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 ENSG00000117713.20 . BCM GRCh38.p13 chr1 26774772 26774772 + C C - Frame_Shift_Del NA ENST00000324856.13 exon18 c.4545delC p.S1516Lfs*11 exonic ENSG00000117713.20 . frameshift deletion ENSG00000117713.20:ENST00000324856.13:exon18:c.4545delC:p.S1516Lfs*11 1p36.11 C3N-01388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID1A 191 1 415 27 0.0610859728506787 NA TRUE ENSG00000185104.20 . BCM GRCh38.p13 chr1 50567164 50567164 + A A G Missense_Mutation SNP ENST00000396153.7 exon13 c.T1181C p.M394T exonic ENSG00000185104.20 . nonsynonymous SNV ENSG00000185104.20:ENST00000396153.7:exon13:c.T1181C:p.M394T 1p32.3 C3N-01388 . . . . . . . . . 13.20 D T P P D D L T D 0.917 T T D 0.435 0.478 0.886 0.731 D D D D D D 3.032 23.500 0.989 D D 0.252 3.540 0.422 4.516 1.000 0.732 0.744 0.710 0.613 . 5.870 5.870 8.867 1.312 0.756 1.000 1.000 1.000 527 UAS . . . FAF1 83 0 250 15 0.0566037735849057 TRUE TRUE ENSG00000159409.15 . BCM GRCh38.p13 chr1 151709009 151709009 + G G A Missense_Mutation SNP ENST00000290583.9 exon5 c.C475T p.R159W exonic ENSG00000159409.15 . nonsynonymous SNV ENSG00000159409.15:ENST00000290583.9:exon5:c.C475T:p.R159W 1q21.3 C3N-01388 . . . . . . . . . 14.20 D D D D D D M T D 0.634 T T D 0.340 0.491 0.218 2.609 D T T T D D 4.840 33 0.998 D D 0.262 3.591 0.248 3.428 1.000 0.554 0.574 0.602 0.542 . 4.080 3.150 9.584 0.206 -0.161 1.000 0.999 0.989 324 RNA_recognition_motif_domain . . . CELF3 119 0 276 29 0.0950819672131148 TRUE TRUE ENSG00000158715.6 . BCM GRCh38.p13 chr1 205663445 205663445 + C C A Missense_Mutation SNP ENST00000367145.4 exon3 c.G346T p.D116Y exonic ENSG00000158715.6 . nonsynonymous SNV ENSG00000158715.6:ENST00000367145.4:exon3:c.G346T:p.D116Y 1q32.1 C3N-01388 . . . . . . . . . 7.20 T T B B N N L D N 0.369 D D D 0.387 0.481 0.542 0.464 T T D D T T 1.802 17.750 0.972 D N -0.524 1.130 -0.406 1.361 1.000 0.696 0.588 0.723 0.662 . 5.500 4.560 0.136 1.026 0.599 0.001 0.966 0.997 681 . . . . SLC45A3 220 0 497 114 0.18657937806874 TRUE TRUE ENSG00000163755.9 . BCM GRCh38.p13 chr3 149172181 149172181 + C C T Missense_Mutation SNP ENST00000296051.7 exon17 c.C2974T p.P992S exonic ENSG00000163755.9 . nonsynonymous SNV ENSG00000163755.9:ENST00000296051.7:exon17:c.C2974T:p.P992S 3q24 C3N-01388 . . . . . . . . . 18.20 D D D D D D M T D 0.845 D D D 0.619 0.716 0.938 0.591 T D D D D D 3.797 25.800 0.999 D D 0.846 9.756 0.849 11.742 1.000 0.707 0.725 0.725 0.714 . 6.060 6.060 6.554 1.026 0.594 1.000 0.995 0.995 921 Hermansky-Pudlak_syndrome_3_protein,_C-terminal_domain . . ID=COSV99224248;OCCURENCE=1(ovary) HPS3 175 0 277 24 0.079734219269103 TRUE TRUE ENSG00000090402.8 . BCM GRCh38.p13 chr3 165032682 165032682 + T T C Missense_Mutation SNP ENST00000264382.8 exon24 c.A2576G p.D859G exonic ENSG00000090402.8 . nonsynonymous SNV ENSG00000090402.8:ENST00000264382.8:exon24:c.A2576G:p.D859G 3q26.1 C3N-01388 . . . . . . . . . 3.20 T T B B N N L D D 0.206 T T D 0.158 0.480 0.750 0.033 T T T T T T 0.724 8.677 0.659 N N -1.012 0.391 -1.038 0.444 0.000 0.487 0.574 0.574 0.646 . 4.780 0.858 0.014 0.098 0.665 0.000 0.002 0.118 856 . . . . SI 103 0 234 20 0.078740157480315 TRUE TRUE ENSG00000215218.4 . BCM GRCh38.p13 chr5 6491221 6491221 + C C T Missense_Mutation SNP ENST00000399816.4 exon2 c.C358T p.R120W exonic ENSG00000215218.4 . nonsynonymous SNV ENSG00000215218.4:ENST00000399816.4:exon2:c.C358T:p.R120W 5p15.31 C3N-01388 . . . . . . . . . 17.19 D D D D U D M . D 0.836 D D D 0.815 0.659 0.334 . D T D D D D 4.280 29.400 0.999 D D 0.817 9.127 0.744 8.668 1.000 0.583 0.588 0.615 0.586 . 5.030 5.030 5.543 1.026 0.599 1.000 0.995 0.968 976 . . . ID=COSV101297099;OCCURENCE=2(endometrium) UBE2QL1 71 0 141 10 0.0662251655629139 TRUE TRUE ENSG00000134516.18 . BCM GRCh38.p13 chr5 170008597 170008597 + A A C Missense_Mutation SNP ENST00000520908.7 exon31 c.A3173C p.K1058T exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon31:c.A3173C:p.K1058T 5q35.1 C3N-01388 . . . . . . . . . 13.20 D T D D D D M T D 0.830 T T T 0.532 0.434 0.829 1.479 T T D D D D 4.700 32 0.995 D D 0.672 6.747 0.694 7.646 1.000 0.707 0.725 0.653 0.530 . 5.710 5.710 9.325 1.312 0.756 1.000 1.000 1.000 954 . . . ID=COSV56971995;OCCURENCE=2(large_intestine),1(stomach) DOCK2 230 0 519 47 0.0830388692579505 TRUE TRUE ENSG00000112195.9 . BCM GRCh38.p13 chr6 41198141 41198141 + G G A Missense_Mutation SNP ENST00000483722.2 exon2 c.C344T p.P115L exonic ENSG00000112195.9 . nonsynonymous SNV ENSG00000112195.9:ENST00000483722.2:exon2:c.C344T:p.P115L 6p21.1 C3N-01388 . . . . . . . . . 11.20 D D D D D D M T D 0.607 T T D 0.245 0.500 0.628 0.809 T T T T D T 3.290 24.100 0.998 D N 0.500 5.037 0.418 4.485 1.000 0.707 0.725 0.602 0.542 . 4.680 4.680 3.175 1.176 0.676 0.997 0.092 0.361 906 . . . ID=COSV72439213;OCCURENCE=1(central_nervous_system),1(skin) TREML2 70 0 157 10 0.0598802395209581 NA TRUE ENSG00000164663.14 . BCM GRCh38.p13 chr6 41798806 41798806 + A A C Nonsense_Mutation SNP ENST00000394253.7 exon6 c.T1794G p.Y598X exonic ENSG00000164663.14 . stopgain ENSG00000164663.14:ENST00000394253.7:exon6:c.T1794G:p.Y598X 6p21.1 C3N-01388 . . . . . . . . . 5.6 . . . . D D . . . 0.519 . . . . . . . . . D D . . 7.536 38 0.996 D N 0.864 10.165 0.768 9.250 1.000 0.707 0.654 0.725 0.492 . 6.170 6.170 3.951 1.312 0.756 1.000 1.000 1.000 476 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase;Ubiquitin_specific_protease,_conserved_site . . . USP49 466 1 889 67 0.0700836820083682 TRUE TRUE ENSG00000168830.8 . BCM GRCh38.p13 chr6 87015945 87015945 + G G A Missense_Mutation SNP ENST00000305344.7 exon2 c.G611A p.R204Q exonic ENSG00000168830.8 . nonsynonymous SNV ENSG00000168830.8:ENST00000305344.7:exon2:c.G611A:p.R204Q 6q14.3 C3N-01388 . . . . . . . . . 9.20 D D D P U D M T N 0.521 T T T 0.326 . 0.802 1.400 T T T T D D 3.893 26.300 0.999 D D 0.595 5.870 0.573 5.900 0.026 0.487 0.574 0.574 0.564 . 4.510 4.510 7.078 0.913 0.485 1.000 0.997 0.986 809 GPCR,_rhodopsin-like,_7TM . . ID=COSV59508189;OCCURENCE=1(breast),1(large_intestine),1(skin) HTR1E 100 0 233 23 0.08984375 TRUE TRUE ENSG00000120549.18 . BCM GRCh38.p13 chr10 24524535 24524535 + C C A Missense_Mutation SNP ENST00000376454.8 exon13 c.C2669A p.S890Y exonic ENSG00000120549.18 . nonsynonymous SNV ENSG00000120549.18:ENST00000376454.8:exon13:c.C2669A:p.S890Y 10p12.1 C3N-01388 . . . . . . . . . 15.20 D D D D D D M T D 0.526 T T D 0.298 0.353 0.746 0.604 T D D T D D 3.186 23.800 0.994 D D 0.584 5.767 0.519 5.337 1.000 0.693 0.659 0.644 0.668 . 5.420 5.420 7.369 0.999 0.548 1.000 0.512 0.403 933 . . . . KIAA1217 338 0 677 63 0.0851351351351351 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-01388 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 275 0 602 50 0.0766871165644172 TRUE TRUE ENSG00000048471.14 . BCM GRCh38.p13 chr16 12278019 12278019 + G G A Missense_Mutation SNP ENST00000566228.6 exon15 c.G1765A p.E589K exonic ENSG00000048471.14 . nonsynonymous SNV ENSG00000048471.14:ENST00000566228.6:exon15:c.G1765A:p.E589K 16p13.13 C3N-01388 . . . . . . . . . 10.18 D T . . D N M T D 0.764 T T D 0.156 . 0.570 . T T D D D D 3.414 24.400 0.999 D N 0.190 3.259 0.199 3.179 0.985 0.707 0.725 0.602 0.655 . 5.460 5.460 5.404 1.176 0.676 1.000 0.831 0.616 933 . . . . SNX29 238 0 493 41 0.0767790262172285 TRUE NA ENSG00000181284.3 . BCM GRCh38.p13 chr17 7436910 7436910 + C C T Missense_Mutation SNP ENST00000323206.2 exon3 c.C931T p.R311C exonic ENSG00000181284.3 . nonsynonymous SNV ENSG00000181284.3:ENST00000323206.2:exon3:c.C931T:p.R311C 17p13.1 C3N-01388 . . . . . . . . . 8.19 D D D D N D L T N 0.208 T T D 0.121 0.459 0.355 . T T T T D . 3.819 25.900 0.999 D N 0.295 3.753 0.265 3.522 1.000 0.726 0.594 0.522 0.373 . 4.470 4.470 0.884 1.026 0.599 0.988 0.558 0.305 301 Mab-21_domain . . . TMEM102 193 0 299 25 0.0771604938271605 TRUE TRUE ENSG00000130701.4 . BCM GRCh38.p13 chr20 62415591 62415591 + C C T Missense_Mutation SNP ENST00000252998.2 exon8 c.G614A p.R205Q exonic ENSG00000130701.4 . nonsynonymous SNV ENSG00000130701.4:ENST00000252998.2:exon8:c.G614A:p.R205Q 20q13.33 C3N-01388 1.681e-05 0 8.663e-05 0 0 1.541e-05 0 0 rs757950710 3.20 D T D P N N L T N 0.196 T T T 0.107 . 0.201 0.289 T T T T D T 2.673 22.800 0.998 N N -0.373 1.442 -0.536 1.144 0.932 0.515 0.547 0.604 0.563 . 4.240 3.290 0.557 1.022 0.596 0.429 0.082 0.075 819 . . . . RBBP8NL 203 0 508 45 0.081374321880651 TRUE NA ENSG00000068354.16 . BCM GRCh38.p13 chrX 48560539 48560539 + T T C Missense_Mutation SNP ENST00000376771.9 exon6 c.T1631C p.L544S exonic ENSG00000068354.16 . nonsynonymous SNV ENSG00000068354.16:ENST00000376771.9:exon6:c.T1631C:p.L544S Xp11.23 C3N-01388 . . . . . . . . . 3.19 T D P B N D L T N 0.326 T T T 0.052 0.183 0.189 1.720 T T T T T T 1.379 14.940 0.984 D . . . . . 0.887 . . . . . 4.940 4.940 2.588 0.207 -0.113 1.000 0.051 0.021 178 . . . . TBC1D25 91 0 218 14 0.0603448275862069 TRUE TRUE ENSG00000131263.13 . BCM GRCh38.p13 chrX 74591787 74591787 + G G A Nonsense_Mutation SNP ENST00000332687.11 exon4 c.C1528T p.R510X exonic ENSG00000131263.13 . stopgain ENSG00000131263.13:ENST00000332687.11:exon4:c.C1528T:p.R510X Xq13.2 C3N-01388 . . . . . . . . . 4.5 . . . . N D . . . 0.867 . . . . . . . . . D D . . 5.638 34 0.997 D . . . . . 0.989 . . . . . 5.410 4.520 1.114 -0.191 -0.676 0.999 0.992 0.537 99 . . . . RLIM 219 0 371 53 0.125 NA TRUE ENSG00000268089.3 . BCM GRCh38.p13 chrX 152649294 152649294 + C C T Missense_Mutation SNP ENST00000598523.3 exon5 c.C571T p.P191S exonic ENSG00000268089.3 . nonsynonymous SNV ENSG00000268089.3:ENST00000598523.3:exon5:c.C571T:p.P191S Xq28 C3N-01388 . . . . . . . . . 11.12 . D . . D D . D . 0.946 D D D 0.980 0.914 0.949 . T . D D D . 3.283 24.100 0.999 D . . . . . 1.000 . . . . . 5.800 5.800 7.905 1.026 0.599 1.000 0.996 0.988 620 . . . ID=COSV100941094;OCCURENCE=1(skin) GABRQ 237 0 423 37 0.0804347826086956 TRUE TRUE ENSG00000163377.16 . BCM GRCh38.p13 chr3 68752972 68752972 + G G A Silent SNP ENST00000295569.12 exon4 c.C177T p.H59H exonic ENSG00000163377.16 . synonymous SNV ENSG00000163377.16:ENST00000295569.12:exon4:c.C177T:p.H59H 3p14.1 C3N-01388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAFA4 329 0 448 39 0.080082135523614 TRUE TRUE ENSG00000112787.13 . BCM GRCh38.p13 chr12 132583130 132583130 + C C T Silent SNP ENST00000434748.2 exon17 c.C2490T p.S830S exonic ENSG00000112787.13 . synonymous SNV ENSG00000112787.13:ENST00000434748.2:exon17:c.C2490T:p.S830S 12q24.33 C3N-01388 0.0002 0 0 0 . 0 0 0.0003 rs780304489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBRSL1 124 0 185 24 0.114832535885167 TRUE NA ENSG00000069966.18 . BCM GRCh38.p13 chr15 52124557 52124557 + A A G Silent SNP ENST00000261837.11 exon12 c.T1092C p.F364F exonic ENSG00000069966.18 . synonymous SNV ENSG00000069966.18:ENST00000261837.11:exon12:c.T1092C:p.F364F 15q21.2 C3N-01388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GNB5 229 0 388 36 0.0849056603773585 TRUE TRUE ENSG00000261713.6 . BCM GRCh38.p13 chr16 1066375 1066375 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000261713.6;ENSG00000261720.1 . . . 16p13.3 C3N-01388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSTR5-AS1 128 0 209 22 0.0952380952380952 TRUE NA ENSG00000102024.18 . BCM GRCh38.p13 chrX 115640110 115640110 + C C T Intron SNP NA NA NA NA intronic ENSG00000102024.18 . . . Xq23 C3N-01388 . . . . . . . . . 8.11 . D . . . D . . . 0.598 D D D 0.345 0.441 0.772 . . T D T D T 3.171 23.800 0.999 D . . . . . 1.000 . . . . . 5.790 5.790 5.419 1.026 0.599 1.000 1.000 0.998 889 Calponin_homology_domain . . . PLS3 66 1 157 10 0.0598802395209581 TRUE TRUE ENSG00000081248.11 . BCM GRCh38.p13 chr1 201087897 201087897 + C C A Missense_Mutation SNP ENST00000362061.4 exon7 c.G933T p.W311C exonic ENSG00000081248.11 . nonsynonymous SNV ENSG00000081248.11:ENST00000362061.4:exon7:c.G933T:p.W311C 1q32.1 C3L-03388 . . . . . . . . . 20.20 D D D D D D H D D 0.925 D D D 0.873 0.677 0.960 0.642 D D D D D D 4.723 32 0.973 D D 0.847 9.779 0.768 9.254 1.000 0.447 0.563 0.547 0.530 . 4.820 4.820 5.926 1.026 0.599 1.000 1.000 1.000 917 Ion_transport_domain . . . CACNA1S 457 0 473 239 0.335674157303371 TRUE TRUE ENSG00000143951.16 . BCM GRCh38.p13 chr2 63433844 63433844 + C C A Missense_Mutation SNP ENST00000272321.12 exon9 c.G726T p.W242C exonic ENSG00000143951.16 . nonsynonymous SNV ENSG00000143951.16:ENST00000272321.12:exon9:c.G726T:p.W242C 2p15 C3L-03388 . . . . . . . . . 15.20 D D D D D D M T D 0.943 T T D 0.558 0.801 0.831 0.689 T T D D D D 4.002 27.000 0.990 D D 0.791 8.599 0.760 9.045 0.999 0.615 0.588 0.659 0.655 . 5.430 5.430 5.851 1.026 0.599 1.000 1.000 0.996 481 . . . . WDPCP 166 0 155 24 0.134078212290503 TRUE TRUE ENSG00000168038.11 . BCM GRCh38.p13 chr3 41800256 41800256 + A A G Missense_Mutation SNP ENST00000301831.9 exon20 c.T1886C p.I629T exonic ENSG00000168038.11 . nonsynonymous SNV ENSG00000168038.11:ENST00000301831.9:exon20:c.T1886C:p.I629T 3p22.1 C3L-03388 . . . . . . . . rs980545512 13.20 D D D P U D M T D 0.774 T T D 0.573 0.586 0.699 0.194 T T D D D D 3.744 25.600 0.998 D D 0.563 5.565 0.517 5.320 1.000 0.615 0.588 0.602 0.655 . 5.320 5.320 8.589 1.312 0.756 0.993 1.000 0.996 690 . . . . ULK4 212 0 224 39 0.14828897338403 TRUE NA ENSG00000196578.4 . BCM GRCh38.p13 chr3 98087309 98087309 + G G A Missense_Mutation SNP ENST00000358642.2 exon1 c.G137A p.G46E exonic ENSG00000196578.4 . nonsynonymous SNV ENSG00000196578.4:ENST00000358642.2:exon1:c.G137A:p.G46E 3q11.2 C3L-03388 . . . . . . . . . 7.20 D D D D U N M T D 0.482 T T T 0.078 0.597 0.518 0.067 T T T T D T 2.172 20.700 0.997 N N 0.364 4.130 0.195 3.161 0.001 0.487 0.574 0.547 0.564 . 5.200 4.320 0.037 0.111 0.600 0.000 0.004 0.005 758 GPCR,_rhodopsin-like,_7TM . . . OR5AC2 268 0 280 17 0.0572390572390572 TRUE TRUE ENSG00000172497.9 . BCM GRCh38.p13 chr5 81371793 81371793 + G G A Missense_Mutation SNP ENST00000307624.8 exon3 c.C215T p.T72I exonic ENSG00000172497.9 . nonsynonymous SNV ENSG00000172497.9:ENST00000307624.8:exon3:c.C215T:p.T72I 5q14.1 C3L-03388 . . . . . . . . . 2.20 T T B B N D N T D 0.311 T T T 0.122 0.611 0.176 0.107 T T T T T T 2.767 23.000 0.948 N N -0.291 1.636 -0.136 1.949 1.000 0.554 0.574 0.618 0.542 . 5.800 3.810 0.820 1.176 0.676 1.000 1.000 0.981 647 Hotdog_acyl-CoA_thioesterase_(ACOT)-type_domain;Thioesterase_domain . . . ACOT12 333 0 366 55 0.130641330166271 TRUE TRUE ENSG00000124721.18 . BCM GRCh38.p13 chr6 38783040 38783040 + G G A Missense_Mutation SNP ENST00000359357.7 exon15 c.G1645A p.A549T exonic ENSG00000124721.18 . nonsynonymous SNV ENSG00000124721.18:ENST00000359357.7:exon15:c.G1645A:p.A549T 6p21.2 C3L-03388 . . . . . . . . . 3.19 T . B B N D L T N 0.420 T T T 0.083 0.304 0.542 0.119 T T T T D T 2.302 21.600 0.991 D N -0.341 1.517 -0.125 1.977 1.000 0.428 0.547 0.547 0.613 . 5.830 4.020 2.631 0.184 0.676 1.000 0.994 0.980 595 Dynein_heavy_chain,_domain-1 . . ID=COSV59426631;OCCURENCE=1(endometrium) DNAH8 250 0 289 46 0.137313432835821 TRUE TRUE ENSG00000112249.14 . BCM GRCh38.p13 chr6 100725687 100725687 + G G A Missense_Mutation SNP ENST00000369162.7 exon11 c.C1754T p.P585L exonic ENSG00000112249.14 . nonsynonymous SNV ENSG00000112249.14:ENST00000369162.7:exon11:c.C1754T:p.P585L 6q16.3 C3L-03388 . . . . . . . . . 17.20 D D D D D D H T D 0.955 D T D 0.720 0.805 0.667 0.801 D T D D D D 4.474 32 0.998 D D 1.091 17.129 0.980 17.662 1.000 0.706 0.725 0.710 0.613 . 5.230 5.230 9.597 1.176 0.618 1.000 0.990 0.950 778 AAA+_ATPase_domain;Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . ASCC3 313 0 347 37 0.0963541666666667 TRUE TRUE ENSG00000170835.16 . BCM GRCh38.p13 chr9 133071603 133071603 + C C G Missense_Mutation SNP ENST00000372080.8 exon11 c.C2101G p.P701A exonic ENSG00000170835.16 . nonsynonymous SNV ENSG00000170835.16:ENST00000372080.8:exon11:c.C2101G:p.P701A 9q34.13 C3L-03388 . . . . . . . . . 1.16 T T . . . N . T N 0.208 T T D 0.072 . 0.161 0.237 T T T T T T -0.837 0.021 0.389 N N -1.838 0.020 -1.922 0.020 0.199 0.403 0.547 0.578 0.563 . 1.630 -2.580 -0.427 -4.124 -0.782 0.000 0.000 0.002 962 Mucin-like_domain . . ID=COSV60828254;OCCURENCE=1(pancreas) CEL 224 1 203 37 0.154166666666667 NA TRUE ENSG00000151208.17 . BCM GRCh38.p13 chr10 77829361 77829361 + G G A Nonsense_Mutation SNP ENST00000372391.7 exon12 c.C2179T p.Q727X exonic ENSG00000151208.17 . stopgain ENSG00000151208.17:ENST00000372391.7:exon12:c.C2179T:p.Q727X 10q22.3 C3L-03388 . . . . . . . . . 4.6 . . . . N A . . . 0.849 . . . . . . . . . D D . . 8.386 42 0.998 D N 1.002 13.995 0.884 13.085 1.000 0.732 0.546 0.744 0.714 . 5.290 5.290 9.602 1.176 0.676 1.000 1.000 0.972 628 PDZ_domain . . . DLG5 434 0 490 73 0.129662522202487 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3L-03388 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 373 0 915 80 0.0804020100502513 TRUE TRUE ENSG00000102452.17 . BCM GRCh38.p13 chr13 101395197 101395197 + G G A Missense_Mutation SNP ENST00000251127.11 exon3 c.C277T p.R93W exonic ENSG00000102452.17 . nonsynonymous SNV ENSG00000102452.17:ENST00000251127.11:exon3:c.C277T:p.R93W 13q33.1 C3L-03388 8.335e-06 0 0 0 0 1.51e-05 0 0 rs778761293 19.20 D D D D D D L D D 0.875 D D D 0.929 0.703 0.776 2.027 D D D D D D 4.424 31 0.999 D D 0.760 8.041 0.742 8.609 1.000 0.706 0.590 0.618 0.613 . 5.750 5.750 3.988 1.176 0.676 1.000 0.893 0.979 946 Ion_transport_domain . . ID=COSV51932802;OCCURENCE=1(oesophagus),3(large_intestine),1(central_nervous_system),1(skin) NALCN 105 0 91 23 0.201754385964912 TRUE TRUE ENSG00000140400.17 . BCM GRCh38.p13 chr15 75359689 75359689 + C C T Missense_Mutation SNP ENST00000267978.10 exon16 c.G1879A p.V627I exonic ENSG00000140400.17 . nonsynonymous SNV ENSG00000140400.17:ENST00000267978.10:exon16:c.G1879A:p.V627I 15q24.2 C3L-03388 1.659e-05 0 0 0 0 3.019e-05 0 0 rs748277033 1.20 T T B B N N N T N 0.166 T T D 0.238 0.530 0.217 0.066 T T T T T T 0.591 7.428 0.776 N N -0.949 0.460 -0.853 0.685 1.000 0.672 0.698 0.644 0.711 . 5.050 1.850 0.312 -0.214 -0.173 0.078 0.941 0.600 518 Glycosyl_hydrolase_family_38,_C-terminal . . ID=COSV51228106;OCCURENCE=1(large_intestine),1(bone) MAN2C1 293 0 300 71 0.191374663072776 TRUE TRUE ENSG00000158865.12 . BCM GRCh38.p13 chr16 24875709 24875709 + T T C Missense_Mutation SNP ENST00000347898.7 exon6 c.T455C p.I152T exonic ENSG00000158865.12 . nonsynonymous SNV ENSG00000158865.12:ENST00000347898.7:exon6:c.T455C:p.I152T 16p12.1 C3L-03388 8.589e-06 0 0 0 0 1.541e-05 0 0 rs761238809 15.20 D D B B N D M D D 0.855 D D D 0.723 0.625 0.753 0.221 T T D D D D 3.082 23.600 0.991 D D 0.127 2.993 0.199 3.176 0.636 0.487 0.574 0.547 0.564 . 4.370 4.370 7.411 1.131 0.656 1.000 0.992 0.787 819 . . . . SLC5A11 218 0 264 58 0.180124223602484 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7670700 7670700 + G G A Missense_Mutation SNP ENST00000269305.8 exon10 c.C1009T p.R337C exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon10:c.C1009T:p.R337C 17p13.1 C3L-03388 8.521e-06 0.0001 0 0 0 0 0 0 rs587782529 15.20 D D P B D D L D D 0.879 D D D 0.715 0.932 0.995 0.174 T D D D D D 2.158 20.500 0.970 D N -0.152 2.017 -0.264 1.640 0.001 0.707 0.702 0.725 0.714 . 5.430 3.380 0.877 1.174 0.676 0.001 0.920 0.687 450 p53,_tetramerisation_domain . . ID=COSV52669243;OCCURENCE=1(salivary_gland),19(breast),2(penis),1(peritoneum),4(liver),4(oesophagus),4(adrenal_gland),23(large_intestine),9(central_nervous_system),2(biliary_tract),1(ovary),1(vulva),2(NS),13(haematopoietic_and_lymphoid_tissue),9(stomach),2(soft_tissue),5(kidney),5(pancreas),1(skin),3(prostate),7(lung),4(thyroid),7(upper_aerodigestive_tract),2(endometrium) TP53 412 0 348 75 0.177304964539007 TRUE TRUE ENSG00000154262.13 . BCM GRCh38.p13 chr17 69083312 69083312 + C C T Missense_Mutation SNP ENST00000284425.7 exon35 c.G4375A p.V1459I exonic ENSG00000154262.13 . nonsynonymous SNV ENSG00000154262.13:ENST00000284425.7:exon35:c.G4375A:p.V1459I 17q24.2 C3L-03388 4.27e-05 0 0.0003 0 0 1.534e-05 0 6.982e-05 rs752169862 3.20 T T B B N N N D N 0.109 T D T 0.187 . 0.500 0.031 T T T T D T 0.005 1.367 0.779 N N -1.237 0.202 -1.273 0.228 0.000 0.707 0.654 0.547 0.714 . 5.190 -2.610 -0.004 -3.026 -1.571 0.000 0.000 0.002 963 ABC_transporter-like;AAA+_ATPase_domain . . . ABCA6 148 0 163 42 0.204878048780488 TRUE NA ENSG00000152240.13 . BCM GRCh38.p13 chr18 46125784 46125784 + G G A Missense_Mutation SNP ENST00000282058.11 exon8 c.G779A p.R260Q exonic ENSG00000152240.13 . nonsynonymous SNV ENSG00000152240.13:ENST00000282058.11:exon8:c.G779A:p.R260Q 18q21.1 C3L-03388 3.838e-05 0 0.0002 0 0 0 0 0.0001 rs749832789 7.19 D T P B D D M . N 0.630 T T T 0.160 0.524 0.550 0.162 T T T D T T 3.508 24.700 0.995 D D 0.396 4.317 0.483 5.004 0.999 0.707 0.709 0.725 0.714 . 5.780 5.780 4.584 1.161 0.676 1.000 0.994 0.959 976 . . . ID=COSV99959528;OCCURENCE=1(endometrium) HAUS1 178 0 190 30 0.136363636363636 TRUE NA ENSG00000118046.16 . BCM GRCh38.p13 chr19 1207137 1207139 + GGG GGG - In_Frame_Del DEL ENST00000326873.12 exon1 c.224_226del p.R75_A76delinsT exonic ENSG00000118046.16 . nonframeshift deletion ENSG00000118046.16:ENST00000326873.12:exon1:c.224_226del:p.R75_A76delinsT 19p13.3 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STK11 314 0 213 47 0.180769230769231 TRUE TRUE ENSG00000198046.12 . BCM GRCh38.p13 chr19 56442538 56442538 + A A T Missense_Mutation SNP ENST00000504904.8 exon7 c.T457A p.F153I exonic ENSG00000198046.12 . nonsynonymous SNV ENSG00000198046.12:ENST00000504904.8:exon7:c.T457A:p.F153I 19q13.43 C3L-03388 . . . . . . . . . 12.20 D D D D D D M T D 0.547 T T T 0.354 . 0.683 0.484 T T T T D D 3.376 24.300 0.983 D D 0.566 5.595 0.423 4.522 0.983 0.563 0.574 0.609 0.564 . 4.860 4.860 6.724 1.312 0.756 1.000 0.857 0.234 988 Zinc_finger_C2H2-type . . . ZNF667 161 0 193 31 0.138392857142857 TRUE TRUE ENSG00000125815.9 . BCM GRCh38.p13 chr20 23491887 23491887 + G G A Missense_Mutation SNP ENST00000246012.2 exon2 c.G220A p.A74T exonic ENSG00000125815.9 . nonsynonymous SNV ENSG00000125815.9:ENST00000246012.2:exon2:c.G220A:p.A74T 20p11.21 C3L-03388 1.648e-05 0 0 0 0 2.999e-05 0 0 rs750316947 4.20 D T D P N N M T N 0.175 T T T 0.128 0.640 0.497 0.003 T T T T D T 1.784 17.620 0.996 N N -0.041 2.369 -0.266 1.636 0.001 0.487 0.574 0.574 0.564 . 4.150 3.180 1.290 1.135 0.668 0.018 0.013 0.037 867 Cystatin_domain . . . CST8 302 0 254 48 0.158940397350993 TRUE NA ENSG00000087510.7 . BCM GRCh38.p13 chr20 56634226 56634226 + C C T Missense_Mutation SNP ENST00000201031.3 exon5 c.C880T p.R294W exonic ENSG00000087510.7 . nonsynonymous SNV ENSG00000087510.7:ENST00000201031.3:exon5:c.C880T:p.R294W 20q13.31 C3L-03388 . . . . . . . . . 19.20 D D D D D D M D D 0.953 D D D 0.816 0.966 0.990 1.943 D D D D D D 3.534 24.800 0.998 N D 0.118 2.957 -0.088 2.082 1.000 0.648 0.590 0.693 0.542 . 5.300 1.940 0.895 1.026 0.599 0.297 0.915 0.288 976 Transcription_factor_AP-2,_C-terminal . . . TFAP2C 399 1 452 81 0.151969981238274 TRUE TRUE ENSG00000130540.14 . BCM GRCh38.p13 chr22 43826033 43826033 + T T G Missense_Mutation SNP ENST00000330884.9 exon7 c.A823C p.K275Q exonic ENSG00000130540.14 . nonsynonymous SNV ENSG00000130540.14:ENST00000330884.9:exon7:c.A823C:p.K275Q 22q13.31 C3L-03388 . . . . . . . . . 8.20 T T P B D D L D N 0.561 T T D 0.491 0.533 0.341 1.161 T T T T D D 2.824 23.100 0.994 D D 0.358 4.093 0.466 4.867 1.000 0.707 0.610 0.725 0.655 . 5.630 5.630 7.838 1.138 0.665 1.000 1.000 1.000 900 Sulfotransferase_domain . . . SULT4A1 225 0 223 50 0.183150183150183 TRUE TRUE ENSG00000182872.16 . BCM GRCh38.p13 chrX 47175060 47175060 + C C T Nonsense_Mutation SNP ENST00000377604.8 exon6 c.C544T p.Q182X exonic ENSG00000182872.16 . stopgain ENSG00000182872.16:ENST00000377604.8:exon6:c.C544T:p.Q182X Xp11.3 C3L-03388 . . . . . . . . . 5.5 . . . . D A . . . 0.782 . . . . . . . . . D D . . 6.557 36 0.998 D . . . . . 1.000 . . . . . 4.530 4.530 7.859 1.022 0.594 1.000 1.000 1.000 318 RNA_recognition_motif_domain . . ID=COSV61311469;OCCURENCE=1(biliary_tract) RBM10 385 1 313 154 0.329764453961456 TRUE TRUE ENSG00000050030.15 . BCM GRCh38.p13 chrX 74740211 74740211 + C C T Missense_Mutation SNP ENST00000055682.12 exon3 c.G4346A p.R1449H exonic ENSG00000050030.15 . nonsynonymous SNV ENSG00000050030.15:ENST00000055682.12:exon3:c.G4346A:p.R1449H Xq13.3 C3L-03388 2.281e-05 0 0 0.0002 0 0 0 9.882e-05 rs778760434 12.18 D D D D D D . T N 0.755 T T D 0.295 . 0.728 0.937 T T D D D D 3.822 25.900 0.999 D . . . . . 1.000 . . . . . 5.360 5.360 7.568 1.026 0.549 1.000 1.000 0.993 103 . . . ID=COSV50022011;OCCURENCE=1(breast),1(large_intestine) NEXMIF 231 1 196 62 0.24031007751938 TRUE TRUE ENSG00000171502.15 . BCM GRCh38.p13 chr1 85784137 85784137 + A A G Silent SNP ENST00000370571.7 exon50 c.T4197C p.G1399G exonic ENSG00000171502.15 . synonymous SNV ENSG00000171502.15:ENST00000370571.7:exon50:c.T4197C:p.G1399G 1p22.3 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL24A1 150 0 142 15 0.0955414012738854 TRUE NA ENSG00000162771.8 . BCM GRCh38.p13 chr1 212626599 212626599 + G G T Silent SNP ENST00000294829.5 exon1 c.G1722T p.G574G exonic ENSG00000162771.8 . synonymous SNV ENSG00000162771.8:ENST00000294829.5:exon1:c.G1722T:p.G574G 1q32.3 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM71A 291 0 292 46 0.136094674556213 TRUE TRUE ENSG00000177212.4 . BCM GRCh38.p13 chr1 248273449 248273449 + C C T Silent SNP ENST00000641220.1 exon2 c.G366A p.A122A exonic ENSG00000177212.4 . synonymous SNV ENSG00000177212.4:ENST00000641220.1:exon2:c.G366A:p.A122A 1q44 C3L-03388 2.502e-05 0 0 0 0 1.516e-05 0 0.0001 rs757226382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58814743;OCCURENCE=2(large_intestine),1(urinary_tract) OR2T33 567 0 657 53 0.0746478873239437 NA TRUE ENSG00000073331.18 . BCM GRCh38.p13 chr4 112429223 112429223 + C C T Silent SNP ENST00000650871.1 exon10 c.C870T p.A290A exonic ENSG00000073331.18 . synonymous SNV ENSG00000073331.18:ENST00000650871.1:exon10:c.C870T:p.A290A 4q25 C3L-03388 0.0011 0 0.0008 0 0 0.0001 0.0022 0.0067 rs199772759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALPK1 235 0 214 42 0.1640625 TRUE NA ENSG00000197790.1 . BCM GRCh38.p13 chr11 4545619 4545619 + G G A Silent SNP ENST00000360213.1 exon1 c.G429A p.V143V exonic ENSG00000197790.1 . synonymous SNV ENSG00000197790.1:ENST00000360213.1:exon1:c.G429A:p.V143V 11p15.4 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR52M1 141 0 152 20 0.116279069767442 TRUE TRUE ENSG00000134909.18 . BCM GRCh38.p13 chr11 128969717 128969717 + G G A Silent SNP ENST00000310343.13 exon22 c.C5454T p.A1818A exonic ENSG00000134909.18 . synonymous SNV ENSG00000134909.18:ENST00000310343.13:exon22:c.C5454T:p.A1818A 11q24.3 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP32 577 1 568 82 0.126153846153846 TRUE TRUE ENSG00000137878.17 . BCM GRCh38.p13 chr15 57709200 57709200 + C C T Silent SNP ENST00000299638.8 exon2 c.C600T p.T200T exonic ENSG00000137878.17;ENSG00000255529.9 . synonymous SNV ENSG00000255529.9:ENST00000299638.8:exon2:c.C600T:p.T200T,ENSG00000137878.17:ENST00000587652.5:exon13:c.C1791T:p.T597T 15q21.3 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GCOM1 523 0 417 140 0.251346499102334 NA TRUE ENSG00000105428.6 . BCM GRCh38.p13 chr19 5456118 5456118 + C C T Silent SNP ENST00000222033.6 exon1 c.C627T p.I209I exonic ENSG00000105428.6 . synonymous SNV ENSG00000105428.6:ENST00000222033.6:exon1:c.C627T:p.I209I 19p13.3 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNRF4 500 0 381 85 0.182403433476395 TRUE TRUE ENSG00000105143.12 . BCM GRCh38.p13 chr19 14956643 14956643 + G G T Silent SNP ENST00000221742.7 exon6 c.C1002A p.V334V exonic ENSG00000105143.12 . synonymous SNV ENSG00000105143.12:ENST00000221742.7:exon6:c.C1002A:p.V334V 19p13.12 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC1A6 266 0 271 15 0.0524475524475524 TRUE TRUE ENSG00000117222.14 . BCM GRCh38.p13 chr1 205115903 205115903 + G G T Intron SNP NA NA NA NA intronic ENSG00000117222.14 . . . 1q32.1 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBBP5 167 0 251 29 0.103571428571429 TRUE NA ENSG00000074054.18 . BCM GRCh38.p13 chr2 121427460 121427460 + G G C Intron SNP NA NA NA NA intronic ENSG00000074054.18 . . . 2q14.2 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLASP1 346 0 383 69 0.152654867256637 TRUE NA ENSG00000161040.16 . BCM GRCh38.p13 chr7 103055154 103055154 + C C T Intron SNP NA NA NA NA intronic ENSG00000161040.16 . . . 7q22.1 C3L-03388 . . . . . . . . . 2.14 T T . . U D . T N 0.149 T T . 0.053 0.273 0.277 . . . T T T T 1.903 18.510 0.799 D N -0.038 2.378 -0.049 2.197 0.720 0.554 0.588 0.602 0.568 . 4.880 4.000 0.592 1.008 0.599 0.969 0.994 0.950 619 . . . ID=COSV57542752;OCCURENCE=1(breast) FBXL13 142 0 220 17 0.0717299578059072 TRUE NA ENSG00000199151.3 . BCM GRCh38.p13 chr14 100874522 100874522 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199151.3 . . . 14q32.2 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR337 257 0 244 51 0.172881355932203 TRUE NA ENSG00000126858.18 . BCM GRCh38.p13 chr17 32211226 32211226 + C C A Intron SNP NA NA NA NA intronic ENSG00000126858.18 . . . 17q11.2 C3L-03388 . . . . . . . . . 6.19 T D P P D D . T N 0.749 T T T 0.173 0.459 0.681 0.668 T T T T D D 2.850 23.100 0.903 D N 0.085 2.829 0.261 3.497 0.279 0.732 0.709 0.744 0.636 . 5.600 5.600 3.571 1.026 0.599 1.000 1.000 1.000 946 . . . . RHOT1 104 0 93 18 0.162162162162162 TRUE TRUE ENSG00000160460.16 . BCM GRCh38.p13 chr19 40554773 40554773 + C C A Intron SNP NA NA NA NA intronic ENSG00000160460.16 . . . 19q13.2 C3L-03388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPTBN4 43 0 70 14 0.166666666666667 TRUE NA ENSG00000143032.8 . BCM GRCh38.p13 chr1 90716609 90716609 + T T A Missense_Mutation SNP ENST00000370445.5 exon1 c.A587T p.D196V exonic ENSG00000143032.8 . nonsynonymous SNV ENSG00000143032.8:ENST00000370445.5:exon1:c.A587T:p.D196V 1p22.2 C3N-02589 . . . . . . . . . 15.20 D D P P D D M D N 0.737 D D D 0.513 0.251 0.982 0.749 T T D D D D 4.181 28.500 0.985 D D 0.456 4.713 0.551 5.664 1.000 0.598 0.596 0.378 0.639 . 5.710 5.710 7.285 1.138 0.665 1.000 1.000 0.999 815 . . . . BARHL2 575 1 579 58 0.0910518053375196 TRUE TRUE ENSG00000132676.16 . BCM GRCh38.p13 chr1 155737049 155737049 + T T A Missense_Mutation SNP ENST00000368336.10 exon12 c.T1097A p.L366H exonic ENSG00000132676.16 . nonsynonymous SNV ENSG00000132676.16:ENST00000368336.10:exon12:c.T1097A:p.L366H 1q22 C3N-02589 . . . . . . . . . 16.20 D D D D D D M T D 0.846 T T D 0.681 0.792 0.774 0.627 T D D D D D 4.116 27.900 0.979 D D 0.767 8.173 0.728 8.305 0.998 0.707 0.725 0.725 0.714 . 5.280 5.280 5.736 1.138 0.665 1.000 1.000 0.998 68 . . . . DAP3 174 0 187 31 0.142201834862385 TRUE TRUE ENSG00000119042.17 . BCM GRCh38.p13 chr2 199380434 199380434 + C C T Missense_Mutation SNP ENST00000417098.6 exon5 c.G527A p.R176H exonic ENSG00000119042.17 . nonsynonymous SNV ENSG00000119042.17:ENST00000417098.6:exon5:c.G527A:p.R176H 2q33.1 C3N-02589 . . . . . . . . . 19.20 D D D D D D M T D 0.815 D D D 0.704 0.419 0.931 2.458 D D D D D D 4.206 28.700 0.999 D D 0.792 8.626 0.798 10.054 1.000 0.549 0.574 0.618 0.616 . 5.670 5.670 7.905 1.026 0.599 1.000 1.000 1.000 807 SATB,_CUT1-like_DNA-binding_domain . . ID=COSV53481443;OCCURENCE=2(thyroid) SATB2 403 1 471 33 0.0654761904761905 TRUE TRUE ENSG00000212122.4 . BCM GRCh38.p13 chr5 113434248 113434248 + C C T Missense_Mutation SNP ENST00000390666.4 exon1 c.G592A p.D198N exonic ENSG00000212122.4 . nonsynonymous SNV ENSG00000212122.4:ENST00000390666.4:exon1:c.G592A:p.D198N 5q22.2 C3N-02589 0.0001 0 8.64e-05 0 0 2.998e-05 0 0.0008 rs560296208 12.20 D D D D U D H T D 0.760 D D T 0.573 . 0.894 0.496 T T T T D D 3.074 23.600 0.999 D N 0.559 5.526 0.297 3.700 0.986 0.516 0.547 0.573 0.586 . 1.240 1.240 5.275 0.395 0.333 0.999 0.963 0.855 922 Protein_kinase_domain . . . TSSK1B 265 0 252 19 0.0701107011070111 TRUE NA ENSG00000134516.18 . BCM GRCh38.p13 chr5 170079066 170079066 + C C T Missense_Mutation SNP ENST00000520908.7 exon49 c.C5086T p.R1696W exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon49:c.C5086T:p.R1696W 5q35.1 C3N-02589 . . . . . . . . rs980056604 14.20 D D D D D D M T D 0.475 T T D 0.115 0.272 0.538 1.469 T D T T D D 4.170 28.400 0.999 D D 0.337 3.976 0.309 3.770 0.944 0.672 0.702 0.653 0.586 . 4.810 2.860 2.630 1.026 0.599 1.000 0.999 0.982 931 . . . ID=COSV56944050;OCCURENCE=2(large_intestine),1(stomach),1(kidney),4(pancreas) DOCK2 326 0 346 22 0.0597826086956522 TRUE TRUE ENSG00000137414.6 . BCM GRCh38.p13 chr6 17600999 17600999 + C C T Missense_Mutation SNP ENST00000259963.4 exon1 c.C590T p.A197V exonic ENSG00000137414.6 . nonsynonymous SNV ENSG00000137414.6:ENST00000259963.4:exon1:c.C590T:p.A197V 6p22.3 C3N-02589 0.0006 0.0003 0 0 0 3.948e-05 0 0.0024 rs544019346 3.18 T T B B N D L . N 0.270 T T D 0.052 0.163 0.157 0.316 T . T T T T 0.932 10.780 0.989 D N -0.490 1.197 -0.428 1.322 1.000 0.267 0.484 0.520 0.373 . 4.390 4.390 0.918 1.026 0.549 0.012 0.002 0.034 599 . . . . FAM8A1 360 0 367 35 0.0870646766169154 TRUE NA ENSG00000146221.10 . BCM GRCh38.p13 chr6 44286353 44286353 + G G A Missense_Mutation SNP ENST00000371505.5 exon3 c.C457T p.R153C exonic ENSG00000146221.10 . nonsynonymous SNV ENSG00000146221.10:ENST00000371505.5:exon3:c.C457T:p.R153C 6p21.1 C3N-02589 2.484e-05 9.743e-05 0 0 0 1.509e-05 0 6.056e-05 rs750220971 10.19 D D D P D D . T D 0.400 T T D 0.325 0.511 0.444 0.520 T T T T D D 3.989 26.900 0.999 N D 0.642 6.383 0.588 6.072 0.998 0.549 0.590 0.590 0.530 . 4.950 4.950 2.616 0.224 0.676 1.000 0.991 0.876 783 . . . ID=COSV65255298;OCCURENCE=1(oesophagus),1(pancreas) TCTE1 177 0 183 25 0.120192307692308 TRUE TRUE ENSG00000078053.17 . BCM GRCh38.p13 chr7 38394109 38394109 + C C T Missense_Mutation SNP ENST00000356264.7 exon18 c.G1504A p.G502R exonic ENSG00000078053.17 . nonsynonymous SNV ENSG00000078053.17:ENST00000356264.7:exon18:c.G1504A:p.G502R 7p14.1 C3N-02589 2.471e-05 0 8.637e-05 0.0002 0 0 0 0 rs759265550 2.20 D T P B N N M T N 0.320 T T T 0.132 0.174 0.807 0.226 T T T T T T 1.601 16.380 0.987 N N -0.256 1.725 -0.297 1.569 1.000 0.706 0.618 0.659 0.613 . 5.660 4.780 2.041 -0.289 -0.173 0.004 0.000 0.005 856 . . . ID=COSV57754878;OCCURENCE=1(lung) AMPH 474 0 438 43 0.0893970893970894 TRUE TRUE ENSG00000182348.7 . BCM GRCh38.p13 chr7 89333668 89333668 + T T C Missense_Mutation SNP ENST00000333190.5 exon4 c.T686C p.L229P exonic ENSG00000182348.7 . nonsynonymous SNV ENSG00000182348.7:ENST00000333190.5:exon4:c.T686C:p.L229P 7q21.13 C3N-02589 . . . . . . . . . 10.20 D D D D N D M T D 0.787 T T T 0.206 0.524 0.283 0.315 T T T T D T 3.969 26.800 0.999 D D 0.620 6.131 0.609 6.339 0.031 0.487 0.574 0.574 0.564 . 5.040 5.040 5.374 1.138 0.665 1.000 1.000 0.998 911 . . . . ZNF804B 142 0 172 17 0.0899470899470899 TRUE TRUE ENSG00000130226.17 . BCM GRCh38.p13 chr7 154892346 154892346 + G G A Missense_Mutation SNP ENST00000377770.8 exon26 c.G2464A p.E822K exonic ENSG00000130226.17 . nonsynonymous SNV ENSG00000130226.17:ENST00000377770.8:exon26:c.G2464A:p.E822K 7q36.2 C3N-02589 . . . . . . . . . 10.19 D D D D D D L T D 0.510 T T T 0.283 0.860 0.093 0.809 T T T T D . 3.703 25.400 0.999 D D 0.451 4.674 0.392 4.302 0.995 0.646 0.574 0.645 0.613 . 4.660 4.660 7.324 1.176 0.676 1.000 0.229 0.225 958 Peptidase_S9,_prolyl_oligopeptidase,_catalytic_domain . . ID=COSV59640763;OCCURENCE=1(skin) DPP6 162 0 178 11 0.0582010582010582 TRUE TRUE ENSG00000147485.13 . BCM GRCh38.p13 chr8 51408790 51408790 + G G A Missense_Mutation SNP ENST00000356297.5 exon17 c.C2834T p.A945V exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon17:c.C2834T:p.A945V 8q11.22 C3N-02589 . . . . . . . . . 1.20 T T B B U N N T N 0.065 T T T 0.150 0.433 0.349 0.143 T T T T T D 0.918 10.630 0.974 N N -0.721 0.778 -0.758 0.817 0.056 0.581 0.574 0.576 0.564 . 3.800 2.910 1.241 -0.861 -0.114 0.722 0.000 0.000 895 Peroxidasin,_peroxidase_domain . . ID=COSV62478104;OCCURENCE=1(oesophagus),3(meninges),3(large_intestine),1(stomach),1(lung) PXDNL 78 0 86 6 0.0652173913043478 TRUE TRUE ENSG00000151208.17 . BCM GRCh38.p13 chr10 77821473 77821473 + G G A Missense_Mutation SNP ENST00000372391.7 exon15 c.C3011T p.S1004F exonic ENSG00000151208.17 . nonsynonymous SNV ENSG00000151208.17:ENST00000372391.7:exon15:c.C3011T:p.S1004F 10q22.3 C3N-02589 . . . . . . . . . 10.19 D D D P N D M T D 0.711 T T T 0.240 0.140 0.437 0.575 T D T T D . 3.654 25.200 0.998 D D 0.676 6.799 0.708 7.905 1.000 0.732 0.709 0.744 0.728 . 5.870 5.870 6.327 1.176 0.676 1.000 0.998 0.702 645 . . . . DLG5 294 0 310 31 0.0909090909090909 TRUE TRUE ENSG00000181761.5 . BCM GRCh38.p13 chr11 56122826 56122826 + G G C Missense_Mutation SNP ENST00000313472.3 exon1 c.G454C p.G152R exonic ENSG00000181761.5 . nonsynonymous SNV ENSG00000181761.5:ENST00000313472.3:exon1:c.G454C:p.G152R 11q12.1 C3N-02589 . . . . . . . . . 7.20 D D P P D N M T D 0.595 T T T 0.152 0.777 0.626 0.251 T T T T D D 1.912 18.580 0.997 N N -0.071 2.268 -0.354 1.456 0.002 0.487 0.574 0.574 0.564 . 3.620 2.690 0.830 -0.045 0.329 0.005 0.003 0.059 156 GPCR,_rhodopsin-like,_7TM . . . OR8H3 182 0 222 20 0.0826446280991736 NA TRUE ENSG00000130037.5 . BCM GRCh38.p13 chr12 5044875 5044875 + C C T Missense_Mutation SNP ENST00000252321.5 exon1 c.C728T p.P243L exonic ENSG00000130037.5 . nonsynonymous SNV ENSG00000130037.5:ENST00000252321.5:exon1:c.C728T:p.P243L 12p13.32 C3N-02589 2.473e-05 9.623e-05 0 0.0002 0 0 0 0 rs767170268 17.20 D D D D U D M T D 0.924 D D D 0.771 0.759 0.970 1.480 T D D D D D 3.313 24.200 0.999 D D 0.966 12.876 0.847 11.658 1.000 0.598 0.563 0.596 0.542 . 4.770 4.770 7.847 0.962 0.524 1.000 0.915 0.210 680 . . . ID=COSV52908801;OCCURENCE=1(prostate) KCNA5 562 0 502 60 0.106761565836299 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-02589 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 262 0 296 29 0.0892307692307692 TRUE TRUE ENSG00000205420.11 . BCM GRCh38.p13 chr12 52493076 52493076 + A A C Missense_Mutation SNP ENST00000330722.7 exon1 c.T113G p.V38G exonic ENSG00000205420.11 . nonsynonymous SNV ENSG00000205420.11:ENST00000330722.7:exon1:c.T113G:p.V38G 12q13.13 C3N-02589 . . . . . . . . . 9.20 D T P B D D M T D 0.386 T T D 0.333 0.400 0.782 2.041 T D T T D T 2.583 22.600 0.960 D N 0.001 2.516 0.094 2.710 1.000 0.497 0.590 0.547 0.542 . 5.240 5.240 1.441 1.312 0.756 0.966 0.842 0.522 769 Keratin_type_II_head . . . KRT6A 1004 0 887 101 0.102226720647773 NA TRUE ENSG00000089225.20 . BCM GRCh38.p13 chr12 114356025 114356025 + C C T Missense_Mutation SNP ENST00000405440.7 exon9 c.G1064A p.R355H exonic ENSG00000089225.20 . nonsynonymous SNV ENSG00000089225.20:ENST00000405440.7:exon9:c.G1064A:p.R355H 12q24.21 C3N-02589 8.237e-06 9.612e-05 0 0 0 0 0 0 rs145784562 7.20 T T B B N D M T N 0.775 T T D 0.182 . 0.805 0.175 T T T T D D 2.696 22.800 0.999 D D 0.235 3.463 0.353 4.038 1.000 0.520 0.616 0.441 0.564 . 5.270 5.270 7.568 1.026 0.599 1.000 0.779 0.922 946 . . . ID=COSV59858803;OCCURENCE=1(large_intestine) TBX5 482 0 496 51 0.093235831809872 TRUE TRUE ENSG00000189167.12 . BCM GRCh38.p13 chr13 32311490 32311490 + G G A Missense_Mutation SNP ENST00000533490.7 exon3 c.C436T p.R146W exonic ENSG00000189167.12 . nonsynonymous SNV ENSG00000189167.12:ENST00000533490.7:exon3:c.C436T:p.R146W 13q13.1 C3N-02589 . . . . . . . . . 3.19 D D B B N N M . N 0.107 T T T 0.027 0.401 0.122 . T T T T T T 1.270 14.170 0.992 N N -0.967 0.440 -1.033 0.449 1.000 0.578 0.547 0.608 0.613 . 4.740 -0.895 1.470 0.189 0.674 0.006 0.000 0.006 868 . . . ID=COSV61525160;OCCURENCE=1(large_intestine) ZAR1L 207 0 173 20 0.103626943005181 TRUE TRUE ENSG00000150893.11 . BCM GRCh38.p13 chr13 38687598 38687598 + G G A Missense_Mutation SNP ENST00000280481.9 exon1 c.G254A p.R85H exonic ENSG00000150893.11 . nonsynonymous SNV ENSG00000150893.11:ENST00000280481.9:exon1:c.G254A:p.R85H 13q13.3 C3N-02589 . . . . . . . . . 10.15 D D . . D D . T D 0.397 T T D 0.443 0.509 0.688 0.629 T . D T D . 4.564 32 1.000 D D 0.890 10.793 0.876 12.762 1.000 0.598 0.596 0.520 0.639 . 5.460 5.460 7.860 1.176 0.671 1.000 0.998 0.999 938 . . . . FREM2 72 0 73 4 0.051948051948052 TRUE NA ENSG00000187498.16 . BCM GRCh38.p13 chr13 110150403 110150403 + G G A Missense_Mutation SNP ENST00000375820.10 exon52 c.C4970T p.T1657M exonic ENSG00000187498.16 . nonsynonymous SNV ENSG00000187498.16:ENST00000375820.10:exon52:c.C4970T:p.T1657M 13q34 C3N-02589 3.41e-05 0 8.956e-05 0 0 4.621e-05 0 0 rs779139113 17.20 D D D P N D M D D 0.359 D D D 0.671 0.559 0.830 0.399 T D D D D D 4.061 27.400 0.997 D D 0.510 5.112 0.438 4.641 1.000 0.706 0.563 0.710 0.711 . 5.080 4.220 9.539 1.176 0.676 1.000 0.605 0.891 994 Collagen_IV,_non-collagenous . . ID=COSV65427289;OCCURENCE=1(small_intestine) COL4A1 562 1 576 39 0.0634146341463415 TRUE TRUE ENSG00000188869.13 . BCM GRCh38.p13 chr15 81359454 81359454 + C C T Missense_Mutation SNP ENST00000359440.6 exon5 c.G412A p.V138I exonic ENSG00000188869.13 . nonsynonymous SNV ENSG00000188869.13:ENST00000359440.6:exon5:c.G412A:p.V138I 15q25.1 C3N-02589 3.238e-05 0.0002 0 0.0002 0 0 0 0 rs201479309 11.20 D D D D D D M T N 0.759 T T D 0.230 . 0.374 0.578 T T T T T D 3.433 24.500 0.998 D D 0.663 6.638 0.642 6.794 1.000 0.487 0.590 0.574 0.542 . 5.950 5.950 7.114 1.026 0.599 1.000 0.915 0.980 934 . . . . TMC3 155 0 170 10 0.0555555555555556 TRUE NA ENSG00000196557.13 . BCM GRCh38.p13 chr16 1200269 1200269 + A A G Missense_Mutation SNP ENST00000348261.11 exon7 c.A817G p.T273A exonic ENSG00000196557.13 . nonsynonymous SNV ENSG00000196557.13:ENST00000348261.11:exon7:c.A817G:p.T273A 16p13.3 C3N-02589 . . . . . . . . . 7.20 T T P B N N L D N 0.436 D D D 0.389 0.523 0.901 . T T D T T T 2.503 22.400 0.674 D D 0.058 2.723 0.152 2.958 1.000 0.718 0.627 0.571 0.563 . 4.400 4.400 4.936 1.207 0.682 1.000 0.983 0.944 940 Ion_transport_domain . . . CACNA1H 107 0 141 12 0.0784313725490196 TRUE TRUE ENSG00000008516.17 . BCM GRCh38.p13 chr16 3057382 3057382 + C C T Missense_Mutation SNP ENST00000336577.9 exon6 c.C911T p.S304L exonic ENSG00000008516.17 . nonsynonymous SNV ENSG00000008516.17:ENST00000336577.9:exon6:c.C911T:p.S304L 16p13.3 C3N-02589 7.51e-05 0 0 0.0001 0 0.0001 0 0 rs370333247 0.20 T T B B N N N T N 0.085 T T T 0.016 . 0.088 0.131 T T T T T T 0.643 7.922 0.399 N N -1.391 0.121 -1.409 0.147 1.000 0.635 0.634 0.644 0.528 . 4.470 -3.690 -0.220 -0.318 -0.339 0.001 0.000 0.000 794 . . . ID=COSV60678562;OCCURENCE=1(central_nervous_system),1(NS) MMP25 138 0 148 24 0.13953488372093 TRUE TRUE ENSG00000074755.15 . BCM GRCh38.p13 chr17 4102350 4102350 + C C T Missense_Mutation SNP ENST00000381638.7 exon9 c.G1639A p.E547K exonic ENSG00000074755.15 . nonsynonymous SNV ENSG00000074755.15:ENST00000381638.7:exon9:c.G1639A:p.E547K 17p13.2 C3N-02589 8.24e-06 0 0 0 0 1.499e-05 0 0 rs748685711 13.20 D D D D D D L T N 0.796 T T D 0.209 0.249 0.068 0.694 T T D D D D 4.124 28.000 0.999 D D 0.692 7.002 0.724 8.232 1.000 0.722 0.586 0.651 0.735 . 5.710 5.710 7.138 1.026 0.599 1.000 0.975 0.971 270 . . . . ZZEF1 150 0 178 19 0.0964467005076142 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675161 7675161 + G G T Missense_Mutation SNP ENST00000269305.8 exon5 c.C451A p.P151T exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C451A:p.P151T 17p13.1 C3N-02589 . . . . . . . . rs28934874 19.20 D D D D D D M D D 0.920 D D D 0.911 0.959 0.977 1.736 T D D D D D 3.466 24.600 0.997 D D 0.748 7.848 0.676 7.333 1.000 0.722 0.698 0.698 0.735 . 5.590 5.590 8.002 1.176 0.676 1.000 0.189 0.692 434 p53,_DNA-binding_domain . . ID=COSV52676321;OCCURENCE=2(breast),1(genital_tract),2(oesophagus),5(large_intestine),1(central_nervous_system),4(ovary),5(stomach),2(urinary_tract),2(pancreas),2(lung),1(thyroid),2(upper_aerodigestive_tract) TP53 242 0 212 27 0.112970711297071 TRUE TRUE ENSG00000136492.9 . BCM GRCh38.p13 chr17 61780893 61780893 + G G A Nonsense_Mutation SNP ENST00000259008.7 exon12 c.C1741T p.R581X exonic ENSG00000136492.9 . stopgain ENSG00000136492.9:ENST00000259008.7:exon12:c.C1741T:p.R581X 17q23.2 C3N-02589 8.238e-06 0 0 0.0001 0 0 0 0 rs780020495 4.6 . . . . N A . . . 0.905 . . . . . . . . . D D . . 6.545 36 0.997 D N 0.724 7.475 0.508 5.232 0.000 0.615 0.634 0.659 0.655 . 5.250 1.640 0.936 0.186 0.676 0.919 0.996 0.999 54 . . . ID=COSV99370649;OCCURENCE=1(stomach),1(skin),1(prostate) BRIP1 290 0 290 27 0.0851735015772871 TRUE NA ENSG00000154655.15 . BCM GRCh38.p13 chr18 6241432 6241432 + A A T Missense_Mutation SNP ENST00000400105.6 exon8 c.T478A p.F160I exonic ENSG00000154655.15 . nonsynonymous SNV ENSG00000154655.15:ENST00000400105.6:exon8:c.T478A:p.F160I 18p11.31 C3N-02589 . . . . . . . . . 7.20 D D P B N D M T D 0.290 T T T 0.195 0.738 0.612 . T T T T D T 2.851 23.100 0.970 D N 0.171 3.178 0.143 2.916 0.000 0.638 0.670 0.602 0.564 . 5.450 1.410 3.301 1.288 0.691 1.000 0.998 0.979 933 . . . . L3MBTL4 121 1 150 9 0.0566037735849057 TRUE TRUE ENSG00000180777.14 . BCM GRCh38.p13 chr18 14797785 14797785 + A A T Missense_Mutation SNP ENST00000358984.9 exon20 c.A1960T p.T654S exonic ENSG00000180777.14 . nonsynonymous SNV ENSG00000180777.14:ENST00000358984.9:exon20:c.A1960T:p.T654S 18p11.21 C3N-02589 . . . . . . . . . 1.17 T T . . . N N T N 0.035 T T T 0.037 0.140 0.153 0.029 D T T T T T 0.188 2.983 0.578 N N -0.566 1.050 -0.864 0.669 0.000 0.487 0.574 0.574 0.564 . 0.920 -0.320 -0.615 -1.181 0.263 0.034 0.000 0.004 923 . . . . ANKRD30B 168 0 176 13 0.0687830687830688 NA TRUE ENSG00000198551.10 . BCM GRCh38.p13 chr19 11614884 11614884 + T T C Missense_Mutation SNP ENST00000361113.10 exon3 c.T188C p.I63T exonic ENSG00000198551.10 . nonsynonymous SNV ENSG00000198551.10:ENST00000361113.10:exon3:c.T188C:p.I63T 19p13.2 C3N-02589 . . . . . . . . . 0.19 T T B B . N N T N 0.064 T T T 0.019 0.329 0.014 0.305 T T T T T T 0.496 6.464 0.453 N N -1.645 0.046 -1.724 0.046 0.000 0.563 0.546 0.609 0.636 . 1.840 -2.170 0.034 -0.663 -1.062 0.004 0.020 0.175 798 Krueppel-associated_box . . . ZNF627 131 0 165 12 0.0677966101694915 TRUE TRUE ENSG00000161681.15 . BCM GRCh38.p13 chr19 50662231 50662231 + G G A Missense_Mutation SNP ENST00000293441.5 exon23 c.C6220T p.R2074C exonic ENSG00000161681.15 . nonsynonymous SNV ENSG00000161681.15:ENST00000293441.5:exon23:c.C6220T:p.R2074C 19q13.33 C3N-02589 6.919e-05 0 0 0.0004 0 4.701e-05 0 0.0001 rs549670535 12.20 D D D D U D L T D 0.653 T T D 0.206 . 0.551 0.916 D D T T T D 4.329 29.800 0.985 D D 0.438 4.585 0.379 4.210 1.000 0.516 0.547 0.576 0.586 . 3.550 3.550 5.467 1.164 0.654 1.000 0.910 0.906 861 . . . ID=COSV53263287;OCCURENCE=1(stomach),1(prostate) SHANK1 102 0 100 17 0.145299145299145 TRUE NA ENSG00000242019.1 . BCM GRCh38.p13 chr19 54727752 54727752 + G G A Missense_Mutation SNP ENST00000291860.1 exon4 c.G497A p.R166H exonic ENSG00000242019.1 . nonsynonymous SNV ENSG00000242019.1:ENST00000291860.1:exon4:c.G497A:p.R166H 19q13.42 C3N-02589 2.253e-05 0 0 0 0 3.967e-05 0 0 rs201591361 0.14 T T . . . N . T N 0.030 T T T 0.010 . 0.043 2.110 T . T T T . -0.329 0.270 0.471 N N -1.650 0.045 -1.702 0.051 0.000 0.487 0.574 0.574 0.564 . 1.200 -0.022 -0.798 0.012 -0.349 0.000 0.000 0.000 952 Immunoglobulin_subtype . . ID=COSV52549600;OCCURENCE=1(large_intestine),1(lung) KIR3DL3 423 0 442 36 0.0753138075313808 TRUE NA ENSG00000198131.14 . BCM GRCh38.p13 chr19 58261747 58261747 + G G A Missense_Mutation SNP ENST00000269829.5 exon4 c.G1141A p.E381K exonic ENSG00000198131.14 . nonsynonymous SNV ENSG00000198131.14:ENST00000269829.5:exon4:c.G1141A:p.E381K 19q13.43 C3N-02589 8.238e-06 0 8.64e-05 0 0 0 0 0 rs756389353 1.19 T T P B . N N T D 0.132 T T T 0.051 0.369 0.234 0.104 T T T T T T 1.161 13.320 0.995 N N -0.983 0.422 -1.035 0.446 0.052 0.672 0.702 0.702 0.742 . 2.900 0.492 -1.530 0.163 0.597 0.000 0.881 0.984 964 Zinc_finger_C2H2-type . . . ZNF544 225 0 233 17 0.068 TRUE TRUE ENSG00000101346.14 . BCM GRCh38.p13 chr20 32215323 32215323 + C C T Missense_Mutation SNP ENST00000375749.8 exon3 c.C301T p.R101W exonic ENSG00000101346.14 . nonsynonymous SNV ENSG00000101346.14:ENST00000375749.8:exon3:c.C301T:p.R101W 20q11.21 C3N-02589 1.648e-05 0 8.639e-05 0 0 1.499e-05 0 0 rs770978581 15.20 D D D D D D M T D 0.945 T T D 0.485 0.718 0.423 0.721 T T D D D D 3.968 26.800 0.999 D D 0.656 6.549 0.571 5.875 1.000 0.732 0.725 0.744 0.714 . 5.640 3.650 4.582 -0.244 -0.189 1.000 0.995 0.983 352 . . . ID=COSV65260262;OCCURENCE=1(central_nervous_system) POFUT1 113 0 123 11 0.082089552238806 TRUE TRUE ENSG00000177138.17 . BCM GRCh38.p13 chrX 9027885 9027885 + G G A Missense_Mutation SNP ENST00000327220.10 exon7 c.C475T p.R159C exonic ENSG00000177138.17 . nonsynonymous SNV ENSG00000177138.17:ENST00000327220.10:exon7:c.C475T:p.R159C Xp22.31 C3N-02589 5.705e-05 0 0 0 0 4.173e-05 0 0.0003 rs201073413 3.17 T D D D . N N . N 0.179 T T T 0.098 . 0.376 0.387 T T T T T T 2.012 19.350 0.991 N . . . . . 0.235 . . . . . 1.310 -0.848 0.535 0.447 0.373 0.446 0.002 0.027 987 XLR/SYCP3/FAM9_domain . . . FAM9B 108 0 150 29 0.162011173184358 TRUE NA ENSG00000142583.18 . BCM GRCh38.p13 chr1 9039591 9039591 + G G A Silent SNP ENST00000377424.9 exon8 c.C957T p.A319A exonic ENSG00000142583.18 . synonymous SNV ENSG00000142583.18:ENST00000377424.9:exon8:c.C957T:p.A319A 1p36.23 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66237760;OCCURENCE=1(prostate) SLC2A5 98 0 104 11 0.0956521739130435 TRUE TRUE ENSG00000143001.5 . BCM GRCh38.p13 chr1 54986243 54986243 + G G A Silent SNP ENST00000371268.4 exon2 c.G162A p.T54T exonic ENSG00000143001.5 . synonymous SNV ENSG00000143001.5:ENST00000371268.4:exon2:c.G162A:p.T54T 1p32.3 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100987742;OCCURENCE=1(endometrium) TMEM61 254 0 277 28 0.0918032786885246 TRUE NA ENSG00000185842.15 . BCM GRCh38.p13 chr1 225152862 225152862 + G G A Silent SNP ENST00000445597.6 exon20 c.G3894A p.A1298A exonic ENSG00000185842.15 . synonymous SNV ENSG00000185842.15:ENST00000445597.6:exon20:c.G3894A:p.A1298A 1q42.12 C3N-02589 0.0004 0.0028 0.0025 0 0 0.0002 0 0 rs139949596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH14 207 0 250 19 0.0706319702602231 TRUE NA ENSG00000135766.9 . BCM GRCh38.p13 chr1 231421025 231421025 + G G T Silent SNP ENST00000366641.4 exon1 c.C864A p.G288G exonic ENSG00000135766.9 . synonymous SNV ENSG00000135766.9:ENST00000366641.4:exon1:c.C864A:p.G288G 1q42.2 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EGLN1 510 0 527 97 0.155448717948718 TRUE TRUE ENSG00000196539.3 . BCM GRCh38.p13 chr1 248474121 248474121 + C C T Silent SNP ENST00000359594.3 exon1 c.C771T p.F257F exonic ENSG00000196539.3 . synonymous SNV ENSG00000196539.3:ENST00000359594.3:exon1:c.C771T:p.F257F 1q44 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62081928;OCCURENCE=1(central_nervous_system) OR2T3 342 1 416 23 0.0523917995444191 NA TRUE ENSG00000074047.21 . BCM GRCh38.p13 chr2 120988905 120988905 + G G A Silent SNP ENST00000452319.5 exon14 c.G2991A p.P997P exonic ENSG00000074047.21 . synonymous SNV ENSG00000074047.21:ENST00000452319.5:exon14:c.G2991A:p.P997P 2q14.2 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLI2 512 0 471 47 0.0907335907335907 TRUE TRUE ENSG00000168702.18 . BCM GRCh38.p13 chr2 141062243 141062243 + G G A Silent SNP ENST00000389484.8 exon8 c.C1044T p.V348V exonic ENSG00000168702.18 . synonymous SNV ENSG00000168702.18:ENST00000389484.8:exon8:c.C1044T:p.V348V 2q22.1 C3N-02589 3.332e-05 9.645e-05 8.809e-05 0 0 0 0 0.0001 rs200690342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67230631;OCCURENCE=2(large_intestine) LRP1B 93 0 122 15 0.109489051094891 TRUE TRUE ENSG00000138795.10 . BCM GRCh38.p13 chr4 108083415 108083415 + G G A Silent SNP ENST00000265165.6 exon5 c.C579T p.I193I exonic ENSG00000138795.10 . synonymous SNV ENSG00000138795.10:ENST00000265165.6:exon5:c.C579T:p.I193I 4q25 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LEF1 202 0 180 25 0.121951219512195 TRUE TRUE ENSG00000204310.13 . BCM GRCh38.p13 chr6 32169411 32169411 + C C T Silent SNP ENST00000375107.8 exon7 c.G717A p.T239T exonic ENSG00000204310.13 . synonymous SNV ENSG00000204310.13:ENST00000375107.8:exon7:c.G717A:p.T239T 6p21.32 C3N-02589 . . . . . . . . rs937993066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61247738;OCCURENCE=1(large_intestine) AGPAT1 204 0 246 24 0.0888888888888889 TRUE TRUE ENSG00000204267.16 . BCM GRCh38.p13 chr6 32835232 32835232 + C C T Silent SNP ENST00000374897.4 exon5 c.G867A p.S289S exonic ENSG00000204267.16;ENSG00000250264.1 . synonymous SNV ENSG00000204267.16:ENST00000374897.4:exon5:c.G867A:p.S289S,ENSG00000250264.1:ENST00000452392.2:exon5:c.G867A:p.S289S 6p21.32 C3N-02589 8.606e-06 0 0 0 0 1.579e-05 0 0 rs775338272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66499058;OCCURENCE=1(large_intestine),1(endometrium) TAP2 691 0 750 74 0.0898058252427184 TRUE TRUE ENSG00000272391.6 . BCM GRCh38.p13 chr7 75441551 75441551 + T T C Silent SNP ENST00000607367.5 exon2 c.A672G p.T224T exonic ENSG00000272391.6 . synonymous SNV ENSG00000272391.6:ENST00000607367.5:exon2:c.A672G:p.T224T 7q11.23 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POM121C 412 0 411 33 0.0743243243243243 NA TRUE ENSG00000155926.14 . BCM GRCh38.p13 chr8 133060131 133060131 + C C T Silent SNP ENST00000338087.10 exon3 c.G30A p.A10A exonic ENSG00000155926.14 . synonymous SNV ENSG00000155926.14:ENST00000338087.10:exon3:c.G30A:p.A10A 8q24.22 C3N-02589 0.0001 9.61e-05 8.637e-05 0.0003 0 4.504e-05 0 0.0004 rs202000953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99598584;OCCURENCE=1(central_nervous_system) SLA 112 0 111 13 0.104838709677419 TRUE NA ENSG00000165124.18 . BCM GRCh38.p13 chr9 110427725 110427725 + A A G Silent SNP ENST00000374469.6 exon36 c.T5841C p.A1947A exonic ENSG00000165124.18 . synonymous SNV ENSG00000165124.18:ENST00000374469.6:exon36:c.T5841C:p.A1947A 9q31.3 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SVEP1 136 0 161 9 0.0529411764705882 TRUE TRUE ENSG00000136866.13 . BCM GRCh38.p13 chr9 113043631 113043631 + G G C Silent SNP ENST00000374227.7 exon4 c.C987G p.A329A exonic ENSG00000136866.13 . synonymous SNV ENSG00000136866.13:ENST00000374227.7:exon4:c.C987G:p.A329A 9q32 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFP37 163 0 196 19 0.0883720930232558 TRUE TRUE ENSG00000148357.16 . BCM GRCh38.p13 chr9 130354932 130354932 + C C T Silent SNP ENST00000624552.3 exon32 c.C5031T p.D1677D exonic ENSG00000148357.16 . synonymous SNV ENSG00000148357.16:ENST00000624552.3:exon32:c.C5031T:p.D1677D 9q34.11 C3N-02589 0.0030 0.0013 0 0 0 0.0021 0.0066 0.0041 rs142117460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMCN2 343 0 345 30 0.08 TRUE NA ENSG00000110675.13 . BCM GRCh38.p13 chr11 107665152 107665152 + G G A Silent SNP ENST00000265840.12 exon12 c.G960A p.A320A exonic ENSG00000110675.13 . synonymous SNV ENSG00000110675.13:ENST00000265840.12:exon12:c.G960A:p.A320A 11q22.3 C3N-02589 2.485e-05 0 0 0 0 2.998e-05 0 6.057e-05 rs764635964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56192809;OCCURENCE=3(stomach),1(soft_tissue),2(pancreas) ELMOD1 185 0 187 11 0.0555555555555556 TRUE TRUE ENSG00000149305.7 . BCM GRCh38.p13 chr11 113932997 113932997 + G G A Silent SNP ENST00000260191.7 exon6 c.G600A p.A200A exonic ENSG00000149305.7 . synonymous SNV ENSG00000149305.7:ENST00000260191.7:exon6:c.G600A:p.A200A 11q23.2 C3N-02589 9.066e-05 0.0002 8.645e-05 0.0001 0 2.999e-05 0 0.0003 rs117682771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HTR3B 185 1 219 14 0.0600858369098712 TRUE NA ENSG00000177990.12 . BCM GRCh38.p13 chr12 63624045 63624045 + A A T Silent SNP ENST00000324472.9 exon8 c.T948A p.I316I exonic ENSG00000177990.12 . synonymous SNV ENSG00000177990.12:ENST00000324472.9:exon8:c.T948A:p.I316I 12q14.2 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPY19L2 213 0 197 28 0.124444444444444 NA TRUE ENSG00000092098.17 . BCM GRCh38.p13 chr14 24159871 24159871 + C C T Silent SNP ENST00000324103.11 exon19 c.C2907T p.C969C exonic ENSG00000092098.17;ENSG00000259529.2 . synonymous SNV ENSG00000092098.17:ENST00000324103.11:exon19:c.C2907T:p.C969C,ENSG00000259529.2:ENST00000558468.2:exon19:c.C2907T:p.C969C 14q12 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF31 60 0 86 9 0.0947368421052632 TRUE TRUE ENSG00000184304.16 . BCM GRCh38.p13 chr14 29577355 29577355 + G G A Silent SNP ENST00000331968.11 exon18 c.C2622T p.G874G exonic ENSG00000184304.16 . synonymous SNV ENSG00000184304.16:ENST00000331968.11:exon18:c.C2622T:p.G874G 14q12 C3N-02589 1.649e-05 0 0 0.0001 0 1.499e-05 0 0 rs767961425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKD1 528 0 569 57 0.0910543130990415 TRUE NA ENSG00000248905.10 . BCM GRCh38.p13 chr15 33154483 33154483 + G G A Silent SNP ENST00000616417.5 exon4 c.C432T p.P144P exonic ENSG00000248905.10 . synonymous SNV ENSG00000248905.10:ENST00000616417.5:exon4:c.C432T:p.P144P 15q13.3 C3N-02589 7.055e-05 0 0 0 0 0 0 0.0001 rs193208337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMN1 279 0 296 32 0.0975609756097561 TRUE NA ENSG00000166813.15 . BCM GRCh38.p13 chr15 89648588 89648588 + G G A Silent SNP ENST00000394412.8 exon5 c.C1110T p.S370S exonic ENSG00000166813.15 . synonymous SNV ENSG00000166813.15:ENST00000394412.8:exon5:c.C1110T:p.S370S 15q26.1 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF7 298 0 261 24 0.0842105263157895 TRUE TRUE ENSG00000140750.17 . BCM GRCh38.p13 chr16 24959914 24959914 + A A T Silent SNP ENST00000289968.11 exon8 c.T639A p.V213V exonic ENSG00000140750.17 . synonymous SNV ENSG00000140750.17:ENST00000289968.11:exon8:c.T639A:p.V213V 16p12.1 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP17 199 0 232 20 0.0793650793650794 TRUE TRUE ENSG00000080603.17 . BCM GRCh38.p13 chr16 30723924 30723924 + G G A Silent SNP ENST00000380361.7 exon20 c.G3969A p.P1323P exonic ENSG00000080603.17;ENSG00000282034.1 . synonymous SNV ENSG00000282034.1:ENST00000380361.7:exon20:c.G3969A:p.P1323P,ENSG00000080603.17:ENST00000262518.9:exon25:c.G4500A:p.P1500P 16p11.2 C3N-02589 1.648e-05 0 0 0 0 2.997e-05 0 0 rs574491718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRCAP 259 0 257 29 0.101398601398601 TRUE NA ENSG00000125651.14 . BCM GRCh38.p13 chr19 6380461 6380461 + G G A Silent SNP ENST00000394456.10 exon13 c.C1374T p.A458A exonic ENSG00000125651.14 . synonymous SNV ENSG00000125651.14:ENST00000394456.10:exon13:c.C1374T:p.A458A 19p13.3 C3N-02589 4.942e-05 0.0002 0 0 0 4.495e-05 0 6.056e-05 rs370032823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55531770;OCCURENCE=1(large_intestine),1(biliary_tract) GTF2F1 395 0 420 50 0.106382978723404 TRUE TRUE ENSG00000161681.15 . BCM GRCh38.p13 chr19 50702522 50702522 + G G A Silent SNP ENST00000293441.5 exon11 c.C1692T p.S564S exonic ENSG00000161681.15 . synonymous SNV ENSG00000161681.15:ENST00000293441.5:exon11:c.C1692T:p.S564S 19q13.33 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHANK1 174 1 176 22 0.111111111111111 TRUE TRUE ENSG00000160224.17 . BCM GRCh38.p13 chr21 44288421 44288421 + C C T Silent SNP ENST00000291582.6 exon5 c.C615T p.A205A exonic ENSG00000160224.17 . synonymous SNV ENSG00000160224.17:ENST00000291582.6:exon5:c.C615T:p.A205A 21q22.3 C3N-02589 6.66e-05 9.771e-05 0 0 0 0.0001 0 0 rs143784684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AIRE 119 0 126 14 0.1 TRUE NA ENSG00000175718.10 . BCM GRCh38.p13 chrX 115190377 115190377 + C C T Silent SNP ENST00000424776.5 exon1 c.C936T p.G312G exonic ENSG00000175718.10 . synonymous SNV ENSG00000175718.10:ENST00000424776.5:exon1:c.C936T:p.G312G Xq23 C3N-02589 0.0002 0.0006 0 0 0 0 0 0.0004 rs782770623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100407533;OCCURENCE=1(endometrium) RBMXL3 56 1 44 5 0.102040816326531 TRUE NA ENSG00000047365.12 . BCM GRCh38.p13 chr4 36260002 36260002 + G G A IGR SNP NA NA NA NA intergenic ENSG00000047365.12;ENSG00000247193.3 dist=15488;dist=11568 . . 4p14 C3N-02589 0 0 0 0 . 0 0 0 rs773777896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARAP2 112 0 134 20 0.12987012987013 TRUE NA ENSG00000234432.4 . BCM GRCh38.p13 chr7 5427976 5427976 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000234432.4 . . . 7p22.1 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092171.3 351 0 332 30 0.0828729281767956 TRUE NA ENSG00000055118.15 . BCM GRCh38.p13 chr7 150949934 150949934 + G G A Intron SNP NA NA NA NA intronic ENSG00000055118.15 . . . 7q36.1 C3N-02589 0.0002 0.0014 0 0 0 0 0 0.0002 rs370393086 4.12 . D . . . N . . . 0.072 D D D 0.318 . 0.043 . . T T T T T 0.318 4.493 0.946 N N -1.012 0.392 -1.074 0.403 1.000 0.560 0.578 0.269 0.563 . 3.130 1.220 0.033 -1.587 -2.391 0.000 0.000 0.001 754 . . . ID=COSV104568874;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) KCNH2 122 0 131 10 0.0709219858156028 TRUE NA ENSG00000166343.10 . BCM GRCh38.p13 chr10 73429624 73429624 + A A T Intron SNP NA NA NA NA intronic ENSG00000166343.10 . . . 10q22.2 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MSS51 172 0 226 15 0.0622406639004149 TRUE NA ENSG00000205494.9 . BCM GRCh38.p13 chr11 5121373 5121373 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000205494.9 . . . 11p15.4 C3N-02589 4.307e-05 9.789e-05 0 0 0 4.601e-05 0 7.559e-05 rs753901401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR52A4P 36 0 49 8 0.140350877192982 TRUE NA ENSG00000237594.2 . BCM GRCh38.p13 chr21 31559394 31559394 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000237594.2 . . . 21q22.11 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP000251.1 40 0 42 6 0.125 TRUE NA ENSG00000223611.5 . BCM GRCh38.p13 chrX 24314119 24314119 + G G A 5'Flank SNP NA NA NA NA upstream ENSG00000223611.5 dist=804 . . Xp22.11 C3N-02589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUPT20HL2 56 0 63 5 0.0735294117647059 TRUE NA ENSG00000049089.15 . BCM GRCh38.p13 chr1 40317194 40317194 + C C T Missense_Mutation SNP ENST00000372748.8 exon1 c.G4A p.A2T exonic ENSG00000049089.15 . nonsynonymous SNV ENSG00000049089.15:ENST00000372748.8:exon1:c.G4A:p.A2T 1p34.2 C3L-03356 . . . . . . . . . 4.20 D T B B N N L D N 0.172 T D D 0.275 0.182 0.694 0.251 T T T T T T 1.793 17.680 0.931 N N -0.590 1.006 -0.494 1.212 1.000 0.658 0.609 0.619 0.555 . 4.110 2.160 -0.650 -0.008 0.462 0.000 0.710 0.629 409 . . . . COL9A2 222 0 585 46 0.0729001584786054 TRUE TRUE ENSG00000150551.11 . BCM GRCh38.p13 chr2 132646233 132646233 + C C T Missense_Mutation SNP ENST00000397463.3 exon3 c.G238A p.A80T exonic ENSG00000150551.11 . nonsynonymous SNV ENSG00000150551.11:ENST00000397463.3:exon3:c.G238A:p.A80T 2q21.2 C3L-03356 . . . . . . . . . 8.20 T T B B D D L D D 0.219 T T D 0.290 0.398 0.822 1.150 T T T T D D 2.335 21.800 0.998 D N -0.019 2.444 0.148 2.939 0.995 0.742 0.574 0.775 0.714 . 5.700 3.750 1.952 1.026 0.599 1.000 0.991 0.991 964 . . . . LYPD1 19 0 50 4 0.0740740740740741 TRUE NA ENSG00000163513.19 . BCM GRCh38.p13 chr3 30644842 30644842 + C C T Nonsense_Mutation SNP ENST00000295754.10 exon2 c.C190T p.Q64X exonic ENSG00000163513.19 . stopgain ENSG00000163513.19:ENST00000295754.10:exon2:c.C190T:p.Q64X 3p24.1 C3L-03356 . . . . . . . . . 4.6 . . . . N A . . . 0.897 . . . . . . . . . D D . . 7.467 38 0.998 D N 0.940 12.122 0.795 9.978 1.000 0.706 0.617 0.710 0.723 . 5.660 4.750 1.685 1.026 0.597 1.000 0.997 0.990 953 Transforming_growth_factor_beta_receptor_2_ectodomain . . . TGFBR2 233 0 464 37 0.0738522954091816 TRUE TRUE ENSG00000113083.14 . BCM GRCh38.p13 chr5 122077670 122077670 + T T G Missense_Mutation SNP ENST00000231004.5 exon1 c.A316C p.T106P exonic ENSG00000113083.14 . nonsynonymous SNV ENSG00000113083.14:ENST00000231004.5:exon1:c.A316C:p.T106P 5q23.1 C3L-03356 0.0001 0 0 0 0 2.516e-05 0 0.0008 rs575026013 2.20 T T B B N N N T N 0.051 T T D 0.016 0.187 0.182 0.692 D T T T T T 0.769 9.092 0.319 N N -1.212 0.219 -1.288 0.217 1.000 0.455 0.609 0.504 0.562 . 3.530 -2.320 -1.246 -0.042 0.557 0.000 0.002 0.013 690 . . . . LOX 155 1 478 36 0.0700389105058366 TRUE NA ENSG00000145861.9 . BCM GRCh38.p13 chr5 160354915 160354915 + G G A Nonsense_Mutation SNP ENST00000652664.2 exon2 c.C97T p.Q33X exonic ENSG00000145861.9 . stopgain ENSG00000145861.9:ENST00000652664.2:exon2:c.C97T:p.Q33X 5q33.3 C3L-03356 . . . . . . . . . 5.6 . . . . D A . . . 0.285 . . . . . . . . . D D . . 7.413 38 0.998 D N 0.790 8.596 0.641 6.779 0.998 0.615 0.574 0.659 0.586 . 5.010 4.040 7.802 1.176 0.618 1.000 0.994 0.813 934 . . . . C1QTNF2 154 0 406 38 0.0855855855855856 TRUE TRUE ENSG00000204704.2 . BCM GRCh38.p13 chr6 29044472 29044472 + C C T Missense_Mutation SNP ENST00000377175.1 exon1 c.G704A p.R235Q exonic ENSG00000204704.2 . nonsynonymous SNV ENSG00000204704.2:ENST00000377175.1:exon1:c.G704A:p.R235Q 6p22.1 C3L-03356 . . . . . . . . rs896592244 0.19 T T B B N N N T N 0.015 T T T 0.037 . 0.030 0.092 T T T T T . 0.016 1.436 0.644 N N -1.442 0.101 -1.445 0.130 0.001 0.487 0.574 0.574 0.564 . 4.790 -0.435 -3.378 -0.857 -0.976 0.000 0.000 0.137 749 GPCR,_rhodopsin-like,_7TM . . ID=COSV65851468;OCCURENCE=5(skin) OR2W1 135 1 264 17 0.0604982206405694 TRUE TRUE ENSG00000164418.20 . BCM GRCh38.p13 chr6 101799762 101799762 + G G A Missense_Mutation SNP ENST00000421544.6 exon10 c.G1066A p.G356R exonic ENSG00000164418.20 . nonsynonymous SNV ENSG00000164418.20:ENST00000421544.6:exon10:c.G1066A:p.G356R 6q16.3 C3L-03356 . . . . . . . . . 20.20 D D D D D D M D D 0.983 D D D 0.952 0.941 0.969 1.160 D D D D D D 4.228 28.900 0.999 D D 1.007 14.138 0.937 15.444 1.000 0.554 0.624 0.602 0.564 . 5.300 5.300 9.602 1.176 0.676 1.000 0.906 0.988 700 Receptor,_ligand_binding_region . . ID=COSV59736816;OCCURENCE=1(large_intestine) GRIK2 176 0 382 28 0.0682926829268293 TRUE TRUE ENSG00000146350.14 . BCM GRCh38.p13 chr6 121279241 121279241 + G G A Missense_Mutation SNP ENST00000398212.7 exon15 c.C1613T p.S538F exonic ENSG00000146350.14 . nonsynonymous SNV ENSG00000146350.14:ENST00000398212.7:exon15:c.C1613T:p.S538F 6q22.31 C3L-03356 . . . . . . . . . 1.19 T T B B N N N T N 0.103 T T T 0.026 0.250 0.178 0.040 . T T T T T 1.839 18.020 0.768 D N -0.413 1.355 -0.274 1.618 0.000 0.554 0.588 0.602 0.621 . 5.490 2.770 1.404 0.227 0.618 0.977 0.998 0.961 766 . . . . TBC1D32 179 0 360 34 0.0862944162436548 TRUE TRUE ENSG00000153956.16 . BCM GRCh38.p13 chr7 82349643 82349643 + T T A Missense_Mutation SNP ENST00000356253.9 exon2 c.A102T p.K34N exonic ENSG00000153956.16 . nonsynonymous SNV ENSG00000153956.16:ENST00000356253.9:exon2:c.A102T:p.K34N 7q21.11 C3L-03356 . . . . . . . . . 8.20 T D B B D D M T N 0.614 T T T 0.095 0.462 0.162 1.922 D T T T D D 2.205 20.900 0.998 D N -0.163 1.983 -0.048 2.203 0.984 0.638 0.574 0.653 0.668 . 6.010 3.110 0.300 -0.272 -0.915 0.997 0.997 0.987 939 . . . ID=COSV62388142;OCCURENCE=1(large_intestine) CACNA2D1 259 0 582 39 0.0628019323671498 TRUE TRUE ENSG00000186472.20 . BCM GRCh38.p13 chr7 82760776 82760776 + C C G Missense_Mutation SNP ENST00000333891.14 exon24 c.G15151C p.V5051L exonic ENSG00000186472.20 . nonsynonymous SNV ENSG00000186472.20:ENST00000333891.14:exon24:c.G15151C:p.V5051L 7q21.11 C3L-03356 . . . . . . . . . 10.16 D D . . U D . T N 0.726 T T D 0.373 0.633 0.522 0.036 D . D T D D 3.794 25.800 0.949 D D 0.919 11.551 0.844 11.568 1.000 0.554 0.588 0.476 0.586 . 5.050 5.050 7.905 1.026 0.549 1.000 0.997 0.999 865 C2_domain . . . PCLO 44 0 95 7 0.0686274509803922 TRUE TRUE ENSG00000136929.13 . BCM GRCh38.p13 chr9 97930187 97930187 + G G A Missense_Mutation SNP ENST00000616898.2 exon3 c.C1208T p.P403L exonic ENSG00000136929.13 . nonsynonymous SNV ENSG00000136929.13:ENST00000616898.2:exon3:c.C1208T:p.P403L 9q22.33 C3L-03356 4.118e-05 0 8.637e-05 0 0 5.993e-05 0 0 rs777811108 3.19 D D B B N N L . D 0.055 T T T 0.028 0.203 0.196 0.054 T T T T T T 0.285 4.119 0.873 N N -1.145 0.269 -1.217 0.269 1.000 0.497 0.547 0.590 0.530 . 4.510 0.183 0.299 -1.387 -0.904 0.039 0.000 0.004 605 . . . . HEMGN 457 0 958 72 0.0699029126213592 TRUE NA ENSG00000188162.11 . BCM GRCh38.p13 chr11 17569207 17569207 + C C T Missense_Mutation SNP ENST00000399391.7 exon15 c.C1732T p.P578S exonic ENSG00000188162.11 . nonsynonymous SNV ENSG00000188162.11:ENST00000399391.7:exon15:c.C1732T:p.P578S 11p15.1 C3L-03356 . . . . . . . . . 3.18 T T . . U D N T N 0.151 T T T 0.071 0.514 0.270 . T T T T D T 2.760 22.900 0.998 D N 0.096 2.870 0.214 3.252 0.656 0.554 0.547 0.602 0.564 . 5.380 5.380 2.250 1.026 0.599 1.000 1.000 0.996 812 von_Willebrand_factor,_type_D_domain . . . OTOG 280 0 605 39 0.0605590062111801 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-03356 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 257 2 477 45 0.0862068965517241 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675224 7675224 + G G C Missense_Mutation SNP ENST00000269305.8 exon5 c.C388G p.L130V exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C388G:p.L130V 17p13.1 C3L-03356 . . . . . . . . rs863224683 19.20 D D D D D D M D D 0.791 D D D 0.887 0.920 0.993 1.665 T D D D D D 3.677 25.300 0.998 D D 0.798 8.739 0.745 8.693 1.000 0.722 0.702 0.698 0.735 . 5.480 5.480 5.793 1.176 0.676 1.000 0.855 0.961 434 p53,_DNA-binding_domain . . ID=COSV52692226;OCCURENCE=5(breast),2(liver),2(oesophagus),7(large_intestine),1(central_nervous_system),3(ovary),2(stomach),6(haematopoietic_and_lymphoid_tissue),2(pancreas),2(lung),2(upper_aerodigestive_tract) TP53 217 0 479 45 0.0858778625954199 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11690172 11690172 + G G T Missense_Mutation SNP ENST00000262442.9 exon20 c.G4350T p.Q1450H exonic ENSG00000007174.18 . nonsynonymous SNV ENSG00000007174.18:ENST00000262442.9:exon20:c.G4350T:p.Q1450H 17p12 C3L-03356 . . . . . . . . . 4.19 D . B B D D L T N 0.423 T T T 0.083 0.780 0.515 0.085 T T T T T T 1.739 17.300 0.973 D N -0.627 0.939 -0.494 1.211 0.000 0.487 0.574 0.574 0.564 . 5.570 -0.501 0.217 0.198 -0.153 0.761 0.996 0.972 883 Dynein_heavy_chain,_domain-2 . . . DNAH9 322 1 712 68 0.0871794871794872 TRUE TRUE ENSG00000141200.8 . BCM GRCh38.p13 chr17 53823115 53823115 + G G C Missense_Mutation SNP ENST00000268919.6 exon1 c.G82C p.E28Q exonic ENSG00000141200.8 . nonsynonymous SNV ENSG00000141200.8:ENST00000268919.6:exon1:c.G82C:p.E28Q 17q22 C3L-03356 . . . . . . . . . 1.20 T T B B N N N T N 0.082 T T T 0.099 0.318 0.574 0.096 T T T T T D 1.599 16.360 0.865 N N -0.887 0.537 -0.863 0.671 0.000 0.487 0.574 0.547 0.564 . 4.960 1.870 1.031 1.176 0.676 0.004 0.059 0.057 895 . . . . KIF2B 237 0 582 39 0.0628019323671498 TRUE TRUE ENSG00000170929.6 . BCM GRCh38.p13 chr19 9094073 9094073 + A A T Missense_Mutation SNP ENST00000641627.1 exon2 c.A829T p.M277L exonic ENSG00000170929.6 . nonsynonymous SNV ENSG00000170929.6:ENST00000641627.1:exon2:c.A829T:p.M277L 19p13.2 C3L-03356 . . . . . . . . . 2.20 T T P P D N N T N 0.165 T T T 0.080 0.565 0.257 0.177 T T T T D T 2.195 20.800 0.962 N N -0.180 1.932 -0.287 1.591 0.000 0.487 0.574 0.574 0.564 . 3.710 2.670 -1.407 0.930 -0.102 0.000 0.235 0.069 970 GPCR,_rhodopsin-like,_7TM . . . OR1M1 311 0 531 36 0.0634920634920635 TRUE NA ENSG00000008441.16 . BCM GRCh38.p13 chr19 13025189 13025189 + G G A Missense_Mutation SNP ENST00000592199.5 exon2 c.G196A p.E66K exonic ENSG00000008441.16 . nonsynonymous SNV ENSG00000008441.16:ENST00000592199.5:exon2:c.G196A:p.E66K 19p13.13 C3L-03356 . . . . . . . . . 17.20 D D D D D D M T D 0.914 T T D 0.543 0.603 0.901 2.649 D D D D D D 4.590 32 0.999 D D 0.883 10.630 0.862 12.226 1.000 0.767 0.627 0.666 0.555 . 5.260 5.260 9.942 1.161 0.676 1.000 0.999 0.998 470 CTF_transcription_factor/nuclear_factor_1,_DNA-binding_domain . . . NFIX 442 0 1183 95 0.0743348982785603 TRUE TRUE ENSG00000197841.15 . BCM GRCh38.p13 chr19 34741197 34741197 + G G C Missense_Mutation SNP ENST00000492450.3 exon4 c.G816C p.K272N exonic ENSG00000197841.15 . nonsynonymous SNV ENSG00000197841.15:ENST00000492450.3:exon4:c.G816C:p.K272N 19q13.11 C3L-03356 . . . . . . . . . 5.19 D D P B . N M T D 0.496 T T T 0.075 0.563 0.550 0.554 T T T T D T 2.686 22.800 0.999 N N 0.024 2.597 -0.076 2.118 0.000 0.732 0.654 0.744 0.636 . 2.890 2.890 0.553 0.993 0.604 0.189 0.988 0.992 382 Zinc_finger_C2H2-type;Zinc_finger,_BED-type . . . ZNF181 208 0 506 29 0.0542056074766355 NA TRUE ENSG00000125503.13 . BCM GRCh38.p13 chr19 55117387 55117387 + C C T Missense_Mutation SNP ENST00000263433.8 exon1 c.G157A p.A53T exonic ENSG00000125503.13 . nonsynonymous SNV ENSG00000125503.13:ENST00000263433.8:exon1:c.G157A:p.A53T 19q13.42 C3L-03356 . . . . . . . . . 9.20 D D D B U D L T D 0.340 T T D 0.180 0.221 0.811 0.326 D T T T T D 3.030 23.500 0.999 D N 0.099 2.884 0.079 2.649 1.000 0.767 0.219 0.851 0.492 . 2.490 2.490 1.182 0.820 0.377 0.675 0.996 0.980 988 . . . . PPP1R12C 15 0 34 3 0.0810810810810811 TRUE NA ENSG00000088836.14 . BCM GRCh38.p13 chr20 3231532 3231532 + G G A Missense_Mutation SNP ENST00000380056.7 exon7 c.C794T p.A265V exonic ENSG00000088836.14 . nonsynonymous SNV ENSG00000088836.14:ENST00000380056.7:exon7:c.C794T:p.A265V 20p13 C3L-03356 2.479e-05 0 8.654e-05 0.0001 0 1.505e-05 0 0 rs771135532 17.20 D D D D D D M T D 0.528 D D D 0.610 0.690 0.948 0.615 T T D D D D 3.149 23.700 0.999 D D 0.496 5.006 0.362 4.102 1.000 0.706 0.588 0.723 0.613 . 5.080 5.080 8.041 1.079 0.672 1.000 0.276 0.498 452 . . . ID=COSV66261411;OCCURENCE=1(oesophagus),1(large_intestine),1(stomach) SLC4A11 248 0 628 44 0.0654761904761905 TRUE TRUE ENSG00000160299.17 . BCM GRCh38.p13 chr21 46363849 46363849 + G G C Missense_Mutation SNP ENST00000359568.10 exon14 c.G2524C p.E842Q exonic ENSG00000160299.17 . nonsynonymous SNV ENSG00000160299.17:ENST00000359568.10:exon14:c.G2524C:p.E842Q 21q22.3 C3L-03356 . . . . . . . . . 7.20 D D D D N N M T N 0.256 T T T 0.094 0.068 0.558 0.322 T T T T D T 3.252 24.000 0.996 D N 0.131 3.012 0.067 2.605 0.643 0.719 0.654 0.723 0.636 . 4.430 3.520 4.168 0.999 0.526 0.989 0.865 0.083 976 . . . ID=COSV64025049;OCCURENCE=1(salivary_gland),1(urinary_tract),3(lung),1(upper_aerodigestive_tract) PCNT 102 0 188 30 0.137614678899083 TRUE TRUE ENSG00000102302.8 . BCM GRCh38.p13 chrX 54455714 54455714 + C C T Missense_Mutation SNP ENST00000375135.4 exon11 c.G1913A p.R638H exonic ENSG00000102302.8 . nonsynonymous SNV ENSG00000102302.8:ENST00000375135.4:exon11:c.G1913A:p.R638H Xp11.22 C3L-03356 . . . . . . . . . 14.19 D D D D N D M T D 0.332 D D D 0.568 0.622 0.886 2.483 T D D T T D 3.769 25.700 1.000 D . . . . . 1.000 . . . . . 5.080 5.080 4.107 1.011 0.581 0.469 1.000 0.999 351 Pleckstrin_homology_domain;FGD1,_N-terminal_PH_domain . . . FGD1 170 0 354 60 0.144927536231884 TRUE NA ENSG00000140107.12 . BCM GRCh38.p13 chr14 100329441 100329441 + C C A Silent SNP ENST00000361529.5 exon6 c.C723A p.I241I exonic ENSG00000140107.12 . synonymous SNV ENSG00000140107.12:ENST00000361529.5:exon6:c.C723A:p.I241I 14q32.2 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A47 216 0 560 48 0.0789473684210526 TRUE TRUE ENSG00000141200.8 . BCM GRCh38.p13 chr17 53823432 53823432 + G G A Silent SNP ENST00000268919.6 exon1 c.G399A p.V133V exonic ENSG00000141200.8 . synonymous SNV ENSG00000141200.8:ENST00000268919.6:exon1:c.G399A:p.V133V 17q22 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF2B 176 1 410 29 0.0660592255125285 TRUE TRUE ENSG00000141200.8 . BCM GRCh38.p13 chr17 53823456 53823456 + G G A Silent SNP ENST00000268919.6 exon1 c.G423A p.L141L exonic ENSG00000141200.8 . synonymous SNV ENSG00000141200.8:ENST00000268919.6:exon1:c.G423A:p.L141L 17q22 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF2B 139 0 345 23 0.0625 TRUE TRUE ENSG00000187775.17 . BCM GRCh38.p13 chr17 78479037 78479037 + G G A Silent SNP ENST00000389840.7 exon51 c.C7980T p.S2660S exonic ENSG00000187775.17 . synonymous SNV ENSG00000187775.17:ENST00000389840.7:exon51:c.C7980T:p.S2660S 17q25.3 C3L-03356 8.491e-06 0.0001 0 0 0 0 0 0 rs574957481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH17 133 0 256 19 0.0690909090909091 TRUE NA ENSG00000134490.14 . BCM GRCh38.p13 chr18 23373760 23373760 + G G T Silent SNP ENST00000383233.8 exon7 c.C387A p.A129A exonic ENSG00000134490.14 . synonymous SNV ENSG00000134490.14:ENST00000383233.8:exon7:c.C387A:p.A129A 18q11.2 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM241 116 1 297 21 0.0660377358490566 TRUE TRUE ENSG00000198796.7 . BCM GRCh38.p13 chr18 58536557 58536557 + G G A Silent SNP ENST00000361673.4 exon5 c.C3630T p.N1210N exonic ENSG00000198796.7 . synonymous SNV ENSG00000198796.7:ENST00000361673.4:exon5:c.C3630T:p.N1210N 18q21.31 C3L-03356 4.12e-05 0.0003 0 0 0 1.499e-05 0 6.058e-05 rs371254825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100864778;OCCURENCE=1(breast) ALPK2 101 0 234 15 0.0602409638554217 TRUE NA ENSG00000196081.10 . BCM GRCh38.p13 chr19 23222406 23222406 + A A T Silent SNP ENST00000418100.6 exon4 c.T1839A p.A613A exonic ENSG00000196081.10 . synonymous SNV ENSG00000196081.10:ENST00000418100.6:exon4:c.T1839A:p.A613A 19p12 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF724 103 0 225 20 0.0816326530612245 TRUE TRUE ENSG00000163702.20 . BCM GRCh38.p13 chr3 9932899 9932899 + G G C Intron SNP NA NA NA NA intronic ENSG00000163702.20;ENSG00000288550.1 . . . 3p25.3 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL17RC 84 0 244 186 0.432558139534884 TRUE NA ENSG00000236939.2 . BCM GRCh38.p13 chr8 103133109 103133109 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000236939.2 . . . 8q22.3 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAALC-AS2 270 0 697 61 0.0804749340369393 TRUE NA ENSG00000280287.1 . BCM GRCh38.p13 chr12 132551335 132551335 + T T G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000280287.1 . . . 12q24.33 C3L-03356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC131212.3 77 0 219 19 0.0798319327731092 TRUE NA ENSG00000163399.16 . BCM GRCh38.p13 chr1 116390297 116390297 + A A T Missense_Mutation SNP ENST00000295598.10 exon9 c.A1108T p.T370S exonic ENSG00000163399.16 . nonsynonymous SNV ENSG00000163399.16:ENST00000295598.10:exon9:c.A1108T:p.T370S 1p13.1 C3N-02944 . . . . . . . . . 16.20 D D B P D D M T D 0.753 D D D 0.855 0.750 0.954 1.545 T D D D D D 3.207 23.900 0.995 D D 0.517 5.168 0.555 5.699 1.000 0.731 0.750 0.702 0.711 . 4.870 4.870 9.325 1.312 0.756 1.000 0.998 0.993 702 . . . . ATP1A1 365 0 326 23 0.0659025787965616 TRUE TRUE ENSG00000134249.7 . BCM GRCh38.p13 chr1 119896302 119896302 + C C T Missense_Mutation SNP ENST00000369400.2 exon1 c.G35A p.R12H exonic ENSG00000134249.7 . nonsynonymous SNV ENSG00000134249.7:ENST00000369400.2:exon1:c.G35A:p.R12H 1p12 C3N-02944 . . . . . . . . . 1.20 D T B B N N N T N 0.053 T T T 0.111 0.634 0.168 0.134 T T T T T T -0.412 0.181 0.960 N N -1.208 0.221 -1.310 0.202 1.000 0.598 0.563 0.600 0.639 . 4.450 -4.510 -2.494 -0.447 0.524 0.000 0.000 0.003 859 . . . . ADAM30 47 0 27 4 0.129032258064516 TRUE TRUE ENSG00000239305.7 . BCM GRCh38.p13 chr2 86622677 86622677 + C C G Missense_Mutation SNP ENST00000237455.5 exon1 c.G210C p.E70D exonic ENSG00000239305.7 . nonsynonymous SNV ENSG00000239305.7:ENST00000237455.5:exon1:c.G210C:p.E70D 2p11.2 C3N-02944 . . . . . . . . . 5.20 T D B B D D N T N 0.278 T T D 0.170 0.149 0.752 0.186 D T T T T T 2.301 21.600 0.945 N N -0.390 1.406 -0.243 1.687 1.000 0.628 0.672 0.619 0.562 . 4.180 3.270 0.892 0.962 0.524 1.000 1.000 0.997 587 . . . . RNF103 379 0 301 23 0.0709876543209877 TRUE TRUE ENSG00000115850.10 . BCM GRCh38.p13 chr2 135809940 135809940 + C C G Missense_Mutation SNP ENST00000264162.7 exon8 c.G2407C p.D803H exonic ENSG00000115850.10 . nonsynonymous SNV ENSG00000115850.10:ENST00000264162.7:exon8:c.G2407C:p.D803H 2q21.3 C3N-02944 . . . . . . . . . 18.20 D D D D D D H T D 0.931 D D D 0.844 0.905 0.940 1.763 T D D D D D 3.773 25.700 0.995 D D 1.063 16.027 0.946 15.868 1.000 0.487 0.547 0.574 0.542 . 5.710 5.710 7.852 1.022 0.596 1.000 0.990 0.913 240 . . . . LCT 194 0 145 9 0.0584415584415584 TRUE TRUE ENSG00000144290.17 . BCM GRCh38.p13 chr2 161904125 161904125 + T T C Missense_Mutation SNP ENST00000446997.6 exon13 c.T1564C p.S522P exonic ENSG00000144290.17 . nonsynonymous SNV ENSG00000144290.17:ENST00000446997.6:exon13:c.T1564C:p.S522P 2q24.2 C3N-02944 . . . . . . . . . 20.20 D D D D D D H D D 0.868 D D D 0.925 0.772 0.942 1.397 D D D D D D 4.173 28.400 0.999 D D 0.919 11.558 0.846 11.622 1.000 0.554 0.574 0.618 0.613 . 5.410 5.410 8.017 1.138 0.665 1.000 1.000 1.000 641 Bicarbonate_transporter,_C-terminal . . . SLC4A10 205 0 175 17 0.0885416666666667 TRUE TRUE ENSG00000181744.9 . BCM GRCh38.p13 chr3 143985724 143985724 + A A C Missense_Mutation SNP ENST00000315691.8 exon2 c.A839C p.E280A exonic ENSG00000181744.9 . nonsynonymous SNV ENSG00000181744.9:ENST00000315691.8:exon2:c.A839C:p.E280A 3q24 C3N-02944 . . . . . . . . . 9.15 D D . . D D . T D 0.512 T T T 0.257 0.430 0.442 0.897 . . T T D D 2.904 23.200 0.992 D D 0.183 3.227 0.334 3.920 1.000 0.732 0.744 0.644 0.714 . 5.120 5.120 8.947 1.312 0.756 1.000 1.000 0.998 940 FAM69,_protein-kinase_domain . . . DIPK2A 297 0 197 15 0.0707547169811321 TRUE TRUE ENSG00000156194.18 . BCM GRCh38.p13 chr4 75866206 75866206 + C C T Missense_Mutation SNP ENST00000286719.12 exon15 c.G1903A p.E635K exonic ENSG00000156194.18 . nonsynonymous SNV ENSG00000156194.18:ENST00000286719.12:exon15:c.G1903A:p.E635K 4q21.1 C3N-02944 . . . . . . . . . 1.20 T T B B U N N T N 0.201 T T T 0.033 0.370 0.462 0.169 T T T T T T 1.082 12.590 0.983 D N -0.712 0.793 -0.610 1.031 0.258 0.487 0.563 0.574 0.530 . 4.670 2.850 1.609 0.102 -0.230 0.666 0.316 0.272 902 . . . ID=COSV54422600;OCCURENCE=1(skin) PPEF2 68 0 57 15 0.208333333333333 TRUE TRUE ENSG00000092421.16 . BCM GRCh38.p13 chr5 116486965 116486965 + A A G Missense_Mutation SNP ENST00000257414.12 exon10 c.T746C p.V249A exonic ENSG00000092421.16 . nonsynonymous SNV ENSG00000092421.16:ENST00000257414.12:exon10:c.T746C:p.V249A 5q23.1 C3N-02944 . . . . . . . . . 7.17 T T . . D D . T N 0.575 T T T 0.295 0.452 0.329 0.854 D T D T D T 2.891 23.200 0.998 D D 0.481 4.892 0.525 5.391 1.000 0.672 0.634 0.702 0.621 . 5.900 5.900 7.509 1.312 0.756 1.000 0.995 0.944 980 Sema_domain . . . SEMA6A 184 0 130 8 0.0579710144927536 TRUE TRUE ENSG00000120318.16 . BCM GRCh38.p13 chr5 141655385 141655385 + G G A Missense_Mutation SNP ENST00000239440.9 exon32 c.C4126T p.R1376W exonic ENSG00000120318.16 . nonsynonymous SNV ENSG00000120318.16:ENST00000239440.9:exon32:c.C4126T:p.R1376W 5q31.3 C3N-02944 0.0001 0 0 0 0.0011 0.0002 0 0 rs141682206 13.20 D D D D D D M T D 0.882 T T D 0.220 . 0.427 1.055 T T T T D D 4.411 31 0.999 D D 0.579 5.720 0.588 6.072 1.000 0.737 0.590 0.733 0.714 . 5.120 5.120 2.825 1.176 0.676 1.000 1.000 0.998 771 . . . . ARAP3 129 0 86 5 0.0549450549450549 TRUE NA ENSG00000196422.11 . BCM GRCh38.p13 chr9 135486347 135486347 + G G A Missense_Mutation SNP ENST00000356818.7 exon4 c.G1837A p.V613M exonic ENSG00000196422.11 . nonsynonymous SNV ENSG00000196422.11:ENST00000356818.7:exon4:c.G1837A:p.V613M 9q34.3 C3N-02944 8.436e-06 0.0001 0 0 0 0 0 0 rs756198560 0.20 T T B B N N L T N 0.028 T T T 0.021 . 0.223 0.627 T T T T T T -0.256 0.387 0.993 N N -1.087 0.318 -1.184 0.296 1.000 0.672 0.588 0.702 0.636 . 5.310 -4.750 -1.139 0.079 -0.103 0.000 0.005 0.016 511 Protein_phosphatase_1_regulatory_subunit_26,_N-terminal_domain . . . PPP1R26 298 0 253 18 0.0664206642066421 TRUE NA ENSG00000151150.22 . BCM GRCh38.p13 chr10 60134318 60134318 + G G A Missense_Mutation SNP ENST00000280772.7 exon25 c.C2794T p.R932W exonic ENSG00000151150.22 . nonsynonymous SNV ENSG00000151150.22:ENST00000280772.7:exon25:c.C2794T:p.R932W 10q21.2 C3N-02944 8.288e-06 0 0 0 0 1.505e-05 0 0 rs771103668 18.20 D D D D N D M T D 0.920 D D D 0.387 0.431 0.864 1.601 D D D D D D 4.106 27.800 0.999 D D 0.634 6.286 0.600 6.229 1.000 0.635 0.547 0.644 0.655 . 6.070 5.170 3.039 0.161 0.676 1.000 0.997 0.998 840 . . . . ANK3 209 0 159 9 0.0535714285714286 TRUE NA ENSG00000171813.14 . BCM GRCh38.p13 chr10 132405597 132405597 + C C T Missense_Mutation SNP ENST00000305233.6 exon2 c.C1097T p.P366L exonic ENSG00000171813.14 . nonsynonymous SNV ENSG00000171813.14:ENST00000305233.6:exon2:c.C1097T:p.P366L 10q26.3 C3N-02944 8.043e-05 0.0001 8.862e-05 0.0001 0 9.912e-05 0 0 rs200265938 2.20 T T B B U N L T D 0.204 T T D 0.080 . 0.093 0.804 T T T T T T 1.612 16.450 0.988 N N -0.639 0.918 -0.624 1.011 1.000 0.840 0.588 0.737 0.636 . 4.060 4.060 2.350 0.768 -0.200 0.015 0.003 0.001 994 . . . . PWWP2B 312 0 283 20 0.066006600660066 TRUE NA ENSG00000130037.5 . BCM GRCh38.p13 chr12 5045024 5045024 + G G A Missense_Mutation SNP ENST00000252321.5 exon1 c.G877A p.A293T exonic ENSG00000130037.5 . nonsynonymous SNV ENSG00000130037.5:ENST00000252321.5:exon1:c.G877A:p.A293T 12p13.32 C3N-02944 . . . . . . . . rs898525645 3.20 T T B B N N N D N 0.131 T D D 0.288 0.335 0.998 0.509 T T T T T T 1.315 14.490 0.827 N N -0.890 0.533 -0.781 0.784 0.152 0.598 0.563 0.596 0.542 . 4.770 3.850 2.967 1.089 0.575 0.166 0.001 0.004 680 Ion_transport_domain . . ID=COSV52905174;OCCURENCE=1(stomach),1(thyroid),1(upper_aerodigestive_tract) KCNA5 245 1 212 19 0.0822510822510823 TRUE TRUE ENSG00000111732.11 . BCM GRCh38.p13 chr12 8605482 8605482 + C C T Missense_Mutation SNP ENST00000229335.11 exon3 c.G160A p.G54S exonic ENSG00000111732.11 . nonsynonymous SNV ENSG00000111732.11:ENST00000229335.11:exon3:c.G160A:p.G54S 12p13.31 C3N-02944 . . . . . . . . . 12.20 D T D D D D M T D 0.635 T T D 0.379 0.532 0.880 1.866 T T T T D D 3.613 25.100 0.997 D D 0.273 3.641 0.141 2.908 0.858 0.672 0.702 0.578 0.530 . 