 139 23 0.141975308641975 TRUE TRUE +ENSG00000105639.19 . BCM GRCh38.p13 chr19 17843051 17843051 + G G A Missense_Mutation SNP ENST00000527670.5 exon4 c.C542T p.P181L exonic ENSG00000105639.19 . nonsynonymous SNV ENSG00000105639.19:ENST00000527670.5:exon4:c.C542T:p.P181L 19p13.11 C3N-01213 1.756e-05 0 0 0 0 1.614e-05 0 6.153e-05 rs746488415 2.20 T T B B D N N T N 0.363 T T D 0.128 0.411 0.680 0.503 T T T T T T 1.462 15.490 0.336 N N -0.769 0.701 -0.669 0.944 1.000 0.672 0.702 0.607 0.605 . 4.920 2.760 1.987 0.972 0.522 0.987 0.183 0.048 958 0.000 . . ID=COSV71686814;OCCURENCE=1(large_intestine) JAK3 289 0 284 62 0.179190751445087 TRUE TRUE +ENSG00000198597.9 . BCM GRCh38.p13 chr19 30444907 30444907 + C C T Missense_Mutation SNP ENST00000355537.4 exon2 c.C1345T p.P449S exonic ENSG00000198597.9 . nonsynonymous SNV ENSG00000198597.9:ENST00000355537.4:exon2:c.C1345T:p.P449S 19q12 C3N-01213 . . . . . . . . . 6.20 T T B B D D N T N 0.553 T T T 0.127 0.464 0.082 0.870 T T T T D D 1.355 14.780 0.711 D D -0.275 1.677 -0.135 1.951 0.998 0.487 0.574 0.578 0.613 . 5.440 4.380 6.120 1.025 0.549 1.000 0.108 0.016 772 . . . . ZNF536 97 1 98 22 0.183333333333333 TRUE NA +ENSG00000196218.13 . BCM GRCh38.p13 chr19 38580085 38580085 + C C T Missense_Mutation SNP ENST00000359596.8 exon100 c.C14468T p.T4823M exonic ENSG00000196218.13 . nonsynonymous SNV ENSG00000196218.13:ENST00000359596.8:exon100:c.C14468T:p.T4823M 19q13.2 C3N-01213 3.296e-05 0.0002 0 0 0 2.998e-05 0 0 rs148540135 17.19 T . D D U D M D D 0.944 D D D 0.923 . 0.999 0.595 D D D D D D 3.347 24.300 0.959 D D 0.740 7.724 0.688 7.538 1.000 0.706 0.588 0.710 0.613 . 4.570 4.570 7.871 1.016 0.587 1.000 0.945 0.958 638 Ion_transport_domain . . ID=COSV62110645;OCCURENCE=1(large_intestine),1(central_nervous_system) RYR1 288 0 267 60 0.18348623853211 TRUE TRUE +ENSG00000104856.14 . BCM GRCh38.p13 chr19 45025354 45025354 + G G C Missense_Mutation SNP ENST00000221452.13 exon6 c.G688C p.V230L exonic ENSG00000104856.14 . nonsynonymous SNV ENSG00000104856.14:ENST00000221452.13:exon6:c.G688C:p.V230L 19q13.32 C3N-01213 . . . . . . . . . 14.20 D D P B D D M T D 0.617 T T D 0.463 0.751 0.656 0.903 D D D T D D 3.386 24.400 0.998 D D 0.579 5.714 0.630 6.619 1.000 0.706 0.702 0.710 0.636 . 5.000 5.000 9.416 1.143 0.662 1.000 0.999 0.985 906 Rel_homology_domain_(RHD),_DNA-binding_domain . . . RELB 161 1 168 37 0.180487804878049 TRUE TRUE +ENSG00000010361.14 . BCM GRCh38.p13 chr19 49812628 49812628 + T T - Frame_Shift_Del DEL ENST00000313777.9 exon2 c.220delA p.S74Afs*20 exonic ENSG00000010361.14 . frameshift deletion ENSG00000010361.14:ENST00000313777.9:exon2:c.220delA:p.S74Afs*20 19q13.33 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FUZ 339 1 341 57 0.14321608040201 TRUE TRUE +ENSG00000258873.3 . BCM GRCh38.p13 chr19 57158330 57158330 + G G - Frame_Shift_Del DEL ENST00000554048.3 exon4 c.436delC p.Q146Kfs*23 exonic ENSG00000258873.3 . frameshift deletion ENSG00000258873.3:ENST00000554048.3:exon4:c.436delC:p.Q146Kfs*23 19q13.43 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUXA 80 0 63 10 0.136986301369863 TRUE TRUE +ENSG00000244588.5 . BCM GRCh38.p13 chr20 1248681 1248681 + T T G Missense_Mutation SNP ENST00000409241.5 exon13 c.T1460G p.L487R exonic ENSG00000244588.5 . nonsynonymous SNV ENSG00000244588.5:ENST00000409241.5:exon13:c.T1460G:p.L487R 20p13 C3N-01213 . . . . . . . . . 5.19 D T P B . N M T N 0.425 T T D 0.167 0.435 0.273 . T T T T T D 2.499 22.400 0.979 D N -0.413 1.355 -0.445 1.293 0.131 0.554 0.590 0.574 0.568 . 5.410 1.750 1.217 0.175 -0.169 0.873 0.727 0.929 905 . . . . RAD21L1 104 0 51 9 0.15 TRUE TRUE +ENSG00000170471.15 . BCM GRCh38.p13 chr20 38567167 38567167 + A A - Frame_Shift_Del DEL ENST00000262879.11 exon26 c.3889delA p.K1297Nfs*5 exonic ENSG00000170471.15 . frameshift deletion ENSG00000170471.15:ENST00000262879.11:exon26:c.3889delA:p.K1297Nfs*5 20q11.23 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RALGAPB 151 0 89 20 0.18348623853211 TRUE TRUE +ENSG00000101040.19 . BCM GRCh38.p13 chr20 47310096 47310096 + T T G Missense_Mutation SNP ENST00000311275.11 exon3 c.A134C p.K45T exonic ENSG00000101040.19 . nonsynonymous SNV ENSG00000101040.19:ENST00000311275.11:exon3:c.A134C:p.K45T 20q13.12 C3N-01213 . . . . . . . . . 12.20 D D D D D D L T D 0.657 T T D 0.337 0.353 0.362 2.539 T T T T D D 4.079 27.600 0.998 D D 0.672 6.738 0.695 7.656 1.000 0.722 0.725 0.696 0.735 . 5.550 5.550 7.674 1.138 0.665 1.000 1.000 0.998 745 . . . . ZMYND8 320 0 247 48 0.16271186440678 TRUE TRUE +ENSG00000100095.19 . BCM GRCh38.p13 chr22 26306075 26306075 + C C T Missense_Mutation SNP ENST00000248933.11 exon6 c.C1445T p.T482M exonic ENSG00000100095.19 . nonsynonymous SNV ENSG00000100095.19:ENST00000248933.11:exon6:c.C1445T:p.T482M 22q12.1 C3N-01213 0.0004 0.0031 0.0012 0 0 3.001e-05 0 0 rs138692969 7.20 T T D D N D M T N 0.217 T T T 0.098 . 0.068 0.232 T T T T T D 2.335 21.800 0.998 D D 0.461 4.744 0.369 4.146 1.000 0.554 0.590 0.618 0.564 . 4.620 4.620 1.415 1.026 0.599 0.737 0.643 0.519 922 CUB_domain . . ID=COSV99962924;OCCURENCE=1(skin) SEZ6L 152 0 149 22 0.128654970760234 TRUE NA +ENSG00000100129.18 . BCM GRCh38.p13 chr22 37877855 37877855 + T T C Missense_Mutation SNP ENST00000652021.1 exon11 c.T1259C p.F420S exonic ENSG00000100129.18 . nonsynonymous SNV ENSG00000100129.18:ENST00000652021.1:exon11:c.T1259C:p.F420S 22q13.1 C3N-01213 . . . . . . . . . 17.20 D D D D D D M T D 0.995 D T D 0.840 0.864 0.778 2.298 D T D D D D 4.368 31 0.999 D D 0.852 9.887 0.760 9.037 1.000 0.672 0.702 0.702 0.711 . 5.070 5.070 7.978 1.138 0.652 1.000 0.998 0.978 797 Proteasome_component_(PCI)_domain . . . EIF3L 175 0 175 41 0.189814814814815 NA TRUE +ENSG00000133135.14 . BCM GRCh38.p13 chrX 106785086 106785086 + A A - Frame_Shift_Del DEL ENST00000255499.3 exon3 c.754delA p.A254Lfs*10 exonic ENSG00000133135.14 . frameshift deletion ENSG00000133135.14:ENST00000255499.3:exon3:c.754delA:p.A254Lfs*10 Xq22.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF128 40 0 20 3 0.130434782608696 NA TRUE +ENSG00000168491.10 . BCM GRCh38.p13 chr4 185461048 185461048 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000168491.10 ENST00000307588.8:exon5:c.348+1G>T . . 4q35.1 C3N-01213 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.739 32 0.995 D . 1.100 17.488 0.953 16.220 1.000 0.078 0.097 0.060 0.063 0.978 5.950 5.950 1.441 1.026 0.599 1.000 0.992 0.687 945 . . . . CCDC110 145 0 95 8 0.0776699029126214 NA TRUE +ENSG00000164318.18 . BCM GRCh38.p13 chr5 38427008 38427008 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000164318.18 ENST00000354891.7:exon14:c.1811-1G>T . . 5p13.1 C3N-01213 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.657 34 0.994 D . 1.137 19.297 0.960 16.570 1.000 0.074 0.063 0.060 0.074 0.969 5.760 5.760 9.525 1.172 0.672 1.000 0.877 0.589 851 . . . . EGFLAM 129 2 165 11 0.0625 TRUE NA +ENSG00000049192.15 . BCM GRCh38.p13 chr5 65451474 65451474 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000049192.15 ENST00000381055.8:exon7:c.1073+1G>C . . 5q12.3 C3N-01213 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.374 34 0.995 D . 1.173 21.523 1.019 20.028 1.000 0.099 0.105 0.063 0.118 0.985 5.130 5.130 7.687 1.026 0.599 1.000 1.000 1.000 376 . . . . ADAMTS6 188 0 140 8 0.0540540540540541 TRUE NA +ENSG00000180448.10 . BCM GRCh38.p13 chr19 1073147 1073147 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000180448.10 ENST00000313093.6:exon3:c.422-2A>T . . 19p13.3 C3N-01213 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.227 28.900 0.969 D . 0.883 10.632 0.682 7.425 1.000 0.284 0.279 0.129 0.132 0.206 4.160 4.160 6.125 1.201 0.686 1.000 0.635 0.712 982 . . . . ARHGAP45 91 0 87 17 0.163461538461538 TRUE TRUE +ENSG00000169885.10 . BCM GRCh38.p13 chr1 1916759 1916759 + G G A Silent SNP ENST00000307786.8 exon4 c.G261A p.G87G exonic ENSG00000169885.10 . synonymous SNV ENSG00000169885.10:ENST00000307786.8:exon4:c.G261A:p.G87G 1p36.33 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CALML6 137 0 152 32 0.173913043478261 TRUE TRUE +ENSG00000142973.14 . BCM GRCh38.p13 chr1 46818751 46818751 + C C A Silent SNP ENST00000271153.8 exon12 c.C1473A p.V491V exonic ENSG00000142973.14 . synonymous SNV ENSG00000142973.14:ENST00000271153.8:exon12:c.C1473A:p.V491V 1p33 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP4B1 213 0 208 45 0.177865612648221 TRUE TRUE +ENSG00000162692.12 . BCM GRCh38.p13 chr1 100732650 100732650 + A A C Silent SNP ENST00000294728.7 exon7 c.A1758C p.G586G exonic ENSG00000162692.12 . synonymous SNV ENSG00000162692.12:ENST00000294728.7:exon7:c.A1758C:p.G586G 1p21.2 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VCAM1 60 0 78 18 0.1875 TRUE TRUE +ENSG00000163399.16 . BCM GRCh38.p13 chr1 116396717 116396717 + C C A Silent SNP ENST00000295598.10 exon14 c.C1956A p.V652V exonic ENSG00000163399.16 . synonymous SNV ENSG00000163399.16:ENST00000295598.10:exon14:c.C1956A:p.V652V 1p13.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP1A1 72 0 61 22 0.265060240963855 TRUE TRUE +ENSG00000117523.16 . BCM GRCh38.p13 chr1 171512199 171512199 + A A G Silent SNP ENST00000367742.7 exon2 c.A111G p.T37T exonic ENSG00000117523.16 . synonymous SNV ENSG00000117523.16:ENST00000367742.7:exon2:c.A111G:p.T37T 1q24.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRRC2C 101 0 54 13 0.194029850746269 NA TRUE +ENSG00000151360.10 . BCM GRCh38.p13 chr2 3681707 3681707 + T T A Silent SNP ENST00000252505.4 exon6 c.T372A p.I124I exonic ENSG00000151360.10 . synonymous SNV ENSG00000151360.10:ENST00000252505.4:exon6:c.T372A:p.I124I 2p25.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALLC 131 0 141 19 0.11875 TRUE TRUE +ENSG00000115484.15 . BCM GRCh38.p13 chr2 61880308 61880308 + A A G Silent SNP ENST00000394440.8 exon4 c.T357C p.S119S exonic ENSG00000115484.15 . synonymous SNV ENSG00000115484.15:ENST00000394440.8:exon4:c.T357C:p.S119S 2p15 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCT4 157 0 105 25 0.192307692307692 TRUE TRUE +ENSG00000163092.21 . BCM GRCh38.p13 chr2 167218249 167218249 + C C A Silent SNP ENST00000628543.2 exon3 c.C282A p.S94S exonic ENSG00000163092.21 . synonymous SNV ENSG00000163092.21:ENST00000628543.2:exon3:c.C282A:p.S94S 2q24.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIRP2 78 1 50 4 0.0740740740740741 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178739253 178739253 + C C T Silent SNP ENST00000591111.5 exon46 c.G13029A p.T4343T exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon46:c.G13029A:p.T4343T 2q31.2 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 45 0 45 8 0.150943396226415 TRUE NA +ENSG00000175054.16 . BCM GRCh38.p13 chr3 142466483 142466483 + A A G Silent SNP ENST00000350721.9 exon40 c.T6738C p.L2246L exonic ENSG00000175054.16 . synonymous SNV ENSG00000175054.16:ENST00000350721.9:exon40:c.T6738C:p.L2246L 3q23 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATR 187 0 122 49 0.286549707602339 TRUE TRUE +ENSG00000112996.11 . BCM GRCh38.p13 chr5 44809067 44809067 + C C T Silent SNP ENST00000507110.6 exon1 c.C105T p.D35D exonic ENSG00000112996.11 . synonymous SNV ENSG00000112996.11:ENST00000507110.6:exon1:c.C105T:p.D35D 5p12 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRPS30 242 1 215 32 0.129554655870445 TRUE NA +ENSG00000256453.2 . BCM GRCh38.p13 chr5 140671350 140671350 + A A T Silent SNP ENST00000542735.2 exon4 c.T1005A p.S335S exonic ENSG00000256453.2 . synonymous SNV ENSG00000256453.2:ENST00000542735.2:exon4:c.T1005A:p.S335S 5q31.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DND1 294 0 270 60 0.181818181818182 NA TRUE +ENSG00000154997.9 . BCM GRCh38.p13 chr7 55834452 55834452 + A A G Silent SNP ENST00000388975.4 exon6 c.T693C p.T231T exonic ENSG00000154997.9 . synonymous SNV ENSG00000154997.9:ENST00000388975.4:exon6:c.T693C:p.T231T 7p11.2 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEPTIN14 105 0 47 30 0.38961038961039 TRUE TRUE +ENSG00000189056.14 . BCM GRCh38.p13 chr7 103557062 103557062 + C C G Silent SNP ENST00000428762.6 exon38 c.G5712C p.T1904T exonic ENSG00000189056.14 . synonymous SNV ENSG00000189056.14:ENST00000428762.6:exon38:c.G5712C:p.T1904T 7q22.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RELN 228 0 189 37 0.163716814159292 TRUE TRUE +ENSG00000205060.11 . BCM GRCh38.p13 chr7 134294880 134294880 + G G A Silent SNP ENST00000378509.9 exon10 c.C949T p.L317L exonic ENSG00000205060.11 . synonymous SNV ENSG00000205060.11:ENST00000378509.9:exon10:c.C949T:p.L317L 7q33 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC35B4 197 0 195 100 0.338983050847458 TRUE TRUE +ENSG00000073910.22 . BCM GRCh38.p13 chr13 32294370 32294370 + G G T Silent SNP ENST00000542859.6 exon60 c.G8583T p.L2861L exonic ENSG00000073910.22 . synonymous SNV ENSG00000073910.22:ENST00000542859.6:exon60:c.G8583T:p.L2861L 13q13.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRY 310 0 277 63 0.185294117647059 TRUE TRUE +ENSG00000151322.19 . BCM GRCh38.p13 chr14 33800452 33800452 + C C T Silent SNP ENST00000356141.8 exon12 c.C2145T p.V715V exonic ENSG00000151322.19 . synonymous SNV ENSG00000151322.19:ENST00000356141.8:exon12:c.C2145T:p.V715V 14q13.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPAS3 134 0 118 32 0.213333333333333 TRUE TRUE +ENSG00000254585.5 . BCM GRCh38.p13 chr15 23644644 23644644 + G G C Silent SNP ENST00000650528.1 exon1 c.C3099G p.V1033V exonic ENSG00000254585.5 . synonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.C3099G:p.V1033V 15q11.2 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEL2 163 0 168 50 0.229357798165138 TRUE TRUE +ENSG00000066933.16 . BCM GRCh38.p13 chr15 71978269 71978269 + G G A Silent SNP ENST00000356056.10 exon12 c.C1746T p.I582I exonic ENSG00000066933.16 . synonymous SNV ENSG00000066933.16:ENST00000356056.10:exon12:c.C1746T:p.I582I 15q23 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61849557;OCCURENCE=1(urinary_tract),1(skin) MYO9A 197 0 111 8 0.0672268907563025 TRUE TRUE +ENSG00000132510.10 . BCM GRCh38.p13 chr17 7853123 7853123 + C C T Silent SNP ENST00000448097.6 exon21 c.C4734T p.C1578C exonic ENSG00000132510.10 . synonymous SNV ENSG00000132510.10:ENST00000448097.6:exon21:c.C4734T:p.C1578C 17p13.1 C3N-01213 8.374e-06 0 0 0 0 1.524e-05 0 0 rs758258171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54679490;OCCURENCE=1(large_intestine),1(endometrium) KDM6B 580 0 546 113 0.171471927162367 TRUE TRUE +ENSG00000168259.17 . BCM GRCh38.p13 chr17 42000570 42000570 + C C T Silent SNP ENST00000457167.9 exon2 c.G78A p.R26R exonic ENSG00000168259.17 . synonymous SNV ENSG00000168259.17:ENST00000457167.9:exon2:c.G78A:p.R26R 17q21.2 C3N-01213 8.306e-06 0 0 0 0 1.503e-05 0 0 rs782405460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJC7 71 0 50 12 0.193548387096774 TRUE NA +ENSG00000167210.17 . BCM GRCh38.p13 chr18 46477516 46477516 + G G T Silent SNP ENST00000441551.6 exon39 c.C6160A p.R2054R exonic ENSG00000167210.17 . synonymous SNV ENSG00000167210.17:ENST00000441551.6:exon39:c.C6160A:p.R2054R 18q21.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LOXHD1 192 0 180 47 0.20704845814978 TRUE TRUE +ENSG00000170929.6 . BCM GRCh38.p13 chr19 9093649 9093649 + C C T Silent SNP ENST00000641627.1 exon2 c.C405T p.I135I exonic ENSG00000170929.6 . synonymous SNV ENSG00000170929.6:ENST00000641627.1:exon2:c.C405T:p.I135I 19p13.2 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR1M1 226 0 223 63 0.22027972027972 TRUE NA +ENSG00000061656.10 . BCM GRCh38.p13 chr20 35616250 35616250 + C C A Silent SNP ENST00000374273.8 exon1 c.C247A p.R83R exonic ENSG00000061656.10 . synonymous SNV ENSG00000061656.10:ENST00000374273.8:exon1:c.C247A:p.R83R 20q11.22 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPAG4 58 0 69 13 0.158536585365854 TRUE TRUE +ENSG00000080839.12 . BCM GRCh38.p13 chr20 37032743 37032743 + C C G Silent SNP ENST00000373664.8 exon16 c.G2304C p.L768L exonic ENSG00000080839.12 . synonymous SNV ENSG00000080839.12:ENST00000373664.8:exon16:c.G2304C:p.L768L 20q11.23 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBL1 325 0 186 24 0.114285714285714 TRUE TRUE +ENSG00000156304.15 . BCM GRCh38.p13 chr21 31685104 31685104 + A A G Silent SNP ENST00000286835.12 exon19 c.T2433C p.P811P exonic ENSG00000156304.15 . synonymous SNV ENSG00000156304.15:ENST00000286835.12:exon19:c.T2433C:p.P811P 21q22.11 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCAF4 209 0 212 52 0.196969696969697 TRUE TRUE +ENSG00000165192.14 . BCM GRCh38.p13 chrX 15287906 15287906 + C C T Silent SNP ENST00000480796.6 exon6 c.G822A p.V274V exonic ENSG00000165192.14 . synonymous SNV ENSG00000165192.14:ENST00000480796.6:exon6:c.G822A:p.V274V Xp22.2 C3N-01213 4.739e-05 0 0 0 0 0 0 0.0005 rs775320558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASB11 38 0 33 21 0.388888888888889 TRUE NA +ENSG00000196338.13 . BCM GRCh38.p13 chrX 71169665 71169665 + C C T Silent SNP ENST00000358741.4 exon8 c.C2115T p.S705S exonic ENSG00000196338.13 . synonymous SNV ENSG00000196338.13:ENST00000358741.4:exon8:c.C2115T:p.S705S Xq13.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLGN3 167 0 192 12 0.0588235294117647 TRUE TRUE +ENSG00000183862.5 . BCM GRCh38.p13 chrX 151743673 151743673 + T T C Silent SNP ENST00000329903.4 exon6 c.T1170C p.D390D exonic ENSG00000183862.5 . synonymous SNV ENSG00000183862.5:ENST00000329903.4:exon6:c.T1170C:p.D390D Xq28 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100323754;OCCURENCE=1(lung) CNGA2 127 0 85 72 0.45859872611465 TRUE TRUE +ENSG00000143850.16 . BCM GRCh38.p13 chr1 204255639 204255639 + T T A Intron SNP NA NA NA NA intronic ENSG00000143850.16 . . . 1q32.1 C3N-01213 . . . . . . . . . 2.6 . . . . . D . . . . T T . 0.352 . . . . T . . . T 1.870 18.250 0.855 D . -0.095 2.190 0.064 2.591 1.000 0.102 0.085 0.123 0.057 0.843 5.000 5.000 3.939 1.049 0.665 1.000 1.000 1.000 728 . . . . PLEKHA6 155 0 134 41 0.234285714285714 TRUE TRUE +ENSG00000206344.7 . BCM GRCh38.p13 chr6 31202465 31202465 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000206344.7 . . . 6p21.33 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HCG27 351 0 320 78 0.195979899497487 TRUE TRUE +ENSG00000227681.5 . BCM GRCh38.p13 chr6 147729800 147729800 + G G C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000227681.5 . . . 6q24.3 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL033504.1 188 0 186 40 0.176991150442478 TRUE NA +ENSG00000168077.14 . BCM GRCh38.p13 chr8 27676583 27676583 + T T A IGR SNP NA NA NA NA intergenic ENSG00000168077.14;ENSG00000222862.2 dist=3565;dist=3253 . . 8p21.1 C3N-01213 . . . . . . . . . 1.15 D . B B . N . T N 0.140 T T T 0.039 0.264 0.296 . . . T T T T 0.539 6.909 0.754 N N -0.901 0.518 -1.000 0.489 0.991 0.503 0.574 0.602 0.655 . 2.600 1.210 0.141 0.022 0.580 0.023 0.074 0.262 513 . . . . SCARA3 168 0 91 21 0.1875 TRUE TRUE +ENSG00000095637.22 . BCM GRCh38.p13 chr10 95356203 95356203 + - NA A Intron SNP NA NA NA NA intronic ENSG00000095637.22 . . . 10q24.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORBS1 NA NA NA NA NA NA NA +ENSG00000171160.18 . BCM GRCh38.p13 chr10 97633424 97633433 + CCCGGCTGCC CCCGGCTGCC - 5'UTR DEL NA NA NA NA UTR5 ENSG00000171160.18 ENST00000307450.11:c.-13771_-13780delGGCAGCCGGG . . 10q24.2 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MORN4 469 0 356 53 0.12958435207824 TRUE NA +ENSG00000108018.15 . BCM GRCh38.p13 chr10 107164282 107164283 + GG GG TT Unknown MNP ENST00000263054.10 exon1 c.244_245delinsAA p.P82N exonic ENSG00000108018.15 . nonframeshift substitution ENSG00000108018.15:ENST00000263054.10:exon1:c.244_245delinsAA:p.P82N 10q25.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORCS1 98 27 134 27 0.167701863354037 TRUE TRUE +ENSG00000138623.10 . BCM GRCh38.p13 chr15 74433874 74433875 + GC GC AA Unknown MNP ENST00000261918.9 exon1 c.44_45delinsTT p.R15L exonic ENSG00000138623.10 . nonframeshift substitution ENSG00000138623.10:ENST00000261918.9:exon1:c.44_45delinsTT:p.R15L 15q24.1 C3N-01213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEMA7A 21 5 24 5 0.172413793103448 TRUE TRUE +ENSG00000198952.8 . BCM GRCh38.p13 chr1 156263430 156263430 + G G A Missense_Mutation SNP ENST00000361813.5 exon13 c.C1996T p.R666W exonic ENSG00000198952.8 . nonsynonymous SNV ENSG00000198952.8:ENST00000361813.5:exon13:c.C1996T:p.R666W 1q22 C3N-01214 3.302e-05 0.0002 8.639e-05 0 0 1.502e-05 0 0 rs773737710 11.20 D D D P D D L T D 0.923 T T D 0.309 0.536 0.647 1.010 T T T D T D 4.244 29.100 0.999 D D 0.380 4.224 0.370 4.152 1.000 0.707 0.702 0.702 0.714 . 5.800 3.870 2.390 1.176 0.676 1.000 1.000 0.987 290 DNA/RNA-binding_domain,_Est1-type . . . SMG5 147 0 128 9 0.0656934306569343 TRUE NA +ENSG00000133055.9 . BCM GRCh38.p13 chr1 203174588 203174588 + C C T Nonsense_Mutation SNP ENST00000255416.9 exon3 c.G350A p.W117X exonic ENSG00000133055.9 . stopgain ENSG00000133055.9:ENST00000255416.9:exon3:c.G350A:p.W117X 1q32.1 C3N-01214 9.249e-06 0 0 0 0 0 0 7.039e-05 rs776345367 5.6 . . . . D A . . . 0.194 . . . . . . . . . D D . . 7.735 39 0.996 D N 0.874 10.408 0.741 8.589 1.000 0.554 0.547 0.602 0.613 . 5.670 5.670 6.044 1.011 0.599 1.000 0.924 0.445 878 Fibronectin_type_III . . . MYBPH 114 0 101 9 0.0818181818181818 TRUE NA +ENSG00000152133.15 . BCM GRCh38.p13 chr2 37088395 37088395 + T T G Missense_Mutation SNP ENST00000409774.6 exon2 c.T80G p.M27R exonic ENSG00000152133.15 . nonsynonymous SNV ENSG00000152133.15:ENST00000409774.6:exon2:c.T80G:p.M27R 2p22.2 C3N-01214 . . . . . . . . . 8.12 . T . . D D . . . 0.809 T T D 0.393 . 0.294 . . . D D D T 3.287 24.100 0.984 D D 0.540 5.359 0.537 5.513 1.000 0.732 0.744 0.659 0.613 . 5.420 5.420 5.423 1.138 0.660 1.000 0.999 0.985 515 . . . . GPATCH11 27 0 71 4 0.0533333333333333 TRUE TRUE +ENSG00000188886.3 . BCM GRCh38.p13 chr2 96132671 96132671 + G G A Missense_Mutation SNP ENST00000342380.2 exon6 c.C506T p.A169V exonic ENSG00000188886.3 . nonsynonymous SNV ENSG00000188886.3:ENST00000342380.2:exon6:c.C506T:p.A169V 2q11.2 C3N-01214 0.0002 0.0004 0 0.0001 0.0005 0.0003 0 0.0001 rs138165928 4.20 T T D P N D L T N 0.213 T T D 0.291 . 0.629 0.199 T T T T T D 1.797 17.710 0.996 N N -0.149 2.025 -0.290 1.585 0.327 0.660 0.694 0.659 0.542 . 4.790 2.910 0.056 1.074 0.668 0.000 0.690 0.422 295 Peptidase,_metallopeptidase;Peptidase_M12A . . . ASTL 178 0 121 9 0.0692307692307692 TRUE TRUE +ENSG00000186448.15 . BCM GRCh38.p13 chr3 44644179 44644179 + C C A Missense_Mutation SNP ENST00000344387.9 exon6 c.C3049A p.Q1017K exonic ENSG00000186448.15 . nonsynonymous SNV ENSG00000186448.15:ENST00000344387.9:exon6:c.C3049A:p.Q1017K 3p21.31 C3N-01214 . . . . . . . . . 3.18 D D B B . D N T N 0.203 T T T 0.030 0.329 0.280 0.130 T T T T T . 1.445 15.380 0.942 N N -0.819 0.628 -0.711 0.883 0.009 0.651 0.709 0.651 0.528 . 3.820 2.930 -0.446 1.026 0.594 0.000 0.987 0.960 326 . . . . ZNF197 14 0 45 4 0.0816326530612245 TRUE NA +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52403839 52403839 + G G A Nonsense_Mutation SNP ENST00000460680.6 exon13 c.C1306T p.Q436X exonic ENSG00000163930.10 . stopgain ENSG00000163930.10:ENST00000460680.6:exon13:c.C1306T:p.Q436X 3p21.1 C3N-01214 . . . . . . . . . 5.6 . . . . D A . . . 0.994 . . . . . . . . . D D . . 7.532 38 0.997 D N 0.993 13.707 0.880 12.941 1.000 0.707 0.698 0.702 0.714 . 6.050 6.050 3.771 1.176 0.676 1.000 0.976 0.961 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . ID=COSV56231807;OCCURENCE=1(pleura),2(kidney) BAP1 202 0 158 13 0.0760233918128655 TRUE TRUE +ENSG00000154174.8 . BCM GRCh38.p13 chr3 100400650 100400658 + TTCAGGGTG TTCAGGGTG - In_Frame_Del DEL ENST00000284320.6 exon1 c.292_300del p.H98_E100del exonic ENSG00000154174.8 . nonframeshift deletion ENSG00000154174.8:ENST00000284320.6:exon1:c.292_300del:p.H98_E100del 3q12.2 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOMM70 482 0 407 34 0.0770975056689342 TRUE TRUE +ENSG00000205678.8 . BCM GRCh38.p13 chr4 64409224 64409224 + G G A Missense_Mutation SNP ENST00000381210.8 exon1 c.C128T p.A43V exonic ENSG00000205678.8 . nonsynonymous SNV ENSG00000205678.8:ENST00000381210.8:exon1:c.C128T:p.A43V 4q13.1 C3N-01214 . . . . . . . . . 5.20 D D P B N N N T N 0.392 T T T 0.125 0.317 0.539 0.023 T T T T D T 2.313 21.600 0.999 D D -0.038 2.379 -0.012 2.320 0.000 0.487 0.574 0.574 0.564 . 4.990 4.140 4.998 1.140 0.676 1.000 0.298 0.013 975 . . . . TECRL 239 1 293 21 0.0668789808917197 TRUE TRUE +ENSG00000138792.10 . BCM GRCh38.p13 chr4 110476685 110476685 + T T - Frame_Shift_Del DEL ENST00000265162.10 exon1 c.271delT p.R92Dfs*15 exonic ENSG00000138792.10 . frameshift deletion ENSG00000138792.10:ENST00000265162.10:exon1:c.271delT:p.R92Dfs*15 4q25 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENPEP 532 0 476 39 0.0757281553398058 NA TRUE +ENSG00000168671.10 . BCM GRCh38.p13 chr5 36049202 36049202 + A A G Missense_Mutation SNP ENST00000282507.8 exon4 c.T530C p.L177P exonic ENSG00000168671.10 . nonsynonymous SNV ENSG00000168671.10:ENST00000282507.8:exon4:c.T530C:p.L177P 5p13.2 C3N-01214 . . . . . . . . . 7.20 D D D D U N M T D 0.367 T T T 0.205 0.687 0.283 0.185 T T T T D T 2.383 22.000 0.995 N N -0.182 1.929 -0.473 1.246 0.044 0.737 0.574 0.733 0.564 . 3.030 0.531 0.453 1.312 0.756 0.000 0.436 0.608 725 . . . . UGT3A2 180 0 141 12 0.0784313725490196 NA TRUE +ENSG00000164334.15 . BCM GRCh38.p13 chr5 119634427 119634427 + G G A Missense_Mutation SNP ENST00000515256.5 exon3 c.G679A p.G227S exonic ENSG00000164334.15 . nonsynonymous SNV ENSG00000164334.15:ENST00000515256.5:exon3:c.G679A:p.G227S 5q23.1 C3N-01214 8.284e-05 0.0006 0 0 0 5.997e-05 0 0 rs200551505 14.20 D D D D D D M T D 0.887 T T D 0.396 . 0.072 . T T T D D D 3.928 26.500 0.999 D D 0.702 7.149 0.645 6.836 0.619 0.554 0.573 0.602 0.564 . 4.890 4.890 4.957 1.172 0.672 1.000 0.796 0.897 950 . . . ID=COSV58923918;OCCURENCE=2(lung) FAM170A 260 1 225 22 0.0890688259109312 TRUE NA +ENSG00000113073.15 . BCM GRCh38.p13 chr5 140372787 140372787 + T T A Missense_Mutation SNP ENST00000507527.1 exon21 c.T2941A p.S981T exonic ENSG00000113073.15 . nonsynonymous SNV ENSG00000113073.15:ENST00000507527.1:exon21:c.T2941A:p.S981T 5q31.3 C3N-01214 . . . . . . . . . 9.20 D T D D N D L T N 0.436 T D D 0.293 0.350 0.828 . T T T T D T 3.730 25.500 0.996 D D 0.428 4.522 0.467 4.869 1.000 0.526 0.616 0.547 0.584 . 5.390 5.390 4.479 1.138 0.665 1.000 1.000 0.997 155 . . . . SLC4A9 66 0 59 16 0.213333333333333 TRUE TRUE +ENSG00000171815.6 . BCM GRCh38.p13 chr5 141052394 141052394 + T T G Missense_Mutation SNP ENST00000306549.6 exon1 c.T924G p.D308E exonic ENSG00000171815.6 . nonsynonymous SNV ENSG00000171815.6:ENST00000306549.6:exon1:c.T924G:p.D308E 5q31.3 C3N-01214 . . . . . . . . . 16.20 D D D D D D H T D 0.580 D D D 0.416 0.809 0.826 1.136 T T D D D D 3.006 23.400 0.995 D N 0.788 8.543 0.674 7.284 0.963 0.598 0.588 0.596 0.564 . 6.170 5.000 0.570 1.138 0.665 1.000 0.991 0.877 219 Cadherin-like . . . PCDHB1 229 0 267 38 0.124590163934426 TRUE TRUE +ENSG00000164574.16 . BCM GRCh38.p13 chr5 154409756 154409756 + G G A Nonsense_Mutation SNP ENST00000297107.11 exon9 c.G1380A p.W460X exonic ENSG00000164574.16 . stopgain ENSG00000164574.16:ENST00000297107.11:exon9:c.G1380A:p.W460X 5q33.2 C3N-01214 . . . . . . . . . 5.6 . . . . D A . . . 0.376 . . . . . . . . . D D . . 8.635 44 0.996 D N 1.149 19.963 0.998 18.724 1.000 0.732 0.744 0.659 0.714 . 5.020 5.020 9.773 1.161 0.676 1.000 0.979 0.766 686 Ricin_B,_lectin_domain . . . GALNT10 251 0 262 14 0.0507246376811594 TRUE TRUE +ENSG00000155508.13 . BCM GRCh38.p13 chr5 154863343 154863343 + - NA CG Frame_Shift_Ins INS ENST00000517876.5 exon3 c.65_66insCG p.E22Dfs*4 exonic ENSG00000155508.13 . frameshift insertion ENSG00000155508.13:ENST00000517876.5:exon3:c.65_66insCG:p.E22Dfs*4 5q33.2 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNOT8 NA NA NA NA NA NA NA +ENSG00000176381.6 . BCM GRCh38.p13 chr6 166307272 166307272 + G G T Missense_Mutation SNP ENST00000322583.5 exon1 c.C871A p.H291N exonic ENSG00000176381.6 . nonsynonymous SNV ENSG00000176381.6:ENST00000322583.5:exon1:c.C871A:p.H291N 6q27 C3N-01214 . . . . . . . . . 10.19 D D D P . D M T D 0.566 T T D 0.163 0.203 0.222 1.261 D T T T D T 3.402 24.400 0.936 D N 0.164 3.148 0.045 2.520 1.000 0.598 0.093 0.504 0.639 . 3.530 3.530 3.167 0.978 0.584 1.000 0.287 0.019 994 . . . . PRR18 170 0 136 17 0.111111111111111 TRUE TRUE +ENSG00000136270.14 . BCM GRCh38.p13 chr7 45105740 45105740 + G G C Missense_Mutation SNP ENST00000258770.8 exon3 c.C436G p.L146V exonic ENSG00000136270.14 . nonsynonymous SNV ENSG00000136270.14:ENST00000258770.8:exon3:c.C436G:p.L146V 7p13 C3N-01214 . . . . . . . . . 9.19 T D D D D D . T N 0.702 T T T 0.287 0.701 0.596 0.829 T T D T D T 2.940 23.300 0.991 D D 0.421 4.476 0.333 3.917 1.000 0.672 0.702 0.702 0.711 . 5.760 5.760 3.100 1.176 0.676 1.000 0.018 0.007 712 . . . . TBRG4 132 0 124 8 0.0606060606060606 NA TRUE +ENSG00000186472.20 . BCM GRCh38.p13 chr7 82916080 82916080 + T T A Missense_Mutation SNP ENST00000333891.14 exon7 c.A11906T p.Y3969F exonic ENSG00000186472.20 . nonsynonymous SNV ENSG00000186472.20:ENST00000333891.14:exon7:c.A11906T:p.Y3969F 7q21.11 C3N-01214 . . . . . . . . . 4.17 T T P P . N . T N 0.587 T T T 0.220 . 0.518 0.034 T . T T D D 3.166 23.800 0.961 D D 0.501 5.042 0.568 5.844 0.086 0.554 0.574 0.618 0.564 . 5.850 5.850 8.017 1.138 0.665 1.000 0.998 0.997 874 . . . . PCLO 194 0 313 33 0.0953757225433526 TRUE NA +ENSG00000106348.18 . BCM GRCh38.p13 chr7 128394303 128394303 + - NA A Nonsense_Mutation SNP ENST00000338791.11 exon16 c.1752dupT p.E585* exonic ENSG00000106348.18 . stopgain ENSG00000106348.18:ENST00000338791.11:exon16:c.1752dupT:p.E585* 7q32.1 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IMPDH1 NA NA NA NA NA NA NA +ENSG00000064419.13 . BCM GRCh38.p13 chr7 128970194 128970194 + G G A Missense_Mutation SNP ENST00000265388.9 exon20 c.C2552T p.P851L exonic ENSG00000064419.13 . nonsynonymous SNV ENSG00000064419.13:ENST00000265388.9:exon20:c.C2552T:p.P851L 7q32.1 C3N-01214 . . . . . . . . . 13.20 D D P P D D L T D 0.781 T T D 0.445 0.510 0.866 0.817 D T D D D D 3.723 25.500 0.996 D D 0.619 6.121 0.707 7.894 1.000 0.707 0.702 0.725 0.714 . 5.790 5.790 9.895 1.158 0.656 1.000 0.996 0.985 509 . . . . TNPO3 267 0 280 25 0.0819672131147541 TRUE TRUE +ENSG00000083168.11 . BCM GRCh38.p13 chr8 41933608 41933608 + C C G Missense_Mutation SNP ENST00000265713.8 exon17 c.G4612C p.V1538L exonic ENSG00000083168.11 . nonsynonymous SNV ENSG00000083168.11:ENST00000265713.8:exon17:c.G4612C:p.V1538L 8p11.21 C3N-01214 . . . . . . . . . 13.20 D T D D D D L T N 0.542 T T D 0.282 0.128 0.639 0.184 D T D D D D 3.683 25.300 0.991 D D 0.727 7.518 0.767 9.217 1.000 0.707 0.702 0.698 0.714 . 5.760 5.760 7.376 1.026 0.599 1.000 0.999 0.992 521 . . . . KAT6A 331 0 312 18 0.0545454545454545 TRUE NA +ENSG00000131668.14 . BCM GRCh38.p13 chr9 93952322 93952322 + G G C Missense_Mutation SNP ENST00000253968.11 exon4 c.C607G p.Q203E exonic ENSG00000131668.14 . nonsynonymous SNV ENSG00000131668.14:ENST00000253968.11:exon4:c.C607G:p.Q203E 9q22.32 C3N-01214 . . . . . . . . . 13.20 T D P P D D L D N 0.297 D D D 0.526 0.262 0.848 2.081 D T D D D T 3.385 24.400 0.995 D D 0.491 4.968 0.545 5.598 1.000 0.765 0.596 0.732 0.639 . 5.670 5.670 4.009 1.172 0.672 1.000 1.000 0.971 881 Homeobox_domain . . . BARX1 171 0 124 18 0.126760563380282 TRUE TRUE +ENSG00000175764.14 . BCM GRCh38.p13 chr9 121870541 121870541 + C C G Missense_Mutation SNP ENST00000321582.9 exon7 c.G1959C p.K653N exonic ENSG00000175764.14 . nonsynonymous SNV ENSG00000175764.14:ENST00000321582.9:exon7:c.G1959C:p.K653N 9q33.2 C3N-01214 . . . . . . . . . 8.16 D D . . . D . T D 0.490 T T T 0.142 0.446 0.611 1.465 T T T T D D 3.525 24.800 0.999 D D 0.635 6.304 0.617 6.437 1.000 0.638 0.627 0.573 0.668 . 5.670 4.760 1.425 1.026 0.599 1.000 0.992 0.994 876 . . . . TTLL11 191 0 203 23 0.101769911504425 TRUE TRUE +ENSG00000137478.15 . BCM GRCh38.p13 chr11 72843320 72843320 + A A - Frame_Shift_Del DEL ENST00000409418.9 exon16 c.1536delT p.N512Kfs*23 exonic ENSG00000137478.15 . frameshift deletion ENSG00000137478.15:ENST00000409418.9:exon16:c.1536delT:p.N512Kfs*23 11q13.4 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FCHSD2 137 0 114 9 0.0731707317073171 NA TRUE +ENSG00000137672.13 . BCM GRCh38.p13 chr11 101504545 101504545 + C C G Missense_Mutation SNP ENST00000344327.8 exon2 c.G424C p.A142P exonic ENSG00000137672.13 . nonsynonymous SNV ENSG00000137672.13:ENST00000344327.8:exon2:c.G424C:p.A142P 11q22.1 C3N-01214 . . . . . . . . . 13.20 T T D D D D M T N 0.898 T T D 0.425 0.580 0.879 1.148 D T D D D D 3.322 24.200 0.997 D D 0.734 7.625 0.724 8.228 0.999 0.554 0.574 0.618 0.564 . 5.960 5.050 7.905 1.026 0.599 1.000 1.000 0.999 837 Ankyrin_repeat-containing_domain . . . TRPC6 228 0 228 16 0.0655737704918033 TRUE TRUE +ENSG00000139218.18 . BCM GRCh38.p13 chr12 45924789 45924789 + G G C Missense_Mutation SNP ENST00000369367.8 exon12 c.C3845G p.P1282R exonic ENSG00000139218.18 . nonsynonymous SNV ENSG00000139218.18:ENST00000369367.8:exon12:c.C3845G:p.P1282R 12q12 C3N-01214 . . . . . . . . . 13.20 D D D D D D M T D 0.644 T T D 0.424 0.379 0.297 0.287 T T T T D D 4.034 27.200 0.998 D D 0.783 8.453 0.752 8.855 1.000 0.707 0.725 0.725 0.714 . 5.010 5.010 8.222 1.176 0.676 1.000 0.988 0.905 839 . . . . SCAF11 143 0 150 15 0.0909090909090909 TRUE TRUE +ENSG00000156050.10 . BCM GRCh38.p13 chr14 73944408 73944408 + C C A Missense_Mutation SNP ENST00000286544.5 exon3 c.G852T p.K284N exonic ENSG00000156050.10 . nonsynonymous SNV ENSG00000156050.10:ENST00000286544.5:exon3:c.G852T:p.K284N 14q24.3 C3N-01214 . . . . . . . . . 0.16 T T . . N N . T N 0.218 T T T 0.055 . 0.085 0.092 T . T T T T 1.016 11.820 0.973 N N -0.653 0.893 -0.704 0.894 1.000 0.563 0.588 0.547 0.636 . 4.880 1.900 0.100 0.129 -0.182 0.046 0.056 0.387 409 . . . . FAM161B 95 0 93 7 0.07 TRUE TRUE +ENSG00000013523.11 . BCM GRCh38.p13 chr14 76808139 76808139 + C C T Nonsense_Mutation SNP ENST00000251089.8 exon3 c.G659A p.W220X exonic ENSG00000013523.11 . stopgain ENSG00000013523.11:ENST00000251089.8:exon3:c.G659A:p.W220X 14q24.3 C3N-01214 . . . . . . . . . 5.6 . . . . D A . . . 0.477 . . . . . . . . . D D . . 8.058 40 0.996 D N 1.018 14.490 0.869 12.472 1.000 0.719 0.723 0.725 0.674 . 5.490 5.490 4.093 1.026 0.599 1.000 0.998 0.969 939 . . . . ANGEL1 165 1 162 14 0.0795454545454545 TRUE TRUE +ENSG00000166825.14 . BCM GRCh38.p13 chr15 89805420 89805420 + A A G Missense_Mutation SNP ENST00000300060.7 exon3 c.T658C p.S220P exonic ENSG00000166825.14 . nonsynonymous SNV ENSG00000166825.14:ENST00000300060.7:exon3:c.T658C:p.S220P 15q26.1 C3N-01214 . . . . . . . . . 12.20 D D D D D D M T N 0.760 T T D 0.210 0.818 0.632 0.792 T T T T D D 3.545 24.900 0.997 D D 0.408 4.392 0.284 3.624 1.000 0.672 0.574 0.645 0.711 . 4.620 4.620 1.206 0.207 -0.095 0.430 0.961 0.412 448 Peptidase_M1,_membrane_alanine_aminopeptidase,_N-terminal . . . ANPEP 326 0 250 19 0.0706319702602231 TRUE TRUE +ENSG00000131746.13 . BCM GRCh38.p13 chr17 40496271 40496271 + G G A Missense_Mutation SNP ENST00000254051.11 exon2 c.C155T p.A52V exonic ENSG00000131746.13 . nonsynonymous SNV ENSG00000131746.13:ENST00000254051.11:exon2:c.C155T:p.A52V 17q21.2 C3N-01214 . . . . . . . . . 0.19 T T B B . N L T N 0.068 T T T 0.067 0.211 0.510 0.149 T T T T T T 1.567 16.160 0.954 N N -0.589 1.008 -0.373 1.422 1.000 0.497 0.547 0.547 0.542 . 5.430 4.380 0.398 1.166 0.665 0.002 0.966 0.896 265 . . . . TNS4 113 0 99 7 0.0660377358490566 NA TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8977489 8977489 + A A G Missense_Mutation SNP ENST00000397910.8 exon1 c.T3650C p.L1217P exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon1:c.T3650C:p.L1217P 19p13.2 C3N-01214 . . . . . . . . . 1.16 D T . . . N N T N 0.178 T T T 0.100 0.171 0.184 . T . T T T T 0.613 7.638 0.318 N N -0.877 0.549 -1.086 0.390 0.000 0.487 0.574 0.574 0.564 . 1.380 -1.540 -0.290 -0.097 0.413 0.000 0.002 0.151 911 . . . . MUC16 342 1 271 29 0.0966666666666667 TRUE TRUE +ENSG00000142233.12 . BCM GRCh38.p13 chr19 48663532 48663532 + G G C Missense_Mutation SNP ENST00000270235.9 exon6 c.C1036G p.Q346E exonic ENSG00000142233.12 . nonsynonymous SNV ENSG00000142233.12:ENST00000270235.9:exon6:c.C1036G:p.Q346E 19q13.33 C3N-01214 . . . . . . . . . 4.20 T D B B N D L T N 0.357 T T T 0.094 0.233 0.145 0.502 T T T T D T 1.837 18.010 0.976 D N -0.083 2.230 0.108 2.767 0.979 0.554 0.588 0.576 0.563 . 5.510 5.510 3.725 1.176 0.676 1.000 1.000 0.999 739 Netrin_domain . . . NTN5 165 0 139 17 0.108974358974359 TRUE TRUE +ENSG00000125844.16 . BCM GRCh38.p13 chr20 17620332 17620332 + C C A Missense_Mutation SNP ENST00000377813.6 exon18 c.G3546T p.E1182D exonic ENSG00000125844.16 . nonsynonymous SNV ENSG00000125844.16:ENST00000377813.6:exon18:c.G3546T:p.E1182D 20p12.1 C3N-01214 . . . . . . . . . 4.20 D T B B N D M T N 0.235 T T T 0.043 0.121 0.404 0.213 T T T T T T 2.071 19.790 0.997 D N -0.382 1.422 -0.300 1.565 0.786 0.707 0.725 0.725 0.711 . 5.650 2.420 0.644 1.026 0.599 0.997 0.955 0.393 889 . . . . RRBP1 217 0 191 20 0.0947867298578199 TRUE TRUE +ENSG00000102038.15 . BCM GRCh38.p13 chrX 129465943 129465943 + G G T Nonsense_Mutation SNP ENST00000371122.8 exon22 c.C2718A p.C906X exonic ENSG00000102038.15 . stopgain ENSG00000102038.15:ENST00000371122.8:exon22:c.C2718A:p.C906X Xq25 C3N-01214 . . . . . . . . . 5.5 . . . . D A . . . 0.876 . . . . . . . . . D D . . 7.625 38 0.992 D . . . . . 0.012 . . . . . 5.790 3.710 1.317 1.155 0.676 1.000 1.000 0.999 264 SANT_domain . . . SMARCA1 11 0 19 3 0.136363636363636 TRUE NA +ENSG00000102081.15 . BCM GRCh38.p13 chrX 147932591 147932591 + G G C Missense_Mutation SNP ENST00000370475.9 exon8 c.G797C p.G266A exonic ENSG00000102081.15 . nonsynonymous SNV ENSG00000102081.15:ENST00000370475.9:exon8:c.G797C:p.G266A Xq27.3 C3N-01214 . . . . . . . . . 13.19 D T D D D D L T D 0.850 T T D 0.619 0.913 0.810 2.087 D T D D D D 3.791 25.800 0.998 D . . . . . 1.000 . . . . . 5.780 5.780 9.526 1.176 0.618 1.000 1.000 0.997 728 K_Homology_domain,_type_1;K_Homology_domain . . . FMR1 40 0 106 24 0.184615384615385 TRUE TRUE +ENSG00000189292.16 . BCM GRCh38.p13 chr2 286127 286127 + A A G Silent SNP ENST00000403610.9 exon4 c.T384C p.P128P exonic ENSG00000189292.16 . synonymous SNV ENSG00000189292.16:ENST00000403610.9:exon4:c.T384C:p.P128P 2p25.3 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALKAL2 157 0 164 13 0.0734463276836158 TRUE TRUE +ENSG00000115053.16 . BCM GRCh38.p13 chr2 231455510 231455510 + A A G Silent SNP ENST00000322723.9 exon13 c.T1947C p.G649G exonic ENSG00000115053.16 . synonymous SNV ENSG00000115053.16:ENST00000322723.9:exon13:c.T1947C:p.G649G 2q37.1 C3N-01214 8.268e-06 0 0 0 0 0 0 6.071e-05 rs763956578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100502251;OCCURENCE=1(prostate) NCL 483 0 461 32 0.0649087221095335 TRUE NA +ENSG00000138463.9 . BCM GRCh38.p13 chr3 122833421 122833421 + C C A Silent SNP ENST00000261038.6 exon4 c.C808A p.R270R exonic ENSG00000138463.9 . synonymous SNV ENSG00000138463.9:ENST00000261038.6:exon4:c.C808A:p.R270R 3q21.1 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC49A4 191 0 210 17 0.0748898678414097 TRUE TRUE +ENSG00000048028.11 . BCM GRCh38.p13 chr11 113799261 113799261 + A A T Silent SNP ENST00000003302.8 exon25 c.T3213A p.V1071V exonic ENSG00000048028.11 . synonymous SNV ENSG00000048028.11:ENST00000003302.8:exon25:c.T3213A:p.V1071V 11q23.2 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP28 100 0 113 6 0.0504201680672269 TRUE NA +ENSG00000006831.10 . BCM GRCh38.p13 chr12 1780593 1780593 + C C T Silent SNP ENST00000357103.5 exon5 c.C606T p.H202H exonic ENSG00000006831.10 . synonymous SNV ENSG00000006831.10:ENST00000357103.5:exon5:c.C606T:p.H202H 12p13.33 C3N-01214 8.262e-06 0 0 0 0 1.502e-05 0 0 rs778643792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADIPOR2 104 0 106 11 0.094017094017094 TRUE NA +ENSG00000136021.19 . BCM GRCh38.p13 chr12 100317818 100317818 + C C T Silent SNP ENST00000360820.7 exon10 c.C1288T p.L430L exonic ENSG00000136021.19 . synonymous SNV ENSG00000136021.19:ENST00000360820.7:exon10:c.C1288T:p.L430L 12q23.1 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCYL2 11 0 55 5 0.0833333333333333 TRUE TRUE +ENSG00000090447.12 . BCM GRCh38.p13 chr16 4261944 4261944 + C C T Silent SNP ENST00000204517.11 exon4 c.G360A p.L120L exonic ENSG00000090447.12 . synonymous SNV ENSG00000090447.12:ENST00000204517.11:exon4:c.G360A:p.L120L 16p13.3 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TFAP4 78 0 60 5 0.0769230769230769 TRUE NA +ENSG00000177200.17 . BCM GRCh38.p13 chr16 53222752 53222752 + T T A Silent SNP ENST00000447540.5 exon4 c.T1893A p.S631S exonic ENSG00000177200.17 . synonymous SNV ENSG00000177200.17:ENST00000447540.5:exon4:c.T1893A:p.S631S 16q12.2 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD9 8 0 39 4 0.0930232558139535 TRUE NA +ENSG00000181323.8 . BCM GRCh38.p13 chr17 7421416 7421416 + C C A Silent SNP ENST00000323675.4 exon3 c.C741A p.V247V exonic ENSG00000181323.8 . synonymous SNV ENSG00000181323.8:ENST00000323675.4:exon3:c.C741A:p.V247V 17p13.1 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPEM1 89 0 89 12 0.118811881188119 TRUE TRUE +ENSG00000125872.8 . BCM GRCh38.p13 chr20 6041675 6041675 + G G A Silent SNP ENST00000378858.5 exon5 c.C1570T p.L524L exonic ENSG00000125872.8 . synonymous SNV ENSG00000125872.8:ENST00000378858.5:exon5:c.C1570T:p.L524L 20p12.3 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRN4 85 0 71 4 0.0533333333333333 TRUE TRUE +ENSG00000182872.16 . BCM GRCh38.p13 chrX 47169453 47169453 + G G A Silent SNP ENST00000377604.8 exon3 c.G156A p.E52E exonic ENSG00000182872.16 . synonymous SNV ENSG00000182872.16:ENST00000377604.8:exon3:c.G156A:p.E52E Xp11.3 C3N-01214 5.352e-05 0.0003 0 0 0 4.889e-05 0 0 rs781831956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM10 158 0 133 15 0.101351351351351 TRUE NA +ENSG00000109381.20 . BCM GRCh38.p13 chr4 139067661 139067661 + C C G Intron SNP NA NA NA NA intronic ENSG00000109381.20 . . . 4q31.1 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ELF2 31 0 60 8 0.117647058823529 TRUE NA +ENSG00000128585.18 . BCM GRCh38.p13 chr7 131399237 131399237 + G G C Intron SNP NA NA NA NA intronic ENSG00000128585.18 . . . 7q32.3 C3N-01214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MKLN1 77 0 152 26 0.146067415730337 TRUE NA +ENSG00000240707.3 . BCM GRCh38.p13 chr10 133073057 133073057 + C C T IGR SNP NA NA NA NA intergenic ENSG00000240707.3;ENSG00000256925.3 dist=96703;dist=10423 . . 10q26.3 C3N-01214 3.578e-05 0.0003 0 0 0 2.181e-05 0 0 rs750502940 1.13 . . B B N . . . . 0.132 T T T 0.090 0.110 0.043 . T . T T D T 1.214 13.750 0.776 N N -1.033 0.370 -1.170 0.309 0.000 0.054 0.063 0.045 0.063 . 1.660 -0.406 -0.121 0.604 0.434 0.000 0.004 0.002 988 . . . ID=COSV101658616;OCCURENCE=1(endometrium) LINC01168 290 0 255 20 0.0727272727272727 TRUE NA +ENSG00000183856.11 . BCM GRCh38.p13 chr1 156566514 156566514 + G G A Missense_Mutation SNP ENST00000361170.7 exon3 c.C158T p.P53L exonic ENSG00000183856.11 . nonsynonymous SNV ENSG00000183856.11:ENST00000361170.7:exon3:c.C158T:p.P53L 1q22 C3N-01220 . . . . . . . . . 15.20 D D D D D D H T D 0.593 D T D 0.542 0.531 0.851 0.633 T D T T D D 4.133 28.000 0.998 D D 1.055 15.750 0.973 17.270 1.000 0.732 0.710 0.744 0.714 . 5.420 5.420 9.998 1.176 0.676 1.000 0.992 0.907 657 Calponin_homology_domain . . ID=COSV63254652;OCCURENCE=1(skin) IQGAP3 171 0 153 46 0.231155778894472 TRUE TRUE +ENSG00000214694.11 . BCM GRCh38.p13 chr2 38954456 38954456 + G G - Frame_Shift_Del DEL ENST00000409978.6 exon13 c.1221delG p.N408Tfs*3 exonic ENSG00000214694.11 . frameshift deletion ENSG00000214694.11:ENST00000409978.6:exon13:c.1221delG:p.N408Tfs*3 2p22.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGEF33 195 0 92 15 0.14018691588785 TRUE NA +ENSG00000169564.7 . BCM GRCh38.p13 chr2 70088249 70088249 + C C T Missense_Mutation SNP ENST00000303577.7 exon1 c.C506T p.T169M exonic ENSG00000169564.7 . nonsynonymous SNV ENSG00000169564.7:ENST00000303577.7:exon1:c.C506T:p.T169M 2p13.3 C3N-01220 8.289e-06 0 0 0 0 1.511e-05 0 0 rs368303566 4.19 D T P B N D L T N 0.319 T T T 0.038 . 0.346 2.079 T T T T D D 3.134 23.700 0.991 N . 0.091 2.852 0.175 3.063 1.000 0.442 0.504 0.504 0.562 . 3.890 3.890 1.905 1.022 0.596 1.000 1.000 0.998 430 . . . . PCBP1 277 0 322 50 0.134408602150538 TRUE NA +ENSG00000075292.19 . BCM GRCh38.p13 chr2 71350152 71350152 + G G A Missense_Mutation SNP ENST00000264447.9 exon2 c.G1198A p.D400N exonic ENSG00000075292.19 . nonsynonymous SNV ENSG00000075292.19:ENST00000264447.9:exon2:c.G1198A:p.D400N 2p13.2 C3N-01220 . . . . . . . . . 3.20 T T P B N N N T N 0.185 T T T 0.095 0.168 0.103 0.122 T T T T D D 2.376 22.000 0.993 D N 0.106 2.910 0.223 3.300 1.000 0.737 0.725 0.733 0.711 . 5.850 4.980 2.313 1.176 0.676 1.000 1.000 1.000 707 . . . ID=COSV52485440;OCCURENCE=2(liver) ZNF638 327 0 142 20 0.123456790123457 TRUE TRUE +ENSG00000114982.19 . BCM GRCh38.p13 chr2 96604267 96604267 + G G C Missense_Mutation SNP ENST00000666923.1 exon18 c.C2210G p.P737R exonic ENSG00000114982.19 . nonsynonymous SNV ENSG00000114982.19:ENST00000666923.1:exon18:c.C2210G:p.P737R 2q11.2 C3N-01220 . . . . . . . . rs954265164 5.18 D T P B D D . T N 0.228 T T T 0.081 . 0.123 0.412 T . T T D T 3.139 23.700 0.996 D N 0.145 3.067 0.288 3.650 1.000 0.719 0.725 0.780 0.734 . 5.940 5.070 6.257 1.176 0.676 1.000 0.990 0.944 204 . . . . KANSL3 102 0 132 32 0.195121951219512 TRUE NA +ENSG00000136731.13 . BCM GRCh38.p13 chr2 128113161 128113161 + C C G Missense_Mutation SNP ENST00000259253.11 exon6 c.C599G p.S200C exonic ENSG00000136731.13 . nonsynonymous SNV ENSG00000136731.13:ENST00000259253.11:exon6:c.C599G:p.S200C 2q14.3 C3N-01220 . . . . . . . . . 8.20 D D P B D D L T N 0.577 T T T 0.292 0.567 0.723 0.253 T T T T D D 3.207 23.900 0.992 D D 0.520 5.195 0.598 6.204 1.000 0.732 0.744 0.744 0.714 . 5.580 5.580 6.908 1.026 0.549 1.000 0.999 0.998 344 . . . . UGGT1 172 0 86 5 0.0549450549450549 TRUE NA +ENSG00000079156.17 . BCM GRCh38.p13 chr2 178382436 178382436 + C C G Missense_Mutation SNP ENST00000190611.9 exon16 c.C1550G p.S517C exonic ENSG00000079156.17 . nonsynonymous SNV ENSG00000079156.17:ENST00000190611.9:exon16:c.C1550G:p.S517C 2q31.2 C3N-01220 . . . . . . . . . 12.20 D D D D D D M T D 0.826 T T T 0.296 0.276 0.117 0.979 T T T T D D 4.010 27.000 0.994 D D 0.887 10.708 0.886 13.172 1.000 0.615 0.547 0.659 0.655 . 5.950 5.950 7.905 1.026 0.599 1.000 1.000 0.999 296 . . . . OSBPL6 67 0 34 8 0.19047619047619 TRUE TRUE +ENSG00000163482.12 . BCM GRCh38.p13 chr2 218676059 218676059 + G G A Missense_Mutation SNP ENST00000295709.8 exon6 c.G465A p.M155I exonic ENSG00000163482.12 . nonsynonymous SNV ENSG00000163482.12:ENST00000295709.8:exon6:c.G465A:p.M155I 2q35 C3N-01220 . . . . . . . . . 7.20 D T B B D D N T N 0.417 T T T 0.120 0.561 0.754 0.259 T T T T D D 2.997 23.400 0.995 D D 0.040 2.656 0.259 3.485 1.000 0.706 0.634 0.710 0.714 . 5.650 5.650 4.130 1.176 0.676 1.000 0.998 0.979 818 Protein_kinase_domain . . . STK36 218 0 175 16 0.0837696335078534 TRUE TRUE +ENSG00000154783.12 . BCM GRCh38.p13 chr3 14820849 14820849 + G G A Missense_Mutation SNP ENST00000285046.10 exon1 c.G1778A p.G593E exonic ENSG00000154783.12 . nonsynonymous SNV ENSG00000154783.12:ENST00000285046.10:exon1:c.G1778A:p.G593E 3p25.1 C3N-01220 . . . . . . . . . 14.20 D D D P N D M T N 0.665 D D D 0.483 0.281 0.887 0.761 T T D D D D 3.688 25.400 0.996 D D 0.454 4.695 0.372 4.168 1.000 0.707 0.590 0.805 0.714 . 5.290 5.290 5.053 1.121 0.676 1.000 0.504 0.488 923 . . . ID=COSV53240622;OCCURENCE=1(NS),1(skin) FGD5 137 1 119 23 0.161971830985915 TRUE TRUE +ENSG00000163513.19 . BCM GRCh38.p13 chr3 30688476 30688476 + C C T Nonsense_Mutation SNP ENST00000295754.10 exon6 c.C1489T p.R497X exonic ENSG00000163513.19 . stopgain ENSG00000163513.19:ENST00000295754.10:exon6:c.C1489T:p.R497X 3p24.1 C3N-01220 . . . . . . . . rs863223852 5.6 . . . . D D . . . 0.913 . . . . . . . . . D D . . 8.238 41 0.998 D N 0.825 9.284 0.703 7.810 1.000 0.722 0.588 0.659 0.735 . 5.380 5.380 3.144 1.026 0.547 0.993 0.951 0.960 921 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV55443474;OCCURENCE=1(penis),1(cervix),4(large_intestine),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(lung) TGFBR2 513 0 356 23 0.0606860158311346 TRUE TRUE +ENSG00000172053.18 . BCM GRCh38.p13 chr3 49098923 49098923 + C C T Missense_Mutation SNP ENST00000306125.12 exon19 c.G1825A p.A609T exonic ENSG00000172053.18 . nonsynonymous SNV ENSG00000172053.18:ENST00000306125.12:exon19:c.G1825A:p.A609T 3p21.31 C3N-01220 1.648e-05 0 0 0 0 2.997e-05 0 0 rs62621222 1.20 T T B B N N N T N 0.175 T T T 0.074 0.565 0.374 0.302 T T T T T T 1.864 18.210 0.980 D N -0.518 1.142 -0.260 1.648 1.000 0.719 0.698 0.725 0.734 . 5.760 3.800 0.881 0.966 0.530 1.000 0.906 0.965 0 Glutamyl/glutaminyl-tRNA_synthetase,_class_Ib,_anti-codon_binding_domain . . . QARS1 171 1 105 22 0.173228346456693 TRUE NA +ENSG00000177646.19 . BCM GRCh38.p13 chr3 128884729 128884729 + A A C Missense_Mutation SNP ENST00000308982.12 exon2 c.A227C p.K76T exonic ENSG00000177646.19 . nonsynonymous SNV ENSG00000177646.19:ENST00000308982.12:exon2:c.A227C:p.K76T 3q21.3 C3N-01220 . . . . . . . . . 16.20 D D D P D D L D D 0.559 D D D 0.760 0.486 0.996 0.608 T D D D D D 3.601 25.000 0.968 D N 0.383 4.243 0.360 4.088 1.000 0.732 0.744 0.744 0.711 . 5.410 4.250 4.050 1.251 0.756 1.000 0.982 0.969 595 Acyl-CoA_dehydrogenase/oxidase,_N-terminal . . . ACAD9 303 0 160 11 0.064327485380117 TRUE TRUE +ENSG00000196455.8 . BCM GRCh38.p13 chr3 130728552 130728552 + G G C Missense_Mutation SNP ENST00000356763.8 exon6 c.C1718G p.A573G exonic ENSG00000196455.8 . nonsynonymous SNV ENSG00000196455.8:ENST00000356763.8:exon6:c.C1718G:p.A573G 3q22.1 C3N-01220 . . . . . . . . . 12.20 T T P P D D M T D 0.560 T T D 0.321 0.450 0.709 1.971 D T D D D D 3.434 24.500 0.995 D D 0.674 6.765 0.698 7.710 1.000 0.706 0.634 0.710 0.613 . 5.570 5.570 9.475 1.176 0.676 1.000 0.993 0.782 401 . . . . PIK3R4 164 1 71 8 0.10126582278481 TRUE TRUE +ENSG00000163872.16 . BCM GRCh38.p13 chr3 183804158 183804158 + G G A Missense_Mutation SNP ENST00000305135.10 exon27 c.G3754A p.D1252N exonic ENSG00000163872.16 . nonsynonymous SNV ENSG00000163872.16:ENST00000305135.10:exon27:c.G3754A:p.D1252N 3q27.1 C3N-01220 . . . . . . . . . 8.20 T D D P D D L T N 0.843 T T T 0.168 0.142 0.043 0.515 T T T T D D 3.887 26.300 0.998 D D 0.682 6.880 0.655 6.992 1.000 0.707 0.725 0.702 0.714 . 5.760 5.760 9.464 1.176 0.676 1.000 0.988 0.055 662 . . . . YEATS2 277 0 346 58 0.143564356435644 TRUE TRUE +ENSG00000114770.17 . BCM GRCh38.p13 chr3 183953116 183953116 + C C A Missense_Mutation SNP ENST00000334444.11 exon18 c.G2637T p.W879C exonic ENSG00000114770.17 . nonsynonymous SNV ENSG00000114770.17:ENST00000334444.11:exon18:c.G2637T:p.W879C 3q27.1 C3N-01220 . . . . . . . . . 18.20 D D D D N D H D D 0.952 D D D 0.760 0.660 0.656 1.814 T D D D D D 4.188 28.500 0.992 D D 0.924 11.699 0.812 10.492 1.000 0.732 0.634 0.744 0.728 . 5.620 4.740 7.460 1.026 0.599 1.000 0.981 0.984 328 ABC_transporter_type_1,_transmembrane_domain . . . ABCC5 99 0 75 17 0.184782608695652 TRUE TRUE +ENSG00000145113.22 . BCM GRCh38.p13 chr3 195782953 195782953 + C C A Missense_Mutation SNP ENST00000463781.8 exon2 c.G8627T p.G2876V exonic ENSG00000145113.22 . nonsynonymous SNV ENSG00000145113.22:ENST00000463781.8:exon2:c.G8627T:p.G2876V 3q29 C3N-01220 . . . . . . . . . 3.15 D D . . . N . T N 0.142 T T T 0.025 0.200 0.158 . T . T T T D 1.844 18.060 0.795 N N -0.729 0.764 -1.019 0.465 0.000 0.554 0.547 0.602 0.613 . . . -0.668 0.179 0.190 0.000 0.014 0.008 601 . . . . MUC4 978 0 1049 60 0.0541027953110911 NA TRUE +ENSG00000163312.11 . BCM GRCh38.p13 chr4 83407521 83407521 + C C A Missense_Mutation SNP ENST00000295488.8 exon18 c.G3238T p.V1080L exonic ENSG00000163312.11 . nonsynonymous SNV ENSG00000163312.11:ENST00000295488.8:exon18:c.G3238T:p.V1080L 4q21.23 C3N-01220 . . . . . . . . . 7.20 T T B B D D M T N 0.442 T T D 0.136 0.352 0.771 0.165 T T T T D D 2.114 20.200 0.940 D N -0.091 2.202 -0.020 2.293 0.807 0.693 0.659 0.602 0.668 . 5.030 4.170 2.995 0.104 0.547 1.000 0.007 0.043 823 . . . . HELQ 252 0 94 18 0.160714285714286 TRUE TRUE +ENSG00000145362.20 . BCM GRCh38.p13 chr4 113369528 113369528 + G G A Missense_Mutation SNP ENST00000357077.9 exon43 c.G11333A p.G3778E exonic ENSG00000145362.20 . nonsynonymous SNV ENSG00000145362.20:ENST00000357077.9:exon43:c.G11333A:p.G3778E 4q26 C3N-01220 . . . . . . . . . 13.20 D T P B N D M D D 0.425 D D D 0.370 0.340 0.790 0.389 T T D D D D 3.509 24.700 0.992 D N 0.279 3.674 0.330 3.898 0.999 0.707 0.588 0.725 0.613 . 5.660 5.660 3.982 1.176 0.676 1.000 0.315 0.562 605 . . . ID=COSV52178677;OCCURENCE=1(endometrium) ANK2 345 0 233 44 0.15884476534296 TRUE TRUE +ENSG00000145375.8 . BCM GRCh38.p13 chr4 123028315 123028315 + T T A Missense_Mutation SNP ENST00000274008.5 exon11 c.T1999A p.Y667N exonic ENSG00000145375.8 . nonsynonymous SNV ENSG00000145375.8:ENST00000274008.5:exon11:c.T1999A:p.Y667N 4q28.1 C3N-01220 . . . . . . . . . 18.19 D D D D D D . D D 0.894 D D D 0.934 0.781 0.984 0.822 T D D D D D 4.082 27.600 0.992 D D 0.925 11.719 0.857 12.017 1.000 0.651 0.588 0.659 0.684 . 5.790 5.790 7.539 1.138 0.609 1.000 0.997 0.973 357 ATPase,_AAA-type,_core;AAA+_ATPase_domain . . . SPATA5 358 1 208 24 0.103448275862069 TRUE TRUE +ENSG00000145675.15 . BCM GRCh38.p13 chr5 68295293 68295295 + CAG CAG - In_Frame_Del DEL ENST00000521381.6 exon13 c.1714_1716del p.Q572del exonic ENSG00000145675.15 . nonframeshift deletion ENSG00000145675.15:ENST00000521381.6:exon13:c.1714_1716del:p.Q572del 5q13.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3R1 177 0 52 10 0.161290322580645 TRUE TRUE +ENSG00000189127.8 . BCM GRCh38.p13 chr5 80558732 80558732 + G G A Nonsense_Mutation SNP ENST00000338682.8 exon5 c.C1288T p.R430X exonic ENSG00000189127.8 . stopgain ENSG00000189127.8:ENST00000338682.8:exon5:c.C1288T:p.R430X 5q14.1 C3N-01220 . . . . . . . . . 5.6 . . . . D D . . . 0.179 . . . . . . . . . D D . . 7.533 38 0.996 D N 0.743 7.770 0.603 6.266 0.610 0.615 0.574 0.659 0.663 . 6.040 6.040 2.882 1.172 0.672 1.000 0.962 0.584 677 . . . ID=COSV58613404;OCCURENCE=1(large_intestine),1(pancreas),2(autonomic_ganglia) ANKRD34B 226 0 80 11 0.120879120879121 TRUE TRUE +ENSG00000217128.12 . BCM GRCh38.p13 chr5 131672106 131672106 + G G A Missense_Mutation SNP ENST00000510461.6 exon14 c.C2338T p.H780Y exonic ENSG00000217128.12 . nonsynonymous SNV ENSG00000217128.12:ENST00000510461.6:exon14:c.C2338T:p.H780Y 5q31.1 C3N-01220 8.237e-06 0 0 0.0001 0 0 0 0 rs756786251 3.18 T T P B . D L T N 0.322 T T T 0.085 0.217 0.082 0.303 . T T T T T 1.981 19.120 0.982 D D 0.193 3.272 0.280 3.605 1.000 0.707 0.658 0.696 0.714 . 5.880 5.010 4.427 1.176 0.618 1.000 0.992 0.956 375 Tripartite_DENN_domain,_FNIP1/2-type . . . FNIP1 319 0 164 14 0.0786516853932584 TRUE NA +ENSG00000072364.13 . BCM GRCh38.p13 chr5 132932206 132932206 + T T C Missense_Mutation SNP ENST00000265343.10 exon4 c.A935G p.D312G exonic ENSG00000072364.13 . nonsynonymous SNV ENSG00000072364.13:ENST00000265343.10:exon4:c.A935G:p.D312G 5q31.1 C3N-01220 8.583e-06 0 8.956e-05 0 0 0 0 0 rs751474496 14.20 D D P P D D M T D 0.557 T T D 0.465 0.498 0.580 0.861 T D D D D D 4.357 30 0.998 D D 0.482 4.896 0.550 5.650 1.000 0.745 0.744 0.744 0.762 . 5.700 5.700 7.465 1.138 0.609 1.000 0.999 0.998 872 . . . . AFF4 146 0 61 8 0.115942028985507 TRUE NA +ENSG00000072571.20 . BCM GRCh38.p13 chr5 163471233 163471233 + T T A Missense_Mutation SNP ENST00000358715.3 exon6 c.T508A p.L170M exonic ENSG00000072571.20 . nonsynonymous SNV ENSG00000072571.20:ENST00000358715.3:exon6:c.T508A:p.L170M 5q34 C3N-01220 . . . . . . . . . 9.20 D D D D D D M T N 0.497 T T T 0.116 0.299 0.558 0.363 T T T T D T 2.295 21.500 0.995 D N 0.051 2.698 -0.049 2.198 0.038 0.707 0.725 0.725 0.714 . 