5.190 4.290 4.783 1.026 0.599 0.997 0.080 0.199 927 APOBEC-like,_N-terminal;Cytidine_and_deoxycytidylate_deaminase_domain . . ID=COSV57563615;OCCURENCE=1(salivary_gland),1(skin) AICDA 360 0 283 26 0.0841423948220065 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-02944 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 265 0 229 20 0.0803212851405622 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674935 7674935 + C C A Missense_Mutation SNP ENST00000269305.8 exon6 c.G596T p.G199V exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon6:c.G596T:p.G199V 17p13.1 C3N-02944 . . . . . . . . . 18.20 D D D D D D M D D 0.960 D D D 0.899 0.901 0.965 1.857 T D D D D T 4.050 27.400 0.997 D D 0.766 8.152 0.661 7.077 1.000 0.722 0.698 0.702 0.735 . 5.280 5.280 7.905 1.015 0.599 1.000 0.844 0.981 433 p53,_DNA-binding_domain . . ID=COSV52679535;OCCURENCE=5(breast),1(liver),11(large_intestine),2(central_nervous_system),1(biliary_tract),2(ovary),1(stomach),1(urinary_tract),1(skin),3(prostate),2(upper_aerodigestive_tract) TP53 492 0 330 26 0.0730337078651685 TRUE TRUE ENSG00000187912.12 . BCM GRCh38.p13 chr19 14610087 14610087 + A A G Missense_Mutation SNP ENST00000417570.6 exon14 c.A1028G p.N343S exonic ENSG00000187912.12 . nonsynonymous SNV ENSG00000187912.12:ENST00000417570.6:exon14:c.A1028G:p.N343S 19p13.12 C3N-02944 . . . . . . . . . 8.19 D D D D . D L T D 0.448 T T T 0.156 0.380 0.507 0.454 T T T T D T 3.102 23.600 0.998 D N 0.464 4.771 0.350 4.021 0.700 0.672 0.702 0.574 0.564 . 3.880 3.880 3.588 1.092 0.756 1.000 0.945 0.498 958 C-type_lectin-like;CD209-like,_C-type_lectin-like_domain . . . CLEC17A 149 0 119 13 0.0984848484848485 TRUE TRUE ENSG00000105755.8 . BCM GRCh38.p13 chr19 43511560 43511560 + C C G Missense_Mutation SNP ENST00000292147.7 exon4 c.G382C p.E128Q exonic ENSG00000105755.8 . nonsynonymous SNV ENSG00000105755.8:ENST00000292147.7:exon4:c.G382C:p.E128Q 19q13.31 C3N-02944 . . . . . . . . . 11.20 T T P B N D L D N 0.379 D D D 0.673 0.409 0.930 0.699 T D D D D T 2.358 21.900 0.992 D D 0.117 2.953 0.184 3.107 1.000 0.706 0.644 0.710 0.714 . 4.950 4.950 4.615 1.011 0.581 1.000 0.977 0.352 889 Metallo-beta-lactamase . . . ETHE1 286 0 239 18 0.0700389105058366 TRUE TRUE ENSG00000267467.4 . BCM GRCh38.p13 chr19 44945301 44945301 + G G A Missense_Mutation SNP ENST00000592954.2 exon3 c.G380A p.G127D exonic ENSG00000267467.4 . nonsynonymous SNV ENSG00000267467.4:ENST00000592954.2:exon3:c.G380A:p.G127D 19q13.32 C3N-02944 1.692e-05 0 0 0 0 1.534e-05 0 6.434e-05 rs562108646 1.16 . D B B N N N T . 0.076 T T T 0.005 0.196 0.030 . . T T T T . -0.214 0.476 0.976 N N -1.402 0.116 -1.446 0.130 1.000 0.428 0.547 0.547 0.613 . 3.520 -1.480 -0.805 -0.147 -0.105 0.000 0.048 0.228 873 . . . . APOC4 103 0 70 9 0.113924050632911 TRUE NA ENSG00000177380.14 . BCM GRCh38.p13 chr19 49133832 49133832 + C C T Missense_Mutation SNP ENST00000334186.9 exon10 c.C1198T p.R400W exonic ENSG00000177380.14 . nonsynonymous SNV ENSG00000177380.14:ENST00000334186.9:exon10:c.C1198T:p.R400W 19q13.33 C3N-02944 . . . . . . . . . 13.20 D D D D U D M T D 0.735 T T D 0.253 0.315 0.547 2.678 T T D T D D 4.157 28.300 0.999 D D 0.343 4.007 0.242 3.396 1.000 0.652 0.525 0.641 0.619 . 4.010 1.560 1.106 0.947 0.599 0.953 0.997 0.985 631 . . . ID=COSV61949585;OCCURENCE=1(urinary_tract),1(lung) PPFIA3 305 0 246 14 0.0538461538461538 TRUE TRUE ENSG00000179709.8 . BCM GRCh38.p13 chr19 55954522 55954522 + C C A Nonsense_Mutation SNP ENST00000291971.7 exon3 c.C464A p.S155X exonic ENSG00000179709.8 . stopgain ENSG00000179709.8:ENST00000291971.7:exon3:c.C464A:p.S155X 19q13.43 C3N-02944 . . . . . . . . . 1.5 . . . . . A . . . 0.068 . . . . . . . . . T T . . 3.782 25.800 0.864 N N -0.681 0.845 -1.110 0.366 0.000 0.487 0.574 0.547 0.564 . 1.770 -1.850 -1.403 -1.845 -1.094 0.000 0.000 0.000 946 . . . . NLRP8 133 0 115 13 0.1015625 TRUE TRUE ENSG00000101161.8 . BCM GRCh38.p13 chr20 63994991 63994991 + C C T Missense_Mutation SNP ENST00000266079.5 exon5 c.C514T p.R172W exonic ENSG00000101161.8 . nonsynonymous SNV ENSG00000101161.8:ENST00000266079.5:exon5:c.C514T:p.R172W 20q13.33 C3N-02944 8.237e-06 0 0 0 0 1.499e-05 0 0 rs369787039 20.20 D D D D D D M D D 0.891 D D D 0.901 . 0.962 2.310 D D D D D D 4.081 27.600 0.999 D D 0.429 4.528 0.306 3.749 0.001 0.707 0.725 0.725 0.714 . 5.710 2.480 3.649 -0.251 -0.915 1.000 0.930 0.393 . . . . ID=COSV99411405;OCCURENCE=1(endometrium) PRPF6 383 0 278 22 0.0733333333333333 TRUE NA ENSG00000154767.15 . BCM GRCh38.p13 chr3 14158542 14158542 + G G A Silent SNP ENST00000285021.12 exon9 c.C1341T p.L447L exonic ENSG00000154767.15 . synonymous SNV ENSG00000154767.15:ENST00000285021.12:exon9:c.C1341T:p.L447L 3p25.1 C3N-02944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XPC 165 0 131 16 0.108843537414966 TRUE TRUE ENSG00000151150.22 . BCM GRCh38.p13 chr10 60070606 60070606 + A A G Silent SNP ENST00000280772.7 exon37 c.T10275C p.D3425D exonic ENSG00000151150.22 . synonymous SNV ENSG00000151150.22:ENST00000280772.7:exon37:c.T10275C:p.D3425D 10q21.2 C3N-02944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANK3 214 0 150 10 0.0625 TRUE NA ENSG00000134569.10 . BCM GRCh38.p13 chr11 46873461 46873461 + C C T Silent SNP ENST00000378623.6 exon29 c.G4362A p.A1454A exonic ENSG00000134569.10 . synonymous SNV ENSG00000134569.10:ENST00000378623.6:exon29:c.G4362A:p.A1454A 11p11.2 C3N-02944 1.648e-05 0 0 0 0 0 0 0.0001 rs775166531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP4 595 0 566 34 0.0566666666666667 TRUE NA ENSG00000186660.15 . BCM GRCh38.p13 chr11 58579569 58579569 + C C T Silent SNP ENST00000316059.7 exon1 c.C288T p.P96P exonic ENSG00000186660.15;ENSG00000255073.8 . synonymous SNV ENSG00000186660.15:ENST00000316059.7:exon1:c.C288T:p.P96P,ENSG00000255073.8:ENST00000389919.8:exon1:c.C288T:p.P96P 11q12.1 C3N-02944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFP91 264 0 248 23 0.0848708487084871 TRUE NA ENSG00000180357.9 . BCM GRCh38.p13 chr15 64622994 64622994 + C C T Silent SNP ENST00000326648.4 exon2 c.C915T p.P305P exonic ENSG00000180357.9 . synonymous SNV ENSG00000180357.9:ENST00000326648.4:exon2:c.C915T:p.P305P 15q22.31 C3N-02944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF609 314 0 270 17 0.0592334494773519 TRUE NA ENSG00000005102.14 . BCM GRCh38.p13 chr17 43661361 43661361 + C C T Silent SNP ENST00000318579.9 exon1 c.G174A p.A58A exonic ENSG00000005102.14 . synonymous SNV ENSG00000005102.14:ENST00000318579.9:exon1:c.G174A:p.A58A 17q21.31 C3N-02944 0.0001 0 0 0 0 7.557e-05 0 0.0006 rs373476200 2.14 D T . . . D . . N 0.062 T T T 0.098 . 0.236 . . T T T T T -0.168 0.599 0.725 N N -1.313 0.158 -1.548 0.091 1.000 0.403 0.219 0.578 0.613 . 3.820 -7.640 -2.554 -1.092 -0.987 0.000 0.328 0.223 557 . . . ID=COSV59355290;OCCURENCE=1(breast),1(large_intestine),1(endometrium) MEOX1 118 0 80 5 0.0588235294117647 TRUE NA ENSG00000105278.12 . BCM GRCh38.p13 chr19 3827534 3827534 + G G A Silent SNP ENST00000262961.9 exon6 c.C972T p.C324C exonic ENSG00000105278.12 . synonymous SNV ENSG00000105278.12:ENST00000262961.9:exon6:c.C972T:p.C324C 19p13.3 C3N-02944 9.963e-05 0 0 0 0 0.0001 0 0.0001 rs773842233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99507699;OCCURENCE=1(cervix) ZFR2 359 1 292 23 0.073015873015873 TRUE NA ENSG00000100354.21 . BCM GRCh38.p13 chr22 40265037 40265037 + A A G Silent SNP ENST00000454349.7 exon5 c.A807G p.Q269Q exonic ENSG00000100354.21 . synonymous SNV ENSG00000100354.21:ENST00000454349.7:exon5:c.A807G:p.Q269Q 22q13.1 C3N-02944 0.0003 0.0001 0.0010 0 0.0006 0.0003 0.0011 0.0002 rs186669938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100109279;OCCURENCE=1(prostate) TNRC6B 122 0 83 9 0.0978260869565217 TRUE NA ENSG00000101204.17 . BCM GRCh38.p13 chr20 63343795 63343795 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000101204.17 ENST00000370263.9:c.*2943G>A . . 20q13.33 C3N-02944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHRNA4 213 0 156 9 0.0545454545454545 TRUE NA ENSG00000183114.8 . BCM GRCh38.p13 chr1 20553440 20553440 + C C T Missense_Mutation SNP ENST00000332947.6 exon1 c.C467T p.P156L exonic ENSG00000183114.8 . nonsynonymous SNV ENSG00000183114.8:ENST00000332947.6:exon1:c.C467T:p.P156L 1p36.12 C3N-00436 . . . . . . . . . 15.19 D D D D U D M . D 0.775 T T D 0.453 0.748 0.413 . D T D D D D 4.120 27.900 0.999 D D 0.604 5.964 0.529 5.435 1.000 0.598 0.563 0.504 0.639 . 3.920 3.920 5.094 0.865 0.454 1.000 1.000 0.992 894 FAM43A/B,_phosphotyrosine-binding_domain;PTB/PI_domain . . . FAM43B 78 0 237 26 0.0988593155893536 TRUE TRUE ENSG00000142784.16 . BCM GRCh38.p13 chr1 27303737 27303737 + C C T Missense_Mutation SNP ENST00000319394.8 exon14 c.C1585T p.R529C exonic ENSG00000142784.16 . nonsynonymous SNV ENSG00000142784.16:ENST00000319394.8:exon14:c.C1585T:p.R529C 1p36.11 C3N-00436 8.325e-06 0 0 0 0 1.519e-05 0 0 rs758639908 18.20 D D D D D D M T D 0.950 D D D 0.555 0.564 0.557 2.306 D D D D D D 4.241 29.000 0.999 D N 0.673 6.753 0.602 6.251 0.649 0.744 0.710 0.630 0.714 . 4.840 4.840 2.224 0.947 0.599 1.000 1.000 0.998 330 . . . ID=COSV60087979;OCCURENCE=2(urinary_tract) WDTC1 359 0 625 80 0.113475177304965 TRUE TRUE ENSG00000065243.20 . BCM GRCh38.p13 chr1 88833143 88833143 + C C T Missense_Mutation SNP ENST00000370521.8 exon21 c.C2737T p.H913Y exonic ENSG00000065243.20 . nonsynonymous SNV ENSG00000065243.20:ENST00000370521.8:exon21:c.C2737T:p.H913Y 1p22.2 C3N-00436 . . . . . . . . . 14.20 D D D D U D M T N 0.631 D T D 0.503 0.803 0.696 1.342 T T D D D D 3.931 26.500 0.998 D D 0.938 12.066 0.881 12.968 1.000 0.706 0.725 0.710 0.714 . 5.620 5.620 5.802 1.026 0.549 1.000 1.000 0.996 880 Protein_kinase_domain . . . PKN2 269 0 464 36 0.072 TRUE TRUE ENSG00000136628.18 . BCM GRCh38.p13 chr1 219978686 219978686 + G G A Missense_Mutation SNP ENST00000366923.8 exon28 c.C3943T p.L1315F exonic ENSG00000136628.18 . nonsynonymous SNV ENSG00000136628.18:ENST00000366923.8:exon28:c.C3943T:p.L1315F 1q41 C3N-00436 . . . . . . . . . 8.20 D T P P D D M T N 0.598 T T T 0.116 0.430 0.468 0.243 T T T T D D 3.739 25.600 0.999 D D 0.488 4.944 0.506 5.217 0.990 0.707 0.725 0.725 0.714 . 5.810 4.880 4.887 1.176 0.676 1.000 1.000 0.998 870 Anticodon-binding . . . EPRS1 103 0 158 22 0.122222222222222 TRUE TRUE ENSG00000158125.10 . BCM GRCh38.p13 chr2 31386524 31386524 + C C T Missense_Mutation SNP ENST00000379416.4 exon9 c.G683A p.R228Q exonic ENSG00000158125.10 . nonsynonymous SNV ENSG00000158125.10:ENST00000379416.4:exon9:c.G683A:p.R228Q 2p23.1 C3N-00436 1.647e-05 0 0 0 0 1.498e-05 0 6.056e-05 rs745346331 2.20 T T B B N N M T N 0.434 T T T 0.059 0.342 0.321 0.041 T T T T T D 1.418 15.210 0.916 N N -0.679 0.848 -0.670 0.944 0.999 0.554 0.547 0.602 0.564 . 5.700 2.900 3.604 1.026 0.589 0.921 0.188 0.234 928 Xanthine_dehydrogenase,_small_subunit . . ID=COSV65148108;OCCURENCE=1(breast),3(large_intestine),1(skin) XDH 517 0 970 80 0.0761904761904762 TRUE TRUE ENSG00000205221.12 . BCM GRCh38.p13 chr2 36808650 36808650 + C C T Missense_Mutation SNP ENST00000389975.7 exon14 c.C1523T p.T508M exonic ENSG00000205221.12 . nonsynonymous SNV ENSG00000205221.12:ENST00000389975.7:exon14:c.C1523T:p.T508M 2p22.2 C3N-00436 1.649e-05 0 0 0.0001 0 1.501e-05 0 0 rs182729056 16.20 D D D D D D M D D 0.655 D D D 0.570 0.445 0.928 0.091 T T T D D D 3.815 25.900 0.998 D N 0.557 5.513 0.471 4.905 1.000 0.487 0.547 0.574 0.542 . 5.270 5.270 2.968 1.026 0.599 0.985 0.857 0.687 720 von_Willebrand_factor,_type_A . . ID=COSV101007796;OCCURENCE=1(stomach) VIT 240 0 395 46 0.104308390022676 TRUE NA ENSG00000183091.19 . BCM GRCh38.p13 chr2 151643979 151643979 + T T A Nonsense_Mutation SNP ENST00000172853.14 exon57 c.A7795T p.K2599X exonic ENSG00000183091.19 . stopgain ENSG00000183091.19:ENST00000172853.14:exon57:c.A7795T:p.K2599X 2q23.3 C3N-00436 . . . . . . . . . 5.6 . . . . D A . . . 0.883 . . . . . . . . . D D . . 8.556 43 0.996 D N 0.817 9.122 0.713 8.010 1.000 0.554 0.547 0.602 0.564 . 5.920 5.920 2.353 1.138 0.665 1.000 0.998 0.998 886 . . . . NEB 425 0 852 77 0.0828848223896663 NA TRUE ENSG00000144290.17 . BCM GRCh38.p13 chr2 161804521 161804521 + G G A Missense_Mutation SNP ENST00000446997.6 exon3 c.G203A p.R68H exonic ENSG00000144290.17 . nonsynonymous SNV ENSG00000144290.17:ENST00000446997.6:exon3:c.G203A:p.R68H 2q24.2 C3N-00436 4.289e-05 0 0 0 0 7.742e-05 0 0 rs759420527 7.20 T T B B D D N T N 0.402 T T D 0.332 . 0.773 0.504 D T T T T D 2.334 21.800 0.812 D D -0.191 1.903 0.058 2.570 0.882 0.554 0.574 0.602 0.542 . 5.360 5.360 6.706 1.176 0.676 1.000 1.000 0.995 680 . . . ID=COSV55768636;OCCURENCE=1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(stomach),1(upper_aerodigestive_tract),1(endometrium) SLC4A10 201 0 361 28 0.0719794344473008 TRUE TRUE ENSG00000178568.15 . BCM GRCh38.p13 chr2 211431076 211431076 + G G A Nonsense_Mutation SNP ENST00000342788.9 exon21 c.C2512T p.R838X exonic ENSG00000178568.15 . stopgain ENSG00000178568.15:ENST00000342788.9:exon21:c.C2512T:p.R838X 2q34 C3N-00436 . . . . . . . . . 5.6 . . . . D A . . . 0.904 . . . . . . . . . D D . . 8.086 41 0.998 D N 0.822 9.236 0.694 7.649 0.024 0.487 0.574 0.574 0.632 . 5.170 5.170 3.273 -0.133 0.676 1.000 0.962 0.980 515 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV61472598;OCCURENCE=1(oesophagus),2(large_intestine),1(kidney),1(pancreas),2(prostate),1(lung),1(upper_aerodigestive_tract),1(endometrium) ERBB4 266 0 365 40 0.0987654320987654 TRUE TRUE ENSG00000163359.16 . BCM GRCh38.p13 chr2 237344602 237344602 + C C G Missense_Mutation SNP ENST00000295550.9 exon36 c.G7416C p.K2472N exonic ENSG00000163359.16 . nonsynonymous SNV ENSG00000163359.16:ENST00000295550.9:exon36:c.G7416C:p.K2472N 2q37.3 C3N-00436 . . . . . . . . . 4.20 T D D P N N L D N 0.210 T T D 0.220 0.538 0.700 0.174 T T T T T T 2.888 23.200 0.872 N N -0.871 0.558 -0.902 0.618 0.996 0.615 0.590 0.659 0.530 . 5.070 -3.010 0.622 -0.940 -0.218 0.546 0.261 0.890 955 von_Willebrand_factor,_type_A . . . COL6A3 225 0 353 27 0.0710526315789474 TRUE TRUE ENSG00000173040.13 . BCM GRCh38.p13 chr4 5628625 5628625 + G G A Missense_Mutation SNP ENST00000344408.10 exon12 c.C1820T p.T607I exonic ENSG00000173040.13 . nonsynonymous SNV ENSG00000173040.13:ENST00000344408.10:exon12:c.C1820T:p.T607I 4p16.2 C3N-00436 . . . . . . . . rs1044253878 3.20 T T B B N N L T D 0.247 T T D 0.139 0.199 0.798 0.032 T T T T T T 1.843 18.050 0.996 D N -0.270 1.690 -0.140 1.937 0.912 0.651 0.588 0.651 0.636 . 4.890 2.960 2.124 -0.564 0.618 1.000 0.058 0.982 929 . . . . EVC2 298 0 500 44 0.0808823529411765 TRUE NA ENSG00000197410.14 . BCM GRCh38.p13 chr4 154320987 154320987 + G G A Missense_Mutation SNP ENST00000357232.10 exon9 c.C4412T p.T1471M exonic ENSG00000197410.14 . nonsynonymous SNV ENSG00000197410.14:ENST00000357232.10:exon9:c.C4412T:p.T1471M 4q31.3 C3N-00436 1.649e-05 9.614e-05 0 0.0001 0 0 0 0 rs774677154 0.11 . . . . N N . . . . T T T 0.070 . . 0.105 T . T T T . 0.834 9.734 0.750 N N -0.823 0.622 -0.780 0.785 0.004 0.487 0.574 0.574 0.564 . 5.690 -1.650 1.509 -1.535 -1.478 0.901 0.119 0.648 737 Cadherin-like . . ID=COSV59717808;OCCURENCE=1(large_intestine),1(central_nervous_system),2(stomach) DCHS2 138 0 256 29 0.101754385964912 TRUE TRUE ENSG00000134516.18 . BCM GRCh38.p13 chr5 169840803 169840803 + G G A Missense_Mutation SNP ENST00000520908.7 exon27 c.G2750A p.R917Q exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon27:c.G2750A:p.R917Q 5q35.1 C3N-00436 8.318e-06 9.718e-05 0 0 0 0 0 0 rs765098414 10.20 D D B B D D M T D 0.544 T T T 0.215 0.487 0.677 1.344 T T T T D D 3.573 24.900 0.999 D D -0.037 2.383 0.116 2.803 1.000 0.719 0.723 0.659 0.621 . 5.280 5.280 6.749 1.176 0.618 1.000 0.875 0.798 975 . . . ID=COSV56969381;OCCURENCE=1(large_intestine),1(prostate) DOCK2 234 0 508 40 0.072992700729927 TRUE TRUE ENSG00000113758.13 . BCM GRCh38.p13 chr5 177459220 177459220 + G G A Missense_Mutation SNP ENST00000309007.9 exon11 c.C1004T p.T335M exonic ENSG00000113758.13 . nonsynonymous SNV ENSG00000113758.13:ENST00000309007.9:exon11:c.C1004T:p.T335M 5q35.3 C3N-00436 8.312e-06 0 0 0 0 1.514e-05 0 0 rs748335051 6.20 D T D P N D N T N 0.256 T T D 0.051 0.283 0.325 0.346 T T T T T D 2.068 19.770 0.993 D N 0.099 2.883 0.145 2.929 1.000 0.672 0.644 0.698 0.711 . 4.580 4.580 0.747 1.176 0.676 0.020 0.994 0.922 917 . . . . DBN1 191 1 426 41 0.0877944325481799 TRUE NA ENSG00000096093.16 . BCM GRCh38.p13 chr6 52438493 52438493 + C C T Missense_Mutation SNP ENST00000371068.11 exon3 c.C475T p.R159W exonic ENSG00000096093.16 . nonsynonymous SNV ENSG00000096093.16:ENST00000371068.11:exon3:c.C475T:p.R159W 6p12.2 C3N-00436 0.1004 0.0520 0.0721 0.0352 0.1038 0.1254 0.1311 0.0807 rs3804506 3.19 T T D B N N M T N 0.176 T T . 0.179 . . 0.187 T T T T T D 1.913 18.590 0.998 N N -0.036 2.386 -0.139 1.940 0.004 0.638 0.670 0.653 0.668 . 5.560 2.710 1.033 0.062 0.599 0.000 0.978 0.998 841 Domain_of_unknown_function_DUF1126;Uncharacterised_domain_DM10 PAQR8 Cells_Cultured_fibroblasts;Brain_Cortex;Artery_Tibial;Thyroid;Whole_Blood ID=COSV64137993;OCCURENCE=1(large_intestine) EFHC1 261 0 418 38 0.0833333333333333 TRUE TRUE ENSG00000165171.11 . BCM GRCh38.p13 chr7 73840461 73840461 + C C T Missense_Mutation SNP ENST00000297873.9 exon4 c.G341A p.R114H exonic ENSG00000165171.11 . nonsynonymous SNV ENSG00000165171.11:ENST00000297873.9:exon4:c.G341A:p.R114H 7q11.23 C3N-00436 1.959e-05 0 0 0 0 3.73e-05 0 0 rs782150735 0.19 T T B B N N . T N 0.042 T T T 0.019 0.425 0.102 0.150 T T T T T T -1.447 0.001 0.862 N N -1.656 0.044 -1.665 0.059 0.998 0.534 0.611 0.585 0.639 . 4.690 -3.760 -2.755 -2.101 -3.369 0.000 0.191 0.048 934 . . . . METTL27 216 0 394 36 0.0837209302325581 TRUE NA ENSG00000178462.12 . BCM GRCh38.p13 chr10 5394049 5394049 + G G A Missense_Mutation SNP ENST00000380419.8 exon4 c.C809T p.P270L exonic ENSG00000178462.12 . nonsynonymous SNV ENSG00000178462.12:ENST00000380419.8:exon4:c.C809T:p.P270L 10p15.1 C3N-00436 8.237e-06 0 0 0 0 1.498e-05 0 0 rs140777769 17.20 D D D D N D H D D 0.632 D D T 0.739 . 0.966 0.408 T D D D D D 2.395 22.100 0.997 D D 0.516 5.159 0.273 3.561 0.418 0.516 0.574 0.574 0.586 . 4.200 3.290 6.725 1.176 0.676 1.000 0.008 0.003 964 Tubulin/FtsZ,_2-layer_sandwich_domain . . ID=COSV66813873;OCCURENCE=1(large_intestine),1(kidney) TUBAL3 214 1 278 34 0.108974358974359 TRUE TRUE ENSG00000181958.4 . BCM GRCh38.p13 chr11 55368080 55368080 + C C T Missense_Mutation SNP ENST00000314706.3 exon1 c.C197T p.T66M exonic ENSG00000181958.4 . nonsynonymous SNV ENSG00000181958.4:ENST00000314706.3:exon1:c.C197T:p.T66M 11q11 C3N-00436 2.482e-05 0.0002 0 0 0 1.502e-05 0 0 rs199660751 7.20 D D D P D N M T D 0.342 T T T 0.060 . 0.319 . T T T T D T 1.953 18.900 0.997 N N -0.026 2.421 -0.343 1.478 0.000 0.487 0.574 0.574 0.564 . 3.480 2.530 0.948 -0.125 0.480 0.004 0.025 0.008 144 . . . ID=COSV59033672;OCCURENCE=1(breast),6(large_intestine),1(central_nervous_system),1(prostate),2(lung),1(small_intestine) OR4A15 186 0 312 26 0.0769230769230769 TRUE TRUE ENSG00000151067.22 . BCM GRCh38.p13 chr12 2457667 2457667 + C C T Missense_Mutation SNP ENST00000399655.6 exon5 c.C718T p.R240C exonic ENSG00000151067.22 . nonsynonymous SNV ENSG00000151067.22:ENST00000399655.6:exon5:c.C718T:p.R240C 12p13.33 C3N-00436 . . . . . . . . . 19.19 D D D D D D H D D 0.957 D D D 0.924 0.774 0.997 2.568 D D D D D . 3.993 26.900 0.999 D D 0.889 10.765 0.706 7.872 0.517 0.534 0.590 0.686 0.564 . 4.150 4.150 2.060 1.026 0.599 1.000 0.994 0.994 968 Ion_transport_domain . . ID=COSV59761814;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) CACNA1C 65 0 108 7 0.0608695652173913 TRUE TRUE ENSG00000111404.6 . BCM GRCh38.p13 chr12 18088929 18088929 + C C T Missense_Mutation SNP ENST00000229002.6 exon3 c.G83A p.R28Q exonic ENSG00000111404.6 . nonsynonymous SNV ENSG00000111404.6:ENST00000229002.6:exon3:c.G83A:p.R28Q 12p12.3 C3N-00436 0.0006 0.0061 0.0003 0 0 4.503e-05 0 0 rs138852095 12.20 D D D D N D M T D 0.684 T T D 0.472 . 0.450 0.122 T T T D T D 3.950 26.600 0.999 D D 0.292 3.737 0.212 3.243 0.001 0.487 0.574 0.574 0.564 . 4.210 3.320 5.717 0.071 -0.276 0.996 0.939 0.834 946 . . . ID=COSV57461417;OCCURENCE=1(large_intestine),1(NS) RERGL 230 0 334 29 0.0798898071625344 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-00436 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 352 1 540 51 0.0862944162436548 TRUE TRUE ENSG00000185610.6 . BCM GRCh38.p13 chr12 45050660 45050660 + C C G Missense_Mutation SNP ENST00000332700.6 exon1 c.G268C p.E90Q exonic ENSG00000185610.6 . nonsynonymous SNV ENSG00000185610.6:ENST00000332700.6:exon1:c.G268C:p.E90Q 12q12 C3N-00436 . . . . . . . . . 4.19 T T P P . N L D N 0.166 T D D 0.194 0.255 0.479 0.150 D T T T T T 1.755 17.410 0.965 N N -0.417 1.347 -0.535 1.146 0.999 0.598 0.563 0.504 0.639 . 2.960 2.960 2.198 0.046 0.593 0.286 0.006 0.045 757 . . . . DBX2 193 0 394 23 0.0551558752997602 TRUE TRUE ENSG00000174373.16 . BCM GRCh38.p13 chr14 35549218 35549218 + G G A Nonsense_Mutation SNP ENST00000389698.7 exon39 c.C5995T p.R1999X exonic ENSG00000174373.16 . stopgain ENSG00000174373.16:ENST00000389698.7:exon39:c.C5995T:p.R1999X 14q13.2 C3N-00436 . . . . . . . . . 5.6 . . . . D A . . . 0.464 . . . . . . . . . D D . . 8.835 45 0.995 D N 0.819 9.164 0.670 7.220 0.965 0.554 0.588 0.602 0.568 . 5.200 5.200 7.128 1.176 0.618 1.000 0.999 0.995 444 Rap_GTPase_activating_protein_domain . . ID=COSV51878805;OCCURENCE=3(large_intestine),1(central_nervous_system) RALGAPA1 197 0 298 26 0.0802469135802469 TRUE TRUE ENSG00000100678.19 . BCM GRCh38.p13 chr14 70167626 70167626 + C C T Missense_Mutation SNP ENST00000381269.6 exon2 c.G797A p.R266H exonic ENSG00000100678.19 . nonsynonymous SNV ENSG00000100678.19:ENST00000381269.6:exon2:c.G797A:p.R266H 14q24.2 C3N-00436 1.648e-05 9.612e-05 0 0 0 1.499e-05 0 0 rs375603290 15.20 D D D D D D M T D 0.810 T T D 0.505 . 0.520 0.746 T D T D D D 4.009 27.000 0.999 D D 0.955 12.561 0.910 14.171 1.000 0.554 0.610 0.618 0.564 . 5.710 5.710 7.899 1.026 0.599 1.000 1.000 0.999 665 Sodium/calcium_exchanger_domain,_C-terminal_extension . . ID=COSV63519686;OCCURENCE=1(large_intestine),1(pancreas),1(endometrium) SLC8A3 453 0 755 52 0.0644361833952912 TRUE TRUE ENSG00000172349.17 . BCM GRCh38.p13 chr15 81225671 81225671 + A A T Missense_Mutation SNP ENST00000302987.8 exon1 c.A272T p.N91I exonic ENSG00000172349.17 . nonsynonymous SNV ENSG00000172349.17:ENST00000302987.8:exon1:c.A272T:p.N91I 15q25.1 C3N-00436 . . . . . . . . . 2.20 D D B B N N N T N 0.459 T T T 0.017 0.276 0.067 0.175 T T T T T T 1.035 12.060 0.961 N N -0.921 0.494 -0.970 0.528 0.999 0.554 0.588 0.574 0.564 . 4.180 0.824 0.308 -0.195 -0.793 0.016 0.605 0.006 814 . . . . IL16 94 0 167 12 0.0670391061452514 TRUE TRUE ENSG00000140553.18 . BCM GRCh38.p13 chr15 90950524 90950524 + G G A Missense_Mutation SNP ENST00000418476.2 exon17 c.G2212A p.V738I exonic ENSG00000140553.18 . nonsynonymous SNV ENSG00000140553.18:ENST00000418476.2:exon17:c.G2212A:p.V738I 15q26.1 C3N-00436 . . . . . . . . . 6.20 T T D D D D L T N 0.387 T T T 0.195 0.359 0.542 0.118 T T T T T T 3.376 24.300 0.997 D D 0.507 5.094 0.548 5.632 1.000 0.707 0.725 0.725 0.711 . 5.410 5.410 6.582 1.176 0.676 1.000 0.993 0.953 538 . . . . UNC45A 205 0 378 31 0.0757946210268949 TRUE NA ENSG00000185864.16 . BCM GRCh38.p13 chr16 21837124 21837124 + G G - Frame_Shift_Del NA ENST00000415645.6 exon7 c.1263delC p.S422Qfs*207 exonic ENSG00000185864.16 . frameshift deletion ENSG00000185864.16:ENST00000415645.6:exon7:c.1263delC:p.S422Qfs*207 16p12.2 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPIPB4 21 0 18 7 0.28 NA TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674894 7674894 + G G A Nonsense_Mutation SNP ENST00000269305.8 exon6 c.C637T p.R213X exonic ENSG00000141510.17 . stopgain ENSG00000141510.17:ENST00000269305.8:exon6:c.C637T:p.R213X 17p13.1 C3N-00436 8.255e-06 0 0 0 0 1.5e-05 0 0 rs397516436 5.6 . . . . D A . . . 0.994 . . . . . . . . . D D . . 7.994 40 0.998 D N 0.425 4.504 0.212 3.241 0.134 0.722 0.698 0.702 0.735 . 5.280 3.250 0.754 1.176 0.676 0.602 0.994 0.998 433 p53,_DNA-binding_domain . . ID=COSV52665560;OCCURENCE=4(salivary_gland),95(breast),2(penis),1(peritoneum),9(liver),59(oesophagus),1(adrenal_gland),1(cervix),148(large_intestine),20(central_nervous_system),10(biliary_tract),1(pleura),15(ovary),2(bone),9(NS),21(haematopoietic_and_lymphoid_tissue),38(stomach),12(urinary_tract),9(soft_tissue),6(kidney),28(pancreas),52(skin),12(prostate),30(lung),8(thyroid),42(upper_aerodigestive_tract),2(small_intestine),28(endometrium) TP53 510 0 689 72 0.0946123521681997 TRUE TRUE ENSG00000007171.18 . BCM GRCh38.p13 chr17 27774420 27774420 + G G A Missense_Mutation SNP ENST00000313735.11 exon12 c.C1313T p.S438L exonic ENSG00000007171.18 . nonsynonymous SNV ENSG00000007171.18:ENST00000313735.11:exon12:c.C1313T:p.S438L 17q11.2 C3N-00436 . . . . . . . . . 14.20 D D D D D D M T D 0.688 T T D 0.450 0.631 0.653 0.432 T T D T D D 4.206 28.700 0.999 D D 0.886 10.700 0.872 12.621 1.000 0.615 0.590 0.659 0.613 . 5.670 5.670 9.932 1.176 0.676 1.000 0.618 0.918 185 Nitric_oxide_synthase,_N-terminal . . . NOS2 41 0 68 7 0.0933333333333333 TRUE NA ENSG00000108256.9 . BCM GRCh38.p13 chr17 29286841 29286841 + A A C Missense_Mutation SNP ENST00000225388.9 exon2 c.T1153G p.S385A exonic ENSG00000108256.9 . nonsynonymous SNV ENSG00000108256.9:ENST00000225388.9:exon2:c.T1153G:p.S385A 17q11.2 C3N-00436 . . . . . . . . . 2.19 T T B B N D L . N 0.345 T T T 0.112 0.194 0.282 0.104 T T T T T T 1.520 15.870 0.372 D N -0.339 1.521 -0.125 1.978 1.000 0.672 0.698 0.702 0.711 . 5.630 4.350 2.512 1.312 0.756 0.979 0.988 0.890 387 . . . . NUFIP2 269 0 397 37 0.0852534562211982 TRUE TRUE ENSG00000171401.15 . BCM GRCh38.p13 chr17 41502402 41502402 + G G A Missense_Mutation SNP ENST00000246635.8 exon6 c.C1216T p.R406C exonic ENSG00000171401.15 . nonsynonymous SNV ENSG00000171401.15:ENST00000246635.8:exon6:c.C1216T:p.R406C 17q21.2 C3N-00436 5.766e-05 0.0005 0 0 0 1.498e-05 0 6.056e-05 rs138885186 16.20 D T P P D D M D D 0.955 D D D 0.777 . 0.952 0.565 T D D D D D 4.275 29.400 0.999 D D 0.371 4.169 0.389 4.279 0.656 0.554 0.563 0.616 0.568 . 4.450 4.450 3.674 1.176 0.606 1.000 1.000 0.997 440 Intermediate_filament,_rod_domain;Intermediate_filament_protein,_conserved_site . . . KRT13 403 0 775 72 0.0850059031877214 TRUE NA ENSG00000198862.14 . BCM GRCh38.p13 chr21 28966407 28966407 + T T A Missense_Mutation SNP ENST00000361371.10 exon10 c.A2084T p.D695V exonic ENSG00000198862.14 . nonsynonymous SNV ENSG00000198862.14:ENST00000361371.10:exon10:c.A2084T:p.D695V 21q21.3 C3N-00436 . . . . . . . . . 2.20 D T B B N N L T D 0.298 T T T 0.031 0.290 0.257 0.397 T T T T T T 2.476 22.400 0.959 N N -0.667 0.869 -0.635 0.994 0.108 0.672 0.546 0.609 0.711 . 5.130 2.690 0.979 0.200 0.665 0.001 0.926 0.983 964 . . . . LTN1 169 0 227 14 0.0580912863070539 TRUE TRUE ENSG00000146938.16 . BCM GRCh38.p13 chrX 5893158 5893158 + G G A Missense_Mutation SNP ENST00000381095.8 exon6 c.C2110T p.R704C exonic ENSG00000146938.16 . nonsynonymous SNV ENSG00000146938.16:ENST00000381095.8:exon6:c.C2110T:p.R704C Xp22.32 C3N-00436 1.14e-05 0 0 0 0 2.084e-05 0 0 rs751945904 13.19 D D D D N D L T D 0.568 D T D 0.437 . 0.723 2.465 D D T T D D 3.787 25.800 0.999 D . . . . . 0.979 . . . . . 3.810 3.810 6.579 1.006 0.676 1.000 0.944 0.873 1000 . . . ID=COSV52015100;OCCURENCE=1(breast),3(large_intestine),1(endometrium) NLGN4X 437 0 729 85 0.104422604422604 NA TRUE ENSG00000130032.17 . BCM GRCh38.p13 chrX 151700044 151700044 + G G A Missense_Mutation SNP ENST00000674457.1 exon3 c.G56A p.R19H exonic ENSG00000130032.17 . nonsynonymous SNV ENSG00000130032.17:ENST00000674457.1:exon3:c.G56A:p.R19H Xq28 C3N-00436 . . . . . . . . . 15.19 D D B B D D M D D 0.506 D D D 0.768 0.854 0.425 0.026 T T D D D D 2.911 23.200 0.998 D . . . . . 1.000 . . . . . 5.020 4.130 6.651 1.083 0.676 0.995 0.999 0.998 810 Gamma-carboxyglutamic_acid-rich_(GLA)_domain . . . PRRG3 110 0 198 16 0.0747663551401869 TRUE NA ENSG00000072518.20 . BCM GRCh38.p13 chr11 63895578 63895578 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000072518.20 ENST00000402010.6:exon3:c.235-2A>T . . 11q13.1 C3N-00436 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.438 34 0.993 D . 1.101 17.528 0.957 16.425 1.000 0.295 0.304 0.121 0.090 0.976 5.930 5.930 5.929 1.312 0.756 1.000 0.871 0.656 402 . . . . MARK2 316 0 479 41 0.0788461538461538 TRUE TRUE ENSG00000118200.14 . BCM GRCh38.p13 chr1 200847285 200847285 + A A C Silent SNP ENST00000236925.8 exon10 c.A1218C p.S406S exonic ENSG00000118200.14 . synonymous SNV ENSG00000118200.14:ENST00000236925.8:exon10:c.A1218C:p.S406S 1q32.1 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMSAP2 210 0 422 35 0.0765864332603939 TRUE TRUE ENSG00000172554.12 . BCM GRCh38.p13 chr2 1209111 1209111 + G G A Silent SNP ENST00000308624.10 exon9 c.G600A p.S200S exonic ENSG00000172554.12 . synonymous SNV ENSG00000172554.12:ENST00000308624.10:exon9:c.G600A:p.S200S 2p25.3 C3N-00436 0.0002 0 0 0.0021 0 5.999e-05 0 0 rs141600263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57967650;OCCURENCE=2(oesophagus),1(biliary_tract) SNTG2 205 0 311 32 0.0932944606413994 TRUE TRUE ENSG00000172752.14 . BCM GRCh38.p13 chr3 130391459 130391459 + C C T Silent SNP ENST00000265379.10 exon7 c.C2697T p.H899H exonic ENSG00000172752.14 . synonymous SNV ENSG00000172752.14:ENST00000265379.10:exon7:c.C2697T:p.H899H 3q22.1 C3N-00436 0.0155 0.0208 0.0049 0 0.0588 0.0228 0.0266 0.0076 rs148235459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55217935;OCCURENCE=1(large_intestine) COL6A5 319 0 568 51 0.0823909531502423 TRUE TRUE ENSG00000204392.11 . BCM GRCh38.p13 chr6 31797862 31797862 + G G A Silent SNP ENST00000375661.6 exon5 c.C183T p.F61F exonic ENSG00000204392.11 . synonymous SNV ENSG00000204392.11:ENST00000375661.6:exon5:c.C183T:p.F61F 6p21.33 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LSM2 344 0 542 57 0.0951585976627713 TRUE TRUE ENSG00000079841.18 . BCM GRCh38.p13 chr6 72290838 72290838 + G G A Silent SNP ENST00000521978.5 exon25 c.G3714A p.A1238A exonic ENSG00000079841.18 . synonymous SNV ENSG00000079841.18:ENST00000521978.5:exon25:c.G3714A:p.A1238A 6q13 C3N-00436 2.508e-05 0.0002 0 0 0 1.51e-05 0 0 rs373917034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53487652;OCCURENCE=1(large_intestine),1(stomach),1(lung) RIMS1 121 0 236 35 0.129151291512915 TRUE TRUE ENSG00000106443.16 . BCM GRCh38.p13 chr7 11042726 11042726 + T T C Silent SNP ENST00000403050.7 exon13 c.T2224C p.L742L exonic ENSG00000106443.16 . synonymous SNV ENSG00000106443.16:ENST00000403050.7:exon13:c.T2224C:p.L742L 7p21.3 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHF14 211 0 318 29 0.0835734870317003 TRUE TRUE ENSG00000147687.19 . BCM GRCh38.p13 chr8 124493916 124493916 + T T C Silent SNP ENST00000276692.11 exon11 c.A708G p.K236K exonic ENSG00000147687.19 . synonymous SNV ENSG00000147687.19:ENST00000276692.11:exon11:c.A708G:p.K236K 8q24.13 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TATDN1 178 0 270 28 0.0939597315436242 TRUE TRUE ENSG00000150347.16 . BCM GRCh38.p13 chr10 62092166 62092166 + G G A Silent SNP ENST00000279873.12 exon10 c.G2703A p.T901T exonic ENSG00000150347.16 . synonymous SNV ENSG00000150347.16:ENST00000279873.12:exon10:c.G2703A:p.T901T 10q21.2 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID5B 65 0 102 11 0.0973451327433628 TRUE NA ENSG00000198682.13 . BCM GRCh38.p13 chr10 87727408 87727408 + C C T Silent SNP ENST00000361175.8 exon8 c.C990T p.D330D exonic ENSG00000198682.13 . synonymous SNV ENSG00000198682.13:ENST00000361175.8:exon8:c.C990T:p.D330D 10q23.31 C3N-00436 1.655e-05 0 0 0 0 0 0.0022 0 rs183111777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63262646;OCCURENCE=1(breast) PAPSS2 599 0 960 92 0.0874524714828897 TRUE TRUE ENSG00000170953.3 . BCM GRCh38.p13 chr11 124543301 124543301 + C C T Silent SNP ENST00000306842.2 exon1 c.G354A p.A118A exonic ENSG00000170953.3 . synonymous SNV ENSG00000170953.3:ENST00000306842.2:exon1:c.G354A:p.A118A 11q24.2 C3N-00436 1.65e-05 9.615e-05 0 0 0 1.499e-05 0 0 rs764768343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60911867;OCCURENCE=1(large_intestine),2(prostate) OR8B12 200 0 344 34 0.0899470899470899 TRUE TRUE ENSG00000129219.14 . BCM GRCh38.p13 chr17 4816986 4816986 + G G A Silent SNP ENST00000263088.11 exon16 c.G1632A p.G544G exonic ENSG00000129219.14 . synonymous SNV ENSG00000129219.14:ENST00000263088.11:exon16:c.G1632A:p.G544G 17p13.2 C3N-00436 1.655e-05 9.632e-05 0 0 0 1.504e-05 0 0 rs774811005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLD2 139 0 243 19 0.0725190839694656 TRUE NA ENSG00000141458.13 . BCM GRCh38.p13 chr18 23551661 23551661 + T T C Silent SNP ENST00000269228.10 exon10 c.A1620G p.P540P exonic ENSG00000141458.13 . synonymous SNV ENSG00000141458.13:ENST00000269228.10:exon10:c.A1620G:p.P540P 18q11.2 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPC1 526 0 866 112 0.114519427402863 TRUE TRUE ENSG00000090889.12 . BCM GRCh38.p13 chrX 70405875 70405875 + G G A Silent SNP ENST00000374403.4 exon26 c.G2946A p.Q982Q exonic ENSG00000090889.12 . synonymous SNV ENSG00000090889.12:ENST00000374403.4:exon26:c.G2946A:p.Q982Q Xq13.1 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF4A 282 0 436 38 0.080168776371308 TRUE TRUE ENSG00000196440.11 . BCM GRCh38.p13 chrX 101490041 101490041 + C C G Silent SNP ENST00000423738.4 exon2 c.C1452G p.T484T exonic ENSG00000196440.11 . synonymous SNV ENSG00000196440.11:ENST00000423738.4:exon2:c.C1452G:p.T484T Xq22.1 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARMCX4 305 0 470 39 0.0766208251473477 TRUE TRUE ENSG00000198354.7 . BCM GRCh38.p13 chrX 126164901 126164901 + G G T Silent SNP ENST00000360028.4 exon1 c.C1024A p.R342R exonic ENSG00000198354.7 . synonymous SNV ENSG00000198354.7:ENST00000360028.4:exon1:c.C1024A:p.R342R Xq25 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCAF12L2 224 0 409 34 0.0767494356659142 TRUE TRUE ENSG00000198910.14 . BCM GRCh38.p13 chrX 153870399 153870399 + G G A Silent SNP ENST00000370060.7 exon8 c.C795T p.I265I exonic ENSG00000198910.14 . synonymous SNV ENSG00000198910.14:ENST00000370060.7:exon8:c.C795T:p.I265I Xq28 C3N-00436 3.466e-05 0 0 0 0 4.225e-05 0 9.923e-05 rs141383999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . L1CAM 505 1 828 76 0.084070796460177 TRUE NA ENSG00000158473.8 . BCM GRCh38.p13 chr1 158182402 158182402 + G G A Intron SNP NA NA NA NA intronic ENSG00000158473.8 . . . 1q23.1 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CD1D 107 0 190 12 0.0594059405940594 TRUE NA ENSG00000131508.16 . BCM GRCh38.p13 chr5 139562279 139562279 + G G A Intron SNP NA NA NA NA intronic ENSG00000131508.16 . . . 5q31.2 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBE2D2 225 0 392 37 0.0862470862470862 TRUE NA ENSG00000188385.12 . BCM GRCh38.p13 chr10 132168218 132168218 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000188385.12 ENST00000664697.1:c.*288G>A . . 10q26.3 C3N-00436 8.357e-05 0 0 0.0051 0 0 0 0 rs779013303 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JAKMIP3 191 0 309 44 0.124645892351275 TRUE NA ENSG00000279770.1 . BCM GRCh38.p13 chr13 113750681 113750681 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000279770.1 . . . 13q34 C3N-00436 . . . . . . . . rs933438975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00552 270 0 595 47 0.073208722741433 TRUE NA ENSG00000187483.9 . BCM GRCh38.p13 chr14 94644994 94644994 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000187483.9 . . . 14q32.13 C3N-00436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINA13P 196 0 272 35 0.11400651465798 TRUE NA ENSG00000173838.12 . BCM GRCh38.p13 chr17 62746904 62746904 + T T C Intron SNP NA NA NA NA intronic ENSG00000173838.12 . . . 17q23.2 C3N-00436 . . . . . . . . . 0.9 . T . . . N . T . 0.107 . . T . . 0.424 . . . T T . T 1.305 14.430 0.346 N N . . . . 0.978 0.487 0.574 0.547 0.542 . 3.450 -2.110 0.410 0.579 -0.279 0.000 0.001 0.000 607 . . . . MARCHF10 236 1 374 46 0.10952380952381 TRUE TRUE ENSG00000184611.12 . BCM GRCh38.p13 chr2 162517798 162517798 + G G A Missense_Mutation SNP ENST00000332142.10 exon4 c.C824T p.S275L exonic ENSG00000184611.12 . nonsynonymous SNV ENSG00000184611.12:ENST00000332142.10:exon4:c.C824T:p.S275L 2q24.2 C3L-00928 8.267e-06 0 0 0 0 1.504e-05 0 0 rs139430414 18.20 D D D D D D M D D 0.767 D D D 0.766 . 0.928 1.129 T T D D D D 4.095 27.700 0.999 D D 0.860 10.068 0.879 12.867 1.000 0.554 0.574 0.618 0.564 . 5.900 5.900 9.280 1.176 0.676 1.000 1.000 0.996 509 . . . ID=COSV59792617;OCCURENCE=2(skin),1(endometrium) KCNH7 123 0 198 25 0.112107623318386 TRUE TRUE ENSG00000153827.13 . BCM GRCh38.p13 chr2 229859381 229859381 + T T G Missense_Mutation SNP ENST00000283943.9 exon3 c.A292C p.T98P exonic ENSG00000153827.13 . nonsynonymous SNV ENSG00000153827.13:ENST00000283943.9:exon3:c.A292C:p.T98P 2q36.3 C3L-00928 . . . . . . . . . 4.20 T T B B N D N T D 0.122 T T T 0.204 0.082 0.314 0.658 T T T T T D 2.116 20.200 0.983 D N -0.395 1.394 -0.156 1.895 0.983 0.706 0.725 0.710 0.714 . 5.850 4.680 1.143 1.135 0.665 1.000 1.000 0.997 876 . . . . TRIP12 390 0 669 49 0.0682451253481894 TRUE TRUE ENSG00000134121.10 . BCM GRCh38.p13 chr3 361705 361705 + G G A Missense_Mutation SNP ENST00000397491.6 exon12 c.G1265A p.R422H exonic ENSG00000134121.10 . nonsynonymous SNV ENSG00000134121.10:ENST00000397491.6:exon12:c.G1265A:p.R422H 3p26.3 C3L-00928 7.419e-05 0.0002 0 0.0001 0 8.995e-05 0 0 rs759628440 2.19 D D B B N N . T N 0.186 T T T 0.085 . 0.208 0.012 T T T T T T 1.294 14.350 0.993 N N -0.861 0.571 -0.840 0.703 0.000 0.487 0.547 0.574 0.564 . 5.240 -1.030 0.357 -0.192 0.676 0.003 0.208 0.912 963 . . . ID=COSV56592328;OCCURENCE=3(large_intestine) CHL1 127 0 153 17 0.1 TRUE TRUE ENSG00000144771.8 . BCM GRCh38.p13 chr3 54918709 54918709 + G G A Missense_Mutation SNP ENST00000273286.6 exon3 c.C788T p.A263V exonic ENSG00000144771.8 . nonsynonymous SNV ENSG00000144771.8:ENST00000273286.6:exon3:c.C788T:p.A263V 3p14.3 C3L-00928 8.259e-06 0 8.673e-05 0 0 0 0 0 rs779554165 0.20 T T B B N N N T N 0.122 T T T 0.009 0.175 0.154 0.016 T T T T T T -1.315 0.001 0.796 N N -1.710 0.035 -1.719 0.047 1.000 0.487 0.574 0.547 0.564 . 4.790 -1.270 -1.983 -1.076 -2.424 0.000 0.000 0.000 754 . . . ID=COSV55513807;OCCURENCE=1(oesophagus),2(stomach) LRTM1 230 0 453 52 0.102970297029703 TRUE TRUE ENSG00000174963.17 . BCM GRCh38.p13 chr3 147391003 147391003 + G G A Missense_Mutation SNP ENST00000383075.7 exon4 c.C932T p.S311L exonic ENSG00000174963.17 . nonsynonymous SNV ENSG00000174963.17:ENST00000383075.7:exon4:c.C932T:p.S311L 3q24 C3L-00928 . . . . . . . . rs998956801 6.19 T T B B N . L T D 0.214 T T D 0.034 0.236 0.357 1.262 T T T T D D 3.015 23.400 0.997 D D -0.209 1.852 -0.066 2.147 1.000 0.437 0.590 0.607 0.530 . 5.180 4.290 5.274 0.245 0.676 1.000 0.796 0.994 899 . . . ID=COSV67172689;OCCURENCE=1(breast),1(pancreas) ZIC4 240 0 632 60 0.0867052023121387 TRUE TRUE ENSG00000214944.9 . BCM GRCh38.p13 chr5 73873056 73873056 + T T C Missense_Mutation SNP ENST00000513042.6 exon22 c.T2624C p.F875S exonic ENSG00000214944.9 . nonsynonymous SNV ENSG00000214944.9:ENST00000513042.6:exon22:c.T2624C:p.F875S 5q13.2 C3L-00928 . . . . . . . . . 16.19 D D D D . D M T D 0.957 D D D 0.878 0.851 0.883 0.549 T T D D D D 4.299 29.600 0.999 D D 0.833 9.455 0.784 9.664 1.000 0.707 0.588 0.618 0.714 . 5.540 5.540 4.936 1.138 0.665 1.000 1.000 1.000 888 Dbl_homology_(DH)_domain . . . ARHGEF28 303 0 548 33 0.0567986230636833 TRUE TRUE ENSG00000112852.7 . BCM GRCh38.p13 chr5 141097024 141097024 + G G A Missense_Mutation SNP ENST00000194155.7 exon1 c.G2234A p.G745E exonic ENSG00000112852.7 . nonsynonymous SNV ENSG00000112852.7:ENST00000194155.7:exon1:c.G2234A:p.G745E 5q31.3 C3L-00928 . . . . . . . . . 7.19 D D P B . D M T D 0.098 T T D 0.169 0.493 0.424 . T T T T T T 2.132 20.300 0.960 D N -0.252 1.736 -0.333 1.497 0.000 0.660 0.574 0.663 0.586 . 4.580 2.790 2.943 -0.548 -0.768 0.999 0.065 0.001 466 Cadherin,_cytoplasmic_C-terminal_domain . . . PCDHB2 216 0 507 44 0.0798548094373866 NA TRUE ENSG00000113263.13 . BCM GRCh38.p13 chr5 157244432 157244432 + A A G Missense_Mutation SNP ENST00000422843.8 exon13 c.A1403G p.E468G exonic ENSG00000113263.13 . nonsynonymous SNV ENSG00000113263.13:ENST00000422843.8:exon13:c.A1403G:p.E468G 5q33.3 C3L-00928 . . . . . . . . . 19.20 D D D D D D M D D 0.763 D D D 0.840 0.565 0.963 1.322 T D D D D D 4.288 29.500 0.999 D D 0.855 9.950 0.861 12.190 1.000 0.554 0.588 0.547 0.564 . 6.080 6.080 9.146 1.312 0.691 1.000 1.000 0.999 437 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . ITK 380 0 762 88 0.103529411764706 TRUE TRUE ENSG00000072803.17 . BCM GRCh38.p13 chr5 171876326 171876326 + C C T Missense_Mutation SNP ENST00000265094.9 exon8 c.G1117A p.D373N exonic ENSG00000072803.17 . nonsynonymous SNV ENSG00000072803.17:ENST00000265094.9:exon8:c.G1117A:p.D373N 5q35.1 C3L-00928 . . . . . . . . . 7.20 T T B B D D L T N 0.656 T T T 0.117 0.517 0.382 1.344 D T T T D D 2.808 23.000 0.998 D D -0.026 2.421 0.224 3.302 1.000 0.707 0.702 0.698 0.714 . 5.590 5.590 7.858 1.026 0.599 1.000 0.965 0.962 934 WD40-repeat-containing_domain . . ID=COSV51611631;OCCURENCE=1(large_intestine) FBXW11 249 0 707 48 0.0635761589403974 TRUE TRUE ENSG00000008083.14 . BCM GRCh38.p13 chr6 15513352 15513352 + - NA A Frame_Shift_Ins NA ENST00000341776.7 exon16 c.3381dupA p.W1129Vfs*58 exonic ENSG00000008083.14 . frameshift insertion ENSG00000008083.14:ENST00000341776.7:exon16:c.3381dupA:p.W1129Vfs*58 6p22.3 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JARID2 NA NA NA NA NA NA NA ENSG00000119508.18 . BCM GRCh38.p13 chr9 99833411 99833411 + G G A Missense_Mutation SNP ENST00000395097.7 exon5 c.G1211A p.R404Q exonic ENSG00000119508.18 . nonsynonymous SNV ENSG00000119508.18:ENST00000395097.7:exon5:c.G1211A:p.R404Q 9q31.1 C3L-00928 1.651e-05 0 0 0 0 3.004e-05 0 0 rs778148069 19.20 D D D D D D M D D 0.469 D D D 0.462 0.334 0.937 . T D D D D D 4.135 28.100 1.000 D D 0.845 9.729 0.848 11.702 1.000 0.516 0.588 0.577 0.530 . 5.710 5.710 7.808 1.176 0.676 1.000 1.000 0.991 809 Nuclear_hormone_receptor,_ligand-binding_domain . . ID=COSV58243692;OCCURENCE=1(large_intestine) NR4A3 228 0 321 23 0.0668604651162791 TRUE TRUE ENSG00000186881.3 . BCM GRCh38.p13 chr9 104504554 104504554 + G G A Missense_Mutation SNP ENST00000334726.3 exon1 c.G292A p.A98T exonic ENSG00000186881.3 . nonsynonymous SNV ENSG00000186881.3:ENST00000334726.3:exon1:c.G292A:p.A98T 9q31.1 C3L-00928 0.0001 0 8.637e-05 0 0 0.0002 0 0 rs143065377 3.20 D T P B N N M T D 0.093 T T T 0.074 . 0.366 0.033 T T T T T T 1.340 14.670 0.992 N N -0.034 2.391 -0.105 2.034 0.000 0.487 0.574 0.547 0.564 . 4.260 3.360 -0.286 1.175 0.676 0.000 0.969 0.966 595 GPCR,_rhodopsin-like,_7TM . . ID=COSV58251213;OCCURENCE=2(stomach),1(thyroid),1(upper_aerodigestive_tract) OR13F1 249 1 507 37 0.0680147058823529 TRUE TRUE ENSG00000165124.18 . BCM GRCh38.p13 chr9 110406765 110406765 + T T G Missense_Mutation SNP ENST00000374469.6 exon38 c.A8835C p.K2945N exonic ENSG00000165124.18 . nonsynonymous SNV ENSG00000165124.18:ENST00000374469.6:exon38:c.A8835C:p.K2945N 9q31.3 C3L-00928 . . . . . . . . . 4.17 . D P B D N L . . 0.205 T T T 0.094 0.491 0.043 0.424 T T T T D T 2.002 19.270 0.976 D N -0.240 1.767 -0.175 1.847 0.000 0.554 0.563 0.618 0.564 . 5.450 3.110 0.380 0.202 -0.188 0.998 1.000 0.992 969 Sushi/SCR/CCP_domain . . . SVEP1 174 0 314 37 0.105413105413105 TRUE TRUE ENSG00000107290.14 . BCM GRCh38.p13 chr9 132311818 132311818 + A A C Missense_Mutation SNP ENST00000224140.6 exon11 c.T5313G p.N1771K exonic ENSG00000107290.14 . nonsynonymous SNV ENSG00000107290.14:ENST00000224140.6:exon11:c.T5313G:p.N1771K 9q34.13 C3L-00928 . . . . . . . . . 2.20 T T B B N N N D N 0.093 T T D 0.252 0.487 0.407 0.085 T T T T T T 1.082 12.590 0.425 N N -0.873 0.554 -0.706 0.892 0.981 0.732 0.744 0.651 0.714 . 5.070 0.157 0.171 0.271 0.756 0.925 0.943 0.983 958 . . . . SETX 332 1 279 25 0.0822368421052632 TRUE TRUE ENSG00000149452.16 . BCM GRCh38.p13 chr11 62993328 62993328 + C C T Missense_Mutation SNP ENST00000336232.7 exon11 c.G1538A p.R513Q exonic ENSG00000149452.16 . nonsynonymous SNV ENSG00000149452.16:ENST00000336232.7:exon11:c.G1538A:p.R513Q 11q12.3 C3L-00928 0.0029 0.0002 8.856e-05 0 0.0120 0.0038 0.0068 6.217e-05 rs145474422 0.19 T T B B N N N T N 0.069 T T . 0.043 . 0.217 0.395 T T T T T T -0.452 0.149 0.587 N N -1.970 0.010 -2.077 0.009 1.000 0.487 0.563 0.574 0.542 . 5.250 -10.500 -5.000 -1.677 -0.924 0.000 0.000 0.008 804 . . . ID=COSV60327069;OCCURENCE=1(NS),1(haematopoietic_and_lymphoid_tissue) SLC22A8 146 0 447 37 0.0764462809917355 TRUE TRUE ENSG00000137672.13 . BCM GRCh38.p13 chr11 101491653 101491653 + G G A Missense_Mutation SNP ENST00000344327.8 exon3 c.C1031T p.A344V exonic ENSG00000137672.13 . nonsynonymous SNV ENSG00000137672.13:ENST00000344327.8:exon3:c.C1031T:p.A344V 11q22.1 C3L-00928 . . . . . . . . . 11.20 T T D D D D L T N 0.908 T T D 0.360 0.506 0.882 1.007 T T D D D D 4.096 27.700 0.998 D D 0.609 6.016 0.624 6.531 1.000 0.554 0.574 0.618 0.564 . 6.140 6.140 9.889 1.176 0.676 1.000 0.971 0.414 830 . . . . TRPC6 240 0 393 34 0.0796252927400468 TRUE TRUE ENSG00000184232.9 . BCM GRCh38.p13 chr11 120226939 120226939 + G G A Missense_Mutation SNP ENST00000328965.9 exon3 c.G490A p.E164K exonic ENSG00000184232.9 . nonsynonymous SNV ENSG00000184232.9:ENST00000328965.9:exon3:c.G490A:p.E164K 11q23.3 C3L-00928 8.309e-06 0 0 0.0001 0 0 0 0 rs748586285 14.20 D D D P D D M T D 0.834 T T D 0.392 . 0.608 1.496 T T D D D D 4.006 27.000 0.999 D D 0.719 7.399 0.656 6.999 1.000 0.635 0.634 0.686 0.646 . 5.430 5.430 9.602 1.176 0.676 1.000 0.328 0.461 389 . . . . OAF 118 0 192 16 0.0769230769230769 TRUE NA ENSG00000284680.1 . BCM GRCh38.p13 chr11 124382937 124382937 + A A G Missense_Mutation SNP ENST00000641451.1 exon2 c.T407C p.M136T exonic ENSG00000284680.1 . nonsynonymous SNV ENSG00000284680.1:ENST00000641451.1:exon2:c.T407C:p.M136T 11q24.2 C3L-00928 . . . . . . . . . 9.20 D D B B D D H T D 0.435 T T T 0.287 0.480 0.496 0.636 T T T T D T 2.944 23.300 0.983 D D 0.400 4.346 0.404 4.385 0.933 0.487 0.574 0.547 0.564 . 4.200 4.200 7.075 1.190 0.615 1.000 0.998 0.972 853 GPCR,_rhodopsin-like,_7TM . . . OR8B2 153 0 240 26 0.0977443609022556 NA TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-00928 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 293 0 361 35 0.0883838383838384 TRUE TRUE ENSG00000123104.12 . BCM GRCh38.p13 chr12 26398935 26398935 + T T A Missense_Mutation SNP ENST00000381340.8 exon54 c.A7637T p.D2546V exonic ENSG00000123104.12 . nonsynonymous SNV ENSG00000123104.12:ENST00000381340.8:exon54:c.A7637T:p.D2546V 12p11.23 C3L-00928 . . . . . . . . . 20.20 D D D D D D M D D 0.837 D D D 0.894 0.446 0.957 2.098 D D D D D D 4.514 32 0.993 D D 0.778 8.362 0.731 8.375 1.000 0.732 0.744 0.659 0.728 . 4.960 4.960 7.956 1.120 0.644 1.000 1.000 0.995 915 Ion_transport_domain . . . ITPR2 152 0 202 19 0.085972850678733 TRUE TRUE ENSG00000154237.13 . BCM GRCh38.p13 chr15 101066063 101066063 + G G A Missense_Mutation SNP ENST00000388948.8 exon32 c.G5626A p.E1876K exonic ENSG00000154237.13 . nonsynonymous SNV ENSG00000154237.13:ENST00000388948.8:exon32:c.G5626A:p.E1876K 15q26.3 C3L-00928 0.0001 0 0 0 0 0.0002 0 6.058e-05 rs369774424 7.19 D T D B N D M T N 0.613 T T D 0.282 . 0.886 0.680 T T T T T D 2.809 23.000 0.999 D . 0.433 4.552 0.430 4.576 1.000 0.707 0.702 0.659 0.714 . 5.610 5.610 5.729 1.176 0.676 1.000 0.166 0.096 870 . . . ID=COSV52601368;OCCURENCE=1(large_intestine),1(skin) LRRK1 291 0 767 72 0.0858164481525626 TRUE TRUE ENSG00000140691.17 . BCM GRCh38.p13 chr16 31459902 31459902 + - NA A Frame_Shift_Ins NA ENST00000268314.9 exon1 c.379dupA p.T128Dfs*59 exonic ENSG00000140691.17 . frameshift insertion ENSG00000140691.17:ENST00000268314.9:exon1:c.379dupA:p.T128Dfs*59 16p11.2 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARMC5 NA NA NA NA NA NA NA ENSG00000277363.5 . BCM GRCh38.p13 chr17 38561611 38561611 + C C T Missense_Mutation SNP ENST00000617146.5 exon7 c.G1552A p.V518I exonic ENSG00000277363.5 . nonsynonymous SNV ENSG00000277363.5:ENST00000617146.5:exon7:c.G1552A:p.V518I 17q12 C3L-00928 . . . . . . . . . 6.12 . T . . D D . . . 0.277 T T T 0.125 . 0.546 . D . T T D . 3.081 23.600 0.998 D D 0.476 4.854 0.377 4.200 1.000 0.598 0.627 0.504 0.639 . 4.740 3.760 4.793 0.962 0.524 0.996 0.906 0.352 193 . . . . SRCIN1 76 1 284 27 0.0868167202572347 TRUE TRUE ENSG00000129932.10 . BCM GRCh38.p13 chr19 3496726 3496726 + G G A Missense_Mutation SNP ENST00000427575.6 exon2 c.C89T p.T30M exonic ENSG00000129932.10 . nonsynonymous SNV ENSG00000129932.10:ENST00000427575.6:exon2:c.C89T:p.T30M 19p13.3 C3L-00928 2.53e-05 0.0001 0 0 0 1.54e-05 0 6.083e-05 rs368504297 11.19 T D D D D D M . D 0.770 T T D 0.394 . 0.457 0.617 T T T T T D 3.246 24.000 0.998 D D 0.451 4.677 0.304 3.742 1.000 0.707 0.702 0.725 0.714 . 4.280 3.190 7.280 1.164 0.662 1.000 0.667 0.558 952 . . . . DOHH 237 0 699 68 0.0886571056062582 TRUE NA ENSG00000198028.4 . BCM GRCh38.p13 chr19 9466585 9466585 + T T C Missense_Mutation SNP ENST00000301480.5 exon10 c.A2362G p.K788E exonic ENSG00000198028.4 . nonsynonymous SNV ENSG00000198028.4:ENST00000301480.5:exon10:c.A2362G:p.K788E 19p13.2 C3L-00928 . . . . . . . . . 2.19 D D P P . N L T N 0.087 T T T 0.038 0.515 0.211 0.064 T T T T T T 1.965 18.990 0.905 N N -0.614 0.962 -0.875 0.654 0.000 0.487 0.574 0.574 0.564 . 2.020 -0.443 -0.443 0.788 0.566 0.000 0.163 0.375 952 Zinc_finger_C2H2-type . . . ZNF560 62 0 60 7 0.104477611940299 TRUE TRUE ENSG00000179954.16 . BCM GRCh38.p13 chr19 55518829 55518829 + G G A Missense_Mutation SNP ENST00000389623.11 exon14 c.G4553A p.R1518H exonic ENSG00000179954.16 . nonsynonymous SNV ENSG00000179954.16:ENST00000389623.11:exon14:c.G4553A:p.R1518H 19q13.42 C3L-00928 . . . . . . . . rs748017648 1.19 D T B B . N N T N 0.159 T T T 0.043 . 0.120 0.015 T T T T T T 2.052 19.650 0.608 N N -0.734 0.756 -0.628 1.004 0.999 0.554 0.588 0.604 0.568 . 3.410 0.905 0.937 0.224 -0.211 0.438 0.982 0.744 958 . . . ID=COSV67476898;OCCURENCE=1(large_intestine) SSC5D 357 0 845 93 0.0991471215351812 TRUE TRUE ENSG00000087460.25 . BCM GRCh38.p13 chr20 58895657 58895657 + T T G Missense_Mutation SNP ENST00000371100.8 exon2 c.T2114G p.I705S exonic ENSG00000087460.25 . nonsynonymous SNV ENSG00000087460.25:ENST00000371100.8:exon2:c.T2114G:p.I705S 20q13.32 C3L-00928 . . . . . . . . . 20.20 D D D D D D H D D 0.946 D D D 0.944 0.806 0.998 1.519 D D D D D D 4.611 32 0.995 D D 0.648 6.453 0.656 6.996 1.000 0.646 0.672 0.672 0.723 . 5.630 5.630 7.674 1.138 0.609 1.000 1.000 0.999 986 . . . . GNAS 297 2 393 35 0.0817757009345794 TRUE TRUE ENSG00000170214.5 . BCM GRCh38.p13 chr5 159971877 159971877 + A A C Splice_Site SNP NA NA NA NA splicing ENSG00000170214.5 ENST00000306675.5:exon2:c.950-2A>C . . 5q33.3 C3L-00928 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.070 35 0.993 D . 1.049 15.527 0.872 12.617 1.000 0.167 0.110 0.182 0.109 0.809 4.560 4.560 8.646 1.187 0.733 1.000 0.994 0.961 923 . . . . ADRA1B 18 1 41 7 0.145833333333333 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673534 7673534 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon9:c.993+1G>A . . 17p13.1 C3L-00928 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.717 32 0.992 D . 0.909 11.283 0.710 7.951 1.000 0.284 0.279 0.217 0.082 0.971 4.410 4.410 2.328 1.012 0.596 1.000 0.988 0.907 435 . . . ID=COSV52699909;OCCURENCE=1(salivary_gland),13(breast),5(oesophagus),8(large_intestine),6(ovary),5(haematopoietic_and_lymphoid_tissue),3(stomach),1(urinary_tract),1(kidney),1(soft_tissue),4(pancreas),1(skin),3(lung),3(upper_aerodigestive_tract) TP53 361 0 491 41 0.0770676691729323 TRUE TRUE ENSG00000184144.12 . BCM GRCh38.p13 chr1 205069850 205069850 + C C T Silent SNP ENST00000331830.7 exon18 c.C2220T p.N740N exonic ENSG00000184144.12 . synonymous SNV ENSG00000184144.12:ENST00000331830.7:exon18:c.C2220T:p.N740N 1q32.1 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTN2 147 0 375 37 0.0898058252427184 TRUE TRUE ENSG00000168542.16 . BCM GRCh38.p13 chr2 189009052 189009052 + G G A Silent SNP ENST00000304636.9 exon48 c.G3654A p.P1218P exonic ENSG00000168542.16 . synonymous SNV ENSG00000168542.16:ENST00000304636.9:exon48:c.G3654A:p.P1218P 2q32.2 C3L-00928 3.295e-05 0 0 0.0002 0 2.997e-05 0 0 rs35759441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58591332;OCCURENCE=1(central_nervous_system),1(stomach) COL3A1 236 0 447 32 0.0668058455114822 TRUE TRUE ENSG00000144460.12 . BCM GRCh38.p13 chr2 225513647 225513647 + C C T Silent SNP ENST00000636099.1 exon4 c.C498T p.S166S exonic ENSG00000144460.12 . synonymous SNV ENSG00000144460.12:ENST00000636099.1:exon4:c.C498T:p.S166S 2q36.3 C3L-00928 0.0022 0.0221 0.0007 0.0005 0 0.0001 0.0026 0.0008 rs61738635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55997451;OCCURENCE=1(breast) NYAP2 24 0 79 5 0.0595238095238095 TRUE TRUE ENSG00000158683.8 . BCM GRCh38.p13 chr7 47829494 47829494 + T T C Silent SNP ENST00000289672.6 exon44 c.A6666G p.E2222E exonic ENSG00000158683.8 . synonymous SNV ENSG00000158683.8:ENST00000289672.6:exon44:c.A6666G:p.E2222E 7p12.3 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKD1L1 155 0 313 28 0.0821114369501466 TRUE TRUE ENSG00000169398.19 . BCM GRCh38.p13 chr8 140818322 140818322 + G G T Silent SNP ENST00000522684.5 exon10 c.C822A p.I274I exonic ENSG00000169398.19 . synonymous SNV ENSG00000169398.19:ENST00000522684.5:exon10:c.C822A:p.I274I 8q24.3 C3L-00928 1.648e-05 9.614e-05 0 0 0 1.499e-05 0 0 rs758593102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTK2 244 0 436 32 0.0683760683760684 TRUE NA ENSG00000130635.16 . BCM GRCh38.p13 chr9 134728723 134728723 + C C T Silent SNP ENST00000371817.8 exon6 c.C840T p.Y280Y exonic ENSG00000130635.16 . synonymous SNV ENSG00000130635.16:ENST00000371817.8:exon6:c.C840T:p.Y280Y 9q34.3 C3L-00928 8.245e-06 0 0 0 0 0 0 6.056e-05 rs765347784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65669270;OCCURENCE=2(large_intestine),1(prostate) COL5A1 342 0 728 59 0.0749682337992376 TRUE TRUE ENSG00000187609.16 . BCM GRCh38.p13 chr9 137351110 137351110 + C C T Silent SNP ENST00000340951.9 exon14 c.G1422A p.T474T exonic ENSG00000187609.16 . synonymous SNV ENSG00000187609.16:ENST00000340951.9:exon14:c.G1422A:p.T474T 9q34.3 C3L-00928 0.0009 0.0003 0.0027 0 0 0.0010 0.004 0.0006 rs370478324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXD3 171 0 465 36 0.0718562874251497 TRUE NA ENSG00000183049.12 . BCM GRCh38.p13 chr10 12814201 12814201 + C C T Silent SNP ENST00000619168.4 exon7 c.C648T p.C216C exonic ENSG00000183049.12 . synonymous SNV ENSG00000183049.12:ENST00000619168.4:exon7:c.C648T:p.C216C 10p13 C3L-00928 0.0002 0.0010 0.0002 0 0 0.0002 0 0.0002 rs137946643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMK1D 66 0 161 13 0.0747126436781609 TRUE NA ENSG00000148600.15 . BCM GRCh38.p13 chr10 84211033 84211033 + G G A Silent SNP ENST00000623527.4 exon13 c.G1353A p.K451K exonic ENSG00000148600.15 . synonymous SNV ENSG00000148600.15:ENST00000623527.4:exon13:c.G1353A:p.K451K 10q23.1 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDHR1 318 0 685 74 0.0974967061923584 TRUE TRUE ENSG00000197674.7 . BCM GRCh38.p13 chr11 4691529 4691529 + G G A Silent SNP ENST00000641159.1 exon2 c.C168T p.H56H exonic ENSG00000197674.7 . synonymous SNV ENSG00000197674.7:ENST00000641159.1:exon2:c.C168T:p.H56H 11p15.4 C3L-00928 . . . . . . . . rs193262556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR51C1P 86 0 167 14 0.0773480662983425 TRUE NA ENSG00000149972.11 . BCM GRCh38.p13 chr11 99844955 99844955 + C C A Silent SNP ENST00000524871.6 exon5 c.C381A p.G127G exonic ENSG00000149972.11 . synonymous SNV ENSG00000149972.11:ENST00000524871.6:exon5:c.C381A:p.G127G 11q22.1 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTN5 80 0 85 9 0.0957446808510638 TRUE NA ENSG00000126561.16 . BCM GRCh38.p13 chr17 42289927 42289927 + C C T Silent SNP ENST00000345506.8 exon4 c.C190T p.L64L exonic ENSG00000126561.16 . synonymous SNV ENSG00000126561.16:ENST00000345506.8:exon4:c.C190T:p.L64L 17q21.2 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAT5A 84 0 189 15 0.0735294117647059 TRUE NA ENSG00000120094.9 . BCM GRCh38.p13 chr17 48530617 48530617 + A A T Silent SNP ENST00000239174.7 exon1 c.T288A p.S96S exonic ENSG00000120094.9 . synonymous SNV ENSG00000120094.9:ENST00000239174.7:exon1:c.T288A:p.S96S 17q21.32 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXB1 217 0 622 50 0.0744047619047619 TRUE TRUE ENSG00000267680.5 . BCM GRCh38.p13 chr19 44107229 44107229 + C C A Silent SNP ENST00000336976.10 exon6 c.C1069A p.R357R exonic ENSG00000267680.5 . synonymous SNV ENSG00000267680.5:ENST00000336976.10:exon6:c.C1069A:p.R357R 19q13.31 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF224 44 0 27 3 0.1 TRUE NA ENSG00000267680.5 . BCM GRCh38.p13 chr19 44108137 44108137 + G G A Silent SNP ENST00000336976.10 exon6 c.G1977A p.K659K exonic ENSG00000267680.5 . synonymous SNV ENSG00000267680.5:ENST00000336976.10:exon6:c.G1977A:p.K659K 19q13.31 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF224 267 0 429 39 0.0833333333333333 NA TRUE ENSG00000220575.8 . BCM GRCh38.p13 chr7 155070325 155070325 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000220575.8 . . . 7q36.2 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HTR5A-AS1 68 1 213 16 0.0698689956331878 TRUE NA ENSG00000147457.14 . BCM GRCh38.p13 chr8 23248184 23248184 + C C G Intron SNP NA NA NA NA intronic ENSG00000147457.14 . . . 8p21.3 C3L-00928 . . . . . . . . . 2.13 D D . . . N . . N . T T . 0.033 0.273 0.123 . . T T T T T 0.854 9.939 0.869 N N -0.561 1.059 -0.741 0.841 0.999 0.493 0.587 0.537 0.323 . 3.090 -1.080 -0.197 0.128 -0.182 0.003 0.172 0.112 760 . . . . CHMP7 174 0 401 30 0.0696055684454756 TRUE TRUE ENSG00000139636.15 . BCM GRCh38.p13 chr12 49109754 49109754 + C C T Intron SNP NA NA NA NA intronic ENSG00000139636.15 . . . 12q13.12 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LMBR1L 142 0 257 25 0.0886524822695035 TRUE NA ENSG00000179242.16 . BCM GRCh38.p13 chr20 61499483 61499483 + T T A Intron SNP NA NA NA NA intronic ENSG00000179242.16 . . . 20q13.33 C3L-00928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH4 150 0 340 26 0.0710382513661202 TRUE NA ENSG00000162426.14 . BCM GRCh38.p13 chr1 8324438 8324438 + C C T Nonsense_Mutation SNP ENST00000471889.5 exon2 c.C211T p.R71X exonic ENSG00000162426.14 . stopgain ENSG00000162426.14:ENST00000471889.5:exon2:c.C211T:p.R71X 1p36.23 C3L-01124 . . . . . . . . . 4.6 . . . . N A . . . 0.247 . . . . . . . . . D D . . 6.300 35 0.998 D N 0.493 4.984 0.268 3.538 0.997 0.554 0.610 0.576 0.621 . 4.340 3.410 2.981 0.088 0.549 0.988 0.525 0.681 909 . . . ID=COSV57096740;OCCURENCE=1(stomach),1(pancreas),1(skin) SLC45A1 451 0 419 35 0.0770925110132159 TRUE TRUE ENSG00000163568.15 . BCM GRCh38.p13 chr1 159066271 159066271 + C C T Missense_Mutation SNP ENST00000368130.9 exon4 c.G455A p.R152H exonic ENSG00000163568.15 . nonsynonymous SNV ENSG00000163568.15:ENST00000368130.9:exon4:c.G455A:p.R152H 1q23.1 C3L-01124 1.652e-05 0 0 0.0001 0 0 0 6.061e-05 rs144121944 1.19 D T B B . N N T N 0.102 T T T 0.019 . 0.371 0.293 T T T T T T -0.345 0.251 0.853 N N -1.665 0.042 -1.750 0.042 1.000 0.757 0.858 0.659 0.613 . 3.130 -5.410 -1.010 -1.442 -2.038 0.000 0.000 0.001 917 HIN-200/IF120x . . . AIM2 168 0 133 9 0.0633802816901408 TRUE NA ENSG00000120332.16 . BCM GRCh38.p13 chr1 175135857 175135857 + C C T Missense_Mutation SNP ENST00000239462.9 exon16 c.C3343T p.R1115W exonic ENSG00000120332.16 . nonsynonymous SNV ENSG00000120332.16:ENST00000239462.9:exon16:c.C3343T:p.R1115W 1q25.1 C3L-01124 2.471e-05 9.61e-05 0 0 0 2.997e-05 0 0 rs546877646 18.20 D D D D D D H D D 0.914 D D D 0.855 0.925 0.983 0.502 T T D D D D 3.925 26.500 0.999 D D 0.711 7.270 0.543 5.580 0.033 0.497 0.590 0.547 0.542 . 5.650 2.540 0.633 1.026 0.599 0.994 1.000 0.996 684 Fibrinogen,_alpha/beta/gamma_chain,_C-terminal_globular_domain . . ID=COSV53435922;OCCURENCE=2(large_intestine) TNN 298 0 221 31 0.123015873015873 TRUE TRUE ENSG00000123612.16 . BCM GRCh38.p13 chr2 157556209 157556209 + T T C Missense_Mutation SNP ENST00000243349.13 exon3 c.A428G p.Y143C exonic ENSG00000123612.16 . nonsynonymous SNV ENSG00000123612.16:ENST00000243349.13:exon3:c.A428G:p.Y143C 2q24.1 C3L-01124 . . . . . . . . . 4.20 T T B B N N L D D 0.365 T D D 0.166 0.344 0.909 0.798 T T T T T T 1.788 17.650 0.943 N N -0.638 0.920 -0.604 1.040 0.000 0.554 0.574 0.602 0.564 . 5.640 4.480 0.610 -0.153 0.605 0.001 0.000 0.949 694 . . . . ACVR1C 325 0 310 26 0.0773809523809524 TRUE TRUE ENSG00000128683.14 . BCM GRCh38.p13 chr2 170858873 170858873 + C C T Nonsense_Mutation SNP ENST00000358196.8 exon16 c.C1591T p.R531X exonic ENSG00000128683.14 . stopgain ENSG00000128683.14:ENST00000358196.8:exon16:c.C1591T:p.R531X 2q31.1 C3L-01124 8.266e-06 9.628e-05 0 0 0 0 0 0 rs745595462 5.6 . . . . D D . . . 0.939 . . . . . . . . . D D . . 7.924 40 0.998 D N 0.916 11.484 0.795 9.963 0.996 0.554 0.588 0.618 0.530 . 5.630 4.670 5.242 1.026 0.599 1.000 0.997 0.957 446 . . . . GAD1 524 0 444 41 0.0845360824742268 TRUE NA ENSG00000196950.14 . BCM GRCh38.p13 chr2 195680815 195680815 + G G A Missense_Mutation SNP ENST00000359634.10 exon2 c.G773A p.G258D exonic ENSG00000196950.14 . nonsynonymous SNV ENSG00000196950.14:ENST00000359634.10:exon2:c.G773A:p.G258D 2q32.3 C3L-01124 . . . . . . . . . 2.20 T T B B N D N T N 0.237 T T T 0.146 0.156 0.231 0.287 T T T T T T 2.052 19.650 0.990 D N -0.315 1.577 -0.135 1.950 0.100 0.707 0.654 0.702 0.714 . 4.820 3.920 1.583 1.089 0.618 1.000 0.999 0.998 910 . . . . SLC39A10 205 0 168 13 0.0718232044198895 TRUE TRUE ENSG00000115524.17 . BCM GRCh38.p13 chr2 197401887 197401887 + C C T Missense_Mutation SNP ENST00000335508.11 exon16 c.G2225A p.G742D exonic ENSG00000115524.17 . nonsynonymous SNV ENSG00000115524.17:ENST00000335508.11:exon16:c.G2225A:p.G742D 2q33.1 C3L-01124 1.665e-05 0 0 0 0 3.02e-05 0 0 rs755415626 15.20 T T D P D D M T D 0.874 D T D 0.535 0.483 0.747 2.960 D D D D D D 3.255 24.000 0.997 D D 0.630 6.239 0.562 5.781 1.000 0.707 0.702 0.725 0.711 . 5.710 4.830 7.847 0.966 0.530 1.000 1.000 0.975 615 . . . ID=COSV59205440;OCCURENCE=1(breast),2(cervix),61(haematopoietic_and_lymphoid_tissue),1(kidney),2(lung) SF3B1 107 0 75 5 0.0625 NA TRUE ENSG00000113360.16 . BCM GRCh38.p13 chr5 31526173 31526173 + G G A Missense_Mutation SNP ENST00000511367.6 exon4 c.C760T p.R254C exonic ENSG00000113360.16 . nonsynonymous SNV ENSG00000113360.16:ENST00000511367.6:exon4:c.C760T:p.R254C 5p13.3 C3L-01124 3.323e-05 0 0 0.0001 0 3.003e-05 0 6.128e-05 rs761643386 7.20 D D B B D D L T D 0.539 T T T 0.091 . 0.497 0.259 T T T T T D 3.139 23.700 0.996 D N -0.154 2.010 0.018 2.422 1.000 0.707 0.725 0.725 0.714 . 4.450 4.450 1.405 1.083 0.676 1.000 0.988 0.987 728 . . . . DROSHA 188 0 145 11 0.0705128205128205 TRUE NA ENSG00000111817.19 . BCM GRCh38.p13 chr6 116437103 116437103 + C C G Missense_Mutation SNP ENST00000644252.3 exon6 c.C2635G p.R879G exonic ENSG00000111817.19 . nonsynonymous SNV ENSG00000111817.19:ENST00000644252.3:exon6:c.C2635G:p.R879G 6q22.1 C3L-01124 . . . . . . . . . 1.20 T D B B N N L T N 0.077 T T T 0.050 . 0.331 0.329 T T T T T T 1.777 17.560 0.954 N N -0.742 0.744 -0.684 0.923 0.963 0.732 0.702 0.644 0.728 . 5.940 4.100 2.393 0.088 0.599 0.049 0.139 0.167 471 . . . . DSE 197 0 140 9 0.0604026845637584 TRUE NA ENSG00000146350.14 . BCM GRCh38.p13 chr6 121292086 121292086 + T T G Missense_Mutation SNP ENST00000398212.7 exon12 c.A1339C p.K447Q exonic ENSG00000146350.14 . nonsynonymous SNV ENSG00000146350.14:ENST00000398212.7:exon12:c.A1339C:p.K447Q 6q22.31 C3L-01124 . . . . . . . . . 8.19 T D B B D D M T N 0.271 T T T 0.052 0.326 0.230 0.134 . T T T D D 2.433 22.200 0.982 D D -0.075 2.256 0.082 2.663 0.011 0.554 0.588 0.547 0.621 . 5.900 4.740 4.357 0.170 0.665 1.000 0.988 0.999 743 . . . . TBC1D32 87 0 45 4 0.0816326530612245 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01124 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 292 0 251 25 0.0905797101449275 TRUE TRUE ENSG00000139915.21 . BCM GRCh38.p13 chr14 47144182 47144182 + C C A Missense_Mutation SNP ENST00000399232.8 exon4 c.G688T p.A230S exonic ENSG00000139915.21 . nonsynonymous SNV ENSG00000139915.21:ENST00000399232.8:exon4:c.G688T:p.A230S 14q21.3 C3L-01124 . . . . . . . . . 8.19 T . B B U D M T N . T T T 0.159 0.690 0.168 . D T D D D T 2.341 21.800 0.995 D D 0.256 3.561 0.421 4.508 1.000 0.487 0.574 0.574 0.564 . 5.730 5.730 5.769 1.008 0.549 1.000 0.958 0.977 832 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV62077732;OCCURENCE=1(liver) MDGA2 126 0 113 7 0.0583333333333333 TRUE TRUE ENSG00000039523.20 . BCM GRCh38.p13 chr16 67540120 67540120 + G G A Missense_Mutation SNP ENST00000379312.7 exon7 c.G494A p.R165H exonic ENSG00000039523.20 . nonsynonymous SNV ENSG00000039523.20:ENST00000379312.7:exon7:c.G494A:p.R165H 16q22.1 C3L-01124 3.297e-05 0 0.0003 0 0 0 0 6.056e-05 rs369864235 8.19 T D D P D D . T D 0.511 T T D 0.093 . 0.177 1.639 T T T T T D 4.048 27.300 0.999 D N 0.412 4.416 0.442 4.667 1.000 0.722 0.698 0.494 0.735 . 5.140 4.170 3.847 1.176 0.618 1.000 1.000 0.991 28 FAM65,_N-terminal . . . RIPOR1 344 0 315 29 0.0843023255813953 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673764 7673764 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G856A p.E286K exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G856A:p.E286K 17p13.1 C3L-01124 . . . . . . . . rs786201059 19.20 D D D D D D M D D 0.904 D D D 0.949 0.916 0.988 0.398 T D D D D D 4.292 29.500 0.999 D D 0.816 9.100 0.714 8.022 0.999 0.722 0.702 0.725 0.735 . 4.990 4.990 7.905 1.022 0.596 1.000 0.056 0.987 432 p53,_DNA-binding_domain . . ID=COSV52664318;OCCURENCE=17(breast),4(liver),18(oesophagus),3(adrenal_gland),22(large_intestine),5(central_nervous_system),3(biliary_tract),5(ovary),3(vulva),1(NS),9(haematopoietic_and_lymphoid_tissue),7(stomach),9(urinary_tract),3(soft_tissue),2(pancreas),29(skin),1(prostate),11(lung),2(thyroid),20(upper_aerodigestive_tract),2(small_intestine) TP53 693 0 582 51 0.0805687203791469 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51058136 51058137 + AG AG - Frame_Shift_Del DEL ENST00000342988.8 exon6 c.679_680del p.S227Yfs*7 exonic ENSG00000141646.14 . frameshift deletion ENSG00000141646.14:ENST00000342988.8:exon6:c.679_680del:p.S227Yfs*7 18q21.2 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMAD4 357 0 276 28 0.0921052631578947 TRUE TRUE ENSG00000072958.8 . BCM GRCh38.p13 chr19 16226520 16226520 + G G A Missense_Mutation SNP ENST00000291439.7 exon6 c.G646A p.D216N exonic ENSG00000072958.8 . nonsynonymous SNV ENSG00000072958.8:ENST00000291439.7:exon6:c.G646A:p.D216N 19p13.11 C3L-01124 . . . . . . . . . 14.20 D D D D D D M T D 0.865 T T D 0.414 0.890 0.786 2.182 D T T T D D 4.341 29.900 0.999 D D 0.695 7.043 0.622 6.504 1.000 0.706 0.702 0.710 0.714 . 3.970 3.970 9.640 1.083 0.676 1.000 0.884 0.975 946 Mu_homology_domain . . . AP1M1 129 0 95 9 0.0865384615384615 TRUE NA ENSG00000131941.8 . BCM GRCh38.p13 chr19 33011712 33011712 + G G A Missense_Mutation SNP ENST00000254260.8 exon6 c.C560T p.P187L exonic ENSG00000131941.8 . nonsynonymous SNV ENSG00000131941.8:ENST00000254260.8:exon6:c.C560T:p.P187L 19q13.11 C3L-01124 . . . . . . . . . 12.20 D D D P D D M T D 0.583 T T D 0.375 0.407 0.672 1.037 T T T T D D 3.824 25.900 0.999 D D 0.778 8.365 0.717 8.081 1.000 0.707 0.654 0.725 0.655 . 4.890 4.890 9.754 1.174 0.676 1.000 0.534 0.317 856 BRO1_domain . . . RHPN2 588 1 573 40 0.065252854812398 NA TRUE ENSG00000170638.9 . BCM GRCh38.p13 chr22 50194351 50194351 + G G A Missense_Mutation SNP ENST00000303434.8 exon4 c.G124A p.A42T exonic ENSG00000170638.9 . nonsynonymous SNV ENSG00000170638.9:ENST00000303434.8:exon4:c.G124A:p.A42T 22q13.33 C3L-01124 6.037e-05 0 0 0 0 0.0001 0 0 rs747329304 3.19 T T B B D D L . N 0.296 T T T 0.052 0.188 0.110 0.330 T T T T T T 3.394 24.400 0.998 D N -0.046 2.351 0.108 2.766 1.000 0.722 0.699 0.723 0.714 . 5.270 5.270 5.828 1.144 0.658 1.000 0.273 0.375 693 . . . . TRABD 159 1 146 13 0.0817610062893082 TRUE NA ENSG00000197915.7 . BCM GRCh38.p13 chr1 152220351 152220351 + G G A Silent SNP ENST00000368801.4 exon3 c.C1278T p.H426H exonic ENSG00000197915.7 . synonymous SNV ENSG00000197915.7:ENST00000368801.4:exon3:c.C1278T:p.H426H 1q21.3 C3L-01124 0.0058 0.0629 0.0020 0 0 0.0002 0.0022 0.0004 rs11204936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64261077;OCCURENCE=1(oesophagus),1(large_intestine) HRNR 666 0 577 38 0.0617886178861789 TRUE TRUE ENSG00000163531.15 . BCM GRCh38.p13 chr1 205016380 205016380 + C C T Silent SNP ENST00000339876.10 exon30 c.C3564T p.D1188D exonic ENSG00000163531.15 . synonymous SNV ENSG00000163531.15:ENST00000339876.10:exon30:c.C3564T:p.D1188D 1q32.1 C3L-01124 5.765e-05 0 0 0.0006 0 1.498e-05 0.0011 0 rs765412087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFASC 305 0 278 21 0.0702341137123746 TRUE NA ENSG00000143643.13 . BCM GRCh38.p13 chr1 230906977 230906977 + C C A Silent SNP ENST00000366661.9 exon23 c.G2511T p.T837T exonic ENSG00000143643.13 . synonymous SNV ENSG00000143643.13:ENST00000366661.9:exon23:c.G2511T:p.T837T 1q42.2 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC13 93 0 71 4 0.0533333333333333 TRUE TRUE ENSG00000012171.20 . BCM GRCh38.p13 chr3 50275358 50275358 + C C T Silent SNP ENST00000616701.5 exon14 c.C1548T p.C516C exonic ENSG00000012171.20 . synonymous SNV ENSG00000012171.20:ENST00000616701.5:exon14:c.C1548T:p.C516C 3p21.31 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEMA3B 193 0 148 8 0.0512820512820513 TRUE TRUE ENSG00000169862.19 . BCM GRCh38.p13 chr5 11117555 11117555 + C C T Silent SNP ENST00000304623.13 exon13 c.G2172A p.S724S exonic ENSG00000169862.19 . synonymous SNV ENSG00000169862.19:ENST00000304623.13:exon13:c.G2172A:p.S724S 5p15.2 C3L-01124 8.243e-06 0 0 0 0 1.5e-05 0 0 rs775044101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTNND2 229 0 210 12 0.0540540540540541 TRUE NA ENSG00000038427.16 . BCM GRCh38.p13 chr5 83541625 83541625 + G G A Silent SNP ENST00000265077.8 exon8 c.G8622A p.A2874A exonic ENSG00000038427.16 . synonymous SNV ENSG00000038427.16:ENST00000265077.8:exon8:c.G8622A:p.A2874A 5q14.3 C3L-01124 0.0038 0.0401 0.0032 0 0 0.0001 0.0022 6.062e-05 rs3096171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VCAN 196 1 134 12 0.0821917808219178 TRUE NA ENSG00000185274.12 . BCM GRCh38.p13 chr7 71415935 71415935 + C C T Silent SNP ENST00000333538.10 exon4 c.C636T p.P212P exonic ENSG00000185274.12 . synonymous SNV ENSG00000185274.12:ENST00000333538.10:exon4:c.C636T:p.P212P 7q11.22 C3L-01124 2.485e-05 9.647e-05 8.658e-05 0.0001 0 0 0 0 rs371536707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GALNT17 73 0 71 11 0.134146341463415 TRUE NA ENSG00000175877.4 . BCM GRCh38.p13 chr7 73865421 73865421 + G G A Silent SNP ENST00000320531.3 exon2 c.G501A p.K167K exonic ENSG00000175877.4 . synonymous SNV ENSG00000175877.4:ENST00000320531.3:exon2:c.G501A:p.K167K 7q11.23 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM270 105 0 63 10 0.136986301369863 TRUE TRUE ENSG00000196275.14 . BCM GRCh38.p13 chr7 74797727 74797727 + G G T Silent SNP ENST00000451013.6 exon16 c.C1785A p.I595I exonic ENSG00000196275.14 . synonymous SNV ENSG00000196275.14:ENST00000451013.6:exon16:c.C1785A:p.I595I 7q11.23 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63100034;OCCURENCE=3(endometrium) GTF2IRD2 229 0 168 18 0.0967741935483871 NA TRUE ENSG00000283787.1 . BCM GRCh38.p13 chr11 1890342 1890342 + C C T Silent SNP ENST00000640310.1 exon1 c.G243A p.P81P exonic ENSG00000283787.1 . synonymous SNV ENSG00000283787.1:ENST00000640310.1:exon1:c.G243A:p.P81P 11p15.5 C3L-01124 . . . . . . . . rs866562938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100289020;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) PRR33 138 0 136 8 0.0555555555555556 TRUE NA ENSG00000171817.17 . BCM GRCh38.p13 chr19 37611925 37611925 + T T C Silent SNP ENST00000316433.9 exon5 c.T645C p.C215C exonic ENSG00000171817.17 . synonymous SNV ENSG00000171817.17:ENST00000316433.9:exon5:c.T645C:p.C215C 19q13.12 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF540 198 0 151 11 0.0679012345679012 TRUE TRUE ENSG00000101158.15 . BCM GRCh38.p13 chr20 58991341 58991341 + C C T Silent SNP ENST00000652272.2 exon9 c.C984T p.F328F exonic ENSG00000101158.15 . synonymous SNV ENSG00000101158.15:ENST00000652272.2:exon9:c.C984T:p.F328F 20q13.32 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NELFCD 220 0 223 18 0.0746887966804979 TRUE TRUE ENSG00000075340.23 . BCM GRCh38.p13 chr2 70673273 70673273 + T T C Intron SNP NA NA NA NA intronic ENSG00000075340.23 . . . 2p13.3 C3L-01124 . . . . . . . . . 2.16 D D B B . N . T N 0.102 T T T 0.002 0.384 0.110 . . . T T T T 0.337 4.720 0.951 N N -1.094 0.312 -1.231 0.258 0.987 0.537 0.590 0.490 0.542 . 3.210 -2.930 -0.172 -0.774 0.502 0.002 0.001 0.006 754 . . . . ADD2 293 0 284 15 0.0501672240802676 TRUE NA ENSG00000092108.21 . BCM GRCh38.p13 chr14 30644007 30644007 + C C T Intron SNP NA NA NA NA intronic ENSG00000092108.21 . . . 14q12 C3L-01124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCFD1 210 0 207 21 0.0921052631578947 TRUE NA ENSG00000143207.21 . BCM GRCh38.p13 chr1 176206867 176206867 + G G A Missense_Mutation SNP ENST00000367669.8 exon1 c.C112T p.P38S exonic ENSG00000143207.21 . nonsynonymous SNV ENSG00000143207.21:ENST00000367669.8:exon1:c.C112T:p.P38S 1q25.2 C3N-02592 . . . . . . . . . 2.19 T T B B N N . T N 0.366 T T D 0.083 0.112 0.281 0.800 D T T T T T 2.486 22.400 0.997 N N -0.285 1.652 -0.118 1.998 1.000 0.442 0.522 0.522 0.581 . 3.910 3.910 1.374 1.084 0.566 1.000 0.999 0.975 860 . . . . COP1 103 0 173 18 0.0942408376963351 TRUE TRUE ENSG00000162923.16 . BCM GRCh38.p13 chr1 224433703 224433703 + A A T Missense_Mutation SNP ENST00000651911.1 exon1 c.T403A p.L135M exonic ENSG00000162923.16 . nonsynonymous SNV ENSG00000162923.16:ENST00000651911.1:exon1:c.T403A:p.L135M 1q42.12 C3N-02592 . . . . . . . . . 13.17 D D . . . D M D N 0.513 D D D 0.590 0.574 0.272 2.229 D T D T D D 3.477 24.600 0.993 D N 0.198 3.293 0.154 2.969 1.000 0.733 0.522 0.601 0.562 . 3.840 2.700 3.165 0.252 0.756 1.000 1.000 1.000 749 LIS1_homology_motif . . . WDR26 78 0 177 11 0.0585106382978723 TRUE TRUE ENSG00000154358.21 . BCM GRCh38.p13 chr1 228245431 228245431 + C C T Missense_Mutation SNP ENST00000422127.5 exon12 c.C3500T p.A1167V exonic ENSG00000154358.21 . nonsynonymous SNV ENSG00000154358.21:ENST00000422127.5:exon12:c.C3500T:p.A1167V 1q42.13 C3N-02592 4.998e-05 0.0001 0.0002 0 0 1.504e-05 0 0.0001 rs377738173 4.20 T T D D N D N T N 0.185 T T D 0.073 . 0.662 0.105 T T T T T T 0.921 10.660 0.992 N N -0.369 1.451 -0.492 1.214 0.236 0.719 0.574 0.723 0.564 . 4.200 2.310 0.123 0.048 -0.379 0.001 0.015 0.003 459 Immunoglobulin-like_domain . . . OBSCN 115 0 200 19 0.0867579908675799 TRUE NA ENSG00000135801.9 . BCM GRCh38.p13 chr1 229594644 229594644 + C C T Missense_Mutation SNP ENST00000258281.6 exon5 c.G1423A p.A475T exonic ENSG00000135801.9 . nonsynonymous SNV ENSG00000135801.9:ENST00000258281.6:exon5:c.G1423A:p.A475T 1q42.13 C3N-02592 . . . . . . . . . 9.20 T D P B D D L T D 0.670 T T D 0.343 0.655 0.645 1.705 T T D T D T 2.473 22.300 0.998 D D -0.007 2.486 -0.008 2.331 1.000 0.707 0.654 0.725 0.636 . 5.970 4.070 6.147 0.074 0.599 1.000 0.161 0.193 520 WD40-repeat-containing_domain . . . TAF5L 193 0 469 26 0.0525252525252525 TRUE NA ENSG00000151779.13 . BCM GRCh38.p13 chr2 15234720 15234720 + A A T Missense_Mutation SNP ENST00000281513.10 exon46 c.T5971A p.Y1991N exonic ENSG00000151779.13 . nonsynonymous SNV ENSG00000151779.13:ENST00000281513.10:exon46:c.T5971A:p.Y1991N 2p24.3 C3N-02592 . . . . . . . . . 15.20 D D D D D D M T D 0.963 T T D 0.587 0.559 0.837 0.328 T T D D D D 4.182 28.500 0.990 D D 0.775 8.315 0.760 9.040 1.000 0.732 0.744 0.710 0.613 . 5.570 5.570 8.027 1.312 0.756 1.000 0.993 0.993 935 . . . . NBAS 225 0 432 28 0.0608695652173913 TRUE TRUE ENSG00000153246.13 . BCM GRCh38.p13 chr2 159967627 159967627 + C C T Missense_Mutation SNP ENST00000283243.13 exon20 c.G2816A p.R939Q exonic ENSG00000153246.13 . nonsynonymous SNV ENSG00000153246.13:ENST00000283243.13:exon20:c.G2816A:p.R939Q 2q24.2 C3N-02592 2.473e-05 0 8.651e-05 0 0 0 0 0.0001 rs199979054 12.20 D D D D D D M T D 0.700 T T D 0.222 . 0.510 0.421 T T T T D D 3.604 25.100 1.000 D N 0.483 4.905 0.396 4.333 0.931 0.732 0.547 0.602 0.728 . 5.670 3.840 3.268 1.026 0.599 1.000 0.961 0.872 640 C-type_lectin-like . . ID=COSV51775194;OCCURENCE=1(large_intestine),1(skin) PLA2R1 166 0 320 37 0.103641456582633 TRUE TRUE ENSG00000144644.14 . BCM GRCh38.p13 chr3 30801025 30801025 + C C A Missense_Mutation SNP ENST00000282538.9 exon12 c.G1114T p.D372Y exonic ENSG00000144644.14 . nonsynonymous SNV ENSG00000144644.14:ENST00000282538.9:exon12:c.G1114T:p.D372Y 3p23 C3N-02592 0.0014 0.0138 0.0011 0 0 0.0002 0.0022 6.057e-05 rs61738477 12.19 D D D D D D H T D 0.965 T T . 0.561 . 0.460 0.057 D T T T T D 4.021 27.100 0.996 D D 0.962 12.765 0.894 13.483 1.000 0.554 0.590 0.602 0.542 . 5.470 5.470 7.568 1.026 0.549 1.000 0.988 0.977 845 . . . . GADL1 297 0 558 34 0.0574324324324324 TRUE NA ENSG00000183090.5 . BCM GRCh38.p13 chr4 143577685 143577685 + G G T Missense_Mutation SNP ENST00000329798.5 exon8 c.C6346A p.P2116T exonic ENSG00000183090.5 . nonsynonymous SNV ENSG00000183090.5:ENST00000329798.5:exon8:c.C6346A:p.P2116T 4q31.21 C3N-02592 . . . . . . . . . 9.18 D D . . D D L T D 0.473 T T T 0.308 0.498 0.225 . T T T T D D 3.485 24.700 0.997 D D 0.407 4.384 0.405 4.394 0.999 0.554 0.574 0.574 0.568 . 3.740 3.740 9.391 1.176 0.676 1.000 0.997 0.993 816 . . . . FREM3 173 0 372 35 0.085995085995086 TRUE TRUE ENSG00000112685.14 . BCM GRCh38.p13 chr6 564072 564072 + C C G Missense_Mutation SNP ENST00000230449.9 exon16 c.G1750C p.V584L exonic ENSG00000112685.14 . nonsynonymous SNV ENSG00000112685.14:ENST00000230449.9:exon16:c.G1750C:p.V584L 6p25.3 C3N-02592 . . . . . . . . . 5.20 T T B B D D L T N 0.479 T T T 0.044 0.426 0.247 0.178 T T T T D T 1.777 17.560 0.991 D D -0.106 2.156 0.046 2.522 1.000 0.707 0.725 0.725 0.714 . 5.730 4.850 4.496 0.138 0.549 1.000 0.959 0.749 888 . . . . EXOC2 192 0 365 33 0.0829145728643216 TRUE TRUE ENSG00000204410.16 . BCM GRCh38.p13 chr6 31741250 31741250 + G G A Missense_Mutation SNP ENST00000375750.9 exon3 c.G235A p.A79T exonic ENSG00000204410.16;ENSG00000255152.8 . nonsynonymous SNV ENSG00000204410.16:ENST00000375750.9:exon3:c.G235A:p.A79T,ENSG00000255152.8:ENST00000493662.6:exon3:c.G235A:p.A79T 6p21.33 C3N-02592 . . . . . . . . . 1.17 T T B B N . L T N 0.108 T T T 0.035 0.351 0.424 0.428 . T T T T . 1.863 18.210 0.870 D N -0.430 1.319 -0.244 1.683 1.000 0.672 0.672 0.702 0.755 . 5.030 2.880 0.950 1.081 0.672 0.782 0.999 0.997 889 . . . . MSH5 145 0 289 28 0.0883280757097792 TRUE TRUE ENSG00000152822.14 . BCM GRCh38.p13 chr6 146352343 146352343 + T T C Missense_Mutation SNP ENST00000282753.6 exon4 c.T1280C p.M427T exonic ENSG00000152822.14 . nonsynonymous SNV ENSG00000152822.14:ENST00000282753.6:exon4:c.T1280C:p.M427T 6q24.3 C3N-02592 . . . . . . . . . 20.20 D D D D D D M D D 0.867 D D D 0.936 0.729 0.881 1.860 D D D D D D 3.718 25.500 0.994 D D 0.920 11.580 0.877 12.797 1.000 0.487 0.574 0.547 0.613 . 5.840 5.840 8.017 1.138 0.665 1.000 0.995 0.979 240 Receptor,_ligand_binding_region . . . GRM1 549 0 895 50 0.0529100529100529 TRUE TRUE ENSG00000136213.10 . BCM GRCh38.p13 chr7 2433354 2433354 + A A G Missense_Mutation SNP ENST00000618655.2 exon2 c.A715G p.T239A exonic ENSG00000136213.10 . nonsynonymous SNV ENSG00000136213.10:ENST00000618655.2:exon2:c.A715G:p.T239A 7p22.3 C3N-02592 . . . . . . . . . 15.20 T T D D D D M T N 0.835 D D D 0.374 0.648 0.959 1.438 T D D D D D 3.895 26.300 0.988 D D 0.714 7.316 0.669 7.205 0.949 0.707 0.702 0.571 0.714 . 5.270 5.270 7.331 1.207 0.756 1.000 1.000 0.997 873 . . . . CHST12 213 0 509 28 0.0521415270018622 TRUE TRUE ENSG00000122644.13 . BCM GRCh38.p13 chr7 12688720 12688720 + C C G Missense_Mutation SNP ENST00000651779.1 exon2 c.C466G p.L156V exonic ENSG00000122644.13 . nonsynonymous SNV ENSG00000122644.13:ENST00000651779.1:exon2:c.C466G:p.L156V 7p21.3 C3N-02592 . . . . . . . . . 9.20 D D D P N D M T N 0.712 T T T 0.348 0.534 0.741 0.672 T T T T D D 3.395 24.400 0.998 D D 0.610 6.023 0.591 6.116 1.000 0.543 0.588 0.581 0.639 . 4.700 4.700 3.354 1.005 0.599 1.000 1.000 0.999 909 . . . . ARL4A 232 0 402 22 0.0518867924528302 NA TRUE ENSG00000204930.10 . BCM GRCh38.p13 chr9 35818929 35818929 + C C T Missense_Mutation SNP ENST00000650284.1 exon5 c.G145A p.D49N exonic ENSG00000204930.10;ENSG00000285645.1 . nonsynonymous SNV ENSG00000285645.1:ENST00000650284.1:exon5:c.G145A:p.D49N,ENSG00000204930.10:ENST00000423537.7:exon6:c.G1132A:p.D378N 9p13.3 C3N-02592 . . . . . . . . . 6.19 D D B B . D N T N 0.223 T T T 0.087 0.345 0.072 0.064 T T T T D T 2.821 23.100 0.998 D D -0.080 2.237 0.072 2.623 1.000 0.554 0.588 0.547 0.542 . 5.420 5.420 4.466 1.026 0.599 1.000 0.936 0.424 146 . . . . FAM221B 289 0 3124 494 0.136539524599226 TRUE TRUE ENSG00000137103.20 . BCM GRCh38.p13 chr9 35846847 35846847 + C C A Missense_Mutation SNP ENST00000377991.9 exon11 c.C671A p.A224E exonic ENSG00000137103.20 . nonsynonymous SNV ENSG00000137103.20:ENST00000377991.9:exon11:c.C671A:p.A224E 9p13.3 C3N-02592 . . . . . . . . . 9.20 D D P B N D L D N 0.461 D D D 0.209 0.351 0.483 0.701 T T T T D T 2.327 21.700 0.956 D N -0.253 1.734 -0.166 1.869 1.000 0.767 0.688 0.851 0.601 . 6.170 3.240 3.297 0.103 -0.223 0.995 0.946 0.991 164 . . . . TMEM8B 112 0 1053 430 0.289952798381659 TRUE TRUE ENSG00000173679.2 . BCM GRCh38.p13 chr9 122661863 122661863 + C C T Missense_Mutation SNP ENST00000373686.1 exon1 c.C298T p.R100C exonic ENSG00000173679.2 . nonsynonymous SNV ENSG00000173679.2:ENST00000373686.1:exon1:c.C298T:p.R100C 9q33.2 C3N-02592 8.237e-05 0 0.0004 0 0.0002 5.994e-05 0 0 rs747195797 0.19 T T B B . N L T N 0.095 T T T 0.006 0.431 0.484 0.042 T T T T T T 0.526 6.773 0.588 N N -1.183 0.239 -1.231 0.258 0.137 0.487 0.574 0.574 0.530 . 3.110 0.147 -5.717 0.936 0.524 0.000 0.077 0.011 950 GPCR,_rhodopsin-like,_7TM . . ID=COSV58935455;OCCURENCE=1(large_intestine),1(stomach) OR1L1 164 0 248 29 0.104693140794224 TRUE TRUE ENSG00000181609.5 . BCM GRCh38.p13 chr11 5488743 5488743 + G G T Missense_Mutation SNP ENST00000322641.5 exon1 c.G37T p.D13Y exonic ENSG00000181609.5 . nonsynonymous SNV ENSG00000181609.5:ENST00000322641.5:exon1:c.G37T:p.D13Y 11p15.4 C3N-02592 . . . . . . . . . 0.20 T T B B N N L T N 0.173 T T T 0.032 0.308 0.175 0.004 T T T T T T 0.706 8.506 0.677 N N -0.826 0.617 -0.836 0.708 1.000 0.487 0.574 0.574 0.564 . 5.380 1.120 -0.056 0.207 -0.244 0.001 0.008 0.007 704 . . . . OR52D1 102 0 195 14 0.0669856459330144 TRUE TRUE ENSG00000248746.6 . BCM GRCh38.p13 chr11 66556222 66556222 + G G A Missense_Mutation SNP ENST00000513398.2 exon8 c.G796A p.A266T exonic ENSG00000248746.6 . nonsynonymous SNV ENSG00000248746.6:ENST00000513398.2:exon8:c.G796A:p.A266T 11q13.2 C3N-02592 . . . . . . . . . 5.10 . T B B . . . . . 0.667 . . . . . 0.564 . T T D D . D 3.486 24.700 0.998 D D . . . . 0.967 0.257 0.061 0.320 0.059 . 4.670 4.670 8.136 1.176 0.676 1.000 1.000 0.998 59 . . . ID=COSV72207675;OCCURENCE=1(endometrium) ACTN3 65 0 181 24 0.117073170731707 TRUE TRUE ENSG00000162337.12 . BCM GRCh38.p13 chr11 68425169 68425169 + G G A Missense_Mutation SNP ENST00000294304.12 exon15 c.G3304A p.E1102K exonic ENSG00000162337.12 . nonsynonymous SNV ENSG00000162337.12:ENST00000294304.12:exon15:c.G3304A:p.E1102K 11q13.2 C3N-02592 . . . . . . . . rs970458513 18.20 D D D P U D M D D 0.959 D D D 0.945 0.648 0.973 1.061 D D D D D D 4.236 29.000 0.999 D D 0.688 6.958 0.680 7.387 1.000 0.707 0.725 0.723 0.714 . 4.930 4.930 9.337 1.176 0.618 1.000 0.911 0.790 730 . . . ID=COSV53723710;OCCURENCE=1(urinary_tract) LRP5 189 0 370 28 0.0703517587939698 TRUE TRUE ENSG00000134909.18 . BCM GRCh38.p13 chr11 128969401 128969402 + CA CA - Frame_Shift_Del DEL ENST00000310343.13 exon22 c.5769_5770del p.G1924Sfs*30 exonic ENSG00000134909.18 . frameshift deletion ENSG00000134909.18:ENST00000310343.13:exon22:c.5769_5770del:p.G1924Sfs*30 11q24.3 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP32 276 0 529 49 0.0847750865051903 NA TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-02592 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 219 0 504 52 0.0935251798561151 TRUE TRUE ENSG00000211455.8 . BCM GRCh38.p13 chr12 27315321 27315321 + G G A Missense_Mutation SNP ENST00000389032.8 exon9 c.G808A p.E270K exonic ENSG00000211455.8 . nonsynonymous SNV ENSG00000211455.8:ENST00000389032.8:exon9:c.G808A:p.E270K 12p11.23 C3N-02592 . . . . . . . . . 9.20 T T P P D D N T N 0.593 T T T 0.425 0.440 0.609 1.516 D T D D D D 3.942 26.600 0.999 D D 0.161 3.134 0.261 3.496 1.000 0.706 0.725 0.710 0.714 . 4.500 3.600 9.925 1.157 0.595 1.000 0.996 0.998 787 Protein_kinase_domain . . . STK38L 92 0 169 35 0.17156862745098 TRUE TRUE ENSG00000092054.13 . BCM GRCh38.p13 chr14 23416063 23416063 + C C T Missense_Mutation SNP ENST00000355349.4 exon34 c.G4894A p.A1632T exonic ENSG00000092054.13 . nonsynonymous SNV ENSG00000092054.13:ENST00000355349.4:exon34:c.G4894A:p.A1632T 14q11.2 C3N-02592 4.118e-05 0.0002 8.637e-05 0 0 1.498e-05 0 6.056e-05 rs565663412 14.19 D D P P . D M T D 0.759 D D D 0.637 0.513 0.963 1.522 T D T D D D 3.498 24.700 0.999 D D 0.656 6.550 0.622 6.514 1.000 0.549 0.627 0.578 0.542 . 4.550 4.550 5.691 0.935 0.526 1.000 0.796 0.884 384 Myosin_tail . . ID=COSV62518371;OCCURENCE=1(prostate) MYH7 339 0 700 45 0.0604026845637584 NA TRUE ENSG00000103326.12 . BCM GRCh38.p13 chr16 547193 547193 + G G A Missense_Mutation SNP ENST00000219611.7 exon4 c.G355A p.A119T exonic ENSG00000103326.12 . nonsynonymous SNV ENSG00000103326.12:ENST00000219611.7:exon4:c.G355A:p.A119T 16p13.3 C3N-02592 6.036e-05 0 0 0 0 0 0 0.0004 rs560874988 3.20 T T B B N N L D N 0.203 T T D 0.217 0.119 0.332 . T T T T T T 0.609 7.597 0.889 D N -1.130 0.281 -1.098 0.378 1.000 0.778 0.698 0.854 0.630 . 4.930 1.830 0.952 -0.225 0.674 0.001 0.000 0.005 798 . . . . CAPN15 76 0 127 11 0.0797101449275362 TRUE NA ENSG00000149930.18 . BCM GRCh38.p13 chr16 29981908 29981908 + C C T Nonsense_Mutation SNP ENST00000308893.9 exon10 c.C799T p.Q267X exonic ENSG00000149930.18 . stopgain ENSG00000149930.18:ENST00000308893.9:exon10:c.C799T:p.Q267X 16p11.2 C3N-02592 . . . . . . . . . 5.6 . . . . D A . . . 0.558 . . . . . . . . . D D . . 7.336 37 0.998 D N 1.219 25.499 1.091 26.101 1.000 0.732 0.725 0.744 0.714 . 5.910 5.910 7.826 1.026 0.599 1.000 1.000 1.000 82 Protein_kinase_domain . . . TAOK2 202 0 446 26 0.0550847457627119 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673802 7673802 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G818A p.R273H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G818A:p.R273H 17p13.1 C3N-02592 2.628e-05 0 0 0 0 4.746e-05 0 0 rs28934576 19.20 D D D D D A M D D 0.965 D D D 0.868 . 0.997 0.264 T D D D D D 3.527 24.800 0.998 D D 0.383 4.238 0.333 3.915 1.000 0.722 0.702 0.725 0.735 . 4.920 4.920 7.905 1.022 0.596 1.000 0.856 0.980 432 p53,_DNA-binding_domain . . ID=COSV52660980;OCCURENCE=3(salivary_gland),135(breast),5(penis),9(liver),2(genital_tract),55(oesophagus),3(adrenal_gland),1(cervix),301(large_intestine),84(central_nervous_system),18(biliary_tract),1(fallopian_tube),1(pleura),4(vulva),73(ovary),8(bone),6(NS),57(haematopoietic_and_lymphoid_tissue),60(stomach),23(urinary_tract),7(soft_tissue),9(kidney),55(pancreas),15(skin),22(prostate),111(lung),11(thyroid),66(upper_aerodigestive_tract),2(thymus),41(endometrium) TP53 490 1 842 107 0.112750263435195 TRUE TRUE ENSG00000099331.13 . BCM GRCh38.p13 chr19 17163108 17163108 + T T G Missense_Mutation SNP ENST00000594824.5 exon10 c.T1657G p.F553V exonic ENSG00000099331.13 . nonsynonymous SNV ENSG00000099331.13:ENST00000594824.5:exon10:c.T1657G:p.F553V 19p13.11 C3N-02592 . . . . . . . . . 18.18 D D . . D D M D D 0.802 D D D 0.963 0.859 0.936 2.040 D D D D D D 4.270 29.300 0.993 D D 0.866 10.200 0.774 9.389 1.000 0.707 0.702 0.725 0.714 . 5.060 5.060 7.926 1.036 0.661 1.000 0.995 0.986 923 Class_IX_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO9B 131 0 299 17 0.0537974683544304 TRUE TRUE ENSG00000197408.10 . BCM GRCh38.p13 chr19 40991360 40991360 + C C A Missense_Mutation SNP ENST00000324071.10 exon1 c.C55A p.L19M exonic ENSG00000197408.10 . nonsynonymous SNV ENSG00000197408.10:ENST00000324071.10:exon1:c.C55A:p.L19M 19q13.2 C3N-02592 . . . . . . . . . 0.20 T T B B N N N T N 0.221 T T T 0.065 0.438 0.330 0.064 T T T T T T -1.147 0.003 0.511 N N -1.401 0.116 -1.533 0.096 0.024 0.487 0.574 0.573 0.564 . 2.920 -5.390 -2.257 -0.743 -0.242 0.000 0.001 0.005 825 . . . . CYP2B6 420 0 746 53 0.0663329161451815 TRUE TRUE ENSG00000185052.12 . BCM GRCh38.p13 chr20 19684187 19684187 + C C T Missense_Mutation SNP ENST00000328041.11 exon11 c.C913T p.R305C exonic ENSG00000185052.12 . nonsynonymous SNV ENSG00000185052.12:ENST00000328041.11:exon11:c.C913T:p.R305C 20p11.23 C3N-02592 2.475e-05 0 0 0 0 4.5e-05 0 0 rs759715523 5.20 T T B B D D L T N 0.314 T T D 0.182 . 0.200 0.680 T T T T T D 2.864 23.100 0.995 D N -0.087 2.218 0.093 2.706 0.021 0.615 0.547 0.659 0.530 . 5.200 5.200 2.454 1.026 0.597 1.000 1.000 0.991 833 . . . ID=COSV60127832;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) SLC24A3 145 0 237 13 0.052 TRUE TRUE ENSG00000124194.16 . BCM GRCh38.p13 chr20 44279227 44279227 + C C T Missense_Mutation SNP ENST00000342560.9 exon6 c.C1031T p.A344V exonic ENSG00000124194.16 . nonsynonymous SNV ENSG00000124194.16:ENST00000342560.9:exon6:c.C1031T:p.A344V 20q13.12 C3N-02592 2.475e-05 0.0002 0 0.0001 0 0 0 0 rs140997304 17.20 D D D D D D N D N 0.749 D D D 0.654 . 0.957 1.030 D T D D D D 3.751 25.600 0.999 D D 0.581 5.739 0.618 6.459 1.000 0.706 0.590 0.710 0.564 . 5.140 5.140 7.416 0.947 0.549 1.000 0.989 0.956 523 . . . ID=COSV61156196;OCCURENCE=1(oesophagus),2(large_intestine),2(stomach),1(endometrium) GDAP1L1 222 0 454 26 0.0541666666666667 TRUE TRUE ENSG00000120498.13 . BCM GRCh38.p13 chrX 70860901 70860901 + C C T Missense_Mutation SNP ENST00000395889.6 exon6 c.G325A p.E109K exonic ENSG00000120498.13 . nonsynonymous SNV ENSG00000120498.13:ENST00000395889.6:exon6:c.G325A:p.E109K Xq13.1 C3N-02592 . . . . . . . . . 1.19 T T P B N N L T N 0.181 T T T 0.058 0.419 0.174 0.344 T T T T T T 1.961 18.960 0.995 D . . . . . 0.002 . . . . . 4.830 4.830 1.774 1.008 0.599 0.981 0.144 0.850 225 . . . . TEX11 106 0 198 15 0.0704225352112676 TRUE TRUE ENSG00000156920.11 . BCM GRCh38.p13 chrX 136351540 136351540 + C C T Missense_Mutation SNP ENST00000394143.6 exon7 c.C6821T p.S2274L exonic ENSG00000156920.11 . nonsynonymous SNV ENSG00000156920.11:ENST00000394143.6:exon7:c.C6821T:p.S2274L Xq26.3 C3N-02592 . . . . . . . . . 2.17 D T B B . D . T N 0.318 T T T 0.033 0.386 0.095 0.032 T T T T T T 2.671 22.800 0.997 N . . . . . 0.999 . . . . . 4.330 3.450 1.879 0.224 -0.111 1.000 0.999 0.991 810 . . . ID=COSV54956046;OCCURENCE=1(central_nervous_system),1(skin),3(endometrium) ADGRG4 86 1 109 11 0.0916666666666667 TRUE TRUE ENSG00000102195.10 . BCM GRCh38.p13 chrX 151180610 151180610 + C C T Missense_Mutation SNP ENST00000218316.4 exon2 c.C1027T p.R343C exonic ENSG00000102195.10 . nonsynonymous SNV ENSG00000102195.10:ENST00000218316.4:exon2:c.C1027T:p.R343C Xq28 C3N-02592 1.148e-05 0.0001 0 0 0 0 0 0 rs764731190 3.19 T D D P N N L T N 0.215 T T D 0.190 0.416 0.736 0.531 T T T T T T 2.921 23.300 0.998 N . . . . . 0.995 . . . . . 3.900 2.930 1.335 -0.265 -0.222 0.001 0.000 0.000 924 . . . . GPR50 202 0 388 65 0.143487858719647 TRUE NA ENSG00000117523.16 . BCM GRCh38.p13 chr1 171540625 171540625 + A A G Silent SNP ENST00000367742.7 exon16 c.A3159G p.E1053E exonic ENSG00000117523.16 . synonymous SNV ENSG00000117523.16:ENST00000367742.7:exon16:c.A3159G:p.E1053E 1q24.3 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRRC2C 186 2 486 28 0.0544747081712062 TRUE TRUE ENSG00000081248.11 . BCM GRCh38.p13 chr1 201062033 201062033 + G G A Silent SNP ENST00000362061.4 exon24 c.C2964T p.R988R exonic ENSG00000081248.11 . synonymous SNV ENSG00000081248.11:ENST00000362061.4:exon24:c.C2964T:p.R988R 1q32.1 C3N-02592 2.514e-05 0 0 0.0001 0 3.036e-05 0 0 rs778128095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62938764;OCCURENCE=1(large_intestine) CACNA1S 520 0 1134 62 0.0518394648829431 TRUE NA ENSG00000084676.15 . BCM GRCh38.p13 chr2 24768250 24768250 + C C T Silent SNP ENST00000406961.5 exon23 c.C4185T p.D1395D exonic ENSG00000084676.15 . synonymous SNV ENSG00000084676.15:ENST00000406961.5:exon23:c.C4185T:p.D1395D 2p23.3 C3N-02592 8.25e-06 0 8.645e-05 0 0 0 0 0 rs774491757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56051786;OCCURENCE=1(large_intestine) NCOA1 67 0 194 11 0.0536585365853659 TRUE NA ENSG00000178021.11 . BCM GRCh38.p13 chr2 54255582 54255582 + C C A Silent SNP ENST00000317802.9 exon1 c.G570T p.G190G exonic ENSG00000178021.11 . synonymous SNV ENSG00000178021.11:ENST00000317802.9:exon1:c.G570T:p.G190G 2p16.2 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPYL6 289 0 518 66 0.113013698630137 TRUE TRUE ENSG00000149256.16 . BCM GRCh38.p13 chr11 79069897 79069897 + G G A Silent SNP ENST00000278550.12 exon5 c.C48T p.R16R exonic ENSG00000149256.16 . synonymous SNV ENSG00000149256.16:ENST00000278550.12:exon5:c.C48T:p.R16R 11q14.1 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM4 201 0 416 52 0.111111111111111 TRUE NA ENSG00000161849.3 . BCM GRCh38.p13 chr12 52378094 52378094 + G G A Silent SNP ENST00000257951.3 exon9 c.C1743T p.G581G exonic ENSG00000161849.3 . synonymous SNV ENSG00000161849.3:ENST00000257951.3:exon9:c.C1743T:p.G581G 12q13.13 C3N-02592 3.75e-05 0 0 0.0002 0 2.967e-05 0 0 rs748995346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99230703;OCCURENCE=1(central_nervous_system) KRT84 38 0 102 7 0.0642201834862385 TRUE NA ENSG00000182175.14 . BCM GRCh38.p13 chr15 93045280 93045280 + G G A Silent SNP ENST00000557301.2 exon4 c.C1095T p.Y365Y exonic ENSG00000182175.14 . synonymous SNV ENSG00000182175.14:ENST00000557301.2:exon4:c.C1095T:p.Y365Y 15q26.1 C3N-02592 2.625e-05 0 0 0 0 0 0.0012 0.0001 rs372399863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61233015;OCCURENCE=1(stomach) RGMA 247 0 515 30 0.055045871559633 TRUE TRUE ENSG00000197647.11 . BCM GRCh38.p13 chr19 12015406 12015406 + G G A Silent SNP ENST00000344980.10 exon4 c.C1461T p.F487F exonic ENSG00000197647.11 . synonymous SNV ENSG00000197647.11:ENST00000344980.10:exon4:c.C1461T:p.F487F 19p13.2 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF433 209 0 354 41 0.10379746835443 TRUE TRUE ENSG00000196961.12 . BCM GRCh38.p13 chr19 49792031 49792031 + G G T Silent SNP ENST00000359032.9 exon5 c.G570T p.A190A exonic ENSG00000196961.12 . synonymous SNV ENSG00000196961.12:ENST00000359032.9:exon5:c.G570T:p.A190A 19q13.33 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP2A1 245 0 465 27 0.0548780487804878 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 C3N-02592 5.773e-05 9.634e-05 0 0 0 9.002e-05 0 0 rs200288756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF582 144 0 258 14 0.0514705882352941 TRUE NA ENSG00000056998.20 . BCM GRCh38.p13 chrX 2853980 2853980 + G G A Silent SNP ENST00000381163.7 exon5 c.G243A p.R81R exonic ENSG00000056998.20 . synonymous SNV ENSG00000056998.20:ENST00000381163.7:exon5:c.G243A:p.R81R Xp22.33 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GYG2 98 0 184 14 0.0707070707070707 TRUE TRUE ENSG00000180815.14 . BCM GRCh38.p13 chrX 19372782 19372782 + C C T Silent SNP ENST00000338883.8 exon22 c.G2979A p.S993S exonic ENSG00000180815.14 . synonymous SNV ENSG00000180815.14:ENST00000338883.8:exon22:c.G2979A:p.S993S Xp22.12 C3N-02592 1.156e-05 0 0 0 0 2.101e-05 0 0 rs150181853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58838067;OCCURENCE=1(endometrium) MAP3K15 155 0 229 16 0.0653061224489796 TRUE TRUE ENSG00000102387.15 . BCM GRCh38.p13 chrX 101292977 101292977 + C C T Silent SNP ENST00000372907.7 exon1 c.G69A p.S23S exonic ENSG00000102387.15 . synonymous SNV ENSG00000102387.15:ENST00000372907.7:exon1:c.G69A:p.S23S Xq22.1 C3N-02592 1.153e-05 0 0 0 0 2.108e-05 0 0 rs746941333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAF7L 365 0 614 79 0.113997113997114 TRUE NA ENSG00000049883.15 . BCM GRCh38.p13 chr5 72320530 72320530 + G G A Intron SNP NA NA NA NA intronic ENSG00000049883.15 . . . 5q13.2 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTCD2 223 0 384 26 0.0634146341463415 TRUE NA ENSG00000196301.3 . BCM GRCh38.p13 chr6 32460052 32460052 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000196301.3 . . . 6p21.32 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLA-DRB9 149 0 293 28 0.0872274143302181 TRUE NA ENSG00000213930.12 . BCM GRCh38.p13 chr9 34647409 34647409 + T T G Intron SNP NA NA NA NA intronic ENSG00000213930.12;ENSG00000258728.1 . . . 9p13.3 C3N-02592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GALT 440 0 820 362 0.306260575296108 TRUE NA ENSG00000140937.14 . BCM GRCh38.p13 chr16 64948752 64948752 + C C T Intron SNP NA NA NA NA intronic ENSG00000140937.14 . . . 16q21 C3N-02592 . . . . . . . . . 0.16 T T B B . N . T N 0.214 T T T 0.049 0.399 0.453 . . . T T T T 0.268 3.917 0.883 N N -1.288 0.171 -1.393 0.155 0.908 0.560 0.574 0.574 0.550 . 3.460 -3.080 0.477 -0.215 -0.174 0.003 0.330 0.049 543 . . . . CDH11 78 0 129 23 0.151315789473684 TRUE TRUE ENSG00000267594.5 . BCM GRCh38.p13 chr19 15774300 15774300 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000267594.5 . . . 19p13.12 C3N-02592 3.33e-05 0 0 0.0005 0 0 0 0 rs768475662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP4F24P 287 0 462 56 0.108108108108108 TRUE NA ENSG00000187730.9 . BCM GRCh38.p13 chr1 2025030 2025030 + C C T Missense_Mutation SNP ENST00000378585.7 exon2 c.C157T p.R53C exonic ENSG00000187730.9 . nonsynonymous SNV ENSG00000187730.9:ENST00000378585.7:exon2:c.C157T:p.R53C 1p36.33 C3N-01383 8.496e-06 0 0 0 0 1.556e-05 0 0 rs747096398 15.20 D T D D D D M T D 0.797 D D D 0.476 0.518 0.798 2.124 T D T T D D 3.286 24.100 0.999 D D 0.437 4.583 0.390 4.287 0.849 0.646 0.547 0.645 0.563 . 4.840 4.840 2.236 1.026 0.599 0.973 0.361 0.416 940 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . GABRD 100 1 231 16 0.0647773279352227 TRUE NA ENSG00000117000.9 . BCM GRCh38.p13 chr1 40236266 40236266 + C C - Frame_Shift_Del DEL ENST00000372771.5 exon8 c.1564delC p.Q522Nfs*7 exonic ENSG00000117000.9 . frameshift deletion ENSG00000117000.9:ENST00000372771.5:exon8:c.1564delC:p.Q522Nfs*7 1p34.2 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RLF 288 0 356 28 0.0729166666666667 TRUE TRUE ENSG00000120332.16 . BCM GRCh38.p13 chr1 175079569 175079569 + G G A Missense_Mutation SNP ENST00000239462.9 exon3 c.G646A p.V216M exonic ENSG00000120332.16 . nonsynonymous SNV ENSG00000120332.16:ENST00000239462.9:exon3:c.G646A:p.V216M 1q25.1 C3N-01383 . . . . . . . . . 1.20 T T P B N N M T N 0.300 T T T 0.049 0.348 0.210 0.112 T T T T T T 1.544 16.020 0.982 N N -0.336 1.528 -0.493 1.213 0.001 0.517 0.590 0.479 0.613 . 4.700 2.790 1.585 -0.132 -0.161 0.016 0.022 0.014 556 EGF-like_domain . . ID=COSV53421489;OCCURENCE=1(liver),2(large_intestine) TNN 175 0 519 41 0.0732142857142857 TRUE TRUE ENSG00000047410.14 . BCM GRCh38.p13 chr1 186362896 186362896 + T T C Missense_Mutation SNP ENST00000367478.9 exon6 c.A637G p.R213G exonic ENSG00000047410.14 . nonsynonymous SNV ENSG00000047410.14:ENST00000367478.9:exon6:c.A637G:p.R213G 1q31.1 C3N-01383 . . . . . . . . . 12.20 D D D P D D M T D 0.807 T T D 0.256 0.290 0.379 0.473 T T D T D D 3.502 24.700 0.996 D N 0.433 4.556 0.392 4.301 0.988 0.732 0.744 0.725 0.728 . 5.330 4.170 1.133 1.138 0.665 1.000 1.000 0.999 305 . . . . TPR 154 0 198 19 0.0875576036866359 TRUE NA ENSG00000116833.14 . BCM GRCh38.p13 chr1 200120856 200120856 + C C T Missense_Mutation SNP ENST00000367362.8 exon7 c.C1279T p.L427F exonic ENSG00000116833.14 . nonsynonymous SNV ENSG00000116833.14:ENST00000367362.8:exon7:c.C1279T:p.L427F 1q32.1 C3N-01383 . . . . . . . . . 17.20 D D P P D D M D D 0.870 D D D 0.813 0.660 0.951 1.087 T D D D D D 3.707 25.400 0.999 D D 0.554 5.484 0.600 6.224 0.998 0.615 0.547 0.659 0.621 . 5.720 5.720 4.103 1.026 0.599 1.000 1.000 0.997 895 Nuclear_hormone_receptor,_ligand-binding_domain . . . NR5A2 80 0 125 12 0.0875912408759124 TRUE TRUE ENSG00000155816.20 . BCM GRCh38.p13 chr1 240178003 240178003 + T T C Missense_Mutation SNP ENST00000319653.14 exon3 c.T1865C p.V622A exonic ENSG00000155816.20 . nonsynonymous SNV ENSG00000155816.20:ENST00000319653.14:exon3:c.T1865C:p.V622A 1q43 C3N-01383 . . . . . . . . . 3.20 D D B B N N L T N 0.042 T T D 0.263 0.130 0.582 0.111 T T T T T T 0.596 7.477 0.725 N N -0.975 0.432 -1.061 0.417 0.034 0.554 0.574 0.618 0.621 . 5.520 -4.870 0.672 0.088 0.587 0.612 0.029 0.022 976 . . . . FMN2 118 0 218 12 0.0521739130434783 TRUE NA ENSG00000177174.1 . BCM GRCh38.p13 chr1 248349052 248349052 + C C T Missense_Mutation SNP ENST00000317861.1 exon1 c.C278T p.A93V exonic ENSG00000177174.1 . nonsynonymous SNV ENSG00000177174.1:ENST00000317861.1:exon1:c.C278T:p.A93V 1q44 C3N-01383 0.0002 0.0002 0.0002 0 0.0002 0.0002 0 0.0004 rs145207343 0.20 T T B B N N L T N 0.053 T T T 0.010 . 0.014 0.159 T T T T T T 0.695 8.410 0.868 N N -0.906 0.513 -0.964 0.534 0.000 0.487 0.574 0.574 0.564 . 3.900 -1.110 -2.651 0.471 0.348 0.000 0.003 0.004 982 GPCR,_rhodopsin-like,_7TM . . ID=COSV58600854;OCCURENCE=1(central_nervous_system) OR14C36 264 0 455 48 0.095427435387674 TRUE TRUE ENSG00000186487.20 . BCM GRCh38.p13 chr2 1923009 1923009 + C C G Missense_Mutation SNP ENST00000647738.2 exon10 c.G760C p.D254H exonic ENSG00000186487.20 . nonsynonymous SNV ENSG00000186487.20:ENST00000647738.2:exon10:c.G760C:p.D254H 2p25.3 C3N-01383 . . . . . . . . . 11.20 D T D D D D M T N 0.684 T T T 0.220 0.200 0.308 1.598 T T D T D D 2.534 22.500 0.994 D D 0.302 3.789 0.399 4.354 1.000 0.487 0.574 0.547 0.564 . 6.070 6.070 4.869 1.026 0.599 1.000 0.934 0.725 695 . . . . MYT1L 326 0 560 46 0.0759075907590759 TRUE TRUE ENSG00000138449.11 . BCM GRCh38.p13 chr2 189571729 189571729 + C C T Missense_Mutation SNP ENST00000261024.7 exon5 c.G500A p.R167K exonic ENSG00000138449.11 . nonsynonymous SNV ENSG00000138449.11:ENST00000261024.7:exon5:c.G500A:p.R167K 2q32.2 C3N-01383 8.33e-06 0 0 0 0 0 0.0011 0 rs750595460 10.20 T T P B D D L D N 0.235 D D D 0.438 0.631 0.487 0.479 T T D T D T 2.809 23.000 0.986 D D 0.323 3.899 0.444 4.685 1.000 0.706 0.574 0.590 0.613 . 5.290 5.290 7.726 1.026 0.599 1.000 0.983 0.992 779 . . . . SLC40A1 269 0 411 32 0.072234762979684 TRUE NA ENSG00000115993.13 . BCM GRCh38.p13 chr2 201386346 201386346 + T T A Missense_Mutation SNP ENST00000332624.8 exon14 c.A1835T p.E612V exonic ENSG00000115993.13 . nonsynonymous SNV ENSG00000115993.13:ENST00000332624.8:exon14:c.A1835T:p.E612V 2q33.1 C3N-01383 . . . . . . . . . 14.20 D D D D D D M T D 0.795 T T D 0.491 0.346 0.143 0.606 T D T T D D 4.312 29.700 0.995 D D 0.807 8.919 0.754 8.894 1.000 0.707 0.725 0.725 0.714 . 5.060 5.060 7.784 1.138 0.665 1.000 1.000 0.998 431 . . . . TRAK2 377 2 684 55 0.074424898511502 NA TRUE ENSG00000115657.14 . BCM GRCh38.p13 chr2 219210281 219210281 + T T C Missense_Mutation SNP ENST00000265316.9 exon18 c.A2369G p.N790S exonic ENSG00000115657.14 . nonsynonymous SNV ENSG00000115657.14:ENST00000265316.9:exon18:c.A2369G:p.N790S 2q35 C3N-01383 8.237e-06 0 0 0 0 1.498e-05 0 0 rs199955293 2.20 T T B B N N N T D 0.146 T T T 0.189 0.629 0.710 0.166 T T T T T D 1.446 15.390 0.970 N N -0.781 0.682 -0.663 0.953 0.995 0.707 0.698 0.644 0.714 . 4.830 2.480 0.401 0.205 0.660 0.072 0.890 0.988 546 ABC_transporter-like;AAA+_ATPase_domain . . . ABCB6 279 0 545 39 0.0667808219178082 TRUE NA ENSG00000072195.15 . BCM GRCh38.p13 chr2 219448420 219448420 + C C T Missense_Mutation SNP ENST00000312358.12 exon4 c.C1262T p.P421L exonic ENSG00000072195.15 . nonsynonymous SNV ENSG00000072195.15:ENST00000312358.12:exon4:c.C1262T:p.P421L 2q35 C3N-01383 . . . . . . . . . 7.20 D D B B N D L T D 0.316 T T D 0.066 0.230 0.416 1.645 D T T T T D 2.461 22.300 0.991 N N -0.312 1.584 -0.145 1.924 1.000 0.726 0.563 0.594 0.563 . 4.130 3.150 1.931 0.959 0.522 0.998 0.999 0.976 86 . . . . SPEG 137 0 337 33 0.0891891891891892 TRUE TRUE ENSG00000163359.16 . BCM GRCh38.p13 chr2 237334785 237334785 + C C T Missense_Mutation SNP ENST00000295550.9 exon41 c.G9070A p.V3024I exonic ENSG00000163359.16 . nonsynonymous SNV ENSG00000163359.16:ENST00000295550.9:exon41:c.G9070A:p.V3024I 2q37.3 C3N-01383 1.647e-05 0 0 0 0 2.997e-05 0 0 rs769756403 0.20 T T B B N N L T N 0.136 T T T 0.005 . 0.214 0.119 T T T T T T 0.364 5.021 0.873 N N -1.097 0.309 -1.003 0.485 0.999 0.615 0.586 0.659 0.542 . 5.230 1.990 -0.684 -0.235 -0.827 0.000 0.840 0.679 955 Fibronectin_type_III . . ID=COSV55100929;OCCURENCE=2(breast),2(large_intestine),1(stomach) COL6A3 286 1 570 61 0.0966719492868463 TRUE TRUE ENSG00000204099.11 . BCM GRCh38.p13 chr2 241815057 241815057 + C C T Missense_Mutation SNP ENST00000391969.6 exon4 c.C367T p.R123C exonic ENSG00000204099.11 . nonsynonymous SNV ENSG00000204099.11:ENST00000391969.6:exon4:c.C367T:p.R123C 2q37.3 C3N-01383 7.438e-05 0 0 0 0 0.0001 0 0 rs370244576 19.20 D D D D D D H D D 0.639 D D D 0.626 . 0.793 0.363 T D D D D D 3.412 24.400 0.999 D D 0.412 4.421 0.243 3.403 1.000 0.517 0.547 0.479 0.563 . 4.570 4.570 2.177 0.646 0.599 0.993 0.002 0.004 958 Sialidase . . ID=COSV57991730;OCCURENCE=1(large_intestine) NEU4 160 0 364 36 0.09 TRUE TRUE ENSG00000144893.12 . BCM GRCh38.p13 chr3 151116342 151116342 + A A G Missense_Mutation SNP ENST00000474524.5 exon2 c.A104G p.E35G exonic ENSG00000144893.12 . nonsynonymous SNV ENSG00000144893.12:ENST00000474524.5:exon2:c.A104G:p.E35G 3q25.1 C3N-01383 . . . . . . . . . 15.20 D D D D N D M T D 0.821 T T D 0.730 0.439 0.349 1.318 D T D D D D 4.193 28.600 0.999 D D 0.729 7.539 0.712 7.976 1.000 0.554 0.574 0.602 0.564 . 5.220 5.220 9.264 1.312 0.691 1.000 1.000 0.998 516 . . . . MED12L 63 0 118 18 0.132352941176471 TRUE NA ENSG00000181982.18 . BCM GRCh38.p13 chr4 24837253 24837253 + C C T Missense_Mutation SNP ENST00000635206.1 exon6 c.G637A p.V213M exonic ENSG00000181982.18 . nonsynonymous SNV ENSG00000181982.18:ENST00000635206.1:exon6:c.G637A:p.V213M 4p15.2 C3N-01383 3.302e-05 0 0.0002 0 0 3.003e-05 0 0 rs200792138 8.15 D D . . D D . . N 0.671 T T T 0.261 . 0.210 1.501 T . T D D D 3.651 25.200 0.999 D N 0.679 6.839 0.694 7.645 0.999 0.651 0.547 0.653 0.684 . 6.070 6.070 3.026 1.026 0.599 1.000 0.983 0.896 843 . . . . CCDC149 127 0 233 26 0.1003861003861 TRUE NA ENSG00000185873.8 . BCM GRCh38.p13 chr4 68236009 68236009 + T T A Nonsense_Mutation SNP ENST00000332644.6 exon4 c.A301T p.K101X exonic ENSG00000185873.8 . stopgain ENSG00000185873.8:ENST00000332644.6:exon4:c.A301T:p.K101X 4q13.2 C3N-01383 8.603e-06 0.0001 0 0 0 0 0 0 rs559293322 3.6 . . . . N A . . . 0.210 . . . . . . . . . D D . . 5.393 34 0.994 N N 0.166 3.156 -0.113 2.011 0.000 0.487 0.574 0.574 0.564 . 4.980 2.240 0.295 0.125 0.589 0.252 0.817 0.976 779 SEA_domain . . . TMPRSS11B 85 0 84 14 0.142857142857143 TRUE NA ENSG00000052795.13 . BCM GRCh38.p13 chr4 158870318 158870318 + A A T Missense_Mutation SNP ENST00000264433.11 exon14 c.A2798T p.Q933L exonic ENSG00000052795.13 . nonsynonymous SNV ENSG00000052795.13:ENST00000264433.11:exon14:c.A2798T:p.Q933L 4q32.1 C3N-01383 . . . . . . . . rs1024480054 6.20 D D B B N N L T D 0.381 T T T 0.087 0.252 0.043 0.146 T T T T D T 3.124 23.700 0.991 D D 0.238 3.477 0.351 4.027 1.000 0.563 0.588 0.784 0.636 . 5.740 5.740 3.950 1.312 0.756 1.000 1.000 0.999 867 Folliculin-interacting_protein,_C-terminal_domain;Tripartite_DENN_domain,_FNIP1/2-type . . . FNIP2 99 0 173 19 0.0989583333333333 TRUE NA ENSG00000164117.14 . BCM GRCh38.p13 chr4 174262962 174262962 + - NA GAT In_Frame_Ins INS ENST00000393674.7 exon2 c.130_131insATC p.H43_R44insH exonic ENSG00000164117.14 . nonframeshift insertion ENSG00000164117.14:ENST00000393674.7:exon2:c.130_131insATC:p.H43_R44insH 4q34.1 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXO8 NA NA NA NA NA NA NA ENSG00000001084.13 . BCM GRCh38.p13 chr6 53514486 53514486 + C C T Missense_Mutation SNP ENST00000650454.1 exon5 c.G572A p.R191K exonic ENSG00000001084.13 . nonsynonymous SNV ENSG00000001084.13:ENST00000650454.1:exon5:c.G572A:p.R191K 6p12.1 C3N-01383 . . . . . . . . . 9.20 T T P B D D L T N 0.742 T T D 0.217 0.413 0.692 0.681 D T D T D D 3.009 23.400 0.900 D D 0.425 4.505 0.531 5.451 1.000 0.707 0.709 0.725 0.714 . 5.940 5.940 7.472 1.026 0.599 1.000 1.000 0.997 697 . . . . GCLC 360 0 585 56 0.0873634945397816 TRUE TRUE ENSG00000106546.14 . BCM GRCh38.p13 chr7 17335701 17335703 + CGA CGA - In_Frame_Del DEL ENST00000242057.9 exon9 c.1075_1077del p.R359del exonic ENSG00000106546.14;ENSG00000283321.1 . nonframeshift deletion ENSG00000106546.14:ENST00000242057.9:exon9:c.1075_1077del:p.R359del,ENSG00000283321.1:ENST00000637807.1:exon9:c.1045_1047del:p.R349del 7p21.1 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHR 240 0 361 23 0.0598958333333333 NA TRUE ENSG00000158623.14 . BCM GRCh38.p13 chr7 130611076 130611076 + T T C Missense_Mutation SNP ENST00000425248.5 exon9 c.A614G p.K205R exonic ENSG00000158623.14 . nonsynonymous SNV ENSG00000158623.14:ENST00000425248.5:exon9:c.A614G:p.K205R 7q32.2 C3N-01383 . . . . . . . . . 4.19 T T B B N D . T N 0.298 T T T 0.041 0.426 0.483 . T T T T D D 2.198 20.800 0.992 D N -0.270 1.689 -0.125 1.978 0.988 0.732 0.725 0.725 0.728 . 5.310 2.950 4.093 1.138 0.665 1.000 1.000 1.000 923 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . COPG2 143 0 214 22 0.0932203389830508 TRUE TRUE ENSG00000131558.15 . BCM GRCh38.p13 chr7 133917635 133917637 + GAT GAT - In_Frame_Del DEL ENST00000253861.5 exon13 c.1924_1926del p.D644del exonic ENSG00000131558.15 . nonframeshift deletion ENSG00000131558.15:ENST00000253861.5:exon13:c.1924_1926del:p.D644del 7q33 C3N-01383 8.237e-06 0 8.637e-05 0 0 0 0 0 rs751783828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXOC4 190 0 320 25 0.072463768115942 TRUE NA ENSG00000136574.17 . BCM GRCh38.p13 chr8 11708870 11708870 + C C - Frame_Shift_Del DEL ENST00000335135.8 exon2 c.558delC p.P187Rfs*61 exonic ENSG00000136574.17 . frameshift deletion ENSG00000136574.17:ENST00000335135.8:exon2:c.558delC:p.P187Rfs*61 8p23.1 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GATA4 95 0 442 43 0.088659793814433 TRUE TRUE ENSG00000205268.11 . BCM GRCh38.p13 chr8 65739588 65739588 + A A G Missense_Mutation SNP ENST00000401827.8 exon6 c.T509C p.L170P exonic ENSG00000205268.11 . nonsynonymous SNV ENSG00000205268.11:ENST00000401827.8:exon6:c.T509C:p.L170P 8q13.1 C3N-01383 8.896e-06 0 0 0 0 1.597e-05 0 0 rs773177540 19.20 D D D D D D M D D 0.971 D D D 0.938 0.870 0.965 1.619 T D D D D D 4.277 29.400 0.999 D D 0.815 9.083 0.791 9.872 1.000 0.707 0.725 0.651 0.684 . 5.580 5.580 9.107 1.312 0.756 1.000 1.000 1.000 770 3'5'-cyclic_nucleotide_phosphodiesterase,_catalytic_domain . . . PDE7A 79 0 69 4 0.0547945205479452 TRUE NA ENSG00000164919.11 . BCM GRCh38.p13 chr8 99887587 99887587 + T T C Missense_Mutation SNP ENST00000520468.7 exon3 c.A146G p.Y49C exonic ENSG00000164919.11 . nonsynonymous SNV ENSG00000164919.11:ENST00000520468.7:exon3:c.A146G:p.Y49C 8q22.2 C3N-01383 . . . . . . . . . 15.18 D D D D D D . . D 0.895 T T D 0.624 0.930 0.307 0.521 T D D D D D 3.977 26.800 0.997 D D 0.495 4.999 0.456 4.783 1.000 0.732 0.744 0.744 0.728 . 5.570 5.570 5.743 1.138 0.665 1.000 0.977 0.964 458 Mitochondrial_cytochrome_c_oxidase_subunit_VIc/VIIs . . . COX6C 140 0 221 21 0.0867768595041322 TRUE TRUE ENSG00000169436.17 . BCM GRCh38.p13 chr8 138878029 138878029 + G G A Missense_Mutation SNP ENST00000303045.11 exon3 c.C379T p.R127C exonic ENSG00000169436.17 . nonsynonymous SNV ENSG00000169436.17:ENST00000303045.11:exon3:c.C379T:p.R127C 8q24.23 C3N-01383 2.273e-05 0 0 0.0003 0 0 0 0 rs758355984 2.20 T T P P U N L D N 0.380 T T D 0.285 0.643 0.440 0.116 T T T T T T 2.850 23.100 0.997 N N 0.010 2.545 -0.081 2.102 0.018 0.615 0.574 0.659 0.563 . 5.200 2.190 2.302 1.172 0.676 0.985 0.418 0.433 972 von_Willebrand_factor,_type_A . . . COL22A1 205 0 497 60 0.107719928186715 TRUE NA ENSG00000171855.7 . BCM GRCh38.p13 chr9 21077659 21077659 + A A C Missense_Mutation SNP ENST00000380232.4 exon1 c.T211G p.F71V exonic ENSG00000171855.7 . nonsynonymous SNV ENSG00000171855.7:ENST00000380232.4:exon1:c.T211G:p.F71V 9p21.3 C3N-01383 . . . . . . . . . 2.20 T T B B N N L T D 0.139 T T T 0.026 0.507 0.359 0.015 T T T T D T -0.307 0.301 0.538 N N -1.458 0.095 -1.603 0.074 1.000 0.447 0.547 0.547 0.530 . 5.640 -7.850 -0.916 -0.736 -0.751 0.000 0.007 0.012 737 . . . . IFNB1 200 0 390 37 0.0866510538641686 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971187 21971187 + G G A Nonsense_Mutation SNP ENST00000304494.9 exon2 c.C172T p.R58X exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon2:c.C172T:p.R58X 9p21.3 C3N-01383 . . . . . . . . rs121913387 4.15 D T . . N D . T D 0.185 T T . 0.220 . 0.879 . . T T T D T 5.550 34 0.997 N N -0.315 1.578 -0.449 1.286 1.000 0.677 0.383 0.608 0.601 . 5.790 2.710 -0.135 1.176 0.676 0.000 0.031 0.057 900 . . . ID=COSV58682666;OCCURENCE=1(salivary_gland),3(breast),9(penis),1(peritoneum),5(liver),18(oesophagus),1(cervix),8(vulva),6(ovary),17(NS),4(haematopoietic_and_lymphoid_tissue),4(stomach),4(urinary_tract),2(soft_tissue),18(pancreas),41(skin),18(lung),42(upper_aerodigestive_tract),1(thymus),1(endometrium) CDKN2A 308 0 771 83 0.0971896955503513 NA TRUE ENSG00000148482.12 . BCM GRCh38.p13 chr10 17965681 17965681 + C C T Missense_Mutation SNP ENST00000377369.7 exon4 c.C742T p.R248C exonic ENSG00000148482.12 . nonsynonymous SNV ENSG00000148482.12:ENST00000377369.7:exon4:c.C742T:p.R248C 10p12.33 C3N-01383 0.0001 0 9.151e-05 0.0001 0 3.138e-05 0 0.0007 rs187451149 5.20 D D P P N D N T N 0.223 T T T 0.074 . 0.423 0.063 T T T T T D 2.655 22.700 0.999 D N 0.285 3.703 0.361 4.095 0.139 0.554 0.588 0.574 0.564 . 5.810 5.810 2.108 1.026 0.599 0.936 0.032 0.534 940 . . . . SLC39A12 152 1 250 32 0.113475177304965 TRUE NA ENSG00000138347.15 . BCM GRCh38.p13 chr10 68197399 68197399 + G G A Missense_Mutation SNP ENST00000358913.9 exon16 c.G3206A p.R1069H exonic ENSG00000138347.15 . nonsynonymous SNV ENSG00000138347.15:ENST00000358913.9:exon16:c.G3206A:p.R1069H 10q21.3 C3N-01383 1.648e-05 0 0 0 0 0 0 0.0001 rs763362861 13.20 D D D D N D M T D 0.796 T T D 0.348 0.356 0.803 0.581 T T T D D D 4.552 32 1.000 D D 0.713 7.301 0.700 7.751 0.693 0.526 0.574 0.616 0.530 . 5.160 5.160 7.758 1.155 0.676 1.000 1.000 0.998 929 . . . . MYPN 442 1 856 96 0.100840336134454 TRUE NA ENSG00000186113.1 . BCM GRCh38.p13 chr11 55796288 55796288 + T T A Missense_Mutation SNP ENST00000335605.1 exon1 c.T733A p.S245T exonic ENSG00000186113.1 . nonsynonymous SNV ENSG00000186113.1:ENST00000335605.1:exon1:c.T733A:p.S245T 11q11 C3N-01383 . . . . . . . . . 9.20 D D D D D N M T D 0.169 T T T 0.172 0.450 0.632 0.092 T T T T D T 3.112 23.700 0.988 D N 0.293 3.741 0.129 2.858 0.000 0.487 0.574 0.574 0.564 . 5.080 3.930 1.006 -0.036 -0.210 0.534 0.904 0.282 155 GPCR,_rhodopsin-like,_7TM . . . OR5D14 171 0 277 32 0.103559870550162 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-01383 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 343 0 508 52 0.0928571428571429 TRUE TRUE ENSG00000133704.10 . BCM GRCh38.p13 chr12 30639596 30639596 + C C T Missense_Mutation SNP ENST00000256079.9 exon21 c.G2408A p.R803Q exonic ENSG00000133704.10 . nonsynonymous SNV ENSG00000133704.10:ENST00000256079.9:exon21:c.G2408A:p.R803Q 12p11.21 C3N-01383 1.648e-05 9.61e-05 0 0 0 1.498e-05 0 0 rs778254539 0.20 T T B B N N N T N 0.136 T T T 0.073 0.464 0.241 0.305 T T T T T T 1.681 16.900 0.961 N N -0.887 0.537 -0.774 0.795 0.000 0.707 0.725 0.644 0.714 . 5.040 -1.270 0.600 -0.216 0.599 0.985 0.702 0.998 964 . . . ID=COSV56240309;OCCURENCE=1(large_intestine),1(endometrium) IPO8 266 0 511 50 0.089126559714795 TRUE TRUE ENSG00000167767.14 . BCM GRCh38.p13 chr12 52191639 52191639 + C C G Missense_Mutation SNP ENST00000394815.3 exon1 c.G264C p.K88N exonic ENSG00000167767.14 . nonsynonymous SNV ENSG00000167767.14:ENST00000394815.3:exon1:c.G264C:p.K88N 12q13.13 C3N-01383 . . . . . . . . . 16.19 D D D D . D M D D 0.745 D D D 0.592 0.659 0.697 0.583 T D D D D T 3.207 23.900 0.997 D N 0.406 4.378 0.249 3.434 1.000 0.387 0.590 0.578 0.722 . 5.250 2.440 1.504 -0.231 -0.773 0.793 0.983 0.981 334 Intermediate_filament,_rod_domain . . . KRT80 78 0 132 17 0.114093959731544 TRUE TRUE ENSG00000167768.4 . BCM GRCh38.p13 chr12 52677416 52677416 + C C T Missense_Mutation SNP ENST00000252244.3 exon5 c.G1028A p.R343H exonic ENSG00000167768.4 . nonsynonymous SNV ENSG00000167768.4:ENST00000252244.3:exon5:c.G1028A:p.R343H 12q13.13 C3N-01383 . . . . . . . . . 17.19 D D D D . D M T D 0.661 D D D 0.789 0.783 0.879 1.051 T D D D D D 4.032 27.200 0.999 D D 0.858 10.030 0.789 9.812 1.000 0.497 0.590 0.547 0.530 . 5.220 5.220 7.813 0.947 0.549 1.000 0.968 0.835 716 Intermediate_filament,_rod_domain . . ID=COSV52866558;OCCURENCE=1(large_intestine),1(kidney),1(endometrium) KRT1 280 0 586 38 0.0608974358974359 TRUE TRUE ENSG00000133958.13 . BCM GRCh38.p13 chr14 93577947 93577947 + C C T Missense_Mutation SNP ENST00000393151.6 exon18 c.C2317T p.R773C exonic ENSG00000133958.13 . nonsynonymous SNV ENSG00000133958.13:ENST00000393151.6:exon18:c.C2317T:p.R773C 14q32.12 C3N-01383 1.647e-05 0 0 0.0001 0 1.498e-05 0 0 rs781756182 7.17 D D . . D D L T N 0.193 T T T 0.120 0.144 0.043 0.974 T T T T D . 3.301 24.100 0.999 D D 0.547 5.427 0.595 6.164 0.361 0.554 0.574 0.602 0.564 . 5.330 5.330 5.371 1.026 0.599 1.000 0.998 0.977 819 . . . ID=COSV56376369;OCCURENCE=5(skin) UNC79 355 0 651 51 0.0726495726495727 TRUE TRUE ENSG00000137872.17 . BCM GRCh38.p13 chr15 47765933 47765933 + G G A Missense_Mutation SNP ENST00000536845.7 exon14 c.G1492A p.A498T exonic ENSG00000137872.17 . nonsynonymous SNV ENSG00000137872.17:ENST00000536845.7:exon14:c.G1492A:p.A498T 15q21.1 C3N-01383 2.689e-05 0 8.708e-05 0 0 0 0 0.0002 rs562979514 3.20 T T P B N D L T N 0.149 T T T 0.049 0.390 0.043 0.075 T T T T T D 1.896 18.460 0.947 D N -0.300 1.613 -0.244 1.683 1.000 0.651 0.574 0.651 0.636 . 5.680 3.820 3.393 0.116 -0.127 1.000 0.966 0.972 755 Sema_domain . . . SEMA6D 32 0 57 7 0.109375 TRUE NA ENSG00000075131.10 . BCM GRCh38.p13 chr15 66352863 66352863 + G G A Missense_Mutation SNP ENST00000261881.9 exon2 c.C85T p.P29S exonic ENSG00000075131.10 . nonsynonymous SNV ENSG00000075131.10:ENST00000261881.9:exon2:c.C85T:p.P29S 15q22.31 C3N-01383 . . . . . . . . . 11.20 D D D D D D M T D 0.436 T T T 0.269 0.269 0.661 0.495 T T T T D T 3.793 25.800 0.999 D D 0.720 7.415 0.684 7.466 1.000 0.732 0.725 0.744 0.728 . 4.720 4.720 8.008 1.143 0.656 1.000 1.000 0.991 754 . . . . TIPIN 108 0 197 12 0.0574162679425837 NA TRUE ENSG00000120071.14 . BCM GRCh38.p13 chr17 46171240 46171240 + G G A Nonsense_Mutation SNP ENST00000432791.6 exon2 c.C904T p.Q302X exonic ENSG00000120071.14 . stopgain ENSG00000120071.14:ENST00000432791.6:exon2:c.C904T:p.Q302X 17q21.31 C3N-01383 . . . . . . . . . 5.6 . . . . D D . . . 0.381 . . . . . . . . . D D . . 7.051 37 0.998 D N 1.213 24.933 1.100 27.073 1.000 0.707 0.702 0.696 0.714 . 6.040 6.040 7.430 1.172 0.676 1.000 1.000 0.997 169 . . . . KANSL1 244 0 414 40 0.0881057268722467 TRUE TRUE ENSG00000266074.8 . BCM GRCh38.p13 chr17 81447351 81447351 + C C T Missense_Mutation SNP ENST00000584436.7 exon12 c.C3572T p.A1191V exonic ENSG00000266074.8 . nonsynonymous SNV ENSG00000266074.8:ENST00000584436.7:exon12:c.C3572T:p.A1191V 17q25.3 C3N-01383 0.0002 0 0.0005 0.0004 0 5.654e-05 0 0.0003 rs549555237 1.19 D T B B N N . T N 0.167 T T T 0.032 . 0.014 0.084 T T T T T T 0.805 9.439 0.993 N N -1.196 0.230 -1.136 0.340 0.017 0.581 0.547 0.578 0.605 . 4.340 3.370 1.037 -0.125 -0.688 0.006 0.005 0.048 . . . . ID=COSV57023720;OCCURENCE=1(stomach) BAHCC1 79 1 110 17 0.133858267716535 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51048836 51048836 + G G T Nonsense_Mutation SNP ENST00000342988.8 exon3 c.G400T p.E134X exonic ENSG00000141646.14 . stopgain ENSG00000141646.14:ENST00000342988.8:exon3:c.G400T:p.E134X 18q21.2 C3N-01383 . . . . . . . . . 5.6 . . . . D A . . . 0.971 . . . . . . . . . D D . . 7.290 37 0.998 D N 1.080 16.696 0.953 16.240 1.000 0.732 0.725 0.663 0.728 . 5.480 5.480 8.153 1.176 0.618 1.000 1.000 0.998 681 MAD_homology_1,_Dwarfin-type;MAD_homology,_MH1 . . . SMAD4 249 0 371 60 0.139211136890951 TRUE TRUE ENSG00000065000.19 . BCM GRCh38.p13 chr19 2111804 2111804 + T T G Missense_Mutation SNP ENST00000345016.9 exon23 c.A2626C p.K876Q exonic ENSG00000065000.19 . nonsynonymous SNV ENSG00000065000.19:ENST00000345016.9:exon23:c.A2626C:p.K876Q 19p13.3 C3N-01383 0.0007 0.0006 0.0004 0 0 0.0003 0.0012 0.0027 rs201127154 6.20 T T D D N D M T N 0.295 T T D 0.172 . 0.713 0.093 T T T T T T 2.323 21.700 0.911 D N -0.150 2.022 -0.202 1.780 0.872 0.707 0.702 0.702 0.714 . 4.340 3.330 1.853 0.138 -0.178 1.000 0.994 0.572 952 . . . . AP3D1 207 0 486 54 0.1 TRUE NA ENSG00000142449.13 . BCM GRCh38.p13 chr19 8136424 8136424 + C C T Missense_Mutation SNP ENST00000600128.6 exon11 c.G1309A p.V437M exonic ENSG00000142449.13 . nonsynonymous SNV ENSG00000142449.13:ENST00000600128.6:exon11:c.G1309A:p.V437M 19p13.2 C3N-01383 8.253e-06 0 0 0.0001 0 0 0 0 rs765550768 2.20 T T B B U N N D N 0.149 T T D 0.189 0.498 0.551 0.207 T T T T T T -1.303 0.001 0.951 N N -1.179 0.242 -1.269 0.230 0.293 0.672 0.547 0.702 0.613 . 4.400 -5.230 -0.107 -0.431 -0.916 0.012 0.000 0.000 934 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . FBN3 163 1 363 38 0.0947630922693267 TRUE NA ENSG00000131351.15 . BCM GRCh38.p13 chr19 17050054 17050054 + T T C Missense_Mutation SNP ENST00000253669.10 exon11 c.A1052G p.D351G exonic ENSG00000131351.15 . nonsynonymous SNV ENSG00000131351.15:ENST00000253669.10:exon11:c.A1052G:p.D351G 19p13.11 C3N-01383 . . . . . . . . . 2.20 D D B B N N L T N 0.206 T T T 0.068 0.189 0.246 0.169 T T T T T T 1.171 13.400 0.967 N N -0.882 0.543 -0.932 0.577 1.000 0.732 0.725 0.723 0.728 . 3.770 2.100 0.812 0.776 0.665 0.010 0.026 0.002 970 . . . . HAUS8 82 0 147 16 0.098159509202454 TRUE TRUE ENSG00000130844.18 . BCM GRCh38.p13 chr19 53577855 53577855 + C C T Missense_Mutation SNP ENST00000253144.13 exon7 c.C1295T p.T432M exonic ENSG00000130844.18 . nonsynonymous SNV ENSG00000130844.18:ENST00000253144.13:exon7:c.C1295T:p.T432M 19q13.42 C3N-01383 . . . . . . . . . 2.19 D D B B N N L T N 0.112 T T T 0.084 0.506 0.147 0.778 T T T T T T 1.367 14.860 0.976 N . -0.684 0.840 -0.822 0.727 0.073 0.707 0.725 0.725 0.636 . 3.580 -0.234 -2.059 -0.079 0.581 0.000 0.241 0.420 994 Zinc_finger_C2H2-type . . . ZNF331 200 1 320 28 0.0804597701149425 TRUE NA ENSG00000132635.17 . BCM GRCh38.p13 chr20 2838997 2838997 + C C T Missense_Mutation SNP ENST00000360652.7 exon4 c.G290A p.R97H exonic ENSG00000132635.17 . nonsynonymous SNV ENSG00000132635.17:ENST00000360652.7:exon4:c.G290A:p.R97H 20p13 C3N-01383 8.268e-06 0 8.651e-05 0 0 0 0 0 rs753469763 15.20 D D D D D D M T D 0.934 T T D 0.504 . 0.560 1.382 T T D D D D 3.898 26.300 0.999 D D 0.680 6.854 0.579 5.975 1.000 0.660 0.663 0.383 0.684 . 3.760 3.760 4.909 1.016 0.587 1.000 1.000 0.997 466 . . . . PCED1A 340 2 663 62 0.0855172413793103 TRUE NA ENSG00000125885.13 . BCM GRCh38.p13 chr20 5977987 5977987 + G G A Missense_Mutation SNP ENST00000610722.4 exon13 c.G1507A p.E503K exonic ENSG00000125885.13;ENSG00000286235.1 . nonsynonymous SNV ENSG00000125885.13:ENST00000610722.4:exon13:c.G1507A:p.E503K,ENSG00000286235.1:ENST00000652720.1:exon13:c.G1507A:p.E503K 20p12.3 C3N-01383 . . . . . . . . . 16.20 D D D D D D M T D 0.973 T T D 0.656 0.814 0.629 0.642 D T D D D D 4.560 32 0.999 D D 1.025 14.716 0.979 17.595 1.000 0.732 0.725 0.744 0.728 . 5.730 5.730 9.487 1.176 0.676 1.000 1.000 1.000 665 AAA+_ATPase_domain;MCM_domain . . . MCM8 149 0 261 24 0.0842105263157895 TRUE TRUE ENSG00000132671.5 . BCM GRCh38.p13 chr20 23036609 23036609 + G G A Missense_Mutation SNP ENST00000255008.4 exon1 c.G1126A p.G376S exonic ENSG00000132671.5 . nonsynonymous SNV ENSG00000132671.5:ENST00000255008.4:exon1:c.G1126A:p.G376S 20p11.21 C3N-01383 . . . . . . . . . 1.20 T T B B N N N T N 0.012 T T D 0.034 0.209 0.206 0.426 T T T T T T 0.088 1.988 0.462 N N -1.638 0.047 -1.680 0.055 0.997 0.497 0.590 0.563 0.530 . 3.920 -3.450 -0.189 -2.192 -0.563 0.000 0.000 0.005 862 . . . . SSTR4 32 0 75 5 0.0625 TRUE NA ENSG00000087460.25 . BCM GRCh38.p13 chr20 58909366 58909366 + G G A Missense_Mutation SNP ENST00000371100.8 exon8 c.G2531A p.R844H exonic ENSG00000087460.25 . nonsynonymous SNV ENSG00000087460.25:ENST00000371100.8:exon8:c.G2531A:p.R844H 20q13.32 C3N-01383 7.414e-05 9.61e-05 8.64e-05 0.0002 0 5.994e-05 0 6.057e-05 rs121913495 20.20 D D D D D D H D D 0.941 D D D 0.969 0.901 1.000 3.504 D D D D D D 4.798 33 0.999 D D 1.106 17.755 1.000 18.858 1.000 0.722 0.699 0.702 0.735 . 5.530 5.530 9.471 1.176 0.676 1.000 0.761 0.911 987 . . . ID=COSV55670349;OCCURENCE=2(breast),7(liver),17(peritoneum),1(oesophagus),11(adrenal_gland),8(cervix),152(large_intestine),24(biliary_tract),7(ovary),122(bone),8(NS),11(haematopoietic_and_lymphoid_tissue),19(stomach),1(urinary_tract),2(kidney),30(soft_tissue),206(pancreas),17(pituitary),1(skin),7(lung),18(thyroid),35(small_intestine) GNAS 567 2 1199 111 0.0847328244274809 NA TRUE ENSG00000154736.6 . BCM GRCh38.p13 chr21 26934548 26934548 + G G A Missense_Mutation SNP ENST00000284987.6 exon4 c.C1607T p.A536V exonic ENSG00000154736.6 . nonsynonymous SNV ENSG00000154736.6:ENST00000284987.6:exon4:c.C1607T:p.A536V 21q21.3 C3N-01383 3.295e-05 0 0 0 0 5.994e-05 0 0 rs752801493 10.20 D T D P D D M T N 0.788 T T D 0.285 0.549 0.858 1.292 T T T T D D 3.736 25.600 0.999 D D 0.352 4.057 0.251 3.445 1.000 0.554 0.574 0.602 0.564 . 5.680 4.790 7.593 1.176 0.676 1.000 0.373 0.761 735 ADAM,_cysteine-rich . . ID=COSV53183225;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) ADAMTS5 351 1 708 54 0.0708661417322835 TRUE TRUE ENSG00000185448.10 . BCM GRCh38.p13 chrX 34131494 34131494 + C C T Missense_Mutation SNP ENST00000346193.4 exon1 c.G785A p.R262Q exonic ENSG00000185448.10 . nonsynonymous SNV ENSG00000185448.10:ENST00000346193.4:exon1:c.G785A:p.R262Q Xp21.1 C3N-01383 . . . . . . . . . 0.18 T T P B . N L T N 0.092 T T T 0.051 0.247 0.043 0.428 T T T T T T 0.151 2.590 0.698 N . . . . . 0.000 . . . . . 0.130 0.130 -1.581 -1.837 -1.708 0.000 0.001 0.001 937 . . . ID=COSV60497337;OCCURENCE=1(skin) FAM47A 261 1 431 53 0.109504132231405 TRUE TRUE ENSG00000176406.23 . BCM GRCh38.p13 chr8 104068511 104068511 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000176406.23 ENST00000666250.1:exon24:c.3548-1G>T . . 8q22.3 C3N-01383 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 3.466 24.600 0.995 D . 0.432 4.550 0.514 5.291 0.960 0.054 0.063 0.060 0.057 0.970 5.300 5.300 7.272 1.176 0.676 1.000 1.000 0.999 758 . . . ID=COSV99165552;OCCURENCE=1(skin) RIMS2 124 0 193 38 0.164502164502165 TRUE NA ENSG00000108582.12 . BCM GRCh38.p13 chr17 30420985 30420985 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000108582.12 ENST00000225719.9:exon3:c.1137+2T>C . . 17q11.2 C3N-01383 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.320 33 0.993 D . 1.177 21.835 1.043 21.737 1.000 0.164 0.097 0.060 0.243 0.973 5.810 5.810 7.825 1.138 0.665 1.000 1.000 0.999 598 . . . . CPD 101 0 178 20 0.101010101010101 TRUE TRUE ENSG00000158816.15 . BCM GRCh38.p13 chr1 20345481 20345481 + C C T Silent SNP ENST00000375079.6 exon17 c.C2652T p.S884S exonic ENSG00000158816.15 . synonymous SNV ENSG00000158816.15:ENST00000375079.6:exon17:c.C2652T:p.S884S 1p36.12 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA5B1 270 0 517 52 0.0913884007029877 TRUE NA ENSG00000143520.6 . BCM GRCh38.p13 chr1 152358792 152358792 + A A G Silent SNP ENST00000388718.5 exon2 c.T93C p.G31G exonic ENSG00000143520.6 . synonymous SNV ENSG00000143520.6:ENST00000388718.5:exon2:c.T93C:p.G31G 1q21.3 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLG2 193 0 335 28 0.0771349862258953 TRUE TRUE ENSG00000163462.18 . BCM GRCh38.p13 chr1 155182090 155182090 + C C T Silent SNP ENST00000334634.9 exon9 c.C1827T p.V609V exonic ENSG00000163462.18 . synonymous SNV ENSG00000163462.18:ENST00000334634.9:exon9:c.C1827T:p.V609V 1q22 C3N-01383 0.0001 0 0 0 0 0.0002 0 0 rs200101530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM46 245 0 573 60 0.0947867298578199 TRUE NA ENSG00000143341.12 . BCM GRCh38.p13 chr1 186001710 186001710 + T T A Silent SNP ENST00000271588.9 exon28 c.T4317A p.T1439T exonic ENSG00000143341.12 . synonymous SNV ENSG00000143341.12:ENST00000271588.9:exon28:c.T4317A:p.T1439T 1q31.1 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMCN1 267 0 429 43 0.0911016949152542 TRUE TRUE ENSG00000066032.18 . BCM GRCh38.p13 chr2 80581813 80581813 + C C T Silent SNP ENST00000402739.8 exon13 c.C2001T p.S667S exonic ENSG00000066032.18 . synonymous SNV ENSG00000066032.18:ENST00000402739.8:exon13:c.C2001T:p.S667S 2p12 C3N-01383 2.503e-05 0 8.834e-05 0.0001 0 1.507e-05 0 0 rs368214934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTNNA2 153 0 252 24 0.0869565217391304 TRUE NA ENSG00000113810.16 . BCM GRCh38.p13 chr3 160428922 160428922 + A A G Silent SNP ENST00000357388.8 exon18 c.A2775G p.V925V exonic ENSG00000113810.16 . synonymous SNV ENSG00000113810.16:ENST00000357388.8:exon18:c.A2775G:p.V925V 3q25.33 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMC4 117 0 135 12 0.0816326530612245 TRUE NA ENSG00000049167.14 . BCM GRCh38.p13 chr5 60928908 60928908 + G G A Silent SNP ENST00000265038.9 exon2 c.C129T p.G43G exonic ENSG00000049167.14 . synonymous SNV ENSG00000049167.14:ENST00000265038.9:exon2:c.C129T:p.G43G 5q12.1 C3N-01383 7.425e-05 0 0.0007 0 0 1.5e-05 0 0 rs145518936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54014655;OCCURENCE=1(large_intestine) ERCC8 212 0 302 28 0.0848484848484849 TRUE TRUE ENSG00000129103.18 . BCM GRCh38.p13 chr7 56074606 56074606 + C C T Silent SNP ENST00000434526.7 exon5 c.C405T p.G135G exonic ENSG00000129103.18 . synonymous SNV ENSG00000129103.18:ENST00000434526.7:exon5:c.C405T:p.G135G 7p11.2 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUMF2 93 0 204 18 0.0810810810810811 TRUE TRUE ENSG00000137571.11 . BCM GRCh38.p13 chr8 69673226 69673226 + G G A Silent SNP ENST00000260126.9 exon10 c.C2190T p.N730N exonic ENSG00000137571.11 . synonymous SNV ENSG00000137571.11:ENST00000260126.9:exon10:c.C2190T:p.N730N 8q13.3 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLCO5A1 279 0 652 56 0.0790960451977401 TRUE TRUE ENSG00000176566.5 . BCM GRCh38.p13 chr8 87873336 87873336 + G G A Silent SNP ENST00000319675.5 exon1 c.C636T p.N212N exonic ENSG00000176566.5 . synonymous SNV ENSG00000176566.5:ENST00000319675.5:exon1:c.C636T:p.N212N 8q21.3 C3N-01383 2.471e-05 0 0 0 0 2.997e-05 0.0011 0 rs866117569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCAF4L2 310 1 606 122 0.167582417582418 TRUE NA ENSG00000174669.12 . BCM GRCh38.p13 chr11 66367843 66367843 + G G A Silent SNP ENST00000357440.7 exon6 c.C577T p.L193L exonic ENSG00000174669.12 . synonymous SNV ENSG00000174669.12:ENST00000357440.7:exon6:c.C577T:p.L193L 11q13.2 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC29A2 347 0 662 67 0.0919067215363512 TRUE TRUE ENSG00000151067.22 . BCM GRCh38.p13 chr12 2504904 2504904 + G G A Silent SNP ENST00000399655.6 exon8 c.G1176A p.G392G exonic ENSG00000151067.22 . synonymous SNV ENSG00000151067.22:ENST00000399655.6:exon8:c.G1176A:p.G392G 12p13.33 C3N-01383 . . . . . . . . rs1051360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1C 319 0 597 49 0.0758513931888545 TRUE TRUE ENSG00000136155.17 . BCM GRCh38.p13 chr13 77572142 77572142 + G G A Silent SNP ENST00000349847.4 exon9 c.G498A p.P166P exonic ENSG00000136155.17 . synonymous SNV ENSG00000136155.17:ENST00000349847.4:exon9:c.G498A:p.P166P 13q22.3 C3N-01383 1.652e-05 0 8.675e-05 0 0 0 0 6.108e-05 rs528874271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCEL 171 0 307 39 0.11271676300578 TRUE NA ENSG00000119720.18 . BCM GRCh38.p13 chr14 90304034 90304034 + G G A Silent SNP ENST00000354366.8 exon5 c.C906T p.S302S exonic ENSG00000119720.18 . synonymous SNV ENSG00000119720.18:ENST00000354366.8:exon5:c.C906T:p.S302S 14q32.11 C3N-01383 1.648e-05 0 0 0 0 2.997e-05 0 0 rs375950270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRDE2 175 2 352 45 0.113350125944584 TRUE NA ENSG00000169594.13 . BCM GRCh38.p13 chr15 83257523 83257523 + C C T Silent SNP ENST00000345382.6 exon5 c.G2904A p.S968S exonic ENSG00000169594.13 . synonymous SNV ENSG00000169594.13:ENST00000345382.6:exon5:c.G2904A:p.S968S 15q25.2 C3N-01383 . . . . . . . . rs1021377126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61757413;OCCURENCE=1(breast) BNC1 225 0 404 52 0.114035087719298 TRUE TRUE ENSG00000196218.13 . BCM GRCh38.p13 chr19 38564988 38564988 + C C T Silent SNP ENST00000359596.8 exon91 c.C12654T p.F4218F exonic ENSG00000196218.13 . synonymous SNV ENSG00000196218.13:ENST00000359596.8:exon91:c.C12654T:p.F4218F 19q13.2 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62094637;OCCURENCE=2(cervix),1(lung) RYR1 276 0 609 50 0.0758725341426404 TRUE TRUE ENSG00000203865.10 . BCM GRCh38.p13 chr1 116405836 116405836 + T T G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000203865.10 . . . 1p13.1 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP1A1-AS1 53 0 89 7 0.0729166666666667 TRUE NA ENSG00000163539.17 . BCM GRCh38.p13 chr3 33717810 33717810 + G G C IGR SNP NA NA NA NA intergenic ENSG00000163539.17;ENSG00000228112.1 dist=58369;dist=9440 . . 3p22.3 C3N-01383 . . . . . . . . . 9.17 D D . . N D . T D 0.246 T T D 0.136 0.510 0.307 0.792 T T T T D D 3.842 26.000 0.996 D D -0.139 2.055 -0.031 2.256 1.000 0.442 0.219 0.504 0.562 . 4.210 2.210 5.025 1.080 0.676 1.000 1.000 0.994 326 TOG_domain . . . CLASP2 248 0 586 51 0.0800627943485086 TRUE TRUE ENSG00000196083.10 . BCM GRCh38.p13 chr3 190615313 190615313 + A A T Intron SNP NA NA NA NA intronic ENSG00000196083.10 . . . 3q28 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL1RAP 130 0 205 17 0.0765765765765766 TRUE TRUE ENSG00000186439.14 . BCM GRCh38.p13 chr6 123503693 123503693 + G G A Intron SNP NA NA NA NA intronic ENSG00000186439.14 . . . 6q22.31 C3N-01383 6.244e-05 0 0.0003 0 0 4.866e-05 0 6.478e-05 rs369589621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRDN 230 1 363 34 0.0856423173803526 TRUE NA ENSG00000257962.1 . BCM GRCh38.p13 chr8 85246387 85246387 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000257962.1 . . . 8q21.2 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC011773.2 250 0 415 41 0.0899122807017544 TRUE NA ENSG00000254872.3 . BCM GRCh38.p13 chr11 1086737 1086737 + C C T IGR SNP NA NA NA NA intergenic ENSG00000254872.3;ENSG00000198788.8 dist=30988;dist=15718 . . 11p15.5 C3N-01383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02688 58 0 95 6 0.0594059405940594 TRUE NA ENSG00000197182.14 . BCM GRCh38.p13 chr22 46112807 46112807 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000197182.14;ENSG00000283990.1 . . . 22q13.31 C3N-01383 . . . . . . . . rs970921980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIRLET7BHG 102 0 298 25 0.0773993808049536 TRUE NA ENSG00000159363.18 . BCM GRCh38.p13 chr1 16991749 16991749 + C C A Missense_Mutation SNP ENST00000326735.13 exon20 c.G2236T p.A746S exonic ENSG00000159363.18 . nonsynonymous SNV ENSG00000159363.18:ENST00000326735.13:exon20:c.G2236T:p.A746S 1p36.13 C3N-03439 . . . . . . . . . 3.20 T D B B D N N T N 0.285 T T D 0.075 0.492 0.458 0.311 T T T T T T 1.078 12.540 0.973 N N -0.840 0.599 -0.669 0.944 0.758 0.706 0.710 0.723 0.714 . 4.930 3.810 0.112 -0.186 -0.341 0.300 0.895 0.064 846 . . . . ATP13A2 335 0 506 51 0.0915619389587074 TRUE TRUE ENSG00000121904.17 . BCM GRCh38.p13 chr1 33611190 33611190 + C C T Missense_Mutation SNP ENST00000373388.6 exon41 c.G6074A p.R2025Q exonic ENSG00000121904.17 . nonsynonymous SNV ENSG00000121904.17:ENST00000373388.6:exon41:c.G6074A:p.R2025Q 1p35.1 C3N-03439 5.799e-05 0.0002 0 0 0 7.532e-05 0 0 rs372340478 6.20 T T D D D D L T N 0.503 T T T 0.220 . 0.441 . T T T T T T 2.488 22.400 0.998 D D 0.263 3.596 0.297 3.697 1.000 0.706 0.590 0.710 0.564 . 5.370 4.460 2.685 0.126 0.599 0.986 0.995 0.977 468 CUB_domain . . ID=COSV53892070;OCCURENCE=1(large_intestine) CSMD2 496 0 702 59 0.0775295663600526 TRUE TRUE ENSG00000134215.16 . BCM GRCh38.p13 chr1 107596241 107596241 + C C G Missense_Mutation SNP ENST00000370056.9 exon25 c.G2321C p.G774A exonic ENSG00000134215.16 . nonsynonymous SNV ENSG00000134215.16:ENST00000370056.9:exon25:c.G2321C:p.G774A 1p13.3 C3N-03439 . . . . . . . . . 2.20 T T B B N D L T N 0.093 T T T 0.051 0.148 0.656 0.215 T T T T T T 1.330 14.600 0.215 D N -0.296 1.625 -0.160 1.884 0.607 0.638 0.588 0.653 0.621 . 5.310 4.360 1.304 1.026 0.599 0.981 0.985 0.959 750 . . . . VAV3 135 0 232 21 0.08300395256917 TRUE TRUE ENSG00000163564.15 . BCM GRCh38.p13 chr1 158939222 158939222 + C C A Missense_Mutation SNP ENST00000368140.6 exon4 c.C554A p.A185D exonic ENSG00000163564.15 . nonsynonymous SNV ENSG00000163564.15:ENST00000368140.6:exon4:c.C554A:p.A185D 1q23.1 C3N-03439 . . . . . . . . . 4.19 D D D P . N L T D 0.228 T T T 0.078 0.077 0.361 0.204 T T T T T T 1.543 16.010 0.978 N N -0.551 1.079 -0.798 0.761 0.000 0.638 0.670 0.574 0.621 . 2.310 1.390 0.225 -0.287 -0.276 0.000 0.000 0.001 923 . . . . PYHIN1 86 0 127 54 0.298342541436464 TRUE TRUE ENSG00000162745.10 . BCM GRCh38.p13 chr1 162006443 162006443 + C C T Missense_Mutation SNP ENST00000294794.7 exon4 c.G577A p.E193K exonic ENSG00000162745.10 . nonsynonymous SNV ENSG00000162745.10:ENST00000294794.7:exon4:c.G577A:p.E193K 1q23.3 C3N-03439 3.31e-05 0 0 0 0 1.502e-05 0 0.0002 rs759621817 0.19 T T B B . N L T N 0.127 T T T 0.017 . 0.067 0.131 T T T T T T 1.260 14.100 0.987 N N -0.999 0.405 -0.989 0.503 0.999 0.706 0.590 0.710 0.616 . 4.740 1.820 0.566 0.130 -0.187 0.043 0.550 0.345 906 . . . ID=COSV54195956;OCCURENCE=1(large_intestine),1(lung) OLFML2B 80 1 89 34 0.276422764227642 TRUE TRUE ENSG00000117501.14 . BCM GRCh38.p13 chr1 170998353 170998353 + G G A Missense_Mutation SNP ENST00000367758.7 exon15 c.G1675A p.V559I exonic ENSG00000117501.14 . nonsynonymous SNV ENSG00000117501.14:ENST00000367758.7:exon15:c.G1675A:p.V559I 1q24.3 C3N-03439 0.0005 0 0.0003 0 0 0.0001 0 0.0029 rs200484356 0.19 T T B B N N N T N 0.070 T T T 0.009 . 0.014 . . T T T T T -0.498 0.120 0.099 N N -1.545 0.068 -1.643 0.064 0.000 0.487 0.574 0.574 0.564 . 0.207 -0.414 -0.790 -0.416 -0.622 0.000 0.001 0.010 838 . . . ID=COSV63009973;OCCURENCE=1(large_intestine) MROH9 72 0 137 24 0.149068322981366 TRUE NA ENSG00000134369.15 . BCM GRCh38.p13 chr1 201718458 201718458 + G G A Missense_Mutation SNP ENST00000367296.8 exon3 c.G929A p.R310H exonic ENSG00000134369.15 . nonsynonymous SNV ENSG00000134369.15:ENST00000367296.8:exon3:c.G929A:p.R310H 1q32.1 C3N-03439 . . . . . . . . . 11.18 D D . . N D M T D 0.746 T T D 0.318 0.176 0.690 2.339 D T T T D D 4.375 31 1.000 D D 0.770 8.219 0.733 8.421 1.000 0.707 0.624 0.616 0.714 . 5.580 4.660 9.300 1.176 0.676 1.000 1.000 0.998 790 . . . ID=COSV99819567;OCCURENCE=1(upper_aerodigestive_tract) NAV1 61 0 81 6 0.0689655172413793 TRUE NA ENSG00000198626.17 . BCM GRCh38.p13 chr1 237595505 237595505 + C C T Missense_Mutation SNP ENST00000366574.7 exon34 c.C4444T p.R1482C exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon34:c.C4444T:p.R1482C 1q43 C3N-03439 1.662e-05 0 0 0 0 1.502e-05 0 6.064e-05 rs564869863 11.19 T . D P N D M T D 0.743 T T D 0.330 . 0.495 1.325 D D T T D D 3.839 26.000 0.999 D D 0.638 6.337 0.628 6.589 0.999 0.638 0.574 0.653 0.564 . 5.000 5.000 3.985 1.016 0.587 1.000 1.000 1.000 934 0.000 . . ID=COSV63679506;OCCURENCE=1(breast),4(large_intestine),1(haematopoietic_and_lymphoid_tissue),2(pancreas) RYR2 273 0 402 34 0.0779816513761468 TRUE TRUE ENSG00000134317.18 . BCM GRCh38.p13 chr2 10000697 10000697 + C C T Missense_Mutation SNP ENST00000324907.14 exon16 c.C1847T p.T616M exonic ENSG00000134317.18 . nonsynonymous SNV ENSG00000134317.18:ENST00000324907.14:exon16:c.C1847T:p.T616M 2p25.1 C3N-03439 1.657e-05 0 0 0 0 3.011e-05 0 0 rs143356570 6.20 T T P B D D L T N 0.660 T T D 0.244 . 0.082 1.183 T T T T T D 2.507 22.400 0.998 D D 0.447 4.650 0.546 5.608 1.000 0.615 0.574 0.659 0.568 . 6.040 6.040 5.742 1.026 0.599 1.000 0.986 0.966 797 . . . ID=COSV61215741;OCCURENCE=1(stomach) GRHL1 71 0 137 13 0.0866666666666667 TRUE TRUE ENSG00000179915.23 . BCM GRCh38.p13 chr2 49943749 49943749 + C C T Missense_Mutation SNP ENST00000406316.6 exon21 c.G4081A p.D1361N exonic ENSG00000179915.23 . nonsynonymous SNV ENSG00000179915.23:ENST00000406316.6:exon21:c.G4081A:p.D1361N 2p16.3 C3N-03439 . . . . . . . . . 11.20 D D P B U D M T D 0.825 T T D 0.394 0.293 0.849 1.557 D T T T D D 3.281 24.100 0.999 D D 0.581 5.732 0.643 6.809 1.000 0.638 0.574 0.653 0.564 . 5.810 5.810 7.848 1.026 0.599 1.000 0.985 0.967 910 . . . ID=COSV60526410;OCCURENCE=1(skin) NRXN1 314 0 506 54 0.0964285714285714 TRUE TRUE ENSG00000136535.15 . BCM GRCh38.p13 chr2 161423734 161423734 + C C T Missense_Mutation SNP ENST00000389554.8 exon6 c.C1556T p.A519V exonic ENSG00000136535.15 . nonsynonymous SNV ENSG00000136535.15:ENST00000389554.8:exon6:c.C1556T:p.A519V 2q24.2 C3N-03439 . . . . . . . . . 16.20 D T D D U D M D N 0.526 D D D 0.554 0.472 0.471 . D T D D D D 3.710 25.400 0.999 D D 0.395 4.314 0.326 3.871 1.000 0.598 0.596 0.607 0.604 . 3.570 3.570 5.308 0.866 0.452 1.000 0.995 0.981 699 T-box_transcription_factor-associated . . . TBR1 154 0 223 36 0.138996138996139 TRUE TRUE ENSG00000153253.18 . BCM GRCh38.p13 chr2 165091271 165091271 + T T C Missense_Mutation SNP ENST00000360093.7 exon28 c.A4882G p.I1628V exonic ENSG00000153253.18 . nonsynonymous SNV ENSG00000153253.18:ENST00000360093.7:exon28:c.A4882G:p.I1628V 2q24.3 C3N-03439 . . . . . . . . . 17.20 D T D D D D L D N 0.587 D D D 0.653 0.629 0.911 0.899 D D D D D D 3.603 25.000 0.997 D D 0.519 5.188 0.610 6.354 1.000 0.487 0.574 0.574 0.564 . 6.070 6.070 7.960 1.138 0.609 1.000 0.997 0.980 812 Ion_transport_domain . . . SCN3A 383 0 565 62 0.0988835725677831 NA TRUE ENSG00000079308.19 . BCM GRCh38.p13 chr2 217809875 217809875 + C C G Missense_Mutation SNP ENST00000171887.8 exon30 c.G4909C p.V1637L exonic ENSG00000079308.19 . nonsynonymous SNV ENSG00000079308.19:ENST00000171887.8:exon30:c.G4909C:p.V1637L 2q35 C3N-03439 . . . . . . . . . 14.20 D D B B D D M T D 0.793 T T D 0.408 0.622 0.487 0.123 D T D D D D 3.154 23.800 0.993 D D 0.235 3.463 0.264 3.516 1.000 0.707 0.590 0.659 0.714 . 4.380 3.500 7.774 0.918 0.564 1.000 1.000 1.000 940 Tensin,_phosphotyrosine-binding_domain;PTB/PI_domain;Tensin/EPS8_phosphotyrosine-binding_domain . . . TNS1 170 0 250 22 0.0808823529411765 TRUE TRUE ENSG00000124006.15 . BCM GRCh38.p13 chr2 219559317 219559317 + C C T Missense_Mutation SNP ENST00000404537.6 exon9 c.G3134A p.R1045H exonic ENSG00000124006.15 . nonsynonymous SNV ENSG00000124006.15:ENST00000404537.6:exon9:c.G3134A:p.R1045H 2q35 C3N-03439 1.657e-05 0 0 0 0 2.999e-05 0 0 rs750084343 11.19 D D D D . D L T D 0.701 T T D 0.171 . 0.491 0.735 T T T T D D 3.664 25.300 1.000 D D 0.526 5.247 0.469 4.884 1.000 0.635 0.574 0.644 0.586 . 4.340 4.340 6.038 1.026 0.549 1.000 0.964 0.884 114 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV54707421;OCCURENCE=1(liver),1(large_intestine) OBSL1 193 0 281 38 0.119122257053292 TRUE TRUE ENSG00000182177.14 . BCM GRCh38.p13 chr2 236195057 236195057 + T T C Missense_Mutation SNP ENST00000409749.7 exon6 c.A1216G p.M406V exonic ENSG00000182177.14 . nonsynonymous SNV ENSG00000182177.14:ENST00000409749.7:exon6:c.A1216G:p.M406V 2q37.2 C3N-03439 1.787e-05 0.0001 9.404e-05 0 0 0 0 0 rs757623786 0.19 T T B B . N L T N 0.099 T T T 0.033 . 0.081 0.082 T T T T T T 1.151 13.230 0.851 N N -0.777 0.688 -0.662 0.955 0.005 0.497 0.590 0.547 0.613 . 4.640 0.762 -0.068 1.138 0.665 0.473 0.968 0.941 987 SOCS_box_domain . . . ASB18 61 0 77 11 0.125 TRUE NA ENSG00000182973.18 . BCM GRCh38.p13 chr3 32720117 32720117 + G G A Missense_Mutation SNP ENST00000328834.9 exon8 c.G748A p.A250T exonic ENSG00000182973.18 . nonsynonymous SNV ENSG00000182973.18:ENST00000328834.9:exon8:c.G748A:p.A250T 3p22.3 C3N-03439 0 0 0 0 0 0 0 0 rs752322117 6.20 T T B B D D N T N 0.487 T T T 0.215 0.243 0.468 0.263 D T T T T D 2.695 22.800 0.983 D D -0.035 2.390 0.214 3.254 1.000 0.732 0.744 0.710 0.728 . 5.910 5.910 6.898 1.167 0.676 1.000 0.998 0.985 752 . . . ID=COSV59391121;OCCURENCE=1(large_intestine),1(stomach) CNOT10 25 0 53 8 0.131147540983607 TRUE TRUE ENSG00000174004.6 . BCM GRCh38.p13 chr3 196660371 196660371 + C C T Missense_Mutation SNP ENST00000328557.5 exon3 c.C728T p.A243V exonic ENSG00000174004.6 . nonsynonymous SNV ENSG00000174004.6:ENST00000328557.5:exon3:c.C728T:p.A243V 3q29 C3N-03439 . . . . . . . . rs572343955 8.19 D T D P D D . T N 0.343 T T D 0.325 0.643 0.401 1.148 T T T T D T 3.051 23.500 0.999 D D 0.459 4.731 0.470 4.893 1.000 0.706 0.698 0.710 0.636 . 5.950 5.950 6.144 1.026 0.599 1.000 0.276 0.037 501 . . . ID=COSV60746064;OCCURENCE=1(large_intestine),1(stomach) NRROS 246 0 333 44 0.116710875331565 TRUE TRUE ENSG00000007062.11 . BCM GRCh38.p13 chr4 16013299 16013299 + G G A Missense_Mutation SNP ENST00000510224.5 exon11 c.C1117T p.R373C exonic ENSG00000007062.11 . nonsynonymous SNV ENSG00000007062.11:ENST00000510224.5:exon11:c.C1117T:p.R373C 4p15.32 C3N-03439 . . . . . . . . rs137853006 5.20 D D P B N A N T D 0.670 T T T 0.281 0.819 0.561 0.018 T D T T T T 0.915 10.590 0.923 N N -1.187 0.236 -1.264 0.234 0.059 0.707 0.590 0.725 0.542 . 5.030 -0.568 0.303 -0.580 -1.616 0.001 0.021 0.000 923 . . . ID=COSV101477144;OCCURENCE=1(large_intestine) PROM1 103 0 197 11 0.0528846153846154 TRUE NA ENSG00000145337.5 . BCM GRCh38.p13 chr4 88521955 88521955 + T T A Missense_Mutation SNP ENST00000273968.5 exon2 c.A278T p.N93I exonic ENSG00000145337.5 . nonsynonymous SNV ENSG00000145337.5:ENST00000273968.5:exon2:c.A278T:p.N93I 4q22.1 C3N-03439 . . . . . . . . . 10.18 T T D D D . N . D 0.743 T T T 0.600 0.453 0.458 . T T D D D D 4.060 27.400 0.937 D D 0.278 3.666 0.289 3.654 1.000 0.706 0.581 0.710 0.651 . 4.860 3.650 7.032 0.966 0.661 1.000 1.000 0.998 796 . . . . PYURF 122 0 204 11 0.0511627906976744 TRUE TRUE ENSG00000212122.4 . BCM GRCh38.p13 chr5 113434716 113434716 + T T A Missense_Mutation SNP ENST00000390666.4 exon1 c.A124T p.I42F exonic ENSG00000212122.4 . nonsynonymous SNV ENSG00000212122.4:ENST00000390666.4:exon1:c.A124T:p.I42F 5q22.2 C3N-03439 . . . . . . . . . 9.20 D D D D U D L T D 0.382 T T T 0.265 0.727 0.454 0.625 T T T T D D 2.677 22.800 0.989 D N 0.365 4.133 0.243 3.401 0.468 0.497 0.590 0.547 0.542 . 2.670 2.670 2.690 0.634 0.665 1.000 0.163 0.781 922 Protein_kinase_domain . . . TSSK1B 256 0 353 32 0.0831168831168831 TRUE TRUE ENSG00000221900.6 . BCM GRCh38.p13 chr7 53035885 53035885 + G G A Missense_Mutation SNP ENST00000408890.6 exon1 c.G214A p.V72M exonic ENSG00000221900.6 . nonsynonymous SNV ENSG00000221900.6:ENST00000408890.6:exon1:c.G214A:p.V72M 7p12.1 C3N-03439 . . . . . . . . . 1.19 D T P B . N N T N 0.108 T T T 0.100 0.095 0.040 0.089 T T T T T T 0.259 3.811 0.886 N N -1.115 0.293 -1.276 0.225 0.000 0.487 0.574 0.547 0.564 . 1.940 -1.490 -0.333 0.597 0.347 0.000 0.008 0.003 981 . . . . POM121L12 247 0 391 29 0.0690476190476191 TRUE TRUE ENSG00000158321.18 . BCM GRCh38.p13 chr7 69899325 69899325 + C C T Missense_Mutation SNP ENST00000342771.10 exon2 c.C349T p.R117C exonic ENSG00000158321.18 . nonsynonymous SNV ENSG00000158321.18:ENST00000342771.10:exon2:c.C349T:p.R117C 7q11.22 C3N-03439 0.0002 0.0013 0.0002 0.0003 0 0 0 0 rs142957106 6.20 D D P B N D L T D 0.523 T T T 0.093 . 0.139 0.750 T T T T T D 2.497 22.400 0.998 D N 0.220 3.392 0.289 3.652 1.000 0.722 0.699 0.618 0.564 . 5.650 4.750 1.563 1.026 0.599 0.975 0.988 0.995 755 . . . ID=COSV61384925;OCCURENCE=1(breast),1(oesophagus),2(biliary_tract),1(stomach),1(prostate) AUTS2 292 0 408 35 0.0790067720090293 TRUE TRUE ENSG00000186088.16 . BCM GRCh38.p13 chr7 77323683 77323683 + T T G Missense_Mutation SNP ENST00000257626.12 exon24 c.A1887C p.K629N exonic ENSG00000186088.16 . nonsynonymous SNV ENSG00000186088.16:ENST00000257626.12:exon24:c.A1887C:p.K629N 7q11.23 C3N-03439 . . . . . . . . . 5.20 D T B B D D L T N 0.518 T T T 0.093 0.322 0.208 0.276 T T T T D T 2.466 22.300 0.996 D N -0.020 2.441 0.063 2.589 1.000 0.651 0.709 0.602 0.568 . 5.480 3.060 1.740 1.138 0.665 1.000 1.000 0.999 449 . . . . GSAP 108 0 166 14 0.0777777777777778 TRUE TRUE ENSG00000019991.18 . BCM GRCh38.p13 chr7 81707361 81707361 + A A C Missense_Mutation SNP ENST00000222390.11 exon14 c.T1545G p.N515K exonic ENSG00000019991.18 . nonsynonymous SNV ENSG00000019991.18:ENST00000222390.11:exon14:c.T1545G:p.N515K 7q21.11 C3N-03439 . . . . . . . . . 9.20 T T D P D D N D N 0.444 T T D 0.514 0.768 0.839 0.614 T D T T D T 2.957 23.300 0.996 D D 0.393 4.301 0.430 4.581 1.000 0.487 0.574 0.574 0.564 . 5.550 4.400 2.244 1.288 0.756 1.000 1.000 1.000 826 Serine_proteases,_trypsin_domain . . . HGF 217 1 373 24 0.0604534005037783 TRUE TRUE ENSG00000001626.16 . BCM GRCh38.p13 chr7 117602835 117602835 + T T G Missense_Mutation SNP ENST00000003084.11 exon16 c.T2629G p.S877A exonic ENSG00000001626.16 . nonsynonymous SNV ENSG00000001626.16:ENST00000003084.11:exon16:c.T2629G:p.S877A 7q31.2 C3N-03439 1.647e-05 0 0 0 0 0 0 0.0001 rs761531223 11.20 T D B B D D M D N 0.510 D D D 0.435 0.554 0.994 0.004 T T T D T T 1.674 16.850 0.983 D D 0.020 2.582 0.050 2.539 1.000 0.554 0.574 0.602 0.564 . 5.920 5.920 4.633 1.134 0.661 0.998 0.980 0.635 857 ABC_transporter_type_1,_transmembrane_domain . . . CFTR 487 2 590 191 0.244558258642766 TRUE NA ENSG00000168079.17 . BCM GRCh38.p13 chr8 27922045 27922045 + G G A Missense_Mutation SNP ENST00000354914.8 exon4 c.C442T p.R148W exonic ENSG00000168079.17 . nonsynonymous SNV ENSG00000168079.17:ENST00000354914.8:exon4:c.C442T:p.R148W 8p21.1 C3N-03439 . . . . . . . . . 15.20 D D D D N D L D D 0.568 D D D 0.572 0.439 0.900 0.808 T T D T D D 3.235 24.000 0.981 D D -0.385 1.416 -0.443 1.297 1.000 0.497 0.590 0.578 0.542 . 4.560 -0.473 0.318 -0.265 -0.199 0.404 0.993 0.968 851 . . . ID=COSV57276967;OCCURENCE=1(breast),1(pancreas) SCARA5 89 0 124 11 0.0814814814814815 NA TRUE ENSG00000122733.12 . BCM GRCh38.p13 chr9 34971555 34971555 + G G A Missense_Mutation SNP ENST00000242315.3 exon2 c.G257A p.R86H exonic ENSG00000122733.12 . nonsynonymous SNV ENSG00000122733.12:ENST00000242315.3:exon2:c.G257A:p.R86H 9p13.3 C3N-03439 . . . . . . . . . 10.18 D D D D D D . . N 0.318 T T T 0.148 0.225 0.467 1.276 T T T T D D 3.695 25.400 1.000 D D 0.721 7.421 0.738 8.528 1.000 0.554 0.590 0.602 0.542 . 6.030 6.030 5.172 1.176 0.676 1.000 0.979 0.901 268 . . . . PHF24 252 0 332 27 0.0752089136490251 TRUE TRUE ENSG00000154330.13 . BCM GRCh38.p13 chr9 68357240 68357240 + G G A Missense_Mutation SNP ENST00000396396.6 exon1 c.G113A p.R38H exonic ENSG00000154330.13 . nonsynonymous SNV ENSG00000154330.13:ENST00000396396.6:exon1:c.G113A:p.R38H 9q21.11 C3N-03439 . . . . . . . . . 9.20 D D D P U D L T N 0.271 T T D 0.180 0.559 0.043 2.782 D T T T D D 4.128 28.000 0.999 D N 0.220 3.391 0.191 3.141 0.928 0.583 0.476 0.608 0.621 . 3.120 3.120 0.717 0.969 -0.373 0.930 0.998 0.882 988 Alpha-D-phosphohexomutase,_alpha/beta/alpha_domain_I . . . PGM5 223 0 355 39 0.0989847715736041 NA TRUE ENSG00000185585.20 . BCM GRCh38.p13 chr9 124807942 124807942 + C C T Missense_Mutation SNP ENST00000373580.8 exon7 c.C1330T p.R444C exonic ENSG00000185585.20 . nonsynonymous SNV ENSG00000185585.20:ENST00000373580.8:exon7:c.C1330T:p.R444C 9q33.3 C3N-03439 2.481e-05 0 0 0 0 1.503e-05 0 0.0001 rs765039347 19.20 D D D D D D M D D 0.970 D D D 0.763 0.731 0.749 0.598 T D D D D D 4.166 28.300 0.999 D D 0.805 8.877 0.772 9.358 1.000 0.646 0.588 0.645 0.613 . 5.680 5.680 4.086 1.022 0.596 1.000 0.984 0.995 828 Olfactomedin-like_domain . . ID=COSV56584456;OCCURENCE=1(large_intestine) OLFML2A 102 0 129 10 0.0719424460431655 TRUE TRUE ENSG00000130635.16 . BCM GRCh38.p13 chr9 134701256 134701256 + C C T Missense_Mutation SNP ENST00000371817.8 exon4 c.C577T p.R193C exonic ENSG00000130635.16 . nonsynonymous SNV ENSG00000130635.16:ENST00000371817.8:exon4:c.C577T:p.R193C 9q34.3 C3N-03439 8.397e-06 0 0 0 0 1.529e-05 0 0 rs765170704 17.20 D D D D U D H T D 0.921 D D D 0.785 0.833 0.908 0.755 T D D D D D 3.549 24.900 0.998 D D 0.728 7.528 0.614 6.405 1.000 0.672 0.590 0.805 0.711 . 5.070 5.070 1.457 1.026 0.549 0.742 0.309 0.211 940 Laminin_G_domain . . ID=COSV65667693;OCCURENCE=1(stomach),1(haematopoietic_and_lymphoid_tissue),1(urinary_tract),1(lung) COL5A1 536 0 665 68 0.0927694406548431 TRUE TRUE ENSG00000175216.15 . BCM GRCh38.p13 chr11 46778259 46778259 + A A C Missense_Mutation SNP ENST00000529230.6 exon22 c.T2628G p.I876M exonic ENSG00000175216.15 . nonsynonymous SNV ENSG00000175216.15:ENST00000529230.6:exon22:c.T2628G:p.I876M 11p11.2 C3N-03439 . . . . . . . . . 9.20 T D D D D D L T N 0.611 T T T 0.370 0.492 0.635 0.774 T T D T D D 2.676 22.800 0.993 D N -0.094 2.194 -0.145 1.923 0.138 0.707 0.725 0.725 0.711 . 5.690 -2.400 1.141 -0.157 -0.156 1.000 0.997 0.996 12 CLASP_N-terminal_domain;TOG_domain . . . CKAP5 188 1 276 18 0.0612244897959184 TRUE TRUE ENSG00000176200.1 . BCM GRCh38.p13 chr11 59503853 59503853 + C C A Missense_Mutation SNP ENST00000313253.1 exon1 c.C278A p.S93Y exonic ENSG00000176200.1 . nonsynonymous SNV ENSG00000176200.1:ENST00000313253.1:exon1:c.C278A:p.S93Y 11q12.1 C3N-03439 4.119e-05 0 0 0 0 7.493e-05 0 0 rs371625986 8.20 D D D P D N H T D 0.782 T T T 0.170 . 0.723 0.046 T T T T D D 2.539 22.500 0.993 N N 0.593 5.857 0.472 4.915 0.843 0.428 0.469 0.547 0.613 . 5.440 5.440 1.839 1.022 0.526 0.425 0.087 0.945 308 GPCR,_rhodopsin-like,_7TM . . . OR4D11 159 0 278 26 0.0855263157894737 TRUE NA ENSG00000110446.11 . BCM GRCh38.p13 chr11 60946791 60946791 + G G A Missense_Mutation SNP ENST00000227880.8 exon2 c.C589T p.R197C exonic ENSG00000110446.11 . nonsynonymous SNV ENSG00000110446.11:ENST00000227880.8:exon2:c.C589T:p.R197C 11q12.2 C3N-03439 0.0007 0 0 0.0006 0 0 0.0022 0.0051 rs528183979 12.20 D D D D D D M T D 0.653 T T D 0.520 0.703 0.773 0.576 T T T D T D 4.080 27.600 0.999 D N 0.525 5.239 0.448 4.717 1.000 0.696 0.672 0.723 0.542 . 4.650 3.720 1.763 1.065 0.597 0.977 0.997 0.970 596 . . . ID=COSV99928610;OCCURENCE=1(endometrium) SLC15A3 122 0 181 19 0.095 TRUE NA ENSG00000196248.5 . BCM GRCh38.p13 chr11 123977189 123977189 + G G A Missense_Mutation SNP ENST00000531945.1 exon1 c.C503T p.T168M exonic ENSG00000196248.5 . nonsynonymous SNV ENSG00000196248.5:ENST00000531945.1:exon1:c.C503T:p.T168M 11q24.1 C3N-03439 4.119e-05 0 0 0 0 7.493e-05 0 0 rs777181185 0.20 T T B B N N N T N 0.046 T T T 0.012 0.382 0.099 0.082 T T T T T T 0.143 2.501 0.891 N N -1.331 0.149 -1.329 0.191 0.947 0.487 0.574 0.574 0.613 . 4.890 -1.720 1.650 -0.182 -0.363 0.041 0.002 0.216 848 GPCR,_rhodopsin-like,_7TM . . ID=COSV73343037;OCCURENCE=1(prostate) OR10S1 251 0 367 51 0.12200956937799 TRUE TRUE ENSG00000151079.7 . BCM GRCh38.p13 chr12 4810439 4810439 + C C T Missense_Mutation SNP ENST00000280684.3 exon1 c.C398T p.A133V exonic ENSG00000151079.7 . nonsynonymous SNV ENSG00000151079.7:ENST00000280684.3:exon1:c.C398T:p.A133V 12p13.32 C3N-03439 . . . . . . . . . 5.20 D T B B N D L T N 0.165 T T D 0.224 0.548 0.464 1.573 T T T T D D 1.859 18.170 0.998 N N -0.191 1.903 -0.105 2.031 1.000 0.658 0.542 0.619 0.616 . 4.870 4.870 -0.186 0.125 -0.180 0.000 0.944 0.788 814 BTB/POZ_domain . . . KCNA6 278 0 376 49 0.115294117647059 TRUE TRUE ENSG00000173262.11 . BCM GRCh38.p13 chr12 7831632 7831632 + C C T Missense_Mutation SNP ENST00000543909.5 exon9 c.G313A p.V105I exonic ENSG00000173262.11 . nonsynonymous SNV ENSG00000173262.11:ENST00000543909.5:exon9:c.G313A:p.V105I 12p13.31 C3N-03439 . . . . . . . . . 6.20 T T B B D D L T N 0.445 T T T 0.339 0.740 0.300 0.308 T T T T D D 1.501 15.740 0.995 D D -0.107 2.152 -0.001 2.354 1.000 0.625 0.574 0.650 0.613 . 3.600 3.600 5.189 0.753 0.306 1.000 0.809 0.075 929 Major_facilitator_superfamily_domain . . ID=COSV61587737;OCCURENCE=1(large_intestine),1(ovary),1(urinary_tract),1(kidney) SLC2A14 166 0 230 24 0.094488188976378 NA TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-03439 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 282 0 405 42 0.0939597315436242 TRUE TRUE ENSG00000139211.6 . BCM GRCh38.p13 chr12 47077867 47077867 + G G A Missense_Mutation SNP ENST00000266581.4 exon2 c.C1136T p.T379I exonic ENSG00000139211.6 . nonsynonymous SNV ENSG00000139211.6:ENST00000266581.4:exon2:c.C1136T:p.T379I 12q13.11 C3N-03439 . . . . . . . . . 4.20 T T B B N N L D N 0.208 T D D 0.177 0.430 0.546 0.657 T T T T T T 2.294 21.500 0.986 D N -0.311 1.588 -0.162 1.880 1.000 0.644 0.563 0.645 0.632 . 5.020 3.000 1.546 0.236 0.662 0.918 0.932 0.997 647 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . AMIGO2 162 0 252 18 0.0666666666666667 TRUE TRUE ENSG00000123384.14 . BCM GRCh38.p13 chr12 57143715 57143715 + A A G Missense_Mutation SNP ENST00000243077.8 exon4 c.A365G p.H122R exonic ENSG00000123384.14 . nonsynonymous SNV ENSG00000123384.14:ENST00000243077.8:exon4:c.A365G:p.H122R 12q13.3 C3N-03439 . . . . . . . . . 14.20 D D P B N D M D D 0.450 D D D 0.241 0.606 0.802 . T T D D D T 2.985 23.400 0.987 D D 0.187 3.248 0.278 3.593 1.000 0.707 0.610 0.725 0.616 . 4.810 4.810 4.132 1.312 0.756 1.000 1.000 1.000 237 EGF-like_domain;EGF-like_calcium-binding_domain . . . LRP1 173 1 247 24 0.0885608856088561 TRUE TRUE ENSG00000118600.12 . BCM GRCh38.p13 chr12 63808983 63808983 + T T A Missense_Mutation SNP ENST00000261234.11 exon6 c.T1223A p.I408N exonic ENSG00000118600.12 . nonsynonymous SNV ENSG00000118600.12:ENST00000261234.11:exon6:c.T1223A:p.I408N 12q14.2 C3N-03439 . . . . . . . . . 10.18 D D D P D D . . D 0.627 T T T 0.189 0.421 0.165 0.763 T T T T D D 3.891 26.300 0.994 D D 0.554 5.487 0.540 5.545 0.994 0.732 0.744 0.602 0.613 . 4.960 4.960 4.457 1.138 0.665 1.000 1.000 0.234 922 . . . . RXYLT1 146 0 242 34 0.123188405797101 TRUE TRUE ENSG00000110987.9 . BCM GRCh38.p13 chr12 122054913 122054913 + C C T Missense_Mutation SNP ENST00000261822.5 exon5 c.C548T p.S183F exonic ENSG00000110987.9 . nonsynonymous SNV ENSG00000110987.9:ENST00000261822.5:exon5:c.C548T:p.S183F 12q24.31 C3N-03439 . . . . . . . . . 8.19 D D D D N N M T N 0.493 T T D 0.161 0.294 0.558 0.915 T T T T D . 3.581 25.000 0.996 D N -0.133 2.074 -0.166 1.870 1.000 0.707 0.654 0.725 0.636 . 6.070 4.220 3.797 0.947 0.599 0.871 0.952 0.768 722 . . . . BCL7A 233 0 316 36 0.102272727272727 TRUE TRUE ENSG00000133103.17 . BCM GRCh38.p13 chr13 39659447 39659447 + T T G Missense_Mutation SNP ENST00000455146.8 exon2 c.T237G p.I79M exonic ENSG00000133103.17 . nonsynonymous SNV ENSG00000133103.17:ENST00000455146.8:exon2:c.T237G:p.I79M 13q14.11 C3N-03439 . . . . . . . . . 14.20 D D D D D D M T D 0.956 T T D 0.446 0.737 0.460 0.352 T T D D D D 3.136 23.700 0.716 D N 0.323 3.901 0.235 3.358 1.000 0.706 0.710 0.659 0.613 . 5.430 1.490 0.352 1.138 0.665 0.999 0.998 0.997 672 . . . . COG6 229 0 340 40 0.105263157894737 TRUE TRUE ENSG00000102466.15 . BCM GRCh38.p13 chr13 101916462 101916462 + G G A Missense_Mutation SNP ENST00000376143.4 exon1 c.C184T p.R62W exonic ENSG00000102466.15 . nonsynonymous SNV ENSG00000102466.15:ENST00000376143.4:exon1:c.C184T:p.R62W 13q33.1 C3N-03439 . . . . . . . . rs868433062 14.18 D D D D . D L T D 0.535 D D D 0.511 0.495 0.667 . . D T T D D 1.908 18.550 0.999 D D 0.378 4.208 0.308 3.765 1.000 0.598 0.616 0.607 0.639 . 5.360 4.510 1.327 0.190 0.676 1.000 1.000 0.999 874 . . . ID=COSV65951449;OCCURENCE=3(stomach),1(urinary_tract) FGF14 558 0 775 70 0.0828402366863905 TRUE TRUE ENSG00000182107.7 . BCM GRCh38.p13 chr14 61280247 61280247 + G G A Missense_Mutation SNP ENST00000555868.2 exon1 c.C901T p.L301F exonic ENSG00000182107.7 . nonsynonymous SNV ENSG00000182107.7:ENST00000555868.2:exon1:c.C901T:p.L301F 14q23.1 C3N-03439 . . . . . . . . . 4.19 D D B B N N L . N 0.114 T T T 0.092 0.535 0.030 . T T T T D T 3.253 24.000 0.991 D N -0.188 1.910 -0.070 2.134 1.000 0.789 0.563 0.768 0.555 . 4.670 3.760 2.780 1.176 0.676 0.998 0.980 1.000 301 . . . ID=COSV63133081;OCCURENCE=1(oesophagus) TMEM30B 274 0 360 38 0.0954773869346734 TRUE TRUE ENSG00000100596.6 . BCM GRCh38.p13 chr14 77512298 77512298 + C C T Missense_Mutation SNP ENST00000216484.6 exon12 c.G1675A p.E559K exonic ENSG00000100596.6 . nonsynonymous SNV ENSG00000100596.6:ENST00000216484.6:exon12:c.G1675A:p.E559K 14q24.3 C3N-03439 . . . . . . . . . 13.20 D T P B D D L D N 0.689 D D D 0.628 0.451 0.649 0.593 T T D D D D 3.159 23.800 0.999 D D 0.293 3.741 0.428 4.559 1.000 0.707 0.725 0.725 0.711 . 5.560 5.560 5.600 1.026 0.599 1.000 0.978 0.818 806 . . . . SPTLC2 391 0 632 73 0.10354609929078 TRUE TRUE ENSG00000137766.17 . BCM GRCh38.p13 chr15 54015642 54015642 + T T - Frame_Shift_Del NA ENST00000260323.15 exon1 c.2739delT p.Y914Mfs*22 exonic ENSG00000137766.17 . frameshift deletion ENSG00000137766.17:ENST00000260323.15:exon1:c.2739delT:p.Y914Mfs*22 15q21.3 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13C 53 0 95 7 0.0686274509803922 NA TRUE ENSG00000182854.8 . BCM GRCh38.p13 chr15 101819082 101819082 + G G A Missense_Mutation SNP ENST00000332238.5 exon2 c.G896A p.R299K exonic ENSG00000182854.8 . nonsynonymous SNV ENSG00000182854.8:ENST00000332238.5:exon2:c.G896A:p.R299K 15q26.3 C3N-03439 . . . . . . . . . 0.19 T T B B . N N T N 0.029 T T T 0.106 0.522 0.197 0.010 T T T T T T 0.342 4.775 0.592 N N -0.942 0.469 -0.916 0.598 0.000 0.487 0.574 0.574 0.564 . 5.460 -0.465 -0.848 -0.584 0.671 0.000 0.364 0.299 819 . . . . OR4F15 81 0 145 10 0.0645161290322581 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674872 7674872 + T T C Missense_Mutation SNP ENST00000269305.8 exon6 c.A659G p.Y220C exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon6:c.A659G:p.Y220C 17p13.1 C3N-03439 2.503e-05 0 0 0 0 4.543e-05 0 0 rs121912666 19.20 D D D D D D M D D 0.914 D D D 0.936 0.938 0.982 1.856 T D D D D D 4.457 32 0.998 D D 0.750 7.886 0.664 7.134 1.000 0.732 0.698 0.744 0.735 . 5.280 5.280 6.252 1.138 0.665 1.000 0.994 0.998 433 p53,_DNA-binding_domain . . ID=COSV52661282;OCCURENCE=4(salivary_gland),70(breast),1(penis),1(peritoneum),15(liver),48(oesophagus),38(large_intestine),35(central_nervous_system),3(biliary_tract),1(vulva),63(ovary),1(pleura),2(bone),1(NS),29(stomach),56(haematopoietic_and_lymphoid_tissue),2(kidney),18(urinary_tract),14(soft_tissue),17(pancreas),1(pituitary),2(skin),20(prostate),51(lung),4(thyroid),43(upper_aerodigestive_tract),3(small_intestine),12(endometrium) TP53 351 0 401 48 0.106904231625835 TRUE TRUE ENSG00000062725.10 . BCM GRCh38.p13 chr17 60466292 60466292 + T T C Missense_Mutation SNP ENST00000083182.8 exon5 c.A671G p.E224G exonic ENSG00000062725.10 . nonsynonymous SNV ENSG00000062725.10:ENST00000083182.8:exon5:c.A671G:p.E224G 17q23.2 C3N-03439 . . . . . . . . . 13.20 D T P P D D L T D 0.862 D D D 0.769 0.467 0.864 1.417 T T D D D D 5.031 33 0.997 D D 0.557 5.511 0.581 5.991 1.000 0.706 0.725 0.710 0.714 . 5.150 5.150 7.578 1.138 0.665 1.000 1.000 0.993 662 . . . . APPBP2 78 0 165 21 0.112903225806452 TRUE TRUE ENSG00000206432.4 . BCM GRCh38.p13 chr18 5890974 5890974 + G G A Missense_Mutation SNP ENST00000581347.2 exon3 c.C1090T p.R364C exonic ENSG00000206432.4 . nonsynonymous SNV ENSG00000206432.4:ENST00000581347.2:exon3:c.C1090T:p.R364C 18p11.31 C3N-03439 . . . . . . . . . 10.18 D D D P . D L . D 0.314 T T D 0.227 0.136 0.281 . D T T T D T 4.512 32 0.999 D D 0.206 3.330 0.227 3.317 1.000 0.652 0.541 0.641 0.555 . 3.630 3.630 4.193 0.873 0.502 0.984 1.000 0.995 981 . . . . TMEM200C 237 0 285 22 0.0716612377850163 TRUE TRUE ENSG00000250799.10 . BCM GRCh38.p13 chr19 35802191 35802191 + C C A Missense_Mutation SNP ENST00000301175.7 exon10 c.G1426T p.G476W exonic ENSG00000250799.10 . nonsynonymous SNV ENSG00000250799.10:ENST00000301175.7:exon10:c.G1426T:p.G476W 19q13.12 C3N-03439 . . . . . . . . . 12.18 D D D D . D . T D 0.652 T T T 0.408 0.726 0.546 0.666 T D D D D T 5.874 35 0.995 D D 0.888 10.737 0.822 10.815 1.000 0.497 0.590 0.547 0.542 . 5.200 5.200 6.447 1.026 0.599 1.000 0.943 0.777 729 Proline_dehydrogenase_domain . . . PRODH2 189 0 346 41 0.10594315245478 TRUE TRUE ENSG00000154734.15 . BCM GRCh38.p13 chr21 26840001 26840001 + C C T Missense_Mutation SNP ENST00000284984.8 exon6 c.G1726A p.G576S exonic ENSG00000154734.15 . nonsynonymous SNV ENSG00000154734.15:ENST00000284984.8:exon6:c.G1726A:p.G576S 21q21.3 C3N-03439 0.0006 0.0064 0.0003 0.0001 0 8.997e-05 0 0 rs146313892 14.19 D D D D . D M T D 0.855 D D D 0.646 . 0.818 0.887 T T T D T D 3.561 24.900 0.998 D D 0.854 9.919 0.743 8.647 1.000 0.707 0.574 0.702 0.714 . 5.110 5.110 7.568 1.026 0.599 1.000 0.928 0.127 828 . . . ID=COSV99535701;OCCURENCE=1(breast) ADAMTS1 154 1 212 17 0.074235807860262 TRUE NA ENSG00000147118.12 . BCM GRCh38.p13 chrX 47977228 47977228 + C C A Nonsense_Mutation SNP ENST00000396965.5 exon7 c.G859T p.E287X exonic ENSG00000147118.12 . stopgain ENSG00000147118.12:ENST00000396965.5:exon7:c.G859T:p.E287X Xp11.23 C3N-03439 . . . . . . . . . 3.4 . . . . . D . . . 0.212 . . . . . . . . . D D . . 6.399 36 0.997 N . . . . . 0.886 . . . . . 4.530 3.670 5.876 0.962 0.524 1.000 0.998 0.997 595 Zinc_finger_C2H2-type . . . ZNF182 112 0 157 16 0.092485549132948 TRUE TRUE ENSG00000187690.4 . BCM GRCh38.p13 chrX 51407455 51407455 + C C T Missense_Mutation SNP ENST00000342995.4 exon1 c.C439T p.R147C exonic ENSG00000187690.4 . nonsynonymous SNV ENSG00000187690.4:ENST00000342995.4:exon1:c.C439T:p.R147C Xp11.22 C3N-03439 . . . . . . . . . 3.17 D T P B N N . T D 0.165 T T T 0.088 0.145 0.204 0.158 . T T T D T 0.858 9.986 0.955 N . . . . . 0.000 . . . . . 3.080 -0.987 -0.961 -0.614 -0.222 0.000 0.001 0.007 242 . . . ID=COSV57957185;OCCURENCE=1(prostate),1(endometrium) EZHIP 278 0 378 46 0.108490566037736 TRUE TRUE ENSG00000050030.15 . BCM GRCh38.p13 chrX 74739466 74739466 + G G T Missense_Mutation SNP ENST00000055682.12 exon4 c.C4490A p.T1497K exonic ENSG00000050030.15 . nonsynonymous SNV ENSG00000050030.15:ENST00000055682.12:exon4:c.C4490A:p.T1497K Xq13.3 C3N-03439 . . . . . . . . . 6.18 D D B B N D . T N 0.477 T T D 0.107 0.323 0.271 0.306 T T T T D T 2.380 22.000 0.983 D . . . . . 0.004 . . . . . 5.500 3.690 3.634 1.175 0.676 1.000 1.000 0.990 103 . . . . NEXMIF 146 0 251 28 0.100358422939068 TRUE TRUE ENSG00000158290.18 . BCM GRCh38.p13 chrX 120543788 120543788 + C C A Missense_Mutation SNP ENST00000404115.7 exon10 c.G1249T p.V417F exonic ENSG00000158290.18 . nonsynonymous SNV ENSG00000158290.18:ENST00000404115.7:exon10:c.G1249T:p.V417F Xq24 C3N-03439 . . . . . . . . . 19.19 D D D D D D M D D 0.854 D D D 0.902 0.776 0.985 1.786 D D D D D D 3.712 25.500 0.995 D . . . . . 1.000 . . . . . 6.030 6.030 7.816 1.026 0.599 1.000 1.000 0.998 937 Cullin,_N-terminal . . . CUL4B 230 0 421 34 0.0747252747252747 TRUE TRUE ENSG00000268089.3 . BCM GRCh38.p13 chrX 152650531 152650531 + G G T Missense_Mutation SNP ENST00000598523.3 exon7 c.G852T p.W284C exonic ENSG00000268089.3 . nonsynonymous SNV ENSG00000268089.3:ENST00000598523.3:exon7:c.G852T:p.W284C Xq28 C3N-03439 . . . . . . . . . 11.12 . D . . D D . D . 0.974 D D D 0.825 0.842 0.788 . T . D D D . 4.318 29.700 0.991 D . . . . . 1.000 . . . . . 6.080 6.080 10.003 1.176 0.676 1.000 0.995 0.972 628 . . . . GABRQ 169 0 278 25 0.0825082508250825 TRUE TRUE ENSG00000126895.15 . BCM GRCh38.p13 chrX 153906245 153906245 + C C T Missense_Mutation SNP ENST00000646375.1 exon3 c.C739T p.R247C exonic ENSG00000126895.15 . nonsynonymous SNV ENSG00000126895.15:ENST00000646375.1:exon3:c.C739T:p.R247C Xq28 C3N-03439 1.147e-05 0 0 0 0 2.103e-05 0 0 rs782715616 1.19 T T B B N N L T N 0.119 T T D 0.048 . 0.977 0.686 T T T T T T 0.791 9.302 0.946 N . . . . . 0.993 . . . . . 3.990 -0.546 -0.039 -0.334 0.539 0.000 0.010 0.006 180 GPCR,_rhodopsin-like,_7TM . . ID=COSV61686551;OCCURENCE=1(breast),1(large_intestine) AVPR2 203 0 312 33 0.0956521739130435 TRUE TRUE ENSG00000155961.5 . BCM GRCh38.p13 chrX 155260982 155260982 + G G A Nonsense_Mutation SNP ENST00000369454.4 exon2 c.C463T p.R155X exonic ENSG00000155961.5 . stopgain ENSG00000155961.5:ENST00000369454.4:exon2:c.C463T:p.R155X Xq28 C3N-03439 . . . . . . . . . 5.5 . . . . D D . . . 0.819 . . . . . . . . . D D . . 7.072 37 0.998 D . . . . . 1.000 . . . . . 5.170 5.170 9.515 1.176 0.676 1.000 1.000 1.000 . Small_GTP-binding_protein_domain . . ID=COSV65624331;OCCURENCE=1(endometrium) RAB39B 147 0 191 37 0.162280701754386 TRUE TRUE ENSG00000060718.22 . BCM GRCh38.p13 chr1 102984193 102984193 + T T G Splice_Site SNP NA NA NA NA splicing ENSG00000060718.22 ENST00000370096.9:exon31:c.2503-2A>C . . 1p21.1 C3N-03439 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.889 33 0.995 D . 1.076 16.524 0.909 14.154 0.998 0.061 0.063 0.063 0.057 0.967 5.200 5.200 7.271 1.138 0.665 1.000 0.532 0.468 856 . . . . COL11A1 118 0 277 25 0.0827814569536424 TRUE TRUE ENSG00000068654.16 . BCM GRCh38.p13 chr2 86033788 86033788 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000068654.16 ENST00000263857.11:exon28:c.4035-1G>T . . 2p11.2 C3N-03439 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.137 33 0.993 D . 