5.770 0.523 -0.133 0.192 -0.142 0.723 0.860 0.986 934 Hyaluronan_mediated_motility_receptor,_N-terminal . . . HMMR 113 0 75 8 0.0963855421686747 TRUE TRUE +ENSG00000188037.12 . BCM GRCh38.p13 chr7 143351639 143351639 + C C T Missense_Mutation SNP ENST00000343257.7 exon23 c.C2641T p.R881C exonic ENSG00000188037.12 . nonsynonymous SNV ENSG00000188037.12:ENST00000343257.7:exon23:c.C2641T:p.R881C 7q34 C3N-01220 . . . . . . . . . 18.20 D D D D D D M D D 0.707 D D D 0.718 0.355 0.946 0.815 T D T D D D 4.365 31 0.999 D D 0.594 5.860 0.524 5.386 1.000 0.660 0.590 0.696 0.542 . 4.520 3.610 6.938 1.026 0.599 1.000 1.000 0.996 . . . . ID=COSV58368059;OCCURENCE=1(skin) CLCN1 259 0 307 44 0.125356125356125 TRUE TRUE +ENSG00000155970.12 . BCM GRCh38.p13 chr8 17116579 17116579 + C C A Missense_Mutation SNP ENST00000318063.10 exon13 c.C1503A p.D501E exonic ENSG00000155970.12 . nonsynonymous SNV ENSG00000155970.12:ENST00000318063.10:exon13:c.C1503A:p.D501E 8p22 C3N-01220 . . . . . . . . . 12.20 D D D P D D L T D 0.770 T T D 0.403 0.387 0.821 0.238 D T T T D D 3.452 24.600 0.997 D D 0.280 3.678 0.345 3.988 0.099 0.651 0.588 0.618 0.684 . 4.710 4.710 3.723 1.026 0.549 1.000 1.000 0.998 572 EF-hand_domain . . . MICU3 53 0 23 4 0.148148148148148 TRUE TRUE +ENSG00000122707.12 . BCM GRCh38.p13 chr9 36060125 36060125 + A A C Missense_Mutation SNP ENST00000377966.4 exon4 c.A241C p.I81L exonic ENSG00000122707.12 . nonsynonymous SNV ENSG00000122707.12:ENST00000377966.4:exon4:c.A241C:p.I81L 9p13.3 C3N-01220 . . . . . . . . . 3.20 T T B B D N N T N 0.476 T T T 0.084 0.434 0.512 0.226 T T T T D T 2.108 20.200 0.951 D N -0.176 1.946 0.054 2.553 1.000 0.732 0.588 0.725 0.728 . 5.780 4.490 4.522 1.308 0.691 1.000 1.000 0.998 462 . . . . RECK 113 0 56 11 0.164179104477612 TRUE TRUE +ENSG00000119139.20 . BCM GRCh38.p13 chr9 69230192 69230192 + C C T Missense_Mutation SNP ENST00000377245.9 exon11 c.C1631T p.A544V exonic ENSG00000119139.20;ENSG00000285130.2 . nonsynonymous SNV ENSG00000119139.20:ENST00000377245.9:exon11:c.C1631T:p.A544V,ENSG00000285130.2:ENST00000642889.1:exon13:c.C2018T:p.A673V 9q21.11 C3N-01220 2.471e-05 9.612e-05 0 0 0 0 0 0.0001 rs142684074 17.20 D D D D D D M T D 0.965 D D D 0.742 . 0.765 0.756 T T D D D D 3.764 25.700 0.999 D D 0.923 11.669 0.828 10.994 1.000 0.707 0.725 0.725 0.714 . 5.860 5.860 7.905 1.026 0.599 1.000 0.513 0.851 988 PDZ_domain . . ID=COSV55267080;OCCURENCE=1(pancreas) TJP2 339 0 325 35 0.0972222222222222 TRUE TRUE +ENSG00000070214.16 . BCM GRCh38.p13 chr9 105358399 105358399 + G G T Missense_Mutation SNP ENST00000374720.8 exon7 c.G726T p.W242C exonic ENSG00000070214.16 . nonsynonymous SNV ENSG00000070214.16:ENST00000374720.8:exon7:c.G726T:p.W242C 9q31.1 C3N-01220 . . . . . . . . . 15.20 D D D P D D M T D 0.855 T T D 0.617 0.584 0.371 1.213 D T D D D D 5.037 33 0.993 D D 0.745 7.791 0.764 9.138 1.000 0.706 0.688 0.710 0.613 . 5.610 5.610 7.682 1.176 0.665 1.000 1.000 0.996 963 . . . . SLC44A1 150 0 68 7 0.0933333333333333 TRUE TRUE +ENSG00000198879.12 . BCM GRCh38.p13 chr10 7285946 7285946 + C C T Missense_Mutation SNP ENST00000397167.5 exon5 c.G445A p.E149K exonic ENSG00000198879.12 . nonsynonymous SNV ENSG00000198879.12:ENST00000397167.5:exon5:c.G445A:p.E149K 10p14 C3N-01220 . . . . . . . . . 8.20 D T P B D D L T D 0.755 T T T 0.147 0.470 0.068 1.541 T T T T D D 3.328 24.200 0.999 D D 0.304 3.798 0.417 4.484 1.000 0.722 0.699 0.659 0.564 . 5.480 5.480 6.578 1.026 0.599 1.000 1.000 0.999 924 . . . . SFMBT2 147 0 94 18 0.160714285714286 TRUE TRUE +ENSG00000165322.18 . BCM GRCh38.p13 chr10 31809118 31809118 + C C A Missense_Mutation SNP ENST00000344936.7 exon18 c.G2139T p.L713F exonic ENSG00000165322.18 . nonsynonymous SNV ENSG00000165322.18:ENST00000344936.7:exon18:c.G2139T:p.L713F 10p11.22 C3N-01220 . . . . . . . . . 10.20 D D D D D D L T D 0.498 T T T 0.275 0.489 0.539 0.587 T T T T D D 3.440 24.500 0.999 D N 0.396 4.318 0.405 4.396 1.000 0.737 0.710 0.733 0.636 . 5.960 4.110 0.570 1.026 0.599 0.997 1.000 0.997 500 Rho_GTPase-activating_protein_domain . . . ARHGAP12 100 0 44 8 0.153846153846154 TRUE TRUE +ENSG00000179532.13 . BCM GRCh38.p13 chr11 6533695 6533695 + T T A Missense_Mutation SNP ENST00000254579.11 exon14 c.T2520A p.N840K exonic ENSG00000179532.13 . nonsynonymous SNV ENSG00000179532.13:ENST00000254579.11:exon14:c.T2520A:p.N840K 11p15.4 C3N-01220 . . . . . . . . . 1.19 T D B B . N L T N 0.199 T T T 0.052 0.381 0.061 0.191 T T T T T T -0.952 0.010 0.857 N N -2.161 0.004 -2.275 0.003 1.000 0.706 0.654 0.710 0.684 . 6.030 -12.100 -2.671 -1.120 -0.713 0.000 0.062 0.200 457 . . . . DNHD1 91 0 83 15 0.153061224489796 TRUE TRUE +ENSG00000047617.15 . BCM GRCh38.p13 chr12 5578392 5578392 + G G A Missense_Mutation SNP ENST00000650848.1 exon23 c.C2375T p.P792L exonic ENSG00000047617.15 . nonsynonymous SNV ENSG00000047617.15:ENST00000650848.1:exon23:c.C2375T:p.P792L 12p13.31 C3N-01220 3.319e-05 0 0 0 0 6.003e-05 0 0 rs370114605 15.17 D D . . D D . T D 0.974 D D D 0.629 . 0.657 0.380 D T D D D D 3.864 26.200 0.998 D D 0.703 7.157 0.607 6.311 1.000 0.638 0.590 0.653 0.662 . 5.300 4.350 8.047 1.176 0.676 1.000 0.860 0.048 933 . . . ID=COSV59016168;OCCURENCE=2(thyroid) ANO2 89 0 98 12 0.109090909090909 TRUE TRUE +ENSG00000070018.9 . BCM GRCh38.p13 chr12 12147469 12147469 + G G - Frame_Shift_Del DEL ENST00000261349.9 exon15 c.3294delC p.F1098Lfs*4 exonic ENSG00000070018.9 . frameshift deletion ENSG00000070018.9:ENST00000261349.9:exon15:c.3294delC:p.F1098Lfs*4 12p13.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP6 294 0 135 19 0.123376623376623 TRUE TRUE +ENSG00000151491.14 . BCM GRCh38.p13 chr12 15669407 15669407 + A A G Missense_Mutation SNP ENST00000281172.10 exon6 c.T496C p.F166L exonic ENSG00000151491.14 . nonsynonymous SNV ENSG00000151491.14:ENST00000281172.10:exon6:c.T496C:p.F166L 12p12.3 C3N-01220 . . . . . . . . . 17.20 D D D D D D M T D 0.953 D D D 0.890 0.931 0.898 0.611 T T D D D D 3.994 26.900 0.999 D D 0.851 9.871 0.819 10.725 1.000 0.693 0.588 0.653 0.564 . 5.660 5.660 8.941 1.312 0.756 1.000 0.995 0.907 840 PTB/PI_domain;Tensin/EPS8_phosphotyrosine-binding_domain;Epidermal_growth_factor_receptor_kinase_substrate,_phosphotyrosine-binding_domain . . . EPS8 155 0 59 13 0.180555555555556 TRUE TRUE +ENSG00000151239.13 . BCM GRCh38.p13 chr12 43804560 43804560 + A A C Missense_Mutation SNP ENST00000395510.6 exon2 c.T38G p.V13G exonic ENSG00000151239.13 . nonsynonymous SNV ENSG00000151239.13:ENST00000395510.6:exon2:c.T38G:p.V13G 12q12 C3N-01220 . . . . . . . . . 14.20 D D D D N D M T D 0.684 T T D 0.478 0.793 0.712 1.313 T T D D D D 4.175 28.400 0.983 D D 0.680 6.847 0.643 6.803 1.000 0.609 0.435 0.659 0.605 . 5.600 4.440 8.313 1.312 0.691 1.000 1.000 0.994 609 Actin-depolymerising_factor_homology_domain . . . TWF1 135 0 48 8 0.142857142857143 TRUE TRUE +ENSG00000185271.9 . BCM GRCh38.p13 chr14 20429977 20429977 + C C A Missense_Mutation SNP ENST00000344581.4 exon2 c.G699T p.W233C exonic ENSG00000185271.9 . nonsynonymous SNV ENSG00000185271.9:ENST00000344581.4:exon2:c.G699T:p.W233C 14q11.2 C3N-01220 . . . . . . . . . 11.20 D D D D N D M T D 0.492 T T D 0.597 0.702 0.302 . T T T T D T 3.842 26.000 0.990 D D 0.560 5.537 0.487 5.044 1.000 0.554 0.547 0.602 0.632 . 4.690 3.790 4.380 0.952 0.599 1.000 0.995 0.921 946 . . . . KLHL33 169 0 144 33 0.186440677966102 TRUE NA +ENSG00000103316.11 . BCM GRCh38.p13 chr16 21277432 21277432 + G G A Missense_Mutation SNP ENST00000219599.8 exon4 c.C323T p.A108V exonic ENSG00000103316.11 . nonsynonymous SNV ENSG00000103316.11:ENST00000219599.8:exon4:c.C323T:p.A108V 16p12.2 C3N-01220 2.54e-05 0.0001 8.8e-05 0 0 1.541e-05 0 0 rs553362900 13.19 T D P B D D M D D 0.431 T T D 0.625 0.707 0.849 0.458 T D D D D . 3.114 23.700 0.999 D D 0.312 3.843 0.297 3.698 1.000 0.742 0.542 0.775 0.530 . 4.780 2.760 3.367 1.176 0.676 1.000 1.000 0.989 762 . . . ID=COSV99561970;OCCURENCE=1(lung) CRYM 268 1 346 30 0.0797872340425532 TRUE NA +ENSG00000149927.18 . BCM GRCh38.p13 chr16 30009525 30009525 + A A G Missense_Mutation SNP ENST00000350119.9 exon3 c.T295C p.Y99H exonic ENSG00000149927.18 . nonsynonymous SNV ENSG00000149927.18:ENST00000350119.9:exon3:c.T295C:p.Y99H 16p11.2 C3N-01220 . . . . . . . . . 16.20 D D D D D D M T D 0.712 T T D 0.494 0.878 0.642 1.281 T D D D D D 4.035 27.200 0.998 D D 0.713 7.305 0.689 7.555 1.000 0.610 0.627 0.494 0.639 . 5.370 5.370 4.459 1.312 0.756 1.000 0.998 0.995 76 . . . . DOC2A 468 0 576 93 0.139013452914798 TRUE TRUE +ENSG00000103044.11 . BCM GRCh38.p13 chr16 69109837 69109837 + T T G Missense_Mutation SNP ENST00000569188.6 exon2 c.T442G p.F148V exonic ENSG00000103044.11 . nonsynonymous SNV ENSG00000103044.11:ENST00000569188.6:exon2:c.T442G:p.F148V 16q22.1 C3N-01220 . . . . . . . . . 6.20 T T B B D D N D N 0.300 T T D 0.205 0.552 0.346 1.101 T T T T D T 2.041 19.560 0.949 D N -0.395 1.395 -0.162 1.879 1.000 0.632 0.547 0.698 0.636 . 5.600 5.600 3.198 1.061 0.656 1.000 0.996 0.717 237 . . . . HAS3 439 0 559 101 0.153030303030303 TRUE TRUE +ENSG00000006788.14 . BCM GRCh38.p13 chr17 10332114 10332114 + C C A Missense_Mutation SNP ENST00000252172.9 exon20 c.G2283T p.R761S exonic ENSG00000006788.14 . nonsynonymous SNV ENSG00000006788.14:ENST00000252172.9:exon20:c.G2283T:p.R761S 17p13.1 C3N-01220 . . . . . . . . . 10.19 D D P P . D M D N 0.605 D D T 0.562 0.671 0.664 0.163 T D T T D D 2.498 22.400 0.994 N N -0.462 1.253 -0.671 0.941 0.000 0.487 0.590 0.547 0.564 . 4.350 -2.680 -0.460 -0.213 -0.176 0.002 0.767 0.899 87 Myosin_head,_motor_domain . . . MYH13 201 0 174 40 0.186915887850467 TRUE TRUE +ENSG00000108443.14 . BCM GRCh38.p13 chr17 59946688 59946688 + C C T Missense_Mutation SNP ENST00000225577.9 exon15 c.C1478T p.S493L exonic ENSG00000108443.14 . nonsynonymous SNV ENSG00000108443.14:ENST00000225577.9:exon15:c.C1478T:p.S493L 17q23.1 C3N-01220 . . . . . . . . . 9.20 D D B B D D L T N 0.617 T T D 0.194 0.289 0.772 0.943 T T T T D D 2.777 23.000 0.987 D D -0.014 2.462 0.122 2.826 0.990 0.707 0.725 0.725 0.714 . 5.230 4.270 7.518 1.026 0.599 1.000 1.000 0.997 276 . . . . RPS6KB1 327 0 274 31 0.101639344262295 NA TRUE +ENSG00000092929.11 . BCM GRCh38.p13 chr17 75834635 75834635 + C C T Missense_Mutation SNP ENST00000207549.8 exon22 c.G2074A p.G692S exonic ENSG00000092929.11 . nonsynonymous SNV ENSG00000092929.11:ENST00000207549.8:exon22:c.G2074A:p.G692S 17q25.1 C3N-01220 . . . . . . . . . 2.20 T T B B N N N T N 0.322 T T D 0.142 0.340 0.673 0.105 T T T T T T 2.020 19.400 0.990 D N -0.544 1.091 -0.361 1.444 0.998 0.672 0.702 0.578 0.568 . 4.630 2.620 0.876 0.136 0.596 0.996 0.985 0.917 940 . . . . UNC13D 682 0 916 108 0.10546875 TRUE TRUE +ENSG00000153885.14 . BCM GRCh38.p13 chr19 33812922 33812922 + C C T Nonsense_Mutation SNP ENST00000430256.3 exon6 c.C826T p.R276X exonic ENSG00000153885.14 . stopgain ENSG00000153885.14:ENST00000430256.3:exon6:c.C826T:p.R276X 19q13.11 C3N-01220 . . . . . . . . rs757471584 4.5 . . . . . D . . . 0.762 . . . . . . . . . D D . . 7.724 39 0.998 D N 0.705 7.193 0.554 5.695 0.125 0.650 0.547 0.607 0.636 . 5.720 3.440 3.928 1.026 0.599 1.000 0.972 0.586 823 . . . ID=COSV52289992;OCCURENCE=1(large_intestine) KCTD15 75 0 107 13 0.108333333333333 TRUE TRUE +ENSG00000063176.16 . BCM GRCh38.p13 chr19 48626032 48626032 + C C T Nonsense_Mutation SNP ENST00000245222.9 exon3 c.C181T p.R61X exonic ENSG00000063176.16 . stopgain ENSG00000063176.16:ENST00000245222.9:exon3:c.C181T:p.R61X 19q13.33 C3N-01220 8.536e-06 0 0 0.0001 0 0 0 0 rs758872660 3.6 . . . . N A . . . 0.853 . . . . . . . . . D D . . 6.405 36 0.997 N N 0.214 3.367 -0.077 2.115 1.000 0.672 0.702 0.644 0.636 . 4.160 1.960 0.537 0.074 0.599 0.012 0.944 0.977 711 . . . ID=COSV99709238;OCCURENCE=1(soft_tissue) SPHK2 257 0 339 20 0.0557103064066852 TRUE NA +ENSG00000178201.4 . BCM GRCh38.p13 chr19 57455627 57455627 + G G A Missense_Mutation SNP ENST00000321039.4 exon1 c.C860T p.S287L exonic ENSG00000178201.4 . nonsynonymous SNV ENSG00000178201.4:ENST00000321039.4:exon1:c.C860T:p.S287L 19q13.43 C3N-01220 . . . . . . . . . 2.19 D T B B . N L T D 0.178 T T T 0.049 0.502 0.228 0.097 T T T T T T 1.214 13.750 0.992 N N -0.610 0.969 -0.724 0.865 0.000 0.615 0.588 0.659 0.564 . 4.070 1.920 0.072 -0.078 -0.121 0.001 0.000 0.000 981 GPCR,_rhodopsin-like,_7TM . . . VN1R1 400 1 260 40 0.133333333333333 TRUE TRUE +ENSG00000026559.14 . BCM GRCh38.p13 chr20 51009650 51009650 + G G T Missense_Mutation SNP ENST00000371571.5 exon2 c.C689A p.A230D exonic ENSG00000026559.14 . nonsynonymous SNV ENSG00000026559.14:ENST00000371571.5:exon2:c.C689A:p.A230D 20q13.13 C3N-01220 . . . . . . . . . 19.20 D D D D D D H D D 0.938 D D D 0.882 0.586 0.994 3.021 T D D D D D 4.300 29.600 0.998 D D 0.988 13.554 0.940 15.596 1.000 0.696 0.610 0.723 0.542 . 5.650 5.650 10.003 1.097 0.586 1.000 1.000 0.999 851 Ion_transport_domain . . . KCNG1 180 0 240 31 0.114391143911439 TRUE TRUE +ENSG00000157540.21 . BCM GRCh38.p13 chr21 37480794 37480794 + G G A Missense_Mutation SNP ENST00000339659.9 exon4 c.G484A p.D162N exonic ENSG00000157540.21 . nonsynonymous SNV ENSG00000157540.21:ENST00000339659.9:exon4:c.G484A:p.D162N 21q22.13 C3N-01220 . . . . . . . . . 8.20 T T P B D D L T D 0.763 T T T 0.278 0.516 0.429 1.279 D T T T D D 2.990 23.400 0.999 D D 0.316 3.864 0.477 4.954 1.000 0.707 0.725 0.725 0.714 . 5.240 5.240 9.992 1.176 0.671 1.000 1.000 0.998 840 Protein_kinase_domain . . . DYRK1A 84 0 31 3 0.0882352941176471 TRUE NA +ENSG00000176774.6 . BCM GRCh38.p13 chrX 26139173 26139173 + C C T Missense_Mutation SNP ENST00000325250.2 exon2 c.C188T p.A63V exonic ENSG00000176774.6 . nonsynonymous SNV ENSG00000176774.6:ENST00000325250.2:exon2:c.C188T:p.A63V Xp21.3 C3N-01220 2.324e-05 0.0001 0 0 0 0 0 0.0001 rs142492796 0.19 T T B B N N L T N 0.015 T T T 0.065 . 0.591 0.043 T T T T T T -1.270 0.002 0.585 N . . . . . 0.994 . . . . . 4.580 -9.150 -2.654 -1.361 -1.800 0.000 0.000 0.000 719 Melanoma_associated_antigen,_N-terminal . . . MAGEB18 105 0 48 26 0.351351351351351 TRUE TRUE +ENSG00000165164.14 . BCM GRCh38.p13 chrX 35951170 35951170 + C C G Missense_Mutation SNP ENST00000378653.8 exon5 c.C696G p.I232M exonic ENSG00000165164.14 . nonsynonymous SNV ENSG00000165164.14:ENST00000378653.8:exon5:c.C696G:p.I232M Xp21.1 C3N-01220 . . . . . . . . . 7.17 D D D D D N . T N 0.520 T T T 0.210 0.519 0.485 0.514 . T T T D T 1.777 17.560 0.996 D . . . . . 0.000 . . . . . 5.750 0.025 -0.094 0.877 0.599 0.937 0.649 0.133 603 . . . . CFAP47 70 0 35 3 0.0789473684210526 TRUE NA +ENSG00000204271.13 . BCM GRCh38.p13 chrX 56994688 56994688 + T T C Missense_Mutation SNP ENST00000374919.6 exon2 c.A260G p.Y87C exonic ENSG00000204271.13 . nonsynonymous SNV ENSG00000204271.13:ENST00000374919.6:exon2:c.A260G:p.Y87C Xp11.21 C3N-01220 . . . . . . . . . 12.18 D T D D U D M T D 0.863 T T D 0.591 0.477 0.802 1.546 D T D D D . 3.837 26.000 0.997 D . . . . . 1.000 . . . . . 2.450 2.450 6.403 0.693 0.665 1.000 1.000 0.993 264 . . . . SPIN3 78 0 39 16 0.290909090909091 TRUE TRUE +ENSG00000102125.16 . BCM GRCh38.p13 chrX 154413562 154413562 + G G T Missense_Mutation SNP ENST00000601016.6 exon4 c.G365T p.C122F exonic ENSG00000102125.16 . nonsynonymous SNV ENSG00000102125.16:ENST00000601016.6:exon4:c.G365T:p.C122F Xq28 C3N-01220 . . . . . . . . . 16.19 D T D D D D L D D 0.810 D D D 0.649 0.434 0.999 . T D D D D D 4.102 27.800 0.960 D . . . . . 1.000 . . . . . 5.800 5.800 6.821 1.156 0.653 1.000 1.000 0.998 85 Phospholipid/glycerol_acyltransferase . . . TAZ 76 0 59 35 0.372340425531915 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47113875 47113875 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000181555.20 ENST00000409792.3:exon5:c.4715+1G>T . . 3p21.31 C3N-01220 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.616 34 0.993 D . 1.113 18.084 0.940 15.580 1.000 0.099 0.110 0.004 0.118 0.977 4.530 4.530 7.323 1.022 0.545 1.000 1.000 0.980 14 . . . ID=COSV57431126;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(kidney),1(lung) SETD2 100 0 34 11 0.244444444444444 TRUE TRUE +ENSG00000164181.14 . BCM GRCh38.p13 chr5 60767904 60767904 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000164181.14 ENST00000508821.6:exon5:c.256-1G>C . . 5q12.1 C3N-01220 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.023 33 0.996 D . 1.170 21.327 1.018 19.981 0.989 0.078 0.085 0.084 0.059 0.986 5.100 5.100 7.323 1.026 0.549 1.000 1.000 0.999 0 . . . . ELOVL7 131 0 80 14 0.148936170212766 TRUE TRUE +ENSG00000112320.12 . BCM GRCh38.p13 chr6 107503656 107503656 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000112320.12 ENST00000317357.10:exon2:c.97-1G>T . . 6q21 C3N-01220 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.472 36 0.995 D . 1.269 32.392 1.135 31.809 1.000 0.078 0.063 0.084 0.063 0.988 5.730 5.730 9.602 1.176 0.676 1.000 1.000 0.999 826 . . . . SOBP 367 0 137 27 0.164634146341463 TRUE TRUE +ENSG00000138600.10 . BCM GRCh38.p13 chr15 50748203 50748203 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000138600.10 ENST00000261854.10:exon4:c.361-1G>T . . 15q21.2 C3N-01220 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.614 34 0.995 D . 1.174 21.610 1.045 21.940 1.000 0.164 0.157 0.063 0.110 0.988 6.070 6.070 3.827 1.013 0.597 1.000 0.997 0.976 323 . . . . SPPL2A 64 2 26 6 0.1875 TRUE NA +ENSG00000121904.17 . BCM GRCh38.p13 chr1 33625241 33625241 + G G T Silent SNP ENST00000373388.6 exon34 c.C5190A p.T1730T exonic ENSG00000121904.17 . synonymous SNV ENSG00000121904.17:ENST00000373388.6:exon34:c.C5190A:p.T1730T 1p35.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSMD2 272 0 343 51 0.129441624365482 TRUE TRUE +ENSG00000060718.22 . BCM GRCh38.p13 chr1 103014571 103014571 + G G T Silent SNP ENST00000370096.9 exon13 c.C1512A p.S504S exonic ENSG00000060718.22 . synonymous SNV ENSG00000060718.22:ENST00000370096.9:exon13:c.C1512A:p.S504S 1p21.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL11A1 458 1 191 48 0.200836820083682 TRUE TRUE +ENSG00000084731.15 . BCM GRCh38.p13 chr2 25980715 25980715 + C C A Silent SNP ENST00000264712.8 exon1 c.G1203T p.G401G exonic ENSG00000084731.15 . synonymous SNV ENSG00000084731.15:ENST00000264712.8:exon1:c.G1203T:p.G401G 2p23.3 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF3C 196 1 199 35 0.14957264957265 TRUE TRUE +ENSG00000081479.15 . BCM GRCh38.p13 chr2 169185550 169185550 + G G A Silent SNP ENST00000649046.1 exon50 c.C9798T p.N3266N exonic ENSG00000081479.15 . synonymous SNV ENSG00000081479.15:ENST00000649046.1:exon50:c.C9798T:p.N3266N 2q31.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP2 234 0 102 15 0.128205128205128 TRUE NA +ENSG00000164049.14 . BCM GRCh38.p13 chr3 48394656 48394656 + G G A Silent SNP ENST00000296438.9 exon11 c.G1392A p.T464T exonic ENSG00000164049.14 . synonymous SNV ENSG00000164049.14:ENST00000296438.9:exon11:c.G1392A:p.T464T 3p21.31 C3N-01220 4.13e-05 0 0 0.0003 0 1.502e-05 0 6.111e-05 rs749755227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56483295;OCCURENCE=1(large_intestine),1(pancreas) FBXW12 121 0 24 13 0.351351351351351 NA TRUE +ENSG00000071127.17 . BCM GRCh38.p13 chr4 10078909 10078909 + C C T Silent SNP ENST00000499869.7 exon12 c.G1377A p.T459T exonic ENSG00000071127.17 . synonymous SNV ENSG00000071127.17:ENST00000499869.7:exon12:c.G1377A:p.T459T 4p16.1 C3N-01220 1.682e-05 0 0 0 0 3.03e-05 0 0 rs754699425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101221170;OCCURENCE=1(stomach) WDR1 101 0 102 20 0.163934426229508 TRUE NA +ENSG00000120729.10 . BCM GRCh38.p13 chr5 137870858 137870858 + C C T Silent SNP ENST00000239926.9 exon2 c.C207T p.F69F exonic ENSG00000120729.10 . synonymous SNV ENSG00000120729.10:ENST00000239926.9:exon2:c.C207T:p.F69F 5q31.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYOT 211 0 191 31 0.13963963963964 TRUE TRUE +ENSG00000178209.15 . BCM GRCh38.p13 chr8 143920077 143920077 + G G A Silent SNP ENST00000322810.8 exon32 c.C10155T p.G3385G exonic ENSG00000178209.15 . synonymous SNV ENSG00000178209.15:ENST00000322810.8:exon32:c.C10155T:p.G3385G 8q24.3 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEC 565 0 636 95 0.129958960328317 TRUE TRUE +ENSG00000133661.16 . BCM GRCh38.p13 chr10 79946477 79946477 + G G A Silent SNP ENST00000372292.8 exon2 c.C183T p.G61G exonic ENSG00000133661.16 . synonymous SNV ENSG00000133661.16:ENST00000372292.8:exon2:c.C183T:p.G61G 10q22.3 C3N-01220 1.663e-05 0 0 0 0 3.023e-05 0 0 rs148973610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64852622;OCCURENCE=1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue) SFTPD 231 0 263 41 0.134868421052632 TRUE TRUE +ENSG00000198682.13 . BCM GRCh38.p13 chr10 87715767 87715767 + C C T Silent SNP ENST00000361175.8 exon7 c.C789T p.G263G exonic ENSG00000198682.13 . synonymous SNV ENSG00000198682.13:ENST00000361175.8:exon7:c.C789T:p.G263G 10q23.31 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAPSS2 481 0 379 75 0.165198237885463 TRUE TRUE +ENSG00000166478.10 . BCM GRCh38.p13 chr11 9516317 9516317 + G G A Silent SNP ENST00000396602.7 exon14 c.G1641A p.T547T exonic ENSG00000166478.10 . synonymous SNV ENSG00000166478.10:ENST00000396602.7:exon14:c.G1641A:p.T547T 11p15.4 C3N-01220 8.365e-06 0 0 0 0 0 0 6.133e-05 rs572827042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55182215;OCCURENCE=1(lung) ZNF143 172 0 187 36 0.161434977578475 TRUE TRUE +ENSG00000083782.8 . BCM GRCh38.p13 chr12 90978179 90978179 + T T C Silent SNP ENST00000261172.8 exon3 c.A249G p.E83E exonic ENSG00000083782.8 . synonymous SNV ENSG00000083782.8:ENST00000261172.8:exon3:c.A249G:p.E83E 12q21.33 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPYC 124 0 116 13 0.10077519379845 TRUE TRUE +ENSG00000197991.11 . BCM GRCh38.p13 chr13 61415099 61415099 + C C T Silent SNP ENST00000409204.4 exon1 c.G60A p.A20A exonic ENSG00000197991.11;ENSG00000280165.1 . synonymous SNV ENSG00000280165.1:ENST00000409204.4:exon1:c.G60A:p.A20A,ENSG00000197991.11:ENST00000409186.1:exon4:c.G60A:p.A20A 13q21.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL592490.1 70 0 107 15 0.122950819672131 TRUE TRUE +ENSG00000183092.16 . BCM GRCh38.p13 chr14 100539118 100539118 + G G A Silent SNP ENST00000443071.6 exon6 c.C633T p.D211D exonic ENSG00000183092.16 . synonymous SNV ENSG00000183092.16:ENST00000443071.6:exon6:c.C633T:p.D211D 14q32.2 C3N-01220 0.0002 0.0023 0 0 0 0 0 0.0001 rs145762986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BEGAIN 85 0 83 18 0.178217821782178 TRUE NA +ENSG00000188176.12 . BCM GRCh38.p13 chr17 4584896 4584896 + C C T Silent SNP ENST00000389313.9 exon1 c.C291T p.P97P exonic ENSG00000188176.12 . synonymous SNV ENSG00000188176.12:ENST00000389313.9:exon1:c.C291T:p.P97P 17p13.2 C3N-01220 . . . . . . . . rs1020958547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMTNL2 60 0 74 13 0.149425287356322 TRUE NA +ENSG00000109063.15 . BCM GRCh38.p13 chr17 10648647 10648647 + C C G Silent SNP ENST00000583535.6 exon8 c.G645C p.G215G exonic ENSG00000109063.15 . synonymous SNV ENSG00000109063.15:ENST00000583535.6:exon8:c.G645C:p.G215G 17p13.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH3 465 0 315 48 0.132231404958678 TRUE TRUE +ENSG00000141698.17 . BCM GRCh38.p13 chr17 41825580 41825580 + G G A Silent SNP ENST00000435506.7 exon9 c.C846T p.N282N exonic ENSG00000141698.17 . synonymous SNV ENSG00000141698.17:ENST00000435506.7:exon9:c.C846T:p.N282N 17q21.2 C3N-01220 0.0010 9.653e-05 0 0.0135 0 4.527e-05 0 0.0002 rs368489939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99505248;OCCURENCE=1(stomach) NT5C3B 187 0 200 17 0.0783410138248848 TRUE NA +ENSG00000198551.10 . BCM GRCh38.p13 chr19 11617640 11617640 + A A T Silent SNP ENST00000361113.10 exon4 c.A1137T p.R379R exonic ENSG00000198551.10 . synonymous SNV ENSG00000198551.10:ENST00000361113.10:exon4:c.A1137T:p.R379R 19p13.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF627 133 0 50 4 0.0740740740740741 TRUE TRUE +ENSG00000124459.12 . BCM GRCh38.p13 chr19 43914950 43914950 + T T C Silent SNP ENST00000269973.10 exon10 c.A486G p.K162K exonic ENSG00000124459.12 . synonymous SNV ENSG00000124459.12:ENST00000269973.10:exon10:c.A486G:p.K162K 19q13.31 C3N-01220 . . . . . . . . rs201455492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF45 57 0 28 3 0.0967741935483871 TRUE NA +ENSG00000125755.19 . BCM GRCh38.p13 chr19 45852377 45852377 + G G A Silent SNP ENST00000245934.12 exon5 c.C234T p.I78I exonic ENSG00000125755.19 . synonymous SNV ENSG00000125755.19:ENST00000245934.12:exon5:c.C234T:p.I78I 19q13.32 C3N-01220 7.452e-05 0.0006 0.0002 0 0 1.498e-05 0 0 rs188023108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55615073;OCCURENCE=1(large_intestine) SYMPK 401 0 255 50 0.163934426229508 TRUE TRUE +ENSG00000131042.14 . BCM GRCh38.p13 chr19 54280473 54280473 + C C G Silent SNP ENST00000391749.4 exon2 c.G24C p.L8L exonic ENSG00000131042.14 . synonymous SNV ENSG00000131042.14:ENST00000391749.4:exon2:c.G24C:p.L8L 19q13.42 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LILRB2 236 0 228 31 0.11969111969112 NA TRUE +ENSG00000101224.17 . BCM GRCh38.p13 chr20 3802316 3802316 + C C T Silent SNP ENST00000245960.9 exon11 c.C1134T p.H378H exonic ENSG00000101224.17 . synonymous SNV ENSG00000101224.17:ENST00000245960.9:exon11:c.C1134T:p.H378H 20p13 C3N-01220 3.309e-05 9.728e-05 0 0 0 4.507e-05 0 0 rs560679507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99848466;OCCURENCE=1(stomach) CDC25B 205 1 155 41 0.209183673469388 TRUE NA +ENSG00000026559.14 . BCM GRCh38.p13 chr20 51004245 51004245 + G G A Silent SNP ENST00000371571.5 exon3 c.C1336T p.L446L exonic ENSG00000026559.14 . synonymous SNV ENSG00000026559.14:ENST00000371571.5:exon3:c.C1336T:p.L446L 20q13.13 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNG1 180 0 175 35 0.166666666666667 TRUE TRUE +ENSG00000125531.7 . BCM GRCh38.p13 chr20 63556212 63556212 + C C T Silent SNP ENST00000370097.2 exon2 c.C549T p.H183H exonic ENSG00000125531.7 . synonymous SNV ENSG00000125531.7:ENST00000370097.2:exon2:c.C549T:p.H183H 20q13.33 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FNDC11 49 0 57 18 0.24 TRUE NA +ENSG00000100364.18 . BCM GRCh38.p13 chr22 45205805 45205805 + G G C Silent SNP ENST00000336156.9 exon3 c.C324G p.L108L exonic ENSG00000100364.18 . synonymous SNV ENSG00000100364.18:ENST00000336156.9:exon3:c.C324G:p.L108L 22q13.31 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA0930 154 0 205 35 0.145833333333333 TRUE TRUE +ENSG00000008735.14 . BCM GRCh38.p13 chr22 50604010 50604010 + C C T Silent SNP ENST00000329492.6 exon5 c.C711T p.S237S exonic ENSG00000008735.14 . synonymous SNV ENSG00000008735.14:ENST00000329492.6:exon5:c.C711T:p.S237S 22q13.33 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPK8IP2 123 0 129 25 0.162337662337662 TRUE NA +ENSG00000165349.12 . BCM GRCh38.p13 chrX 70929878 70929878 + C C A Silent SNP ENST00000374299.8 exon2 c.G120T p.L40L exonic ENSG00000165349.12 . synonymous SNV ENSG00000165349.12:ENST00000374299.8:exon2:c.G120T:p.L40L Xq13.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99979501;OCCURENCE=1(upper_aerodigestive_tract) SLC7A3 143 0 131 57 0.303191489361702 TRUE TRUE +ENSG00000047410.14 . BCM GRCh38.p13 chr1 186375131 186375131 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000047410.14 ENST00000367478.9:c.-103G>C . . 1q31.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TPR 145 0 187 22 0.105263157894737 TRUE TRUE +ENSG00000171094.18 . BCM GRCh38.p13 chr2 29220995 29220995 + - NA TGAATCT Intron INS NA NA NA NA intronic ENSG00000171094.18 . . . 2p23.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALK NA NA NA NA NA NA NA +ENSG00000171094.18 . BCM GRCh38.p13 chr2 29220996 29220996 + A A T Intron SNP NA NA NA NA intronic ENSG00000171094.18 . . . 2p23.2 C3N-01220 . . . . . . . . . 1.13 D . . . . N . T N . T T . 0.098 0.341 0.234 . . T T T T T 0.183 2.933 0.391 N N -0.945 0.466 -1.175 0.305 0.580 0.554 0.588 0.547 0.542 . 2.450 -2.700 -0.337 -0.313 -0.062 0.000 0.000 0.003 751 . . . . ALK 125 0 133 22 0.141935483870968 TRUE TRUE +ENSG00000144579.7 . BCM GRCh38.p13 chr2 218400895 218400895 + C C A Intron SNP NA NA NA NA intronic ENSG00000144579.7 . . . 2q35 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTDSP1 313 0 426 32 0.0698689956331878 TRUE TRUE +ENSG00000169379.16 . BCM GRCh38.p13 chr3 94054049 94054049 + T T G 3'UTR SNP NA NA NA NA UTR3 ENSG00000169379.16 ENST00000394222.8:c.*786T>G . . 3q11.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARL13B 63 0 32 7 0.179487179487179 TRUE NA +ENSG00000112167.10 . BCM GRCh38.p13 chr6 39109318 39109318 + A A C Intron SNP NA NA NA NA intronic ENSG00000112167.10 . . . 6p21.2 C3N-01220 . . . . . . . . . 4.13 D D . . . D . . N 0.345 T T T 0.049 0.812 0.030 . . . T T T D 0.604 7.549 0.873 N N -0.570 1.042 -0.761 0.812 0.102 0.651 0.588 0.602 0.684 . 3.210 0.728 0.115 1.001 0.756 0.000 0.073 0.080 848 . . . . SAYSD1 191 0 156 19 0.108571428571429 TRUE NA +ENSG00000213694.6 . BCM GRCh38.p13 chr9 88991887 88991887 + C C T Intron SNP NA NA NA NA intronic ENSG00000213694.6 . . . 9q22.1 C3N-01220 2.48e-05 0 0.0002 0 0 1.504e-05 0 0 rs774548704 0.10 . . . . . N . . . . T T T 0.079 0.467 0.061 . . . T T T T -0.360 0.233 0.968 N N -1.453 0.097 -1.579 0.081 1.000 0.447 0.563 0.504 0.250 . 2.630 -4.600 -2.553 -2.057 -1.013 0.000 0.000 0.000 643 . . . . S1PR3 648 0 698 131 0.158021712907117 TRUE NA +ENSG00000120549.18 . BCM GRCh38.p13 chr10 24255515 24255515 + T T A Intron SNP NA NA NA NA intronic ENSG00000120549.18 . . . 10p12.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1217 127 0 117 17 0.126865671641791 TRUE NA +ENSG00000233805.1 . BCM GRCh38.p13 chr10 53808941 53808941 + T T C IGR SNP NA NA NA NA intergenic ENSG00000233805.1;ENSG00000150275.18 dist=42327;dist=12335 . . 10q21.1 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL365496.1 401 0 215 40 0.156862745098039 TRUE TRUE +ENSG00000255624.3 . BCM GRCh38.p13 chr10 122883863 122883863 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000255624.3 . . . 10q26.13 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C10orf88B 217 0 94 18 0.160714285714286 TRUE NA +ENSG00000187483.9 . BCM GRCh38.p13 chr14 94643710 94643710 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000187483.9 . . . 14q32.13 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINA13P 217 0 197 44 0.182572614107884 TRUE NA +ENSG00000127578.7 . BCM GRCh38.p13 chr16 630394 630394 + C C T 5'Flank SNP NA NA NA NA upstream ENSG00000127578.7 dist=591 . . 16p13.3 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WFIKKN1 28 0 36 5 0.121951219512195 TRUE NA +ENSG00000034152.19 . BCM GRCh38.p13 chr17 21288071 21288071 + G G A Intron SNP NA NA NA NA intronic ENSG00000034152.19 . . . 17p11.2 C3N-01220 . . . . . . . . . 3.10 . . . . . D . . D . T T . 0.170 0.158 0.696 . . T T T D . 1.130 13.050 0.901 N N -0.062 2.297 -0.125 1.978 1.000 0.517 0.166 0.479 0.273 . 3.530 2.560 1.938 0.993 0.604 0.987 0.172 0.045 862 . . . . MAP2K3 179 0 307 29 0.0863095238095238 TRUE NA +ENSG00000156284.6 . BCM GRCh38.p13 chr21 30215232 30215232 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000156284.6 ENST00000399899.2:c.*16T>A . . 21q22.11 C3N-01220 8.322e-06 0 0 0 0 1.508e-05 0 0 rs781440822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLDN8 89 0 49 11 0.183333333333333 TRUE NA +ENSG00000178605.13 . BCM GRCh38.p13 chrX 312627 312627 + C C T Intron SNP NA NA NA NA intronic ENSG00000178605.13 . . . Xp22.33 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTPBP6 390 0 403 77 0.160416666666667 TRUE NA +ENSG00000150760.12 . BCM GRCh38.p13 chr10 126996823 126996824 + TC TC AG Unknown MNP ENST00000280333.9 exon7 c.549_550delinsAG p.S183_L184delinsRV exonic ENSG00000150760.12 . nonframeshift substitution ENSG00000150760.12:ENST00000280333.9:exon7:c.549_550delinsAG:p.S183_L184delinsRV 10q26.2 C3N-01220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK1 144 8 60 8 0.117647058823529 TRUE TRUE +ENSG00000181773.7 . BCM GRCh38.p13 chr1 27394178 27394178 + T T C Missense_Mutation SNP ENST00000374024.4 exon2 c.T380C p.L127P exonic ENSG00000181773.7 . nonsynonymous SNV ENSG00000181773.7:ENST00000374024.4:exon2:c.T380C:p.L127P 1p36.11 C3N-01261 . . . . . . . . . 19.20 D D D D D D H D D 0.991 D D D 0.965 0.888 0.975 1.592 T D D D D D 4.218 28.800 0.998 D D 0.965 12.870 0.873 12.662 1.000 0.635 0.759 0.644 0.568 . 5.460 5.460 8.015 1.138 0.665 1.000 0.997 0.998 641 GPCR,_rhodopsin-like,_7TM . . . GPR3 267 0 164 51 0.237209302325581 TRUE TRUE +ENSG00000085552.17 . BCM GRCh38.p13 chr1 159932556 159932556 + G G A Missense_Mutation SNP ENST00000368094.6 exon10 c.C1201T p.L401F exonic ENSG00000085552.17 . nonsynonymous SNV ENSG00000085552.17:ENST00000368094.6:exon10:c.C1201T:p.L401F 1q23.2 C3N-01261 . . . . . . . . . 2.20 T T B B N N L T N 0.166 T T D 0.013 0.274 0.529 0.277 T T T T T D 1.859 18.170 0.994 N N -0.376 1.435 -0.270 1.627 1.000 0.707 0.547 0.725 0.613 . 4.700 3.790 0.897 1.176 0.671 0.035 0.898 0.469 873 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IGSF9 212 0 137 32 0.189349112426035 TRUE TRUE +ENSG00000158882.15 . BCM GRCh38.p13 chr1 161228734 161228734 + T T C Missense_Mutation SNP ENST00000367988.8 exon9 c.T704C p.F235S exonic ENSG00000158882.15 . nonsynonymous SNV ENSG00000158882.15:ENST00000367988.8:exon9:c.T704C:p.F235S 1q23.3 C3N-01261 . . . . . . . . . 13.20 D D D P D D M T D 0.888 T T D 0.501 0.706 0.361 1.674 T T D D D T 4.470 32 0.999 D D 0.761 8.068 0.754 8.883 1.000 0.707 0.725 0.725 0.714 . 5.630 5.630 7.675 1.138 0.665 1.000 1.000 0.999 715 . . . . TOMM40L 116 0 110 7 0.0598290598290598 TRUE TRUE +ENSG00000071575.11 . BCM GRCh38.p13 chr2 12723519 12723519 + A A T Missense_Mutation SNP ENST00000155926.8 exon2 c.A530T p.K177M exonic ENSG00000071575.11 . nonsynonymous SNV ENSG00000071575.11:ENST00000155926.8:exon2:c.A530T:p.K177M 2p24.3 C3N-01261 . . . . . . . . . 20.20 D D D D D D H D D 0.844 D D D 0.935 0.919 0.916 2.237 D D D D D D 4.299 29.600 0.996 D D 1.105 17.738 0.998 18.697 1.000 0.707 0.634 0.702 0.714 . 5.630 5.630 9.325 1.312 0.756 1.000 1.000 0.998 969 Protein_kinase_domain . . . TRIB2 201 1 151 12 0.0736196319018405 TRUE TRUE +ENSG00000144283.21 . BCM GRCh38.p13 chr2 158666426 158666426 + T T G Missense_Mutation SNP ENST00000389759.7 exon16 c.T2591G p.I864S exonic ENSG00000144283.21 . nonsynonymous SNV ENSG00000144283.21:ENST00000389759.7:exon16:c.T2591G:p.I864S 2q24.1 C3N-01261 . . . . . . . . . 17.20 D D D D D D M T D 0.964 T T D 0.771 0.538 0.881 0.841 D D D D D D 4.797 33 0.996 D D 0.867 10.233 0.819 10.712 1.000 0.732 0.709 0.744 0.632 . 5.410 5.410 7.948 1.138 0.665 1.000 0.980 0.992 822 . . . . PKP4 58 0 50 11 0.180327868852459 TRUE TRUE +ENSG00000115267.8 . BCM GRCh38.p13 chr2 162277529 162277529 + C C A Missense_Mutation SNP ENST00000649979.2 exon10 c.G1930T p.D644Y exonic ENSG00000115267.8 . nonsynonymous SNV ENSG00000115267.8:ENST00000649979.2:exon10:c.G1930T:p.D644Y 2q24.2 C3N-01261 . . . . . . . . . 5.20 D D P P N N M T N 0.382 T T T 0.140 0.332 0.589 0.128 T T T T D T 2.160 20.600 0.984 D N 0.131 3.012 0.026 2.451 1.000 0.707 0.725 0.618 0.668 . 4.860 4.860 1.173 0.966 0.530 0.029 0.281 0.332 474 . . . . IFIH1 220 0 212 60 0.220588235294118 TRUE TRUE +ENSG00000071909.18 . BCM GRCh38.p13 chr2 170519446 170519446 + G G C Missense_Mutation SNP ENST00000408978.8 exon30 c.G3481C p.G1161R exonic ENSG00000071909.18 . nonsynonymous SNV ENSG00000071909.18:ENST00000408978.8:exon30:c.G3481C:p.G1161R 2q31.1 C3N-01261 . . . . . . . . . 1.19 T . B B U N N T N 0.267 T T D 0.158 0.247 0.615 0.093 T T T T T T 0.235 3.530 0.225 N N -1.240 0.200 -1.286 0.218 0.001 0.554 0.588 0.547 0.613 . 3.670 -1.770 0.061 0.245 0.606 0.000 0.002 0.046 294 . . . . MYO3B 121 0 85 25 0.227272727272727 TRUE TRUE +ENSG00000124831.19 . BCM GRCh38.p13 chr2 237748364 237748364 + G G A Missense_Mutation SNP ENST00000392000.4 exon5 c.G250A p.V84I exonic ENSG00000124831.19 . nonsynonymous SNV ENSG00000124831.19:ENST00000392000.4:exon5:c.G250A:p.V84I 2q37.3 C3N-01261 . . . . . . . . . 6.20 D T P P N D L T N 0.362 T T D 0.032 0.234 0.618 0.294 T T T T D D 4.380 31 0.998 D N 0.200 3.305 0.289 3.653 0.999 0.707 0.577 0.651 0.714 . 5.030 5.030 4.822 1.176 0.676 1.000 0.935 0.745 986 . . . . LRRFIP1 100 0 64 20 0.238095238095238 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142041 10142041 + C C T Missense_Mutation SNP ENST00000256474.3 exon1 c.C194T p.S65L exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.C194T:p.S65L 3p25.3 C3N-01261 . . . . . . . . rs5030826 16.20 T D P B N D M D D 0.958 D D D 0.782 0.820 0.996 1.009 D D D D D D 3.465 24.600 0.999 D D 0.314 3.850 0.299 3.714 1.000 0.442 0.522 0.522 0.562 . 5.540 4.670 4.919 0.877 0.521 0.998 0.979 0.215 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56543026;OCCURENCE=24(kidney) VHL 330 0 123 71 0.365979381443299 TRUE TRUE +ENSG00000012171.20 . BCM GRCh38.p13 chr3 50271008 50271008 + A A T Missense_Mutation SNP ENST00000616701.5 exon4 c.A449T p.E150V exonic ENSG00000012171.20 . nonsynonymous SNV ENSG00000012171.20:ENST00000616701.5:exon4:c.A449T:p.E150V 3p21.31 C3N-01261 . . . . . . . . . 3.13 . D B B N . . . . 0.550 T T . 0.463 0.625 0.572 . T T T T D T 4.310 29.700 0.923 D . 0.038 2.649 0.144 2.924 1.000 0.091 0.097 0.129 0.083 0.748 4.930 4.930 7.446 1.312 0.688 1.000 0.946 0.152 3 Sema_domain . . . SEMA3B 183 0 73 35 0.324074074074074 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52550631 52550646 + CTCCCACCTGAAAGAG CTCCCACCTGAAAGAG - Frame_Shift_Del DEL ENST00000296302.11 exon29 c.4681_4687del p.V1561Ffs*33 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon29:c.4681_4687del:p.V1561Ffs*33 3p21.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 40 0 14 10 0.416666666666667 TRUE TRUE +ENSG00000018408.14 . BCM GRCh38.p13 chr3 149542424 149542424 + G G C Missense_Mutation SNP ENST00000465804.5 exon5 c.C682G p.Q228E exonic ENSG00000018408.14 . nonsynonymous SNV ENSG00000018408.14:ENST00000465804.5:exon5:c.C682G:p.Q228E 3q25.1 C3N-01261 . . . . . . . . . 7.20 T D P P N D M T N 0.636 T T T 0.168 0.255 0.568 1.390 T T T T D D 3.315 24.200 0.993 D D 0.622 6.158 0.636 6.701 1.000 0.731 0.654 0.710 0.649 . 5.260 5.260 7.348 1.176 0.676 1.000 1.000 0.986 671 . . . ID=COSV62291505;OCCURENCE=1(oesophagus) WWTR1 165 0 107 33 0.235714285714286 TRUE TRUE +ENSG00000138641.18 . BCM GRCh38.p13 chr4 88668063 88668063 + A A T Missense_Mutation SNP ENST00000402738.6 exon14 c.A1615T p.N539Y exonic ENSG00000138641.18;ENSG00000287542.1 . nonsynonymous SNV ENSG00000138641.18:ENST00000402738.6:exon14:c.A1615T:p.N539Y,ENSG00000287542.1:ENST00000512194.2:exon15:c.A1615T:p.N539Y 4q22.1 C3N-01261 . . . . . . . . . 13.20 D D D P D D M T N 0.860 T T D 0.189 0.452 0.202 1.663 T T D D D D 4.036 27.200 0.989 D D 0.668 6.693 0.690 7.573 1.000 0.706 0.634 0.618 0.613 . 5.650 5.650 8.726 1.312 0.756 1.000 1.000 0.998 758 . . . . HERC3 236 0 93 40 0.300751879699248 TRUE TRUE +ENSG00000205301.12 . BCM GRCh38.p13 chr4 140456684 140456684 + C C A Missense_Mutation SNP ENST00000511113.6 exon9 c.G913T p.V305L exonic ENSG00000205301.12 . nonsynonymous SNV ENSG00000205301.12:ENST00000511113.6:exon9:c.G913T:p.V305L 4q31.1 C3N-01261 . . . . . . . . . 6.16 D D . . . D . T N 0.457 T T D 0.181 0.741 0.275 . T T T T T D 2.150 20.500 0.979 D N -0.111 2.141 -0.158 1.890 0.280 0.487 0.574 0.574 0.542 . 5.260 3.540 3.495 0.941 0.496 1.000 0.927 0.343 688 . . . . MGAT4D 70 0 90 5 0.0526315789473684 NA TRUE +ENSG00000112851.14 . BCM GRCh38.p13 chr5 66054574 66054574 + G G T Missense_Mutation SNP ENST00000284037.9 exon21 c.G3256T p.V1086L exonic ENSG00000112851.14 . nonsynonymous SNV ENSG00000112851.14:ENST00000284037.9:exon21:c.G3256T:p.V1086L 5q12.3 C3N-01261 . . . . . . . . . 3.19 T T B B N D . T N 0.117 T T T 0.045 0.073 0.117 0.074 T T T T T D 1.889 18.400 0.957 D N -0.236 1.778 -0.094 2.065 0.843 0.707 0.702 0.702 0.714 . 5.430 3.580 1.969 0.228 0.676 1.000 1.000 0.999 804 . . . . ERBIN 244 0 261 16 0.0577617328519856 TRUE TRUE +ENSG00000197451.12 . BCM GRCh38.p13 chr5 178207097 178207097 + G G C Missense_Mutation SNP ENST00000358344.8 exon5 c.G541C p.E181Q exonic ENSG00000197451.12 . nonsynonymous SNV ENSG00000197451.12:ENST00000358344.8:exon5:c.G541C:p.E181Q 5q35.3 C3N-01261 . . . . . . . . . 16.20 D T D D D D L D D 0.737 D D D 0.739 0.549 0.892 1.360 T T D D D D 4.315 29.700 0.998 D D 0.542 5.380 0.512 5.271 1.000 0.628 0.672 0.686 0.639 . 4.800 3.930 9.242 1.167 0.668 1.000 0.997 0.988 952 RNA_recognition_motif_domain . . . HNRNPAB 60 0 51 21 0.291666666666667 TRUE TRUE +ENSG00000112679.14 . BCM GRCh38.p13 chr6 311924 311924 + A A G Missense_Mutation SNP ENST00000344450.9 exon3 c.A100G p.I34V exonic ENSG00000112679.14 . nonsynonymous SNV ENSG00000112679.14:ENST00000344450.9:exon3:c.A100G:p.I34V 6p25.3 C3N-01261 . . . . . . . . . 6.20 T T P B D D L T N 0.627 T T T 0.164 0.632 0.683 0.317 T T T T D D 3.060 23.500 0.997 D D 0.329 3.933 0.453 4.754 1.000 0.707 0.602 0.688 0.714 . 5.990 5.990 5.523 1.312 0.756 1.000 0.999 0.997 942 Dual_specificity_phosphatase,_catalytic_domain;Dual_specificity_protein_phosphatase_domain . . ID=COSV104652115;OCCURENCE=1(skin) DUSP22 140 0 113 12 0.096 TRUE TRUE +ENSG00000168477.19 . BCM GRCh38.p13 chr6 32064871 32064871 + C C T Missense_Mutation SNP ENST00000644971.2 exon19 c.G6791A p.G2264D exonic ENSG00000168477.19 . nonsynonymous SNV ENSG00000168477.19:ENST00000644971.2:exon19:c.G6791A:p.G2264D 6p21.33 C3N-01261 . . . . . . . . . 11.17 D D . . D D . T D 0.551 T T T 0.373 - 0.646 . T T D D D D 3.301 24.100 0.998 D D 0.818 9.139 0.716 8.054 0.986 0.615 0.627 0.659 0.542 . 4.820 4.820 4.938 1.005 0.549 0.981 0.569 0.363 917 Fibronectin_type_III . . . TNXB 260 0 134 42 0.238636363636364 TRUE TRUE +ENSG00000186439.14 . BCM GRCh38.p13 chr6 123571118 123571118 + T T C Missense_Mutation SNP ENST00000334268.9 exon2 c.A37G p.T13A exonic ENSG00000186439.14 . nonsynonymous SNV ENSG00000186439.14:ENST00000334268.9:exon2:c.A37G:p.T13A 6q22.31 C3N-01261 . . . . . . . . . 7.20 D D B B D N L T N 0.839 T T D 0.163 0.562 0.506 . T T T T D T 3.142 23.700 0.988 D D 0.149 3.084 0.231 3.337 0.326 0.615 0.574 0.659 0.530 . 5.820 4.670 5.635 1.138 0.665 1.000 0.977 0.972 839 . . . . TRDN 192 0 186 13 0.0653266331658292 TRUE TRUE +ENSG00000131018.24 . BCM GRCh38.p13 chr6 152385735 152385735 + T T C Missense_Mutation SNP ENST00000367255.10 exon55 c.A8591G p.H2864R exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon55:c.A8591G:p.H2864R 6q25.2 C3N-01261 . . . . . . . . . 7.20 T T P B D D M T N 0.655 T T T 0.128 0.325 0.494 0.253 T T T T D D 2.589 22.600 0.962 D D 0.369 4.159 0.470 4.899 1.000 0.487 0.574 0.547 0.564 . 5.660 5.660 7.642 1.138 0.609 1.000 0.997 0.997 855 . . . . SYNE1 341 0 255 86 0.252199413489736 TRUE TRUE +ENSG00000223443.2 . BCM GRCh38.p13 chr8 12138201 12138201 + G G - Frame_Shift_Del DEL ENST00000333796.3 exon1 c.560delC p.S187Lfs*55 exonic ENSG00000223443.2 . frameshift deletion ENSG00000223443.2:ENST00000333796.3:exon1:c.560delC:p.S187Lfs*55 8p23.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP17L2 111 0 52 28 0.35 NA TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112295989 112295989 + G G A Missense_Mutation SNP ENST00000297405.10 exon54 c.C8458T p.P2820S exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon54:c.C8458T:p.P2820S 8q23.3 C3N-01261 . . . . . . . . . 18.20 D D D D D D H D D 0.884 D D D 0.795 0.688 0.886 0.658 T T D D D D 4.066 27.500 0.999 D D 0.948 12.371 0.842 11.499 1.000 0.487 0.574 0.514 0.564 . 5.310 5.310 9.968 1.155 0.676 1.000 0.999 0.890 840 Sushi/SCR/CCP_domain . . ID=COSV99828017;OCCURENCE=1(breast) CSMD3 235 0 237 60 0.202020202020202 TRUE TRUE +ENSG00000120215.10 . BCM GRCh38.p13 chr9 5906935 5906935 + A A - Frame_Shift_Del DEL ENST00000381477.8 exon4 c.225delA p.Q76Kfs*50 exonic ENSG00000120215.10 . frameshift deletion ENSG00000120215.10:ENST00000381477.8:exon4:c.225delA:p.Q76Kfs*50 9p24.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MLANA 147 0 51 20 0.28169014084507 TRUE TRUE +ENSG00000164989.17 . BCM GRCh38.p13 chr9 15744325 15744325 + A A T Missense_Mutation SNP ENST00000380701.8 exon17 c.A2102T p.K701M exonic ENSG00000164989.17 . nonsynonymous SNV ENSG00000164989.17:ENST00000380701.8:exon17:c.A2102T:p.K701M 9p22.3 C3N-01261 . . . . . . . . . 7.20 D D D P N D M T N 0.539 T T T 0.120 0.138 0.072 . T T T T D T 3.379 24.300 0.995 D N 0.302 3.791 0.351 4.027 0.183 0.554 0.588 0.602 0.568 . 6.040 4.890 2.844 0.232 0.756 1.000 0.965 0.971 520 . . . . CCDC171 121 0 75 31 0.292452830188679 TRUE NA +ENSG00000198246.9 . BCM GRCh38.p13 chr10 71322962 71322962 + T T - Frame_Shift_Del DEL ENST00000373189.6 exon2 c.208delT p.F70Sfs*31 exonic ENSG00000198246.9 . frameshift deletion ENSG00000198246.9:ENST00000373189.6:exon2:c.208delT:p.F70Sfs*31 10q22.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC29A3 350 0 266 82 0.235632183908046 TRUE TRUE +ENSG00000120054.12 . BCM GRCh38.p13 chr10 100063637 100063637 + G G A Missense_Mutation SNP ENST00000370418.8 exon5 c.C848T p.A283V exonic ENSG00000120054.12 . nonsynonymous SNV ENSG00000120054.12:ENST00000370418.8:exon5:c.C848T:p.A283V 10q24.2 C3N-01261 . . . . . . . . . 15.20 D D D D D D H T D 0.885 T T D 0.479 0.887 0.569 1.205 D T D T D D 4.191 28.600 0.999 D D 0.961 12.740 0.880 12.912 1.000 0.603 0.574 0.608 0.663 . 5.510 5.510 6.449 1.158 0.654 1.000 0.993 0.992 877 Peptidase_M14,_carboxypeptidase_A . . . CPN1 562 0 371 125 0.252016129032258 TRUE TRUE +ENSG00000021762.20 . BCM GRCh38.p13 chr11 3104199 3104199 + A A G Missense_Mutation SNP ENST00000263650.12 exon10 c.T1238C p.L413P exonic ENSG00000021762.20 . nonsynonymous SNV ENSG00000021762.20:ENST00000263650.12:exon10:c.T1238C:p.L413P 11p15.4 C3N-01261 . . . . . . . . . 15.20 D D D D N D H T D 0.980 D T D 0.733 0.930 0.931 0.779 T T D D D D 4.319 29.700 0.999 D D 0.893 10.873 0.752 8.850 1.000 0.646 0.547 0.645 0.636 . 4.350 4.350 8.560 1.248 0.735 1.000 0.954 0.870 923 . . . . OSBPL5 67 0 37 3 0.075 TRUE NA +ENSG00000186318.16 . BCM GRCh38.p13 chr11 117315656 117315656 + G G C Missense_Mutation SNP ENST00000313005.10 exon1 c.C140G p.T47S exonic ENSG00000186318.16 . nonsynonymous SNV ENSG00000186318.16:ENST00000313005.10:exon1:c.C140G:p.T47S 11q23.3 C3N-01261 . . . . . . . . . 3.20 D T B B D N N T N 0.169 T T T 0.047 0.258 0.557 0.681 T T T T T T 2.225 21.000 0.980 D N -0.226 1.805 -0.023 2.283 1.000 0.658 0.541 0.619 0.581 . 4.990 4.990 3.758 1.085 0.676 0.999 0.999 0.992 811 Peptidase_family_A1_domain . . . BACE1 146 0 56 23 0.291139240506329 TRUE TRUE +ENSG00000109944.11 . BCM GRCh38.p13 chr11 122934794 122934795 + GG GG - Frame_Shift_Del DEL ENST00000227349.7 exon5 c.1353_1354del p.K451Nfs*4 exonic ENSG00000109944.11 . frameshift deletion ENSG00000109944.11:ENST00000227349.7:exon5:c.1353_1354del:p.K451Nfs*4 11q24.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JHY 210 0 161 54 0.251162790697674 TRUE TRUE +ENSG00000236027.3 . BCM GRCh38.p13 chr11 125790492 125790492 + A A G Missense_Mutation SNP ENST00000445202.2 exon3 c.A187G p.I63V exonic ENSG00000236027.3 . nonsynonymous SNV ENSG00000236027.3:ENST00000445202.2:exon3:c.A187G:p.I63V 11q24.2 C3N-01261 . . . . . . . . . 1.18 D T B B . N . T N 0.028 T T T 0.013 0.232 0.014 . T T T T T T -0.357 0.237 0.736 N N -1.373 0.129 -1.512 0.103 0.428 0.554 0.588 0.574 0.530 . 4.190 -8.380 -2.486 -0.195 0.756 0.000 0.238 0.966 591 . . . ID=COSV71323345;OCCURENCE=1(kidney) PATE3 92 0 66 19 0.223529411764706 TRUE TRUE +ENSG00000047621.12 . BCM GRCh38.p13 chr12 4518799 4518799 + - NA A Frame_Shift_Ins NA ENST00000261250.8 exon7 c.809dupT p.L270Ffs*18 exonic ENSG00000047621.12 . frameshift insertion ENSG00000047621.12:ENST00000261250.8:exon7:c.809dupT:p.L270Ffs*18 12p13.32 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C12orf4 NA NA NA NA NA NA NA +ENSG00000074527.13 . BCM GRCh38.p13 chr12 95710554 95710554 + C C T Missense_Mutation SNP ENST00000343702.9 exon5 c.G1067A p.G356D exonic ENSG00000074527.13 . nonsynonymous SNV ENSG00000074527.13:ENST00000343702.9:exon5:c.G1067A:p.G356D 12q22 C3N-01261 . . . . . . . . . 16.20 D D D D D D M T D 0.954 D T D 0.604 0.711 0.859 1.267 T T D D D D 3.166 23.800 0.998 D D 0.786 8.507 0.674 7.301 1.000 0.707 0.563 0.602 0.714 . 5.390 5.390 7.539 1.026 0.599 1.000 0.058 0.006 496 Laminin_EGF_domain . . . NTN4 129 0 104 28 0.212121212121212 TRUE TRUE +ENSG00000173093.13 . BCM GRCh38.p13 chr12 110858590 110858590 + G G T Nonsense_Mutation SNP ENST00000308208.10 exon4 c.G184T p.E62X exonic ENSG00000173093.13 . stopgain ENSG00000173093.13:ENST00000308208.10:exon4:c.G184T:p.E62X 12q24.11 C3N-01261 . . . . . . . . . 4.6 . . . . N D . . . 0.294 . . . . . . . . . D D . . 6.885 36 0.997 D N 0.570 5.632 0.380 4.222 0.837 0.741 0.547 0.768 0.542 . 5.610 3.790 2.080 1.176 0.676 1.000 0.841 0.241 143 . . . . CCDC63 71 0 45 20 0.307692307692308 TRUE TRUE +ENSG00000126216.15 . BCM GRCh38.p13 chr13 112558404 112558404 + A A G Missense_Mutation SNP ENST00000261965.8 exon5 c.T340C p.Y114H exonic ENSG00000126216.15 . nonsynonymous SNV ENSG00000126216.15:ENST00000261965.8:exon5:c.T340C:p.Y114H 13q34 C3N-01261 . . . . . . . . . 7.20 T T P P D D M T N 0.651 T T T 0.189 0.394 0.302 1.201 T T T T D D 2.634 22.700 0.992 D D 0.352 4.057 0.367 4.134 1.000 0.731 0.698 0.744 0.649 . 5.340 5.340 8.279 1.307 0.738 1.000 0.959 0.210 994 . . . . TUBGCP3 39 0 22 14 0.388888888888889 TRUE TRUE +ENSG00000054654.18 . BCM GRCh38.p13 chr14 64214395 64214395 + G G C Missense_Mutation SNP ENST00000344113.8 exon106 c.G19258C p.D6420H exonic ENSG00000054654.18 . nonsynonymous SNV ENSG00000054654.18:ENST00000344113.8:exon106:c.G19258C:p.D6420H 14q23.2 C3N-01261 . . . . . . . . . 20.20 D D D D D D M D D 0.956 D D D 0.625 0.370 0.884 0.347 D D D D D D 4.373 31 0.931 D D 0.915 11.449 0.886 13.175 1.000 0.707 0.702 0.725 0.636 . 5.270 5.270 9.757 1.176 0.676 1.000 1.000 0.995 611 . . . . SYNE2 214 0 143 56 0.281407035175879 TRUE TRUE +ENSG00000100596.6 . BCM GRCh38.p13 chr14 77555300 77555300 + C C A Missense_Mutation SNP ENST00000216484.6 exon8 c.G1176T p.K392N exonic ENSG00000100596.6 . nonsynonymous SNV ENSG00000100596.6:ENST00000216484.6:exon8:c.G1176T:p.K392N 14q24.3 C3N-01261 . . . . . . . . . 19.20 D D D D D D M D D 0.755 D D D 0.824 0.510 0.703 1.542 T D D D D D 6.548 36 0.999 D D 0.896 10.946 0.816 10.625 1.000 0.722 0.699 0.725 0.734 . 4.800 4.800 7.798 1.008 0.549 1.000 0.999 0.947 779 Aminotransferase,_class_I/classII . . . SPTLC2 312 1 239 82 0.255451713395639 TRUE TRUE +ENSG00000066735.14 . BCM GRCh38.p13 chr14 104175541 104175550 + TTGTCTGGGG TTGTCTGGGG - Frame_Shift_Del DEL ENST00000423312.6 exon12 c.2753_2762del p.I918Mfs*21 exonic ENSG00000066735.14 . frameshift deletion ENSG00000066735.14:ENST00000423312.6:exon12:c.2753_2762del:p.I918Mfs*21 14q32.33 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF26A 154 0 80 17 0.175257731958763 TRUE TRUE +ENSG00000167733.13 . BCM GRCh38.p13 chr19 5687988 5687988 + C C - Frame_Shift_Del DEL ENST00000423665.6 exon8 c.741delC p.P248Lfs*15 exonic ENSG00000167733.13 . frameshift deletion ENSG00000167733.13:ENST00000423665.6:exon8:c.741delC:p.P248Lfs*15 19p13.3 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HSD11B1L 422 0 224 73 0.245791245791246 TRUE NA +ENSG00000167232.14 . BCM GRCh38.p13 chr19 23360838 23360838 + T T A Missense_Mutation SNP ENST00000300619.12 exon4 c.A2141T p.Y714F exonic ENSG00000167232.14 . nonsynonymous SNV ENSG00000167232.14:ENST00000300619.12:exon4:c.A2141T:p.Y714F 19p12 C3N-01261 . . . . . . . . . 1.19 T T B B . N N T D 0.273 T T T 0.034 0.801 0.285 0.407 T T T T T T 0.702 8.473 0.742 N N -0.969 0.438 -1.061 0.417 0.000 0.651 0.634 0.659 0.684 . 1.860 1.860 -0.245 0.372 0.304 0.000 0.002 0.006 988 Zinc_finger_C2H2-type . . . ZNF91 127 0 146 27 0.15606936416185 NA TRUE +ENSG00000125850.11 . BCM GRCh38.p13 chr20 18024839 18024839 + G G A Missense_Mutation SNP ENST00000278780.7 exon4 c.C625T p.R209W exonic ENSG00000125850.11 . nonsynonymous SNV ENSG00000125850.11:ENST00000278780.7:exon4:c.C625T:p.R209W 20p11.23 C3N-01261 2.471e-05 0 0 0 0 4.496e-05 0 0 rs372364390 15.20 D D D D D D M T D 0.805 T T D 0.206 . 0.549 1.572 D D T T D D 4.353 30 0.999 D D 0.639 6.340 0.617 6.439 0.009 0.745 0.574 0.732 0.564 . 5.250 5.250 3.264 1.163 0.676 1.000 0.604 0.880 917 . . . . OVOL2 244 0 181 74 0.290196078431373 TRUE NA +ENSG00000101343.14 . BCM GRCh38.p13 chr20 20043557 20043557 + C C T Missense_Mutation SNP ENST00000377340.6 exon8 c.G1390A p.D464N exonic ENSG00000101343.14 . nonsynonymous SNV ENSG00000101343.14:ENST00000377340.6:exon8:c.G1390A:p.D464N 20p11.23 C3N-01261 8.238e-06 0 0 0 0 1.499e-05 0 0 rs757616700 8.20 T T B B D D L T D 0.817 T T T 0.112 0.500 0.430 0.288 D T T T D D 2.901 23.200 0.999 D D 0.231 3.443 0.433 4.603 1.000 0.707 0.725 0.725 0.714 . 6.070 6.070 7.858 1.026 0.599 1.000 1.000 0.998 773 . . . . CRNKL1 134 0 105 31 0.227941176470588 TRUE NA +ENSG00000182463.16 . BCM GRCh38.p13 chr20 53256187 53256187 + C C T Missense_Mutation SNP ENST00000371497.10 exon2 c.C2729T p.T910M exonic ENSG00000182463.16 . nonsynonymous SNV ENSG00000182463.16:ENST00000371497.10:exon2:c.C2729T:p.T910M 20q13.2 C3N-01261 4.961e-05 0 0 0 0 9.007e-05 0 0 rs367984099 14.20 D D D D D D L T D 0.801 T T D 0.388 . 0.741 0.549 D D T T D D 3.729 25.500 0.999 D D 0.726 7.494 0.752 8.840 1.000 0.554 0.574 0.618 0.564 . 5.800 5.800 7.556 1.026 0.589 1.000 0.957 0.958 970 Homeobox_domain . . ID=COSV61588299;OCCURENCE=1(breast),1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(skin),1(lung) TSHZ2 48 0 40 16 0.285714285714286 TRUE TRUE +ENSG00000008056.14 . BCM GRCh38.p13 chrX 47574209 47574209 + T T C Missense_Mutation SNP ENST00000295987.13 exon12 c.A1775G p.Q592R exonic ENSG00000008056.14 . nonsynonymous SNV ENSG00000008056.14:ENST00000295987.13:exon12:c.A1775G:p.Q592R Xp11.3 C3N-01261 . . . . . . . . . 4.19 T T P B N D L T N 0.344 T T D 0.065 0.305 0.282 1.939 D T T T T T 2.637 22.700 0.954 D . . . . . 1.000 . . . . . 4.370 4.370 4.545 1.052 0.570 1.000 1.000 0.992 533 . . . . SYN1 33 0 25 3 0.107142857142857 TRUE NA +ENSG00000068308.13 . BCM GRCh38.p13 chrX 48934490 48934490 + G G T Missense_Mutation SNP ENST00000156084.8 exon5 c.C1048A p.L350M exonic ENSG00000068308.13 . nonsynonymous SNV ENSG00000068308.13:ENST00000156084.8:exon5:c.C1048A:p.L350M Xp11.23 C3N-01261 . . . . . . . . . 13.18 D D D D D D M . N 0.500 T T D 0.304 0.683 0.654 2.728 T T D D D D 3.419 24.500 0.996 D . . . . . 1.000 . . . . . 5.610 2.920 5.681 1.174 0.671 1.000 1.000 0.998 35 . . . . OTUD5 74 0 48 3 0.0588235294117647 TRUE NA +ENSG00000204422.7 . BCM GRCh38.p13 chr6 31691802 31691802 + A A - Splice_Site SNP NA NA NA NA splicing ENSG00000204422.7;ENSG00000204427.12 ENST00000461287.1:exon10:c.886+2T>-;ENST00000461287.1:exon10:UTR3;ENST00000395952.8:exon8:c.741+2T>- . . 6p21.33 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL662899.3 70 0 42 19 0.311475409836066 TRUE NA +ENSG00000154358.21 . BCM GRCh38.p13 chr1 228244528 228244528 + T T C Silent SNP ENST00000422127.5 exon11 c.T3438C p.C1146C exonic ENSG00000154358.21 . synonymous SNV ENSG00000154358.21:ENST00000422127.5:exon11:c.T3438C:p.C1146C 1q42.13 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99485627;OCCURENCE=1(stomach) OBSCN 144 0 108 30 0.217391304347826 TRUE TRUE +ENSG00000119866.22 . BCM GRCh38.p13 chr2 60461556 60461556 + G G T Silent SNP ENST00000642384.2 exon4 c.C1356A p.T452T exonic ENSG00000119866.22 . synonymous SNV ENSG00000119866.22:ENST00000642384.2:exon4:c.C1356A:p.T452T 2p16.