0.954 12.529 0.758 8.987 1.000 0.295 0.304 0.138 0.118 0.962 5.380 5.380 5.433 1.026 0.599 0.997 0.135 0.631 680 . . . . POLR1A 82 0 146 12 0.0759493670886076 TRUE TRUE ENSG00000169991.11 . BCM GRCh38.p13 chr1 18910350 18910350 + G G A Silent SNP ENST00000455833.7 exon8 c.C1440T p.S480S exonic ENSG00000169991.11 . synonymous SNV ENSG00000169991.11:ENST00000455833.7:exon8:c.C1440T:p.S480S 1p36.13 C3N-03439 0.0096 0.0018 0.0025 0.0118 0.0080 0.0050 0.0070 0.0329 rs61752549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFFO2 201 0 342 36 0.0952380952380952 TRUE NA ENSG00000198216.12 . BCM GRCh38.p13 chr1 181757952 181757952 + G G A Silent SNP ENST00000367573.7 exon31 c.G4335A p.A1445A exonic ENSG00000198216.12 . synonymous SNV ENSG00000198216.12:ENST00000367573.7:exon31:c.G4335A:p.A1445A 1q25.3 C3N-03439 7.489e-05 0 0.0004 0.0001 0 4.509e-05 0 0 rs779279181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1E 148 0 215 30 0.122448979591837 TRUE NA ENSG00000163395.17 . BCM GRCh38.p13 chr1 201217363 201217363 + T T A Silent SNP ENST00000295591.12 exon18 c.T2301A p.P767P exonic ENSG00000163395.17 . synonymous SNV ENSG00000163395.17:ENST00000295591.12:exon18:c.T2301A:p.P767P 1q32.1 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFN1 291 1 438 39 0.0817610062893082 TRUE TRUE ENSG00000162951.11 . BCM GRCh38.p13 chr2 80303205 80303205 + G G A Silent SNP ENST00000295057.4 exon2 c.C615T p.F205F exonic ENSG00000162951.11 . synonymous SNV ENSG00000162951.11:ENST00000295057.4:exon2:c.C615T:p.F205F 2p12 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54437951;OCCURENCE=1(oesophagus) LRRTM1 238 0 393 24 0.0575539568345324 TRUE TRUE ENSG00000164344.16 . BCM GRCh38.p13 chr4 186254726 186254726 + C C T Silent SNP ENST00000264690.11 exon12 c.C1452T p.I484I exonic ENSG00000164344.16 . synonymous SNV ENSG00000164344.16:ENST00000264690.11:exon12:c.C1452T:p.I484I 4q35.2 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52994761;OCCURENCE=1(skin) KLKB1 169 1 279 33 0.105769230769231 TRUE TRUE ENSG00000204963.6 . BCM GRCh38.p13 chr5 140836054 140836054 + C C T Silent SNP ENST00000525929.2 exon1 c.C1671T p.D557D exonic ENSG00000204963.6 . synonymous SNV ENSG00000204963.6:ENST00000525929.2:exon1:c.C1671T:p.D557D 5q31.3 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65343247;OCCURENCE=1(liver),2(large_intestine),1(stomach) PCDHA7 526 0 596 121 0.168758716875872 NA TRUE ENSG00000158553.4 . BCM GRCh38.p13 chr6 27312042 27312042 + G G A Silent SNP ENST00000444565.1 exon1 c.C129T p.F43F exonic ENSG00000158553.4 . synonymous SNV ENSG00000158553.4:ENST00000444565.1:exon1:c.C129T:p.F43F 6p22.1 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POM121L2 42 0 53 5 0.0862068965517241 TRUE TRUE ENSG00000130711.4 . BCM GRCh38.p13 chr9 130668250 130668250 + C C T Silent SNP ENST00000253008.3 exon3 c.C507T p.N169N exonic ENSG00000130711.4 . synonymous SNV ENSG00000130711.4:ENST00000253008.3:exon3:c.C507T:p.N169N 9q34.12 C3N-03439 8.262e-05 9.643e-05 0 0 0 1.505e-05 0 0.0005 rs369430134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53391936;OCCURENCE=1(oesophagus),1(haematopoietic_and_lymphoid_tissue),1(endometrium) PRDM12 268 0 335 34 0.0921409214092141 TRUE TRUE ENSG00000015171.19 . BCM GRCh38.p13 chr10 246841 246841 + T T C Silent SNP ENST00000381591.5 exon11 c.T1026C p.G342G exonic ENSG00000015171.19 . synonymous SNV ENSG00000015171.19:ENST00000381591.5:exon11:c.T1026C:p.G342G 10p15.3 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZMYND11 470 0 725 87 0.107142857142857 NA TRUE ENSG00000006071.15 . BCM GRCh38.p13 chr11 17461670 17461670 + G G A Silent SNP ENST00000389817.8 exon5 c.C735T p.I245I exonic ENSG00000006071.15 . synonymous SNV ENSG00000006071.15:ENST00000389817.8:exon5:c.C735T:p.I245I 11p15.1 C3N-03439 0.0002 0 0 0 0 2.997e-05 0 0.0013 rs535141079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56857654;OCCURENCE=1(NS),2(skin) ABCC8 504 0 750 60 0.0740740740740741 TRUE TRUE ENSG00000184613.10 . BCM GRCh38.p13 chr12 44523309 44523309 + G G A Silent SNP ENST00000429094.6 exon17 c.C1980T p.C660C exonic ENSG00000184613.10 . synonymous SNV ENSG00000184613.10:ENST00000429094.6:exon17:c.C1980T:p.C660C 12q12 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NELL2 233 0 361 39 0.0975 TRUE TRUE ENSG00000211827.1 . BCM GRCh38.p13 chr14 22456709 22456709 + T T C Unknown SNP NA NA NA NA exonic ENSG00000211827.1 . unknown UNKNOWN 14q11.2 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRDJ2 321 0 346 40 0.103626943005181 TRUE NA ENSG00000103365.15 . BCM GRCh38.p13 chr16 23486039 23486039 + G G T Silent SNP ENST00000309859.8 exon8 c.C774A p.A258A exonic ENSG00000103365.15 . synonymous SNV ENSG00000103365.15:ENST00000309859.8:exon8:c.C774A:p.A258A 16p12.2 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GGA2 193 0 310 37 0.106628242074928 TRUE TRUE ENSG00000005381.8 . BCM GRCh38.p13 chr17 58271858 58271858 + C C T Silent SNP ENST00000225275.4 exon11 c.G1827A p.P609P exonic ENSG00000005381.8 . synonymous SNV ENSG00000005381.8:ENST00000225275.4:exon11:c.G1827A:p.P609P 17q22 C3N-03439 2.477e-05 0 0 0 0 4.512e-05 0 0 rs781536912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51859729;OCCURENCE=2(large_intestine),1(endometrium) MPO 236 1 336 37 0.0991957104557641 TRUE TRUE ENSG00000183036.11 . BCM GRCh38.p13 chr21 39929051 39929051 + G G A Silent SNP ENST00000328619.10 exon3 c.G129A p.A43A exonic ENSG00000183036.11 . synonymous SNV ENSG00000183036.11:ENST00000328619.10:exon3:c.G129A:p.A43A 21q22.2 C3N-03439 8.239e-06 0 0 0 0 1.499e-05 0 0 rs769109934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60786391;OCCURENCE=2(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(pancreas) PCP4 126 0 157 11 0.0654761904761905 TRUE TRUE ENSG00000100359.21 . BCM GRCh38.p13 chr22 40406142 40406142 + G G C Silent SNP ENST00000248929.14 exon9 c.G879C p.L293L exonic ENSG00000100359.21 . synonymous SNV ENSG00000100359.21:ENST00000248929.14:exon9:c.G879C:p.L293L 22q13.1 C3N-03439 . . . . . . . . rs917899331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SGSM3 219 0 297 25 0.077639751552795 TRUE NA ENSG00000143924.19 . BCM GRCh38.p13 chr2 42333828 42333828 + C C A IGR SNP NA NA NA NA intergenic ENSG00000143924.19;ENSG00000115944.15 dist=1280;dist=15510 . . 2p21 C3N-03439 . . . . . . . . . 0.11 T T . . . . . . N . T T . 0.030 0.233 0.088 . . . T T T T 0.139 2.468 0.579 N N -0.566 1.050 -0.772 0.797 0.991 0.372 0.380 0.487 0.492 . 2.090 1.210 0.706 0.721 0.469 0.002 0.007 0.010 917 . . . . EML4 89 0 167 14 0.0773480662983425 TRUE TRUE ENSG00000184220.12 . BCM GRCh38.p13 chr3 99830603 99830603 + G G A Intron SNP NA NA NA NA intronic ENSG00000184220.12 . . . 3q12.1 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CMSS1 117 0 162 16 0.0898876404494382 TRUE NA ENSG00000174963.17 . BCM GRCh38.p13 chr3 147405408 147405408 + C C T Intron SNP NA NA NA NA intronic ENSG00000174963.17 . . . 3q24 C3N-03439 . . . . . . . . . 2.13 D D . . . . . T N 0.091 T T T 0.065 0.352 0.156 . . . T T T T -0.261 0.377 0.937 N N -0.803 0.650 -0.982 0.512 0.998 0.447 0.563 0.504 0.530 . 3.890 -2.090 -1.664 0.074 0.599 0.000 0.000 0.001 945 . . . . ZIC4 169 0 225 19 0.0778688524590164 TRUE NA ENSG00000255622.3 . BCM GRCh38.p13 chr5 141156188 141156188 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255622.3 . . . 5q31.3 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHB17P 174 0 236 27 0.102661596958175 TRUE NA ENSG00000136270.14 . BCM GRCh38.p13 chr7 45111658 45111658 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000136270.14 ENST00000258770.8:c.-2421C>T . . 7p13 C3N-03439 . . . . . . . . rs1013396252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99345789;OCCURENCE=1(stomach) TBRG4 157 0 287 29 0.0917721518987342 TRUE NA ENSG00000132549.18 . BCM GRCh38.p13 chr8 99121462 99121462 + G G A Intron SNP NA NA NA NA intronic ENSG00000132549.18 . . . 8q22.2 C3N-03439 . . . . . . . . . 3.16 D T B B . N . D N 0.162 T T D 0.131 0.582 0.372 . . . T T T T 0.168 2.765 0.667 N N -1.099 0.308 -1.120 0.356 0.000 0.372 0.546 0.547 0.492 . 4.290 -1.010 0.235 -0.773 -0.128 0.000 0.026 0.320 819 . . . . VPS13B 93 0 134 15 0.100671140939597 TRUE NA ENSG00000122882.11 . BCM GRCh38.p13 chr10 73141448 73141448 + C C T Intron SNP NA NA NA NA intronic ENSG00000122882.11 . . . 10q22.2 C3N-03439 . . . . . . . . . 1.14 T D . . . N . T N 0.058 T T T 0.024 0.384 0.173 0.077 . . T T T T -0.135 0.703 0.785 N N -1.288 0.171 -1.386 0.159 0.000 0.000 0.637 0.514 0.714 . 0.109 0.109 -0.682 -1.623 -1.783 0.002 0.001 0.001 902 . . . . ECD 31 0 41 4 0.0888888888888889 TRUE TRUE ENSG00000166575.17 . BCM GRCh38.p13 chr11 87328513 87328513 + G G T 3'UTR SNP NA NA NA NA UTR3 ENSG00000166575.17 ENST00000305494.6:c.*7180G>T . . 11q14.2 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM135 233 0 377 33 0.0804878048780488 TRUE NA ENSG00000255093.2 . BCM GRCh38.p13 chr11 111453580 111453580 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255093.2 . . . 11q23.1 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP002008.2 73 0 102 13 0.11304347826087 TRUE NA ENSG00000256269.10 . BCM GRCh38.p13 chr11 119088753 119088753 + C C T Intron SNP NA NA NA NA intronic ENSG00000256269.10 . . . 11q23.3 C3N-03439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMBS 415 0 613 48 0.0726172465960666 TRUE NA ENSG00000170325.14 . BCM GRCh38.p13 chr11 129914629 129914629 + G G A Intron SNP NA NA NA NA intronic ENSG00000170325.14 . . . 11q24.3 C3N-03439 1.024e-05 0.0001 0 0 0 0 0 0 rs760426995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM10 324 0 438 32 0.0680851063829787 TRUE NA ENSG00000258380.1 . BCM GRCh38.p13 chr14 89401610 89401610 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000258380.1 . . . 14q32.11 C3N-03439 . . . . . . . . . 0.12 T T . . . N . . N . T T . 0.025 0.206 0.043 . . . T T T T -0.754 0.033 0.659 N N -1.218 0.214 -1.427 0.138 1.000 0.372 0.546 0.634 0.714 . 3.390 -3.740 -1.782 -2.061 -5.304 0.000 0.000 0.000 768 . . . . AL356805.1 220 0 368 40 0.0980392156862745 TRUE TRUE ENSG00000259495.3 . BCM GRCh38.p13 chr15 80380137 80380137 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000259495.3 . . . 15q25.1 C3N-03439 0.0008 0 0 0 . 0 0 0.0012 rs755386647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC016705.2 162 0 302 24 0.0736196319018405 TRUE NA ENSG00000174403.16 . BCM GRCh38.p13 chr20 62546573 62546573 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000174403.16 . . . 20q13.33 C3N-03439 0.0002 0 0 0.0017 0 0 0 0.0006 rs576312365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR1-1HG-AS1 226 0 317 34 0.0968660968660969 TRUE NA ENSG00000134243.12 . BCM GRCh38.p13 chr1 109345867 109345867 + C C T Missense_Mutation SNP ENST00000256637.8 exon8 c.G847A p.A283T exonic ENSG00000134243.12 . nonsynonymous SNV ENSG00000134243.12:ENST00000256637.8:exon8:c.G847A:p.A283T 1p13.3 C3N-03006 . . . . . . . . . 1.20 T T B B N N N T N 0.105 T T T 0.055 0.447 0.123 0.239 T T T T T T 1.685 16.930 0.981 D N -0.540 1.099 -0.283 1.599 0.993 0.732 0.588 0.744 0.580 . 5.820 4.900 1.391 0.124 0.549 0.807 0.992 0.998 649 Sortilin,_N-terminal;VPS10 . . . SORT1 112 0 159 9 0.0535714285714286 NA TRUE ENSG00000271425.9 . BCM GRCh38.p13 chr1 146069543 146069543 + C C G Missense_Mutation SNP ENST00000583866.9 exon86 c.G10810C p.E3604Q exonic ENSG00000271425.9 . nonsynonymous SNV ENSG00000271425.9:ENST00000583866.9:exon86:c.G10810C:p.E3604Q 1q21.1 C3N-03006 . . . . . . . . . 2.3 . D . . . . . . . 0.072 . . . . . . . . . . . . D 0.903 10.460 . . N . . . . . . . . . . . . -2.685 -2.422 -2.799 0.000 0.000 0.000 958 Neuroblastoma_breakpoint_family_(NBPF)_domain . . . NBPF10 135 0 233 17 0.068 NA TRUE ENSG00000152092.16 . BCM GRCh38.p13 chr1 176894765 176894765 + A A C Missense_Mutation SNP ENST00000361833.7 exon17 c.T2737G p.Y913D exonic ENSG00000152092.16 . nonsynonymous SNV ENSG00000152092.16:ENST00000361833.7:exon17:c.T2737G:p.Y913D 1q25.2 C3N-03006 . . . . . . . . . 15.19 D D D D D D . T D 0.874 T T D 0.517 0.325 0.446 0.764 D T D D D D 3.619 25.100 0.990 D D 0.653 6.515 0.616 6.434 1.000 0.615 0.590 0.659 0.564 . 5.260 5.260 8.557 1.312 0.754 1.000 0.958 0.318 686 Membrane_attack_complex_component/perforin_(MACPF)_domain . . . ASTN1 408 0 493 32 0.060952380952381 TRUE TRUE ENSG00000240382.3 . BCM GRCh38.p13 chr2 89117427 89117427 + G G A Missense_Mutation SNP ENST00000490686.1 exon2 c.C266T p.S89F exonic ENSG00000240382.3 . nonsynonymous SNV ENSG00000240382.3:ENST00000490686.1:exon2:c.C266T:p.S89F 2p11.2 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV1-17 391 1 520 48 0.0845070422535211 NA TRUE ENSG00000135973.3 . BCM GRCh38.p13 chr2 105242150 105242150 + G G A Missense_Mutation SNP ENST00000258456.3 exon1 c.G292A p.V98M exonic ENSG00000135973.3 . nonsynonymous SNV ENSG00000135973.3:ENST00000258456.3:exon1:c.G292A:p.V98M 2q12.1 C3N-03006 . . . . . . . . . 3.20 T T D P N N L T N 0.261 T T T 0.123 0.404 0.252 1.456 T T T T D D 2.632 22.700 0.998 N N 0.030 2.620 -0.049 2.198 0.998 0.516 0.610 0.573 0.542 . 5.440 4.550 2.448 1.101 0.590 0.225 0.921 0.957 957 GPCR,_rhodopsin-like,_7TM . . ID=COSV99307239;OCCURENCE=1(lung) GPR45 534 0 591 66 0.100456621004566 TRUE NA ENSG00000176771.17 . BCM GRCh38.p13 chr2 132781957 132781957 + C C T Missense_Mutation SNP ENST00000409261.6 exon14 c.G4854A p.M1618I exonic ENSG00000176771.17 . nonsynonymous SNV ENSG00000176771.17:ENST00000409261.6:exon14:c.G4854A:p.M1618I 2q21.2 C3N-03006 . . . . . . . . . 7.20 D T P B U D M T N 0.643 T T T 0.127 0.328 0.134 0.059 T T T T D D 2.927 23.300 0.987 D D 0.127 2.994 0.230 3.333 0.124 0.554 0.588 0.618 0.564 . 5.140 5.140 4.216 1.026 0.547 1.000 0.993 0.863 976 Nck-associated_protein_5,_C-terminal . . . NCKAP5 69 0 114 7 0.0578512396694215 TRUE TRUE ENSG00000128709.13 . BCM GRCh38.p13 chr2 176123430 176123430 + C C T Missense_Mutation SNP ENST00000249499.8 exon1 c.C662T p.T221M exonic ENSG00000128709.13 . nonsynonymous SNV ENSG00000128709.13:ENST00000249499.8:exon1:c.C662T:p.T221M 2q31.1 C3N-03006 . . . . . . . . . 3.20 T T P B N N N D N 0.202 T T D 0.233 0.306 0.905 0.729 T T T T T T 1.876 18.300 0.952 D N -0.423 1.334 -0.372 1.424 1.000 0.652 0.590 0.616 0.710 . 3.880 2.910 1.802 0.035 0.524 0.843 0.013 0.077 711 . . . ID=COSV50890714;OCCURENCE=1(large_intestine) HOXD9 96 0 159 13 0.0755813953488372 TRUE TRUE ENSG00000163694.15 . BCM GRCh38.p13 chr4 40437971 40437971 + C C T Missense_Mutation SNP ENST00000295971.12 exon4 c.G923A p.G308D exonic ENSG00000163694.15 . nonsynonymous SNV ENSG00000163694.15:ENST00000295971.12:exon4:c.G923A:p.G308D 4p14 C3N-03006 . . . . . . . . . 18.20 D D D D D D L D D 0.847 D D D 0.824 0.719 0.448 2.584 D T D D D D 3.771 25.700 0.997 D D 0.732 7.597 0.736 8.490 1.000 0.646 0.702 0.696 0.542 . 5.580 5.580 7.512 0.962 0.524 1.000 1.000 0.992 803 Putative_RNA-binding_protein_47,_RNA_recognition_motif_3;RNA_recognition_motif_domain . . . RBM47 241 0 262 16 0.0575539568345324 TRUE TRUE ENSG00000138688.15 . BCM GRCh38.p13 chr4 122239632 122239632 + G G A Missense_Mutation SNP ENST00000264501.8 exon29 c.G3950A p.R1317H exonic ENSG00000138688.15 . nonsynonymous SNV ENSG00000138688.15:ENST00000264501.8:exon29:c.G3950A:p.R1317H 4q27 C3N-03006 1.656e-05 0.0001 0 0 0 1.499e-05 0 0 rs372137155 9.20 D D D D U D L T N 0.435 T T T 0.325 0.267 0.628 0.153 D T T T T D 3.664 25.300 0.999 D D 0.755 7.955 0.813 10.525 1.000 0.707 0.709 0.651 0.714 . 5.980 5.980 9.519 1.176 0.676 1.000 0.919 0.861 842 . . . ID=COSV52662055;OCCURENCE=2(endometrium) KIAA1109 108 0 102 7 0.0642201834862385 TRUE TRUE ENSG00000112769.20 . BCM GRCh38.p13 chr6 112187500 112187500 + C C T Missense_Mutation SNP ENST00000230538.12 exon8 c.G916A p.A306T exonic ENSG00000112769.20 . nonsynonymous SNV ENSG00000112769.20:ENST00000230538.12:exon8:c.G916A:p.A306T 6q21 C3N-03006 1.648e-05 0 0 0 0 0 0 0.0001 rs782180044 5.17 T D . . D D . T N 0.445 T T T 0.220 0.714 0.353 0.170 T T T T T T 1.917 18.620 0.997 D D 0.326 3.917 0.375 4.187 1.000 0.672 0.590 0.602 0.711 . 5.760 5.760 4.531 1.026 0.599 0.999 0.004 0.018 741 Laminin_alpha,_domain_I . . . LAMA4 585 3 713 41 0.0543766578249337 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971187 21971187 + G G A Nonsense_Mutation SNP ENST00000304494.9 exon2 c.C172T p.R58X exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon2:c.C172T:p.R58X 9p21.3 C3N-03006 . . . . . . . . rs121913387 4.15 D T . . N D . T D 0.185 T T . 0.220 . 0.879 . . T T T D T 5.550 34 0.997 N N -0.315 1.578 -0.449 1.286 1.000 0.677 0.383 0.608 0.601 . 5.790 2.710 -0.135 1.176 0.676 0.000 0.031 0.057 900 . . . ID=COSV58682666;OCCURENCE=1(salivary_gland),3(breast),9(penis),1(peritoneum),5(liver),18(oesophagus),1(cervix),8(vulva),6(ovary),17(NS),4(haematopoietic_and_lymphoid_tissue),4(stomach),4(urinary_tract),2(soft_tissue),18(pancreas),41(skin),18(lung),42(upper_aerodigestive_tract),1(thymus),1(endometrium) CDKN2A 529 0 536 70 0.115511551155116 NA TRUE ENSG00000148291.10 . BCM GRCh38.p13 chr9 133360045 133360045 + C C T Missense_Mutation SNP ENST00000371964.5 exon4 c.C433T p.R145C exonic ENSG00000148291.10 . nonsynonymous SNV ENSG00000148291.10:ENST00000371964.5:exon4:c.C433T:p.R145C 9q34.2 C3N-03006 . . . . . . . . . 0.15 T T . . N N . T N 0.211 T T T 0.041 0.445 0.146 0.081 T . T T T . 1.009 11.740 0.976 N N -1.434 0.104 -1.480 0.115 1.000 0.672 0.698 0.644 0.711 . 5.280 -0.581 -0.191 -0.799 -0.165 0.000 0.000 0.000 908 . . . ID=COSV64332277;OCCURENCE=1(cervix),1(stomach),2(urinary_tract),3(lung),1(upper_aerodigestive_tract) SURF2 85 0 94 8 0.0784313725490196 TRUE TRUE ENSG00000047056.16 . BCM GRCh38.p13 chr10 1124959 1124959 + C C T Nonsense_Mutation SNP ENST00000263150.9 exon13 c.C1288T p.R430X exonic ENSG00000047056.16 . stopgain ENSG00000047056.16:ENST00000263150.9:exon13:c.C1288T:p.R430X 10p15.3 C3N-03006 8.244e-06 0 0 0 0 1.5e-05 0 0 rs554547796 5.6 . . . . D A . . . 0.349 . . . . . . . . . D D . . 8.261 42 0.998 D N 0.711 7.270 0.571 5.878 1.000 0.706 0.654 0.710 0.714 . 5.410 4.480 3.653 0.980 0.549 1.000 0.999 0.992 676 WD40-repeat-containing_domain . . . WDR37 206 0 202 32 0.136752136752137 TRUE NA ENSG00000183621.15 . BCM GRCh38.p13 chr10 30848925 30848925 + C C T Missense_Mutation SNP ENST00000442986.5 exon7 c.G1480A p.V494M exonic ENSG00000183621.15 . nonsynonymous SNV ENSG00000183621.15:ENST00000442986.5:exon7:c.G1480A:p.V494M 10p11.23 C3N-03006 0.0002 0 0 0 0 0.0003 0 6.056e-05 rs145592963 2.20 T D D P N N L T N 0.120 T T T 0.131 . 0.178 0.091 T T T T T T 0.702 8.475 0.960 N N -0.782 0.682 -0.758 0.817 0.234 0.615 0.634 0.602 0.636 . 5.590 4.690 0.367 -0.713 -0.827 0.000 0.004 0.948 964 . . . ID=COSV59197771;OCCURENCE=2(large_intestine) ZNF438 237 0 296 43 0.126843657817109 TRUE TRUE ENSG00000198298.13 . BCM GRCh38.p13 chr10 43617020 43617020 + A A G Missense_Mutation SNP ENST00000361807.8 exon5 c.A977G p.Y326C exonic ENSG00000198298.13 . nonsynonymous SNV ENSG00000198298.13:ENST00000361807.8:exon5:c.A977G:p.Y326C 10q11.21 C3N-03006 . . . . . . . . . 7.19 D D D D . N M T D 0.142 T T T 0.070 0.537 0.511 0.640 T T T T D T 2.942 23.300 0.930 N N -0.085 2.224 -0.353 1.460 0.015 0.615 0.634 0.659 0.568 . 2.190 1.030 -0.568 0.911 0.561 0.000 0.998 0.395 529 Zinc_finger_C2H2-type . . . ZNF485 203 0 314 41 0.115492957746479 TRUE NA ENSG00000167792.13 . BCM GRCh38.p13 chr11 67611207 67611207 + G G C Missense_Mutation SNP ENST00000322776.11 exon6 c.G913C p.G305R exonic ENSG00000167792.13 . nonsynonymous SNV ENSG00000167792.13:ENST00000322776.11:exon6:c.G913C:p.G305R 11q13.2 C3N-03006 . . . . . . . . . 19.20 D D D D D D H T D 0.955 D D D 0.882 0.823 0.952 0.911 D D D D D D 5.547 34 0.999 D D 0.980 13.291 0.885 13.121 1.000 0.732 0.698 0.744 0.714 . 5.080 5.080 9.608 1.176 0.618 1.000 1.000 0.973 774 Soluble_ligand_binding_domain . . . NDUFV1 185 0 203 17 0.0772727272727273 TRUE TRUE ENSG00000175581.14 . BCM GRCh38.p13 chr11 73859914 73859914 + A A G Missense_Mutation SNP ENST00000310614.12 exon6 c.A379G p.M127V exonic ENSG00000175581.14 . nonsynonymous SNV ENSG00000175581.14:ENST00000310614.12:exon6:c.A379G:p.M127V 11q13.4 C3N-03006 . . . . . . . . . 5.20 D T B B D D M T N 0.378 T T T 0.037 0.586 0.311 0.254 T T T T T D 1.425 15.250 0.721 N N -0.578 1.028 -0.524 1.164 0.967 0.732 0.744 0.644 0.728 . 5.650 1.760 0.750 1.312 0.756 0.308 0.968 0.820 220 Ribosomal_protein_S10_domain . . . MRPL48 131 0 126 12 0.0869565217391304 TRUE TRUE ENSG00000110172.12 . BCM GRCh38.p13 chr11 90203424 90203424 + T T C Missense_Mutation SNP ENST00000320585.11 exon9 c.A673G p.K225E exonic ENSG00000110172.12 . nonsynonymous SNV ENSG00000110172.12:ENST00000320585.11:exon9:c.A673G:p.K225E 11q14.3 C3N-03006 2.48e-05 0 0 0 0 4.51e-05 0 0 rs754005973 3.19 D T B B N D N T N 0.289 T T T 0.045 0.442 0.244 0.179 T T T T T . 2.346 21.800 0.990 D N -0.406 1.371 -0.205 1.775 0.778 0.651 0.654 0.609 0.684 . 6.070 3.570 4.202 0.192 0.660 1.000 0.995 0.985 916 . . . ID=COSV57706216;OCCURENCE=1(endometrium) CHORDC1 25 0 41 6 0.127659574468085 TRUE TRUE ENSG00000171014.2 . BCM GRCh38.p13 chr11 123940385 123940385 + G G A Missense_Mutation SNP ENST00000307033.2 exon1 c.G769A p.V257I exonic ENSG00000171014.2 . nonsynonymous SNV ENSG00000171014.2:ENST00000307033.2:exon1:c.G769A:p.V257I 11q24.1 C3N-03006 6.592e-05 0 8.637e-05 0 0 0.0001 0 0 rs776996786 0.20 T T B B N N N T N 0.046 T T T 0.041 0.280 0.124 0.015 T T T T T T 0.338 4.732 0.818 N N -1.024 0.380 -0.812 0.741 0.000 0.487 0.574 0.574 0.564 . 4.960 2.630 0.634 0.286 -0.078 0.000 0.951 0.954 883 GPCR,_rhodopsin-like,_7TM . . ID=COSV58309069;OCCURENCE=1(prostate) OR4D5 210 0 212 14 0.0619469026548673 TRUE TRUE ENSG00000171681.12 . BCM GRCh38.p13 chr12 14423982 14423982 + C C - Frame_Shift_Del NA ENST00000261168.8 exon2 c.67delC p.R23Vfs*15 exonic ENSG00000171681.12 . frameshift deletion ENSG00000171681.12:ENST00000261168.8:exon2:c.67delC:p.R23Vfs*15 12p13.1 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATF7IP 106 0 134 11 0.0758620689655172 NA TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-03006 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 229 0 292 28 0.0875 TRUE TRUE ENSG00000139292.13 . BCM GRCh38.p13 chr12 71584163 71584163 + G G A Missense_Mutation SNP ENST00000266674.10 exon18 c.G2153A p.G718E exonic ENSG00000139292.13 . nonsynonymous SNV ENSG00000139292.13:ENST00000266674.10:exon18:c.G2153A:p.G718E 12q21.1 C3N-03006 . . . . . . . . . 10.19 D D D D N D M T D 0.601 T T T 0.244 0.458 0.844 0.247 T T T T D D 3.710 25.400 0.998 D . 0.627 6.215 0.599 6.217 1.000 0.549 0.627 0.547 0.542 . 5.850 4.960 6.154 1.176 0.676 1.000 0.626 0.967 881 GPCR,_rhodopsin-like,_7TM . . . LGR5 217 0 319 17 0.0505952380952381 TRUE TRUE ENSG00000136003.15 . BCM GRCh38.p13 chr12 108568851 108568851 + A A - Frame_Shift_Del NA ENST00000311893.13 exon5 c.439delA p.K147Rfs*9 exonic ENSG00000136003.15 . frameshift deletion ENSG00000136003.15:ENST00000311893.13:exon5:c.439delA:p.K147Rfs*9 12q23.3 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ISCU 351 0 476 27 0.0536779324055666 NA TRUE ENSG00000089154.11 . BCM GRCh38.p13 chr12 120140880 120140880 + C C A Missense_Mutation SNP ENST00000300648.7 exon45 c.G5973T p.M1991I exonic ENSG00000089154.11 . nonsynonymous SNV ENSG00000089154.11:ENST00000300648.7:exon45:c.G5973T:p.M1991I 12q24.23 C3N-03006 . . . . . . . . . 9.15 T T . . D D . T N 0.913 T T D 0.302 0.430 0.898 0.754 D . D D D . 3.369 24.300 0.990 D D -0.098 2.182 0.116 2.802 1.000 0.707 0.702 0.702 0.714 . 5.010 5.010 7.266 1.026 0.599 1.000 1.000 0.998 409 . . . . GCN1 109 0 127 8 0.0592592592592593 TRUE TRUE ENSG00000102539.5 . BCM GRCh38.p13 chr13 49222354 49222354 + G G A Missense_Mutation SNP ENST00000218721.1 exon2 c.G1216A p.A406T exonic ENSG00000102539.5 . nonsynonymous SNV ENSG00000102539.5:ENST00000218721.1:exon2:c.G1216A:p.A406T 13q14.2 C3N-03006 1.862e-05 0 0 0 0 3.324e-05 0 0 rs200236330 0.20 T T B B N N L T N 0.062 T T T 0.064 . 0.357 . T T T T T T -0.155 0.637 0.908 N N -1.488 0.085 -1.568 0.084 1.000 0.598 0.590 0.596 0.530 . 5.210 -6.040 -1.538 -0.704 -0.113 0.000 0.000 0.001 665 . . . ID=COSV99519844;OCCURENCE=1(endometrium) MLNR 171 1 193 11 0.053921568627451 TRUE NA ENSG00000182950.3 . BCM GRCh38.p13 chr15 75726093 75726093 + C C T Missense_Mutation SNP ENST00000332145.3 exon3 c.C265T p.L89F exonic ENSG00000182950.3 . nonsynonymous SNV ENSG00000182950.3:ENST00000332145.3:exon3:c.C265T:p.L89F 15q24.2 C3N-03006 . . . . . . . . . 0.20 T T B B N N N T N 0.166 T T T 0.039 0.488 0.014 0.252 T T T T T T 0.032 1.551 0.762 N N -1.569 0.062 -1.480 0.116 0.997 0.549 0.588 0.479 0.616 . 5.180 0.132 0.384 -0.634 -1.601 0.006 0.808 0.366 166 . . . . ODF3L1 173 0 199 13 0.0613207547169811 TRUE TRUE ENSG00000174938.14 . BCM GRCh38.p13 chr16 29873661 29873661 + C C A Missense_Mutation SNP ENST00000308713.9 exon13 c.G2173T p.V725F exonic ENSG00000174938.14 . nonsynonymous SNV ENSG00000174938.14:ENST00000308713.9:exon13:c.G2173T:p.V725F 16p11.2 C3N-03006 . . . . . . . . . 10.20 D D D P N D L T D 0.732 T T D 0.366 0.712 0.682 1.230 T T T T D D 3.168 23.800 0.996 D D 0.328 3.928 0.331 3.903 0.928 0.696 0.610 0.723 0.586 . 4.670 3.600 1.929 1.026 0.599 0.941 0.915 0.586 245 Sushi/SCR/CCP_domain . . ID=COSV100435497;OCCURENCE=1(lung) SEZ6L2 237 0 294 20 0.0636942675159236 TRUE TRUE ENSG00000197162.10 . BCM GRCh38.p13 chr16 30585560 30585560 + G G A Missense_Mutation SNP ENST00000395216.3 exon1 c.C52T p.P18S exonic ENSG00000197162.10 . nonsynonymous SNV ENSG00000197162.10:ENST00000395216.3:exon1:c.C52T:p.P18S 16p11.2 C3N-03006 . . . . . . . . . 0.19 T T B B . N N T N 0.058 T T T 0.012 0.193 0.040 0.457 T T T T T T 0.147 2.545 0.824 N N -1.267 0.183 -1.310 0.203 1.000 0.267 0.219 0.520 0.250 . 2.820 -1.350 0.093 -1.305 -0.323 0.003 0.000 0.000 175 . . . . ZNF785 150 1 188 14 0.0693069306930693 TRUE NA ENSG00000125107.18 . BCM GRCh38.p13 chr16 58537929 58537929 + C C T Missense_Mutation SNP ENST00000317147.10 exon38 c.G5376A p.M1792I exonic ENSG00000125107.18 . nonsynonymous SNV ENSG00000125107.18:ENST00000317147.10:exon38:c.G5376A:p.M1792I 16q21 C3N-03006 . . . . . . . . . 6.20 T T B B N D N T N 0.605 T T T 0.157 0.495 0.238 1.273 D T T T D D 2.330 21.700 0.971 D D -0.034 2.394 0.168 3.030 1.000 0.707 0.725 0.702 0.714 . 5.650 4.690 7.905 1.026 0.599 1.000 1.000 0.995 693 . . . . CNOT1 165 0 206 12 0.055045871559633 TRUE TRUE ENSG00000159842.15 . BCM GRCh38.p13 chr17 1125298 1125298 + G G A Missense_Mutation SNP ENST00000302538.9 exon2 c.C131T p.S44L exonic ENSG00000159842.15 . nonsynonymous SNV ENSG00000159842.15:ENST00000302538.9:exon2:c.C131T:p.S44L 17p13.3 C3N-03006 . . . . . . . . . 6.20 T T P B D D L T N 0.826 T T T 0.201 0.352 0.787 2.089 T T T T D D 3.658 25.200 0.999 D D 0.265 3.606 0.393 4.308 1.000 0.706 0.644 0.723 0.613 . 5.360 5.360 8.620 1.158 0.656 1.000 0.990 0.991 933 . . . . ABR 173 0 201 12 0.0563380281690141 TRUE TRUE ENSG00000033627.16 . BCM GRCh38.p13 chr17 42494444 42494444 + C C G Missense_Mutation SNP ENST00000343619.8 exon12 c.C1285G p.R429G exonic ENSG00000033627.16 . nonsynonymous SNV ENSG00000033627.16:ENST00000343619.8:exon12:c.C1285G:p.R429G 17q21.2 C3N-03006 . . . . . . . . . 16.20 T T D D D D M D N 0.671 D D D 0.537 0.551 0.397 2.209 T D D D D D 2.710 22.800 0.991 D D 0.215 3.369 0.344 3.984 0.993 0.732 0.725 0.725 0.728 . 5.610 5.610 3.327 1.026 0.599 1.000 1.000 0.995 163 . . . . ATP6V0A1 170 0 189 12 0.0597014925373134 TRUE TRUE ENSG00000187867.10 . BCM GRCh38.p13 chr19 14057431 14057431 + C C G Missense_Mutation SNP ENST00000340790.9 exon2 c.G46C p.E16Q exonic ENSG00000187867.10 . nonsynonymous SNV ENSG00000187867.10:ENST00000340790.9:exon2:c.G46C:p.E16Q 19p13.12 C3N-03006 . . . . . . . . . 10.19 D D D D . N M T N 0.455 T T D 0.143 0.230 0.170 . D T T T D D 5.389 34 0.993 D N 0.348 4.040 0.275 3.577 1.000 0.726 0.596 0.594 0.568 . 3.930 2.860 2.083 0.770 0.494 1.000 1.000 0.828 824 . . . . PALM3 77 0 88 5 0.0537634408602151 TRUE TRUE ENSG00000187135.7 . BCM GRCh38.p13 chr19 29530089 29530089 + C C T Missense_Mutation SNP ENST00000335523.7 exon4 c.C568T p.R190C exonic ENSG00000187135.7 . nonsynonymous SNV ENSG00000187135.7:ENST00000335523.7:exon4:c.C568T:p.R190C 19q12 C3N-03006 . . . . . . . . . 7.20 D D D B N N M T D 0.235 T T D 0.268 0.356 0.318 . D T T T T T 2.869 23.200 0.997 N N -0.348 1.501 -0.468 1.254 0.994 0.598 0.596 0.504 0.639 . 3.710 3.710 0.582 0.928 0.456 0.057 0.010 0.033 968 . . . . VSTM2B 419 0 641 60 0.0855920114122682 TRUE NA ENSG00000275395.6 . BCM GRCh38.p13 chr19 39886381 39886381 + C C T Missense_Mutation SNP ENST00000616721.6 exon16 c.G7798A p.D2600N exonic ENSG00000275395.6 . nonsynonymous SNV ENSG00000275395.6:ENST00000616721.6:exon16:c.G7798A:p.D2600N 19q13.2 C3N-03006 . . . . . . . . . 4.13 . D . . . N . . . . T T T 0.125 . 0.659 . T T T T D T 2.486 22.400 0.998 D D -0.166 1.975 -0.156 1.894 0.080 0.554 0.588 0.602 0.621 . 3.710 2.660 1.997 -0.286 0.308 0.907 0.986 0.616 707 von_Willebrand_factor,_type_D_domain . . . FCGBP 1220 0 2737 228 0.0768971332209106 NA TRUE ENSG00000126464.14 . BCM GRCh38.p13 chr19 49595423 49595423 + C C T Missense_Mutation SNP ENST00000418929.7 exon4 c.C1088T p.T363M exonic ENSG00000126464.14 . nonsynonymous SNV ENSG00000126464.14:ENST00000418929.7:exon4:c.C1088T:p.T363M 19q13.33 C3N-03006 9.285e-05 0 0 0 0 0.0003 0 0 rs759637531 3.16 D T B B . N . . N 0.127 T T D 0.178 . 0.068 0.454 D . T T T T 1.414 15.180 0.822 N N -0.451 1.275 -0.522 1.167 0.999 0.651 0.709 0.645 0.605 . 3.830 3.830 0.192 0.097 0.599 0.000 0.028 0.575 753 . . . . PRR12 109 0 129 14 0.0979020979020979 TRUE NA ENSG00000186976.15 . BCM GRCh38.p13 chr22 43554895 43554895 + G G A Missense_Mutation SNP ENST00000262726.12 exon27 c.C3622T p.R1208C exonic ENSG00000186976.15 . nonsynonymous SNV ENSG00000186976.15:ENST00000262726.12:exon27:c.C3622T:p.R1208C 22q13.2 C3N-03006 2.471e-05 0 0 0 0 1.498e-05 0 0.0001 rs374118424 5.20 T D D P N N N T N 0.382 T T D 0.273 . 0.601 0.266 T T T T D T 3.110 23.700 0.993 D N -0.605 0.978 -0.640 0.987 0.000 0.554 0.547 0.602 0.564 . 4.880 2.800 1.781 0.218 -0.114 0.925 0.006 0.013 846 EF-hand_domain;DJBP,_EF-hand_domain . . . EFCAB6 176 0 207 11 0.0504587155963303 TRUE NA ENSG00000189401.3 . BCM GRCh38.p13 chrX 70062573 70062573 + C C T Missense_Mutation SNP ENST00000338352.3 exon1 c.C49T p.R17C exonic ENSG00000189401.3 . nonsynonymous SNV ENSG00000189401.3:ENST00000338352.3:exon1:c.C49T:p.R17C Xq13.1 C3N-03006 1.501e-05 0.0001 0 0 0 0 0 0 rs760944430 8.19 D D B B D N M T D 0.249 T T D 0.119 0.239 0.231 1.605 T T T T D D 1.476 15.590 0.993 N . . . . . 0.000 . . . . . 4.220 3.350 0.340 0.128 -0.239 0.000 0.005 0.000 170 . . . ID=COSV57972949;OCCURENCE=2(large_intestine),1(haematopoietic_and_lymphoid_tissue) OTUD6A 173 1 172 30 0.148514851485149 TRUE TRUE ENSG00000175718.10 . BCM GRCh38.p13 chrX 115191788 115191788 + C C T Nonsense_Mutation SNP ENST00000424776.5 exon1 c.C2347T p.R783X exonic ENSG00000175718.10 . stopgain ENSG00000175718.10:ENST00000424776.5:exon1:c.C2347T:p.R783X Xq23 C3N-03006 . . . . . . . . . 3.4 . . . . . D . . . 0.024 . . . . . . . . . D D . . 5.134 33 0.987 N . . . . . 0.016 . . . . . 0.920 -0.333 0.136 0.319 0.268 0.262 0.002 0.002 937 . . . ID=COSV100407349;OCCURENCE=1(endometrium) RBMXL3 445 0 484 49 0.0919324577861163 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675237 7675237 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon5:c.376-1G>A . . 17p13.1 C3N-03006 . . . . . . . . rs868137297 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.764 34 0.992 D . 1.034 15.036 0.849 11.733 1.000 0.284 0.272 0.299 0.344 0.828 4.870 3.900 7.742 1.026 0.599 1.000 0.929 0.884 434 . . . ID=COSV52688618;OCCURENCE=14(breast),7(liver),6(oesophagus),10(large_intestine),5(central_nervous_system),1(biliary_tract),1(fallopian_tube),5(ovary),1(NS),6(haematopoietic_and_lymphoid_tissue),4(stomach),2(soft_tissue),1(urinary_tract),8(pancreas),1(skin),2(prostate),2(lung),4(upper_aerodigestive_tract) TP53 264 0 237 28 0.105660377358491 TRUE TRUE ENSG00000102287.19 . BCM GRCh38.p13 chrX 151959837 151959837 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000102287.19 ENST00000370328.4:exon6:c.784+2T>C . . Xq28 C3N-03006 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 4.187 28.500 0.949 D . . . . . 1.000 . . . . 0.691 5.520 5.520 8.309 1.207 0.756 1.000 0.083 0.090 778 . . . . GABRE 100 0 139 12 0.0794701986754967 TRUE TRUE ENSG00000134698.11 . BCM GRCh38.p13 chr1 35825679 35825679 + G G A Silent SNP ENST00000373210.4 exon5 c.G489A p.R163R exonic ENSG00000134698.11 . synonymous SNV ENSG00000134698.11:ENST00000373210.4:exon5:c.G489A:p.R163R 1p34.3 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGO4 24 0 33 5 0.131578947368421 NA TRUE ENSG00000136630.13 . BCM GRCh38.p13 chr1 220880100 220880100 + G G C Silent SNP ENST00000366903.8 exon1 c.G243C p.P81P exonic ENSG00000136630.13 . synonymous SNV ENSG00000136630.13:ENST00000366903.8:exon1:c.G243C:p.P81P 1q41 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLX 130 0 148 8 0.0512820512820513 TRUE TRUE ENSG00000114349.10 . BCM GRCh38.p13 chr3 50193655 50193655 + G G A Silent SNP ENST00000232461.8 exon4 c.G441A p.S147S exonic ENSG00000114349.10 . synonymous SNV ENSG00000114349.10:ENST00000232461.8:exon4:c.G441A:p.S147S 3p21.31 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50029261;OCCURENCE=1(stomach) GNAT1 394 0 394 21 0.0506024096385542 TRUE TRUE ENSG00000145147.20 . BCM GRCh38.p13 chr4 20268810 20268810 + G G A Silent SNP ENST00000504154.6 exon4 c.G324A p.L108L exonic ENSG00000145147.20 . synonymous SNV ENSG00000145147.20:ENST00000504154.6:exon4:c.G324A:p.L108L 4p15.31 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLIT2 152 0 212 23 0.0978723404255319 TRUE TRUE ENSG00000040731.10 . BCM GRCh38.p13 chr5 24537522 24537522 + G G A Silent SNP ENST00000264463.8 exon3 c.C384T p.R128R exonic ENSG00000040731.10 . synonymous SNV ENSG00000040731.10:ENST00000264463.8:exon3:c.C384T:p.R128R 5p14.2 C3N-03006 8.249e-06 0 0 0 0 0 0 6.058e-05 rs768905224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52568657;OCCURENCE=6(oesophagus),1(large_intestine),1(stomach),2(upper_aerodigestive_tract) CDH10 401 0 501 97 0.162207357859532 TRUE TRUE ENSG00000204052.4 . BCM GRCh38.p13 chr6 43508893 43508893 + C C T Silent SNP ENST00000372441.1 exon2 c.G300A p.A100A exonic ENSG00000204052.4 . synonymous SNV ENSG00000204052.4:ENST00000372441.1:exon2:c.G300A:p.A100A 6p21.1 C3N-03006 1.927e-05 0 0 0.0003 0 0 0 0 rs746724447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99447762;OCCURENCE=2(large_intestine),1(skin) LRRC73 73 0 80 6 0.0697674418604651 TRUE NA ENSG00000058404.20 . BCM GRCh38.p13 chr7 44229416 44229416 + C C T Silent SNP ENST00000395749.7 exon18 c.G1311A p.P437P exonic ENSG00000058404.20 . synonymous SNV ENSG00000058404.20:ENST00000395749.7:exon18:c.G1311A:p.P437P 7p13 C3N-03006 0.0012 0 0 0 0.025 0.0002 0 0.0029 rs575970166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMK2B 64 0 88 6 0.0638297872340425 TRUE NA ENSG00000105792.19 . BCM GRCh38.p13 chr7 90271545 90271545 + A A T Silent SNP ENST00000389297.8 exon7 c.A552T p.S184S exonic ENSG00000105792.19 . synonymous SNV ENSG00000105792.19:ENST00000389297.8:exon7:c.A552T:p.S184S 7q21.13 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP69 73 0 110 9 0.0756302521008403 TRUE TRUE ENSG00000128564.7 . BCM GRCh38.p13 chr7 101164094 101164094 + T T A Silent SNP ENST00000249330.3 exon2 c.A750T p.G250G exonic ENSG00000128564.7 . synonymous SNV ENSG00000128564.7:ENST00000249330.3:exon2:c.A750T:p.G250G 7q22.1 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VGF 35 0 59 9 0.132352941176471 TRUE TRUE ENSG00000170279.3 . BCM GRCh38.p13 chr7 148614122 148614122 + G G A Silent SNP ENST00000307003.3 exon2 c.G285A p.P95P exonic ENSG00000170279.3 . synonymous SNV ENSG00000170279.3:ENST00000307003.3:exon2:c.G285A:p.P95P 7q36.1 C3N-03006 0.0033 0.0355 0.0014 0 0 0.0001 0.0011 0.0002 rs6965813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C7orf33 368 0 450 27 0.0566037735849057 TRUE NA ENSG00000165895.19 . BCM GRCh38.p13 chr11 100948463 100948463 + G G A Silent SNP ENST00000298815.13 exon11 c.G1050A p.G350G exonic ENSG00000165895.19 . synonymous SNV ENSG00000165895.19:ENST00000298815.13:exon11:c.G1050A:p.G350G 11q22.1 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP42 107 0 173 13 0.0698924731182796 TRUE NA ENSG00000111077.18 . BCM GRCh38.p13 chr12 53060735 53060735 + C C T Silent SNP ENST00000314250.11 exon20 c.C2829T p.G943G exonic ENSG00000111077.18 . synonymous SNV ENSG00000111077.18:ENST00000314250.11:exon20:c.C2829T:p.G943G 12q13.13 C3N-03006 1.76e-05 0 0 0 0 1.576e-05 0 7.458e-05 rs771398245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNS2 104 0 98 10 0.0925925925925926 TRUE NA ENSG00000103522.16 . BCM GRCh38.p13 chr16 27442969 27442969 + G G A Silent SNP ENST00000337929.8 exon5 c.G360A p.P120P exonic ENSG00000103522.16 . synonymous SNV ENSG00000103522.16:ENST00000337929.8:exon5:c.G360A:p.P120P 16p12.1 C3N-03006 0.0004 0.0038 0.0008 0 0 4.537e-05 0 0 rs141558701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100559836;OCCURENCE=1(stomach) IL21R 52 0 57 11 0.161764705882353 TRUE NA ENSG00000275395.6 . BCM GRCh38.p13 chr19 39886049 39886049 + C C A Silent SNP ENST00000616721.6 exon16 c.G8130T p.V2710V exonic ENSG00000275395.6 . synonymous SNV ENSG00000275395.6:ENST00000616721.6:exon16:c.G8130T:p.V2710V 19q13.2 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FCGBP 1732 1 3053 260 0.0784787201931784 NA TRUE ENSG00000127903.14 . BCM GRCh38.p13 chr19 56665082 56665082 + G G A Silent SNP ENST00000537055.4 exon2 c.C117T p.A39A exonic ENSG00000127903.14 . synonymous SNV ENSG00000127903.14:ENST00000537055.4:exon2:c.C117T:p.A39A 19q13.43 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV73379736;OCCURENCE=1(liver),1(prostate) ZNF835 428 0 438 27 0.0580645161290323 TRUE TRUE ENSG00000128271.22 . BCM GRCh38.p13 chr22 24441264 24441264 + C C T Silent SNP ENST00000337539.12 exon3 c.C1014T p.L338L exonic ENSG00000128271.22 . synonymous SNV ENSG00000128271.22:ENST00000337539.12:exon3:c.C1014T:p.L338L 22q11.23 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADORA2A 140 0 134 14 0.0945945945945946 TRUE TRUE ENSG00000155816.20 . BCM GRCh38.p13 chr1 240092087 240092087 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000155816.20 ENST00000319653.14:c.-23C>T . . 1q43 C3N-03006 0.0002 0 0 0.005 0 0 0 0 rs775688107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMN2 68 0 79 16 0.168421052631579 TRUE NA ENSG00000158089.15 . BCM GRCh38.p13 chr2 31125210 31125210 + G G A Intron SNP NA NA NA NA intronic ENSG00000158089.15 . . . 2p23.1 C3N-03006 0.0062 0 0.0035 0.0021 0.0044 0.0068 0 0.0074 rs41280621 1.18 D T B B N N . T N 0.034 T T T 0.062 . 0.085 0.229 T . T T T T -1.558 0.001 0.717 N N -2.318 0.002 -2.427 0.002 1.000 0.487 0.573 0.547 0.564 . 3.940 -7.880 -2.070 -2.180 -2.841 0.000 0.000 0.000 937 . . . ID=COSV100204282;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) GALNT14 282 0 313 18 0.054380664652568 TRUE NA ENSG00000237380.7 . BCM GRCh38.p13 chr2 176128836 176128836 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000237380.7 . . . 2q31.1 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXD-AS2 281 0 359 43 0.106965174129353 TRUE NA ENSG00000248546.3 . BCM GRCh38.p13 chr4 164197246 164197246 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000248546.3 . . . 4q32.3 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANP32C 292 0 369 22 0.0562659846547315 TRUE NA ENSG00000198563.14 . BCM GRCh38.p13 chr6 31532951 31532951 + G G C Intron SNP NA NA NA NA intronic ENSG00000198563.14;ENSG00000254870.5 . . . 6p21.33 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDX39B 12 0 12 3 0.2 TRUE NA ENSG00000151914.20 . BCM GRCh38.p13 chr6 56692544 56692544 + A A T Intron SNP NA NA NA NA intronic ENSG00000151914.20 . . . 6p12.1 C3N-03006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DST 167 0 305 23 0.0701219512195122 TRUE NA ENSG00000132681.17 . BCM GRCh38.p13 chr1 160171253 160171253 + G G A Missense_Mutation SNP ENST00000368081.9 exon11 c.G1494A p.M498I exonic ENSG00000132681.17 . nonsynonymous SNV ENSG00000132681.17:ENST00000368081.9:exon11:c.G1494A:p.M498I 1q23.2 C3N-01165 . . . . . . . . . 3.20 D T B B N D L T N 0.097 T T D 0.182 0.511 0.496 0.186 T T T T T T 1.321 14.540 0.668 N N -0.837 0.603 -0.778 0.789 1.000 0.447 0.492 0.468 0.530 . 4.290 1.420 -1.062 0.225 -0.105 0.017 0.991 0.335 407 . . . . ATP1A4 95 0 142 11 0.0718954248366013 TRUE TRUE ENSG00000170128.5 . BCM GRCh38.p13 chr1 200873790 200873790 + C C A Missense_Mutation SNP ENST00000304244.5 exon1 c.C753A p.S251R exonic ENSG00000170128.5 . nonsynonymous SNV ENSG00000170128.5:ENST00000304244.5:exon1:c.C753A:p.S251R 1q32.1 C3N-01165 . . . . . . . . . 6.20 D T P P U D M T N 0.315 T T D 0.262 0.932 0.648 1.756 D T T T D T 3.028 23.500 0.997 N N 0.138 3.039 0.022 2.436 1.000 0.495 0.617 0.479 0.555 . 4.660 4.660 0.557 0.962 0.524 0.006 0.167 0.809 814 GPCR,_rhodopsin-like,_7TM . . . GPR25 229 1 489 61 0.110909090909091 TRUE TRUE ENSG00000198601.3 . BCM GRCh38.p13 chr1 248180037 248180037 + T T A Missense_Mutation SNP ENST00000641211.1 exon3 c.T52A p.F18I exonic ENSG00000198601.3 . nonsynonymous SNV ENSG00000198601.3:ENST00000641211.1:exon3:c.T52A:p.F18I 1q44 C3N-01165 . . . . . . . . . 4.20 D D P P U N L T D 0.195 T T T 0.049 0.441 0.113 0.216 T T T T D T 1.179 13.470 0.958 N N -0.540 1.098 -0.793 0.768 0.000 0.487 0.574 0.574 0.564 . 1.440 -0.180 -3.167 0.383 0.336 0.000 0.005 0.012 976 . . . . OR2M2 147 0 283 15 0.0503355704697987 NA TRUE ENSG00000162981.14 . BCM GRCh38.p13 chr2 14634679 14634679 + G G C Missense_Mutation SNP ENST00000295092.3 exon2 c.G700C p.A234P exonic ENSG00000162981.14 . nonsynonymous SNV ENSG00000162981.14:ENST00000295092.3:exon2:c.G700C:p.A234P 2p24.3 C3N-01165 . . . . . . . . . 4.19 T T P B . D L T N 0.556 T T D 0.159 0.169 0.514 0.604 T T T T T T 2.943 23.300 0.983 D D -0.038 2.377 0.007 2.385 1.000 0.652 0.563 0.641 0.639 . 4.450 4.450 2.650 1.164 0.662 0.820 0.803 0.889 957 . . . . LRATD1 28 0 66 4 0.0571428571428571 TRUE NA ENSG00000189350.12 . BCM GRCh38.p13 chr2 29033005 29033005 + T T C Missense_Mutation SNP ENST00000379558.4 exon15 c.T2084C p.L695P exonic ENSG00000189350.12 . nonsynonymous SNV ENSG00000189350.12:ENST00000379558.4:exon15:c.T2084C:p.L695P 2p23.2 C3N-01165 . . . . . . . . . 11.19 D D D D D D . T D 0.781 T T D 0.267 0.624 0.490 0.442 T T T T D T 3.524 24.800 0.998 D D 0.322 3.894 0.230 3.336 1.000 0.549 0.627 0.602 0.550 . 5.120 3.930 4.228 1.138 0.665 0.628 0.635 0.062 446 TOG_domain . . . TOGARAM2 300 0 496 42 0.0780669144981413 TRUE TRUE ENSG00000091106.19 . BCM GRCh38.p13 chr2 32250951 32250951 + C C T Missense_Mutation SNP ENST00000402280.6 exon4 c.G913A p.A305T exonic ENSG00000091106.19 . nonsynonymous SNV ENSG00000091106.19:ENST00000402280.6:exon4:c.G913A:p.A305T 2p22.3 C3N-01165 3.296e-05 0.0002 0 0.0001 0 1.499e-05 0 0 rs374259187 4.18 T . D D D . N T N 0.326 T T D 0.332 . 0.852 0.730 T T T T T T 2.052 19.650 0.664 N N -0.227 1.801 -0.338 1.487 1.000 0.549 0.588 0.574 0.616 . 3.260 3.260 1.241 0.680 0.477 0.981 0.003 0.008 363 NACHT_nucleoside_triphosphatase . . ID=COSV61593125;OCCURENCE=1(central_nervous_system),1(lung),1(endometrium) NLRC4 310 1 588 50 0.0783699059561129 TRUE TRUE ENSG00000171951.5 . BCM GRCh38.p13 chr2 223598681 223598681 + A A G Missense_Mutation SNP ENST00000305409.3 exon2 c.T602C p.V201A exonic ENSG00000171951.5 . nonsynonymous SNV ENSG00000171951.5:ENST00000305409.3:exon2:c.T602C:p.V201A 2q36.1 C3N-01165 . . . . . . . . . 8.20 T T P P D D M T D 0.855 T T T 0.377 0.774 0.433 0.356 T T D T D T 3.284 24.100 0.997 D D 0.647 6.436 0.684 7.465 1.000 0.615 0.610 0.659 0.542 . 5.650 5.650 8.911 1.312 0.691 1.000 0.999 0.997 940 . . . ID=COSV59539803;OCCURENCE=2(lung) SCG2 284 0 467 68 0.127102803738318 TRUE TRUE ENSG00000163956.13 . BCM GRCh38.p13 chr4 3532276 3532276 + G G A Missense_Mutation SNP ENST00000650182.1 exon1 c.C137T p.P46L exonic ENSG00000163956.13 . nonsynonymous SNV ENSG00000163956.13:ENST00000650182.1:exon1:c.C137T:p.P46L 4p16.3 C3N-01165 . . . . . . . . . 0.20 T T P B N N L T N 0.060 T T T 0.023 0.392 0.534 0.058 T T T T T T 0.867 10.090 0.841 N N -0.781 0.683 -0.913 0.603 1.000 0.442 0.522 0.522 0.562 . 3.450 1.680 0.342 -0.378 -0.789 0.000 0.004 0.019 906 Alpha-2-macroglobulin_receptor-associated_protein,_domain_1 . . . LRPAP1 283 0 677 73 0.0973333333333333 TRUE TRUE ENSG00000086570.12 . BCM GRCh38.p13 chr5 151568301 151568301 + C C T Missense_Mutation SNP ENST00000261800.5 exon1 c.G631A p.V211I exonic ENSG00000086570.12 . nonsynonymous SNV ENSG00000086570.12:ENST00000261800.5:exon1:c.G631A:p.V211I 5q33.1 C3N-01165 9.072e-05 0.0006 0 0 0 4.502e-05 0.0011 6.068e-05 rs201835676 0.20 T T P B N N N T N 0.073 T T T 0.103 . 0.575 0.255 T T T T T T 1.605 16.410 0.995 N N -0.084 2.225 -0.005 2.342 1.000 0.487 0.563 0.574 0.542 . 5.610 5.610 0.319 1.026 0.599 0.022 0.981 0.934 889 Cadherin-like . . ID=COSV99944273;OCCURENCE=1(endometrium) FAT2 171 0 333 49 0.128272251308901 TRUE NA ENSG00000111913.20 . BCM GRCh38.p13 chr6 24873699 24873699 + - NA T Frame_Shift_Ins NA ENST00000259698.9 exon3 c.201dupA p.E68Rfs*5 exonic ENSG00000111913.20 . frameshift insertion ENSG00000111913.20:ENST00000259698.9:exon3:c.201dupA:p.E68Rfs*5 6p22.3 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RIPOR2 NA NA NA NA NA NA NA ENSG00000166508.18 . BCM GRCh38.p13 chr7 100097352 100097352 + C C G Missense_Mutation SNP ENST00000303887.10 exon10 c.G1150C p.G384R exonic ENSG00000166508.18 . nonsynonymous SNV ENSG00000166508.18:ENST00000303887.10:exon10:c.G1150C:p.G384R 7q22.1 C3N-01165 . . . . . . . . . 19.20 D D D D D D H D D 0.936 D D D 0.861 0.905 0.996 0.664 D T D D D D 3.572 24.900 0.999 D D 0.950 12.429 0.816 10.619 1.000 0.672 0.698 0.702 0.711 . 4.970 4.970 2.060 1.026 0.599 0.168 1.000 0.999 182 AAA+_ATPase_domain;MCM_domain . . . MCM7 228 0 428 32 0.0695652173913043 TRUE TRUE ENSG00000107186.16 . BCM GRCh38.p13 chr9 13219761 13219761 + C C T Missense_Mutation SNP ENST00000319217.11 exon8 c.G884A p.R295H exonic ENSG00000107186.16 . nonsynonymous SNV ENSG00000107186.16:ENST00000319217.11:exon8:c.G884A:p.R295H 9p23 C3N-01165 3.352e-05 0 0 0 0 1.512e-05 0 0.0002 rs746099118 13.19 D D D D N D M T D 0.580 T T D 0.467 0.731 0.577 . T T D D D D 3.308 24.100 0.999 D . 0.859 10.042 0.804 10.237 1.000 0.707 0.574 0.725 0.714 . 6.170 6.170 5.649 -0.232 -0.845 1.000 0.989 0.430 607 PDZ_domain . . . MPDZ 182 0 302 39 0.114369501466276 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-01165 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 293 0 571 60 0.0950871632329636 TRUE TRUE ENSG00000100473.18 . BCM GRCh38.p13 chr14 30879441 30879443 + AGG AGG - In_Frame_Del DEL ENST00000396618.9 exon6 c.392_394del p.E132del exonic ENSG00000100473.18 . nonframeshift deletion ENSG00000100473.18:ENST00000396618.9:exon6:c.392_394del:p.E132del 14q12 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COCH 397 0 677 63 0.0851351351351351 TRUE TRUE ENSG00000140400.17 . BCM GRCh38.p13 chr15 75356866 75356866 + C C T Missense_Mutation SNP ENST00000267978.10 exon22 c.G2584A p.G862S exonic ENSG00000140400.17 . nonsynonymous SNV ENSG00000140400.17:ENST00000267978.10:exon22:c.G2584A:p.G862S 15q24.2 C3N-01165 0.0001 9.66e-05 0 0 0 0.0001 0.0011 0.0003 rs369832470 9.20 D D P B N D M T D 0.513 T T D 0.118 . 0.547 0.144 T D T T T D 1.975 19.060 0.995 D N 0.183 3.230 0.179 3.080 1.000 0.707 0.644 0.607 0.714 . 5.090 3.210 3.790 1.026 0.597 1.000 0.070 0.350 514 Glycosyl_hydrolase_family_38,_C-terminal . . . MAN2C1 276 0 571 103 0.152818991097923 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673802 7673802 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G818A p.R273H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G818A:p.R273H 17p13.1 C3N-01165 2.628e-05 0 0 0 0 4.746e-05 0 0 rs28934576 19.20 D D D D D A M D D 0.965 D D D 0.868 . 0.997 0.264 T D D D D D 3.527 24.800 0.998 D D 0.383 4.238 0.333 3.915 1.000 0.722 0.702 0.725 0.735 . 4.920 4.920 7.905 1.022 0.596 1.000 0.856 0.980 432 p53,_DNA-binding_domain . . ID=COSV52660980;OCCURENCE=3(salivary_gland),135(breast),5(penis),9(liver),2(genital_tract),55(oesophagus),3(adrenal_gland),1(cervix),301(large_intestine),84(central_nervous_system),18(biliary_tract),1(fallopian_tube),1(pleura),4(vulva),73(ovary),8(bone),6(NS),57(haematopoietic_and_lymphoid_tissue),60(stomach),23(urinary_tract),7(soft_tissue),9(kidney),55(pancreas),15(skin),22(prostate),111(lung),11(thyroid),66(upper_aerodigestive_tract),2(thymus),41(endometrium) TP53 585 1 993 123 0.110215053763441 TRUE TRUE ENSG00000153822.13 . BCM GRCh38.p13 chr17 70132825 70132825 + C C G Missense_Mutation SNP ENST00000615244.4 exon6 c.C738G p.I246M exonic ENSG00000153822.13 . nonsynonymous SNV ENSG00000153822.13:ENST00000615244.4:exon6:c.C738G:p.I246M 17q24.3 C3N-01165 . . . . . . . . . 13.20 D T D D D D L D N 0.766 D D D 0.513 0.685 0.830 0.423 T T D T D T 2.524 22.500 0.991 D D -0.165 1.975 -0.226 1.725 0.063 0.487 0.590 0.574 0.613 . 5.740 0.349 0.022 0.130 -0.176 0.835 0.979 0.810 884 . . . . KCNJ16 384 0 688 70 0.0923482849604222 TRUE TRUE ENSG00000105426.17 . BCM GRCh38.p13 chr19 5274306 5274306 + C C T Missense_Mutation SNP ENST00000587303.5 exon2 c.G130A p.G44S exonic ENSG00000105426.17 . nonsynonymous SNV ENSG00000105426.17:ENST00000587303.5:exon2:c.G130A:p.G44S 19p13.3 C3N-01165 . . . . . . . . . 15.20 D D D D N D N T D 0.841 T T D 0.413 0.400 0.518 . D D D D D D 2.498 22.400 0.997 D D 0.248 3.523 0.227 3.319 1.000 0.672 0.634 0.702 0.655 . 3.700 3.700 7.704 0.947 0.599 1.000 0.305 0.829 988 Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV53609338;OCCURENCE=2(large_intestine) PTPRS 103 0 231 27 0.104651162790698 TRUE TRUE ENSG00000178386.13 . BCM GRCh38.p13 chr19 44067156 44067156 + G G A Missense_Mutation SNP ENST00000434772.8 exon5 c.G1328A p.R443H exonic ENSG00000178386.13;ENSG00000267022.1 . nonsynonymous SNV ENSG00000178386.13:ENST00000434772.8:exon5:c.G1328A:p.R443H,ENSG00000267022.1:ENST00000591793.1:exon7:c.G1658A:p.R553H 19q13.31 C3N-01165 2.476e-05 9.679e-05 8.643e-05 0 0 1.502e-05 0 0 rs777005275 3.19 D D D P . N N T N 0.035 T T T 0.051 0.474 0.171 0.151 T T T T T T 1.988 19.160 0.992 N N -0.703 0.808 -0.934 0.575 0.000 0.563 0.588 0.609 0.636 . 2.460 0.152 -0.359 -1.160 -0.483 0.000 0.000 0.076 611 Zinc_finger_C2H2-type . . ID=COSV69691221;OCCURENCE=1(large_intestine),1(endometrium) ZNF223 173 0 363 33 0.0833333333333333 TRUE TRUE ENSG00000101222.12 . BCM GRCh38.p13 chr20 3779306 3779306 + G G A Missense_Mutation SNP ENST00000379756.3 exon3 c.C268T p.R90C exonic ENSG00000101222.12 . nonsynonymous SNV ENSG00000101222.12:ENST00000379756.3:exon3:c.C268T:p.R90C 20p13 C3N-01165 . . . . . . . . . 11.20 D D D D N D M T D 0.509 T T T 0.203 0.636 0.254 1.557 T T T T D D 4.304 29.600 0.999 D D 0.594 5.859 0.571 5.883 1.000 0.598 0.596 0.615 0.639 . 4.730 4.730 3.667 1.161 0.618 1.000 0.995 0.923 782 CH-like_domain_in_sperm_protein;Calponin_homology_domain . . . SPEF1 62 0 210 23 0.0987124463519313 TRUE TRUE ENSG00000130699.18 . BCM GRCh38.p13 chr20 62065242 62065242 + G G A Missense_Mutation SNP ENST00000252996.8 exon1 c.C569T p.A190V exonic ENSG00000130699.18 . nonsynonymous SNV ENSG00000130699.18:ENST00000252996.8:exon1:c.C569T:p.A190V 20q13.33 C3N-01165 . . . . . . . . . 2.19 D T B B U N N T N 0.214 T T D 0.051 0.161 0.408 0.685 T T T T T T 1.241 13.950 0.978 N . -1.190 0.234 -1.215 0.271 1.000 0.455 0.609 0.507 0.555 . 1.780 -3.560 -0.124 0.678 0.133 0.959 0.986 0.410 934 . . . . TAF4 40 0 153 15 0.0892857142857143 TRUE NA ENSG00000185222.10 . BCM GRCh38.p13 chrX 103357883 103357883 + A A G Missense_Mutation SNP ENST00000372661.6 exon3 c.A199G p.N67D exonic ENSG00000185222.10 . nonsynonymous SNV ENSG00000185222.10:ENST00000372661.6:exon3:c.A199G:p.N67D Xq22.2 C3N-01165 . . . . . . . . . 2.18 T T B B N N . T D 0.213 T T T 0.137 0.547 0.294 0.066 T T T T T T 1.563 16.140 0.966 D . . . . . 1.000 . . . . . 4.040 4.040 0.705 1.207 0.756 1.000 0.997 0.998 245 . . . . TCEAL9 323 0 515 64 0.110535405872193 TRUE TRUE ENSG00000123165.8 . BCM GRCh38.p13 chrX 128051516 128051516 + G G A Missense_Mutation SNP ENST00000371124.4 exon1 c.C691T p.R231C exonic ENSG00000123165.8 . nonsynonymous SNV ENSG00000123165.8:ENST00000371124.4:exon1:c.C691T:p.R231C Xq25 C3N-01165 1.14e-05 0.0001 0 0 0 0 0 0 rs749902150 2.19 T T B B N N N D N 0.099 T D T 0.191 0.317 0.973 0.029 T T T T T T -0.493 0.123 0.555 N . . . . . 0.001 . . . . . 3.450 -6.890 -1.470 -4.145 -4.561 0.000 0.000 0.000 900 . . . ID=COSV64419079;OCCURENCE=1(large_intestine),1(ovary),1(upper_aerodigestive_tract) ACTRT1 297 0 562 61 0.0979133226324237 TRUE TRUE ENSG00000163491.16 . BCM GRCh38.p13 chr3 27344301 27344301 + G G T Silent SNP ENST00000429845.6 exon6 c.C333A p.T111T exonic ENSG00000163491.16 . synonymous SNV ENSG00000163491.16:ENST00000429845.6:exon6:c.C333A:p.T111T 3p24.1 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100412230;OCCURENCE=1(skin) NEK10 170 0 289 35 0.108024691358025 TRUE TRUE ENSG00000164506.14 . BCM GRCh38.p13 chr6 147334203 147334203 + C C T Silent SNP ENST00000321680.10 exon19 c.C2127T p.R709R exonic ENSG00000164506.14 . synonymous SNV ENSG00000164506.14:ENST00000321680.10:exon19:c.C2127T:p.R709R 6q24.3 C3N-01165 1.654e-05 0 0 0 0 0 0 0.0001 rs747661250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STXBP5 184 0 335 40 0.106666666666667 TRUE NA ENSG00000165061.15 . BCM GRCh38.p13 chr8 40674708 40674708 + C C T Silent SNP ENST00000297737.11 exon5 c.G573A p.L191L exonic ENSG00000165061.15 . synonymous SNV ENSG00000165061.15:ENST00000297737.11:exon5:c.G573A:p.L191L 8p11.21 C3N-01165 3.299e-05 0 0 0 0 4.5e-05 0 6.064e-05 rs753809814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52704254;OCCURENCE=1(cervix) ZMAT4 136 0 339 28 0.0762942779291553 TRUE TRUE ENSG00000169122.11 . BCM GRCh38.p13 chr8 58146749 58146749 + C C T Silent SNP ENST00000361488.7 exon5 c.C519T p.S173S exonic ENSG00000169122.11 . synonymous SNV ENSG00000169122.11:ENST00000361488.7:exon5:c.C519T:p.S173S 8q12.1 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM110B 113 0 191 22 0.103286384976526 TRUE TRUE ENSG00000079102.16 . BCM GRCh38.p13 chr8 91970727 91970727 + G G A Silent SNP ENST00000613302.4 exon13 c.C1470T p.V490V exonic ENSG00000079102.16 . synonymous SNV ENSG00000079102.16:ENST00000613302.4:exon13:c.C1470T:p.V490V 8q21.3 C3N-01165 3.3e-05 0 0 0 0 3.003e-05 0 0.0001 rs747468228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56145882;OCCURENCE=1(stomach) RUNX1T1 155 1 345 24 0.0650406504065041 TRUE NA ENSG00000048828.17 . BCM GRCh38.p13 chr9 93516021 93516021 + G G A Silent SNP ENST00000277165.11 exon7 c.G1170A p.Q390Q exonic ENSG00000048828.17 . synonymous SNV ENSG00000048828.17:ENST00000277165.11:exon7:c.G1170A:p.Q390Q 9q22.31 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM120A 130 0 260 25 0.087719298245614 NA TRUE ENSG00000110274.16 . BCM GRCh38.p13 chr11 117396168 117396168 + A A G Silent SNP ENST00000278935.8 exon25 c.A3204G p.K1068K exonic ENSG00000110274.16 . synonymous SNV ENSG00000110274.16:ENST00000278935.8:exon25:c.A3204G:p.K1068K 11q23.3 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEP164 127 0 257 30 0.104529616724739 TRUE TRUE ENSG00000102054.18 . BCM GRCh38.p13 chrX 16853726 16853726 + G G A Silent SNP ENST00000380087.7 exon6 c.C714T p.H238H exonic ENSG00000102054.18 . synonymous SNV ENSG00000102054.18:ENST00000380087.7:exon6:c.C714T:p.H238H Xp22.2 C3N-01165 1.182e-05 0.0001 0 0 0 0 0 0 rs150009710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBBP7 72 0 142 17 0.106918238993711 TRUE NA ENSG00000188917.15 . BCM GRCh38.p13 chrX 101022015 101022015 + T T C Silent SNP ENST00000372936.4 exon9 c.A804G p.R268R exonic ENSG00000188917.15 . synonymous SNV ENSG00000188917.15:ENST00000372936.4:exon9:c.A804G:p.R268R Xq22.1 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRMT2B 186 0 374 42 0.100961538461538 TRUE TRUE ENSG00000102195.10 . BCM GRCh38.p13 chrX 151180594 151180594 + C C T Silent SNP ENST00000218316.4 exon2 c.C1011T p.R337R exonic ENSG00000102195.10 . synonymous SNV ENSG00000102195.10:ENST00000218316.4:exon2:c.C1011T:p.R337R Xq28 C3N-01165 2.298e-05 0 0.0002 0 0 0 0 0 rs191496491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54438686;OCCURENCE=1(liver),2(stomach),1(pancreas) GPR50 212 1 375 50 0.117647058823529 NA TRUE ENSG00000179915.23 . BCM GRCh38.p13 chr2 50656386 50656386 + C C A Intron SNP NA NA NA NA intronic ENSG00000179915.23 . . . 2p16.3 C3N-01165 . . . . . . . . . 1.3 . . . . . N . . . 0.258 . . . . . . . . . . . . D 0.631 7.811 0.559 N . . . . . 0.011 0.054 0.063 0.060 0.057 0.046 3.030 -0.142 0.104 0.027 0.455 0.000 0.001 0.041 809 . . . . NRXN1 131 0 226 17 0.0699588477366255 TRUE NA ENSG00000167996.16 . BCM GRCh38.p13 chr11 61965565 61965565 + T T A Intron SNP NA NA NA NA intronic ENSG00000167996.16 . . . 11q12.3 C3N-01165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FTH1 398 0 831 59 0.0662921348314607 TRUE NA ENSG00000092853.14 . BCM GRCh38.p13 chr1 35764555 35764555 + G G A Missense_Mutation SNP ENST00000318121.8 exon3 c.C293T p.T98I exonic ENSG00000092853.14 . nonsynonymous SNV ENSG00000092853.14:ENST00000318121.8:exon3:c.C293T:p.T98I 1p34.3 C3N-03173 . . . . . . . . . 0.20 T T P B N N N T N 0.126 T T T 0.003 0.243 0.168 0.126 T T T T T T 1.292 14.330 0.942 N N -0.676 0.853 -0.647 0.977 1.000 0.706 0.663 0.725 0.613 . 6.030 3.170 1.115 0.027 0.676 0.330 0.153 0.944 197 . . . . CLSPN 214 0 195 20 0.0930232558139535 TRUE TRUE ENSG00000127124.16 . BCM GRCh38.p13 chr1 41524878 41524878 + C C T Missense_Mutation SNP ENST00000372583.6 exon6 c.G5240A p.R1747Q exonic ENSG00000127124.16 . nonsynonymous SNV ENSG00000127124.16:ENST00000372583.6:exon6:c.G5240A:p.R1747Q 1p34.2 C3N-03173 2.476e-05 0 8.651e-05 0.0001 0 1.503e-05 0 0 rs769827954 14.20 D D D D N D M T D 0.772 T T D 0.421 0.544 0.505 0.799 D D T T D D 4.144 28.100 1.000 D D 0.831 9.407 0.781 9.585 1.000 0.651 0.709 0.578 0.621 . 4.850 4.850 7.905 1.026 0.599 1.000 1.000 1.000 455 . . . ID=COSV56014043;OCCURENCE=1(urinary_tract),1(skin) HIVEP3 308 0 244 26 0.0962962962962963 TRUE TRUE ENSG00000162779.22 . BCM GRCh38.p13 chr1 179468597 179468597 + C C A Missense_Mutation SNP ENST00000367618.8 exon17 c.C1953A p.N651K exonic ENSG00000162779.22 . nonsynonymous SNV ENSG00000162779.22:ENST00000367618.8:exon17:c.C1953A:p.N651K 1q25.2 C3N-03173 . . . . . . . . . 1.20 T T B B N N M T N 0.348 T T T 0.029 0.436 0.048 0.028 T T T T T T -0.406 0.187 0.249 N N -1.243 0.198 -1.353 0.177 0.000 0.500 0.574 0.547 0.504 . 4.240 -2.140 -1.443 0.099 -0.182 0.000 0.002 0.000 556 . . . . AXDND1 85 0 57 8 0.123076923076923 TRUE NA ENSG00000143493.13 . BCM GRCh38.p13 chr1 211944943 211944943 + A A C Missense_Mutation SNP ENST00000366994.8 exon19 c.T2442G p.N814K exonic ENSG00000143493.13 . nonsynonymous SNV ENSG00000143493.13:ENST00000366994.8:exon19:c.T2442G:p.N814K 1q32.3 C3N-03173 . . . . . . . . . 6.20 T T P B D D N T N 0.405 T T T 0.103 0.300 0.275 0.253 D T T T D D 1.987 19.160 0.988 D N -0.357 1.479 -0.231 1.714 1.000 0.778 0.725 0.854 0.711 . 5.640 3.780 0.416 0.226 -0.106 0.998 0.999 0.989 678 . . . . INTS7 155 0 160 17 0.096045197740113 TRUE TRUE ENSG00000135636.14 . BCM GRCh38.p13 chr2 71539162 71539162 + G G A Missense_Mutation SNP ENST00000258104.7 exon16 c.G1403A p.R468H exonic ENSG00000135636.14 . nonsynonymous SNV ENSG00000135636.14:ENST00000258104.7:exon16:c.G1403A:p.R468H 2p13.2 C3N-03173 1.647e-05 9.612e-05 0 0 0 0 0 6.057e-05 rs775370021 17.20 D D D D D D M T D 0.753 D D D 0.593 0.570 0.908 0.686 T D T D D D 4.320 29.700 0.999 D D 0.856 9.974 0.764 9.135 1.000 0.707 0.574 0.645 0.714 . 5.050 5.050 7.027 1.176 0.676 1.000 1.000 0.983 522 Ferlin,_third_C2_domain;C2_domain . . ID=COSV50269980;OCCURENCE=1(large_intestine),1(stomach) DYSF 387 0 384 34 0.0813397129186603 TRUE TRUE ENSG00000163491.16 . BCM GRCh38.p13 chr3 27119825 27119825 + G G T Missense_Mutation SNP ENST00000429845.6 exon36 c.C3296A p.T1099K exonic ENSG00000163491.16 . nonsynonymous SNV ENSG00000163491.16:ENST00000429845.6:exon36:c.C3296A:p.T1099K 3p24.1 C3N-03173 . . . . . . . . . 7.17 D D D P . N . T N 0.724 T T D 0.145 0.243 0.838 . . T D T D T 2.678 22.800 0.990 D N 0.114 2.941 0.137 2.892 0.094 0.554 0.574 0.574 0.621 . 5.940 5.080 1.993 -0.151 -0.130 1.000 0.255 0.971 638 . . . . NEK10 232 0 211 33 0.135245901639344 TRUE TRUE ENSG00000114656.12 . BCM GRCh38.p13 chr3 128977028 128977028 + T T C Missense_Mutation SNP ENST00000265068.9 exon6 c.A847G p.S283G exonic ENSG00000114656.12 . nonsynonymous SNV ENSG00000114656.12:ENST00000265068.9:exon6:c.A847G:p.S283G 3q21.3 C3N-03173 . . . . . . . . . 0.19 T T B B N N L . N 0.085 T T T 0.003 0.140 0.014 0.156 T T T T T T -0.361 0.232 0.771 N N -1.417 0.110 -1.491 0.111 0.000 0.554 0.590 0.602 0.542 . 3.620 -3.520 -1.285 -0.712 -0.194 0.000 0.001 0.127 603 . . . . KIAA1257 293 0 366 28 0.0710659898477157 TRUE TRUE ENSG00000152592.14 . BCM GRCh38.p13 chr4 87663306 87663306 + C C A Missense_Mutation SNP ENST00000339673.11 exon6 c.C1528A p.Q510K exonic ENSG00000152592.14 . nonsynonymous SNV ENSG00000152592.14:ENST00000339673.11:exon6:c.C1528A:p.Q510K 4q22.1 C3N-03173 . . . . . . . . . 13.20 D T D D D D M T N 0.843 T T D 0.271 0.545 0.919 0.065 T T D D D D 3.503 24.700 0.985 D D 0.675 6.781 0.658 7.036 0.998 0.487 0.574 0.574 0.542 . 5.900 5.900 5.025 1.026 0.599 1.000 0.987 0.675 419 . . . ID=COSV99218567;OCCURENCE=1(endometrium) DMP1 366 0 315 23 0.0680473372781065 TRUE TRUE ENSG00000172403.11 . BCM GRCh38.p13 chr4 119023433 119023433 + C C T Nonsense_Mutation SNP ENST00000429713.7 exon2 c.C109T p.R37X exonic ENSG00000172403.11 . stopgain ENSG00000172403.11:ENST00000429713.7:exon2:c.C109T:p.R37X 4q26 C3N-03173 . . . . . . . . . 5.6 . . . . D A . . . 0.925 . . . . . . . . . D D . . 6.648 36 0.998 D N 0.724 7.473 0.593 6.132 1.000 0.554 0.574 0.602 0.613 . 5.660 4.810 3.126 1.026 0.599 1.000 0.998 0.996 576 PDZ_domain . . ID=COSV61110482;OCCURENCE=3(large_intestine),1(skin),1(thyroid),2(endometrium) SYNPO2 77 0 52 4 0.0714285714285714 NA TRUE ENSG00000113504.21 . BCM GRCh38.p13 chr5 1052373 1052373 + G G T Missense_Mutation SNP ENST00000264930.10 exon24 c.C3239A p.T1080N exonic ENSG00000113504.21 . nonsynonymous SNV ENSG00000113504.21:ENST00000264930.10:exon24:c.C3239A:p.T1080N 5p15.33 C3N-03173 . . . . . . . . . 18.20 D D D D D D H T D 0.886 D D D 0.594 0.501 0.858 1.110 T D D D D D 3.880 26.200 0.995 D D 0.842 9.664 0.719 8.123 1.000 0.707 0.709 0.723 0.714 . 3.880 3.880 9.092 1.028 0.618 1.000 1.000 0.996 976 SLC12A_transporter,_C-terminal . . . SLC12A7 234 1 261 27 0.09375 TRUE TRUE ENSG00000146352.13 . BCM GRCh38.p13 chr6 122997985 122997985 + C C T Missense_Mutation SNP ENST00000275162.10 exon2 c.C208T p.R70C exonic ENSG00000146352.13 . nonsynonymous SNV ENSG00000146352.13:ENST00000275162.10:exon2:c.C208T:p.R70C 6q22.31 C3N-03173 . . . . . . . . . 20.20 D D D D D D M D D 0.642 D D D 0.604 0.539 0.865 1.854 D D D D D D 4.169 28.400 0.999 D D 0.655 6.529 0.653 6.957 1.000 0.583 0.563 0.615 0.530 . 5.390 5.390 2.566 1.026 0.549 1.000 1.000 0.999 839 CRAL/TRIO,_N-terminal_domain . . . CLVS2 323 0 275 18 0.0614334470989761 TRUE NA ENSG00000188730.5 . BCM GRCh38.p13 chr7 49775692 49775692 + G G A Missense_Mutation SNP ENST00000340652.5 exon2 c.G257A p.G86D exonic ENSG00000188730.5 . nonsynonymous SNV ENSG00000188730.5:ENST00000340652.5:exon2:c.G257A:p.G86D 7p12.2 C3N-03173 . . . . . . . . . 2.20 T T B B N N N T N 0.121 T T D 0.086 0.097 0.458 1.281 D T T T T T 2.482 22.400 0.983 N N -0.594 0.999 -0.493 1.213 0.955 0.598 0.596 0.607 0.639 . 4.920 2.780 1.474 1.009 0.588 0.787 0.680 0.145 954 . . . . VWC2 211 0 169 24 0.124352331606218 TRUE TRUE ENSG00000146955.11 . BCM GRCh38.p13 chr7 140407726 140407726 + A A G Missense_Mutation SNP ENST00000537763.6 exon2 c.A80G p.N27S exonic ENSG00000146955.11 . nonsynonymous SNV ENSG00000146955.11:ENST00000537763.6:exon2:c.A80G:p.N27S 7q34 C3N-03173 3.295e-05 0 0 0.0001 0 4.495e-05 0 0 rs367821693 7.20 T T P P D D N D N 0.513 T T D 0.338 . 0.547 0.542 T T T T T D 2.710 22.800 0.999 D D 0.210 3.350 0.304 3.740 1.000 0.706 0.588 0.710 0.564 . 5.950 4.760 5.308 1.312 0.756 1.000 0.998 0.998 672 Small_GTP-binding_protein_domain . . . RAB19 342 0 352 37 0.0951156812339332 TRUE NA ENSG00000055118.15 . BCM GRCh38.p13 chr7 150958110 150958110 + C C T Missense_Mutation SNP ENST00000262186.10 exon4 c.G865A p.E289K exonic ENSG00000055118.15 . nonsynonymous SNV ENSG00000055118.15:ENST00000262186.10:exon4:c.G865A:p.E289K 7q36.1 C3N-03173 . . . . . . . . rs199472880 12.20 T T B B D D N D N 0.520 D D D 0.694 0.760 1.000 1.171 D T D D T D 2.573 22.600 0.998 D D -0.078 2.247 0.039 2.497 1.000 0.598 0.590 0.507 0.639 . 3.820 3.820 1.693 0.951 0.524 0.727 0.968 0.807 856 . . . ID=COSV100061559;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) KCNH2 39 0 54 3 0.0526315789473684 TRUE NA ENSG00000044459.15 . BCM GRCh38.p13 chr9 17342368 17342368 + C C T Nonsense_Mutation SNP ENST00000380647.8 exon12 c.C1810T p.R604X exonic ENSG00000044459.15 . stopgain ENSG00000044459.15:ENST00000380647.8:exon12:c.C1810T:p.R604X 9p22.2 C3N-03173 2.491e-05 0.0001 0 0.0001 0 1.502e-05 0 0 rs375104473 4.5 . . . . . A . . . 0.051 . . . . . . . . . D D . . 6.727 36 0.998 D N 0.639 6.347 0.460 4.816 0.721 0.706 0.588 0.710 0.655 . 5.450 4.520 0.269 -0.758 -0.189 0.945 0.350 0.614 593 . . . ID=COSV52080648;OCCURENCE=1(endometrium) CNTLN 233 0 196 16 0.0754716981132075 TRUE TRUE ENSG00000128815.19 . BCM GRCh38.p13 chr10 48822446 48822446 + - NA CA Frame_Shift_Ins INS ENST00000325239.11 exon35 c.5891_5892insCA p.Q1966Pfs*50 exonic ENSG00000128815.19 . frameshift insertion ENSG00000128815.19:ENST00000325239.11:exon35:c.5891_5892insCA:p.Q1966Pfs*50 10q11.23 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDFY4 NA NA NA NA NA NA NA ENSG00000107719.9 . BCM GRCh38.p13 chr10 70538892 70538892 + C C T Missense_Mutation SNP ENST00000263563.7 exon13 c.C1453T p.R485W exonic ENSG00000107719.9 . nonsynonymous SNV ENSG00000107719.9:ENST00000263563.7:exon13:c.C1453T:p.R485W 10q22.1 C3N-03173 8.348e-06 0 0 0 0 1.527e-05 0 0 rs759096960 7.20 D D D P N D L T N 0.332 T T D 0.138 . 0.582 0.536 T T T T D T 2.357 21.900 0.993 D N -0.580 1.025 -0.712 0.882 1.000 0.696 0.602 0.723 0.636 . 5.010 -0.032 1.103 -0.159 -0.859 0.882 0.050 0.013 388 . . . . PALD1 185 0 158 16 0.0919540229885057 TRUE NA ENSG00000110497.14 . BCM GRCh38.p13 chr11 46545611 46545611 + G G A Missense_Mutation SNP ENST00000458649.6 exon5 c.C544T p.R182W exonic ENSG00000110497.14 . nonsynonymous SNV ENSG00000110497.14:ENST00000458649.6:exon5:c.C544T:p.R182W 11p11.2 C3N-03173 8.258e-06 0 0 0 0 1.502e-05 0 0 rs757353536 15.20 D D D D D D L T D 0.465 T T D 0.344 0.595 0.455 0.649 D D T D D D 3.668 25.300 0.997 D D 0.358 4.093 0.375 4.189 0.882 0.719 0.725 0.723 0.714 . 5.830 3.740 2.938 0.227 -0.182 1.000 0.983 0.685 0 . . . . AMBRA1 120 0 106 19 0.152 TRUE NA ENSG00000176567.1 . BCM GRCh38.p13 chr11 48263976 48263976 + G G T Missense_Mutation SNP ENST00000320048.1 exon1 c.G116T p.G39V exonic ENSG00000176567.1 . nonsynonymous SNV ENSG00000176567.1:ENST00000320048.1:exon1:c.G116T:p.G39V 11p11.2 C3N-03173 . . . . . . . . . 8.19 D D D D . N M T D 0.615 T T T 0.148 0.823 0.761 0.006 T T T T D T 3.042 23.500 0.996 D N 0.655 6.539 0.482 4.997 0.001 0.487 0.574 0.574 0.564 . 4.150 4.150 2.176 1.126 0.565 0.991 0.803 0.297 120 GPCR,_rhodopsin-like,_7TM . . . OR4X1 405 0 370 44 0.106280193236715 TRUE TRUE ENSG00000133318.14 . BCM GRCh38.p13 chr11 63718809 63718809 + - NA A Frame_Shift_Ins INS ENST00000377819.10 exon3 c.308dupA p.S105Kfs*50 exonic ENSG00000133318.14 . frameshift insertion ENSG00000133318.14:ENST00000377819.10:exon3:c.308dupA:p.S105Kfs*50 11q13.1 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RTN3 NA NA NA NA NA NA NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-03173 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 268 0 266 26 0.089041095890411 TRUE TRUE ENSG00000167548.15 . BCM GRCh38.p13 chr12 49052223 49052223 + C C T Missense_Mutation SNP ENST00000301067.11 exon10 c.G1460A p.R487Q exonic ENSG00000167548.15 . nonsynonymous SNV ENSG00000167548.15:ENST00000301067.11:exon10:c.G1460A:p.R487Q 12q13.12 C3N-03173 2.492e-05 0 0 0 0 4.511e-05 0 0 rs778182231 1.18 T . B B . N N T N 0.036 T T D 0.150 0.245 0.241 0.214 T T T T T T -1.356 0.001 0.455 N N -1.330 0.149 -1.384 0.160 0.990 0.707 0.702 0.702 0.714 . 2.630 -1.010 -0.818 -3.396 -4.906 0.000 0.000 0.000 360 . . . . KMT2D 93 0 90 6 0.0625 TRUE NA ENSG00000185640.6 . BCM GRCh38.p13 chr12 52830054 52830054 + T T C Missense_Mutation SNP ENST00000330553.6 exon4 c.A824G p.E275G exonic ENSG00000185640.6 . nonsynonymous SNV ENSG00000185640.6:ENST00000330553.6:exon4:c.A824G:p.E275G 12q13.13 C3N-03173 . . . . . . . . . 17.20 D D D D N D H D D 0.912 D D D 0.788 0.638 0.829 0.491 T D D D D T 4.497 32 0.999 D D 0.786 8.508 0.669 7.208 1.000 0.549 0.627 0.547 0.530 . 4.540 4.540 7.652 1.138 0.665 1.000 0.993 0.994 553 Intermediate_filament,_rod_domain . . . KRT79 169 1 206 11 0.0506912442396313 TRUE NA ENSG00000111450.14 . BCM GRCh38.p13 chr12 130798605 130798605 + C C T Missense_Mutation SNP ENST00000392373.7 exon9 c.G706A p.V236I exonic ENSG00000111450.14 . nonsynonymous SNV ENSG00000111450.14:ENST00000392373.7:exon9:c.G706A:p.V236I 12q24.33 C3N-03173 . . . . . . . . . 5.20 T T D D N D L T N 0.284 T T T 0.184 0.580 0.806 0.414 T T T T D T 1.340 14.670 0.984 D N 0.009 2.542 -0.092 2.071 1.000 0.732 0.744 0.744 0.728 . 5.010 4.130 3.482 -0.276 -0.935 0.996 0.006 0.022 929 Syntaxin/epimorphin,_conserved_site;Target_SNARE_coiled-coil_homology_domain . . . STX2 140 0 143 12 0.0774193548387097 TRUE TRUE ENSG00000021645.19 . BCM GRCh38.p13 chr14 79663901 79663901 + G G A Missense_Mutation SNP ENST00000557594.5 exon3 c.G553A p.A185T exonic ENSG00000021645.19 . nonsynonymous SNV ENSG00000021645.19:ENST00000557594.5:exon3:c.G553A:p.A185T 14q31.1 C3N-03173 . . . . . . . . . 18.19 D D D D D D . T D 0.847 D D D 0.717 0.550 0.887 0.644 D D D D D D 4.047 27.300 0.999 D D 0.744 7.784 0.733 8.421 1.000 0.638 0.588 0.653 0.621 . 5.630 5.630 9.981 1.155 0.654 1.000 0.276 0.535 938 Laminin_G_domain . . . NRXN3 254 0 247 15 0.0572519083969466 TRUE TRUE ENSG00000198901.14 . BCM GRCh38.p13 chr15 90981748 90981748 + - NA T Frame_Shift_Ins INS ENST00000394249.8 exon4 c.500dupA p.A168Gfs*3 exonic ENSG00000198901.14 . frameshift insertion ENSG00000198901.14:ENST00000394249.8:exon4:c.500dupA:p.A168Gfs*3 15q26.1 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRC1 NA NA NA NA NA NA NA ENSG00000167394.13 . BCM GRCh38.p13 chr16 31063900 31063900 + C C T Missense_Mutation SNP ENST00000300849.5 exon2 c.G560A p.R187Q exonic ENSG00000167394.13 . nonsynonymous SNV ENSG00000167394.13:ENST00000300849.5:exon2:c.G560A:p.R187Q 16p11.2 C3N-03173 . . . . . . . . . 5.16 T T . . D D . T N 0.189 T T T 0.159 0.389 0.619 1.060 D . T T T D 3.187 23.800 0.960 D N -0.093 2.197 0.054 2.552 1.000 0.672 0.702 0.723 0.636 . 5.180 5.180 0.696 1.026 0.599 0.993 1.000 0.996 45 Zinc_finger_C2H2-type . . . ZNF668 166 0 178 11 0.0582010582010582 TRUE NA ENSG00000140675.13 . BCM GRCh38.p13 chr16 31488745 31488745 + G G A Missense_Mutation SNP ENST00000330498.4 exon10 c.G1253A p.G418D exonic ENSG00000140675.13 . nonsynonymous SNV ENSG00000140675.13:ENST00000330498.4:exon10:c.G1253A:p.G418D 16p11.2 C3N-03173 . . . . . . . . . 5.20 D D B B N N N D N 0.420 T T D 0.260 0.486 0.751 0.345 T T T T T D 2.118 20.200 0.980 N N -0.619 0.953 -0.596 1.052 1.000 0.652 0.551 0.641 0.555 . 4.460 4.460 0.589 0.189 -0.153 0.000 0.005 0.018 310 . . . . SLC5A2 338 0 304 33 0.0979228486646884 TRUE TRUE ENSG00000103034.14 . BCM GRCh38.p13 chr16 58507830 58507830 + C C T Missense_Mutation SNP ENST00000570248.5 exon9 c.C643T p.R215W exonic ENSG00000103034.14 . nonsynonymous SNV ENSG00000103034.14:ENST00000570248.5:exon9:c.C643T:p.R215W 16q21 C3N-03173 1.662e-05 0 0 0 0 3.03e-05 0 0 rs753085219 15.20 D D D D D D M T D 0.835 T T D 0.480 . 0.796 0.317 T T D D D D 3.995 26.900 0.999 D D 0.526 5.241 0.426 4.545 1.000 0.707 0.588 0.644 0.714 . 5.590 2.360 1.738 0.096 0.599 1.000 0.997 0.964 895 . . . . NDRG4 207 0 234 19 0.075098814229249 TRUE NA ENSG00000129993.15 . BCM GRCh38.p13 chr16 88877025 88877025 + C C T Missense_Mutation SNP ENST00000268679.9 exon12 c.G1913A p.R638H exonic ENSG00000129993.15 . nonsynonymous SNV ENSG00000129993.15:ENST00000268679.9:exon12:c.G1913A:p.R638H 16q24.3 C3N-03173 . . . . . . . . rs562711336 4.20 D D B B U N L T N 0.106 T T D 0.057 0.208 0.522 1.189 T T T T T D 2.152 20.500 0.991 N N -0.492 1.192 -0.491 1.217 0.225 0.635 0.644 0.576 0.563 . 4.620 3.670 1.454 0.994 0.541 0.007 0.540 0.054 819 . . . . CBFA2T3 76 0 49 7 0.125 TRUE NA ENSG00000158805.12 . BCM GRCh38.p13 chr16 89723625 89723625 + G G T Missense_Mutation SNP ENST00000443381.7 exon4 c.G922T p.A308S exonic ENSG00000158805.12 . nonsynonymous SNV ENSG00000158805.12:ENST00000443381.7:exon4:c.G922T:p.A308S 16q24.3 C3N-03173 . . . . . . . . . 0.20 T T B B N N L T N 0.105 T T T 0.039 0.466 0.061 0.069 T T T T T T 0.821 9.599 0.937 N N -0.570 1.044 -0.618 1.019 1.000 0.677 0.686 0.673 0.628 . 5.660 3.690 0.880 1.146 0.676 0.001 0.035 0.012 698 . . . . ZNF276 298 0 251 33 0.116197183098592 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674220 7674220 + C C T Missense_Mutation SNP ENST00000269305.8 exon7 c.G743A p.R248Q exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.G743A:p.R248Q 17p13.1 C3N-03173 5.768e-05 0 0 0.0002 0 7.493e-05 0 0 rs11540652 19.20 D D D D D A M D D 0.946 D D D 0.934 . 0.975 0.412 T D D D D D 4.282 29.400 0.999 D D 0.660 6.591 0.561 5.765 0.799 0.722 0.702 0.725 0.735 . 4.620 3.650 6.163 1.021 0.596 1.000 0.981 0.841 433 p53,_DNA-binding_domain . . ID=COSV52661580;OCCURENCE=3(salivary_gland),148(breast),3(penis),1(peritoneum),13(liver),1(genital_tract),73(oesophagus),2(adrenal_gland),1(meninges),4(cervix),277(large_intestine),71(central_nervous_system),10(biliary_tract),3(pleura),11(vulva),57(ovary),8(bone),8(NS),70(stomach),116(haematopoietic_and_lymphoid_tissue),6(soft_tissue),8(kidney),57(urinary_tract),34(pancreas),1(pituitary),23(skin),46(prostate),53(lung),18(thyroid),74(upper_aerodigestive_tract),1(testis),1(eye),1(thymus),11(small_intestine),44(endometrium) TP53 374 0 314 29 0.0845481049562682 TRUE TRUE ENSG00000008838.20 . BCM GRCh38.p13 chr17 40035137 40035137 + A A T Missense_Mutation SNP ENST00000394128.7 exon6 c.T539A p.I180N exonic ENSG00000008838.20 . nonsynonymous SNV ENSG00000008838.20:ENST00000394128.7:exon6:c.T539A:p.I180N 17q21.1 C3N-03173 . . . . . . . . . 16.20 D D D D D D M T D 0.989 T T D 0.501 0.570 0.857 1.733 T D D D D D 4.132 28.000 0.943 D D 0.844 9.692 0.857 12.025 1.000 0.707 0.725 0.672 0.711 . 6.060 6.060 9.279 1.312 0.756 1.000 1.000 0.999 173 Mediator_complex,_subunit_Med24,_N-terminal . . . MED24 199 0 213 23 0.0974576271186441 TRUE TRUE ENSG00000131462.8 . BCM GRCh38.p13 chr17 42614323 42614323 + G G A Missense_Mutation SNP ENST00000251413.8 exon9 c.G907A p.V303M exonic ENSG00000131462.8 . nonsynonymous SNV ENSG00000131462.8:ENST00000251413.8:exon9:c.G907A:p.V303M 17q21.2 C3N-03173 . . . . . . . . . 10.20 T T B B D D N T N 0.556 T T D 0.434 0.467 0.935 1.597 D T D D D D 2.719 22.900 0.805 D D -0.449 1.280 -0.175 1.846 1.000 0.707 0.702 0.725 0.714 . 4.250 4.250 9.698 1.151 0.676 1.000 0.993 0.994 338 Tubulin/FtsZ,_2-layer_sandwich_domain . . . TUBG1 258 0 251 30 0.106761565836299 NA TRUE ENSG00000186185.14 . BCM GRCh38.p13 chr17 44935315 44935315 + G G A Missense_Mutation SNP ENST00000593135.6 exon3 c.C415T p.R139C exonic ENSG00000186185.14 . nonsynonymous SNV ENSG00000186185.14:ENST00000593135.6:exon3:c.C415T:p.R139C 17q21.31 C3N-03173 2.55e-05 0.0001 0 0 0 3.067e-05 0 0 rs781011969 6.18 . D P B N N M T . 0.699 T T D 0.470 0.685 0.743 0.973 T T T T D D 2.256 21.300 0.997 D N 0.069 2.765 0.025 2.446 0.435 0.707 0.702 0.702 0.714 . 5.500 4.530 1.580 1.176 0.676 0.109 0.715 0.372 739 Kinesin_motor_domain . . ID=COSV59271080;OCCURENCE=1(large_intestine),1(central_nervous_system),1(soft_tissue),2(prostate) KIF18B 134 0 134 16 0.106666666666667 TRUE TRUE ENSG00000187775.17 . BCM GRCh38.p13 chr17 78494756 78494756 + C C T Missense_Mutation SNP ENST00000389840.7 exon40 c.G6107A p.R2036K exonic ENSG00000187775.17 . nonsynonymous SNV ENSG00000187775.17:ENST00000389840.7:exon40:c.G6107A:p.R2036K 17q25.3 C3N-03173 . . . . . . . . . 7.12 . . . . . D . T . 0.756 T T D 0.243 . 0.181 . D . T T D D 3.775 25.700 0.998 D D 0.534 5.310 0.505 5.203 1.000 0.635 0.644 0.479 0.634 . 4.120 4.120 7.677 1.010 0.580 1.000 0.944 0.876 908 Dynein_heavy_chain,_hydrolytic_ATP-binding_dynein_motor_region_D1 . . . DNAH17 116 0 123 9 0.0681818181818182 TRUE TRUE ENSG00000101361.17 . BCM GRCh38.p13 chr20 2655670 2655670 + G G A Missense_Mutation SNP ENST00000329276.10 exon7 c.G833A p.R278H exonic ENSG00000101361.17 . nonsynonymous SNV ENSG00000101361.17:ENST00000329276.10:exon7:c.G833A:p.R278H 20p13 C3N-03173 2.471e-05 0 0 0 0 4.495e-05 0 0 rs747781902 18.20 D D D D D D H T D 0.953 D D D 0.842 0.791 0.867 0.821 T D D D D D 4.461 32 0.999 D D 1.107 17.814 0.978 17.571 1.000 0.722 0.672 0.696 0.735 . 4.900 4.900 9.366 1.176 0.676 1.000 1.000 0.999 764 Nop_domain . . ID=COSV61388773;OCCURENCE=1(upper_aerodigestive_tract) NOP56 288 1 265 23 0.0798611111111111 TRUE TRUE ENSG00000196839.13 . BCM GRCh38.p13 chr20 44629108 44629108 + C C G Missense_Mutation SNP ENST00000372874.9 exon3 c.G157C p.D53H exonic ENSG00000196839.13 . nonsynonymous SNV ENSG00000196839.13:ENST00000372874.9:exon3:c.G157C:p.D53H 20q13.12 C3N-03173 . . . . . . . . . 10.20 T T B B N D L D N 0.394 D D D 0.361 0.286 0.910 0.179 T D D D T D 1.913 18.590 0.918 D N -0.145 2.037 0.016 2.415 1.000 0.706 0.702 0.693 0.613 . 5.840 5.840 0.348 1.026 0.599 0.989 0.992 0.310 464 Adenosine/AMP_deaminase_domain . . ID=COSV100866645;OCCURENCE=1(skin) ADA 426 1 415 37 0.081858407079646 TRUE TRUE ENSG00000130940.15 . BCM GRCh38.p13 chr1 10639380 10639380 + G G T Silent SNP ENST00000377022.8 exon21 c.C4842A p.I1614I exonic ENSG00000130940.15 . synonymous SNV ENSG00000130940.15:ENST00000377022.8:exon21:c.C4842A:p.I1614I 1p36.22 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASZ1 151 0 170 12 0.0659340659340659 TRUE TRUE ENSG00000135931.17 . BCM GRCh38.p13 chr2 231370037 231370037 + G G A Silent SNP ENST00000611582.4 exon23 c.G2346A p.A782A exonic ENSG00000135931.17 . synonymous SNV ENSG00000135931.17:ENST00000611582.4:exon23:c.G2346A:p.A782A 2q37.1 C3N-03173 . . . . . . . . rs771908313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV72187859;OCCURENCE=2(pancreas) ARMC9 105 0 98 7 0.0666666666666667 TRUE NA ENSG00000132321.17 . BCM GRCh38.p13 chr2 236368210 236368210 + G G A Silent SNP ENST00000409907.8 exon14 c.C1653T p.Y551Y exonic ENSG00000132321.17 . synonymous SNV ENSG00000132321.17:ENST00000409907.8:exon14:c.C1653T:p.Y551Y 2q37.2 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54508271;OCCURENCE=1(large_intestine) IQCA1 321 1 312 37 0.106017191977077 TRUE TRUE ENSG00000164082.15 . BCM GRCh38.p13 chr3 51712517 51712517 + C C T Silent SNP ENST00000395052.8 exon3 c.C495T p.Y165Y exonic ENSG00000164082.15 . synonymous SNV ENSG00000164082.15:ENST00000395052.8:exon3:c.C495T:p.Y165Y 3p21.2 C3N-03173 0.0004 0 8.639e-05 0.0008 0.0006 0.0004 0 0.0004 rs200050063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56585222;OCCURENCE=1(oesophagus),3(central_nervous_system) GRM2 151 0 109 15 0.120967741935484 TRUE TRUE ENSG00000165868.15 . BCM GRCh38.p13 chr10 116674820 116674820 + C C T Silent SNP ENST00000369209.7 exon12 c.G1989A p.S663S exonic ENSG00000165868.15 . synonymous SNV ENSG00000165868.15:ENST00000369209.7:exon12:c.G1989A:p.S663S 10q25.3 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65021664;OCCURENCE=1(large_intestine),2(endometrium) HSPA12A 180 0 129 10 0.0719424460431655 TRUE TRUE ENSG00000182022.18 . BCM GRCh38.p13 chr10 124012376 124012376 + G G A Silent SNP ENST00000435907.6 exon7 c.C1452T p.N484N exonic ENSG00000182022.18 . synonymous SNV ENSG00000182022.18:ENST00000435907.6:exon7:c.C1452T:p.N484N 10q26.13 C3N-03173 2.481e-05 0 0 0 0 1.503e-05 0 0.0001 rs767431529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHST15 111 0 109 10 0.0840336134453782 TRUE NA ENSG00000130037.5 . BCM GRCh38.p13 chr12 5045554 5045554 + C C T Silent SNP ENST00000252321.5 exon1 c.C1407T p.D469D exonic ENSG00000130037.5 . synonymous SNV ENSG00000130037.5:ENST00000252321.5:exon1:c.C1407T:p.D469D 12p13.32 C3N-03173 8.237e-06 0 0 0.0001 0 0 0 0 rs768740011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52907745;OCCURENCE=1(biliary_tract),1(pancreas),1(skin) KCNA5 430 0 445 40 0.0824742268041237 TRUE TRUE ENSG00000136044.12 . BCM GRCh38.p13 chr12 105174389 105174389 + A A G Silent SNP ENST00000258530.8 exon21 c.T1920C p.Y640Y exonic ENSG00000136044.12 . synonymous SNV ENSG00000136044.12:ENST00000258530.8:exon21:c.T1920C:p.Y640Y 12q23.3 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APPL2 137 0 142 8 0.0533333333333333 TRUE NA ENSG00000110931.19 . BCM GRCh38.p13 chr12 121244588 121244588 + G G A Silent SNP ENST00000404169.8 exon16 c.C1581T p.S527S exonic ENSG00000110931.19 . synonymous SNV ENSG00000110931.19:ENST00000404169.8:exon16:c.C1581T:p.S527S 12q24.31 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61216837;OCCURENCE=1(skin) CAMKK2 113 0 121 13 0.0970149253731343 TRUE TRUE ENSG00000102452.17 . BCM GRCh38.p13 chr13 101065457 101065457 + G G A Silent SNP ENST00000251127.11 exon40 c.C4551T p.Y1517Y exonic ENSG00000102452.17 . synonymous SNV ENSG00000102452.17:ENST00000251127.11:exon40:c.C4551T:p.Y1517Y 13q32.3 C3N-03173 1.647e-05 0 8.637e-05 0 0 0 0 6.056e-05 rs748173874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51929902;OCCURENCE=1(large_intestine),1(soft_tissue),1(endometrium) NALCN 200 0 213 24 0.10126582278481 TRUE TRUE ENSG00000150394.14 . BCM GRCh38.p13 chr16 61817622 61817622 + G G T Silent SNP ENST00000577390.6 exon7 c.C1134A p.V378V exonic ENSG00000150394.14 . synonymous SNV ENSG00000150394.14:ENST00000577390.6:exon7:c.C1134A:p.V378V 16q21 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH8 153 0 155 9 0.0548780487804878 TRUE TRUE ENSG00000103335.22 . BCM GRCh38.p13 chr16 88722906 88722906 + G G T Silent SNP ENST00000301015.14 exon34 c.C4599A p.T1533T exonic ENSG00000103335.22 . synonymous SNV ENSG00000103335.22:ENST00000301015.14:exon34:c.C4599A:p.T1533T 16q24.3 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIEZO1 331 1 365 22 0.0568475452196382 TRUE TRUE ENSG00000160602.14 . BCM GRCh38.p13 chr17 28737491 28737491 + C C T Silent SNP ENST00000268766.11 exon5 c.C804T p.D268D exonic ENSG00000160602.14 . synonymous SNV ENSG00000160602.14:ENST00000268766.11:exon5:c.C804T:p.D268D 17q11.2 C3N-03173 5.825e-05 0 0 0 0 0 0 0.0004 rs748341861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEK8 227 0 146 15 0.093167701863354 TRUE NA ENSG00000174586.11 . BCM GRCh38.p13 chr19 58357123 58357123 + G G A Silent SNP ENST00000311044.8 exon3 c.C513T p.F171F exonic ENSG00000174586.11 . synonymous SNV ENSG00000174586.11:ENST00000311044.8:exon3:c.C513T:p.F171F 19q13.43 C3N-03173 8.638e-06 0 0 0 0 1.576e-05 0 0 rs777005764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF497 352 0 338 23 0.0637119113573407 TRUE NA ENSG00000269855.2 . BCM GRCh38.p13 chr19 58396860 58396860 + C C A Silent SNP ENST00000601382.2 exon1 c.C771A p.P257P exonic ENSG00000269855.2 . synonymous SNV ENSG00000269855.2:ENST00000601382.2:exon1:c.C771A:p.P257P 19q13.43 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF225 409 0 445 36 0.0748440748440748 TRUE TRUE ENSG00000152061.23 . BCM GRCh38.p13 chr1 174547863 174547863 + G G A Intron SNP NA NA NA NA intronic ENSG00000152061.23 . . . 1q25.1 C3N-03173 0.0002 0 0.0034 0 0 0.0002 0 0.0001 rs541353580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RABGAP1L 128 0 140 10 0.0666666666666667 TRUE NA ENSG00000181215.15 . BCM GRCh38.p13 chr4 5989378 5989378 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000181215.15 ENST00000324058.9:c.-1029G>A . . 4p16.2 C3N-03173 . . . . . . . . . 0.9 . . . . . N . . . . T T T 0.004 . 0.061 0.026 . . T T T T -1.276 0.002 0.399 N . -1.824 0.021 -2.090 0.009 1.000 0.497 0.590 0.547 0.613 . 3.890 -7.780 -3.003 -1.105 -1.910 0.000 0.000 0.000 988 . . . . C4orf50 189 0 138 10 0.0675675675675676 TRUE TRUE ENSG00000236529.2 . BCM GRCh38.p13 chr7 65840538 65840538 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000236529.2 . . . 7q11.21 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC093582.1 191 0 156 9 0.0545454545454545 TRUE NA ENSG00000272634.2 . BCM GRCh38.p13 chr11 4709992 4709992 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000272634.2 . . . 11p15.4 C3N-03173 0.0011 0 0 0 0 0 0 0.0021 rs778082350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR51F5P 245 1 195 22 0.101382488479263 TRUE NA ENSG00000188986.8 . BCM GRCh38.p13 chr9 137255985 137255987 + TTC TTC GTA Unknown MNP ENST00000343053.5 exon2 c.325_327delinsGTA p.F109V exonic ENSG00000188986.8 . nonframeshift substitution ENSG00000188986.8:ENST00000343053.5:exon2:c.325_327delinsGTA:p.F109V 9q34.3 C3N-03173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NELFB 226 10 192 10 0.0495049504950495 TRUE NA ENSG00000130764.10 . BCM GRCh38.p13 chr1 3786876 3786876 + A A T Missense_Mutation SNP ENST00000378251.3 exon2 c.T1050A p.N350K exonic ENSG00000130764.10 . nonsynonymous SNV ENSG00000130764.10:ENST00000378251.3:exon2:c.T1050A:p.N350K 1p36.32 C3L-04475 . . . . . . . . . 8.20 D D P P D D L T D 0.648 T T D 0.240 0.719 0.425 0.980 T T T T D D 1.444 15.370 0.982 N N -0.859 0.574 -1.085 0.391 0.996 0.707 0.702 0.702 0.714 . 5.220 -6.200 -0.290 -0.137 -0.210 0.079 0.012 0.161 946 B3/B4_tRNA-binding_domain . . . LRRC47 158 0 207 32 0.133891213389121 TRUE TRUE ENSG00000169174.11 . BCM GRCh38.p13 chr1 55056101 55056101 + G G A Missense_Mutation SNP ENST00000302118.5 exon6 c.G908A p.R303H exonic ENSG00000169174.11 . nonsynonymous SNV ENSG00000169174.11:ENST00000302118.5:exon6:c.G908A:p.R303H 1p32.3 C3L-04475 . . . . . . . . . 2.20 T T B B N N M D N 0.076 T T T 0.173 0.649 0.448 0.281 T T T T T T 0.873 10.150 0.978 N N -1.232 0.205 -1.334 0.188 1.000 0.696 0.590 0.723 0.613 . 3.880 -6.580 -0.085 -0.488 -0.106 0.000 0.056 0.955 872 Peptidase_S8/S53_domain;Proteinase_K-like_catalytic_domain . . ID=COSV100135399;OCCURENCE=1(endometrium) PCSK9 58 0 118 21 0.151079136690647 TRUE TRUE ENSG00000031698.13 . BCM GRCh38.p13 chr1 109236400 109236400 + A A G Missense_Mutation SNP ENST00000234677.7 exon9 c.A1109G p.N370S exonic ENSG00000031698.13 . nonsynonymous SNV ENSG00000031698.13:ENST00000234677.7:exon9:c.A1109G:p.N370S 1p13.3 C3L-04475 . . . . . . . . . 15.20 D D D D D D M T D 0.659 T T D 0.482 0.720 0.804 2.237 D D T T D D 4.100 27.800 0.999 D D 0.830 9.397 0.845 11.576 1.000 0.707 0.725 0.725 0.714 . 6.080 6.080 9.014 1.298 0.754 1.000 1.000 0.998 718 Aminoacyl-tRNA_synthetase,_class_II;Aminoacyl-tRNA_synthetase,_class_II_(G/_P/_S/T);Serine-tRNA_ligase_catalytic_core_domain . . . SARS1 92 0 138 14 0.0921052631578947 TRUE NA ENSG00000163354.15 . BCM GRCh38.p13 chr1 155030167 155030167 + C C T Missense_Mutation SNP ENST00000368424.4 exon7 c.G1094A p.R365H exonic ENSG00000163354.15 . nonsynonymous SNV ENSG00000163354.15:ENST00000368424.4:exon7:c.G1094A:p.R365H 1q21.3 C3L-04475 2.475e-05 0 8.643e-05 0.0001 0 0 0 6.057e-05 rs200847364 0.20 T T B B N N N T N 0.152 T T T 0.083 . 0.277 0.091 T T T T T T 0.187 2.973 0.925 N N -1.588 0.058 -1.626 0.068 0.892 0.516 0.610 0.576 0.613 . 4.830 -7.510 -2.672 -0.667 -0.202 0.000 0.803 0.664 258 Dendritic_cell-specific_transmembrane_protein-like . . ID=COSV55051586;OCCURENCE=2(thyroid),1(endometrium) DCST2 454 0 506 63 0.110720562390158 TRUE TRUE ENSG00000018699.13 . BCM GRCh38.p13 chr2 32758430 32758430 + C C T Missense_Mutation SNP ENST00000317907.9 exon13 c.C1591T p.R531C exonic ENSG00000018699.13 . nonsynonymous SNV ENSG00000018699.13:ENST00000317907.9:exon13:c.C1591T:p.R531C 2p22.3 C3L-04475 1.647e-05 0 0 0 0 1.498e-05 0 6.056e-05 rs751228170 17.20 D D D D D D M T D 0.875 D T D 0.508 0.574 0.895 0.323 T D D D D D 4.269 29.300 0.999 D D 0.880 10.545 0.835 11.254 1.000 0.719 0.725 0.725 0.734 . 5.860 5.860 6.036 1.026 0.599 1.000 0.943 0.880 168 Tetratricopeptide_repeat-containing_domain . . . TTC27 554 0 676 56 0.0765027322404372 TRUE NA ENSG00000135632.12 . BCM GRCh38.p13 chr2 73218918 73218918 + C C T Missense_Mutation SNP ENST00000389501.9 exon2 c.C154T p.R52W exonic ENSG00000135632.12 . nonsynonymous SNV ENSG00000135632.12:ENST00000389501.9:exon2:c.C154T:p.R52W 2p13.2 C3L-04475 4.97e-05 0 0 0.0002 0 5.996e-05 0 0 rs373347931 12.20 D D D D N N L D D 0.654 T D D 0.377 . 0.930 1.080 T T T T D D 3.882 26.200 0.999 D D 0.464 4.771 0.419 4.496 1.000 0.706 0.710 0.710 0.714 . 5.470 3.470 1.522 0.074 0.599 1.000 0.982 0.989 607 SET_domain . . ID=COSV50264550;OCCURENCE=3(large_intestine),2(stomach) SMYD5 277 0 380 41 0.0973871733966746 TRUE TRUE ENSG00000204640.1 . BCM GRCh38.p13 chr2 100470502 100470502 + G G A Missense_Mutation SNP ENST00000376865.1 exon1 c.G14A p.R5H exonic ENSG00000204640.1 . nonsynonymous SNV ENSG00000204640.1:ENST00000376865.1:exon1:c.G14A:p.R5H 2q11.2 C3L-04475 1.647e-05 0 8.637e-05 0.0001 0 0 0 0 rs183314287 1.20 D T B B N N N T N 0.046 T T T 0.021 . 0.088 0.055 T T T T T T -0.324 0.277 0.416 N N -1.541 0.069 -1.535 0.095 0.000 0.447 0.547 0.547 0.530 . 4.330 -2.070 -0.436 -0.146 -0.797 0.000 0.001 0.002 618 . . . ID=COSV65259014;OCCURENCE=1(skin) NMS 251 0 341 31 0.0833333333333333 TRUE TRUE ENSG00000169629.12 . BCM GRCh38.p13 chr2 112399712 112399712 + C C A Missense_Mutation SNP ENST00000302558.8 exon14 c.G1975T p.A659S exonic ENSG00000169629.12 . nonsynonymous SNV ENSG00000169629.12:ENST00000302558.8:exon14:c.G1975T:p.A659S 2q14.1 C3L-04475 . . . . . . . . . 2.19 T T P P . N M T N 0.201 T T T 0.072 0.377 0.654 . T T T T T T 1.862 18.190 0.957 D N -0.162 1.985 -0.204 1.775 0.000 0.693 0.659 0.653 0.668 . 2.350 2.350 4.041 0.906 0.284 1.000 0.991 0.707 917 . . . . RGPD8 385 1 349 47 0.118686868686869 NA TRUE ENSG00000178149.17 . BCM GRCh38.p13 chr3 49018545 49018545 + C C A Missense_Mutation SNP ENST00000341949.9 exon1 c.G20T p.G7V exonic ENSG00000178149.17 . nonsynonymous SNV ENSG00000178149.17:ENST00000341949.9:exon1:c.G20T:p.G7V 3p21.31 C3L-04475 . . . . . . . . . 10.20 D D D D D D M T D 0.646 T T D 0.331 0.505 0.765 2.241 T T T T D T 3.158 23.800 0.995 N N 0.284 3.696 0.152 2.958 1.000 0.468 0.504 0.474 0.373 . 4.580 4.580 1.764 0.936 0.587 0.153 0.095 0.074 0 . . . . DALRD3 166 0 198 27 0.12 TRUE TRUE ENSG00000013293.6 . BCM GRCh38.p13 chr3 170486314 170486314 + C C T Missense_Mutation SNP ENST00000231706.6 exon5 c.G814A p.A272T exonic ENSG00000013293.6 . nonsynonymous SNV ENSG00000013293.6:ENST00000231706.6:exon5:c.G814A:p.A272T 3q26.2 C3L-04475 8.238e-06 0 0 0 0 1.499e-05 0 0 rs774948709 20.20 D D D D D D M D D 0.952 D D D 0.761 . 0.784 0.615 D D D D D D 3.801 25.800 0.999 D D 0.725 7.476 0.705 7.847 1.000 0.554 0.590 0.547 0.568 . 5.950 5.080 7.510 0.966 0.530 1.000 0.996 0.938 828 . . . ID=COSV99200507;OCCURENCE=1(endometrium) SLC7A14 210 1 351 30 0.078740157480315 TRUE NA ENSG00000186038.9 . BCM GRCh38.p13 chr3 184105769 184105769 + C C G Missense_Mutation SNP ENST00000415389.6 exon7 c.C725G p.A242G exonic ENSG00000186038.9 . nonsynonymous SNV ENSG00000186038.9:ENST00000415389.6:exon7:c.C725G:p.A242G 3q27.1 C3L-04475 . . . . . . . . . 9.20 D T D D U N M T D 0.434 T D T 0.388 0.429 0.918 0.136 T T T T D T 3.469 24.600 0.997 D D 0.554 5.489 0.477 4.956 0.807 0.487 0.547 0.573 0.564 . 3.670 3.670 3.684 0.874 0.526 1.000 0.996 0.986 671 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . HTR3E 223 1 285 47 0.141566265060241 TRUE TRUE ENSG00000145241.11 . BCM GRCh38.p13 chr4 67508859 67508859 + C C T Missense_Mutation SNP ENST00000273853.11 exon10 c.G1859A p.S620N exonic ENSG00000145241.11 . nonsynonymous SNV ENSG00000145241.11:ENST00000273853.11:exon10:c.G1859A:p.S620N 4q13.2 C3L-04475 . . . . . . . . . 0.19 T T B B N N L . N 0.021 T T T 0.010 0.164 0.356 0.040 T T T T T T -0.886 0.015 0.337 N N -1.276 0.178 -1.348 0.179 0.034 0.707 0.725 0.651 0.714 . 5.100 -3.270 -1.025 -1.497 -0.208 0.000 0.001 0.019 889 . . . . CENPC 193 0 200 28 0.12280701754386 NA TRUE ENSG00000081051.8 . BCM GRCh38.p13 chr4 73442363 73442363 + C C - Frame_Shift_Del DEL ENST00000395792.7 exon5 c.550delC p.R184Afs*5 exonic ENSG00000081051.8 . frameshift deletion ENSG00000081051.8:ENST00000395792.7:exon5:c.550delC:p.R184Afs*5 4q13.3 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AFP 269 0 303 41 0.119186046511628 TRUE TRUE ENSG00000164588.8 . BCM GRCh38.p13 chr5 45696086 45696086 + C C A Missense_Mutation SNP ENST00000303230.6 exon1 c.G8T p.G3V exonic ENSG00000164588.8 . nonsynonymous SNV ENSG00000164588.8:ENST00000303230.6:exon1:c.G8T:p.G3V 5p12 C3L-04475 . . . . . . . . . 7.20 D D B B N D N D N 0.214 D D D 0.280 0.189 0.513 3.010 T T T T T T 2.054 19.660 0.991 N N -0.957 0.451 -0.970 0.528 0.662 0.658 0.574 0.619 0.563 . 3.170 1.240 0.145 -0.376 -0.302 0.019 0.855 0.002 486 . . . . HCN1 106 0 190 23 0.107981220657277 TRUE TRUE ENSG00000197208.6 . BCM GRCh38.p13 chr5 132313636 132313636 + T T C Missense_Mutation SNP ENST00000200652.4 exon3 c.T520C p.F174L exonic ENSG00000197208.6 . nonsynonymous SNV ENSG00000197208.6:ENST00000200652.4:exon3:c.T520C:p.F174L 5q31.1 C3L-04475 . . . . . . . . . 11.20 D T P P D D L T D 0.813 T T D 0.640 0.493 0.852 0.380 T T D D D D 3.995 26.900 0.999 D D 0.455 4.708 0.493 5.097 1.000 0.615 0.590 0.547 0.655 . 5.650 5.650 7.674 1.109 0.665 1.000 0.988 0.939 311 Major_facilitator_superfamily_domain;Sugar_transporter,_conserved_site . . . SLC22A4 497 0 550 64 0.104234527687296 TRUE TRUE ENSG00000145949.11 . BCM GRCh38.p13 chr6 2685360 2685360 + C C T Missense_Mutation SNP ENST00000274643.9 exon6 c.G481A p.A161T exonic ENSG00000145949.11 . nonsynonymous SNV ENSG00000145949.11:ENST00000274643.9:exon6:c.G481A:p.A161T 6p25.2 C3L-04475 1.647e-05 0 0 0.0002 0 0 0 0 rs780360412 2.20 T T P B N N N T N 0.307 T T T 0.079 0.451 0.421 0.161 T T T T T D 2.153 20.500 0.999 D N 0.217 3.379 0.341 3.963 1.000 0.554 0.574 0.618 0.568 . 5.630 5.630 5.043 1.010 0.580 1.000 0.036 0.069 854 Protein_kinase_domain . . . MYLK4 173 1 228 28 0.109375 TRUE NA ENSG00000164603.12 . BCM GRCh38.p13 chr7 112915324 112915324 + C C T Missense_Mutation SNP ENST00000297145.9 exon2 c.G284A p.R95H exonic ENSG00000164603.12 . nonsynonymous SNV ENSG00000164603.12:ENST00000297145.9:exon2:c.G284A:p.R95H 7q31.1 C3L-04475 8.3e-06 0.0001 0 0 0 0 0 0 rs376187358 16.17 D D D D D D . . D 0.903 D D D 0.874 . 0.556 2.079 . T D D D D 4.183 28.500 0.999 D D 0.886 10.697 0.854 11.925 1.000 0.651 0.709 0.609 0.636 . 5.510 5.510 7.477 1.008 0.549 1.000 1.000 0.998 863 . . . ID=COSV51776912;OCCURENCE=1(stomach),1(endometrium) BMT2 110 0 177 26 0.12807881773399 TRUE TRUE ENSG00000064419.13 . BCM GRCh38.p13 chr7 128972572 128972572 + G G A Missense_Mutation SNP ENST00000265388.9 exon19 c.C2284T p.R762C exonic ENSG00000064419.13 . nonsynonymous SNV ENSG00000064419.13:ENST00000265388.9:exon19:c.C2284T:p.R762C 7q32.1 C3L-04475 . . . . . . . . rs964315128 13.20 D T P B D D M T D 0.909 T T D 0.523 0.606 0.668 0.994 D T D D D D 3.458 24.600 0.997 D D 0.355 4.076 0.470 4.901 0.958 0.707 0.725 0.702 0.714 . 5.410 5.410 6.305 1.176 0.676 1.000 1.000 0.999 507 . . . . TNPO3 117 0 142 23 0.139393939393939 TRUE NA ENSG00000104722.14 . BCM GRCh38.p13 chr8 24914238 24914238 + G G A Missense_Mutation SNP ENST00000221166.10 exon1 c.G445A p.A149T exonic ENSG00000104722.14 . nonsynonymous SNV ENSG00000104722.14:ENST00000221166.10:exon1:c.G445A:p.A149T 8p21.2 C3L-04475 1.981e-05 0 0 0.0003 0 0 0 0 rs531889441 11.20 D T D P D D L D N 0.557 D D D 0.354 0.471 0.887 0.713 T T T T T D 3.111 23.700 0.999 D D 0.315 3.860 0.344 3.983 1.000 0.726 0.563 0.594 0.555 . 4.760 4.760 5.070 1.176 0.616 1.000 1.000 0.995 884 Intermediate_filament,_rod_domain . . ID=COSV55332080;OCCURENCE=1(large_intestine) NEFM 550 0 627 86 0.120617110799439 TRUE TRUE ENSG00000091656.19 . BCM GRCh38.p13 chr8 76705289 76705289 + A A G Missense_Mutation SNP ENST00000651372.2 exon2 c.A1201G p.M401V exonic ENSG00000091656.19 . nonsynonymous SNV ENSG00000091656.19:ENST00000651372.2:exon2:c.A1201G:p.M401V 8q21.13 C3L-04475 . . . . . . . . . 5.17 D T . . U D N T N 0.661 T T T 0.157 0.189 0.103 0.177 T . D T T T 2.728 22.900 0.944 D D 0.369 4.159 0.451 4.741 1.000 0.638 0.588 0.602 0.668 . 5.380 5.380 4.886 1.312 0.756 1.000 1.000 0.999 853 . . . . ZFHX4 184 0 236 34 0.125925925925926 TRUE TRUE ENSG00000107282.8 . BCM GRCh38.p13 chr9 69452189 69452189 + A A T Missense_Mutation SNP ENST00000265381.7 exon9 c.T1901A p.L634Q exonic ENSG00000107282.8 . nonsynonymous SNV ENSG00000107282.8:ENST00000265381.7:exon9:c.T1901A:p.L634Q 9q21.12 C3L-04475 . . . . . . . . . 14.20 D D D D D D M T D 0.805 T T T 0.365 0.516 0.593 1.572 D D T T D D 4.179 28.500 0.994 D D 0.666 6.670 0.688 7.529 1.000 0.554 0.563 0.670 0.568 . 5.540 5.540 7.409 1.312 0.756 1.000 1.000 0.999 988 PTB/PI_domain . . . APBA1 174 0 199 34 0.145922746781116 TRUE TRUE ENSG00000136866.13 . BCM GRCh38.p13 chr9 113042978 113042978 + C C T Missense_Mutation SNP ENST00000374227.7 exon4 c.G1640A p.C547Y exonic ENSG00000136866.13 . nonsynonymous SNV ENSG00000136866.13:ENST00000374227.7:exon4:c.G1640A:p.C547Y 9q32 C3L-04475 . . . . . . . . rs903618259 17.20 D D D D D D H D D 0.855 D D D 0.775 0.734 0.950 0.580 D T D D D T 3.904 26.400 0.997 N D 0.832 9.435 0.722 8.177 1.000 0.638 0.670 0.653 0.621 . 4.430 4.430 7.729 1.026 0.599 1.000 0.917 0.830 860 Zinc_finger_C2H2-type . . . ZFP37 135 0 140 14 0.0909090909090909 TRUE NA ENSG00000060339.14 . BCM GRCh38.p13 chr10 68753931 68753933 + ACA ACA - In_Frame_Del DEL ENST00000265872.11 exon11 c.1198_1200del p.T400del exonic ENSG00000060339.14 . nonframeshift deletion ENSG00000060339.14:ENST00000265872.11:exon11:c.1198_1200del:p.T400del 10q21.3 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCAR1 226 0 258 28 0.0979020979020979 TRUE TRUE ENSG00000138166.6 . BCM GRCh38.p13 chr10 110502792 110502792 + A A T Missense_Mutation SNP ENST00000369583.4 exon2 c.A451T p.I151F exonic ENSG00000138166.6 . nonsynonymous SNV ENSG00000138166.6:ENST00000369583.4:exon2:c.A451T:p.I151F 10q25.2 C3L-04475 . . . . . . . . . 1.20 T T B B N N L T N 0.119 T T T 0.049 0.310 0.354 0.245 T T T T T T 1.456 15.450 0.904 D N -0.652 0.895 -0.548 1.126 1.000 0.731 0.750 0.644 0.592 . 6.020 0.661 1.516 0.314 0.756 0.666 0.931 0.965 912 . . . . DUSP5 230 0 245 38 0.134275618374558 TRUE TRUE ENSG00000187079.19 . BCM GRCh38.p13 chr11 12864878 12864878 + G G C Missense_Mutation SNP ENST00000527636.6 exon5 c.G308C p.R103P exonic ENSG00000187079.19 . nonsynonymous SNV ENSG00000187079.19:ENST00000527636.6:exon5:c.G308C:p.R103P 11p15.3 C3L-04475 . . . . . . . . . 17.20 D D D D D D M T D 0.753 T T D 0.609 0.575 0.682 . D D D D D D 4.405 31 0.997 D D 1.017 14.463 0.988 18.144 1.000 0.731 0.596 0.504 0.649 . 5.930 5.930 10.003 1.176 0.618 1.000 1.000 0.999 749 TEA/ATTS_domain . . . TEAD1 556 1 508 68 0.118055555555556 TRUE TRUE ENSG00000154096.14 . BCM GRCh38.p13 chr11 119419443 119419443 + A A G Missense_Mutation SNP ENST00000284240.10 exon4 c.T451C p.S151P exonic ENSG00000154096.14 . nonsynonymous SNV ENSG00000154096.14:ENST00000284240.10:exon4:c.T451C:p.S151P 11q23.3 C3L-04475 . . . . . . . . . 2.20 D T B B N N L T N 0.266 T T D 0.250 0.359 0.725 0.544 T T T T T T 2.283 21.500 0.967 N N -0.580 1.024 -0.345 1.474 1.000 0.722 0.634 0.699 0.542 . 4.850 3.860 4.152 0.094 0.756 1.000 0.988 0.987 817 . . . . THY1 402 0 550 77 0.12280701754386 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3L-04475 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 339 0 402 43 0.0966292134831461 TRUE TRUE ENSG00000183495.14 . BCM GRCh38.p13 chr12 132027442 132027442 + G G A Missense_Mutation SNP ENST00000389561.7 exon26 c.G5020A p.V1674I exonic ENSG00000183495.14 . nonsynonymous SNV ENSG00000183495.14:ENST00000389561.7:exon26:c.G5020A:p.V1674I 12q24.33 C3L-04475 0.0006 9.724e-05 0.0012 0 0 0.0008 0.0056 0.0002 rs146849627 2.18 T T B B N N . D N 0.148 T T T 0.174 . 0.377 0.363 T . T T T T 1.582 16.260 0.961 D N -0.373 1.442 -0.184 1.825 0.343 0.672 0.577 0.702 0.636 . 5.670 4.780 2.107 1.176 0.676 1.000 0.941 0.679 970 . . . ID=COSV57773650;OCCURENCE=2(large_intestine) EP400 283 0 394 24 0.0574162679425837 TRUE TRUE ENSG00000102452.17 . BCM GRCh38.p13 chr13 101283953 101283953 + G G A Missense_Mutation SNP ENST00000251127.11 exon10 c.C1114T p.R372C exonic ENSG00000102452.17 . nonsynonymous SNV ENSG00000102452.17:ENST00000251127.11:exon10:c.C1114T:p.R372C 13q33.1 C3L-04475 8.317e-06 0 8.754e-05 0 0 0 0 0 rs549926959 13.20 T T D P D D N D N 0.845 D D D 0.736 0.555 0.646 2.121 T T D D D D 3.736 25.600 0.999 D D 0.416 4.441 0.481 4.988 1.000 0.615 0.574 0.574 0.655 . 5.450 4.520 4.633 1.157 0.595 1.000 1.000 0.999 826 . . . ID=COSV51930613;OCCURENCE=2(large_intestine),1(stomach),2(haematopoietic_and_lymphoid_tissue) NALCN 221 0 338 28 0.0765027322404372 TRUE TRUE ENSG00000036530.9 . BCM GRCh38.p13 chr14 99706765 99706765 + G G A Missense_Mutation SNP ENST00000261835.8 exon6 c.G562A p.A188T exonic ENSG00000036530.9 . nonsynonymous SNV ENSG00000036530.9:ENST00000261835.8:exon6:c.G562A:p.A188T 14q32.2 C3L-04475 1.652e-05 9.643e-05 0 0 0 1.503e-05 0 0 rs148568536 0.20 T T B B N N N T N 0.283 T T T 0.229 . 0.159 0.836 T T T T T T 0.802 9.415 0.393 N N -0.577 1.029 -0.499 1.203 0.012 0.578 0.574 0.608 0.542 . 4.170 -0.025 0.030 -0.084 -0.116 0.915 0.993 0.990 941 . . . . CYP46A1 115 0 180 21 0.104477611940299 TRUE NA ENSG00000058335.15 . BCM GRCh38.p13 chr15 79004051 79004051 + A A G Missense_Mutation SNP ENST00000419573.7 exon16 c.T2248C p.S750P exonic ENSG00000058335.15 . nonsynonymous SNV ENSG00000058335.15:ENST00000419573.7:exon16:c.T2248C:p.S750P 15q25.1 C3L-04475 . . . . . . . . . 11.20 D D D D D D L T N 0.833 T T D 0.321 0.362 0.416 1.344 T T D T D T 2.272 21.400 0.993 D D 0.342 4.004 0.201 3.190 1.000 0.493 0.587 0.602 0.613 . 4.350 4.350 9.129 1.278 0.691 1.000 0.070 0.027 789 Ras-like_guanine_nucleotide_exchange_factor,_N-terminal . . . RASGRF1 236 1 306 29 0.0865671641791045 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674196 7674196 + G G A Missense_Mutation SNP ENST00000269305.8 exon7 c.C767T p.T256I exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.C767T:p.T256I 17p13.1 C3L-04475 . . . . . . . . . 19.20 D D D D D D M D D 0.969 D D D 0.932 0.949 0.995 0.400 T D D D D D 3.828 26.000 0.998 D D 0.669 6.710 0.550 5.647 0.799 0.722 0.702 0.725 0.735 . 4.620 3.650 10.003 1.174 0.676 1.000 0.986 0.683 432 p53,_DNA-binding_domain . . ID=COSV52987484;OCCURENCE=1(oesophagus),2(large_intestine),1(stomach),1(prostate),1(upper_aerodigestive_tract) TP53 329 1 345 62 0.152334152334152 TRUE TRUE ENSG00000105397.14 . BCM GRCh38.p13 chr19 10354558 10354558 + G G A Missense_Mutation SNP ENST00000525621.6 exon19 c.C2669T p.T890M exonic ENSG00000105397.14 . nonsynonymous SNV ENSG00000105397.14:ENST00000525621.6:exon19:c.C2669T:p.T890M 19p13.2 C3L-04475 . . . . . . . . . 17.20 D D D D D D M D D 0.552 D D D 0.509 0.394 0.815 0.927 T T D D D D 3.588 25.000 0.998 D N 0.035 2.637 -0.021 2.289 0.961 0.726 0.725 0.594 0.714 . 5.450 3.230 2.966 1.176 0.676 0.998 0.635 0.625 774 . . . ID=COSV53384829;OCCURENCE=1(large_intestine),1(skin),1(lung) TYK2 347 0 477 49 0.0931558935361217 TRUE TRUE ENSG00000105143.12 . BCM GRCh38.p13 chr19 14952977 14952977 + C C T Missense_Mutation SNP ENST00000221742.7 exon8 c.G1450A p.G484S exonic ENSG00000105143.12 . nonsynonymous SNV ENSG00000105143.12:ENST00000221742.7:exon8:c.G1450A:p.G484S 19p13.12 C3L-04475 8.24e-06 0 0 0 0 1.499e-05 0 0 rs770765624 18.20 D D D D D D M T D 0.647 D T D 0.628 0.805 0.762 2.370 D D D D D D 4.074 27.500 0.999 D D 0.757 7.994 0.679 7.379 1.000 0.615 0.574 0.659 0.564 . 4.410 4.410 6.027 0.962 0.510 1.000 0.878 0.960 976 . . . ID=COSV55669575;OCCURENCE=1(large_intestine) SLC1A6 165 0 241 21 0.0801526717557252 TRUE TRUE ENSG00000173480.11 . BCM GRCh38.p13 chr19 57909495 57909495 + A A T Missense_Mutation SNP ENST00000312026.6 exon3 c.T783A p.D261E exonic ENSG00000173480.11 . nonsynonymous SNV ENSG00000173480.11:ENST00000312026.6:exon3:c.T783A:p.D261E 19q13.43 C3L-04475 . . . . . . . . . 2.19 D D P B . N N T N 0.070 T T T 0.046 0.299 0.549 . T T T T T T 0.628 7.782 0.886 N N -1.000 0.404 -1.167 0.312 0.001 0.707 0.725 0.702 0.714 . 1.910 -1.700 -0.777 0.773 0.270 0.000 0.013 0.004 982 Zinc_finger_C2H2-type . . . ZNF417 265 1 264 32 0.108108108108108 NA TRUE ENSG00000101292.7 . BCM GRCh38.p13 chr20 5302231 5302231 + C C T Missense_Mutation SNP ENST00000217270.3 exon2 c.G964A p.A322T exonic ENSG00000101292.7 . nonsynonymous SNV ENSG00000101292.7:ENST00000217270.3:exon2:c.G964A:p.A322T 20p12.3 C3L-04475 4.942e-05 0 0 0 0 0 0.0011 0.0003 rs779869864 13.20 D D D D D D M T D 0.949 T T D 0.473 0.725 0.855 . T T T D D T 4.077 27.600 0.999 D D 0.853 9.899 0.801 10.141 1.000 0.638 0.574 0.653 0.542 . 5.050 5.050 7.426 0.126 0.596 1.000 0.990 0.994 952 GPCR,_rhodopsin-like,_7TM . . ID=COSV54086366;OCCURENCE=4(large_intestine),1(skin),1(endometrium) PROKR2 586 0 728 93 0.113276492082826 TRUE TRUE ENSG00000197586.13 . BCM GRCh38.p13 chr20 25224139 25224139 + G G A Missense_Mutation SNP ENST00000376652.9 exon13 c.G1225A p.E409K exonic ENSG00000197586.13 . nonsynonymous SNV ENSG00000197586.13:ENST00000376652.9:exon13:c.G1225A:p.E409K 20p11.21 C3L-04475 . . . . . . . . rs780480288 6.20 T T D B N D L T N 0.677 T T T 0.100 0.642 0.205 0.703 T T T T D D 2.767 23.000 0.984 D D 0.218 3.385 0.289 3.652 1.000 0.722 0.702 0.644 0.735 . 5.220 5.220 4.728 1.176 0.676 1.000 0.858 0.941 649 . . . . ENTPD6 47 0 117 10 0.078740157480315 TRUE NA ENSG00000198185.11 . BCM GRCh38.p13 chr20 46504666 46504666 + C C G Missense_Mutation SNP ENST00000347606.8 exon3 c.G96C p.R32S exonic ENSG00000198185.11 . nonsynonymous SNV ENSG00000198185.11:ENST00000347606.8:exon3:c.G96C:p.R32S 20q13.12 C3L-04475 . . . . . . . . . 5.19 D D P B . N H T D 0.469 T T T 0.099 0.666 0.233 0.074 T T T T D T 0.945 10.940 0.957 N N -0.506 1.164 -0.711 0.884 0.000 0.707 0.670 0.725 0.564 . 3.020 -0.101 -1.043 -0.944 -0.242 0.000 0.888 0.991 948 Krueppel-associated_box . . . ZNF334 140 0 188 10 0.0505050505050505 TRUE NA ENSG00000130589.16 . BCM GRCh38.p13 chr20 63560317 63560317 + G G A Missense_Mutation SNP ENST00000467148.1 exon17 c.C7511T p.T2504I exonic ENSG00000130589.16 . nonsynonymous SNV ENSG00000130589.16:ENST00000467148.1:exon17:c.C7511T:p.T2504I 20q13.33 C3L-04475 . . . . . . . . . 2.20 T T B B N N N T N 0.285 T T D 0.155 0.408 0.388 0.213 T T T T T T 2.598 22.600 0.874 D N -0.719 0.782 -0.547 1.128 0.969 0.707 0.644 0.723 0.714 . 3.800 2.820 4.416 -0.168 -0.185 1.000 0.099 0.086 . . . . . HELZ2 69 0 105 9 0.0789473684210526 TRUE TRUE ENSG00000175329.13 . BCM GRCh38.p13 chr22 35067193 35067193 + A A T Missense_Mutation SNP ENST00000404699.7 exon2 c.A106T p.I36F exonic ENSG00000175329.13 . nonsynonymous SNV ENSG00000175329.13:ENST00000404699.7:exon2:c.A106T:p.I36F 22q12.3 C3L-04475 . . . . . . . . . 16.20 D D D D D D M D N 0.459 D D D 0.505 0.283 0.902 0.064 T T D D D T 3.749 25.600 0.989 D D 0.517 5.167 0.509 5.241 1.000 0.487 0.547 0.574 0.564 . 5.130 5.130 4.457 1.298 0.740 1.000 0.827 0.945 962 . . . ID=COSV58088022;OCCURENCE=1(liver) ISX 573 1 724 99 0.120291616038882 NA TRUE ENSG00000187823.3 . BCM GRCh38.p13 chrX 112455624 112455624 + G G A Missense_Mutation SNP ENST00000340433.3 exon1 c.G896A p.R299Q exonic ENSG00000187823.3 . nonsynonymous SNV ENSG00000187823.3:ENST00000340433.3:exon1:c.G896A:p.R299Q Xq23 C3L-04475 4.781e-05 0 0 0.0002 0 6.486e-05 0 0 rs751946941 4.18 T T D D N N . T N 0.222 T T D 0.279 0.396 0.205 0.068 T T T T T T 2.218 21.000 0.983 D . . . . . 0.000 . . . . . 3.800 2.940 1.487 0.161 -0.105 1.000 0.324 0.259 821 . . . . RTL4 76 0 82 21 0.203883495145631 TRUE NA ENSG00000133065.11 . BCM GRCh38.p13 chr1 205798970 205798970 + G G C Silent SNP ENST00000367137.4 exon5 c.C684G p.A228A exonic ENSG00000133065.11 . synonymous SNV ENSG00000133065.11:ENST00000367137.4:exon5:c.C684G:p.A228A 1q32.1 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC41A1 436 1 584 75 0.113808801213961 TRUE TRUE ENSG00000143507.18 . BCM GRCh38.p13 chr1 221739568 221739568 + C C T Silent SNP ENST00000366899.4 exon2 c.G177A p.T59T exonic ENSG00000143507.18 . synonymous SNV ENSG00000143507.18:ENST00000366899.4:exon2:c.G177A:p.T59T 1q41 C3L-04475 1.647e-05 0 0 0 0 0 0 0.0001 rs754587624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60458562;OCCURENCE=1(large_intestine) DUSP10 221 0 280 38 0.119496855345912 TRUE TRUE ENSG00000174255.7 . BCM GRCh38.p13 chr3 114236805 114236805 + G G A Silent SNP ENST00000482457.4 exon1 c.C270T p.V90V exonic ENSG00000174255.7 . synonymous SNV ENSG00000174255.7:ENST00000482457.4:exon1:c.C270T:p.V90V 3q13.31 C3L-04475 2.49e-05 0.0002 0 0 0 1.509e-05 0 0 rs111785883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF80 234 0 335 47 0.12303664921466 TRUE NA ENSG00000144893.12 . BCM GRCh38.p13 chr3 151378018 151378018 + C C T Silent SNP ENST00000474524.5 exon29 c.C4218T p.S1406S exonic ENSG00000144893.12 . synonymous SNV ENSG00000144893.12:ENST00000474524.5:exon29:c.C4218T:p.S1406S 3q25.1 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56387292;OCCURENCE=1(skin),1(upper_aerodigestive_tract) MED12L 85 0 137 14 0.0927152317880795 TRUE TRUE ENSG00000132464.13 . BCM GRCh38.p13 chr4 70643973 70643973 + T T A Silent SNP ENST00000396073.4 exon9 c.T2547A p.P849P exonic ENSG00000132464.13 . synonymous SNV ENSG00000132464.13:ENST00000396073.4:exon9:c.T2547A:p.P849P 4q13.3 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENAM 537 0 603 77 0.113235294117647 TRUE TRUE ENSG00000155511.18 . BCM GRCh38.p13 chr5 153647040 153647040 + G G A Silent SNP ENST00000285900.10 exon3 c.G333A p.P111P exonic ENSG00000155511.18 . synonymous SNV ENSG00000155511.18:ENST00000285900.10:exon3:c.G333A:p.P111P 5q33.2 C3L-04475 8.241e-06 0 0 0 0 0 0 6.056e-05 rs750448884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53597890;OCCURENCE=1(stomach),1(skin),1(endometrium) GRIA1 516 0 691 81 0.104922279792746 TRUE TRUE ENSG00000211968.3 . BCM GRCh38.p13 chr14 106622497 106622497 + G G A Silent SNP ENST00000390628.3 exon2 c.C213T p.V71V exonic ENSG00000211968.3 . synonymous SNV ENSG00000211968.3:ENST00000390628.3:exon2:c.C213T:p.V71V 14q32.33 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHV1-58 675 1 843 91 0.0974304068522484 TRUE TRUE ENSG00000185823.5 . BCM GRCh38.p13 chr15 24676389 24676389 + C C T Silent SNP ENST00000329468.5 exon1 c.C522T p.D174D exonic ENSG00000185823.5 . synonymous SNV ENSG00000185823.5:ENST00000329468.5:exon1:c.C522T:p.D174D 15q11.2 C3L-04475 3.637e-05 9.956e-05 0 0 0 4.744e-05 0 0 rs368120585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61504571;OCCURENCE=1(large_intestine),1(central_nervous_system),1(ovary),1(stomach),1(prostate) NPAP1 50 0 55 7 0.112903225806452 TRUE TRUE ENSG00000182768.9 . BCM GRCh38.p13 chr15 90265754 90265754 + C C T Silent SNP ENST00000379095.5 exon1 c.C42T p.C14C exonic ENSG00000182768.9 . synonymous SNV ENSG00000182768.9:ENST00000379095.5:exon1:c.C42T:p.C14C 15q26.1 C3L-04475 2.614e-05 0 0 0 0 4.772e-05 0 0 rs748216905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NGRN 375 1 504 57 0.101604278074866 TRUE NA ENSG00000275832.5 . BCM GRCh38.p13 chr17 38467000 38467000 + G G T Silent SNP ENST00000622683.5 exon7 c.G1317T p.R439R exonic ENSG00000275832.5 . synonymous SNV ENSG00000275832.5:ENST00000622683.5:exon7:c.G1317T:p.R439R 17q12 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGAP23 498 2 621 61 0.0894428152492669 TRUE TRUE ENSG00000125851.10 . BCM GRCh38.p13 chr20 17453867 17453867 + C C T Silent SNP ENST00000262545.7 exon9 c.C1011T p.D337D exonic ENSG00000125851.10 . synonymous SNV ENSG00000125851.10:ENST00000262545.7:exon9:c.C1011T:p.D337D 20p12.1 C3L-04475 . . . . . . . . rs1020319388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCSK2 452 0 666 70 0.0951086956521739 TRUE NA ENSG00000175329.13 . BCM GRCh38.p13 chr22 35067192 35067192 + G G A Silent SNP ENST00000404699.7 exon2 c.G105A p.A35A exonic ENSG00000175329.13 . synonymous SNV ENSG00000175329.13:ENST00000404699.7:exon2:c.G105A:p.A35A 22q12.3 C3L-04475 2.841e-05 0.0001 0 0.0003 0 0 0 0 rs760200279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100434153;OCCURENCE=1(pancreas) ISX 505 0 617 85 0.121082621082621 TRUE NA ENSG00000175718.10 . BCM GRCh38.p13 chrX 115191715 115191715 + C C T Silent SNP ENST00000424776.5 exon1 c.C2274T p.D758D exonic ENSG00000175718.10 . synonymous SNV ENSG00000175718.10:ENST00000424776.5:exon1:c.C2274T:p.D758D Xq23 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57750383;OCCURENCE=1(large_intestine),1(biliary_tract) RBMXL3 164 1 188 60 0.241935483870968 TRUE TRUE ENSG00000253441.1 . BCM GRCh38.p13 chr14 106289100 106289100 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000253441.1 . . . 14q32.33 C3L-04475 . . . . . . . . rs925719527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHV3-25 40 0 46 8 0.148148148148148 TRUE NA ENSG00000140368.13 . BCM GRCh38.p13 chr15 76995496 76995496 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000140368.13 ENST00000558012.6:c.-78C>T . . 15q24.3 C3L-04475 2.362e-05 0.0002 0 0.0002 0 0 0 0 rs371644004 2.10 D D . . . N . T N . . . . . . 0.599 . . . T T . T 1.117 12.940 0.997 N N . . . . 1.000 0.403 0.299 0.578 0.563 . 4.120 3.160 0.004 1.000 0.599 0.019 0.356 0.711 294 . . . . PSTPIP1 84 0 161 22 0.120218579234973 TRUE NA ENSG00000252608.1 . BCM GRCh38.p13 chr16 81130579 81130579 + G G A IGR SNP NA NA NA NA intergenic ENSG00000252608.1;ENSG00000286759.1 dist=23940;dist=21241 . . 16q23.2 C3L-04475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNU6-1191P 233 0 351 26 0.0689655172413793 TRUE NA ENSG00000167037.18 . BCM GRCh38.p13 chr22 24855848 24855848 + C C T Intron SNP NA NA NA NA intronic ENSG00000167037.18 . . . 22q11.23 C3L-04475 0.0034 0.0411 0.0060 0 0 0 0 0.0002 rs114432790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68509518;OCCURENCE=1(pancreas) SGSM1 104 0 134 12 0.0821917808219178 TRUE NA ENSG00000125944.20 . BCM GRCh38.p13 chr1 23310932 23310932 + T T C Missense_Mutation SNP ENST00000302271.11 exon11 c.A1424G p.Y475C exonic ENSG00000125944.20 . nonsynonymous SNV ENSG00000125944.20:ENST00000302271.11:exon11:c.A1424G:p.Y475C 1p36.12 C3L-04853 8.242e-06 0 8.643e-05 0 0 0 0 0 rs763561835 16.19 D D D D D D M T D 0.783 T T D 0.419 . 0.607 0.746 D D D D D . 4.252 29.100 0.985 D D 0.847 9.778 0.818 10.680 1.000 0.719 0.725 0.723 0.711 . 5.720 5.720 7.970 1.138 0.665 1.000 1.000 0.999 322 . . . . HNRNPR 457 0 240 45 0.157894736842105 TRUE NA ENSG00000116260.17 . BCM GRCh38.p13 chr1 180196474 180196474 + G G T Missense_Mutation SNP ENST00000367602.8 exon12 c.G1681T p.A561S exonic ENSG00000116260.17 . nonsynonymous SNV ENSG00000116260.17:ENST00000367602.8:exon12:c.G1681T:p.A561S 1q25.2 C3L-04853 . . . . . . . . . 0.20 T T B B N N N T N 0.091 T T T 0.013 0.275 0.040 0.108 T T T T T T -0.574 0.083 0.230 N N -1.916 0.014 -2.017 0.012 1.000 0.707 0.725 0.725 0.714 . 4.540 -9.080 -2.427 -0.575 -0.159 0.000 0.000 0.001 790 . . . . QSOX1 190 1 122 7 0.0542635658914729 TRUE TRUE ENSG00000182263.14 . BCM GRCh38.p13 chr2 163611579 163611579 + G G A Nonsense_Mutation SNP ENST00000333129.4 exon3 c.C253T p.R85X exonic ENSG00000182263.14 . stopgain ENSG00000182263.14:ENST00000333129.4:exon3:c.C253T:p.R85X 2q24.3 C3L-04853 8.281e-06 0 8.639e-05 0 0 0 0 0 rs568198210 4.6 . . . . U D . . . 0.404 . . . . . . . . . D D . . 6.796 36 0.998 D N 0.866 10.208 0.758 8.985 0.999 0.744 0.616 0.630 0.700 . 6.170 5.250 3.033 1.176 0.676 1.000 0.966 0.812 860 . . . ID=COSV60764452;OCCURENCE=2(upper_aerodigestive_tract),1(endometrium) FIGN 317 3 222 27 0.108433734939759 TRUE TRUE ENSG00000114650.20 . BCM GRCh38.p13 chr3 47418758 47418758 + G G A Missense_Mutation SNP ENST00000265565.10 exon14 c.C2026T p.R676C exonic ENSG00000114650.20 . nonsynonymous SNV ENSG00000114650.20:ENST00000265565.10:exon14:c.C2026T:p.R676C 3p21.31 C3L-04853 3.418e-05 0 0 0 0 5.922e-05 0 0 rs767799241 9.20 D D D B N D N T D 0.462 T T D 0.189 0.225 0.765 0.430 T T T T D D 2.860 23.100 0.998 D N -0.204 1.866 -0.272 1.622 1.000 0.672 0.702 0.780 0.636 . 4.650 3.760 2.650 1.089 0.590 0.109 0.946 0.099 20 . . . . SCAP 149 0 78 8 0.0930232558139535 TRUE NA ENSG00000178804.7 . BCM GRCh38.p13 chr3 129550759 129550759 + T T A Missense_Mutation SNP ENST00000324382.6 exon4 c.T757A p.Y253N exonic ENSG00000178804.7 . nonsynonymous SNV ENSG00000178804.7:ENST00000324382.6:exon4:c.T757A:p.Y253N 3q22.1 C3L-04853 . . . . . . . . . 0.20 T T B B N N N T N 0.105 T T T 0.039 0.259 0.055 0.089 T T T T T T -0.222 0.459 0.649 N N -1.530 0.072 -1.540 0.094 1.000 0.497 0.590 0.547 0.646 . 3.530 -0.494 -0.551 -0.852 -1.843 0.000 0.001 0.001 514 . . . . H1-8 259 0 147 15 0.0925925925925926 TRUE TRUE ENSG00000145113.22 . BCM GRCh38.p13 chr3 195765303 195765303 + G G A Nonsense_Mutation SNP ENST00000463781.8 exon9 c.C13765T p.R4589X exonic ENSG00000145113.22 . stopgain ENSG00000145113.22:ENST00000463781.8:exon9:c.C13765T:p.R4589X 3q29 C3L-04853 3.403e-05 0.0001 8.743e-05 0 0 1.548e-05 0 6.266e-05 rs771701130 3.6 . . . . N A . . . 0.874 . . . . . . . . . D D . . 8.019 40 0.981 N N -0.098 2.182 -0.418 1.339 0.000 0.554 0.588 0.604 0.613 . 4.250 -0.041 -1.034 0.230 -0.190 0.000 0.714 0.971 830 AMOP_domain . . ID=COSV57801324;OCCURENCE=1(stomach),1(endometrium) MUC4 252 0 153 11 0.0670731707317073 TRUE TRUE ENSG00000078295.17 . BCM GRCh38.p13 chr5 7709296 7709296 + G G A Missense_Mutation SNP ENST00000338316.9 exon10 c.G1487A p.R496Q exonic ENSG00000078295.17 . nonsynonymous SNV ENSG00000078295.17:ENST00000338316.9:exon10:c.G1487A:p.R496Q 5p15.31 C3L-04853 1.656e-05 0 0 0 0 1.504e-05 0 6.104e-05 rs576240306 11.20 T T B B D D M T N 0.501 T T T 0.506 0.516 0.882 0.973 D D D D D D 2.900 23.200 0.999 D D 0.259 3.573 0.407 4.407 1.000 0.672 0.574 0.702 0.564 . 5.620 5.620 6.493 1.176 0.674 1.000 1.000 0.998 917 Adenylate_cyclase,_conserved_domain . . ID=COSV57864504;OCCURENCE=1(cervix),2(large_intestine),1(pancreas) ADCY2 326 0 182 19 0.0945273631840796 TRUE TRUE ENSG00000112902.12 . BCM GRCh38.p13 chr5 9054173 9054173 + C C T Missense_Mutation SNP ENST00000382496.10 exon19 c.G2603A p.C868Y exonic ENSG00000112902.12 . nonsynonymous SNV ENSG00000112902.12:ENST00000382496.10:exon19:c.G2603A:p.C868Y 5p15.31 C3L-04853 . . . . . . . . . 17.20 D D D D D D H T D 0.989 D D D 0.728 0.779 0.933 1.418 T T D D D D 3.915 26.400 0.997 D D 1.023 14.658 0.885 13.126 1.000 0.706 0.588 0.710 0.613 . 5.590 5.590 7.521 1.026 0.599 1.000 0.013 0.762 833 . . . ID=COSV66807066;OCCURENCE=1(liver) SEMA5A 331 0 227 15 0.0619834710743802 TRUE TRUE ENSG00000145734.19 . BCM GRCh38.p13 chr5 71562397 71562397 + G G T Missense_Mutation SNP ENST00000358731.9 exon38 c.G7620T p.K2540N exonic ENSG00000145734.19 . nonsynonymous SNV ENSG00000145734.19:ENST00000358731.9:exon38:c.G7620T:p.K2540N 5q13.2 C3L-04853 . . . . . . . . . 1.20 D T B B N N N T N 0.112 T T T 0.059 0.273 0.130 0.045 T T T T T T 1.718 17.150 0.992 N N -0.741 0.745 -0.668 0.946 0.002 0.732 0.709 0.651 0.728 . 5.870 0.596 0.454 -0.101 0.676 0.297 0.197 0.609 422 . . . . BDP1 212 0 88 5 0.0537634408602151 TRUE TRUE ENSG00000183775.11 . BCM GRCh38.p13 chr5 144474029 144474029 + A A G Missense_Mutation SNP ENST00000512467.6 exon4 c.A1202G p.D401G exonic ENSG00000183775.11 . nonsynonymous SNV ENSG00000183775.11:ENST00000512467.6:exon4:c.A1202G:p.D401G 5q31.3 C3L-04853 . . . . . . . . . 12.20 D D B B D D L T N 0.939 T T D 0.386 0.398 0.861 1.000 D T D D D D 3.357 24.300 0.998 D D 0.089 2.844 0.277 3.584 0.388 0.554 0.574 0.618 0.568 . 6.170 5.020 8.841 1.312 0.756 1.000 1.000 1.000 893 . . . . KCTD16 358 1 191 27 0.123853211009174 TRUE TRUE ENSG00000124496.12 . BCM GRCh38.p13 chr6 42246541 42246541 + G G T Nonsense_Mutation SNP ENST00000372922.8 exon14 c.C2660A p.S887X exonic ENSG00000124496.12 . stopgain ENSG00000124496.12:ENST00000372922.8:exon14:c.C2660A:p.S887X 6p21.1 C3L-04853 . . . . . . . . . 5.6 . . . . D A . . . 0.547 . . . . . . . . . D D . . 8.718 45 0.997 D N 0.925 11.707 0.801 10.168 1.000 0.732 0.710 0.744 0.655 . 5.170 5.170 6.284 1.176 0.676 1.000 1.000 0.998 889 SANT/Myb_domain;SANT_domain . . . TRERF1 129 0 48 4 0.0769230769230769 TRUE TRUE ENSG00000224940.8 . BCM GRCh38.p13 chr7 128352058 128352058 + C C T Missense_Mutation SNP ENST00000446477.6 exon6 c.G1498A p.G500R exonic ENSG00000224940.8 . nonsynonymous SNV ENSG00000224940.8:ENST00000446477.6:exon6:c.G1498A:p.G500R 7q32.1 C3L-04853 . . . . . . . . . 10.17 T D D D . D M . N 0.635 T T D 0.147 0.354 0.214 . D T D T D T 3.205 23.900 0.998 D . 0.414 4.433 0.355 4.057 1.000 0.598 0.563 0.608 0.639 . 3.250 3.250 2.633 0.918 0.470 0.529 0.623 0.859 638 . . . . PRRT4 86 0 75 8 0.0963855421686747 TRUE TRUE ENSG00000257335.8 . BCM GRCh38.p13 chr7 142027133 142027133 + C C T Missense_Mutation SNP ENST00000549489.6 exon9 c.C1001T p.A334V exonic ENSG00000257335.8 . nonsynonymous SNV ENSG00000257335.8:ENST00000549489.6:exon9:c.C1001T:p.A334V 7q34 C3L-04853 2.499e-05 0 8.696e-05 0 0 3.016e-05 0 0 rs782549716 10.20 D D P B N N M D N 0.513 T D D 0.380 0.435 0.863 0.044 T T T T D D 2.525 22.500 0.998 D D 0.285 3.704 0.235 3.361 1.000 0.487 0.574 0.547 0.564 . 5.550 5.550 7.520 1.026 0.599 0.821 0.022 0.144 923 . . . ID=COSV72073695;OCCURENCE=1(oesophagus),2(endometrium) MGAM 294 0 192 20 0.0943396226415094 TRUE TRUE ENSG00000120899.18 . BCM GRCh38.p13 chr8 27419943 27419943 + C C T Missense_Mutation SNP ENST00000346049.10 exon3 c.C253T p.R85W exonic ENSG00000120899.18 . nonsynonymous SNV ENSG00000120899.18:ENST00000346049.10:exon3:c.C253T:p.R85W 8p21.2 C3L-04853 4.952e-05 0.0002 0 0 0 1.501e-05 0 0.0002 rs369608545 6.20 D D B B N N N T D 0.258 T T D 0.320 . 0.772 0.427 T T T T T T 3.373 24.300 0.998 D D -0.058 2.311 0.110 2.777 1.000 0.672 0.702 0.653 0.568 . 5.150 5.150 0.308 1.026 0.599 0.991 1.000 0.990 878 0.000 . . ID=COSV57766597;OCCURENCE=1(skin) PTK2B 295 0 239 16 0.0627450980392157 TRUE TRUE ENSG00000107331.17 . BCM GRCh38.p13 chr9 137010727 137010727 + C C A Missense_Mutation SNP ENST00000371605.7 exon39 c.G6064T p.V2022L exonic ENSG00000107331.17 . nonsynonymous SNV ENSG00000107331.17:ENST00000371605.7:exon39:c.G6064T:p.V2022L 9q34.3 C3L-04853 . . . . . . . . . 6.20 T T B B N D L D N 0.452 T T D 0.242 0.322 0.455 0.699 D T T T T T 2.275 21.400 0.896 D D -0.549 1.082 -0.425 1.329 0.996 0.696 0.634 0.723 0.700 . 3.620 3.620 5.114 -0.019 0.435 1.000 0.024 0.697 982 . . . ID=COSV55806269;OCCURENCE=1(lung) ABCA2 218 0 126 21 0.142857142857143 TRUE TRUE ENSG00000169126.16 . BCM GRCh38.p13 chr10 27862603 27862603 + C C A Missense_Mutation SNP ENST00000305242.10 exon18 c.G2630T p.R877L exonic ENSG00000169126.16 . nonsynonymous SNV ENSG00000169126.16:ENST00000305242.10:exon18:c.G2630T:p.R877L 10p12.1 C3L-04853 . . . . . . . . . 18.20 D D D D D D M D D 0.598 D D D 0.761 0.491 0.924 0.258 T T D D D D 4.163 28.300 0.998 D D 0.823 9.255 0.808 10.366 0.985 0.638 0.574 0.653 0.668 . 5.750 5.750 5.929 1.020 0.599 1.000 1.000 0.999 763 . . . ID=COSV59467198;OCCURENCE=2(thyroid) ARMC4 157 0 49 8 0.140350877192982 TRUE TRUE ENSG00000138347.15 . BCM GRCh38.p13 chr10 68175332 68175332 + G G T Missense_Mutation SNP ENST00000358913.9 exon12 c.G2574T p.Q858H exonic ENSG00000138347.15 . nonsynonymous SNV ENSG00000138347.15:ENST00000358913.9:exon12:c.G2574T:p.Q858H 10q21.3 C3L-04853 . . . . . . . . . 5.20 T T D P D N M T N 0.341 T T T 0.156 0.231 0.700 0.128 T T T T D T 2.616 22.700 0.995 D N 0.371 4.168 0.406 4.402 0.986 0.554 0.574 0.547 0.621 . 5.870 4.970 1.701 1.172 0.672 1.000 1.000 0.997 930 . . . ID=COSV62732852;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) MYPN 372 0 158 15 0.0867052023121387 TRUE TRUE ENSG00000154478.4 . BCM GRCh38.p13 chr10 123666785 123666785 + G G A Missense_Mutation SNP ENST00000284674.2 exon1 c.G378A p.M126I exonic ENSG00000154478.4 . nonsynonymous SNV ENSG00000154478.4:ENST00000284674.2:exon1:c.G378A:p.M126I 10q26.13 C3L-04853 . . . . . . . . . 3.20 T T B B D D N T N 0.134 T T T 0.095 0.606 0.300 1.036 T T T T T T 2.050 19.630 0.975 D N -0.326 1.552 -0.163 1.878 0.911 0.516 0.610 0.504 0.563 . 4.110 3.110 0.684 1.172 0.672 1.000 1.000 0.999 779 GPCR,_rhodopsin-like,_7TM . . . GPR26 545 0 317 34 0.0968660968660969 TRUE TRUE ENSG00000070985.13 . BCM GRCh38.p13 chr11 2413134 2413134 + C C T Missense_Mutation SNP ENST00000155858.10 exon14 c.G2096A p.R699Q exonic ENSG00000070985.13 . nonsynonymous SNV ENSG00000070985.13:ENST00000155858.10:exon14:c.G2096A:p.R699Q 11p15.5 C3L-04853 0.0002 0 0 0 0 0 0 0.0006 rs770117161 2.20 T T B B N N L D N 0.070 T T D 0.197 0.390 0.040 0.104 T T T T T T 2.785 23.000 0.834 N N -1.392 0.120 -1.433 0.135 0.134 0.403 0.547 0.578 0.563 . 3.690 -3.150 0.360 -0.759 -0.252 0.172 0.090 0.014 988 . . . . TRPM5 196 0 119 27 0.184931506849315 TRUE NA ENSG00000149256.16 . BCM GRCh38.p13 chr11 78658646 78658646 + C C G Missense_Mutation SNP ENST00000278550.12 exon34 c.G7722C p.L2574F exonic ENSG00000149256.16 . nonsynonymous SNV ENSG00000149256.16:ENST00000278550.12:exon34:c.G7722C:p.L2574F 11q14.1 C3L-04853 . . . . . . . . . 9.20 D D B B D D N D N 0.135 T T D 0.193 0.340 0.239 0.314 T T T T D D 2.297 21.600 0.987 D N -0.215 1.833 -0.043 2.219 0.977 0.615 0.563 0.659 0.564 . 5.650 3.800 1.385 0.127 0.596 1.000 0.999 0.998 880 . . . . TENM4 458 0 349 26 0.0693333333333333 TRUE TRUE ENSG00000196119.8 . BCM GRCh38.p13 chr11 124570573 124570573 + G G A Missense_Mutation SNP ENST00000642111.1 exon1 c.G505A p.G169R exonic ENSG00000196119.8 . nonsynonymous SNV ENSG00000196119.8:ENST00000642111.1:exon1:c.G505A:p.G169R 11q24.2 C3L-04853 2.473e-05 0 0.0003 0 0 0 0 0 rs753980426 8.16 . . D D N D H . . . D T T 0.309 0.754 0.631 0.419 T T T T D D 3.078 23.600 0.999 D N 0.649 6.459 0.461 4.825 1.000 0.487 0.563 0.574 0.542 . 5.030 5.030 1.045 1.176 0.676 0.002 0.870 0.450 726 GPCR,_rhodopsin-like,_7TM . . ID=COSV99421034;OCCURENCE=1(stomach) OR8A1 310 0 161 19 0.105555555555556 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-04853 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 453 1 227 22 0.0883534136546185 TRUE TRUE ENSG00000165548.11 . BCM GRCh38.p13 chr14 77256659 77256659 + C C T Missense_Mutation SNP ENST00000298351.5 exon24 c.C2354T p.A785V exonic ENSG00000165548.11 . nonsynonymous SNV ENSG00000165548.11:ENST00000298351.5:exon24:c.C2354T:p.A785V 14q24.3 C3L-04853 2.485e-05 0 0 0 0.0002 2.998e-05 0 0 rs756710566 0.20 T T B B N N L T N 0.040 T T T 0.038 0.200 0.043 0.405 T T T T T T 0.808 9.471 0.993 N N -0.391 1.403 -0.354 1.457 0.828 0.615 0.590 0.659 0.564 . 4.840 3.880 1.299 1.026 0.599 0.018 0.376 0.109 676 . . . ID=COSV53604461;OCCURENCE=1(large_intestine),1(stomach) TMEM63C 262 0 160 25 0.135135135135135 TRUE TRUE ENSG00000159433.12 . BCM GRCh38.p13 chr15 42684817 42684817 + T T A Missense_Mutation SNP ENST00000290607.12 exon23 c.T3239A p.M1080K exonic ENSG00000159433.12 . nonsynonymous SNV ENSG00000159433.12:ENST00000290607.12:exon23:c.T3239A:p.M1080K 15q15.2 C3L-04853 . . . . . . . . . 1.16 T . . . . N L T N 0.145 T T D 0.114 0.257 0.302 . T T T T T T -0.836 0.021 0.770 N N -0.889 0.535 -1.103 0.373 1.000 0.615 0.654 0.659 0.492 . 5.270 -9.900 -0.626 -0.152 0.665 0.000 0.000 0.325 91 . . . . STARD9 391 0 203 34 0.143459915611814 TRUE TRUE ENSG00000205832.7 . BCM GRCh38.p13 chr16 4600282 4600282 + G G A Missense_Mutation SNP ENST00000444310.4 exon16 c.G3391A p.G1131S exonic ENSG00000205832.7 . nonsynonymous SNV ENSG00000205832.7:ENST00000444310.4:exon16:c.G3391A:p.G1131S 16p13.3 C3L-04853 . . . . . . . . rs975896413 0.17 T T B B . N N . N 0.071 T T T 0.009 0.172 0.040 . . T T T T T -0.202 0.506 0.519 N N -1.437 0.102 -1.454 0.126 0.004 0.581 0.590 0.576 0.542 . 3.360 -0.276 0.058 -0.240 -0.092 0.000 0.003 0.002 598 . . . . C16orf96 371 0 221 34 0.133333333333333 TRUE NA ENSG00000125414.19 . BCM GRCh38.p13 chr17 10526623 10526623 + C C T Missense_Mutation SNP ENST00000245503.10 exon30 c.G4163A p.R1388H exonic ENSG00000125414.19 . nonsynonymous SNV ENSG00000125414.19:ENST00000245503.10:exon30:c.G4163A:p.R1388H 17p13.1 C3L-04853 1.647e-05 0 8.637e-05 0 0 0 0 6.056e-05 rs745754711 18.20 D D D D U D M T D 0.833 D D D 0.739 . 0.962 0.997 D D D D D D 4.284 29.400 1.000 D D 0.932 11.912 0.875 12.718 1.000 0.693 0.590 0.659 0.564 . 5.200 5.200 7.905 1.026 0.599 1.000 1.000 1.000 459 Myosin_tail . . ID=COSV55432911;OCCURENCE=1(large_intestine),1(central_nervous_system),1(ovary),1(stomach),1(kidney) MYH2 794 0 433 42 0.0884210526315789 TRUE TRUE ENSG00000004139.14 . BCM GRCh38.p13 chr17 28388351 28388351 + C C T Missense_Mutation SNP ENST00000585482.6 exon7 c.C1735T p.L579F exonic ENSG00000004139.14 . nonsynonymous SNV ENSG00000004139.14:ENST00000585482.6:exon7:c.C1735T:p.L579F 17q11.2 C3L-04853 . . . . . . . . . 13.16 . D D D D D . . . 0.741 T T D 0.310 0.576 0.691 . D T D D D D 3.362 24.300 0.999 D D 1.078 16.601 0.914 14.370 1.000 0.615 0.634 0.602 0.528 . 5.390 5.390 4.861 1.026 0.599 1.000 0.968 0.706 127 Toll/interleukin-1_receptor_homology_(TIR)_domain . . . SARM1 241 1 142 15 0.0955414012738854 TRUE TRUE ENSG00000171431.4 . BCM GRCh38.p13 chr17 40885056 40885056 + T T C Missense_Mutation SNP ENST00000167588.4 exon1 c.A130G p.I44V exonic ENSG00000171431.4 . nonsynonymous SNV ENSG00000171431.4:ENST00000167588.4:exon1:c.A130G:p.I44V 17q21.2 C3L-04853 . . . . . . . . . 2.20 T T B B N N N D N 0.069 T T T 0.204 0.228 0.708 0.249 T T T T T T 1.337 14.650 0.958 D N -0.318 1.570 -0.104 2.036 0.877 0.516 0.610 0.547 0.530 . 5.790 5.790 1.755 1.138 0.665 1.000 0.908 0.559 105 . . . . KRT20 520 0 300 40 0.117647058823529 TRUE TRUE ENSG00000104848.1 . BCM GRCh38.p13 chr19 49070088 49070088 + C C T Missense_Mutation SNP ENST00000221444.1 exon2 c.G1346A p.G449E exonic ENSG00000104848.1 . nonsynonymous SNV ENSG00000104848.1:ENST00000221444.1:exon2:c.G1346A:p.G449E 19q13.33 C3L-04853 8.5e-06 0 0 0 0 0 0 6.847e-05 rs765895551 4.20 T T P B N N N D N 0.156 D D D 0.320 0.187 0.698 0.838 T T T T T T 1.112 12.890 0.812 N N -0.651 0.897 -0.654 0.966 0.003 0.598 0.590 0.596 0.530 . 4.270 3.210 0.801 0.125 -0.306 0.098 0.367 0.503 867 . . . . KCNA7 158 0 101 12 0.106194690265487 TRUE NA ENSG00000160469.17 . BCM GRCh38.p13 chr19 55305556 55305556 + C C G Missense_Mutation SNP ENST00000309383.6 exon16 c.C1860G p.I620M exonic ENSG00000160469.17 . nonsynonymous SNV ENSG00000160469.17:ENST00000309383.6:exon16:c.C1860G:p.I620M 19q13.42 C3L-04853 . . . . . . . . . 11.20 D D P P D D M T N 0.557 T T D 0.268 0.514 0.868 1.524 T T D D D D 3.443 24.500 0.986 D N 0.504 5.066 0.498 5.140 1.000 0.635 0.627 0.644 0.605 . 5.040 3.980 1.979 1.025 0.598 1.000 1.000 0.999 988 . . . . BRSK1 267 0 142 8 0.0533333333333333 TRUE TRUE ENSG00000182872.16 . BCM GRCh38.p13 chrX 47185142 47185142 + C C T Nonsense_Mutation SNP ENST00000377604.8 exon18 c.C2038T p.R680X exonic ENSG00000182872.16 . stopgain ENSG00000182872.16:ENST00000377604.8:exon18:c.C2038T:p.R680X Xp11.3 C3L-04853 . . . . . . . . . 5.5 . . . . D A . . . 0.793 . . . . . . . . . D D . . 5.471 34 0.998 D . . . . . 0.995 . . . . . 5.720 2.840 0.064 0.947 0.599 0.243 0.998 0.984 404 . . . ID=COSV100237880;OCCURENCE=1(ovary) RBM10 655 0 387 27 0.0652173913043478 TRUE TRUE ENSG00000147206.17 . BCM GRCh38.p13 chrX 103077617 103077617 + T T A Missense_Mutation SNP ENST00000395065.8 exon18 c.A1581T p.K527N exonic ENSG00000147206.17 . nonsynonymous SNV ENSG00000147206.17:ENST00000395065.8:exon18:c.A1581T:p.K527N Xq22.1 C3L-04853 . . . . . . . . . 2.19 D D P B N N L T N 0.068 T T T 0.089 0.158 0.407 0.262 T T T T T T 0.899 10.420 0.959 N . . . . . 0.000 . . . . . 3.880 -1.470 -0.033 -0.173 -0.155 0.952 0.015 0.020 305 . . . . NXF3 253 0 196 12 0.0576923076923077 TRUE TRUE ENSG00000175718.10 . BCM GRCh38.p13 chrX 115189601 115189601 + G G A Missense_Mutation SNP ENST00000424776.5 exon1 c.G160A p.V54I exonic ENSG00000175718.10 . nonsynonymous SNV ENSG00000175718.10:ENST00000424776.5:exon1:c.G160A:p.V54I Xq23 C3L-04853 . . . . . . . . . 2.18 T T P B . D L D N 0.218 T T T 0.281 0.630 0.076 . T T T T T T -0.242 0.416 0.907 N . . . . . 0.019 . . . . . 0.690 -1.380 2.191 -1.088 -1.380 1.000 0.003 0.003 937 RNA_recognition_motif_domain . . ID=COSV57759976;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) RBMXL3 465 0 278 23 0.0764119601328904 TRUE TRUE ENSG00000147381.11 . BCM GRCh38.p13 chrX 151924469 151924469 + C C T Missense_Mutation SNP ENST00000360243.6 exon3 c.C805T p.R269C exonic ENSG00000147381.11 . nonsynonymous SNV ENSG00000147381.11:ENST00000360243.6:exon3:c.C805T:p.R269C Xq28 C3L-04853 8.066e-05 0 0.0002 0 0 8.379e-05 0.0016 0 rs755062941 0.19 T T B B N N N T N 0.058 T T T 0.009 0.470 0.043 0.003 T T T T T T -0.611 0.069 0.757 N . . . . . 0.030 . . . . . 2.370 -3.410 -2.474 -2.117 -1.019 0.000 0.000 0.001 728 MAGE_homology_domain . . ID=COSV52340702;OCCURENCE=2(breast),1(large_intestine),1(NS) MAGEA4 317 0 193 17 0.080952380952381 NA TRUE ENSG00000163521.16 . BCM GRCh38.p13 chr2 219237511 219237511 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000163521.16 ENST00000295759.12:exon16:c.1689+1G>T . . 2q35 C3L-04853 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.735 34 0.994 D . 1.153 20.188 0.996 18.596 1.000 0.099 0.105 0.138 0.118 0.984 5.090 5.090 7.423 1.026 0.594 1.000 1.000 0.992 546 . . . . GLB1L 269 0 142 16 0.10126582278481 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673838 7673838 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon8:c.783-1G>A . . 17p13.1 C3L-04853 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.861 33 0.993 D . 0.947 12.324 0.737 8.497 1.000 0.295 0.272 0.343 0.120 0.969 4.820 4.820 7.905 1.022 0.596 1.000 0.054 0.668 432 . . . ID=COSV52729930;OCCURENCE=1(breast),1(parathyroid),1(liver),1(oesophagus),1(large_intestine),1(stomach),2(haematopoietic_and_lymphoid_tissue),6(urinary_tract),1(lung),1(upper_aerodigestive_tract) TP53 720 0 378 48 0.112676056338028 TRUE TRUE ENSG00000132768.14 . BCM GRCh38.p13 chr1 43971856 43971856 + C C A Silent SNP ENST00000255108.8 exon4 c.C954A p.A318A exonic ENSG00000132768.14 . synonymous SNV ENSG00000132768.14:ENST00000255108.8:exon4:c.C954A:p.A318A 1p34.1 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPH2 399 0 271 35 0.11437908496732 TRUE TRUE ENSG00000122420.10 . BCM GRCh38.p13 chr1 78492887 78492887 + C C A Silent SNP ENST00000370757.8 exon2 c.C144A p.I48I exonic ENSG00000122420.10 . synonymous SNV ENSG00000122420.10:ENST00000370757.8:exon2:c.C144A:p.I48I 1p31.1 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTGFR 356 1 210 14 0.0625 TRUE TRUE ENSG00000163060.8 . BCM GRCh38.p13 chr2 94871780 94871780 + C C T Silent SNP ENST00000295201.5 exon1 c.C201T p.H67H exonic ENSG00000163060.8 . synonymous SNV ENSG00000163060.8:ENST00000295201.5:exon1:c.C201T:p.H67H 2q11.1 C3L-04853 . . . . . . . . rs199545713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TEKT4 454 0 324 20 0.0581395348837209 TRUE NA ENSG00000113231.14 . BCM GRCh38.p13 chr5 77404781 77404781 + A A G Silent SNP ENST00000264917.10 exon12 c.A1272G p.S424S exonic ENSG00000113231.14;ENSG00000284762.1 . synonymous SNV ENSG00000113231.14:ENST00000264917.10:exon12:c.A1272G:p.S424S,ENSG00000284762.1:ENST00000646262.1:exon14:c.A900G:p.S300S 5q13.3 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE8B 514 0 210 12 0.0540540540540541 TRUE NA ENSG00000181965.6 . BCM GRCh38.p13 chr5 135535361 135535361 + C C T Silent SNP ENST00000314744.6 exon1 c.G330A p.A110A exonic ENSG00000181965.6 . synonymous SNV ENSG00000181965.6:ENST00000314744.6:exon1:c.G330A:p.A110A 5q31.1 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEUROG1 417 0 296 43 0.126843657817109 TRUE TRUE ENSG00000156463.18 . BCM GRCh38.p13 chr5 146049105 146049105 + T T C Silent SNP ENST00000359120.9 exon7 c.T1182C p.H394H exonic ENSG00000156463.18 . synonymous SNV ENSG00000156463.18:ENST00000359120.9:exon7:c.T1182C:p.H394H 5q32 C3L-04853 8.24e-06 9.614e-05 0 0 0 0 0 0 rs750545470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SH3RF2 488 0 337 19 0.0533707865168539 TRUE NA ENSG00000146857.4 . BCM GRCh38.p13 chr7 135251813 135251813 + C C A Silent SNP ENST00000275764.3 exon7 c.C750A p.A250A exonic ENSG00000146857.4 . synonymous SNV ENSG00000146857.4:ENST00000275764.3:exon7:c.C750A:p.A250A 7q33 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STRA8 392 0 272 24 0.0810810810810811 TRUE TRUE ENSG00000170748.7 . BCM GRCh38.p13 chr11 7090083 7090083 + C C T Silent SNP ENST00000306904.7 exon1 c.C963T p.G321G exonic ENSG00000170748.7 . synonymous SNV ENSG00000170748.7:ENST00000306904.7:exon1:c.C963T:p.G321G 11p15.4 C3L-04853 2.698e-05 0 0.0002 0 0 0 0 6.158e-05 rs561845229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBMXL2 188 0 95 6 0.0594059405940594 TRUE NA ENSG00000149452.16 . BCM GRCh38.p13 chr11 62993570 62993570 + C C T Silent SNP ENST00000336232.7 exon10 c.G1383A p.P461P exonic ENSG00000149452.16 . synonymous SNV ENSG00000149452.16:ENST00000336232.7:exon10:c.G1383A:p.P461P 11q12.3 C3L-04853 7.429e-05 0 0.0004 0.0001 0 4.502e-05 0 0 rs765180492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC22A8 172 0 85 18 0.174757281553398 TRUE NA ENSG00000120457.12 . BCM GRCh38.p13 chr11 128912047 128912047 + C C T Silent SNP ENST00000529694.6 exon2 c.C774T p.N258N exonic ENSG00000120457.12 . synonymous SNV ENSG00000120457.12:ENST00000529694.6:exon2:c.C774T:p.N258N 11q24.3 C3L-04853 . . . . . . . . rs377321127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57966578;OCCURENCE=1(stomach),1(prostate) KCNJ5 156 0 107 8 0.0695652173913043 TRUE TRUE ENSG00000211899.10 . BCM GRCh38.p13 chr14 105854625 105854625 + G G A Silent SNP ENST00000637539.2 exon4 c.C1080T p.D360D exonic ENSG00000211899.10 . synonymous SNV ENSG00000211899.10:ENST00000637539.2:exon4:c.C1080T:p.D360D 14q32.33 C3L-04853 7.961e-05 0 0 0.0005 0 3.161e-05 0 0.0002 rs374663321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHM 904 0 563 62 0.0992 TRUE NA ENSG00000141506.13 . BCM GRCh38.p13 chr17 8884758 8884758 + G G A Silent SNP ENST00000447110.5 exon15 c.C2154T p.I718I exonic ENSG00000141506.13 . synonymous SNV ENSG00000141506.13:ENST00000447110.5:exon15:c.C2154T:p.I718I 17p13.1 C3L-04853 8.275e-06 0 0 0 0 0 0 6.066e-05 rs148443913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52650541;OCCURENCE=2(skin) PIK3R5 308 0 194 26 0.118181818181818 TRUE TRUE ENSG00000173821.19 . BCM GRCh38.p13 chr17 80313071 80313071 + G G T Silent SNP ENST00000508628.6 exon16 c.G2862T p.G954G exonic ENSG00000173821.19 . synonymous SNV ENSG00000173821.19:ENST00000508628.6:exon16:c.G2862T:p.G954G 17q25.3 C3L-04853 1.651e-05 9.623e-05 8.643e-05 0 0 0 0 0 rs373595025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF213 722 1 467 25 0.0508130081300813 TRUE NA ENSG00000160111.13 . BCM GRCh38.p13 chr19 16914738 16914738 + G G A Silent SNP ENST00000443236.6 exon28 c.C3705T p.A1235A exonic ENSG00000160111.13 . synonymous SNV ENSG00000160111.13:ENST00000443236.6:exon28:c.C3705T:p.A1235A 19p13.11 C3L-04853 0.0010 0.0001 8.688e-05 0.0012 0 0.0003 0 0.0054 rs200423977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV71597583;OCCURENCE=1(stomach) CPAMD8 461 1 381 21 0.0522388059701493 TRUE NA ENSG00000160469.17 . BCM GRCh38.p13 chr19 55306332 55306332 + C C T Silent SNP ENST00000309383.6 exon17 c.C1971T p.F657F exonic ENSG00000160469.17 . synonymous SNV ENSG00000160469.17:ENST00000309383.6:exon17:c.C1971T:p.F657F 19q13.42 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58670721;OCCURENCE=2(skin) BRSK1 649 0 381 41 0.0971563981042654 TRUE TRUE ENSG00000156282.5 . BCM GRCh38.p13 chr21 30166549 30166549 + G G A Silent SNP ENST00000286808.5 exon1 c.C69T p.A23A exonic ENSG00000156282.5 . synonymous SNV ENSG00000156282.5:ENST00000286808.5:exon1:c.C69T:p.A23A 21q21.3 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLDN17 241 0 173 25 0.126262626262626 TRUE TRUE ENSG00000120500.18 . BCM GRCh38.p13 chrX 70276212 70276212 + G G C Silent SNP ENST00000307959.9 exon6 c.G276C p.G92G exonic ENSG00000120500.18 . synonymous SNV ENSG00000120500.18:ENST00000307959.9:exon6:c.G276C:p.G92G Xq13.1 C3L-04853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARR3 463 0 280 17 0.0572390572390572 TRUE TRUE ENSG00000078808.18 . BCM GRCh38.p13 chr1 1218975 1218975 + C C T Intron SNP NA NA NA NA intronic ENSG00000078808.18 . . . 1p36.33 C3L-04853 8.598e-06 0 0 0 0 1.577e-05 0 0 rs376779621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SDF4 262 0 211 27 0.113445378151261 TRUE NA ENSG00000136560.14 . BCM GRCh38.p13 chr2 161179643 161179643 + A A T 5'UTR SNP NA NA NA NA UTR5 ENSG00000136560.14 ENST00000392749.7:c.-20A>T . . 2q24.2 C3L-04853 . . . . . . . . . 7.14 D D . . . D . . N 0.871 T T T 0.266 0.409 0.442 . . T D T D T 2.163 20.600 0.994 D D 0.477 4.861 0.574 5.916 1.000 0.719 0.723 0.710 0.714 . 6.040 6.040 7.179 1.312 0.756 1.000 1.000 0.995 369 . . . . TANK 176 0 93 6 0.0606060606060606 TRUE TRUE ENSG00000254921.1 . BCM GRCh38.p13 chr11 8038922 8038922 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000254921.1 . . . 11p15.4 C3L-04853 . . . . . . . . rs144469939 1.18 T T B B N N . D N 0.222 T T T 0.260 . 0.680 0.205 T . T T T T -1.091 0.004 0.859 N N -1.598 0.056 -1.697 0.052 1.000 0.497 0.590 0.547 0.542 . 4.370 -8.750 -2.819 -1.828 -0.886 0.019 0.416 0.974 883 . . . ID=COSV59491507;OCCURENCE=1(skin) AC116456.1 254 0 181 13 0.0670103092783505 TRUE NA ENSG00000215612.8 . BCM GRCh38.p13 chr4 8871284 8871284 + C C T Missense_Mutation SNP ENST00000400677.5 exon1 c.G331A p.G111R exonic ENSG00000215612.8 . nonsynonymous SNV ENSG00000215612.8:ENST00000400677.5:exon1:c.G331A:p.G111R 4p16.1 C3L-02115 . . . . . . . . . 7.19 D D B B . N L D D 0.457 T T D 0.205 0.323 0.889 1.078 D T T T D T 2.341 21.800 0.993 N N -0.688 0.833 -0.651 0.970 0.995 0.598 0.578 0.607 0.639 . 2.760 1.860 0.516 0.934 0.487 0.974 0.819 0.441 . . . . . HMX1 136 0 232 13 0.0530612244897959 TRUE TRUE ENSG00000266524.3 . BCM GRCh38.p13 chr10 47300938 47300938 + G G A Missense_Mutation SNP ENST00000580279.2 exon1 c.G287A p.G96D exonic ENSG00000266524.3 . nonsynonymous SNV ENSG00000266524.3:ENST00000580279.2:exon1:c.G287A:p.G96D 10q11.22 C3L-02115 . . . . . . . . . 3.5 . T . . . . . T . 0.796 . . . . . . . . D . . . D 4.353 30 . . D . . . . . . . . . . . . 6.999 1.176 0.676 1.000 0.997 0.978 976 . . . . GDF10 57 0 119 8 0.062992125984252 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02115 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 333 0 452 45 0.0905432595573441 TRUE TRUE ENSG00000136011.15 . BCM GRCh38.p13 chr12 103620484 103620484 + G G - Frame_Shift_Del NA ENST00000388887.7 exon4 c.348delG p.S118Hfs*58 exonic ENSG00000136011.15 . frameshift deletion ENSG00000136011.15:ENST00000388887.7:exon4:c.348delG:p.S118Hfs*58 12q23.3 C3L-02115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAB2 177 0 293 23 0.0727848101265823 NA TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51048816 51048816 + G G T Missense_Mutation SNP ENST00000342988.8 exon3 c.G380T p.C127F exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon3:c.G380T:p.C127F 18q21.2 C3L-02115 . . . . . . . . . 20.20 D D D D D D H D D 0.987 D D D 0.989 0.933 0.993 3.576 D D D D D D 4.193 28.600 0.993 D D 1.040 15.228 0.962 16.690 1.000 0.707 0.725 0.663 0.714 . 5.320 5.320 9.998 1.176 0.618 1.000 1.000 1.000 680 MAD_homology_1,_Dwarfin-type;MAD_homology,_MH1 . . ID=COSV61684333;OCCURENCE=1(large_intestine),1(pancreas),1(lung),1(small_intestine) SMAD4 357 0 448 15 0.0323974082073434 TRUE TRUE ENSG00000131264.3 . BCM GRCh38.p13 chrX 73447683 73447683 + G G A Missense_Mutation SNP ENST00000373514.2 exon1 c.G430A p.A144T exonic ENSG00000131264.3 . nonsynonymous SNV ENSG00000131264.3:ENST00000373514.2:exon1:c.G430A:p.A144T Xq13.2 C3L-02115 . . . . . . . . . 0.19 T T B B N N L T N 0.043 T T T 0.015 0.379 0.616 0.109 T T T T T T -0.561 0.088 0.854 N . . . . . 0.999 . . . . . 2.180 -2.080 -0.786 -1.859 -2.308 0.000 0.000 0.001 146 Caudal-like_activation_domain . . . CDX4 53 0 86 7 0.0752688172043011 TRUE TRUE ENSG00000185298.13 . BCM GRCh38.p13 chr17 81670454 81670454 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000185298.13 ENST00000329214.13:exon3:c.497+1G>A . . 17q25.3 C3L-02115 7.103e-05 0.0001 0 0 0 0.0001 0 0 rs201831605 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.546 34 0.995 D . 0.967 12.906 0.786 9.733 1.000 0.257 0.272 0.172 0.118 0.964 4.670 4.670 3.577 1.075 0.676 1.000 0.993 0.974 . . . . ID=COSV61303151;OCCURENCE=1(skin) CCDC137 151 0 178 11 0.0582010582010582 TRUE TRUE ENSG00000116544.12 . BCM GRCh38.p13 chr1 34868729 34868729 + G G A Silent SNP ENST00000373347.6 exon9 c.C2361T p.R787R exonic ENSG00000116544.12 . synonymous SNV ENSG00000116544.12:ENST00000373347.6:exon9:c.C2361T:p.R787R 1p34.3 C3L-02115 4.283e-05 0 0 0.0001 0 4.69e-05 0 6.131e-05 rs755715413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DLGAP3 194 0 282 15 0.0505050505050505 TRUE NA ENSG00000177679.16 . BCM GRCh38.p13 chr7 76267420 76267420 + G G A Silent SNP ENST00000611745.2 exon11 c.G993A p.A331A exonic ENSG00000177679.16 . synonymous SNV ENSG00000177679.16:ENST00000611745.2:exon11:c.G993A:p.A331A 7q11.23 C3L-02115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SRRM3 72 0 149 11 0.06875 TRUE TRUE ENSG00000005379.17 . BCM GRCh38.p13 chr17 58305603 58305603 + G G A Silent SNP ENST00000343736.9 exon28 c.C5298T p.P1766P exonic ENSG00000005379.17 . synonymous SNV ENSG00000005379.17:ENST00000343736.9:exon28:c.C5298T:p.P1766P 17q22 C3L-02115 1.009e-05 0 0 0 0 0 0 0.0001 rs549004710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPOAP1 27 0 53 4 0.0701754385964912 TRUE NA ENSG00000130477.15 . BCM GRCh38.p13 chr19 17672495 17672495 + G G A Silent SNP ENST00000519716.6 exon4 c.C153T p.F51F exonic ENSG00000130477.15 . synonymous SNV ENSG00000130477.15:ENST00000519716.6:exon4:c.C153T:p.F51F 19p13.11 C3L-02115 0.0006 0.0002 0.0015 0.0001 0 0.0008 0 0 rs202115985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13A 136 0 199 13 0.0613207547169811 TRUE NA ENSG00000213996.13 . BCM GRCh38.p13 chr19 19264724 19264724 + G G A Silent SNP ENST00000389363.5 exon10 c.C1074T p.P358P exonic ENSG00000213996.13 . synonymous SNV ENSG00000213996.13:ENST00000389363.5:exon10:c.C1074T:p.P358P 19p13.11 C3L-02115 0.0001 0 0.0006 0 0 7.702e-05 0 8.085e-05 rs199962010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TM6SF2 93 0 104 9 0.079646017699115 TRUE NA ENSG00000267041.6 . BCM GRCh38.p13 chr19 36750755 36750755 + G G T Silent SNP ENST00000591344.2 exon5 c.C285A p.I95I exonic ENSG00000267041.6 . synonymous SNV ENSG00000267041.6:ENST00000591344.2:exon5:c.C285A:p.I95I 19q13.12 C3L-02115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF850 94 0 135 8 0.0559440559440559 TRUE TRUE ENSG00000133454.16 . BCM GRCh38.p13 chr22 25955355 25955355 + C C T Silent SNP ENST00000335473.12 exon39 c.C6147T p.C2049C exonic ENSG00000133454.16 . synonymous SNV ENSG00000133454.16:ENST00000335473.12:exon39:c.C6147T:p.C2049C 22q12.1 C3L-02115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO18B 112 0 165 11 0.0625 TRUE TRUE ENSG00000130540.14 . BCM GRCh38.p13 chr22 43862371 43862371 + G G A Silent SNP ENST00000330884.9 exon1 c.C12T p.S4S exonic ENSG00000130540.14 . synonymous SNV ENSG00000130540.14:ENST00000330884.9:exon1:c.C12T:p.S4S 22q13.31 C3L-02115 8.79e-06 0 0 0 0 1.615e-05 0 0 rs760024551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SULT4A1 144 0 213 13 0.0575221238938053 TRUE NA ENSG00000267496.4 . BCM GRCh38.p13 chr17 43917553 43917553 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000267496.4 . . . 17q21.31 C3L-02115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM215A 169 0 298 16 0.0509554140127389 TRUE NA ENSG00000065717.15 . BCM GRCh38.p13 chr19 3006114 3006114 + G G A Intron SNP NA NA NA NA intronic ENSG00000065717.15 . . . 19p13.3 C3L-02115 8.849e-06 0 8.8e-05 0 0 0 0 0 rs770741631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53581306;OCCURENCE=2(large_intestine) TLE2 280 0 265 15 0.0535714285714286 TRUE NA ENSG00000198793.13 . BCM GRCh38.p13 chr1 11127710 11127710 + C C T Missense_Mutation SNP ENST00000361445.9 exon44 c.G6130A p.V2044M exonic ENSG00000198793.13 . nonsynonymous SNV ENSG00000198793.13:ENST00000361445.9:exon44:c.G6130A:p.V2044M 1p36.22 C3L-02701 . . . . . . . . rs868627779 18.20 D D D D D D M T D 0.552 D D D 0.361 0.685 0.780 2.399 D T D D D D 3.852 26.100 0.999 D D 0.931 11.889 0.899 13.730 1.000 0.707 0.725 0.725 0.714 . 5.800 5.800 7.539 1.026 0.599 1.000 0.997 0.995 375 FKBP12-rapamycin_binding_domain . . . MTOR 176 0 246 27 0.0989010989010989 TRUE NA ENSG00000117245.12 . BCM GRCh38.p13 chr1 20666300 20666300 + C C T Missense_Mutation SNP ENST00000247986.2 exon14 c.G2825A p.R942Q exonic ENSG00000117245.12 . nonsynonymous SNV ENSG00000117245.12:ENST00000247986.2:exon14:c.G2825A:p.R942Q 1p36.12 C3L-02701 8.237e-06 0 0 0 0 1.498e-05 0 0 rs146340669 12.19 D D D D . D M T N 0.441 D T D 0.276 . 0.867 1.320 T T T T D D 3.551 24.900 0.999 D D 0.475 4.850 0.426 4.551 1.000 0.706 0.588 0.710 0.527 . 5.750 5.750 3.876 1.026 0.599 0.998 0.350 0.080 765 . . . . KIF17 646 1 1033 60 0.0548947849954254 TRUE NA ENSG00000179397.18 . BCM GRCh38.p13 chr1 244477577 244477577 + T T C Missense_Mutation SNP ENST00000366534.9 exon3 c.T151C p.W51R exonic ENSG00000179397.18 . nonsynonymous SNV ENSG00000179397.18:ENST00000366534.9:exon3:c.T151C:p.W51R 1q44 C3L-02701 . . . . . . . . . 12.18 D D D D D D . T D 0.873 T T D 0.474 0.563 0.675 0.917 . T D D D T 3.767 25.700 0.995 D N 0.534 5.307 0.483 5.009 0.016 0.554 0.588 0.547 0.568 . 4.160 4.160 2.823 1.138 0.665 1.000 0.735 0.986 964 . . . . CATSPERE 144 1 216 24 0.1 TRUE NA ENSG00000049323.16 . BCM GRCh38.p13 chr2 33273766 33273766 + C C A Missense_Mutation SNP ENST00000404816.7 exon16 c.C2728A p.Q910K exonic ENSG00000049323.16 . nonsynonymous SNV ENSG00000049323.16:ENST00000404816.7:exon16:c.C2728A:p.Q910K 2p22.3 C3L-02701 . . . . . . . . . 5.19 T T B B . N L D N 0.294 D D D 0.462 0.625 0.270 0.172 T T T T T T 2.322 21.700 0.955 D N -0.145 2.036 0.032 2.473 1.000 0.693 0.610 0.659 0.646 . 5.520 5.520 3.120 1.008 0.549 1.000 0.993 0.913 849 EGF-like_domain;EGF-like_calcium-binding_domain . . . LTBP1 129 0 188 48 0.203389830508475 TRUE TRUE ENSG00000155052.14 . BCM GRCh38.p13 chr2 124903004 124903004 + G G A Missense_Mutation SNP ENST00000431078.1 exon22 c.G3556A p.A1186T exonic ENSG00000155052.14 . nonsynonymous SNV ENSG00000155052.14:ENST00000431078.1:exon22:c.G3556A:p.A1186T 2q14.3 C3L-02701 0.0033 0.0372 0.0012 0.0002 0 5.607e-05 0.0014 0.0001 rs114400050 5.19 T T P B N D M D N 0.248 D T . 0.340 . 0.706 0.090 T T T T T T 1.833 17.980 0.991 D N 0.096 2.870 0.037 2.492 0.001 0.487 0.574 0.574 0.564 . 5.500 4.600 4.274 1.176 0.676 0.997 0.025 0.041 910 Laminin_G_domain . . . CNTNAP5 164 0 239 19 0.0736434108527132 TRUE NA ENSG00000182263.14 . BCM GRCh38.p13 chr2 163610683 163610683 + C C T Missense_Mutation SNP ENST00000333129.4 exon3 c.G1149A p.M383I exonic ENSG00000182263.14 . nonsynonymous SNV ENSG00000182263.14:ENST00000333129.4:exon3:c.G1149A:p.M383I 2q24.3 C3L-02701 . . . . . . . . . 7.20 T T B B D D L D N 0.190 D D T 0.359 0.272 0.452 0.235 T T T T T D 1.856 18.150 0.978 D N 0.073 2.782 0.286 3.636 1.000 0.563 0.574 0.609 0.636 . 6.040 6.040 4.010 1.026 0.599 1.000 0.998 1.000 860 . . . . FIGN 321 0 474 34 0.0669291338582677 TRUE TRUE ENSG00000127831.11 . BCM GRCh38.p13 chr2 218432934 218432934 + C C T Missense_Mutation SNP ENST00000248444.10 exon13 c.C1483T p.R495C exonic ENSG00000127831.11 . nonsynonymous SNV ENSG00000127831.11:ENST00000248444.10:exon13:c.C1483T:p.R495C 2q35 C3L-02701 4.95e-05 0 0.0004 0 0 1.5e-05 0 0 rs768874816 6.20 D D B B N N L T D 0.295 T T T 0.084 0.762 0.564 0.256 T D T T T T 3.108 23.600 0.990 D D -0.300 1.614 -0.237 1.699 0.543 0.615 0.574 0.659 0.542 . 4.660 2.860 3.799 1.026 0.599 0.590 0.600 0.970 924 . . . ID=COSV50288224;OCCURENCE=1(ovary),1(prostate) VIL1 173 0 341 27 0.0733695652173913 NA TRUE ENSG00000144668.12 . BCM GRCh38.p13 chr3 37519287 37519287 + A A T Missense_Mutation SNP ENST00000264741.10 exon11 c.A1169T p.D390V exonic ENSG00000144668.12 . nonsynonymous SNV ENSG00000144668.12:ENST00000264741.10:exon11:c.A1169T:p.D390V 3p22.2 C3L-02701 . . . . . . . . . 13.20 D D D P D D M T D 0.733 T T D 0.457 0.564 0.647 0.887 T D T T D D 4.573 32 0.994 D D 0.876 10.440 0.838 11.329 1.000 0.638 0.590 0.653 0.542 . 5.860 5.860 9.271 1.312 0.756 1.000 0.953 0.981 647 . . . . ITGA9 531 0 741 74 0.0907975460122699 TRUE TRUE ENSG00000177494.6 . BCM GRCh38.p13 chr3 111594045 111594045 + G G A Missense_Mutation SNP ENST00000317012.5 exon2 c.C157T p.R53W exonic ENSG00000177494.6 . nonsynonymous SNV ENSG00000177494.6:ENST00000317012.5:exon2:c.C157T:p.R53W 3q13.13 C3L-02701 . . . . . . . . rs967555755 6.19 D D D P U D L . D 0.287 T T T 0.198 . 0.210 0.028 T T T T D T 1.643 16.650 0.999 N N -0.290 1.639 -0.409 1.356 1.000 0.487 0.492 0.574 0.542 . 3.560 1.540 -0.326 1.006 0.676 0.000 0.072 0.056 694 Zinc_finger,_BED-type . . . ZBED2 218 0 333 34 0.0926430517711172 TRUE NA ENSG00000161217.12 . BCM GRCh38.p13 chr3 196257853 196257853 + A A G Missense_Mutation SNP ENST00000431016.6 exon3 c.T152C p.I51T exonic ENSG00000161217.12 . nonsynonymous SNV ENSG00000161217.12:ENST00000431016.6:exon3:c.T152C:p.I51T 3q29 C3L-02701 1.654e-05 0 0 0 0.0002 1.501e-05 0 0 rs780253017 4.19 T T B B D D N . N 0.604 T T T 0.191 0.369 0.597 0.035 T T T T T T 2.209 20.900 0.947 D D -0.147 2.031 0.116 2.801 1.000 0.732 0.744 0.710 0.714 . 5.950 5.950 6.148 1.312 0.756 1.000 1.000 0.998 754 . . . . PCYT1A 165 0 252 23 0.0836363636363636 TRUE NA ENSG00000170871.12 . BCM GRCh38.p13 chr4 6858488 6858488 + C C T Missense_Mutation SNP ENST00000307659.6 exon6 c.C500T p.A167V exonic ENSG00000170871.12 . nonsynonymous SNV ENSG00000170871.12:ENST00000307659.6:exon6:c.C500T:p.A167V 4p16.1 C3L-02701 . . . . . . . . . 9.19 D D D D D D L . N 0.119 T T T 0.207 0.172 0.117 0.719 T T T T D D 3.523 24.800 0.999 D N 0.576 5.687 0.617 6.442 1.000 0.732 0.709 0.744 0.684 . 5.560 5.560 4.010 1.026 0.599 1.000 1.000 0.994 681 . . . . KIAA0232 157 0 280 16 0.0540540540540541 TRUE TRUE ENSG00000145244.12 . BCM GRCh38.p13 chr4 47665048 47665048 + G G A Missense_Mutation SNP ENST00000273857.9 exon11 c.C1573T p.H525Y exonic ENSG00000145244.12 . nonsynonymous SNV ENSG00000145244.12:ENST00000273857.9:exon11:c.C1573T:p.H525Y 4p12 C3L-02701 0.0005 0 0.0053 0 0 0 0 0 rs527634306 5.20 T D B B D N N T N 0.226 T T D 0.232 0.813 0.836 0.092 T T T T T T 2.452 22.300 0.346 D D -0.519 1.140 -0.398 1.375 0.005 0.549 0.590 0.547 0.616 . 5.250 4.420 5.115 -0.129 -0.679 1.000 0.036 0.002 448 Frizzled_domain . . . CORIN 118 0 178 15 0.077720207253886 TRUE NA ENSG00000164318.18 . BCM GRCh38.p13 chr5 38418114 38418114 + G G A Missense_Mutation SNP ENST00000354891.7 exon12 c.G1543A p.A515T exonic ENSG00000164318.18 . nonsynonymous SNV ENSG00000164318.18:ENST00000354891.7:exon12:c.G1543A:p.A515T 5p13.1 C3L-02701 8.241e-06 0 0 0 0 0 0 6.058e-05 rs773215630 6.20 T D D P N D L T N 0.310 T T D 0.349 0.461 0.739 0.122 T T T T T D 2.693 22.800 0.999 D N 0.082 2.815 0.053 2.551 1.000 0.554 0.590 0.602 0.613 . 5.780 3.040 2.389 1.172 0.671 0.996 0.974 0.987 878 Laminin_G_domain . . ID=COSV59306350;OCCURENCE=2(lung),1(small_intestine),1(endometrium) EGFLAM 175 0 301 55 0.154494382022472 TRUE TRUE ENSG00000186952.15 . BCM GRCh38.p13 chr5 110568476 110568476 + G G A Nonsense_Mutation SNP ENST00000455884.7 exon11 c.C1426T p.R476X exonic ENSG00000186952.15 . stopgain ENSG00000186952.15:ENST00000455884.7:exon11:c.C1426T:p.R476X 5q22.1 C3L-02701 4.486e-05 0 0 0 0 0 0 0.0001 rs148652027 3.6 . . . . N A . . . 0.357 . . . . . . . . . D D . . 6.170 35 0.962 N N 0.279 3.672 -0.062 2.158 0.000 0.554 0.588 0.618 0.564 . 5.730 2.840 1.224 1.176 0.671 0.098 0.051 0.115 878 . . . ID=COSV70268581;OCCURENCE=1(large_intestine) TMEM232 122 0 179 10 0.0529100529100529 TRUE TRUE ENSG00000111859.17 . BCM GRCh38.p13 chr6 11185190 11185190 + C C T Missense_Mutation SNP ENST00000379446.10 exon7 c.G2477A p.R826H exonic ENSG00000111859.17 . nonsynonymous SNV ENSG00000111859.17:ENST00000379446.10:exon7:c.G2477A:p.R826H 6p24.2 C3L-02701 1.65e-05 0 0 0 0.0003 0 0 0 rs758066091 1.20 T T B B N N N T N 0.049 T T T 0.075 0.351 0.484 0.263 T T T T T D 2.179 20.700 0.996 N N -0.271 1.686 -0.058 2.170 1.000 0.707 0.725 0.609 0.711 . 6.170 5.300 0.258 1.026 0.599 0.521 0.998 0.999 713 CAS_family,_C-terminal . . . NEDD9 186 0 266 31 0.104377104377104 TRUE NA ENSG00000124721.18 . BCM GRCh38.p13 chr6 38909604 38909604 + G G T Missense_Mutation SNP ENST00000359357.7 exon63 c.G8949T p.R2983S exonic ENSG00000124721.18 . nonsynonymous SNV ENSG00000124721.18:ENST00000359357.7:exon63:c.G8949T:p.R2983S 6p21.2 C3L-02701 . . . . . . . . . 7.19 D . B B N D L T D 0.378 T T T 0.077 0.468 0.558 0.144 T T T T D D 2.256 21.300 0.995 D D -0.051 2.334 0.084 2.669 1.000 0.549 0.574 0.574 0.616 . 5.600 5.600 1.237 0.228 0.676 0.983 0.246 0.156 682 Dynein_heavy_chain,_AAA_module_D4 . . . DNAH8 452 0 728 45 0.0582147477360931 TRUE TRUE ENSG00000164418.20 . BCM GRCh38.p13 chr6 101889652 101889652 + G G T Missense_Mutation SNP ENST00000421544.6 exon14 c.G1537T p.A513S exonic ENSG00000164418.20 . nonsynonymous SNV ENSG00000164418.20:ENST00000421544.6:exon14:c.G1537T:p.A513S 6q16.3 C3L-02701 . . . . . . . . . 16.20 D D D D D D M T D 0.832 T T D 0.574 0.915 0.722 2.089 D D D T D D 4.156 28.200 0.998 D D 0.997 13.824 0.958 16.465 1.000 0.554 0.574 0.618 0.564 . 5.600 5.600 10.003 1.176 0.676 1.000 1.000 0.998 916 Ionotropic_glutamate_receptor,_L-glutamate_and_glycine-binding_domain;Ionotropic_glutamate_receptor . . . GRIK2 178 3 252 15 0.0561797752808989 TRUE NA ENSG00000118515.11 . BCM GRCh38.p13 chr6 134172731 134172731 + C C T Missense_Mutation SNP ENST00000237305.11 exon7 c.G593A p.R198Q exonic ENSG00000118515.11 . nonsynonymous SNV ENSG00000118515.11:ENST00000237305.11:exon7:c.G593A:p.R198Q 6q23.2 C3L-02701 8.254e-06 0 0 0 0 0 0 6.078e-05 rs775999779 15.20 D D D D D D N T D 0.721 T T D 0.563 0.660 0.865 1.899 D T D D D D 4.431 31 1.000 D D 0.514 5.144 0.591 6.107 1.000 0.707 0.537 0.725 0.658 . 6.030 5.160 7.905 1.026 0.599 1.000 1.000 0.999 821 Protein_kinase_domain . . . SGK1 287 0 455 41 0.0826612903225806 TRUE TRUE ENSG00000128591.15 . BCM GRCh38.p13 chr7 128850048 128850048 + C C T Missense_Mutation SNP ENST00000325888.12 exon31 c.C5272T p.R1758W exonic ENSG00000128591.15 . nonsynonymous SNV ENSG00000128591.15:ENST00000325888.12:exon31:c.C5272T:p.R1758W 7q32.1 C3L-02701 0.0005 0.0006 0.0015 0 0 0.0001 0 0.0010 rs369187211 5.20 T D B B N D N D N 0.474 T T D 0.296 . 0.571 0.289 T T T T T T 1.918 18.630 0.992 D N -0.568 1.046 -0.462 1.264 1.000 0.707 0.588 0.723 0.714 . 3.720 3.720 1.338 1.026 0.599 0.611 0.534 0.492 587 . . . . FLNC 230 0 412 58 0.123404255319149 TRUE NA ENSG00000137573.14 . BCM GRCh38.p13 chr8 69603260 69603260 + C C A Missense_Mutation SNP ENST00000402687.9 exon11 c.C1130A p.P377H exonic ENSG00000137573.14 . nonsynonymous SNV ENSG00000137573.14:ENST00000402687.9:exon11:c.C1130A:p.P377H 8q13.3 C3L-02701 . . . . . . . . . 19.20 D D D D D D M D D 0.905 D D D 0.718 0.678 0.220 1.076 T D D D D D 3.890 26.300 0.997 D D 1.018 14.482 0.985 17.959 1.000 0.707 0.563 0.616 0.714 . 6.170 6.170 7.905 1.026 0.599 1.000 0.959 0.997 904 . . . ID=COSV52675160;OCCURENCE=1(liver) SULF1 368 1 546 102 0.157407407407407 TRUE TRUE ENSG00000107104.19 . BCM GRCh38.p13 chr9 712624 712624 + T T G Missense_Mutation SNP ENST00000619269.4 exon4 c.T1858G p.L620V exonic ENSG00000107104.19 . nonsynonymous SNV ENSG00000107104.19:ENST00000619269.4:exon4:c.T1858G:p.L620V 9p24.3 C3L-02701 . . . . . . . . . 1.20 T T B B N N M T N 0.114 T T T 0.052 0.147 0.067 . T T T T T T 0.612 7.625 0.903 N N -0.720 0.779 -0.712 0.882 1.000 0.706 0.590 0.710 0.714 . 5.960 -1.690 -0.354 0.196 0.663 0.000 1.000 0.999 728 . . . . KANK1 358 0 456 50 0.0988142292490119 TRUE TRUE ENSG00000178919.9 . BCM GRCh38.p13 chr9 97855022 97855022 + G G A Missense_Mutation SNP ENST00000375123.5 exon1 c.G1108A p.V370M exonic ENSG00000178919.9 . nonsynonymous SNV ENSG00000178919.9:ENST00000375123.5:exon1:c.G1108A:p.V370M 9q22.33 C3L-02701 . . . . . . . . . 12.20 D T D P U D M D N 0.095 D D D 0.418 0.198 0.910 . T T D D D T 3.501 24.700 0.998 D N 0.195 3.282 0.182 3.095 1.000 0.598 0.563 0.607 0.639 . 4.780 3.860 2.682 1.164 0.662 0.998 0.998 0.962 685 . . . ID=COSV100909942;OCCURENCE=1(endometrium) FOXE1 733 1 1073 90 0.0773860705073087 TRUE TRUE ENSG00000184925.12 . BCM GRCh38.p13 chr9 136952382 136952382 + G G A Missense_Mutation SNP ENST00000371633.8 exon1 c.G55A p.A19T exonic ENSG00000184925.12 . nonsynonymous SNV ENSG00000184925.12:ENST00000371633.8:exon1:c.G55A:p.A19T 9q34.3 C3L-02701 . . . . . . . . . 0.20 T T B B N N N T N 0.137 T T T 0.059 0.303 0.175 0.106 T T T T T T 1.555 16.090 0.848 N N -0.988 0.417 -0.947 0.557 0.999 0.554 0.588 0.604 0.613 . 3.880 2.950 1.140 -0.262 0.676 0.002 0.002 0.006 900 . . . . LCN12 330 1 624 60 0.087719298245614 TRUE TRUE ENSG00000263761.3 . BCM GRCh38.p13 chr10 47322756 47322756 + C C T Nonsense_Mutation SNP ENST00000581492.3 exon1 c.C88T p.R30X exonic ENSG00000263761.3 . stopgain ENSG00000263761.3:ENST00000581492.3:exon1:c.C88T:p.R30X 10q11.22 C3L-02701 9.168e-06 0.0001 0 0 0 0 0 0 rs782274691 0.1 . . . . . . . . . 0.379 . . . . . . . . . . . . . 4.885 33 . . N . . . . . . . . . . . . 1.015 1.026 0.599 0.000 0.001 0.019 976 . . . . GDF2 96 0 154 17 0.0994152046783626 TRUE TRUE ENSG00000197901.11 . BCM GRCh38.p13 chr11 62981315 62981315 + T T C Missense_Mutation SNP ENST00000377871.7 exon5 c.A866G p.Q289R exonic ENSG00000197901.11 . nonsynonymous SNV ENSG00000197901.11:ENST00000377871.7:exon5:c.A866G:p.Q289R 11q12.3 C3L-02701 . . . . . . . . . 4.20 T T B B D D N T N 0.288 T T T 0.142 0.593 0.598 0.620 T T T T D T 2.072 19.800 0.804 D N -0.396 1.392 -0.155 1.897 1.000 0.428 0.547 0.547 0.613 . 4.900 4.900 3.212 1.138 0.609 0.940 1.000 0.944 804 Major_facilitator_superfamily_domain . . . SLC22A6 323 0 508 64 0.111888111888112 TRUE TRUE ENSG00000170967.5 . BCM GRCh38.p13 chr11 104037099 104037099 + C C T Missense_Mutation SNP ENST00000302259.5 exon1 c.C277T p.R93C exonic ENSG00000170967.5 . nonsynonymous SNV ENSG00000170967.5:ENST00000302259.5:exon1:c.C277T:p.R93C 11q22.3 C3L-02701 8.261e-06 0 0 0 0 1.504e-05 0 0 rs778186886 7.19 D D D P N N M T D 0.296 T T D 0.099 0.295 0.626 1.186 T T T T D T 2.398 22.100 0.996 N . -0.424 1.332 -0.633 0.998 0.001 0.487 0.574 0.578 0.564 . 4.590 1.600 0.416 -0.273 -0.218 0.000 0.000 0.000 913 . . . ID=COSV56386828;OCCURENCE=2(large_intestine) DDI1 358 0 479 57 0.10634328358209 TRUE TRUE ENSG00000110367.13 . BCM GRCh38.p13 chr11 118756277 118756277 + C C T Missense_Mutation SNP ENST00000534980.7 exon11 c.G1157A p.R386H exonic ENSG00000110367.13 . nonsynonymous SNV ENSG00000110367.13:ENST00000534980.7:exon11:c.G1157A:p.R386H 11q23.3 C3L-02701 . . . . . . . . . 19.20 D D D D D D M T D 0.614 D D D 0.640 0.728 0.851 . D D D D D D 4.603 32 0.999 D D 0.848 9.802 0.869 12.468 1.000 0.719 0.723 0.702 0.714 . 6.060 6.060 7.687 1.009 0.596 1.000 1.000 0.998 516 Helicase,_C-terminal . . . DDX6 220 0 390 25 0.0602409638554217 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02701 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 306 0 460 55 0.106796116504854 TRUE TRUE ENSG00000135503.13 . BCM GRCh38.p13 chr12 51984026 51984026 + T T C Missense_Mutation SNP ENST00000257963.9 exon5 c.T839C p.L280P exonic ENSG00000135503.13 . nonsynonymous SNV ENSG00000135503.13:ENST00000257963.9:exon5:c.T839C:p.L280P 12q13.13 C3L-02701 . . . . . . . . . 19.20 D D D D D D H T D 0.972 D D D 0.892 0.800 0.956 2.666 D D D D D D 4.302 29.600 0.999 D D 1.048 15.505 0.925 14.854 1.000 0.707 0.457 0.725 0.714 . 5.260 5.260 8.014 1.138 0.663 1.000 1.000 0.986 649 Protein_kinase_domain . . . ACVR1B 180 0 329 38 0.103542234332425 TRUE TRUE ENSG00000177169.10 . BCM GRCh38.p13 chr12 131910769 131910769 + G G A Missense_Mutation SNP ENST00000321867.6 exon12 c.G917A p.S306N exonic ENSG00000177169.10 . nonsynonymous SNV ENSG00000177169.10:ENST00000321867.6:exon12:c.G917A:p.S306N 12q24.33 C3L-02701 . . . . . . . . . 12.20 D D D D D D M T N 0.454 T T D 0.142 0.301 0.310 0.171 T T T T D D 3.485 24.700 0.996 D D 0.598 5.902 0.527 5.411 1.000 0.707 0.644 0.723 0.714 . 4.320 4.320 2.800 1.176 0.618 0.153 1.000 0.996 976 . . . . ULK1 371 0 670 46 0.0642458100558659 TRUE TRUE ENSG00000183495.14 . BCM GRCh38.p13 chr12 131961130 131961130 + G G A Missense_Mutation SNP ENST00000389561.7 exon2 c.G511A p.V171M exonic ENSG00000183495.14 . nonsynonymous SNV ENSG00000183495.14:ENST00000389561.7:exon2:c.G511A:p.V171M 12q24.33 C3L-02701 0.0341 0.0069 0.0213 0 0.0338 0.0543 0.0341 0.0014 rs61745448 13.18 D D D P D D M D N 0.854 D D . 0.633 . . 1.342 D . T D T T 3.522 24.800 0.754 D D 0.590 5.825 0.529 5.432 1.000 0.732 0.744 0.744 0.684 . 5.790 4.900 9.473 1.176 0.676 1.000 0.626 0.083 976 E1A-binding_protein_p400,_N-terminal 0.000 Testis;Cells_Cultured_fibroblasts ID=COSV57774473;OCCURENCE=1(stomach) EP400 996 0 1535 121 0.0730676328502416 NA TRUE ENSG00000181619.11 . BCM GRCh38.p13 chr14 59464219 59464219 + C C A Missense_Mutation SNP ENST00000395116.1 exon1 c.G1008T p.M336I exonic ENSG00000181619.11 . nonsynonymous SNV ENSG00000181619.11:ENST00000395116.1:exon1:c.G1008T:p.M336I 14q23.1 C3L-02701 . . . . . . . . . 7.20 T D D P U D L T N 0.595 T T D 0.150 0.474 0.443 . T T T T D T 3.550 24.900 0.995 D D 0.240 3.486 0.291 3.665 1.000 0.443 0.552 0.666 0.568 . 4.310 4.310 3.958 1.026 0.597 1.000 0.998 0.998 783 GPCR,_rhodopsin-like,_7TM . . . GPR135 344 0 496 45 0.0831792975970425 TRUE TRUE ENSG00000066735.14 . BCM GRCh38.p13 chr14 104175154 104175154 + C C T Missense_Mutation SNP ENST00000423312.6 exon12 c.C2366T p.T789M exonic ENSG00000066735.14 . nonsynonymous SNV ENSG00000066735.14:ENST00000423312.6:exon12:c.C2366T:p.T789M 14q32.33 C3L-02701 6.04e-05 0 0 0 0 0.0001 0 0 rs765014920 18.19 D D D D . D M D D 0.550 D D D 0.641 0.258 0.898 0.462 D T D D D D 3.930 26.500 0.999 D D 0.655 6.537 0.564 5.799 1.000 0.696 0.588 0.723 0.605 . 3.890 3.890 7.673 0.943 0.596 1.000 0.998 0.987 557 . . . ID=COSV59466324;OCCURENCE=1(oesophagus),1(large_intestine) KIF26A 315 0 518 53 0.0928196147110333 TRUE TRUE ENSG00000103510.20 . BCM GRCh38.p13 chr16 31130816 31130816 + A A G Missense_Mutation SNP ENST00000219797.9 exon10 c.A1228G p.K410E exonic ENSG00000103510.20 . nonsynonymous SNV ENSG00000103510.20:ENST00000219797.9:exon10:c.A1228G:p.K410E 16p11.2 C3L-02701 . . . . . . . . . 18.19 D D D D D D H . D 0.743 D D D 0.872 0.534 0.608 2.308 D T D D D D 4.313 29.700 0.999 D D 0.912 11.355 0.799 10.087 1.000 0.731 0.744 0.750 0.714 . 5.030 5.030 9.114 1.312 0.756 1.000 1.000 0.998 57 Histone_acetyltransferase_domain,_MYST-type . . . KAT8 271 0 469 51 0.0980769230769231 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674205 7674205 + - NA T Frame_Shift_Ins NA ENST00000269305.8 exon7 c.757dupA p.T253Nfs*11 exonic ENSG00000141510.17 . frameshift insertion ENSG00000141510.17:ENST00000269305.8:exon7:c.757dupA:p.T253Nfs*11 17p13.1 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 NA NA NA NA NA NA NA ENSG00000197046.12 . BCM GRCh38.p13 chr18 45842156 45842156 + G G A Missense_Mutation SNP ENST00000389474.8 exon6 c.G956A p.R319Q exonic ENSG00000197046.12 . nonsynonymous SNV ENSG00000197046.12:ENST00000389474.8:exon6:c.G956A:p.R319Q 18q12.3 C3L-02701 3.295e-05 0 0 0 0 2.997e-05 0 0.0001 rs775151990 0.20 T T B B N N N T N 0.289 T T T 0.014 0.153 0.389 0.551 T T T T T T -0.580 0.081 0.790 N N -1.547 0.068 -1.622 0.069 1.000 0.554 0.547 0.602 0.613 . 4.910 -5.640 -1.206 -1.807 -0.692 0.000 0.000 0.002 977 . . . ID=COSV101248703;OCCURENCE=2(central_nervous_system),1(endometrium) SIGLEC15 288 0 512 44 0.079136690647482 TRUE NA ENSG00000125755.19 . BCM GRCh38.p13 chr19 45816553 45816553 + T T C Missense_Mutation SNP ENST00000245934.12 exon25 c.A3283G p.M1095V exonic ENSG00000125755.19 . nonsynonymous SNV ENSG00000125755.19:ENST00000245934.12:exon25:c.A3283G:p.M1095V 19q13.32 C3L-02701 . . . . . . . . . 8.19 D T B B D D L . N 0.621 T T T 0.200 0.342 0.462 0.047 T T D D D T 2.509 22.400 0.988 D D -0.055 2.320 0.097 2.721 1.000 0.713 0.644 0.522 0.692 . 4.400 4.400 4.993 1.138 0.665 1.000 1.000 0.999 819 . . . . SYMPK 281 0 443 50 0.101419878296146 TRUE TRUE ENSG00000196263.8 . BCM GRCh38.p13 chr19 56524333 56524333 + C C G Missense_Mutation SNP ENST00000308031.10 exon5 c.C266G p.S89C exonic ENSG00000196263.8 . nonsynonymous SNV ENSG00000196263.8:ENST00000308031.10:exon5:c.C266G:p.S89C 19q13.43 C3L-02701 . . . . . . . . . 2.19 T T B B . D M T N 0.237 T T T 0.054 0.465 0.472 0.666 T T T T T T 1.562 16.130 0.673 N N -0.747 0.735 -0.794 0.767 0.000 0.554 0.574 0.602 0.621 . 3.340 1.030 0.109 1.026 0.599 0.000 0.997 0.996 988 . . . . ZNF471 52 0 103 10 0.0884955752212389 TRUE TRUE ENSG00000127903.14 . BCM GRCh38.p13 chr19 56663887 56663887 + G G A Missense_Mutation SNP ENST00000537055.4 exon2 c.C1312T p.R438C exonic ENSG00000127903.14 . nonsynonymous SNV ENSG00000127903.14:ENST00000537055.4:exon2:c.C1312T:p.R438C 19q13.43 C3L-02701 . . . . . . . . . 5.17 D D . . . N M T D 0.372 T T T 0.062 . 0.273 . T T T T D T 2.352 21.900 0.997 N N -0.124 2.101 -0.474 1.244 0.000 0.487 0.574 0.578 0.613 . 2.150 1.040 -1.547 0.929 0.590 0.000 0.144 0.055 988 Zinc_finger_C2H2-type . . . ZNF835 511 0 766 76 0.0902612826603325 TRUE TRUE ENSG00000156282.5 . BCM GRCh38.p13 chr21 30166593 30166593 + C C A Missense_Mutation SNP ENST00000286808.5 exon1 c.G25T p.A9S exonic ENSG00000156282.5 . nonsynonymous SNV ENSG00000156282.5:ENST00000286808.5:exon1:c.G25T:p.A9S 21q21.3 C3L-02701 . . . . . . . . . 6.20 T T B B D N L D N 0.067 T D D 0.211 0.614 0.781 0.054 T T T T D T 2.224 21.000 0.987 D N -0.288 1.643 -0.246 1.679 0.714 0.487 0.574 0.574 0.564 . 5.040 3.240 0.216 1.025 0.599 0.000 0.999 0.998 561 . . . . CLDN17 114 0 191 17 0.0817307692307692 TRUE TRUE ENSG00000171587.15 . BCM GRCh38.p13 chr21 40178990 40178990 + C C T Missense_Mutation SNP ENST00000400454.6 exon15 c.G2884A p.A962T exonic ENSG00000171587.15 . nonsynonymous SNV ENSG00000171587.15:ENST00000400454.6:exon15:c.G2884A:p.A962T 21q22.2 C3L-02701 . . . . . . . . rs917866485 17.20 D D D D D D M T D 0.831 D D D 0.656 0.877 0.879 0.525 T T D D D D 3.907 26.400 0.999 D D 0.684 6.903 0.596 6.171 1.000 0.487 0.574 0.547 0.564 . 4.200 4.200 3.187 1.026 0.599 1.000 1.000 1.000 882 Fibronectin_type_III . . ID=COSV68022517;OCCURENCE=2(large_intestine) DSCAM 567 1 907 71 0.0725971370143149 TRUE TRUE ENSG00000101974.14 . BCM GRCh38.p13 chrX 139798741 139798741 + G G T Missense_Mutation SNP ENST00000327569.7 exon9 c.C722A p.S241Y exonic ENSG00000101974.14 . nonsynonymous SNV ENSG00000101974.14:ENST00000327569.7:exon9:c.C722A:p.S241Y Xq27.1 C3L-02701 . . . . . . . . . 16.19 T D D D D D M D N 0.585 D D D 0.876 0.515 0.922 1.510 T D D D D D 4.111 27.800 0.992 D . . . . . 1.000 . . . . . 5.770 5.770 7.649 1.176 0.676 1.000 1.000 0.997 962 . . . . ATP11C 66 0 95 15 0.136363636363636 TRUE TRUE ENSG00000033050.9 . BCM GRCh38.p13 chr7 151224989 151224989 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000033050.9;ENSG00000285292.1 ENST00000287844.7:exon3:c.155-1G>T;ENST00000222388.6:exon3:c.155-1G>T . . 7q36.1 C3L-02701 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.256 33 0.993 D . 1.070 16.304 0.891 13.373 1.000 0.359 0.340 0.232 0.221 0.983 5.810 5.810 7.058 1.026 0.599 1.000 0.841 0.414 912 . . . . ABCF2 609 0 916 93 0.0921704658077304 TRUE TRUE ENSG00000122952.17 . BCM GRCh38.p13 chr10 56358461 56358461 + T T - Splice_Site SNP NA NA NA NA splicing ENSG00000122952.17 ENST00000373944.8:exon8:c.793-2A>- . . 10q21.1 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZWINT 184 0 258 23 0.0818505338078292 TRUE TRUE ENSG00000214285.3 . BCM GRCh38.p13 chr10 127549488 127549488 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000214285.3 ENST00000398023.3:exon2:c.9-1G>T . . 