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCL11A 382 2 223 76 0.254180602006689 TRUE TRUE +ENSG00000188886.3 . BCM GRCh38.p13 chr2 96123991 96123991 + C C T Silent SNP ENST00000342380.2 exon9 c.G1155A p.Q385Q exonic ENSG00000188886.3 . synonymous SNV ENSG00000188886.3:ENST00000342380.2:exon9:c.G1155A:p.Q385Q 2q11.2 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASTL 272 0 153 56 0.267942583732057 TRUE TRUE +ENSG00000104518.11 . BCM GRCh38.p13 chr8 143559434 143559434 + C C T Silent SNP ENST00000262580.9 exon2 c.C99T p.G33G exonic ENSG00000104518.11 . synonymous SNV ENSG00000104518.11:ENST00000262580.9:exon2:c.C99T:p.G33G 8q24.3 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GSDMD 255 0 135 40 0.228571428571429 TRUE TRUE +ENSG00000186895.4 . BCM GRCh38.p13 chr11 69810482 69810482 + G G A Silent SNP ENST00000334134.4 exon3 c.C543T p.R181R exonic ENSG00000186895.4 . synonymous SNV ENSG00000186895.4:ENST00000334134.4:exon3:c.C543T:p.R181R 11q13.3 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61925969;OCCURENCE=1(oesophagus) FGF3 143 0 96 32 0.25 TRUE TRUE +ENSG00000261594.4 . BCM GRCh38.p13 chr11 75241478 75241478 + G G T Silent SNP ENST00000562197.3 exon1 c.G429T p.A143A exonic ENSG00000261594.4 . synonymous SNV ENSG00000261594.4:ENST00000562197.3:exon1:c.G429T:p.A143A 11q13.4 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TPBGL 40 0 11 3 0.214285714285714 TRUE NA +ENSG00000102781.14 . BCM GRCh38.p13 chr13 30283751 30283751 + A A G Silent SNP ENST00000380615.8 exon2 c.T27C p.N9N exonic ENSG00000102781.14 . synonymous SNV ENSG00000102781.14:ENST00000380615.8:exon2:c.T27C:p.N9N 13q12.3 C3N-01261 5.771e-05 0 0 0.0008 0 0 0 0 rs771208247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KATNAL1 90 0 127 7 0.0522388059701493 TRUE NA +ENSG00000157227.13 . BCM GRCh38.p13 chr14 22836841 22836841 + C C T Silent SNP ENST00000311852.11 exon1 c.C24T p.P8P exonic ENSG00000157227.13 . synonymous SNV ENSG00000157227.13:ENST00000311852.11:exon1:c.C24T:p.P8P 14q11.2 C3N-01261 3.442e-05 0 0 0.0005 0 0 0 0 rs757696438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP14 77 0 50 21 0.295774647887324 TRUE TRUE +ENSG00000088808.18 . BCM GRCh38.p13 chr14 103736108 103736108 + T T C Silent SNP ENST00000202556.14 exon16 c.A3126G p.E1042E exonic ENSG00000088808.18 . synonymous SNV ENSG00000088808.18:ENST00000202556.14:exon16:c.A3126G:p.E1042E 14q32.33 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R13B 376 0 288 68 0.191011235955056 TRUE TRUE +ENSG00000140265.12 . BCM GRCh38.p13 chr15 43361403 43361403 + G G A Silent SNP ENST00000396976.6 exon5 c.C2229T p.F743F exonic ENSG00000140265.12 . synonymous SNV ENSG00000140265.12:ENST00000396976.6:exon5:c.C2229T:p.F743F 15q15.3 C3N-01261 8.237e-06 0 0 0 0 1.498e-05 0 0 rs775585338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSCAN29 151 0 112 40 0.263157894736842 TRUE NA +ENSG00000178802.18 . BCM GRCh38.p13 chr15 74891465 74891465 + G G A Silent SNP ENST00000352410.9 exon3 c.G231A p.E77E exonic ENSG00000178802.18 . synonymous SNV ENSG00000178802.18:ENST00000352410.9:exon3:c.G231A:p.E77E 15q24.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPI 492 0 343 105 0.234375 TRUE TRUE +ENSG00000205309.14 . BCM GRCh38.p13 chr17 17344856 17344856 + C C T Silent SNP ENST00000389022.9 exon4 c.C492T p.D164D exonic ENSG00000205309.14 . synonymous SNV ENSG00000205309.14:ENST00000389022.9:exon4:c.C492T:p.D164D 17p11.2 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NT5M 109 0 115 19 0.141791044776119 TRUE TRUE +ENSG00000004139.14 . BCM GRCh38.p13 chr17 28384904 28384904 + C C T Silent SNP ENST00000585482.6 exon4 c.C1368T p.G456G exonic ENSG00000004139.14 . synonymous SNV ENSG00000004139.14:ENST00000585482.6:exon4:c.C1368T:p.G456G 17q11.2 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SARM1 252 0 172 30 0.148514851485149 TRUE TRUE +ENSG00000204859.13 . BCM GRCh38.p13 chr1 6586948 6586948 + A A T Intron SNP NA NA NA NA intronic ENSG00000204859.13 . . . 1p36.31 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBTB48 187 0 118 43 0.267080745341615 TRUE NA +ENSG00000183831.7 . BCM GRCh38.p13 chr1 173657410 173657410 + G G C Intron SNP NA NA NA NA intronic ENSG00000183831.7;ENSG00000285777.1 . . . 1q25.1 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD45 33 0 8 9 0.529411764705882 TRUE NA +ENSG00000154358.21 . BCM GRCh38.p13 chr1 228356226 228356226 + G G T Intron SNP NA NA NA NA intronic ENSG00000154358.21 . . . 1q42.13 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OBSCN 335 0 257 87 0.252906976744186 TRUE NA +ENSG00000179915.23 . BCM GRCh38.p13 chr2 50346911 50346911 + G G T Intron SNP NA NA NA NA intronic ENSG00000179915.23 . . . 2p16.3 C3N-01261 . . . . . . . . rs966628262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRXN1 101 0 33 3 0.0833333333333333 TRUE NA +ENSG00000178055.13 . BCM GRCh38.p13 chr3 46833546 46833546 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000178055.13 . . . 3p21.31 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS42P 182 0 117 7 0.0564516129032258 TRUE NA +ENSG00000015479.19 . BCM GRCh38.p13 chr5 139331252 139331252 + A A - 3'UTR SNP NA NA NA NA UTR3 ENSG00000015479.19 ENST00000394805.8:c.*1857delA . . 5q31.2 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MATR3 326 0 290 71 0.196675900277008 TRUE NA +ENSG00000236548.2 . BCM GRCh38.p13 chr6 124909092 124909092 + T T A 3'Flank SNP NA NA NA NA downstream ENSG00000236548.2 dist=1 . . 6q22.31 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF217-AS1 76 0 21 13 0.382352941176471 TRUE NA +ENSG00000189067.12 . BCM GRCh38.p13 chr16 11548241 11548241 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000189067.12 ENST00000571688.5:c.*1396G>T . . 16p13.13 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LITAF 127 0 128 35 0.214723926380368 TRUE NA +ENSG00000276231.5 . BCM GRCh38.p13 chr17 8867637 8867637 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000276231.5 ENST00000619866.5:c.-17843G>A . . 17p13.1 C3N-01261 5.466e-05 0.0005 0 0.0001 0 0 0 6.999e-05 rs759372906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3R6 52 0 30 11 0.268292682926829 TRUE NA +ENSG00000225180.8 . BCM GRCh38.p13 chr17 81166716 81166716 + C C A 5'UTR SNP NA NA NA NA UTR5 ENSG00000225180.8 ENST00000637878.2:c.-14511C>A . . 17q25.3 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PVALEF 167 0 104 38 0.267605633802817 TRUE NA +ENSG00000167664.8 . BCM GRCh38.p13 chr19 4292564 4292564 + A A C 3'UTR SNP NA NA NA NA UTR3 ENSG00000167664.8 ENST00000301272.6:c.*35T>G . . 19p13.3 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100010492;OCCURENCE=1(skin) TMIGD2 217 0 78 13 0.142857142857143 TRUE NA +ENSG00000232871.8 . BCM GRCh38.p13 chr19 48680238 48680238 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000232871.8 . . . 19q13.33 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC1P 311 0 222 59 0.209964412811388 TRUE NA +ENSG00000113851.14 . BCM GRCh38.p13 chr3 3174251 3174252 + GC GC AA Unknown MNP ENST00000231948.8 exon3 c.184_185delinsTT p.A62F exonic ENSG00000113851.14 . nonframeshift substitution ENSG00000113851.14:ENST00000231948.8:exon3:c.184_185delinsTT:p.A62F 3p26.2 C3N-01261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRBN 192 0 97 27 0.217741935483871 TRUE NA +ENSG00000116688.17 . BCM GRCh38.p13 chr1 12005902 12005902 + C C T Missense_Mutation SNP ENST00000235329.10 exon15 c.C1687T p.R563C exonic ENSG00000116688.17 . nonsynonymous SNV ENSG00000116688.17:ENST00000235329.10:exon15:c.C1687T:p.R563C 1p36.22 C3N-01361 7.413e-05 9.61e-05 0 0 0 2.997e-05 0 0.0004 rs747733583 11.20 D D B B D D M T D 0.517 T T D 0.315 . 0.774 0.279 T D T D T T 3.293 24.100 0.998 D D 0.145 3.069 0.283 3.618 1.000 0.731 0.750 0.725 0.714 . 4.790 4.790 5.864 0.129 -0.171 1.000 0.996 0.990 774 . . . . MFN2 296 0 281 63 0.183139534883721 TRUE NA +ENSG00000081721.12 . BCM GRCh38.p13 chr1 161749962 161749962 + C C T Missense_Mutation SNP ENST00000367943.5 exon1 c.C161T p.T54M exonic ENSG00000081721.12 . nonsynonymous SNV ENSG00000081721.12:ENST00000367943.5:exon1:c.C161T:p.T54M 1q23.3 C3N-01361 . . . . . . . . . 8.20 T T D P D D M T D 0.400 T T D 0.442 0.651 0.886 0.589 T D T T D T 3.396 24.400 0.998 N N 0.568 5.612 0.454 4.768 1.000 0.442 0.522 0.522 0.562 . 4.850 3.920 1.786 1.026 0.599 0.841 0.994 0.919 652 Dual_specificity_phosphatase,_catalytic_domain;Dual_specificity_protein_phosphatase_domain . . . DUSP12 262 0 157 44 0.218905472636816 TRUE TRUE +ENSG00000115464.15 . BCM GRCh38.p13 chr2 61229588 61229588 + C C G Missense_Mutation SNP ENST00000398571.7 exon59 c.G7159C p.V2387L exonic ENSG00000115464.15 . nonsynonymous SNV ENSG00000115464.15:ENST00000398571.7:exon59:c.G7159C:p.V2387L 2p15 C3N-01361 . . . . . . . . . 6.20 T T B B D D N T N 0.627 T T T 0.242 0.375 0.361 . T T T T D D 2.146 20.500 0.973 D D 0.043 2.666 0.239 3.381 1.000 0.732 0.639 0.744 0.714 . 5.510 5.510 6.072 1.010 0.580 1.000 1.000 0.995 269 . . . . USP34 199 0 147 23 0.135294117647059 TRUE TRUE +ENSG00000125633.11 . BCM GRCh38.p13 chr2 117946882 117946882 + C C - Frame_Shift_Del NA ENST00000376300.7 exon16 c.1225delG p.E409Rfs*3 exonic ENSG00000125633.11 . frameshift deletion ENSG00000125633.11:ENST00000376300.7:exon16:c.1225delG:p.E409Rfs*3 2q14.1 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC93 174 0 150 31 0.171270718232044 TRUE TRUE +ENSG00000115556.14 . BCM GRCh38.p13 chr2 218615985 218615985 + T T C Missense_Mutation SNP ENST00000450993.7 exon3 c.T104C p.L35P exonic ENSG00000115556.14 . nonsynonymous SNV ENSG00000115556.14:ENST00000450993.7:exon3:c.T104C:p.L35P 2q35 C3N-01361 . . . . . . . . . 3.20 T D B B N D N T N 0.242 T T T 0.140 0.537 0.400 0.362 T T T T T T 1.654 16.720 0.924 D N -0.715 0.787 -0.584 1.070 0.876 0.516 0.574 0.547 0.586 . 4.980 0.877 1.091 0.194 -0.136 0.999 0.992 0.982 925 Pleckstrin_homology_domain . . . PLCD4 192 0 178 38 0.175925925925926 TRUE TRUE +ENSG00000214021.16 . BCM GRCh38.p13 chr3 9812996 9812996 + G G T Missense_Mutation SNP ENST00000426895.9 exon3 c.G531T p.L177F exonic ENSG00000214021.16;ENSG00000250151.9 . nonsynonymous SNV ENSG00000214021.16:ENST00000426895.9:exon3:c.G531T:p.L177F,ENSG00000250151.9:ENST00000397256.5:exon5:c.G384T:p.L128F 3p25.3 C3N-01361 . . . . . . . . . 11.16 D D . . U D . T D 0.727 T T D 0.386 0.523 0.351 0.497 T . D D D D 3.165 23.800 0.999 D D 0.629 6.231 0.527 5.410 1.000 0.707 0.702 0.659 0.714 . 5.640 4.770 2.565 1.176 0.676 1.000 0.896 0.671 480 . . . . TTLL3 47 0 27 5 0.15625 NA TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142136 10142136 + C C - Frame_Shift_Del NA ENST00000256474.3 exon1 c.289delC p.Y98Tfs*61 exonic ENSG00000134086.8 . frameshift deletion ENSG00000134086.8:ENST00000256474.3:exon1:c.289delC:p.Y98Tfs*61 3p25.3 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHL 377 0 221 125 0.361271676300578 TRUE TRUE +ENSG00000083857.14 . BCM GRCh38.p13 chr4 186617777 186617777 + T T C Missense_Mutation SNP ENST00000441802.7 exon10 c.A8809G p.I2937V exonic ENSG00000083857.14 . nonsynonymous SNV ENSG00000083857.14:ENST00000441802.7:exon10:c.A8809G:p.I2937V 4q35.2 C3N-01361 . . . . . . . . . 2.20 T T B B N D N T N 0.090 T T T 0.079 0.483 0.061 0.083 T T T T T T 0.108 2.161 0.170 D N -1.207 0.222 -1.086 0.390 1.000 0.732 0.574 0.744 0.668 . 4.890 1.020 1.452 -0.163 -0.137 0.922 0.001 0.001 878 Cadherin-like . . . FAT1 94 0 93 17 0.154545454545455 TRUE NA +ENSG00000091010.6 . BCM GRCh38.p13 chr5 146339746 146339746 + C C T Missense_Mutation SNP ENST00000646991.2 exon2 c.C319T p.P107S exonic ENSG00000091010.6 . nonsynonymous SNV ENSG00000091010.6:ENST00000646991.2:exon2:c.C319T:p.P107S 5q32 C3N-01361 . . . . . . . . . 6.20 T T B B N D L D N 0.149 T T T 0.243 0.319 0.416 0.445 T T T T D D 1.847 18.080 0.911 D D -0.312 1.584 -0.140 1.937 1.000 0.549 0.627 0.608 0.621 . 4.630 4.630 6.033 1.025 0.598 1.000 1.000 0.949 877 . . . . POU4F3 270 0 218 127 0.368115942028986 TRUE TRUE +ENSG00000187987.9 . BCM GRCh38.p13 chr6 28435008 28435008 + A A - Frame_Shift_Del NA ENST00000289788.4 exon4 c.627delT p.I210Yfs*32 exonic ENSG00000187987.9 . frameshift deletion ENSG00000187987.9:ENST00000289788.4:exon4:c.627delT:p.I210Yfs*32 6p22.1 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSCAN23 99 0 89 25 0.219298245614035 TRUE TRUE +ENSG00000204511.3 . BCM GRCh38.p13 chr6 31529073 31529073 + C C T Missense_Mutation SNP ENST00000376191.3 exon1 c.C59T p.S20F exonic ENSG00000204511.3 . nonsynonymous SNV ENSG00000204511.3:ENST00000376191.3:exon1:c.C59T:p.S20F 6p21.33 C3N-01361 . . . . . . . . . 1.19 T T B B N N L T D 0.180 T T T 0.038 0.246 0.040 0.528 T T T T T . 1.631 16.580 0.778 N N -1.157 0.259 -1.185 0.296 1.000 0.680 0.573 0.601 0.711 . 3.420 0.508 0.948 0.030 -0.214 0.041 0.008 0.051 934 . . . ID=COSV66019755;OCCURENCE=1(urinary_tract) MCCD1 157 0 129 34 0.208588957055215 TRUE TRUE +ENSG00000079841.18 . BCM GRCh38.p13 chr6 72258166 72258166 + T T A Missense_Mutation SNP ENST00000521978.5 exon17 c.T2812A p.L938I exonic ENSG00000079841.18 . nonsynonymous SNV ENSG00000079841.18:ENST00000521978.5:exon17:c.T2812A:p.L938I 6q13 C3N-01361 . . . . . . . . . 11.20 D D D D D D M T N 0.674 T T D 0.197 0.161 0.587 0.650 T T T T D D 3.467 24.600 0.996 D N 0.220 3.391 0.173 3.056 0.003 0.638 0.574 0.653 0.613 . 5.190 4.040 1.553 0.202 -0.194 0.985 0.989 0.932 891 . . . . RIMS1 180 0 146 28 0.160919540229885 TRUE TRUE +ENSG00000107854.6 . BCM GRCh38.p13 chr10 91851301 91851301 + T T A Missense_Mutation SNP ENST00000371627.5 exon21 c.T2780A p.I927N exonic ENSG00000107854.6 . nonsynonymous SNV ENSG00000107854.6:ENST00000371627.5:exon21:c.T2780A:p.I927N 10q23.32 C3N-01361 . . . . . . . . . 20.20 D D D D D D M D D 0.880 D D D 0.926 0.695 0.852 1.730 D D D D D D 4.291 29.500 0.994 D D 0.780 8.398 0.757 8.965 1.000 0.732 0.744 0.744 0.714 . 5.310 5.310 8.017 1.134 0.661 1.000 1.000 0.998 902 Sterile_alpha_motif_domain . . . TNKS2 206 0 105 36 0.25531914893617 TRUE TRUE +ENSG00000070985.13 . BCM GRCh38.p13 chr11 2417764 2417764 + C C G Missense_Mutation SNP ENST00000155858.10 exon7 c.G972C p.E324D exonic ENSG00000070985.13 . nonsynonymous SNV ENSG00000070985.13:ENST00000155858.10:exon7:c.G972C:p.E324D 11p15.5 C3N-01361 . . . . . . . . . 1.20 T T P B N N L T N 0.220 T T T 0.020 0.307 0.030 0.087 T T T T T T 1.719 17.160 0.997 D N -0.212 1.843 -0.227 1.723 0.005 0.581 0.547 0.578 0.605 . 3.920 0.786 0.502 0.993 0.547 1.000 1.000 0.958 988 . . . . TRPM5 166 0 124 36 0.225 TRUE TRUE +ENSG00000133789.15 . BCM GRCh38.p13 chr11 9713532 9713532 + C C G Missense_Mutation SNP ENST00000318950.11 exon3 c.C307G p.L103V exonic ENSG00000133789.15 . nonsynonymous SNV ENSG00000133789.15:ENST00000318950.11:exon3:c.C307G:p.L103V 11p15.4 C3N-01361 . . . . . . . . . 5.20 T T B B D D L T N 0.376 T T T 0.112 0.376 0.225 0.373 T T T T D T 2.103 20.100 0.990 D D 0.114 2.942 0.292 3.670 1.000 0.732 0.744 0.710 0.728 . 5.650 5.650 3.590 1.016 0.587 1.000 1.000 0.997 573 . . . . SWAP70 96 0 108 12 0.1 TRUE TRUE +ENSG00000102452.17 . BCM GRCh38.p13 chr13 101143214 101143214 + A A C Missense_Mutation SNP ENST00000251127.11 exon17 c.T1984G p.F662V exonic ENSG00000102452.17 . nonsynonymous SNV ENSG00000102452.17:ENST00000251127.11:exon17:c.T1984G:p.F662V 13q33.1 C3N-01361 . . . . . . . . . 18.20 D D D D D D L D D 0.846 D D D 0.766 0.410 0.729 2.257 D D D D D T 4.167 28.300 0.992 D D 0.693 7.027 0.715 8.041 1.000 0.554 0.574 0.624 0.568 . 5.710 5.710 8.836 1.296 0.751 1.000 0.981 0.994 848 . . . . NALCN 60 0 60 18 0.230769230769231 TRUE TRUE +ENSG00000047346.12 . BCM GRCh38.p13 chr15 52609683 52609683 + C C A Missense_Mutation SNP ENST00000261844.11 exon6 c.G1231T p.V411F exonic ENSG00000047346.12 . nonsynonymous SNV ENSG00000047346.12:ENST00000261844.11:exon6:c.G1231T:p.V411F 15q21.3 C3N-01361 . . . . . . . . . 4.20 D D P B N N M T N 0.226 T T T 0.110 0.131 0.177 0.155 T T T T T D 1.618 16.490 0.995 N N -0.064 2.290 -0.080 2.104 0.994 0.707 0.725 0.602 0.714 . 5.430 4.280 1.917 1.026 0.599 0.022 0.603 0.607 333 . . . . FAM214A 173 0 139 21 0.13125 TRUE TRUE +ENSG00000184730.11 . BCM GRCh38.p13 chr16 28498108 28498108 + G G C Missense_Mutation SNP ENST00000564831.6 exon3 c.G2983C p.V995L exonic ENSG00000184730.11 . nonsynonymous SNV ENSG00000184730.11:ENST00000564831.6:exon3:c.G2983C:p.V995L 16p12.1 C3N-01361 . . . . . . . . . 3.19 D T D P . N L T N 0.337 T T D 0.188 0.258 0.778 0.049 T T T T T T 3.409 24.400 0.963 N N 0.127 2.996 0.087 2.682 1.000 0.554 0.588 0.578 0.613 . 4.630 3.640 1.780 1.175 0.675 0.957 0.586 0.722 678 . . . . APOBR 36 0 42 5 0.106382978723404 TRUE TRUE +ENSG00000040199.18 . BCM GRCh38.p13 chr16 71681814 71681814 + T T C Missense_Mutation SNP ENST00000568954.5 exon6 c.A827G p.Y276C exonic ENSG00000040199.18 . nonsynonymous SNV ENSG00000040199.18:ENST00000568954.5:exon6:c.A827G:p.Y276C 16q22.2 C3N-01361 0.0001 9.61e-05 0 0 0 0.0002 0 0 rs774406482 8.20 T D D D D D L T N 0.763 T T T 0.214 0.504 0.248 0.336 T T T T T D 3.608 25.100 0.998 D D 0.660 6.600 0.667 7.173 1.000 0.563 0.654 0.609 0.636 . 5.620 5.620 6.112 1.118 0.609 1.000 1.000 0.999 72 . . . . PHLPP2 130 0 117 26 0.181818181818182 TRUE NA +ENSG00000278540.5 . BCM GRCh38.p13 chr17 37244627 37244627 + C C T Missense_Mutation SNP ENST00000614428.4 exon21 c.G2592A p.M864I exonic ENSG00000278540.5 . nonsynonymous SNV ENSG00000278540.5:ENST00000614428.4:exon21:c.G2592A:p.M864I 17q12 C3N-01361 . . . . . . . . . 10.16 . D P P D D M . . 0.866 T T T 0.408 0.703 0.860 . D T D D D . 3.762 25.700 0.997 D D 0.458 4.726 0.520 5.350 1.000 0.707 0.654 0.725 0.714 . 4.960 4.960 7.905 1.026 0.549 1.000 0.994 0.979 662 Acetyl-CoA_carboxylase,_central_domain . . . ACACA 399 0 331 65 0.164141414141414 TRUE TRUE +ENSG00000160111.13 . BCM GRCh38.p13 chr19 16904551 16904551 + A A C Missense_Mutation SNP ENST00000443236.6 exon31 c.T4029G p.D1343E exonic ENSG00000160111.13 . nonsynonymous SNV ENSG00000160111.13:ENST00000443236.6:exon31:c.T4029G:p.D1343E 19p13.11 C3N-01361 . . . . . . . . . 1.14 . T . . U N . T . 0.173 T T T 0.044 . 0.426 0.137 T . T T T T 1.448 15.400 0.976 D N -0.084 2.227 -0.207 1.769 0.055 0.615 0.547 0.659 0.564 . 2.720 0.492 1.013 -0.378 -0.724 1.000 0.775 0.570 970 . . . . CPAMD8 146 0 132 33 0.2 TRUE TRUE +ENSG00000011422.12 . BCM GRCh38.p13 chr19 43665374 43665374 + C C G Missense_Mutation SNP ENST00000340093.8 exon3 c.G252C p.K84N exonic ENSG00000011422.12 . nonsynonymous SNV ENSG00000011422.12:ENST00000340093.8:exon3:c.G252C:p.K84N 19q13.31 C3N-01361 . . . . . . . . . 2.20 T T P B N N N T N 0.222 T T D 0.080 0.290 0.511 0.165 T T T T T T 2.219 21.000 0.979 D N -0.479 1.218 -0.500 1.202 0.461 0.722 0.616 0.607 0.735 . 3.840 1.680 1.226 1.018 0.537 0.979 0.618 0.231 895 Ly-6_antigen/uPA_receptor-like . . . PLAUR 274 0 251 36 0.125435540069686 TRUE TRUE +ENSG00000174306.21 . BCM GRCh38.p13 chr20 41202976 41202976 + A A C Missense_Mutation SNP ENST00000309060.7 exon4 c.T1941G p.S647R exonic ENSG00000174306.21 . nonsynonymous SNV ENSG00000174306.21:ENST00000309060.7:exon4:c.T1941G:p.S647R 20q12 C3N-01361 . . . . . . . . . 5.20 D T B B N D L D N 0.125 T T D 0.325 0.323 0.807 0.280 T T D T T T 1.365 14.840 0.997 N N -0.389 1.407 -0.362 1.443 0.001 0.732 0.709 0.602 0.728 . 6.060 1.130 -0.487 0.272 0.756 0.000 0.998 0.999 950 Homeobox_domain . . . ZHX3 191 0 128 38 0.228915662650602 TRUE TRUE +ENSG00000128191.16 . BCM GRCh38.p13 chr22 20086387 20086387 + C C T Missense_Mutation SNP ENST00000351989.8 exon2 c.C424T p.R142C exonic ENSG00000128191.16 . nonsynonymous SNV ENSG00000128191.16:ENST00000351989.8:exon2:c.C424T:p.R142C 22q11.21 C3N-01361 0.0006 0 0.0002 0 0 0 0 0.0041 rs547571792 3.19 T T B B N D N T N 0.163 T T T 0.040 0.356 0.123 0.653 T T T T T D 2.635 22.700 0.988 D . -0.230 1.794 0.011 2.397 1.000 0.707 0.725 0.702 0.711 . 5.420 5.420 2.265 1.026 0.549 1.000 0.623 0.968 534 . . . ID=COSV61226932;OCCURENCE=1(large_intestine),1(endometrium) DGCR8 259 0 154 34 0.180851063829787 TRUE TRUE +ENSG00000128283.7 . BCM GRCh38.p13 chr22 37566605 37566605 + C C A Missense_Mutation SNP ENST00000249014.5 exon2 c.C256A p.L86M exonic ENSG00000128283.7 . nonsynonymous SNV ENSG00000128283.7:ENST00000249014.5:exon2:c.C256A:p.L86M 22q13.1 C3N-01361 . . . . . . . . . 7.20 T T D D D D L T N 0.364 T T T 0.109 0.512 0.538 0.296 T T T T D T 3.467 24.600 0.981 D D 0.523 5.219 0.524 5.389 1.000 0.722 0.617 0.571 0.735 . 5.220 5.220 1.876 1.016 0.587 0.977 0.990 0.985 952 . . . . CDC42EP1 49 0 57 3 0.05 TRUE NA +ENSG00000008056.14 . BCM GRCh38.p13 chrX 47605246 47605246 + T T A Missense_Mutation SNP ENST00000295987.13 exon4 c.A661T p.N221Y exonic ENSG00000008056.14 . nonsynonymous SNV ENSG00000008056.14:ENST00000295987.13:exon4:c.A661T:p.N221Y Xp11.23 C3N-01361 . . . . . . . . . 16.19 D D D D D D M T D 0.832 T T D 0.687 0.720 0.773 1.869 D D D D D D 3.854 26.100 0.995 D . . . . . 1.000 . . . . . 5.300 5.300 7.816 1.138 0.609 1.000 1.000 0.999 579 Synapsin,_ATP-binding_domain . . . SYN1 227 0 172 101 0.36996336996337 TRUE TRUE +ENSG00000138829.12 . BCM GRCh38.p13 chr5 128273839 128273839 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000138829.12 ENST00000262464.9:exon61:c.7840+1G>A . . 5q23.3 C3N-01361 8.267e-06 9.617e-05 0 0 0 0 0 0 rs746742193 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.054 33 0.991 D . 1.042 15.304 0.838 11.353 1.000 0.164 0.063 0.175 0.243 0.982 4.910 4.910 7.905 1.026 0.599 1.000 0.922 0.422 743 . . . . FBN2 418 0 518 69 0.117546848381601 TRUE NA +ENSG00000137601.17 . BCM GRCh38.p13 chr4 169438159 169438159 + A A G Silent SNP ENST00000439128.6 exon26 c.T2604C p.S868S exonic ENSG00000137601.17 . synonymous SNV ENSG00000137601.17:ENST00000439128.6:exon26:c.T2604C:p.S868S 4q33 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEK1 212 0 147 40 0.213903743315508 TRUE TRUE +ENSG00000136244.12 . BCM GRCh38.p13 chr7 22727601 22727601 + C C T Silent SNP ENST00000404625.5 exon3 c.C177T p.Y59Y exonic ENSG00000136244.12 . synonymous SNV ENSG00000136244.12:ENST00000404625.5:exon3:c.C177T:p.Y59Y 7p15.3 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL6 42 0 36 9 0.2 TRUE TRUE +ENSG00000123297.20 . BCM GRCh38.p13 chr12 57796316 57796316 + G G A Silent SNP ENST00000652027.2 exon6 c.G711A p.L237L exonic ENSG00000123297.20 . synonymous SNV ENSG00000123297.20:ENST00000652027.2:exon6:c.G711A:p.L237L 12q14.1 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSFM 231 0 205 33 0.138655462184874 TRUE TRUE +ENSG00000087303.18 . BCM GRCh38.p13 chr14 52011007 52011007 + G G A Silent SNP ENST00000216286.10 exon18 c.C3591T p.R1197R exonic ENSG00000087303.18 . synonymous SNV ENSG00000087303.18:ENST00000216286.10:exon18:c.C3591T:p.R1197R 14q22.1 C3N-01361 8.237e-06 0 0 0 0 1.499e-05 0 0 rs367692141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NID2 161 0 164 38 0.188118811881188 TRUE NA +ENSG00000067369.14 . BCM GRCh38.p13 chr15 43408989 43408989 + G G A Silent SNP ENST00000263801.7 exon26 c.C5493T p.V1831V exonic ENSG00000067369.14 . synonymous SNV ENSG00000067369.14:ENST00000263801.7:exon26:c.C5493T:p.V1831V 15q15.3 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53BP1 379 0 301 71 0.190860215053763 TRUE TRUE +ENSG00000081913.14 . BCM GRCh38.p13 chr18 62716343 62716343 + C C T Silent SNP ENST00000262719.10 exon1 c.C660T p.L220L exonic ENSG00000081913.14 . synonymous SNV ENSG00000081913.14:ENST00000262719.10:exon1:c.C660T:p.L220L 18q21.33 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHLPP1 168 0 133 25 0.158227848101266 TRUE TRUE +ENSG00000186376.15 . BCM GRCh38.p13 chrX 135291025 135291025 + C C T Silent SNP ENST00000370766.8 exon6 c.G807A p.E269E exonic ENSG00000186376.15 . synonymous SNV ENSG00000186376.15:ENST00000370766.8:exon6:c.G807A:p.E269E Xq26.3 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF75D 50 0 29 17 0.369565217391304 TRUE TRUE +ENSG00000251283.1 . BCM GRCh38.p13 chr4 156634817 156634817 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251283.1 . . . 4q32.1 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02272 168 0 113 28 0.198581560283688 TRUE NA +ENSG00000213005.3 . BCM GRCh38.p13 chr8 66767627 66767627 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000213005.3 . . . 8q13.1 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTTG3P 254 0 239 47 0.164335664335664 TRUE NA +ENSG00000005379.17 . BCM GRCh38.p13 chr17 58305213 58305213 + C C A Intron SNP NA NA NA NA intronic ENSG00000005379.17 . . . 17q22 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPOAP1 141 0 127 34 0.211180124223602 TRUE NA +ENSG00000181072.11 . BCM GRCh38.p13 chr7 137016074 137016076 + CAA CAA AAT Unknown MNP ENST00000445907.6 exon3 c.1209_1211delinsAAT p.Y403_R466del exonic ENSG00000181072.11 . stopgain ENSG00000181072.11:ENST00000445907.6:exon3:c.1209_1211delinsAAT:p.Y403_R466del 7q33 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHRM2 77 0 68 14 0.170731707317073 TRUE NA +ENSG00000185972.6 . BCM GRCh38.p13 chr9 36170047 36170048 + GC GC AG Unknown MNP ENST00000335119.4 exon1 c.545_546delinsAG p.R182Q exonic ENSG00000185972.6 . nonframeshift substitution ENSG00000185972.6:ENST00000335119.4:exon1:c.545_546delinsAG:p.R182Q 9p13.3 C3N-01361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCIN 232 0 107 28 0.207407407407407 TRUE NA +ENSG00000049246.14 . BCM GRCh38.p13 chr1 7827248 7827248 + G G - Frame_Shift_Del DEL ENST00000361923.2 exon17 c.2295delG p.N766Tfs*83 exonic ENSG00000049246.14 . frameshift deletion ENSG00000049246.14:ENST00000361923.2:exon17:c.2295delG:p.N766Tfs*83 1p36.23 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PER3 196 0 116 51 0.305389221556886 TRUE TRUE +ENSG00000158006.14 . BCM GRCh38.p13 chr1 25982446 25982446 + A A G Missense_Mutation SNP ENST00000374282.8 exon7 c.T584C p.V195A exonic ENSG00000158006.14 . nonsynonymous SNV ENSG00000158006.14:ENST00000374282.8:exon7:c.T584C:p.V195A 1p36.11 C3N-01522 . . . . . . . . . 2.20 T T P B D N N T N 0.400 T T T 0.201 0.546 0.165 0.082 T T T T D T 1.329 14.590 0.106 N N -0.465 1.247 -0.419 1.339 0.996 0.707 0.616 0.725 0.636 . 5.760 5.760 1.814 1.312 0.756 0.137 0.202 0.082 688 . . . . PAFAH2 217 0 149 61 0.29047619047619 TRUE TRUE +ENSG00000117226.12 . BCM GRCh38.p13 chr1 89013247 89013247 + G G A Missense_Mutation SNP ENST00000370481.9 exon6 c.C806T p.S269F exonic ENSG00000117226.12 . nonsynonymous SNV ENSG00000117226.12:ENST00000370481.9:exon6:c.C806T:p.S269F 1p22.2 C3N-01522 . . . . . . . . . 6.20 D D P P N N M T D 0.299 T T T 0.415 0.736 0.899 0.124 T T T T D D 2.018 19.390 0.997 N N 0.175 3.193 0.055 2.559 0.299 0.563 0.654 0.574 0.636 . 3.850 2.930 1.256 0.199 -0.153 0.026 0.811 0.180 706 GB1/RHD3-type_guanine_nucleotide-binding_(G)_domain;Guanylate-binding_protein,_N-terminal . . ID=COSV52519257;OCCURENCE=1(kidney) GBP3 330 0 196 122 0.383647798742138 NA TRUE +ENSG00000203730.3 . BCM GRCh38.p13 chr1 182399667 182399667 + G G - Nonstop_Mutation SNP ENST00000367565.2 exon1 c.819delC p.*274delinsETGPTVAGTSSTSSSSCWLLSHEHGTLLGKGNGLEG* exonic ENSG00000203730.3 . stoploss ENSG00000203730.3:ENST00000367565.2:exon1:c.819delC:p.*274delinsETGPTVAGTSSTSSSSCWLLSHEHGTLLGKGNGLEG* 1q25.3 C3N-01522 1.665e-05 0.0002 0 0 0 0 0 0 rs759664603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TEDDM1 145 0 86 46 0.348484848484849 TRUE NA +ENSG00000143674.11 . BCM GRCh38.p13 chr1 233353925 233353925 + T T A Missense_Mutation SNP ENST00000366624.8 exon3 c.T1105A p.C369S exonic ENSG00000143674.11 . nonsynonymous SNV ENSG00000143674.11:ENST00000366624.8:exon3:c.T1105A:p.C369S 1q42.2 C3N-01522 . . . . . . . . . 19.19 D D D D D D . D D 0.925 D D D 0.916 0.636 0.695 1.962 D D D D D D 3.912 26.400 0.996 D D 0.685 6.910 0.668 7.196 1.000 0.706 0.588 0.710 0.568 . 4.910 4.910 8.011 1.138 0.665 1.000 1.000 0.981 893 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . MAP3K21 103 0 105 7 0.0625 TRUE TRUE +ENSG00000143653.10 . BCM GRCh38.p13 chr1 246724529 246724529 + G G T Missense_Mutation SNP ENST00000366510.4 exon1 c.G107T p.R36L exonic ENSG00000143653.10 . nonsynonymous SNV ENSG00000143653.10:ENST00000366510.4:exon1:c.G107T:p.R36L 1q44 C3N-01522 . . . . . . . . . 2.20 T T B B N N L T N 0.038 T T D 0.095 0.566 0.392 1.543 T T T T T T 2.057 19.690 0.978 D N -0.356 1.482 -0.229 1.718 1.000 0.442 0.522 0.504 0.373 . 5.420 1.250 0.001 0.113 -0.280 0.004 0.996 0.961 829 Saccharopine_dehydrogenase,_NADP_binding_domain . . . SCCPDH 191 0 101 61 0.376543209876543 TRUE TRUE +ENSG00000134318.14 . BCM GRCh38.p13 chr2 11197629 11197629 + T T G Missense_Mutation SNP ENST00000315872.11 exon26 c.A3176C p.K1059T exonic ENSG00000134318.14 . nonsynonymous SNV ENSG00000134318.14:ENST00000315872.11:exon26:c.A3176C:p.K1059T 2p25.1 C3N-01522 . . . . . . . . . 14.20 D D D D D D M T D 0.489 T T D 0.193 0.200 0.677 2.229 T T D T D D 4.072 27.500 0.998 D D 0.681 6.860 0.652 6.944 0.996 0.732 0.725 0.744 0.728 . 5.520 5.520 4.203 1.138 0.660 1.000 1.000 0.998 950 . . . . ROCK2 84 0 100 35 0.259259259259259 TRUE TRUE +ENSG00000115616.3 . BCM GRCh38.p13 chr2 102620136 102620136 + T T G Missense_Mutation SNP ENST00000233969.3 exon1 c.T288G p.I96M exonic ENSG00000115616.3 . nonsynonymous SNV ENSG00000115616.3:ENST00000233969.3:exon1:c.T288G:p.I96M 2q12.1 C3N-01522 . . . . . . . . . 10.20 D D D D D D M T N 0.394 T T D 0.412 0.730 0.473 0.977 T T T T D D 1.234 13.900 0.988 N N -0.752 0.728 -1.004 0.483 1.000 0.598 0.596 0.607 0.555 . 5.320 -7.240 -3.497 -2.308 -1.888 0.000 0.464 0.462 705 Cation/H+_exchanger . . . SLC9A2 81 1 50 31 0.382716049382716 TRUE TRUE +ENSG00000183091.19 . BCM GRCh38.p13 chr2 151671181 151671181 + T T A Missense_Mutation SNP ENST00000172853.14 exon38 c.A4348T p.I1450F exonic ENSG00000183091.19 . nonsynonymous SNV ENSG00000183091.19:ENST00000172853.14:exon38:c.A4348T:p.I1450F 2q23.3 C3N-01522 . . . . . . . . . 8.20 D D P P D D M T N 0.771 T T T 0.169 0.462 0.440 0.299 T T T T D T 2.515 22.500 0.989 D D 0.476 4.854 0.484 5.016 1.000 0.603 0.627 0.527 0.663 . 5.420 5.420 1.519 1.138 0.665 1.000 1.000 0.999 857 . . . . NEB 251 0 142 82 0.366071428571429 TRUE TRUE +ENSG00000185038.14 . BCM GRCh38.p13 chr2 233809136 233809136 + C C G Missense_Mutation SNP ENST00000389758.3 exon22 c.C2306G p.P769R exonic ENSG00000185038.14 . nonsynonymous SNV ENSG00000185038.14:ENST00000389758.3:exon22:c.C2306G:p.P769R 2q37.1 C3N-01522 . . . . . . . . rs1025990760 5.16 T D . . N D . T D 0.315 T T T 0.084 0.377 0.215 0.000 . T T T D T 3.187 23.800 0.998 D N 0.299 3.776 0.379 4.211 0.975 0.497 0.563 0.547 0.542 . 5.700 5.700 1.522 0.950 0.580 0.998 0.999 0.995 845 . . . . MROH2A 133 0 96 53 0.355704697986577 TRUE NA +ENSG00000168427.9 . BCM GRCh38.p13 chr2 238150915 238150915 + C C A Nonsense_Mutation SNP ENST00000409223.2 exon8 c.C1587A p.Y529X exonic ENSG00000168427.9 . stopgain ENSG00000168427.9:ENST00000409223.2:exon8:c.C1587A:p.Y529X 2q37.3 C3N-01522 . . . . . . . . . 5.6 . . . . D D . . . 0.165 . . . . . . . . . D D . . 8.009 40 0.997 D N 0.665 6.656 0.511 5.260 1.000 0.554 0.588 0.578 0.563 . 4.660 4.660 0.474 0.121 -0.193 0.666 0.963 0.901 969 . . . . KLHL30 512 0 257 116 0.310991957104558 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47123749 47123749 + G G - Frame_Shift_Del DEL ENST00000409792.3 exon3 c.887delC p.S296Lfs*5 exonic ENSG00000181555.20 . frameshift deletion ENSG00000181555.20:ENST00000409792.3:exon3:c.887delC:p.S296Lfs*5 3p21.31 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETD2 21 0 12 20 0.625 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52651783 52651783 + T T A Nonsense_Mutation SNP ENST00000296302.11 exon6 c.A673T p.K225X exonic ENSG00000163939.18 . stopgain ENSG00000163939.18:ENST00000296302.11:exon6:c.A673T:p.K225X 3p21.1 C3N-01522 . . . . . . . . . 5.6 . . . . D A . . . 0.863 . . . . . . . . . D D . . 7.427 38 0.996 D N 0.899 11.021 0.782 9.620 1.000 0.732 0.725 0.744 0.734 . 5.450 5.450 7.429 1.134 0.661 1.000 0.999 0.979 28 Bromodomain,_conserved_site;Bromodomain . . . PBRM1 27 0 29 28 0.491228070175439 TRUE TRUE +ENSG00000070476.15 . BCM GRCh38.p13 chr3 126438406 126438406 + C C - Frame_Shift_Del DEL ENST00000389709.8 exon10 c.2546delG p.G849Efs*24 exonic ENSG00000070476.15 . frameshift deletion ENSG00000070476.15:ENST00000389709.8:exon10:c.2546delG:p.G849Efs*24 3q21.3 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZXDC 283 0 180 91 0.335793357933579 TRUE TRUE +ENSG00000144868.13 . BCM GRCh38.p13 chr3 133379877 133379877 + A A G Missense_Mutation SNP ENST00000321871.10 exon4 c.A166G p.S56G exonic ENSG00000144868.13 . nonsynonymous SNV ENSG00000144868.13:ENST00000321871.10:exon4:c.A166G:p.S56G 3q22.1 C3N-01522 . . . . . . . . . 8.20 D D D D N D L T D 0.098 T T D 0.131 0.293 0.257 0.250 T T T T D T 1.510 15.800 0.997 N N 0.058 2.723 -0.059 2.167 1.000 0.706 0.660 0.710 0.542 . 3.800 3.800 1.942 1.207 0.754 0.172 0.805 0.718 482 . . . . TMEM108 179 0 134 61 0.312820512820513 TRUE NA +ENSG00000172403.11 . BCM GRCh38.p13 chr4 119026730 119026730 + C C T Nonsense_Mutation SNP ENST00000429713.7 exon3 c.C361T p.R121X exonic ENSG00000172403.11 . stopgain ENSG00000172403.11:ENST00000429713.7:exon3:c.C361T:p.R121X 4q26 C3N-01522 . . . . . . . . . 4.7 . . . . N A . . . 0.682 . . . . . . . . . D D D . 5.829 35 0.998 N N 0.748 7.841 0.523 5.372 1.000 0.615 0.574 0.659 0.542 . 5.540 3.550 0.987 0.123 0.549 0.002 0.344 0.986 576 . . . ID=COSV61113779;OCCURENCE=1(large_intestine),1(endometrium) SYNPO2 144 0 96 18 0.157894736842105 TRUE TRUE +ENSG00000113593.12 . BCM GRCh38.p13 chr5 65569669 65569669 + G G T Missense_Mutation SNP ENST00000261308.10 exon3 c.G337T p.V113F exonic ENSG00000113593.12 . nonsynonymous SNV ENSG00000113593.12:ENST00000261308.10:exon3:c.G337T:p.V113F 5q12.3 C3N-01522 . . . . . . . . . 13.20 D D P P D D M T D 0.872 D T D 0.600 0.497 0.792 1.023 T T D D D D 3.464 24.600 0.970 D N 0.506 5.084 0.533 5.470 1.000 0.732 0.744 0.710 0.728 . 5.530 4.650 4.921 1.176 0.676 1.000 1.000 1.000 811 WD40-repeat-containing_domain . . . PPWD1 9 0 26 13 0.333333333333333 TRUE TRUE +ENSG00000134982.17 . BCM GRCh38.p13 chr5 112838797 112838797 + C C T Missense_Mutation SNP ENST00000257430.9 exon16 c.C3203T p.S1068L exonic ENSG00000134982.17 . nonsynonymous SNV ENSG00000134982.17:ENST00000257430.9:exon16:c.C3203T:p.S1068L 5q22.2 C3N-01522 . . . . . . . . . 7.20 D T B B N N N D N 0.404 T D D 0.343 0.123 0.856 . T T D T T D 2.092 19.950 0.992 D N -0.085 2.221 0.125 2.839 0.997 0.563 0.654 0.609 0.636 . 5.610 5.610 4.592 1.026 0.599 0.997 0.986 0.875 611 . . . . APC 329 0 261 108 0.292682926829268 TRUE TRUE +ENSG00000181904.9 . BCM GRCh38.p13 chr5 134855264 134855264 + C C - Frame_Shift_Del DEL ENST00000394976.4 exon2 c.364delC p.P122Qfs*46 exonic ENSG00000181904.9 . frameshift deletion ENSG00000181904.9:ENST00000394976.4:exon2:c.364delC:p.P122Qfs*46 5q31.1 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C5orf24 515 0 311 160 0.339702760084926 TRUE TRUE +ENSG00000165671.20 . BCM GRCh38.p13 chr5 177210603 177210603 + C C A Missense_Mutation SNP ENST00000439151.6 exon5 c.C2204A p.A735E exonic ENSG00000165671.20 . nonsynonymous SNV ENSG00000165671.20:ENST00000439151.6:exon5:c.C2204A:p.A735E 5q35.3 C3N-01522 . . . . . . . . . 3.20 D T B B N N N D N 0.194 T T D 0.203 0.086 0.139 0.062 T T T T T T 1.130 13.050 0.727 N N -1.043 0.360 -0.999 0.490 0.099 0.707 0.725 0.702 0.714 . 5.100 2.250 1.015 0.045 -0.313 0.524 0.005 0.017 917 . . . . NSD1 485 2 328 125 0.275938189845475 TRUE TRUE +ENSG00000131459.13 . BCM GRCh38.p13 chr5 180313960 180313960 + C C G Missense_Mutation SNP ENST00000253778.13 exon14 c.G1278C p.E426D exonic ENSG00000131459.13 . nonsynonymous SNV ENSG00000131459.13:ENST00000253778.13:exon14:c.G1278C:p.E426D 5q35.3 C3N-01522 . . . . . . . . . 18.20 D D D P D D H T D 0.833 D D D 0.521 0.870 0.831 1.081 D D D D D D 3.321 24.200 0.997 D D 0.586 5.784 0.422 4.517 1.000 0.672 0.551 0.702 0.373 . 5.500 3.690 2.539 1.018 0.599 1.000 0.619 0.087 970 Sugar_isomerase_(SIS);GlmS/AgaS,_SIS_domain_1 . . . GFPT2 197 0 108 41 0.275167785234899 TRUE TRUE +ENSG00000112685.14 . BCM GRCh38.p13 chr6 637769 637769 + T T G Missense_Mutation SNP ENST00000230449.9 exon2 c.A50C p.E17A exonic ENSG00000112685.14 . nonsynonymous SNV ENSG00000112685.14:ENST00000230449.9:exon2:c.A50C:p.E17A 6p25.3 C3N-01522 . . . . . . . . . 15.20 D D D D D D L T D 0.839 T T D 0.720 0.435 0.859 3.141 T D D D D D 4.315 29.700 0.997 D D 0.692 7.014 0.680 7.391 1.000 0.732 0.699 0.710 0.728 . 5.290 5.290 7.367 1.138 0.665 1.000 0.999 0.993 874 IPT_domain . . . EXOC2 172 0 95 46 0.326241134751773 TRUE TRUE +ENSG00000146070.17 . BCM GRCh38.p13 chr6 46714548 46714548 + T T C Missense_Mutation SNP ENST00000274793.12 exon5 c.A382G p.M128V exonic ENSG00000146070.17 . nonsynonymous SNV ENSG00000146070.17:ENST00000274793.12:exon5:c.A382G:p.M128V 6p12.3 C3N-01522 . . . . . . . . rs928438839 1.20 T T B B N D N T N 0.204 T T T 0.096 0.389 0.107 0.005 T T T T T T -1.202 0.002 0.121 N N -2.401 0.001 -2.430 0.001 1.000 0.638 0.574 0.653 0.564 . 6.060 -12.100 0.034 -1.949 -1.684 0.083 0.128 0.071 614 . . . . PLA2G7 351 0 285 112 0.282115869017632 TRUE NA +ENSG00000153292.16 . BCM GRCh38.p13 chr6 47024188 47024188 + A A G Missense_Mutation SNP ENST00000371253.7 exon5 c.T307C p.C103R exonic ENSG00000153292.16 . nonsynonymous SNV ENSG00000153292.16:ENST00000371253.7:exon5:c.T307C:p.C103R 6p12.3 C3N-01522 . . . . . . . . . 13.19 D D D D D D . T D 0.983 T T D 0.679 0.831 0.671 0.418 T T D D D T 3.841 26.000 0.993 D D 0.543 5.385 0.471 4.904 0.951 0.497 0.555 0.547 0.542 . 5.510 5.510 4.258 1.312 0.756 0.994 0.792 0.302 808 . . . . ADGRF1 165 0 113 59 0.343023255813953 TRUE TRUE +ENSG00000078053.17 . BCM GRCh38.p13 chr7 38461368 38461368 + G G - Frame_Shift_Del DEL ENST00000356264.7 exon11 c.932delC p.P311Rfs*24 exonic ENSG00000078053.17 . frameshift deletion ENSG00000078053.17:ENST00000356264.7:exon11:c.932delC:p.P311Rfs*24 7p14.1 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMPH 277 0 171 78 0.313253012048193 TRUE TRUE +ENSG00000002746.15 . BCM GRCh38.p13 chr7 43509039 43509039 + G G T Nonsense_Mutation SNP ENST00000395891.7 exon24 c.G3937T p.G1313X exonic ENSG00000002746.15 . stopgain ENSG00000002746.15:ENST00000395891.7:exon24:c.G3937T:p.G1313X 7p13 C3N-01522 . . . . . . . . . 5.6 . . . . D A . . . 0.430 . . . . . . . . . D D . . 9.170 48 0.994 D N 1.277 34.108 1.152 34.723 1.000 0.638 0.588 0.653 0.542 . 5.920 5.920 9.968 1.176 0.676 1.000 1.000 0.997 764 HECT_domain . . ID=COSV67835255;OCCURENCE=1(lung) HECW1 211 1 140 75 0.348837209302326 TRUE TRUE +ENSG00000127412.7 . BCM GRCh38.p13 chr7 142912678 142912678 + A A T Missense_Mutation SNP ENST00000265310.6 exon13 c.T1592A p.F531Y exonic ENSG00000127412.7 . nonsynonymous SNV ENSG00000127412.7:ENST00000265310.6:exon13:c.T1592A:p.F531Y 7q34 C3N-01522 . . . . . . . . . 12.16 T T . . D D . D N 0.433 D D D 0.646 0.570 0.825 0.272 T D D D D . 3.415 24.400 0.992 D D 0.722 7.445 0.722 8.194 1.000 0.570 0.590 0.658 0.542 . 5.790 5.790 7.319 1.312 0.756 1.000 0.984 0.963 695 Ion_transport_domain . . . TRPV5 275 0 174 79 0.312252964426877 TRUE TRUE +ENSG00000226807.6 . BCM GRCh38.p13 chr8 141470674 141470674 + G G A Nonsense_Mutation SNP ENST00000621837.1 exon17 c.C2095T p.Q699X exonic ENSG00000226807.6 . stopgain ENSG00000226807.6:ENST00000621837.1:exon17:c.C2095T:p.Q699X 8q24.3 C3N-01522 . . . . . . . . . 3.4 . . . . . . . . . 0.153 . . . . . . . . . D D . . 8.006 40 0.991 D N . . . . 0.000 0.554 0.547 0.602 0.634 . 1.980 1.070 3.533 1.080 0.588 0.993 0.209 0.011 883 . . . . MROH5 146 0 95 50 0.344827586206897 TRUE NA +ENSG00000187616.5 . BCM GRCh38.p13 chr9 133515498 133515498 + A A C Missense_Mutation SNP ENST00000339996.4 exon4 c.T509G p.F170C exonic ENSG00000187616.5 . nonsynonymous SNV ENSG00000187616.5:ENST00000339996.4:exon4:c.T509G:p.F170C 9q34.2 C3N-01522 . . . . . . . . . 10.19 D D D P N D . T D 0.477 T T D 0.227 0.500 0.575 1.209 T T T T D D 4.050 27.300 0.988 D D 0.294 3.749 0.257 3.475 0.998 0.487 0.563 0.547 0.564 . 4.250 3.000 4.057 1.312 0.691 1.000 0.997 0.848 743 . . . . MYMK 154 1 104 34 0.246376811594203 TRUE TRUE +ENSG00000095596.12 . BCM GRCh38.p13 chr10 93075902 93075902 + C C T Missense_Mutation SNP ENST00000224356.5 exon5 c.C941T p.T314I exonic ENSG00000095596.12 . nonsynonymous SNV ENSG00000095596.12:ENST00000224356.5:exon5:c.C941T:p.T314I 10q23.33 C3N-01522 8.243e-06 0 8.651e-05 0 0 0 0 0 rs754813478 4.20 T T B B D D N T N 0.421 T T T 0.083 0.550 0.851 0.211 T T T T D T 2.394 22.100 0.998 D N -0.091 2.204 0.125 2.839 1.000 0.767 0.541 0.851 0.621 . 5.250 5.250 3.337 1.026 0.599 1.000 0.998 0.996 776 . . . . CYP26A1 225 0 100 46 0.315068493150685 TRUE NA +ENSG00000283787.1 . BCM GRCh38.p13 chr11 1890521 1890521 + C C A Nonsense_Mutation SNP ENST00000640310.1 exon1 c.G64T p.G22X exonic ENSG00000283787.1 . stopgain ENSG00000283787.1:ENST00000640310.1:exon1:c.G64T:p.G22X 11p15.5 C3N-01522 . . . . . . . . . 2.5 . . . . . N . . . . . . . . . . . . . D D . . 6.367 35 0.983 N N 0.009 2.543 -0.398 1.377 1.000 0.635 0.644 0.576 0.563 . 3.640 -0.584 0.254 0.910 0.537 0.002 0.059 0.024 982 . . . . PRR33 247 0 141 87 0.381578947368421 TRUE NA +ENSG00000181616.9 . BCM GRCh38.p13 chr11 5545083 5545083 + C C G Missense_Mutation SNP ENST00000641796.1 exon1 c.G441C p.K147N exonic ENSG00000181616.9 . nonsynonymous SNV ENSG00000181616.9:ENST00000641796.1:exon1:c.G441C:p.K147N 11p15.4 C3N-01522 . . . . . . . . . 0.16 . . B B N N L . . . T T T 0.024 0.285 0.150 0.021 T T T T T T 0.309 4.397 0.979 N N -0.980 0.426 -1.015 0.471 0.005 0.554 0.588 0.574 0.564 . 5.550 -2.060 -6.579 -0.334 -0.323 0.000 0.899 0.946 706 GPCR,_rhodopsin-like,_7TM . . . OR52H1 233 0 165 98 0.372623574144487 TRUE TRUE +ENSG00000175216.15 . BCM GRCh38.p13 chr11 46778168 46778168 + C C A Missense_Mutation SNP ENST00000529230.6 exon22 c.G2719T p.G907C exonic ENSG00000175216.15 . nonsynonymous SNV ENSG00000175216.15:ENST00000529230.6:exon22:c.G2719T:p.G907C 11p11.2 C3N-01522 . . . . . . . . . 8.20 D T P P D D M T N 0.318 T T T 0.138 0.492 0.489 0.290 T T T T D D 3.225 23.900 0.996 D D 0.529 5.267 0.571 5.875 0.998 0.707 0.725 0.725 0.711 . 5.780 5.780 2.093 0.129 0.599 0.998 0.998 1.000 12 CLASP_N-terminal_domain;TOG_domain . . . CKAP5 73 1 50 27 0.350649350649351 TRUE TRUE +ENSG00000174957.1 . BCM GRCh38.p13 chr11 56176948 56176948 + G G T Nonsense_Mutation SNP ENST00000312298.1 exon1 c.G331T p.E111X exonic ENSG00000174957.1 . stopgain ENSG00000174957.1:ENST00000312298.1:exon1:c.G331T:p.E111X 11q12.1 C3N-01522 . . . . . . . . . 4.6 . . . . D D . . . 0.009 . . . . . . . . . D D . . 5.429 34 0.995 N N 0.583 5.754 0.306 3.753 0.000 0.487 0.574 0.658 0.564 . 4.670 4.670 1.088 0.041 -0.165 0.004 0.001 0.001 161 GPCR,_rhodopsin-like,_7TM . . ID=COSV100399225;OCCURENCE=1(stomach) OR5J2 233 1 146 87 0.373390557939914 TRUE TRUE +ENSG00000197891.12 . BCM GRCh38.p13 chr11 64598897 64598897 + C C - Frame_Shift_Del DEL ENST00000377574.6 exon6 c.1044delC p.R349Gfs*52 exonic ENSG00000197891.12 . frameshift deletion ENSG00000197891.12:ENST00000377574.6:exon6:c.1044delC:p.R349Gfs*52 11q13.1 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC22A12 544 0 286 134 0.319047619047619 TRUE TRUE +ENSG00000168066.20 . BCM GRCh38.p13 chr11 64767660 64767660 + T T C Missense_Mutation SNP ENST00000377390.7 exon10 c.A1253G p.N418S exonic ENSG00000168066.20 . nonsynonymous SNV ENSG00000168066.20:ENST00000377390.7:exon10:c.A1253G:p.N418S 11q13.1 C3N-01522 4.153e-05 0 0 0.0002 0 3.021e-05 0.0011 0 rs779002649 7.20 D T P B D D L T D 0.571 T T T 0.175 . 0.674 0.392 T T T T T D 2.413 22.100 0.896 D D 0.046 2.677 0.214 3.250 1.000 0.675 0.672 0.672 0.684 . 5.820 5.820 5.337 1.138 0.665 1.000 0.996 0.995 404 . . . . SF1 119 0 65 31 0.322916666666667 TRUE NA +ENSG00000168060.16 . BCM GRCh38.p13 chr11 65045319 65045320 + TG TG - Frame_Shift_Del DEL ENST00000358658.8 exon18 c.2174_2175del p.T725Sfs*14 exonic ENSG00000168060.16 . frameshift deletion ENSG00000168060.16:ENST00000358658.8:exon18:c.2174_2175del:p.T725Sfs*14 11q13.1 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAALADL1 161 0 88 38 0.301587301587302 TRUE TRUE +ENSG00000173914.12 . BCM GRCh38.p13 chr11 66676730 66676730 + - NA A Frame_Shift_Ins NA ENST00000310046.9 exon2 c.349_350insT p.H117Lfs*16 exonic ENSG00000173914.12 . frameshift insertion ENSG00000173914.12:ENST00000310046.9:exon2:c.349_350insT:p.H117Lfs*16 11q13.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM4B NA NA NA NA NA NA NA +ENSG00000173898.13 . BCM GRCh38.p13 chr11 66688200 66688200 + C C T Missense_Mutation SNP ENST00000533211.5 exon32 c.G6343A p.G2115S exonic ENSG00000173898.13 . nonsynonymous SNV ENSG00000173898.13:ENST00000533211.5:exon32:c.G6343A:p.G2115S 11q13.2 C3N-01522 4.17e-05 9.794e-05 0.0002 0 0 3.025e-05 0 0 rs200435710 1.20 T T B B N N N T N 0.153 T T D 0.043 0.105 0.287 0.405 T T T T T T -0.091 0.865 0.355 N N -1.359 0.135 -1.304 0.206 0.997 0.707 0.588 0.725 0.655 . 5.520 0.099 -0.730 -0.240 -0.193 0.000 0.003 0.022 216 . . . . SPTBN2 685 1 417 223 0.3484375 TRUE NA +ENSG00000149380.12 . BCM GRCh38.p13 chr11 74277067 74277067 + A A G Missense_Mutation SNP ENST00000331597.9 exon9 c.T1253C p.V418A exonic ENSG00000149380.12 . nonsynonymous SNV ENSG00000149380.12:ENST00000331597.9:exon9:c.T1253C:p.V418A 11q13.4 C3N-01522 0.0002 0 0 0 0.0036 1.5e-05 0.0011 0 rs200145210 5.20 D T B B D D L T N 0.413 T T T 0.151 0.655 0.561 0.077 T T T T T T 2.605 22.600 0.991 D D 0.100 2.887 0.258 3.484 1.000 0.707 0.563 0.555 0.714 . 5.200 5.200 5.212 1.312 0.756 1.000 1.000 0.998 619 Prolyl_4-hydroxylase,_alpha_subunit . . . P4HA3 219 0 159 56 0.26046511627907 TRUE NA +ENSG00000223417.8 . BCM GRCh38.p13 chr11 89911919 89911919 + A A - Frame_Shift_Del DEL ENST00000530311.6 exon8 c.1027delT p.W343Gfs*67 exonic ENSG00000223417.8 . frameshift deletion ENSG00000223417.8:ENST00000530311.6:exon8:c.1027delT:p.W343Gfs*67 11q14.3 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM49D1 61 0 38 14 0.269230769230769 NA TRUE +ENSG00000139155.8 . BCM GRCh38.p13 chr12 20750764 20750764 + T T G Missense_Mutation SNP ENST00000266509.6 exon14 c.T1888G p.C630G exonic ENSG00000139155.8 . nonsynonymous SNV ENSG00000139155.8:ENST00000266509.6:exon14:c.T1888G:p.C630G 12p12.2 C3N-01522 . . . . . . . . . 17.20 D D D D D D H T D 0.898 D D D 0.887 0.795 0.962 . T T D D D D 4.402 31 0.985 D D 0.936 12.012 0.846 11.618 0.986 0.487 0.574 0.574 0.564 . 5.320 5.320 6.971 1.138 0.665 1.000 0.999 0.995 885 Major_facilitator_superfamily_domain . . . SLCO1C1 182 0 137 70 0.338164251207729 TRUE TRUE +ENSG00000133687.16 . BCM GRCh38.p13 chr12 29516428 29516428 + A A T Missense_Mutation SNP ENST00000539277.6 exon15 c.T2228A p.I743N exonic ENSG00000133687.16 . nonsynonymous SNV ENSG00000133687.16:ENST00000539277.6:exon15:c.T2228A:p.I743N 12p11.22 C3N-01522 . . . . . . . . . 15.20 D D D D D D M T D 0.901 T T D 0.280 0.687 0.868 0.936 T T D D D D 3.680 25.300 0.994 D D 0.692 7.008 0.650 6.918 1.000 0.672 0.574 0.702 0.621 . 5.260 5.260 8.265 1.312 0.756 1.000 0.181 0.247 762 Tetratricopeptide_repeat-containing_domain . . . TMTC1 224 0 148 69 0.317972350230415 TRUE TRUE +ENSG00000123384.14 . BCM GRCh38.p13 chr12 57162423 57162423 + G G A Missense_Mutation SNP ENST00000243077.8 exon14 c.G2309A p.R770Q exonic ENSG00000123384.14 . nonsynonymous SNV ENSG00000123384.14:ENST00000243077.8:exon14:c.G2309A:p.R770Q 12q13.3 C3N-01522 1.647e-05 0 0 0 0 2.997e-05 0 0 rs769851229 2.20 T T B B N N N D N 0.180 T T T 0.313 . 0.305 . T T T T T D 2.056 19.680 0.990 N N -0.367 1.456 -0.208 1.766 1.000 0.672 0.588 0.702 0.580 . 4.870 4.870 1.111 1.176 0.676 0.016 0.965 0.873 266 . . . ID=COSV54507646;OCCURENCE=5(prostate) LRP1 637 0 385 175 0.3125 TRUE TRUE +ENSG00000198598.6 . BCM GRCh38.p13 chr12 131851098 131851098 + C C T Missense_Mutation SNP ENST00000360564.5 exon10 c.C1636T p.P546S exonic ENSG00000198598.6 . nonsynonymous SNV ENSG00000198598.6:ENST00000360564.5:exon10:c.C1636T:p.P546S 12q24.33 C3N-01522 1.226e-05 0 0.0001 0 0 0 0 0 rs769408097 3.20 D T B B N N L T N 0.342 T T T 0.087 0.250 0.503 0.231 T T T T T T 1.614 16.460 0.986 D D -0.613 0.964 -0.555 1.115 1.000 0.696 0.547 0.723 0.655 . 4.880 3.970 3.684 0.932 0.531 0.130 0.002 0.002 982 . . . ID=COSV100861946;OCCURENCE=1(endometrium) MMP17 74 0 42 24 0.363636363636364 TRUE NA +ENSG00000120662.16 . BCM GRCh38.p13 chr13 41240316 41240316 + A A G Missense_Mutation SNP ENST00000379480.9 exon6 c.T815C p.M272T exonic ENSG00000120662.16 . nonsynonymous SNV ENSG00000120662.16:ENST00000379480.9:exon6:c.T815C:p.M272T 13q14.11 C3N-01522 . . . . . . . . . 8.20 T T D P D D N T N 0.784 T T T 0.398 0.524 0.466 0.610 D T T T D D 3.294 24.100 0.993 D D 0.426 4.512 0.552 5.669 1.000 0.706 0.725 0.710 0.636 . 5.760 5.760 9.113 1.312 0.691 1.000 1.000 0.988 672 Peptide_chain_release_factor . . . MTRF1 151 0 89 66 0.425806451612903 TRUE TRUE +ENSG00000136153.20 . BCM GRCh38.p13 chr13 75853273 75853273 + C C G Missense_Mutation SNP ENST00000377534.8 exon28 c.C4546G p.P1516A exonic ENSG00000136153.20 . nonsynonymous SNV ENSG00000136153.20:ENST00000377534.8:exon28:c.C4546G:p.P1516A 13q22.2 C3N-01522 . . . . . . . . . 2.19 D T P B N N . T D 0.287 T T T 0.058 0.204 0.348 0.056 T T T T T T 0.588 7.394 0.991 N N -0.436 1.307 -0.544 1.132 1.000 0.706 0.725 0.659 0.613 . 5.540 2.830 0.907 0.877 0.599 0.012 0.009 0.074 851 . . . . LMO7 333 0 216 92 0.298701298701299 TRUE TRUE +ENSG00000184564.11 . BCM GRCh38.p13 chr13 85794374 85794374 + C C T Missense_Mutation SNP ENST00000647374.2 exon2 c.G2135A p.S712N exonic ENSG00000184564.11 . nonsynonymous SNV ENSG00000184564.11:ENST00000647374.2:exon2:c.G2135A:p.S712N 13q31.1 C3N-01522 . . . . . . . . . 0.20 T T B B N N N T N 0.026 T T T 0.105 0.118 0.490 0.040 T T T T T T 0.507 6.581 0.742 N N -0.720 0.780 -0.627 1.005 0.089 0.554 0.574 0.602 0.564 . 5.840 -0.852 0.634 0.138 0.599 0.993 0.764 0.940 973 . . . . SLITRK6 157 0 85 63 0.425675675675676 TRUE NA +ENSG00000103479.16 . BCM GRCh38.p13 chr16 53447071 53447071 + T T G Missense_Mutation SNP ENST00000262133.11 exon4 c.T602G p.F201C exonic ENSG00000103479.16 . nonsynonymous SNV ENSG00000103479.16:ENST00000262133.11:exon4:c.T602G:p.F201C 16q12.2 C3N-01522 . . . . . . . . . 19.20 D D D D D D M T D 0.852 D D D 0.812 0.704 0.840 1.011 D D D D D D 4.254 29.200 0.995 D D 0.763 8.096 0.720 8.153 0.999 0.732 0.744 0.651 0.728 . 5.380 5.380 6.019 1.118 0.609 1.000 1.000 0.999 489 Retinoblastoma-associated_protein,_N-terminal . . . RBL2 71 2 73 38 0.342342342342342 TRUE NA +ENSG00000091622.16 . BCM GRCh38.p13 chr17 6474504 6474504 + C C A Missense_Mutation SNP ENST00000262483.13 exon10 c.G1186T p.D396Y exonic ENSG00000091622.16 . nonsynonymous SNV ENSG00000091622.16:ENST00000262483.13:exon10:c.G1186T:p.D396Y 17p13.2 C3N-01522 . . . . . . . . . 17.20 D D D D D D M T D 0.863 T T D 0.517 0.727 0.353 1.284 D D D D D D 4.108 27.800 0.995 D D 0.723 7.456 0.703 7.802 1.000 0.516 0.610 0.576 0.568 . 5.130 5.130 7.562 1.026 0.599 1.000 0.990 0.956 682 DDHD_domain . . . PITPNM3 571 0 350 152 0.302788844621514 TRUE TRUE +ENSG00000270765.6 . BCM GRCh38.p13 chr17 35747109 35747109 + C C T Missense_Mutation SNP ENST00000604641.6 exon5 c.G992A p.R331Q exonic ENSG00000270765.6 . nonsynonymous SNV ENSG00000270765.6:ENST00000604641.6:exon5:c.G992A:p.R331Q 17q12 C3N-01522 9.187e-05 0.0006 0 0 0 6.083e-05 0 6.16e-05 rs370992265 0.18 . T P B N N L T . 0.257 T T T 0.036 . 0.360 . T T T T T T 1.198 13.620 0.987 N N -0.423 1.332 -0.419 1.339 0.030 0.581 0.578 0.576 0.563 . 5.100 3.140 0.476 0.128 -0.173 0.376 0.643 0.406 460 . . . . GAS2L2 140 0 71 40 0.36036036036036 TRUE NA +ENSG00000212710.5 . BCM GRCh38.p13 chr18 22417199 22417199 + G G A Nonsense_Mutation SNP ENST00000391403.4 exon1 c.C613T p.Q205X exonic ENSG00000212710.5 . stopgain ENSG00000212710.5:ENST00000391403.4:exon1:c.C613T:p.Q205X 18q11.2 C3N-01522 . . . . . . . . . 3.5 . . . . . D . . . 0.465 . . . . . . . . . D D . . 4.993 33 0.995 N N 0.312 3.842 -0.082 2.099 0.004 0.638 0.670 0.547 0.621 . 0.741 0.741 2.232 0.294 -0.395 0.999 0.246 0.010 915 . . . ID=COSV101194675;OCCURENCE=1(urinary_tract) CTAGE1 119 0 174 44 0.201834862385321 NA TRUE +ENSG00000008382.15 . BCM GRCh38.p13 chr19 4357304 4357304 + A A G Missense_Mutation SNP ENST00000262966.12 exon9 c.A1048G p.S350G exonic ENSG00000008382.15 . nonsynonymous SNV ENSG00000008382.15:ENST00000262966.12:exon9:c.A1048G:p.S350G 19p13.3 C3N-01522 . . . . . . . . . 16.20 D D D D U D H T D 0.919 D D D 0.874 0.915 0.871 0.115 T T D D D D 3.963 26.700 0.999 D D 0.836 9.521 0.689 7.550 1.000 0.635 0.644 0.644 0.636 . 3.670 3.670 8.020 1.207 0.756 1.000 1.000 0.981 884 JAB1/MPN/MOV34_metalloenzyme_domain;MPN_domain . . . MPND 149 0 95 55 0.366666666666667 TRUE TRUE +ENSG00000160161.9 . BCM GRCh38.p13 chr19 19543248 19543248 + G G T Missense_Mutation SNP ENST00000291495.5 exon7 c.G978T p.W326C exonic ENSG00000160161.9 . nonsynonymous SNV ENSG00000160161.9:ENST00000291495.5:exon7:c.G978T:p.W326C 19p13.11 C3N-01522 . . . . . . . . . 19.20 D D D D D D H D D 0.969 D D D 0.903 0.957 0.983 1.467 T D D D D D 5.635 34 0.992 D D 1.029 14.843 0.881 12.979 1.000 0.646 0.547 0.645 0.563 . 4.790 4.790 9.842 1.083 0.618 1.000 0.991 0.896 432 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . CILP2 124 0 82 29 0.261261261261261 TRUE TRUE +ENSG00000105726.17 . BCM GRCh38.p13 chr19 19645735 19645735 + G G T Missense_Mutation SNP ENST00000357324.11 exon25 c.C3416A p.A1139E exonic ENSG00000105726.17 . nonsynonymous SNV ENSG00000105726.17:ENST00000357324.11:exon25:c.C3416A:p.A1139E 19p13.11 C3N-01522 . . . . . . . . . 8.20 D T B B N D L D N 0.774 T D D 0.671 0.659 0.991 0.693 T T D D T D 1.944 18.830 0.962 N N -0.593 1.000 -0.616 1.022 0.393 0.707 0.702 0.702 0.714 . 5.490 -0.763 1.786 0.133 -0.135 0.262 0.947 0.904 441 . . . . ATP13A1 267 0 170 75 0.306122448979592 TRUE TRUE +ENSG00000173809.18 . BCM GRCh38.p13 chr19 32738968 32738968 + A A T Missense_Mutation SNP ENST00000444215.6 exon3 c.A296T p.K99M exonic ENSG00000173809.18 . nonsynonymous SNV ENSG00000173809.18:ENST00000444215.6:exon3:c.A296T:p.K99M 19q13.11 C3N-01522 . . . . . . . . . 8.19 D D D D N N . T D 0.507 T T T 0.102 0.567 0.048 . T T T T D D 3.410 24.400 0.994 D N 0.012 2.554 -0.125 1.978 0.000 0.554 0.574 0.602 0.564 . 5.610 -0.173 2.027 1.291 0.756 1.000 0.989 0.864 848 Tudor_domain . . . TDRD12 221 0 118 71 0.375661375661376 TRUE TRUE +ENSG00000007129.18 . BCM GRCh38.p13 chr19 41577361 41577379 + AACCAGCTAATCGCAGCAT AACCAGCTAATCGCAGCAT - Frame_Shift_Del DEL ENST00000401445.4 exon2 c.226_244del p.N76Mfs*2 exonic ENSG00000007129.18 . frameshift deletion ENSG00000007129.18:ENST00000401445.4:exon2:c.226_244del:p.N76Mfs*2 19q13.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEACAM21 662 0 369 124 0.251521298174442 TRUE TRUE +ENSG00000177045.10 . BCM GRCh38.p13 chr19 45768586 45768586 + A A T Missense_Mutation SNP ENST00000317578.7 exon1 c.T259A p.S87T exonic ENSG00000177045.10 . nonsynonymous SNV ENSG00000177045.10:ENST00000317578.7:exon1:c.T259A:p.S87T 19q13.32 C3N-01522 . . . . . . . . . 10.20 T T P B N D N D N 0.576 T T D 0.264 0.193 0.813 1.857 D D D D T D 2.604 22.600 0.947 D D -0.310 1.590 -0.224 1.730 1.000 0.243 0.484 0.391 0.492 . 3.820 2.790 6.588 1.206 0.649 1.000 1.000 0.950 799 Homeobox_protein_SIX1,_N-terminal_SD_domain . . . SIX5 36 0 31 18 0.36734693877551 TRUE TRUE +ENSG00000132635.17 . BCM GRCh38.p13 chr20 2838252 2838252 + G G C Missense_Mutation SNP ENST00000360652.7 exon6 c.C821G p.P274R exonic ENSG00000132635.17 . nonsynonymous SNV ENSG00000132635.17:ENST00000360652.7:exon6:c.C821G:p.P274R 20p13 C3N-01522 . . . . . . . . . 15.20 D D D D D D M T D 0.911 T T D 0.432 0.513 0.681 1.272 T T D D D D 3.316 24.200 0.998 D D 0.621 6.147 0.533 5.473 0.998 0.742 0.775 0.723 0.714 . 4.290 3.340 6.190 1.176 0.676 1.000 0.681 0.513 473 . . . . PCED1A 352 1 189 118 0.384364820846906 TRUE TRUE +ENSG00000089050.16 . BCM GRCh38.p13 chr20 18497166 18497166 + A A G Translation_Start_Site SNP ENST00000337227.9 exon1 c.T2C p.M1? exonic ENSG00000089050.16 . startloss ENSG00000089050.16:ENST00000337227.9:exon1:c.T2C:p.M1? 20p11.23 C3N-01522 8.713e-06 0 0 0 0 1.582e-05 0 0 rs775738842 10.17 D D B B D D . . N 0.924 T T D 0.227 0.710 0.298 . . T D D D D 3.069 23.600 0.994 D N 0.094 2.864 0.202 3.193 1.000 0.442 0.522 0.522 0.373 . 5.010 5.010 3.174 1.312 0.756 1.000 0.979 0.926 521 . . . . RBBP9 241 0 154 78 0.336206896551724 TRUE NA +ENSG00000124177.15 . BCM GRCh38.p13 chr20 41473357 41473357 + A A G Missense_Mutation SNP ENST00000373233.8 exon17 c.T2629C p.F877L exonic ENSG00000124177.15 . nonsynonymous SNV ENSG00000124177.15:ENST00000373233.8:exon17:c.T2629C:p.F877L 20q12 C3N-01522 . . . . . . . . . 