10q26.2 C3L-02701 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.271 29.300 0.990 D . 1.036 15.083 0.849 11.752 0.990 0.061 0.063 0.063 0.057 0.979 5.720 5.720 6.295 1.176 0.676 1.000 0.085 0.036 615 . . . . NPS 140 0 228 31 0.11969111969112 TRUE TRUE ENSG00000081479.15 . BCM GRCh38.p13 chr2 169137407 169137407 + C C A Silent SNP ENST00000649046.1 exon76 c.G13605T p.V4535V exonic ENSG00000081479.15 . synonymous SNV ENSG00000081479.15:ENST00000649046.1:exon76:c.G13605T:p.V4535V 2q31.1 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP2 455 1 642 136 0.174807197943445 TRUE TRUE ENSG00000163596.16 . BCM GRCh38.p13 chr2 202828878 202828878 + C C T Silent SNP ENST00000617388.4 exon2 c.G132A p.A44A exonic ENSG00000163596.16 . synonymous SNV ENSG00000163596.16:ENST00000617388.4:exon2:c.G132A:p.A44A 2q33.2 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64173336;OCCURENCE=1(large_intestine),1(stomach) ICA1L 226 1 424 28 0.0619469026548673 TRUE TRUE ENSG00000178950.17 . BCM GRCh38.p13 chr4 870865 870865 + C C T Silent SNP ENST00000314167.9 exon19 c.G2094A p.P698P exonic ENSG00000178950.17 . synonymous SNV ENSG00000178950.17:ENST00000314167.9:exon19:c.G2094A:p.P698P 4p16.3 C3L-02701 0.0002 0.0023 8.642e-05 0.0002 0 1.5e-05 0 0 rs146114266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100033452;OCCURENCE=1(stomach) GAK 193 0 336 35 0.0943396226415094 TRUE NA ENSG00000152822.14 . BCM GRCh38.p13 chr6 146304665 146304665 + C C T Silent SNP ENST00000282753.6 exon3 c.C1005T p.N335N exonic ENSG00000152822.14 . synonymous SNV ENSG00000152822.14:ENST00000282753.6:exon3:c.C1005T:p.N335N 6q24.3 C3L-02701 1.658e-05 0 0 0 0 3.011e-05 0 0 rs770979982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51186172;OCCURENCE=1(pancreas) GRM1 409 1 684 58 0.078167115902965 TRUE TRUE ENSG00000248767.2 . BCM GRCh38.p13 chr7 291182 291182 + C C T Silent SNP ENST00000506382.2 exon3 c.C396T p.R132R exonic ENSG00000248767.2 . synonymous SNV ENSG00000248767.2:ENST00000506382.2:exon3:c.C396T:p.R132R 7p22.3 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV72563085;OCCURENCE=1(pancreas) FOXL3 90 0 114 17 0.129770992366412 TRUE NA ENSG00000225968.7 . BCM GRCh38.p13 chr7 1746591 1746591 + C C T Silent SNP ENST00000424383.4 exon3 c.C1995T p.A665A exonic ENSG00000225968.7 . synonymous SNV ENSG00000225968.7:ENST00000424383.4:exon3:c.C1995T:p.A665A 7p22.3 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ELFN1 165 0 192 22 0.102803738317757 TRUE TRUE ENSG00000106327.13 . BCM GRCh38.p13 chr7 100641106 100641106 + G G A Silent SNP ENST00000223051.8 exon2 c.C156T p.C52C exonic ENSG00000106327.13 . synonymous SNV ENSG00000106327.13:ENST00000223051.8:exon2:c.C156T:p.C52C 7q22.1 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TFR2 74 0 92 7 0.0707070707070707 TRUE NA ENSG00000165609.13 . BCM GRCh38.p13 chr10 12167780 12167780 + G G A Silent SNP ENST00000491614.6 exon10 c.C582T p.D194D exonic ENSG00000165609.13 . synonymous SNV ENSG00000165609.13:ENST00000491614.6:exon10:c.C582T:p.D194D 10p14 C3L-02701 8.237e-05 9.61e-05 0 0.0001 0 4.496e-05 0 0.0003 rs376827328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUDT5 407 0 675 49 0.0676795580110497 TRUE NA ENSG00000062650.19 . BCM GRCh38.p13 chr10 86500591 86500591 + T T G Silent SNP ENST00000298767.10 exon3 c.A652C p.R218R exonic ENSG00000062650.19 . synonymous SNV ENSG00000062650.19:ENST00000298767.10:exon3:c.A652C:p.R218R 10q23.2 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WAPL 229 0 353 22 0.0586666666666667 TRUE TRUE ENSG00000223953.6 . BCM GRCh38.p13 chr11 119339643 119339643 + G G A Silent SNP ENST00000528368.3 exon3 c.C420T p.T140T exonic ENSG00000223953.6 . synonymous SNV ENSG00000223953.6:ENST00000528368.3:exon3:c.C420T:p.T140T 11q23.3 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60989870;OCCURENCE=1(large_intestine) C1QTNF5 290 0 470 53 0.101338432122371 TRUE TRUE ENSG00000280090.2 . BCM GRCh38.p13 chr11 124424077 124424077 + G G T Silent SNP ENST00000356130.6 exon1 c.C795A p.G265G exonic ENSG00000280090.2 . synonymous SNV ENSG00000280090.2:ENST00000356130.6:exon1:c.C795A:p.G265G 11q24.2 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR8B4 308 0 497 56 0.10126582278481 TRUE TRUE ENSG00000100767.17 . BCM GRCh38.p13 chr14 73251818 73251818 + G G A Silent SNP ENST00000644200.2 exon9 c.G825A p.S275S exonic ENSG00000100767.17 . synonymous SNV ENSG00000100767.17:ENST00000644200.2:exon9:c.G825A:p.S275S 14q24.2 C3L-02701 0.0011 0.0004 9.81e-05 0 0 0.0019 0 0 rs375078700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAPLN 132 0 204 46 0.184 TRUE NA ENSG00000141526.16 . BCM GRCh38.p13 chr17 82236182 82236182 + C C T Silent SNP ENST00000581287.5 exon1 c.C174T p.S58S exonic ENSG00000141526.16 . synonymous SNV ENSG00000141526.16:ENST00000581287.5:exon1:c.C174T:p.S58S 17q25.3 C3L-02701 5.829e-05 0.0002 8.661e-05 0 0 6.094e-05 0 0 rs368718021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66430036;OCCURENCE=3(large_intestine) SLC16A3 435 0 799 63 0.0730858468677494 TRUE TRUE ENSG00000123143.13 . BCM GRCh38.p13 chr19 14469945 14469945 + C C T Silent SNP ENST00000242783.11 exon18 c.C2250T p.T750T exonic ENSG00000123143.13 . synonymous SNV ENSG00000123143.13:ENST00000242783.11:exon18:c.C2250T:p.T750T 19p13.12 C3L-02701 0.0001 0 0 0 0 1.5e-05 0 0.0007 rs200074602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKN1 172 0 292 16 0.051948051948052 TRUE NA ENSG00000174586.11 . BCM GRCh38.p13 chr19 58357117 58357117 + C C T Silent SNP ENST00000311044.8 exon3 c.G519A p.A173A exonic ENSG00000174586.11 . synonymous SNV ENSG00000174586.11:ENST00000311044.8:exon3:c.G519A:p.A173A 19q13.43 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99568405;OCCURENCE=1(lung),1(endometrium) ZNF497 571 0 837 78 0.0852459016393443 TRUE TRUE ENSG00000184032.3 . BCM GRCh38.p13 chr21 30635320 30635320 + C C T Silent SNP ENST00000330798.3 exon1 c.C57T p.G19G exonic ENSG00000184032.3 . synonymous SNV ENSG00000184032.3:ENST00000330798.3:exon1:c.C57T:p.G19G 21q22.11 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58182517;OCCURENCE=3(large_intestine),1(bone),1(endometrium) KRTAP20-2 512 0 771 78 0.0918727915194346 TRUE TRUE ENSG00000160185.15 . BCM GRCh38.p13 chr21 42447092 42447092 + T T C Silent SNP ENST00000319294.11 exon15 c.T1884C p.N628N exonic ENSG00000160185.15 . synonymous SNV ENSG00000160185.15:ENST00000319294.11:exon15:c.T1884C:p.N628N 21q22.3 C3L-02701 . . . . . . . . rs376352061 0.13 T . . . . N . T N 0.115 T T T 0.028 . 0.110 . . . T T T T 0.592 7.435 0.916 N N -1.057 0.346 -1.091 0.385 0.895 0.554 0.588 0.547 0.613 . 4.460 -2.770 -0.327 -0.208 -0.133 0.116 0.928 0.992 994 . . . . UBASH3A 125 0 252 31 0.109540636042403 TRUE NA ENSG00000196431.4 . BCM GRCh38.p13 chr22 26628290 26628290 + C C T Silent SNP ENST00000354760.4 exon5 c.C303T p.N101N exonic ENSG00000196431.4 . synonymous SNV ENSG00000196431.4:ENST00000354760.4:exon5:c.C303T:p.N101N 22q12.1 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61322740;OCCURENCE=1(skin) CRYBA4 419 1 625 62 0.0902474526928675 TRUE TRUE ENSG00000159307.19 . BCM GRCh38.p13 chr22 43212456 43212456 + G G A Silent SNP ENST00000360835.9 exon17 c.C2190T p.G730G exonic ENSG00000159307.19 . synonymous SNV ENSG00000159307.19:ENST00000360835.9:exon17:c.C2190T:p.G730G 22q13.2 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCUBE1 345 0 535 45 0.0775862068965517 TRUE TRUE ENSG00000089472.16 . BCM GRCh38.p13 chrX 66200697 66200697 + A A G Silent SNP ENST00000343002.6 exon11 c.A2022G p.A674A exonic ENSG00000089472.16 . synonymous SNV ENSG00000089472.16:ENST00000343002.6:exon11:c.A2022G:p.A674A Xq12 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HEPH 198 0 241 46 0.160278745644599 NA TRUE ENSG00000189420.8 . BCM GRCh38.p13 chrX 153421340 153421340 + G G A Silent SNP ENST00000338647.6 exon4 c.G963A p.A321A exonic ENSG00000189420.8 . synonymous SNV ENSG00000189420.8:ENST00000338647.6:exon4:c.G963A:p.A321A Xq28 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFP92 238 0 318 67 0.174025974025974 TRUE TRUE ENSG00000237298.10 . BCM GRCh38.p13 chr2 178751628 178751628 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000237298.10 . . . 2q31.2 C3L-02701 8.277e-06 0 8.691e-05 0 0 0 0 0 rs760734881 5.16 T D D P . D . T N 0.736 T T T 0.281 0.540 0.764 . . . T T T T 2.201 20.900 0.997 D D 0.799 8.765 0.822 10.804 1.000 0.516 0.574 0.574 0.586 . 5.880 5.880 7.981 1.176 0.676 1.000 0.995 0.998 341 . . . . TTN-AS1 176 1 258 21 0.0752688172043011 TRUE NA ENSG00000141096.6 . BCM GRCh38.p13 chr16 67980386 67980386 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000141096.6 ENST00000268793.6:c.-6C>T . . 16q22.1 C3L-02701 . . . . . . . . rs960510134 2.14 D D . . . N . T N 0.079 T T T 0.022 0.209 0.134 1.608 T . T T T . 1.273 14.190 0.937 N N -1.031 0.372 -1.290 0.216 0.996 0.696 0.588 0.692 0.584 . 3.410 -6.320 -0.188 -0.299 -0.139 0.000 0.014 0.003 10 . . . . DPEP3 218 0 357 26 0.0678851174934726 TRUE NA ENSG00000211642.3 . BCM GRCh38.p13 chr22 22215055 22215055 + A A G Intron SNP NA NA NA NA intronic ENSG00000211642.3 . . . 22q11.22 C3L-02701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLV10-54 400 0 580 65 0.10077519379845 TRUE TRUE ENSG00000115896.16 . BCM GRCh38.p13 chr2 197805314 197805314 + C C - Frame_Shift_Del DEL ENST00000428675.6 exon1 c.215delC p.R74Gfs*48 exonic ENSG00000115896.16 . frameshift deletion ENSG00000115896.16:ENST00000428675.6:exon1:c.215delC:p.R74Gfs*48 2q33.1 C3L-00102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCL1 20 0 47 5 0.0961538461538462 TRUE NA ENSG00000012223.13 . BCM GRCh38.p13 chr3 46455879 46455879 + C C T Missense_Mutation SNP ENST00000231751.9 exon4 c.G416A p.R139H exonic ENSG00000012223.13 . nonsynonymous SNV ENSG00000012223.13:ENST00000231751.9:exon4:c.G416A:p.R139H 3p21.31 C3L-00102 7.521e-05 0.0008 8.685e-05 0 0 0 0 0 rs142920270 2.20 D D B B N N L T N 0.217 T T T 0.076 . 0.188 0.086 T T T T T T 0.539 6.909 0.952 N N -1.188 0.235 -1.266 0.232 0.990 0.516 0.590 0.577 0.586 . 4.890 -1.760 0.325 -1.407 -0.818 0.031 0.006 0.053 423 Transferrin-like_domain . . ID=COSV51607039;OCCURENCE=1(endometrium) LTF 119 0 277 22 0.0735785953177258 TRUE TRUE ENSG00000175792.12 . BCM GRCh38.p13 chr3 128098942 128098942 + C C T Missense_Mutation SNP ENST00000322623.10 exon7 c.G757A p.G253R exonic ENSG00000175792.12 . nonsynonymous SNV ENSG00000175792.12:ENST00000322623.10:exon7:c.G757A:p.G253R 3q21.3 C3L-00102 . . . . . . . . . 14.19 D D B P D D M T D 0.934 T T D 0.571 0.730 0.746 1.515 D D D D D . 3.765 25.700 0.998 D D 0.491 4.969 0.558 5.731 1.000 0.722 0.725 0.699 0.714 . 5.750 5.750 7.416 0.980 0.549 1.000 0.360 0.886 763 AAA+_ATPase_domain;TIP49,_C-terminal . . . RUVBL1 239 0 426 31 0.0678336980306346 TRUE TRUE ENSG00000138759.19 . BCM GRCh38.p13 chr4 78481876 78481876 + G G A Missense_Mutation SNP ENST00000512123.4 exon57 c.G8516A p.R2839Q exonic ENSG00000138759.19 . nonsynonymous SNV ENSG00000138759.19:ENST00000512123.4:exon57:c.G8516A:p.R2839Q 4q21.21 C3L-00102 8.281e-06 0 8.639e-05 0 0 0 0 0 rs752028327 8.13 . D . . D D . . . 0.849 T T T 0.298 . 0.776 . T . T D D D 4.801 33 0.999 D D 0.765 8.141 0.763 9.114 1.000 0.707 0.590 0.725 0.568 . 5.570 5.570 9.856 1.146 0.676 1.000 0.945 0.397 901 . . . ID=COSV53587372;OCCURENCE=1(oesophagus) FRAS1 336 0 710 58 0.0755208333333333 TRUE TRUE ENSG00000197826.11 . BCM GRCh38.p13 chr4 80963518 80963518 + C C T Missense_Mutation SNP ENST00000358105.7 exon6 c.C608T p.A203V exonic ENSG00000197826.11 . nonsynonymous SNV ENSG00000197826.11:ENST00000358105.7:exon6:c.C608T:p.A203V 4q21.21 C3L-00102 1.662e-05 0 0 0 0 3.021e-05 0 0 rs200295695 0.18 T T B B N N . T N 0.118 T T T 0.006 0.249 0.014 0.099 . T T T T T -0.874 0.017 0.861 N N -1.306 0.161 -1.389 0.157 0.006 0.487 0.574 0.574 0.564 . 5.520 -4.180 -1.563 -3.159 -3.122 0.000 0.000 0.000 775 . . . . CFAP299 220 0 261 18 0.0645161290322581 TRUE NA ENSG00000039139.9 . BCM GRCh38.p13 chr5 13776525 13776525 + C C T Missense_Mutation SNP ENST00000265104.4 exon55 c.G9287A p.R3096Q exonic ENSG00000039139.9 . nonsynonymous SNV ENSG00000039139.9:ENST00000265104.4:exon55:c.G9287A:p.R3096Q 5p15.2 C3L-00102 . . . . . . . . . 14.19 D . D P D D M T D 0.900 T T D 0.544 . 0.813 0.304 T D D D D D 4.180 28.500 1.000 D D 0.978 13.260 0.943 15.733 1.000 0.554 0.574 0.574 0.621 . 5.970 5.970 7.813 1.026 0.599 1.000 1.000 0.998 687 Dynein_heavy_chain,_AAA_module_D4 . . ID=COSV54203252;OCCURENCE=1(breast),1(liver),2(large_intestine),4(skin),1(lung) DNAH5 296 0 537 36 0.06282722513089 TRUE TRUE ENSG00000113595.15 . BCM GRCh38.p13 chr5 65614151 65614151 + C C T Missense_Mutation SNP ENST00000231524.14 exon3 c.G313A p.G105R exonic ENSG00000113595.15 . nonsynonymous SNV ENSG00000113595.15:ENST00000231524.14:exon3:c.G313A:p.G105R 5q12.3 C3L-00102 . . . . . . . . . 12.20 D D D P D D N T N 0.869 T T D 0.617 0.501 0.744 1.231 T T D D D D 3.368 24.300 0.999 D D 0.622 6.156 0.655 6.988 1.000 0.651 0.709 0.659 0.684 . 5.250 5.250 7.286 1.026 0.549 1.000 0.999 0.996 866 . . . . TRIM23 222 0 410 43 0.0949227373068433 TRUE TRUE ENSG00000204371.11 . BCM GRCh38.p13 chr6 31884393 31884393 + G G A Missense_Mutation SNP ENST00000375537.8 exon21 c.C2770T p.R924W exonic ENSG00000204371.11 . nonsynonymous SNV ENSG00000204371.11:ENST00000375537.8:exon21:c.C2770T:p.R924W 6p21.33 C3L-00102 . . . . . . . . . 18.19 D D D D D D M D D 0.780 D D D 0.656 0.623 0.972 1.047 T D D D D . 4.076 27.600 0.999 D D 0.129 3.002 0.073 2.628 0.528 0.707 0.702 0.725 0.714 . 5.340 2.240 1.912 1.164 0.662 1.000 1.000 0.953 912 Pre-SET_domain . . . EHMT2 43 0 162 10 0.0581395348837209 TRUE TRUE ENSG00000135316.18 . BCM GRCh38.p13 chr6 85619357 85619357 + C C A Missense_Mutation SNP ENST00000369622.8 exon9 c.G1069T p.A357S exonic ENSG00000135316.18 . nonsynonymous SNV ENSG00000135316.18:ENST00000369622.8:exon9:c.G1069T:p.A357S 6q14.3 C3L-00102 . . . . . . . . . 2.20 T T B B N D N T N 0.246 T T T 0.080 0.735 0.277 0.823 T T T T T T 1.611 16.440 0.504 D N -0.313 1.581 -0.143 1.929 1.000 0.672 0.702 0.702 0.711 . 5.190 4.300 1.492 0.074 0.597 0.918 0.998 1.000 720 RNA_recognition_motif_domain . . . SYNCRIP 262 0 324 20 0.0581395348837209 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971165 21971170 + AGCAGC AGCAGC - In_Frame_Del DEL ENST00000304494.9 exon2 c.189_194del p.L64_L65del exonic ENSG00000147889.17 . nonframeshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.189_194del:p.L64_L65del 9p21.3 C3L-00102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 293 0 690 78 0.1015625 NA TRUE ENSG00000172350.10 . BCM GRCh38.p13 chr11 119158587 119158587 + G G A Missense_Mutation SNP ENST00000619701.5 exon11 c.G1198A p.V400M exonic ENSG00000172350.10 . nonsynonymous SNV ENSG00000172350.10:ENST00000619701.5:exon11:c.G1198A:p.V400M 11q23.3 C3L-00102 1.647e-05 0 8.637e-05 0 0 1.498e-05 0 0 rs759324902 5.17 . D D P N N M . . 0.552 T T T 0.336 . 0.638 . T T T T T D 3.552 24.900 0.999 D N 0.352 4.061 0.303 3.733 0.000 0.554 0.590 0.602 0.568 . 5.630 4.710 2.094 1.176 0.676 0.984 0.773 0.616 231 ABC-2_type_transporter . . ID=COSV56644177;OCCURENCE=1(biliary_tract),1(upper_aerodigestive_tract) ABCG4 195 0 394 22 0.0528846153846154 TRUE TRUE ENSG00000172572.6 . BCM GRCh38.p13 chr12 20369450 20369450 + C C T Missense_Mutation SNP ENST00000359062.3 exon1 c.C166T p.R56W exonic ENSG00000172572.6 . nonsynonymous SNV ENSG00000172572.6:ENST00000359062.3:exon1:c.C166T:p.R56W 12p12.2 C3L-00102 . . . . . . . . . 2.20 T T B B N D N T N 0.184 T T D 0.194 0.527 0.703 1.082 T T T T T T 1.991 19.190 0.999 N N -0.481 1.214 -0.366 1.435 1.000 0.455 0.590 0.607 0.250 . 4.540 4.540 0.290 0.127 -0.181 0.247 0.997 0.453 972 . . . . PDE3A 142 0 367 27 0.0685279187817259 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3L-00102 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 325 0 438 50 0.102459016393443 TRUE TRUE ENSG00000137770.14 . BCM GRCh38.p13 chr15 44490894 44490894 + A A C Missense_Mutation SNP ENST00000260327.9 exon5 c.A586C p.N196H exonic ENSG00000137770.14 . nonsynonymous SNV ENSG00000137770.14:ENST00000260327.9:exon5:c.A586C:p.N196H 15q15.3 C3L-00102 . . . . . . . . . 8.20 D T B B D D L T N 0.473 T T D 0.187 0.251 0.426 0.118 T T T T D D 2.784 23.000 0.985 D D -0.072 2.266 0.122 2.825 1.000 0.707 0.725 0.725 0.714 . 4.900 4.900 4.645 1.307 0.751 1.000 1.000 1.000 197 . . . . CTDSPL2 278 0 362 47 0.114914425427873 TRUE TRUE ENSG00000166473.17 . BCM GRCh38.p13 chr16 81207575 81207575 + G G A Missense_Mutation SNP ENST00000337114.8 exon5 c.C821T p.T274M exonic ENSG00000166473.17 . nonsynonymous SNV ENSG00000166473.17:ENST00000337114.8:exon5:c.C821T:p.T274M 16q23.2 C3L-00102 2.487e-05 0.0001 0 0 0 2.999e-05 0 0 rs372674125 2.16 . . B B N N . D N 0.164 T T D 0.114 . 0.230 . T . T T T T 0.979 11.350 0.888 N N -0.783 0.680 -0.869 0.662 0.000 0.487 0.590 0.574 0.542 . 5.250 -3.240 0.075 -0.108 0.676 0.015 0.808 0.662 952 . . . ID=COSV104397628;OCCURENCE=1(large_intestine) PKD1L2 143 1 259 28 0.0975609756097561 TRUE NA ENSG00000170832.13 . BCM GRCh38.p13 chr17 60183308 60183308 + G G A Missense_Mutation SNP ENST00000300896.9 exon31 c.C3980T p.P1327L exonic ENSG00000170832.13 . nonsynonymous SNV ENSG00000170832.13:ENST00000300896.9:exon31:c.C3980T:p.P1327L 17q23.1 C3L-00102 8.237e-06 0 0 0 0 1.498e-05 0 0 rs761651563 3.20 T T B B N D N T N 0.186 T T T 0.080 0.548 0.129 0.565 T T T T T D 2.015 19.370 0.885 D N -0.451 1.274 -0.220 1.739 0.000 0.707 0.654 0.698 0.714 . 5.780 4.800 2.433 1.172 0.672 1.000 1.000 0.996 482 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP32 361 1 646 80 0.110192837465565 NA TRUE ENSG00000179163.11 . BCM GRCh38.p13 chr1 23859796 23859796 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000179163.11 ENST00000374479.3:exon4:c.768+2T>C . . 1p36.11 C3L-00102 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.501 32 0.947 D . 0.870 10.300 0.666 7.165 0.963 0.295 0.304 0.084 0.093 0.733 6.030 3.670 6.994 0.243 0.660 1.000 0.911 0.739 627 . . . . FUCA1 262 0 375 54 0.125874125874126 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673838 7673838 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon8:c.783-1G>T . . 17p13.1 C3L-00102 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.753 32 0.993 D . 0.947 12.324 0.737 8.497 1.000 0.295 0.272 0.343 0.120 0.969 4.820 4.820 7.905 1.022 0.596 1.000 0.054 0.668 432 . . . ID=COSV52668714;OCCURENCE=5(breast),2(oesophagus),3(large_intestine),1(central_nervous_system),4(ovary),2(stomach),1(pancreas),1(skin),12(lung),4(upper_aerodigestive_tract) TP53 630 0 928 100 0.0972762645914397 TRUE TRUE ENSG00000176208.9 . BCM GRCh38.p13 chr17 30887373 30887373 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000176208.9 ENST00000321990.5:exon19:c.4258+1G>A . . 17q11.2 C3L-00102 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.852 33 0.994 D . 1.089 17.045 0.936 15.371 1.000 0.322 0.319 0.084 0.110 0.982 5.680 5.680 7.042 1.140 0.612 1.000 0.350 0.717 855 . . . ID=COSV104639298;OCCURENCE=1(ovary) ATAD5 196 0 246 17 0.064638783269962 TRUE TRUE ENSG00000055070.17 . BCM GRCh38.p13 chr1 16393435 16393435 + G G T Silent SNP ENST00000401088.9 exon3 c.G309T p.L103L exonic ENSG00000055070.17 . synonymous SNV ENSG00000055070.17:ENST00000401088.9:exon3:c.G309T:p.L103L 1p36.13 C3L-00102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SZRD1 200 2 381 49 0.113953488372093 TRUE TRUE ENSG00000158859.10 . BCM GRCh38.p13 chr1 161198175 161198175 + G G A Silent SNP ENST00000367996.6 exon1 c.C453T p.G151G exonic ENSG00000158859.10 . synonymous SNV ENSG00000158859.10:ENST00000367996.6:exon1:c.C453T:p.G151G 1q23.3 C3L-00102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS4 197 0 377 49 0.115023474178404 TRUE NA ENSG00000010327.10 . BCM GRCh38.p13 chr3 52517363 52517363 + C C T Silent SNP ENST00000321725.10 exon43 c.C4533T p.H1511H exonic ENSG00000010327.10 . synonymous SNV ENSG00000010327.10:ENST00000321725.10:exon43:c.C4533T:p.H1511H 3p21.1 C3L-00102 6.14e-05 0 0 0 0 0 0 0.0006 rs572091832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAB1 70 0 136 10 0.0684931506849315 TRUE NA ENSG00000196159.12 . BCM GRCh38.p13 chr4 125490451 125490451 + G G A Silent SNP ENST00000674496.1 exon17 c.G13629A p.P4543P exonic ENSG00000196159.12 . synonymous SNV ENSG00000196159.12:ENST00000674496.1:exon17:c.G13629A:p.P4543P 4q28.1 C3L-00102 6.591e-05 0 0.0002 0 0 5.995e-05 0 0.0001 rs757657669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58671354;OCCURENCE=1(skin),1(prostate) FAT4 289 0 510 60 0.105263157894737 TRUE TRUE ENSG00000174705.13 . BCM GRCh38.p13 chr5 172339431 172339431 + G G A Silent SNP ENST00000311601.6 exon13 c.C1674T p.G558G exonic ENSG00000174705.13 . synonymous SNV ENSG00000174705.13:ENST00000311601.6:exon13:c.C1674T:p.G558G 5q35.1 C3L-00102 3.309e-05 0 0 0.0001 0 0 0 0.0002 rs761047260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SH3PXD2B 145 0 358 22 0.0578947368421053 TRUE NA ENSG00000188162.11 . BCM GRCh38.p13 chr11 17611360 17611360 + C C T Silent SNP ENST00000399391.7 exon35 c.C6096T p.I2032I exonic ENSG00000188162.11 . synonymous SNV ENSG00000188162.11:ENST00000399391.7:exon35:c.C6096T:p.I2032I 11p15.1 C3L-00102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100695766;OCCURENCE=1(stomach) OTOG 98 0 258 28 0.0979020979020979 TRUE NA ENSG00000196557.13 . BCM GRCh38.p13 chr16 1205203 1205203 + C C T Silent SNP ENST00000348261.11 exon11 c.C2541T p.C847C exonic ENSG00000196557.13 . synonymous SNV ENSG00000196557.13:ENST00000348261.11:exon11:c.C2541T:p.C847C 16p13.3 C3L-00102 4.179e-05 0.0001 0 0.0001 0 4.558e-05 0 0 rs201227047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61984094;OCCURENCE=1(stomach) CACNA1H 116 0 222 29 0.115537848605578 TRUE TRUE ENSG00000116731.22 . BCM GRCh38.p13 chr1 13780260 13780260 + A A T Missense_Mutation SNP ENST00000235372.11 exon8 c.A2465T p.Q822L exonic ENSG00000116731.22 . nonsynonymous SNV ENSG00000116731.22:ENST00000235372.11:exon8:c.A2465T:p.Q822L 1p36.21 C3N-01375 . . . . . . . . . 12.20 D D D D D D M T D 0.723 T T T 0.307 0.440 0.405 0.743 T T T T D D 3.926 26.500 0.991 D D 0.808 8.948 0.796 10.010 1.000 0.672 0.702 0.609 0.636 . 5.910 5.910 6.958 1.312 0.756 1.000 0.994 0.995 970 . . . . PRDM2 99 0 119 18 0.131386861313869 TRUE TRUE ENSG00000143819.12 . BCM GRCh38.p13 chr1 225839937 225839937 + G G C Missense_Mutation SNP ENST00000614058.4 exon6 c.G831C p.R277S exonic ENSG00000143819.12 . nonsynonymous SNV ENSG00000143819.12:ENST00000614058.4:exon6:c.G831C:p.R277S 1q42.12 C3N-01375 . . . . . . . . . 2.20 T T B B N N L T N 0.306 T T D 0.073 0.418 0.326 0.229 T T T T T T 0.526 6.769 0.814 N D -1.324 0.152 -1.362 0.171 0.172 0.707 0.694 0.644 0.714 . 5.570 -3.180 -0.445 0.218 -0.181 0.008 0.123 0.031 637 . . . . EPHX1 841 1 1052 145 0.121136173767753 TRUE TRUE ENSG00000115548.17 . BCM GRCh38.p13 chr2 86490987 86490987 + G G A Missense_Mutation SNP ENST00000312912.10 exon24 c.G3680A p.G1227E exonic ENSG00000115548.17 . nonsynonymous SNV ENSG00000115548.17:ENST00000312912.10:exon24:c.G3680A:p.G1227E 2p11.2 C3N-01375 . . . . . . . . . 19.20 D D D D D D M T D 0.951 D D D 0.687 0.806 0.809 2.224 D D D D D D 4.229 28.900 0.998 D D 0.844 9.699 0.819 10.705 1.000 0.707 0.725 0.725 0.714 . 4.890 4.890 10.003 1.176 0.676 1.000 1.000 1.000 500 JmjC_domain . . . KDM3A 173 0 308 18 0.0552147239263804 TRUE TRUE ENSG00000154783.12 . BCM GRCh38.p13 chr3 14821314 14821314 + G G A Missense_Mutation SNP ENST00000285046.10 exon1 c.G2243A p.R748H exonic ENSG00000154783.12 . nonsynonymous SNV ENSG00000154783.12:ENST00000285046.10:exon1:c.G2243A:p.R748H 3p25.1 C3N-01375 2.487e-05 0 0 0 0 3e-05 0 6.056e-05 rs761640697 15.20 D D D D D D M T D 0.530 D D D 0.434 0.244 0.807 0.742 T T T T D D 3.772 25.700 1.000 D D 0.839 9.587 0.806 10.314 1.000 0.722 0.590 0.710 0.735 . 5.030 5.030 9.246 1.121 0.618 1.000 0.985 0.934 923 . . . ID=COSV53238120;OCCURENCE=2(large_intestine),1(haematopoietic_and_lymphoid_tissue) FGD5 213 0 269 34 0.112211221122112 TRUE TRUE ENSG00000163071.11 . BCM GRCh38.p13 chr4 52072014 52072014 + C C T Missense_Mutation SNP ENST00000295213.9 exon6 c.C616T p.R206W exonic ENSG00000163071.11 . nonsynonymous SNV ENSG00000163071.11:ENST00000295213.9:exon6:c.C616T:p.R206W 4q12 C3N-01375 . . . . . . . . rs752171868 7.20 D D D B N N M D D 0.140 T D T 0.241 0.203 0.231 0.161 T T T T T T 1.006 11.700 0.951 N N -0.754 0.724 -0.972 0.524 0.001 0.615 0.588 0.659 0.595 . 4.170 -2.300 -0.060 -2.805 -1.229 0.000 0.000 0.000 . . . . ID=COSV104401127;OCCURENCE=1(large_intestine) SPATA18 428 0 613 65 0.0958702064896755 TRUE NA ENSG00000164161.10 . BCM GRCh38.p13 chr4 144646763 144646763 + G G A Missense_Mutation SNP ENST00000296575.8 exon1 c.G88A p.E30K exonic ENSG00000164161.10 . nonsynonymous SNV ENSG00000164161.10:ENST00000296575.8:exon1:c.G88A:p.E30K 4q31.21 C3N-01375 . . . . . . . . . 11.20 D D D D D D L T N 0.340 T T D 0.194 0.187 0.375 0.835 T T T T D D 4.437 31 0.999 D D 0.628 6.218 0.653 6.949 1.000 0.564 0.492 0.504 0.562 . 5.220 5.220 7.230 1.176 0.618 1.000 0.984 0.964 877 . . . ID=COSV56839107;OCCURENCE=2(skin) HHIP 261 0 383 41 0.0966981132075472 TRUE TRUE ENSG00000164588.8 . BCM GRCh38.p13 chr5 45262108 45262108 + G G A Missense_Mutation SNP ENST00000303230.6 exon8 c.C2486T p.A829V exonic ENSG00000164588.8 . nonsynonymous SNV ENSG00000164588.8:ENST00000303230.6:exon8:c.C2486T:p.A829V 5p12 C3N-01375 . . . . . . . . . 10.20 D D B B N N L D N 0.016 D D D 0.264 0.266 0.590 0.382 T T D T D T 2.436 22.200 0.996 D D -0.219 1.823 -0.125 1.978 0.956 0.615 0.574 0.659 0.564 . 4.880 4.880 4.399 1.176 0.676 0.976 0.969 0.925 427 . . . . HCN1 127 0 233 31 0.117424242424242 TRUE TRUE ENSG00000112893.9 . BCM GRCh38.p13 chr5 109774846 109774848 + CTC CTC - In_Frame_Del DEL ENST00000261483.4 exon8 c.1255_1257del p.L420del exonic ENSG00000112893.9 . nonframeshift deletion ENSG00000112893.9:ENST00000261483.4:exon8:c.1255_1257del:p.L420del 5q21.3 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAN2A1 348 1 486 52 0.0966542750929368 TRUE TRUE ENSG00000069018.19 . BCM GRCh38.p13 chr5 136247501 136247501 + C C T Missense_Mutation SNP ENST00000513104.6 exon7 c.G1814A p.R605Q exonic ENSG00000069018.19 . nonsynonymous SNV ENSG00000069018.19:ENST00000513104.6:exon7:c.G1814A:p.R605Q 5q31.1 C3N-01375 5.018e-05 0.0001 0 0 0 7.529e-05 0 0 rs760900591 11.19 T . B B D D L D N 0.442 D D D 0.531 . 0.858 0.936 T D T D T D 2.492 22.400 0.999 D D 0.117 2.956 0.268 3.537 0.653 0.497 0.590 0.547 0.530 . 5.440 4.510 5.553 1.026 0.549 1.000 0.999 0.996 692 Ion_transport_domain . . ID=COSV61461327;OCCURENCE=2(skin) TRPC7 113 0 150 12 0.0740740740740741 TRUE TRUE ENSG00000137266.14 . BCM GRCh38.p13 chr6 3273377 3273377 + C C T Missense_Mutation SNP ENST00000406686.7 exon10 c.G1739A p.G580D exonic ENSG00000137266.14 . nonsynonymous SNV ENSG00000137266.14:ENST00000406686.7:exon10:c.G1739A:p.G580D 6p25.2 C3N-01375 . . . . . . . . . 15.20 T D D D D D M T D 0.932 T T D 0.609 0.602 0.806 1.192 D T D D D D 3.876 26.200 0.999 D D 0.580 5.723 0.612 6.382 1.000 0.650 0.520 0.607 0.509 . 5.410 5.410 7.436 1.026 0.599 1.000 0.942 0.983 851 Major_facilitator_superfamily_domain . . ID=COSV100978465;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) SLC22A23 248 0 495 53 0.0967153284671533 TRUE TRUE ENSG00000137411.18 . BCM GRCh38.p13 chr6 30918835 30918835 + G G T Missense_Mutation SNP ENST00000321897.9 exon10 c.G994T p.V332F exonic ENSG00000137411.18 . nonsynonymous SNV ENSG00000137411.18:ENST00000321897.9:exon10:c.G994T:p.V332F 6p21.33 C3N-01375 . . . . . . . . . 9.20 D D P B N D M T D 0.796 T T D 0.201 0.593 0.450 1.295 T T T T D D 3.390 24.400 0.996 D N 0.046 2.679 -0.015 2.309 0.948 0.707 0.725 0.725 0.714 . 4.540 1.200 0.984 0.180 0.676 1.000 0.988 0.982 917 Aminoacyl-tRNA_synthetase,_class_Ia . . . VARS2 188 0 323 47 0.127027027027027 TRUE TRUE ENSG00000002933.9 . BCM GRCh38.p13 chr7 150804836 150804836 + C C T Nonsense_Mutation SNP ENST00000004103.8 exon7 c.C676T p.Q226X exonic ENSG00000002933.9 . stopgain ENSG00000002933.9:ENST00000004103.8:exon7:c.C676T:p.Q226X 7q36.1 C3N-01375 . . . . . . . . . 3.6 . . . . N D . . . 0.102 . . . . . . . . . D D . . 4.987 33 0.876 N N -0.364 1.463 -0.758 0.817 0.609 0.516 0.590 0.577 0.530 . 3.880 -2.180 -1.476 -2.352 -0.839 0.000 0.003 0.019 769 . . . . TMEM176A 189 1 311 29 0.0852941176470588 TRUE TRUE ENSG00000186350.12 . BCM GRCh38.p13 chr9 134421695 134421695 + A A C Missense_Mutation SNP ENST00000481739.2 exon6 c.A800C p.N267T exonic ENSG00000186350.12 . nonsynonymous SNV ENSG00000186350.12:ENST00000481739.2:exon6:c.A800C:p.N267T 9q34.2 C3N-01375 . . . . . . . . . 16.20 D D P B D D L D D 0.749 D D D 0.689 0.411 0.900 1.667 T D D D D D 3.086 23.600 0.993 D D 0.157 3.118 0.253 3.455 1.000 0.672 0.702 0.723 0.711 . 4.510 4.510 8.891 1.309 0.689 1.000 0.999 0.840 784 Nuclear_hormone_receptor,_ligand-binding_domain . . . RXRA 30 0 59 9 0.132352941176471 TRUE TRUE ENSG00000176978.14 . BCM GRCh38.p13 chr9 137110920 137110920 + C C T Missense_Mutation SNP ENST00000371579.7 exon12 c.G1303A p.A435T exonic ENSG00000176978.14 . nonsynonymous SNV ENSG00000176978.14:ENST00000371579.7:exon12:c.G1303A:p.A435T 9q34.3 C3N-01375 8.697e-06 0 0 0.0001 0 0 0 0 rs770245778 11.20 D T D P D N M D D 0.571 D D D 0.472 0.713 0.909 0.299 T T T T D T 2.906 23.200 0.997 D N 0.179 3.213 0.037 2.490 1.000 0.707 0.698 0.723 0.714 . 4.720 3.710 0.918 0.958 0.520 0.474 0.003 0.008 988 . . . . DPP7 265 0 394 35 0.0815850815850816 TRUE NA ENSG00000107897.19 . BCM GRCh38.p13 chr10 27218096 27218096 + T T C Missense_Mutation SNP ENST00000375888.5 exon7 c.A740G p.D247G exonic ENSG00000107897.19 . nonsynonymous SNV ENSG00000107897.19:ENST00000375888.5:exon7:c.A740G:p.D247G 10p12.1 C3N-01375 . . . . . . . . . 3.20 T T B B N N L D N 0.211 T T D 0.076 0.402 0.633 0.147 T T T T T T 2.382 22.000 0.759 D N -0.668 0.867 -0.536 1.145 0.014 0.706 0.725 0.710 0.714 . 4.680 2.380 2.315 1.138 0.603 0.983 1.000 0.978 744 . . . . ACBD5 233 1 676 65 0.087719298245614 TRUE TRUE ENSG00000165323.15 . BCM GRCh38.p13 chr11 92800406 92800406 + T T C Missense_Mutation SNP ENST00000409404.6 exon9 c.T7393C p.Y2465H exonic ENSG00000165323.15 . nonsynonymous SNV ENSG00000165323.15:ENST00000409404.6:exon9:c.T7393C:p.Y2465H 11q14.3 C3N-01375 . . . . . . . . . 5.15 D . . . . N M T D 0.525 T T T 0.352 0.728 0.303 . T T T T D . 3.741 25.600 0.998 D N 0.167 3.160 0.264 3.512 0.275 0.615 0.574 0.659 0.621 . 5.950 4.830 4.067 1.138 0.665 1.000 0.999 0.987 906 Cadherin-like . . . FAT3 301 0 362 30 0.076530612244898 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-01375 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 289 0 471 55 0.104562737642586 TRUE TRUE ENSG00000170486.11 . BCM GRCh38.p13 chr12 52591598 52591598 + C C T Missense_Mutation SNP ENST00000293745.7 exon5 c.G829A p.D277N exonic ENSG00000170486.11 . nonsynonymous SNV ENSG00000170486.11:ENST00000293745.7:exon5:c.G829A:p.D277N 12q13.13 C3N-01375 0.0001 0 0.0008 0.0001 0.0002 4.508e-05 0 0 rs548680308 11.20 D T P B D D M D D 0.373 D D D 0.393 0.593 0.760 0.316 T T T T D T 2.846 23.100 0.999 D N 0.384 4.244 0.349 4.016 0.754 0.497 0.590 0.547 0.542 . 4.220 4.220 4.830 0.074 0.596 1.000 0.020 0.457 835 Intermediate_filament,_rod_domain . . ID=COSV53374596;OCCURENCE=3(oesophagus) KRT72 89 0 109 37 0.253424657534247 TRUE TRUE ENSG00000068650.18 . BCM GRCh38.p13 chr13 112826845 112826845 + A A G Missense_Mutation SNP ENST00000487903.5 exon12 c.A1175G p.E392G exonic ENSG00000068650.18 . nonsynonymous SNV ENSG00000068650.18:ENST00000487903.5:exon12:c.A1175G:p.E392G 13q34 C3N-01375 . . . . . . . . . 13.20 D D B B D D M T D 0.673 T T D 0.447 0.481 0.524 0.415 T T D D D D 3.595 25.000 0.997 D D 0.203 3.317 0.186 3.118 1.000 0.707 0.725 0.725 0.714 . 5.400 5.400 8.838 1.278 0.756 1.000 0.598 0.815 994 . . . . ATP11A 347 0 642 62 0.0880681818181818 TRUE TRUE ENSG00000197324.9 . BCM GRCh38.p13 chr14 22875604 22875604 + C C T Missense_Mutation SNP ENST00000359591.9 exon5 c.C656T p.S219F exonic ENSG00000197324.9 . nonsynonymous SNV ENSG00000197324.9:ENST00000359591.9:exon5:c.C656T:p.S219F 14q11.2 C3N-01375 . . . . . . . . . 2.20 D D B B N N L T N 0.256 T T T 0.072 0.537 0.275 0.269 T T T T T T 1.449 15.410 0.997 N N -0.584 1.017 -0.456 1.275 1.000 0.706 0.698 0.710 0.714 . 5.730 3.910 0.543 0.129 -0.182 0.032 0.998 0.980 801 CUB_domain . . . LRP10 149 0 293 61 0.172316384180791 TRUE TRUE ENSG00000137812.20 . BCM GRCh38.p13 chr15 40622053 40622053 + A A T Missense_Mutation SNP ENST00000346991.9 exon11 c.A1867T p.S623C exonic ENSG00000137812.20 . nonsynonymous SNV ENSG00000137812.20:ENST00000346991.9:exon11:c.A1867T:p.S623C 15q15.1 C3N-01375 . . . . . . . . . 2.19 D D B B N N . T N 0.157 T T T 0.046 0.131 0.154 0.038 T T T T T T 1.047 12.200 0.719 N N -0.983 0.422 -0.960 0.539 0.048 0.719 0.654 0.651 0.734 . 4.840 2.530 0.811 1.312 0.756 0.003 0.630 0.117 465 . . . . KNL1 55 0 169 17 0.0913978494623656 TRUE TRUE ENSG00000196557.13 . BCM GRCh38.p13 chr16 1201733 1201733 + G G A Missense_Mutation SNP ENST00000348261.11 exon9 c.G1283A p.R428Q exonic ENSG00000196557.13 . nonsynonymous SNV ENSG00000196557.13:ENST00000348261.11:exon9:c.G1283A:p.R428Q 16p13.3 C3N-01375 . . . . . . . . . 18.20 D D D D N D M D D 0.597 D D D 0.636 0.266 0.943 . T D D D D D 4.254 29.200 0.999 D D 0.704 7.176 0.564 5.796 1.000 0.696 0.547 0.723 0.563 . 3.860 3.860 9.708 1.073 0.665 1.000 0.975 0.965 940 Ion_transport_domain . . . CACNA1H 193 0 305 34 0.100294985250737 TRUE NA ENSG00000132510.10 . BCM GRCh38.p13 chr17 7847118 7847118 + C C T Missense_Mutation SNP ENST00000448097.6 exon10 c.C923T p.S308L exonic ENSG00000132510.10 . nonsynonymous SNV ENSG00000132510.10:ENST00000448097.6:exon10:c.C923T:p.S308L 17p13.1 C3N-01375 0.0272 0.0024 0.1019 0.1759 0.0005 0.0035 0.0123 0.0169 rs2270516 2.19 D T B B N P L T N 0.098 T T . 0.039 . . 0.102 T T T T T T 2.400 22.100 0.969 D N -0.270 1.690 -0.072 2.128 0.960 0.672 0.702 0.723 0.636 . 5.360 4.390 1.362 1.022 0.596 0.422 0.997 0.997 298 . . . ID=COSV54678248;OCCURENCE=4(meninges),2(soft_tissue),2(lung) KDM6B 333 0 518 51 0.0896309314586995 TRUE TRUE ENSG00000141401.12 . BCM GRCh38.p13 chr18 12028094 12028094 + C C T Missense_Mutation SNP ENST00000269159.8 exon6 c.C542T p.A181V exonic ENSG00000141401.12 . nonsynonymous SNV ENSG00000141401.12:ENST00000269159.8:exon6:c.C542T:p.A181V 18p11.21 C3N-01375 2.471e-05 0 0 0.0002 0 1.499e-05 0 0 rs369840633 2.20 D T B B D N L T N 0.205 T T T 0.073 0.482 0.402 0.478 T T T T T T 2.347 21.800 0.990 N N -0.616 0.958 -0.594 1.055 1.000 0.732 0.670 0.744 0.655 . 5.840 2.680 0.978 0.073 0.599 0.533 0.100 0.567 895 . . . . IMPA2 152 0 252 21 0.0769230769230769 TRUE NA ENSG00000180777.14 . BCM GRCh38.p13 chr18 14777988 14777988 + A A T Missense_Mutation SNP ENST00000358984.9 exon10 c.A1333T p.I445F exonic ENSG00000180777.14 . nonsynonymous SNV ENSG00000180777.14:ENST00000358984.9:exon10:c.A1333T:p.I445F 18p11.21 C3N-01375 . . . . . . . . . 0.17 T T . . . N N T N 0.052 T T T 0.010 0.390 0.076 0.144 T T T T T T -0.474 0.135 0.508 N N -1.276 0.178 -1.357 0.174 0.000 0.487 0.574 0.547 0.564 . 1.220 -1.740 -0.585 -0.931 -1.761 0.006 0.000 0.000 929 . . . . ANKRD30B 80 0 151 14 0.0848484848484849 TRUE TRUE ENSG00000185453.13 . BCM GRCh38.p13 chr19 48195574 48195574 + G G C Missense_Mutation SNP ENST00000328759.11 exon4 c.G1510C p.D504H exonic ENSG00000185453.13 . nonsynonymous SNV ENSG00000185453.13:ENST00000328759.11:exon4:c.G1510C:p.D504H 19q13.33 C3N-01375 . . . . . . . . . 2.17 D D P B N N . . N 0.181 T T T 0.020 0.291 0.048 . . T T T T T 1.981 19.110 0.986 N N -0.503 1.171 -0.667 0.948 0.047 0.635 0.644 0.723 0.700 . 3.240 2.180 1.017 1.176 0.676 0.160 0.031 0.022 856 . . . . ZSWIM9 9 0 15 5 0.25 TRUE NA ENSG00000169933.15 . BCM GRCh38.p13 chrX 12716701 12716701 + G G A Missense_Mutation SNP ENST00000380682.5 exon15 c.G2242A p.A748T exonic ENSG00000169933.15 . nonsynonymous SNV ENSG00000169933.15:ENST00000380682.5:exon15:c.G2242A:p.A748T Xp22.2 C3N-01375 . . . . . . . . . 8.19 D T D B D D L T N 0.387 T T D 0.188 0.232 0.419 0.358 T T T T D D 2.619 22.700 0.996 D . . . . . 1.000 . . . . . 5.560 5.560 9.366 1.157 0.654 1.000 0.892 0.424 728 . . . ID=COSV66215158;OCCURENCE=1(oesophagus),2(large_intestine),1(stomach) FRMPD4 239 1 430 54 0.111570247933884 TRUE TRUE ENSG00000182872.16 . BCM GRCh38.p13 chrX 47179478 47179478 + C C - Nonsense_Mutation SNP ENST00000377604.8 exon9 c.884delC p.S295* exonic ENSG00000182872.16 . stopgain ENSG00000182872.16:ENST00000377604.8:exon9:c.884delC:p.S295* Xp11.3 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM10 359 0 419 47 0.100858369098712 TRUE TRUE ENSG00000102057.10 . BCM GRCh38.p13 chrX 48969505 48969505 + C C T Missense_Mutation SNP ENST00000218176.4 exon1 c.G767A p.R256H exonic ENSG00000102057.10 . nonsynonymous SNV ENSG00000102057.10:ENST00000218176.4:exon1:c.G767A:p.R256H Xp11.23 C3N-01375 1.284e-05 0 0 0 0 2.347e-05 0 0 rs782327672 18.19 D D D D D D M D D 0.643 D D D 0.869 0.683 0.936 2.130 T D D D D D 3.746 25.600 1.000 D . . . . . 1.000 . . . . . 5.450 5.450 5.025 1.026 0.599 1.000 0.997 0.996 40 Ion_transport_domain . . . KCND1 253 0 357 50 0.122850122850123 TRUE NA ENSG00000196998.19 . BCM GRCh38.p13 chrX 49075904 49075904 + C C G Missense_Mutation SNP ENST00000376358.4 exon4 c.G172C p.V58L exonic ENSG00000196998.19;ENSG00000288053.1 . nonsynonymous SNV ENSG00000288053.1:ENST00000376358.4:exon4:c.G172C:p.V58L,ENSG00000196998.19:ENST00000376372.9:exon7:c.G478C:p.V160L Xp11.23 C3N-01375 . . . . . . . . . 10.19 D D B B U D M T D 0.535 T T D 0.158 0.551 0.931 0.634 D T T T D D 1.809 17.800 0.991 D . . . . . 1.000 . . . . . 3.760 3.760 5.685 1.018 0.539 1.000 0.993 0.979 13 . . . . WDR45 239 0 335 33 0.0896739130434783 TRUE TRUE ENSG00000183862.5 . BCM GRCh38.p13 chrX 151743565 151743565 + C C - Frame_Shift_Del DEL ENST00000329903.4 exon6 c.1062delC p.F355Lfs*4 exonic ENSG00000183862.5 . frameshift deletion ENSG00000183862.5:ENST00000329903.4:exon6:c.1062delC:p.F355Lfs*4 Xq28 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNGA2 185 0 265 31 0.10472972972973 TRUE TRUE ENSG00000130822.16 . BCM GRCh38.p13 chrX 153670503 153670503 + C C T Missense_Mutation SNP ENST00000340888.8 exon11 c.G986A p.R329H exonic ENSG00000130822.16 . nonsynonymous SNV ENSG00000130822.16:ENST00000340888.8:exon11:c.G986A:p.R329H Xq28 C3N-01375 1.399e-05 0 0 0 0 0 0 0.0001 rs782492056 3.19 D D B B N N L T N 0.122 T T D 0.036 0.223 0.796 0.682 T T T T T T 1.609 16.430 0.983 N . . . . . 0.994 . . . . . 3.730 1.920 -0.074 0.129 -0.202 0.000 0.173 0.054 23 . . . . PNCK 280 0 655 71 0.0977961432506887 TRUE NA ENSG00000080815.19 . BCM GRCh38.p13 chr14 73198130 73198133 + GTAA GTAA - Splice_Site DEL NA NA NA NA splicing ENSG00000080815.19 . . . 14q24.2 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSEN1 244 0 278 45 0.139318885448916 TRUE TRUE ENSG00000120278.16 . BCM GRCh38.p13 chr6 150809440 150809440 + C C T Silent SNP ENST00000358517.6 exon9 c.C1155T p.F385F exonic ENSG00000120278.16 . synonymous SNV ENSG00000120278.16:ENST00000358517.6:exon9:c.C1155T:p.F385F 6q25.1 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHG1 227 0 299 32 0.0966767371601208 TRUE TRUE ENSG00000171316.12 . BCM GRCh38.p13 chr8 60801590 60801590 + G G A Silent SNP ENST00000423902.7 exon6 c.G2439A p.K813K exonic ENSG00000171316.12 . synonymous SNV ENSG00000171316.12:ENST00000423902.7:exon6:c.G2439A:p.K813K 8q12.2 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD7 95 0 249 34 0.120141342756184 TRUE NA ENSG00000137098.14 . BCM GRCh38.p13 chr9 35810264 35810264 + T T G Silent SNP ENST00000396638.7 exon6 c.A1246C p.R416R exonic ENSG00000137098.14 . synonymous SNV ENSG00000137098.14:ENST00000396638.7:exon6:c.A1246C:p.R416R 9p13.3 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPAG8 201 0 285 34 0.106583072100313 TRUE TRUE ENSG00000130559.19 . BCM GRCh38.p13 chr9 135821613 135821613 + G G A Silent SNP ENST00000389532.9 exon11 c.C3048T p.D1016D exonic ENSG00000130559.19 . synonymous SNV ENSG00000130559.19:ENST00000389532.9:exon11:c.C3048T:p.D1016D 9q34.3 C3N-01375 0.0018 0.0002 0.0003 0.0054 0 1.5e-05 0.0022 0.0099 rs117165081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMSAP1 163 0 249 40 0.13840830449827 TRUE NA ENSG00000120659.15 . BCM GRCh38.p13 chr13 42600884 42600884 + G G A Silent SNP ENST00000398795.7 exon4 c.G435A p.A145A exonic ENSG00000120659.15 . synonymous SNV ENSG00000120659.15:ENST00000398795.7:exon4:c.G435A:p.A145A 13q14.11 C3N-01375 8.239e-05 0 0 0.0007 0 4.496e-05 0 6.057e-05 rs775866494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53480184;OCCURENCE=1(large_intestine) TNFSF11 520 0 962 94 0.0890151515151515 TRUE TRUE ENSG00000176153.12 . BCM GRCh38.p13 chr14 64939554 64939554 + G G - Unknown SNP NA NA NA NA exonic ENSG00000176153.12 . unknown UNKNOWN 14q23.3 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPX2 270 0 317 52 0.140921409214092 TRUE TRUE ENSG00000152467.10 . BCM GRCh38.p13 chr19 58052492 58052492 + G G A Silent SNP ENST00000282326.6 exon5 c.G468A p.A156A exonic ENSG00000152467.10 . synonymous SNV ENSG00000152467.10:ENST00000282326.6:exon5:c.G468A:p.A156A 19q13.43 C3N-01375 3.314e-05 0 0 0 0 4.536e-05 0 6.059e-05 rs781127290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56609495;OCCURENCE=1(biliary_tract),1(stomach) ZSCAN1 240 0 400 36 0.0825688073394495 TRUE TRUE ENSG00000196562.14 . BCM GRCh38.p13 chr20 47665935 47665935 + G G A Silent SNP ENST00000359930.8 exon13 c.C1824T p.N608N exonic ENSG00000196562.14 . synonymous SNV ENSG00000196562.14:ENST00000359930.8:exon13:c.C1824T:p.N608N 20q13.12 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63415168;OCCURENCE=2(liver),1(prostate),1(endometrium) SULF2 246 0 303 33 0.0982142857142857 TRUE TRUE ENSG00000230612.3 . BCM GRCh38.p13 chr5 132706456 132706456 + T T G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000230612.3 . . . 5q31.1 C3N-01375 . . . . . . . . . 8.17 D T P P . D . T N 0.426 T T D 0.190 0.225 0.832 . . T D D D T 3.246 24.000 0.984 D D 0.333 3.955 0.431 4.584 1.000 0.638 0.588 0.653 0.568 . 5.440 5.440 6.169 1.118 0.665 1.000 1.000 0.999 868 . . . . AC004039.1 103 0 252 14 0.0526315789473684 TRUE TRUE ENSG00000230969.2 . BCM GRCh38.p13 chr17 16988983 16988983 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000230969.2 . . . 17p11.2 C3N-01375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02090 256 1 378 32 0.0780487804878049 TRUE NA ENSG00000179163.11 . BCM GRCh38.p13 chr1 23854398 23854398 + C C G Missense_Mutation SNP ENST00000374479.3 exon5 c.G931C p.A311P exonic ENSG00000179163.11 . nonsynonymous SNV ENSG00000179163.11:ENST00000374479.3:exon5:c.G931C:p.A311P 1p36.11 C3N-03884 . . . . . . . . . 0.20 T T B B N N N T N 0.241 T T T 0.040 0.374 0.228 0.534 T T T T T T 0.465 6.133 0.622 N N -1.424 0.107 -1.416 0.144 0.000 0.706 0.725 0.710 0.700 . 4.770 -2.500 0.119 -0.221 -0.187 0.013 0.050 0.284 623 . . . . FUCA1 314 0 515 61 0.105902777777778 TRUE TRUE ENSG00000198198.17 . BCM GRCh38.p13 chr1 43437200 43437200 + C C T Missense_Mutation SNP ENST00000634258.3 exon43 c.C6064T p.R2022C exonic ENSG00000198198.17 . nonsynonymous SNV ENSG00000198198.17:ENST00000634258.3:exon43:c.C6064T:p.R2022C 1p34.2 C3N-03884 2.472e-05 0 8.637e-05 0 0 2.998e-05 0 0 rs766797004 14.19 D D D D D D M . D 0.588 T T T 0.233 0.399 0.378 1.096 D T D D D D 4.080 27.600 0.997 D N 0.596 5.888 0.607 6.313 1.000 0.672 0.702 0.602 0.636 . 5.860 5.860 2.369 1.026 0.599 1.000 0.534 0.407 776 . . . ID=COSV65174056;OCCURENCE=1(skin) SZT2 187 0 321 53 0.141711229946524 TRUE TRUE ENSG00000054392.13 . BCM GRCh38.p13 chr1 210674363 210674363 + C C T Missense_Mutation SNP ENST00000261458.8 exon12 c.C1466T p.T489I exonic ENSG00000054392.13 . nonsynonymous SNV ENSG00000054392.13:ENST00000261458.8:exon12:c.C1466T:p.T489I 1q32.2 C3N-03884 1.65e-05 0 0 0 0.0002 1.5e-05 0 0 rs770356363 6.19 D D D P . N L T N 0.420 T T T 0.191 0.313 0.478 0.432 T T D T D T 3.207 23.900 0.999 D N 0.508 5.097 0.509 5.238 0.739 0.638 0.670 0.574 0.621 . 5.510 5.510 2.455 1.026 0.599 0.973 0.761 0.639 940 . . . . HHAT 202 0 377 42 0.100238663484487 TRUE NA ENSG00000091513.16 . BCM GRCh38.p13 chr3 133759184 133759184 + C C - Frame_Shift_Del DEL ENST00000402696.9 exon9 c.1058delC p.P354Qfs*8 exonic ENSG00000091513.16 . frameshift deletion ENSG00000091513.16:ENST00000402696.9:exon9:c.1058delC:p.P354Qfs*8 3q22.1 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TF 547 2 740 75 0.0920245398773006 TRUE TRUE ENSG00000109436.8 . BCM GRCh38.p13 chr4 140622521 140622521 + C C T Missense_Mutation SNP ENST00000442267.3 exon21 c.G3475A p.D1159N exonic ENSG00000109436.8 . nonsynonymous SNV ENSG00000109436.8:ENST00000442267.3:exon21:c.G3475A:p.D1159N 4q31.21 C3N-03884 . . . . . . . . . 8.19 D T P B . D M T N 0.325 T T D 0.139 0.222 0.676 1.377 T T T T D D 3.369 24.300 0.999 D D 0.517 5.171 0.548 5.629 1.000 0.707 0.634 0.659 0.714 . 5.010 5.010 5.847 1.026 0.599 1.000 0.941 0.998 878 . . . . TBC1D9 368 0 610 63 0.0936106983655275 TRUE TRUE ENSG00000112902.12 . BCM GRCh38.p13 chr5 9063085 9063085 + G G A Missense_Mutation SNP ENST00000382496.10 exon18 c.C2320T p.R774C exonic ENSG00000112902.12 . nonsynonymous SNV ENSG00000112902.12:ENST00000382496.10:exon18:c.C2320T:p.R774C 5p15.31 C3N-03884 . . . . . . . . . 11.20 D D D P D D L T D 0.792 T T T 0.230 . 0.678 1.068 T T T D D D 4.059 27.400 0.999 D D 0.348 4.039 0.339 3.949 1.000 0.615 0.617 0.659 0.564 . 5.650 3.800 4.763 0.161 0.676 1.000 0.823 0.919 838 . . . . SEMA5A 263 0 394 53 0.118568232662192 TRUE NA ENSG00000165671.20 . BCM GRCh38.p13 chr5 177246716 177246716 + C C T Nonsense_Mutation SNP ENST00000439151.6 exon10 c.C4417T p.R1473X exonic ENSG00000165671.20 . stopgain ENSG00000165671.20:ENST00000439151.6:exon10:c.C4417T:p.R1473X 5q35.3 C3N-03884 . . . . . . . . rs587784117 5.6 . . . . D A . . . 0.865 . . . . . . . . . D D . . 7.448 38 0.998 D N 0.643 6.387 0.493 5.100 1.000 0.707 0.725 0.725 0.723 . 5.650 3.750 1.330 1.026 0.599 1.000 1.000 0.990 923 . . . ID=COSV61786888;OCCURENCE=1(stomach),1(upper_aerodigestive_tract) NSD1 323 0 505 38 0.0699815837937385 TRUE NA ENSG00000204248.11 . BCM GRCh38.p13 chr6 33168520 33168520 + C C T Missense_Mutation SNP ENST00000374708.8 exon52 c.G3701A p.R1234Q exonic ENSG00000204248.11 . nonsynonymous SNV ENSG00000204248.11:ENST00000374708.8:exon52:c.G3701A:p.R1234Q 6p21.32 C3N-03884 3.448e-05 0 0 0.0002 0 3.153e-05 0 0 rs372143434 11.16 T T . . D D . D D 0.558 D D D 0.621 . 0.819 0.388 T T T D D . 3.936 26.600 0.999 D D 0.412 4.416 0.393 4.306 0.999 0.615 0.588 0.659 0.568 . 4.250 4.250 3.778 1.014 0.585 1.000 0.996 0.859 830 . . . . COL11A2 391 0 645 57 0.0811965811965812 TRUE NA ENSG00000106571.14 . BCM GRCh38.p13 chr7 41965069 41965069 + G G A Missense_Mutation SNP ENST00000395925.8 exon15 c.C4004T p.P1335L exonic ENSG00000106571.14 . nonsynonymous SNV ENSG00000106571.14:ENST00000395925.8:exon15:c.C4004T:p.P1335L 7p14.1 C3N-03884 8.339e-06 9.866e-05 0 0 0 0 0 0 rs201047754 3.20 T T B B N D N T N 0.130 T T D 0.034 . 0.202 0.296 T T T T T T 1.002 11.650 0.538 D N -0.685 0.838 -0.570 1.092 0.508 0.707 0.574 0.725 0.636 . 5.330 1.290 1.490 0.198 -0.124 0.949 0.065 0.563 932 . . . ID=COSV67886463;OCCURENCE=1(stomach) GLI3 346 0 524 69 0.116357504215852 TRUE TRUE ENSG00000106245.11 . BCM GRCh38.p13 chr7 99419424 99419424 + C C A Missense_Mutation SNP ENST00000222969.10 exon6 c.C418A p.R140S exonic ENSG00000106245.11 . nonsynonymous SNV ENSG00000106245.11:ENST00000222969.10:exon6:c.C418A:p.R140S 7q22.1 C3N-03884 . . . . . . . . . 10.19 D T B B D D M . D 0.802 T T T 0.287 0.620 0.343 0.827 T T D D D D 2.281 21.400 0.996 D N 0.018 2.574 0.023 2.440 0.999 0.672 0.698 0.702 0.711 . 4.930 2.020 1.216 0.084 0.581 1.000 0.972 0.914 400 BUD31/G10-related,_conserved_site . . . BUD31 263 0 439 50 0.102249488752556 TRUE TRUE ENSG00000122783.16 . BCM GRCh38.p13 chr7 135167799 135167799 + G G A Missense_Mutation SNP ENST00000393114.7 exon3 c.C146T p.A49V exonic ENSG00000122783.16 . nonsynonymous SNV ENSG00000122783.16:ENST00000393114.7:exon3:c.C146T:p.A49V 7q33 C3N-03884 5.779e-05 0.0007 0 0 0 0 0 0 rs140271713 0.7 . . . . . N . . . . . . T . . . . . . T T T . 0.276 4.009 0.595 N N -1.113 0.295 -1.156 0.321 1.000 0.646 0.672 0.702 0.723 . 4.930 1.110 0.343 -0.583 -1.560 0.000 0.000 0.000 485 . . . . CYREN 212 0 344 22 0.0601092896174863 TRUE NA ENSG00000183779.7 . BCM GRCh38.p13 chr8 37698568 37698568 + C C T Missense_Mutation SNP ENST00000331569.6 exon2 c.C1667T p.A556V exonic ENSG00000183779.7 . nonsynonymous SNV ENSG00000183779.7:ENST00000331569.6:exon2:c.C1667T:p.A556V 8p11.23 C3N-03884 . . . . . . . . . 7.20 D T D B N D L T N 0.262 T T D 0.143 0.102 0.421 . T T T T D T 3.464 24.600 0.998 D D 0.211 3.350 0.251 3.443 1.000 0.651 0.627 0.504 0.684 . 3.520 3.520 5.826 0.950 0.452 1.000 0.996 0.991 675 . . . . ZNF703 104 1 223 37 0.142307692307692 TRUE NA ENSG00000170961.7 . BCM GRCh38.p13 chr8 121628856 121628856 + T T A Missense_Mutation SNP ENST00000303924.5 exon2 c.A485T p.E162V exonic ENSG00000170961.7 . nonsynonymous SNV ENSG00000170961.7:ENST00000303924.5:exon2:c.A485T:p.E162V 8q24.13 C3N-03884 . . . . . . . . . 8.20 D D B B D D L T N 0.399 T T D 0.181 0.590 0.117 0.873 T T T T D T 2.797 23.000 0.972 D D -0.081 2.235 0.078 2.645 1.000 0.554 0.574 0.618 0.564 . 5.870 5.870 6.269 1.138 0.660 1.000 0.963 0.177 838 . . . . HAS2 409 0 552 114 0.171171171171171 TRUE TRUE ENSG00000050555.18 . BCM GRCh38.p13 chr9 131026366 131026366 + G G A Missense_Mutation SNP ENST00000361069.9 exon2 c.G455A p.R152H exonic ENSG00000050555.18 . nonsynonymous SNV ENSG00000050555.18:ENST00000361069.9:exon2:c.G455A:p.R152H 9q34.12 C3N-03884 6.632e-05 0 0 0 0 4.533e-05 0 0.0003 rs773185472 1.20 T T B B N N N T N 0.165 T T D 0.236 0.725 0.450 0.194 T T T T T T -0.505 0.116 0.881 N N -1.593 0.057 -1.652 0.062 1.000 0.696 0.590 0.723 0.586 . 5.680 -5.150 -1.559 -2.507 -1.689 0.000 0.000 0.003 428 Laminin,_N-terminal . . ID=COSV63089505;OCCURENCE=1(large_intestine) LAMC3 494 0 625 152 0.195624195624196 TRUE TRUE ENSG00000172661.18 . BCM GRCh38.p13 chr10 45784666 45784666 + C C - Frame_Shift_Del DEL ENST00000374362.6 exon24 c.2580delC p.L861Ffs*11 exonic ENSG00000172661.18 . frameshift deletion ENSG00000172661.18:ENST00000374362.6:exon24:c.2580delC:p.L861Ffs*11 10q11.22 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WASHC2C 125 0 184 25 0.119617224880383 NA TRUE ENSG00000174672.16 . BCM GRCh38.p13 chr11 1454504 1454504 + T T A Missense_Mutation SNP ENST00000528841.6 exon16 c.T1564A p.F522I exonic ENSG00000174672.16 . nonsynonymous SNV ENSG00000174672.16:ENST00000528841.6:exon16:c.T1564A:p.F522I 11p15.5 C3N-03884 . . . . . . . . . 17.20 D D D D U D M D D 0.940 T T D 0.887 0.664 0.917 1.603 D D D D D D 4.376 31 0.988 D D 0.324 3.904 0.307 3.760 0.663 0.696 0.588 0.723 0.563 . 3.570 3.570 5.940 1.086 0.609 1.000 0.999 0.998 976 . . . . BRSK2 183 0 355 42 0.105793450881612 TRUE TRUE ENSG00000166349.9 . BCM GRCh38.p13 chr11 36573933 36573933 + C C T Missense_Mutation SNP ENST00000299440.5 exon2 c.C629T p.S210F exonic ENSG00000166349.9 . nonsynonymous SNV ENSG00000166349.9:ENST00000299440.5:exon2:c.C629T:p.S210F 11p12 C3N-03884 . . . . . . . . rs147440161 5.20 D T P P N N M T N 0.182 T T D 0.168 0.363 0.809 0.277 T T T T D D 1.998 19.240 0.994 N N 0.379 4.213 0.341 3.967 1.000 0.554 0.563 0.618 0.586 . 5.900 5.900 0.467 1.026 0.599 0.002 0.983 0.962 485 RAG1_importin-binding . . ID=COSV55029145;OCCURENCE=1(skin) RAG1 206 0 320 46 0.12568306010929 TRUE TRUE ENSG00000181767.3 . BCM GRCh38.p13 chr11 56105512 56105512 + T T A Missense_Mutation SNP ENST00000641311.1 exon2 c.T470A p.F157Y exonic ENSG00000181767.3 . nonsynonymous SNV ENSG00000181767.3:ENST00000641311.1:exon2:c.T470A:p.F157Y 11q12.1 C3N-03884 . . . . . . . . . 0.20 T T P P N N L T N 0.154 T T T 0.027 0.364 0.284 0.322 T T T T T T 1.447 15.400 0.977 N N -0.440 1.297 -0.683 0.925 0.000 0.487 0.574 0.574 0.564 . 3.350 1.030 -0.224 0.725 0.458 0.000 0.006 0.005 150 GPCR,_rhodopsin-like,_7TM . . . OR8H2 253 0 337 26 0.0716253443526171 NA TRUE ENSG00000168066.20 . BCM GRCh38.p13 chr11 64766092 64766092 + G G A Missense_Mutation SNP ENST00000377390.7 exon13 c.C1646T p.A549V exonic ENSG00000168066.20 . nonsynonymous SNV ENSG00000168066.20:ENST00000377390.7:exon13:c.C1646T:p.A549V 11q13.1 C3N-03884 4.291e-05 0 0 0 0 7.787e-05 0 0 rs754963575 5.18 D T B B . D N T N 0.339 T T D 0.034 . 0.401 . . T T T T D 2.219 21.000 0.981 D N 0.158 3.124 0.290 3.657 1.000 0.742 0.702 0.775 0.714 . 5.300 5.300 2.917 0.988 0.584 1.000 1.000 0.997 401 . . . . SF1 407 0 711 94 0.116770186335404 TRUE NA ENSG00000174807.4 . BCM GRCh38.p13 chr11 66316822 66316822 + C C T Missense_Mutation SNP ENST00000311330.4 exon1 c.G206A p.R69H exonic ENSG00000174807.4 . nonsynonymous SNV ENSG00000174807.4:ENST00000311330.4:exon1:c.G206A:p.R69H 11q13.2 C3N-03884 7.752e-05 0.0002 0 0 0 8.347e-05 0 9.048e-05 rs751114440 3.20 T T D P N N N T N 0.297 T T D 0.082 0.528 0.427 1.178 D T T T T T 2.094 19.970 0.998 N N -0.476 1.224 -0.570 1.092 1.000 0.609 0.547 0.769 0.563 . 3.750 2.830 -0.182 0.952 0.511 0.000 0.836 0.615 85 C-type_lectin-like . . ID=COSV60936700;OCCURENCE=1(prostate) CD248 123 0 236 28 0.106060606060606 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-03884 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 279 0 434 55 0.112474437627812 TRUE TRUE ENSG00000167548.15 . BCM GRCh38.p13 chr12 49040778 49040778 + - NA G Frame_Shift_Ins NA ENST00000301067.11 exon31 c.6991dupC p.L2331Pfs*46 exonic ENSG00000167548.15 . frameshift insertion ENSG00000167548.15:ENST00000301067.11:exon31:c.6991dupC:p.L2331Pfs*46 12q13.12 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2D NA NA NA NA NA NA NA ENSG00000006327.14 . BCM GRCh38.p13 chr16 3021641 3021641 + T T G Missense_Mutation SNP ENST00000326577.9 exon3 c.T286G p.S96A exonic ENSG00000006327.14 . nonsynonymous SNV ENSG00000006327.14:ENST00000326577.9:exon3:c.T286G:p.S96A 16p13.3 C3N-03884 . . . . . . . . . 4.18 D D P P N N L . D 0.364 T T T 0.066 0.430 0.261 0.926 . T T T D T 2.921 23.300 0.662 N N -0.126 2.093 -0.099 2.051 1.000 0.564 0.552 0.522 0.562 . 4.580 3.450 1.738 1.138 0.665 0.998 1.000 0.999 740 . . . . TNFRSF12A 139 0 265 25 0.0862068965517241 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674953 7674953 + T T C Missense_Mutation SNP ENST00000269305.8 exon6 c.A578G p.H193R exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon6:c.A578G:p.H193R 17p13.1 C3N-03884 . . . . . . . . rs786201838 19.20 D D D D D D M D D 0.964 D D D 0.884 0.987 0.998 1.832 T D D D D D 4.068 27.500 0.988 D D 0.482 4.899 0.343 3.977 0.963 0.722 0.698 0.702 0.735 . 5.410 4.330 8.017 1.138 0.665 1.000 0.997 0.987 433 p53,_DNA-binding_domain . . ID=COSV52662414;OCCURENCE=2(salivary_gland),31(breast),10(liver),14(oesophagus),8(large_intestine),15(central_nervous_system),3(biliary_tract),19(ovary),10(stomach),18(haematopoietic_and_lymphoid_tissue),1(kidney),6(urinary_tract),1(soft_tissue),4(pancreas),2(prostate),19(lung),3(thyroid),6(upper_aerodigestive_tract),5(endometrium) TP53 465 0 623 108 0.147742818057456 TRUE TRUE ENSG00000141314.13 . BCM GRCh38.p13 chr17 32321077 32321077 + G G A Missense_Mutation SNP ENST00000269051.9 exon9 c.G1063A p.V355M exonic ENSG00000141314.13 . nonsynonymous SNV ENSG00000141314.13:ENST00000269051.9:exon9:c.G1063A:p.V355M 17q11.2 C3N-03884 2.471e-05 0 8.64e-05 0 0 1.499e-05 0 6.056e-05 rs749663091 10.20 D D D D D D L T N 0.831 T T D 0.282 0.503 0.570 0.867 T T T T T D 3.862 26.100 0.999 D D 0.563 5.567 0.578 5.964 1.000 0.706 0.588 0.710 0.613 . 5.810 4.820 6.291 1.069 0.660 1.000 1.000 0.998 941 Peptidase_S54,_rhomboid_domain . . . RHBDL3 604 0 980 92 0.0858208955223881 TRUE NA ENSG00000161664.7 . BCM GRCh38.p13 chr17 44176922 44176922 + G G A Missense_Mutation SNP ENST00000293414.6 exon3 c.G754A p.A252T exonic ENSG00000161664.7 . nonsynonymous SNV ENSG00000161664.7:ENST00000293414.6:exon3:c.G754A:p.A252T 17q21.31 C3N-03884 0 0 0 0 0 0 0 0 rs777379847 7.20 D T D P N D L T N 0.297 T T D 0.117 0.183 0.599 0.687 D T T T D T 2.971 23.400 0.998 D N 0.328 3.928 0.276 3.579 1.000 0.701 0.577 0.717 0.492 . 5.220 4.220 3.915 1.088 0.588 0.989 0.918 0.047 389 Ankyrin_repeat-containing_domain . . . ASB16 234 0 379 55 0.126728110599078 TRUE NA ENSG00000081913.14 . BCM GRCh38.p13 chr18 62716918 62716918 + C C T Missense_Mutation SNP ENST00000262719.10 exon1 c.C1235T p.S412L exonic ENSG00000081913.14 . nonsynonymous SNV ENSG00000081913.14:ENST00000262719.10:exon1:c.C1235T:p.S412L 18q21.33 C3N-03884 . . . . . . . . . 1.17 T T . . . N L T N 0.124 T T D 0.005 0.156 0.043 0.193 T T T T T T 0.184 2.941 0.954 N N -1.010 0.394 -1.154 0.323 1.000 0.437 0.219 0.474 0.604 . 2.690 -0.396 -1.289 0.005 -0.301 0.000 0.001 0.001 940 . . . . PHLPP1 392 0 608 50 0.0759878419452888 TRUE NA ENSG00000081913.14 . BCM GRCh38.p13 chr18 62716923 62716923 + C C T Nonsense_Mutation SNP ENST00000262719.10 exon1 c.C1240T p.Q414X exonic ENSG00000081913.14 . stopgain ENSG00000081913.14:ENST00000262719.10:exon1:c.C1240T:p.Q414X 18q21.33 C3N-03884 . . . . . . . . . 1.5 . . . . . A . . . 0.243 . . . . . . . . . T T . . 5.236 33 0.982 N N -0.376 1.435 -0.789 0.774 1.000 0.437 0.219 0.474 0.604 . 2.910 -2.310 -0.112 -1.010 -1.105 0.000 0.000 0.003 940 . . . . PHLPP1 422 0 673 58 0.079343365253078 TRUE TRUE ENSG00000142449.13 . BCM GRCh38.p13 chr19 8073184 8073184 + C C T Missense_Mutation SNP ENST00000600128.6 exon62 c.G7816A p.G2606R exonic ENSG00000142449.13 . nonsynonymous SNV ENSG00000142449.13:ENST00000600128.6:exon62:c.G7816A:p.G2606R 19p13.2 C3N-03884 4.17e-05 0.0004 0 0 0 0 0 6.058e-05 rs371456112 3.20 T T B B N D N T D 0.369 T T D 0.036 . 0.325 0.440 T T T T T T 0.554 7.058 0.915 N N -0.996 0.409 -1.037 0.444 1.000 0.718 0.316 0.571 0.564 . 4.390 0.975 0.855 -0.916 -0.171 0.006 0.027 0.035 734 EGF-like_domain;EGF-like_calcium-binding_domain . . ID=COSV99561151;OCCURENCE=1(endometrium) FBN3 276 0 415 64 0.133611691022964 TRUE NA ENSG00000197360.9 . BCM GRCh38.p13 chr19 22403446 22403446 + C C T Missense_Mutation SNP ENST00000357774.9 exon2 c.G97A p.A33T exonic ENSG00000197360.9 . nonsynonymous SNV ENSG00000197360.9:ENST00000357774.9:exon2:c.G97A:p.A33T 19p12 C3N-03884 8.274e-06 0 0 0.0001 0 0 0 0 rs759221666 3.19 D T D P . N L T D 0.110 T T T 0.076 0.759 0.210 0.856 T T T T T T 0.199 3.111 0.993 N N -0.469 1.239 -0.764 0.808 0.000 0.487 0.574 0.574 0.564 . 1.060 -0.855 -2.724 -1.487 -1.821 0.006 0.000 0.000 988 Krueppel-associated_box . . ID=COSV63337859;OCCURENCE=1(breast) ZNF98 264 0 418 49 0.104925053533191 NA TRUE ENSG00000171735.19 . BCM GRCh38.p13 chr1 7664308 7664308 + C C T Silent SNP ENST00000303635.12 exon9 c.C1761T p.S587S exonic ENSG00000171735.19 . synonymous SNV ENSG00000171735.19:ENST00000303635.12:exon9:c.C1761T:p.S587S 1p36.23 C3N-03884 5.052e-05 0.0005 0 0 0 1.539e-05 0 0 rs369901419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAMTA1 256 0 510 30 0.0555555555555556 TRUE NA ENSG00000131379.10 . BCM GRCh38.p13 chr3 14683073 14683073 + T T A Silent SNP ENST00000253697.8 exon3 c.T360A p.S120S exonic ENSG00000131379.10 . synonymous SNV ENSG00000131379.10:ENST00000253697.8:exon3:c.T360A:p.S120S 3p25.1 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C3orf20 266 0 445 57 0.113545816733068 TRUE TRUE ENSG00000047188.16 . BCM GRCh38.p13 chr5 113548644 113548644 + C C G Silent SNP ENST00000161863.9 exon11 c.C1599G p.V533V exonic ENSG00000047188.16 . synonymous SNV ENSG00000047188.16:ENST00000161863.9:exon11:c.C1599G:p.V533V 5q22.2 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YTHDC2 172 0 262 30 0.102739726027397 TRUE TRUE ENSG00000226979.8 . BCM GRCh38.p13 chr6 31573399 31573399 + C C T Silent SNP ENST00000454783.5 exon4 c.C324T p.F108F exonic ENSG00000226979.8 . synonymous SNV ENSG00000226979.8:ENST00000454783.5:exon4:c.C324T:p.F108F 6p21.33 C3N-03884 . . . . . . . . rs372799652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV69304547;OCCURENCE=1(large_intestine),1(central_nervous_system) LTA 346 0 607 58 0.087218045112782 TRUE TRUE ENSG00000112238.12 . BCM GRCh38.p13 chr6 99613127 99613127 + C C T Silent SNP ENST00000369215.5 exon4 c.C492T p.G164G exonic ENSG00000112238.12 . synonymous SNV ENSG00000112238.12:ENST00000369215.5:exon4:c.C492T:p.G164G 6q16.2 C3N-03884 4.26e-05 0 0 0 0.0002 6.205e-05 0 0 rs780474604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM13 425 0 681 91 0.117875647668394 TRUE NA ENSG00000034053.14 . BCM GRCh38.p13 chr15 29054487 29054487 + C C A Silent SNP ENST00000558402.5 exon5 c.C603A p.A201A exonic ENSG00000034053.14 . synonymous SNV ENSG00000034053.14:ENST00000558402.5:exon5:c.C603A:p.A201A 15q13.1 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . APBA2 672 0 1047 133 0.11271186440678 TRUE TRUE ENSG00000086967.10 . BCM GRCh38.p13 chr19 50454094 50454094 + G G A Silent SNP ENST00000357701.6 exon17 c.G1824A p.A608A exonic ENSG00000086967.10 . synonymous SNV ENSG00000086967.10:ENST00000357701.6:exon17:c.G1824A:p.A608A 19q13.33 C3N-03884 4.361e-05 0.0005 0 0 0 0 0 0 rs373184181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63093208;OCCURENCE=1(large_intestine),1(biliary_tract),1(skin),1(endometrium) MYBPC2 323 0 545 58 0.0961857379767828 TRUE TRUE ENSG00000100982.12 . BCM GRCh38.p13 chr20 45946076 45946076 + G G A Silent SNP ENST00000372409.8 exon13 c.G1389A p.R463R exonic ENSG00000100982.12 . synonymous SNV ENSG00000100982.12:ENST00000372409.8:exon13:c.G1389A:p.R463R 20q13.12 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCIF1 353 1 554 64 0.103559870550162 TRUE TRUE ENSG00000145868.17 . BCM GRCh38.p13 chr5 148451269 148451269 + G G A IGR SNP NA NA NA NA intergenic ENSG00000145868.17;ENSG00000164270.18 dist=8433;dist=30278 . . 5q32 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXO38 244 0 346 51 0.128463476070529 TRUE TRUE ENSG00000137731.14 . BCM GRCh38.p13 chr11 117822486 117822489 + GAAA GAAA - Intron DEL NA NA NA NA intronic ENSG00000137731.14;ENSG00000255245.4 . . . 11q23.3 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FXYD2 262 0 352 34 0.0880829015544041 TRUE NA ENSG00000197503.4 . BCM GRCh38.p13 chr12 24584040 24584040 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000197503.4;ENSG00000256852.1 . . . 12p12.1 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00477 137 0 222 21 0.0864197530864197 TRUE NA ENSG00000182732.18 . BCM GRCh38.p13 chr14 71990596 71990596 + T T - Intron SNP NA NA NA NA intronic ENSG00000182732.18 . . . 14q24.2 C3N-03884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS6 133 0 177 23 0.115 TRUE NA ENSG00000137948.18 . BCM GRCh38.p13 chr1 91976319 91976319 + G G A Missense_Mutation SNP ENST00000362005.7 exon6 c.G499A p.A167T exonic ENSG00000137948.18 . nonsynonymous SNV ENSG00000137948.18:ENST00000362005.7:exon6:c.G499A:p.A167T 1p22.1 C3N-01168 0.0024 0.0004 0.0003 0 0.0005 0.0028 0 0.0060 rs112246679 0.20 T T B B N N L T N 0.149 T T T 0.024 . 0.371 0.077 T T T T T T 0.433 5.794 0.793 N N -0.895 0.526 -0.928 0.582 0.027 0.487 0.574 0.574 0.542 . 4.990 2.010 0.418 -0.126 -0.161 0.000 0.004 0.014 623 . . . . BRDT 87 0 239 21 0.0807692307692308 TRUE NA ENSG00000143373.18 . BCM GRCh38.p13 chr1 151290535 151290535 + G G T Missense_Mutation SNP ENST00000324048.9 exon9 c.G3181T p.G1061W exonic ENSG00000143373.18 . nonsynonymous SNV ENSG00000143373.18:ENST00000324048.9:exon9:c.G3181T:p.G1061W 1q21.3 C3N-01168 . . . . . . . . . 9.20 D D D P U D M T D 0.467 T T T 0.222 0.392 0.180 1.100 T T T T D T 3.922 26.500 0.992 D D 0.548 5.428 0.511 5.264 1.000 0.672 0.702 0.607 0.636 . 5.090 5.090 4.594 1.176 0.676 1.000 0.761 0.462 91 . . . . ZNF687 100 0 316 68 0.177083333333333 TRUE TRUE ENSG00000160716.6 . BCM GRCh38.p13 chr1 154571959 154571959 + G G A Missense_Mutation SNP ENST00000368476.4 exon5 c.G1136A p.R379H exonic ENSG00000160716.6 . nonsynonymous SNV ENSG00000160716.6:ENST00000368476.4:exon5:c.G1136A:p.R379H 1q21.3 C3N-01168 . . . . . . . . . 4.19 T T B B . D N D N 0.198 T T D 0.093 0.398 0.676 1.640 D T T T T T 1.457 15.460 0.992 N N -0.794 0.663 -0.761 0.813 1.000 0.581 0.547 0.576 0.542 . 3.970 3.050 2.592 1.089 0.511 0.079 0.133 0.150 445 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . CHRNB2 85 0 679 62 0.0836707152496626 TRUE NA ENSG00000154358.21 . BCM GRCh38.p13 chr1 228287847 228287847 + G G A Missense_Mutation SNP ENST00000422127.5 exon36 c.G9698A p.R3233H exonic ENSG00000154358.21 . nonsynonymous SNV ENSG00000154358.21:ENST00000422127.5:exon36:c.G9698A:p.R3233H 1q42.13 C3N-01168 . . . . . . . . . 7.20 D D B B D N M T D 0.185 T T D 0.241 0.549 0.671 0.129 T T T T D T 1.280 14.240 0.892 N N -0.436 1.307 -0.440 1.301 0.010 0.696 0.588 0.723 0.621 . 5.060 4.150 0.050 1.172 0.672 0.003 0.214 0.050 425 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV104628517;OCCURENCE=1(large_intestine) OBSCN 406 0 938 83 0.0812928501469148 TRUE TRUE ENSG00000186487.20 . BCM GRCh38.p13 chr2 1887569 1887569 + C C T Missense_Mutation SNP ENST00000647738.2 exon17 c.G2561A p.R854K exonic ENSG00000186487.20 . nonsynonymous SNV ENSG00000186487.20:ENST00000647738.2:exon17:c.G2561A:p.R854K 2p25.3 C3N-01168 . . . . . . . . . 5.16 . . P P D D L . . . T T T 0.097 0.406 0.271 1.394 T T T T D T 2.915 23.200 0.992 D D 0.275 3.651 0.400 4.362 1.000 0.403 0.547 0.578 0.613 . 5.550 5.550 7.505 1.026 0.599 1.000 0.991 0.957 768 Myelin_transcription_factor_1 . . . MYT1L 286 0 498 55 0.0994575045207957 TRUE TRUE ENSG00000115540.15 . BCM GRCh38.p13 chr2 197516129 197516129 + C C A Missense_Mutation SNP ENST00000323303.9 exon1 c.C43A p.P15T exonic ENSG00000115540.15 . nonsynonymous SNV ENSG00000115540.15:ENST00000323303.9:exon1:c.C43A:p.P15T 2q33.1 C3N-01168 . . . . . . . . . 13.18 D D D P D D M . D 0.623 T T D 0.250 0.550 0.320 1.858 . D T T D D 3.902 26.400 0.988 D D 0.499 5.026 0.472 4.917 1.000 0.442 0.522 0.522 0.562 . 4.600 3.700 4.982 0.962 0.524 1.000 1.000 0.990 482 . . . . MOB4 156 0 475 101 0.175347222222222 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 C3N-01168 . . . . . . . . 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 104 0 304 29 0.0870870870870871 NA TRUE ENSG00000145194.18 . BCM GRCh38.p13 chr3 184276535 184276535 + G G A Missense_Mutation SNP ENST00000357474.9 exon2 c.G94A p.V32I exonic ENSG00000145194.18 . nonsynonymous SNV ENSG00000145194.18:ENST00000357474.9:exon2:c.G94A:p.V32I 3q27.1 C3N-01168 . . . . . . . . rs942717079 3.15 T T . . N N . D N 0.199 T T D 0.150 0.137 0.414 . . . T T D T 1.627 16.540 0.993 N N -0.657 0.886 -0.566 1.097 0.589 0.447 0.563 0.504 0.530 . 3.610 1.650 1.617 1.167 0.676 0.009 0.941 0.996 820 . . . ID=COSV104662790;OCCURENCE=1(large_intestine) ECE2 254 0 654 88 0.118598382749326 TRUE NA ENSG00000035928.16 . BCM GRCh38.p13 chr4 39316991 39316991 + C C T Missense_Mutation SNP ENST00000381897.5 exon10 c.G1127A p.R376H exonic ENSG00000035928.16 . nonsynonymous SNV ENSG00000035928.16:ENST00000381897.5:exon10:c.G1127A:p.R376H 4p14 C3N-01168 2.474e-05 0.0002 0 0 0 1.5e-05 0 0 rs374549255 12.20 D D D D D D M T D 0.360 T T T 0.356 . 0.743 0.705 T T T T D D 4.235 29.000 1.000 D D 0.804 8.851 0.804 10.246 1.000 0.732 0.725 0.744 0.714 . 5.930 5.930 5.649 1.026 0.549 1.000 0.998 0.995 410 . . . ID=COSV62899615;OCCURENCE=1(breast),3(stomach) RFC1 167 0 385 38 0.0898345153664303 TRUE TRUE ENSG00000155511.18 . BCM GRCh38.p13 chr5 153677055 153677055 + G G A Missense_Mutation SNP ENST00000285900.10 exon7 c.G923A p.R308Q exonic ENSG00000155511.18 . nonsynonymous SNV ENSG00000155511.18:ENST00000285900.10:exon7:c.G923A:p.R308Q 5q33.2 C3N-01168 8.537e-06 0 0 0 0 0 0 7.272e-05 rs760982517 9.20 T T D D D D L T N 0.744 T T D 0.237 0.781 0.774 0.781 T T T T D D 3.742 25.600 1.000 D D 0.667 6.687 0.704 7.827 1.000 0.554 0.574 0.618 0.613 . 5.560 5.560 7.840 1.083 0.676 1.000 1.000 0.991 890 Receptor,_ligand_binding_region . . ID=COSV53601131;OCCURENCE=1(stomach) GRIA1 36 0 108 6 0.0526315789473684 TRUE NA ENSG00000113327.16 . BCM GRCh38.p13 chr5 162153305 162153305 + C C G Missense_Mutation SNP ENST00000639213.1 exon9 c.C1341G p.I447M exonic ENSG00000113327.16 . nonsynonymous SNV ENSG00000113327.16:ENST00000639213.1:exon9:c.C1341G:p.I447M 5q34 C3N-01168 . . . . . . . . . 17.20 D D D D D D L D N 0.611 D D D 0.652 0.594 0.912 1.429 D T D D D D 2.958 23.300 0.997 D D 0.471 4.818 0.465 4.858 0.000 0.554 0.574 0.618 0.564 . 5.950 5.090 0.051 1.008 0.599 0.902 1.000 0.994 964 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . GABRG2 326 0 715 76 0.0960809102402023 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21974696 21974696 + - NA T Nonsense_Mutation SNP ENST00000304494.9 exon1 c.131dupA p.Y44* exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon1:c.131dupA:p.Y44* 9p21.3 C3N-01168 8.457e-06 0 0 0 0 1.547e-05 0 0 rs730881673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A NA NA NA NA NA NA NA ENSG00000187908.19 . BCM GRCh38.p13 chr10 122631225 122631225 + G G A Missense_Mutation SNP ENST00000368909.7 exon46 c.G5903A p.R1968Q exonic ENSG00000187908.19 . nonsynonymous SNV ENSG00000187908.19:ENST00000368909.7:exon46:c.G5903A:p.R1968Q 10q26.13 C3N-01168 0.0016 0 8.639e-05 0.0213 0 2.997e-05 0 0.0007 rs149958745 2.18 T T D D . N L T N 0.112 T T . 0.107 . 0.461 0.667 T T T T T T 0.847 9.869 0.954 N N -0.903 0.516 -0.974 0.522 0.153 0.487 0.590 0.574 0.564 . 5.560 -1.870 -3.445 -0.666 -0.110 0.000 0.072 0.989 571 SRCR_domain;SRCR-like_domain . . ID=COSV57556235;OCCURENCE=1(ovary),1(haematopoietic_and_lymphoid_tissue),1(skin) DMBT1 187 0 404 31 0.071264367816092 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-01168 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 261 2 566 66 0.104430379746835 TRUE TRUE ENSG00000185974.7 . BCM GRCh38.p13 chr13 113671551 113671551 + G G A Missense_Mutation SNP ENST00000335678.7 exon3 c.G880A p.A294T exonic ENSG00000185974.7 . nonsynonymous SNV ENSG00000185974.7:ENST00000335678.7:exon3:c.G880A:p.A294T 13q34 C3N-01168 3.336e-05 0 0 0 0 6.042e-05 0 0 rs200986774 10.19 D T D D D D . T D 0.542 T T D 0.430 . 0.893 0.280 T T T T D D 2.824 23.100 0.997 D N 0.212 3.355 0.079 2.652 1.000 0.581 0.574 0.576 0.564 . 4.430 4.430 3.426 1.086 0.638 0.694 0.002 0.003 970 Rhodopsin_kinase,_catalytic_domain;Protein_kinase_domain . . ID=COSV59552488;OCCURENCE=2(large_intestine),1(lung),1(endometrium) GRK1 255 0 705 61 0.0796344647519582 TRUE TRUE ENSG00000090060.18 . BCM GRCh38.p13 chr14 96536994 96536994 + A A C Missense_Mutation SNP ENST00000216277.12 exon12 c.A1049C p.E350A exonic ENSG00000090060.18 . nonsynonymous SNV ENSG00000090060.18:ENST00000216277.12:exon12:c.A1049C:p.E350A 14q32.2 C3N-01168 . . . . . . . . . 12.19 D D P P D D L . D 0.888 T T D 0.465 0.575 0.874 2.059 T T D D D D 4.402 31 0.994 D D 0.621 6.145 0.637 6.720 1.000 0.732 0.725 0.710 0.728 . 5.010 5.010 9.271 1.312 0.756 1.000 1.000 1.000 963 Poly(A)_polymerase,_central_domain . . . PAPOLA 124 0 333 20 0.056657223796034 TRUE TRUE ENSG00000198826.11 . BCM GRCh38.p13 chr15 32636795 32636795 + T T A Missense_Mutation SNP ENST00000361627.8 exon12 c.T2022A p.F674L exonic ENSG00000198826.11 . nonsynonymous SNV ENSG00000198826.11:ENST00000361627.8:exon12:c.T2022A:p.F674L 15q13.3 C3N-01168 . . . . . . . . . 0.20 T T B B N N L T N 0.064 T T T 0.021 0.316 0.230 0.035 T T T T T T 0.368 5.074 0.717 N N -1.121 0.288 -1.136 0.340 1.000 0.707 0.602 0.609 0.714 . 4.910 -0.845 -0.158 -0.001 0.665 0.051 0.064 0.706 982 . . . . ARHGAP11A 87 0 207 16 0.0717488789237668 TRUE TRUE ENSG00000100726.15 . BCM GRCh38.p13 chr16 1500123 1500123 + C C T Missense_Mutation SNP ENST00000262319.11 exon7 c.C961T p.H321Y exonic ENSG00000100726.15 . nonsynonymous SNV ENSG00000100726.15:ENST00000262319.11:exon7:c.C961T:p.H321Y 16p13.3 C3N-01168 . . . . . . . . . 2.20 T T B B N N N D N 0.263 T T D 0.165 0.553 0.518 0.138 T T T T T T 1.361 14.820 0.683 N N -1.174 0.246 -0.858 0.677 0.092 0.707 0.702 0.723 0.714 . 4.860 2.600 2.461 -0.158 -0.754 1.000 0.987 0.868 769 . . . . TELO2 115 0 374 37 0.0900243309002433 TRUE TRUE ENSG00000167716.18 . BCM GRCh38.p13 chr17 1727940 1727940 + G G C Missense_Mutation SNP ENST00000409644.5 exon1 c.G2981C p.R994P exonic ENSG00000167716.18 . nonsynonymous SNV ENSG00000167716.18:ENST00000409644.5:exon1:c.G2981C:p.R994P 17p13.3 C3N-01168 5.399e-05 0 0 0 0 0 0 0.0001 rs770995429 12.17 D D . . . D M T D 0.833 T T D 0.792 0.702 0.790 1.471 T T D D D D 4.305 29.600 0.997 D D 0.889 10.768 0.884 13.096 1.000 0.646 0.577 0.645 0.605 . 5.670 5.670 9.852 1.176 0.676 1.000 1.000 0.990 665 . . . . WDR81 209 0 522 74 0.124161073825503 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674935 7674935 + C C - Frame_Shift_Del NA ENST00000269305.8 exon6 c.596delG p.G199Efs*48 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon6:c.596delG:p.G199Efs*48 17p13.1 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 509 0 819 111 0.119354838709677 TRUE TRUE ENSG00000108799.13 . BCM GRCh38.p13 chr17 42713329 42713329 + G G A Missense_Mutation SNP ENST00000428826.7 exon11 c.C1084T p.R362W exonic ENSG00000108799.13 . nonsynonymous SNV ENSG00000108799.13:ENST00000428826.7:exon11:c.C1084T:p.R362W 17q21.2 C3N-01168 8.24e-06 0 0 0 0 1.499e-05 0 0 rs747924624 17.20 D D D D D D M D N 0.545 D D D 0.657 0.479 0.903 2.468 T T D D D D 3.952 26.700 0.999 D D 0.542 5.383 0.486 5.037 0.008 0.745 0.723 0.732 0.636 . 5.260 3.100 3.980 1.176 0.676 1.000 0.999 0.998 240 . . . . EZH1 108 0 321 21 0.0614035087719298 TRUE NA ENSG00000105202.9 . BCM GRCh38.p13 chr19 39837825 39837825 + C C T Missense_Mutation SNP ENST00000221801.8 exon6 c.G568A p.V190I exonic ENSG00000105202.9 . nonsynonymous SNV ENSG00000105202.9:ENST00000221801.8:exon6:c.G568A:p.V190I 19q13.2 C3N-01168 . . . . . . . . . 7.18 T T P P D D M . N 0.698 T T T 0.455 0.814 0.448 1.171 T T D T D . 4.052 27.400 0.999 D D 0.753 7.931 0.740 8.570 1.000 0.707 0.725 0.725 0.714 . 5.350 5.350 7.560 1.026 0.599 1.000 0.999 0.991 610 Fibrillarin,_conserved_site . . . FBL 161 1 383 24 0.058968058968059 TRUE TRUE ENSG00000104972.15 . BCM GRCh38.p13 chr19 54632697 54632697 + G G T Missense_Mutation SNP ENST00000427581.6 exon5 c.G1003T p.G335C exonic ENSG00000104972.15 . nonsynonymous SNV ENSG00000104972.15:ENST00000427581.6:exon5:c.G1003T:p.G335C 19q13.42 C3N-01168 . . . . . . . . . 6.19 D D D D N N . T D 0.537 T T T 0.097 0.771 0.419 0.376 T T T T D T 1.944 18.830 0.994 N N -0.108 2.151 -0.465 1.260 0.822 0.722 0.699 0.574 0.564 . 2.030 0.954 0.042 0.714 -0.282 0.003 0.002 0.000 804 Immunoglobulin_subtype_2;Immunoglobulin_subtype . . ID=COSV100207220;OCCURENCE=1(skin) LILRB1 235 0 578 73 0.112135176651306 NA TRUE ENSG00000124203.6 . BCM GRCh38.p13 chr20 59191471 59191471 + G G A Missense_Mutation SNP ENST00000637017.1 exon4 c.G452A p.R151H exonic ENSG00000124203.6 . nonsynonymous SNV ENSG00000124203.6:ENST00000637017.1:exon4:c.G452A:p.R151H 20q13.32 C3N-01168 . . . . . . . . . 10.19 D D P P . D M T D 0.623 T T D 0.295 0.573 0.573 0.890 T T T T D D 3.913 26.400 0.999 D D 0.454 4.699 0.509 5.242 1.000 0.554 0.588 0.578 0.613 . 5.410 5.410 8.030 1.176 0.676 1.000 0.897 0.910 993 Zinc_finger_C2H2-type . . ID=COSV64040627;OCCURENCE=3(large_intestine),1(upper_aerodigestive_tract) ZNF831 150 1 507 54 0.0962566844919786 TRUE TRUE ENSG00000186976.15 . BCM GRCh38.p13 chr22 43555011 43555011 + C C T Missense_Mutation SNP ENST00000262726.12 exon27 c.G3506A p.R1169H exonic ENSG00000186976.15 . nonsynonymous SNV ENSG00000186976.15:ENST00000262726.12:exon27:c.G3506A:p.R1169H 22q13.2 C3N-01168 2.471e-05 0.0002 0 0 0 1.498e-05 0 0 rs149074808 1.20 T D B B N N L T N 0.362 T T T 0.050 . 0.136 0.098 T T T T T T 1.582 16.260 0.989 N N -0.895 0.526 -0.964 0.535 0.000 0.554 0.547 0.602 0.564 . 4.880 -1.120 0.930 -0.714 -0.202 0.124 0.000 0.541 846 DJBP,_EF-hand_domain . . . EFCAB6 385 0 683 84 0.109517601043025 TRUE NA ENSG00000183304.10 . BCM GRCh38.p13 chrX 8793666 8793666 + A A T Missense_Mutation SNP ENST00000543214.1 exon8 c.T922A p.L308I exonic ENSG00000183304.10 . nonsynonymous SNV ENSG00000183304.10:ENST00000543214.1:exon8:c.T922A:p.L308I Xp22.31 C3N-01168 . . . . . . . . . 0.16 T T B B . N N . N 0.283 T T T 0.035 0.316 0.306 0.057 . T T T T T 0.698 8.439 0.906 N . . . . . 0.215 . . . . . 0.678 0.678 2.059 0.490 0.410 0.965 0.003 0.004 987 . . . ID=COSV66813715;OCCURENCE=2(large_intestine) FAM9A 179 0 440 42 0.0871369294605809 TRUE TRUE ENSG00000185915.5 . BCM GRCh38.p13 chrX 21656450 21656450 + C C T Missense_Mutation SNP ENST00000379499.3 exon1 c.G1339A p.D447N exonic ENSG00000185915.5 . nonsynonymous SNV ENSG00000185915.5:ENST00000379499.3:exon1:c.G1339A:p.D447N Xp22.12 C3N-01168 . . . . . . . . . 5.19 T T P B D D L T N 0.113 T T D 0.219 0.857 0.905 0.583 D T T T T T 2.329 21.700 0.888 D . . . . . 0.945 . . . . . 4.630 4.630 2.383 1.022 0.596 1.000 0.997 0.843 40 . . . ID=COSV104689980;OCCURENCE=1(skin) KLHL34 212 0 604 55 0.0834597875569044 TRUE NA ENSG00000165164.14 . BCM GRCh38.p13 chrX 36310843 36310843 + G G T Missense_Mutation SNP ENST00000378653.8 exon56 c.G8198T p.W2733L exonic ENSG00000165164.14 . nonsynonymous SNV ENSG00000165164.14:ENST00000378653.8:exon56:c.G8198T:p.W2733L Xp21.1 C3N-01168 . . . . . . . . . 4.10 . D . . . N . . . 0.550 T T D 0.366 . 0.192 . . . T T D T 3.656 25.200 0.986 D . . . . . 0.934 . . . . . 5.290 5.290 6.745 1.005 0.671 1.000 0.906 0.728 778 . . . . CFAP47 138 0 287 23 0.0741935483870968 NA TRUE ENSG00000213401.10 . BCM GRCh38.p13 chrX 152736774 152736774 + G G A Missense_Mutation SNP ENST00000393869.8 exon3 c.G613A p.V205I exonic ENSG00000213401.10 . nonsynonymous SNV ENSG00000213401.10:ENST00000393869.8:exon3:c.G613A:p.V205I Xq28 C3N-01168 . . . . . . . . . 0.6 T T . . . . . T N 0.046 . . . . . . . . T . . . T -0.688 0.046 . . . . . . . . . . . . . . . -0.302 -3.950 -1.848 0.008 0.000 0.001 663 MAGE_homology_domain . . ID=COSV63295359;OCCURENCE=1(large_intestine),1(stomach) MAGEA12 573 0 1434 171 0.106542056074766 NA TRUE ENSG00000198753.12 . BCM GRCh38.p13 chrX 153778304 153778304 + G G A Missense_Mutation SNP ENST00000361971.10 exon33 c.G5453A p.R1818H exonic ENSG00000198753.12 . nonsynonymous SNV ENSG00000198753.12:ENST00000361971.10:exon33:c.G5453A:p.R1818H Xq28 C3N-01168 . . . . . . . . . 8.19 T D B B D D L T D 0.291 T T D 0.133 0.580 0.597 . T T T T D D 3.450 24.600 0.998 D . . . . . 1.000 . . . . . 5.220 4.290 5.591 0.226 0.676 1.000 0.994 0.973 57 Plexin,_cytoplasmic_RasGAP_domain . . . PLXNB3 78 0 230 26 0.1015625 TRUE NA ENSG00000143450.17 . BCM GRCh38.p13 chr1 151767260 151767260 + C C T Silent SNP ENST00000400999.6 exon3 c.C264T p.T88T exonic ENSG00000143450.17 . synonymous SNV ENSG00000143450.17:ENST00000400999.6:exon3:c.C264T:p.T88T 1q21.3 C3N-01168 8.297e-06 0 0 0 0 1.501e-05 0 0 rs539535190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58617590;OCCURENCE=3(prostate) OAZ3 132 0 406 29 0.0666666666666667 TRUE TRUE ENSG00000058673.16 . BCM GRCh38.p13 chr1 203847281 203847281 + C C T Silent SNP ENST00000639812.1 exon13 c.C1140T p.L380L exonic ENSG00000058673.16 . synonymous SNV ENSG00000058673.16:ENST00000639812.1:exon13:c.C1140T:p.L380L 1q32.1 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZC3H11A 349 0 929 162 0.148487626031164 NA TRUE ENSG00000272674.3 . BCM GRCh38.p13 chr5 141184224 141184224 + C C T Silent SNP ENST00000609684.2 exon1 c.C1665T p.N555N exonic ENSG00000272674.3 . synonymous SNV ENSG00000272674.3:ENST00000609684.2:exon1:c.C1665T:p.N555N 5q31.3 C3N-01168 1.037e-05 0.0002 0 0 0 0 0 0 rs782078950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53362553;OCCURENCE=2(endometrium) PCDHB16 489 0 1133 134 0.105761641673244 NA TRUE ENSG00000165309.14 . BCM GRCh38.p13 chr10 22998280 22998280 + G G A Silent SNP ENST00000298032.10 exon11 c.G1308A p.Q436Q exonic ENSG00000165309.14 . synonymous SNV ENSG00000165309.14:ENST00000298032.10:exon11:c.G1308A:p.Q436Q 10p12.2 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARMC3 495 0 955 94 0.0896091515729266 TRUE TRUE ENSG00000117983.17 . BCM GRCh38.p13 chr11 1249081 1249081 + C C T Silent SNP ENST00000529681.5 exon31 c.C12201T p.S4067S exonic ENSG00000117983.17 . synonymous SNV ENSG00000117983.17:ENST00000529681.5:exon31:c.C12201T:p.S4067S 11p15.5 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5B 627 0 1239 132 0.0962800875273523 NA TRUE ENSG00000123200.16 . BCM GRCh38.p13 chr13 46045487 46045487 + C C T Silent SNP ENST00000242848.8 exon2 c.G21A p.K7K exonic ENSG00000123200.16 . synonymous SNV ENSG00000123200.16:ENST00000242848.8:exon2:c.G21A:p.K7K 13q14.13 C3N-01168 8.238e-06 0 0 0 0 1.499e-05 0 0 rs750929563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZC3H13 161 0 358 45 0.11166253101737 TRUE NA ENSG00000090861.16 . BCM GRCh38.p13 chr16 70253322 70253322 + G G A Silent SNP ENST00000261772.13 exon20 c.C2667T p.L889L exonic ENSG00000090861.16 . synonymous SNV ENSG00000090861.16:ENST00000261772.13:exon20:c.C2667T:p.L889L 16q22.1 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AARS1 483 0 1070 104 0.0885860306643952 TRUE TRUE ENSG00000108262.15 . BCM GRCh38.p13 chr17 29574813 29574813 + G G A Silent SNP ENST00000225394.7 exon20 c.C2175T p.G725G exonic ENSG00000108262.15 . synonymous SNV ENSG00000108262.15:ENST00000225394.7:exon20:c.C2175T:p.G725G 17q11.2 C3N-01168 2.837e-05 0 0 0 0 0 0 0.0002 rs762322741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GIT1 118 0 459 53 0.103515625 TRUE NA ENSG00000184640.18 . BCM GRCh38.p13 chr17 77482160 77482160 + C C T Silent SNP ENST00000427177.6 exon4 c.C738T p.P246P exonic ENSG00000184640.18 . synonymous SNV ENSG00000184640.18:ENST00000427177.6:exon4:c.C738T:p.P246P 17q25.3 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEPTIN9 131 0 289 38 0.116207951070336 TRUE NA ENSG00000065717.15 . BCM GRCh38.p13 chr19 3006495 3006495 + G G T Silent SNP ENST00000262953.11 exon15 c.C1425A p.G475G exonic ENSG00000065717.15 . synonymous SNV ENSG00000065717.15:ENST00000262953.11:exon15:c.C1425A:p.G475G 19p13.3 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLE2 151 0 523 47 0.0824561403508772 TRUE TRUE ENSG00000007047.15 . BCM GRCh38.p13 chr19 45302701 45302701 + C C T Silent SNP ENST00000262891.9 exon17 c.C2250T p.L750L exonic ENSG00000007047.15 . synonymous SNV ENSG00000007047.15:ENST00000262891.9:exon17:c.C2250T:p.L750L 19q13.32 C3N-01168 . . . . . . . . rs946478177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARK4 187 0 558 32 0.0542372881355932 TRUE NA ENSG00000068354.16 . BCM GRCh38.p13 chrX 48560567 48560567 + C C T Silent SNP ENST00000376771.9 exon6 c.C1659T p.S553S exonic ENSG00000068354.16 . synonymous SNV ENSG00000068354.16:ENST00000376771.9:exon6:c.C1659T:p.S553S Xp11.23 C3N-01168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D25 98 0 238 14 0.0555555555555556 TRUE TRUE ENSG00000102081.15 . BCM GRCh38.p13 chrX 147944921 147944921 + C C T Silent SNP ENST00000370475.9 exon15 c.C1524T p.D508D exonic ENSG00000102081.15 . synonymous SNV ENSG00000102081.15:ENST00000370475.9:exon15:c.C1524T:p.D508D Xq27.3 C3N-01168 5.499e-05 0.0004 0 0 0 2.602e-05 0 0 rs376113075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMR1 177 1 363 34 0.0856423173803526 TRUE NA ENSG00000149091.15 . BCM GRCh38.p13 chr11 46366726 46366726 + G G A Intron SNP NA NA NA NA intronic ENSG00000149091.15 . . . 11p11.2 C3N-01168 5.077e-05 0 0 0 0 0.0001 0 0 rs577494020 6.20 D T P P U D M T N 0.146 T T D 0.216 0.482 0.774 0.183 T T T T D T 2.185 20.800 0.992 D N -0.230 1.793 -0.311 1.542 1.000 0.632 0.698 0.576 0.509 . 4.730 4.730 0.693 -0.138 -0.121 0.158 0.007 0.054 40 . . . . DGKZ 199 1 666 66 0.0901639344262295 TRUE NA ENSG00000188800.6 . BCM GRCh38.p13 chr1 40248076 40248076 + - NA T Frame_Shift_Ins NA ENST00000372766.4 exon1 c.84dupT p.L30Ffs*5 exonic ENSG00000188800.6 . frameshift insertion ENSG00000188800.6:ENST00000372766.4:exon1:c.84dupT:p.L30Ffs*5 1p34.2 C3L-00622 8.237e-06 0 0 0 0 1.498e-05 0 0 rs761324353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMCO2 NA NA NA NA NA NA NA ENSG00000081985.12 . BCM GRCh38.p13 chr1 67367996 67367996 + G G A Missense_Mutation SNP ENST00000262345.5 exon10 c.G1430A p.R477Q exonic ENSG00000081985.12 . nonsynonymous SNV ENSG00000081985.12:ENST00000262345.5:exon10:c.G1430A:p.R477Q 1p31.3 C3L-00622 . . . . . . . . . 1.20 T D B B N N N T N 0.077 T T T 0.107 0.475 0.566 0.159 T T T T T T 1.523 15.890 0.992 N N -0.955 0.454 -0.893 0.630 1.000 0.638 0.670 0.659 0.688 . 5.020 5.020 0.380 0.128 -0.174 0.000 0.005 0.004 530 Fibronectin_type_III . . . IL12RB2 320 0 648 65 0.091164095371669 TRUE NA ENSG00000189334.9 . BCM GRCh38.p13 chr1 153614953 153614953 + T T A Missense_Mutation SNP ENST00000344616.4 exon4 c.A247T p.S83C exonic ENSG00000189334.9 . nonsynonymous SNV ENSG00000189334.9:ENST00000344616.4:exon4:c.A247T:p.S83C 1q21.3 C3L-00622 . . . . . . . . . 4.20 D D P B N N L T D 0.309 T T T 0.140 0.584 0.313 0.096 T T T T D T 3.108 23.600 0.991 N N -0.050 2.339 -0.074 2.124 1.000 0.615 0.610 0.659 0.613 . 4.860 4.860 2.046 1.120 0.641 0.822 0.934 0.976 238 . . . . S100A14 127 0 293 30 0.0928792569659443 TRUE TRUE ENSG00000117707.16 . BCM GRCh38.p13 chr1 213997034 213997034 + G G A Missense_Mutation SNP ENST00000366958.9 exon2 c.G499A p.A167T exonic ENSG00000117707.16 . nonsynonymous SNV ENSG00000117707.16:ENST00000366958.9:exon2:c.G499A:p.A167T 1q32.3 C3L-00622 . . . . . . . . . 15.20 D D D D D D L T D 0.956 T T T 0.606 0.679 0.868 1.648 D D D D D D 4.116 27.900 0.999 D D 0.949 12.398 0.932 15.191 1.000 0.554 0.574 0.574 0.568 . 