14.20 D D B B D D L T D 0.847 T T D 0.751 0.710 0.979 2.045 D D D D D D 3.633 25.200 0.999 D D 0.365 4.131 0.496 5.123 1.000 0.732 0.725 0.744 0.714 . 5.620 5.620 9.294 1.312 0.756 1.000 1.000 1.000 951 Helicase,_C-terminal . . . CHD6 165 0 92 47 0.338129496402878 TRUE TRUE +ENSG00000171703.17 . BCM GRCh38.p13 chr20 64070611 64070611 + - NA A Frame_Shift_Ins NA ENST00000343484.10 exon8 c.796dupA p.N268Efs*13 exonic ENSG00000171703.17 . frameshift insertion ENSG00000171703.17:ENST00000343484.10:exon8:c.796dupA:p.N268Efs*13 20q13.33 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCEA2 NA NA NA NA NA NA NA +ENSG00000166265.13 . BCM GRCh38.p13 chr21 26566296 26566296 + G G T Missense_Mutation SNP ENST00000299340.9 exon2 c.C146A p.S49Y exonic ENSG00000166265.13 . nonsynonymous SNV ENSG00000166265.13:ENST00000299340.9:exon2:c.C146A:p.S49Y 21q21.3 C3N-01522 . . . . . . . . . 13.20 D D D D D D L T D 0.908 T T T 0.365 0.799 0.618 0.296 T T D D D D 3.835 26.000 0.995 D D 0.737 7.674 0.720 8.151 1.000 0.732 0.574 0.744 0.632 . 5.050 5.050 6.176 1.176 0.618 1.000 1.000 0.995 927 . . . . CYYR1 187 0 127 68 0.348717948717949 TRUE TRUE +ENSG00000184949.16 . BCM GRCh38.p13 chr22 38605346 38605346 + G G T Missense_Mutation SNP ENST00000535113.5 exon13 c.C1129A p.H377N exonic ENSG00000184949.16 . nonsynonymous SNV ENSG00000184949.16:ENST00000535113.5:exon13:c.C1129A:p.H377N 22q13.1 C3N-01522 . . . . . . . . . 0.19 T T B B U N L . N 0.085 T T T 0.052 0.177 0.014 . T T T T T T 0.623 7.732 0.370 N N -1.094 0.312 -1.159 0.318 0.009 0.615 0.590 0.659 0.568 . 3.600 -2.400 -0.035 0.032 0.676 0.000 0.119 0.492 749 . . . . FAM227A 88 0 61 42 0.407766990291262 TRUE TRUE +ENSG00000251322.9 . BCM GRCh38.p13 chr22 50730928 50730928 + - NA C Frame_Shift_Ins NA ENST00000445220.5 exon23 c.4792dupC p.T1600Hfs*87 exonic ENSG00000251322.9 . frameshift insertion ENSG00000251322.9:ENST00000445220.5:exon23:c.4792dupC:p.T1600Hfs*87 22q13.33 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHANK3 NA NA NA NA NA NA NA +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53214817 53214817 + G G A Nonsense_Mutation SNP ENST00000375401.8 exon8 c.C994T p.R332X exonic ENSG00000126012.12 . stopgain ENSG00000126012.12:ENST00000375401.8:exon8:c.C994T:p.R332X Xp11.22 C3N-01522 . . . . . . . . . 5.5 . . . . D A . . . 0.944 . . . . . . . . . D D . . 5.906 35 0.998 D . . . . . 1.000 . . . . . 5.480 5.480 4.108 1.176 0.676 1.000 1.000 0.996 75 Zinc_finger,_PHD-type;Zinc_finger,_PHD-type,_conserved_site;Zinc_finger,_PHD-finger . . ID=COSV64763470;OCCURENCE=2(breast) KDM5C 250 0 73 146 0.666666666666667 TRUE TRUE +ENSG00000165509.13 . BCM GRCh38.p13 chrX 141897713 141897713 + A A G Missense_Mutation SNP ENST00000298296.1 exon8 c.A1813G p.M605V exonic ENSG00000165509.13 . nonsynonymous SNV ENSG00000165509.13:ENST00000298296.1:exon8:c.A1813G:p.M605V Xq27.2 C3N-01522 2.301e-05 0 0 0 0 4.193e-05 0 0 rs200784001 1.18 D T B B . N N T N 0.155 T T T 0.030 . 0.422 0.034 T T T T T T 0.438 5.842 0.384 N . . . . . 0.000 . . . . . 1.250 -2.500 -0.309 -0.716 0.560 0.000 0.000 0.003 987 MAGE_homology_domain . . . MAGEC3 105 0 37 51 0.579545454545455 TRUE NA +ENSG00000164237.9 . BCM GRCh38.p13 chr5 10282289 10282289 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000164237.9 ENST00000296658.4:exon5:c.467-1G>C . . 5p15.2 C3N-01522 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.884 33 0.991 D . 0.903 11.129 0.688 7.529 1.000 0.263 0.305 0.121 0.093 0.953 4.890 4.890 6.715 1.010 0.580 1.000 0.764 0.772 856 . . . . CMBL 121 0 84 53 0.386861313868613 TRUE TRUE +ENSG00000177963.14 . BCM GRCh38.p13 chr11 212513 212513 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000177963.14 ENST00000526104.5:exon6:c.1065+2T>C . . 11p15.5 C3N-01522 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.844 33 0.987 D . 0.972 13.074 0.766 9.191 0.997 0.156 0.158 0.123 0.221 0.878 4.020 2.900 7.393 1.138 0.665 1.000 0.826 0.632 774 . . . . RIC8A 285 0 199 111 0.358064516129032 TRUE TRUE +ENSG00000108846.16 . BCM GRCh38.p13 chr17 50667758 50667758 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000108846.16 ENST00000285238.13:exon12:c.1635+1G>A . . 17q21.33 C3N-01522 . . . . . . . . . 15.16 D D D D . D . D D 0.908 D D D 0.810 0.819 0.959 . . . D D D T 4.546 32 0.995 D D 0.816 9.104 0.692 7.611 1.000 0.601 0.588 0.492 0.620 . 4.170 4.170 10.003 1.172 0.618 1.000 0.657 0.350 838 . . . . ABCC3 328 0 239 117 0.328651685393258 TRUE TRUE +ENSG00000179914.5 . BCM GRCh38.p13 chr1 160883480 160883480 + T T G Silent SNP ENST00000326245.4 exon3 c.A105C p.P35P exonic ENSG00000179914.5 . synonymous SNV ENSG00000179914.5:ENST00000326245.4:exon3:c.A105C:p.P35P 1q23.3 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITLN1 221 0 172 54 0.238938053097345 TRUE TRUE +ENSG00000138074.15 . BCM GRCh38.p13 chr2 27201019 27201019 + G G A Silent SNP ENST00000310574.8 exon16 c.C1743T p.L581L exonic ENSG00000138074.15 . synonymous SNV ENSG00000138074.15:ENST00000310574.8:exon16:c.C1743T:p.L581L 2p23.3 C3N-01522 1.679e-05 0 0.0002 0 0 0 0 0 rs749989118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC5A6 65 0 34 20 0.37037037037037 TRUE NA +ENSG00000138002.15 . BCM GRCh38.p13 chr2 27448960 27448960 + C C T Silent SNP ENST00000260570.8 exon40 c.G4383A p.Q1461Q exonic ENSG00000138002.15 . synonymous SNV ENSG00000138002.15:ENST00000260570.8:exon40:c.G4383A:p.Q1461Q 2p23.3 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53137617;OCCURENCE=1(large_intestine) IFT172 241 0 147 59 0.286407766990291 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178607573 178607573 + T T C Silent SNP ENST00000591111.5 exon227 c.A48192G p.V16064V exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon227:c.A48192G:p.V16064V 2q31.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 564 1 395 183 0.316608996539792 TRUE NA +ENSG00000144668.12 . BCM GRCh38.p13 chr3 37494529 37494529 + C C T Silent SNP ENST00000264741.10 exon5 c.C573T p.H191H exonic ENSG00000144668.12 . synonymous SNV ENSG00000144668.12:ENST00000264741.10:exon5:c.C573T:p.H191H 3p22.2 C3N-01522 0.0015 0.0179 0.0004 0 0 1.521e-05 0 6.239e-05 rs62001860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA9 362 0 115 135 0.54 TRUE NA +ENSG00000114757.19 . BCM GRCh38.p13 chr3 179898226 179898226 + T T C Silent SNP ENST00000467460.6 exon3 c.A114G p.A38A exonic ENSG00000114757.19 . synonymous SNV ENSG00000114757.19:ENST00000467460.6:exon3:c.A114G:p.A38A 3q26.33 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PEX5L 236 0 147 56 0.275862068965517 TRUE TRUE +ENSG00000058063.16 . BCM GRCh38.p13 chr3 182865485 182865485 + T T C Silent SNP ENST00000323116.10 exon13 c.T1230C p.G410G exonic ENSG00000058063.16 . synonymous SNV ENSG00000058063.16:ENST00000323116.10:exon13:c.T1230C:p.G410G 3q26.33 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP11B 80 0 61 47 0.435185185185185 TRUE TRUE +ENSG00000052795.13 . BCM GRCh38.p13 chr4 158868541 158868541 + G G A Silent SNP ENST00000264433.11 exon13 c.G1905A p.G635G exonic ENSG00000052795.13 . synonymous SNV ENSG00000052795.13:ENST00000264433.11:exon13:c.G1905A:p.G635G 4q32.1 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FNIP2 219 0 167 62 0.270742358078603 TRUE TRUE +ENSG00000185372.3 . BCM GRCh38.p13 chr5 181124504 181124504 + C C G Silent SNP ENST00000641318.1 exon3 c.G801C p.R267R exonic ENSG00000185372.3 . synonymous SNV ENSG00000185372.3:ENST00000641318.1:exon3:c.G801C:p.R267R 5q35.3 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR2V1 81 0 62 39 0.386138613861386 NA TRUE +ENSG00000164520.11 . BCM GRCh38.p13 chr6 149890033 149890033 + A A G Silent SNP ENST00000357183.8 exon2 c.T198C p.S66S exonic ENSG00000164520.11;ENSG00000285991.1 . synonymous SNV ENSG00000164520.11:ENST00000357183.8:exon2:c.T198C:p.S66S,ENSG00000285991.1:ENST00000647612.1:exon3:c.T198C:p.S66S 6q25.1 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAET1E 381 0 80 97 0.548022598870056 TRUE TRUE +ENSG00000148154.10 . BCM GRCh38.p13 chr9 111931328 111931328 + A A G Silent SNP ENST00000374279.4 exon7 c.A795G p.S265S exonic ENSG00000148154.10 . synonymous SNV ENSG00000148154.10:ENST00000374279.4:exon7:c.A795G:p.S265S 9q31.3 C3N-01522 8.289e-06 0 0 0 0 1.509e-05 0 0 rs757865261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UGCG 89 0 94 36 0.276923076923077 TRUE NA +ENSG00000169813.16 . BCM GRCh38.p13 chr10 43387612 43387612 + G G A Silent SNP ENST00000443950.6 exon3 c.C273T p.T91T exonic ENSG00000169813.16 . synonymous SNV ENSG00000169813.16:ENST00000443950.6:exon3:c.C273T:p.T91T 10q11.21 C3N-01522 . . . . . . . . rs899239899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61560762;OCCURENCE=1(large_intestine) HNRNPF 206 1 139 34 0.196531791907514 TRUE TRUE +ENSG00000107798.18 . BCM GRCh38.p13 chr10 89245734 89245734 + A A G Silent SNP ENST00000336233.10 exon3 c.T171C p.D57D exonic ENSG00000107798.18 . synonymous SNV ENSG00000107798.18:ENST00000336233.10:exon3:c.T171C:p.D57D 10q23.31 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIPA 179 0 151 54 0.263414634146341 TRUE TRUE +ENSG00000107938.18 . BCM GRCh38.p13 chr10 125763463 125763463 + C C A Silent SNP ENST00000356792.9 exon25 c.C3708A p.A1236A exonic ENSG00000107938.18 . synonymous SNV ENSG00000107938.18:ENST00000356792.9:exon25:c.C3708A:p.A1236A 10q26.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EDRF1 360 1 220 61 0.217081850533808 TRUE TRUE +ENSG00000182334.2 . BCM GRCh38.p13 chr11 7825961 7825961 + T T C Silent SNP ENST00000641167.1 exon2 c.A12G p.G4G exonic ENSG00000182334.2 . synonymous SNV ENSG00000182334.2:ENST00000641167.1:exon2:c.A12G:p.G4G 11p15.4 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5P3 16 0 16 7 0.304347826086957 TRUE TRUE +ENSG00000158636.16 . BCM GRCh38.p13 chr11 76451940 76451940 + A A G Silent SNP ENST00000529032.5 exon2 c.A153G p.E51E exonic ENSG00000158636.16 . synonymous SNV ENSG00000158636.16:ENST00000529032.5:exon2:c.A153G:p.E51E 11q13.5 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EMSY 121 0 74 32 0.30188679245283 TRUE TRUE +ENSG00000123353.10 . BCM GRCh38.p13 chr12 55819128 55819128 + C C T Silent SNP ENST00000243045.10 exon2 c.C129T p.F43F exonic ENSG00000123353.10 . synonymous SNV ENSG00000123353.10:ENST00000243045.10:exon2:c.C129T:p.F43F 12q13.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ORMDL2 169 0 136 54 0.284210526315789 TRUE TRUE +ENSG00000174032.17 . BCM GRCh38.p13 chr13 45399066 45399066 + G G C Silent SNP ENST00000519676.6 exon8 c.C627G p.T209T exonic ENSG00000174032.17 . synonymous SNV ENSG00000174032.17:ENST00000519676.6:exon8:c.C627G:p.T209T 13q14.13 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A30 154 0 97 56 0.366013071895425 TRUE TRUE +ENSG00000150401.15 . BCM GRCh38.p13 chr13 113480673 113480673 + A A T Silent SNP ENST00000478244.6 exon3 c.T291A p.P97P exonic ENSG00000150401.15 . synonymous SNV ENSG00000150401.15:ENST00000478244.6:exon3:c.T291A:p.P97P 13q34 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCUN1D2 391 0 253 121 0.323529411764706 TRUE TRUE +ENSG00000137817.17 . BCM GRCh38.p13 chr15 72261701 72261701 + C C G Silent SNP ENST00000569795.6 exon9 c.G402C p.L134L exonic ENSG00000137817.17 . synonymous SNV ENSG00000137817.17:ENST00000569795.6:exon9:c.G402C:p.L134L 15q23 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PARP6 202 0 148 10 0.0632911392405063 TRUE TRUE +ENSG00000156858.11 . BCM GRCh38.p13 chr16 30655378 30655378 + A A G Silent SNP ENST00000542965.2 exon8 c.A1272G p.P424P exonic ENSG00000156858.11 . synonymous SNV ENSG00000156858.11:ENST00000542965.2:exon8:c.A1272G:p.P424P 16p11.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRR14 271 0 187 80 0.299625468164794 TRUE TRUE +ENSG00000002919.14 . BCM GRCh38.p13 chr17 48112061 48112061 + G G A Silent SNP ENST00000393405.6 exon3 c.G18A p.R6R exonic ENSG00000002919.14 . synonymous SNV ENSG00000002919.14:ENST00000393405.6:exon3:c.G18A:p.R6R 17q21.32 C3N-01522 8.237e-06 0 0 0 0 1.498e-05 0 0 rs772748470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX11 270 0 164 60 0.267857142857143 TRUE NA +ENSG00000158201.10 . BCM GRCh38.p13 chr18 21704558 21704558 + A A T Silent SNP ENST00000289119.7 exon1 c.T108A p.L36L exonic ENSG00000158201.10 . synonymous SNV ENSG00000158201.10:ENST00000289119.7:exon1:c.T108A:p.L36L 18q11.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABHD3 191 0 117 27 0.1875 TRUE TRUE +ENSG00000181733.3 . BCM GRCh38.p13 chr19 8731340 8731340 + C C A Silent SNP ENST00000641125.1 exon3 c.C312A p.L104L exonic ENSG00000181733.3 . synonymous SNV ENSG00000181733.3:ENST00000641125.1:exon3:c.C312A:p.L104L 19p13.2 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100136454;OCCURENCE=1(skin) OR2Z1 275 0 172 81 0.320158102766798 TRUE TRUE +ENSG00000188505.5 . BCM GRCh38.p13 chr19 39197036 39197036 + G G A Silent SNP ENST00000339852.5 exon1 c.G54A p.G18G exonic ENSG00000188505.5 . synonymous SNV ENSG00000188505.5:ENST00000339852.5:exon1:c.G54A:p.G18G 19q13.2 C3N-01522 0 0 0 0 0 0 0 0 rs753673551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCCRP1 461 0 301 126 0.295081967213115 TRUE NA +ENSG00000088876.13 . BCM GRCh38.p13 chr20 2483340 2483340 + T T G Silent SNP ENST00000278772.9 exon6 c.A1621C p.R541R exonic ENSG00000088876.13 . synonymous SNV ENSG00000088876.13:ENST00000278772.9:exon6:c.A1621C:p.R541R 20p13 C3N-01522 8.237e-06 9.61e-05 0 0 0 0 0 0 rs769462325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF343 304 0 181 118 0.394648829431438 TRUE NA +ENSG00000198205.6 . BCM GRCh38.p13 chrX 57908306 57908306 + C C T Silent SNP ENST00000358697.5 exon1 c.G2115A p.L705L exonic ENSG00000198205.6 . synonymous SNV ENSG00000198205.6:ENST00000358697.5:exon1:c.G2115A:p.L705L Xp11.21 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZXDA 67 0 13 47 0.783333333333333 NA TRUE +ENSG00000178104.19 . BCM GRCh38.p13 chr1 149032037 149032037 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000178104.19 ENST00000369354.7:c.*52A>T . . 1q21.2 C3N-01522 . . . . . . . . . 2.6 D D . . . . . T N 0.303 . . . . . . . . . . . . T 3.309 24.100 . . N . . . . . . . . . . . . 0.996 0.284 -0.226 0.003 0.984 0.957 889 . . . . PDE4DIP 508 0 354 123 0.257861635220126 NA TRUE +ENSG00000118004.18 . BCM GRCh38.p13 chr2 3644185 3644185 + A A T 3'UTR SNP NA NA NA NA UTR3 ENSG00000118004.18 ENST00000349077.9:c.*67A>T . . 2p25.3 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COLEC11 403 0 267 140 0.343980343980344 TRUE NA +ENSG00000224746.2 . BCM GRCh38.p13 chr7 135927729 135927729 + T T A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000224746.2 . . . 7q33 C3N-01522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC015987.1 31 0 31 18 0.36734693877551 TRUE NA +ENSG00000137074.20 . BCM GRCh38.p13 chr9 33001605 33001605 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000137074.20 ENST00000379817.7:c.-11714G>A . . 9p21.1 C3N-01522 . . . . . . . . rs564001060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APTX 487 0 305 131 0.30045871559633 TRUE NA +ENSG00000119685.20 . BCM GRCh38.p13 chr14 75904109 75904109 + G G T Intron SNP NA NA NA NA intronic ENSG00000119685.20 . . . 14q24.3 C3N-01522 . . . . . . . . rs1029274533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTLL5 41 0 46 3 0.0612244897959184 TRUE NA +ENSG00000140939.14 . BCM GRCh38.p13 chr16 67173917 67173917 + G G A Intron SNP NA NA NA NA intronic ENSG00000140939.14 . . . 16q22.1 C3N-01522 . . . . . . . . . 1.9 . D . . . N . . N 0.038 . . T . . 0.439 . . . T T . T 0.458 6.065 0.972 N N . . . . 1.000 0.767 0.851 0.674 0.492 . 3.540 0.054 -1.208 0.180 0.676 0.000 0.149 0.934 45 . . . . NOL3 277 0 163 96 0.370656370656371 TRUE TRUE +ENSG00000007923.16 . BCM GRCh38.p13 chr1 6645081 6645081 + A A C Missense_Mutation SNP ENST00000377577.10 exon9 c.T940G p.F314V exonic ENSG00000007923.16 . nonsynonymous SNV ENSG00000007923.16:ENST00000377577.10:exon9:c.T940G:p.F314V 1p36.31 C3N-01524 . . . . . . . . . 11.20 D T B B D D L T N 0.793 T T D 0.238 0.316 0.508 0.633 D T D D D D 2.936 23.300 0.983 D D 0.166 3.156 0.341 3.962 1.000 0.707 0.702 0.702 0.714 . 5.590 5.590 8.691 1.312 0.691 1.000 0.998 0.997 520 . . . . DNAJC11 225 0 133 49 0.269230769230769 TRUE TRUE +ENSG00000171735.19 . BCM GRCh38.p13 chr1 7736408 7736408 + A A C Missense_Mutation SNP ENST00000303635.12 exon13 c.A3131C p.K1044T exonic ENSG00000171735.19 . nonsynonymous SNV ENSG00000171735.19:ENST00000303635.12:exon13:c.A3131C:p.K1044T 1p36.23 C3N-01524 . . . . . . . . . 12.20 D T D P D D L T D 0.809 T T T 0.409 0.436 0.697 1.517 D T D D D D 4.074 27.500 0.998 D D 0.686 6.921 0.705 7.846 1.000 0.713 0.627 0.609 0.568 . 5.580 5.580 9.254 1.307 0.751 1.000 1.000 0.992 796 . . . . CAMTA1 226 0 152 66 0.302752293577982 TRUE TRUE +ENSG00000133216.16 . BCM GRCh38.p13 chr1 22906925 22906925 + A A C Missense_Mutation SNP ENST00000400191.7 exon11 c.A2104C p.M702L exonic ENSG00000133216.16 . nonsynonymous SNV ENSG00000133216.16:ENST00000400191.7:exon11:c.A2104C:p.M702L 1p36.12 C3N-01524 . . . . . . . . . 15.20 D D D D D D L T D 0.770 T T T 0.494 0.827 0.817 1.415 D D D D D D 3.931 26.500 0.986 D D 0.710 7.266 0.737 8.496 1.000 0.706 0.610 0.710 0.714 . 5.430 5.430 9.325 1.312 0.756 1.000 1.000 0.980 801 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . EPHB2 69 0 62 25 0.28735632183908 TRUE TRUE +ENSG00000130770.18 . BCM GRCh38.p13 chr1 28237953 28237953 + T T G Missense_Mutation SNP ENST00000335514.10 exon3 c.T296G p.I99S exonic ENSG00000130770.18 . nonsynonymous SNV ENSG00000130770.18:ENST00000335514.10:exon3:c.T296G:p.I99S 1p35.3 C3N-01524 . . . . . . . . . 17.19 D D D D D D M D D 0.764 D D D 0.723 0.268 0.948 1.149 T T D D D . 4.266 29.300 0.992 D D 0.598 5.902 0.453 4.761 1.000 0.672 0.672 0.702 0.711 . 5.830 5.830 7.593 1.138 0.665 1.000 0.926 0.736 564 . . . . ATP5IF1 82 0 61 32 0.344086021505376 TRUE TRUE +ENSG00000146463.12 . BCM GRCh38.p13 chr1 35392266 35392266 + A A C Missense_Mutation SNP ENST00000314607.11 exon16 c.A2642C p.D881A exonic ENSG00000146463.12 . nonsynonymous SNV ENSG00000146463.12:ENST00000314607.11:exon16:c.A2642C:p.D881A 1p34.3 C3N-01524 . . . . . . . . . 7.20 D T B B D D L T D 0.530 T T T 0.139 0.183 0.043 0.902 T T T T D T 3.319 24.200 0.991 D D 0.363 4.120 0.435 4.615 1.000 0.707 0.725 0.658 0.714 . 4.980 4.980 7.128 1.312 0.691 1.000 1.000 0.999 543 . . . . ZMYM4 274 0 165 58 0.260089686098655 TRUE TRUE +ENSG00000162415.7 . BCM GRCh38.p13 chr1 45018812 45018812 + C C A Missense_Mutation SNP ENST00000359600.6 exon14 c.G3200T p.S1067I exonic ENSG00000162415.7 . nonsynonymous SNV ENSG00000162415.7:ENST00000359600.6:exon14:c.G3200T:p.S1067I 1p34.1 C3N-01524 . . . . . . . . . 16.20 D D D D D D M T D 0.922 T T D 0.489 0.660 0.831 0.477 D T D D D D 3.872 26.200 0.996 D D 0.799 8.752 0.759 9.024 1.000 0.658 0.441 0.660 0.573 . 4.840 4.840 7.568 1.026 0.599 1.000 0.994 0.996 708 . . . . ZSWIM5 204 0 233 31 0.117424242424242 TRUE TRUE +ENSG00000162598.13 . BCM GRCh38.p13 chr1 60055424 60055424 + C C T Missense_Mutation SNP ENST00000371201.3 exon3 c.G122A p.S41N exonic ENSG00000162598.13 . nonsynonymous SNV ENSG00000162598.13:ENST00000371201.3:exon3:c.G122A:p.S41N 1p32.1 C3N-01524 . . . . . . . . . 0.19 T T B B N N N T N 0.030 T T T 0.039 0.091 0.128 0.050 . T T T T T -0.251 0.397 0.246 N N -1.627 0.049 -1.526 0.098 0.115 0.487 0.574 0.574 0.564 . 4.660 -0.787 0.272 -0.152 -0.169 0.237 0.542 0.025 879 . . . . C1orf87 176 0 122 54 0.306818181818182 TRUE TRUE +ENSG00000024526.17 . BCM GRCh38.p13 chr1 68494579 68494579 + G G T Missense_Mutation SNP ENST00000456315.7 exon2 c.C165A p.D55E exonic ENSG00000024526.17 . nonsynonymous SNV ENSG00000024526.17:ENST00000456315.7:exon2:c.C165A:p.D55E 1p31.3 C3N-01524 . . . . . . . . . 0.20 T T B B N N N T N 0.074 T T T 0.040 0.566 0.176 0.120 T T T T T T 0.341 4.757 0.733 N N -1.453 0.097 -1.261 0.236 1.000 0.732 0.628 0.744 0.632 . 5.580 -3.040 -0.170 -0.995 -1.568 0.576 0.892 0.843 946 DEP_domain . . . DEPDC1 181 1 241 82 0.253869969040248 NA TRUE +ENSG00000085433.15 . BCM GRCh38.p13 chr1 109004644 109004644 + T T C Missense_Mutation SNP ENST00000369962.7 exon6 c.A1202G p.E401G exonic ENSG00000085433.15 . nonsynonymous SNV ENSG00000085433.15:ENST00000369962.7:exon6:c.A1202G:p.E401G 1p13.3 C3N-01524 . . . . . . . . . 6.20 T T B B D D L T N 0.658 T T T 0.145 0.153 0.171 0.722 T T T T D D 2.883 23.200 0.997 D D -0.073 2.262 0.147 2.936 0.932 0.732 0.709 0.602 0.728 . 5.580 5.580 5.505 1.138 0.665 1.000 1.000 0.999 861 . . . . WDR47 209 0 152 49 0.243781094527363 TRUE TRUE +ENSG00000187800.13 . BCM GRCh38.p13 chr1 156909841 156909841 + T T C Missense_Mutation SNP ENST00000338302.7 exon13 c.T1502C p.V501A exonic ENSG00000187800.13 . nonsynonymous SNV ENSG00000187800.13:ENST00000338302.7:exon13:c.T1502C:p.V501A 1q23.1 C3N-01524 0.0003 0 0 0 0 0.0005 0 0 rs147493020 0.20 T T B B N N N T N 0.042 T T T 0.062 . 0.260 0.188 T T T T T T 1.641 16.640 0.634 N N -0.854 0.580 -0.643 0.982 1.000 0.707 0.616 0.602 0.714 . 5.050 3.010 1.955 0.018 0.665 0.030 0.997 0.998 402 EGF-like_domain;Laminin_EGF_domain . . . PEAR1 93 0 77 23 0.23 TRUE NA +ENSG00000143258.16 . BCM GRCh38.p13 chr1 161162357 161162357 + C C A Missense_Mutation SNP ENST00000368002.8 exon5 c.C748A p.P250T exonic ENSG00000143258.16 . nonsynonymous SNV ENSG00000143258.16:ENST00000368002.8:exon5:c.C748A:p.P250T 1q23.3 C3N-01524 . . . . . . . . . 5.20 T D D P N D L T N 0.222 T T T 0.136 0.485 0.755 1.480 T T T T D T 2.887 23.200 0.986 D N 0.418 4.457 0.439 4.645 1.000 0.732 0.725 0.744 0.636 . 4.760 4.760 2.565 0.966 0.530 1.000 1.000 0.994 297 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP21 74 0 37 20 0.350877192982456 TRUE TRUE +ENSG00000162975.5 . BCM GRCh38.p13 chr2 10913023 10913023 + G G T Missense_Mutation SNP ENST00000295082.3 exon1 c.G597T p.M199I exonic ENSG00000162975.5 . nonsynonymous SNV ENSG00000162975.5:ENST00000295082.3:exon1:c.G597T:p.M199I 2p25.1 C3N-01524 . . . . . . . . . 15.20 D D P B D D M D N 0.855 D D D 0.683 0.592 0.998 1.807 T T D D D D 3.478 24.600 0.994 D D 0.510 5.112 0.604 6.273 1.000 0.765 0.590 0.732 0.616 . 5.320 5.320 10.003 1.176 0.676 1.000 1.000 0.994 856 Ion_transport_domain . . . KCNF1 179 0 141 21 0.12962962962963 TRUE TRUE +ENSG00000143878.10 . BCM GRCh38.p13 chr2 20447506 20447506 + G G T Missense_Mutation SNP ENST00000272233.6 exon1 c.G41T p.G14V exonic ENSG00000143878.10 . nonsynonymous SNV ENSG00000143878.10:ENST00000272233.6:exon1:c.G41T:p.G14V 2p24.1 C3N-01524 . . . . . . . . . 17.20 D D D D U D M T D 0.568 D D D 0.872 0.910 0.933 3.099 D D D D D T 4.286 29.500 0.997 D D 0.753 7.937 0.665 7.145 1.000 0.685 0.749 0.674 0.562 . 5.720 4.840 7.935 1.166 0.665 1.000 1.000 0.998 431 Small_GTP-binding_protein_domain . . . RHOB 117 0 43 22 0.338461538461538 TRUE TRUE +ENSG00000144229.12 . BCM GRCh38.p13 chr2 137115217 137115217 + T T A Nonsense_Mutation SNP ENST00000409968.6 exon5 c.T1293A p.C431X exonic ENSG00000144229.12 . stopgain ENSG00000144229.12:ENST00000409968.6:exon5:c.T1293A:p.C431X 2q22.1 C3N-01524 . . . . . . . . . 5.6 . . . . D D . . . 0.430 . . . . . . . . . D D . . 6.787 36 0.993 D N 0.057 2.719 -0.190 1.811 0.986 0.539 0.574 0.607 0.564 . 4.880 -2.000 -0.100 0.202 -0.120 0.980 0.139 0.832 891 . . . . THSD7B 106 0 82 25 0.233644859813084 TRUE TRUE +ENSG00000168280.17 . BCM GRCh38.p13 chr2 148962042 148962042 + A A - Frame_Shift_Del DEL ENST00000435030.6 exon11 c.1040delA p.E349Rfs*8 exonic ENSG00000168280.17 . frameshift deletion ENSG00000168280.17:ENST00000435030.6:exon11:c.1040delA:p.E349Rfs*8 2q23.1 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF5C 58 0 78 21 0.212121212121212 TRUE TRUE +ENSG00000188738.15 . BCM GRCh38.p13 chr2 185803549 185803549 + T T C Missense_Mutation SNP ENST00000424728.6 exon17 c.T14243C p.I4748T exonic ENSG00000188738.15 . nonsynonymous SNV ENSG00000188738.15:ENST00000424728.6:exon17:c.T14243C:p.I4748T 2q32.1 C3N-01524 . . . . . . . . . 2.16 T T . . . N L T D 0.241 T T D 0.071 . 0.339 . T T T T T T 0.876 10.180 0.694 N . -0.645 0.907 -0.709 0.886 0.000 0.487 0.574 0.574 0.564 . 5.070 2.690 0.308 1.126 0.609 0.011 0.452 0.364 736 Fibrous_sheath-interacting_protein_2,_C-terminal . . . FSIP2 45 0 95 13 0.12037037037037 TRUE TRUE +ENSG00000115020.17 . BCM GRCh38.p13 chr2 208301031 208301031 + C C A Missense_Mutation SNP ENST00000264380.9 exon9 c.C1145A p.P382H exonic ENSG00000115020.17 . nonsynonymous SNV ENSG00000115020.17:ENST00000264380.9:exon9:c.C1145A:p.P382H 2q34 C3N-01524 . . . . . . . . . 13.20 T D D D D D L T D 0.833 T T D 0.429 0.788 0.538 1.043 D T D T D D 3.242 24.000 0.997 D D 0.574 5.666 0.618 6.457 1.000 0.707 0.654 0.609 0.714 . 5.540 5.540 7.882 1.026 0.599 1.000 0.992 0.931 661 DEP_domain;PIKfyve,_DEP_domain . . . PIKFYVE 297 0 201 79 0.282142857142857 TRUE TRUE +ENSG00000115365.12 . BCM GRCh38.p13 chr2 210437784 210437784 + T T A Missense_Mutation SNP ENST00000450366.7 exon7 c.A779T p.N260I exonic ENSG00000115365.12 . nonsynonymous SNV ENSG00000115365.12:ENST00000450366.7:exon7:c.A779T:p.N260I 2q34 C3N-01524 8.255e-06 0 0 0 0 1.501e-05 0 0 rs55953221 16.20 D D D D D D H T D 0.950 D T D 0.770 0.841 0.711 0.044 T T D D D D 4.255 29.200 0.993 D D 0.924 11.699 0.819 10.709 1.000 0.732 0.725 0.710 0.728 . 5.340 5.340 7.674 1.138 0.609 1.000 1.000 0.990 423 . . . . LANCL1 133 0 89 25 0.219298245614035 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142179 10142179 + G G A Missense_Mutation SNP ENST00000256474.3 exon1 c.G332A p.S111N exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.G332A:p.S111N 3p25.3 C3N-01524 . . . . . . . . rs869025631 11.20 T T B B N N L D N 0.864 D D D 0.541 0.783 0.998 0.310 D D D D D T 2.907 23.200 0.992 D D -0.140 2.052 -0.012 2.319 1.000 0.442 0.522 0.522 0.562 . 5.170 3.370 4.016 1.002 0.522 1.000 1.000 0.977 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56542714;OCCURENCE=12(kidney) VHL 295 0 99 82 0.453038674033149 TRUE TRUE +ENSG00000113805.8 . BCM GRCh38.p13 chr3 74298121 74298121 + G G T Missense_Mutation SNP ENST00000263665.6 exon17 c.C2237A p.T746N exonic ENSG00000113805.8 . nonsynonymous SNV ENSG00000113805.8:ENST00000263665.6:exon17:c.C2237A:p.T746N 3p12.3 C3N-01524 . . . . . . . . . 3.20 T T B B D N L T N 0.226 T T T 0.075 0.325 0.635 0.488 T T T T D D 1.775 17.550 0.988 N N -0.266 1.700 -0.208 1.766 0.000 0.487 0.574 0.574 0.564 . 5.790 3.950 0.614 1.176 0.676 0.000 1.000 0.998 912 Fibronectin_type_III . . ID=COSV55185594;OCCURENCE=1(skin) CNTN3 73 0 44 32 0.421052631578947 TRUE TRUE +ENSG00000118007.13 . BCM GRCh38.p13 chr3 136502770 136502770 + A A G Missense_Mutation SNP ENST00000383202.7 exon8 c.T686C p.L229P exonic ENSG00000118007.13 . nonsynonymous SNV ENSG00000118007.13:ENST00000383202.7:exon8:c.T686C:p.L229P 3q22.3 C3N-01524 . . . . . . . . rs112680472 16.20 D D D D D D M T D 0.985 T T D 0.804 0.908 0.449 2.365 D T D D D D 4.251 29.100 0.999 D D 0.941 12.171 0.888 13.235 1.000 0.732 0.744 0.659 0.613 . 5.670 5.670 9.286 1.312 0.691 1.000 1.000 1.000 482 STAG . . . STAG1 55 0 76 29 0.276190476190476 TRUE NA +ENSG00000163755.9 . BCM GRCh38.p13 chr3 149145363 149145363 + C C A Missense_Mutation SNP ENST00000296051.7 exon5 c.C980A p.T327K exonic ENSG00000163755.9 . nonsynonymous SNV ENSG00000163755.9:ENST00000296051.7:exon5:c.C980A:p.T327K 3q24 C3N-01524 . . . . . . . . . 0.20 T T B B N N L T N 0.216 T T T 0.120 0.226 0.630 0.198 T T T T T T 0.647 7.960 0.484 N N -0.769 0.701 -0.741 0.842 1.000 0.732 0.659 0.744 0.662 . 5.110 4.210 1.064 0.710 0.454 0.000 0.597 0.496 929 Hermansky-Pudlak_syndrome_3,_central_region . . . HPS3 145 1 154 66 0.3 TRUE TRUE +ENSG00000047457.14 . BCM GRCh38.p13 chr3 149182023 149182023 + C C G Missense_Mutation SNP ENST00000264613.11 exon14 c.G2536C p.V846L exonic ENSG00000047457.14 . nonsynonymous SNV ENSG00000047457.14:ENST00000264613.11:exon14:c.G2536C:p.V846L 3q24 C3N-01524 . . . . . . . . . 11.17 T T . . D D . D N 0.449 D D D 0.570 0.478 0.946 0.125 T T D D D T 1.943 18.820 0.993 D D 0.345 4.022 0.301 3.725 1.000 0.554 0.574 0.602 0.613 . 6.170 6.170 3.035 1.026 0.599 0.947 0.856 0.750 917 Multicopper_oxidase,_type_3 . . . CP 177 0 159 69 0.302631578947368 TRUE NA +ENSG00000090402.8 . BCM GRCh38.p13 chr3 165039921 165039921 + C C G Missense_Mutation SNP ENST00000264382.8 exon19 c.G2210C p.G737A exonic ENSG00000090402.8 . nonsynonymous SNV ENSG00000090402.8:ENST00000264382.8:exon19:c.G2210C:p.G737A 3q26.1 C3N-01524 . . . . . . . . . 19.20 D D D D D D H D D 0.918 D D D 0.972 0.965 0.923 0.196 T D D D D D 3.558 24.900 0.998 D D 0.926 11.741 0.810 10.423 0.988 0.487 0.574 0.574 0.564 . 4.810 4.810 6.712 1.026 0.599 1.000 0.851 0.744 852 . . . . SI 231 0 217 77 0.261904761904762 TRUE TRUE +ENSG00000181449.4 . BCM GRCh38.p13 chr3 181712463 181712463 + A A T Nonsense_Mutation SNP ENST00000325404.3 exon1 c.A103T p.K35X exonic ENSG00000181449.4 . stopgain ENSG00000181449.4:ENST00000325404.3:exon1:c.A103T:p.K35X 3q26.33 C3N-01524 . . . . . . . . . 5.6 . . . . D D . . . 0.835 . . . . . . . . . D D . . 6.735 36 0.995 D N 0.635 6.296 0.446 4.701 1.000 0.733 0.596 0.601 0.555 . 4.730 4.730 5.632 1.292 0.730 1.000 1.000 0.119 900 . . . . SOX2 331 0 247 34 0.120996441281139 NA TRUE +ENSG00000109805.10 . BCM GRCh38.p13 chr4 17840691 17840691 + G G T Missense_Mutation SNP ENST00000251496.7 exon19 c.G2852T p.R951I exonic ENSG00000109805.10 . nonsynonymous SNV ENSG00000109805.10:ENST00000251496.7:exon19:c.G2852T:p.R951I 4p15.31 C3N-01524 . . . . . . . . . 7.20 D D B B N D M T N 0.482 T T T 0.115 0.290 0.448 0.435 T T T T D D 4.448 32 0.975 D N 0.070 2.771 0.146 2.929 0.078 0.732 0.744 0.744 0.728 . 5.140 4.280 2.466 1.176 0.618 0.990 0.995 0.936 516 . . . . NCAPG 35 0 43 17 0.283333333333333 TRUE NA +ENSG00000169836.5 . BCM GRCh38.p13 chr4 103719657 103719657 + C C T Missense_Mutation SNP ENST00000304883.3 exon1 c.G19A p.A7T exonic ENSG00000169836.5 . nonsynonymous SNV ENSG00000169836.5:ENST00000304883.3:exon1:c.G19A:p.A7T 4q24 C3N-01524 . . . . . . . . . 4.20 D D B B N N L T N 0.159 T T D 0.110 0.291 0.817 0.366 T T T T D T 1.927 18.700 0.998 N N -0.582 1.021 -0.565 1.099 0.967 0.447 0.563 0.504 0.555 . 4.010 4.010 1.678 0.865 0.549 0.002 0.005 0.039 479 . . . . TACR3 117 0 84 27 0.243243243243243 TRUE TRUE +ENSG00000072682.18 . BCM GRCh38.p13 chr5 132217240 132217240 + G G C Missense_Mutation SNP ENST00000401867.5 exon5 c.C288G p.D96E exonic ENSG00000072682.18 . nonsynonymous SNV ENSG00000072682.18:ENST00000401867.5:exon5:c.C288G:p.D96E 5q31.1 C3N-01524 . . . . . . . . . 2.20 T T B B N D N T N 0.208 T T T 0.164 0.796 0.686 0.223 T T T T T T 1.481 15.620 0.925 D N -0.445 1.287 -0.225 1.727 1.000 0.707 0.659 0.659 0.714 . 6.170 2.980 1.284 1.176 0.676 1.000 1.000 0.993 181 Prolyl_4-hydroxylase_alpha-subunit,_N-terminal . . . P4HA2 199 0 170 50 0.227272727272727 TRUE TRUE +ENSG00000145833.16 . BCM GRCh38.p13 chr5 134763918 134763918 + G G T Missense_Mutation SNP ENST00000354283.8 exon2 c.G32T p.R11L exonic ENSG00000145833.16 . nonsynonymous SNV ENSG00000145833.16:ENST00000354283.8:exon2:c.G32T:p.R11L 5q31.1 C3N-01524 . . . . . . . . . 11.20 T D B B D D M T D 0.470 T T D 0.173 0.295 0.608 1.076 D T T T D D 3.581 25.000 0.994 D D 0.056 2.718 0.134 2.880 1.000 0.707 0.725 0.702 0.714 . 5.220 4.360 7.081 1.176 0.676 1.000 0.994 0.870 766 . . . . DDX46 93 0 106 30 0.220588235294118 TRUE TRUE +ENSG00000044115.21 . BCM GRCh38.p13 chr5 138924591 138924591 + G G T Missense_Mutation SNP ENST00000302763.12 exon12 c.G1628T p.G543V exonic ENSG00000044115.21 . nonsynonymous SNV ENSG00000044115.21:ENST00000302763.12:exon12:c.G1628T:p.G543V 5q31.2 C3N-01524 . . . . . . . . . 16.20 D D D D D D M T D 0.879 T T D 0.619 0.692 0.902 2.329 D T D D D D 4.309 29.700 0.998 D D 0.957 12.627 0.931 15.123 1.000 0.707 0.725 0.702 0.714 . 5.510 5.510 10.003 1.176 0.676 1.000 1.000 1.000 518 . . . . CTNNA1 404 1 304 74 0.195767195767196 TRUE TRUE +ENSG00000055163.20 . BCM GRCh38.p13 chr5 157359049 157359050 + TT TT - Frame_Shift_Del DEL ENST00000616178.4 exon25 c.2793_2794del p.F932Rfs*58 exonic ENSG00000055163.20 . frameshift deletion ENSG00000055163.20:ENST00000616178.4:exon25:c.2793_2794del:p.F932Rfs*58 5q33.3 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYFIP2 192 0 223 53 0.192028985507246 TRUE TRUE +ENSG00000137177.20 . BCM GRCh38.p13 chr6 17773567 17773567 + T T C Missense_Mutation SNP ENST00000259711.11 exon36 c.A4235G p.Q1412R exonic ENSG00000137177.20 . nonsynonymous SNV ENSG00000137177.20:ENST00000259711.11:exon36:c.A4235G:p.Q1412R 6p22.3 C3N-01524 8.286e-06 0 8.66e-05 0 0 0 0 0 rs771426174 1.20 T T B B N N L T N 0.116 T T T 0.054 0.124 0.624 0.256 T T T T T T 1.927 18.700 0.995 D N 0.060 2.731 0.142 2.914 0.031 0.707 0.588 0.725 0.714 . 5.720 3.270 2.404 1.138 0.665 0.999 0.985 0.807 577 . . . . KIF13A 127 1 81 40 0.330578512396694 TRUE NA +ENSG00000196376.11 . BCM GRCh38.p13 chr6 117907775 117907775 + G G A Missense_Mutation SNP ENST00000360388.9 exon1 c.G49A p.A17T exonic ENSG00000196376.11 . nonsynonymous SNV ENSG00000196376.11:ENST00000360388.9:exon1:c.G49A:p.A17T 6q22.2 C3N-01524 . . . . . . . . . 2.18 T T B B . N N . N 0.070 T T D 0.046 0.153 0.040 0.571 D T T T T T 2.255 21.300 0.996 N N -0.473 1.230 -0.302 1.561 1.000 0.564 0.476 0.504 0.555 . 3.780 2.860 1.393 0.975 0.559 0.621 0.965 0.963 473 . . . . SLC35F1 203 0 113 8 0.0661157024793388 TRUE TRUE +ENSG00000131016.17 . BCM GRCh38.p13 chr6 151350999 151350999 + G G T Nonsense_Mutation SNP ENST00000402676.7 exon4 c.G2608T p.E870X exonic ENSG00000131016.17 . stopgain ENSG00000131016.17:ENST00000402676.7:exon4:c.G2608T:p.E870X 6q25.1 C3N-01524 . . . . . . . . . 3.6 . . . . N A . . . 0.396 . . . . . . . . . D D . . 6.113 35 0.996 N N 0.422 4.485 0.118 2.808 0.999 0.706 0.574 0.710 0.711 . 5.170 3.360 2.939 1.176 0.676 0.218 0.004 0.006 928 . . . . AKAP12 217 0 184 23 0.111111111111111 TRUE TRUE +ENSG00000112584.13 . BCM GRCh38.p13 chr6 170319028 170319028 + G G T Missense_Mutation SNP ENST00000476287.3 exon2 c.G1638T p.M546I exonic ENSG00000112584.13 . nonsynonymous SNV ENSG00000112584.13:ENST00000476287.3:exon2:c.G1638T:p.M546I 6q27 C3N-01524 . . . . . . . . . 1.20 T T P B N N M T N 0.156 T T T 0.015 0.426 0.257 0.197 T T T T T T 0.744 8.862 0.544 N N -0.694 0.823 -0.831 0.715 0.077 0.707 0.702 0.659 0.714 . 3.270 1.460 1.005 -0.602 -0.803 0.001 0.000 0.000 . . . . . FAM120B 90 0 86 16 0.156862745098039 NA TRUE +ENSG00000171243.8 . BCM GRCh38.p13 chr7 16465667 16465667 + A A G Translation_Start_Site SNP ENST00000307068.5 exon1 c.T2C p.M1? exonic ENSG00000171243.8 . startloss ENSG00000171243.8:ENST00000307068.5:exon1:c.T2C:p.M1? 7p21.2 C3N-01524 . . . . . . . . . 9.18 D D P P N D . T N 0.871 T T D 0.392 0.996 0.959 . . T D D D D 3.753 25.600 0.993 D N 0.592 5.843 0.655 6.988 1.000 0.598 0.574 0.535 0.639 . 5.930 5.930 7.603 1.312 0.756 1.000 1.000 0.997 938 . . . . SOSTDC1 167 0 110 48 0.30379746835443 TRUE TRUE +ENSG00000065883.16 . BCM GRCh38.p13 chr7 40078085 40078085 + A A C Missense_Mutation SNP ENST00000181839.10 exon10 c.A2861C p.K954T exonic ENSG00000065883.16 . nonsynonymous SNV ENSG00000065883.16:ENST00000181839.10:exon10:c.A2861C:p.K954T 7p14.1 C3N-01524 . . . . . . . . . 12.19 D D D D . D L T D 0.598 T T D 0.398 0.500 0.588 2.649 D T T T D D 4.169 28.400 0.998 D D 0.665 6.662 0.710 7.939 1.000 0.732 0.744 0.710 0.613 . 5.610 5.610 9.325 1.312 0.756 1.000 1.000 1.000 545 Protein_kinase_domain . . . CDK13 66 0 57 16 0.219178082191781 TRUE TRUE +ENSG00000106631.8 . BCM GRCh38.p13 chr7 44141010 44141010 + G G A Missense_Mutation SNP ENST00000223364.7 exon2 c.C68T p.S23F exonic ENSG00000106631.8 . nonsynonymous SNV ENSG00000106631.8:ENST00000223364.7:exon2:c.C68T:p.S23F 7p13 C3N-01524 . . . . . . . . . 19.20 D D D D D D H D D 0.806 D D D 0.817 0.496 0.965 0.319 T D D D D D 4.296 29.500 0.998 D D 0.915 11.434 0.815 10.587 0.999 0.713 0.590 0.609 0.542 . 5.690 4.790 7.498 1.079 0.665 1.000 1.000 0.999 749 . . . ID=COSV56267371;OCCURENCE=2(skin) MYL7 179 0 127 47 0.270114942528736 TRUE TRUE +ENSG00000042813.8 . BCM GRCh38.p13 chr7 50093192 50093192 + C C T Translation_Start_Site SNP ENST00000046087.7 exon1 c.G3A p.M1? exonic ENSG00000042813.8 . startloss ENSG00000042813.8:ENST00000046087.7:exon1:c.G3A:p.M1? 7p12.2 C3N-01524 . . . . . . . . . 9.18 D D P P D D . T N 0.693 T T D 0.314 0.950 0.535 . . T D D D D 3.415 24.400 0.968 N N 0.282 3.688 0.250 3.439 1.000 0.437 0.492 0.607 0.555 . 3.750 3.750 2.369 0.962 0.469 1.000 0.871 0.457 885 . . . . ZPBP 135 0 81 32 0.283185840707965 TRUE TRUE +ENSG00000106477.19 . BCM GRCh38.p13 chr7 130404601 130404601 + C C T Missense_Mutation SNP ENST00000223208.10 exon6 c.G385A p.A129T exonic ENSG00000106477.19 . nonsynonymous SNV ENSG00000106477.19:ENST00000223208.10:exon6:c.G385A:p.A129T 7q32.2 C3N-01524 8.238e-06 0 8.646e-05 0 0 0 0 0 rs782784827 2.20 T T B B N N N D N 0.128 T T D 0.248 0.135 0.478 0.068 T T T T T T -0.345 0.251 0.670 N N -1.393 0.120 -1.405 0.149 0.814 0.706 0.634 0.659 0.613 . 5.350 -2.790 -1.898 -0.468 -0.181 0.000 0.007 0.524 733 . . . ID=COSV56219159;OCCURENCE=1(endometrium) CEP41 340 0 279 104 0.27154046997389 TRUE TRUE +ENSG00000157800.18 . BCM GRCh38.p13 chr7 140358709 140358709 + T T C Missense_Mutation SNP ENST00000326232.14 exon6 c.A452G p.N151S exonic ENSG00000157800.18 . nonsynonymous SNV ENSG00000157800.18:ENST00000326232.14:exon6:c.A452G:p.N151S 7q34 C3N-01524 . . . . . . . . . 12.20 D T D D D D M T D 0.959 T T D 0.302 0.606 0.604 0.836 T T T T D D 3.875 26.200 0.996 D D 0.365 4.134 0.394 4.317 1.000 0.707 0.659 0.723 0.714 . 5.580 4.410 7.924 1.138 0.665 1.000 0.986 0.994 742 Major_facilitator_superfamily_domain . . . SLC37A3 274 0 158 46 0.225490196078431 TRUE TRUE +ENSG00000104756.16 . BCM GRCh38.p13 chr8 25436299 25436305 + ATTGGTG ATTGGTG - Frame_Shift_Del DEL ENST00000221200.9 exon8 c.593_599del p.S198Yfs*11 exonic ENSG00000104756.16 . frameshift deletion ENSG00000104756.16:ENST00000221200.9:exon8:c.593_599del:p.S198Yfs*11 8p21.2 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD9 265 0 174 36 0.171428571428571 TRUE TRUE +ENSG00000221829.10 . BCM GRCh38.p13 chr9 35079472 35079472 + T T G Missense_Mutation SNP ENST00000378643.8 exon1 c.A53C p.E18A exonic ENSG00000221829.10 . nonsynonymous SNV ENSG00000221829.10:ENST00000378643.8:exon1:c.A53C:p.E18A 9p13.3 C3N-01524 . . . . . . . . . 2.19 T T B B . D L T D 0.200 T T T 0.093 0.241 0.886 0.235 T T T T T T 2.705 22.800 0.978 N N -0.285 1.652 -0.160 1.885 1.000 0.733 0.522 0.601 0.581 . 4.960 3.740 1.871 1.138 0.665 0.309 1.000 0.887 94 . . . . FANCG 545 2 383 62 0.139325842696629 TRUE TRUE +ENSG00000148120.16 . BCM GRCh38.p13 chr9 95005584 95005584 + A A T Nonsense_Mutation SNP ENST00000375315.6 exon12 c.A2083T p.K695X exonic ENSG00000148120.16 . stopgain ENSG00000148120.16:ENST00000375315.6:exon12:c.A2083T:p.K695X 9q22.32 C3N-01524 . . . . . . . . . 6.7 . . . . D A . . . 0.292 . . . . . . . . . D D D . 8.457 43 0.995 D N 0.506 5.079 0.298 3.704 1.000 0.652 0.219 0.641 0.562 . 4.110 2.930 3.171 1.292 0.733 1.000 0.859 0.233 354 Peptidase_M1,_leukotriene_A4_hydrolase/aminopeptidase_C-terminal . . . AOPEP 259 0 126 55 0.303867403314917 TRUE TRUE +ENSG00000130713.16 . BCM GRCh38.p13 chr9 130703153 130703153 + A A T Missense_Mutation SNP ENST00000372358.10 exon8 c.A773T p.Y258F exonic ENSG00000130713.16 . nonsynonymous SNV ENSG00000130713.16:ENST00000372358.10:exon8:c.A773T:p.Y258F 9q34.12 C3N-01524 . . . . . . . . . 9.19 T T B B D D M . D 0.631 T T T 0.485 0.471 0.500 0.256 T T D T D D 2.782 23.000 0.975 D D 0.281 3.684 0.400 4.358 1.000 0.707 0.702 0.725 0.714 . 5.320 5.320 9.246 1.312 0.756 1.000 0.992 0.951 764 . . . . EXOSC2 140 0 84 16 0.16 TRUE TRUE +ENSG00000130723.20 . BCM GRCh38.p13 chr9 131473655 131473655 + T T C Missense_Mutation SNP ENST00000357304.8 exon14 c.T2255C p.L752P exonic ENSG00000130723.20 . nonsynonymous SNV ENSG00000130723.20:ENST00000357304.8:exon14:c.T2255C:p.L752P 9q34.13 C3N-01524 . . . . . . . . . 11.20 D D D P U D M T D 0.688 T T D 0.191 0.169 0.155 0.707 T T T T D D 3.711 25.400 0.999 D D 0.473 4.833 0.479 4.970 1.000 0.672 0.702 0.702 0.711 . 5.840 5.840 3.534 1.138 0.665 0.999 0.987 0.850 510 . . . . PRRC2B 281 0 179 33 0.155660377358491 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 17127834 17127834 + A A T Missense_Mutation SNP ENST00000377833.10 exon3 c.T343A p.S115T exonic ENSG00000107611.16 . nonsynonymous SNV ENSG00000107611.16:ENST00000377833.10:exon3:c.T343A:p.S115T 10p13 C3N-01524 . . . . . . . . . 2.20 T T B B N N L D N 0.255 T T T 0.215 0.499 0.762 0.078 T T T T T T 1.950 18.880 0.816 D N -0.426 1.326 -0.239 1.695 0.447 0.554 0.574 0.547 0.568 . 5.390 4.240 0.907 1.207 0.756 0.971 0.987 0.942 748 . . . . CUBN 70 0 103 28 0.213740458015267 TRUE TRUE +ENSG00000120549.18 . BCM GRCh38.p13 chr10 24531926 24531926 + - NA G Frame_Shift_Ins INS ENST00000376454.8 exon15 c.3180dupG p.L1062Tfs*21 exonic ENSG00000120549.18 . frameshift insertion ENSG00000120549.18:ENST00000376454.8:exon15:c.3180dupG:p.L1062Tfs*21 10p12.1 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA1217 NA NA NA NA NA NA NA +ENSG00000138182.14 . BCM GRCh38.p13 chr10 89725094 89725094 + T T A Missense_Mutation SNP ENST00000371728.7 exon15 c.T1937A p.V646D exonic ENSG00000138182.14 . nonsynonymous SNV ENSG00000138182.14:ENST00000371728.7:exon15:c.T1937A:p.V646D 10q23.31 C3N-01524 . . . . . . . . . 10.20 D D D P N D M T D 0.510 T T D 0.233 0.397 0.474 0.154 T T T T D T 4.196 28.600 0.986 D D 0.642 6.385 0.646 6.849 1.000 0.732 0.725 0.725 0.728 . 5.490 5.490 5.884 1.138 0.665 1.000 1.000 0.995 469 . . . . KIF20B 160 0 150 56 0.271844660194175 TRUE TRUE +ENSG00000138162.19 . BCM GRCh38.p13 chr10 122229403 122229403 + C C A Missense_Mutation SNP ENST00000369005.6 exon15 c.C7954A p.P2652T exonic ENSG00000138162.19 . nonsynonymous SNV ENSG00000138162.19:ENST00000369005.6:exon15:c.C7954A:p.P2652T 10q26.13 C3N-01524 . . . . . . . . . 5.20 D D D P N N N T D 0.406 T T T 0.153 0.485 0.347 0.506 T T T T T D 2.482 22.400 0.977 N N -0.524 1.130 -0.528 1.156 0.914 0.497 0.590 0.464 0.714 . 5.930 4.100 3.513 1.026 0.599 0.589 0.957 0.924 951 . . . . TACC2 278 0 165 42 0.202898550724638 TRUE TRUE +ENSG00000151640.13 . BCM GRCh38.p13 chr10 132196896 132196896 + G G A Missense_Mutation SNP ENST00000338492.9 exon5 c.G514A p.D172N exonic ENSG00000151640.13 . nonsynonymous SNV ENSG00000151640.13:ENST00000338492.9:exon5:c.G514A:p.D172N 10q26.3 C3N-01524 . . . . . . . . . 14.20 T T D D D D L D D 0.787 D D D 0.642 0.805 0.918 0.905 T D T T D D 3.710 25.400 0.999 D D 0.646 6.427 0.644 6.823 1.000 0.707 0.588 0.723 0.714 . 4.590 4.590 9.590 1.137 0.672 1.000 1.000 0.982 994 Amidohydrolase-related . . ID=COSV58308937;OCCURENCE=1(skin) DPYSL4 228 0 162 46 0.221153846153846 TRUE TRUE +ENSG00000072952.18 . BCM GRCh38.p13 chr11 10634034 10634034 + G G T Missense_Mutation SNP ENST00000531107.5 exon2 c.C236A p.P79H exonic ENSG00000072952.18 . nonsynonymous SNV ENSG00000072952.18:ENST00000531107.5:exon2:c.C236A:p.P79H 11p15.4 C3N-01524 . . . . . . . . . 11.16 D D . . D D . T D 0.870 T T D 0.232 0.287 0.663 0.468 T . D D D T 3.435 24.500 0.996 D D 0.473 4.829 0.424 4.535 0.999 0.615 0.590 0.659 0.479 . 4.860 4.860 5.718 1.176 0.676 1.000 0.065 0.349 494 . . . . MRVI1 150 0 120 40 0.25 TRUE TRUE +ENSG00000214872.8 . BCM GRCh38.p13 chr11 57546521 57546521 + C C G Missense_Mutation SNP ENST00000527972.5 exon6 c.C1209G p.F403L exonic ENSG00000214872.8 . nonsynonymous SNV ENSG00000214872.8:ENST00000527972.5:exon6:c.C1209G:p.F403L 11q12.1 C3N-01524 . . . . . . . . . 14.18 D D . . U D M T D 0.860 T T D 0.653 . 0.653 . D D D D D D 3.866 26.200 0.999 D D 0.649 6.458 0.582 6.001 0.976 0.497 0.514 0.547 0.542 . 4.740 3.800 2.704 1.026 0.599 1.000 1.000 0.997 0 Calponin_homology_domain . . . SMTNL1 129 0 108 48 0.307692307692308 TRUE TRUE +ENSG00000132744.8 . BCM GRCh38.p13 chr11 67646827 67646827 + A A C Missense_Mutation SNP ENST00000255082.8 exon3 c.T217G p.F73V exonic ENSG00000132744.8 . nonsynonymous SNV ENSG00000132744.8:ENST00000255082.8:exon3:c.T217G:p.F73V 11q13.2 C3N-01524 . . . . . . . . . 17.20 D D D P D D M D D 0.680 D D D 0.881 0.935 0.949 0.577 T D D D D T 3.330 24.200 0.980 D D 0.345 4.020 0.219 3.279 1.000 0.517 0.047 0.479 0.613 . 3.360 3.360 3.664 1.192 0.731 1.000 0.883 0.940 774 . . . . ACY3 242 0 112 34 0.232876712328767 TRUE TRUE +ENSG00000204571.6 . BCM GRCh38.p13 chr11 71582502 71582502 + G G T Nonsense_Mutation SNP ENST00000398530.1 exon1 c.C336A p.C112X exonic ENSG00000204571.6 . stopgain ENSG00000204571.6:ENST00000398530.1:exon1:c.C336A:p.C112X 11q13.4 C3N-01524 . . . . . . . . . 3.5 . . . . . D . . . 0.062 . . . . . . . . . D D . . 3.987 26.900 0.970 N N -0.352 1.489 -0.703 0.895 0.007 0.598 0.590 0.596 0.542 . 1.650 -1.880 0.031 -1.157 -0.439 0.002 0.001 0.019 454 . . . . KRTAP5-11 531 0 383 153 0.28544776119403 TRUE TRUE +ENSG00000111218.12 . BCM GRCh38.p13 chr12 3583203 3583203 + C C A Missense_Mutation SNP ENST00000382622.4 exon8 c.C974A p.S325Y exonic ENSG00000111218.12 . nonsynonymous SNV ENSG00000111218.12:ENST00000382622.4:exon8:c.C974A:p.S325Y 12p13.32 C3N-01524 . . . . . . . . . 19.20 D D D D D D H D D 0.968 D D D 0.903 0.624 0.936 2.723 D T D D D D 4.088 27.700 0.995 D D 0.945 12.285 0.831 11.117 1.000 0.554 0.590 0.602 0.564 . 5.550 5.550 7.867 1.026 0.599 1.000 1.000 0.994 945 . . . . PRMT8 112 0 48 26 0.351351351351351 TRUE TRUE +ENSG00000139182.15 . BCM GRCh38.p13 chr12 7149610 7149610 + G G A Missense_Mutation SNP ENST00000266546.11 exon14 c.G2162A p.R721Q exonic ENSG00000139182.15 . nonsynonymous SNV ENSG00000139182.15:ENST00000266546.11:exon14:c.G2162A:p.R721Q 12p13.31 C3N-01524 8.247e-06 0 0 0 0 1.5e-05 0 0 rs148818256 4.20 T T B B D D N T N 0.381 T T T 0.110 . 0.700 0.299 T T T T T T 2.052 19.650 0.422 D D -0.034 2.394 0.158 2.984 1.000 0.722 0.702 0.805 0.735 . 5.670 5.670 3.388 1.176 0.676 1.000 0.982 0.956 716 . . . ID=COSV99867096;OCCURENCE=1(central_nervous_system) CLSTN3 110 0 75 27 0.264705882352941 TRUE NA +ENSG00000187950.8 . BCM GRCh38.p13 chr12 29433756 29433756 + T T A Missense_Mutation SNP ENST00000318184.9 exon27 c.A3322T p.S1108C exonic ENSG00000187950.8 . nonsynonymous SNV ENSG00000187950.8:ENST00000318184.9:exon27:c.A3322T:p.S1108C 12p11.22 C3N-01524 . . . . . . . . . 3.14 D D . . . N . D N 0.155 T T T 0.222 0.288 0.680 0.240 T . T T T . 2.176 20.700 0.978 N N -0.630 0.933 -0.794 0.766 0.000 0.487 0.574 0.574 0.564 . 1.520 1.520 1.566 0.666 0.496 0.014 0.013 0.042 808 . . . . OVCH1 54 0 74 4 0.0512820512820513 TRUE NA +ENSG00000135519.8 . BCM GRCh38.p13 chr12 49550101 49550101 + G G - Frame_Shift_Del DEL ENST00000257981.7 exon10 c.1690delG p.E564Sfs*76 exonic ENSG00000135519.8 . frameshift deletion ENSG00000135519.8:ENST00000257981.7:exon10:c.1690delG:p.E564Sfs*76 12q13.12 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH3 50 0 56 18 0.243243243243243 TRUE TRUE +ENSG00000135519.8 . BCM GRCh38.p13 chr12 49550102 49550102 + - NA TCGCCAT Frame_Shift_Ins INS ENST00000257981.7 exon10 c.1691_1692insTCGCCAT p.E564Dfs*23 exonic ENSG00000135519.8 . frameshift insertion ENSG00000135519.8:ENST00000257981.7:exon10:c.1691_1692insTCGCCAT:p.E564Dfs*23 12q13.12 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH3 NA NA NA NA NA NA NA +ENSG00000139220.16 . BCM GRCh38.p13 chr12 81358155 81358155 + G G T Missense_Mutation SNP ENST00000549396.5 exon16 c.C1700A p.S567Y exonic ENSG00000139220.16 . nonsynonymous SNV ENSG00000139220.16:ENST00000549396.5:exon16:c.C1700A:p.S567Y 12q21.31 C3N-01524 . . . . . . . . . 9.20 D D B B D D L T D 0.676 T T T 0.190 0.362 0.248 0.464 T T T T D D 2.870 23.200 0.971 D D 0.180 3.215 0.386 4.264 1.000 0.487 0.574 0.574 0.564 . 5.620 5.620 9.356 1.172 0.614 1.000 1.000 0.996 799 . . . . PPFIA2 197 0 111 52 0.319018404907975 TRUE TRUE +ENSG00000134899.22 . BCM GRCh38.p13 chr13 102872277 102872277 + A A C Missense_Mutation SNP ENST00000652225.2 exon13 c.A2758C p.T920P exonic ENSG00000134899.22;ENSG00000270181.3 . nonsynonymous SNV ENSG00000134899.22:ENST00000652225.2:exon13:c.A2758C:p.T920P,ENSG00000270181.3:ENST00000639435.1:exon23:c.A4120C:p.T1374P 13q33.1 C3N-01524 . . . . . . . . . 2.19 D T B B N N N T N 0.318 T T T 0.039 0.450 0.384 0.186 . T T T T D 2.231 21.100 0.977 N N -0.531 1.117 -0.489 1.220 1.000 0.707 0.725 0.659 0.714 . 5.690 3.350 1.336 1.312 0.756 0.033 0.947 0.712 912 . . . . ERCC5 326 1 272 77 0.220630372492837 TRUE TRUE +ENSG00000126216.15 . BCM GRCh38.p13 chr13 112489650 112489650 + C C G Missense_Mutation SNP ENST00000261965.8 exon21 c.G2496C p.R832S exonic ENSG00000126216.15 . nonsynonymous SNV ENSG00000126216.15:ENST00000261965.8:exon21:c.G2496C:p.R832S 13q34 C3N-01524 . . . . . . . . . 9.20 D D P P D D M T D 0.674 T T T 0.205 0.415 0.544 0.776 T T T T D D 2.718 22.900 0.996 D N 0.180 3.218 0.152 2.956 1.000 0.706 0.725 0.710 0.714 . 5.250 5.250 1.996 0.130 0.599 0.999 0.754 0.220 . . . . . TUBGCP3 120 0 65 15 0.1875 TRUE TRUE +ENSG00000140015.20 . BCM GRCh38.p13 chr14 62981185 62981185 + T T G Missense_Mutation SNP ENST00000322893.12 exon6 c.A629C p.Y210S exonic ENSG00000140015.20 . nonsynonymous SNV ENSG00000140015.20:ENST00000322893.12:exon6:c.A629C:p.Y210S 14q23.2 C3N-01524 . . . . . . . . . 20.20 D D D D D D M D D 0.923 D D D 0.933 0.529 0.975 2.079 D D D D D D 4.118 27.900 0.991 D D 0.790 8.585 0.744 8.668 1.000 0.554 0.574 0.602 0.564 . 5.260 5.260 7.963 1.138 0.609 1.000 1.000 0.998 895 . . . . KCNH5 181 0 132 22 0.142857142857143 TRUE TRUE +ENSG00000080815.19 . BCM GRCh38.p13 chr14 73192817 73192817 + T T C Missense_Mutation SNP ENST00000324501.10 exon7 c.T722C p.L241P exonic ENSG00000080815.19 . nonsynonymous SNV ENSG00000080815.19:ENST00000324501.10:exon7:c.T722C:p.L241P 14q24.2 C3N-01524 . . . . . . . . . 20.20 D D D D D D H D D 0.977 D D D 0.966 0.701 0.992 1.861 D D D D D D 4.319 29.700 0.999 D D 0.933 11.950 0.873 12.640 1.000 0.719 0.723 0.710 0.714 . 5.690 5.690 7.882 1.071 0.502 1.000 0.968 0.985 788 . . . . PSEN1 300 0 194 51 0.208163265306122 TRUE TRUE +ENSG00000198894.8 . BCM GRCh38.p13 chr14 77114094 77114094 + A A T Nonsense_Mutation SNP ENST00000361786.7 exon4 c.A976T p.K326X exonic ENSG00000198894.8 . stopgain ENSG00000198894.8:ENST00000361786.7:exon4:c.A976T:p.K326X 14q24.3 C3N-01524 . . . . . . . . . 4.5 . . . . N D . . . 0.507 . . . . . . . . . D D . . 6.817 36 0.994 D . 0.686 6.931 0.543 5.578 1.000 0.672 0.654 0.702 0.636 . 5.880 4.670 3.527 1.312 0.756 0.990 0.894 0.161 931 . . . . CIPC 305 0 185 85 0.314814814814815 TRUE TRUE +ENSG00000179364.13 . BCM GRCh38.p13 chr14 105352411 105352411 + G G A Missense_Mutation SNP ENST00000325438.12 exon3 c.G241A p.V81M exonic ENSG00000179364.13 . nonsynonymous SNV ENSG00000179364.13:ENST00000325438.12:exon3:c.G241A:p.V81M 14q32.33 C3N-01524 . . . . . . . . . 4.20 T T B B U D L T N 0.247 T T T 0.025 0.296 0.043 . T T T T D D 2.320 21.700 0.976 D N -0.175 1.948 0.005 2.376 1.000 0.840 0.854 0.854 0.831 . 4.710 3.790 3.159 1.042 0.654 1.000 1.000 0.995 976 . . . . PACS2 176 0 74 39 0.345132743362832 TRUE NA +ENSG00000166963.13 . BCM GRCh38.p13 chr15 43525218 43525218 + C C T Missense_Mutation SNP ENST00000300231.6 exon4 c.C3745T p.H1249Y exonic ENSG00000166963.13 . nonsynonymous SNV ENSG00000166963.13:ENST00000300231.6:exon4:c.C3745T:p.H1249Y 15q15.3 C3N-01524 . . . . . . . . . 1.19 D T B B . N L T N 0.231 T T T 0.096 0.196 0.068 0.326 T T T T T T 1.050 12.240 0.928 N N -0.574 1.035 -0.622 1.013 1.000 0.615 0.588 0.659 0.580 . 4.980 4.070 0.194 1.026 0.599 0.000 0.002 0.005 19 . . . . MAP1A 201 0 141 11 0.0723684210526316 TRUE TRUE +ENSG00000157890.17 . BCM GRCh38.p13 chr15 65922359 65922359 + A A T Missense_Mutation SNP ENST00000409699.6 exon15 c.T1936A p.S646T exonic ENSG00000157890.17 . nonsynonymous SNV ENSG00000157890.17:ENST00000409699.6:exon15:c.T1936A:p.S646T 15q22.31 C3N-01524 . . . . . . . . . 2.20 T T B B U D N T N 0.222 T T T 0.096 0.496 0.251 0.089 T T T T T T 1.897 18.470 0.273 D N -0.543 1.094 -0.328 1.507 1.000 0.601 0.597 0.616 0.613 . 5.130 2.650 3.590 1.312 0.756 1.000 0.995 0.924 184 EGF-like_domain;Laminin_EGF_domain . . . MEGF11 230 0 125 22 0.149659863945578 TRUE TRUE +ENSG00000205923.3 . BCM GRCh38.p13 chr16 2530998 2530998 + G G T Missense_Mutation SNP ENST00000567119.1 exon1 c.C76A p.L26I exonic ENSG00000205923.3 . nonsynonymous SNV ENSG00000205923.3:ENST00000567119.1:exon1:c.C76A:p.L26I 16p13.3 C3N-01524 . . . . . . . . . 0.17 . . P B . N N T N 0.138 T T T 0.078 0.096 0.232 . T T T T T T 1.494 15.700 0.672 N N -0.840 0.598 -1.005 0.483 1.000 0.726 0.577 0.594 0.592 . 1.270 0.217 0.191 0.008 0.672 0.000 0.001 0.003 759 . . . . CEMP1 119 0 71 28 0.282828282828283 TRUE TRUE +ENSG00000103512.15 . BCM GRCh38.p13 chr16 14857321 14857321 + A A T Missense_Mutation SNP ENST00000287667.12 exon10 c.A1068T p.K356N exonic ENSG00000103512.15 . nonsynonymous SNV ENSG00000103512.15:ENST00000287667.12:exon10:c.A1068T:p.K356N 16p13.11 C3N-01524 . . . . . . . . . 7.20 T D B B D D M T N 0.504 T T T 0.086 0.517 0.294 . T T T T D D 4.085 27.600 0.989 D N -0.266 1.699 -0.214 1.753 0.227 0.732 0.744 0.725 0.714 . 3.070 3.070 5.297 1.126 0.270 1.000 0.999 0.463 824 . . . . NOMO1 108 0 62 30 0.326086956521739 NA TRUE +ENSG00000243716.10 . BCM GRCh38.p13 chr16 22534977 22534977 + T T A Missense_Mutation SNP ENST00000424340.5 exon7 c.T1994A p.M665K exonic ENSG00000243716.10 . nonsynonymous SNV ENSG00000243716.10:ENST00000424340.5:exon7:c.T1994A:p.M665K 16p12.2 C3N-01524 . . . . . . . . . 2.15 D D . . . N . T N 0.331 T T T 0.011 0.322 0.040 . . T T T T T 1.024 11.920 0.815 N N -1.048 0.355 -1.055 0.424 0.000 0.693 0.659 0.659 0.668 . . . 0.106 0.125 0.126 0.006 0.006 0.006 934 . . . . NPIPB5 1136 0 1090 79 0.067579127459367 NA TRUE +ENSG00000149930.18 . BCM GRCh38.p13 chr16 29983313 29983313 + C C G Missense_Mutation SNP ENST00000308893.9 exon12 c.C1241G p.S414C exonic ENSG00000149930.18 . nonsynonymous SNV ENSG00000149930.18:ENST00000308893.9:exon12:c.C1241G:p.S414C 16p11.2 C3N-01524 . . . . . . . . . 15.20 D D D D D D M T D 0.715 T T D 0.323 0.382 0.437 1.183 T D D T D D 3.870 26.200 0.991 D D 0.713 7.311 0.656 6.997 1.000 0.707 0.725 0.725 0.714 . 5.240 5.240 7.568 1.026 0.599 1.000 1.000 0.989 80 . . . . TAOK2 78 0 68 8 0.105263157894737 TRUE TRUE +ENSG00000103248.19 . BCM GRCh38.p13 chr16 86548466 86548466 + G G C Missense_Mutation SNP ENST00000360900.11 exon4 c.C349G p.Q117E exonic ENSG00000103248.19 . nonsynonymous SNV ENSG00000103248.19:ENST00000360900.11:exon4:c.C349G:p.Q117E 16q24.1 C3N-01524 . . . . . . . . . 7.19 D T D D N D . T N 0.439 T T T 0.221 0.486 0.429 0.042 T T T T D T 2.777 23.000 0.907 D D 0.357 4.089 0.275 3.575 0.971 0.651 0.654 0.659 0.684 . 4.980 1.800 4.658 1.176 0.676 1.000 0.986 0.954 950 . . . . MTHFSD 211 0 130 22 0.144736842105263 TRUE TRUE +ENSG00000174231.17 . BCM GRCh38.p13 chr17 1656561 1656561 + T T C Missense_Mutation SNP ENST00000304992.11 exon36 c.A5624G p.H1875R exonic ENSG00000174231.17 . nonsynonymous SNV ENSG00000174231.17:ENST00000304992.11:exon36:c.A5624G:p.H1875R 17p13.3 C3N-01524 . . . . . . . . . 19.20 D D D D D D H T D 0.940 D D D 0.900 0.530 0.855 2.740 D D D D D D 4.020 27.100 0.998 D D 0.910 11.324 0.851 11.824 1.000 0.707 0.702 0.725 0.714 . 5.620 5.620 8.017 1.138 0.665 1.000 0.998 0.993 661 PRP8_domain_IV_core . . ID=COSV59266339;OCCURENCE=1(large_intestine),1(kidney),1(endometrium) PRPF8 569 0 511 67 0.115916955017301 TRUE TRUE +ENSG00000179094.16 . BCM GRCh38.p13 chr17 8143860 8143860 + G G - Frame_Shift_Del DEL ENST00000317276.9 exon19 c.2478delC p.A827Hfs*89 exonic ENSG00000179094.16 . frameshift deletion ENSG00000179094.16:ENST00000317276.9:exon19:c.2478delC:p.A827Hfs*89 17p13.1 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PER1 105 0 39 6 0.133333333333333 TRUE TRUE +ENSG00000108551.5 . BCM GRCh38.p13 chr17 17495667 17495667 + C C G Missense_Mutation SNP ENST00000225688.4 exon2 c.G304C p.V102L exonic ENSG00000108551.5 . nonsynonymous SNV ENSG00000108551.5:ENST00000225688.4:exon2:c.G304C:p.V102L 17p11.2 C3N-01524 . . . . . . . . . 19.19 D D D D D D M D D 0.812 D D D 0.882 0.634 0.940 1.732 D D D D D D 4.153 28.200 0.997 D . 0.910 11.303 0.832 11.135 1.000 0.455 0.609 0.504 0.250 . 4.940 4.940 7.714 1.023 0.599 1.000 1.000 0.997 764 Small_GTP-binding_protein_domain . . . RASD1 70 0 48 16 0.25 TRUE TRUE +ENSG00000131899.11 . BCM GRCh38.p13 chr17 18242561 18242561 + A A T Missense_Mutation SNP ENST00000316843.9 exon21 c.A3049T p.T1017S exonic ENSG00000131899.11 . nonsynonymous SNV ENSG00000131899.11:ENST00000316843.9:exon21:c.A3049T:p.T1017S 17p11.2 C3N-01524 . . . . . . . . . 3.19 T T B B D N N T N 0.181 T T T 0.077 0.068 0.134 0.263 T T T T T . 1.896 18.460 0.931 D D -0.439 1.299 -0.173 1.853 1.000 0.672 0.694 0.702 0.711 . 5.780 4.700 6.367 0.324 0.756 1.000 0.810 0.959 183 . . . . LLGL1 197 0 121 36 0.229299363057325 TRUE TRUE +ENSG00000005379.17 . BCM GRCh38.p13 chr17 58307877 58307877 + C C T Missense_Mutation SNP ENST00000343736.9 exon23 c.G4796A p.G1599D exonic ENSG00000005379.17 . nonsynonymous SNV ENSG00000005379.17:ENST00000343736.9:exon23:c.G4796A:p.G1599D 17q22 C3N-01524 . . . . . . . . . 6.20 D T D D N N M T N 0.620 T T T 0.125 0.295 0.476 0.882 T T T T D D 1.648 16.680 0.997 N N 0.072 2.776 0.056 2.561 1.000 0.660 0.694 0.269 0.613 . 5.760 5.760 0.225 1.026 0.599 0.000 0.733 0.638 310 . . . . TSPOAP1 131 0 98 29 0.228346456692913 TRUE TRUE +ENSG00000184640.18 . BCM GRCh38.p13 chr17 77482248 77482248 + T T C Missense_Mutation SNP ENST00000427177.6 exon4 c.T826C p.F276L exonic ENSG00000184640.18 . nonsynonymous SNV ENSG00000184640.18:ENST00000427177.6:exon4:c.T826C:p.F276L 17q25.3 C3N-01524 . . . . . . . . . 13.20 T T D D D D M T N 0.890 T T D 0.135 0.294 0.657 1.580 D T D D D D 2.764 22.900 0.832 D D -0.019 2.445 0.077 2.642 1.000 0.707 0.702 0.725 0.714 . 5.080 3.990 4.009 1.129 0.652 1.000 0.963 0.937 994 . . . . SEPTIN9 367 0 275 108 0.281984334203655 TRUE TRUE +ENSG00000166569.8 . BCM GRCh38.p13 chr18 59296867 59296867 + - NA C Frame_Shift_Ins INS ENST00000299721.3 exon3 c.313dupG p.D105Gfs*8 exonic ENSG00000166569.8 . frameshift insertion ENSG00000166569.8:ENST00000299721.3:exon3:c.313dupG:p.D105Gfs*8 18q21.32 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPLX4 NA NA NA NA NA NA NA +ENSG00000176225.14 . BCM GRCh38.p13 chr18 70092148 70092148 + C C T Missense_Mutation SNP ENST00000640769.2 exon30 c.G4105A p.A1369T exonic ENSG00000176225.14 . nonsynonymous SNV ENSG00000176225.14:ENST00000640769.2:exon30:c.G4105A:p.A1369T 18q22.2 C3N-01524 . . . . . . . . . 4.20 T T B B N D L T N 0.270 T T D 0.044 0.383 0.310 0.088 T T T T D T 1.381 14.960 0.991 D N -0.176 1.943 -0.064 2.154 0.839 0.706 0.725 0.710 0.655 . 5.080 4.160 1.691 1.026 0.549 1.000 0.786 0.618 973 . . . . RTTN 127 1 110 35 0.241379310344828 TRUE TRUE +ENSG00000099622.14 . BCM GRCh38.p13 chr19 1271330 1271330 + - NA T Frame_Shift_Ins INS ENST00000588030.5 exon4 c.213dupT p.V72Cfs*45 exonic ENSG00000099622.14 . frameshift insertion ENSG00000099622.14:ENST00000588030.5:exon4:c.213dupT:p.V72Cfs*45 19p13.3 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CIRBP NA NA NA NA NA NA NA +ENSG00000189164.15 . BCM GRCh38.p13 chr19 37388531 37388531 + G G C Missense_Mutation SNP ENST00000436120.7 exon5 c.G482C p.R161T exonic ENSG00000189164.15 . nonsynonymous SNV ENSG00000189164.15:ENST00000436120.7:exon5:c.G482C:p.R161T 19q13.12 C3N-01524 . . . . . . . . . 1.17 . D B B . N L T . 0.227 T T T 0.001 0.390 0.107 0.276 T T T T T T 0.201 3.132 0.713 N N -1.004 0.400 -1.080 0.396 0.008 0.651 0.709 0.464 0.684 . 4.040 -0.498 -0.442 0.986 0.654 0.000 0.979 0.583 671 . . . ID=COSV62236139;OCCURENCE=1(urinary_tract),1(upper_aerodigestive_tract) ZNF527 134 0 134 68 0.336633663366337 TRUE TRUE +ENSG00000188766.12 . BCM GRCh38.p13 chr19 38396041 38396041 + G G T Missense_Mutation SNP ENST00000338502.8 exon5 c.G1129T p.V377L exonic ENSG00000188766.12 . nonsynonymous SNV ENSG00000188766.12:ENST00000338502.8:exon5:c.G1129T:p.V377L 19q13.2 C3N-01524 . . . . . . . . . 9.20 D D P P U D N T N 0.512 T T D 0.278 0.546 0.674 3.067 D T T T D D 4.051 27.400 0.992 D D 0.210 3.347 0.247 3.420 1.000 0.581 0.514 0.576 0.492 . 3.300 3.300 6.682 1.076 0.575 1.000 0.990 0.979 596 . . . . SPRED3 107 0 25 12 0.324324324324324 TRUE TRUE +ENSG00000105321.14 . BCM GRCh38.p13 chr19 47271493 47271493 + T T A Missense_Mutation SNP ENST00000221922.11 exon12 c.T1411A p.F471I exonic ENSG00000105321.14 . nonsynonymous SNV ENSG00000105321.14:ENST00000221922.11:exon12:c.T1411A:p.F471I 19q13.32 C3N-01524 . . . . . . . . . 0.20 T T B B N N L T N 0.169 T T T 0.019 0.173 0.120 0.143 T T T T T T 0.031 1.540 0.941 N N -1.393 0.120 -1.526 0.098 0.998 0.707 0.702 0.269 0.714 . 3.750 -7.500 -0.716 -0.231 0.597 0.000 0.000 0.019 706 . . . . CCDC9 147 0 111 42 0.274509803921569 TRUE TRUE +ENSG00000131864.10 . BCM GRCh38.p13 chr19 57130920 57130920 + C C G Missense_Mutation SNP ENST00000254181.8 exon4 c.C2245G p.Q749E exonic ENSG00000131864.10 . nonsynonymous SNV ENSG00000131864.10:ENST00000254181.8:exon4:c.C2245G:p.Q749E 19q13.43 C3N-01524 . . . . . . . . . 3.19 D D B B . N M T N 0.103 T T T 0.030 0.233 0.269 0.032 T T T T T T -0.031 1.151 0.697 N N -0.960 0.449 -1.089 0.387 0.000 0.487 0.574 0.574 0.564 . 1.490 0.337 0.269 0.926 0.549 0.009 0.003 0.095 952 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP29 162 1 84 39 0.317073170731707 TRUE TRUE +ENSG00000025293.17 . BCM GRCh38.p13 chr20 35871123 35871123 + A A - Frame_Shift_Del DEL ENST00000374012.8 exon8 c.1091delA p.E364Dfs*7 exonic ENSG00000025293.17 . frameshift deletion ENSG00000025293.17:ENST00000374012.8:exon8:c.1091delA:p.E364Dfs*7 20q11.23 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHF20 225 0 88 23 0.207207207207207 TRUE TRUE +ENSG00000171587.15 . BCM GRCh38.p13 chr21 40339389 40339389 + A A G Missense_Mutation SNP ENST00000400454.6 exon7 c.T1237C p.F413L exonic ENSG00000171587.15 . nonsynonymous SNV ENSG00000171587.15:ENST00000400454.6:exon7:c.T1237C:p.F413L 21q22.2 C3N-01524 . . . . . . . . . 15.20 D D D D D D L T D 0.836 T T D 0.485 0.609 0.865 1.599 D T D D D D 4.255 29.200 0.999 D D 0.672 6.749 0.709 7.923 1.000 0.487 0.574 0.590 0.564 . 5.730 5.730 9.159 1.307 0.686 1.000 1.000 0.998 969 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . DSCAM 154 0 108 18 0.142857142857143 TRUE TRUE +ENSG00000185651.15 . BCM GRCh38.p13 chr22 21592876 21592876 + C C G Missense_Mutation SNP ENST00000342192.9 exon2 c.C43G p.R15G exonic ENSG00000185651.15 . nonsynonymous SNV ENSG00000185651.15:ENST00000342192.9:exon2:c.C43G:p.R15G 22q11.21 C3N-01524 . . . . . . . . . 12.20 D T B B D D N T D 0.705 T T D 0.401 0.472 0.909 2.317 D T D D D D 3.504 24.700 0.995 D D -0.030 2.407 0.207 3.216 1.000 0.737 0.702 0.733 0.734 . 5.630 5.630 7.518 1.026 0.599 1.000 1.000 1.000 946 Ubiquitin-conjugating_enzyme_E2 . . . UBE2L3 105 0 130 12 0.0845070422535211 TRUE NA +ENSG00000211672.2 . BCM GRCh38.p13 chr22 22871983 22871983 + G G A Missense_Mutation SNP ENST00000390318.2 exon2 c.G319A p.A107T exonic ENSG00000211672.2 . nonsynonymous SNV ENSG00000211672.2:ENST00000390318.2:exon2:c.G319A:p.A107T 22q11.22 C3N-01524 2.499e-05 0 0 0.0001 0 3.019e-05 0 0 rs754142164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLV4-3 332 0 206 25 0.108225108225108 TRUE NA +ENSG00000077721.16 . BCM GRCh38.p13 chrX 119574978 119574978 + T T G Missense_Mutation SNP ENST00000371558.7 exon2 c.T122G p.F41C exonic ENSG00000077721.16 . nonsynonymous SNV ENSG00000077721.16:ENST00000371558.7:exon2:c.T122G:p.F41C Xq24 C3N-01524 . . . . . . . . . 14.19 D T D D D D M T D 0.814 T T D 0.527 0.455 0.874 3.805 D T D D D D 4.013 27.100 0.993 D . . . . . 1.000 . . . . . 4.870 4.870 5.944 1.127 0.649 1.000 0.997 0.990 175 Ubiquitin-conjugating_enzyme_E2 . . . UBE2A 164 1 93 81 0.46551724137931 TRUE TRUE +ENSG00000179023.8 . BCM GRCh38.p13 chr1 18482937 18482937 + G G A Silent SNP ENST00000400664.2 exon1 c.G1956A p.A652A exonic ENSG00000179023.8 . synonymous SNV ENSG00000179023.8:ENST00000400664.2:exon1:c.G1956A:p.A652A 1p36.13 C3N-01524 . . . . . . . . rs1035779858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHDC7A 262 0 150 65 0.302325581395349 TRUE NA +ENSG00000169991.11 . BCM GRCh38.p13 chr1 18911399 18911399 + C C T Silent SNP ENST00000455833.7 exon7 c.G1302A p.T434T exonic ENSG00000169991.11 . synonymous SNV ENSG00000169991.11:ENST00000455833.7:exon7:c.G1302A:p.T434T 1p36.13 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62913255;OCCURENCE=1(skin) IFFO2 155 0 79 23 0.225490196078431 TRUE TRUE +ENSG00000198626.17 . BCM GRCh38.p13 chr1 237655874 237655874 + G G A Silent SNP ENST00000366574.7 exon53 c.G8019A p.A2673A exonic ENSG00000198626.17 . synonymous SNV ENSG00000198626.17:ENST00000366574.7:exon53:c.G8019A:p.A2673A 1q43 C3N-01524 1.191e-05 0 0 0 0 2.192e-05 0 0 rs745484020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63711534;OCCURENCE=1(endometrium) RYR2 208 0 140 14 0.0909090909090909 TRUE TRUE +ENSG00000074047.21 . BCM GRCh38.p13 chr2 120989907 120989907 + C C T Silent SNP ENST00000452319.5 exon14 c.C3993T p.S1331S exonic ENSG00000074047.21 . synonymous SNV ENSG00000074047.21:ENST00000452319.5:exon14:c.C3993T:p.S1331S 2q14.2 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLI2 84 1 82 15 0.154639175257732 TRUE TRUE +ENSG00000115365.12 . BCM GRCh38.p13 chr2 210437774 210437774 + T T C Silent SNP ENST00000450366.7 exon7 c.A789G p.P263P exonic ENSG00000115365.12 . synonymous SNV ENSG00000115365.12:ENST00000450366.7:exon7:c.A789G:p.P263P 2q34 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52064312;OCCURENCE=2(large_intestine) LANCL1 133 0 88 25 0.221238938053097 TRUE TRUE +ENSG00000157087.20 . BCM GRCh38.p13 chr3 10360049 10360049 + C C A Silent SNP ENST00000360273.7 exon13 c.G1734T p.L578L exonic ENSG00000157087.20 . synonymous SNV ENSG00000157087.20:ENST00000360273.7:exon13:c.G1734T:p.L578L 3p25.3 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP2B2 153 0 64 32 0.333333333333333 TRUE TRUE +ENSG00000118007.13 . BCM GRCh38.p13 chr3 136568859 136568859 + G G T Silent SNP ENST00000383202.7 exon5 c.C300A p.S100S exonic ENSG00000118007.13 . synonymous SNV ENSG00000118007.13:ENST00000383202.7:exon5:c.C300A:p.S100S 3q22.3 C3N-01524 . . . . . . . . . 2.7 . . . . . D . . . 0.400 . . . . . 0.614 . . T T T . T 1.163 13.330 0.863 D N . . . . 0.156 0.732 0.744 0.659 0.613 . 5.500 -3.550 0.186 1.176 0.676 0.960 1.000 0.998 401 . . . . STAG1 197 2 139 70 0.334928229665072 TRUE TRUE +ENSG00000137449.16 . BCM GRCh38.p13 chr4 15003738 15003738 + C C G Silent SNP ENST00000538197.6 exon1 c.C1065G p.G355G exonic ENSG00000137449.16 . synonymous SNV ENSG00000137449.16:ENST00000538197.6:exon1:c.C1065G:p.G355G 4p15.32 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPEB2 70 0 54 3 0.0526315789473684 TRUE NA +ENSG00000109436.8 . BCM GRCh38.p13 chr4 140755986 140755986 + G G T Silent SNP ENST00000442267.3 exon1 c.C60A p.A20A exonic ENSG00000109436.8 . synonymous SNV ENSG00000109436.8:ENST00000442267.3:exon1:c.C60A:p.A20A 4q31.21 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D9 290 1 139 41 0.227777777777778 TRUE TRUE +ENSG00000113645.14 . BCM GRCh38.p13 chr5 168414348 168414348 + G G A Silent SNP ENST00000265293.8 exon9 c.G942A p.R314R exonic ENSG00000113645.14 . synonymous SNV ENSG00000113645.14:ENST00000265293.8:exon9:c.G942A:p.R314R 5q34 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54649621;OCCURENCE=1(stomach) WWC1 123 0 71 67 0.485507246376812 TRUE TRUE +ENSG00000198010.12 . BCM GRCh38.p13 chr8 1549476 1549476 + G G A Silent SNP ENST00000421627.7 exon5 c.G1020A p.K340K exonic ENSG00000198010.12 . synonymous SNV ENSG00000198010.12:ENST00000421627.7:exon5:c.G1020A:p.K340K 8p23.3 C3N-01524 1.703e-05 0.0002 0 0 0 0 0 0 rs371562156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DLGAP2 170 1 119 41 0.25625 TRUE NA +ENSG00000185972.6 . BCM GRCh38.p13 chr9 36170627 36170627 + G G A Silent SNP ENST00000335119.4 exon1 c.G1125A p.G375G exonic ENSG00000185972.6 . synonymous SNV ENSG00000185972.6:ENST00000335119.4:exon1:c.G1125A:p.G375G 9p13.3 C3N-01524 . . . . . . . . rs17851732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58725995;OCCURENCE=1(skin) CCIN 208 0 68 14 0.170731707317073 TRUE TRUE +ENSG00000107611.16 . BCM GRCh38.p13 chr10 17103215 17103215 + T T G Silent SNP ENST00000377833.10 exon13 c.A1440C p.G480G exonic ENSG00000107611.16 . synonymous SNV ENSG00000107611.16:ENST00000377833.10:exon13:c.A1440C:p.G480G 10p13 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUBN 313 0 239 88 0.269113149847095 TRUE TRUE +ENSG00000155254.13 . BCM GRCh38.p13 chr10 97714065 97714065 + C C T Silent SNP ENST00000285605.8 exon1 c.C189T p.F63F exonic ENSG00000155254.13 . synonymous SNV ENSG00000155254.13:ENST00000285605.8:exon1:c.C189T:p.F63F 10q24.2 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARVELD1 332 0 262 97 0.270194986072423 TRUE NA +ENSG00000110171.20 . BCM GRCh38.p13 chr11 6456805 6456805 + T T G Silent SNP ENST00000345851.8 exon6 c.A921C p.R307R exonic ENSG00000110171.20 . synonymous SNV ENSG00000110171.20:ENST00000345851.8:exon6:c.A921C:p.R307R 11p15.4 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM3 243 0 263 48 0.154340836012862 TRUE TRUE +ENSG00000062282.15 . BCM GRCh38.p13 chr11 75800364 75800364 + C C A Silent SNP ENST00000228027.12 exon8 c.C1023A p.P341P exonic ENSG00000062282.15 . synonymous SNV ENSG00000062282.15:ENST00000228027.12:exon8:c.C1023A:p.P341P 11q13.5 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGAT2 129 0 98 19 0.162393162393162 TRUE TRUE +ENSG00000120800.5 . BCM GRCh38.p13 chr12 101306029 101306029 + C C T Silent SNP ENST00000261637.5 exon16 c.C1896T p.P632P exonic ENSG00000120800.5 . synonymous SNV ENSG00000120800.5:ENST00000261637.5:exon16:c.C1896T:p.P632P 12q23.2 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTP20 149 0 87 24 0.216216216216216 TRUE TRUE +ENSG00000121270.15 . BCM GRCh38.p13 chr16 48216210 48216210 + G G A Silent SNP ENST00000394747.5 exon6 c.C855T p.C285C exonic ENSG00000121270.15 . synonymous SNV ENSG00000121270.15:ENST00000394747.5:exon6:c.C855T:p.C285C 16q12.1 C3N-01524 4.135e-05 0 0 0 0 3.009e-05 0 0.0002 rs138005798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100750500;OCCURENCE=1(large_intestine),1(endometrium) ABCC11 186 0 143 19 0.117283950617284 TRUE NA +ENSG00000276234.5 . BCM GRCh38.p13 chr17 37476949 37476949 + C C T Silent SNP ENST00000615182.5 exon16 c.C1299T p.F433F exonic ENSG00000276234.5 . synonymous SNV ENSG00000276234.5:ENST00000615182.5:exon16:c.C1299T:p.F433F 17q12 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TADA2A 120 0 75 26 0.257425742574257 TRUE TRUE +ENSG00000099783.12 . BCM GRCh38.p13 chr19 8485607 8485607 + A A G Silent SNP ENST00000325495.9 exon14 c.A1179G p.G393G exonic ENSG00000099783.12 . synonymous SNV ENSG00000099783.12:ENST00000325495.9:exon14:c.A1179G:p.G393G 19p13.2 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HNRNPM 82 0 68 4 0.0555555555555556 TRUE NA +ENSG00000171223.6 . BCM GRCh38.p13 chr19 12792152 12792152 + C C T Silent SNP ENST00000302754.6 exon1 c.C381T p.G127G exonic ENSG00000171223.6 . synonymous SNV ENSG00000171223.6:ENST00000302754.6:exon1:c.C381T:p.G127G 19p13.13 C3N-01524 0.0001 0 0 0 0 3.911e-05 0 0.0005 rs776344055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JUNB 125 0 81 33 0.289473684210526 TRUE NA +ENSG00000124257.6 . BCM GRCh38.p13 chr20 45888782 45888782 + A A G Silent SNP ENST00000372518.4 exon2 c.T834C p.L278L exonic ENSG00000124257.6 . synonymous SNV ENSG00000124257.6:ENST00000372518.4:exon2:c.T834C:p.L278L 20q13.12 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEURL2 145 0 84 42 0.333333333333333 TRUE TRUE +ENSG00000215568.9 . BCM GRCh38.p13 chr22 16963803 16963803 + G G A Silent SNP ENST00000400588.5 exon9 c.C1503T p.S501S exonic ENSG00000215568.9 . synonymous SNV ENSG00000215568.9:ENST00000400588.5:exon9:c.C1503T:p.S501S 22q11.1 C3N-01524 0.0001 0 0.0003 0 0 1.515e-05 0 0.0005 rs755347977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68754459;OCCURENCE=1(pancreas) GAB4 275 0 194 25 0.114155251141553 TRUE TRUE +ENSG00000169933.15 . BCM GRCh38.p13 chrX 12717964 12717964 + A A T Silent SNP ENST00000380682.5 exon16 c.A3138T p.G1046G exonic ENSG00000169933.15 . synonymous SNV ENSG00000169933.15:ENST00000380682.5:exon16:c.A3138T:p.G1046G Xp22.2 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRMPD4 145 0 49 63 0.5625 TRUE TRUE +ENSG00000130940.15 . BCM GRCh38.p13 chr1 10660614 10660620 + CCCATAG CCCATAG - Intron DEL NA NA NA NA intronic ENSG00000130940.15 . . . 1p36.22 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASZ1 59 0 39 20 0.338983050847458 TRUE NA +ENSG00000114491.14 . BCM GRCh38.p13 chr3 124745390 124745390 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000114491.14 ENST00000232607.7:c.*1306G>A . . 3q21.2 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UMPS 106 0 61 27 0.306818181818182 TRUE NA +ENSG00000105967.16 . BCM GRCh38.p13 chr7 116110733 116110733 + G G T IGR SNP NA NA NA NA intergenic ENSG00000105967.16;ENSG00000279086.1 dist=79970;dist=98501 . . 7q31.2 C3N-01524 . . . . . . . . . 4.5 . . . . . A . . . 0.600 . . . . . . . . . D D . . 6.127 35 0.996 D N 0.639 6.346 0.467 4.872 0.979 0.516 0.610 0.574 0.564 . 5.050 2.870 2.477 1.176 0.671 1.000 0.972 0.992 658 . . . . TFEC 57 0 49 15 0.234375 TRUE TRUE +ENSG00000269900.3 . BCM GRCh38.p13 chr9 35657800 35657800 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000269900.3;ENSG00000277027.1 . . . 9p13.3 C3N-01524 . . . . . . . . rs936059863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RMRP 92 0 86 16 0.156862745098039 TRUE NA +ENSG00000104812.15 . BCM GRCh38.p13 chr19 48968370 48968370 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000104812.15 ENST00000323798.8:c.*918A>G . . 19q13.33 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GYS1 491 0 367 143 0.280392156862745 TRUE NA +ENSG00000124164.16 . BCM GRCh38.p13 chr20 58450405 58450405 + A A G 3'UTR SNP NA NA NA NA UTR3 ENSG00000124164.16 ENST00000475243.6:c.*6170A>G . . 20q13.32 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAPB 362 0 372 46 0.110047846889952 TRUE NA +ENSG00000101204.17 . BCM GRCh38.p13 chr20 63343554 63343554 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000101204.17 ENST00000370263.9:c.*3184G>T . . 20q13.33 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHRNA4 256 0 264 35 0.117056856187291 TRUE NA +ENSG00000101204.17 . BCM GRCh38.p13 chr20 63343561 63343561 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000101204.17 ENST00000370263.9:c.*3177C>T . . 20q13.33 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHRNA4 246 0 235 39 0.142335766423358 TRUE NA +ENSG00000095383.20 . BCM GRCh38.p13 chr9 98255182 98255183 + AA AA TT Unknown MNP ENST00000465784.7 exon1 c.359_360delinsAA p.I120K exonic ENSG00000095383.20 . nonframeshift substitution ENSG00000095383.20:ENST00000465784.7:exon1:c.359_360delinsAA:p.I120K 9q22.33 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D2 70 0 52 17 0.246376811594203 TRUE TRUE +ENSG00000171723.15 . BCM GRCh38.p13 chr14 67143376 67143377 + TC TC AA Unknown MNP ENST00000315266.9 exon17 c.1664_1665delinsAA p.L555Q exonic ENSG00000171723.15 . nonframeshift substitution ENSG00000171723.15:ENST00000315266.9:exon17:c.1664_1665delinsAA:p.L555Q 14q23.3 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPHN 314 0 214 54 0.201492537313433 TRUE TRUE +ENSG00000133313.15 . BCM GRCh38.p13 chr18 74516297 74516298 + GG GG AT Unknown MNP ENST00000324262.9 exon9 c.973_974delinsAT p.G325M exonic ENSG00000133313.15 . nonframeshift substitution ENSG00000133313.15:ENST00000324262.9:exon9:c.973_974delinsAT:p.G325M 18q22.3 C3N-01524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNDP2 123 0 74 22 0.229166666666667 TRUE TRUE +ENSG00000142632.17 . BCM GRCh38.p13 chr1 16208798 16208798 + T T A Missense_Mutation SNP ENST00000270747.8 exon2 c.A257T p.D86V exonic ENSG00000142632.17 . nonsynonymous SNV ENSG00000142632.17:ENST00000270747.8:exon2:c.A257T:p.D86V 1p36.13 C3N-01646 . . . . . . . . . 5.20 D T D D N N L T N 0.471 T T D 0.174 0.163 0.836 0.840 T T T T D T 2.447 22.300 0.990 N N -0.054 2.326 -0.165 1.873 1.000 0.635 0.547 0.644 0.542 . 4.930 3.760 0.620 1.134 0.661 0.083 0.733 0.298 198 . . . . ARHGEF19 171 0 102 30 0.227272727272727 TRUE TRUE +ENSG00000121753.12 . BCM GRCh38.p13 chr1 31730888 31730888 + C C T Missense_Mutation SNP ENST00000373658.7 exon29 c.G4292A p.S1431N exonic ENSG00000121753.12 . nonsynonymous SNV ENSG00000121753.12:ENST00000373658.7:exon29:c.G4292A:p.S1431N 1p35.2 C3N-01646 . . . . . . . . rs903699702 6.19 T T P P D D . T N 0.216 T T T 0.122 0.182 0.217 0.814 T T T T D D 2.821 23.100 0.995 D D 0.122 2.972 0.174 3.061 1.000 0.696 0.590 0.723 0.563 . 5.740 4.830 3.169 1.026 0.599 1.000 0.985 0.986 583 . . . . ADGRB2 22 0 14 8 0.363636363636364 TRUE NA +ENSG00000127603.29 . BCM GRCh38.p13 chr1 39370037 39370037 + G G T Missense_Mutation SNP ENST00000372915.7 exon50 c.G12961T p.D4321Y exonic ENSG00000127603.29 . nonsynonymous SNV ENSG00000127603.29:ENST00000372915.7:exon50:c.G12961T:p.D4321Y 1p34.3 C3N-01646 . . . . . . . . . 11.19 D D D D N D . T D 0.659 T T T 0.282 0.312 0.299 . T D T T D D 4.672 32 0.994 D D 0.413 4.428 0.510 5.254 1.000 0.707 0.725 0.702 0.714 . 5.480 5.480 7.221 1.176 0.618 1.000 1.000 0.996 588 . . . . MACF1 99 0 69 26 0.273684210526316 TRUE TRUE +ENSG00000132128.16 . BCM GRCh38.p13 chr1 46281271 46281271 + A A G Missense_Mutation SNP ENST00000617190.4 exon5 c.T1610C p.L537P exonic ENSG00000132128.16 . nonsynonymous SNV ENSG00000132128.16:ENST00000617190.4:exon5:c.T1610C:p.L537P 1p34.1 C3N-01646 . . . . . . . . . 11.20 D D B B N D N T D 0.881 T T D 0.323 0.507 0.744 1.906 D T D D D T 3.291 24.100 0.999 D D -0.134 2.069 0.054 2.553 1.000 0.672 0.702 0.698 0.711 . 5.420 4.280 2.697 1.312 0.756 1.000 1.000 0.996 101 . . . . LRRC41 444 0 358 97 0.213186813186813 TRUE TRUE +ENSG00000162385.11 . BCM GRCh38.p13 chr1 53227100 53227100 + A A G Missense_Mutation SNP ENST00000371470.8 exon5 c.T386C p.L129P exonic ENSG00000162385.11 . nonsynonymous SNV ENSG00000162385.11:ENST00000371470.8:exon5:c.T386C:p.L129P 1p32.3 C3N-01646 . . . . . . . . . 18.19 D D D D D D M . D 0.976 D D D 0.738 0.717 0.924 3.640 D D D D D T 4.338 29.900 0.999 D D 0.741 7.739 0.677 7.341 0.992 0.732 0.744 0.744 0.728 . 6.170 5.040 8.915 1.307 0.751 1.000 1.000 0.999 429 . . . . MAGOH 175 0 57 24 0.296296296296296 TRUE TRUE +ENSG00000171517.6 . BCM GRCh38.p13 chr1 84865661 84865661 + C C A Missense_Mutation SNP ENST00000370611.4 exon2 c.G460T p.A154S exonic ENSG00000171517.6 . nonsynonymous SNV ENSG00000171517.6:ENST00000370611.4:exon2:c.G460T:p.A154S 1p22.3 C3N-01646 . . . . . . . . . 6.20 D T P P D D L T N 0.291 T T T 0.161 0.658 0.318 0.214 T T T T D T 2.232 21.100 0.997 D D 0.456 4.714 0.477 4.958 1.000 0.706 0.588 0.710 0.542 . 5.650 5.650 4.034 1.026 0.599 1.000 0.982 0.656 774 GPCR,_rhodopsin-like,_7TM . . . LPAR3 272 0 227 59 0.206293706293706 TRUE TRUE +ENSG00000122482.21 . BCM GRCh38.p13 chr1 90916811 90916811 + T T A Missense_Mutation SNP ENST00000337393.10 exon6 c.A3971T p.E1324V exonic ENSG00000122482.21 . nonsynonymous SNV ENSG00000122482.21:ENST00000337393.10:exon6:c.A3971T:p.E1324V 1p22.2 C3N-01646 . . . . . . . . . 12.20 D D D P D D L T D 0.538 D T D 0.274 0.289 0.264 0.715 T T T T D D 3.485 24.700 0.972 D D 0.376 4.200 0.500 5.156 1.000 0.706 0.725 0.710 0.714 . 5.800 5.800 7.417 1.138 0.665 1.000 1.000 0.983 883 . . . . ZNF644 347 0 304 65 0.176151761517615 TRUE TRUE +ENSG00000162669.16 . BCM GRCh38.p13 chr1 91396392 91396392 + C C G Missense_Mutation SNP ENST00000370425.8 exon3 c.G85C p.E29Q exonic ENSG00000162669.16 . nonsynonymous SNV ENSG00000162669.16:ENST00000370425.8:exon3:c.G85C:p.E29Q 1p22.2 C3N-01646 . . . . . . . . . 6.19 D T P B . D M T N 0.150 T T D 0.098 0.076 0.250 0.125 T T T T D T 2.277 21.400 0.987 D N 0.190 3.259 0.223 3.297 0.000 0.554 0.574 0.602 0.564 . 5.630 4.530 0.694 1.026 0.597 0.905 0.987 0.980 408 . . . . HFM1 61 0 27 11 0.289473684210526 TRUE TRUE +ENSG00000158481.13 . BCM GRCh38.p13 chr1 158292229 158292229 + G G T Missense_Mutation SNP ENST00000368170.8 exon3 c.G474T p.L158F exonic ENSG00000158481.13 . nonsynonymous SNV ENSG00000158481.13:ENST00000368170.8:exon3:c.G474T:p.L158F 1q23.1 C3N-01646 . . . . . . . . . 0.20 T T B B N N N T N 0.167 T T T 0.009 0.376 0.128 0.030 T T T T T T 0.445 5.923 0.719 N N -1.223 0.211 -1.299 0.209 1.000 0.693 0.659 0.547 0.564 . 3.920 -2.870 -0.256 0.025 0.654 0.000 0.001 0.003 878 MHC_class_I-like_antigen_recognition-like . . ID=COSV100939472;OCCURENCE=1(stomach) CD1C 379 1 317 78 0.19746835443038 TRUE TRUE +ENSG00000143322.21 . BCM GRCh38.p13 chr1 179126396 179126396 + T T C Missense_Mutation SNP ENST00000502732.6 exon4 c.A668G p.N223S exonic ENSG00000143322.21 . nonsynonymous SNV ENSG00000143322.21:ENST00000502732.6:exon4:c.A668G:p.N223S 1q25.2 C3N-01646 . . . . . . . . . 14.20 T T D D D D N D D 0.773 D D D 0.379 0.546 0.944 1.161 T D T T D D 2.511 22.400 0.992 D D -0.072 2.264 0.130 2.861 1.000 0.646 0.546 0.609 0.723 . 5.500 5.500 7.941 1.138 0.609 1.000 1.000 0.968 495 Tyrosine-protein_kinase_ABL,_SH2_domain;SH2_domain . . . ABL2 76 0 98 44 0.309859154929577 TRUE TRUE +ENSG00000153029.14 . BCM GRCh38.p13 chr1 181052264 181052264 + G G C Missense_Mutation SNP ENST00000614012.4 exon5 c.G634C p.E212Q exonic ENSG00000153029.14 . nonsynonymous SNV ENSG00000153029.14:ENST00000614012.4:exon5:c.G634C:p.E212Q 1q25.3 C3N-01646 . . . . . . . . . 2.20 D T P P N N L T N 0.241 T T T 0.083 0.643 0.072 0.206 T T T T D T 3.511 24.700 0.995 N N -0.136 2.063 -0.212 1.758 0.636 0.461 0.577 0.578 0.542 . 4.550 2.510 1.255 1.089 0.676 0.547 0.949 0.993 847 Immunoglobulin-like_domain . . . MR1 141 0 134 56 0.294736842105263 TRUE TRUE +ENSG00000009790.15 . BCM GRCh38.p13 chr1 209775678 209775678 + T T A Missense_Mutation SNP ENST00000367025.8 exon11 c.T995A p.L332H exonic ENSG00000009790.15 . nonsynonymous SNV ENSG00000009790.15:ENST00000367025.8:exon11:c.T995A:p.L332H 1q32.2 C3N-01646 . . . . . . . . . 13.20 D D D D N N M D D 0.760 T D D 0.479 0.208 0.914 0.649 T T D D D T 3.787 25.800 0.983 D N 0.418 4.457 0.340 3.959 1.000 0.646 0.696 0.547 0.613 . 4.780 4.780 3.078 1.138 0.665 0.726 0.538 0.479 866 . . . . TRAF3IP3 97 0 81 23 0.221153846153846 TRUE TRUE +ENSG00000136643.12 . BCM GRCh38.p13 chr1 213129617 213129617 + C C G Missense_Mutation SNP ENST00000366960.8 exon6 c.C563G p.S188C exonic ENSG00000136643.12 . nonsynonymous SNV ENSG00000136643.12:ENST00000366960.8:exon6:c.C563G:p.S188C 1q32.3 C3N-01646 . . . . . . . . . 14.20 D D D D D D M T D 0.702 T T D 0.192 0.234 0.773 0.406 T T D T D D 3.622 25.100 0.992 D D 0.638 6.337 0.664 7.133 1.000 0.706 0.670 0.659 0.613 . 5.540 5.540 5.025 1.026 0.549 1.000 0.991 0.997 819 . . . . RPS6KC1 191 0 136 36 0.209302325581395 TRUE TRUE +ENSG00000162946.23 . BCM GRCh38.p13 chr1 231818496 231818496 + G G A Missense_Mutation SNP ENST00000439617.8 exon9 c.G1960A p.E654K exonic ENSG00000162946.23 . nonsynonymous SNV ENSG00000162946.23:ENST00000439617.8:exon9:c.G1960A:p.E654K 1q42.2 C3N-01646 . . . . . . . . . 4.20 D D P B N N L T N 0.291 T T T 0.057 0.287 0.331 0.157 T T T T T D 1.927 18.700 0.989 D N -0.316 1.575 -0.339 1.486 1.000 0.516 0.610 0.602 0.492 . 4.970 0.692 1.236 1.176 0.618 0.999 0.370 0.990 832 . . . . DISC1 172 0 171 35 0.169902912621359 TRUE NA +ENSG00000054267.22 . BCM GRCh38.p13 chr1 235182461 235182461 + T T C Missense_Mutation SNP ENST00000264183.9 exon20 c.A2458G p.I820V exonic ENSG00000054267.22 . nonsynonymous SNV ENSG00000054267.22:ENST00000264183.9:exon20:c.A2458G:p.I820V 1q42.3 C3N-01646 . . . . . . . . . 0.20 T T B B N N N T N 0.058 T T T 0.021 0.267 0.103 0.197 T T T T T T 0.268 3.916 0.521 N N -1.042 0.361 -0.946 0.559 0.177 0.732 0.725 0.725 0.728 . 5.960 1.460 0.615 -0.207 -0.201 0.000 0.988 0.986 963 . . . . ARID4B 122 0 59 12 0.169014084507042 NA TRUE +ENSG00000158019.20 . BCM GRCh38.p13 chr2 27929876 27929876 + T T C Missense_Mutation SNP ENST00000342045.6 exon4 c.T173C p.L58P exonic ENSG00000158019.20 . nonsynonymous SNV ENSG00000158019.20:ENST00000342045.6:exon4:c.T173C:p.L58P 2p23.2 C3N-01646 . . . . . . . . . 15.19 D D D D D D . T D 0.987 T T D 0.659 0.862 0.613 1.496 D T D D D D 4.197 28.600 0.999 D D 0.686 6.930 0.651 6.928 1.000 0.732 0.744 0.710 0.613 . 5.040 5.040 6.466 1.138 0.665 1.000 0.997 0.985 175 . . . . BABAM2 225 0 196 54 0.216 TRUE TRUE +ENSG00000198914.5 . BCM GRCh38.p13 chr2 104856922 104856922 + A A T Missense_Mutation SNP ENST00000361360.4 exon1 c.A1412T p.Q471L exonic ENSG00000198914.5 . nonsynonymous SNV ENSG00000198914.5:ENST00000361360.4:exon1:c.A1412T:p.Q471L 2q12.1 C3N-01646 . . . . . . . . . 5.20 T T B B U D L D N 0.245 T T D 0.258 0.389 0.660 . D T T T T T 2.344 21.800 0.928 D N -0.406 1.371 -0.257 1.655 1.000 0.598 0.492 0.607 0.639 . 3.890 3.890 2.436 1.268 0.699 1.000 0.971 0.865 917 . . . . POU3F3 333 0 256 76 0.228915662650602 TRUE TRUE +ENSG00000186522.15 . BCM GRCh38.p13 chr2 109593100 109593100 + G G T Missense_Mutation SNP ENST00000397712.7 exon2 c.C50A p.A17E exonic ENSG00000186522.15 . nonsynonymous SNV ENSG00000186522.15:ENST00000397712.7:exon2:c.C50A:p.A17E 2q13 C3N-01646 . . . . . . . . . 2.20 D D P B N N L T N 0.275 T T T 0.041 0.267 0.449 0.012 T T T T T T 1.646 16.670 0.895 N N -0.916 0.500 -0.947 0.557 0.977 0.757 0.858 0.710 0.728 . 3.670 1.840 1.567 0.053 -0.227 0.014 0.057 0.683 853 Septin-type_guanine_nucleotide-binding_(G)_domain . . . SEPTIN10 40 0 28 3 0.0967741935483871 TRUE NA +ENSG00000116117.18 . BCM GRCh38.p13 chr2 205615805 205615805 + G G T Missense_Mutation SNP ENST00000406610.7 exon23 c.G3610T p.A1204S exonic ENSG00000116117.18 . nonsynonymous SNV ENSG00000116117.18:ENST00000406610.7:exon23:c.G3610T:p.A1204S 2q33.3 C3N-01646 . . . . . . . . . 11.20 D D D D D D M T N 0.663 T T T 0.196 0.271 0.622 0.182 T T T T D D 2.843 23.100 0.997 D D 0.697 7.079 0.682 7.436 1.000 0.624 0.590 0.602 0.580 . 5.870 5.870 7.562 1.176 0.676 1.000 0.863 0.535 882 . . . . PARD3B 117 0 91 5 0.0520833333333333 TRUE NA +ENSG00000187736.12 . BCM GRCh38.p13 chr2 219078129 219078129 + G G - Frame_Shift_Del DEL ENST00000356853.9 exon6 c.666delC p.T223Hfs*32 exonic ENSG00000187736.12 . frameshift deletion ENSG00000187736.12:ENST00000356853.9:exon6:c.666delC:p.T223Hfs*32 2q35 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NHEJ1 393 1 297 85 0.222513089005236 TRUE TRUE +ENSG00000134072.11 . BCM GRCh38.p13 chr3 9759743 9759743 + A A T Missense_Mutation SNP ENST00000256460.8 exon9 c.T753A p.D251E exonic ENSG00000134072.11 . nonsynonymous SNV ENSG00000134072.11:ENST00000256460.8:exon9:c.T753A:p.D251E 3p25.3 C3N-01646 . . . . . . . . . 9.20 D T B B D D L T D 0.754 T T D 0.239 0.690 0.461 0.758 D T T T D D 1.516 15.840 0.990 D N -0.298 1.619 -0.285 1.596 0.646 0.732 0.744 0.644 0.714 . 5.710 -0.506 0.169 -0.232 -0.208 0.977 0.997 0.992 649 Protein_kinase_domain . . . CAMK1 193 0 137 40 0.225988700564972 TRUE TRUE +ENSG00000114316.13 . BCM GRCh38.p13 chr3 49294528 49294528 + T T A Nonsense_Mutation SNP ENST00000265560.9 exon14 c.A1762T p.K588X exonic ENSG00000114316.13 . stopgain ENSG00000114316.13:ENST00000265560.9:exon14:c.A1762T:p.K588X 3p21.31 C3N-01646 . . . . . . . . . 5.7 . . . . N A . . . 0.554 . . . . . . . . . D D D . 7.700 39 0.995 D N 0.946 12.315 0.816 10.604 1.000 0.707 0.702 0.725 0.617 . 5.730 5.730 3.783 1.138 0.665 1.000 1.000 0.992 1 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP4 192 0 94 38 0.287878787878788 TRUE TRUE +ENSG00000145041.15 . BCM GRCh38.p13 chr3 51443873 51443873 + C C A Missense_Mutation SNP ENST00000423656.5 exon6 c.G406T p.A136S exonic ENSG00000145041.15 . nonsynonymous SNV ENSG00000145041.15:ENST00000423656.5:exon6:c.G406T:p.A136S 3p21.2 C3N-01646 . . . . . . . . . 13.19 D T D D D D . T N 0.742 T T D 0.293 0.402 0.537 . T D D D D D 3.587 25.000 0.998 D D 0.771 8.248 0.806 10.302 1.000 0.732 0.744 0.710 0.613 . 6.030 6.030 7.568 1.026 0.599 1.000 1.000 0.998 4 . . . . DCAF1 146 0 93 5 0.0510204081632653 TRUE TRUE +ENSG00000163930.10 . BCM GRCh38.p13 chr3 52409591 52409593 + CTT CTT - In_Frame_Del DEL ENST00000460680.6 exon3 c.83_85del p.Q28_V29delinsL exonic ENSG00000163930.10 . nonframeshift deletion ENSG00000163930.10:ENST00000460680.6:exon3:c.83_85del:p.Q28_V29delinsL 3p21.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAP1 614 1 342 144 0.296296296296296 TRUE TRUE +ENSG00000175166.17 . BCM GRCh38.p13 chr3 184306456 184306456 + G G T Missense_Mutation SNP ENST00000310118.9 exon15 c.G1911T p.K637N exonic ENSG00000175166.17 . nonsynonymous SNV ENSG00000175166.17:ENST00000310118.9:exon15:c.G1911T:p.K637N 3q27.1 C3N-01646 . . . . . . . . . 9.20 T T D D D D M T N 0.510 T T T 0.133 0.264 0.701 1.013 T T T T D D 3.103 23.600 0.997 D D 0.344 4.013 0.412 4.448 0.624 0.719 0.723 0.725 0.714 . 5.640 4.750 1.285 1.176 0.676 1.000 1.000 0.998 775 . . . . PSMD2 55 1 99 17 0.146551724137931 TRUE TRUE +ENSG00000156096.14 . BCM GRCh38.p13 chr4 69486657 69486657 + C C T Missense_Mutation SNP ENST00000305107.7 exon4 c.G1042A p.G348R exonic ENSG00000156096.14 . nonsynonymous SNV ENSG00000156096.14:ENST00000305107.7:exon4:c.G1042A:p.G348R 4q13.3 C3N-01646 . . . . . . . . . 10.20 D D D D U N H T D 0.661 T D T 0.105 0.701 0.427 0.038 T T T T D D 2.131 20.300 0.996 N D -0.031 2.403 -0.369 1.430 0.005 0.487 0.574 0.574 0.564 . 1.970 1.970 1.298 0.895 0.545 0.003 0.017 0.005 934 . . . . UGT2B4 105 0 46 6 0.115384615384615 NA TRUE +ENSG00000145431.11 . BCM GRCh38.p13 chr4 156772888 156772888 + G G C Missense_Mutation SNP ENST00000502773.6 exon4 c.C501G p.F167L exonic ENSG00000145431.11 . nonsynonymous SNV ENSG00000145431.11:ENST00000502773.6:exon4:c.C501G:p.F167L 4q32.1 C3N-01646 . . . . . . . . . 1.20 T T B B N N N T N 0.070 T T T 0.019 0.344 0.143 0.363 T T T T T T 1.678 16.880 0.502 D N -0.829 0.614 -0.653 0.967 1.000 0.706 0.574 0.618 0.613 . 5.580 2.860 0.601 1.176 0.676 0.998 1.000 0.999 848 . . . . PDGFC 203 0 211 39 0.156 TRUE TRUE +ENSG00000109738.11 . BCM GRCh38.p13 chr4 157136828 157136828 + T T - Frame_Shift_Del DEL ENST00000264428.9 exon6 c.552delT p.L185Wfs*3 exonic ENSG00000109738.11 . frameshift deletion ENSG00000109738.11:ENST00000264428.9:exon6:c.552delT:p.L185Wfs*3 4q32.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLRB 271 0 160 47 0.227053140096618 TRUE TRUE +ENSG00000169862.19 . BCM GRCh38.p13 chr5 11236770 11236770 + T T A Missense_Mutation SNP ENST00000304623.13 exon10 c.A1682T p.H561L exonic ENSG00000169862.19 . nonsynonymous SNV ENSG00000169862.19:ENST00000304623.13:exon10:c.A1682T:p.H561L 5p15.2 C3N-01646 . . . . . . . . . 17.20 D D D D D D M T D 0.801 T T D 0.517 0.499 0.673 1.628 D D D D D D 3.952 26.700 0.978 D D 0.770 8.219 0.750 8.812 1.000 0.638 0.574 0.653 0.564 . 5.810 5.810 8.017 1.138 0.665 1.000 0.995 0.984 925 . . . . CTNND2 291 0 188 57 0.23265306122449 TRUE TRUE +ENSG00000183111.12 . BCM GRCh38.p13 chr5 149618951 149618951 + A A C Missense_Mutation SNP ENST00000333677.7 exon7 c.A803C p.E268A exonic ENSG00000183111.12 . nonsynonymous SNV ENSG00000183111.12:ENST00000333677.7:exon7:c.A803C:p.E268A 5q32 C3N-01646 . . . . . . . . . 9.20 T T P P D D M T N 0.390 T T D 0.190 0.547 0.366 0.394 T T D D D D 4.118 27.900 0.978 D N 0.407 4.385 0.492 5.086 1.000 0.002 0.587 0.506 0.297 . 6.020 6.020 5.762 1.312 0.756 1.000 1.000 0.997 781 BAR_domain . . . ARHGEF37 91 0 94 23 0.196581196581197 TRUE NA +ENSG00000165671.20 . BCM GRCh38.p13 chr5 177295215 177295227 + AGTTGGTAACCAC AGTTGGTAACCAC - Frame_Shift_Del DEL ENST00000439151.6 exon23 c.7847_7859del p.L2617Sfs*19 exonic ENSG00000165671.20 . frameshift deletion ENSG00000165671.20:ENST00000439151.6:exon23:c.7847_7859del:p.L2617Sfs*19 5q35.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NSD1 420 0 205 45 0.18 TRUE TRUE +ENSG00000219607.4 . BCM GRCh38.p13 chr6 5086302 5086303 + GA GA - Frame_Shift_Del DEL ENST00000405617.4 exon1 c.817_818del p.E273Afs*40 exonic ENSG00000219607.4 . frameshift deletion ENSG00000219607.4:ENST00000405617.4:exon1:c.817_818del:p.E273Afs*40 6p25.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R3G 297 0 222 63 0.221052631578947 TRUE TRUE +ENSG00000112139.16 . BCM GRCh38.p13 chr6 37644542 37644542 + A A G Missense_Mutation SNP ENST00000434837.8 exon13 c.T2356C p.S786P exonic ENSG00000112139.16 . nonsynonymous SNV ENSG00000112139.16:ENST00000434837.8:exon13:c.T2356C:p.S786P 6p21.2 C3N-01646 . . . . . . . . . 10.20 D D D D N D M T N 0.575 T T T 0.160 0.518 0.375 0.789 T T T T D D 4.120 27.900 0.998 D D 0.602 5.948 0.576 5.931 1.000 0.601 0.610 0.602 0.620 . 5.180 5.180 3.141 1.312 0.756 1.000 0.997 0.993 890 MAM_domain . . . MDGA1 48 0 40 13 0.245283018867925 TRUE TRUE +ENSG00000112195.9 . BCM GRCh38.p13 chr6 41192465 41192465 + C C T Missense_Mutation SNP ENST00000483722.2 exon5 c.G928A p.G310R exonic ENSG00000112195.9 . nonsynonymous SNV ENSG00000112195.9:ENST00000483722.2:exon5:c.G928A:p.G310R 6p21.1 C3N-01646 . . . . . . . . . 0.20 T T B B N N N T N 0.068 T T T 0.004 0.189 0.269 0.249 T T T T T T -0.275 0.352 0.569 N N -1.548 0.068 -1.613 0.071 0.998 0.732 0.744 0.573 0.542 . 4.450 -6.460 -1.536 -0.585 -0.130 0.000 0.044 0.688 900 . . . . TREML2 218 0 215 36 0.143426294820717 TRUE TRUE +ENSG00000001561.7 . BCM GRCh38.p13 chr6 46141121 46141121 + T T C Missense_Mutation SNP ENST00000321037.5 exon3 c.T896C p.I299T exonic ENSG00000001561.7 . nonsynonymous SNV ENSG00000001561.7:ENST00000321037.5:exon3:c.T896C:p.I299T 6p21.1 C3N-01646 . . . . . . . . . 17.20 D D D D D D M T D 0.910 D D D 0.814 0.786 0.863 0.518 T T D D D D 3.999 27.000 0.999 D D 0.880 10.552 0.865 12.329 1.000 0.638 0.634 0.653 0.621 . 6.160 6.160 7.674 1.138 0.665 1.000 0.932 0.972 550 . . . . ENPP4 161 0 52 14 0.212121212121212 TRUE TRUE +ENSG00000112077.17 . BCM GRCh38.p13 chr6 49615684 49615684 + G G C Missense_Mutation SNP ENST00000371175.10 exon4 c.C580G p.L194V exonic ENSG00000112077.17 . nonsynonymous SNV ENSG00000112077.17:ENST00000371175.10:exon4:c.C580G:p.L194V 6p12.3 C3N-01646 . . . . . . . . . 7.20 D T B B D N M T D 0.571 T T D 0.187 0.391 0.185 0.698 T T T T D D 1.219 13.780 0.947 N N -0.581 1.023 -0.658 0.960 0.000 0.487 0.574 0.547 0.542 . 5.760 0.837 0.676 0.047 0.676 0.272 0.003 0.056 779 Ammonium_transporter_AmtB-like_domain . . . RHAG 357 0 340 90 0.209302325581395 TRUE TRUE +ENSG00000154269.15 . BCM GRCh38.p13 chr6 131746826 131746826 + C C A Missense_Mutation SNP ENST00000357639.8 exon25 c.C2498A p.T833K exonic ENSG00000154269.15 . nonsynonymous SNV ENSG00000154269.15:ENST00000357639.8:exon25:c.C2498A:p.T833K 6q23.2 C3N-01646 . . . . . . . . . 0.20 T T B B N N N T N 0.046 T T T 0.108 0.387 0.231 0.071 T T T T T T 0.889 10.320 0.241 N N -1.355 0.137 -1.190 0.292 0.576 0.487 0.574 0.574 0.613 . 5.630 3.160 2.582 -0.075 -0.846 0.600 0.032 0.237 878 Extracellular_Endonuclease,_subunit_A;DNA/RNA_non-specific_endonuclease . . . ENPP3 258 0 117 46 0.282208588957055 TRUE TRUE +ENSG00000106392.11 . BCM GRCh38.p13 chr7 7243542 7243542 + G G T Missense_Mutation SNP ENST00000436587.7 exon4 c.G907T p.D303Y exonic ENSG00000106392.11 . nonsynonymous SNV ENSG00000106392.11:ENST00000436587.7:exon4:c.G907T:p.D303Y 7p21.3 C3N-01646 . . . . . . . . . 16.20 D D D D D D M T D 0.906 T T D 0.584 0.592 0.621 0.552 T D D D D D 4.633 32 0.996 D D 0.915 11.440 0.869 12.472 1.000 0.732 0.744 0.725 0.613 . 4.880 4.880 9.898 1.176 0.676 1.000 1.000 0.997 839 . . . . C1GALT1 47 0 41 3 0.0681818181818182 TRUE NA +ENSG00000146674.15 . BCM GRCh38.p13 chr7 45920836 45920836 + C C A Missense_Mutation SNP ENST00000275521.10 exon1 c.G305T p.R102L exonic ENSG00000146674.15 . nonsynonymous SNV ENSG00000146674.15:ENST00000275521.10:exon1:c.G305T:p.R102L 7p12.3 C3N-01646 . . . . . . . . . 8.20 D D D P N N L T D 0.217 T T D 0.061 0.348 0.787 1.181 D D T T D T 3.586 25.000 0.993 N N -0.250 1.740 -0.303 1.558 1.000 0.685 0.590 0.674 0.604 . 3.550 2.640 -0.068 0.120 0.527 0.000 0.068 0.764 923 Insulin-like_growth_factor-binding_protein,_IGFBP . . . IGFBP3 56 0 32 8 0.2 TRUE TRUE +ENSG00000181072.11 . BCM GRCh38.p13 chr7 137015497 137015498 + GA GA - Frame_Shift_Del DEL ENST00000445907.6 exon3 c.632_633del p.A212Qfs*34 exonic ENSG00000181072.11 . frameshift deletion ENSG00000181072.11:ENST00000445907.6:exon3:c.632_633del:p.A212Qfs*34 7q33 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHRM2 498 0 444 116 0.207142857142857 TRUE TRUE +ENSG00000104643.10 . BCM GRCh38.p13 chr8 11306346 11306346 + G G A Missense_Mutation SNP ENST00000221086.8 exon5 c.G748A p.G250S exonic ENSG00000104643.10 . nonsynonymous SNV ENSG00000104643.10:ENST00000221086.8:exon5:c.G748A:p.G250S 8p23.1 C3N-01646 . . . . . . . . . 16.20 T T D P D D M D D 0.825 D D D 0.828 0.555 0.932 0.037 T D D D D D 3.711 25.500 0.999 D D 0.897 10.974 0.871 12.554 1.000 0.707 0.725 0.725 0.711 . 5.680 5.680 9.814 1.176 0.676 1.000 1.000 0.997 928 Myotubularin-like_phosphatase_domain . . . MTMR9 368 0 348 78 0.183098591549296 TRUE TRUE +ENSG00000168615.12 . BCM GRCh38.p13 chr8 39082668 39082668 + G G T Missense_Mutation SNP ENST00000487273.7 exon17 c.G1909T p.A637S exonic ENSG00000168615.12 . nonsynonymous SNV ENSG00000168615.12:ENST00000487273.7:exon17:c.G1909T:p.A637S 8p11.22 C3N-01646 . . . . . . . . . 6.20 T T P P D D L T N 0.286 T T T 0.141 0.605 0.399 0.966 T T T T D D 3.852 26.100 0.996 D D 0.413 4.425 0.545 5.599 1.000 0.732 0.744 0.659 0.728 . 5.760 5.760 7.130 1.155 0.676 1.000 1.000 1.000 682 ADAM,_cysteine-rich . . . ADAM9 223 2 131 7 0.0507246376811594 TRUE NA +ENSG00000164893.9 . BCM GRCh38.p13 chr8 86217703 86217703 + G G T Missense_Mutation SNP ENST00000297524.8 exon3 c.C946A p.L316I exonic ENSG00000164893.9 . nonsynonymous SNV ENSG00000164893.9:ENST00000297524.8:exon3:c.C946A:p.L316I 8q21.3 C3N-01646 . . . . . . . . . 2.20 T T B B N N N D N 0.056 T T D 0.178 0.532 0.203 0.008 T T T T T T -0.605 0.071 0.291 N N -1.797 0.024 -1.722 0.047 0.000 0.487 0.574 0.574 0.564 . 5.270 -1.500 0.030 -0.612 -1.858 0.000 0.005 0.001 534 . . . . SLC7A13 178 0 133 34 0.203592814371257 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112587119 112587119 + C C T Missense_Mutation SNP ENST00000297405.10 exon23 c.G3832A p.G1278R exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon23:c.G3832A:p.G1278R 8q23.3 C3N-01646 . . . . . . . . . 15.20 D D D D D D N T D 0.917 T T D 0.423 0.516 0.382 0.734 D T D D D D 3.957 26.700 0.999 D D 0.415 4.438 0.443 4.677 1.000 0.554 0.574 0.574 0.621 . 4.080 4.080 7.905 1.026 0.549 1.000 0.998 0.998 855 CUB_domain . . . CSMD3 169 0 75 11 0.127906976744186 TRUE TRUE +ENSG00000104537.17 . BCM GRCh38.p13 chr8 123702676 123702676 + T T G Missense_Mutation SNP ENST00000419625.6 exon3 c.A152C p.Q51P exonic ENSG00000104537.17 . nonsynonymous SNV ENSG00000104537.17:ENST00000419625.6:exon3:c.A152C:p.Q51P 8q24.13 C3N-01646 . . . . . . . . . 9.20 D T P P D D M T D 0.706 T T T 0.178 0.582 0.510 0.381 T T T T D D 2.930 23.300 0.989 D D 0.355 4.079 0.332 3.911 1.000 0.487 0.590 0.574 0.542 . 5.280 5.280 4.100 1.138 0.665 1.000 0.909 0.737 961 Annexin_repeat,_conserved_site . . . ANXA13 178 0 148 31 0.173184357541899 TRUE TRUE +ENSG00000178685.14 . BCM GRCh38.p13 chr8 143986224 143986224 + C C A Missense_Mutation SNP ENST00000313028.12 exon2 c.G12T p.M4I exonic ENSG00000178685.14 . nonsynonymous SNV ENSG00000178685.14:ENST00000313028.12:exon2:c.G12T:p.M4I 8q24.3 C3N-01646 . . . . . . . . . 6.20 D T D P N N M T N 0.467 T T T 0.075 0.310 0.685 0.161 D T T T D T 2.473 22.300 0.985 D N -0.096 2.188 -0.236 1.702 1.000 0.652 0.522 0.604 0.710 . 4.150 3.230 -0.338 1.026 0.597 0.000 0.247 0.041 970 . . . . PARP10 125 0 125 27 0.177631578947368 TRUE TRUE +ENSG00000179832.17 . BCM GRCh38.p13 chr8 144239746 144239746 + T T C Missense_Mutation SNP ENST00000528919.5 exon17 c.T1765C p.Y589H exonic ENSG00000179832.17 . nonsynonymous SNV ENSG00000179832.17:ENST00000528919.5:exon17:c.T1765C:p.Y589H 8q24.3 C3N-01646 . . . . . . . . . 1.20 T T B B N N N T D 0.242 T T T 0.050 0.568 0.043 0.280 T T T T T T 0.921 10.660 0.934 N N -0.860 0.571 -0.831 0.715 0.000 0.693 0.659 0.653 0.668 . 4.610 -2.560 0.016 0.018 0.665 0.000 0.988 0.955 929 . . . . MROH1 143 0 130 36 0.216867469879518 TRUE TRUE +ENSG00000159884.12 . BCM GRCh38.p13 chr9 35658695 35658695 + - NA C Frame_Shift_Ins INS ENST00000426546.7 exon2 c.226_227insC p.V76Afs*15 exonic ENSG00000159884.12 . frameshift insertion ENSG00000159884.12:ENST00000426546.7:exon2:c.226_227insC:p.V76Afs*15 9p13.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC107 NA NA NA NA NA NA NA +ENSG00000107562.16 . BCM GRCh38.p13 chr10 44380837 44380837 + G G C Missense_Mutation SNP ENST00000374429.6 exon2 c.C105G p.F35L exonic ENSG00000107562.16 . nonsynonymous SNV ENSG00000107562.16:ENST00000374429.6:exon2:c.C105G:p.F35L 10q11.21 C3N-01646 . . . . . . . . . 6.19 D T B B D N . T D 0.618 T T T 0.196 0.460 0.251 0.137 T T T T D D 1.206 13.680 0.889 N D -1.190 0.234 -1.227 0.261 1.000 0.507 0.588 0.658 0.564 . 5.470 -7.500 -0.330 -0.127 -0.773 0.642 0.997 0.986 871 Chemokine_interleukin-8-like_domain;CXC_Chemokine_domain . . ID=COSV59108018;OCCURENCE=1(kidney) CXCL12 203 0 229 50 0.17921146953405 TRUE TRUE +ENSG00000107738.20 . BCM GRCh38.p13 chr10 71760873 71760877 + CTATC CTATC - Nonsense_Mutation DEL ENST00000394957.8 exon3 c.559_563del p.D187* exonic ENSG00000107738.20 . stopgain ENSG00000107738.20:ENST00000394957.8:exon3:c.559_563del:p.D187* 10q22.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VSIR 228 0 202 46 0.185483870967742 TRUE TRUE +ENSG00000197748.13 . BCM GRCh38.p13 chr10 104207819 104207819 + T T - Frame_Shift_Del DEL ENST00000357060.8 exon6 c.741delA p.D248Mfs*30 exonic ENSG00000197748.13 . frameshift deletion ENSG00000197748.13:ENST00000357060.8:exon6:c.741delA:p.D248Mfs*30 10q25.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP43 94 0 62 20 0.24390243902439 TRUE TRUE +ENSG00000165752.17 . BCM GRCh38.p13 chr10 132307721 132307721 + G G C Missense_Mutation SNP ENST00000298630.8 exon1 c.C113G p.P38R exonic ENSG00000165752.17 . nonsynonymous SNV ENSG00000165752.17:ENST00000298630.8:exon1:c.C113G:p.P38R 10q26.3 C3N-01646 . . . . . . . . . 5.19 T T D P . D N T N 0.250 T T D 0.166 0.197 0.658 1.192 D T T T T T 2.144 20.400 0.947 D N -0.448 1.282 -0.582 1.074 1.000 0.564 0.492 0.504 0.555 . 1.290 1.290 -0.055 0.806 0.482 0.002 0.014 0.004 994 . . . . STK32C 34 0 22 6 0.214285714285714 TRUE TRUE +ENSG00000198546.15 . BCM GRCh38.p13 chr10 133309784 133309784 + C C T Missense_Mutation SNP ENST00000361518.10 exon3 c.C236T p.A79V exonic ENSG00000198546.15;ENSG00000283496.1 . nonsynonymous SNV ENSG00000198546.15:ENST00000361518.10:exon3:c.C236T:p.A79V 10q26.3 C3N-01646 8.318e-06 0 0 0 0 1.52e-05 0 0 rs746249082 6.20 T T P B D N L D N 0.231 T T D 0.315 0.392 0.525 0.381 T T T T D T 2.650 22.700 0.981 D D -0.258 1.719 -0.224 1.730 1.000 0.707 0.663 0.686 0.714 . 5.270 2.770 3.608 0.081 -0.233 1.000 0.445 0.062 994 . . . ID=COSV100756872;OCCURENCE=1(lung) ZNF511 202 0 206 76 0.269503546099291 TRUE NA +ENSG00000177697.19 . BCM GRCh38.p13 chr11 836333 836333 + C C T Missense_Mutation SNP ENST00000397420.9 exon4 c.C167T p.T56I exonic ENSG00000177697.19 . nonsynonymous SNV ENSG00000177697.19:ENST00000397420.9:exon4:c.C167T:p.T56I 11p15.5 C3N-01646 . . . . . . . . . 10.20 D T B B D D M T D 0.232 T D D 0.395 0.484 0.857 0.202 T T T T D T 2.374 22.000 0.996 D D 0.040 2.657 0.107 2.763 1.000 0.722 0.644 0.644 0.735 . 4.580 4.580 3.836 0.130 -0.176 0.997 0.811 0.301 856 . . . . CD151 164 0 126 21 0.142857142857143 TRUE TRUE +ENSG00000184956.16 . BCM GRCh38.p13 chr11 1016414 1016414 + G G - Frame_Shift_Del DEL ENST00000421673.7 exon31 c.6387delC p.S2130Hfs*46 exonic ENSG00000184956.16 . frameshift deletion ENSG00000184956.16:ENST00000421673.7:exon31:c.6387delC:p.S2130Hfs*46 11p15.5 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC6 135 0 178 45 0.201793721973094 TRUE TRUE +ENSG00000148926.10 . BCM GRCh38.p13 chr11 10306390 10306390 + C C T Nonsense_Mutation SNP ENST00000278175.10 exon4 c.C307T p.Q103X exonic ENSG00000148926.10 . stopgain ENSG00000148926.10:ENST00000278175.10:exon4:c.C307T:p.Q103X 11p15.4 C3N-01646 . . . . . . . . . 6.14 D D . . . D . T N 0.481 T T . 0.068 0.318 0.851 . . T T T D T 7.206 37 0.998 D D 0.940 12.124 0.796 9.994 1.000 0.583 0.541 0.522 0.562 . 5.580 5.580 2.720 1.026 0.599 1.000 0.715 0.997 570 . . . . ADM 264 0 228 59 0.205574912891986 TRUE TRUE +ENSG00000179119.15 . BCM GRCh38.p13 chr11 18614861 18614861 + A A T Missense_Mutation SNP ENST00000336349.6 exon3 c.T1413A p.S471R exonic ENSG00000179119.15 . nonsynonymous SNV ENSG00000179119.15:ENST00000336349.6:exon3:c.T1413A:p.S471R 11p15.1 C3N-01646 . . . . . . . . . 4.20 D T B B N D M T N 0.152 T T T 0.016 0.368 0.082 0.295 T T T T T T 2.293 21.500 0.994 D N -0.454 1.269 -0.389 1.393 1.000 0.732 0.699 0.744 0.636 . 5.880 2.080 0.167 1.312 0.756 0.000 0.938 0.832 607 . . . . SPTY2D1 68 0 73 21 0.223404255319149 TRUE TRUE +ENSG00000165970.12 . BCM GRCh38.p13 chr11 20617766 20617766 + A A T Missense_Mutation SNP ENST00000525748.6 exon7 c.A1142T p.K381M exonic ENSG00000165970.12 . nonsynonymous SNV ENSG00000165970.12:ENST00000525748.6:exon7:c.A1142T:p.K381M 11p15.1 C3N-01646 . . . . . . . . . 9.20 D D B B D D L T N 0.547 T T D 0.526 0.483 0.881 0.665 T T T T D D 4.220 28.800 0.994 D D 0.274 3.646 0.388 4.276 1.000 0.487 0.563 0.573 0.564 . 4.820 4.820 8.831 1.312 0.756 1.000 1.000 0.999 788 . . . . SLC6A5 392 0 422 117 0.217068645640074 TRUE TRUE +ENSG00000167987.11 . BCM GRCh38.p13 chr11 61133324 61133324 + - NA G Frame_Shift_Ins INS ENST00000301765.10 exon4 c.278dupC p.A94Sfs*27 exonic ENSG00000167987.11 . frameshift insertion ENSG00000167987.11:ENST00000301765.10:exon4:c.278dupC:p.A94Sfs*27 11q12.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS37C NA NA NA NA NA NA NA +ENSG00000162231.14 . BCM GRCh38.p13 chr11 62794267 62794267 + C C G Missense_Mutation SNP ENST00000294172.7 exon19 c.G1751C p.W584S exonic ENSG00000162231.14 . nonsynonymous SNV ENSG00000162231.14:ENST00000294172.7:exon19:c.G1751C:p.W584S 11q12.3 C3N-01646 . . . . . . . . . 17.20 D D D D D D M T D 0.829 T T D 0.691 0.874 0.837 2.298 D D D D D D 4.405 31 0.989 D D 0.924 11.686 0.859 12.088 1.000 0.707 0.698 0.702 0.714 . 5.210 5.210 7.538 1.026 0.599 1.000 1.000 0.999 764 TAP_C-terminal_(TAP-C)_domain . . . NXF1 79 0 63 28 0.307692307692308 TRUE TRUE +ENSG00000048649.13 . BCM GRCh38.p13 chr11 77701500 77701500 + T T A Nonsense_Mutation SNP ENST00000308488.10 exon6 c.A1729T p.K577X exonic ENSG00000048649.13 . stopgain ENSG00000048649.13:ENST00000308488.10:exon6:c.A1729T:p.K577X 11q14.1 C3N-01646 . . . . . . . . . 4.6 . . . . N A . . . 0.691 . . . . . . . . . D D . . 6.936 36 0.995 D N 0.736 7.655 0.606 6.299 0.973 0.745 0.732 0.744 0.728 . 5.230 5.230 1.947 1.138 0.665 1.000 0.978 0.995 530 . . . . RSF1 212 0 167 42 0.200956937799043 TRUE TRUE +ENSG00000123892.12 . BCM GRCh38.p13 chr11 88175285 88175285 + A A G Missense_Mutation SNP ENST00000243662.11 exon1 c.T100C p.F34L exonic ENSG00000123892.12 . nonsynonymous SNV ENSG00000123892.12:ENST00000243662.11:exon1:c.T100C:p.F34L 11q14.2 C3N-01646 . . . . . . . . . 18.20 D D P P D D M D D 0.669 D D D 0.851 0.925 0.916 0.374 D D D D D D 4.411 31 0.999 D D 0.622 6.159 0.628 6.590 1.000 0.726 0.522 0.594 0.665 . 5.100 5.100 9.215 1.312 0.756 1.000 1.000 0.998 900 Small_GTP-binding_protein_domain . . . RAB38 378 1 280 62 0.181286549707602 TRUE TRUE +ENSG00000173208.4 . BCM GRCh38.p13 chr12 39618759 39618759 + G G A Missense_Mutation SNP ENST00000308666.4 exon1 c.C857T p.A286V exonic ENSG00000173208.4 . nonsynonymous SNV ENSG00000173208.4:ENST00000308666.4:exon1:c.C857T:p.A286V 12q12 C3N-01646 . . . . . . . . . 19.20 D D D D D D M D D 0.777 D D D 0.905 0.747 0.989 1.428 T D D D D D 4.073 27.500 0.999 D D 0.943 12.229 0.874 12.676 1.000 0.487 0.522 0.574 0.530 . 5.520 5.520 9.421 1.176 0.676 1.000 0.968 0.938 789 ABC_transporter_type_1,_transmembrane_domain . . . ABCD2 173 1 198 55 0.217391304347826 TRUE TRUE +ENSG00000066084.13 . BCM GRCh38.p13 chr12 50505190 50505202 + CGCCTGAAGTGCG CGCCTGAAGTGCG - Frame_Shift_Del DEL ENST00000301180.10 exon1 c.50_62del p.P17Rfs*134 exonic ENSG00000066084.13 . frameshift deletion ENSG00000066084.13:ENST00000301180.10:exon1:c.50_62del:p.P17Rfs*134 12q13.12 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIP2B 364 0 231 45 0.16304347826087 TRUE NA +ENSG00000196876.18 . BCM GRCh38.p13 chr12 51688793 51688793 + C C T Missense_Mutation SNP ENST00000354534.11 exon6 c.C650T p.S217L exonic ENSG00000196876.18 . nonsynonymous SNV ENSG00000196876.18:ENST00000354534.11:exon6:c.C650T:p.S217L 12q13.13 C3N-01646 . . . . . . . . . 17.20 D T B B D D M D D 0.833 D D D 0.892 0.800 0.994 1.973 D D D D D D 3.465 24.600 0.999 D D 0.706 7.199 0.718 8.109 1.000 0.543 0.563 0.602 0.639 . 5.200 5.200 7.905 1.026 0.599 1.000 1.000 1.000 579 Ion_transport_domain . . . SCN8A 114 0 108 11 0.092436974789916 TRUE TRUE +ENSG00000174456.15 . BCM GRCh38.p13 chr12 110042342 110042358 + CCCAAATACTCATTGAA CCCAAATACTCATTGAA - Nonstop_Mutation DEL ENST00000615315.1 exon3 c.401_417del p.L134Qfs*2 exonic ENSG00000174456.15 . stoploss ENSG00000174456.15:ENST00000615315.1:exon3:c.401_417del:p.L134Qfs*2 12q24.11 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C12orf76 137 0 134 43 0.242937853107345 TRUE NA +ENSG00000173064.13 . BCM GRCh38.p13 chr12 112258595 112258595 + G G T Missense_Mutation SNP ENST00000377560.9 exon20 c.C3023A p.T1008K exonic ENSG00000173064.13 . nonsynonymous SNV ENSG00000173064.13:ENST00000377560.9:exon20:c.C3023A:p.T1008K 12q24.13 C3N-01646 . . . . . . . . . 9.17 D T . . D D . T N 0.958 T T T 0.440 . 0.068 1.249 T T D D D D 5.365 34 0.992 D D 0.664 6.642 0.706 7.857 1.000 0.615 0.654 0.659 0.636 . 5.310 5.310 8.554 1.176 0.676 1.000 1.000 0.997 81 . . . . HECTD4 82 1 54 18 0.25 TRUE TRUE +ENSG00000032742.17 . BCM GRCh38.p13 chr13 20625753 20625753 + C C A Nonsense_Mutation SNP ENST00000351808.9 exon15 c.C1203A p.C401X exonic ENSG00000032742.17 . stopgain ENSG00000032742.17:ENST00000351808.9:exon15:c.C1203A:p.C401X 13q12.11 C3N-01646 . . . . . . . . . 5.6 . . . . D A . . . 0.951 . . . . . . . . . D D . . 5.665 34 0.994 D N 0.356 4.081 0.186 3.118 0.031 0.651 0.588 0.659 0.684 . 5.590 2.930 2.290 -4.385 -1.801 1.000 0.258 0.365 558 . . . . IFT88 265 2 82 6 0.0681818181818182 NA TRUE +ENSG00000253797.2 . BCM GRCh38.p13 chr13 52029480 52029480 + - NA TTT In_Frame_Ins INS ENST00000521776.2 exon2 c.676_677insTTT p.L226_Q227insF exonic ENSG00000253797.2 . nonframeshift insertion ENSG00000253797.2:ENST00000521776.2:exon2:c.676_677insTTT:p.L226_Q227insF 13q14.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTP14C NA NA NA NA NA NA NA +ENSG00000150361.12 . BCM GRCh38.p13 chr13 69838996 69838996 + C C T Missense_Mutation SNP ENST00000377844.9 exon6 c.G1394A p.G465E exonic ENSG00000150361.12 . nonsynonymous SNV ENSG00000150361.12:ENST00000377844.9:exon6:c.G1394A:p.G465E 13q21.33 C3N-01646 . . . . . . . . . 20.20 D D D D D D H D D 0.977 D D D 0.984 0.713 0.996 0.424 D D D D D D 3.986 26.900 0.998 D D 1.074 16.452 0.955 16.307 1.000 0.487 0.574 0.574 0.564 . 5.140 5.140 7.858 1.026 0.549 1.000 0.998 0.991 922 . . . ID=COSV64775530;OCCURENCE=2(skin) KLHL1 62 0 36 4 0.1 TRUE TRUE +ENSG00000165300.7 . BCM GRCh38.p13 chr13 87676593 87676593 + C C T Missense_Mutation SNP ENST00000325089.7 exon2 c.C1205T p.A402V exonic ENSG00000165300.7 . nonsynonymous SNV ENSG00000165300.7:ENST00000325089.7:exon2:c.C1205T:p.A402V 13q31.2 C3N-01646 . . . . . . . . . 8.20 D D B B D D N T N 0.155 T T T 0.094 0.568 0.082 0.410 T T T T D D 2.947 23.300 0.996 D D -0.014 2.461 0.181 3.092 1.000 0.652 0.590 0.641 0.530 . 