5.580 5.580 10.003 1.176 0.676 1.000 1.000 0.999 929 . . . . PROX1 114 0 259 29 0.100694444444444 TRUE TRUE ENSG00000143641.10 . BCM GRCh38.p13 chr1 230265357 230265357 + G G A Missense_Mutation SNP ENST00000366672.5 exon14 c.G1430A p.G477E exonic ENSG00000143641.10 . nonsynonymous SNV ENSG00000143641.10:ENST00000366672.5:exon14:c.G1430A:p.G477E 1q42.13 C3L-00622 . . . . . . . . . 15.20 T D D D D D M T D 0.929 T T D 0.612 0.585 0.531 1.697 D T D D D D 3.907 26.400 0.998 D D 0.964 12.821 0.927 14.962 1.000 0.732 0.702 0.744 0.714 . 5.480 5.480 9.982 1.172 0.672 1.000 0.985 0.998 937 Ricin_B,_lectin_domain . . . GALNT2 111 0 235 31 0.116541353383459 TRUE TRUE ENSG00000198626.17 . BCM GRCh38.p13 chr1 237454452 237454452 + G G C Missense_Mutation SNP ENST00000366574.7 exon15 c.G1354C p.V452L exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon15:c.G1354C:p.V452L 1q43 C3L-00622 . . . . . . . . . 10.19 T . P P U D L D N 0.786 D D D 0.656 0.649 0.805 0.381 T T D T D D 2.467 22.300 0.958 D D 0.287 3.711 0.190 3.136 0.908 0.487 0.574 0.574 0.564 . 5.870 4.960 6.906 1.166 0.665 1.000 0.194 0.080 958 . . . . RYR2 126 0 280 29 0.0938511326860841 TRUE TRUE ENSG00000203663.4 . BCM GRCh38.p13 chr1 248038466 248038466 + C C A Missense_Mutation SNP ENST00000641771.1 exon3 c.C199A p.L67I exonic ENSG00000203663.4 . nonsynonymous SNV ENSG00000203663.4:ENST00000641771.1:exon3:c.C199A:p.L67I 1q44 C3L-00622 . . . . . . . . . 0.20 T T B B N N L T N 0.061 T T T 0.012 0.379 0.055 0.016 T T T T T T -0.417 0.177 0.891 N N -1.236 0.203 -1.343 0.182 0.000 0.487 0.574 0.574 0.564 . 1.900 -0.289 -5.886 0.482 0.419 0.000 0.002 0.002 912 GPCR,_rhodopsin-like,_7TM . . . OR2L2 199 0 346 28 0.0748663101604278 NA TRUE ENSG00000130561.17 . BCM GRCh38.p13 chr2 233320698 233320698 + C C T Missense_Mutation SNP ENST00000409110.6 exon5 c.C250T p.R84C exonic ENSG00000130561.17 . nonsynonymous SNV ENSG00000130561.17:ENST00000409110.6:exon5:c.C250T:p.R84C 2q37.1 C3L-00622 0.0021 0.0195 0.0020 0 0 0.0004 0.0019 0.0003 rs115857633 10.18 D D D D D D M T D 0.874 T T . 0.357 . 0.631 0.666 T T T T T . 4.004 27.000 0.999 D D 0.611 6.042 0.561 5.764 1.000 0.497 0.590 0.547 0.530 . 4.460 4.460 2.223 1.026 0.599 1.000 0.999 0.951 861 Arrestin,_conserved_site;Arrestin-like,_N-terminal . . ID=COSV68592255;OCCURENCE=1(stomach) SAG 287 0 515 36 0.0653357531760436 TRUE TRUE ENSG00000115694.15 . BCM GRCh38.p13 chr2 241499406 241499406 + C C T Missense_Mutation SNP ENST00000316586.9 exon6 c.G436A p.V146M exonic ENSG00000115694.15 . nonsynonymous SNV ENSG00000115694.15:ENST00000316586.9:exon6:c.G436A:p.V146M 2q37.3 C3L-00622 . . . . . . . . rs1053183334 18.20 D D D D D D L D D 0.899 D D D 0.528 0.817 0.842 1.681 D T D D D D 4.365 31 0.999 D D 0.759 8.036 0.743 8.630 1.000 0.672 0.702 0.644 0.711 . 5.040 5.040 7.692 1.022 0.596 1.000 1.000 0.999 982 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain;Serine/threonine_kinase_25,_catalytic_domain . . . STK25 105 0 270 29 0.096989966555184 TRUE TRUE ENSG00000163638.13 . BCM GRCh38.p13 chr3 64603928 64603928 + C C A Missense_Mutation SNP ENST00000498707.5 exon25 c.G3741T p.W1247C exonic ENSG00000163638.13 . nonsynonymous SNV ENSG00000163638.13:ENST00000498707.5:exon25:c.G3741T:p.W1247C 3p14.1 C3L-00622 . . . . . . . . . 18.20 D D D D D D H T D 0.937 D D D 0.806 0.942 0.856 0.971 T D D D D D 4.558 32 0.994 D D 1.100 17.521 0.978 17.542 1.000 0.563 0.574 0.574 0.636 . 5.220 5.220 7.568 1.000 0.599 1.000 0.999 0.987 703 . . . . ADAMTS9 81 0 137 23 0.14375 TRUE TRUE ENSG00000114554.11 . BCM GRCh38.p13 chr3 127017752 127017752 + C C T Missense_Mutation SNP ENST00000393409.2 exon18 c.C3520T p.R1174W exonic ENSG00000114554.11 . nonsynonymous SNV ENSG00000114554.11:ENST00000393409.2:exon18:c.C3520T:p.R1174W 3q21.3 C3L-00622 0.0001 0.0005 0 0.0007 0 3.043e-05 0 0.0002 rs371091022 15.20 D D D D N D M T D 0.843 T D D 0.597 . 0.685 1.293 D D T D T D 3.975 26.800 0.999 D D 0.574 5.671 0.490 5.073 1.000 0.707 0.654 0.723 0.714 . 4.250 4.250 3.092 0.980 0.549 1.000 0.916 0.409 936 IPT_domain . . . PLXNA1 109 0 333 31 0.0851648351648352 TRUE NA ENSG00000113205.5 . BCM GRCh38.p13 chr5 141102256 141102256 + G G A Missense_Mutation SNP ENST00000231130.3 exon1 c.G1607A p.R536H exonic ENSG00000113205.5 . nonsynonymous SNV ENSG00000113205.5:ENST00000231130.3:exon1:c.G1607A:p.R536H 5q31.3 C3L-00622 . . . . . . . . . 1.14 T T . . . N . T D 0.092 T T T 0.026 0.451 0.158 . T . T T T T 1.578 16.230 0.921 N . -0.874 0.553 -0.873 0.656 0.000 0.554 0.574 0.618 0.621 . 4.140 3.140 -0.178 -0.184 0.570 0.000 0.002 0.018 491 . . . ID=COSV50569302;OCCURENCE=4(large_intestine) PCDHB3 837 0 1630 144 0.0811724915445321 NA TRUE ENSG00000227057.10 . BCM GRCh38.p13 chr6 33279819 33279819 + G G A Missense_Mutation SNP ENST00000374617.9 exon13 c.C1565T p.A522V exonic ENSG00000227057.10 . nonsynonymous SNV ENSG00000227057.10:ENST00000374617.9:exon13:c.C1565T:p.A522V 6p21.32 C3L-00622 . . . . . . . . . 6.20 T T B B D D M T N 0.343 T T T 0.089 0.494 0.521 0.405 T T T T D D 2.553 22.500 0.993 D N 0.169 3.171 0.276 3.582 1.000 0.672 0.702 0.702 0.711 . 5.190 4.260 2.077 1.162 0.660 0.973 0.987 0.942 662 . . . . WDR46 131 0 234 25 0.0965250965250965 TRUE TRUE ENSG00000124507.11 . BCM GRCh38.p13 chr6 34530301 34530301 + G G C Missense_Mutation SNP ENST00000244458.7 exon7 c.G847C p.D283H exonic ENSG00000124507.11 . nonsynonymous SNV ENSG00000124507.11:ENST00000244458.7:exon7:c.G847C:p.D283H 6p21.31 C3L-00622 . . . . . . . . . 18.20 D D D D D D M T D 0.980 D T D 0.673 0.469 0.795 1.490 D D D D D D 4.338 29.900 0.996 D D 0.930 11.850 0.841 11.458 1.000 0.706 0.588 0.710 0.542 . 4.510 4.510 9.915 1.083 0.676 1.000 0.998 0.989 632 F-BAR_domain . . . PACSIN1 79 0 264 26 0.0896551724137931 TRUE TRUE ENSG00000167910.4 . BCM GRCh38.p13 chr8 58491693 58491693 + A A G Missense_Mutation SNP ENST00000301645.4 exon6 c.T1297C p.Y433H exonic ENSG00000167910.4 . nonsynonymous SNV ENSG00000167910.4:ENST00000301645.4:exon6:c.T1297C:p.Y433H 8q12.1 C3L-00622 . . . . . . . . . 13.20 D D D D D D M T D 0.185 T T D 0.529 0.759 0.891 0.534 T D T T D T 3.719 25.500 0.998 D D 0.432 4.546 0.425 4.537 1.000 0.487 0.574 0.574 0.542 . 5.870 4.720 7.508 0.325 -0.051 1.000 0.997 0.993 959 . . . . CYP7A1 210 0 443 33 0.069327731092437 TRUE TRUE ENSG00000197467.15 . BCM GRCh38.p13 chr10 69880518 69880518 + G G A Missense_Mutation SNP ENST00000398978.8 exon6 c.G451A p.A151T exonic ENSG00000197467.15 . nonsynonymous SNV ENSG00000197467.15:ENST00000398978.8:exon6:c.G451A:p.A151T 10q22.1 C3L-00622 0.0071 0.0164 0.0029 0 0.0075 0.0091 0.0071 0.0004 rs144774788 8.19 T T D D D D L D N 0.434 D D . 0.308 . 0.877 0.130 T T T T T T 3.165 23.800 0.998 D N 0.464 4.771 0.503 5.190 1.000 0.706 0.590 0.468 0.613 . 5.420 5.420 3.335 1.176 0.676 1.000 0.974 0.866 554 . . . ID=COSV62575253;OCCURENCE=1(pancreas) COL13A1 147 0 233 21 0.0826771653543307 TRUE TRUE ENSG00000177363.5 . BCM GRCh38.p13 chr11 62687872 62687872 + C C T Missense_Mutation SNP ENST00000317449.5 exon2 c.G637A p.A213T exonic ENSG00000177363.5 . nonsynonymous SNV ENSG00000177363.5:ENST00000317449.5:exon2:c.G637A:p.A213T 11q12.3 C3L-00622 . . . . . . . . . 5.19 T T D P U D L . N 0.165 T T D 0.154 0.355 0.497 0.439 T T T T D T 2.906 23.200 0.999 D N 0.335 3.964 0.345 3.991 1.000 0.680 0.547 0.601 0.555 . 5.350 5.350 1.712 1.025 0.598 0.918 0.541 0.848 439 . . . ID=COSV54015532;OCCURENCE=1(large_intestine) LRRN4CL 10 0 42 5 0.106382978723404 TRUE TRUE ENSG00000174669.12 . BCM GRCh38.p13 chr11 66365964 66365964 + C C T Missense_Mutation SNP ENST00000357440.7 exon10 c.G1031A p.G344E exonic ENSG00000174669.12 . nonsynonymous SNV ENSG00000174669.12:ENST00000357440.7:exon10:c.G1031A:p.G344E 11q13.2 C3L-00622 . . . . . . . . . 18.20 D D D D N D H D D 0.994 D D D 0.910 0.963 0.751 0.649 T D D D D D 3.913 26.400 0.997 D D 0.693 7.027 0.623 6.529 1.000 0.632 0.694 0.698 0.655 . 5.550 4.640 7.761 0.947 0.599 1.000 0.998 0.996 61 . . . . SLC29A2 416 0 910 68 0.0695296523517382 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-00622 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 217 0 452 53 0.104950495049505 TRUE TRUE ENSG00000180998.12 . BCM GRCh38.p13 chr14 52553380 52553380 + G G A Missense_Mutation SNP ENST00000321662.11 exon1 c.G233A p.R78Q exonic ENSG00000180998.12 . nonsynonymous SNV ENSG00000180998.12:ENST00000321662.11:exon1:c.G233A:p.R78Q 14q22.1 C3L-00622 . . . . . . . . . 12.20 D D D P N D M T D 0.640 T T D 0.297 0.484 0.326 1.624 D T T T D D 4.543 32 0.998 D D 0.531 5.288 0.467 4.871 1.000 0.564 0.552 0.520 0.492 . 4.720 4.720 7.932 1.176 0.616 1.000 1.000 0.979 777 . . . . GPR137C 190 0 479 50 0.0945179584120983 TRUE TRUE ENSG00000047578.13 . BCM GRCh38.p13 chr16 27677894 27677894 + G G T Missense_Mutation SNP ENST00000261588.9 exon7 c.G706T p.D236Y exonic ENSG00000047578.13 . nonsynonymous SNV ENSG00000047578.13:ENST00000261588.9:exon7:c.G706T:p.D236Y 16p12.1 C3L-00622 . . . . . . . . . 2.20 T T D P N N M T N 0.425 T T T 0.061 0.190 0.322 0.679 T T T T T T 1.941 18.800 0.934 N N -0.485 1.206 -0.655 0.965 0.999 0.615 0.634 0.659 0.662 . 5.480 1.180 0.418 0.203 -0.244 0.002 0.001 0.000 561 . . . . KIAA0556 317 0 621 65 0.0947521865889213 TRUE TRUE ENSG00000141503.17 . BCM GRCh38.p13 chr17 4895122 4895122 + G G A Missense_Mutation SNP ENST00000355280.11 exon25 c.G2965A p.V989M exonic ENSG00000141503.17 . nonsynonymous SNV ENSG00000141503.17:ENST00000355280.11:exon25:c.G2965A:p.V989M 17p13.2 C3L-00622 7.485e-05 0.0001 0 0 0.0005 7.535e-05 0 0 rs200254448 9.20 D T D P D D M T N 0.509 T T D 0.213 . 0.630 0.515 T T T T T D 3.921 26.500 0.999 D D 0.693 7.020 0.700 7.756 1.000 0.672 0.702 0.702 0.711 . 5.300 5.300 5.310 1.176 0.676 1.000 0.995 0.997 260 . . . . MINK1 177 0 372 49 0.116389548693587 TRUE NA ENSG00000276231.5 . BCM GRCh38.p13 chr17 8829706 8829706 + A A C Missense_Mutation SNP ENST00000619866.5 exon10 c.T889G p.W297G exonic ENSG00000276231.5 . nonsynonymous SNV ENSG00000276231.5:ENST00000619866.5:exon10:c.T889G:p.W297G 17p13.1 C3L-00622 . . . . . . . . . 8.11 . D D D . . . . . 0.841 . . D . . 0.530 . T T D D . T 3.920 26.500 0.924 D D . . . . 1.000 0.284 0.279 0.084 0.042 . 4.730 4.730 3.463 1.312 0.756 1.000 0.995 0.954 911 . . . . PIK3R6 208 0 324 29 0.0821529745042493 TRUE TRUE ENSG00000215644.10 . BCM GRCh38.p13 chr17 81812901 81812901 + C C T Missense_Mutation SNP ENST00000400723.8 exon12 c.C1132T p.R378C exonic ENSG00000215644.10 . nonsynonymous SNV ENSG00000215644.10:ENST00000400723.8:exon12:c.C1132T:p.R378C 17q25.3 C3L-00622 . . . . . . . . . 14.19 D D D D . D M T D 0.629 T T D 0.505 0.545 0.830 0.007 T T D D D D 4.338 29.900 0.999 D D 0.759 8.037 0.647 6.865 1.000 0.516 0.610 0.576 0.563 . 4.710 4.710 7.744 1.026 0.599 1.000 0.256 0.394 . GPCR,_family_2-like . . . GCGR 155 0 449 39 0.0799180327868853 TRUE NA ENSG00000167658.16 . BCM GRCh38.p13 chr19 3983003 3983003 + G G A Missense_Mutation SNP ENST00000309311.7 exon4 c.C416T p.T139M exonic ENSG00000167658.16 . nonsynonymous SNV ENSG00000167658.16:ENST00000309311.7:exon4:c.C416T:p.T139M 19p13.3 C3L-00622 . . . . . . . . . 17.20 D D P P D D H T D 0.975 D D D 0.873 0.931 0.976 . D D D D D D 4.085 27.600 0.998 D D 0.578 5.706 0.432 4.593 1.000 0.731 0.672 0.750 0.639 . 5.150 4.110 9.845 1.176 0.676 1.000 0.763 0.685 804 Small_GTP-binding_protein_domain;Transcription_factor,_GTP-binding_domain . . . EEF2 219 1 523 46 0.0808435852372583 TRUE TRUE ENSG00000130377.13 . BCM GRCh38.p13 chr19 6183157 6183157 + C C T Nonsense_Mutation SNP ENST00000586696.5 exon10 c.C1207T p.Q403X exonic ENSG00000130377.13 . stopgain ENSG00000130377.13:ENST00000586696.5:exon10:c.C1207T:p.Q403X 19p13.3 C3L-00622 . . . . . . . . . 3.6 . . . . N A . . . 0.096 . . . . . . . . . D D . . 5.853 35 0.921 N N -0.457 1.262 -0.836 0.707 0.000 0.554 0.588 0.316 0.530 . 5.040 -4.010 0.900 -0.730 -0.873 0.001 0.000 0.081 923 AMP-dependent_synthetase/ligase . . . ACSBG2 355 0 668 74 0.0997304582210243 TRUE TRUE ENSG00000126259.19 . BCM GRCh38.p13 chr19 35863034 35863034 + C C T Missense_Mutation SNP ENST00000360202.9 exon13 c.C1723T p.R575W exonic ENSG00000126259.19 . nonsynonymous SNV ENSG00000126259.19:ENST00000360202.9:exon13:c.C1723T:p.R575W 19q13.12 C3L-00622 6.308e-05 0 0 0 0 0.0001 0 0 rs753993342 5.16 T D . . N N . T D 0.472 T T D 0.125 0.329 0.805 0.180 T . T T D D 3.423 24.500 0.999 N N -0.183 1.925 -0.324 1.515 0.346 0.677 0.610 0.673 0.530 . 4.980 3.930 0.956 -0.291 0.599 0.007 0.495 0.313 851 . . . . KIRREL2 153 0 286 26 0.0833333333333333 TRUE NA ENSG00000170848.16 . BCM GRCh38.p13 chr19 42910822 42910822 + A A G Missense_Mutation SNP ENST00000292125.6 exon3 c.T464C p.L155S exonic ENSG00000170848.16 . nonsynonymous SNV ENSG00000170848.16:ENST00000292125.6:exon3:c.T464C:p.L155S 19q13.31 C3L-00622 . . . . . . . . . 0.18 T T P P . N N T N 0.075 T T T 0.069 0.378 0.099 . . T T T T T 0.221 3.365 0.225 N N -1.488 0.085 -1.641 0.064 0.003 0.554 0.574 0.574 0.568 . 1.640 -3.280 -0.205 -0.197 0.252 0.000 0.001 0.038 712 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . PSG6 89 0 227 25 0.0992063492063492 NA TRUE ENSG00000026559.14 . BCM GRCh38.p13 chr20 51004310 51004310 + G G A Missense_Mutation SNP ENST00000371571.5 exon3 c.C1271T p.T424M exonic ENSG00000026559.14 . nonsynonymous SNV ENSG00000026559.14:ENST00000371571.5:exon3:c.C1271T:p.T424M 20q13.13 C3L-00622 . . . . . . . . . 20.20 D D D D D D H D D 0.961 D D D 0.905 0.901 0.988 2.550 D D D D D D 4.110 27.800 0.999 D D 0.889 10.758 0.727 8.288 1.000 0.718 0.610 0.571 0.542 . 5.490 5.490 9.942 1.172 0.672 1.000 0.092 0.749 846 Ion_transport_domain . . ID=COSV65367890;OCCURENCE=1(oesophagus),3(large_intestine),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(endometrium) KCNG1 131 0 290 28 0.0880503144654088 TRUE TRUE ENSG00000090432.7 . BCM GRCh38.p13 chr1 20501374 20501374 + G G A Silent SNP ENST00000264198.5 exon4 c.C375T p.P125P exonic ENSG00000090432.7 . synonymous SNV ENSG00000090432.7:ENST00000264198.5:exon4:c.C375T:p.P125P 1p36.12 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUL1 99 0 158 17 0.0971428571428571 TRUE TRUE ENSG00000118960.13 . BCM GRCh38.p13 chr2 20638600 20638600 + C C T Silent SNP ENST00000304031.8 exon4 c.G459A p.L153L exonic ENSG00000118960.13 . synonymous SNV ENSG00000118960.13:ENST00000304031.8:exon4:c.G459A:p.L153L 2p24.1 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HS1BP3 157 0 396 63 0.137254901960784 TRUE TRUE ENSG00000197415.12 . BCM GRCh38.p13 chr3 157363538 157363538 + A A G Silent SNP ENST00000362010.7 exon9 c.T1561C p.L521L exonic ENSG00000197415.12 . synonymous SNV ENSG00000197415.12:ENST00000362010.7:exon9:c.T1561C:p.L521L 3q25.32 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VEPH1 137 1 302 41 0.119533527696793 TRUE TRUE ENSG00000138759.19 . BCM GRCh38.p13 chr4 78379790 78379790 + G G A Silent SNP ENST00000512123.4 exon27 c.G3357A p.K1119K exonic ENSG00000138759.19 . synonymous SNV ENSG00000138759.19:ENST00000512123.4:exon27:c.G3357A:p.K1119K 4q21.21 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRAS1 228 0 493 37 0.069811320754717 TRUE TRUE ENSG00000253910.2 . BCM GRCh38.p13 chr5 141360735 141360735 + G G A Silent SNP ENST00000522605.1 exon1 c.G600A p.L200L exonic ENSG00000253910.2 . synonymous SNV ENSG00000253910.2:ENST00000522605.1:exon1:c.G600A:p.L200L 5q31.3 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGB2 189 0 393 29 0.0687203791469194 TRUE TRUE ENSG00000012232.9 . BCM GRCh38.p13 chr8 28716092 28716092 + C C T Silent SNP ENST00000220562.9 exon3 c.C33T p.G11G exonic ENSG00000012232.9 . synonymous SNV ENSG00000012232.9:ENST00000220562.9:exon3:c.C33T:p.G11G 8p21.1 C3L-00622 9.109e-05 9.664e-05 0.0008 0 0 1.506e-05 0 0 rs564285682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55038472;OCCURENCE=1(large_intestine) EXTL3 92 0 178 20 0.101010101010101 TRUE TRUE ENSG00000197416.4 . BCM GRCh38.p13 chr8 81531250 81531250 + C C T Silent SNP ENST00000360464.4 exon1 c.G66A p.K22K exonic ENSG00000197416.4 . synonymous SNV ENSG00000197416.4:ENST00000360464.4:exon1:c.G66A:p.K22K 8q21.13 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FABP12 203 0 372 25 0.0629722921914358 TRUE TRUE ENSG00000022567.9 . BCM GRCh38.p13 chr8 141215807 141215807 + G G A Silent SNP ENST00000517878.5 exon6 c.C1893T p.I631I exonic ENSG00000022567.9 . synonymous SNV ENSG00000022567.9:ENST00000517878.5:exon6:c.C1893T:p.I631I 8q24.3 C3L-00622 2.477e-05 0 0 0 0 4.511e-05 0 0 rs202082870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC45A4 266 0 740 70 0.0864197530864197 TRUE NA ENSG00000182771.19 . BCM GRCh38.p13 chr10 86363957 86363957 + G G A Silent SNP ENST00000327946.12 exon2 c.C219T p.F73F exonic ENSG00000182771.19 . synonymous SNV ENSG00000182771.19:ENST00000327946.12:exon2:c.C219T:p.F73F 10q23.2 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRID1 111 0 176 28 0.137254901960784 TRUE TRUE ENSG00000148843.15 . BCM GRCh38.p13 chr10 103418562 103418562 + G G A Silent SNP ENST00000369797.8 exon15 c.G2034A p.L678L exonic ENSG00000148843.15 . synonymous SNV ENSG00000148843.15:ENST00000369797.8:exon15:c.G2034A:p.L678L 10q24.33 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDCD11 175 0 388 32 0.0761904761904762 TRUE TRUE ENSG00000100523.16 . BCM GRCh38.p13 chr14 53054585 53054585 + T T G Silent SNP ENST00000673822.2 exon11 c.A2290C p.R764R exonic ENSG00000100523.16 . synonymous SNV ENSG00000100523.16:ENST00000673822.2:exon11:c.A2290C:p.R764R 14q22.1 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDHD1 98 0 206 29 0.123404255319149 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675994 7675994 + C C T Silent SNP ENST00000269305.8 exon4 c.G375A p.T125T exonic ENSG00000141510.17 . synonymous SNV ENSG00000141510.17:ENST00000269305.8:exon4:c.G375A:p.T125T 17p13.1 C3L-00622 . . . . . . . . rs55863639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52718605;OCCURENCE=2(oesophagus),1(meninges),9(large_intestine),5(central_nervous_system),2(biliary_tract),5(stomach),6(haematopoietic_and_lymphoid_tissue),1(kidney),1(urinary_tract),1(skin),2(prostate),2(lung),1(thyroid),5(upper_aerodigestive_tract) TP53 165 0 302 20 0.062111801242236 TRUE TRUE ENSG00000160323.18 . BCM GRCh38.p13 chr9 133459230 133459230 + C C G 3'UTR SNP NA NA NA NA UTR3 ENSG00000160323.18 ENST00000371929.7:c.*50C>G . . 9q34.2 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS13 400 0 947 94 0.090297790585975 TRUE NA ENSG00000141837.21 . BCM GRCh38.p13 chr19 13228757 13228757 + C C T Intron SNP NA NA NA NA intronic ENSG00000141837.21 . . . 19p13.13 C3L-00622 . . . . . . . . . 6.13 . T . . . D . T . . T T D 0.251 0.395 0.751 . . T T T D D 1.960 18.950 0.982 D D 0.449 4.663 0.380 4.222 1.000 0.646 0.685 0.645 0.563 . 4.040 2.980 7.804 1.026 0.547 1.000 1.000 0.998 851 Voltage-dependent_L-type_calcium_channel,_IQ-associated_domain . . ID=COSV64214551;OCCURENCE=1(lung) CACNA1A 104 0 176 14 0.0736842105263158 TRUE TRUE ENSG00000229807.12 . BCM GRCh38.p13 chrX 73825322 73825322 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229807.12;ENSG00000270641.1 . . . Xq13.2 C3L-00622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIST 66 0 113 27 0.192857142857143 TRUE NA ENSG00000117143.13 . BCM GRCh38.p13 chr1 162566192 162566192 + T T A Missense_Mutation SNP ENST00000271469.7 exon2 c.T124A p.F42I exonic ENSG00000117143.13 . nonsynonymous SNV ENSG00000117143.13:ENST00000271469.7:exon2:c.T124A:p.F42I 1q23.3 C3N-01381 . . . . . . . . . 6.20 T T B B D D L T N 0.638 T T T 0.062 0.323 0.249 1.060 T T T T D D 2.420 22.200 0.965 D D -0.107 2.153 0.074 2.630 1.000 0.706 0.663 0.710 0.714 . 5.200 5.200 4.388 1.138 0.609 1.000 1.000 0.994 663 . . . . UAP1 362 3 533 70 0.116086235489221 TRUE TRUE ENSG00000143493.13 . BCM GRCh38.p13 chr1 211976618 211976618 + C C T Nonsense_Mutation SNP ENST00000366994.8 exon12 c.G1572A p.W524X exonic ENSG00000143493.13 . stopgain ENSG00000143493.13:ENST00000366994.8:exon12:c.G1572A:p.W524X 1q32.3 C3N-01381 . . . . . . . . . 5.6 . . . . D A . . . 0.654 . . . . . . . . . D D . . 7.544 38 0.996 D N 1.006 14.113 0.907 14.066 1.000 0.732 0.725 0.744 0.634 . 5.870 5.870 7.618 1.026 0.599 1.000 0.997 0.998 675 . . . . INTS7 184 0 276 30 0.0980392156862745 TRUE TRUE ENSG00000185013.16 . BCM GRCh38.p13 chr2 18587540 18587540 + T T - Frame_Shift_Del NA ENST00000359846.6 exon2 c.83delA p.K28Rfs*10 exonic ENSG00000185013.16;ENSG00000250741.6 . frameshift deletion ENSG00000185013.16:ENST00000359846.6:exon2:c.83delA:p.K28Rfs*10,ENSG00000250741.6:ENST00000532967.5:exon2:c.83delA:p.K28Rfs*10 2p24.2 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NT5C1B 249 1 310 22 0.0662650602409639 NA TRUE ENSG00000197410.14 . BCM GRCh38.p13 chr4 154234987 154234987 + G G A Missense_Mutation SNP ENST00000357232.10 exon20 c.C9665T p.T3222M exonic ENSG00000197410.14 . nonsynonymous SNV ENSG00000197410.14:ENST00000357232.10:exon20:c.C9665T:p.T3222M 4q31.3 C3N-01381 3.3e-05 0 8.66e-05 0 0 4.499e-05 0 0 rs771060100 0.11 . . . . N N . . . . T T T 0.032 . . 0.075 T . T T T . -0.193 0.528 0.951 N N -1.076 0.328 -1.093 0.383 0.001 0.487 0.574 0.547 0.564 . 5.940 -3.380 0.354 -0.898 -0.892 0.000 0.016 0.341 744 . . . ID=COSV100600869;OCCURENCE=1(stomach),1(endometrium) DCHS2 205 0 284 30 0.0955414012738854 TRUE NA ENSG00000001561.7 . BCM GRCh38.p13 chr6 46143576 46143576 + C C T Missense_Mutation SNP ENST00000321037.5 exon4 c.C1298T p.S433F exonic ENSG00000001561.7 . nonsynonymous SNV ENSG00000001561.7:ENST00000321037.5:exon4:c.C1298T:p.S433F 6p21.1 C3N-01381 . . . . . . . . . 1.20 T T P B N N M T N 0.175 T T T 0.332 0.518 0.760 0.261 T T T T T T 2.076 19.830 0.998 N N -0.071 2.268 -0.092 2.069 0.936 0.707 0.725 0.676 0.621 . 5.910 4.990 3.060 1.026 0.599 0.029 0.660 0.944 629 . . . . ENPP4 210 0 264 37 0.122923588039867 TRUE TRUE ENSG00000146373.16 . BCM GRCh38.p13 chr6 125045244 125045244 + A A G Missense_Mutation SNP ENST00000521654.6 exon2 c.A916G p.I306V exonic ENSG00000146373.16 . nonsynonymous SNV ENSG00000146373.16:ENST00000521654.6:exon2:c.A916G:p.I306V 6q22.31 C3N-01381 . . . . . . . . . 4.18 T T . . N D N T N 0.293 T T T 0.078 - 0.477 1.001 T T T T D T 2.074 19.820 0.938 D D 0.114 2.944 0.256 3.469 1.000 0.651 0.588 0.653 0.684 . 6.170 5.020 6.731 0.324 0.756 1.000 0.991 0.986 892 . . . . RNF217 129 0 180 20 0.1 TRUE TRUE ENSG00000122641.11 . BCM GRCh38.p13 chr7 41690277 41690277 + C C T Nonsense_Mutation SNP ENST00000242208.5 exon3 c.G654A p.W218X exonic ENSG00000122641.11 . stopgain ENSG00000122641.11:ENST00000242208.5:exon3:c.G654A:p.W218X 7p14.1 C3N-01381 . . . . . . . . . 5.6 . . . . D D . . . 0.856 . . . . . . . . . D D . . 7.527 38 0.998 D N 1.030 14.892 0.938 15.481 1.000 0.707 0.588 0.608 0.714 . 6.060 6.060 7.844 0.947 0.599 1.000 0.996 0.979 861 TGF-beta,_propeptide . . ID=COSV54219472;OCCURENCE=1(stomach),1(endometrium) INHBA 286 0 456 52 0.102362204724409 TRUE TRUE ENSG00000188763.5 . BCM GRCh38.p13 chr7 73435515 73435515 + C C T Missense_Mutation SNP ENST00000344575.5 exon1 c.C1508T p.S503L exonic ENSG00000188763.5 . nonsynonymous SNV ENSG00000188763.5:ENST00000344575.5:exon1:c.C1508T:p.S503L 7q11.23 C3N-01381 . . . . . . . . . 13.20 D T D D U D L D N 0.898 D D D 0.603 0.371 0.855 . T T D D D T 4.077 27.600 0.999 D D 0.664 6.643 0.656 7.001 1.000 0.677 0.547 0.673 0.568 . 5.120 5.120 7.905 1.026 0.599 1.000 0.999 0.905 919 GPCR,_family_2-like;Frizzled/Smoothened,_transmembrane_domain . . ID=COSV59989859;OCCURENCE=1(skin) FZD9 196 0 466 48 0.0933852140077821 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971093 21971093 + C C - Frame_Shift_Del NA ENST00000304494.9 exon2 c.266delG p.G89Afs*57 exonic ENSG00000147889.17 . frameshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.266delG:p.G89Afs*57 9p21.3 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 472 0 840 87 0.0938511326860841 NA TRUE ENSG00000196990.9 . BCM GRCh38.p13 chr9 133580141 133580141 + C C T Missense_Mutation SNP ENST00000673969.1 exon2 c.G83A p.C28Y exonic ENSG00000196990.9 . nonsynonymous SNV ENSG00000196990.9:ENST00000673969.1:exon2:c.G83A:p.C28Y 9q34.2 C3N-01381 . . . . . . . . . 16.19 D D D D D D M . D 0.831 T T D 0.699 0.815 0.177 2.459 D T D D D D 4.107 27.800 0.998 D D 0.649 6.462 0.569 5.857 1.000 0.646 0.563 0.645 0.542 . 3.450 3.450 7.464 1.026 0.599 1.000 0.997 0.971 778 . . . . FAM163B 189 1 341 44 0.114285714285714 TRUE TRUE ENSG00000172572.6 . BCM GRCh38.p13 chr12 20630096 20630096 + C C A Missense_Mutation SNP ENST00000359062.3 exon6 c.C1729A p.Q577K exonic ENSG00000172572.6 . nonsynonymous SNV ENSG00000172572.6:ENST00000359062.3:exon6:c.C1729A:p.Q577K 12p12.2 C3N-01381 . . . . . . . . . 4.20 D T B B N N M T N 0.406 T T T 0.130 0.283 0.646 0.089 T T T T D T 2.155 20.500 0.980 D N -0.111 2.142 0.002 2.365 1.000 0.707 0.574 0.659 0.714 . 5.380 5.380 2.388 1.010 0.580 0.620 0.998 0.993 931 . . . . PDE3A 282 0 512 50 0.0889679715302491 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-01381 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 339 0 524 69 0.116357504215852 TRUE TRUE ENSG00000133116.8 . BCM GRCh38.p13 chr13 33061760 33061760 + A A G Missense_Mutation SNP ENST00000380099.4 exon4 c.A2681G p.Y894C exonic ENSG00000133116.8 . nonsynonymous SNV ENSG00000133116.8:ENST00000380099.4:exon4:c.A2681G:p.Y894C 13q13.1 C3N-01381 . . . . . . . . . 14.19 D D D D D D H T D 0.954 T T D 0.682 0.698 0.821 0.644 T T D D D D 3.330 24.200 0.997 D . 0.751 7.893 0.573 5.902 1.000 0.554 0.588 0.547 0.613 . 5.560 5.560 7.269 1.312 0.756 1.000 0.183 0.689 542 . . . . KL 152 0 204 22 0.0973451327433628 TRUE TRUE ENSG00000070182.21 . BCM GRCh38.p13 chr14 64770945 64770945 + C C T Missense_Mutation SNP ENST00000389720.4 exon27 c.G5738A p.R1913H exonic ENSG00000070182.21 . nonsynonymous SNV ENSG00000070182.21:ENST00000389720.4:exon27:c.G5738A:p.R1913H 14q23.3 C3N-01381 0.0003 0 0.0020 0 0 0.0002 0.0011 0 rs201489818 11.20 D D P B D D M T D 0.601 T T D 0.355 0.549 0.627 0.365 T D T T T D 3.434 24.500 0.999 D D 0.529 5.270 0.470 4.899 1.000 0.701 0.563 0.717 0.542 . 5.140 4.250 6.151 1.026 0.599 1.000 0.923 0.994 448 . . . . SPTB 450 0 960 89 0.0848427073403241 TRUE NA ENSG00000066933.16 . BCM GRCh38.p13 chr15 71898704 71898704 + - NA T Frame_Shift_Ins NA ENST00000356056.10 exon25 c.3798dupA p.V1267Sfs*5 exonic ENSG00000066933.16 . frameshift insertion ENSG00000066933.16:ENST00000356056.10:exon25:c.3798dupA:p.V1267Sfs*5 15q23 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO9A NA NA NA NA NA NA NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674221 7674221 + G G A Missense_Mutation SNP ENST00000269305.8 exon7 c.C742T p.R248W exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.C742T:p.R248W 17p13.1 C3N-01381 8.24e-06 0 0 0 0 1.498e-05 0 0 rs121912651 19.20 D D D D D A M D D 0.991 D D D 0.927 0.986 0.984 0.393 T D D D D D 4.158 28.300 0.999 D D 0.506 5.084 0.371 4.161 0.000 0.722 0.702 0.725 0.735 . 4.620 2.560 0.835 1.157 0.672 1.000 0.987 0.874 433 p53,_DNA-binding_domain . . ID=COSV52662035;OCCURENCE=1(salivary_gland),114(breast),1(penis),5(liver),2(genital_tract),65(oesophagus),1(cervix),238(large_intestine),62(central_nervous_system),12(biliary_tract),49(ovary),4(vulva),2(pleura),2(bone),9(NS),63(haematopoietic_and_lymphoid_tissue),52(stomach),14(kidney),11(soft_tissue),27(urinary_tract),40(pancreas),52(skin),14(prostate),47(lung),8(thyroid),51(upper_aerodigestive_tract),1(thymus),30(endometrium) TP53 353 0 578 49 0.0781499202551834 TRUE TRUE ENSG00000109061.10 . BCM GRCh38.p13 chr17 10500728 10500728 + C C T Missense_Mutation SNP ENST00000226207.6 exon28 c.G3763A p.A1255T exonic ENSG00000109061.10 . nonsynonymous SNV ENSG00000109061.10:ENST00000226207.6:exon28:c.G3763A:p.A1255T 17p13.1 C3N-01381 0.0002 9.61e-05 0 0 0 0.0003 0 0 rs142605633 2.20 T T B B N N N D N 0.033 T T D 0.143 . 0.451 0.088 T T T T T T -0.490 0.125 0.842 N N -1.320 0.154 -1.140 0.336 0.000 0.487 0.590 0.574 0.564 . 5.450 3.120 0.016 -0.172 -0.781 0.005 0.888 0.459 172 Myosin_tail . . ID=COSV56846412;OCCURENCE=1(cervix),2(large_intestine),1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue) MYH1 273 0 379 59 0.134703196347032 TRUE TRUE ENSG00000154258.17 . BCM GRCh38.p13 chr17 68992230 68992230 + G G A Nonsense_Mutation SNP ENST00000340001.9 exon28 c.C3661T p.R1221X exonic ENSG00000154258.17 . stopgain ENSG00000154258.17:ENST00000340001.9:exon28:c.C3661T:p.R1221X 17q24.2 C3N-01381 8.031e-05 0 0.0003 0 0 6.884e-05 0 7.476e-05 rs377378801 3.6 . . . . N A . . . 0.250 . . . . . . . . . D D . . 5.185 33 0.996 N N 0.146 3.073 -0.083 2.096 0.001 0.651 0.588 0.547 0.684 . 5.260 4.290 0.518 -0.195 -1.091 0.028 0.015 0.216 976 . . . . ABCA9 86 0 121 10 0.0763358778625954 TRUE NA ENSG00000105707.14 . BCM GRCh38.p13 chr19 35060745 35060745 + C C T Missense_Mutation SNP ENST00000262626.6 exon9 c.C739T p.R247W exonic ENSG00000105707.14 . nonsynonymous SNV ENSG00000105707.14:ENST00000262626.6:exon9:c.C739T:p.R247W 19q13.11 C3N-01381 2.504e-05 0.0002 0 0 0 0 0 6.443e-05 rs556783952 12.20 D D D P N D L D N 0.498 D D D 0.497 0.519 0.504 1.219 T D T T T D 3.466 24.600 0.999 D D 0.337 3.974 0.379 4.213 0.049 0.635 0.590 0.644 0.542 . 4.760 4.760 3.059 1.026 0.599 0.994 0.975 0.997 900 Serine_proteases,_trypsin_domain . . ID=COSV52883028;OCCURENCE=3(large_intestine) HPN 151 0 578 45 0.07223113964687 TRUE TRUE ENSG00000105221.18 . BCM GRCh38.p13 chr19 40236350 40236350 + G G C Missense_Mutation SNP ENST00000392038.7 exon10 c.C867G p.I289M exonic ENSG00000105221.18 . nonsynonymous SNV ENSG00000105221.18:ENST00000392038.7:exon10:c.C867G:p.I289M 19q13.2 C3N-01381 . . . . . . . . . 13.20 D D P P D D M T D 0.829 T T D 0.393 0.761 0.727 1.833 D D T T D D 3.435 24.500 0.996 D D 0.269 3.623 0.263 3.508 0.656 0.737 0.702 0.733 0.714 . 5.690 4.650 0.455 1.172 0.672 0.999 1.000 1.000 867 Protein_kinase_domain;Protein_Kinase_B_beta,_catalytic_domain . . ID=COSV60908462;OCCURENCE=3(breast) AKT2 420 0 1278 70 0.0519287833827893 TRUE TRUE ENSG00000248385.8 . BCM GRCh38.p13 chr19 54074122 54074122 + C C A Missense_Mutation SNP ENST00000432826.2 exon4 c.G456T p.L152F exonic ENSG00000248385.8 . nonsynonymous SNV ENSG00000248385.8:ENST00000432826.2:exon4:c.G456T:p.L152F 19q13.42 C3N-01381 . . . . . . . . . 0.15 T T . . . N . T N 0.132 T T T 0.023 . 0.014 . T . T T T T -0.944 0.011 0.825 N N -1.924 0.013 -2.021 0.012 0.404 0.487 0.574 0.574 0.564 . 4.010 -8.020 -2.795 -1.138 -0.951 0.000 0.000 0.000 994 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TARM1 399 0 709 128 0.152927120669056 TRUE TRUE ENSG00000149654.11 . BCM GRCh38.p13 chr20 46174853 46174853 + A A C Missense_Mutation SNP ENST00000537909.4 exon12 c.T2140G p.S714A exonic ENSG00000149654.11 . nonsynonymous SNV ENSG00000149654.11:ENST00000537909.4:exon12:c.T2140G:p.S714A 20q13.12 C3N-01381 0 0 0 0 0 0 0 0 rs534273575 0.19 T T B B . N N T N 0.136 T T T 0.059 0.381 0.205 . T T T T T T 0.055 1.720 0.857 N N -1.348 0.140 -1.432 0.136 1.000 0.422 0.600 0.504 0.692 . 2.200 -3.310 -0.791 -0.883 -0.211 0.540 0.007 0.037 529 Cadherin,_cytoplasmic_domain . . . CDH22 55 1 179 12 0.06282722513089 TRUE NA ENSG00000026036.22 . BCM GRCh38.p13 chr20 63659478 63659478 + A A G Missense_Mutation SNP ENST00000492259.6 exon1 c.A76G p.T26A exonic ENSG00000026036.22;ENSG00000258366.9 . nonsynonymous SNV ENSG00000026036.22:ENST00000492259.6:exon1:c.A76G:p.T26A,ENSG00000258366.9:ENST00000370018.7:exon2:c.A76G:p.T26A 20q13.33 C3N-01381 . . . . . . . . . 1.20 T T B B N N N T N 0.027 T T D 0.024 0.362 0.610 . T T T T T T 0.566 7.177 0.861 N N -1.134 0.277 -1.024 0.459 1.000 0.789 0.686 0.768 0.658 . 4.860 -1.590 -0.080 -0.060 -0.070 0.002 0.994 0.991 . Helicase_superfamily_1/2,_ATP-binding_domain,_DinG/Rad3-type;Helicase-like,_DEXD_box_c2_type;Helicase/UvrB,_N-terminal . . . RTEL1-TNFRSF6B 280 0 466 41 0.0808678500986193 TRUE TRUE ENSG00000147274.14 . BCM GRCh38.p13 chrX 136879369 136879369 + T T G Missense_Mutation SNP ENST00000320676.11 exon2 c.A59C p.N20T exonic ENSG00000147274.14 . nonsynonymous SNV ENSG00000147274.14:ENST00000320676.11:exon2:c.A59C:p.N20T Xq26.3 C3N-01381 . . . . . . . . . 4.19 T T B B U D N T D 0.376 T T T 0.120 0.511 0.751 1.576 T T T T D T 2.562 22.600 0.775 D . . . . . 1.000 . . . . . 4.310 3.130 2.823 1.138 0.665 1.000 1.000 0.996 681 RNA_recognition_motif_domain;RNA_recognition_motif_domain,_eukaryote . . . RBMX 278 0 463 29 0.0589430894308943 TRUE TRUE ENSG00000159217.10 . BCM GRCh38.p13 chr17 49041501 49041501 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000159217.10 ENST00000290341.8:exon8:c.941+1G>A . . 17q21.32 C3N-01381 8.241e-06 0 0 0 0 1.5e-05 0 0 rs751435920 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.558 34 0.996 D . 1.170 21.313 1.000 18.831 1.000 0.116 0.060 0.172 0.118 0.987 4.940 4.940 9.968 1.176 0.676 1.000 0.997 0.868 358 . . . ID=COSV99288399;OCCURENCE=1(endometrium) IGF2BP1 149 0 252 24 0.0869565217391304 TRUE NA ENSG00000198771.11 . BCM GRCh38.p13 chr1 167697647 167697647 + G G A Silent SNP ENST00000367854.8 exon6 c.G1023A p.E341E exonic ENSG00000198771.11 . synonymous SNV ENSG00000198771.11:ENST00000367854.8:exon6:c.G1023A:p.E341E 1q24.2 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RCSD1 141 0 222 27 0.108433734939759 TRUE TRUE ENSG00000115806.13 . BCM GRCh38.p13 chr2 170950224 170950224 + T T G Silent SNP ENST00000234160.5 exon4 c.T369G p.P123P exonic ENSG00000115806.13 . synonymous SNV ENSG00000115806.13:ENST00000234160.5:exon4:c.T369G:p.P123P 2q31.1 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GORASP2 245 0 286 34 0.10625 TRUE TRUE ENSG00000159069.14 . BCM GRCh38.p13 chr9 136942068 136942068 + G G A Silent SNP ENST00000325285.8 exon6 c.C1074T p.L358L exonic ENSG00000159069.14 . synonymous SNV ENSG00000159069.14:ENST00000325285.8:exon6:c.C1074T:p.L358L 9q34.3 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXW5 77 0 229 49 0.176258992805755 TRUE NA ENSG00000181090.21 . BCM GRCh38.p13 chr9 137716693 137716693 + C C T Silent SNP ENST00000460843.6 exon3 c.C153T p.D51D exonic ENSG00000181090.21 . synonymous SNV ENSG00000181090.21:ENST00000460843.6:exon3:c.C153T:p.D51D 9q34.3 C3N-01381 5.896e-05 0 0.0003 0 0 4.595e-05 0 0 rs765396242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EHMT1 113 0 152 13 0.0787878787878788 TRUE NA ENSG00000133083.14 . BCM GRCh38.p13 chr13 36126054 36126054 + G G A Silent SNP ENST00000360631.7 exon2 c.C84T p.N28N exonic ENSG00000133083.14 . synonymous SNV ENSG00000133083.14:ENST00000360631.7:exon2:c.C84T:p.N28N 13q13.3 C3N-01381 . . . . . . . . rs373323934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55173057;OCCURENCE=2(breast),1(liver),2(pancreas) DCLK1 199 0 360 41 0.102244389027431 TRUE TRUE ENSG00000140955.11 . BCM GRCh38.p13 chr16 84195974 84195974 + C C T Silent SNP ENST00000315906.10 exon7 c.C1212T p.A404A exonic ENSG00000140955.11 . synonymous SNV ENSG00000140955.11:ENST00000315906.10:exon7:c.C1212T:p.A404A 16q24.1 C3N-01381 0.3322 0.2018 0.5150 0.2657 0.3334 0.3258 0.3365 0.3402 rs2303239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51892321;OCCURENCE=4(large_intestine),1(skin),3(lung),1(thyroid) ADAD2 221 0 612 65 0.0960118168389956 TRUE TRUE ENSG00000101230.6 . BCM GRCh38.p13 chr20 13299372 13299372 + C C A Silent SNP ENST00000262487.5 exon6 c.C1308A p.A436A exonic ENSG00000101230.6 . synonymous SNV ENSG00000101230.6:ENST00000262487.5:exon6:c.C1308A:p.A436A 20p12.1 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52604606;OCCURENCE=1(lung) ISM1 136 0 262 29 0.0996563573883162 TRUE TRUE ENSG00000128573.26 . BCM GRCh38.p13 chr7 114690050 114690050 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000128573.26 ENST00000350908.9:c.*124C>T . . 7q31.1 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXP2 420 0 571 47 0.0760517799352751 TRUE NA ENSG00000166575.17 . BCM GRCh38.p13 chr11 87327537 87327537 + G G T 3'UTR SNP NA NA NA NA UTR3 ENSG00000166575.17 ENST00000305494.6:c.*6204G>T . . 11q14.2 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM135 112 0 221 24 0.0979591836734694 TRUE NA ENSG00000261879.7 . BCM GRCh38.p13 chr17 5214801 5214801 + T T C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000261879.7 . . . 17p13.2 C3N-01381 . . . . . . . . . 0.12 . T B B . N . T . 0.102 . . T . . 0.040 . . T T T . T -0.274 0.353 0.124 N N . . . . 0.001 0.563 0.654 0.547 0.613 . 0.149 -0.298 -2.163 -2.086 -2.459 0.001 0.001 0.001 488 . . . . AC087500.1 24 0 41 3 0.0681818181818182 TRUE NA ENSG00000131943.18 . BCM GRCh38.p13 chr19 29701504 29701504 + A A G 3'Flank SNP NA NA NA NA downstream ENSG00000131943.18 dist=899 . . 19q12 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf12 565 1 831 345 0.293367346938776 TRUE NA ENSG00000102145.15 . BCM GRCh38.p13 chrX 48791186 48791187 + CC CC AT Unknown MNP ENST00000376670.9 exon2 c.77_78delinsAT p.S26Y exonic ENSG00000102145.15 . nonframeshift substitution ENSG00000102145.15:ENST00000376670.9:exon2:c.77_78delinsAT:p.S26Y Xp11.23 C3N-01381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GATA1 318 1 651 22 0.0326894502228826 TRUE NA ENSG00000180758.12 . BCM GRCh38.p13 chr1 9104552 9104552 + G G C Missense_Mutation SNP ENST00000377411.5 exon4 c.C875G p.S292C exonic ENSG00000180758.12 . nonsynonymous SNV ENSG00000180758.12:ENST00000377411.5:exon4:c.C875G:p.S292C 1p36.22 C3L-01703 . . . . . . . . . 8.20 D D P P D D M T N 0.296 T T T 0.147 . 0.151 0.310 T T T T D T 3.162 23.800 0.984 D D 0.104 2.901 0.056 2.562 1.000 0.707 0.725 0.609 0.655 . 4.970 4.970 6.850 1.172 0.672 0.995 0.118 0.121 850 . . . . GPR157 247 0 299 41 0.120588235294118 TRUE TRUE ENSG00000177272.9 . BCM GRCh38.p13 chr1 110673711 110673711 + G G A Missense_Mutation SNP ENST00000369769.4 exon1 c.C1099T p.R367C exonic ENSG00000177272.9 . nonsynonymous SNV ENSG00000177272.9:ENST00000369769.4:exon1:c.C1099T:p.R367C 1p13.3 C3L-01703 . . . . . . . . . 19.20 D D D D U D H D D 0.892 D D D 0.874 0.881 0.966 . D D D D D D 4.560 32 0.999 D D 1.004 14.060 0.875 12.713 1.000 0.677 0.609 0.673 0.530 . 5.470 5.470 2.971 1.176 0.676 1.000 1.000 1.000 872 Ion_transport_domain . . ID=COSV63901810;OCCURENCE=2(large_intestine) KCNA3 343 1 468 74 0.136531365313653 TRUE TRUE ENSG00000162843.17 . BCM GRCh38.p13 chr1 241683566 241683566 + G G A Missense_Mutation SNP ENST00000366552.6 exon6 c.G674A p.R225Q exonic ENSG00000162843.17 . nonsynonymous SNV ENSG00000162843.17:ENST00000366552.6:exon6:c.G674A:p.R225Q 1q43 C3L-01703 . . . . . . . . rs181076489 2.18 T D . . N N M T N 0.085 T T T 0.030 . 0.124 0.115 T T T T T T 2.215 21.000 0.999 N N -0.174 1.949 -0.194 1.801 0.025 0.487 0.574 0.574 0.564 . 5.210 3.340 1.116 0.223 -0.167 0.003 0.720 0.657 857 . . . . WDR64 362 1 463 51 0.0992217898832685 TRUE NA ENSG00000144285.21 . BCM GRCh38.p13 chr2 166045101 166045101 + C C T Missense_Mutation SNP ENST00000303395.8 exon12 c.G1604A p.R535H exonic ENSG00000144285.21 . nonsynonymous SNV ENSG00000144285.21:ENST00000303395.8:exon12:c.G1604A:p.R535H 2q24.3 C3L-01703 8.239e-06 0 8.64e-05 0 0 0 0 0 rs184524479 8.20 T T B B D D L T D 0.549 T T D 0.174 . 0.643 0.856 T D T T D D 2.126 20.300 0.966 D N -0.193 1.896 -0.005 2.343 0.001 0.560 0.574 0.527 0.564 . 6.170 4.330 2.479 1.026 0.599 1.000 1.000 0.998 516 Voltage-gated_Na+_ion_channel,_cytoplasmic_domain . . ID=COSV57677537;OCCURENCE=1(stomach) SCN1A 359 0 436 70 0.138339920948617 TRUE TRUE ENSG00000163092.21 . BCM GRCh38.p13 chr2 167244420 167244420 + G G A Missense_Mutation SNP ENST00000628543.2 exon7 c.G2503A p.V835I exonic ENSG00000163092.21 . nonsynonymous SNV ENSG00000163092.21:ENST00000628543.2:exon7:c.G2503A:p.V835I 2q24.3 C3L-01703 0.0001 0.0002 0 0.0001 0 0.0002 0 0.0002 rs369068245 1.19 T . B B N D N T N 0.090 T T T 0.023 . 0.014 0.019 T T T T T T -1.511 0.001 0.613 N N -1.759 0.028 -1.686 0.054 0.202 0.487 0.574 0.574 0.564 . 6.080 -2.560 -0.118 -2.404 -3.653 0.041 0.645 0.377 652 . . . . XIRP2 303 0 344 40 0.104166666666667 TRUE NA ENSG00000178568.15 . BCM GRCh38.p13 chr2 211704182 211704182 + A A G Missense_Mutation SNP ENST00000342788.9 exon11 c.T1211C p.I404T exonic ENSG00000178568.15 . nonsynonymous SNV ENSG00000178568.15:ENST00000342788.9:exon11:c.T1211C:p.I404T 2q34 C3L-01703 . . . . . . . . . 18.20 D D P D D D H T D 0.870 D D D 0.699 0.883 0.847 1.101 D D D D D D 4.055 27.400 0.997 D D 0.688 6.958 0.712 7.976 1.000 0.554 0.574 0.602 0.632 . 6.020 6.020 9.325 1.312 0.756 1.000 0.998 0.964 817 Receptor_L-domain . . . ERBB4 413 0 536 56 0.0945945945945946 TRUE TRUE ENSG00000163513.19 . BCM GRCh38.p13 chr3 30674109 30674109 + G G A Missense_Mutation SNP ENST00000295754.10 exon5 c.G1259A p.G420E exonic ENSG00000163513.19 . nonsynonymous SNV ENSG00000163513.19:ENST00000295754.10:exon5:c.G1259A:p.G420E 3p24.1 C3L-01703 . . . . . . . . . 19.20 D D D D D D M T D 0.995 D D D 0.801 0.942 0.960 1.685 D D D D D D 4.276 29.400 0.998 D D 1.106 17.773 1.052 22.444 1.000 0.722 0.590 0.609 0.735 . 5.980 5.980 10.003 1.176 0.674 1.000 1.000 0.993 925 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . TGFBR2 542 0 633 74 0.104667609618105 TRUE TRUE ENSG00000182606.16 . BCM GRCh38.p13 chr3 42223298 42223298 + A A G Missense_Mutation SNP ENST00000327628.10 exon16 c.A2423G p.N808S exonic ENSG00000182606.16 . nonsynonymous SNV ENSG00000182606.16:ENST00000327628.10:exon16:c.A2423G:p.N808S 3p22.1 C3L-01703 . . . . . . . . . 6.20 T D B B D D M T N 0.388 T T T 0.049 0.102 0.667 0.337 T T T T T D 1.641 16.640 0.992 D N -0.288 1.644 -0.194 1.799 0.989 0.732 0.702 0.744 0.714 . 5.320 1.170 0.897 0.269 0.691 0.999 0.993 0.990 667 . . . . TRAK1 263 0 350 52 0.129353233830846 TRUE TRUE ENSG00000168268.11 . BCM GRCh38.p13 chr3 52528670 52528670 + G G A Missense_Mutation SNP ENST00000307076.8 exon4 c.C404T p.A135V exonic ENSG00000168268.11 . nonsynonymous SNV ENSG00000168268.11:ENST00000307076.8:exon4:c.C404T:p.A135V 3p21.1 C3L-01703 . . . . . . . . . 12.20 D T P P D D M T D 0.848 T T D 0.529 0.760 0.477 1.109 T T D D D D 3.997 27.000 0.999 D D 0.630 6.241 0.530 5.445 1.000 0.672 0.702 0.702 0.711 . 4.480 4.480 7.771 1.176 0.618 1.000 0.999 0.996 97 . . . ID=COSV58739494;OCCURENCE=1(skin) NT5DC2 162 0 266 34 0.113333333333333 TRUE TRUE ENSG00000163931.16 . BCM GRCh38.p13 chr3 53228344 53228344 + G G A Missense_Mutation SNP ENST00000462138.6 exon11 c.C1411T p.R471W exonic ENSG00000163931.16 . nonsynonymous SNV ENSG00000163931.16:ENST00000462138.6:exon11:c.C1411T:p.R471W 3p21.1 C3L-01703 8.249e-06 0 0 0.0001 0 0 0 0 rs201786364 19.20 D D D D D D H D D 0.940 D D D 0.814 . 0.987 1.190 T D D D D D 4.633 32 0.999 D D 0.917 11.490 0.801 10.161 1.000 0.672 0.702 0.702 0.711 . 5.520 4.570 3.335 1.176 0.676 1.000 1.000 0.995 462 Transketolase-like,_pyrimidine-binding_domain . . . TKT 376 0 447 70 0.135396518375242 TRUE NA ENSG00000016391.11 . BCM GRCh38.p13 chr3 53820543 53820543 + T T A Missense_Mutation SNP ENST00000315251.11 exon6 c.A1051T p.T351S exonic ENSG00000016391.11 . nonsynonymous SNV ENSG00000016391.11:ENST00000315251.11:exon6:c.A1051T:p.T351S 3p21.1 C3L-01703 . . . . . . . . . 8.20 T T B B D D L T D 0.759 T T T 0.198 0.387 0.469 0.529 T D T T D D 2.554 22.500 0.977 D D 0.068 2.763 0.233 3.350 1.000 0.732 0.709 0.744 0.564 . 5.350 5.350 7.457 1.138 0.665 1.000 0.971 0.955 562 . . . . CHDH 231 0 264 27 0.0927835051546392 TRUE TRUE ENSG00000161202.20 . BCM GRCh38.p13 chr3 184166236 184166236 + C C T Missense_Mutation SNP ENST00000313143.9 exon8 c.C874T p.R292C exonic ENSG00000161202.20 . nonsynonymous SNV ENSG00000161202.20:ENST00000313143.9:exon8:c.C874T:p.R292C 3q27.1 C3L-01703 . . . . . . . . . 17.20 D D D D D D H T D 0.890 T T D 0.462 0.788 0.816 2.008 D D D D D D 4.187 28.500 0.999 D D 0.872 10.340 0.804 10.238 1.000 0.707 0.725 0.725 0.714 . 5.800 5.800 2.466 1.026 0.599 0.985 1.000 0.996 862 PDZ_domain . . ID=COSV57457221;OCCURENCE=1(small_intestine) DVL3 200 0 276 40 0.126582278481013 TRUE TRUE ENSG00000164031.17 . BCM GRCh38.p13 chr4 99946565 99946565 + C C T Missense_Mutation SNP ENST00000442697.7 exon1 c.G7A p.G3R exonic ENSG00000164031.17 . nonsynonymous SNV ENSG00000164031.17:ENST00000442697.7:exon1:c.G7A:p.G3R 4q23 C3L-01703 . . . . . . . . . 9.20 T T P P D D M T D 0.589 T T D 0.254 0.239 0.640 1.594 D T D T D D 3.154 23.800 0.999 N N 0.536 5.328 0.454 4.768 1.000 0.267 0.093 0.520 0.373 . 4.110 4.110 2.303 1.019 0.530 1.000 0.997 0.888 768 . . . . DNAJB14 286 2 491 77 0.13556338028169 NA TRUE ENSG00000212122.4 . BCM GRCh38.p13 chr5 113434127 113434127 + G G A Missense_Mutation SNP ENST00000390666.4 exon1 c.C713T p.S238F exonic ENSG00000212122.4 . nonsynonymous SNV ENSG00000212122.4:ENST00000390666.4:exon1:c.C713T:p.S238F 5q22.2 C3L-01703 . . . . . . . . . 5.20 D D D P U N L T D 0.240 T T T 0.028 0.530 0.323 0.119 T T T T D T 2.145 20.400 0.994 N N -0.381 1.425 -0.637 0.991 0.003 0.516 0.547 0.573 0.586 . 0.900 0.900 2.317 0.447 0.373 0.266 0.840 0.700 922 Protein_kinase_domain . . . TSSK1B 238 0 419 53 0.11228813559322 TRUE TRUE ENSG00000164244.21 . BCM GRCh38.p13 chr5 127533652 127533652 + A A G Missense_Mutation SNP ENST00000296666.13 exon6 c.A787G p.T263A exonic ENSG00000164244.21 . nonsynonymous SNV ENSG00000164244.21:ENST00000296666.13:exon6:c.A787G:p.T263A 5q23.2 C3L-01703 . . . . . . . . . 5.19 T T B B D D L . N 0.896 T T T 0.119 0.332 0.452 0.134 T T T T T D 2.377 22.000 0.865 D D -0.333 1.534 -0.158 1.889 0.998 0.707 0.725 0.725 0.714 . 5.240 4.070 6.671 1.312 0.756 1.000 0.994 0.974 492 . . . . PRRC1 221 0 276 23 0.0769230769230769 TRUE TRUE ENSG00000204252.14 . BCM GRCh38.p13 chr6 33008031 33008031 + G G A Missense_Mutation SNP ENST00000229829.7 exon2 c.C313T p.R105C exonic ENSG00000204252.14 . nonsynonymous SNV ENSG00000204252.14:ENST00000229829.7:exon2:c.C313T:p.R105C 6p21.32 C3L-01703 0.0124 0.0025 0.0045 0.0014 0.0050 0.0136 0.0104 0.0283 rs11575906 3.18 T T D P N D L T D 0.156 T T . 0.105 . . 1.018 T T T T T . 2.877 23.200 0.992 N N -0.056 2.319 -0.187 1.817 0.997 0.745 0.686 0.732 0.542 . 4.110 0.979 0.292 1.176 0.674 0.166 0.969 0.703 895 MHC_class_II,_alpha_chain,_N-terminal . . ID=COSV57713941;OCCURENCE=1(large_intestine),2(kidney),2(lung) HLA-DOA 125 0 219 33 0.130952380952381 TRUE TRUE ENSG00000124721.18 . BCM GRCh38.p13 chr6 38894759 38894759 + C C A Missense_Mutation SNP ENST00000359357.7 exon57 c.C7991A p.S2664Y exonic ENSG00000124721.18 . nonsynonymous SNV ENSG00000124721.18:ENST00000359357.7:exon57:c.C7991A:p.S2664Y 6p21.2 C3L-01703 . . . . . . . . . 15.19 D . D D N D H T D 0.977 D T D 0.449 0.645 0.756 0.654 D T D D D D 3.813 25.900 0.996 D D 1.013 14.349 0.885 13.144 0.095 0.516 0.590 0.547 0.586 . 5.330 5.330 4.806 1.026 0.599 1.000 1.000 1.000 553 . . . . DNAH8 295 0 411 39 0.0866666666666667 TRUE TRUE ENSG00000164597.13 . BCM GRCh38.p13 chr7 107248475 107248475 + C C A Missense_Mutation SNP ENST00000347053.7 exon16 c.G1804T p.A602S exonic ENSG00000164597.13 . nonsynonymous SNV ENSG00000164597.13:ENST00000347053.7:exon16:c.G1804T:p.A602S 7q22.3 C3L-01703 . . . . . . . . . 6.20 T T B B D D L T N 0.452 T T T 0.087 0.483 0.545 0.056 T T T T D D 2.153 20.500 0.985 D D 0.004 2.526 0.215 3.258 1.000 0.706 0.659 0.710 0.613 . 5.830 5.830 5.133 1.025 0.599 1.000 0.998 0.996 396 . . . . COG5 339 1 505 51 0.091726618705036 TRUE TRUE ENSG00000257743.8 . BCM GRCh38.p13 chr7 142219897 142219897 + A A G Missense_Mutation SNP ENST00000477922.3 exon48 c.A5386G p.T1796A exonic ENSG00000257743.8 . nonsynonymous SNV ENSG00000257743.8:ENST00000477922.3:exon48:c.A5386G:p.T1796A 7q34 C3L-01703 . . . . . . . . . 0.10 . T . . . . . . . 0.028 T T T 0.087 . 0.030 . . T T T T . 0.534 6.859 0.896 N N -0.494 1.188 -0.629 1.003 0.000 0.487 0.574 0.547 0.564 . 3.830 1.400 1.928 1.185 0.665 0.846 0.047 0.020 934 . . . . MGAM2 152 0 199 20 0.091324200913242 TRUE TRUE ENSG00000275342.5 . BCM GRCh38.p13 chr8 8376818 8376818 + G G A Missense_Mutation SNP ENST00000615670.5 exon3 c.C1591T p.H531Y exonic ENSG00000275342.5 . nonsynonymous SNV ENSG00000275342.5:ENST00000615670.5:exon3:c.C1591T:p.H531Y 8p23.1 C3L-01703 . . . . . . . . . 1.14 . T . . N N . . . 0.234 T T T 0.094 . 0.072 . T T T T D T 1.824 17.910 0.585 N N -0.321 1.564 -0.404 1.365 1.000 0.722 0.699 0.702 0.711 . 4.890 4.000 0.655 1.176 0.676 0.000 0.004 0.010 926 . . . . PRAG1 131 0 212 40 0.158730158730159 TRUE TRUE ENSG00000275342.5 . BCM GRCh38.p13 chr8 8376835 8376835 + G G A Missense_Mutation SNP ENST00000615670.5 exon3 c.C1574T p.S525F exonic ENSG00000275342.5 . nonsynonymous SNV ENSG00000275342.5:ENST00000615670.5:exon3:c.C1574T:p.S525F 8p23.1 C3L-01703 . . . . . . . . . 3.14 . D . . N N . . . 0.401 T T T 0.108 . 0.274 . T T T T D T 2.804 23.000 0.997 D N -0.137 2.060 -0.071 2.131 1.000 0.722 0.699 0.702 0.711 . 4.890 3.990 2.456 0.189 0.676 0.999 0.031 0.063 926 . . . . PRAG1 146 0 240 40 0.142857142857143 TRUE NA ENSG00000275342.5 . BCM GRCh38.p13 chr8 8376936 8376936 + G G C Missense_Mutation SNP ENST00000615670.5 exon3 c.C1473G p.S491R exonic ENSG00000275342.5 . nonsynonymous SNV ENSG00000275342.5:ENST00000615670.5:exon3:c.C1473G:p.S491R 8p23.1 C3L-01703 . . . . . . . . . 6.14 . T . . N D . . . 0.576 T T T 0.198 . 0.192 . T T D D D T 3.850 26.100 0.998 D D 0.536 5.331 0.498 5.141 1.000 0.672 0.698 0.702 0.636 . 4.780 3.910 5.505 1.176 0.676 1.000 1.000 1.000 926 . . . . PRAG1 207 0 339 65 0.160891089108911 TRUE TRUE ENSG00000186583.12 . BCM GRCh38.p13 chr8 144040819 144040819 + G G A Missense_Mutation SNP ENST00000377470.8 exon3 c.G1018A p.A340T exonic ENSG00000186583.12 . nonsynonymous SNV ENSG00000186583.12:ENST00000377470.8:exon3:c.G1018A:p.A340T 8q24.3 C3L-01703 7.282e-05 0 0.0003 0 0 4.176e-05 0 0.0002 rs782325616 0.20 T T B B N N N T N 0.024 T T T 0.015 0.147 0.014 0.082 T T T T T T -0.418 0.176 0.126 N N -1.607 0.053 -1.594 0.077 0.831 0.517 0.547 0.479 0.563 . 4.040 -1.810 -0.192 -0.374 -0.120 0.000 0.000 0.022 970 . . . . SPATC1 103 0 138 23 0.142857142857143 TRUE NA ENSG00000147799.11 . BCM GRCh38.p13 chr8 144555632 144555632 + G G T Missense_Mutation SNP ENST00000276826.5 exon3 c.C524A p.P175Q exonic ENSG00000147799.11 . nonsynonymous SNV ENSG00000147799.11:ENST00000276826.5:exon3:c.C524A:p.P175Q 8q24.3 C3L-01703 . . . . . . . . . 4.20 D T P B N D L T N 0.227 T T T 0.016 0.157 0.268 0.460 T T T T D T 2.231 21.100 0.983 D N -0.009 2.478 0.131 2.865 1.000 0.633 0.547 0.659 0.755 . 4.740 4.740 4.951 1.083 0.676 0.687 0.970 0.973 883 . . . . ARHGAP39 373 0 538 38 0.0659722222222222 TRUE TRUE ENSG00000147799.11 . BCM GRCh38.p13 chr8 144555635 144555635 + G G T Missense_Mutation SNP ENST00000276826.5 exon3 c.C521A p.P174Q exonic ENSG00000147799.11 . nonsynonymous SNV ENSG00000147799.11:ENST00000276826.5:exon3:c.C521A:p.P174Q 8q24.3 C3L-01703 . . . . . . . . . 4.20 D T P B N D L T N 0.511 T T T 0.080 0.247 0.289 0.637 T T T T D T 2.267 21.400 0.975 D N 0.150 3.088 0.238 3.377 1.000 0.633 0.547 0.659 0.755 . 4.740 4.740 3.418 1.083 0.676 0.990 0.998 0.993 883 . . . . ARHGAP39 360 0 516 34 0.0618181818181818 TRUE TRUE ENSG00000107863.18 . BCM GRCh38.p13 chr10 24594955 24594955 + T T A Missense_Mutation SNP ENST00000396432.7 exon21 c.A3871T p.N1291Y exonic ENSG00000107863.18 . nonsynonymous SNV ENSG00000107863.18:ENST00000396432.7:exon21:c.A3871T:p.N1291Y 10p12.1 C3L-01703 . . . . . . . . . 13.16 D D . . D D . T D 0.961 T T D 0.794 . 0.639 2.770 D . D D D D 4.268 29.300 0.994 D D 1.038 15.146 0.935 15.334 1.000 0.563 0.602 0.602 0.636 . 5.520 5.520 8.011 1.138 0.665 1.000 1.000 0.998 962 Rho_GTPase-activating_protein_domain . . . ARHGAP21 154 0 158 23 0.12707182320442 TRUE TRUE ENSG00000187714.7 . BCM GRCh38.p13 chr10 49611279 49611279 + C C T Missense_Mutation SNP ENST00000374115.5 exon1 c.C539T p.A180V exonic ENSG00000187714.7 . nonsynonymous SNV ENSG00000187714.7:ENST00000374115.5:exon1:c.C539T:p.A180V 10q11.23 C3L-01703 . . . . . . . . . 4.20 T T B B U D N T N 0.169 T T T 0.045 0.430 0.409 . T T T T D D 2.036 19.530 0.935 D N -0.449 1.279 -0.263 1.641 1.000 0.598 0.563 0.504 0.639 . 4.800 4.800 3.537 1.026 0.599 0.998 0.839 0.806 607 Major_facilitator_superfamily_domain . . ID=COSV60320455;OCCURENCE=1(breast),1(stomach) SLC18A3 313 0 631 84 0.117482517482517 TRUE TRUE ENSG00000176742.2 . BCM GRCh38.p13 chr11 5199918 5199918 + G G T Nonsense_Mutation SNP ENST00000321255.1 exon1 c.C783A p.Y261X exonic ENSG00000176742.2 . stopgain ENSG00000176742.2:ENST00000321255.1:exon1:c.C783A:p.Y261X 11p15.4 C3L-01703 . . . . . . . . . 4.6 . . . . D D . . . 0.033 . . . . . . . . . D D . . 6.160 35 0.993 N N 0.114 2.943 -0.173 1.852 0.016 0.487 0.574 0.547 0.613 . 5.150 1.020 -0.519 -0.410 0.676 0.000 0.036 0.020 861 GPCR,_rhodopsin-like,_7TM . . . OR51V1 186 1 257 42 0.140468227424749 TRUE TRUE ENSG00000134824.14 . BCM GRCh38.p13 chr11 61840406 61840406 + G G A Missense_Mutation SNP ENST00000278840.9 exon3 c.G391A p.V131M exonic ENSG00000134824.14 . nonsynonymous SNV ENSG00000134824.14:ENST00000278840.9:exon3:c.G391A:p.V131M 11q12.2 C3L-01703 1.647e-05 0 0 0 0 2.997e-05 0 0 rs767852784 0.20 T T B B N N N T N 0.101 T T T 0.022 0.517 0.447 1.094 T T T T T T 0.459 6.067 0.904 N N -1.244 0.198 -1.225 0.263 0.996 0.672 0.702 0.702 0.711 . 4.650 -2.890 -0.379 -1.053 -1.848 0.000 0.981 0.850 789 . . . ID=COSV53898514;OCCURENCE=2(breast) FADS2 587 0 847 90 0.096051227321238 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3L-01703 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 391 1 594 76 0.113432835820896 TRUE TRUE ENSG00000111344.11 . BCM GRCh38.p13 chr12 113104255 113104255 + C C T Missense_Mutation SNP ENST00000261729.9 exon18 c.G1871A p.R624H exonic ENSG00000111344.11 . nonsynonymous SNV ENSG00000111344.11:ENST00000261729.9:exon18:c.G1871A:p.R624H 12q24.13 C3L-01703 . . . . . . . . . 15.19 D D B B N D M D D 0.190 D D D 0.486 0.582 0.942 2.108 . D D D D T 3.334 24.200 0.999 D D 0.080 2.810 0.137 2.890 1.000 0.447 0.492 0.522 0.530 . 4.700 3.790 3.436 0.096 0.469 1.000 0.996 0.958 661 Pleckstrin_homology_domain . . . RASAL1 147 1 313 39 0.110795454545455 TRUE TRUE ENSG00000197991.11 . BCM GRCh38.p13 chr13 61413024 61413024 + A A G Missense_Mutation SNP ENST00000409204.4 exon2 c.T1075C p.Y359H exonic ENSG00000197991.11;ENSG00000280165.1 . nonsynonymous SNV ENSG00000280165.1:ENST00000409204.4:exon2:c.T1075C:p.Y359H,ENSG00000197991.11:ENST00000409186.1:exon5:c.T1075C:p.Y359H 13q21.2 C3L-01703 . . . . . . . . . 11.18 D D . . D D L T D 0.834 T T D 0.401 0.689 0.341 0.908 T T D T D D 3.962 26.700 0.998 D D 0.711 7.279 0.716 8.072 1.000 0.625 0.590 0.687 0.530 . 5.680 5.680 7.472 1.312 0.756 1.000 0.997 0.976 961 Cadherin-like . . . AL592490.1 189 0 245 23 0.0858208955223881 TRUE TRUE ENSG00000100557.9 . BCM GRCh38.p13 chr14 57493636 57493636 + G G C Missense_Mutation SNP ENST00000216445.7 exon1 c.C80G p.S27W exonic ENSG00000100557.9 . nonsynonymous SNV ENSG00000100557.9:ENST00000216445.7:exon1:c.C80G:p.S27W 14q22.3 C3L-01703 . . . . . . . . rs201357909 6.18 D D D D N N . T D 0.370 T T T 0.082 . 0.631 0.066 . T T T D T 1.901 18.500 0.985 N N -0.259 1.717 -0.437 1.306 1.000 0.497 0.476 0.476 0.542 . 5.110 2.220 0.204 0.203 -0.244 0.033 0.096 0.161 901 . . . . CCDC198 488 0 718 76 0.0957178841309824 TRUE TRUE ENSG00000100578.17 . BCM GRCh38.p13 chr14 58488673 58488673 + C C T Nonsense_Mutation SNP ENST00000619416.4 exon25 c.C3535T p.Q1179X exonic ENSG00000100578.17 . stopgain ENSG00000100578.17:ENST00000619416.4:exon25:c.C3535T:p.Q1179X 14q23.1 C3L-01703 8.285e-06 0.0001 0 0 0 0 0 0 rs373763986 3.6 . . . . N A . . . 0.293 . . . . . . . . . D D . . 7.660 39 0.997 N N 0.659 6.577 0.502 5.175 1.000 0.840 0.696 0.693 0.831 . 5.380 5.380 1.974 1.026 0.549 0.590 0.983 0.980 800 . . . . KIAA0586 390 0 512 62 0.10801393728223 TRUE NA ENSG00000138587.6 . BCM GRCh38.p13 chr15 56429168 56429168 + A A T Missense_Mutation SNP ENST00000260453.4 exon10 c.T1421A p.I474N exonic ENSG00000138587.6 . nonsynonymous SNV ENSG00000138587.6:ENST00000260453.4:exon10:c.T1421A:p.I474N 15q21.3 C3L-01703 . . . . . . . . . 9.20 D D P P N D M T D 0.533 T T T 0.239 0.574 0.498 0.176 T T T T D D 3.910 26.400 0.993 D D 0.517 5.167 0.597 6.181 1.000 0.713 0.636 0.673 0.297 . 6.080 6.080 6.497 1.290 0.665 0.998 1.000 0.998 413 . . . . MNS1 194 0 234 20 0.078740157480315 TRUE TRUE ENSG00000196557.13 . BCM GRCh38.p13 chr16 1209032 1209032 + G G A Missense_Mutation SNP ENST00000348261.11 exon17 c.G3364A p.A1122T exonic ENSG00000196557.13 . nonsynonymous SNV ENSG00000196557.13:ENST00000348261.11:exon17:c.G3364A:p.A1122T 16p13.3 C3L-01703 0 0 0 0 0 0 0 0 rs748029194 7.20 T T P B N D L D N 0.146 T D D 0.254 0.213 0.838 . T T T T T D 1.844 18.060 0.969 D D -0.300 1.613 -0.325 1.514 0.001 0.718 0.547 0.571 0.563 . 3.670 1.510 0.697 0.090 0.614 1.000 0.102 0.066 934 . . . . CACNA1H 39 0 117 10 0.078740157480315 TRUE NA ENSG00000167207.13 . BCM GRCh38.p13 chr16 50707880 50707880 + C C T Missense_Mutation SNP ENST00000300589.6 exon3 c.C566T p.T189M exonic ENSG00000167207.13 . nonsynonymous SNV ENSG00000167207.13:ENST00000300589.6:exon3:c.C566T:p.T189M 16q12.1 C3L-01703 0.0026 0.0020 0.0002 0.0001 0.0009 0.0043 0 0 rs61755182 7.20 D D D D N N M T N 0.248 T T T 0.039 . 0.837 0.469 T T T T T D 3.430 24.500 0.999 D N 0.435 4.569 0.417 4.481 1.000 0.563 0.654 0.618 0.613 . 4.710 3.620 2.691 1.015 0.599 0.965 0.985 0.986 697 CARD_domain . . ID=COSV99039070;OCCURENCE=2(lung) NOD2 539 0 873 105 0.107361963190184 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674221 7674221 + G G A Missense_Mutation SNP ENST00000269305.8 exon7 c.C742T p.R248W exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.C742T:p.R248W 17p13.1 C3L-01703 8.24e-06 0 0 0 0 1.498e-05 0 0 rs121912651 19.20 D D D D D A M D D 0.991 D D D 0.927 0.986 0.984 0.393 T D D D D D 4.158 28.300 0.999 D D 0.506 5.084 0.371 4.161 0.000 0.722 0.702 0.725 0.735 . 4.620 2.560 0.835 1.157 0.672 1.000 0.987 0.874 433 p53,_DNA-binding_domain . . ID=COSV52662035;OCCURENCE=1(salivary_gland),114(breast),1(penis),5(liver),2(genital_tract),65(oesophagus),1(cervix),238(large_intestine),62(central_nervous_system),12(biliary_tract),49(ovary),4(vulva),2(pleura),2(bone),9(NS),63(haematopoietic_and_lymphoid_tissue),52(stomach),14(kidney),11(soft_tissue),27(urinary_tract),40(pancreas),52(skin),14(prostate),47(lung),8(thyroid),51(upper_aerodigestive_tract),1(thymus),30(endometrium) TP53 382 0 511 52 0.0923623445825933 TRUE TRUE ENSG00000275489.1 . BCM GRCh38.p13 chr17 38841310 38841310 + C C T Missense_Mutation SNP ENST00000614158.1 exon1 c.G80A p.R27H exonic ENSG00000275489.1 . nonsynonymous SNV ENSG00000275489.1:ENST00000614158.1:exon1:c.G80A:p.R27H 17q12 C3L-01703 . . . . . . . . . 0.15 . T B B N N L . . 0.174 T T T 0.014 0.353 0.014 . . T T T T . 1.365 14.840 0.986 N N -1.013 0.390 -0.974 0.522 1.000 0.370 0.547 0.547 0.651 . 5.380 0.988 0.780 -0.277 -0.262 0.316 0.006 0.013 410 . . . . C17orf98 209 0 396 39 0.0896551724137931 TRUE TRUE ENSG00000008838.20 . BCM GRCh38.p13 chr17 40026981 40026981 + C C A Missense_Mutation SNP ENST00000394128.7 exon17 c.G1584T p.W528C exonic ENSG00000008838.20 . nonsynonymous SNV ENSG00000008838.20:ENST00000394128.7:exon17:c.G1584T:p.W528C 17q21.1 C3L-01703 . . . . . . . . . 16.20 D D D D D D M T D 0.985 T T D 0.751 0.766 0.774 1.409 T D D D D D 4.484 32 0.922 D D 0.486 4.928 0.413 4.455 1.000 0.731 0.636 0.780 0.649 . 4.500 3.540 7.684 1.026 0.599 1.000 1.000 0.998 173 Mediator_complex,_subunit_Med24,_N-terminal . . . MED24 339 0 570 35 0.0578512396694215 TRUE TRUE ENSG00000168517.10 . BCM GRCh38.p13 chr17 45169571 45169571 + G G A Missense_Mutation SNP ENST00000307275.7 exon4 c.G623A p.R208H exonic ENSG00000168517.10 . nonsynonymous SNV ENSG00000168517.10:ENST00000307275.7:exon4:c.G623A:p.R208H 17q21.31 C3L-01703 . . . . . . . . rs543496832 5.19 T T D P D N L . N 0.366 T T T 0.087 0.278 0.770 1.551 T T T T D D 3.376 24.300 0.999 D N 0.290 3.727 0.249 3.435 1.000 0.758 0.634 0.692 0.568 . 4.640 2.630 2.070 1.157 0.654 1.000 1.000 0.982 648 . . . . HEXIM2 100 1 175 12 0.0641711229946524 TRUE NA ENSG00000179855.9 . BCM GRCh38.p13 chr19 3585641 3585641 + C C T Missense_Mutation SNP ENST00000644452.3 exon1 c.C44T p.P15L exonic ENSG00000179855.9 . nonsynonymous SNV ENSG00000179855.9:ENST00000644452.3:exon1:c.C44T:p.P15L 19p13.3 C3L-01703 . . . . . . . . . 3.20 T D B B U N N T N 0.108 T T D 0.164 0.186 0.735 0.101 D T T T T T 1.452 15.430 0.956 N N -0.888 0.535 -0.855 0.682 1.000 0.455 0.578 0.607 0.555 . 2.970 0.656 0.865 0.756 0.423 0.934 0.123 0.174 976 . . . . GIPC3 10 0 38 14 0.269230769230769 TRUE NA ENSG00000181894.15 . BCM GRCh38.p13 chr19 58128489 58128489 + C C T Missense_Mutation SNP ENST00000598312.6 exon4 c.G1015A p.G339S exonic ENSG00000181894.15 . nonsynonymous SNV ENSG00000181894.15:ENST00000598312.6:exon4:c.G1015A:p.G339S 19q13.43 C3L-01703 2.479e-05 0 8.637e-05 0 0 0 0 0.0001 rs749321833 8.20 D D D D N D L T D 0.383 T T D 0.252 0.678 0.590 0.462 T T T T D T 2.762 22.900 0.999 N N 0.577 5.694 0.529 5.430 1.000 0.707 0.709 0.725 0.636 . 4.310 4.310 2.599 1.015 0.513 0.846 0.931 0.952 964 Zinc_finger_C2H2-type . . . ZNF329 127 1 180 21 0.104477611940299 TRUE NA ENSG00000185340.15 . BCM GRCh38.p13 chr22 29312388 29312388 + G G A Missense_Mutation SNP ENST00000618518.3 exon5 c.G1937A p.R646H exonic ENSG00000185340.15 . nonsynonymous SNV ENSG00000185340.15:ENST00000618518.3:exon5:c.G1937A:p.R646H 22q12.2 C3L-01703 1.774e-05 0 0 0.0001 0 0 0 7.781e-05 rs149600937 8.19 D D B B U D . T N 0.452 T T D 0.082 . 0.765 . D T T T D D 3.051 23.500 0.996 D N -0.287 1.646 -0.204 1.776 1.000 0.707 0.578 0.723 0.714 . 4.080 1.990 2.048 1.176 0.618 0.034 1.000 0.917 480 . . . . GAS2L1 54 0 93 23 0.198275862068966 TRUE NA ENSG00000100320.23 . BCM GRCh38.p13 chr22 35746486 35746486 + C C A Missense_Mutation SNP ENST00000438146.7 exon12 c.G1225T p.A409S exonic ENSG00000100320.23 . nonsynonymous SNV ENSG00000100320.23:ENST00000438146.7:exon12:c.G1225T:p.A409S 22q12.3 C3L-01703 . . . . . . . . . 12.19 D D D D D D . T N 0.663 D T D 0.219 0.473 0.386 2.098 T T T T D D 3.806 25.900 0.997 D D 0.602 5.948 0.624 6.533 1.000 0.707 0.563 0.725 0.711 . 5.150 5.150 4.998 1.026 0.599 1.000 1.000 0.995 878 Fox-1_C-terminal_domain . . . RBFOX2 82 0 128 16 0.111111111111111 TRUE TRUE ENSG00000187754.9 . BCM GRCh38.p13 chrX 52653460 52653460 + C C T Missense_Mutation SNP ENST00000298181.6 exon2 c.G13A p.D5N exonic ENSG00000187754.9 . nonsynonymous SNV ENSG00000187754.9:ENST00000298181.6:exon2:c.G13A:p.D5N Xp11.22 C3L-01703 . . . . . . . . . 0.18 T T B B N N L T N 0.092 T T T 0.012 0.226 0.124 0.012 . T T T T T -0.017 1.233 0.570 N . . . . . 0.000 . . . . . 0.560 -1.120 -0.211 -0.905 0.282 0.000 0.000 0.000 484 . . . . SSX7 278 0 455 108 0.191829484902309 NA TRUE ENSG00000147256.12 . BCM GRCh38.p13 chrX 131083964 131083964 + C C T Missense_Mutation SNP ENST00000276211.10 exon4 c.C550T p.R184C exonic ENSG00000147256.12 . nonsynonymous SNV ENSG00000147256.12:ENST00000276211.10:exon4:c.C550T:p.R184C Xq26.1 C3L-01703 . . . . . . . . . 12.19 D D D D D D M T D 0.483 T T D 0.242 0.512 0.407 1.840 T T T T D D 4.145 28.200 0.999 D . . . . . 0.992 . . . . . 4.240 4.240 2.966 0.947 0.599 0.990 0.962 0.972 512 . . . . ARHGAP36 119 0 176 47 0.210762331838565 TRUE TRUE ENSG00000143473.13 . BCM GRCh38.p13 chr1 210683997 210683997 + G G A Silent SNP ENST00000271751.10 exon11 c.C2254T p.L752L exonic ENSG00000143473.13 . synonymous SNV ENSG00000143473.13:ENST00000271751.10:exon11:c.C2254T:p.L752L 1q32.2 C3L-01703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNH1 47 0 114 17 0.129770992366412 TRUE TRUE ENSG00000218819.6 . BCM GRCh38.p13 chr2 21141040 21141040 + C C T Silent SNP ENST00000405799.3 exon4 c.C3573T p.S1191S exonic ENSG00000218819.6 . synonymous SNV ENSG00000218819.6:ENST00000405799.3:exon4:c.C3573T:p.S1191S 2p24.1 C3L-01703 . . . . . . . . rs563732296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDRD15 231 0 247 21 0.0783582089552239 TRUE NA ENSG00000155890.4 . BCM GRCh38.p13 chr3 140682978 140682978 + C C T Silent SNP ENST00000286349.4 exon2 c.C858T p.D286D exonic ENSG00000155890.4 . synonymous SNV ENSG00000155890.4:ENST00000286349.4:exon2:c.C858T:p.D286D 3q23 C3L-01703 8.238e-06 0 0 0 0 1.499e-05 0 0 rs749484750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM42 507 0 810 86 0.0959821428571429 TRUE NA ENSG00000038382.20 . BCM GRCh38.p13 chr5 14471389 14471389 + G G A Silent SNP ENST00000344204.9 exon38 c.G5835A p.S1945S exonic ENSG00000038382.20 . synonymous SNV ENSG00000038382.20:ENST00000344204.9:exon38:c.G5835A:p.S1945S 5p15.2 C3L-01703 4.969e-05 0.0005 8.697e-05 0 0 0 0 0 rs368260455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIO 331 0 453 54 0.106508875739645 TRUE NA ENSG00000146063.20 . BCM GRCh38.p13 chr5 181224554 181224554 + G G A Silent SNP ENST00000315073.10 exon1 c.G555A p.Q185Q exonic ENSG00000146063.20 . synonymous SNV ENSG00000146063.20:ENST00000315073.10:exon1:c.G555A:p.Q185Q 5q35.3 C3L-01703 . . . . . . . . rs900162156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM41 182 0 313 40 0.113314447592068 TRUE NA ENSG00000275342.5 . BCM GRCh38.p13 chr8 8376981 8376981 + G G A Silent SNP ENST00000615670.5 exon3 c.C1428T p.V476V exonic ENSG00000275342.5 . synonymous SNV ENSG00000275342.5:ENST00000615670.5:exon3:c.C1428T:p.V476V 8p23.1 C3L-01703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58165677;OCCURENCE=1(skin) PRAG1 153 0 278 47 0.144615384615385 TRUE TRUE ENSG00000159921.17 . BCM GRCh38.p13 chr9 36246287 36246287 + G G A Silent SNP ENST00000642385.2 exon3 c.C360T p.A120A exonic ENSG00000159921.17 . synonymous SNV ENSG00000159921.17:ENST00000642385.2:exon3:c.C360T:p.A120A 9p13.3 C3L-01703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GNE 372 1 516 70 0.119453924914676 TRUE TRUE ENSG00000103546.18 . BCM GRCh38.p13 chr16 55672155 55672155 + G G A Silent SNP ENST00000379906.6 exon3 c.G624A p.T208T exonic ENSG00000103546.18 . synonymous SNV ENSG00000103546.18:ENST00000379906.6:exon3:c.G624A:p.T208T 16q12.2 C3L-01703 8.24e-05 0 0.0003 0 0 0.0001 0 0 rs773801761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC6A2 290 0 519 55 0.0958188153310105 TRUE NA ENSG00000215368.5 . BCM GRCh38.p13 chr18 5133163 5133163 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000215368.5 . . . 18p11.31 C3L-01703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BOD1P2 40 0 79 7 0.0813953488372093 TRUE NA ENSG00000184478.7 . BCM GRCh38.p13 chr11 5947348 5947349 + TG TG AT Unknown MNP ENST00000641905.1 exon4 c.2_3delinsAT p.M1? exonic ENSG00000184478.7 . startloss ENSG00000184478.7:ENST00000641905.1:exon4:c.2_3delinsAT:p.M1? 11p15.4 C3L-01703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR56A3 99 18 131 18 0.120805369127517 TRUE NA ENSG00000270601.4 . BCM GRCh38.p13 chr1 13260284 13260284 + C C A Missense_Mutation SNP ENST00000622421.2 exon3 c.C350A p.S117Y exonic ENSG00000270601.4 . nonsynonymous SNV ENSG00000270601.4:ENST00000622421.2:exon3:c.C350A:p.S117Y 1p36.21 C3L-02118 . . . . . . . . . 3.14 . D . . N N M . . 0.376 T T T 0.061 . 0.014 . T T T T D . 2.204 20.900 0.988 N N -0.248 1.746 -0.461 1.265 0.000 0.487 0.574 0.574 0.564 . 1.130 1.130 0.665 -0.076 0.406 0.600 0.009 0.023 . . . . . PRAMEF5 157 0 169 53 0.238738738738739 NA TRUE ENSG00000204478.9 . BCM GRCh38.p13 chr1 13421110 13421110 + G G A Missense_Mutation SNP ENST00000316412.9 exon4 c.G1280A p.R427Q exonic ENSG00000204478.9 . nonsynonymous SNV ENSG00000204478.9:ENST00000316412.9:exon4:c.G1280A:p.R427Q 1p36.21 C3L-02118 . . . . . . . . . 0.17 T T . . N N . T N 0.050 T T T 0.022 0.467 0.030 . T T T T T T -0.256 0.387 0.556 N N -0.961 0.448 -1.157 0.321 0.000 0.487 0.574 0.574 0.564 . 1.680 -0.515 -2.306 -0.122 -0.194 0.000 0.001 0.000 982 . . . . PRAMEF20 598 0 678 40 0.0557103064066852 TRUE NA ENSG00000143374.17 . BCM GRCh38.p13 chr1 150504670 150504670 + G G T Missense_Mutation SNP ENST00000369064.8 exon15 c.G1757T p.R586L exonic ENSG00000143374.17 . nonsynonymous SNV ENSG00000143374.17:ENST00000369064.8:exon15:c.G1757T:p.R586L 1q21.2 C3L-02118 . . . . . . . . . 18.19 D D D D D D H . D 0.968 D D D 0.779 0.816 0.794 1.422 T D D D D D 4.555 32 0.999 D D 1.044 15.374 0.961 16.624 1.000 0.707 0.725 0.725 0.636 . 5.190 5.190 9.763 1.141 0.672 1.000 0.990 0.962 163 Threonine-tRNA_ligase_catalytic_core_domain;Aminoacyl-tRNA_synthetase,_class_II;Aminoacyl-tRNA_synthetase,_class_II_(G/_P/_S/T) . . . TARS2 199 0 303 27 0.0818181818181818 TRUE TRUE ENSG00000117501.14 . BCM GRCh38.p13 chr1 170961933 170961933 + C C T Missense_Mutation SNP ENST00000367758.7 exon6 c.C332T p.T111M exonic ENSG00000117501.14 . nonsynonymous SNV ENSG00000117501.14:ENST00000367758.7:exon6:c.C332T:p.T111M 1q24.3 C3L-02118 2.115e-05 0 0 0 0 2.005e-05 0 7.206e-05 rs766660390 0.20 T T B B N N N T N 0.182 T T T 0.038 0.382 0.110 0.057 T T T T T T 1.284 14.270 0.432 N N -1.144 0.269 -1.027 0.456 0.001 0.500 0.547 0.574 0.504 . 5.600 1.780 1.293 -0.214 -1.200 0.968 0.002 0.000 803 . . . ID=COSV63012034;OCCURENCE=1(skin),1(lung) MROH9 118 0 99 17 0.146551724137931 TRUE TRUE ENSG00000116199.12 . BCM GRCh38.p13 chr1 179066829 179066829 + G G A Missense_Mutation SNP ENST00000263733.5 exon7 c.G968A p.S323N exonic ENSG00000116199.12 . nonsynonymous SNV ENSG00000116199.12:ENST00000263733.5:exon7:c.G968A:p.S323N 1q25.2 C3L-02118 . . . . . . . . . 15.20 D T D P D D M T N 0.872 D D D 0.563 0.860 0.831 0.507 D D D T D D 4.313 29.700 0.996 D D 0.840 9.604 0.823 10.830 1.000 0.707 0.709 0.725 0.714 . 5.260 5.260 9.754 1.176 0.676 1.000 1.000 0.999 497 FAM20,_C-terminal . . . FAM20B 205 0 283 18 0.0598006644518272 TRUE TRUE ENSG00000065413.20 . BCM GRCh38.p13 chr2 196993664 196993664 + C C T Missense_Mutation SNP ENST00000282272.15 exon27 c.G2842A p.V948I exonic ENSG00000065413.20 . nonsynonymous SNV ENSG00000065413.20:ENST00000282272.15:exon27:c.G2842A:p.V948I 2q33.1 C3L-02118 5.746e-05 0 0 0 0 0 0 0.0001 rs572226231 0.16 T T . . N . N T N 0.133 T T . 0.070 . 0.297 . T T T T T T 0.439 5.850 0.708 N N -1.097 0.309 -1.045 0.435 0.003 0.707 0.725 0.547 0.621 . 5.020 -0.867 0.033 0.138 0.599 0.006 0.730 0.900 421 Ankyrin_repeat-containing_domain . . . ANKRD44 247 0 280 19 0.0635451505016722 TRUE NA ENSG00000144488.15 . BCM GRCh38.p13 chr2 238100478 238100478 + G G A Missense_Mutation SNP ENST00000343063.8 exon1 c.G59A p.R20Q exonic ENSG00000144488.15 . nonsynonymous SNV ENSG00000144488.15:ENST00000343063.8:exon1:c.G59A:p.R20Q 2q37.3 C3L-02118 1.555e-05 0 0 0.0002 0 0 0 0 rs751081371 1.20 T T B B N N N T N 0.203 T T D 0.055 0.478 0.048 0.141 T T T T T T -0.845 0.020 0.916 N N -1.543 0.069 -1.582 0.080 1.000 0.403 0.547 0.514 0.563 . 4.370 -6.330 -1.841 -0.716 -0.897 0.000 0.021 0.219 970 Ankyrin_repeat-containing_domain . . ID=COSV99615679;OCCURENCE=1(lung) ESPNL 168 0 288 34 0.105590062111801 TRUE NA ENSG00000163808.17 . BCM GRCh38.p13 chr3 44797674 44797674 + C C T Missense_Mutation SNP ENST00000326047.9 exon9 c.C973T p.R325W exonic ENSG00000163808.17 . nonsynonymous SNV ENSG00000163808.17:ENST00000326047.9:exon9:c.C973T:p.R325W 3p21.31 C3L-02118 4.949e-05 0 0 0.0001 0 1.5e-05 0 0.0002 rs375650379 18.19 D D D D D D M T D 0.948 D D D 0.777 0.777 0.688 0.812 D D D D D . 4.475 32 0.999 D D 0.355 4.078 0.253 3.452 0.452 0.707 0.654 0.725 0.636 . 5.320 3.470 2.335 0.099 -0.180 0.968 0.988 0.996 323 Kinesin_motor_domain . . . KIF15 99 0 107 15 0.122950819672131 TRUE NA ENSG00000081148.12 . BCM GRCh38.p13 chr3 101244601 101244601 + T T A Missense_Mutation SNP ENST00000193391.8 exon13 c.A1730T p.K577I exonic ENSG00000081148.12 . nonsynonymous SNV ENSG00000081148.12:ENST00000193391.8:exon13:c.A1730T:p.K577I 3q12.3 C3L-02118 . . . . . . . . . 3.20 D T B B N N M T D 0.359 T T T 0.015 0.307 0.164 0.259 T T T T T T 1.947 18.850 0.959 N N -0.934 0.478 -0.896 0.625 0.946 0.554 0.588 0.547 0.568 . 5.350 1.380 0.735 -0.251 -0.171 0.887 0.488 0.464 279 . . . . IMPG2 62 0 69 9 0.115384615384615 TRUE TRUE ENSG00000121577.13 . BCM GRCh38.p13 chr3 119660041 119660041 + T T C Missense_Mutation SNP ENST00000264231.7 exon1 c.A383G p.E128G exonic ENSG00000121577.13 . nonsynonymous SNV ENSG00000121577.13:ENST00000264231.7:exon1:c.A383G:p.E128G 3q13.33 C3L-02118 . . . . . . . . . 10.20 D D P P D D M T D 0.262 T T T 0.151 0.547 0.500 0.074 T T T T D D 4.206 28.700 0.997 D D 0.245 3.509 0.248 3.428 1.000 0.660 0.694 0.547 0.568 . 5.790 3.310 5.137 1.138 0.665 1.000 1.000 0.997 564 . . . . POPDC2 145 0 170 24 0.123711340206186 TRUE TRUE ENSG00000182308.7 . BCM GRCh38.p13 chr4 41982124 41982124 + C C T Missense_Mutation SNP ENST00000333141.7 exon1 c.C332T p.S111L exonic ENSG00000182308.7 . nonsynonymous SNV ENSG00000182308.7:ENST00000333141.7:exon1:c.C332T:p.S111L 4p13 C3L-02118 . . . . . . . . . 5.20 D D B B N N L T D 0.275 T T T 0.074 0.416 0.043 0.846 T T T T D T 1.267 14.150 0.975 D N -0.591 1.004 -0.646 0.979 0.844 0.487 0.574 0.547 0.542 . 0.688 0.688 4.234 0.390 0.328 1.000 0.867 0.642 599 . . . . DCAF4L1 178 0 188 14 0.0693069306930693 TRUE NA ENSG00000138771.16 . BCM GRCh38.p13 chr4 76779002 76779002 + A A G Missense_Mutation SNP ENST00000296043.7 exon11 c.A5816G p.D1939G exonic ENSG00000138771.16 . nonsynonymous SNV ENSG00000138771.16:ENST00000296043.7:exon11:c.A5816G:p.D1939G 4q21.1 C3L-02118 . . . . . . . . . 14.20 D D D D N D M T D 0.611 T T D 0.479 0.682 0.463 1.201 T T D D D D 4.251 29.100 0.999 D D 0.850 9.836 0.825 10.907 1.000 0.732 0.608 0.744 0.655 . 5.550 5.550 8.881 1.312 0.691 1.000 0.991 0.890 769 Apx/Shrm_Domain_2 . . . SHROOM3 381 0 383 31 0.0748792270531401 TRUE TRUE ENSG00000170561.13 . BCM GRCh38.p13 chr5 2751215 2751215 + G G A Nonsense_Mutation SNP ENST00000302057.6 exon1 c.C199T p.Q67X exonic ENSG00000170561.13 . stopgain ENSG00000170561.13:ENST00000302057.6:exon1:c.C199T:p.Q67X 5p15.33 C3L-02118 . . . . . . . . . 4.6 . . . . N A . . . 0.626 . . . . . . . . . D D . . 7.822 39 0.997 D N 0.565 5.582 0.332 3.908 1.000 0.598 0.574 0.520 0.639 . 3.290 3.290 5.132 1.058 0.462 1.000 1.000 0.559 958 . . . . IRX2 67 0 74 18 0.195652173913043 TRUE TRUE ENSG00000040731.10 . BCM GRCh38.p13 chr5 24593405 24593405 + G G A Missense_Mutation SNP ENST00000264463.8 exon2 c.C86T p.T29M exonic ENSG00000040731.10 . nonsynonymous SNV ENSG00000040731.10:ENST00000264463.8:exon2:c.C86T:p.T29M 5p14.2 C3L-02118 2.475e-05 0.0002 0 0 0 1.5e-05 0 0 rs140810299 4.20 D D B B N N L T N 0.428 T T T 0.097 . 0.616 0.572 T T T T T T 3.044 23.500 0.957 D D -0.313 1.583 -0.214 1.753 0.000 0.487 0.574 0.574 0.564 . 4.360 2.530 7.112 0.230 -0.185 1.000 0.881 0.796 939 . . . ID=COSV52574046;OCCURENCE=1(large_intestine),1(kidney) CDH10 287 0 297 16 0.0511182108626198 TRUE TRUE ENSG00000198721.12 . BCM GRCh38.p13 chr6 4117312 4117312 + G G T Missense_Mutation SNP ENST00000380118.7 exon9 c.C1025A p.P342Q exonic ENSG00000198721.12 . nonsynonymous SNV ENSG00000198721.12:ENST00000380118.7:exon9:c.C1025A:p.P342Q 6p25.2 C3L-02118 . . . . . . . . . 5.20 T T P P N D M T D 0.276 T T T 0.160 0.493 0.596 0.071 T T T T D T 2.556 22.500 0.984 D N 0.290 3.727 0.283 3.618 0.031 0.732 0.744 0.725 0.714 . 6.170 3.210 0.177 0.190 0.676 0.967 0.927 0.949 735 . . . . ECI2 71 1 80 8 0.0909090909090909 TRUE TRUE ENSG00000204542.3 . BCM GRCh38.p13 chr6 31111970 31111970 + G G A Missense_Mutation SNP ENST00000259870.4 exon2 c.C389T p.A130V exonic ENSG00000204542.3 . nonsynonymous SNV ENSG00000204542.3:ENST00000259870.4:exon2:c.C389T:p.A130V 6p21.33 C3L-02118 . . . . . . . . . 0.19 T T B B N N N T N 0.045 T T T 0.035 0.118 0.048 0.253 T T T T T . -1.613 0.001 0.574 N N -2.160 0.004 -2.193 0.005 1.000 0.497 0.590 0.547 0.542 . 4.940 -9.870 -2.498 -1.393 -1.622 0.000 0.000 0.000 929 . . . . C6orf15 293 1 349 44 0.111959287531807 TRUE NA ENSG00000135577.4 . BCM GRCh38.p13 chr6 142078748 142078748 + C C T Missense_Mutation SNP ENST00000258042.1 exon2 c.G578A p.S193N exonic ENSG00000135577.4 . nonsynonymous SNV ENSG00000135577.4:ENST00000258042.1:exon2:c.G578A:p.S193N 6q24.1 C3L-02118 . . . . . . . . rs745523807 0.20 T T B B N N L T N 0.209 T T T 0.035 0.305 0.469 0.047 T T T T T T 1.021 11.880 0.929 N N -0.616 0.958 -0.476 1.240 0.000 0.487 0.574 0.547 0.542 . 5.480 3.580 0.625 1.022 0.543 0.125 0.814 0.836 928 GPCR,_rhodopsin-like,_7TM . . . NMBR 195 0 236 22 0.0852713178294574 TRUE NA ENSG00000078269.15 . BCM GRCh38.p13 chr6 158083486 158083486 + C C T Nonsense_Mutation SNP ENST00000355585.9 exon21 c.C2923T p.R975X exonic ENSG00000078269.15 . stopgain ENSG00000078269.15:ENST00000355585.9:exon21:c.C2923T:p.R975X 6q25.3 C3L-02118 2.471e-05 9.612e-05 8.643e-05 0 0 1.499e-05 0 0 rs201799213 4.6 . . . . N A . . . 0.445 . . . . . . . . . D D . . 8.403 42 0.998 D N 0.661 6.605 0.457 4.793 1.000 0.722 0.546 0.710 0.735 . 5.430 3.480 1.078 0.074 0.549 1.000 0.795 0.970 964 Domain_of_unknown_function_DUF1866 . . . SYNJ2 186 0 219 35 0.137795275590551 TRUE NA ENSG00000173114.13 . BCM GRCh38.p13 chr7 111123650 111123650 + A A G Missense_Mutation SNP ENST00000308478.10 exon3 c.A878G p.N293S exonic ENSG00000173114.13 . nonsynonymous SNV ENSG00000173114.13:ENST00000308478.10:exon3:c.A878G:p.N293S 7q31.1 C3L-02118 . . . . . . . . . 6.20 T T B B D D L T N 0.125 T T T 0.088 0.711 0.396 0.208 T T T T D D 1.968 19.010 0.971 D D 0.035 2.638 0.233 3.347 0.962 0.554 0.588 0.574 0.613 . 5.760 5.760 5.405 1.312 0.756 1.000 0.991 0.997 627 . . . . LRRN3 137 0 152 26 0.146067415730337 TRUE TRUE ENSG00000174697.5 . BCM GRCh38.p13 chr7 128254692 128254692 + G G A Missense_Mutation SNP ENST00000308868.5 exon3 c.G433A p.V145M exonic ENSG00000174697.5 . nonsynonymous SNV ENSG00000174697.5:ENST00000308868.5:exon3:c.G433A:p.V145M 7q32.1 C3L-02118 . . . . . . . . . 14.20 D D D D D D M T N 0.608 D T D 0.593 0.711 0.858 1.442 T T D D D D 3.797 25.800 0.998 D N 0.639 6.343 0.591 6.113 0.931 0.487 0.574 0.547 0.542 . 5.540 4.630 3.699 1.176 0.676 1.000 0.996 0.941 647 . . . . LEP 181 0 227 14 0.0580912863070539 TRUE TRUE ENSG00000091656.19 . BCM GRCh38.p13 chr8 76852869 76852869 + G G A Missense_Mutation SNP ENST00000651372.2 exon10 c.G5948A p.R1983H exonic ENSG00000091656.19 . nonsynonymous SNV ENSG00000091656.19:ENST00000651372.2:exon10:c.G5948A:p.R1983H 8q21.13 C3L-02118 6.019e-05 0 0 0 0 7.797e-05 0 0.0001 rs757178425 6.16 D D . . U D . T N 0.524 T T T 0.123 . 0.117 0.560 T . T T T D 3.267 24.000 0.998 D D 0.423 4.490 0.445 4.696 1.000 0.554 0.590 0.574 0.621 . 4.200 4.200 4.393 1.150 0.646 1.000 1.000 0.998 798 . . . ID=COSV50506049;OCCURENCE=2(large_intestine),7(pancreas),1(lung),1(endometrium) ZFHX4 105 0 154 20 0.114942528735632 TRUE TRUE ENSG00000204291.11 . BCM GRCh38.p13 chr9 99035098 99035098 + C C T Missense_Mutation SNP ENST00000375001.8 exon18 c.C2164T p.P722S exonic ENSG00000204291.11 . nonsynonymous SNV ENSG00000204291.11:ENST00000375001.8:exon18:c.C2164T:p.P722S 9q22.33 C3L-02118 . . . . . . . . . 15.20 T D D D D D N D D 0.426 D D D 0.503 0.446 0.884 0.425 T D D T D T 2.986 23.400 0.998 D D 0.583 5.759 0.581 5.992 1.000 0.487 0.590 0.574 0.613 . 5.690 5.690 2.905 1.026 0.599 0.972 0.998 0.957 856 . . . . COL15A1 97 0 121 25 0.171232876712329 TRUE TRUE ENSG00000181752.3 . BCM GRCh38.p13 chr11 56159435 56159435 + C C T Missense_Mutation SNP ENST00000313447.1 exon1 c.G883A p.E295K exonic ENSG00000181752.3 . nonsynonymous SNV ENSG00000181752.3:ENST00000313447.1:exon1:c.G883A:p.E295K 11q12.1 C3L-02118 8.343e-06 9.718e-05 0 0 0 0 0 0 rs376114385 0.20 T T B B N N N T N 0.076 T T T 0.120 . 0.250 0.005 T T T T T T 0.566 7.178 0.155 N N -1.341 0.144 -1.053 0.426 0.000 0.487 0.574 0.574 0.564 . 3.880 3.880 0.439 0.025 -0.203 0.000 0.120 0.007 161 . . . ID=COSV57888140;OCCURENCE=7(skin) OR8K5 83 0 99 9 0.0833333333333333 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227341 25227341 + T T G Missense_Mutation SNP ENST00000256078.10 exon3 c.A183C p.Q61H exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A183C:p.Q61H 12p12.1 C3L-02118 . . . . . . . . rs17851045 17.20 D D B B D D M D D 0.760 D D D 0.644 0.659 0.905 1.857 D D D D D T 2.993 23.400 0.997 D D 0.298 3.768 0.383 4.239 0.998 0.722 0.710 0.710 0.735 . 5.770 5.770 2.812 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55498802;OCCURENCE=2(breast),6(liver),1(genital_tract),1(cervix),117(large_intestine),2(central_nervous_system),17(biliary_tract),3(ovary),8(stomach),50(haematopoietic_and_lymphoid_tissue),2(urinary_tract),1(kidney),71(pancreas),2(skin),2(prostate),28(lung),1(thyroid),2(small_intestine),5(endometrium) KRAS 183 0 223 5 0.0219298245614035 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02118 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 254 0 279 33 0.105769230769231 TRUE TRUE ENSG00000261308.2 . BCM GRCh38.p13 chr12 51821752 51821752 + G G A Missense_Mutation SNP ENST00000618634.2 exon2 c.C662T p.P221L exonic ENSG00000261308.2 . nonsynonymous SNV ENSG00000261308.2:ENST00000618634.2:exon2:c.C662T:p.P221L 12q13.13 C3L-02118 . . . . . . . . . 2.7 . . B B . . M . . . . . . . . . . D T . . . T 2.176 20.700 0.956 N . . . . . 1.000 0.111 0.060 0.120 0.063 0.116 4.180 2.280 2.789 0.942 0.496 0.991 0.068 0.108 478 . . . . FIGNL2 19 0 16 5 0.238095238095238 TRUE NA ENSG00000139318.8 . BCM GRCh38.p13 chr12 89350605 89350605 + - NA GA Frame_Shift_Ins INS ENST00000279488.8 exon2 c.820_821insTC p.E274Vfs*7 exonic ENSG00000139318.8 . frameshift insertion ENSG00000139318.8:ENST00000279488.8:exon2:c.820_821insTC:p.E274Vfs*7 12q21.33 C3L-02118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP6 NA NA NA NA NA NA NA ENSG00000111252.11 . BCM GRCh38.p13 chr12 111447531 111447531 + A A G Missense_Mutation SNP ENST00000341259.7 exon6 c.A1223G p.Q408R exonic ENSG00000111252.11 . nonsynonymous SNV ENSG00000111252.11:ENST00000341259.7:exon6:c.A1223G:p.Q408R 12q24.12 C3L-02118 . . . . . . . . . 14.20 D D D D D D L T D 0.777 T T D 0.368 0.438 0.863 0.398 T D D T D D 4.056 27.400 0.997 D D 0.538 5.344 0.547 5.621 1.000 0.722 0.699 0.698 0.735 . 5.000 5.000 7.147 1.312 0.756 1.000 0.998 0.987 601 SH2_domain;SH2B3,_SH2_domain . . . SH2B3 137 1 136 14 0.0933333333333333 TRUE NA ENSG00000178235.8 . BCM GRCh38.p13 chr13 83881341 83881341 + G G A Missense_Mutation SNP ENST00000377084.3 exon1 c.C167T p.P56L exonic ENSG00000178235.8 . nonsynonymous SNV ENSG00000178235.8:ENST00000377084.3:exon1:c.C167T:p.P56L 13q31.1 C3L-02118 1.65e-05 0 0 0 0 3.002e-05 0 0 rs765288417 11.20 T D P B D D M T D 0.642 T T T 0.212 0.678 0.162 0.742 D D T T D D 3.027 23.500 0.994 D D 0.418 4.456 0.495 5.111 1.000 0.658 0.588 0.619 0.564 . 4.890 4.890 8.190 1.176 0.676 1.000 1.000 0.997 973 . . . . SLITRK1 229 1 181 49 0.21304347826087 TRUE NA ENSG00000139908.15 . BCM GRCh38.p13 chr14 24206074 24206074 + G G T Missense_Mutation SNP ENST00000287913.10 exon1 c.G151T p.V51L exonic ENSG00000139908.15 . nonsynonymous SNV ENSG00000139908.15:ENST00000287913.10:exon1:c.G151T:p.V51L 14q12 C3L-02118 . . . . . . . . . 7.19 D D P P N D L T N 0.496 T T D 0.509 0.781 0.750 0.218 T T T T D . 3.226 23.900 0.993 D D 0.164 3.148 0.195 3.158 1.000 0.461 0.577 0.576 0.492 . 5.270 4.380 4.609 0.222 -0.110 1.000 0.999 0.980 895 Protein_kinase_domain;Protein_kinase,_ATP_binding_site . . ID=COSV104383239;OCCURENCE=1(pancreas) TSSK4 325 0 389 30 0.0715990453460621 TRUE TRUE ENSG00000119715.15 . BCM GRCh38.p13 chr14 76491590 76491590 + C C T Missense_Mutation SNP ENST00000380887.7 exon8 c.C931T p.H311Y exonic ENSG00000119715.15 . nonsynonymous SNV ENSG00000119715.15:ENST00000380887.7:exon8:c.C931T:p.H311Y 14q24.3 C3L-02118 . . . . . . . . . 12.20 T T P P D D L D N 0.627 D D D 0.735 0.572 0.831 0.602 T T D D D D 2.873 23.200 0.998 D D 0.637 6.324 0.727 8.290 1.000 0.487 0.547 0.547 0.564 . 6.060 6.060 7.905 1.022 0.596 1.000 1.000 0.997 815 Nuclear_hormone_receptor,_ligand-binding_domain . . . ESRRB 290 0 324 53 0.140583554376658 TRUE TRUE ENSG00000172366.20 . BCM GRCh38.p13 chr16 642189 642189 + C C A Missense_Mutation SNP ENST00000307650.9 exon2 c.C122A p.T41N exonic ENSG00000172366.20 . nonsynonymous SNV ENSG00000172366.20:ENST00000307650.9:exon2:c.C122A:p.T41N 16p13.3 C3L-02118 . . . . . . . . . 2.18 T T B B U N . . N 0.171 T T D 0.024 0.284 0.048 0.386 D T T T T T 1.299 14.380 0.948 N N -0.831 0.611 -0.786 0.778 1.000 0.767 0.522 0.851 0.604 . 2.710 2.710 0.788 0.806 0.442 0.000 0.260 0.647 649 . . . . MCRIP2 70 0 128 22 0.146666666666667 TRUE 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 C3L-02118 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 282 0 321 47 0.127717391304348 TRUE TRUE ENSG00000277363.5 . BCM GRCh38.p13 chr17 38559653 38559653 + G G A Missense_Mutation SNP ENST00000617146.5 exon10 c.C1957T p.H653Y exonic ENSG00000277363.5 . nonsynonymous SNV ENSG00000277363.5:ENST00000617146.5:exon10:c.C1957T:p.H653Y 17q12 C3L-02118 . . . . . . . . . 4.12 . T . . N D . . . 0.367 T T T 0.080 . 0.043 . T . T T D . 2.681 22.800 0.990 D D -0.171 1.959 -0.031 2.255 1.000 0.685 0.552 0.674 0.639 . 5.010 3.890 6.089 1.176 0.676 1.000 0.998 0.902 192 . . . . SRCIN1 160 0 254 45 0.150501672240803 TRUE NA ENSG00000167850.4 . BCM GRCh38.p13 chr17 74544819 74544819 + G G A Nonsense_Mutation SNP ENST00000330793.2 exon2 c.C190T p.R64X exonic ENSG00000167850.4 . stopgain ENSG00000167850.4:ENST00000330793.2:exon2:c.C190T:p.R64X 17q25.1 C3L-02118 0.0003 0.0021 0.0003 0.0005 0 4.495e-05 0 6.057e-05 rs59461308 2.6 . . . . N A . . . 0.056 . . . . . . . . . T D . . 4.270 29.300 0.991 N N -0.142 2.045 -0.573 1.087 1.000 0.554 0.588 0.547 0.564 . 