5.750 5.750 5.999 1.026 0.599 1.000 0.854 0.969 927 . . . . SLITRK5 185 0 160 34 0.175257731958763 TRUE TRUE +ENSG00000129467.13 . BCM GRCh38.p13 chr14 24318700 24318700 + T T C Missense_Mutation SNP ENST00000310677.8 exon25 c.A3035G p.N1012S exonic ENSG00000129467.13 . nonsynonymous SNV ENSG00000129467.13:ENST00000310677.8:exon25:c.A3035G:p.N1012S 14q12 C3N-01646 . . . . . . . . . 18.19 T D D D D D M D D 0.910 D D D 0.855 0.826 0.989 0.954 D D D D D . 4.126 28.000 0.999 D D 0.946 12.304 0.857 12.013 1.000 0.707 0.694 0.615 0.714 . 5.400 5.400 8.014 1.138 0.665 1.000 0.910 0.981 856 Adenylyl_cyclase_class-3/4/guanylyl_cyclase;Adenylyl_cyclase_class-4/guanylyl_cyclase,_conserved_site . . ID=COSV60254617;OCCURENCE=1(large_intestine) ADCY4 198 0 140 48 0.25531914893617 TRUE TRUE +ENSG00000139946.10 . BCM GRCh38.p13 chr14 56288476 56288476 + A A T Missense_Mutation SNP ENST00000267460.9 exon4 c.A349T p.T117S exonic ENSG00000139946.10 . nonsynonymous SNV ENSG00000139946.10:ENST00000267460.9:exon4:c.A349T:p.T117S 14q22.3 C3N-01646 . . . . . . . . . 11.20 T T D D D D M T N 0.770 T T T 0.286 0.463 0.441 1.051 D T D T D D 3.061 23.500 0.994 D D 0.675 6.785 0.640 6.757 1.000 0.706 0.574 0.710 0.655 . 5.730 5.730 9.325 1.312 0.756 1.000 0.317 0.459 909 . . . . PELI2 334 0 199 62 0.237547892720307 TRUE NA +ENSG00000139946.10 . BCM GRCh38.p13 chr14 56288486 56288486 + T T - Frame_Shift_Del DEL ENST00000267460.9 exon4 c.359delT p.S121Lfs*72 exonic ENSG00000139946.10 . frameshift deletion ENSG00000139946.10:ENST00000267460.9:exon4:c.359delT:p.S121Lfs*72 14q22.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PELI2 410 0 205 62 0.232209737827715 TRUE TRUE +ENSG00000197555.9 . BCM GRCh38.p13 chr14 71650482 71650483 + AA AA - Frame_Shift_Del DEL ENST00000555818.5 exon5 c.1966_1967del p.K656Vfs*6 exonic ENSG00000197555.9 . frameshift deletion ENSG00000197555.9:ENST00000555818.5:exon5:c.1966_1967del:p.K656Vfs*6 14q24.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIPA1L1 240 0 152 68 0.309090909090909 TRUE TRUE +ENSG00000166133.18 . BCM GRCh38.p13 chr15 40569829 40569831 + CGT CGT - In_Frame_Del DEL ENST00000315616.12 exon1 c.492_494del p.V165del exonic ENSG00000166133.18 . nonframeshift deletion ENSG00000166133.18:ENST00000315616.12:exon1:c.492_494del:p.V165del 15q15.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPUSD2 276 0 216 48 0.181818181818182 TRUE TRUE +ENSG00000067369.14 . BCM GRCh38.p13 chr15 43446584 43446584 + C C T Missense_Mutation SNP ENST00000263801.7 exon14 c.G2828A p.S943N exonic ENSG00000067369.14 . nonsynonymous SNV ENSG00000067369.14:ENST00000263801.7:exon14:c.G2828A:p.S943N 15q15.3 C3N-01646 . . . . . . . . . 3.20 T T P B N N M T N 0.311 T T T 0.066 0.195 0.271 0.074 T T T T T D 1.971 19.040 0.938 D N 0.103 2.900 0.179 3.083 0.200 0.707 0.725 0.725 0.714 . 5.470 3.570 1.943 1.026 0.599 1.000 1.000 0.998 17 . . . . TP53BP1 93 0 139 42 0.232044198895028 TRUE NA +ENSG00000103995.14 . BCM GRCh38.p13 chr15 48767417 48767417 + T T A Missense_Mutation SNP ENST00000380950.7 exon16 c.A2065T p.I689L exonic ENSG00000103995.14 . nonsynonymous SNV ENSG00000103995.14:ENST00000380950.7:exon16:c.A2065T:p.I689L 15q21.1 C3N-01646 . . . . . . . . . 4.20 T T D D N N M T N 0.474 T T T 0.123 0.255 0.743 0.383 T T T T D T 2.767 23.000 0.988 N N 0.010 2.545 0.101 2.738 0.998 0.651 0.654 0.651 0.636 . 5.660 4.540 1.618 1.138 0.665 0.887 1.000 0.999 315 . . . . CEP152 463 0 494 131 0.2096 TRUE TRUE +ENSG00000137809.17 . BCM GRCh38.p13 chr15 68339564 68339564 + A A - Frame_Shift_Del DEL ENST00000315757.9 exon11 c.1212delT p.P405Lfs*7 exonic ENSG00000137809.17 . frameshift deletion ENSG00000137809.17:ENST00000315757.9:exon11:c.1212delT:p.P405Lfs*7 15q23 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA11 229 0 247 50 0.168350168350168 TRUE TRUE +ENSG00000140577.16 . BCM GRCh38.p13 chr15 90619748 90619748 + C C G Missense_Mutation SNP ENST00000268184.11 exon9 c.C707G p.S236C exonic ENSG00000140577.16 . nonsynonymous SNV ENSG00000140577.16:ENST00000268184.11:exon9:c.C707G:p.S236C 15q26.1 C3N-01646 . . . . . . . . . 7.20 T D D D D D L T N 0.670 T T T 0.186 0.356 0.093 0.279 T T T T D T 3.529 24.800 0.988 D N 0.568 5.608 0.551 5.663 1.000 0.732 0.699 0.650 0.728 . 4.850 4.850 3.306 0.939 0.599 1.000 0.998 0.996 814 Transducer_of_regulated_CREB_activity,_middle_domain . . . CRTC3 251 0 187 31 0.142201834862385 TRUE TRUE +ENSG00000173575.22 . BCM GRCh38.p13 chr15 92946090 92946090 + G G T Missense_Mutation SNP ENST00000394196.9 exon12 c.G1251T p.W417C exonic ENSG00000173575.22 . nonsynonymous SNV ENSG00000173575.22:ENST00000394196.9:exon12:c.G1251T:p.W417C 15q26.1 C3N-01646 . . . . . . . . . 19.20 D D D D U D H D D 0.993 D D D 0.917 0.884 0.981 1.744 D D D D D D 4.622 32 0.994 D D 1.010 14.255 0.933 15.222 1.000 0.707 0.725 0.609 0.714 . 5.200 5.200 9.602 1.176 0.676 1.000 1.000 0.990 951 Chromo/chromo_shadow_domain;Chromo_domain,_conserved_site;Chromo_domain . . . CHD2 92 0 113 26 0.18705035971223 TRUE TRUE +ENSG00000179580.10 . BCM GRCh38.p13 chr16 1967387 1967387 + C C A Missense_Mutation SNP ENST00000569714.6 exon2 c.C117A p.F39L exonic ENSG00000179580.10 . nonsynonymous SNV ENSG00000179580.10:ENST00000569714.6:exon2:c.C117A:p.F39L 16p13.3 C3N-01646 . . . . . . . . . 12.20 D D D D N D M T D 0.916 T T D 0.517 0.865 0.835 0.739 T T D T D D 4.073 27.500 0.998 D N 0.562 5.555 0.453 4.755 0.935 0.498 0.551 0.514 0.711 . 4.260 3.280 3.283 1.022 0.596 1.000 1.000 0.998 693 Zinc_finger,_RING-type;Zinc_finger,_RING-type,_conserved_site . . . RNF151 132 1 102 35 0.255474452554745 TRUE TRUE +ENSG00000127564.17 . BCM GRCh38.p13 chr16 2976833 2976833 + C C T Missense_Mutation SNP ENST00000262300.13 exon3 c.G209A p.R70Q exonic ENSG00000127564.17 . nonsynonymous SNV ENSG00000127564.17:ENST00000262300.13:exon3:c.G209A:p.R70Q 16p13.3 C3N-01646 . . . . . . . . . 6.20 D T P B N D M T N 0.367 T T T 0.113 0.180 0.664 0.176 T T T T D D 3.886 26.300 0.999 D N 0.401 4.352 0.472 4.917 1.000 0.672 0.577 0.702 0.684 . 5.780 5.780 3.683 1.026 0.599 0.995 1.000 1.000 851 . . . . PKMYT1 19 0 25 9 0.264705882352941 TRUE NA +ENSG00000185864.16 . BCM GRCh38.p13 chr16 21837555 21837555 + C C A Missense_Mutation SNP ENST00000415645.6 exon7 c.G832T p.A278S exonic ENSG00000185864.16 . nonsynonymous SNV ENSG00000185864.16:ENST00000415645.6:exon7:c.G832T:p.A278S 16p12.2 C3N-01646 . . . . . . . . . 2.16 T T D D . . . T N 0.089 T T T 0.041 0.458 0.176 . . T T T T T 0.185 2.955 0.974 N N -0.528 1.122 -0.842 0.700 0.000 0.693 0.659 0.659 0.564 . . . -2.131 -2.019 -1.987 0.000 0.000 0.000 607 . . . . NPIPB4 66 0 53 19 0.263888888888889 NA TRUE +ENSG00000103319.12 . BCM GRCh38.p13 chr16 22280340 22280340 + G G A Missense_Mutation SNP ENST00000263026.10 exon17 c.G2032A p.G678R exonic ENSG00000103319.12 . nonsynonymous SNV ENSG00000103319.12:ENST00000263026.10:exon17:c.G2032A:p.G678R 16p12.2 C3N-01646 . . . . . . . . . 18.20 D D D D D D M T D 0.937 D D D 0.697 0.534 0.904 0.852 T D D D D D 3.957 26.700 0.998 D D 0.639 6.340 0.513 5.275 1.000 0.706 0.702 0.710 0.714 . 5.580 5.580 9.567 1.176 0.676 1.000 0.006 0.030 498 . . . . EEF2K 56 0 48 17 0.261538461538462 TRUE TRUE +ENSG00000168488.18 . BCM GRCh38.p13 chr16 28833276 28833276 + C C T Missense_Mutation SNP ENST00000336783.8 exon14 c.C1877T p.P626L exonic ENSG00000168488.18 . nonsynonymous SNV ENSG00000168488.18:ENST00000336783.8:exon14:c.C1877T:p.P626L 16p11.2 C3N-01646 . . . . . . . . . 2.20 D T B B N N L T N 0.349 T T T 0.086 0.316 0.309 0.294 T T T T T D 1.726 17.210 0.997 N N -0.415 1.350 -0.274 1.619 0.983 0.672 0.702 0.702 0.711 . 5.690 5.690 1.465 0.129 -0.176 0.002 0.995 0.995 316 . . . . ATXN2L 195 0 191 65 0.25390625 NA TRUE +ENSG00000087245.13 . BCM GRCh38.p13 chr16 55483029 55483029 + A A C Missense_Mutation SNP ENST00000219070.9 exon2 c.A274C p.N92H exonic ENSG00000087245.13 . nonsynonymous SNV ENSG00000087245.13:ENST00000219070.9:exon2:c.A274C:p.N92H 16q12.2 C3N-01646 . . . . . . . . . 5.20 D T P B N D M T N 0.351 T T D 0.277 0.466 0.895 0.520 T T T T T T 2.599 22.600 0.995 D N -0.042 2.366 -0.036 2.239 1.000 0.722 0.574 0.710 0.735 . 5.050 2.780 2.574 -0.066 0.691 0.978 0.845 0.987 931 Peptidoglycan_binding-like . . . MMP2 327 2 328 100 0.233644859813084 TRUE TRUE +ENSG00000103335.22 . BCM GRCh38.p13 chr16 88726321 88726321 + T T C Missense_Mutation SNP ENST00000301015.14 exon27 c.A3931G p.R1311G exonic ENSG00000103335.22 . nonsynonymous SNV ENSG00000103335.22:ENST00000301015.14:exon27:c.A3931G:p.R1311G 16q24.3 C3N-01646 . . . . . . . . rs941138321 2.20 T D B B N N N T N 0.179 T T D 0.166 0.504 0.165 . T T T T T T 0.138 2.450 0.897 N N -0.918 0.498 -0.930 0.579 0.038 0.707 0.702 0.723 0.714 . 4.760 0.462 -0.412 -1.268 -2.049 0.000 0.007 0.007 873 Piezo_domain . . . PIEZO1 93 0 93 17 0.154545454545455 TRUE NA +ENSG00000075399.14 . BCM GRCh38.p13 chr16 89710921 89710921 + G G A Missense_Mutation SNP ENST00000389386.8 exon10 c.C923T p.A308V exonic ENSG00000075399.14 . nonsynonymous SNV ENSG00000075399.14:ENST00000389386.8:exon10:c.C923T:p.A308V 16q24.3 C3N-01646 0.0047 0 0 0 . 0 0 0.0080 rs542489413 0.19 T T B B N N N . N 0.104 T T T 0.005 0.142 0.055 0.175 T T T T T T 0.624 7.743 0.913 N N -1.379 0.126 -1.410 0.146 1.000 0.660 0.694 0.576 0.605 . 4.410 -2.670 -0.183 0.080 -0.112 0.000 0.001 0.001 693 . . . . VPS9D1 41 0 22 10 0.3125 TRUE NA +ENSG00000183018.9 . BCM GRCh38.p13 chr17 4532629 4532629 + G G C Missense_Mutation SNP ENST00000329078.8 exon6 c.G880C p.D294H exonic ENSG00000183018.9 . nonsynonymous SNV ENSG00000183018.9:ENST00000329078.8:exon6:c.G880C:p.D294H 17p13.2 C3N-01646 . . . . . . . . . 8.20 D T B B D D N T N 0.307 T T D 0.189 0.435 0.384 0.291 T T T T D D 2.558 22.600 0.980 D D -0.083 2.229 0.074 2.629 1.000 0.722 0.551 0.615 0.735 . 5.090 5.090 9.194 1.176 0.676 1.000 0.946 0.568 814 Major_facilitator_superfamily_domain . . . SPNS2 172 0 174 44 0.201834862385321 TRUE TRUE +ENSG00000108515.18 . BCM GRCh38.p13 chr17 4955263 4955281 + TGGCTTCGCACCCAACATC TGGCTTCGCACCCAACATC - Frame_Shift_Del DEL ENST00000519602.6 exon7 c.633_651del p.G212Wfs*10 exonic ENSG00000108515.18 . frameshift deletion ENSG00000108515.18:ENST00000519602.6:exon7:c.633_651del:p.G212Wfs*10 17p13.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENO3 386 0 330 65 0.164556962025316 TRUE TRUE +ENSG00000198242.14 . BCM GRCh38.p13 chr17 28722788 28722790 + ACA ACA - In_Frame_Del DEL ENST00000422514.7 exon3 c.275_277del p.N94del exonic ENSG00000198242.14 . nonframeshift deletion ENSG00000198242.14:ENST00000422514.7:exon3:c.275_277del:p.N94del 17q11.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPL23A 272 0 265 71 0.211309523809524 TRUE TRUE +ENSG00000185862.7 . BCM GRCh38.p13 chr17 31305485 31305485 + G G C Nonsense_Mutation SNP ENST00000330927.5 exon2 c.C125G p.S42X exonic ENSG00000185862.7 . stopgain ENSG00000185862.7:ENST00000330927.5:exon2:c.C125G:p.S42X 17q11.2 C3N-01646 . . . . . . . . . 3.6 . . . . N D . . . 0.066 . . . . . . . . . D D . . 4.097 27.700 0.977 N N 0.158 3.123 -0.221 1.737 0.986 0.672 0.702 0.574 0.655 . 5.010 0.677 0.680 -0.144 0.676 0.001 0.000 0.005 792 . . . . EVI2B 245 0 179 44 0.197309417040359 TRUE TRUE +ENSG00000178691.11 . BCM GRCh38.p13 chr17 31993870 31993870 + - NA T Frame_Shift_Ins INS ENST00000322652.10 exon12 c.1300dupT p.Y434Lfs*2 exonic ENSG00000178691.11 . frameshift insertion ENSG00000178691.11:ENST00000322652.10:exon12:c.1300dupT:p.Y434Lfs*2 17q11.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUZ12 NA NA NA NA NA NA NA +ENSG00000176658.17 . BCM GRCh38.p13 chr17 32764964 32764964 + A A - Frame_Shift_Del DEL ENST00000318217.10 exon8 c.949delT p.Y317Tfs*100 exonic ENSG00000176658.17 . frameshift deletion ENSG00000176658.17:ENST00000318217.10:exon8:c.949delT:p.Y317Tfs*100 17q11.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO1D 368 0 370 93 0.200863930885529 TRUE TRUE +ENSG00000161654.10 . BCM GRCh38.p13 chr17 44036212 44036212 + G G C Missense_Mutation SNP ENST00000293406.8 exon5 c.C584G p.S195C exonic ENSG00000161654.10 . nonsynonymous SNV ENSG00000161654.10:ENST00000293406.8:exon5:c.C584G:p.S195C 17q21.31 C3N-01646 . . . . . . . . . 9.20 D D D D D D N T N 0.466 T T T 0.287 0.253 0.110 2.822 T T T T D T 4.128 28.000 0.990 D D 0.651 6.480 0.712 7.989 1.000 0.707 0.725 0.725 0.714 . 5.190 5.190 9.107 1.176 0.676 1.000 1.000 0.994 666 . . . . LSM12 223 0 105 36 0.25531914893617 TRUE TRUE +ENSG00000006025.12 . BCM GRCh38.p13 chr17 47819977 47819977 + C C A Missense_Mutation SNP ENST00000007414.8 exon3 c.G195T p.W65C exonic ENSG00000006025.12 . nonsynonymous SNV ENSG00000006025.12:ENST00000007414.8:exon3:c.G195T:p.W65C 17q21.32 C3N-01646 . . . . . . . . . 15.20 D D D D D D H T D 0.917 T T D 0.617 0.864 0.622 1.598 T T D D D D 4.249 29.100 0.922 D D 0.918 11.524 0.831 11.104 1.000 0.651 0.693 0.659 0.684 . 4.960 4.960 7.568 1.026 0.599 1.000 1.000 0.998 335 Pleckstrin_homology_domain . . . OSBPL7 111 0 74 22 0.229166666666667 TRUE TRUE +ENSG00000181523.13 . BCM GRCh38.p13 chr17 80210607 80210607 + C C G Missense_Mutation SNP ENST00000326317.11 exon8 c.G1354C p.A452P exonic ENSG00000181523.13 . nonsynonymous SNV ENSG00000181523.13:ENST00000326317.11:exon8:c.G1354C:p.A452P 17q25.3 C3N-01646 . . . . . . . . . 19.20 D D D D D D H D D 0.614 D D D 0.920 0.661 0.986 0.825 T D D D D D 3.508 24.700 0.998 D D 0.758 8.011 0.653 6.962 1.000 0.707 0.702 0.645 0.714 . 4.890 4.890 5.978 1.026 0.599 1.000 0.870 0.251 814 Domain_of_unknown_function_DUF4976 . . . SGSH 514 0 547 134 0.196769456681351 TRUE TRUE +ENSG00000017797.13 . BCM GRCh38.p13 chr18 9516987 9516987 + G G - Frame_Shift_Del DEL ENST00000383432.8 exon3 c.387delG p.K130Nfs*25 exonic ENSG00000017797.13 . frameshift deletion ENSG00000017797.13:ENST00000383432.8:exon3:c.387delG:p.K130Nfs*25 18p11.22 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RALBP1 59 0 45 10 0.181818181818182 NA TRUE +ENSG00000134759.14 . BCM GRCh38.p13 chr18 36138355 36138355 + C C T Missense_Mutation SNP ENST00000358232.11 exon4 c.C374T p.A125V exonic ENSG00000134759.14 . nonsynonymous SNV ENSG00000134759.14:ENST00000358232.11:exon4:c.C374T:p.A125V 18q12.2 C3N-01646 . . . . . . . . . 1.20 T T B B N N L T N 0.184 T T D 0.017 0.420 0.383 0.082 T T T T T T 0.722 8.659 0.947 N N -1.081 0.323 -1.111 0.365 0.987 0.719 0.723 0.725 0.714 . 5.640 -0.103 0.749 -0.883 -0.176 0.001 0.000 0.030 957 WD40-repeat-containing_domain . . . ELP2 246 0 291 56 0.161383285302594 TRUE TRUE +ENSG00000132005.9 . BCM GRCh38.p13 chr19 13963249 13963249 + A A T Missense_Mutation SNP ENST00000254325.9 exon19 c.T2597A p.L866Q exonic ENSG00000132005.9 . nonsynonymous SNV ENSG00000132005.9:ENST00000254325.9:exon19:c.T2597A:p.L866Q 19p13.12 C3N-01646 . . . . . . . . . 17.20 D D D D D D M T D 0.984 T T D 0.659 0.589 0.679 2.081 D D D D D D 4.370 31 0.995 D D 0.867 10.243 0.792 9.899 1.000 0.789 0.644 0.768 0.700 . 5.030 5.030 9.140 1.070 0.552 1.000 0.999 0.985 940 . . . . RFX1 125 0 141 34 0.194285714285714 TRUE TRUE +ENSG00000086544.3 . BCM GRCh38.p13 chr19 40739448 40739448 + A A C Missense_Mutation SNP ENST00000263370.3 exon7 c.A1940C p.D647A exonic ENSG00000086544.3 . nonsynonymous SNV ENSG00000086544.3:ENST00000263370.3:exon7:c.A1940C:p.D647A 19q13.2 C3N-01646 . . . . . . . . . 2.20 T T B B N D N T D 0.108 T T T 0.025 0.455 0.372 0.456 T T T T T T 1.773 17.540 0.950 N N -0.519 1.139 -0.412 1.351 1.000 0.635 0.577 0.644 0.636 . 5.040 2.830 0.006 0.323 0.756 0.000 0.736 0.501 494 . . . . ITPKC 304 0 222 50 0.183823529411765 TRUE TRUE +ENSG00000267680.5 . BCM GRCh38.p13 chr19 44106747 44106747 + G G A Missense_Mutation SNP ENST00000336976.10 exon6 c.G587A p.R196K exonic ENSG00000267680.5 . nonsynonymous SNV ENSG00000267680.5:ENST00000336976.10:exon6:c.G587A:p.R196K 19q13.31 C3N-01646 . . . . . . . . . 0.19 T T B B . N N T N 0.131 T T T 0.057 0.668 0.237 0.119 T T T T T T 0.967 11.210 0.970 N N -0.785 0.676 -0.813 0.739 0.031 0.707 0.725 0.609 0.636 . 3.440 1.100 -0.310 1.155 0.591 0.000 0.208 0.790 610 Zinc_finger_C2H2-type . . . ZNF224 71 0 58 21 0.265822784810127 NA TRUE +ENSG00000130749.10 . BCM GRCh38.p13 chr19 47094517 47094517 + C C T Missense_Mutation SNP ENST00000253048.10 exon3 c.G253A p.E85K exonic ENSG00000130749.10 . nonsynonymous SNV ENSG00000130749.10:ENST00000253048.10:exon3:c.G253A:p.E85K 19q13.32 C3N-01646 . . . . . . . . . 6.20 D D B B N D L T N 0.518 T T T 0.104 0.273 0.043 1.358 T T T T D D 2.630 22.700 0.998 D N -0.149 2.025 -0.001 2.356 1.000 0.732 0.602 0.744 0.714 . 6.050 6.050 5.110 1.026 0.599 1.000 0.997 0.992 878 . . . . ZC3H4 325 0 304 65 0.176151761517615 TRUE TRUE +ENSG00000105373.19 . BCM GRCh38.p13 chr19 47750940 47750940 + A A G Missense_Mutation SNP ENST00000246802.10 exon4 c.A431G p.K144R exonic ENSG00000105373.19 . nonsynonymous SNV ENSG00000105373.19:ENST00000246802.10:exon4:c.A431G:p.K144R 19q13.33 C3N-01646 . . . . . . . . . 7.19 T T D D N D . T N 0.208 T T D 0.206 0.637 0.722 0.188 T T T T D T 3.031 23.500 0.999 D D 0.333 3.952 0.271 3.554 0.384 0.707 0.698 0.702 0.714 . 4.240 3.220 2.286 1.312 0.756 1.000 0.998 0.935 872 . . . . NOP53 166 0 109 27 0.198529411764706 TRUE TRUE +ENSG00000225950.8 . BCM GRCh38.p13 chr19 49061706 49061706 + C C T Missense_Mutation SNP ENST00000593537.1 exon1 c.G292A p.D98N exonic ENSG00000225950.8 . nonsynonymous SNV ENSG00000225950.8:ENST00000593537.1:exon1:c.G292A:p.D98N 19q13.33 C3N-01646 . . . . . . . . . 11.18 . D D P N D M T . 0.457 D T D 0.592 0.848 0.850 . T D T T D D 3.798 25.800 0.999 D D 0.467 4.787 0.376 4.191 1.000 0.646 0.578 0.645 0.542 . 3.540 3.540 3.976 1.019 0.545 0.934 0.873 0.978 856 Nerve_growth_factor-related . . . NTF4 272 0 186 50 0.211864406779661 TRUE NA +ENSG00000142552.8 . BCM GRCh38.p13 chr19 49534325 49534326 + CG CG - Nonsense_Mutation DEL ENST00000270645.8 exon3 c.375_376del p.Y125* exonic ENSG00000142552.8 . stopgain ENSG00000142552.8:ENST00000270645.8:exon3:c.375_376del:p.Y125* 19q13.33 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RCN3 96 0 35 13 0.270833333333333 TRUE TRUE +ENSG00000213024.12 . BCM GRCh38.p13 chr19 49909026 49909026 + G G T Missense_Mutation SNP ENST00000352066.8 exon3 c.C782A p.P261H exonic ENSG00000213024.12 . nonsynonymous SNV ENSG00000213024.12:ENST00000352066.8:exon3:c.C782A:p.P261H 19q13.33 C3N-01646 . . . . . . . . . 7.20 T T D P U D M T D 0.508 T T D 0.160 0.339 0.526 0.853 T T T T D T 3.324 24.200 0.992 D N -0.067 2.282 -0.178 1.839 1.000 0.722 0.699 0.702 0.711 . 5.330 4.280 2.423 1.176 0.676 0.988 0.880 0.563 645 . . . . NUP62 86 0 112 27 0.194244604316547 TRUE TRUE +ENSG00000062822.15 . BCM GRCh38.p13 chr19 50402247 50402247 + G G C Missense_Mutation SNP ENST00000440232.7 exon6 c.G632C p.R211P exonic ENSG00000062822.15 . nonsynonymous SNV ENSG00000062822.15:ENST00000440232.7:exon6:c.G632C:p.R211P 19q13.33 C3N-01646 1.779e-05 0 0 0 0.0003 0 0 0 rs373192520 16.20 D D D D D D M T D 0.852 T T D 0.303 0.742 0.798 0.868 T D D D D D 3.599 25.000 0.997 D D 0.465 4.774 0.404 4.385 0.007 0.707 0.725 0.571 0.636 . 4.170 4.170 1.480 1.172 0.614 0.872 0.861 0.339 759 DNA-directed_DNA_polymerase,_family_B,_exonuclease_domain . . . POLD1 49 0 36 14 0.28 TRUE TRUE +ENSG00000198633.10 . BCM GRCh38.p13 chr19 52438322 52438322 + C C T Missense_Mutation SNP ENST00000332323.10 exon4 c.C901T p.H301Y exonic ENSG00000198633.10 . nonsynonymous SNV ENSG00000198633.10:ENST00000332323.10:exon4:c.C901T:p.H301Y 19q13.41 C3N-01646 . . . . . . . . . 11.19 D D D D . N M D D 0.266 D D T 0.294 0.689 0.367 0.643 T T D T D T 2.311 21.600 0.981 N N -0.184 1.923 -0.510 1.186 0.000 0.487 0.574 0.574 0.564 . 1.710 0.522 2.651 0.553 0.401 0.974 0.001 0.071 988 Zinc_finger_C2H2-type . . . ZNF534 167 0 115 23 0.166666666666667 TRUE TRUE +ENSG00000105605.7 . BCM GRCh38.p13 chr19 53942078 53942078 + G G A Missense_Mutation SNP ENST00000391767.5 exon6 c.G613A p.A205T exonic ENSG00000105605.7 . nonsynonymous SNV ENSG00000105605.7:ENST00000391767.5:exon6:c.G613A:p.A205T 19q13.42 C3N-01646 . . . . . . . . . 7.19 T T B B D D . T N 0.161 T T D 0.171 0.221 0.336 0.786 T T T T D D 2.397 22.100 0.997 D D -0.304 1.604 -0.108 2.024 1.000 0.583 0.574 0.522 0.621 . 4.110 4.110 3.491 1.082 0.618 1.000 1.000 0.998 994 . . . ID=COSV99712051;OCCURENCE=1(large_intestine) CACNG7 81 0 67 18 0.211764705882353 TRUE NA +ENSG00000101251.12 . BCM GRCh38.p13 chr20 13850215 13850215 + C C A Missense_Mutation SNP ENST00000284951.9 exon19 c.G1923T p.L641F exonic ENSG00000101251.12 . nonsynonymous SNV ENSG00000101251.12:ENST00000284951.9:exon19:c.G1923T:p.L641F 20p12.1 C3N-01646 . . . . . . . . . 0.20 T T B B N N N T N 0.209 T T T 0.042 0.464 0.040 0.082 T T T T T T 0.675 8.228 0.090 N N -0.842 0.595 -0.754 0.823 0.004 0.487 0.563 0.574 0.564 . 5.970 0.192 -0.083 0.129 -0.175 0.836 0.658 0.009 618 . . . . SEL1L2 187 0 151 63 0.294392523364486 TRUE TRUE +ENSG00000125970.12 . BCM GRCh38.p13 chr20 34077208 34077208 + A A G Missense_Mutation SNP ENST00000246194.8 exon8 c.A839G p.D280G exonic ENSG00000125970.12 . nonsynonymous SNV ENSG00000125970.12:ENST00000246194.8:exon8:c.A839G:p.D280G 20q11.22 C3N-01646 . . . . . . . . . 10.20 D D D D N D L T N 0.505 T T D 0.148 0.149 0.625 1.431 T T T T D D 4.269 29.300 0.998 D D 0.450 4.667 0.426 4.549 1.000 0.672 0.702 0.723 0.711 . 5.280 5.280 5.119 1.312 0.691 1.000 0.591 0.508 135 . . . . RALY 203 0 140 34 0.195402298850575 TRUE TRUE +ENSG00000125971.16 . BCM GRCh38.p13 chr20 34534717 34534717 + G G A Missense_Mutation SNP ENST00000357156.6 exon3 c.G169A p.V57M exonic ENSG00000125971.16 . nonsynonymous SNV ENSG00000125971.16:ENST00000357156.6:exon3:c.G169A:p.V57M 20q11.22 C3N-01646 8.447e-06 0 0 0 0 1.52e-05 0 0 rs199786050 9.19 D D B B D D . T D 0.635 T T T 0.182 . 0.482 1.153 T T T T D D 3.192 23.800 0.999 D D 0.299 3.773 0.332 3.908 1.000 0.707 0.702 0.725 0.714 . 5.060 4.120 4.803 1.158 0.676 1.000 0.993 0.986 161 Roadblock/LAMTOR2_domain . . ID=COSV55963820;OCCURENCE=1(stomach) DYNLRB1 57 0 52 4 0.0714285714285714 TRUE NA +ENSG00000185513.16 . BCM GRCh38.p13 chr20 43534303 43534303 + T T A Missense_Mutation SNP ENST00000427442.8 exon15 c.T1553A p.L518Q exonic ENSG00000185513.16;ENSG00000288000.1 . nonsynonymous SNV ENSG00000185513.16:ENST00000427442.8:exon15:c.T1553A:p.L518Q 20q13.12 C3N-01646 . . . . . . . . . 5.20 T T B B D D N T N 0.246 T T T 0.051 0.431 0.395 0.198 T T T T D D 3.034 23.500 0.917 D N 0.242 3.496 0.364 4.114 0.966 0.615 0.588 0.659 0.568 . 5.390 5.390 4.389 1.138 0.665 1.000 1.000 0.998 650 . . . . L3MBTL1 96 0 89 24 0.212389380530973 TRUE TRUE +ENSG00000159110.20 . BCM GRCh38.p13 chr21 33263357 33263357 + C C A Missense_Mutation SNP ENST00000342136.9 exon9 c.C1405A p.H469N exonic ENSG00000159110.20;ENSG00000249624.9 . nonsynonymous SNV ENSG00000159110.20:ENST00000342136.9:exon9:c.C1405A:p.H469N,ENSG00000249624.9:ENST00000646150.1:exon9:c.C1405A:p.H469N 21q22.11 C3N-01646 . . . . . . . . . 0.19 T T B B N N L T N 0.085 T T T 0.118 0.165 0.287 0.057 T T T T T . 0.475 6.236 0.659 N N -1.024 0.379 -1.094 0.382 0.999 0.706 0.702 0.710 0.714 . 4.460 -1.830 0.154 0.125 0.599 0.000 0.000 0.006 923 . . . . IFNAR2 331 1 267 69 0.205357142857143 TRUE TRUE +ENSG00000160209.19 . BCM GRCh38.p13 chr21 43734112 43734112 + C C T Missense_Mutation SNP ENST00000291565.9 exon2 c.C131T p.S44L exonic ENSG00000160209.19 . nonsynonymous SNV ENSG00000160209.19:ENST00000291565.9:exon2:c.C131T:p.S44L 21q22.3 C3N-01646 . . . . . . . . . 19.20 D D D D D D H T D 0.888 D D D 0.872 0.805 0.918 1.456 D D D D D D 4.444 31 0.980 D D 0.853 9.910 0.711 7.968 1.000 0.672 0.702 0.723 0.563 . 4.130 4.130 5.249 0.776 0.597 1.000 0.999 0.994 982 . . . ID=COSV104621506;OCCURENCE=1(skin) PDXK 261 0 229 61 0.210344827586207 TRUE TRUE +ENSG00000100344.11 . BCM GRCh38.p13 chr22 43944713 43944713 + A A G Missense_Mutation SNP ENST00000216180.8 exon8 c.A1135G p.M379V exonic ENSG00000100344.11 . nonsynonymous SNV ENSG00000100344.11:ENST00000216180.8:exon8:c.A1135G:p.M379V 22q13.31 C3N-01646 . . . . . . . . . 0.20 T T B B N N N T N 0.139 T T T 0.016 0.410 0.214 0.098 T T T T T T 0.065 1.798 0.381 N N -1.665 0.042 -1.671 0.057 1.000 0.672 0.627 0.702 0.655 . 4.370 -3.800 0.485 1.199 -0.065 0.000 0.018 0.002 836 . . . . PNPLA3 185 0 147 41 0.218085106382979 TRUE TRUE +ENSG00000075275.17 . BCM GRCh38.p13 chr22 46439254 46439254 + G G T Missense_Mutation SNP ENST00000262738.8 exon3 c.C4341A p.F1447L exonic ENSG00000075275.17 . nonsynonymous SNV ENSG00000075275.17:ENST00000262738.8:exon3:c.C4341A:p.F1447L 22q13.31 C3N-01646 . . . . . . . . . 18.20 D D D D U D M D D 0.835 D D D 0.794 0.723 0.915 0.755 T D D D D D 4.019 27.100 0.999 D D 0.712 7.288 0.569 5.858 1.000 0.696 0.547 0.723 0.655 . 5.100 5.100 3.988 1.155 0.656 1.000 0.989 0.640 963 Laminin_G_domain . . . CELSR1 175 0 142 50 0.260416666666667 TRUE TRUE +ENSG00000075275.17 . BCM GRCh38.p13 chr22 46536858 46536858 + G G T Missense_Mutation SNP ENST00000262738.8 exon1 c.C313A p.L105M exonic ENSG00000075275.17 . nonsynonymous SNV ENSG00000075275.17:ENST00000262738.8:exon1:c.C313A:p.L105M 22q13.31 C3N-01646 . . . . . . . . . 2.20 D T P B U N N T N 0.160 T T D 0.160 0.221 0.442 0.694 T T T T T T 0.940 10.870 0.908 N N -0.797 0.659 -0.909 0.608 1.000 0.583 0.573 0.504 0.621 . 1.990 1.990 0.367 -0.695 0.467 0.017 0.001 0.052 940 . . . . CELSR1 30 0 25 3 0.107142857142857 TRUE TRUE +ENSG00000165197.5 . BCM GRCh38.p13 chrX 15346171 15346171 + T T C Missense_Mutation SNP ENST00000297904.4 exon7 c.A1027G p.R343G exonic ENSG00000165197.5 . nonsynonymous SNV ENSG00000165197.5:ENST00000297904.4:exon7:c.A1027G:p.R343G Xp22.2 C3N-01646 . . . . . . . . . 4.18 D T B B N N M . N 0.336 T T T 0.171 0.159 0.388 0.250 T T T T D T 2.399 22.100 0.973 D . . . . . 1.000 . . . . . 5.760 5.760 5.320 1.138 0.665 0.997 0.663 0.722 55 . . . . VEGFD 102 0 92 5 0.0515463917525773 TRUE NA +ENSG00000184216.14 . BCM GRCh38.p13 chrX 154014126 154014126 + G G C Missense_Mutation SNP ENST00000369980.8 exon11 c.C1455G p.C485W exonic ENSG00000184216.14 . nonsynonymous SNV ENSG00000184216.14:ENST00000369980.8:exon11:c.C1455G:p.C485W Xq28 C3N-01646 . . . . . . . . . 9.19 D D D D N D N T D 0.558 T T D 0.253 0.590 0.804 1.611 T T T T D T 2.980 23.400 0.992 D . . . . . 1.000 . . . . . 5.400 2.680 0.557 1.176 0.676 1.000 0.317 0.677 76 Protein_kinase_domain . . . IRAK1 66 0 39 33 0.458333333333333 TRUE TRUE +ENSG00000114480.13 . BCM GRCh38.p13 chr3 81535193 81535193 + A A - Splice_Site SNP NA NA NA NA splicing ENSG00000114480.13 ENST00000429644.7:exon14:c.1934+2T>- . . 3p12.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GBE1 215 0 102 24 0.19047619047619 TRUE TRUE +ENSG00000157423.18 . BCM GRCh38.p13 chr16 70857703 70857703 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000157423.18 ENST00000393567.7:exon72:c.12295+2T>C . . 16q22.2 C3N-01646 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 3.948 26.600 0.990 D . 1.033 15.003 0.869 12.500 1.000 0.066 0.085 0.060 0.063 0.958 5.860 5.860 7.344 1.307 0.751 1.000 0.587 0.231 550 . . . . HYDIN 31 0 40 6 0.130434782608696 NA TRUE +ENSG00000196712.18 . BCM GRCh38.p13 chr17 31182507 31182507 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000196712.18 ENST00000358273.9:exon8:c.731-1G>T . . 17q11.2 C3N-01646 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.295 35 0.979 D . 0.961 12.732 0.765 9.166 0.005 0.164 0.157 0.084 0.243 0.740 5.370 3.330 8.923 1.149 0.672 1.000 0.975 0.986 537 . . . ID=COSV62191398;OCCURENCE=1(ovary),1(lung) NF1 203 0 212 62 0.226277372262774 TRUE TRUE +ENSG00000196712.18 . BCM GRCh38.p13 chr17 31229834 31229834 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000196712.18 ENST00000358273.9:exon22:c.2851-1G>A . . 17q11.2 C3N-01646 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.743 34 0.991 D . 1.109 17.900 0.937 15.456 1.000 0.156 0.156 0.121 0.118 0.976 5.660 5.660 9.564 1.176 0.676 1.000 0.981 0.948 687 . . . ID=COSV62220039;OCCURENCE=2(central_nervous_system) NF1 169 0 109 29 0.210144927536232 NA TRUE +ENSG00000067606.17 . BCM GRCh38.p13 chr1 2156048 2156048 + C C T Silent SNP ENST00000400921.6 exon7 c.C381T p.N127N exonic ENSG00000067606.17 . synonymous SNV ENSG00000067606.17:ENST00000400921.6:exon7:c.C381T:p.N127N 1p36.33 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKCZ 239 0 233 35 0.130597014925373 TRUE TRUE +ENSG00000116863.11 . BCM GRCh38.p13 chr1 36089084 36089084 + G G A Silent SNP ENST00000373178.5 exon1 c.G180A p.P60P exonic ENSG00000116863.11 . synonymous SNV ENSG00000116863.11:ENST00000373178.5:exon1:c.G180A:p.P60P 1p34.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADPRS 17 0 15 3 0.166666666666667 TRUE NA +ENSG00000162664.17 . BCM GRCh38.p13 chr1 90020916 90020916 + G G A Silent SNP ENST00000340281.9 exon10 c.G1299A p.G433G exonic ENSG00000162664.17 . synonymous SNV ENSG00000162664.17:ENST00000340281.9:exon10:c.G1299A:p.G433G 1p22.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF326 117 0 67 18 0.211764705882353 TRUE TRUE +ENSG00000122482.21 . BCM GRCh38.p13 chr1 90916807 90916807 + T T A Silent SNP ENST00000337393.10 exon6 c.A3975T p.A1325A exonic ENSG00000122482.21 . synonymous SNV ENSG00000122482.21:ENST00000337393.10:exon6:c.A3975T:p.A1325A 1p22.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF644 345 0 294 65 0.181058495821727 TRUE TRUE +ENSG00000168509.20 . BCM GRCh38.p13 chr1 146019271 146019271 + G G A Silent SNP ENST00000336751.11 exon3 c.C561T p.V187V exonic ENSG00000168509.20 . synonymous SNV ENSG00000168509.20:ENST00000336751.11:exon3:c.C561T:p.V187V 1q21.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HJV 374 0 402 77 0.160751565762004 TRUE TRUE +ENSG00000144029.12 . BCM GRCh38.p13 chr2 95090509 95090509 + G G A Silent SNP ENST00000272418.7 exon11 c.C945T p.R315R exonic ENSG00000144029.12 . synonymous SNV ENSG00000144029.12:ENST00000272418.7:exon11:c.C945T:p.R315R 2q11.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRPS5 129 0 117 36 0.235294117647059 TRUE TRUE +ENSG00000074047.21 . BCM GRCh38.p13 chr2 120975002 120975002 + C C T Silent SNP ENST00000452319.5 exon9 c.C1261T p.L421L exonic ENSG00000074047.21 . synonymous SNV ENSG00000074047.21:ENST00000452319.5:exon9:c.C1261T:p.L421L 2q14.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLI2 303 1 290 75 0.205479452054795 TRUE TRUE +ENSG00000178343.5 . BCM GRCh38.p13 chr4 42401181 42401181 + C C A Silent SNP ENST00000319234.5 exon2 c.C447A p.I149I exonic ENSG00000178343.5 . synonymous SNV ENSG00000178343.5:ENST00000319234.5:exon2:c.C447A:p.I149I 4p13 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHISA3 520 0 390 105 0.212121212121212 TRUE TRUE +ENSG00000069020.18 . BCM GRCh38.p13 chr5 67164867 67164867 + C C T Silent SNP ENST00000403625.6 exon29 c.C5688T p.F1896F exonic ENSG00000069020.18 . synonymous SNV ENSG00000069020.18:ENST00000403625.6:exon29:c.C5688T:p.F1896F 5q12.3 C3N-01646 . . . . . . . . rs964081653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAST4 136 0 127 32 0.20125786163522 TRUE NA +ENSG00000196313.11 . BCM GRCh38.p13 chr7 72925151 72925151 + A A G Silent SNP ENST00000434423.4 exon1 c.A30G p.A10A exonic ENSG00000196313.11 . synonymous SNV ENSG00000196313.11:ENST00000434423.4:exon1:c.A30G:p.A10A 7q11.23 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POM121 63 0 49 23 0.319444444444444 NA TRUE +ENSG00000008282.8 . BCM GRCh38.p13 chr7 106091814 106091814 + G G T Silent SNP ENST00000011473.6 exon6 c.C771A p.T257T exonic ENSG00000008282.8 . synonymous SNV ENSG00000008282.8:ENST00000011473.6:exon6:c.C771A:p.T257T 7q22.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYPL1 136 0 103 22 0.176 TRUE TRUE +ENSG00000120896.13 . BCM GRCh38.p13 chr8 22565831 22565831 + G G A Silent SNP ENST00000240123.11 exon12 c.G909A p.S303S exonic ENSG00000120896.13 . synonymous SNV ENSG00000120896.13:ENST00000240123.11:exon12:c.G909A:p.S303S 8p21.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORBS3 29 0 15 4 0.210526315789474 TRUE TRUE +ENSG00000165684.4 . BCM GRCh38.p13 chr9 136378854 136378854 + A A T Silent SNP ENST00000298532.2 exon21 c.T2973A p.P991P exonic ENSG00000165684.4 . synonymous SNV ENSG00000165684.4:ENST00000298532.2:exon21:c.T2973A:p.P991P 9q34.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNAPC4 65 0 37 21 0.362068965517241 TRUE TRUE +ENSG00000117983.17 . BCM GRCh38.p13 chr11 1231490 1231490 + G G A Silent SNP ENST00000529681.5 exon14 c.G1608A p.L536L exonic ENSG00000117983.17 . synonymous SNV ENSG00000117983.17:ENST00000529681.5:exon14:c.G1608A:p.L536L 11p15.5 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5B 102 0 79 31 0.281818181818182 TRUE TRUE +ENSG00000170255.7 . BCM GRCh38.p13 chr11 18933984 18933984 + G G A Silent SNP ENST00000302797.4 exon1 c.C801T p.A267A exonic ENSG00000170255.7 . synonymous SNV ENSG00000170255.7:ENST00000302797.4:exon1:c.C801T:p.A267A 11p15.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRGPRX1 193 0 151 52 0.25615763546798 NA TRUE +ENSG00000110723.12 . BCM GRCh38.p13 chr11 108518350 108518350 + A A T Silent SNP ENST00000265843.9 exon5 c.T516A p.P172P exonic ENSG00000110723.12 . synonymous SNV ENSG00000110723.12:ENST00000265843.9:exon5:c.T516A:p.P172P 11q22.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXPH5 147 0 119 37 0.237179487179487 TRUE NA +ENSG00000180574.3 . BCM GRCh38.p13 chr12 10505980 10505980 + C C G Silent SNP ENST00000538173.1 exon1 c.C78G p.T26T exonic ENSG00000180574.3 . synonymous SNV ENSG00000180574.3:ENST00000538173.1:exon1:c.C78G:p.T26T 12p13.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF2S3B 354 0 328 93 0.220902612826603 TRUE TRUE +ENSG00000066084.13 . BCM GRCh38.p13 chr12 50505203 50505203 + G G A Silent SNP ENST00000301180.10 exon1 c.G63A p.R21R exonic ENSG00000066084.13 . synonymous SNV ENSG00000066084.13:ENST00000301180.10:exon1:c.G63A:p.R21R 12q13.12 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIP2B 292 2 200 48 0.193548387096774 NA TRUE +ENSG00000061987.16 . BCM GRCh38.p13 chr12 62556164 62556164 + C C T Silent SNP ENST00000393630.8 exon25 c.C3381T p.N1127N exonic ENSG00000061987.16 . synonymous SNV ENSG00000061987.16:ENST00000393630.8:exon25:c.C3381T:p.N1127N 12q14.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MON2 268 0 307 88 0.222784810126582 TRUE TRUE +ENSG00000188596.11 . BCM GRCh38.p13 chr12 96691307 96691307 + A A G Silent SNP ENST00000524981.9 exon44 c.A6261G p.L2087L exonic ENSG00000188596.11 . synonymous SNV ENSG00000188596.11:ENST00000524981.9:exon44:c.A6261G:p.L2087L 12q23.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP54 110 0 82 24 0.226415094339623 TRUE TRUE +ENSG00000138606.19 . BCM GRCh38.p13 chr15 45168121 45168121 + T T A Silent SNP ENST00000290894.12 exon8 c.A1098T p.G366G exonic ENSG00000138606.19 . synonymous SNV ENSG00000138606.19:ENST00000290894.12:exon8:c.A1098T:p.G366G 15q21.1 C3N-01646 . . . . . . . . . 3.15 T D . . . D . T N 0.083 T T T 0.069 . 0.526 . . T T T T T 1.066 12.410 0.963 D N 0.000 2.512 0.049 2.536 1.000 0.744 0.630 0.269 0.700 . 5.770 2.700 1.332 0.206 -0.132 1.000 1.000 0.985 616 . . . . SHF 46 0 44 13 0.228070175438596 TRUE TRUE +ENSG00000261732.1 . BCM GRCh38.p13 chr16 1645387 1645387 + C C A Unknown SNP NA NA NA NA exonic ENSG00000261732.1 . unknown UNKNOWN 16p13.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL031708.1 18 0 22 5 0.185185185185185 TRUE NA +ENSG00000175267.15 . BCM GRCh38.p13 chr16 22131591 22131591 + C C T Silent SNP ENST00000389398.10 exon19 c.C1734T p.A578A exonic ENSG00000175267.15 . synonymous SNV ENSG00000175267.15:ENST00000389398.10:exon19:c.C1734T:p.A578A 16p12.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA3A 55 0 62 11 0.150684931506849 TRUE TRUE +ENSG00000091592.16 . BCM GRCh38.p13 chr17 5514766 5514766 + T T A Silent SNP ENST00000572272.6 exon17 c.A4410T p.P1470P exonic ENSG00000091592.16 . synonymous SNV ENSG00000091592.16:ENST00000572272.6:exon17:c.A4410T:p.P1470P 17p13.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLRP1 136 0 108 35 0.244755244755245 TRUE TRUE +ENSG00000141756.19 . BCM GRCh38.p13 chr17 41822360 41822360 + C C A Silent SNP ENST00000321562.9 exon10 c.C1701A p.L567L exonic ENSG00000141756.19 . synonymous SNV ENSG00000141756.19:ENST00000321562.9:exon10:c.C1701A:p.L567L 17q21.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54057514;OCCURENCE=1(liver) FKBP10 390 1 396 83 0.173277661795407 TRUE TRUE +ENSG00000173826.14 . BCM GRCh38.p13 chr17 63533915 63533915 + G G T Silent SNP ENST00000583023.1 exon5 c.G705T p.P235P exonic ENSG00000173826.14 . synonymous SNV ENSG00000173826.14:ENST00000583023.1:exon5:c.G705T:p.P235P 17q23.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH6 134 0 108 30 0.217391304347826 TRUE TRUE +ENSG00000134775.15 . BCM GRCh38.p13 chr18 36718400 36718400 + C C T Silent SNP ENST00000359247.8 exon15 c.C2526T p.P842P exonic ENSG00000134775.15 . synonymous SNV ENSG00000134775.15:ENST00000359247.8:exon15:c.C2526T:p.P842P 18q12.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99942477;OCCURENCE=1(skin) FHOD3 131 0 89 23 0.205357142857143 TRUE TRUE +ENSG00000129351.17 . BCM GRCh38.p13 chr19 10689240 10689240 + C C T Silent SNP ENST00000590261.5 exon19 c.C2613T p.P871P exonic ENSG00000129351.17 . synonymous SNV ENSG00000129351.17:ENST00000590261.5:exon19:c.C2613T:p.P871P 19p13.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ILF3 94 0 78 29 0.271028037383178 TRUE TRUE +ENSG00000171773.3 . BCM GRCh38.p13 chr19 17455887 17455887 + G G T Silent SNP ENST00000301944.3 exon2 c.C399A p.L133L exonic ENSG00000171773.3;ENSG00000269035.1 . synonymous SNV ENSG00000171773.3:ENST00000301944.3:exon2:c.C399A:p.L133L,ENSG00000269035.1:ENST00000594663.1:exon2:c.C120A:p.L40L 19p13.11 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NXNL1 126 0 125 32 0.203821656050955 TRUE TRUE +ENSG00000269190.6 . BCM GRCh38.p13 chr19 38942749 38942749 + G G C Silent SNP ENST00000292852.9 exon6 c.C696G p.V232V exonic ENSG00000269190.6;ENSG00000269547.1 . synonymous SNV ENSG00000269190.6:ENST00000292852.9:exon6:c.C696G:p.V232V 19q13.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXO17 107 0 53 7 0.116666666666667 TRUE NA +ENSG00000141946.1 . BCM GRCh38.p13 chr19 57135455 57135455 + G G T Silent SNP ENST00000269834.1 exon5 c.C882A p.L294L exonic ENSG00000141946.1 . synonymous SNV ENSG00000141946.1:ENST00000269834.1:exon5:c.C882A:p.L294L 19q13.43 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZIM3 152 0 120 18 0.130434782608696 TRUE TRUE +ENSG00000125812.16 . BCM GRCh38.p13 chr20 23364722 23364722 + T T C Silent SNP ENST00000338121.10 exon2 c.T339C p.A113A exonic ENSG00000125812.16 . synonymous SNV ENSG00000125812.16:ENST00000338121.10:exon2:c.T339C:p.A113A 20p11.21 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GZF1 161 0 127 43 0.252941176470588 TRUE TRUE +ENSG00000159259.8 . BCM GRCh38.p13 chr21 36387663 36387663 + T T A Silent SNP ENST00000314103.6 exon3 c.T192A p.R64R exonic ENSG00000159259.8 . synonymous SNV ENSG00000159259.8:ENST00000314103.6:exon3:c.T192A:p.R64R 21q22.12 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHAF1B 178 1 180 45 0.2 TRUE TRUE +ENSG00000100154.14 . BCM GRCh38.p13 chr22 27998643 27998643 + G G A Silent SNP ENST00000397906.6 exon16 c.C5016T p.F1672F exonic ENSG00000100154.14 . synonymous SNV ENSG00000100154.14:ENST00000397906.6:exon16:c.C5016T:p.F1672F 22q12.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC28 307 0 256 51 0.166123778501629 TRUE TRUE +ENSG00000116209.12 . BCM GRCh38.p13 chr1 54045687 54045687 + C C A Intron SNP NA NA NA NA intronic ENSG00000116209.12 . . . 1p32.3 C3N-01646 . . . . . . . . . 4.14 T D . . . D . T N 0.229 T T T 0.099 0.375 0.393 . . . T T T T 2.584 22.600 0.997 D D 0.831 9.411 0.601 6.234 0.997 0.707 0.725 0.602 0.714 . 4.370 4.370 5.273 1.026 0.549 0.998 0.974 0.981 825 . . . . TMEM59 148 0 172 37 0.177033492822967 TRUE NA +ENSG00000072195.15 . BCM GRCh38.p13 chr2 219444019 219444031 + TGGAAGCGAAGTT TGGAAGCGAAGTT - Intron DEL NA NA NA NA intronic ENSG00000072195.15 . . . 2q35 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPEG 331 0 242 53 0.179661016949153 TRUE NA +ENSG00000248727.6 . BCM GRCh38.p13 chr5 56457918 56457918 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000248727.6 . . . 5q11.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01948 143 0 175 35 0.166666666666667 TRUE NA +ENSG00000151917.18 . BCM GRCh38.p13 chr6 57014517 57014517 + T T A Intron SNP NA NA NA NA intronic ENSG00000151917.18 . . . 6p12.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BEND6 70 0 29 6 0.171428571428571 TRUE NA +ENSG00000254838.5 . BCM GRCh38.p13 chr11 6715393 6715393 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254838.5 . . . 11p15.4 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GVINP1 45 0 52 16 0.235294117647059 TRUE NA +ENSG00000150672.17 . BCM GRCh38.p13 chr11 84316885 84316885 + C C T Intron SNP NA NA NA NA intronic ENSG00000150672.17 . . . 11q14.1 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DLG2 157 0 147 35 0.192307692307692 TRUE NA +ENSG00000199575.1 . BCM GRCh38.p13 chr14 100949840 100949840 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199575.1 . . . 14q32.31 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD114-1 94 0 71 28 0.282828282828283 TRUE NA +ENSG00000154118.13 . BCM GRCh38.p13 chr16 87702431 87702431 + T T G IGR SNP NA NA NA NA intergenic ENSG00000154118.13;ENSG00000104731.14 dist=4275;dist=5381 . . 16q24.2 C3N-01646 . . . . . . . . . 2.10 . T . . . . . . D 0.201 T T D 0.077 0.069 0.067 . . T T T T . -0.218 0.467 0.805 N . -0.783 0.679 -1.006 0.482 1.000 0.731 0.750 0.692 0.192 . 2.130 -0.503 -2.961 -0.111 -0.380 0.000 0.000 0.000 958 . . . . JPH3 14 0 7 4 0.363636363636364 TRUE NA +ENSG00000234773.7 . BCM GRCh38.p13 chr19 12248443 12248444 + AT AT - IGR DEL NA NA NA NA intergenic ENSG00000234773.7;ENSG00000213293.4 dist=38637;dist=11682 . . 19p13.2 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC012618.3 147 0 100 32 0.242424242424242 TRUE NA +ENSG00000101191.17 . BCM GRCh38.p13 chr20 62905862 62905862 + A A T Intron SNP NA NA NA NA intronic ENSG00000101191.17 . . . 20q13.33 C3N-01646 . . . . . . . . . 2.16 D T D P . N . T N 0.224 T T T 0.085 0.395 0.103 . . . T T T T 0.388 5.298 0.945 N N -0.417 1.347 -0.628 1.004 0.998 0.672 0.702 0.702 0.636 . 5.070 -3.960 0.212 0.272 0.756 0.061 0.021 0.969 789 . . . . DIDO1 198 0 218 67 0.235087719298246 TRUE NA +ENSG00000159884.12 . BCM GRCh38.p13 chr9 35658692 35658694 + GCC GCC ACG Unknown MNP ENST00000426546.7 exon2 c.223_225delinsACG p.A75T exonic ENSG00000159884.12 . nonframeshift substitution ENSG00000159884.12:ENST00000426546.7:exon2:c.223_225delinsACG:p.A75T 9p13.3 C3N-01646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC107 126 0 59 18 0.233766233766234 NA TRUE +ENSG00000182329.14 . BCM GRCh38.p13 chr2 202138464 202138464 + A A G Missense_Mutation SNP ENST00000498697.3 exon13 c.A1864G p.N622D exonic ENSG00000182329.14 . nonsynonymous SNV ENSG00000182329.14:ENST00000498697.3:exon13:c.A1864G:p.N622D 2q33.1 C3N-01648 . . . . . . . . . 0.13 . T . . N N . . . 0.087 T T . 0.058 . 0.030 . T T T T T T 0.966 11.190 0.967 N N -0.996 0.408 -1.065 0.412 0.003 0.487 0.574 0.547 0.542 . 4.650 -3.410 0.113 1.312 0.658 0.002 0.565 0.760 360 . . . . KIAA2012 173 1 72 4 0.0526315789473684 TRUE NA +ENSG00000154415.8 . BCM GRCh38.p13 chr7 113880002 113880002 + C C A Nonsense_Mutation SNP ENST00000284601.4 exon4 c.G1090T p.E364X exonic ENSG00000154415.8 . stopgain ENSG00000154415.8:ENST00000284601.4:exon4:c.G1090T:p.E364X 7q31.1 C3N-01648 . . . . . . . . . 4.6 . . . . N D . . . 0.727 . . . . . . . . . D D . . 6.030 35 0.996 D N 0.667 6.681 0.412 4.447 0.005 0.487 0.574 0.574 0.564 . 5.620 4.740 2.226 1.026 0.599 0.808 0.188 0.839 801 . . . ID=COSV52892378;OCCURENCE=1(large_intestine) PPP1R3A 113 0 59 4 0.0634920634920635 TRUE NA +ENSG00000164941.14 . BCM GRCh38.p13 chr8 94825066 94825066 + A A G Missense_Mutation SNP ENST00000523731.6 exon2 c.A304G p.S102G exonic ENSG00000164941.14 . nonsynonymous SNV ENSG00000164941.14:ENST00000523731.6:exon2:c.A304G:p.S102G 8q22.1 C3N-01648 . . . . . . . . . 6.19 T T B B D D N . N 0.257 T T T 0.062 0.256 0.068 0.197 T T T T D D 4.092 27.700 0.981 D D -0.139 2.055 0.061 2.580 1.000 0.660 0.686 0.731 0.651 . 4.660 4.660 6.735 1.312 0.756 1.000 0.998 0.967 410 . . . . INTS8 77 1 41 3 0.0681818181818182 TRUE NA +ENSG00000168803.15 . BCM GRCh38.p13 chr15 43335825 43335825 + G G T Nonsense_Mutation SNP ENST00000562188.6 exon5 c.G193T p.E65X exonic ENSG00000168803.15 . stopgain ENSG00000168803.15:ENST00000562188.6:exon5:c.G193T:p.E65X 15q15.3 C3N-01648 . . . . . . . . . 6.6 . . . . D A . . . 0.912 . . . . . . . . . D D . . 7.492 38 0.995 D D 1.085 16.867 0.924 14.822 0.688 0.732 0.744 0.725 0.668 . 5.500 4.580 7.525 1.176 0.676 1.000 1.000 0.998 15 Adenosine/AMP_deaminase_domain . . . ADAL 97 0 51 4 0.0727272727272727 TRUE NA +ENSG00000130584.11 . BCM GRCh38.p13 chr20 63747302 63747302 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000130584.11 ENST00000395104.5:exon4:c.1399-1G>T . . 20q13.33 C3N-01648 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.497 34 0.991 D . 0.849 9.812 0.617 6.449 1.000 0.091 0.094 0.129 0.079 0.756 4.140 4.140 3.059 0.936 0.585 1.000 0.904 0.285 . . . . . ZBTB46 26 0 33 3 0.0833333333333333 TRUE NA +ENSG00000130725.8 . BCM GRCh38.p13 chr19 58556737 58556737 + G G T Silent SNP ENST00000253023.8 exon4 c.C297A p.V99V exonic ENSG00000130725.8 . synonymous SNV ENSG00000130725.8:ENST00000253023.8:exon4:c.C297A:p.V99V 19q13.43 C3N-01648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53397937;OCCURENCE=1(liver) UBE2M 18 0 38 3 0.0731707317073171 TRUE NA +ENSG00000162521.19 . BCM GRCh38.p13 chr1 32669302 32669302 + G G A Missense_Mutation SNP ENST00000373493.10 exon7 c.G833A p.C278Y exonic ENSG00000162521.19 . nonsynonymous SNV ENSG00000162521.19:ENST00000373493.10:exon7:c.G833A:p.C278Y 1p35.1 C3N-01649 . . . . . . . . . 13.20 D T D P D D M T D 0.833 T T D 0.643 0.713 0.850 4.141 D T D D D T 4.183 28.500 0.995 D D 0.652 6.494 0.674 7.287 1.000 0.707 0.702 0.702 0.714 . 4.910 4.910 10.003 1.161 0.618 1.000 1.000 0.997 202 WD40-repeat-containing_domain . . . RBBP4 150 0 218 64 0.226950354609929 NA TRUE +ENSG00000163344.6 . BCM GRCh38.p13 chr1 154926414 154926414 + T T C Missense_Mutation SNP ENST00000368467.4 exon4 c.A382G p.T128A exonic ENSG00000163344.6 . nonsynonymous SNV ENSG00000163344.6:ENST00000368467.4:exon4:c.A382G:p.T128A 1q21.3 C3N-01649 . . . . . . . . . 3.20 T T B B N D M T N 0.533 T T T 0.039 0.342 0.348 0.432 T T T T T T 1.326 14.570 0.908 D N -0.447 1.283 -0.362 1.443 0.996 0.707 0.702 0.725 0.714 . 4.590 3.380 0.666 1.138 0.665 0.947 0.017 0.005 338 . . . . PMVK 148 0 158 19 0.107344632768362 TRUE TRUE +ENSG00000000460.17 . BCM GRCh38.p13 chr1 169806084 169806084 + A A G Missense_Mutation SNP ENST00000359326.9 exon8 c.A559G p.I187V exonic ENSG00000000460.17 . nonsynonymous SNV ENSG00000000460.17:ENST00000359326.9:exon8:c.A559G:p.I187V 1q24.2 C3N-01649 . . . . . . . . . 8.19 T D D D D D M T N 0.200 T T T 0.231 0.542 0.466 0.129 . T T T D T 3.125 23.700 0.999 D N 0.641 6.368 0.601 6.239 1.000 0.651 0.709 0.651 0.684 . 5.150 5.150 3.493 1.312 0.756 1.000 1.000 0.995 485 . . . . C1orf112 168 0 182 56 0.235294117647059 TRUE TRUE +ENSG00000134326.11 . BCM GRCh38.p13 chr2 6865164 6865164 + T T C Missense_Mutation SNP ENST00000256722.9 exon1 c.A533G p.E178G exonic ENSG00000134326.11 . nonsynonymous SNV ENSG00000134326.11:ENST00000256722.9:exon1:c.A533G:p.E178G 2p25.2 C3N-01649 . . . . . . . . . 2.20 T T B B N N N T N 0.097 T T D 0.023 0.308 0.115 0.398 T T T T T T 0.211 3.248 0.927 D N -1.417 0.110 -1.505 0.106 1.000 0.455 0.219 0.607 0.568 . 4.270 -5.220 -0.866 -0.370 -0.177 0.000 0.091 0.054 968 . . . . CMPK2 114 0 92 42 0.313432835820896 TRUE TRUE +ENSG00000121152.10 . BCM GRCh38.p13 chr2 96369024 96369024 + A A G Missense_Mutation SNP ENST00000240423.9 exon16 c.A2051G p.E684G exonic ENSG00000121152.10 . nonsynonymous SNV ENSG00000121152.10:ENST00000240423.9:exon16:c.A2051G:p.E684G 2q11.2 C3N-01649 . . . . . . . . . 6.20 D T B B N D M T D 0.048 T T T 0.113 0.595 0.569 0.232 T T T T D T 2.911 23.200 0.994 D N -0.426 1.326 -0.351 1.462 0.940 0.707 0.725 0.725 0.714 . 5.790 3.440 4.581 1.308 0.754 0.999 0.602 0.034 287 . . . . NCAPH 168 0 198 43 0.178423236514523 TRUE TRUE +ENSG00000172985.11 . BCM GRCh38.p13 chr2 109129764 109129764 + A A G Missense_Mutation SNP ENST00000309415.8 exon1 c.A224G p.H75R exonic ENSG00000172985.11 . nonsynonymous SNV ENSG00000172985.11:ENST00000309415.8:exon1:c.A224G:p.H75R 2q13 C3N-01649 . . . . . . . . . 17.18 D D D D . D . D D 0.210 D D D 0.741 0.944 0.747 0.838 D T D D D D 3.870 26.200 0.991 D D 0.395 4.312 0.295 3.687 1.000 0.652 0.749 0.607 0.562 . 3.910 3.910 2.782 1.086 0.629 1.000 0.999 0.006 397 Zinc_finger,_RING-type;Zinc_finger,_RING-type,_conserved_site . . . SH3RF3 180 0 198 63 0.241379310344828 TRUE TRUE +ENSG00000136531.17 . BCM GRCh38.p13 chr2 165367222 165367226 + GTACG GTACG - Frame_Shift_Del DEL ENST00000375437.7 exon19 c.3526_3530del p.V1176Efs*26 exonic ENSG00000136531.17 . frameshift deletion ENSG00000136531.17:ENST00000375437.7:exon19:c.3526_3530del:p.V1176Efs*26 2q24.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN2A 354 0 378 93 0.197452229299363 TRUE TRUE +ENSG00000144579.7 . BCM GRCh38.p13 chr2 218404385 218404385 + A A G Missense_Mutation SNP ENST00000273062.6 exon7 c.A746G p.D249G exonic ENSG00000144579.7 . nonsynonymous SNV ENSG00000144579.7:ENST00000273062.6:exon7:c.A746G:p.D249G 2q35 C3N-01649 . . . . . . . . . 13.20 D D P P D D M T D 0.799 D D D 0.474 0.819 0.434 1.369 T T T T D D 4.328 29.800 0.998 D D 0.652 6.496 0.590 6.097 1.000 0.707 0.696 0.688 0.714 . 5.320 5.320 9.260 1.312 0.691 1.000 1.000 0.996 904 FCP1_homology_domain;Dullard_phosphatase_domain,_eukaryotic . . . CTDSP1 175 0 184 48 0.206896551724138 TRUE TRUE +ENSG00000144481.17 . BCM GRCh38.p13 chr2 233960931 233960931 + C C G Nonsense_Mutation SNP ENST00000324695.9 exon12 c.C1518G p.Y506X exonic ENSG00000144481.17 . stopgain ENSG00000144481.17:ENST00000324695.9:exon12:c.C1518G:p.Y506X 2q37.1 C3N-01649 . . . . . . . . . 5.6 . . . . D A . . . 0.900 . . . . . . . . . D D . . 5.478 34 0.995 D N 0.115 2.946 -0.104 2.036 0.000 0.487 0.574 0.547 0.564 . 5.800 -1.100 -0.387 -0.745 -0.202 0.728 0.927 0.961 923 . . . . TRPM8 359 1 487 78 0.138053097345133 TRUE TRUE +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10146565 10146565 + A A T Missense_Mutation SNP ENST00000256474.3 exon2 c.A392T p.N131I exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon2:c.A392T:p.N131I 3p25.3 C3N-01649 . . . . . . . . . 18.19 . D D D D D M D D 0.961 D D D 0.904 0.768 0.999 1.204 T D D D D D 4.159 28.300 0.992 D D 0.686 6.925 0.638 6.739 1.000 0.732 0.686 0.744 0.735 . 5.070 5.070 7.167 1.312 0.756 1.000 1.000 0.987 370 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . . VHL 360 2 257 102 0.284122562674095 TRUE TRUE +ENSG00000008300.17 . BCM GRCh38.p13 chr3 48653702 48653702 + G G - Frame_Shift_Del DEL ENST00000164024.5 exon9 c.5365delC p.L1789Wfs*14 exonic ENSG00000008300.17 . frameshift deletion ENSG00000008300.17:ENST00000164024.5:exon9:c.5365delC:p.L1789Wfs*14 3p21.31 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CELSR3 160 0 132 45 0.254237288135593 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52617532 52617538 + CTTTTTA CTTTTTA - Frame_Shift_Del DEL ENST00000296302.11 exon14 c.1542_1548del p.S514Rfs*3 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon14:c.1542_1548del:p.S514Rfs*3 3p21.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 103 0 77 37 0.324561403508772 TRUE TRUE +ENSG00000173230.15 . BCM GRCh38.p13 chr3 121692499 121692499 + C C A Missense_Mutation SNP ENST00000340645.9 exon14 c.G6850T p.G2284W exonic ENSG00000173230.15 . nonsynonymous SNV ENSG00000173230.15:ENST00000340645.9:exon14:c.G6850T:p.G2284W 3q13.33 C3N-01649 . . . . . . . . . 8.20 D T D D N N M T N 0.480 T T T 0.148 0.218 0.391 0.520 T T T T D D 3.967 26.800 0.983 D D 0.684 6.899 0.692 7.601 1.000 0.719 0.723 0.725 0.714 . 5.910 5.910 6.536 1.026 0.599 0.993 0.610 0.974 395 Leucine_zipper,_homeobox-associated . . . GOLGB1 140 0 196 28 0.125 TRUE TRUE +ENSG00000175455.15 . BCM GRCh38.p13 chr3 123961232 123961232 + T T G Missense_Mutation SNP ENST00000488653.6 exon1 c.A86C p.N29T exonic ENSG00000175455.15 . nonsynonymous SNV ENSG00000175455.15:ENST00000488653.6:exon1:c.A86C:p.N29T 3q21.1 C3N-01649 . . . . . . . . . 4.18 D D B B . N L T N 0.643 T T D 0.082 0.166 0.426 0.231 T . T T T T 2.509 22.400 0.805 D N -0.422 1.335 -0.419 1.339 1.000 0.267 0.484 0.520 0.373 . 3.430 0.976 0.749 0.128 0.665 0.993 0.565 0.688 792 . . . . CCDC14 172 1 190 45 0.191489361702128 TRUE TRUE +ENSG00000132405.19 . BCM GRCh38.p13 chr4 6996344 6996344 + G G A Missense_Mutation SNP ENST00000409757.9 exon5 c.G982A p.A328T exonic ENSG00000132405.19 . nonsynonymous SNV ENSG00000132405.19:ENST00000409757.9:exon5:c.G982A:p.A328T 4p16.1 C3N-01649 . . . . . . . . . 7.20 T T B B D D M T N 0.255 T T T 0.147 0.191 0.340 0.808 T T T T D D 3.074 23.600 0.996 D D 0.289 3.724 0.445 4.691 1.000 0.732 0.725 0.744 0.714 . 5.600 5.600 9.325 1.147 0.667 1.000 1.000 0.999 873 . . . . TBC1D14 232 0 273 82 0.230985915492958 TRUE TRUE +ENSG00000138759.19 . BCM GRCh38.p13 chr4 78496902 78496902 + G G A Missense_Mutation SNP ENST00000512123.4 exon60 c.G9056A p.S3019N exonic ENSG00000138759.19 . nonsynonymous SNV ENSG00000138759.19:ENST00000512123.4:exon60:c.G9056A:p.S3019N 4q21.21 C3N-01649 . . . . . . . . . 6.13 . T . . D D . . . 0.736 T T T 0.159 . 0.766 . T . T T D D 3.905 26.400 0.996 D D 0.650 6.474 0.634 6.681 0.017 0.707 0.547 0.725 0.586 . 5.420 4.520 5.318 1.121 0.676 1.000 0.999 0.991 911 . . . . FRAS1 220 0 256 72 0.219512195121951 TRUE TRUE +ENSG00000170185.10 . BCM GRCh38.p13 chr4 143209637 143209637 + G G - Frame_Shift_Del DEL ENST00000307017.9 exon7 c.1477delG p.A493Pfs*51 exonic ENSG00000170185.10 . frameshift deletion ENSG00000170185.10:ENST00000307017.9:exon7:c.1477delG:p.A493Pfs*51 4q31.21 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP38 185 0 225 18 0.0740740740740741 NA TRUE +ENSG00000164363.10 . BCM GRCh38.p13 chr5 1240579 1240579 + G G T Missense_Mutation SNP ENST00000324642.4 exon7 c.G894T p.M298I exonic ENSG00000164363.10 . nonsynonymous SNV ENSG00000164363.10:ENST00000324642.4:exon7:c.G894T:p.M298I 5p15.33 C3N-01649 . . . . . . . . . 3.20 T T B B N D L T N 0.099 T T D 0.054 0.322 0.767 0.210 T T T T T T 2.185 20.800 0.946 D N -0.333 1.535 -0.175 1.847 0.911 0.497 0.590 0.578 0.613 . 4.510 4.510 0.665 1.121 0.676 0.992 0.999 0.859 946 . . . ID=COSV57252439;OCCURENCE=1(lung) SLC6A18 206 0 211 58 0.215613382899628 TRUE TRUE +ENSG00000113441.16 . BCM GRCh38.p13 chr5 96993913 96993913 + C C A Missense_Mutation SNP ENST00000231368.10 exon6 c.C1349A p.S450Y exonic ENSG00000113441.16 . nonsynonymous SNV ENSG00000113441.16:ENST00000231368.10:exon6:c.C1349A:p.S450Y 5q15 C3N-01649 . . . . . . . . rs996179795 13.20 D D D D D D M T D 0.598 T T D 0.380 0.740 0.333 0.846 T T D T D T 3.727 25.500 0.996 D D 0.847 9.760 0.774 9.385 1.000 0.707 0.725 0.618 0.684 . 4.890 4.890 6.164 1.015 0.599 1.000 0.917 0.982 882 Peptidase_M1,_membrane_alanine_aminopeptidase,_N-terminal . . . LNPEP 183 0 215 47 0.179389312977099 TRUE TRUE +ENSG00000169302.16 . BCM GRCh38.p13 chr5 147279250 147279250 + T T A Missense_Mutation SNP ENST00000397936.8 exon4 c.T112A p.C38S exonic ENSG00000169302.16 . nonsynonymous SNV ENSG00000169302.16:ENST00000397936.8:exon4:c.T112A:p.C38S 5q32 C3N-01649 . . . . . . . . . 13.20 T T D D D D N T D 0.881 T T D 0.402 0.687 0.482 0.435 D T D D D D 3.992 26.900 0.991 D D 0.516 5.164 0.567 5.834 1.000 0.554 0.574 0.618 0.542 . 5.530 5.530 7.969 1.138 0.665 1.000 0.894 0.922 842 Protein_kinase_domain;Protein_kinase,_ATP_binding_site . . . STK32A 60 0 81 19 0.19 TRUE TRUE +ENSG00000135074.16 . BCM GRCh38.p13 chr5 157518879 157518879 + C C G Missense_Mutation SNP ENST00000517905.1 exon7 c.G610C p.E204Q exonic ENSG00000135074.16 . nonsynonymous SNV ENSG00000135074.16:ENST00000517905.1:exon7:c.G610C:p.E204Q 5q33.3 C3N-01649 . . . . . . . . . 8.20 D T D D D D M T N 0.218 T T T 0.158 0.297 0.745 1.313 T T T T D T 3.639 25.200 0.998 D N 0.641 6.374 0.628 6.598 1.000 0.707 0.623 0.659 0.714 . 5.460 5.460 2.107 1.026 0.599 1.000 1.000 0.999 894 . . . . ADAM19 210 0 266 15 0.0533807829181495 TRUE TRUE +ENSG00000160883.11 . BCM GRCh38.p13 chr5 176890835 176890835 + G G A Missense_Mutation SNP ENST00000292432.10 exon5 c.C521T p.T174M exonic ENSG00000160883.11 . nonsynonymous SNV ENSG00000160883.11:ENST00000292432.10:exon5:c.C521T:p.T174M 5q35.2 C3N-01649 0.0023 0.0008 0.0010 0.0001 0.0003 0.0039 0 0 rs141123858 16.20 D D D D D D M D D 0.458 D D D 0.642 . 0.988 0.551 T D T D T T 3.997 27.000 0.999 D D 0.792 8.622 0.737 8.500 1.000 0.516 0.610 0.547 0.542 . 4.790 4.790 6.780 1.176 0.676 1.000 0.989 0.990 564 Hexokinase,_N-terminal . . . HK3 198 0 291 29 0.090625 TRUE TRUE +ENSG00000204463.12 . BCM GRCh38.p13 chr6 31640815 31640815 + G G A Missense_Mutation SNP ENST00000375964.10 exon20 c.C2821T p.R941C exonic ENSG00000204463.12 . nonsynonymous SNV ENSG00000204463.12:ENST00000375964.10:exon20:c.C2821T:p.R941C 6p21.33 C3N-01649 . . . . . . . . . 11.19 D D D D D D L T N 0.517 T T T 0.164 0.439 0.782 0.867 T T D D D . 3.715 25.500 0.999 D D 0.557 5.516 0.559 5.749 0.999 0.707 0.702 0.698 0.714 . 5.260 4.370 3.699 1.167 0.668 1.000 0.977 0.930 889 . . . . BAG6 131 0 169 54 0.242152466367713 TRUE NA +ENSG00000111897.7 . BCM GRCh38.p13 chr6 122451698 122451698 + C C T Missense_Mutation SNP ENST00000339697.5 exon7 c.G816A p.M272I exonic ENSG00000111897.7 . nonsynonymous SNV ENSG00000111897.7:ENST00000339697.5:exon7:c.G816A:p.M272I 6q22.31 C3N-01649 . . . . . . . . . 10.20 T T B B D D M T N 0.838 T T T 0.222 0.571 0.283 0.179 D T D D D D 2.546 22.500 0.990 D D 0.168 3.164 0.340 3.959 1.000 0.732 0.744 0.744 0.714 . 5.610 5.610 6.068 1.026 0.599 1.000 1.000 0.999 724 . . . . SERINC1 117 0 104 26 0.2 TRUE TRUE +ENSG00000120262.10 . BCM GRCh38.p13 chr6 151538187 151538187 + A A C Missense_Mutation SNP ENST00000239374.8 exon3 c.A329C p.E110A exonic ENSG00000120262.10 . nonsynonymous SNV ENSG00000120262.10:ENST00000239374.8:exon3:c.A329C:p.E110A 6q25.1 C3N-01649 . . . . . . . . . 7.20 D T P B N D M T D 0.376 T T T 0.108 0.152 0.198 0.356 T T T T D T 2.942 23.300 0.976 D D 0.058 2.722 0.072 2.622 1.000 0.554 0.574 0.602 0.634 . 5.680 5.680 4.623 1.308 0.756 0.995 1.000 0.625 958 . . . . CCDC170 306 1 244 112 0.314606741573034 TRUE TRUE +ENSG00000135253.14 . BCM GRCh38.p13 chr7 128884055 128884055 + G G A Missense_Mutation SNP ENST00000613019.4 exon29 c.C3203T p.P1068L exonic ENSG00000135253.14 . nonsynonymous SNV ENSG00000135253.14:ENST00000613019.4:exon29:c.C3203T:p.P1068L 7q32.1 C3N-01649 . . . . . . . . . 5.7 . D . . . . . . . 0.324 . . . . . 0.269 . T T D D . D 3.392 24.400 0.906 D . . . . . 1.000 0.076 0.090 0.048 0.058 0.820 4.550 3.670 5.886 0.218 -0.149 1.000 0.243 0.875 559 VWFC_domain . . . KCP 79 0 149 15 0.0914634146341463 TRUE NA +ENSG00000230549.3 . BCM GRCh38.p13 chr8 7333260 7333260 + G G A Missense_Mutation SNP ENST00000529559.1 exon1 c.G874A p.A292T exonic ENSG00000230549.3 . nonsynonymous SNV ENSG00000230549.3:ENST00000529559.1:exon1:c.G874A:p.A292T 8p23.1 C3N-01649 . . . . . . . . . 0.8 . T . . . . N . . 0.086 . . . . . 0.072 . T T T T . T 0.414 5.577 0.373 N . . . . . 0.000 0.061 0.063 0.063 0.057 0.044 0.598 -1.200 -0.038 -0.253 0.301 0.000 0.008 0.395 994 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP17L1 154 0 140 56 0.285714285714286 NA TRUE +ENSG00000173273.16 . BCM GRCh38.p13 chr8 9706843 9706843 + G G A Nonsense_Mutation SNP ENST00000310430.11 exon8 c.G1302A p.W434X exonic ENSG00000173273.16 . stopgain ENSG00000173273.16:ENST00000310430.11:exon8:c.G1302A:p.W434X 8p23.1 C3N-01649 . . . . . . . . . 5.6 . . . . D A . . . 0.962 . . . . . . . . . D D . . 8.581 44 0.997 D N 1.143 19.635 1.031 20.868 1.000 0.706 0.654 0.710 0.714 . 5.670 5.670 9.982 1.176 0.676 1.000 1.000 1.000 747 Ankyrin_repeat-containing_domain . . . TNKS 222 1 173 58 0.251082251082251 TRUE TRUE +ENSG00000175806.15 . BCM GRCh38.p13 chr8 10428170 10428170 + G G T Missense_Mutation SNP ENST00000317173.9 exon6 c.G566T p.G189V exonic ENSG00000175806.15 . nonsynonymous SNV ENSG00000175806.15:ENST00000317173.9:exon6:c.G566T:p.G189V 8p23.1 C3N-01649 . . . . . . . . . 15.18 D D D D D D M . D 0.768 T T D 0.256 0.520 0.290 0.003 T D D D D . 3.298 24.100 0.996 D D 0.256 3.563 0.106 2.759 1.000 0.693 0.670 0.659 0.564 . 4.780 3.910 6.702 1.176 0.676 1.000 0.304 0.357 940 Peptide_methionine_sulphoxide_reductase_MsrA . . . MSRA 121 0 131 24 0.154838709677419 TRUE TRUE +ENSG00000185942.11 . BCM GRCh38.p13 chr8 62918466 62918466 + T T C Missense_Mutation SNP ENST00000523211.5 exon5 c.T485C p.V162A exonic ENSG00000185942.11 . nonsynonymous SNV ENSG00000185942.11:ENST00000523211.5:exon5:c.T485C:p.V162A 8q12.3 C3N-01649 . . . . . . . . . 9.20 D D P B D D M T D 0.602 T T T 0.240 0.704 0.491 1.343 T T T T D T 3.442 24.500 0.999 D D 0.516 5.165 0.570 5.868 0.163 0.554 0.574 0.618 0.564 . 5.880 5.880 5.175 1.138 0.609 1.000 1.000 0.996 923 . . . . NKAIN3 287 0 340 36 0.0957446808510638 TRUE NA +ENSG00000147570.10 . BCM GRCh38.p13 chr8 66076738 66076738 + C C G Missense_Mutation SNP ENST00000276570.10 exon4 c.C198G p.N66K exonic ENSG00000147570.10 . nonsynonymous SNV ENSG00000147570.10:ENST00000276570.10:exon4:c.C198G:p.N66K 8q13.1 C3N-01649 . . . . . . . . . 4.20 T T P B D D N T D 0.401 T T T 0.187 0.561 0.192 0.207 T T T T D T -0.822 0.022 0.981 N N -1.001 0.403 -0.988 0.504 0.998 0.638 0.670 0.547 0.542 . 5.730 -6.840 -0.874 -0.231 -0.840 0.022 0.993 0.561 896 DnaJ_domain;DnaJ_domain,_conserved_site . . . DNAJC5B 391 0 413 117 0.220754716981132 TRUE TRUE +ENSG00000147576.17 . BCM GRCh38.p13 chr8 66454077 66454077 + T T A Missense_Mutation SNP ENST00000396623.8 exon10 c.T906A p.D302E exonic ENSG00000147576.17 . nonsynonymous SNV ENSG00000147576.17:ENST00000396623.8:exon10:c.T906A:p.D302E 8q13.1 C3N-01649 8.239e-06 0 0 0 0 1.499e-05 0 0 rs749339000 3.20 T T B B D D N T N 0.146 T T T 0.105 0.328 0.213 0.053 T T T T T D 0.659 8.077 0.940 N N -0.781 0.684 -0.643 0.982 1.000 0.638 0.670 0.659 0.568 . 5.680 0.398 -0.439 0.202 -0.123 0.344 0.997 0.977 801 Alcohol_dehydrogenase,_iron-type/glycerol_dehydrogenase_GldA . . . ADHFE1 199 0 246 37 0.130742049469965 TRUE NA +ENSG00000164944.12 . BCM GRCh38.p13 chr8 94527043 94527043 + C C G Missense_Mutation SNP ENST00000297591.10 exon8 c.G1201C p.V401L exonic ENSG00000164944.12 . nonsynonymous SNV ENSG00000164944.12:ENST00000297591.10:exon8:c.G1201C:p.V401L 8q22.1 C3N-01649 . . . . . . . . . 13.20 D D D D D D L T N 0.672 T T D 0.282 0.274 0.313 0.968 T T D D D D 3.607 25.100 0.998 D D 0.832 9.429 0.830 11.088 1.000 0.707 0.725 0.609 0.714 . 5.740 5.740 7.568 1.026 0.549 1.000 1.000 0.998 737 . . . . VIRMA 301 0 270 86 0.241573033707865 TRUE TRUE +ENSG00000155897.10 . BCM GRCh38.p13 chr8 130780658 130780658 + C C - Frame_Shift_Del DEL ENST00000286355.10 exon18 c.3488delG p.G1163Efs*107 exonic ENSG00000155897.10 . frameshift deletion ENSG00000155897.10:ENST00000286355.10:exon18:c.3488delG:p.G1163Efs*107 8q24.22 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADCY8 269 0 312 69 0.181102362204724 TRUE TRUE +ENSG00000165072.10 . BCM GRCh38.p13 chr9 70109738 70109738 + C C G Missense_Mutation SNP ENST00000377182.5 exon4 c.C439G p.L147V exonic ENSG00000165072.10 . nonsynonymous SNV ENSG00000165072.10:ENST00000377182.5:exon4:c.C439G:p.L147V 9q21.12 C3N-01649 . . . . . . . . . 4.20 T T P P D D N T N 0.424 T T T 0.138 0.590 0.247 0.355 T T T T D T 2.713 22.900 0.996 D N 0.160 3.130 0.204 3.200 1.000 0.615 0.590 0.659 0.595 . 5.420 4.520 1.031 -0.258 0.599 0.998 0.909 0.998 988 MAM_domain . . . MAMDC2 151 0 191 44 0.187234042553191 TRUE TRUE +ENSG00000178966.16 . BCM GRCh38.p13 chr9 84001514 84001514 + T T - Frame_Shift_Del DEL ENST00000325875.7 exon3 c.528delT p.G178Vfs*5 exonic ENSG00000178966.16 . frameshift deletion ENSG00000178966.16:ENST00000325875.7:exon3:c.528delT:p.G178Vfs*5 9q21.32 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RMI1 152 0 148 49 0.248730964467005 TRUE TRUE +ENSG00000136854.22 . BCM GRCh38.p13 chr9 127663260 127663260 + C C T Missense_Mutation SNP ENST00000373299.5 exon7 c.C485T p.A162V exonic ENSG00000136854.22 . nonsynonymous SNV ENSG00000136854.22:ENST00000373299.5:exon7:c.C485T:p.A162V 9q34.11 C3N-01649 . . . . . . . . . 9.20 T D B B D D L T N 0.238 T T D 0.347 0.619 0.434 1.645 T D T T D D 2.444 22.300 0.998 D D 0.206 3.330 0.358 4.072 1.000 0.707 0.627 0.725 0.714 . 5.640 5.640 5.993 1.026 0.599 1.000 1.000 1.000 343 . . . . STXBP1 357 0 458 38 0.0766129032258065 TRUE TRUE +ENSG00000216937.13 . BCM GRCh38.p13 chr10 32726769 32726769 + T T C Missense_Mutation SNP ENST00000639629.1 exon26 c.T2605C p.S869P exonic ENSG00000216937.13 . nonsynonymous SNV ENSG00000216937.13:ENST00000639629.1:exon26:c.T2605C:p.S869P 10p11.22 C3N-01649 . . . . . . . . . 0.10 . . . . . N . . . . T T T 0.021 . . . . . T T T T 1.501 15.740 0.987 N N -0.831 0.611 -0.952 0.550 0.000 0.554 0.588 0.574 0.621 . 2.580 1.430 0.154 0.900 0.665 0.000 0.014 0.012 754 . . . . CCDC7 137 0 197 52 0.208835341365462 TRUE TRUE +ENSG00000107551.21 . BCM GRCh38.p13 chr10 44991912 44991920 + AGTACATTA AGTACATTA - In_Frame_Del DEL ENST00000340258.10 exon10 c.815_823del p.Y273_K275del exonic ENSG00000107551.21 . nonframeshift deletion ENSG00000107551.21:ENST00000340258.10:exon10:c.815_823del:p.Y273_K275del 10q11.21 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASSF4 106 0 141 39 0.216666666666667 TRUE TRUE +ENSG00000156113.23 . BCM GRCh38.p13 chr10 77637551 77637551 + G G C Missense_Mutation SNP ENST00000286628.14 exon1 c.C92G p.A31G exonic ENSG00000156113.23 . nonsynonymous SNV ENSG00000156113.23:ENST00000286628.14:exon1:c.C92G:p.A31G 10q22.3 C3N-01649 . . . . . . . . rs201551432 11.19 D T D D . N N D N 0.548 T D D 0.382 0.253 0.620 . D T T T D D 3.373 24.300 0.995 D D 0.016 2.569 0.113 2.790 1.000 0.652 0.749 0.641 0.568 . 3.540 3.540 3.527 1.172 0.664 1.000 1.000 1.000 744 . . . . KCNMA1 113 0 150 60 0.285714285714286 TRUE NA +ENSG00000120008.16 . BCM GRCh38.p13 chr10 120904761 120904761 + G G C Missense_Mutation SNP ENST00000263461.11 exon25 c.G3143C p.S1048T exonic ENSG00000120008.16 . nonsynonymous SNV ENSG00000120008.16:ENST00000263461.11:exon25:c.G3143C:p.S1048T 10q26.12 C3N-01649 . . . . . . . . . 18.20 D D D D D D M D N 0.647 D D D 0.462 0.174 0.831 0.980 D T D D D D 3.885 26.300 0.996 D D 0.786 8.516 0.809 10.410 1.000 0.719 0.723 0.725 0.714 . 5.970 5.970 7.225 1.176 0.676 1.000 1.000 0.998 784 . . . . WDR11 252 0 371 37 0.0906862745098039 TRUE TRUE +ENSG00000171798.18 . BCM GRCh38.p13 chr10 133198478 133198478 + C C T Missense_Mutation SNP ENST00000304613.8 exon13 c.C2048T p.A683V exonic ENSG00000171798.18 . nonsynonymous SNV ENSG00000171798.18:ENST00000304613.8:exon13:c.C2048T:p.A683V 10q26.3 C3N-01649 3.992e-05 0 0 0.0002 0 4.803e-05 0 0 rs750624756 1.19 D T B B N N . T N 0.163 T T T 0.007 0.288 0.076 0.184 T T T T T T 0.633 7.832 0.998 N N -0.913 0.504 -0.992 0.499 0.003 0.696 0.588 0.723 0.563 . 4.010 1.010 0.589 0.065 0.537 0.000 0.001 0.005 994 . . . ID=COSV58832969;OCCURENCE=1(oesophagus) KNDC1 98 0 100 25 0.2 TRUE TRUE +ENSG00000203772.7 . BCM GRCh38.p13 chr10 133423243 133423243 + C C T Missense_Mutation SNP ENST00000414069.2 exon2 c.G439A p.G147R exonic ENSG00000203772.7 . nonsynonymous SNV ENSG00000203772.7:ENST00000414069.2:exon2:c.G439A:p.G147R 10q26.3 C3N-01649 . . . . . . . . . 1.19 T T B B . N N T N 0.088 T T D 0.011 0.259 0.030 . T T T T T T 0.331 4.644 0.885 N N -1.808 0.023 -1.837 0.029 1.000 0.598 0.551 0.608 0.639 . 3.760 -4.640 -0.632 -1.141 -2.200 0.000 0.001 0.001 . . . . . SPRN 50 0 77 6 0.072289156626506 TRUE NA +ENSG00000183389.5 . BCM GRCh38.p13 chr11 6002533 6002533 + G G A Missense_Mutation SNP ENST00000641156.1 exon3 c.C460T p.R154W exonic ENSG00000183389.5 . nonsynonymous SNV ENSG00000183389.5:ENST00000641156.1:exon3:c.C460T:p.R154W 11p15.4 C3N-01649 0.0001 0.0010 8.664e-05 0 0 3e-05 0 0 rs116036052 4.20 D D P B U N H T D 0.670 T T T 0.102 . 0.213 0.182 T T T T T T 1.939 18.790 0.967 N N -0.589 1.007 -0.901 0.619 0.004 0.487 0.574 0.547 0.564 . 3.590 -5.800 -0.151 -0.183 0.676 0.001 0.007 0.669 808 GPCR,_rhodopsin-like,_7TM . . ID=COSV100417630;OCCURENCE=1(large_intestine),1(endometrium) OR56A4 218 1 305 43 0.123563218390805 TRUE NA +ENSG00000150261.4 . BCM GRCh38.p13 chr11 56346535 56346535 + - NA A Frame_Shift_Ins INS ENST00000279783.4 exon1 c.498dupA p.I167Nfs*2 exonic ENSG00000150261.4 . frameshift insertion ENSG00000150261.4:ENST00000279783.4:exon1:c.498dupA:p.I167Nfs*2 11q12.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR8K1 NA NA NA NA NA NA NA +ENSG00000182791.5 . BCM GRCh38.p13 chr11 66591655 66591655 + A A T Nonsense_Mutation SNP ENST00000333861.5 exon1 c.T1361A p.L454X exonic ENSG00000182791.5 . stopgain ENSG00000182791.5:ENST00000333861.5:exon1:c.T1361A:p.L454X 11q13.2 C3N-01649 . . . . . . . . . 3.6 . . . . N D . . . 0.083 . . . . . . . . . D D . . 4.612 32 0.974 N N 0.025 2.603 -0.319 1.525 1.000 0.516 0.547 0.576 0.586 . 5.300 -2.010 -0.170 -0.174 0.756 0.000 0.080 0.870 61 . . . . CCDC87 142 0 187 45 0.193965517241379 TRUE TRUE +ENSG00000173157.17 . BCM GRCh38.p13 chr12 43502354 43502354 + T T G Missense_Mutation SNP ENST00000389420.8 exon4 c.A665C p.N222T exonic ENSG00000173157.17 . nonsynonymous SNV ENSG00000173157.17:ENST00000389420.8:exon4:c.A665C:p.N222T 12q12 C3N-01649 . . . . . . . . . 0.17 T T . . N N L T N 0.152 T T T 0.008 0.329 0.435 0.035 T . T T T T -0.472 0.136 0.314 N N -1.319 0.154 -1.314 0.200 0.000 0.554 0.574 0.618 0.564 . 4.660 -0.795 -0.328 -0.209 -0.109 0.001 0.273 0.557 700 . . . . ADAMTS20 194 0 184 51 0.217021276595745 TRUE TRUE +ENSG00000197757.8 . BCM GRCh38.p13 chr12 54028658 54028658 + A A G Missense_Mutation SNP ENST00000243108.5 exon1 c.A137G p.Q46R exonic ENSG00000197757.8 . nonsynonymous SNV ENSG00000197757.8:ENST00000243108.5:exon1:c.A137G:p.Q46R 12q13.13 C3N-01649 . . . . . . . . . 16.20 D D B B D D M D N 0.774 D D D 0.680 0.561 0.985 1.665 D T D D D D 3.299 24.100 0.995 D D 0.340 3.991 0.457 4.790 1.000 0.677 0.552 0.616 0.601 . 5.540 5.540 8.947 1.312 0.756 1.000 1.000 1.000 243 . . . . HOXC6 296 0 315 89 0.22029702970297 TRUE TRUE +ENSG00000111087.10 . BCM GRCh38.p13 chr12 57471293 57471293 + C C A Nonsense_Mutation SNP ENST00000228682.7 exon12 c.C2553A p.Y851X exonic ENSG00000111087.10 . stopgain ENSG00000111087.10:ENST00000228682.7:exon12:c.C2553A:p.Y851X 12q13.3 C3N-01649 8.829e-06 0 0 0 0 1.548e-05 0 0 rs768421030 3.6 . . . . N D . . . 0.825 . . . . . . . . . D D . . 4.229 28.900 0.982 N N -0.250 1.741 -0.570 1.092 1.000 0.635 0.380 0.644 0.542 . 4.440 -2.920 -0.692 -0.670 -0.249 0.000 0.459 0.751 308 . . . ID=COSV57357582;OCCURENCE=1(large_intestine) GLI1 49 1 74 4 0.0512820512820513 TRUE NA +ENSG00000127311.10 . BCM GRCh38.p13 chr12 66304894 66304894 + T T A Missense_Mutation SNP ENST00000247815.9 exon2 c.T351A p.D117E exonic ENSG00000127311.10 . nonsynonymous SNV ENSG00000127311.10:ENST00000247815.9:exon2:c.T351A:p.D117E 12q14.3 C3N-01649 . . . . . . . . . 5.19 D D P B D N M T N 0.313 T T T 0.090 0.334 0.315 0.468 T T T T D . 0.384 5.254 0.995 N N -0.370 1.450 -0.491 1.217 1.000 0.609 0.628 0.514 0.568 . 5.240 -4.240 -1.056 -0.588 -0.703 0.109 0.949 0.203 819 . . . . HELB 316 0 357 109 0.233905579399142 TRUE TRUE +ENSG00000111530.13 . BCM GRCh38.p13 chr12 67312729 67312729 + T T C Missense_Mutation SNP ENST00000545606.6 exon15 c.T3592C p.F1198L exonic ENSG00000111530.13 . nonsynonymous SNV ENSG00000111530.13:ENST00000545606.6:exon15:c.T3592C:p.F1198L 12q15 C3N-01649 . . . . . . . . . 13.20 T T D D D D L T D 0.743 T T D 0.493 0.650 0.808 0.997 D T D D D D 3.643 25.200 0.997 D D 0.533 5.305 0.603 6.258 1.000 0.707 0.725 0.725 0.714 . 5.710 5.710 7.987 1.138 0.665 1.000 1.000 0.994 923 TATA-binding_protein_interacting_(TIP20) . . . CAND1 149 0 168 48 0.222222222222222 TRUE TRUE +ENSG00000017427.17 . BCM GRCh38.p13 chr12 102419529 102419529 + C C T Missense_Mutation SNP ENST00000307046.8 exon3 c.G382A p.D128N exonic ENSG00000017427.17 . nonsynonymous SNV ENSG00000017427.17:ENST00000307046.8:exon3:c.G382A:p.D128N 12q23.2 C3N-01649 1.659e-05 0 0 0.0001 0 1.503e-05 0 0 rs764732420 15.20 D T D D D D M D N 0.754 D D D 0.480 0.327 0.969 1.854 T D T T D D 3.801 25.800 0.999 D D 0.714 7.316 0.717 8.076 1.000 0.707 0.725 0.574 0.564 . 5.850 5.850 7.497 1.026 0.599 1.000 0.944 0.591 464 . . . ID=COSV61031892;OCCURENCE=1(breast),1(large_intestine),1(ovary),1(kidney) IGF1 109 0 140 16 0.102564102564103 TRUE TRUE +ENSG00000136011.15 . BCM GRCh38.p13 chr12 103662980 103662981 + AA AA - Frame_Shift_Del DEL ENST00000388887.7 exon18 c.2004_2005del p.K669Efs*22 exonic ENSG00000136011.15 . frameshift deletion ENSG00000136011.15:ENST00000388887.7:exon18:c.2004_2005del:p.K669Efs*22 12q23.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAB2 130 0 154 37 0.193717277486911 TRUE TRUE +ENSG00000110851.12 . BCM GRCh38.p13 chr12 107756964 107756964 + T T A Missense_Mutation SNP ENST00000228437.10 exon3 c.A13T p.M5L exonic ENSG00000110851.12 . nonsynonymous SNV ENSG00000110851.12:ENST00000228437.10:exon3:c.A13T:p.M5L 12q23.3 C3N-01649 . . . . . . . . . 11.20 D D B B D D L T D 0.502 T T D 0.276 0.289 0.364 0.466 D T D T D T 3.642 25.200 0.955 D D 0.100 2.888 0.291 3.666 1.000 0.719 0.723 0.702 0.714 . 5.650 5.650 8.017 1.138 0.665 1.000 0.986 0.937 871 . . . . PRDM4 148 1 166 22 0.117021276595745 TRUE TRUE +ENSG00000111331.13 . BCM GRCh38.p13 chr12 112941750 112941750 + T T - Frame_Shift_Del DEL ENST00000228928.12 exon2 c.358delT p.P121Lfs*13 exonic ENSG00000111331.13 . frameshift deletion ENSG00000111331.13:ENST00000228928.12:exon2:c.358delT:p.P121Lfs*13 12q24.13 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OAS3 242 0 261 78 0.230088495575221 TRUE TRUE +ENSG00000060709.15 . BCM GRCh38.p13 chr12 130438457 130438457 + G G A Missense_Mutation SNP ENST00000261655.8 exon9 c.C1513T p.R505W exonic ENSG00000060709.15 . nonsynonymous SNV ENSG00000060709.15:ENST00000261655.8:exon9:c.C1513T:p.R505W 12q24.33 C3N-01649 2.688e-05 0.0001 0 0.0001 0.0002 0 0 0 rs374849427 7.20 T D P B D N N T N 0.426 T T D 0.150 . 0.575 0.295 T T T T D D 4.035 27.200 0.999 D D 0.086 2.830 0.252 3.450 0.963 0.638 0.670 0.578 0.563 . 4.990 4.990 7.660 1.176 0.671 1.000 0.589 0.852 994 Fibronectin_type_III . . ID=COSV99899966;OCCURENCE=1(stomach) RIMBP2 122 0 176 16 0.0833333333333333 TRUE NA +ENSG00000083535.16 . BCM GRCh38.p13 chr13 72854086 72854086 + T T C Missense_Mutation SNP ENST00000326291.11 exon10 c.T1253C p.V418A exonic ENSG00000083535.16 . nonsynonymous SNV ENSG00000083535.16:ENST00000326291.11:exon10:c.T1253C:p.V418A 13q22.1 C3N-01649 . . . . . . . . . 3.20 D T B B N N L T N 0.419 T T T 0.086 0.099 0.219 0.062 T T T T D T 3.063 23.500 0.940 D N -0.464 1.249 -0.390 1.390 0.985 0.732 0.634 0.653 0.728 . 5.040 3.830 5.362 1.138 0.665 0.997 0.580 0.903 941 . . . . PIBF1 177 0 237 21 0.0813953488372093 TRUE TRUE +ENSG00000071537.14 . BCM GRCh38.p13 chr14 81506133 81506133 + C C T Missense_Mutation SNP ENST00000336735.9 exon4 c.G449A p.R150K exonic ENSG00000071537.14 . nonsynonymous SNV ENSG00000071537.14:ENST00000336735.9:exon4:c.G449A:p.R150K 14q31.1 C3N-01649 . . . . . . . . . 11.20 D T D D D D L T N 0.712 T T D 0.354 0.548 0.458 1.261 D T D T D T 3.949 26.600 0.997 D D 0.657 6.558 0.737 8.500 1.000 0.706 0.725 0.710 0.714 . 6.140 6.140 7.561 1.026 0.589 1.000 1.000 0.998 805 Fibronectin_type_II_domain . . . SEL1L 141 0 192 43 0.182978723404255 TRUE TRUE +ENSG00000100711.13 . BCM GRCh38.p13 chr14 103728967 103728967 + C C G Missense_Mutation SNP ENST00000311141.6 exon4 c.C418G p.L140V exonic ENSG00000100711.13 . nonsynonymous SNV ENSG00000100711.13:ENST00000311141.6:exon4:c.C418G:p.L140V 14q32.33 C3N-01649 . . . . . . . . . 14.20 D D D D D D M T N 0.629 D D D 0.436 0.371 0.637 1.164 T T T T D D 3.794 25.800 0.998 D D 0.651 6.486 0.609 6.338 1.000 0.707 0.725 0.723 0.714 . 5.070 5.070 3.370 1.026 0.599 0.987 0.997 0.982 804 Zinc_finger_FYVE_domain-containing_protein_21,_C-terminal . . ID=COSV52454098;OCCURENCE=1(lung) ZFYVE21 162 0 166 61 0.268722466960352 TRUE TRUE +ENSG00000128731.18 . BCM GRCh38.p13 chr15 28256247 28256247 + T T A Missense_Mutation SNP ENST00000261609.13 exon18 c.A2588T p.N863I exonic ENSG00000128731.18 . nonsynonymous SNV ENSG00000128731.18:ENST00000261609.13:exon18:c.A2588T:p.N863I 15q13.1 C3N-01649 . . . . . . . . . 8.19 D . P B D D M T D 0.837 T T T 0.162 0.534 0.474 1.001 T T T T D D 2.308 21.600 0.989 D N 0.105 2.908 0.142 2.912 0.314 0.732 0.725 0.744 0.714 . 5.300 3.000 3.480 1.128 0.650 1.000 1.000 0.997 862 . . . . HERC2 208 0 268 17 0.0596491228070175 TRUE TRUE +ENSG00000166262.16 . BCM GRCh38.p13 chr15 49508235 49508235 + C C A Missense_Mutation SNP ENST00000299338.11 exon11 c.G988T p.D330Y exonic ENSG00000166262.16 . nonsynonymous SNV ENSG00000166262.16:ENST00000299338.11:exon11:c.G988T:p.D330Y 15q21.2 C3N-01649 . . . . . . . . . 2.19 D T B B N N N . D 0.164 T T T 0.114 0.273 0.040 0.045 T T T T T T 0.789 9.286 0.445 N N -1.236 0.202 -1.312 0.201 0.000 0.554 0.588 0.574 0.564 . 3.710 -2.760 0.086 -0.073 -0.313 0.000 0.000 0.003 297 . . . . FAM227B 178 1 192 54 0.219512195121951 TRUE TRUE +ENSG00000166415.15 . BCM GRCh38.p13 chr15 53699800 53699800 + A A T Nonsense_Mutation SNP ENST00000360509.10 exon13 c.T1715A p.L572X exonic ENSG00000166415.15 . stopgain ENSG00000166415.15:ENST00000360509.10:exon13:c.T1715A:p.L572X 15q21.3 C3N-01649 . . . . . . . . . 5.6 . . . . D A . . . 0.273 . . . . . . . . . D D . . 8.163 41 0.994 D N 0.920 11.593 0.808 10.373 1.000 0.487 0.574 0.574 0.564 . 5.490 5.490 8.182 1.312 0.756 1.000 1.000 0.999 922 WD40-repeat-containing_domain . . . WDR72 318 0 351 105 0.230263157894737 TRUE NA +ENSG00000166813.15 . BCM GRCh38.p13 chr15 89633799 89633802 + TCCG TCCG - Frame_Shift_Del DEL ENST00000394412.8 exon12 c.2476_2479del p.R826Tfs*30 exonic ENSG00000166813.15 . frameshift deletion ENSG00000166813.15:ENST00000394412.8:exon12:c.2476_2479del:p.R826Tfs*30 15q26.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF7 354 0 338 80 0.191387559808612 TRUE TRUE +ENSG00000103852.13 . BCM GRCh38.p13 chr15 99138093 99138093 + A A C Missense_Mutation SNP ENST00000394132.7 exon14 c.T1261G p.S421A exonic ENSG00000103852.13 . nonsynonymous SNV ENSG00000103852.13:ENST00000394132.7:exon14:c.T1261G:p.S421A 15q26.3 C3N-01649 . . . . . . . . . 0.20 T T B B U N N T N 0.066 T T T 0.005 0.260 0.067 0.034 T T T T T T -0.145 0.670 0.383 N N -1.638 0.047 -1.709 0.049 1.000 0.706 0.634 0.710 0.636 . 4.940 -8.130 -0.162 -0.314 -0.156 0.000 0.000 0.002 973 . . . . TTC23 172 0 128 43 0.251461988304094 TRUE TRUE +ENSG00000166783.22 . BCM GRCh38.p13 chr16 15633634 15633634 + - NA T Frame_Shift_Ins INS ENST00000396368.8 exon5 c.1215dupA p.E406Rfs*4 exonic ENSG00000166783.22 . frameshift insertion ENSG00000166783.22:ENST00000396368.8:exon5:c.1215dupA:p.E406Rfs*4 16p13.11 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARF1 NA NA NA NA NA NA NA +ENSG00000079616.13 . BCM GRCh38.p13 chr16 29804946 29804946 + C C T Missense_Mutation SNP ENST00000160827.9 exon12 c.C1810T p.L604F exonic ENSG00000079616.13 . nonsynonymous SNV ENSG00000079616.13:ENST00000160827.9:exon12:c.C1810T:p.L604F 16p11.2 C3N-01649 . . . . . . . . . 14.19 D D D D . D M D N 0.497 D D D 0.455 0.278 0.921 0.887 T T D T D T 3.174 23.800 0.998 D D 0.553 5.476 0.441 4.662 1.000 0.628 0.672 0.522 0.562 . 5.640 4.690 3.029 1.026 0.599 0.871 0.952 0.320 289 Helix-hairpin-helix_DNA-binding_motif,_class_1 . . . KIF22 115 0 109 39 0.263513513513513 TRUE TRUE +ENSG00000157423.18 . BCM GRCh38.p13 chr16 71060605 71060605 + T T C Missense_Mutation SNP ENST00000393567.7 exon18 c.A2428G p.N810D exonic ENSG00000157423.18 . nonsynonymous SNV ENSG00000157423.18:ENST00000393567.7:exon18:c.A2428G:p.N810D 16q22.2 C3N-01649 . . . . . . . . . 0.19 T T B B U N N T N 0.043 T T T 0.009 0.406 0.095 . T T T T T . 0.393 5.354 0.548 N N -1.381 0.125 -1.364 0.170 1.000 0.659 0.563 0.725 0.613 . 4.690 -0.673 -0.025 0.141 -0.268 0.000 0.223 0.027 653 . . . . HYDIN 36 0 39 11 0.22 NA TRUE +ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675088 7675088 + C C T Missense_Mutation SNP ENST00000269305.8 exon5 c.G524A p.R175H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.G524A:p.R175H 17p13.1 C3N-01649 8.243e-06 0 0 0 0 1.499e-05 0 0 rs28934578 19.20 D D D D D A M D D 0.938 D D D 0.922 0.986 0.997 1.101 T D D D D D 2.987 23.400 0.999 D D 0.740 7.720 0.711 7.954 1.000 0.722 0.698 0.698 0.735 . 5.410 5.410 6.163 1.026 0.599 1.000 0.996 0.919 434 p53,_DNA-binding_domain . . ID=COSV52661038;OCCURENCE=13(salivary_gland),172(breast),8(penis),1(peritoneum),14(liver),118(oesophagus),6(adrenal_gland),1(meninges),5(cervix),604(large_intestine),116(central_nervous_system),23(biliary_tract),94(ovary),9(vulva),2(pleura),5(bone),6(NS),124(stomach),74(haematopoietic_and_lymphoid_tissue),14(soft_tissue),21(kidney),38(urinary_tract),75(pancreas),10(skin),28(prostate),47(lung),14(thyroid),109(upper_aerodigestive_tract),1(testis),1(eye),3(small_intestine),31(endometrium) TP53 293 0 507 6 0.0116959064327485 TRUE NA +ENSG00000276231.5 . BCM GRCh38.p13 chr17 8822631 8822631 + C C T Missense_Mutation SNP ENST00000619866.5 exon16 c.G1744A p.V582M exonic ENSG00000276231.5 . nonsynonymous SNV ENSG00000276231.5:ENST00000619866.5:exon16:c.G1744A:p.V582M 17p13.1 C3N-01649 4.977e-05 0.0001 0 0 0 7.504e-05 0 0 rs376697464 1.11 . D B B . . . . . 0.080 . . T . . 0.092 . T T T T . T -0.101 0.827 0.638 N N . . . . 0.452 0.257 0.272 0.174 0.063 . 4.200 0.074 -0.878 -1.987 -2.501 0.000 0.001 0.004 900 . . . . PIK3R6 192 1 252 37 0.1280276816609 TRUE NA +ENSG00000133030.21 . BCM GRCh38.p13 chr17 17154325 17154325 + C C G Missense_Mutation SNP ENST00000341712.8 exon13 c.C1385G p.T462S exonic ENSG00000133030.21 . nonsynonymous SNV ENSG00000133030.21:ENST00000341712.8:exon13:c.C1385G:p.T462S 17p11.2 C3N-01649 . . . . . . . . . 13.18 T T P P . D L D D 0.454 D D D 0.723 0.684 0.666 0.316 . D D D D D 2.616 22.700 0.993 D D 0.443 4.618 0.501 5.168 1.000 0.707 0.725 0.702 0.714 . 5.320 5.320 7.758 1.026 0.599 1.000 0.610 0.335 547 Pleckstrin_homology_domain;Myosin_phosphatase-RhoA_interacting_protein,_PH_domain . . . MPRIP 172 0 191 62 0.245059288537549 TRUE TRUE +ENSG00000091536.19 . BCM GRCh38.p13 chr17 18153780 18153780 + C C A Missense_Mutation SNP ENST00000647165.2 exon43 c.C7972A p.P2658T exonic ENSG00000091536.19 . nonsynonymous SNV ENSG00000091536.19:ENST00000647165.2:exon43:c.C7972A:p.P2658T 17p11.2 C3N-01649 . . . . . . . . . 6.19 D D P B . D M D N 0.241 T T D 0.241 0.167 0.556 . T T T T T T 1.065 12.410 0.856 N N -0.502 1.172 -0.608 1.035 1.000 0.437 0.607 0.240 0.555 . 4.820 2.760 0.443 1.026 0.599 0.000 0.015 0.016 169 . . . . MYO15A 293 0 326 117 0.26410835214447 TRUE TRUE +ENSG00000196535.16 . BCM GRCh38.p13 chr17 29166384 29166384 + C C G Missense_Mutation SNP ENST00000527372.6 exon2 c.G557C p.R186P exonic ENSG00000196535.16 . nonsynonymous SNV ENSG00000196535.16:ENST00000527372.6:exon2:c.G557C:p.R186P 17q11.2 C3N-01649 . . . . . . . . . 2.20 D T B B N N N D N 0.326 T T T 0.224 0.235 0.518 1.281 T T T T T T 2.157 20.500 0.988 N N -0.324 1.556 -0.115 2.005 1.000 0.632 0.654 0.780 0.636 . 5.030 5.030 0.889 1.026 0.599 0.172 0.750 0.957 178 . . . . MYO18A 219 0 278 73 0.207977207977208 TRUE TRUE +ENSG00000198265.12 . BCM GRCh38.p13 chr17 67109413 67109413 + G G A Missense_Mutation SNP ENST00000358691.10 exon29 c.C4192T p.P1398S exonic ENSG00000198265.12 . nonsynonymous SNV ENSG00000198265.12:ENST00000358691.10:exon29:c.C4192T:p.P1398S 17q24.2 C3N-01649 . . . . . . . . . 6.20 D T B B N D L D N 0.234 T T D 0.391 0.200 0.351 0.164 T T T T D T 2.034 19.510 0.908 D N 0.066 2.753 0.219 3.279 1.000 0.719 0.725 0.723 0.714 . 5.900 5.900 5.048 1.091 0.578 1.000 0.996 0.970 550 . . . . HELZ 328 0 346 95 0.215419501133787 TRUE TRUE +ENSG00000142405.22 . BCM GRCh38.p13 chr19 53810308 53810308 + G G A Missense_Mutation SNP ENST00000324134.11 exon3 c.C1351T p.R451C exonic ENSG00000142405.22 . nonsynonymous SNV ENSG00000142405.22:ENST00000324134.11:exon3:c.C1351T:p.R451C 19q13.42 C3N-01649 4.978e-05 0 0 0 0 9.077e-05 0 0 rs769847348 3.20 D D P B N N L D N 0.178 T T T 0.401 0.401 0.631 0.180 T T T T T T 0.355 4.925 0.924 N N -1.075 0.329 -1.267 0.231 0.064 0.616 0.574 0.668 0.527 . 4.550 -3.270 -2.298 -1.012 -0.789 0.000 0.000 0.000 994 NACHT_nucleoside_triphosphatase . . ID=COSV60743393;OCCURENCE=3(large_intestine) NLRP12 420 0 601 78 0.114874815905744 TRUE TRUE +ENSG00000130725.8 . BCM GRCh38.p13 chr19 58556360 58556360 + G G C Missense_Mutation SNP ENST00000253023.8 exon5 c.C367G p.L123V exonic ENSG00000130725.8 . nonsynonymous SNV ENSG00000130725.8:ENST00000253023.8:exon5:c.C367G:p.L123V 19q13.43 C3N-01649 . . . . . . . . . 17.20 D D D D D D M T D 0.388 D D D 0.679 0.734 0.805 2.491 T T D D D D 3.962 26.700 0.997 D D 0.849 9.812 0.753 8.866 1.000 0.722 0.672 0.699 0.735 . 4.620 4.620 4.299 1.176 0.676 1.000 1.000 1.000 952 Ubiquitin-conjugating_enzyme_E2 . . . UBE2M 114 0 159 38 0.192893401015228 TRUE TRUE +ENSG00000124126.14 . BCM GRCh38.p13 chr20 48632319 48632319 + G G A Missense_Mutation SNP ENST00000371941.4 exon35 c.C4484T p.A1495V exonic ENSG00000124126.14 . nonsynonymous SNV ENSG00000124126.14:ENST00000371941.4:exon35:c.C4484T:p.A1495V 20q13.13 C3N-01649 8.241e-06 0 0 0 0.0002 0 0 0 rs777253458 2.20 D T B B U N L T N 0.205 T T D 0.043 0.305 0.333 0.344 T T T T T T 1.476 15.580 0.670 N N -0.727 0.767 -0.815 0.736 1.000 0.722 0.702 0.723 0.735 . 4.490 2.530 2.985 -0.539 -1.563 0.203 0.001 0.040 808 . . . ID=COSV100906782;OCCURENCE=1(central_nervous_system) PREX1 332 0 369 104 0.219873150105708 TRUE NA +ENSG00000124098.10 . BCM GRCh38.p13 chr20 56359072 56359072 + A A T Missense_Mutation SNP ENST00000371384.4 exon1 c.A67T p.T23S exonic ENSG00000124098.10 . nonsynonymous SNV ENSG00000124098.10:ENST00000371384.4:exon1:c.A67T:p.T23S 20q13.2 C3N-01649 . . . . . . . . . 1.20 T T B B N N L T N 0.061 T T T 0.036 0.210 0.076 0.527 D T T T T T 0.857 9.978 0.848 N N -1.240 0.200 -1.318 0.198 1.000 0.652 0.607 0.641 0.492 . 3.440 -4.800 -1.243 -1.458 0.552 0.000 0.006 0.950 988 . . . . FAM210B 50 0 88 22 0.2 TRUE TRUE +ENSG00000183421.12 . BCM GRCh38.p13 chr21 41751160 41751160 + T T C Missense_Mutation SNP ENST00000352483.3 exon3 c.A560G p.Y187C exonic ENSG00000183421.12 . nonsynonymous SNV ENSG00000183421.12:ENST00000352483.3:exon3:c.A560G:p.Y187C 21q22.3 C3N-01649 . . . . . . . . . 18.20 D D D D D D M T D 0.975 D D D 0.956 0.870 0.965 1.442 D T D D D D 4.275 29.400 0.998 D D 0.895 10.922 0.759 9.025 1.000 0.696 0.590 0.723 0.542 . 4.590 4.590 7.810 1.134 0.661 1.000 0.988 0.973 909 Protein_kinase_domain . . . RIPK4 154 0 238 16 0.062992125984252 TRUE NA +ENSG00000100219.16 . BCM GRCh38.p13 chr22 28800494 28800494 + - NA CGGCCGA Frame_Shift_Ins INS ENST00000216037.10 exon1 c.30_31insTCGGCCG p.A11Sfs*8 exonic ENSG00000100219.16 . frameshift insertion ENSG00000100219.16:ENST00000216037.10:exon1:c.30_31insTCGGCCG:p.A11Sfs*8 22q12.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XBP1 NA NA NA NA NA NA NA +ENSG00000100285.10 . BCM GRCh38.p13 chr22 29480530 29480530 + G G T Missense_Mutation SNP ENST00000310624.7 exon1 c.G268T p.A90S exonic ENSG00000100285.10 . nonsynonymous SNV ENSG00000100285.10:ENST00000310624.7:exon1:c.G268T:p.A90S 22q12.2 C3N-01649 . . . . . . . . . 4.14 T T . . . N . D N 0.139 T T D 0.146 0.353 0.736 1.001 D . T T T . 2.167 20.600 0.869 D N -0.580 1.024 -0.540 1.138 1.000 0.598 0.610 0.504 0.639 . 3.370 2.250 2.114 1.069 0.494 1.000 0.911 0.555 675 . . . . NEFH 321 0 348 112 0.243478260869565 TRUE TRUE +ENSG00000012174.12 . BCM GRCh38.p13 chrX 21868541 21868541 + T T A Missense_Mutation SNP ENST00000379484.10 exon6 c.T745A p.F249I exonic ENSG00000012174.12 . nonsynonymous SNV ENSG00000012174.12:ENST00000379484.10:exon6:c.T745A:p.F249I Xp22.12 C3N-01649 . . . . . . . . . 12.19 T T B B D D L D N 0.592 D D D 0.447 0.439 0.946 0.956 T D D D D D 2.511 22.400 0.974 D . . . . . 1.000 . . . . . 5.640 4.280 4.496 1.138 0.609 1.000 1.000 0.999 170 Peptidase_M50 . . . MBTPS2 200 1 167 146 0.466453674121406 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53199140 53199140 + G G A Nonsense_Mutation SNP ENST00000375401.8 exon15 c.C2080T p.R694X exonic ENSG00000126012.12 . stopgain ENSG00000126012.12:ENST00000375401.8:exon15:c.C2080T:p.R694X Xp11.22 C3N-01649 . . . . . . . . rs199422236 5.5 . . . . D A . . . 0.949 . . . . . . . . . D D . . 6.367 35 0.997 D . . . . . 0.989 . . . . . 4.690 4.690 0.934 1.176 0.674 0.001 1.000 0.997 86 . . . . KDM5C 173 0 122 126 0.508064516129032 TRUE NA +ENSG00000158423.17 . BCM GRCh38.p13 chrX 53428426 53428426 + G G T Missense_Mutation SNP ENST00000375327.6 exon5 c.G343T p.D115Y exonic ENSG00000158423.17 . nonsynonymous SNV ENSG00000158423.17:ENST00000375327.6:exon5:c.G343T:p.D115Y Xp11.22 C3N-01649 . . . . . . . . . 8.19 D D D D N N M T D 0.563 T T D 0.184 0.900 0.352 0.904 T T T T D T 2.133 20.400 0.989 N . . . . . 0.735 . . . . . 5.180 0.268 0.975 1.164 0.662 0.313 0.961 0.946 2 . . . . RIBC1 115 0 84 69 0.450980392156863 TRUE TRUE +ENSG00000196569.12 . BCM GRCh38.p13 chr6 129460199 129460199 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000196569.12 ENST00000421865.2:exon49:c.6868-1G>A . . 6q22.33 C3N-01649 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.754 34 0.995 D . 1.223 25.964 1.072 24.158 1.000 0.093 0.060 0.112 0.093 0.983 5.480 5.480 9.238 1.172 0.671 1.000 0.998 0.873 767 . . . . LAMA2 257 0 188 95 0.335689045936396 TRUE TRUE +ENSG00000148840.11 . BCM GRCh38.p13 chr10 102138618 102138618 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000148840.11 ENST00000278070.7:exon3:c.343-1G>T . . 10q24.32 C3N-01649 . . . . . . . . . 3.4 . . . . . D . . . . . . . . . . . . . D T . . 5.001 33 0.945 D . 0.880 10.557 0.696 7.677 0.978 0.284 0.279 0.172 0.118 0.511 4.970 4.060 4.155 1.176 0.676 1.000 1.000 0.988 671 . . . . PPRC1 96 0 149 35 0.190217391304348 TRUE TRUE +ENSG00000188157.15 . BCM GRCh38.p13 chr1 1050261 1050261 + C C T Silent SNP ENST00000379370.7 exon28 c.C4908T p.F1636F exonic ENSG00000188157.15 . synonymous SNV ENSG00000188157.15:ENST00000379370.7:exon28:c.C4908T:p.F1636F 1p36.33 C3N-01649 8.361e-06 0 0 0 0 1.526e-05 0 0 rs773269271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101038831;OCCURENCE=1(skin) AGRN 209 0 272 19 0.0652920962199313 TRUE NA +ENSG00000127483.19 . BCM GRCh38.p13 chr1 20744980 20744980 + G G A Silent SNP ENST00000312239.10 exon13 c.C1479T p.P493P exonic ENSG00000127483.19 . synonymous SNV ENSG00000127483.19:ENST00000312239.10:exon13:c.C1479T:p.P493P 1p36.12 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HP1BP3 277 0 344 85 0.198135198135198 TRUE TRUE +ENSG00000168658.19 . BCM GRCh38.p13 chr2 98128346 98128346 + C C T Silent SNP ENST00000477737.6 exon6 c.C810T p.F270F exonic ENSG00000168658.19 . synonymous SNV ENSG00000168658.19:ENST00000477737.6:exon6:c.C810T:p.F270F 2q11.2 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA3B 141 0 191 41 0.176724137931034 TRUE TRUE +ENSG00000138400.13 . BCM GRCh38.p13 chr2 206756918 206756918 + G G A Silent SNP ENST00000374412.8 exon4 c.C393T p.P131P exonic ENSG00000138400.13 . synonymous SNV ENSG00000138400.13:ENST00000374412.8:exon4:c.C393T:p.P131P 2q33.3 C3N-01649 0.0002 0 0 0 0 0 0.0011 0.0011 rs560888236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MDH1B 146 0 182 57 0.238493723849372 TRUE NA +ENSG00000185774.16 . BCM GRCh38.p13 chr4 20732708 20732708 + G G C Silent SNP ENST00000382152.7 exon7 c.C615G p.P205P exonic ENSG00000185774.16 . synonymous SNV ENSG00000185774.16:ENST00000382152.7:exon7:c.C615G:p.P205P 4p15.31 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNIP4 275 0 328 82 0.2 TRUE TRUE +ENSG00000135605.13 . BCM GRCh38.p13 chr4 48145512 48145512 + C C A Silent SNP ENST00000381501.8 exon13 c.G1149T p.V383V exonic ENSG00000135605.13 . synonymous SNV ENSG00000135605.13:ENST00000381501.8:exon13:c.G1149T:p.V383V 4p12 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TEC 206 0 229 64 0.218430034129693 TRUE TRUE +ENSG00000113597.18 . BCM GRCh38.p13 chr5 65660798 65660798 + C C G Silent SNP ENST00000399438.8 exon10 c.C798G p.G266G exonic ENSG00000113597.18 . synonymous SNV ENSG00000113597.18:ENST00000399438.8:exon10:c.C798G:p.G266G 5q12.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAPPC13 161 0 184 33 0.152073732718894 TRUE TRUE +ENSG00000198704.9 . BCM GRCh38.p13 chr6 28515734 28515734 + G G T Unknown SNP NA NA NA NA exonic ENSG00000198704.9 . unknown UNKNOWN 6p22.1 C3N-01649 . . . . . . . . . 1.19 T T B B N N M T N 0.113 T T . 0.042 0.384 0.210 0.129 T T T T T T 0.356 4.930 0.717 N N -0.868 0.561 -0.919 0.594 0.013 0.487 0.563 0.578 0.564 . 3.310 2.420 0.864 0.144 0.676 0.001 0.001 0.007 649 . . . . GPX6 170 0 192 36 0.157894736842105 TRUE TRUE +ENSG00000118508.5 . BCM GRCh38.p13 chr6 146543883 146543883 + A A G Silent SNP ENST00000367495.4 exon1 c.A12G p.G4G exonic ENSG00000118508.5 . synonymous SNV ENSG00000118508.5:ENST00000367495.4:exon1:c.A12G:p.G4G 6q24.3 C3N-01649 0.0260 0 0 0 0.3590 0.0083 0.125 0 rs771526362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62249446;OCCURENCE=1(skin) RAB32 60 1 85 12 0.123711340206186 TRUE TRUE +ENSG00000146648.18 . BCM GRCh38.p13 chr7 55152556 55152556 + C C T Silent SNP ENST00000275493.7 exon6 c.C639T p.I213I exonic ENSG00000146648.18 . synonymous SNV ENSG00000146648.18:ENST00000275493.7:exon6:c.C639T:p.I213I 7p11.2 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99287865;OCCURENCE=1(skin) EGFR 292 0 417 81 0.162650602409639 TRUE TRUE +ENSG00000186472.20 . BCM GRCh38.p13 chr7 82761465 82761465 + C C T Silent SNP ENST00000333891.14 exon23 c.G15036A p.K5012K exonic ENSG00000186472.20 . synonymous SNV ENSG00000186472.20:ENST00000333891.14:exon23:c.G15036A:p.K5012K 7q21.11 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCLO 124 0 227 13 0.0541666666666667 TRUE NA +ENSG00000177409.12 . BCM GRCh38.p13 chr7 93134142 93134142 + G G A Silent SNP ENST00000318238.9 exon5 c.C1830T p.S610S exonic ENSG00000177409.12 . synonymous SNV ENSG00000177409.12:ENST00000318238.9:exon5:c.C1830T:p.S610S 7q21.2 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD9L 212 0 320 61 0.16010498687664 TRUE TRUE +ENSG00000108021.20 . BCM GRCh38.p13 chr10 5742493 5742493 + A A G Silent SNP ENST00000328090.9 exon14 c.A2724G p.E908E exonic ENSG00000108021.20 . synonymous SNV ENSG00000108021.20:ENST00000328090.9:exon14:c.A2724G:p.E908E 10p15.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TASOR2 325 0 392 46 0.105022831050228 TRUE TRUE +ENSG00000198739.11 . BCM GRCh38.p13 chr10 66927645 66927645 + C C G Silent SNP ENST00000361320.5 exon2 c.C729G p.V243V exonic ENSG00000198739.11 . synonymous SNV ENSG00000198739.11:ENST00000361320.5:exon2:c.C729G:p.V243V 10q21.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRTM3 293 0 333 87 0.207142857142857 TRUE TRUE +ENSG00000166444.19 . BCM GRCh38.p13 chr11 8715752 8715752 + G G A Silent SNP ENST00000313726.11 exon6 c.C1696T p.L566L exonic ENSG00000166444.19 . synonymous SNV ENSG00000166444.19:ENST00000313726.11:exon6:c.C1696T:p.L566L 11p15.4 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DENND2B 85 0 98 35 0.263157894736842 TRUE TRUE +ENSG00000181518.4 . BCM GRCh38.p13 chr11 123906998 123906998 + C C T Silent SNP ENST00000641687.1 exon2 c.C567T p.C189C exonic ENSG00000181518.4 . synonymous SNV ENSG00000181518.4:ENST00000641687.1:exon2:c.C567T:p.C189C 11q24.1 C3N-01649 . . . . . . . . rs954420125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR8D4 206 0 258 40 0.134228187919463 TRUE NA +ENSG00000151503.13 . BCM GRCh38.p13 chr11 134177363 134177363 + G G A Silent SNP ENST00000534548.7 exon23 c.C2877T p.N959N exonic ENSG00000151503.13 . synonymous SNV ENSG00000151503.13:ENST00000534548.7:exon23:c.C2877T:p.N959N 11q25 C3N-01649 8.248e-06 0 0 0 0 0 0 6.058e-05 rs763564712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCAPD3 243 0 283 86 0.233062330623306 TRUE NA +ENSG00000135413.9 . BCM GRCh38.p13 chr12 54632344 54632344 + T T A Silent SNP ENST00000257867.5 exon3 c.A150T p.P50P exonic ENSG00000135413.9 . synonymous SNV ENSG00000135413.9:ENST00000257867.5:exon3:c.A150T:p.P50P 12q13.2 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LACRT 156 0 166 44 0.20952380952381 TRUE TRUE +ENSG00000165804.16 . BCM GRCh38.p13 chr14 21091043 21091043 + G G A Silent SNP ENST00000360947.8 exon5 c.C1662T p.S554S exonic ENSG00000165804.16 . synonymous SNV ENSG00000165804.16:ENST00000360947.8:exon5:c.C1662T:p.S554S 14q11.2 C3N-01649 5.402e-05 0 0 0 0 0.0001 0 0 rs776800550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100070195;OCCURENCE=1(stomach) ZNF219 181 0 207 13 0.0590909090909091 TRUE NA +ENSG00000159495.8 . BCM GRCh38.p13 chr15 43282007 43282007 + C C A Silent SNP ENST00000452443.3 exon9 c.G1188T p.V396V exonic ENSG00000159495.8 . synonymous SNV ENSG00000159495.8:ENST00000452443.3:exon9:c.G1188T:p.V396V 15q15.2 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TGM7 260 1 354 30 0.078125 TRUE TRUE +ENSG00000166813.15 . BCM GRCh38.p13 chr15 89630347 89630347 + G G A Silent SNP ENST00000394412.8 exon16 c.C3258T p.A1086A exonic ENSG00000166813.15 . synonymous SNV ENSG00000166813.15:ENST00000394412.8:exon16:c.C3258T:p.A1086A 15q26.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF7 364 0 419 82 0.163672654690619 TRUE TRUE +ENSG00000174448.8 . BCM GRCh38.p13 chr18 54337173 54337173 + T T C Silent SNP ENST00000581310.5 exon6 c.A219G p.T73T exonic ENSG00000174448.8 . synonymous SNV ENSG00000174448.8:ENST00000581310.5:exon6:c.A219G:p.T73T 18q21.2 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STARD6 105 0 153 39 0.203125 TRUE TRUE +ENSG00000074181.9 . BCM GRCh38.p13 chr19 15189122 15189122 + G G A Silent SNP ENST00000263388.7 exon8 c.C1245T p.F415F exonic ENSG00000074181.9 . synonymous SNV ENSG00000074181.9:ENST00000263388.7:exon8:c.C1245T:p.F415F 19p13.12 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOTCH3 333 1 442 45 0.0924024640657084 TRUE TRUE +ENSG00000087589.16 . BCM GRCh38.p13 chr20 56458675 56458675 + G G T Silent SNP ENST00000360314.7 exon7 c.G2289T p.A763A exonic ENSG00000087589.16 . synonymous SNV ENSG00000087589.16:ENST00000360314.7:exon7:c.G2289T:p.A763A 20q13.31 C3N-01649 8.946e-06 0 9.634e-05 0 0 0 0 0 rs772143299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64386784;OCCURENCE=1(lung) CASS4 76 0 105 13 0.110169491525424 TRUE TRUE +ENSG00000196576.15 . BCM GRCh38.p13 chr22 50287763 50287763 + G G A Silent SNP ENST00000359337.9 exon7 c.C1512T p.A504A exonic ENSG00000196576.15 . synonymous SNV ENSG00000196576.15:ENST00000359337.9:exon7:c.C1512T:p.A504A 22q13.33 C3N-01649 2.536e-05 0 0 0 0 0 0 0.0001 rs758353384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLXNB2 100 0 111 43 0.279220779220779 TRUE NA +ENSG00000189401.3 . BCM GRCh38.p13 chrX 70062785 70062785 + G G A Silent SNP ENST00000338352.3 exon1 c.G261A p.R87R exonic ENSG00000189401.3 . synonymous SNV ENSG00000189401.3:ENST00000338352.3:exon1:c.G261A:p.R87R Xq13.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OTUD6A 127 0 190 35 0.155555555555556 TRUE NA +ENSG00000133063.16 . BCM GRCh38.p13 chr1 203216526 203216526 + T T G 3'UTR SNP NA NA NA NA UTR3 ENSG00000133063.16 ENST00000367229.6:c.*363A>C . . 1q32.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHIT1 336 2 348 119 0.254817987152034 TRUE NA +ENSG00000237298.10 . BCM GRCh38.p13 chr2 178746869 178746871 + TTT TTT - RNA DEL NA NA NA NA ncRNA_intronic ENSG00000237298.10 . . . 2q31.2 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN-AS1 467 0 533 129 0.194864048338369 TRUE NA +ENSG00000237298.10 . BCM GRCh38.p13 chr2 178750861 178750861 + T T C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000237298.10 . . . 2q31.2 C3N-01649 . . . . . . . . . 0.16 T T B B . N . T N 0.028 T T T 0.024 0.362 0.048 . . . T T T T -0.106 0.806 0.918 N N -1.472 0.090 -1.477 0.117 0.864 0.487 0.574 0.574 0.530 . 5.400 -2.220 -0.674 -0.236 -0.201 0.000 0.000 0.002 341 . . . . TTN-AS1 346 0 479 58 0.108007448789572 TRUE NA +ENSG00000169313.10 . BCM GRCh38.p13 chr3 151337815 151337815 + G G C 3'UTR SNP NA NA NA NA UTR3 ENSG00000169313.10 ENST00000302632.4:c.*2C>G . . 3q25.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P2RY12 175 0 266 22 0.0763888888888889 TRUE NA +ENSG00000245526.11 . BCM GRCh38.p13 chr5 88666934 88666934 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000245526.11;ENSG00000284447.1 . . . 5q14.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00461 126 0 146 31 0.175141242937853 TRUE NA +ENSG00000146147.15 . BCM GRCh38.p13 chr6 54215141 54215141 + C C A Intron SNP NA NA NA NA intronic ENSG00000146147.15 . . . 6p12.1 C3N-01649 . . . . . . . . . 0.14 T T . . . N . T N 0.182 T T T 0.060 0.231 0.088 . . . T T T T -0.113 0.781 0.481 N N -0.761 0.713 -0.955 0.547 0.000 0.487 0.574 0.547 0.613 . 3.620 -0.910 -0.263 -0.971 -0.869 0.000 0.000 0.000 743 . . . . MLIP 113 0 161 22 0.120218579234973 TRUE NA +ENSG00000224729.6 . BCM GRCh38.p13 chr7 100589697 100589697 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000224729.6 . . . 7q22.1 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCOLCE-AS1 36 0 95 6 0.0594059405940594 TRUE NA +ENSG00000276067.2 . BCM GRCh38.p13 chr7 135363909 135363909 + G G A IGR SNP NA NA NA NA intergenic ENSG00000276067.2;ENSG00000080802.18 dist=74702;dist=23161 . . 7q33 C3N-01649 1.773e-05 0 0.0002 0 0 0 0 0 rs749528170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC009542.2 93 0 147 32 0.17877094972067 TRUE NA +ENSG00000120471.15 . BCM GRCh38.p13 chr11 128935044 128935044 + A A - 3'Flank SNP NA NA NA NA downstream ENSG00000120471.15 dist=326 . . 11q24.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53AIP1 214 0 232 48 0.171428571428571 TRUE TRUE +ENSG00000059122.16 . BCM GRCh38.p13 chr16 2936644 2936644 + G G A Intron SNP NA NA NA NA intronic ENSG00000059122.16 . . . 16p13.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLYWCH1 242 0 215 79 0.268707482993197 TRUE NA +ENSG00000179134.15 . BCM GRCh38.p13 chr19 39383722 39383722 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000179134.15 ENST00000314471.10:c.*195C>T . . 19q13.2 C3N-01649 . . . . . . . . . 3.9 . T . . . D . . . 0.185 . . D . . 0.417 . . T T T . T 1.198 13.620 0.860 D N . . . . 0.779 0.707 0.702 0.786 0.714 . 3.480 1.200 0.909 0.068 0.534 1.000 0.978 0.986 744 . . . . SAMD4B 66 1 71 17 0.193181818181818 TRUE TRUE +ENSG00000126583.11 . BCM GRCh38.p13 chr19 53907025 53907025 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000126583.11 ENST00000263431.4:c.*130C>A . . 19q13.42 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKCG 58 0 78 33 0.297297297297297 TRUE NA +ENSG00000204662.2 . BCM GRCh38.p13 chr20 23547775 23547775 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000204662.2 . . . 20p11.21 C3N-01649 5.88e-05 0 0 0 0 0.0002 0 0 rs756413981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CST9LP1 75 0 129 16 0.110344827586207 TRUE NA +ENSG00000119686.10 . BCM GRCh38.p13 chr14 75605587 75605588 + GC GC AA Unknown MNP NA NA NA NA intronic ENSG00000119686.10 . . . 14q24.3 C3N-01649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLVCR2 170 0 181 43 0.191964285714286 TRUE TRUE +ENSG00000131591.17 . BCM GRCh38.p13 chr1 1086001 1086001 + C C T Missense_Mutation SNP ENST00000379339.5 exon9 c.G430A p.V144M exonic ENSG00000131591.17 . nonsynonymous SNV ENSG00000131591.17:ENST00000379339.5:exon9:c.G430A:p.V144M 1p36.33 C3N-01651 3.348e-05 0.0002 0 0 0 3.057e-05 0 0 rs750931700 13.18 D D D D D D M . D 0.755 T T D 0.395 . 0.055 0.416 . T T D D D 3.012 23.400 0.997 D N 0.174 3.190 0.007 2.383 0.279 0.635 0.644 0.645 0.700 . 4.530 3.570 3.066 0.930 0.529 0.993 0.028 0.008 940 . . . ID=COSV99618764;OCCURENCE=1(endometrium) C1orf159 129 0 118 27 0.186206896551724 TRUE NA +ENSG00000205116.3 . BCM GRCh38.p13 chr1 1427739 1427739 + C C - Frame_Shift_Del DEL ENST00000378821.3 exon2 c.444delC p.P150Rfs*14 exonic ENSG00000205116.3 . frameshift deletion ENSG00000205116.3:ENST00000378821.3:exon2:c.444delC:p.P150Rfs*14 1p36.33 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM88B 50 0 33 5 0.131578947368421 TRUE TRUE +ENSG00000116726.4 . BCM GRCh38.p13 chr1 12774892 12774892 + C C T Missense_Mutation SNP ENST00000357726.4 exon1 c.C25T p.L9F exonic ENSG00000116726.4 . nonsynonymous SNV ENSG00000116726.4:ENST00000357726.4:exon1:c.C25T:p.L9F 1p36.21 C3N-01651 . . . . . . . . . 9.20 D D D D D N H T D 0.352 T T T 0.140 0.565 0.130 0.236 T T T T D D 1.906 18.540 0.997 N N 0.038 2.648 -0.261 1.646 0.001 0.487 0.590 0.547 0.564 . 2.560 2.560 1.127 0.857 0.581 0.062 0.094 0.077 934 . . . . PRAMEF12 68 0 41 9 0.18 TRUE NA +ENSG00000121764.11 . BCM GRCh38.p13 chr1 31623667 31623667 + A A T Nonsense_Mutation SNP ENST00000403528.6 exon6 c.A883T p.K295X exonic ENSG00000121764.11 . stopgain ENSG00000121764.11:ENST00000403528.6:exon6:c.A883T:p.K295X 1p35.2 C3N-01651 . . . . . . . . . 5.6 . . . . D A . . . 0.902 . . . . . . . . . D D . . 8.328 42 0.996 D N 0.840 9.614 0.705 7.852 1.000 0.421 0.514 0.578 0.664 . 4.800 4.800 7.047 1.312 0.691 1.000 1.000 0.995 735 GPCR,_rhodopsin-like,_7TM . . . HCRTR1 256 0 208 35 0.1440329218107 TRUE TRUE +ENSG00000116748.21 . BCM GRCh38.p13 chr1 114680446 114680446 + G G T Missense_Mutation SNP ENST00000520113.6 exon6 c.C679A p.P227T exonic ENSG00000116748.21 . nonsynonymous SNV ENSG00000116748.21:ENST00000520113.6:exon6:c.C679A:p.P227T 1p13.2 C3N-01651 . . . . . . . . . 16.18 D D . . D D M T D 0.865 D D D 0.591 . 0.941 0.476 T D D D D D 3.787 25.800 0.998 D D 1.018 14.482 0.992 18.340 1.000 0.554 0.588 0.574 0.479 . 6.070 6.070 9.848 1.176 0.618 1.000 0.998 0.992 797 . . . ID=COSV62417076;OCCURENCE=1(lung) AMPD1 384 1 291 140 0.324825986078886 TRUE TRUE +ENSG00000143520.6 . BCM GRCh38.p13 chr1 152354451 152354451 + G G A Missense_Mutation SNP ENST00000388718.5 exon3 c.C3335T p.S1112F exonic ENSG00000143520.6 . nonsynonymous SNV ENSG00000143520.6:ENST00000388718.5:exon3:c.C3335T:p.S1112F 1q21.3 C3N-01651 . . . . . . . . . 5.19 D D P B . N M T D 0.272 T T T 0.068 0.215 0.238 0.042 T T T T D T 1.997 19.240 0.997 N N -0.465 1.246 -0.565 1.099 0.000 0.487 0.574 0.574 0.564 . 4.780 2.890 0.445 1.154 0.676 0.003 0.020 0.726 563 . . . . FLG2 305 0 264 39 0.128712871287129 TRUE TRUE +ENSG00000143847.15 . BCM GRCh38.p13 chr1 203068626 203068626 + C C A Missense_Mutation SNP ENST00000447715.6 exon32 c.C3256A p.Q1086K exonic ENSG00000143847.15 . nonsynonymous SNV ENSG00000143847.15:ENST00000447715.6:exon32:c.C3256A:p.Q1086K 1q32.1 C3N-01651 . . . . . . . . . 16.20 T D D D U D M D D 0.786 D D D 0.754 - 0.845 1.342 T T D D D D 3.328 24.200 0.985 D D 0.438 4.585 0.395 4.324 1.000 0.706 0.710 0.659 0.542 . 3.490 3.490 5.953 0.947 0.599 1.000 0.987 0.945 811 Liprin-alpha,_SAM_domain_repeat_3;Sterile_alpha_motif_domain . . . PPFIA4 50 0 40 4 0.0909090909090909 NA TRUE +ENSG00000144028.15 . BCM GRCh38.p13 chr2 96298343 96298343 + G G T Missense_Mutation SNP ENST00000323853.10 exon9 c.C1060A p.P354T exonic ENSG00000144028.15 . nonsynonymous SNV ENSG00000144028.15:ENST00000323853.10:exon9:c.C1060A:p.P354T 2q11.2 C3N-01651 . . . . . . . . . 8.20 T T B B D D L T D 0.240 T T T 0.229 0.159 0.336 1.071 T D T T D D 2.632 22.700 0.988 D D 0.248 3.523 0.436 4.626 1.000 0.707 0.725 0.702 0.714 . 5.770 5.770 9.502 1.176 0.676 1.000 1.000 0.969 291 . . . . SNRNP200 424 2 390 141 0.265536723163842 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178682703 178682703 + T T C Missense_Mutation SNP ENST00000591111.5 exon133 c.A32137G p.I10713V exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon133:c.A32137G:p.I10713V 2q31.2 C3N-01651 . . . . . . . . . 0.17 T . B B . N . T N 0.104 T T T 0.131 0.075 0.242 0.070 T T T T T T -0.023 1.197 0.401 N N -1.488 0.085 -1.540 0.093 0.239 0.554 0.588 0.618 0.564 . 5.340 -7.470 -1.029 -1.090 -0.123 0.000 0.924 0.856 392 . . . . TTN 98 0 77 32 0.293577981651376 TRUE TRUE +ENSG00000115232.14 . BCM GRCh38.p13 chr2 181534312 181534312 + G G C Missense_Mutation SNP ENST00000397033.7 exon26 c.G2825C p.G942A exonic ENSG00000115232.14 . nonsynonymous SNV ENSG00000115232.14:ENST00000397033.7:exon26:c.G2825C:p.G942A 2q31.3 C3N-01651 . . . . . . . . . 0.20 T T B B N N N T N 0.073 T T T 0.109 0.392 0.781 0.124 T T T T T T 0.966 11.190 0.577 N N -0.787 0.674 -0.556 1.113 0.015 0.707 0.725 0.618 0.564 . 5.960 3.850 0.846 0.131 -0.177 0.660 0.963 0.678 787 . . . . ITGA4 134 0 157 33 0.173684210526316 TRUE TRUE +ENSG00000188452.14 . BCM GRCh38.p13 chr2 181558674 181558674 + C C T Missense_Mutation SNP ENST00000339098.9 exon6 c.G790A p.E264K exonic ENSG00000188452.14 . nonsynonymous SNV ENSG00000188452.14:ENST00000339098.9:exon6:c.G790A:p.E264K 2q31.3 C3N-01651 3.323e-05 0 0 0.0002 0 0 0 0.0001 rs532973636 14.20 D D D D D D M T D 0.969 T T D 0.522 0.773 0.821 0.519 T T T D D D 4.528 32 0.999 D D 1.009 14.199 0.946 15.882 1.000 0.554 0.588 0.547 0.564 . 5.840 5.840 7.208 1.026 0.549 1.000 0.929 0.951 815 Diacylglycerol_kinase,_catalytic_domain . . ID=COSV100183708;OCCURENCE=1(large_intestine) CERKL 353 0 502 143 0.221705426356589 TRUE NA +ENSG00000134086.8 . BCM GRCh38.p13 chr3 10142110 10142110 + G G C Missense_Mutation SNP ENST00000256474.3 exon1 c.G263C p.W88S exonic ENSG00000134086.8 . nonsynonymous SNV ENSG00000134086.8:ENST00000256474.3:exon1:c.G263C:p.W88S 3p25.3 C3N-01651 . . . . . . . . rs119103277 19.20 D D D D D A M D D 0.920 D D D 0.945 0.913 0.999 1.383 D D D D D T 4.578 32 0.989 D D 0.773 8.269 0.712 7.992 1.000 0.442 0.522 0.522 0.373 . 5.070 5.070 6.043 1.002 0.522 1.000 0.870 0.743 364 von_Hippel-Lindau_disease_tumour_suppressor,_beta/alpha_domain;von_Hippel-Lindau_disease_tumour_suppressor,__beta_domain . . ID=COSV56566114;OCCURENCE=1(soft_tissue),1(kidney) VHL 402 0 222 77 0.25752508361204 TRUE TRUE +ENSG00000181555.20 . BCM GRCh38.p13 chr3 47088177 47088177 + A A T Nonsense_Mutation SNP ENST00000409792.3 exon10 c.T5213A p.L1738X exonic ENSG00000181555.20 . stopgain ENSG00000181555.20:ENST00000409792.3:exon10:c.T5213A:p.L1738X 3p21.31 C3N-01651 . . . . . . . . . 5.6 . . . . D A . . . 0.912 . . . . . . . . . D D . . 7.788 39 0.990 D N 0.881 10.583 0.737 8.513 1.000 0.732 0.725 0.744 0.728 . 4.460 4.460 8.655 1.312 0.756 1.000 1.000 0.997 14 . . . . SETD2 171 0 112 63 0.36 TRUE TRUE +ENSG00000163939.18 . BCM GRCh38.p13 chr3 52550506 52550506 + A A - Frame_Shift_Del DEL ENST00000296302.11 exon29 c.4812delT p.L1605Ffs*7 exonic ENSG00000163939.18 . frameshift deletion ENSG00000163939.18:ENST00000296302.11:exon29:c.4812delT:p.L1605Ffs*7 3p21.1 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PBRM1 30 0 7 4 0.363636363636364 TRUE NA +ENSG00000080819.9 . BCM GRCh38.p13 chr3 98591042 98591042 + T T C Missense_Mutation SNP ENST00000647941.2 exon2 c.A670G p.S224G exonic ENSG00000080819.9 . nonsynonymous SNV ENSG00000080819.9:ENST00000647941.2:exon2:c.A670G:p.S224G 3q11.2 C3N-01651 . . . . . . . . . 8.20 T T B B N D L D D 0.359 D D D 0.370 0.531 0.896 0.481 T T T T D T 2.235 21.100 0.991 D N -0.175 1.949 -0.025 2.274 1.000 0.707 0.672 0.725 0.714 . 5.300 4.090 3.635 0.200 0.665 1.000 0.996 0.988 486 . . . . CPOX 228 0 239 75 0.238853503184713 TRUE TRUE +ENSG00000137441.8 . BCM GRCh38.p13 chr4 15962868 15962868 + G G A Missense_Mutation SNP ENST00000259989.7 exon1 c.C262T p.P88S exonic ENSG00000137441.8 . nonsynonymous SNV ENSG00000137441.8:ENST00000259989.7:exon1:c.C262T:p.P88S 4p15.32 C3N-01651 . . . . . . . . . 7.20 D D D D U D L T N 0.256 T T T 0.306 0.518 0.326 0.701 T T T T D T 2.464 22.300 0.999 D N 0.108 2.920 -0.031 2.256 1.000 0.487 0.574 0.468 0.542 . 2.980 2.980 6.034 0.797 0.676 1.000 0.112 0.033 940 . . . . FGFBP2 25 0 28 3 0.0967741935483871 TRUE NA +ENSG00000007062.11 . BCM GRCh38.p13 chr4 15985763 15985763 + G G T Missense_Mutation SNP ENST00000510224.5 exon22 c.C2277A p.F759L exonic ENSG00000007062.11 . nonsynonymous SNV ENSG00000007062.11:ENST00000510224.5:exon22:c.C2277A:p.F759L 4p15.32 C3N-01651 . . . . . . . . . 0.20 T T B B N N N T N 0.112 T T T 0.062 0.390 0.377 0.016 T T T T T T 0.444 5.907 0.641 N N -0.748 0.733 -0.868 0.663 0.803 0.707 0.590 0.725 0.542 . 5.310 -1.820 -0.156 0.196 0.596 0.000 0.061 0.587 900 . . . . PROM1 219 0 75 23 0.23469387755102 TRUE TRUE +ENSG00000109805.10 . BCM GRCh38.p13 chr4 17823750 17823750 + G G T Missense_Mutation SNP ENST00000251496.7 exon9 c.G1363T p.D455Y exonic ENSG00000109805.10 . nonsynonymous SNV ENSG00000109805.10:ENST00000251496.7:exon9:c.G1363T:p.D455Y 4p15.31 C3N-01651 . . . . . . . . . 12.20 D D P P D D M T D 0.508 T T D 0.323 0.402 0.689 0.640 T T D D D T 4.438 31 0.995 D D 0.645 6.409 0.656 6.997 1.000 0.745 0.744 0.659 0.762 . 4.810 4.810 8.475 1.176 0.676 1.000 0.974 0.978 535 . . . . NCAPG 160 1 71 4 0.0533333333333333 TRUE TRUE +ENSG00000121892.15 . BCM GRCh38.p13 chr4 39848924 39848924 + T T G Missense_Mutation SNP ENST00000303538.13 exon28 c.A3266C p.K1089T exonic ENSG00000121892.15 . nonsynonymous SNV ENSG00000121892.15:ENST00000303538.13:exon28:c.A3266C:p.K1089T 4p14 C3N-01651 . . . . . . . . . 10.19 T T D D D D L . N 0.631 T T T 0.515 0.431 0.171 2.181 T T D D D D 4.047 27.300 0.998 D D 0.736 7.651 0.719 8.122 1.000 0.732 0.744 0.744 0.714 . 5.470 5.470 7.515 1.138 0.665 1.000 1.000 0.998 381 . . . . PDS5A 243 0 161 23 0.125 TRUE TRUE +ENSG00000080493.17 . BCM GRCh38.p13 chr4 71472704 71472704 + A A T Missense_Mutation SNP ENST00000264485.11 exon14 c.A1637T p.N546I exonic ENSG00000080493.17 . nonsynonymous SNV ENSG00000080493.17:ENST00000264485.11:exon14:c.A1637T:p.N546I 4q13.3 C3N-01651 . . . . . . . . . 15.20 T T D D D D M T D 0.419 D D D 0.622 0.665 0.812 1.447 T D D T D D 3.273 24.000 0.986 D D 0.760 8.049 0.714 8.013 1.000 0.487 0.574 0.574 0.564 . 5.650 5.650 9.325 1.312 0.756 1.000 0.987 0.792 628 Bicarbonate_transporter,_C-terminal . . . SLC4A4 171 0 117 57 0.327586206896552 TRUE TRUE +ENSG00000113430.10 . BCM GRCh38.p13 chr5 1878511 1878511 + C C T Missense_Mutation SNP ENST00000231357.7 exon5 c.G1018A p.A340T exonic ENSG00000113430.10 . nonsynonymous SNV ENSG00000113430.10:ENST00000231357.7:exon5:c.G1018A:p.A340T 5p15.33 C3N-01651 . . . . . . . . . 1.20 T T B B U N N T N 0.036 T T D 0.082 0.211 0.536 0.540 T T T T T T -0.840 0.020 0.901 N N -1.365 0.132 -1.431 0.137 1.000 0.598 0.563 0.607 0.639 . 3.370 -0.792 -1.623 -0.397 -1.262 0.000 0.003 0.025 994 . . . . IRX4 56 0 30 3 0.0909090909090909 TRUE NA +ENSG00000164251.5 . BCM GRCh38.p13 chr5 76833705 76833713 + TGTAAAGCA TGTAAAGCA - In_Frame_Del DEL ENST00000296677.5 exon2 c.1098_1106del p.V367_Q369del exonic ENSG00000164251.5 . nonframeshift deletion ENSG00000164251.5:ENST00000296677.5:exon2:c.1098_1106del:p.V367_Q369del 5q13.3 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F2RL1 278 0 221 55 0.199275362318841 TRUE TRUE +ENSG00000204248.11 . BCM GRCh38.p13 chr6 33192207 33192207 + G G A Missense_Mutation SNP ENST00000374708.8 exon1 c.C34T p.L12F exonic ENSG00000204248.11 . nonsynonymous SNV ENSG00000204248.11:ENST00000374708.8:exon1:c.C34T:p.L12F 6p21.32 C3N-01651 . . . . . . . . . 4.17 T D . . U N L D N 0.417 T D D 0.237 0.385 0.701 1.039 T T T T T . 2.676 22.800 0.997 N N -0.078 2.245 -0.164 1.874 1.000 0.598 0.563 0.504 0.639 . 5.120 1.190 1.815 1.154 0.650 0.858 0.975 0.744 819 . . . . COL11A2 534 0 375 107 0.221991701244813 TRUE TRUE +ENSG00000164674.15 . BCM GRCh38.p13 chr6 158762152 158762152 + T T A Missense_Mutation SNP ENST00000611299.4 exon16 c.T1491A p.D497E exonic ENSG00000164674.15 . nonsynonymous SNV ENSG00000164674.15:ENST00000611299.4:exon16:c.T1491A:p.D497E 6q25.3 C3N-01651 . . . . . . . . . 4.20 T T D P N N M T N 0.218 T T T 0.093 0.374 0.099 0.120 T T T T D T 2.426 22.200 0.988 D N -0.088 2.212 -0.160 1.886 1.000 0.660 0.694 0.537 0.664 . 5.020 -2.430 0.922 0.197 0.665 1.000 0.985 0.994 751 C2_domain . . . SYTL3 118 0 101 43 0.298611111111111 TRUE TRUE +ENSG00000179603.18 . BCM GRCh38.p13 chr7 126533815 126533815 + C C T Missense_Mutation SNP ENST00000339582.7 exon9 c.G1567A p.G523R exonic ENSG00000179603.18 . nonsynonymous SNV ENSG00000179603.18:ENST00000339582.7:exon9:c.G1567A:p.G523R 7q31.33 C3N-01651 . . . . . . . . . 20.20 D D D D D D H D D 0.960 D D D 0.978 0.885 0.835 0.847 D D D D D D 3.938 26.600 0.999 D D 1.020 14.568 0.927 14.975 1.000 0.554 0.588 0.602 0.564 . 5.800 5.800 7.898 1.018 0.589 1.000 0.697 0.541 831 GPCR,_family_3,_nine_cysteines_domain . . . GRM8 186 0 167 77 0.315573770491803 TRUE TRUE +ENSG00000127399.15 . BCM GRCh38.p13 chr7 150337093 150337093 + G G A Missense_Mutation SNP ENST00000359623.9 exon3 c.G232A p.A78T exonic ENSG00000127399.15 . nonsynonymous SNV ENSG00000127399.15:ENST00000359623.9:exon3:c.G232A:p.A78T 7q36.1 C3N-01651 . . . . . . . . . 1.20 T T B B N N N T N 0.057 T T T 0.008 0.242 0.081 0.188 T T T T T D -0.176 0.574 0.783 N N -1.342 0.143 -1.292 0.214 0.732 0.646 0.702 0.696 0.580 . 5.080 -0.070 -0.101 0.227 -0.114 0.001 0.298 0.119 940 . . . . LRRC61 311 0 302 50 0.142045454545455 TRUE TRUE +ENSG00000133874.2 . BCM GRCh38.p13 chr8 33548808 33548808 + G G C Missense_Mutation SNP ENST00000256257.2 exon6 c.C413G p.A138G exonic ENSG00000133874.2 . nonsynonymous SNV ENSG00000133874.2:ENST00000256257.2:exon6:c.C413G:p.A138G 8p12 C3N-01651 . . . . . . . . . 4.20 T T B B N D N T N 0.281 T T T 0.080 0.309 0.765 0.406 T T T T D T 2.593 22.600 0.989 D D -0.189 1.908 -0.070 2.133 1.000 0.719 0.702 0.723 0.711 . 5.610 5.610 8.631 1.176 0.676 0.999 0.291 0.846 848 . . . . RNF122 172 0 128 42 0.247058823529412 TRUE TRUE +ENSG00000156675.16 . BCM GRCh38.p13 chr8 37899402 37899402 + C C T Missense_Mutation SNP ENST00000330843.9 exon1 c.G40A p.V14M exonic ENSG00000156675.16 . nonsynonymous SNV ENSG00000156675.16:ENST00000330843.9:exon1:c.G40A:p.V14M 8p11.23 C3N-01651 . . . . . . . . . 3.20 T T P B N D N T N 0.150 T T D 0.035 0.376 0.340 1.388 T T T T T T 1.807 17.780 0.958 D N -0.712 0.792 -0.583 1.072 1.000 0.442 0.522 0.520 0.562 . 4.850 -0.827 0.392 -0.730 -0.235 0.998 0.979 0.990 784 . . . . RAB11FIP1 104 0 65 4 0.0579710144927536 NA TRUE +ENSG00000179142.2 . BCM GRCh38.p13 chr8 142915202 142915202 + C C G Missense_Mutation SNP ENST00000323110.2 exon3 c.G439C p.D147H exonic ENSG00000179142.2 . nonsynonymous SNV ENSG00000179142.2:ENST00000323110.2:exon3:c.G439C:p.D147H 8q24.3 C3N-01651 . . . . . . . . . 1.20 T T B B N N L T N 0.267 T T D 0.076 0.468 0.573 0.277 T T T T T T 0.938 10.850 0.823 N N -1.055 0.348 -1.112 0.364 0.001 0.497 0.590 0.547 0.613 . 3.440 0.335 1.306 -0.383 -0.249 0.395 0.003 0.307 983 . . . . CYP11B2 604 0 505 70 0.121739130434783 NA TRUE +ENSG00000136874.11 . BCM GRCh38.p13 chr9 99915282 99915282 + C C G Missense_Mutation SNP ENST00000259400.11 exon2 c.C43G p.P15A exonic ENSG00000136874.11 . nonsynonymous SNV ENSG00000136874.11:ENST00000259400.11:exon2:c.C43G:p.P15A 9q31.1 C3N-01651 . . . . . . . . . 6.19 T T B B D D L . D 0.595 T T T 0.104 0.427 0.324 0.126 T T D T D T 1.817 17.860 0.915 D N 0.101 2.890 0.253 3.454 1.000 0.706 0.710 0.659 0.613 . 5.320 5.320 3.740 1.026 0.599 1.000 1.000 0.999 725 . . . . STX17 144 0 89 25 0.219298245614035 TRUE TRUE +ENSG00000119397.16 . BCM GRCh38.p13 chr9 121167525 121167525 + C C T Missense_Mutation SNP ENST00000373855.5 exon37 c.C5692T p.L1898F exonic ENSG00000119397.16 . nonsynonymous SNV ENSG00000119397.16:ENST00000373855.5:exon37:c.C5692T:p.L1898F 9q33.2 C3N-01651 . . . . . . . . . 7.19 T D D P . D M T N 0.372 T T T 0.143 0.224 0.426 0.268 T T T T D D 2.975 23.400 0.998 D N 0.169 3.170 0.095 2.713 1.000 0.706 0.702 0.710 0.636 . 6.070 5.160 2.446 0.110 -0.217 1.000 0.007 0.003 885 . . . . CNTRL 74 0 87 20 0.186915887850467 TRUE TRUE +ENSG00000119487.17 . BCM GRCh38.p13 chr9 125657726 125657726 + T T C Missense_Mutation SNP ENST00000265960.8 exon4 c.A423G p.I141M exonic ENSG00000119487.17 . nonsynonymous SNV ENSG00000119487.17:ENST00000265960.8:exon4:c.A423G:p.I141M 9q33.3 C3N-01651 2.473e-05 0 0 0 0 4.498e-05 0 0 rs755685789 4.19 D D P B N D N . N 0.169 T T T 0.061 0.415 0.338 0.780 T T T T T D 1.556 16.090 0.848 N N -0.484 1.209 -0.436 1.309 1.000 0.707 0.725 0.658 0.714 . 5.920 0.491 -0.643 1.134 0.661 0.094 1.000 0.999 98 Sin1,_middle_CRIM_domain . . . MAPKAP1 177 0 170 12 0.0659340659340659 TRUE NA +ENSG00000187796.15 . BCM GRCh38.p13 chr9 136370965 136370965 + C C T Missense_Mutation SNP ENST00000371732.10 exon4 c.G503A p.C168Y exonic ENSG00000187796.15 . nonsynonymous SNV ENSG00000187796.15:ENST00000371732.10:exon4:c.G503A:p.C168Y 9q34.3 C3N-01651 . . . . . . . . . 3.20 T T D P N N L T N 0.455 T T T 0.134 0.162 0.274 0.240 T T T T T T 1.597 16.350 0.967 D D -0.156 2.003 -0.205 1.775 1.000 0.563 0.654 0.578 0.563 . 4.190 3.280 1.452 -0.774 -0.175 0.001 0.013 0.092 906 . . . . CARD9 216 0 162 93 0.364705882352941 TRUE TRUE +ENSG00000122378.14 . BCM GRCh38.p13 chr10 80425983 80425983 + G G A Missense_Mutation SNP ENST00000606162.6 exon4 c.G388A p.G130R exonic ENSG00000122378.14 . nonsynonymous SNV ENSG00000122378.14:ENST00000606162.6:exon4:c.G388A:p.G130R 10q23.1 C3N-01651 . . . . . . . . . 14.19 D D D D D D . T D 0.916 T T D 0.620 0.622 0.726 0.975 T D D D D T 4.341 29.900 0.999 D D 0.939 12.103 0.885 13.112 1.000 0.732 0.744 0.725 0.714 . 5.380 5.380 9.802 1.071 0.662 1.000 1.000 0.998 934 . . . ID=COSV100939814;OCCURENCE=1(lung) PRXL2A 107 0 77 44 0.363636363636364 TRUE TRUE +ENSG00000171862.11 . BCM GRCh38.p13 chr10 87933033 87933033 + G G T Missense_Mutation SNP ENST00000371953.8 exon5 c.G274T p.D92Y exonic ENSG00000171862.11 . nonsynonymous SNV ENSG00000171862.11:ENST00000371953.8:exon5:c.G274T:p.D92Y 10q23.31 C3N-01651 . . . . . . . . . 20.20 D D D D D D H D D 0.963 D D D 0.960 0.887 0.995 2.584 D D D D D D 4.422 31 0.996 D D 1.049 15.536 0.939 15.518 1.000 0.732 0.725 0.710 0.728 . 5.070 5.070 9.520 1.176 0.676 1.000 1.000 1.000 940 Protein-tyrosine_phosphatase,_catalytic;Tensin-type_phosphatase_domain . . ID=COSV64295080;OCCURENCE=2(breast),1(prostate),1(upper_aerodigestive_tract),5(endometrium) PTEN 391 0 218 113 0.341389728096677 TRUE TRUE +ENSG00000172987.13 . BCM GRCh38.p13 chr10 98721774 98721774 + C C A Missense_Mutation SNP ENST00000370552.8 exon5 c.G839T p.G280V exonic ENSG00000172987.13 . nonsynonymous SNV ENSG00000172987.13:ENST00000370552.8:exon5:c.G839T:p.G280V 10q24.2 C3N-01651 8.255e-06 9.612e-05 0 0 0 0 0 0 rs774034388 11.20 D D P P D D M T D 0.821 T T D 0.269 0.869 0.386 0.672 T T T T D D 3.540 24.800 0.997 D D 0.426 4.506 0.495 5.111 0.460 0.487 0.574 0.574 0.564 . 5.440 5.440 4.431 1.026 0.589 1.000 1.000 0.998 250 . . . . HPSE2 439 0 257 148 0.365432098765432 TRUE NA +ENSG00000066382.16 . BCM GRCh38.p13 chr11 30495418 30495418 + G G T Missense_Mutation SNP ENST00000358117.9 exon3 c.C414A p.F138L exonic ENSG00000066382.16 . nonsynonymous SNV ENSG00000066382.16:ENST00000358117.9:exon3:c.C414A:p.F138L 11p14.1 C3N-01651 . . . . . . . . . 13.20 T T D D D D L D N 0.838 T T D 0.568 0.466 0.243 1.101 D T D D D D 2.402 22.100 0.996 D D 0.066 2.752 0.114 2.793 0.037 0.638 0.574 0.653 0.564 . 5.700 2.530 2.028 -0.127 -0.123 1.000 0.998 0.998 712 Calcineurin-like_phosphoesterase_domain,_ApaH_type . . . MPPED2 331 0 319 40 0.11142061281337 TRUE TRUE +ENSG00000151348.15 . BCM GRCh38.p13 chr11 44206878 44206878 + T T A Missense_Mutation SNP ENST00000533608.7 exon10 c.T1581A p.D527E exonic ENSG00000151348.15 . nonsynonymous SNV ENSG00000151348.15:ENST00000533608.7:exon10:c.T1581A:p.D527E 11p11.2 C3N-01651 . . . . . . . . . 3.20 T T B B D D L T N 0.380 T T T 0.200 0.435 0.702 0.207 T T T T T D 0.387 5.276 0.781 N N -1.258 0.189 -1.290 0.216 0.992 0.732 0.744 0.710 0.613 . 5.910 -3.760 -0.476 -0.147 -0.120 0.208 0.968 0.703 625 Exostosin_,_C-terminal . . . EXT2 242 0 212 84 0.283783783783784 TRUE TRUE +ENSG00000167257.11 . BCM GRCh38.p13 chr11 117282143 117282143 + G G A Missense_Mutation SNP ENST00000300650.9 exon11 c.G1585A p.A529T exonic ENSG00000167257.11 . nonsynonymous SNV ENSG00000167257.11:ENST00000300650.9:exon11:c.G1585A:p.A529T 11q23.3 C3N-01651 8.297e-06 0 0 0.0001 0 0 0 0 rs774814849 2.20 T T B B N D N T N 0.281 T T T 0.036 0.155 0.110 1.255 T T T T T T 2.325 21.700 0.994 D N -0.182 1.926 -0.052 2.191 0.996 0.719 0.654 0.723 0.662 . 5.390 2.250 2.263 1.176 0.676 0.994 0.997 0.996 651 . . . ID=COSV56118278;OCCURENCE=1(stomach),1(prostate) RNF214 101 0 99 19 0.161016949152542 TRUE TRUE +ENSG00000111731.12 . BCM GRCh38.p13 chr12 22472041 22472041 + T T C Missense_Mutation SNP ENST00000333957.8 exon19 c.A2194G p.R732G exonic ENSG00000111731.12 . nonsynonymous SNV ENSG00000111731.12:ENST00000333957.8:exon19:c.A2194G:p.R732G 12p12.1 C3N-01651 . . . . . . . . . 15.20 D D D D D D M T D 0.918 T T D 0.570 0.575 0.765 1.159 T T D D D D 3.805 25.900 0.998 D D 0.440 4.602 0.424 4.530 0.013 0.732 0.744 0.710 0.728 . 5.420 4.370 2.841 0.158 0.587 1.000 1.000 0.998 830 . . . . C2CD5 168 0 62 28 0.311111111111111 TRUE TRUE +ENSG00000111077.18 . BCM GRCh38.p13 chr12 53060184 53060184 + T T C Missense_Mutation SNP ENST00000314250.11 exon18 c.T2543C p.I848T exonic ENSG00000111077.18 . nonsynonymous SNV ENSG00000111077.18:ENST00000314250.11:exon18:c.T2543C:p.I848T 12q13.13 C3N-01651 . . . . . . . . . 5.19 D T B B N D . D N 0.504 T D D 0.224 0.280 0.156 0.417 T T T T T T 1.866 18.230 0.762 N N -0.526 1.126 -0.344 1.476 0.978 0.672 0.514 0.696 0.711 . 5.280 2.870 0.733 1.120 0.644 0.004 0.999 0.995 761 . . . . TNS2 47 0 48 3 0.0588235294117647 TRUE NA +ENSG00000135655.16 . BCM GRCh38.p13 chr12 62260422 62260422 + A A T Missense_Mutation SNP ENST00000280377.10 exon1 c.A8T p.E3V exonic ENSG00000135655.16 . nonsynonymous SNV ENSG00000135655.16:ENST00000280377.10:exon1:c.A8T:p.E3V 12q14.1 C3N-01651 . . . . . . . . . 13.20 D D D D D D M T D 0.585 T T D 0.136 0.316 0.570 1.285 T T T T D D 4.260 29.200 0.990 D D 0.485 4.921 0.449 4.728 1.000 0.267 0.484 0.240 0.250 . 4.980 3.820 6.300 1.312 0.682 1.000 1.000 0.991 847 . . . . USP15 165 0 113 26 0.18705035971223 TRUE TRUE +ENSG00000183495.14 . BCM GRCh38.p13 chr12 132044202 132044202 + C C T Missense_Mutation SNP ENST00000389561.7 exon35 c.C6476T p.A2159V exonic ENSG00000183495.14 . nonsynonymous SNV ENSG00000183495.14:ENST00000389561.7:exon35:c.C6476T:p.A2159V 12q24.33 C3N-01651 8.276e-06 0 0 0 0 0 0.0011 0 rs755946961 1.18 T T B B N N . D N 0.073 T T T 0.192 . 0.386 0.446 T . T T T T -0.073 0.944 0.497 N N -1.386 0.123 -1.408 0.147 0.786 0.707 0.702 0.696 0.714 . 5.600 -4.090 -0.220 0.251 -0.136 0.000 0.057 0.003 964 . . . . EP400 106 0 98 43 0.304964539007092 TRUE NA +ENSG00000182545.6 . BCM GRCh38.p13 chr14 20510815 20510815 + C C T Missense_Mutation SNP ENST00000328444.5 exon1 c.C344T p.T115I exonic ENSG00000182545.6 . nonsynonymous SNV ENSG00000182545.6:ENST00000328444.5:exon1:c.C344T:p.T115I 14q11.2 C3N-01651 . . . . . . . . . 1.20 D T B B N N L T N 0.055 T T T 0.125 0.574 0.268 0.010 T T T T T T -0.865 0.017 0.951 N N -1.153 0.262 -1.256 0.239 0.972 0.549 0.563 0.547 0.616 . 4.820 -5.270 -1.790 -0.418 0.599 0.000 0.002 0.303 958 Ribonuclease_A-domain . . . RNASE10 249 1 190 59 0.236947791164659 TRUE TRUE +ENSG00000169327.5 . BCM GRCh38.p13 chr14 21154937 21154937 + T T G Nonstop_Mutation SNP ENST00000641822.1 exon1 c.A1089C p.X363C exonic ENSG00000169327.5 . stoploss ENSG00000169327.5:ENST00000641822.1:exon1:c.A1089C:p.X363C 14q11.2 C3N-01651 . . . . . . . . . 0.4 . . . . . N . . . . . . . . . . . . . T T . . 0.993 11.530 0.729 N . 0.396 4.319 0.062 2.586 0.002 0.061 0.060 0.063 0.059 0.072 3.610 2.480 0.794 0.086 0.488 0.001 0.139 0.732 926 . . . . OR5AU1 53 0 64 21 0.247058823529412 TRUE TRUE +ENSG00000139915.21 . BCM GRCh38.p13 chr14 47061564 47061564 + G G C Missense_Mutation SNP ENST00000399232.8 exon7 c.C1210G p.R404G exonic ENSG00000139915.21 . nonsynonymous SNV ENSG00000139915.21:ENST00000399232.8:exon7:c.C1210G:p.R404G 14q21.3 C3N-01651 . . . . . . . . . 11.20 D T D P U D L T N 0.731 T T D 0.426 0.524 0.764 0.814 D T D D D D 3.380 24.300 0.997 D D 0.435 4.571 0.505 5.205 0.992 0.487 0.574 0.574 0.564 . 6.170 5.270 6.684 1.176 0.676 1.000 1.000 0.994 838 . . . . MDGA2 66 0 76 37 0.327433628318584 TRUE TRUE +ENSG00000211893.4 . BCM GRCh38.p13 chr14 105644096 105644096 + T T - Frame_Shift_Del DEL ENST00000641095.1 exon2 c.303delA p.K101Nfs*31 exonic ENSG00000211893.4 . frameshift deletion ENSG00000211893.4:ENST00000641095.1:exon2:c.303delA:p.K101Nfs*31 14q32.33 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHG2 342 0 263 38 0.12624584717608 TRUE TRUE +ENSG00000140400.17 . BCM GRCh38.p13 chr15 75359367 75359367 + C C A Missense_Mutation SNP ENST00000267978.10 exon17 c.G2007T p.Q669H exonic ENSG00000140400.17 . nonsynonymous SNV ENSG00000140400.17:ENST00000267978.10:exon17:c.G2007T:p.Q669H 15q24.2 C3N-01651 . . . . . . . . . 4.18 T D B B N N . T N 0.390 T T T 0.026 0.396 0.364 . . T T T D D 1.812 17.820 0.869 D N -0.049 2.342 0.001 2.362 0.992 0.732 0.702 0.744 0.711 . 4.550 3.620 0.999 1.026 0.597 1.000 0.992 0.907 518 Glycosyl_hydrolase_family_38,_C-terminal . . . MAN2C1 77 0 36 3 0.0769230769230769 TRUE NA +ENSG00000103534.17 . BCM GRCh38.p13 chr16 19487283 19487283 + T T C Missense_Mutation SNP ENST00000542583.7 exon17 c.T2530C p.S844P exonic ENSG00000103534.17 . nonsynonymous SNV ENSG00000103534.17:ENST00000542583.7:exon17:c.T2530C:p.S844P 16p12.3 C3N-01651 . . . . . . . . . 17.20 D D D D D D M T D 0.878 D D D 0.633 0.542 0.677 0.730 T T D D D D 4.043 27.300 0.999 D D 0.752 7.921 0.718 8.099 1.000 0.487 0.547 0.468 0.564 . 5.720 5.720 5.467 1.138 0.665 1.000 0.913 0.975 575 . . . . TMC5 83 0 69 14 0.168674698795181 TRUE TRUE +ENSG00000176476.9 . BCM GRCh38.p13 chr16 28591693 28591693 + C C A Missense_Mutation SNP ENST00000317058.8 exon10 c.C869A p.P290H exonic ENSG00000176476.9 . nonsynonymous SNV ENSG00000176476.9:ENST00000317058.8:exon10:c.C869A:p.P290H 16p11.2 C3N-01651 . . . . . . . . . 4.20 T T B B D D L T N 0.315 T T T 0.035 0.280 0.043 1.397 T T T T D T 2.212 21.000 0.965 D N -0.141 2.049 0.057 2.563 1.000 0.732 0.744 0.744 0.636 . 4.730 4.730 2.080 0.998 0.594 1.000 0.991 0.366 682 SGF29_tudor-like_domain . . . SGF29 83 0 110 6 0.0517241379310345 NA TRUE +ENSG00000276085.1 . BCM GRCh38.p13 chr17 36196655 36196655 + C C A Missense_Mutation SNP ENST00000619989.1 exon1 c.G19T p.A7S exonic ENSG00000276085.1 . nonsynonymous SNV ENSG00000276085.1:ENST00000619989.1:exon1:c.G19T:p.A7S 17q12 C3N-01651 . . . . . . . . . 1.14 . T B B N N . . . 0.188 T T D 0.034 0.568 0.076 . . T T T T . 0.601 7.520 0.973 N N -0.671 0.862 -0.749 0.830 0.000 0.693 0.659 0.574 0.564 . 2.530 1.480 -0.009 0.830 0.252 0.000 0.120 0.058 883 . . . . CCL3L1 266 0 124 138 0.526717557251908 TRUE TRUE +ENSG00000108298.11 . BCM GRCh38.p13 chr17 39202392 39202392 + G G T Missense_Mutation SNP ENST00000225430.9 exon3 c.G188T p.C63F exonic ENSG00000108298.11 . nonsynonymous SNV ENSG00000108298.11:ENST00000225430.9:exon3:c.G188T:p.C63F 17q12 C3N-01651 . . . . . . . . . 9.19 T T B B D D L . D 0.870 T T T 0.353 0.410 0.708 2.317 D T D D D T 3.266 24.000 0.970 D D 0.145 3.068 0.359 4.078 1.000 0.722 0.686 0.699 0.639 . 5.440 5.440 9.916 1.158 0.671 1.000 0.996 0.976 585 Ribosomal_protein_L19,_eukaryotic;Ribosomal_protein_L19/L19e . . . RPL19 244 0 242 35 0.126353790613718 NA TRUE +ENSG00000108883.13 . BCM GRCh38.p13 chr17 44894494 44894494 + - NA A Frame_Shift_Ins NA ENST00000426333.7 exon2 c.27dupT p.G10Wfs*9 exonic ENSG00000108883.13 . frameshift insertion ENSG00000108883.13:ENST00000426333.7:exon2:c.27dupT:p.G10Wfs*9 17q21.31 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFTUD2 NA NA NA NA NA NA NA +ENSG00000171634.18 . BCM GRCh38.p13 chr17 67904718 67904718 + G G A Missense_Mutation SNP ENST00000321892.8 exon11 c.G3068A p.G1023D exonic ENSG00000171634.18 . nonsynonymous SNV ENSG00000171634.18:ENST00000321892.8:exon11:c.G3068A:p.G1023D 17q24.2 C3N-01651 . . . . . . . . . 19.19 D D D D . D M D D 0.828 D D D 0.691 0.451 0.821 1.229 D D D D D D 4.230 28.900 0.997 D D 0.900 11.044 0.907 14.068 1.000 0.745 0.744 0.725 0.762 . 5.820 5.820 9.962 1.154 0.676 1.000 0.999 0.997 927 . . . . BPTF 89 1 99 37 0.272058823529412 TRUE TRUE +ENSG00000171451.14 . BCM GRCh38.p13 chr18 67512173 67512173 + C C A Missense_Mutation SNP ENST00000310045.8 exon2 c.G2466T p.W822C exonic ENSG00000171451.14 . nonsynonymous SNV ENSG00000171451.14:ENST00000310045.8:exon2:c.G2466T:p.W822C 18q22.1 C3N-01651 5.786e-05 9.684e-05 0 0 0 9.034e-05 0 0 rs144626811 6.14 D D . . U D . T N 0.888 T T D 0.274 . 0.519 0.733 T . T T D . 4.074 27.500 0.990 D . 0.527 5.251 0.534 5.483 1.000 0.651 0.574 0.676 0.684 . 4.990 4.990 5.893 1.026 0.599 1.000 1.000 0.990 899 . . . . DSEL 222 0 193 68 0.260536398467433 TRUE NA +ENSG00000076826.9 . BCM GRCh38.p13 chr19 7617385 7617385 + A A G Missense_Mutation SNP ENST00000160298.8 exon15 c.A3272G p.D1091G exonic ENSG00000076826.9 . nonsynonymous SNV ENSG00000076826.9:ENST00000160298.8:exon15:c.A3272G:p.D1091G 19p13.2 C3N-01651 . . . . . . . . . 13.20 D D D D D D M T D 0.427 T T D 0.212 0.213 0.466 1.286 T T T T D D 4.208 28.700 0.999 D D 0.634 6.291 0.581 5.991 1.000 0.660 0.694 0.723 0.563 . 5.120 5.120 4.306 1.312 0.754 1.000 0.949 0.710 835 . . . . CAMSAP3 185 0 187 40 0.176211453744493 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8950295 8950295 + G G C Missense_Mutation SNP ENST00000397910.8 exon3 c.C26475G p.H8825Q exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.C26475G:p.H8825Q 19p13.2 C3N-01651 8.285e-06 0 0 0 0 1.499e-05 0 0 rs367975513 1.15 D T . . . N . T N 0.033 T T T 0.150 . 0.048 . T . T T T T -0.588 0.077 0.317 N N -1.672 0.041 -1.768 0.039 0.006 0.554 0.574 0.618 0.564 . 1.710 -3.420 -2.272 -2.528 -0.964 0.000 0.000 0.004 917 . . . . MUC16 247 0 278 82 0.227777777777778 TRUE NA +ENSG00000267534.4 . BCM GRCh38.p13 chr19 10224058 10224058 + A A G Missense_Mutation SNP ENST00000646641.1 exon2 c.T848C p.L283P exonic ENSG00000267534.4 . nonsynonymous SNV ENSG00000267534.4:ENST00000646641.1:exon2:c.T848C:p.L283P 19p13.2 C3N-01651 . . . . . . . . . 16.18 . D D D D D M T . 0.797 D D D 0.613 0.657 0.763 1.880 T D D D D D 4.055 27.400 0.999 D D 0.810 8.988 0.735 8.470 1.000 0.672 0.702 0.723 0.586 . 5.490 5.490 4.542 0.324 0.756 0.988 0.008 0.976 702 GPCR,_rhodopsin-like,_7TM . . . S1PR2 136 1 191 13 0.0637254901960784 TRUE TRUE +ENSG00000101346.14 . BCM GRCh38.p13 chr20 32207949 32207949 + C C T Missense_Mutation SNP ENST00000375749.8 exon1 c.C8T p.A3V exonic ENSG00000101346.14 . nonsynonymous SNV ENSG00000101346.14:ENST00000375749.8:exon1:c.C8T:p.A3V 20q11.21 C3N-01651 1.594e-05 0 0 0 0 2.989e-05 0 0 rs766503770 2.20 T T B B N D N T N 0.324 T T D 0.028 0.372 0.068 0.685 T T T T T T 2.471 22.300 0.999 N N -0.406 1.369 -0.267 1.634 1.000 0.442 0.522 0.522 0.562 . 4.250 2.260 1.236 0.933 0.581 0.995 1.000 0.989 359 . . . . POFUT1 185 0 126 58 0.315217391304348 TRUE NA +ENSG00000180205.4 . BCM GRCh38.p13 chr20 45608714 45608714 + G G C Missense_Mutation SNP ENST00000326000.2 exon4 c.C188G p.P63R exonic ENSG00000180205.4 . nonsynonymous SNV ENSG00000180205.4:ENST00000326000.2:exon4:c.C188G:p.P63R 20q13.12 C3N-01651 . . . . . . . . . 2.19 T T D P N N . T D 0.307 T T T 0.057 0.401 0.040 0.734 T T T T T T 0.585 7.364 0.484 N N -0.909 0.509 -1.100 0.375 0.000 0.487 0.574 0.574 0.564 . 3.940 -0.491 -0.207 -0.172 -0.759 0.000 0.000 0.002 934 . . . . WFDC9 111 0 80 24 0.230769230769231 TRUE TRUE +ENSG00000125520.14 . BCM GRCh38.p13 chr20 63742461 63742461 + T T C Missense_Mutation SNP ENST00000266077.5 exon6 c.T806C p.M269T exonic ENSG00000125520.14 . nonsynonymous SNV ENSG00000125520.14:ENST00000266077.5:exon6:c.T806C:p.M269T 20q13.33 C3N-01651 . . . . . . . . . 0.20 T T B B U N L T N 0.035 T T T 0.018 0.108 0.107 0.067 T T T T T T 0.266 3.886 0.763 N N -1.121 0.289 -1.124 0.351 1.000 0.707 0.702 0.723 0.714 . 3.710 0.033 -0.709 0.197 0.609 0.000 0.008 0.607 . . . . . SLC2A4RG 113 0 87 35 0.286885245901639 TRUE TRUE +ENSG00000011201.12 . BCM GRCh38.p13 chrX 8570566 8570566 + C C A Missense_Mutation SNP ENST00000262648.8 exon7 c.G995T p.W332L exonic ENSG00000011201.12 . nonsynonymous SNV ENSG00000011201.12:ENST00000262648.8:exon7:c.G995T:p.W332L Xp22.31 C3N-01651 . . . . . . . . . 13.19 D D D P D D M T D 0.844 T T D 0.392 0.684 0.819 0.392 T T D D D D 3.418 24.500 0.987 D . . . . . 1.000 . . . . . 4.110 4.110 6.243 0.877 0.599 1.000 0.998 0.983 1000 Fibronectin_type_III . . . ANOS1 234 0 147 178 0.547692307692308 TRUE TRUE +ENSG00000126012.12 . BCM GRCh38.p13 chrX 53201570 53201570 + G G A Nonsense_Mutation SNP ENST00000375401.8 exon14 c.C2041T p.R681X exonic ENSG00000126012.12 . stopgain ENSG00000126012.12:ENST00000375401.8:exon14:c.C2041T:p.R681X Xp11.22 C3N-01651 . . . . . . . . . 5.5 . . . . D A . . . 0.914 . . . . . . . . . D D . . 6.174 35 0.998 D . . . . . 1.000 . . . . . 5.430 5.430 3.107 0.221 0.676 1.000 1.000 0.998 85 . . . ID=COSV64762991;OCCURENCE=1(large_intestine),3(kidney),1(urinary_tract),1(lung) KDM5C 174 0 97 132 0.576419213973799 TRUE TRUE +ENSG00000156920.11 . BCM GRCh38.p13 chrX 136347683 136347683 + G G C Missense_Mutation SNP ENST00000394143.6 exon6 c.G3977C p.G1326A exonic ENSG00000156920.11 . nonsynonymous SNV ENSG00000156920.11:ENST00000394143.6:exon6:c.G3977C:p.G1326A Xq26.3 C3N-01651 . . . . . . . . . 1.17 D T P P . N . T N 0.106 T T T 0.030 0.162 0.030 0.044 T T T T T T -0.471 0.136 0.768 N . . . . . 0.998 . . . . . 2.920 -0.015 -0.758 -0.552 -0.637 0.000 0.000 0.003 810 . . . . ADGRG4 68 0 86 5 0.0549450549450549 TRUE TRUE +ENSG00000204252.14 . BCM GRCh38.p13 chr6 33007079 33007079 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000204252.14 ENST00000229829.7:exon4:c.749+1G>T . . 6p21.32 C3N-01651 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 3.977 26.800 0.982 D . 0.800 8.771 0.568 5.842 0.969 0.257 0.272 0.069 0.059 0.853 4.810 3.930 1.030 1.026 0.597 0.457 0.064 0.007 895 . . . . HLA-DOA 55 0 53 3 0.0535714285714286 TRUE NA +ENSG00000162722.9 . BCM GRCh38.p13 chr1 247875919 247875919 + C C T Silent SNP ENST00000366481.4 exon6 c.C891T p.P297P exonic ENSG00000162722.9 . synonymous SNV ENSG00000162722.9:ENST00000366481.4:exon6:c.C891T:p.P297P 1q44 C3N-01651 1.689e-05 0 0 0.0001 0 1.519e-05 0 0 rs745534672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63572003;OCCURENCE=1(large_intestine),1(pancreas),1(endometrium) TRIM58 75 0 42 26 0.382352941176471 TRUE TRUE +ENSG00000189350.12 . BCM GRCh38.p13 chr2 29003557 29003557 + C C A Silent SNP ENST00000379558.4 exon6 c.C705A p.I235I exonic ENSG00000189350.12 . synonymous SNV ENSG00000189350.12:ENST00000379558.4:exon6:c.C705A:p.I235I 2p23.2 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOGARAM2 98 0 56 27 0.325301204819277 TRUE TRUE +ENSG00000115977.19 . BCM GRCh38.p13 chr2 69507485 69507485 + G G A Silent SNP ENST00000409085.9 exon15 c.C2100T p.D700D exonic ENSG00000115977.19 . synonymous SNV ENSG00000115977.19:ENST00000409085.9:exon15:c.C2100T:p.D700D 2p13.3 C3N-01651 0.0007 0.0005 0.0012 0 0 0.0009 0.0013 7.368e-05 rs372426003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68641937;OCCURENCE=1(oesophagus) AAK1 164 0 179 52 0.225108225108225 TRUE TRUE +ENSG00000155657.27 . BCM GRCh38.p13 chr2 178724351 178724351 + G G T Silent SNP ENST00000591111.5 exon70 c.C20073A p.L6691L exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon70:c.C20073A:p.L6691L 2q31.2 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 141 0 202 45 0.182186234817814 TRUE TRUE +ENSG00000156983.16 . BCM GRCh38.p13 chr3 9743168 9743168 + A A T Silent SNP ENST00000457855.1 exon6 c.A2208T p.A736A exonic ENSG00000156983.16 . synonymous SNV ENSG00000156983.16:ENST00000457855.1:exon6:c.A2208T:p.A736A 3p25.3 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRPF1 317 0 133 94 0.414096916299559 TRUE TRUE +ENSG00000172752.14 . BCM GRCh38.p13 chr3 130376313 130376313 + C C T Silent SNP ENST00000265379.10 exon3 c.C144T p.F48F exonic ENSG00000172752.14 . synonymous SNV ENSG00000172752.14:ENST00000265379.10:exon3:c.C144T:p.F48F 3q22.1 C3N-01651 9.21e-05 0 0 0 0 6.059e-05 0 0.0004 rs776749715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55193211;OCCURENCE=1(biliary_tract),1(skin) COL6A5 53 0 69 32 0.316831683168317 TRUE TRUE +ENSG00000253305.2 . BCM GRCh38.p13 chr5 141409961 141409961 + C C T Silent SNP ENST00000520790.1 exon1 c.C1759T p.L587L exonic ENSG00000253305.2 . synonymous SNV ENSG00000253305.2:ENST00000520790.1:exon1:c.C1759T:p.L587L 5q31.3 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGB6 296 0 254 81 0.241791044776119 TRUE TRUE +ENSG00000001561.7 . BCM GRCh38.p13 chr6 46140261 46140261 + A A T Silent SNP ENST00000321037.5 exon2 c.A678T p.L226L exonic ENSG00000001561.7 . synonymous SNV ENSG00000001561.7:ENST00000321037.5:exon2:c.A678T:p.L226L 6p21.1 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENPP4 162 0 143 51 0.262886597938144 TRUE TRUE +ENSG00000132554.20 . BCM GRCh38.p13 chr8 99977932 99977932 + G G A Silent SNP ENST00000360863.11 exon23 c.C3504T p.D1168D exonic ENSG00000132554.20 . synonymous SNV ENSG00000132554.20:ENST00000360863.11:exon23:c.C3504T:p.D1168D 8q22.2 C3N-01651 4.149e-05 0.0001 0 0 0 1.502e-05 0 0.0002 rs372450445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62658857;OCCURENCE=1(liver),1(central_nervous_system),1(endometrium) RGS22 159 0 41 5 0.108695652173913 TRUE TRUE +ENSG00000164796.18 . BCM GRCh38.p13 chr8 112556866 112556866 + G G A Silent SNP ENST00000297405.10 exon25 c.C4131T p.I1377I exonic ENSG00000164796.18 . synonymous SNV ENSG00000164796.18:ENST00000297405.10:exon25:c.C4131T:p.I1377I 8q23.3 C3N-01651 8.287e-06 0 0 0 0 1.505e-05 0 0 rs752937032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSMD3 171 0 187 31 0.142201834862385 TRUE NA +ENSG00000187479.8 . BCM GRCh38.p13 chr11 43926481 43926481 + A A G Silent SNP ENST00000339446.3 exon2 c.A180G p.Q60Q exonic ENSG00000187479.8 . synonymous SNV ENSG00000187479.8:ENST00000339446.3:exon2:c.A180G:p.Q60Q 11p11.2 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C11orf96 107 0 65 23 0.261363636363636 TRUE NA +ENSG00000170454.6 . BCM GRCh38.p13 chr12 52433843 52433843 + C C T Silent SNP ENST00000252245.6 exon1 c.G462A p.K154K exonic ENSG00000170454.6 . synonymous SNV ENSG00000170454.6:ENST00000252245.6:exon1:c.G462A:p.K154K 12q13.13 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52872876;OCCURENCE=1(skin) KRT75 333 0 210 77 0.268292682926829 TRUE TRUE +ENSG00000092148.13 . BCM GRCh38.p13 chr14 31171897 31171897 + A A G Silent SNP ENST00000399332.6 exon8 c.T1296C p.H432H exonic ENSG00000092148.13 . synonymous SNV ENSG00000092148.13:ENST00000399332.6:exon8:c.T1296C:p.H432H 14q12 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HECTD1 171 0 120 27 0.183673469387755 TRUE TRUE +ENSG00000183397.5 . BCM GRCh38.p13 chr19 3543665 3543665 + C C A Silent SNP ENST00000329493.5 exon3 c.C433A p.R145R exonic ENSG00000183397.5 . synonymous SNV ENSG00000183397.5:ENST00000329493.5:exon3:c.C433A:p.R145R 19p13.3 C3N-01651 . . . . . . . . rs754300947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf71 50 0 46 3 0.0612244897959184 TRUE NA +ENSG00000105255.11 . BCM GRCh38.p13 chr19 4323158 4323158 + G G A Silent SNP ENST00000221856.11 exon11 c.G1212A p.T404T exonic ENSG00000105255.11 . synonymous SNV ENSG00000105255.11:ENST00000221856.11:exon11:c.G1212A:p.T404T 19p13.3 C3N-01651 3.346e-05 0 0.0003 0 0 0 0 0 rs776188536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99697042;OCCURENCE=1(large_intestine) FSD1 423 0 324 85 0.207823960880196 TRUE NA +ENSG00000177599.13 . BCM GRCh38.p13 chr19 11806700 11806700 + G G T Silent SNP ENST00000323169.10 exon3 c.G747T p.G249G exonic ENSG00000177599.13 . synonymous SNV ENSG00000177599.13:ENST00000323169.10:exon3:c.G747T:p.G249G 19p13.2 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF491 117 0 105 23 0.1796875 TRUE TRUE +ENSG00000222000.7 . BCM GRCh38.p13 chr2 98333445 98333445 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000222000.7 . . . 2q11.2 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092675.1 150 0 192 70 0.267175572519084 TRUE NA +ENSG00000082126.18 . BCM GRCh38.p13 chr2 201666605 201666605 + T T C Intron SNP NA NA NA NA intronic ENSG00000082126.18 . . . 2q33.1 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MPP4 15 0 8 4 0.333333333333333 TRUE NA +ENSG00000204049.1 . BCM GRCh38.p13 chr10 77867995 77867995 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000204049.1 . . . 10q22.3 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL391421.1 361 0 193 82 0.298181818181818 TRUE NA +ENSG00000151952.16 . BCM GRCh38.p13 chr12 129084718 129084718 + A A G Intron SNP NA NA NA NA intronic ENSG00000151952.16 . . . 12q24.33 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM132D 70 0 92 8 0.08 TRUE TRUE +ENSG00000139597.18 . BCM GRCh38.p13 chr13 32407617 32407617 + C C T Intron SNP NA NA NA NA intronic ENSG00000139597.18 . . . 13q13.1 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . N4BP2L1 224 0 147 81 0.355263157894737 TRUE NA +ENSG00000016490.16 . BCM GRCh38.p13 chr1 86498585 86498586 + GA GA CG Unknown MNP ENST00000394711.2 exon13 c.2127_2128delinsCG p.W709_N710delinsCD exonic ENSG00000016490.16 . nonframeshift substitution ENSG00000016490.16:ENST00000394711.2:exon13:c.2127_2128delinsCG:p.W709_N710delinsCD 1p22.3 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLCA1 136 0 109 16 0.128 NA TRUE +ENSG00000163728.11 . BCM GRCh38.p13 chr3 180608740 180608741 + GA GA TT Unknown MNP ENST00000296015.9 exon11 c.1330_1331delinsTT p.E444L exonic ENSG00000163728.11 . nonframeshift substitution ENSG00000163728.11:ENST00000296015.9:exon11:c.1330_1331delinsTT:p.E444L 3q26.33 C3N-01651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC14 86 14 52 14 0.212121212121212 TRUE TRUE +ENSG00000143341.12 . BCM GRCh38.p13 chr1 186053964 186053965 + AG AG - Frame_Shift_Del DEL ENST00000271588.9 exon44 c.6840_6841del p.E2281Ifs*8 exonic ENSG00000143341.12 . frameshift deletion ENSG00000143341.12:ENST00000271588.9:exon44:c.6840_6841del:p.E2281Ifs*8 1q31.1 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMCN1 396 0 171 82 0.324110671936759 TRUE TRUE +ENSG00000154358.21 . BCM GRCh38.p13 chr1 228371957 228371957 + C C G Missense_Mutation SNP ENST00000422127.5 exon94 c.C21179G p.S7060C exonic ENSG00000154358.21 . nonsynonymous SNV ENSG00000154358.21:ENST00000422127.5:exon94:c.C21179G:p.S7060C 1q42.13 C3N-01808 . . . . . . . . . 3.20 D D B B N N L T N 0.244 T T D 0.115 0.154 0.524 0.314 T T T T T T 1.646 16.670 0.489 N N -0.918 0.498 -0.967 0.530 0.429 0.581 0.574 0.576 0.563 . 4.400 0.154 0.146 1.026 0.599 0.000 0.009 0.016 428 . . . . OBSCN 179 0 163 33 0.168367346938776 TRUE TRUE +ENSG00000163497.3 . BCM GRCh38.p13 chr2 218982041 218982041 + T T C Missense_Mutation SNP ENST00000295727.2 exon3 c.A343G p.S115G exonic ENSG00000163497.3 . nonsynonymous SNV ENSG00000163497.3:ENST00000295727.2:exon3:c.A343G:p.S115G 2q35 C3N-01808 . . . . . . . . . 10.20 D D B B U D L T D 0.200 T T D 0.090 0.326 0.157 . T D T T D D 3.536 24.800 0.994 D D -0.001 2.507 0.077 2.642 1.000 0.598 0.596 0.378 0.639 . 3.470 3.470 6.121 0.998 0.494 1.000 1.000 0.994 612 Ets_domain . . . FEV 351 0 112 99 0.469194312796209 TRUE TRUE +ENSG00000163820.15 . BCM GRCh38.p13 chr3 45958597 45958597 + A A G Missense_Mutation SNP ENST00000296137.7 exon13 c.T3610C p.Y1204H exonic ENSG00000163820.15 . nonsynonymous SNV ENSG00000163820.15:ENST00000296137.7:exon13:c.T3610C:p.Y1204H 3p21.31 C3N-01808 . . . . . . . . . 11.20 D D D D D D N T N 0.691 T T D 0.406 0.539 0.370 0.765 T T T T D D 4.329 29.800 0.999 D D 0.649 6.460 0.693 7.623 1.000 0.672 0.654 0.609 0.711 . 5.740 5.740 8.548 1.312 0.756 1.000 0.999 0.997 408 FYVE_zinc_finger;Zinc_finger,_FYVE-related . . . FYCO1 563 1 165 141 0.46078431372549 TRUE TRUE +ENSG00000164113.11 . BCM GRCh38.p13 chr4 122411346 122411346 + T T G Missense_Mutation SNP ENST00000296513.7 exon9 c.T973G p.Y325D exonic ENSG00000164113.11 . nonsynonymous SNV ENSG00000164113.11:ENST00000296513.7:exon9:c.T973G:p.Y325D 4q27 C3N-01808 . . . . . . . . . 19.20 D D D D D D H D D 0.922 D D D 0.951 0.842 0.970 0.822 T D D D D D 4.141 28.100 0.992 D D 0.841 9.634 0.774 9.408 0.812 0.487 0.574 0.574 0.542 . 5.740 5.740 6.875 1.138 0.609 1.000 0.998 0.945 911 Adenosine_deaminase/editase . . . ADAD1 312 0 141 67 0.322115384615385 TRUE TRUE +ENSG00000164199.18 . BCM GRCh38.p13 chr5 90810911 90810911 + T T A Missense_Mutation SNP ENST00000405460.9 exon74 c.T15651A p.H5217Q exonic ENSG00000164199.18 . nonsynonymous SNV ENSG00000164199.18:ENST00000405460.9:exon74:c.T15651A:p.H5217Q 5q14.3 C3N-01808 . . . . . . . . . 0.19 T T B B N N . T N 0.102 T T T 0.013 0.440 0.151 0.049 T T T T T T 0.835 9.742 0.636 N N -0.977 0.429 -1.042 0.439 0.001 0.732 0.588 0.744 0.564 . 5.070 -2.490 0.478 1.138 0.665 0.378 0.053 0.084 769 . . . . ADGRV1 513 0 286 152 0.34703196347032 TRUE TRUE +ENSG00000204681.11 . BCM GRCh38.p13 chr6 29631431 29631431 + C C G Missense_Mutation SNP ENST00000377034.9 exon3 c.G254C p.G85A exonic ENSG00000204681.11 . nonsynonymous SNV ENSG00000204681.11:ENST00000377034.9:exon3:c.G254C:p.G85A 6p22.1 C3N-01808 . . . . . . . . . 17.20 D D D D D D L D D 0.665 D D D 0.448 0.385 0.943 1.628 T T D D D D 3.896 26.300 0.998 D D 0.537 5.340 0.550 5.651 1.000 0.726 0.608 0.594 0.604 . 4.530 4.530 7.131 0.947 0.599 1.000 1.000 1.000 851 Sushi/SCR/CCP_domain . . . GABBR1 309 0 164 82 0.333333333333333 TRUE TRUE +ENSG00000118515.11 . BCM GRCh38.p13 chr6 134172758 134172758 + T T C Missense_Mutation SNP ENST00000237305.11 exon7 c.A566G p.Q189R exonic ENSG00000118515.11 . nonsynonymous SNV ENSG00000118515.11:ENST00000237305.11:exon7:c.A566G:p.Q189R 6q23.2 C3N-01808 . . . . . . . . . 14.20 D T D D D D L T D 0.813 T T D 0.506 0.589 0.782 1.814 D T D D D D 4.431 31 0.999 D D 0.541 5.373 0.655 6.982 1.000 0.707 0.537 0.725 0.658 . 6.170 6.170 8.017 1.138 0.665 1.000 1.000 0.994 821 Protein_kinase_domain . . . SGK1 228 0 50 55 0.523809523809524 TRUE TRUE +ENSG00000215018.10 . BCM GRCh38.p13 chr7 7419892 7419892 + C C T Missense_Mutation SNP ENST00000399429.8 exon26 c.G2060A p.G687E exonic ENSG00000215018.10 . nonsynonymous SNV ENSG00000215018.10:ENST00000399429.8:exon26:c.G2060A:p.G687E 7p21.3 C3N-01808 8.974e-06 0 0 0 0 1.599e-05 0 0 rs372891867 17.20 D D D D U D H D D 0.879 D D D 0.932 . 0.726 0.251 T T D D D D 3.678 25.300 0.998 D D 0.942 12.196 0.806 10.315 1.000 0.487 0.547 0.574 0.564 . 4.650 4.650 3.799 1.026 0.599 1.000 1.000 0.995 821 . . . . COL28A1 121 0 72 21 0.225806451612903 TRUE NA +ENSG00000215262.8 . BCM GRCh38.p13 chr8 36935649 36935649 + A A G Missense_Mutation SNP ENST00000399881.8 exon27 c.A3179G p.N1060S exonic ENSG00000215262.8 . nonsynonymous SNV ENSG00000215262.8:ENST00000399881.8:exon27:c.A3179G:p.N1060S 8p11.23 C3N-01808 . . . . . . . . . 1.19 D T B B . N L T N 0.130 T T T 0.071 0.249 0.286 0.023 T T T T T T 0.638 7.880 0.910 N N -0.940 0.472 -0.921 0.592 0.000 0.487 0.574 0.547 0.564 . 5.080 3.900 0.792 0.243 -0.040 0.001 0.002 0.001 732 . . . . KCNU1 233 0 105 35 0.25 TRUE TRUE +ENSG00000165124.18 . BCM GRCh38.p13 chr9 110411094 110411094 + T T G Missense_Mutation SNP ENST00000374469.6 exon37 c.A6617C p.E2206A exonic ENSG00000165124.18 . nonsynonymous SNV ENSG00000165124.18:ENST00000374469.6:exon37:c.A6617C:p.E2206A 9q31.3 C3N-01808 . . . . . . . . . 2.17 . D P B N N L . . 0.544 T T T 0.155 0.500 0.043 0.444 T T T T T T 2.174 20.700 0.947 D N -0.047 2.348 0.041 2.503 0.064 0.554 0.590 0.618 0.564 . 5.790 5.790 2.864 1.120 0.585 0.852 0.842 0.153 966 Sushi/SCR/CCP_domain . . . SVEP1 59 0 30 12 0.285714285714286 TRUE TRUE +ENSG00000204010.3 . BCM GRCh38.p13 chr10 89384180 89384180 + C C A Missense_Mutation SNP ENST00000371809.3 exon2 c.C867A p.H289Q exonic ENSG00000204010.3 . nonsynonymous SNV ENSG00000204010.3:ENST00000371809.3:exon2:c.C867A:p.H289Q 10q23.31 C3N-01808 . . . . . . . . . 7.20 D T P B N D M T D 0.329 T T T 0.182 0.593 0.635 0.063 T T T T D D 2.036 19.530 0.975 D N 0.078 2.800 -0.005 2.342 0.804 0.447 0.547 0.547 0.530 . 4.160 2.260 0.517 -0.287 0.530 0.998 0.102 0.962 883 . . . . IFIT1B 214 0 129 61 0.321052631578947 TRUE TRUE +ENSG00000162337.12 . BCM GRCh38.p13 chr11 68348050 68348050 + G G T Missense_Mutation SNP ENST00000294304.12 exon2 c.G295T p.V99L exonic ENSG00000162337.12 . nonsynonymous SNV ENSG00000162337.12:ENST00000294304.12:exon2:c.G295T:p.V99L 11q13.2 C3N-01808 . . . . . . . . . 3.20 T T B B U N L D N 0.240 T T D 0.153 0.523 0.525 0.403 T T T T T T 0.483 6.330 0.919 D N -0.959 0.450 -0.973 0.524 0.999 0.707 0.654 0.644 0.714 . 3.950 2.060 0.545 1.172 0.672 0.006 0.088 0.110 503 . . . . LRP5 229 1 139 57 0.290816326530612 TRUE TRUE +ENSG00000077616.11 . BCM GRCh38.p13 chr11 90163010 90163010 + A A G Missense_Mutation SNP ENST00000534061.6 exon9 c.A1051G p.T351A exonic ENSG00000077616.11 . nonsynonymous SNV ENSG00000077616.11:ENST00000534061.6:exon9:c.A1051G:p.T351A 11q14.3 C3N-01808 8.274e-06 0 0 0 0 0 0 6.078e-05 rs750672339 4.19 T T B B N D M T N 0.547 T T T 0.080 0.336 0.420 0.129 T T T T T . 2.165 20.600 0.990 D D 0.090 2.847 0.233 3.348 0.807 0.615 0.574 0.659 0.621 . 5.370 5.370 5.152 1.280 0.691 0.946 1.000 0.997 915 Peptidase_M28 . . . NAALAD2 150 0 62 27 0.303370786516854 TRUE NA +ENSG00000133641.18 . BCM GRCh38.p13 chr12 88040229 88040229 + G G T Missense_Mutation SNP ENST00000356891.4 exon2 c.G172T p.V58L exonic ENSG00000133641.18 . nonsynonymous SNV ENSG00000133641.18:ENST00000356891.4:exon2:c.G172T:p.V58L 12q21.32 C3N-01808 . . . . . . . . . 7.18 T T D D . D L T N 0.422 T T T 0.164 0.278 0.204 0.770 . T T T D D 2.898 23.200 0.996 D D 0.391 4.289 0.438 4.643 1.000 0.706 0.710 0.659 0.613 . 5.060 5.060 4.076 1.163 0.676 1.000 1.000 0.998 876 . . . . C12orf29 292 0 148 60 0.288461538461538 TRUE TRUE +ENSG00000139697.14 . BCM GRCh38.p13 chr12 123331263 123331263 + A A T Nonsense_Mutation SNP ENST00000602398.3 exon8 c.T1022A p.L341X exonic ENSG00000139697.14 . stopgain ENSG00000139697.14:ENST00000602398.3:exon8:c.T1022A:p.L341X 12q24.31 C3N-01808 . . . . . . . . . 5.6 . . . . D A . . . 0.588 . . . . . . . . . D D . . 7.714 39 0.991 D N 1.030 14.891 0.906 14.009 1.000 0.707 0.725 0.651 0.714 . 5.830 5.830 6.238 1.294 0.751 1.000 1.000 0.993 455 Strawberry_notch,_AAA_domain . . . SBNO1 174 0 75 29 0.278846153846154 TRUE TRUE +ENSG00000150991.15 . BCM GRCh38.p13 chr12 124913626 124913626 + T T - Frame_Shift_Del DEL ENST00000339647.6 exon2 c.146delA p.Q49Rfs*33 exonic ENSG00000150991.15 . frameshift deletion ENSG00000150991.15:ENST00000339647.6:exon2:c.146delA:p.Q49Rfs*33 12q24.31 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBC 454 0 254 108 0.298342541436464 NA TRUE +ENSG00000102699.6 . BCM GRCh38.p13 chr13 24434586 24434586 + G G A Nonsense_Mutation SNP ENST00000381989.4 exon31 c.C4555T p.Q1519X exonic ENSG00000102699.6 . stopgain ENSG00000102699.6:ENST00000381989.4:exon31:c.C4555T:p.Q1519X 13q12.12 C3N-01808 . . . . . . . . . 3.6 . . . . U A . . . 0.029 . . . . . . . . . D D . . 5.948 35 0.943 N N -0.389 1.407 -0.792 0.769 0.000 0.732 0.725 0.744 0.714 . 1.950 0.004 -0.733 -0.094 -0.448 0.000 0.001 0.006 862 . . . . PARP4 123 0 62 18 0.225 TRUE TRUE +ENSG00000165548.11 . BCM GRCh38.p13 chr14 77236718 77236718 + A A T Missense_Mutation SNP ENST00000298351.5 exon9 c.A637T p.R213W exonic ENSG00000165548.11 . nonsynonymous SNV ENSG00000165548.11:ENST00000298351.5:exon9:c.A637T:p.R213W 14q24.3 C3N-01808 . . . . . . . . . 7.20 D D P P N N L T D 0.294 T T D 0.104 0.512 0.043 1.020 T T T T D T 3.426 24.500 0.998 D D 0.089 2.843 0.089 2.689 0.999 0.638 0.610 0.653 0.613 . 4.630 4.630 4.347 1.311 0.752 1.000 0.003 0.002 763 . . . . TMEM63C 267 0 124 68 0.354166666666667 TRUE TRUE +ENSG00000166963.13 . BCM GRCh38.p13 chr15 43527699 43527699 + C C T Missense_Mutation SNP ENST00000300231.6 exon4 c.C6226T p.P2076S exonic ENSG00000166963.13 . nonsynonymous SNV ENSG00000166963.13:ENST00000300231.6:exon4:c.C6226T:p.P2076S 15q15.3 C3N-01808 . . . . . . . . . 1.20 D T B B N N L T N 0.076 T T T 0.060 0.165 0.103 0.196 T T T T T T 0.872 10.140 0.802 N N -0.634 0.927 -0.577 1.081 1.000 0.624 0.547 0.608 0.580 . 4.900 3.020 0.131 1.026 0.599 0.001 0.998 0.994 19 . . . . MAP1A 166 0 101 41 0.288732394366197 TRUE NA +ENSG00000103888.17 . BCM GRCh38.p13 chr15 80929064 80929064 + G G C Missense_Mutation SNP ENST00000394685.8 exon21 c.G2502C p.K834N exonic ENSG00000103888.17 . nonsynonymous SNV ENSG00000103888.17:ENST00000394685.8:exon21:c.G2502C:p.K834N 15q25.1 C3N-01808 . . . . . . . . . 8.20 T T D D D D M T N 0.799 T T T 0.165 0.370 0.576 1.243 T T T T D D 3.219 23.900 0.998 D N 0.492 4.972 0.483 5.009 1.000 0.554 0.588 0.602 0.613 . 4.870 4.870 1.728 1.146 0.676 1.000 1.000 0.997 952 . . . . CEMIP 593 0 332 154 0.316872427983539 TRUE TRUE +ENSG00000166669.13 . BCM GRCh38.p13 chr16 10431083 10431083 + C C G Missense_Mutation SNP ENST00000396560.6 exon3 c.C463G p.L155V exonic ENSG00000166669.13 . nonsynonymous SNV ENSG00000166669.13:ENST00000396560.6:exon3:c.C463G:p.L155V 16p13.13 C3N-01808 . . . . . . . . . 0.20 T T B B N N L T N 0.232 T T T 0.020 0.159 0.068 0.010 T T T T T T -0.042 1.095 0.632 N N -1.024 0.379 -1.005 0.483 0.001 0.563 0.654 0.609 0.636 . 5.290 1.700 0.381 -0.208 -1.007 0.000 0.373 0.105 976 . . . . ATF7IP2 214 0 104 56 0.35 TRUE TRUE +ENSG00000140853.15 . BCM GRCh38.p13 chr16 57030039 57030039 + C C T Missense_Mutation SNP ENST00000262510.10 exon10 c.C2372T p.A791V exonic ENSG00000140853.15 . nonsynonymous SNV ENSG00000140853.15:ENST00000262510.10:exon10:c.C2372T:p.A791V 16q13 C3N-01808 . . . . . . . . . 0.20 T T B B N N N T N 0.171 T T T 0.058 0.571 0.213 0.247 T T T T T T 1.342 14.690 0.926 N N -0.871 0.557 -0.776 0.792 0.999 0.672 0.702 0.602 0.655 . 4.860 1.400 0.123 0.138 0.599 0.772 0.121 0.208 917 . . . . NLRC5 240 0 183 14 0.0710659898477157 TRUE TRUE +ENSG00000270765.6 . BCM GRCh38.p13 chr17 35752601 35752601 + G G A Missense_Mutation SNP ENST00000604641.6 exon1 c.C250T p.P84S exonic ENSG00000270765.6 . nonsynonymous SNV ENSG00000270765.6:ENST00000604641.6:exon1:c.C250T:p.P84S 17q12 C3N-01808 . . . . . . . . . 11.18 . D D D D D M T . 0.554 T T D 0.321 0.502 0.699 . T D T T D T 3.920 26.500 0.999 D D 0.637 6.317 0.501 5.169 1.000 0.609 0.563 0.769 0.639 . 5.460 5.460 7.966 1.176 0.613 1.000 0.687 0.184 455 Calponin_homology_domain . . . GAS2L2 134 0 116 8 0.0645161290322581 TRUE TRUE +ENSG00000108417.4 . BCM GRCh38.p13 chr17 41424066 41424066 + G G A Missense_Mutation SNP ENST00000225550.4 exon1 c.C458T p.S153F exonic ENSG00000108417.4 . nonsynonymous SNV ENSG00000108417.4:ENST00000225550.4:exon1:c.C458T:p.S153F 17q21.2 C3N-01808 . . . . . . . . . 9.19 D D D P N N M D D 0.328 T D D 0.453 0.395 0.895 0.363 T T T T D . 2.363 21.900 0.997 N N 0.198 3.294 0.010 2.395 0.000 0.497 0.555 0.547 0.542 . 4.690 1.530 -0.632 1.175 0.671 0.000 0.997 0.997 207 Intermediate_filament,_rod_domain . . . KRT37 172 0 95 53 0.358108108108108 NA TRUE +ENSG00000142303.14 . BCM GRCh38.p13 chr19 8601036 8601039 + CGAT CGAT - Frame_Shift_Del DEL ENST00000597188.6 exon6 c.699_702del p.V235Afs*15 exonic ENSG00000142303.14 . frameshift deletion ENSG00000142303.14:ENST00000597188.6:exon6:c.699_702del:p.V235Afs*15 19p13.2 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS10 501 0 248 92 0.270588235294118 TRUE TRUE +ENSG00000104979.9 . BCM GRCh38.p13 chr19 13774494 13774494 + G G A Missense_Mutation SNP ENST00000588234.6 exon1 c.G17A p.R6H exonic ENSG00000104979.9 . nonsynonymous SNV ENSG00000104979.9:ENST00000588234.6:exon1:c.G17A:p.R6H 19p13.13 C3N-01808 2.81e-05 0 0 0 0 5.031e-05 0 0 rs750995204 2.16 . T B B N D . T . 0.172 T T T 0.023 0.380 0.371 0.016 . T T T D T 2.150 20.500 0.997 N N -0.293 1.630 -0.188 1.815 1.000 0.442 0.504 0.504 0.562 . 5.040 2.830 0.761 1.171 0.671 0.823 0.803 0.314 958 . . . . C19orf53 158 0 100 48 0.324324324324324 TRUE NA +ENSG00000125775.15 . BCM GRCh38.p13 chr20 1313344 1313344 + T T G Missense_Mutation SNP ENST00000360779.4 exon5 c.A380C p.D127A exonic ENSG00000125775.15 . nonsynonymous SNV ENSG00000125775.15:ENST00000360779.4:exon5:c.A380C:p.D127A 20p13 C3N-01808 . . . . . . . . . 10.20 D D P B D D M T D 0.566 T T D 0.220 0.535 0.454 0.305 T T T T D T 3.442 24.500 0.990 D D 0.364 4.128 0.323 3.855 1.000 0.789 0.611 0.768 0.684 . 5.010 5.010 7.107 0.970 0.580 1.000 0.078 0.022 887 PDZ_domain . . . SDCBP2 178 2 93 31 0.25 TRUE TRUE +ENSG00000205220.12 . BCM GRCh38.p13 chr16 67936486 67936486 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000205220.12 ENST00000358514.9:exon2:c.57-1G>T . . 16q22.1 C3N-01808 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.302 33 0.994 D . 1.043 15.320 0.875 12.715 1.000 0.090 0.098 0.050 0.088 0.991 5.210 4.250 3.814 1.022 0.596 1.000 0.677 0.621 8 . . . . PSMB10 124 0 75 32 0.299065420560748 TRUE TRUE +ENSG00000078900.15 . BCM GRCh38.p13 chr1 3731054 3731054 + C C T Silent SNP ENST00000378295.9 exon12 c.C1473T p.P491P exonic ENSG00000078900.15 . synonymous SNV ENSG00000078900.15:ENST00000378295.9:exon12:c.C1473T:p.P491P 1p36.32 C3N-01808 . . . . . . . . . 2.5 . . . . . D . . . 0.888 . . . . . . . . . T T . . 1.048 12.210 0.998 D N 0.291 3.735 0.366 4.128 1.000 0.672 0.702 0.645 0.613 . 5.130 5.130 3.590 1.022 0.596 1.000 1.000 0.992 817 . . . . TP73 85 0 49 29 0.371794871794872 TRUE TRUE +ENSG00000123091.5 . BCM GRCh38.p13 chr1 51271163 51271163 + T T C Silent SNP ENST00000242719.4 exon3 c.T306C p.C102C exonic ENSG00000123091.5 . synonymous SNV ENSG00000123091.5:ENST00000242719.4:exon3:c.T306C:p.C102C 1p32.3 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF11 99 0 60 26 0.302325581395349 TRUE TRUE +ENSG00000163357.11 . BCM GRCh38.p13 chr1 155041540 155041540 + C C T Silent SNP ENST00000295542.6 exon7 c.C675T p.R225R exonic ENSG00000163357.11 . synonymous SNV ENSG00000163357.11:ENST00000295542.6:exon7:c.C675T:p.R225R 1q21.3 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCST1 375 0 227 101 0.307926829268293 TRUE TRUE +ENSG00000152977.10 . BCM GRCh38.p13 chr3 147410529 147410529 + C C T Silent SNP ENST00000282928.5 exon1 c.C417T p.G139G exonic ENSG00000152977.10 . synonymous SNV ENSG00000152977.10:ENST00000282928.5:exon1:c.C417T:p.G139G 3q24 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZIC1 156 0 136 40 0.227272727272727 TRUE TRUE +ENSG00000171564.11 . BCM GRCh38.p13 chr4 154563025 154563025 + A A C Silent SNP ENST00000302068.8 exon1 c.A7C p.R3R exonic ENSG00000171564.11 . synonymous SNV ENSG00000171564.11:ENST00000302068.8:exon1:c.A7C:p.R3R 4q31.3 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57418609;OCCURENCE=1(lung) FGB 324 0 132 58 0.305263157894737 TRUE TRUE +ENSG00000107937.19 . BCM GRCh38.p13 chr10 996015 996015 + C C G Silent SNP ENST00000360803.9 exon3 c.C306G p.A102A exonic ENSG00000107937.19 . synonymous SNV ENSG00000107937.19:ENST00000360803.9:exon3:c.C306G:p.A102A 10p15.3 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTPBP4 179 0 102 45 0.306122448979592 TRUE TRUE +ENSG00000188199.10 . BCM GRCh38.p13 chr10 79703684 79703684 + G G A Silent SNP ENST00000429828.5 exon1 c.G75A p.R25R exonic ENSG00000188199.10 . synonymous SNV ENSG00000188199.10:ENST00000429828.5:exon1:c.G75A:p.R25R 10q22.3 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUTM2B 26 0 27 9 0.25 NA TRUE +ENSG00000108239.9 . BCM GRCh38.p13 chr10 94497062 94497062 + G G A Silent SNP ENST00000225235.5 exon5 c.G1302A p.K434K exonic ENSG00000108239.9 . synonymous SNV ENSG00000108239.9:ENST00000225235.5:exon5:c.G1302A:p.K434K 10q23.33 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D12 209 0 105 28 0.210526315789474 TRUE TRUE +ENSG00000111644.8 . BCM GRCh38.p13 chr12 6644403 6644403 + C C T Silent SNP ENST00000229243.7 exon5 c.G678A p.Q226Q exonic ENSG00000111644.8 . synonymous SNV ENSG00000111644.8:ENST00000229243.7:exon5:c.G678A:p.Q226Q 12p13.31 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACRBP 227 0 116 57 0.329479768786127 TRUE TRUE +ENSG00000073712.15 . BCM GRCh38.p13 chr14 52881102 52881102 + A A G Silent SNP ENST00000341590.8 exon6 c.T789C p.D263D exonic ENSG00000073712.15 . synonymous SNV ENSG00000073712.15:ENST00000341590.8:exon6:c.T789C:p.D263D 14q22.1 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FERMT2 204 0 77 32 0.293577981651376 TRUE TRUE +ENSG00000140107.12 . BCM GRCh38.p13 chr14 100326162 100326162 + G G A Silent SNP ENST00000361529.5 exon3 c.G78A p.R26R exonic ENSG00000140107.12 . synonymous SNV ENSG00000140107.12:ENST00000361529.5:exon3:c.G78A:p.R26R 14q32.2 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A47 153 0 66 40 0.377358490566038 TRUE TRUE +ENSG00000181143.15 . BCM GRCh38.p13 chr19 8947661 8947661 + G G A Silent SNP ENST00000397910.8 exon3 c.C29109T p.T9703T exonic ENSG00000181143.15 . synonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.C29109T:p.T9703T 19p13.2 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC16 229 1 130 55 0.297297297297297 TRUE TRUE +ENSG00000124253.11 . BCM GRCh38.p13 chr20 57564489 57564489 + T T G Silent SNP ENST00000319441.6 exon8 c.T1194G p.P398P exonic ENSG00000124253.11 . synonymous SNV ENSG00000124253.11:ENST00000319441.6:exon8:c.T1194G:p.P398P 20q13.31 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCK1 351 0 154 70 0.3125 TRUE TRUE +ENSG00000100220.12 . BCM GRCh38.p13 chr22 32393934 32393934 + T T C Silent SNP ENST00000216038.6 exon10 c.A1248G p.E416E exonic ENSG00000100220.12 . synonymous SNV ENSG00000100220.12:ENST00000216038.6:exon10:c.A1248G:p.E416E 22q12.3 C3N-01808 8.237e-06 0 0 0 0.0002 0 0 0 rs760170995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RTCB 273 0 168 22 0.115789473684211 TRUE NA +ENSG00000118004.18 . BCM GRCh38.p13 chr2 3641326 3641326 + G G A Intron SNP NA NA NA NA intronic ENSG00000118004.18 . . . 2p25.3 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COLEC11 266 0 244 47 0.161512027491409 TRUE NA +ENSG00000135250.17 . BCM GRCh38.p13 chr7 105205966 105205966 + C C A Intron SNP NA NA NA NA intronic ENSG00000135250.17 . . . 7q22.3 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRPK2 222 1 167 31 0.156565656565657 TRUE NA +ENSG00000104231.11 . BCM GRCh38.p13 chr8 81708824 81708824 + A A G Intron SNP NA NA NA NA intronic ENSG00000104231.11 . . . 8q21.13 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFAND1 128 0 47 17 0.265625 TRUE NA +ENSG00000279725.1 . BCM GRCh38.p13 chr10 127736233 127736233 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000279725.1 . . . 10q26.2 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL391005.1 33 0 23 7 0.233333333333333 TRUE NA +ENSG00000075234.17 . BCM GRCh38.p13 chr22 46280109 46280109 + A A T Intron SNP NA NA NA NA intronic ENSG00000075234.17 . . . 22q13.31 C3N-01808 . . . . . . . . . 2.12 D D . . . N . . N . T T . 0.014 0.493 0.132 . . . T T T T -0.131 0.715 0.926 N N -0.726 0.770 -0.967 0.532 0.735 0.557 0.380 0.504 0.492 . 2.210 -1.580 -0.595 0.128 0.756 0.000 0.005 0.009 958 . . . . TTC38 136 0 75 29 0.278846153846154 TRUE TRUE +ENSG00000284363.1 . BCM GRCh38.p13 chrX 151958614 151958614 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000284363.1 . . . Xq28 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR224 140 1 86 12 0.122448979591837 TRUE NA +ENSG00000100243.21 . BCM GRCh38.p13 chr22 42623858 42623859 + GC GC AT Unknown MNP ENST00000352397.10 exon8 c.663_664delinsAT p.E221E exonic ENSG00000100243.21 . nonframeshift substitution ENSG00000100243.21:ENST00000352397.10:exon8:c.663_664delinsAT:p.E221E 22q13.2 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYB5R3 324 57 189 60 0.240963855421687 TRUE TRUE +ENSG00000082074.18 . BCM GRCh38.p13 chr5 39138832 39138833 + AC AC CT Unknown MNP NA NA NA NA intronic ENSG00000082074.18 . . . 5p13.1 C3N-01808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FYB1 150 20 70 21 0.230769230769231 TRUE NA