3.280 -2.040 -1.336 -0.440 -0.824 0.000 0.000 0.000 793 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV58170375;OCCURENCE=1(large_intestine),3(skin) CD300C 209 0 230 27 0.105058365758755 NA TRUE ENSG00000160877.6 . BCM GRCh38.p13 chr19 13137367 13137367 + T T C Missense_Mutation SNP ENST00000292431.5 exon4 c.T1217C p.F406S exonic ENSG00000160877.6 . nonsynonymous SNV ENSG00000160877.6:ENST00000292431.5:exon4:c.T1217C:p.F406S 19p13.13 C3L-02118 8.343e-06 0 0 0 0 0 0 6.069e-05 rs531044891 10.20 D D P P N D N T D 0.906 T T D 0.306 0.804 0.339 2.854 D D T T D T 3.995 26.900 0.995 D D 0.030 2.621 0.041 2.505 1.000 0.707 0.702 0.702 0.714 . 4.860 3.840 7.938 1.134 -0.137 1.000 1.000 0.733 754 BEN_domain . . . NACC1 75 0 119 28 0.19047619047619 TRUE NA ENSG00000133422.13 . BCM GRCh38.p13 chr22 30941891 30941891 + G G A Missense_Mutation SNP ENST00000397641.8 exon8 c.C698T p.T233M exonic ENSG00000133422.13 . nonsynonymous SNV ENSG00000133422.13:ENST00000397641.8:exon8:c.C698T:p.T233M 22q12.2 C3L-02118 . . . . . . . . rs924468105 7.20 T T D P D D L T N 0.334 T T T 0.156 0.324 0.213 1.147 T T T T D D 3.972 26.800 0.986 D D 0.685 6.921 0.705 7.840 1.000 0.707 0.654 0.725 0.714 . 5.680 5.680 7.367 1.176 0.676 1.000 1.000 0.863 641 . . . . MORC2 110 0 107 26 0.195488721804511 TRUE NA ENSG00000073150.14 . BCM GRCh38.p13 chr22 50177377 50177377 + T T C Missense_Mutation SNP ENST00000395842.3 exon2 c.T665C p.F222S exonic ENSG00000073150.14 . nonsynonymous SNV ENSG00000073150.14:ENST00000395842.3:exon2:c.T665C:p.F222S 22q13.33 C3L-02118 . . . . . . . . . 10.20 T D P P D D N T N 0.845 T T T 0.323 0.665 0.296 3.285 D T D D D D 3.657 25.200 0.997 D D 0.346 4.027 0.428 4.559 1.000 0.718 0.588 0.571 0.700 . 5.070 5.070 7.584 1.135 0.665 1.000 1.000 0.999 702 . . . . PANX2 105 0 167 11 0.0617977528089888 TRUE TRUE ENSG00000187754.9 . BCM GRCh38.p13 chrX 52648325 52648325 + G G T Missense_Mutation SNP ENST00000298181.6 exon6 c.C402A p.N134K exonic ENSG00000187754.9 . nonsynonymous SNV ENSG00000187754.9:ENST00000298181.6:exon6:c.C402A:p.N134K Xp11.22 C3L-02118 . . . . . . . . . 1.18 T T B B N N M T N 0.141 T T T 0.039 0.291 0.014 0.012 . T T T T T -1.160 0.003 0.348 N . . . . . 0.173 . . . . . 0.560 -1.120 -1.418 -1.451 -2.804 0.000 0.000 0.000 484 . . . . SSX7 196 1 222 12 0.0512820512820513 TRUE TRUE ENSG00000102053.12 . BCM GRCh38.p13 chrX 65502161 65502161 + G G A Missense_Mutation SNP ENST00000338957.4 exon5 c.G1463A p.R488H exonic ENSG00000102053.12 . nonsynonymous SNV ENSG00000102053.12:ENST00000338957.4:exon5:c.G1463A:p.R488H Xq12 C3L-02118 . . . . . . . . . 6.17 D T . . D D N T N 0.480 T T T 0.211 . 0.428 1.589 T T T T D D 3.913 26.400 0.999 D . . . . . 1.000 . . . . . 4.700 4.700 7.951 1.176 0.676 1.000 1.000 0.994 434 . . . . ZC3H12B 117 0 131 10 0.0709219858156028 TRUE TRUE ENSG00000028137.19 . BCM GRCh38.p13 chr1 12202092 12202092 + G G A Silent SNP ENST00000376259.7 exon9 c.G1026A p.A342A exonic ENSG00000028137.19 . synonymous SNV ENSG00000028137.19:ENST00000376259.7:exon9:c.G1026A:p.A342A 1p36.22 C3L-02118 2.73e-05 0 0 0 0 5.391e-05 0 0 rs776068574 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66164008;OCCURENCE=1(stomach) TNFRSF1B 231 0 370 36 0.0886699507389163 TRUE TRUE ENSG00000173175.14 . BCM GRCh38.p13 chr3 123286799 123286799 + G G A Silent SNP ENST00000462833.5 exon20 c.C3543T p.I1181I exonic ENSG00000173175.14 . synonymous SNV ENSG00000173175.14:ENST00000462833.5:exon20:c.C3543T:p.I1181I 3q21.1 C3L-02118 2.595e-05 0.0003 0 0 0 0 0 0 rs746474779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59199681;OCCURENCE=1(biliary_tract) ADCY5 76 0 114 11 0.088 TRUE TRUE ENSG00000039600.11 . BCM GRCh38.p13 chr5 157646761 157646761 + G G A Silent SNP ENST00000265007.11 exon3 c.C1263T p.S421S exonic ENSG00000039600.11 . synonymous SNV ENSG00000039600.11:ENST00000265007.11:exon3:c.C1263T:p.S421S 5q33.3 C3L-02118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOX30 342 1 264 53 0.167192429022082 TRUE TRUE ENSG00000197157.11 . BCM GRCh38.p13 chr7 127694875 127694875 + G G A Silent SNP ENST00000354725.8 exon3 c.G276A p.G92G exonic ENSG00000197157.11 . synonymous SNV ENSG00000197157.11:ENST00000354725.8:exon3:c.G276A:p.G92G 7q32.1 C3L-02118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SND1 131 0 158 13 0.0760233918128655 TRUE NA ENSG00000148600.15 . BCM GRCh38.p13 chr10 84197836 84197836 + G G A Silent SNP ENST00000623527.4 exon4 c.G348A p.L116L exonic ENSG00000148600.15 . synonymous SNV ENSG00000148600.15:ENST00000623527.4:exon4:c.G348A:p.L116L 10q23.1 C3L-02118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDHR1 293 0 340 49 0.125964010282776 TRUE TRUE ENSG00000123407.4 . BCM GRCh38.p13 chr12 53955229 53955229 + C C T Silent SNP ENST00000243103.4 exon1 c.C300T p.A100A exonic ENSG00000123407.4 . synonymous SNV ENSG00000123407.4:ENST00000243103.4:exon1:c.C300T:p.A100A 12q13.13 C3L-02118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXC12 77 0 78 26 0.25 TRUE TRUE ENSG00000072041.17 . BCM GRCh38.p13 chr12 84892019 84892019 + A A G Silent SNP ENST00000266682.10 exon2 c.T102C p.F34F exonic ENSG00000072041.17 . synonymous SNV ENSG00000072041.17:ENST00000266682.10:exon2:c.T102C:p.F34F 12q21.31 C3L-02118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC6A15 307 0 239 36 0.130909090909091 TRUE TRUE ENSG00000047346.12 . BCM GRCh38.p13 chr15 52610014 52610014 + T T C Silent SNP ENST00000261844.11 exon6 c.A900G p.L300L exonic ENSG00000047346.12 . synonymous SNV ENSG00000047346.12:ENST00000261844.11:exon6:c.A900G:p.L300L 15q21.3 C3L-02118 4.244e-05 0.0001 0 0.0005 0 0 0 0 rs200513144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM214A 177 0 128 15 0.104895104895105 TRUE NA ENSG00000149654.11 . BCM GRCh38.p13 chr20 46186661 46186661 + G G A Silent SNP ENST00000537909.4 exon10 c.C1590T p.G530G exonic ENSG00000149654.11 . synonymous SNV ENSG00000149654.11:ENST00000537909.4:exon10:c.C1590T:p.G530G 20q13.12 C3L-02118 0.0020 0.0206 0.0007 0 0 0.0002 0.0011 0.0002 rs1883837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100953020;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) CDH22 141 0 202 32 0.136752136752137 TRUE NA ENSG00000188064.10 . BCM GRCh38.p13 chr22 45931344 45931344 + G G A Silent SNP ENST00000339464.9 exon3 c.C324T p.Y108Y exonic ENSG00000188064.10 . synonymous SNV ENSG00000188064.10:ENST00000339464.9:exon3:c.C324T:p.Y108Y 22q13.31 C3L-02118 4.611e-05 0 9.166e-05 0 0 6.732e-05 0 0 rs375198790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59750407;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) WNT7B 77 0 116 25 0.177304964539007 TRUE NA ENSG00000163703.19 . BCM GRCh38.p13 chr3 9943944 9943944 + G G A Intron SNP NA NA NA NA intronic ENSG00000163703.19;ENSG00000288550.1 . . . 3p25.3 C3L-02118 7.413e-05 0 0 0 0 7.492e-05 0 0.0002 rs369653816 0.18 T T B B N N . T N 0.092 T T T 0.071 . 0.234 0.184 T . T T T T -1.320 0.001 0.746 N N -1.611 0.053 -1.754 0.041 1.000 0.672 0.702 0.644 0.492 . 3.280 -6.330 -2.297 -2.400 -1.781 0.000 0.000 0.000 628 . . . . CRELD1 315 0 336 46 0.120418848167539 TRUE NA ENSG00000002079.14 . BCM GRCh38.p13 chr7 99296890 99296890 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000002079.14 . . . 7q22.1 C3L-02118 0.0002 0 0 0 0 0.0005 0 0.0001 rs777991094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH16 230 0 242 28 0.103703703703704 TRUE NA ENSG00000048392.12 . BCM GRCh38.p13 chr8 102238729 102238729 + A A G Intron SNP NA NA NA NA intronic ENSG00000048392.12 . . . 8q22.3 C3L-02118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RRM2B 266 0 434 68 0.135458167330677 TRUE TRUE ENSG00000156150.9 . BCM GRCh38.p13 chr1 110061454 110061454 + C C T Missense_Mutation SNP ENST00000647563.2 exon3 c.G704A p.R235H exonic ENSG00000156150.9 . nonsynonymous SNV ENSG00000156150.9:ENST00000647563.2:exon3:c.G704A:p.R235H 1p13.3 C3L-03628 9.887e-05 0 8.637e-05 0.0006 0 0 0 0.0004 rs199753639 11.20 D D B B N D M D D 0.360 T D D 0.313 0.384 0.970 1.002 T D T T T D 3.002 23.400 0.998 D N -0.489 1.198 -0.414 1.348 1.000 0.737 0.380 0.733 0.684 . 4.980 3.110 4.983 -1.326 -1.865 0.999 0.009 0.758 429 . . . ID=COSV63928745;OCCURENCE=1(large_intestine) ALX3 360 1 500 35 0.0654205607476635 TRUE TRUE ENSG00000075340.23 . BCM GRCh38.p13 chr2 70677859 70677859 + C C T Missense_Mutation SNP ENST00000264436.9 exon12 c.G1402A p.V468M exonic ENSG00000075340.23 . nonsynonymous SNV ENSG00000075340.23:ENST00000264436.9:exon12:c.G1402A:p.V468M 2p13.3 C3L-03628 . . . . . . . . . 5.20 T T P B D D L T N 0.384 T T T 0.062 0.182 0.416 0.800 T T T T D D 2.252 21.300 0.987 D N -0.153 2.012 0.022 2.434 0.618 0.672 0.627 0.702 0.542 . 5.400 4.520 0.842 1.026 0.599 0.203 0.995 0.991 748 . . . . ADD2 154 0 234 17 0.0677290836653386 TRUE TRUE ENSG00000135636.14 . BCM GRCh38.p13 chr2 71526263 71526263 + G G A Missense_Mutation SNP ENST00000258104.7 exon12 c.G1097A p.S366N exonic ENSG00000135636.14 . nonsynonymous SNV ENSG00000135636.14:ENST00000258104.7:exon12:c.G1097A:p.S366N 2p13.2 C3L-03628 . . . . . . . . . 3.20 T T B B N N L T N 0.135 T T T 0.213 0.391 0.758 0.139 T T T T T D 2.370 22.000 0.982 D D -0.239 1.770 -0.107 2.028 1.000 0.707 0.590 0.659 0.714 . 5.330 4.420 3.861 0.222 0.676 1.000 0.993 0.989 541 FerIin_domain . . ID=COSV50301205;OCCURENCE=1(stomach) DYSF 370 0 518 38 0.0683453237410072 TRUE TRUE ENSG00000154162.15 . BCM GRCh38.p13 chr5 21751801 21751801 + C C T Missense_Mutation SNP ENST00000382254.6 exon15 c.G2321A p.R774H exonic ENSG00000154162.15 . nonsynonymous SNV ENSG00000154162.15:ENST00000382254.6:exon15:c.G2321A:p.R774H 5p14.3 C3L-03628 . . . . . . . . . 11.20 D D B B D D M T D 0.425 T T D 0.506 0.887 0.824 0.809 T T T T D D 2.576 22.600 0.999 D D 0.149 3.086 0.215 3.259 0.987 0.554 0.574 0.574 0.621 . 5.180 4.310 3.432 1.026 0.549 1.000 1.000 0.999 853 Cadherin,_cytoplasmic_domain . . ID=COSV66401295;OCCURENCE=1(large_intestine),1(skin) CDH12 246 0 304 22 0.0674846625766871 TRUE TRUE ENSG00000131711.15 . BCM GRCh38.p13 chr5 72194331 72194331 + C C T Missense_Mutation SNP ENST00000296755.12 exon5 c.C976T p.R326W exonic ENSG00000131711.15 . nonsynonymous SNV ENSG00000131711.15:ENST00000296755.12:exon5:c.C976T:p.R326W 5q13.2 C3L-03628 . . . . . . . . rs200457818 17.20 D D D D D D M T D 0.942 T T D 0.444 0.511 0.800 0.885 D D D D D D 3.853 26.100 0.999 D D 0.755 7.967 0.727 8.281 1.000 0.707 0.627 0.725 0.714 . 6.170 5.230 1.250 0.124 0.599 1.000 1.000 0.998 234 . . . ID=COSV57096970;OCCURENCE=2(large_intestine) MAP1B 344 0 448 28 0.0588235294117647 TRUE TRUE ENSG00000196821.10 . BCM GRCh38.p13 chr6 34696569 34696569 + A A G Missense_Mutation SNP ENST00000374023.8 exon1 c.T35C p.L12P exonic ENSG00000196821.10 . nonsynonymous SNV ENSG00000196821.10:ENST00000374023.8:exon1:c.T35C:p.L12P 6p21.31 C3L-03628 . . . . . . . . . 15.18 D D D D D D M . D 0.925 T T D 0.508 0.719 0.615 3.576 . T D D D D 4.316 29.700 0.998 D D 0.608 6.004 0.477 4.953 1.000 0.442 0.522 0.522 0.562 . 2.500 2.500 7.877 1.194 0.614 1.000 1.000 0.998 321 . . . . ILRUN 137 1 230 24 0.094488188976378 TRUE TRUE ENSG00000122728.6 . BCM GRCh38.p13 chr9 32633970 32633970 + T T C Missense_Mutation SNP ENST00000242310.4 exon1 c.A1610G p.E537G exonic ENSG00000122728.6 . nonsynonymous SNV ENSG00000122728.6:ENST00000242310.4:exon1:c.A1610G:p.E537G 9p21.1 C3L-03628 . . . . . . . . . 7.20 D T B B D D L T D 0.202 T T T 0.106 0.162 0.370 0.163 T T T T D D 1.731 17.240 0.993 D N -0.522 1.134 -0.491 1.217 0.829 0.638 0.670 0.659 0.655 . 1.160 1.160 5.218 0.298 0.266 1.000 0.718 0.429 835 . . . . TAF1L 292 0 348 31 0.0817941952506596 NA TRUE ENSG00000196730.13 . BCM GRCh38.p13 chr9 87681585 87681585 + C C T Missense_Mutation SNP ENST00000408954.8 exon20 c.C2183T p.S728F exonic ENSG00000196730.13 . nonsynonymous SNV ENSG00000196730.13:ENST00000408954.8:exon20:c.C2183T:p.S728F 9q21.33 C3L-03628 . . . . . . . . . 9.20 D D P B D D L T N 0.552 T T D 0.185 0.188 0.642 0.769 T T T T D D 2.637 22.700 0.995 D D 0.330 3.937 0.353 4.044 1.000 0.707 0.725 0.725 0.714 . 5.170 5.170 4.557 1.023 0.595 1.000 0.782 0.282 865 Roc_domain . . . DAPK1 279 1 408 29 0.0663615560640732 TRUE TRUE ENSG00000182752.10 . BCM GRCh38.p13 chr9 116271390 116271390 + G G A Missense_Mutation SNP ENST00000328252.4 exon9 c.G2927A p.R976Q exonic ENSG00000182752.10 . nonsynonymous SNV ENSG00000182752.10:ENST00000328252.4:exon9:c.G2927A:p.R976Q 9q33.1 C3L-03628 4.942e-05 0 0 0.0003 0 2.997e-05 0 6.057e-05 rs374222533 0.20 T T B B N N N T N 0.107 T T T 0.008 . 0.162 0.407 T T T T T T 0.352 4.888 0.914 N N -1.424 0.107 -1.354 0.176 1.000 0.598 0.590 0.596 0.564 . 4.780 -2.840 -0.696 -1.741 -1.600 0.001 0.369 0.946 426 . . . ID=COSV60281341;OCCURENCE=1(large_intestine),1(central_nervous_system) PAPPA 213 0 325 21 0.0606936416184971 TRUE TRUE ENSG00000156502.14 . BCM GRCh38.p13 chr10 69187694 69187694 + T T G Missense_Mutation SNP ENST00000359655.9 exon4 c.T510G p.F170L exonic ENSG00000156502.14 . nonsynonymous SNV ENSG00000156502.14:ENST00000359655.9:exon4:c.T510G:p.F170L 10q22.1 C3L-03628 . . . . . . . . . 15.20 D T D D D D M T D 0.741 T T D 0.323 0.520 0.636 1.070 D D D D D D 3.720 25.500 0.998 D N 0.398 4.330 0.344 3.986 0.211 0.707 0.725 0.725 0.714 . 5.370 2.620 1.458 0.197 0.665 1.000 1.000 1.000 748 . . . . SUPV3L1 123 0 219 14 0.0600858369098712 TRUE TRUE ENSG00000205495.1 . BCM GRCh38.p13 chr11 5046983 5046983 + G G A Missense_Mutation SNP ENST00000380370.1 exon1 c.G458A p.R153H exonic ENSG00000205495.1 . nonsynonymous SNV ENSG00000205495.1:ENST00000380370.1:exon1:c.G458A:p.R153H 11p15.4 C3L-03628 2.477e-05 0 8.708e-05 0 0 1.501e-05 0 6.058e-05 rs759986415 4.20 D D B B N N M T D 0.092 T T T 0.083 0.632 0.183 0.014 T T T T T T 0.763 9.037 0.935 N N -0.929 0.485 -1.065 0.413 0.001 0.487 0.574 0.492 0.564 . 4.190 1.010 -0.553 -0.608 -0.745 0.000 0.000 0.004 841 GPCR,_rhodopsin-like,_7TM . . ID=COSV66746819;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(pancreas),1(small_intestine) OR52J3 236 0 344 22 0.0601092896174863 TRUE TRUE ENSG00000187398.12 . BCM GRCh38.p13 chr11 24763291 24763291 + C C T Nonsense_Mutation SNP ENST00000336930.11 exon5 c.C379T p.R127X exonic ENSG00000187398.12 . stopgain ENSG00000187398.12:ENST00000336930.11:exon5:c.C379T:p.R127X 11p14.3 C3L-03628 . . . . . . . . . 5.6 . . . . D A . . . 0.546 . . . . . . . . . D D . . 7.999 40 0.997 D N 0.694 7.037 0.544 5.583 0.002 0.487 0.574 0.547 0.564 . 4.510 4.510 1.191 1.008 0.547 1.000 0.997 0.996 982 . . . ID=COSV61204414;OCCURENCE=2(skin),1(endometrium) LUZP2 17 0 37 6 0.13953488372093 TRUE TRUE ENSG00000134824.14 . BCM GRCh38.p13 chr11 61862974 61862974 + C C A Missense_Mutation SNP ENST00000278840.9 exon8 c.C885A p.D295E exonic ENSG00000134824.14 . nonsynonymous SNV ENSG00000134824.14:ENST00000278840.9:exon8:c.C885A:p.D295E 11q12.2 C3L-03628 . . . . . . . . . 12.20 D D P P D D M T D 0.693 T T D 0.542 0.558 0.928 1.074 T T D D D D 2.861 23.100 0.997 D N -0.039 2.375 0.015 2.411 1.000 0.672 0.702 0.702 0.711 . 5.000 4.090 1.784 1.026 0.594 0.961 0.988 0.949 779 Fatty_acid_desaturase_domain . . . FADS2 225 0 311 19 0.0575757575757576 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3L-03628 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 319 0 424 61 0.125773195876289 TRUE TRUE ENSG00000177169.10 . BCM GRCh38.p13 chr12 131909227 131909227 + C C T Missense_Mutation SNP ENST00000321867.6 exon8 c.C656T p.A219V exonic ENSG00000177169.10 . nonsynonymous SNV ENSG00000177169.10:ENST00000321867.6:exon8:c.C656T:p.A219V 12q24.33 C3L-03628 . . . . . . . . . 12.20 D D D D D D N T D 0.654 T T D 0.334 0.599 0.368 2.237 T T T T D D 4.127 28.000 0.999 D D 0.529 5.269 0.548 5.631 1.000 0.707 0.644 0.571 0.714 . 4.770 4.770 7.805 1.015 0.549 1.000 0.973 0.966 976 Protein_kinase_domain . . . ULK1 135 1 227 21 0.0846774193548387 TRUE TRUE ENSG00000166825.14 . BCM GRCh38.p13 chr15 89790472 89790472 + A A C Nonsense_Mutation SNP ENST00000300060.7 exon20 c.T2739G p.Y913X exonic ENSG00000166825.14 . stopgain ENSG00000166825.14:ENST00000300060.7:exon20:c.T2739G:p.Y913X 15q26.1 C3L-03628 . . . . . . . . . 3.6 . . . . N D . . . 0.817 . . . . . . . . . D D . . 5.880 35 0.988 N N -0.207 1.857 -0.577 1.080 0.995 0.672 0.547 0.659 0.711 . 4.980 -4.950 -0.456 -1.400 -0.590 0.000 0.019 0.482 476 ERAP1-like_C-terminal_domain . . . ANPEP 251 0 351 26 0.0689655172413793 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674268 7674268 + A A C Missense_Mutation SNP ENST00000269305.8 exon7 c.T695G p.I232S exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.T695G:p.I232S 17p13.1 C3L-03628 . . . . . . . . . 19.20 D D D D D D M D D 0.903 D D D 0.935 0.732 0.988 1.973 T D D D D D 4.360 31 0.995 D D 0.755 7.963 0.705 7.853 0.998 0.722 0.702 0.725 0.735 . 4.620 4.620 9.300 1.291 0.751 1.000 1.000 0.998 433 p53,_DNA-binding_domain . . ID=COSV52829354;OCCURENCE=5(breast),1(liver),2(oesophagus),2(large_intestine),2(central_nervous_system),1(upper_aerodigestive_tract) TP53 431 0 502 46 0.0839416058394161 TRUE TRUE ENSG00000270885.2 . BCM GRCh38.p13 chr17 35740532 35740532 + A A G Missense_Mutation SNP ENST00000603017.2 exon3 c.A340G p.R114G exonic ENSG00000270885.2 . nonsynonymous SNV ENSG00000270885.2:ENST00000603017.2:exon3:c.A340G:p.R114G 17q12 C3L-03628 . . . . . . . . . 15.18 . D D P D D M T . 0.879 D D D 0.793 0.725 0.926 . D D D D D T 5.204 33 0.999 D D 0.597 5.891 0.563 5.791 1.000 0.610 0.627 0.494 0.616 . 5.010 5.010 5.880 1.312 0.756 1.000 0.977 0.787 657 . . . . RASL10B 75 0 137 10 0.0680272108843537 TRUE TRUE ENSG00000128000.16 . BCM GRCh38.p13 chr19 40036440 40036440 + T T C Missense_Mutation SNP ENST00000434248.6 exon5 c.A419G p.N140S exonic ENSG00000128000.16 . nonsynonymous SNV ENSG00000128000.16:ENST00000434248.6:exon5:c.A419G:p.N140S 19q13.2 C3L-03628 . . . . . . . . . 0.18 T T B B . N N T N 0.014 T T T 0.012 0.382 0.171 0.103 T T T T T . -0.770 0.030 0.362 N N -1.426 0.107 -1.465 0.122 0.001 0.615 0.634 0.609 0.655 . 2.110 -0.486 -0.186 -0.611 0.366 0.000 0.000 0.072 784 . . . . ZNF780B 113 0 202 14 0.0648148148148148 TRUE TRUE ENSG00000120500.18 . BCM GRCh38.p13 chrX 70277405 70277405 + G G A Missense_Mutation SNP ENST00000307959.9 exon9 c.G485A p.R162Q exonic ENSG00000120500.18 . nonsynonymous SNV ENSG00000120500.18:ENST00000307959.9:exon9:c.G485A:p.R162Q Xq13.1 C3L-03628 3.658e-05 0.0004 0 0 0 0 0 0 rs371232872 4.19 T T P B N N M T D 0.317 T T T 0.068 . 0.361 0.088 T T T T T D 1.530 15.930 0.997 D . . . . . 0.004 . . . . . 4.690 2.880 3.008 0.171 0.676 1.000 0.997 0.986 44 Arrestin-like,_N-terminal . . . ARR3 161 0 216 20 0.0847457627118644 TRUE NA ENSG00000165349.12 . BCM GRCh38.p13 chrX 70927996 70927996 + C C T Missense_Mutation SNP ENST00000374299.8 exon6 c.G845A p.R282H exonic ENSG00000165349.12 . nonsynonymous SNV ENSG00000165349.12:ENST00000374299.8:exon6:c.G845A:p.R282H Xq13.1 C3L-03628 0.0002 0.0016 0.0002 0 0 2.209e-05 0.0017 0 rs143349209 8.19 T T B B N N M D D 0.232 D D D 0.386 . 0.813 0.522 T D T T T T 1.055 12.300 0.956 D . . . . . 0.116 . . . . . 5.250 0.467 1.047 -0.712 -0.174 0.398 0.952 0.810 512 . . . ID=COSV53228854;OCCURENCE=1(large_intestine),1(lung) SLC7A3 276 0 351 30 0.078740157480315 TRUE TRUE ENSG00000198910.14 . BCM GRCh38.p13 chrX 153866709 153866709 + C C T Missense_Mutation SNP ENST00000370060.7 exon19 c.G2371A p.V791I exonic ENSG00000198910.14 . nonsynonymous SNV ENSG00000198910.14:ENST00000370060.7:exon19:c.G2371A:p.V791I Xq28 C3L-03628 . . . . . . . . rs200605257 1.19 T T B B N D N T N 0.074 T T T 0.020 0.470 0.307 0.467 T T T T T T 1.453 15.430 0.948 N . . . . . 0.253 . . . . . 5.280 2.320 0.223 0.129 -0.207 0.005 0.989 0.985 155 Fibronectin_type_III . . ID=COSV62828942;OCCURENCE=1(breast),1(lung) L1CAM 227 0 305 29 0.0868263473053892 TRUE TRUE ENSG00000184216.14 . BCM GRCh38.p13 chrX 154014070 154014070 + C C T Missense_Mutation SNP ENST00000369980.8 exon11 c.G1511A p.R504Q exonic ENSG00000184216.14 . nonsynonymous SNV ENSG00000184216.14:ENST00000369980.8:exon11:c.G1511A:p.R504Q Xq28 C3L-03628 . . . . . . . . . 13.19 D D D D D D L T D 0.275 D D D 0.234 0.406 0.851 1.483 T T T T D D 3.385 24.400 0.999 D . . . . . 1.000 . . . . . 5.540 4.670 3.325 1.026 0.599 1.000 1.000 0.999 76 Protein_kinase_domain . . . IRAK1 223 0 341 29 0.0783783783783784 TRUE TRUE ENSG00000157870.17 . BCM GRCh38.p13 chr1 2588600 2588600 + C C T Silent SNP ENST00000419916.8 exon5 c.C435T p.S145S exonic ENSG00000157870.17 . synonymous SNV ENSG00000157870.17:ENST00000419916.8:exon5:c.C435T:p.S145S 1p36.32 C3L-03628 0.0002 0 0 0 0 3.005e-05 0 0.0011 rs536749188 1.4 . . . . . D . . . . . . . . . . . . . . . . T 0.149 2.565 0.699 N N -0.710 0.797 -0.798 0.760 1.000 0.706 0.710 0.723 0.714 . 4.180 -3.230 -0.984 0.102 -0.226 0.244 0.998 0.974 834 . . . . PRXL2B 143 1 229 16 0.0653061224489796 TRUE NA ENSG00000170396.8 . BCM GRCh38.p13 chr2 184598980 184598980 + C C T Silent SNP ENST00000302277.7 exon1 c.C21T p.V7V exonic ENSG00000170396.8 . synonymous SNV ENSG00000170396.8:ENST00000302277.7:exon1:c.C21T:p.V7V 2q32.1 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56463713;OCCURENCE=1(lung) ZNF804A 239 0 319 26 0.0753623188405797 TRUE TRUE ENSG00000060971.18 . BCM GRCh38.p13 chr3 38133954 38133954 + C C T Silent SNP ENST00000333167.13 exon3 c.G321A p.L107L exonic ENSG00000060971.18 . synonymous SNV ENSG00000060971.18:ENST00000333167.13:exon3:c.G321A:p.L107L 3p22.2 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACAA1 165 0 264 20 0.0704225352112676 TRUE TRUE ENSG00000197584.12 . BCM GRCh38.p13 chr3 178828187 178828187 + C C T Silent SNP ENST00000452583.6 exon4 c.C237T p.T79T exonic ENSG00000197584.12;ENSG00000275163.1 . synonymous SNV ENSG00000197584.12:ENST00000452583.6:exon4:c.C237T:p.T79T,ENSG00000275163.1:ENST00000614557.1:exon4:c.C237T:p.T79T 3q26.32 C3L-03628 8.318e-06 0 0 0 0 1.505e-05 0 0 rs767171556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNMB2 121 0 168 12 0.0666666666666667 TRUE NA ENSG00000184985.16 . BCM GRCh38.p13 chr4 7676178 7676178 + C C T Silent SNP ENST00000507866.6 exon9 c.C1290T p.D430D exonic ENSG00000184985.16 . synonymous SNV ENSG00000184985.16:ENST00000507866.6:exon9:c.C1290T:p.D430D 4p16.1 C3L-03628 0 0 0 0 0 0 0 0 rs773780208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORCS2 253 0 342 25 0.0681198910081744 TRUE NA ENSG00000221818.9 . BCM GRCh38.p13 chr8 25844615 25844615 + C C T Silent SNP ENST00000520164.6 exon16 c.G1722A p.P574P exonic ENSG00000221818.9 . synonymous SNV ENSG00000221818.9:ENST00000520164.6:exon16:c.G1722A:p.P574P 8p21.2 C3L-03628 8.286e-06 0 0 0 0 1.499e-05 0 0 rs773515338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68780534;OCCURENCE=1(large_intestine) EBF2 205 0 302 17 0.0532915360501567 TRUE NA ENSG00000154146.13 . BCM GRCh38.p13 chr11 124745508 124745508 + C C T Silent SNP ENST00000284292.11 exon2 c.C21T p.N7N exonic ENSG00000154146.13 . synonymous SNV ENSG00000154146.13:ENST00000284292.11:exon2:c.C21T:p.N7N 11q24.2 C3L-03628 2.693e-05 0 0 0.0002 0 0 0 7.38e-05 rs559809272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52518053;OCCURENCE=1(large_intestine) NRGN 54 0 84 19 0.184466019417476 TRUE TRUE ENSG00000109956.13 . BCM GRCh38.p13 chr11 134383824 134383824 + G G A Silent SNP ENST00000312527.9 exon3 c.C477T p.R159R exonic ENSG00000109956.13 . synonymous SNV ENSG00000109956.13:ENST00000312527.9:exon3:c.C477T:p.R159R 11q25 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56998007;OCCURENCE=1(large_intestine),1(stomach),1(lung) B3GAT1 297 0 415 29 0.0653153153153153 TRUE TRUE ENSG00000170486.11 . BCM GRCh38.p13 chr12 52601126 52601126 + C C T Silent SNP ENST00000293745.7 exon1 c.G327A p.P109P exonic ENSG00000170486.11 . synonymous SNV ENSG00000170486.11:ENST00000293745.7:exon1:c.G327A:p.P109P 12q13.13 C3L-03628 1.649e-05 0 0 0 0.0002 1.5e-05 0 0 rs777799663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99537223;OCCURENCE=1(large_intestine) KRT72 268 0 306 24 0.0727272727272727 TRUE NA ENSG00000111249.14 . BCM GRCh38.p13 chr12 111298553 111298553 + C C T Silent SNP ENST00000261726.11 exon9 c.C717T p.V239V exonic ENSG00000111249.14 . synonymous SNV ENSG00000111249.14:ENST00000261726.11:exon9:c.C717T:p.V239V 12q24.11 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUX2 234 0 363 22 0.0571428571428571 TRUE TRUE ENSG00000110917.8 . BCM GRCh38.p13 chr12 120687479 120687479 + C C T Silent SNP ENST00000228506.8 exon1 c.C183T p.D61D exonic ENSG00000110917.8 . synonymous SNV ENSG00000110917.8:ENST00000228506.8:exon1:c.C183T:p.D61D 12q24.31 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MLEC 71 0 93 6 0.0606060606060606 TRUE NA ENSG00000168904.15 . BCM GRCh38.p13 chr15 99352445 99352445 + G G C Silent SNP ENST00000301981.8 exon7 c.G669C p.L223L exonic ENSG00000168904.15 . synonymous SNV ENSG00000168904.15:ENST00000301981.8:exon7:c.G669C:p.L223L 15q26.3 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC28 159 0 250 14 0.053030303030303 TRUE NA ENSG00000007314.12 . BCM GRCh38.p13 chr17 63951691 63951691 + G G A Silent SNP ENST00000435607.3 exon14 c.C2586T p.D862D exonic ENSG00000007314.12 . synonymous SNV ENSG00000007314.12:ENST00000435607.3:exon14:c.C2586T:p.D862D 17q23.3 C3L-03628 9.619e-05 0 0 0.0015 0 0 0 0 rs756161095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101438331;OCCURENCE=1(stomach) SCN4A 238 0 386 29 0.0698795180722892 TRUE NA ENSG00000132016.11 . BCM GRCh38.p13 chr19 13889839 13889839 + G G A Silent SNP ENST00000586783.5 exon5 c.C1017T p.I339I exonic ENSG00000132016.11 . synonymous SNV ENSG00000132016.11:ENST00000586783.5:exon5:c.C1017T:p.I339I 19p13.12 C3L-03628 2.543e-05 0 0 0 0 3.108e-05 0 6.062e-05 rs367695544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf57 283 0 397 23 0.0547619047619048 TRUE NA ENSG00000068438.15 . BCM GRCh38.p13 chrX 48478513 48478513 + G G A Silent SNP ENST00000348411.3 exon3 c.G186A p.K62K exonic ENSG00000068438.15 . synonymous SNV ENSG00000068438.15:ENST00000348411.3:exon3:c.G186A:p.K62K Xp11.23 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FTSJ1 423 0 579 48 0.076555023923445 TRUE TRUE ENSG00000162980.17 . BCM GRCh38.p13 chr2 151810559 151810559 + C C A Intron SNP NA NA NA NA intronic ENSG00000162980.17 . . . 2q23.3 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARL5A 54 0 84 6 0.0666666666666667 TRUE NA ENSG00000124224.17 . BCM GRCh38.p13 chr20 58239398 58239398 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000124224.17 . . . 20q13.32 C3L-03628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP4R1L 86 0 135 8 0.0559440559440559 TRUE NA ENSG00000198758.10 . BCM GRCh38.p13 chr1 109759287 109759287 + G G A Missense_Mutation SNP ENST00000361965.8 exon5 c.C356T p.P119L exonic ENSG00000198758.10 . nonsynonymous SNV ENSG00000198758.10:ENST00000361965.8:exon5:c.C356T:p.P119L 1p13.3 C3N-03780 1.649e-05 0 0 0 0 1.501e-05 0 6.059e-05 rs757406657 2.20 D T B B N N L T D 0.214 T T T 0.021 0.350 0.391 0.088 T T T T T T 1.334 14.630 0.577 N N -1.007 0.397 -0.978 0.516 0.990 0.428 0.547 0.547 0.613 . 5.240 2.290 0.730 -0.156 -0.135 0.040 0.025 0.006 567 Tensin/EPS8_phosphotyrosine-binding_domain;Epidermal_growth_factor_receptor_kinase_substrate,_phosphotyrosine-binding_domain . . . EPS8L3 221 0 333 23 0.0646067415730337 TRUE NA ENSG00000135835.12 . BCM GRCh38.p13 chr1 180935489 180935489 + C C T Missense_Mutation SNP ENST00000367588.9 exon5 c.C1580T p.P527L exonic ENSG00000135835.12 . nonsynonymous SNV ENSG00000135835.12:ENST00000367588.9:exon5:c.C1580T:p.P527L 1q25.3 C3N-03780 0.0008 0 0 0 0 0.0013 0 0 rs371418964 2.20 T D B B N N N T D 0.123 T T T 0.011 . 0.055 0.216 T T T T T T 0.597 7.480 0.966 N N -0.952 0.458 -1.024 0.460 1.000 0.616 0.618 0.535 0.605 . 4.620 -0.154 -0.489 0.019 0.452 0.000 0.000 0.001 865 . . . ID=COSV62550999;OCCURENCE=1(ovary) KIAA1614 21 0 36 8 0.181818181818182 TRUE TRUE ENSG00000168702.18 . BCM GRCh38.p13 chr2 140322008 140322008 + C C T Missense_Mutation SNP ENST00000389484.8 exon82 c.G12595A p.G4199R exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon82:c.G12595A:p.G4199R 2q22.1 C3N-03780 . . . . . . . . rs865839359 19.20 D D D D D D M D D 0.958 D D D 0.885 0.669 0.885 0.785 T D D D D D 4.087 27.600 0.999 D D 0.910 11.308 0.847 11.654 1.000 0.487 0.574 0.574 0.564 . 5.190 5.190 7.389 1.026 0.599 1.000 1.000 0.998 940 EGF-like_domain . . ID=COSV67275984;OCCURENCE=1(skin) LRP1B 235 1 351 34 0.0883116883116883 TRUE TRUE ENSG00000123607.15 . BCM GRCh38.p13 chr2 165913617 165913617 + C C T Missense_Mutation SNP ENST00000243344.8 exon16 c.G2168A p.R723Q exonic ENSG00000123607.15 . nonsynonymous SNV ENSG00000123607.15:ENST00000243344.8:exon16:c.G2168A:p.R723Q 2q24.3 C3N-03780 7.483e-05 0 0.0007 0 0 0 0 6.091e-05 rs151309609 2.20 T T B B D N N T N 0.069 T T T 0.095 . 0.146 0.034 T T T T T T 2.187 20.800 0.839 D N -1.177 0.243 -1.039 0.441 0.418 0.651 0.709 0.651 0.684 . 5.230 0.740 3.180 -0.258 -1.156 1.000 0.072 0.039 502 Tetratricopeptide_repeat-containing_domain . . . TTC21B 218 0 336 25 0.0692520775623269 TRUE NA ENSG00000138398.16 . BCM GRCh38.p13 chr2 169637078 169637078 + G G A Missense_Mutation SNP ENST00000260970.8 exon14 c.G1820A p.R607Q exonic ENSG00000138398.16 . nonsynonymous SNV ENSG00000138398.16:ENST00000260970.8:exon14:c.G1820A:p.R607Q 2q31.1 C3N-03780 5.142e-05 0 0 0 0 0 0 0.0004 rs748608521 5.20 D T B B N D L T N 0.272 T T T 0.034 0.190 0.192 0.040 T T T T T D 3.240 24.000 0.999 D D -0.305 1.601 -0.130 1.964 0.968 0.707 0.725 0.725 0.714 . 5.510 3.330 2.391 1.176 0.618 0.995 1.000 0.996 659 . . . ID=COSV53646808;OCCURENCE=1(pancreas) PPIG 213 0 319 31 0.0885714285714286 TRUE TRUE ENSG00000047315.17 . BCM GRCh38.p13 chr4 57023381 57023381 + C C T Missense_Mutation SNP ENST00000314595.6 exon19 c.C2567T p.P856L exonic ENSG00000047315.17 . nonsynonymous SNV ENSG00000047315.17:ENST00000314595.6:exon19:c.C2567T:p.P856L 4q12 C3N-03780 . . . . . . . . . 19.20 D D D D D D M T D 0.767 D D D 0.699 0.681 0.781 2.568 D D D D D D 4.253 29.200 0.999 D D 0.917 11.493 0.880 12.909 1.000 0.707 0.725 0.725 0.617 . 5.520 5.520 7.726 1.026 0.599 1.000 0.994 0.998 909 DNA-directed_RNA_polymerase,_subunit_2,_hybrid-binding_domain . . . POLR2B 189 0 277 33 0.106451612903226 TRUE TRUE ENSG00000067248.10 . BCM GRCh38.p13 chr5 55270670 55270670 + C C A Missense_Mutation SNP ENST00000251636.10 exon19 c.G2901T p.E967D exonic ENSG00000067248.10 . nonsynonymous SNV ENSG00000067248.10:ENST00000251636.10:exon19:c.G2901T:p.E967D 5q11.2 C3N-03780 . . . . . . . . . 9.20 T D D D D D L T N 0.796 T T T 0.187 0.389 0.488 0.813 D T T T D D 3.238 24.000 0.997 D N 0.269 3.622 0.236 3.362 0.001 0.707 0.654 0.725 0.714 . 5.440 2.550 1.891 1.026 0.549 1.000 0.179 0.826 480 Helicase,_C-terminal . . . DHX29 260 0 393 32 0.0752941176470588 TRUE TRUE ENSG00000204701.2 . BCM GRCh38.p13 chr6 29112314 29112314 + C C T Missense_Mutation SNP ENST00000641960.1 exon5 c.C424T p.R142C exonic ENSG00000204701.2 . nonsynonymous SNV ENSG00000204701.2:ENST00000641960.1:exon5:c.C424T:p.R142C 6p22.1 C3N-03780 8.331e-06 0 0 0 0 1.509e-05 0 0 rs762835534 1.15 T T . . . N . T D 0.144 T T T 0.123 0.407 0.138 0.158 T . T T T T 1.713 17.110 0.944 N N -0.778 0.688 -0.834 0.710 0.007 0.556 0.616 0.685 0.564 . 2.760 0.484 -3.183 -0.798 0.507 0.000 0.004 0.073 754 GPCR,_rhodopsin-like,_7TM . . ID=COSV65848968;OCCURENCE=2(skin) OR2J3 197 0 279 42 0.130841121495327 NA TRUE ENSG00000152822.14 . BCM GRCh38.p13 chr6 146399045 146399045 + C C T Missense_Mutation SNP ENST00000282753.6 exon7 c.C2006T p.A669V exonic ENSG00000152822.14 . nonsynonymous SNV ENSG00000152822.14:ENST00000282753.6:exon7:c.C2006T:p.A669V 6q24.3 C3N-03780 . . . . . . . . . 17.20 D D D P D D L D D 0.776 D D D 0.826 0.680 0.919 1.689 T D D D D D 3.535 24.800 0.999 D D 0.565 5.585 0.622 6.510 0.975 0.487 0.574 0.547 0.564 . 5.510 5.510 6.170 1.026 0.549 1.000 0.999 0.991 287 GPCR_family_3,_C-terminal . . ID=COSV51185332;OCCURENCE=1(large_intestine) GRM1 117 0 174 12 0.0645161290322581 TRUE TRUE ENSG00000136205.17 . BCM GRCh38.p13 chr7 47400416 47400416 + G G C Missense_Mutation SNP ENST00000311160.14 exon15 c.C896G p.S299C exonic ENSG00000136205.17 . nonsynonymous SNV ENSG00000136205.17:ENST00000311160.14:exon15:c.C896G:p.S299C 7p12.3 C3N-03780 . . . . . . . . . 15.20 D D D D N D M T D 0.647 T T D 0.449 0.804 0.552 . T D D D D D 4.180 28.500 0.993 D D 0.960 12.707 0.899 13.698 1.000 0.732 0.688 0.710 0.728 . 5.290 5.290 9.303 1.176 0.676 1.000 0.953 0.978 906 Tensin_phosphatase,_C2_domain . . . TNS3 164 0 299 25 0.0771604938271605 TRUE TRUE ENSG00000164692.18 . BCM GRCh38.p13 chr7 94409409 94409409 + G G A Missense_Mutation SNP ENST00000297268.11 exon17 c.G880A p.V294I exonic ENSG00000164692.18 . nonsynonymous SNV ENSG00000164692.18:ENST00000297268.11:exon17:c.G880A:p.V294I 7q21.3 C3N-03780 3.295e-05 0 8.639e-05 0.0001 0 0 0 0.0001 rs145693444 8.20 T T P B D D L D N 0.217 D D T 0.385 . 0.741 0.948 T T T T T D 2.155 20.500 0.998 D D 0.165 3.152 0.340 3.962 1.000 0.707 0.574 0.725 0.492 . 5.730 5.730 4.071 1.176 0.676 1.000 0.821 0.412 691 . . . ID=COSV51967036;OCCURENCE=1(large_intestine),1(central_nervous_system) COL1A2 551 0 681 61 0.0822102425876011 TRUE TRUE ENSG00000136960.12 . BCM GRCh38.p13 chr8 119619298 119619298 + G G A Missense_Mutation SNP ENST00000075322.10 exon5 c.C425T p.S142L exonic ENSG00000136960.12 . nonsynonymous SNV ENSG00000136960.12:ENST00000075322.10:exon5:c.C425T:p.S142L 8q24.12 C3N-03780 0.0001 9.615e-05 0.0010 0 0 1.501e-05 0 6.062e-05 rs759807131 8.20 D D B B N D N T D 0.506 T T D 0.124 . 0.603 0.226 T T T T T D 3.376 24.300 0.998 D D -0.064 2.292 0.102 2.742 1.000 0.615 0.624 0.659 0.621 . 5.490 5.490 6.338 1.176 0.618 1.000 0.846 0.878 910 Somatomedin_B_domain . . . ENPP2 148 0 274 19 0.0648464163822526 TRUE NA ENSG00000066827.16 . BCM GRCh38.p13 chr8 134509620 134509620 + T T C Missense_Mutation SNP ENST00000377838.8 exon15 c.A3491G p.Q1164R exonic ENSG00000066827.16 . nonsynonymous SNV ENSG00000066827.16:ENST00000377838.8:exon15:c.A3491G:p.Q1164R 8q24.22 C3N-03780 . . . . . . . . rs750068172 11.20 D D D D D D L T D 0.640 T T T 0.225 0.279 0.455 0.917 T T D T D T 4.473 32 0.998 D D 0.324 3.904 0.359 4.079 1.000 0.672 0.702 0.653 0.621 . 5.920 5.920 6.085 1.138 0.665 1.000 0.565 0.717 964 . . . . ZFAT 247 0 370 58 0.135514018691589 TRUE NA ENSG00000165124.18 . BCM GRCh38.p13 chr9 110407081 110407081 + G G T Missense_Mutation SNP ENST00000374469.6 exon38 c.C8519A p.A2840D exonic ENSG00000165124.18 . nonsynonymous SNV ENSG00000165124.18:ENST00000374469.6:exon38:c.C8519A:p.A2840D 9q31.3 C3N-03780 . . . . . . . . . 0.17 . T B B N N L . . 0.176 T T T 0.034 0.458 0.043 0.142 T T T T T T 1.226 13.840 0.733 N N -0.309 1.591 -0.310 1.544 0.001 0.554 0.563 0.618 0.564 . 5.520 3.370 1.708 1.106 0.507 0.243 0.820 0.755 969 Sushi/SCR/CCP_domain . . . SVEP1 261 1 374 44 0.105263157894737 TRUE NA ENSG00000107951.14 . BCM GRCh38.p13 chr10 30336951 30336951 + C C A Missense_Mutation SNP ENST00000263063.8 exon4 c.G632T p.C211F exonic ENSG00000107951.14 . nonsynonymous SNV ENSG00000107951.14:ENST00000263063.8:exon4:c.G632T:p.C211F 10p11.23 C3N-03780 . . . . . . . . . 12.20 D D B B D D M T D 0.933 T T T 0.239 0.429 0.419 1.409 T T D D D D 3.167 23.800 0.982 D D 0.244 3.502 0.282 3.613 0.302 0.732 0.725 0.744 0.714 . 5.640 4.720 4.527 1.026 0.594 1.000 0.992 0.967 917 . . . . MTPAP 535 0 682 43 0.0593103448275862 TRUE TRUE ENSG00000187122.17 . BCM GRCh38.p13 chr10 97013756 97013756 + G G A Missense_Mutation SNP ENST00000266058.9 exon30 c.C3188T p.T1063I exonic ENSG00000187122.17 . nonsynonymous SNV ENSG00000187122.17:ENST00000266058.9:exon30:c.C3188T:p.T1063I 10q24.1 C3N-03780 . . . . . . . . rs1041420300 9.20 T T P P D D L D N 0.489 D D D 0.574 0.479 0.389 1.083 T T T T D T 2.910 23.200 0.997 D D 0.332 3.951 0.327 3.878 1.000 0.554 0.547 0.602 0.621 . 4.280 4.280 5.048 1.176 0.676 1.000 0.786 0.228 714 EGF-like_domain;EGF-like_calcium-binding_domain . . . SLIT1 191 0 312 31 0.0903790087463557 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-03780 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 301 0 333 45 0.119047619047619 TRUE TRUE ENSG00000165972.13 . BCM GRCh38.p13 chr12 95878215 95878215 + G G A Missense_Mutation SNP ENST00000344280.8 exon13 c.C1274T p.A425V exonic ENSG00000165972.13 . nonsynonymous SNV ENSG00000165972.13:ENST00000344280.8:exon13:c.C1274T:p.A425V 12q23.1 C3N-03780 4.154e-05 0 0.0003 0 0 3.021e-05 0 0 rs771269053 0.20 T T B B N N L T N 0.054 T T T 0.023 0.171 0.120 0.055 T T T T T T 1.298 14.370 0.850 N N -0.432 1.314 -0.327 1.510 0.548 0.554 0.588 0.574 0.613 . 5.820 3.570 1.102 1.176 0.676 0.105 0.722 0.152 590 . . . . CCDC38 242 0 314 31 0.0898550724637681 TRUE NA ENSG00000100503.24 . BCM GRCh38.p13 chr14 50770906 50770906 + G G A Missense_Mutation SNP ENST00000382041.7 exon11 c.C1205T p.S402L exonic ENSG00000100503.24 . nonsynonymous SNV ENSG00000100503.24:ENST00000382041.7:exon11:c.C1205T:p.S402L 14q22.1 C3N-03780 1.661e-05 0 0 0 0 1.506e-05 0 6.114e-05 rs768423014 12.20 D D D D D D M T D 0.454 T T T 0.149 0.274 0.451 0.193 T T T T D D 3.991 26.900 0.999 D D 0.709 7.254 0.681 7.412 1.000 0.707 0.702 0.725 0.714 . 5.510 5.510 5.399 1.176 0.676 1.000 0.940 0.901 433 . . . ID=COSV55396464;OCCURENCE=1(large_intestine) NIN 225 0 328 21 0.0601719197707736 TRUE TRUE ENSG00000179008.9 . BCM GRCh38.p13 chr14 60437031 60437031 + C C A Missense_Mutation SNP ENST00000321731.8 exon18 c.G1578T p.K526N exonic ENSG00000179008.9 . nonsynonymous SNV ENSG00000179008.9:ENST00000321731.8:exon18:c.G1578T:p.K526N 14q23.1 C3N-03780 . . . . . . . . . 8.15 D D . . D D . T D 0.551 T T D 0.137 0.182 0.542 0.112 . . T T D T 2.778 23.000 0.997 D N 0.129 3.001 0.044 2.516 0.000 0.487 0.574 0.547 0.564 . 5.170 2.760 0.885 -0.170 -0.839 0.995 0.978 0.959 354 . . . . C14orf39 126 0 148 11 0.0691823899371069 TRUE TRUE ENSG00000154118.13 . BCM GRCh38.p13 chr16 87690426 87690426 + G G A Missense_Mutation SNP ENST00000284262.3 exon4 c.G2066A p.R689Q exonic ENSG00000154118.13 . nonsynonymous SNV ENSG00000154118.13:ENST00000284262.3:exon4:c.G2066A:p.R689Q 16q24.2 C3N-03780 . . . . . . . . . 9.20 D T D P D D M T N 0.493 T T T 0.196 0.290 0.511 0.625 T T T T D D 3.776 25.700 0.999 D D 0.566 5.591 0.564 5.799 1.000 0.635 0.514 0.644 0.605 . 4.300 4.300 9.713 1.129 0.658 1.000 0.477 0.949 952 . . . . JPH3 48 0 62 5 0.0746268656716418 TRUE 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-03780 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 371 1 401 30 0.0696055684454756 TRUE TRUE ENSG00000141376.22 . BCM GRCh38.p13 chr17 60684022 60684022 + G G A Missense_Mutation SNP ENST00000390652.9 exon3 c.G124A p.D42N exonic ENSG00000141376.22 . nonsynonymous SNV ENSG00000141376.22:ENST00000390652.9:exon3:c.G124A:p.D42N 17q23.2 C3N-03780 . . . . . . . . . 13.20 D D D D D D M T D 0.648 T T T 0.225 0.362 0.581 1.154 D T T T D D 4.217 28.800 0.999 D D 0.767 8.169 0.791 9.872 1.000 0.707 0.670 0.659 0.714 . 6.080 6.080 7.140 1.176 0.676 1.000 1.000 0.998 459 . . . . BCAS3 121 0 204 20 0.0892857142857143 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51078380 51078380 + G G T Missense_Mutation SNP ENST00000342988.8 exon12 c.G1572T p.W524C exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon12:c.G1572T:p.W524C 18q21.2 C3N-03780 . . . . . . . . . 20.20 D D D D D D H D D 0.978 D D D 0.933 0.933 0.993 3.877 D D D D D D 4.570 32 0.990 D D 1.104 17.701 1.054 22.670 1.000 0.707 0.725 0.725 0.714 . 6.080 6.080 9.830 1.176 0.676 1.000 1.000 0.998 860 SMAD_domain,_Dwarfin-type . . ID=COSV61686227;OCCURENCE=4(large_intestine),3(pancreas) SMAD4 317 0 435 37 0.0783898305084746 TRUE TRUE ENSG00000130589.16 . BCM GRCh38.p13 chr20 63561610 63561610 + T T C Missense_Mutation SNP ENST00000467148.1 exon12 c.A6827G p.Q2276R exonic ENSG00000130589.16 . nonsynonymous SNV ENSG00000130589.16:ENST00000467148.1:exon12:c.A6827G:p.Q2276R 20q13.33 C3N-03780 . . . . . . . . . 2.20 T T B B N N L D N 0.083 T T D 0.101 0.278 0.237 0.203 T T T T T T 0.338 4.723 0.626 N N -1.415 0.111 -1.435 0.135 0.079 0.660 0.694 0.723 0.636 . 4.490 -1.200 -0.802 -0.278 -0.242 0.000 0.001 0.024 . . . . . HELZ2 65 0 103 9 0.0803571428571429 TRUE TRUE ENSG00000100285.10 . BCM GRCh38.p13 chr22 29480902 29480902 + G G A Missense_Mutation SNP ENST00000310624.7 exon1 c.G640A p.V214M exonic ENSG00000100285.10 . nonsynonymous SNV ENSG00000100285.10:ENST00000310624.7:exon1:c.G640A:p.V214M 22q12.2 C3N-03780 . . . . . . . . . 6.15 D T . . N N . D N 0.076 T D D 0.163 0.482 0.796 1.092 D . T T T . 2.131 20.300 0.957 D N -0.632 0.931 -0.620 1.016 1.000 0.598 0.479 0.504 0.639 . 4.080 3.040 1.486 1.082 0.520 0.005 0.997 0.486 677 . . . . NEFH 210 0 280 31 0.0996784565916399 TRUE NA ENSG00000165694.9 . BCM GRCh38.p13 chrX 132078665 132078665 + T T G Missense_Mutation SNP ENST00000298542.8 exon12 c.A1352C p.K451T exonic ENSG00000165694.9 . nonsynonymous SNV ENSG00000165694.9:ENST00000298542.8:exon12:c.A1352C:p.K451T Xq26.2 C3N-03780 . . . . . . . . . 6.19 D T P P N N M D N 0.106 T D D 0.282 0.379 0.820 0.291 T T T T T T 1.529 15.920 0.995 D . . . . . 0.990 . . . . . 5.760 0.636 0.753 1.138 0.665 0.990 0.873 0.866 276 . . . . FRMD7 150 0 225 16 0.0663900414937759 TRUE TRUE ENSG00000067842.17 . BCM GRCh38.p13 chrX 153536428 153536428 + C C T Missense_Mutation SNP ENST00000263519.4 exon1 c.C181T p.R61W exonic ENSG00000067842.17 . nonsynonymous SNV ENSG00000067842.17:ENST00000263519.4:exon1:c.C181T:p.R61W Xq28 C3N-03780 . . . . . . . . rs895866699 11.19 D D D P D N M T D 0.325 D D D 0.501 0.446 0.898 1.409 T T T T D D 1.831 17.960 0.997 N . . . . . 1.000 . . . . . 5.790 -4.150 0.327 -0.163 -0.140 0.008 0.974 0.914 116 Cation-transporting_P-type_ATPase,_N-terminal . . . ATP2B3 289 1 356 33 0.0848329048843188 TRUE NA ENSG00000169231.13 . BCM GRCh38.p13 chr1 155197660 155197660 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000169231.13 ENST00000368378.7:exon20:c.2303-1G>C . . 1q22 C3N-03780 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.135 33 0.994 D . 1.115 18.193 0.943 15.742 1.000 0.361 0.346 0.151 0.221 0.989 4.740 4.740 7.857 1.026 0.549 1.000 0.947 0.925 69 . . . . THBS3 72 1 102 12 0.105263157894737 TRUE NA ENSG00000284770.2 . BCM GRCh38.p13 chr1 235434281 235434281 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000284770.2;ENSG00000285053.1 ENST00000642610.2:exon8:c.737+1G>C;ENST00000645655.1:exon11:c.737+1G>C . . 1q42.3 C3N-03780 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.258 33 0.991 D . 0.969 12.973 0.781 9.575 1.000 0.295 0.304 0.217 0.196 0.973 5.550 5.550 6.588 1.130 0.676 1.000 0.984 0.390 356 . . . . TBCE 352 0 470 25 0.0505050505050505 NA TRUE ENSG00000169994.18 . BCM GRCh38.p13 chr2 127609593 127609593 + C C T Silent SNP ENST00000428314.5 exon23 c.C2902T p.L968L exonic ENSG00000169994.18 . synonymous SNV ENSG00000169994.18:ENST00000428314.5:exon23:c.C2902T:p.L968L 2q14.3 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO7B 416 0 507 47 0.0848375451263538 TRUE TRUE ENSG00000128714.6 . BCM GRCh38.p13 chr2 176093028 176093028 + G G A Silent SNP ENST00000392539.4 exon1 c.G138A p.A46A exonic ENSG00000128714.6 . synonymous SNV ENSG00000128714.6:ENST00000392539.4:exon1:c.G138A:p.A46A 2q31.1 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXD13 94 0 190 12 0.0594059405940594 TRUE TRUE ENSG00000055955.17 . BCM GRCh38.p13 chr3 52825976 52825976 + T T C Silent SNP ENST00000266041.9 exon6 c.A669G p.Q223Q exonic ENSG00000055955.17 . synonymous SNV ENSG00000055955.17:ENST00000266041.9:exon6:c.A669G:p.Q223Q 3p21.1 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITIH4 137 0 231 17 0.0685483870967742 TRUE TRUE ENSG00000150625.16 . BCM GRCh38.p13 chr4 175701715 175701715 + C C T Silent SNP ENST00000280187.11 exon3 c.G90A p.L30L exonic ENSG00000150625.16 . synonymous SNV ENSG00000150625.16:ENST00000280187.11:exon3:c.G90A:p.L30L 4q34.2 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54548561;OCCURENCE=1(large_intestine) GPM6A 229 0 322 18 0.0529411764705882 TRUE TRUE ENSG00000113763.12 . BCM GRCh38.p13 chr5 176868661 176868661 + C C T Silent SNP ENST00000329542.9 exon4 c.C537T p.A179A exonic ENSG00000113763.12 . synonymous SNV ENSG00000113763.12:ENST00000329542.9:exon4:c.C537T:p.A179A 5q35.2 C3N-03780 2.697e-05 0 0 0 0 4.865e-05 0 0 rs373056438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56169754;OCCURENCE=1(large_intestine) UNC5A 98 0 180 12 0.0625 TRUE TRUE ENSG00000104517.13 . BCM GRCh38.p13 chr8 102304138 102304138 + T T C Silent SNP ENST00000520539.6 exon22 c.A2859G p.A953A exonic ENSG00000104517.13 . synonymous SNV ENSG00000104517.13:ENST00000520539.6:exon22:c.A2859G:p.A953A 8q22.3 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBR5 157 0 260 37 0.124579124579125 TRUE TRUE ENSG00000165806.21 . BCM GRCh38.p13 chr10 113725525 113725525 + C C G Silent SNP ENST00000369318.8 exon5 c.C540G p.L180L exonic ENSG00000165806.21 . synonymous SNV ENSG00000165806.21:ENST00000369318.8:exon5:c.C540G:p.L180L 10q25.3 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CASP7 63 0 78 5 0.0602409638554217 NA TRUE ENSG00000197790.1 . BCM GRCh38.p13 chr11 4545268 4545268 + C C T Silent SNP ENST00000360213.1 exon1 c.C78T p.H26H exonic ENSG00000197790.1 . synonymous SNV ENSG00000197790.1:ENST00000360213.1:exon1:c.C78T:p.H26H 11p15.4 C3N-03780 8.262e-06 0 0 0 0 1.502e-05 0 0 rs559376682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64171853;OCCURENCE=2(lung),2(upper_aerodigestive_tract) OR52M1 113 0 218 18 0.076271186440678 NA TRUE ENSG00000121741.16 . BCM GRCh38.p13 chr13 20062940 20062940 + A A G Silent SNP ENST00000610343.4 exon18 c.A3006G p.P1002P exonic ENSG00000121741.16 . synonymous SNV ENSG00000121741.16:ENST00000610343.4:exon18:c.A3006G:p.P1002P 13q12.11 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZMYM2 92 0 140 9 0.0604026845637584 TRUE TRUE ENSG00000254585.5 . BCM GRCh38.p13 chr15 23646978 23646978 + C C T Silent SNP ENST00000650528.1 exon1 c.G765A p.P255P exonic ENSG00000254585.5 . synonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.G765A:p.P255P 15q11.2 C3N-03780 6.34e-05 0 0 0 0 0.0002 0 0 rs760536434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEL2 200 0 329 29 0.0810055865921788 TRUE NA ENSG00000130300.9 . BCM GRCh38.p13 chr19 17377196 17377196 + G G A Silent SNP ENST00000252590.9 exon1 c.C93T p.F31F exonic ENSG00000130300.9 . synonymous SNV ENSG00000130300.9:ENST00000252590.9:exon1:c.C93T:p.F31F 19p13.11 C3N-03780 0.0002 0 0.0010 0.0010 0 0 0 6.056e-05 rs202209497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53083849;OCCURENCE=2(skin) PLVAP 303 0 411 52 0.11231101511879 TRUE TRUE ENSG00000064042.18 . BCM GRCh38.p13 chr4 41632843 41632843 + G G A Intron SNP NA NA NA NA intronic ENSG00000064042.18 . . . 4p13 C3N-03780 . . . . . . . . rs1055359702 2.19 T D B B N N . T N 0.125 T T D 0.025 0.272 0.068 . T T T T T T 0.002 1.348 0.990 N N -0.849 0.587 -0.908 0.609 1.000 0.497 0.563 0.547 0.542 . 5.030 1.120 -0.335 -0.211 -0.186 0.000 0.003 0.006 845 . . . . LIMCH1 339 0 513 45 0.0806451612903226 TRUE NA ENSG00000254469.7 . BCM GRCh38.p13 chr11 71916181 71916181 + G G A 3'Flank SNP NA NA NA NA downstream ENSG00000254469.7 dist=414 . . 11q13.4 C3N-03780 0.0002 0 0 0 0 0 0 0.0003 rs766087889 4.12 D D . . . . . T D . T T . 0.182 0.569 0.504 . . . T T D T 2.433 22.200 0.999 N N 0.042 2.665 0.028 2.458 0.028 0.651 0.654 0.651 0.636 . 5.850 4.940 0.916 0.214 0.676 0.006 0.897 0.832 654 . . . . AP002495.1 314 0 388 34 0.0805687203791469 TRUE NA ENSG00000255087.4 . BCM GRCh38.p13 chr11 127099363 127099363 + T T G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255087.4 . . . 11q24.2 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP001993.1 180 0 297 22 0.0689655172413793 TRUE NA ENSG00000205325.3 . BCM GRCh38.p13 chr17 14780042 14780042 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000205325.3 . . . 17p12 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC005863.1 245 0 319 26 0.0753623188405797 TRUE NA ENSG00000065559.15 . BCM GRCh38.p13 chr17 12095663 12095664 + TT TT AA Unknown MNP ENST00000353533.10 exon4 c.482_483delinsAA p.I161K exonic ENSG00000065559.15 . nonframeshift substitution ENSG00000065559.15:ENST00000353533.10:exon4:c.482_483delinsAA:p.I161K 17p12 C3N-03780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP2K4 162 20 249 20 0.0743494423791822 TRUE TRUE ENSG00000127463.15 . BCM GRCh38.p13 chr1 19240328 19240328 + G G A Missense_Mutation SNP ENST00000477853.6 exon7 c.C755T p.T252M exonic ENSG00000127463.15 . nonsynonymous SNV ENSG00000127463.15:ENST00000477853.6:exon7:c.C755T:p.T252M 1p36.13 C3L-01637 8.24e-06 0 0 0 0 1.499e-05 0 0 rs558157154 5.20 D T D P N D L T N 0.260 T T T 0.115 . 0.620 0.382 T T T T T D 3.526 24.800 0.997 D N 0.455 4.702 0.514 5.291 1.000 0.719 0.723 0.725 0.714 . 5.770 5.770 2.748 1.176 0.676 0.999 0.884 0.979 778 . . . . EMC1 134 0 278 55 0.165165165165165 TRUE NA ENSG00000243710.7 . BCM GRCh38.p13 chr1 43185291 43185291 + G G C Missense_Mutation SNP ENST00000372492.8 exon5 c.G904C p.G302R exonic ENSG00000243710.7 . nonsynonymous SNV ENSG00000243710.7:ENST00000372492.8:exon5:c.G904C:p.G302R 1p34.2 C3L-01637 . . . . . . . . . 14.19 D D D D D D . T D 0.909 T T D 0.512 0.547 0.360 0.708 T T D D D D 4.167 28.300 0.999 D D 0.882 10.591 0.860 12.156 1.000 0.534 0.547 0.686 0.621 . 5.530 5.530 8.695 1.176 0.618 1.000 0.994 0.991 467 . . . . CFAP57 506 0 838 146 0.148373983739837 TRUE TRUE ENSG00000153187.20 . BCM GRCh38.p13 chr1 244863639 244863639 + - NA CCGCCGCCT In_Frame_Ins INS ENST00000640218.2 exon1 c.668_669insAGGCGGCGG p.G223_R224insGGG exonic ENSG00000153187.20 . nonframeshift insertion ENSG00000153187.20:ENST00000640218.2:exon1:c.668_669insAGGCGGCGG:p.G223_R224insGGG 1q44 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HNRNPU NA NA NA NA NA NA NA ENSG00000155657.27 . BCM GRCh38.p13 chr2 178774411 178774411 + C C A Nonsense_Mutation SNP ENST00000591111.5 exon30 c.G6853T p.E2285X exonic ENSG00000155657.27 . stopgain ENSG00000155657.27:ENST00000591111.5:exon30:c.G6853T:p.E2285X 2q31.2 C3L-01637 . . . . . . . . . 4.5 . . . . . A . . . 0.983 . . . . . . . . . D D . . 7.208 37 0.996 D N 1.191 22.918 1.052 22.509 1.000 0.516 0.602 0.574 0.586 . 5.600 5.600 7.905 1.026 0.599 1.000 1.000 0.995 343 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 210 0 426 57 0.118012422360248 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178784339 178784339 + C C T Missense_Mutation SNP ENST00000591111.5 exon16 c.G2506A p.G836S exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon16:c.G2506A:p.G836S 2q31.2 C3L-01637 5.005e-05 0 8.663e-05 0.0001 0 4.563e-05 0 6.061e-05 rs751157908 14.17 D D D D . D . D D 0.709 D D D 0.462 0.315 0.587 0.387 T . T T D D 3.312 24.200 0.977 D D 0.696 7.064 0.722 8.183 1.000 0.497 0.547 0.547 0.542 . 5.520 5.520 7.512 1.026 0.599 1.000 0.999 0.992 363 . . . ID=COSV60007599;OCCURENCE=1(salivary_gland),1(biliary_tract),1(lung) TTN 224 1 467 64 0.120527306967985 TRUE NA ENSG00000144406.19 . BCM GRCh38.p13 chr2 209820375 209820375 + C C T Missense_Mutation SNP ENST00000439458.5 exon13 c.C2027T p.A676V exonic ENSG00000144406.19 . nonsynonymous SNV ENSG00000144406.19:ENST00000439458.5:exon13:c.C2027T:p.A676V 2q34 C3L-01637 4.475e-05 0 0 0 0 0 0 0.0001 rs768146438 7.19 T D P B . N L T N 0.505 T T D 0.426 0.649 0.530 0.912 D T T T D D 1.439 15.340 0.997 D D 0.182 3.224 0.282 3.615 0.996 0.487 0.574 0.547 0.564 . 5.740 5.740 6.044 1.026 0.549 1.000 0.578 0.175 814 . . . . UNC80 128 0 224 40 0.151515151515152 TRUE NA ENSG00000114487.10 . BCM GRCh38.p13 chr3 109118040 109118040 + G G A Missense_Mutation SNP ENST00000232603.10 exon1 c.C20T p.A7V exonic ENSG00000114487.10 . nonsynonymous SNV ENSG00000114487.10:ENST00000232603.10:exon1:c.C20T:p.A7V 3q13.13 C3L-01637 . . . . . . . . . 0.20 T T B B N N N T N 0.126 T T T 0.016 0.292 0.302 0.174 T T T T T T 0.328 4.615 0.967 N N -1.349 0.139 -1.368 0.168 0.012 0.526 0.574 0.616 0.564 . 4.860 -2.210 -0.197 -1.107 -0.127 0.000 0.000 0.001 898 . . . ID=COSV51730439;OCCURENCE=1(large_intestine) MORC1 137 0 342 40 0.104712041884817 TRUE TRUE ENSG00000155890.4 . BCM GRCh38.p13 chr3 140678504 140678504 + A A T Missense_Mutation SNP ENST00000286349.4 exon1 c.A275T p.E92V exonic ENSG00000155890.4 . nonsynonymous SNV ENSG00000155890.4:ENST00000286349.4:exon1:c.A275T:p.E92V 3q23 C3L-01637 . . . . . . . . . 5.20 D D P P N D L T N 0.725 T T T 0.078 0.369 0.443 0.843 T T T T D T 3.567 24.900 0.993 D N 0.209 3.344 0.297 3.701 0.024 0.487 0.590 0.574 0.564 . 5.150 5.150 2.733 1.312 0.756 1.000 0.995 0.974 564 . . . . TRIM42 208 0 417 69 0.141975308641975 TRUE TRUE ENSG00000109606.13 . BCM GRCh38.p13 chr4 24556271 24556271 + T T C Missense_Mutation SNP ENST00000336812.5 exon4 c.A841G p.R281G exonic ENSG00000109606.13 . nonsynonymous SNV ENSG00000109606.13:ENST00000336812.5:exon4:c.A841G:p.R281G 4p15.2 C3L-01637 . . . . . . . . . 9.20 T T B B D D L T D 0.737 T T D 0.235 0.532 0.789 2.313 D T T T D D 3.064 23.500 0.992 D D 0.211 3.352 0.390 4.287 1.000 0.707 0.725 0.702 0.714 . 6.170 6.170 6.152 1.138 0.665 1.000 1.000 1.000 515 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . DHX15 115 0 190 34 0.151785714285714 TRUE TRUE ENSG00000163453.11 . BCM GRCh38.p13 chr4 57110114 57110114 + - NA C Frame_Shift_Ins INS ENST00000295666.6 exon1 c.237dupG p.Y80Vfs*18 exonic ENSG00000163453.11 . frameshift insertion ENSG00000163453.11:ENST00000295666.6:exon1:c.237dupG:p.Y80Vfs*18 4q12 C3L-01637 . . . . . . . . rs969745457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFBP7 NA NA NA NA NA NA NA ENSG00000156269.5 . BCM GRCh38.p13 chr4 79325343 79325343 + C C T Missense_Mutation SNP ENST00000286794.5 exon1 c.G535A p.E179K exonic ENSG00000156269.5 . nonsynonymous SNV ENSG00000156269.5:ENST00000286794.5:exon1:c.G535A:p.E179K 4q21.21 C3L-01637 8.329e-06 0 0 0.0001 0 0 0 0 rs772384949 1.20 T T P B U N M T N 0.119 T T T 0.056 0.297 0.266 0.196 T T T T T T 1.685 16.920 0.989 N N -0.419 1.343 -0.515 1.179 1.000 0.487 0.574 0.574 0.564 . 4.890 3.090 1.008 1.000 0.599 0.016 0.462 0.033 531 . . . . NAA11 232 0 523 78 0.129783693843594 TRUE NA ENSG00000079841.18 . BCM GRCh38.p13 chr6 72400515 72400515 + A A G Missense_Mutation SNP ENST00000521978.5 exon34 c.A4880G p.Y1627C exonic ENSG00000079841.18 . nonsynonymous SNV ENSG00000079841.18:ENST00000521978.5:exon34:c.A4880G:p.Y1627C 6q13 C3L-01637 . . . . . . . . . 19.20 D D D D D D H T D 0.906 D D D 0.841 0.718 0.892 1.965 D D D D D D 4.472 32 0.997 D D 0.973 13.106 0.889 13.287 1.000 0.554 0.563 0.618 0.621 . 5.210 5.210 9.321 1.312 0.756 1.000 1.000 0.998 883 C2_domain . . . RIMS1 188 0 345 71 0.170673076923077 TRUE NA ENSG00000179869.15 . BCM GRCh38.p13 chr7 48524381 48524381 + C C T Missense_Mutation SNP ENST00000435803.6 exon54 c.C14185T p.R4729C exonic ENSG00000179869.15 . nonsynonymous SNV ENSG00000179869.15:ENST00000435803.6:exon54:c.C14185T:p.R4729C 7p12.3 C3L-01637 0.0004 0.0002 8.954e-05 0 0 0.0004 0.0011 0.0007 rs185678311 6.16 D D . . N N . D N 0.319 D D D 0.417 . 0.458 0.101 T . T T T T 1.021 11.880 0.932 N N -0.912 0.505 -1.195 0.287 0.930 0.487 0.574 0.574 0.564 . 5.590 -9.240 -1.128 0.234 -0.136 0.000 0.005 0.121 806 ABC_transporter-like . . . ABCA13 252 0 475 55 0.10377358490566 TRUE NA ENSG00000221866.9 . BCM GRCh38.p13 chr7 132181502 132181502 + T T C Missense_Mutation SNP ENST00000359827.7 exon18 c.A3371G p.N1124S exonic ENSG00000221866.9 . nonsynonymous SNV ENSG00000221866.9:ENST00000359827.7:exon18:c.A3371G:p.N1124S 7q32.3 C3L-01637 . . . . . . . . . 13.20 D D D P D D M T D 0.537 T T D 0.311 0.655 0.729 1.130 T D T T D D 3.711 25.500 0.999 D D 0.653 6.507 0.622 6.515 1.000 0.563 0.574 0.602 0.636 . 5.250 5.250 6.081 1.138 0.665 1.000 0.969 0.916 933 IPT_domain . . . PLXNA4 447 2 889 192 0.177613320999075 TRUE TRUE ENSG00000180190.11 . BCM GRCh38.p13 chr8 492475 492475 + - NA GCA In_Frame_Ins INS ENST00000613071.1 exon4 c.481_482insTGC p.L160_R161insL exonic ENSG00000180190.11 . nonframeshift insertion ENSG00000180190.11:ENST00000613071.1:exon4:c.481_482insTGC:p.L160_R161insL 8p23.3 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TDRP NA NA NA NA NA NA NA ENSG00000158941.16 . BCM GRCh38.p13 chr8 22608031 22608031 + C C T Missense_Mutation SNP ENST00000308511.8 exon7 c.C550T p.R184W exonic ENSG00000158941.16 . nonsynonymous SNV ENSG00000158941.16:ENST00000308511.8:exon7:c.C550T:p.R184W 8p21.3 C3L-01637 2.479e-05 0 0 0.0001 0 1.504e-05 0 6.069e-05 rs376168583 13.20 D D D D D D L T D 0.562 T T D 0.317 0.598 0.565 2.149 T T T D D D 4.056 27.400 0.999 D D 0.475 4.847 0.490 5.072 1.000 0.722 0.699 0.725 0.711 . 5.820 4.920 2.710 1.026 0.599 1.000 0.999 0.997 885 . . . ID=COSV51514431;OCCURENCE=2(large_intestine) CCAR2 219 1 381 57 0.13013698630137 TRUE TRUE ENSG00000234616.9 . BCM GRCh38.p13 chr8 142664977 142665003 + TCGTTCATGTTGTAGCGGGCGTGGGGG TCGTTCATGTTGTAGCGGGCGTGGGGG - In_Frame_Del DEL ENST00000615982.4 exon2 c.1056_1082del p.P353_D361del exonic ENSG00000234616.9 . nonframeshift deletion ENSG00000234616.9:ENST00000615982.4:exon2:c.1056_1082del:p.P353_D361del 8q24.3 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JRK 153 0 302 37 0.109144542772861 TRUE NA ENSG00000057608.17 . BCM GRCh38.p13 chr10 5773884 5773884 + A A - Frame_Shift_Del DEL ENST00000380191.9 exon7 c.777delT p.I259Mfs*7 exonic ENSG00000057608.17 . frameshift deletion ENSG00000057608.17:ENST00000380191.9:exon7:c.777delT:p.I259Mfs*7 10p15.1 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GDI2 206 0 303 40 0.116618075801749 TRUE TRUE ENSG00000204740.11 . BCM GRCh38.p13 chr10 19331562 19331562 + A A T Missense_Mutation SNP ENST00000454679.7 exon24 c.A3881T p.D1294V exonic ENSG00000204740.11 . nonsynonymous SNV ENSG00000204740.11:ENST00000454679.7:exon24:c.A3881T:p.D1294V 10p12.31 C3L-01637 . . . . . . . . . 14.14 D D . . . D . D D 0.847 D D D 0.887 . 0.869 . . . D D D D 4.287 29.500 0.994 D D 0.456 4.709 0.552 5.667 1.000 0.487 0.574 0.574 0.564 . 5.930 5.930 8.505 1.284 0.750 1.000 0.994 0.969 950 Low-density_lipoprotein_(LDL)_receptor_class_A,_conserved_site . . . MALRD1 169 1 305 58 0.159779614325069 TRUE TRUE ENSG00000138316.11 . BCM GRCh38.p13 chr10 70730156 70730156 + C C T Missense_Mutation SNP ENST00000373207.2 exon6 c.C1009T p.R337C exonic ENSG00000138316.11 . nonsynonymous SNV ENSG00000138316.11:ENST00000373207.2:exon6:c.C1009T:p.R337C 10q22.1 C3L-01637 1.655e-05 0 0 0.0001 0 1.506e-05 0 0 rs775055593 17.20 D D D D D D M T D 0.884 D T D 0.480 0.536 0.881 0.815 D T D D D D 4.367 31 0.999 D D 0.801 8.795 0.741 8.599 1.000 0.539 0.574 0.784 0.564 . 4.700 4.700 5.978 0.947 0.599 1.000 1.000 0.998 324 Peptidase_M12B,_ADAM/reprolysin . . ID=COSV100941798;OCCURENCE=1(pancreas) ADAMTS14 102 0 217 41 0.158914728682171 TRUE NA ENSG00000182170.3 . BCM GRCh38.p13 chr11 3217955 3217955 + C C A Missense_Mutation SNP ENST00000332314.3 exon1 c.G859T p.G287C exonic ENSG00000182170.3 . nonsynonymous SNV ENSG00000182170.3:ENST00000332314.3:exon1:c.G859T:p.G287C 11p15.4 C3L-01637 . . . . . . . . . 5.17 D D . . . N M T D 0.168 T T T 0.014 0.308 0.067 . T T T T D T 1.570 16.190 0.983 N N -0.948 0.462 -1.111 0.365 0.997 0.487 0.574 0.578 0.563 . 3.720 -3.470 -1.145 -0.978 0.577 0.000 0.020 0.023 976 . . . . MRGPRG 47 0 82 14 0.145833333333333 TRUE TRUE ENSG00000170790.5 . BCM GRCh38.p13 chr11 6869861 6869861 + C C A Missense_Mutation SNP ENST00000641461.1 exon2 c.C107A p.T36N exonic ENSG00000170790.5 . nonsynonymous SNV ENSG00000170790.5:ENST00000641461.1:exon2:c.C107A:p.T36N 11p15.4 C3L-01637 . . . . . . . . . 7.20 D D D P D N M T D 0.472 T T T 0.082 0.579 0.602 0.414 T T T T D T 1.964 18.980 0.980 N N 0.134 3.025 -0.054 2.183 0.006 0.554 0.574 0.618 0.564 . 4.300 4.300 0.901 1.023 0.599 0.000 0.050 0.017 522 GPCR,_rhodopsin-like,_7TM . . . OR10A2 319 1 676 105 0.134443021766965 NA TRUE ENSG00000234776.5 . BCM GRCh38.p13 chr11 45907191 45907191 + G G - Frame_Shift_Del DEL ENST00000449465.2 exon1 c.55delC p.L19Sfs*15 exonic ENSG00000234776.5 . frameshift deletion ENSG00000234776.5:ENST00000449465.2:exon1:c.55delC:p.L19Sfs*15 11p11.2 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C11orf94 172 0 394 70 0.150862068965517 TRUE TRUE ENSG00000149357.10 . BCM GRCh38.p13 chr11 72099151 72099151 + C C T Missense_Mutation SNP ENST00000278671.10 exon2 c.G148A p.E50K exonic ENSG00000149357.10 . nonsynonymous SNV ENSG00000149357.10:ENST00000278671.10:exon2:c.G148A:p.E50K 11q13.4 C3L-01637 . . . . . . . . . 17.20 D D D D D D M T D 0.935 T T D 0.381 0.209 0.804 1.225 D D D D D D 4.112 27.900 0.983 D D 0.637 6.321 0.703 7.804 1.000 0.707 0.702 0.702 0.714 . 5.910 5.910 7.326 1.010 0.580 1.000 1.000 0.996 557 . . . . LAMTOR1 126 1 317 39 0.109550561797753 TRUE TRUE ENSG00000134640.2 . BCM GRCh38.p13 chr11 92969828 92969828 + C C T Nonsense_Mutation SNP ENST00000257068.2 exon1 c.C103T p.R35X exonic ENSG00000134640.2 . stopgain ENSG00000134640.2:ENST00000257068.2:exon1:c.C103T:p.R35X 11q14.3 C3L-01637 . . . . . . . . rs551192907 4.6 . . . . D A . . . 0.596 . . . . . . . . . D D . . 4.999 33 0.992 N N -0.013 2.465 -0.370 1.427 0.997 0.549 0.627 0.608 0.530 . 3.500 2.540 0.398 0.012 0.596 0.008 0.000 0.001 803 . . . . MTNR1B 75 0 212 19 0.0822510822510823 TRUE NA ENSG00000137692.12 . BCM GRCh38.p13 chr11 103089299 103089299 + G G A Missense_Mutation SNP ENST00000260247.10 exon2 c.C106T p.P36S exonic ENSG00000137692.12 . nonsynonymous SNV ENSG00000137692.12:ENST00000260247.10:exon2:c.C106T:p.P36S 11q22.3 C3L-01637 . . . . . . . . . 2.19 T T B B N D N . N 0.079 T T T 0.120 0.173 0.246 0.724 T T T T T T 1.837 18.010 0.899 D N -0.536 1.106 -0.267 1.633 1.000 0.660 0.663 0.663 0.639 . 5.800 3.940 1.782 1.176 0.676 1.000 1.000 1.000 211 . . . . DCUN1D5 96 0 186 41 0.180616740088106 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227341 25227341 + T T A Missense_Mutation SNP ENST00000256078.10 exon3 c.A183T p.Q61H exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A183T:p.Q61H 12p12.1 C3L-01637 . . . . . . . . rs17851045 16.20 D D B B D D M D D 0.760 D D D 0.647 0.659 0.905 1.857 D D D D D T 3.041 23.500 0.997 D N 0.298 3.768 0.383 4.239 0.998 0.722 0.710 0.710 0.735 . 5.770 5.770 2.812 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55499223;OCCURENCE=1(breast),2(liver),3(cervix),54(large_intestine),2(biliary_tract),1(ovary),1(NS),2(stomach),18(haematopoietic_and_lymphoid_tissue),1(urinary_tract),3(soft_tissue),21(pancreas),33(lung),1(thyroid) KRAS 214 0 365 51 0.122596153846154 TRUE TRUE ENSG00000066117.15 . BCM GRCh38.p13 chr12 50090275 50090275 + G G A Missense_Mutation SNP ENST00000394963.9 exon8 c.G908A p.R303Q exonic ENSG00000066117.15 . nonsynonymous SNV ENSG00000066117.15:ENST00000394963.9:exon8:c.G908A:p.R303Q 12q13.12 C3L-01637 . . . . . . . . . 9.20 T D P B D D L T D 0.746 T T T 0.242 0.495 0.307 1.646 D T T T D D 3.581 25.000 0.999 D D 0.392 4.297 0.516 5.312 1.000 0.719 0.723 0.702 0.711 . 5.320 5.320 9.940 1.176 0.676 1.000 0.998 0.949 217 SWIB_domain;SWIB/MDM2_domain . . ID=COSV67411587;OCCURENCE=1(large_intestine) SMARCD1 141 0 206 40 0.16260162601626 TRUE TRUE ENSG00000067221.14 . BCM GRCh38.p13 chr15 73989199 73989199 + - NA G Frame_Shift_Ins INS ENST00000541638.6 exon3 c.298dupC p.Q100Pfs*13 exonic ENSG00000067221.14 . frameshift insertion ENSG00000067221.14:ENST00000541638.6:exon3:c.298dupC:p.Q100Pfs*13 15q24.1 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STOML1 NA NA NA NA NA NA NA ENSG00000103326.12 . BCM GRCh38.p13 chr16 547277 547290 + TGGGCGTGTCCGCG TGGGCGTGTCCGCG - Frame_Shift_Del DEL ENST00000219611.7 exon4 c.439_452del p.W147Lfs*29 exonic ENSG00000103326.12 . frameshift deletion ENSG00000103326.12:ENST00000219611.7:exon4:c.439_452del:p.W147Lfs*29 16p13.3 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAPN15 100 0 263 59 0.183229813664596 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675160 7675160 + G G C Missense_Mutation SNP ENST00000269305.8 exon5 c.C452G p.P151R exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C452G:p.P151R 17p13.1 C3L-01637 . . . . . . . . rs1057520000 19.20 D D D D D D M D D 0.856 D D D 0.912 0.851 0.972 1.705 T D D D D D 3.760 25.700 0.998 D D 0.690 6.985 0.565 5.812 1.000 0.722 0.698 0.698 0.735 . 5.590 4.630 8.190 1.176 0.676 1.000 0.202 0.669 434 p53,_DNA-binding_domain . . ID=COSV52677206;OCCURENCE=2(breast),1(oesophagus),4(large_intestine),1(central_nervous_system),3(ovary),1(stomach),1(urinary_tract),1(kidney),1(pancreas),3(lung),2(endometrium) TP53 276 0 393 92 0.189690721649485 TRUE TRUE ENSG00000094804.12 . BCM GRCh38.p13 chr17 40291285 40291285 + C C G Missense_Mutation SNP ENST00000209728.9 exon3 c.C406G p.Q136E exonic ENSG00000094804.12 . nonsynonymous SNV ENSG00000094804.12:ENST00000209728.9:exon3:c.C406G:p.Q136E 17q21.2 C3L-01637 . . . . . . . . . 1.20 T T B B N N M T N 0.180 T T T 0.070 0.256 0.604 0.212 T T T T T T 0.325 4.582 0.679 N N -0.428 1.323 -0.382 1.405 1.000 0.731 0.750 0.702 0.734 . 5.600 4.610 1.182 0.123 0.599 0.008 0.160 0.072 350 . . . . CDC6 236 0 413 66 0.137787056367432 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51076653 51076653 + C C T Nonsense_Mutation SNP ENST00000342988.8 exon11 c.C1324T p.Q442X exonic ENSG00000141646.14 . stopgain ENSG00000141646.14:ENST00000342988.8:exon11:c.C1324T:p.Q442X 18q21.2 C3L-01637 . . . . . . . . . 5.6 . . . . D A . . . 0.986 . . . . . . . . . D D . . 8.276 42 0.998 D N 1.240 28.024 1.115 28.821 1.000 0.732 0.744 0.725 0.714 . 6.030 6.030 7.773 1.026 0.599 1.000 0.997 0.997 865 SMAD_domain,_Dwarfin-type . . ID=COSV61684132;OCCURENCE=1(large_intestine),1(biliary_tract),1(kidney),3(pancreas) SMAD4 223 0 331 67 0.168341708542714 TRUE TRUE ENSG00000160321.15 . BCM GRCh38.p13 chr19 21974397 21974397 + A A T Missense_Mutation SNP ENST00000397126.9 exon4 c.T637A p.S213T exonic ENSG00000160321.15 . nonsynonymous SNV ENSG00000160321.15:ENST00000397126.9:exon4:c.T637A:p.S213T 19p12 C3L-01637 . . . . . . . . . 1.19 T T B B . N H T N 0.124 T T T 0.007 0.352 0.105 0.009 T T T T T T 0.721 8.643 0.119 N N -1.297 0.166 -1.480 0.116 0.000 0.487 0.574 0.574 0.564 . 1.360 -2.730 -1.296 0.458 0.410 0.000 0.001 0.001 988 Zinc_finger_C2H2-type . . . ZNF208 171 0 364 52 0.125 NA TRUE ENSG00000196437.12 . BCM GRCh38.p13 chr19 37414071 37414071 + T T C Missense_Mutation SNP ENST00000316950.11 exon6 c.A587G p.N196S exonic ENSG00000196437.12 . nonsynonymous SNV ENSG00000196437.12:ENST00000316950.11:exon6:c.A587G:p.N196S 19q13.12 C3L-01637 9.091e-05 9.846e-05 0.0007 0 0 1.501e-05 0.0011 0 rs532445392 0.20 T T B B N N N T N 0.053 T T T 0.051 0.378 0.161 0.097 T T T T T T -0.523 0.106 0.796 N N -1.404 0.115 -1.392 0.156 0.216 0.615 0.634 0.659 0.794 . 3.730 -4.300 -0.973 -0.487 -0.220 0.000 0.941 0.992 633 Zinc_finger_C2H2-type . . . ZNF569 191 0 313 36 0.103151862464183 TRUE NA ENSG00000101445.10 . BCM GRCh38.p13 chr20 38918389 38918389 + G G A Missense_Mutation SNP ENST00000299824.6 exon11 c.G1427A p.S476N exonic ENSG00000101445.10 . nonsynonymous SNV ENSG00000101445.10:ENST00000299824.6:exon11:c.G1427A:p.S476N 20q11.23 C3L-01637 . . . . . . . . . 4.20 T T B B D N L T N 0.053 T T T 0.124 0.273 0.596 0.415 T T T T D T 2.917 23.200 0.996 D D 0.062 2.738 0.226 3.315 1.000 0.672 0.698 0.659 0.711 . 5.200 5.200 4.097 1.176 0.676 1.000 0.999 0.982 889 . . . ID=COSV100239676;OCCURENCE=1(stomach) PPP1R16B 324 0 862 98 0.102083333333333 TRUE TRUE ENSG00000142149.9 . BCM GRCh38.p13 chr21 31990171 31990171 + G G A Missense_Mutation SNP ENST00000270112.7 exon9 c.G1300A p.V434M exonic ENSG00000142149.9 . nonsynonymous SNV ENSG00000142149.9:ENST00000270112.7:exon9:c.G1300A:p.V434M 21q22.11 C3L-01637 7.415e-05 0 8.642e-05 0.0001 0 8.993e-05 0 6.057e-05 rs367545209 3.20 D T D B N N N T N 0.408 T T T 0.160 . 0.356 0.154 T T T T T T 2.845 23.100 0.995 D N -0.035 2.389 0.010 2.393 0.107 0.615 0.574 0.659 0.564 . 4.000 2.130 2.591 1.176 0.676 1.000 1.000 0.989 800 . . . ID=COSV54224899;OCCURENCE=1(adrenal_gland),1(central_nervous_system) HUNK 230 0 292 45 0.13353115727003 TRUE TRUE ENSG00000075240.17 . BCM GRCh38.p13 chr22 46677148 46677148 + C C G Missense_Mutation SNP ENST00000406902.6 exon19 c.C1634G p.P545R exonic ENSG00000075240.17 . nonsynonymous SNV ENSG00000075240.17:ENST00000406902.6:exon19:c.C1634G:p.P545R 22q13.31 C3L-01637 . . . . . . . . . 17.20 D D D D D D L T D 0.854 D D D 0.645 0.455 0.645 2.540 D T D D D D 4.410 31 0.998 D D 0.471 4.820 0.449 4.723 1.000 0.719 0.723 0.723 0.700 . 4.700 4.700 6.837 1.026 0.599 1.000 0.849 0.736 654 GRAM_domain;GRAMDC4,_PH-GRAM_domain . . . GRAMD4 175 0 272 63 0.188059701492537 TRUE TRUE ENSG00000170745.12 . BCM GRCh38.p13 chr2 17931566 17931566 + T T C Silent SNP ENST00000304101.9 exon3 c.T558C p.L186L exonic ENSG00000170745.12 . synonymous SNV ENSG00000170745.12:ENST00000304101.9:exon3:c.T558C:p.L186L 2p24.2 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNS3 162 0 376 68 0.153153153153153 TRUE TRUE ENSG00000118997.14 . BCM GRCh38.p13 chr2 195864977 195864977 + T T C Silent SNP ENST00000312428.11 exon41 c.A6678G p.R2226R exonic ENSG00000118997.14 . synonymous SNV ENSG00000118997.14:ENST00000312428.11:exon41:c.A6678G:p.R2226R 2q32.3 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH7 99 0 192 44 0.186440677966102 TRUE TRUE ENSG00000153002.12 . BCM GRCh38.p13 chr3 148845476 148845476 + A A C Silent SNP ENST00000282957.9 exon9 c.A831C p.A277A exonic ENSG00000153002.12 . synonymous SNV ENSG00000153002.12:ENST00000282957.9:exon9:c.A831C:p.A277A 3q24 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPB1 289 0 569 98 0.146926536731634 TRUE TRUE ENSG00000145246.14 . BCM GRCh38.p13 chr4 47563648 47563648 + G G A Silent SNP ENST00000273859.8 exon15 c.G2736A p.A912A exonic ENSG00000145246.14 . synonymous SNV ENSG00000145246.14:ENST00000273859.8:exon15:c.G2736A:p.A912A 4p12 C3L-01637 4.122e-05 0 8.642e-05 0.0001 0 4.5e-05 0 0 rs201043225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56707418;OCCURENCE=1(stomach) ATP10D 138 0 231 28 0.108108108108108 TRUE TRUE ENSG00000205038.12 . BCM GRCh38.p13 chr8 109522325 109522325 + T T A Silent SNP ENST00000378402.10 exon74 c.T12171A p.S4057S exonic ENSG00000205038.12 . synonymous SNV ENSG00000205038.12:ENST00000378402.10:exon74:c.T12171A:p.S4057S 8q23.2 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKHD1L1 101 0 155 28 0.153005464480874 TRUE TRUE ENSG00000186583.12 . BCM GRCh38.p13 chr8 144040713 144040713 + G G A Silent SNP ENST00000377470.8 exon3 c.G912A p.S304S exonic ENSG00000186583.12 . synonymous SNV ENSG00000186583.12:ENST00000377470.8:exon3:c.G912A:p.S304S 8q24.3 C3L-01637 1.667e-05 9.752e-05 0 0 0 0 0 6.083e-05 rs782610725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66299223;OCCURENCE=2(skin) SPATC1 201 0 330 58 0.149484536082474 TRUE NA ENSG00000170631.15 . BCM GRCh38.p13 chr8 144931344 144931344 + G G T Silent SNP ENST00000394909.7 exon3 c.C1443A p.I481I exonic ENSG00000170631.15 . synonymous SNV ENSG00000170631.15:ENST00000394909.7:exon3:c.C1443A:p.I481I 8q24.3 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF16 184 0 438 62 0.124 TRUE TRUE ENSG00000197702.14 . BCM GRCh38.p13 chr11 12477933 12477933 + C C T Silent SNP ENST00000334956.15 exon4 c.C384T p.V128V exonic ENSG00000197702.14 . synonymous SNV ENSG00000197702.14:ENST00000334956.15:exon4:c.C384T:p.V128V 11p15.3 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PARVA 367 0 817 45 0.0522041763341067 TRUE TRUE ENSG00000196557.13 . BCM GRCh38.p13 chr16 1201962 1201962 + G G A Silent SNP ENST00000348261.11 exon9 c.G1512A p.Q504Q exonic ENSG00000196557.13 . synonymous SNV ENSG00000196557.13:ENST00000348261.11:exon9:c.G1512A:p.Q504Q 16p13.3 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1H 146 0 353 74 0.173302107728337 TRUE TRUE ENSG00000099783.12 . BCM GRCh38.p13 chr19 8463593 8463593 + T T G Silent SNP ENST00000325495.9 exon5 c.T345G p.A115A exonic ENSG00000099783.12 . synonymous SNV ENSG00000099783.12:ENST00000325495.9:exon5:c.T345G:p.A115A 19p13.2 C3L-01637 . . . . . . . . . 1.9 . T . . . D . T . . . . . . . 0.876 . . T T T . T 0.602 7.534 0.655 N N . . . . 1.000 0.672 0.698 0.702 0.711 . 6.170 -5.540 -0.344 -0.580 -0.718 0.440 0.685 0.645 734 RNA_recognition_motif_domain . . . HNRNPM 165 0 366 22 0.0567010309278351 TRUE TRUE ENSG00000105409.19 . BCM GRCh38.p13 chr19 41985319 41985319 + G G A Silent SNP ENST00000644613.1 exon7 c.C711T p.T237T exonic ENSG00000105409.19;ENSG00000285505.1 . synonymous SNV ENSG00000285505.1:ENST00000644613.1:exon7:c.C711T:p.T237T,ENSG00000105409.19:ENST00000648268.1:exon7:c.C711T:p.T237T 19q13.2 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP1A3 474 0 879 130 0.128840436075322 TRUE TRUE ENSG00000187244.12 . BCM GRCh38.p13 chr19 44813285 44813285 + C C G Silent SNP ENST00000270233.12 exon5 c.C540G p.A180A exonic ENSG00000187244.12 . synonymous SNV ENSG00000187244.12:ENST00000270233.12:exon5:c.C540G:p.A180A 19q13.32 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCAM 258 0 491 64 0.115315315315315 TRUE TRUE ENSG00000241973.11 . BCM GRCh38.p13 chr22 20798585 20798585 + T T G Silent SNP ENST00000255882.11 exon17 c.A2107C p.R703R exonic ENSG00000241973.11 . synonymous SNV ENSG00000241973.11:ENST00000255882.11:exon17:c.A2107C:p.R703R 22q11.21 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PI4KA 220 0 390 86 0.180672268907563 TRUE TRUE ENSG00000134882.16 . BCM GRCh38.p13 chr13 99201442 99201442 + T T C Intron SNP NA NA NA NA intronic ENSG00000134882.16 . . . 13q32.3 C3L-01637 . . . . . . . . . 1.15 D T B B . N . . N 0.048 T T T 0.013 0.251 0.150 . . . T T T T 0.704 8.494 0.954 N N -0.936 0.476 -1.009 0.478 1.000 0.267 0.219 0.520 0.250 . 3.540 1.120 0.172 1.043 0.607 0.013 0.124 0.039 888 . . . . UBAC2 149 0 224 57 0.202846975088968 TRUE NA ENSG00000121068.14 . BCM GRCh38.p13 chr17 61404987 61404987 + G G T Intron SNP NA NA NA NA intronic ENSG00000121068.14 . . . 17q23.2 C3L-01637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBX2 229 2 389 70 0.152505446623094 TRUE NA ENSG00000117713.20 . BCM GRCh38.p13 chr1 26771212 26771212 + C C T Nonsense_Mutation SNP ENST00000324856.13 exon12 c.C3292T p.Q1098X exonic ENSG00000117713.20 . stopgain ENSG00000117713.20:ENST00000324856.13:exon12:c.C3292T:p.Q1098X 1p36.11 C3N-04119 . . . . . . . . . 5.6 . . . . D A . . . 0.985 . . . . . . . . . D D . . 7.274 37 0.998 D N 1.061 15.972 0.940 15.590 1.000 0.722 0.699 0.698 0.592 . 5.430 5.430 7.844 0.947 0.599 1.000 1.000 1.000 412 ARID_DNA-binding_domain . . ID=COSV61372190;OCCURENCE=1(stomach),1(pancreas),1(endometrium) ARID1A 479 0 617 59 0.0872781065088757 TRUE TRUE ENSG00000090621.14 . BCM GRCh38.p13 chr1 39562159 39562159 + C C T Missense_Mutation SNP ENST00000372857.7 exon14 c.G1759A p.A587T exonic ENSG00000090621.14 . nonsynonymous SNV ENSG00000090621.14:ENST00000372857.7:exon14:c.G1759A:p.A587T 1p34.3 C3N-04119 . . . . . . . . . 13.20 T D P P D D M T N 0.881 T D D 0.399 0.862 0.711 1.278 D T D D D D 3.265 24.000 0.999 D D 0.528 5.257 0.554 5.691 1.000 0.672 0.698 0.702 0.711 . 5.420 5.420 7.860 1.026 0.599 1.000 0.271 0.826 318 Polyadenylate-binding_protein/Hyperplastic_disc_protein . . . PABPC4 246 0 335 34 0.0921409214092141 TRUE TRUE ENSG00000116209.12 . BCM GRCh38.p13 chr1 54047276 54047276 + A A T Missense_Mutation SNP ENST00000234831.10 exon2 c.T286A p.C96S exonic ENSG00000116209.12 . nonsynonymous SNV ENSG00000116209.12:ENST00000234831.10:exon2:c.T286A:p.C96S 1p32.3 C3N-04119 1.653e-05 0 0 0 0 3.012e-05 0 0 rs755400755 19.20 D D D D D D M T D 0.976 D D D 0.894 0.714 0.900 0.749 D D D D D D 4.203 28.700 0.994 D D 0.882 10.606 0.843 11.513 1.000 0.706 0.686 0.710 0.617 . 5.460 5.460 8.488 1.312 0.691 1.000 1.000 0.999 826 . . . . TMEM59 137 0 169 28 0.142131979695431 TRUE NA ENSG00000154342.6 . BCM GRCh38.p13 chr1 228059059 228059059 + G G A Nonsense_Mutation SNP ENST00000284523.2 exon4 c.G653A p.W218X exonic ENSG00000154342.6 . stopgain ENSG00000154342.6:ENST00000284523.2:exon4:c.G653A:p.W218X 1q42.13 C3N-04119 . . . . . . . . . 5.6 . . . . D D . . . 0.835 . . . . . . . . . D D . . 8.373 42 0.995 D N 0.930 11.848 0.793 9.929 1.000 0.598 0.563 0.607 0.639 . 4.580 4.580 9.866 1.176 0.618 1.000 1.000 0.994 721 . . . . WNT3A 247 0 378 41 0.0978520286396181 TRUE TRUE ENSG00000183780.13 . BCM GRCh38.p13 chr1 234316620 234316620 + G G A Missense_Mutation SNP ENST00000366617.3 exon4 c.G640A p.A214T exonic ENSG00000183780.13 . nonsynonymous SNV ENSG00000183780.13:ENST00000366617.3:exon4:c.G640A:p.A214T 1q42.2 C3N-04119 8.259e-06 0 0 0 0 0 0 6.123e-05 rs762720695 14.20 D D D D D D L T N 0.859 T T D 0.428 0.601 0.134 1.545 D T D D D D 4.372 31 0.999 D D 0.766 8.156 0.788 9.773 1.000 0.615 0.588 0.659 0.542 . 5.730 5.730 8.012 1.176 0.676 1.000 0.999 0.992 969 EamA_domain . . ID=COSV100784683;OCCURENCE=1(central_nervous_system),1(endometrium) SLC35F3 89 0 133 25 0.158227848101266 TRUE NA ENSG00000198601.3 . BCM GRCh38.p13 chr1 248180349 248180349 + C C T Missense_Mutation SNP ENST00000641211.1 exon3 c.C364T p.R122C exonic ENSG00000198601.3 . nonsynonymous SNV ENSG00000198601.3:ENST00000641211.1:exon3:c.C364T:p.R122C 1q44 C3N-04119 0.0003 0 0 0 0 0 0 0.0022 rs563979686 3.20 T D B B N N M T D 0.081 T T T 0.241 0.558 0.425 0.152 T T T T T T 1.056 12.300 0.510 N N -1.132 0.279 -1.288 0.217 0.000 0.487 0.574 0.574 0.564 . 1.880 -2.560 -0.119 0.372 -0.649 0.196 0.001 0.001 976 GPCR,_rhodopsin-like,_7TM . . . OR2M2 320 0 300 38 0.112426035502959 TRUE NA ENSG00000158089.15 . BCM GRCh38.p13 chr2 30992881 30992881 + G G A Missense_Mutation SNP ENST00000349752.10 exon2 c.C256T p.R86W exonic ENSG00000158089.15 . nonsynonymous SNV ENSG00000158089.15:ENST00000349752.10:exon2:c.C256T:p.R86W 2p23.1 C3N-04119 0.0004 0 8.64e-05 0 0 0.0008 0 0 rs143970227 11.18 D D D P . D M T D 0.903 T T D 0.471 . 0.911 . . T T D T D 2.185 20.800 0.999 D D 0.681 6.863 0.635 6.692 0.999 0.752 0.588 0.390 0.564 . 4.960 4.960 4.158 1.176 0.676 1.000 0.998 0.882 934 . . . ID=COSV61112843;OCCURENCE=1(central_nervous_system) GALNT14 177 1 304 31 0.0925373134328358 TRUE NA ENSG00000152154.11 . BCM GRCh38.p13 chr2 39666352 39666352 + C C A Missense_Mutation SNP ENST00000281961.3 exon1 c.C378A p.D126E exonic ENSG00000152154.11 . nonsynonymous SNV ENSG00000152154.11:ENST00000281961.3:exon1:c.C378A:p.D126E 2p22.1 C3N-04119 . . . . . . . . . 6.20 T T P B D D L T N 0.106 T T D 0.146 0.428 0.043 0.828 D T T T D T 2.288 21.500 0.959 D N 0.015 2.564 0.063 2.586 1.000 0.726 0.610 0.594 0.568 . 3.550 3.550 0.109 0.059 0.485 0.725 1.000 0.998 641 . . . . TMEM178A 181 0 264 32 0.108108108108108 TRUE TRUE ENSG00000155052.14 . BCM GRCh38.p13 chr2 124789917 124789917 + G G A Missense_Mutation SNP ENST00000431078.1 exon18 c.G2765A p.R922K exonic ENSG00000155052.14 . nonsynonymous SNV ENSG00000155052.14:ENST00000431078.1:exon18:c.G2765A:p.R922K 2q14.3 C3N-04119 . . . . . . . . . 5.20 T T P B N D M T N 0.277 T T T 0.200 0.511 0.463 0.352 T T T T D T 3.046 23.500 0.992 D D 0.220 3.393 0.228 3.324 0.000 0.595 0.574 0.598 0.564 . 5.240 3.310 4.167 1.176 0.676 1.000 0.995 0.865 942 Laminin_G_domain . . . CNTNAP5 121 0 174 11 0.0594594594594595 TRUE TRUE ENSG00000067066.17 . BCM GRCh38.p13 chr2 230462473 230462473 + G G A Missense_Mutation SNP ENST00000264052.9 exon10 c.G1012A p.D338N exonic ENSG00000067066.17 . nonsynonymous SNV ENSG00000067066.17:ENST00000264052.9:exon10:c.G1012A:p.D338N 2q37.1 C3N-04119 . . . . . . . . . 6.20 D D D P N N L D N 0.214 T T D 0.053 0.205 0.808 0.592 T T T T T D 2.315 21.700 0.997 N N -0.382 1.423 -0.556 1.113 0.995 0.707 0.702 0.574 0.714 . 4.090 2.190 0.512 1.176 0.676 0.000 0.004 0.002 946 . . . . SP100 255 0 272 23 0.0779661016949153 TRUE TRUE ENSG00000132330.18 . BCM GRCh38.p13 chr2 238081821 238081821 + G G C Missense_Mutation SNP ENST00000254663.12 exon5 c.G597C p.E199D exonic ENSG00000132330.18 . nonsynonymous SNV ENSG00000132330.18:ENST00000254663.12:exon5:c.G597C:p.E199D 2q37.3 C3N-04119 . . . . . . . . . 18.19 D D D D D D H D D 0.901 D D D 0.636 0.919 0.895 0.392 T . D D D D 3.857 26.100 0.998 D D 0.583 5.758 0.538 5.523 1.000 0.707 0.725 0.725 0.714 . 5.840 4.950 5.869 1.176 0.676 1.000 0.686 0.233 964 Aminotransferase_class_V_domain . . . SCLY 179 0 249 28 0.101083032490975 TRUE TRUE ENSG00000168016.14 . BCM GRCh38.p13 chr3 36832015 36832015 + C C T Missense_Mutation SNP ENST00000429976.5 exon21 c.G7436A p.R2479Q exonic ENSG00000168016.14 . nonsynonymous SNV ENSG00000168016.14:ENST00000429976.5:exon21:c.G7436A:p.R2479Q 3p22.2 C3N-04119 8.28e-06 0 0 0 0 1.498e-05 0 0 rs756325744 5.20 D D D P N N M T N 0.264 T T T 0.055 . 0.364 0.212 T T T T D T 2.869 23.200 0.999 N N 0.222 3.402 0.142 2.913 0.065 0.706 0.634 0.710 0.655 . 5.050 1.280 0.582 1.022 0.596 0.972 1.000 0.996 759 . . . . TRANK1 205 0 280 24 0.0789473684210526 TRUE NA ENSG00000068001.14 . BCM GRCh38.p13 chr3 50318416 50318416 + G G A Missense_Mutation SNP ENST00000357750.9 exon4 c.C1135T p.R379C exonic ENSG00000068001.14 . nonsynonymous SNV ENSG00000068001.14:ENST00000357750.9:exon4:c.C1135T:p.R379C 3p21.31 C3N-04119 . . . . . . . . . 14.20 D D D D D D M T D 0.482 T T D 0.189 0.404 0.690 1.583 T D T T D D 4.164 28.300 0.999 D D 0.732 7.587 0.706 7.863 1.000 0.672 0.702 0.702 0.639 . 5.930 5.930 2.037 1.176 0.676 0.995 1.000 0.998 2 . . . ID=COSV63306114;OCCURENCE=1(NS) HYAL2 231 0 481 48 0.0907372400756144 TRUE TRUE ENSG00000163618.18 . BCM GRCh38.p13 chr3 62650935 62650935 + C C T Missense_Mutation SNP ENST00000383710.9 exon5 c.G1115A p.R372H exonic ENSG00000163618.18 . nonsynonymous SNV ENSG00000163618.18:ENST00000383710.9:exon5:c.G1115A:p.R372H 3p14.2 C3N-04119 . . . . . . . . . 14.20 D D D D D D M T D 0.856 T T T 0.349 0.570 0.779 1.141 T D D T D D 4.089 27.700 0.999 D D 0.848 9.802 0.864 12.297 1.000 0.638 0.574 0.653 0.530 . 6.030 6.030 7.905 1.026 0.599 1.000 1.000 0.998 927 . . . ID=COSV99337214;OCCURENCE=1(lung) CADPS 437 0 508 48 0.0863309352517986 TRUE NA ENSG00000082684.16 . BCM GRCh38.p13 chr3 122961221 122961221 + C C T Missense_Mutation SNP ENST00000357599.8 exon2 c.G43A p.V15I exonic ENSG00000082684.16 . nonsynonymous SNV ENSG00000082684.16:ENST00000357599.8:exon2:c.G43A:p.V15I 3q21.1 C3N-04119 . . . . . . . . rs555943228 1.18 D . B B . N N T N 0.082 T T T 0.026 0.207 0.310 0.258 T T T T T T -0.573 0.083 0.897 N N -1.198 0.228 -1.266 0.232 1.000 0.706 0.590 0.710 0.530 . 3.230 -1.910 -1.582 -0.375 0.549 0.000 0.000 0.001 583 . . . ID=COSV52093968;OCCURENCE=1(large_intestine),1(NS) SEMA5B 177 0 216 22 0.092436974789916 TRUE TRUE ENSG00000169026.12 . BCM GRCh38.p13 chr4 682841 682841 + G G A Nonsense_Mutation SNP ENST00000404286.6 exon9 c.C1204T p.R402X exonic ENSG00000169026.12 . stopgain ENSG00000169026.12:ENST00000404286.6:exon9:c.C1204T:p.R402X 4p16.3 C3N-04119 0.0003 0 0 0 0 0 0 0.0019 rs772057703 3.6 . . . . N A . . . 0.097 . . . . . . . . . D D . . 6.296 35 0.997 N N 0.161 3.135 -0.180 1.835 1.000 0.635 0.694 0.644 0.605 . 4.200 3.330 0.925 1.166 0.665 0.001 0.014 0.011 824 Major_facilitator_superfamily_domain . . . SLC49A3 190 0 284 43 0.131498470948012 TRUE NA ENSG00000173610.12 . BCM GRCh38.p13 chr4 69647487 69647487 + A A C Missense_Mutation SNP ENST00000514019.1 exon2 c.T158G p.L53R exonic ENSG00000173610.12 . nonsynonymous SNV ENSG00000173610.12:ENST00000514019.1:exon2:c.T158G:p.L53R 4q13.3 C3N-04119 . . . . . . . . . 15.17 D D D D D . . T D 0.944 D D D 0.627 0.786 0.735 0.066 T . D D D D 3.082 23.600 0.996 D D 0.598 5.900 0.437 4.630 0.011 0.554 0.574 0.618 0.621 . 5.930 5.930 7.336 1.288 0.756 0.726 0.818 0.371 946 . . . . UGT2A1 160 0 133 14 0.0952380952380952 TRUE TRUE ENSG00000039139.9 . BCM GRCh38.p13 chr5 13839422 13839422 + G G A Missense_Mutation SNP ENST00000265104.4 exon35 c.C5816T p.A1939V exonic ENSG00000039139.9 . nonsynonymous SNV ENSG00000039139.9:ENST00000265104.4:exon35:c.C5816T:p.A1939V 5p15.2 C3N-04119 2.472e-05 0 0 0 0 4.497e-05 0 0 rs376871205 2.19 D . B B N N N T N 0.188 T T T 0.036 . 0.390 0.257 T T T T T D 1.996 19.230 0.997 N N -0.470 1.236 -0.355 1.456 0.772 0.554 0.574 0.618 0.564 . 4.930 4.050 0.447 1.176 0.676 0.000 0.995 0.988 689 . . . . DNAH5 214 0 153 16 0.0946745562130177 TRUE NA ENSG00000164327.13 . BCM GRCh38.p13 chr5 38952265 38952265 + T T C Missense_Mutation SNP ENST00000357387.8 exon30 c.A3058G p.S1020G exonic ENSG00000164327.13 . nonsynonymous SNV ENSG00000164327.13:ENST00000357387.8:exon30:c.A3058G:p.S1020G 5p13.1 C3N-04119 8.276e-06 0 0 0 0 0 0 6.068e-05 rs757720947 10.20 D T D D D D L T N 0.739 T T D 0.215 0.199 0.162 1.136 T T T T D D 4.109 27.800 0.999 D D 0.690 6.984 0.681 7.410 1.000 0.707 0.725 0.651 0.714 . 5.520 5.520 7.645 1.138 0.609 1.000 1.000 0.995 226 . . . . RICTOR 268 0 199 20 0.091324200913242 TRUE NA ENSG00000113319.13 . BCM GRCh38.p13 chr5 81094918 81094918 + G G A Missense_Mutation SNP ENST00000265080.9 exon12 c.G1681A p.A561T exonic ENSG00000113319.13 . nonsynonymous SNV ENSG00000113319.13:ENST00000265080.9:exon12:c.G1681A:p.A561T 5q14.1 C3N-04119 1.649e-05 0 0 0 0 1.499e-05 0 6.058e-05 rs553413159 1.20 D T B B N N N T N 0.087 T T T 0.133 0.329 0.346 0.409 T T T T T T 1.164 13.340 0.984 N N -0.513 1.151 -0.490 1.218 0.007 0.615 0.574 0.659 0.530 . 5.930 2.840 0.183 -0.304 -0.104 0.000 0.029 0.230 917 Pleckstrin_homology_domain . . ID=COSV54128496;OCCURENCE=1(large_intestine) RASGRF2 298 2 389 33 0.0781990521327014 TRUE TRUE ENSG00000113319.13 . BCM GRCh38.p13 chr5 81113905 81113905 + C C T Nonsense_Mutation SNP ENST00000265080.9 exon15 c.C2455T p.R819X exonic ENSG00000113319.13 . stopgain ENSG00000113319.13:ENST00000265080.9:exon15:c.C2455T:p.R819X 5q14.1 C3N-04119 . . . . . . . . . 5.6 . . . . N A . . . 0.922 . . . . . . . . . D D . . 8.035 40 0.996 D D 0.525 5.233 0.298 3.708 0.010 0.615 0.590 0.659 0.586 . 4.940 3.000 1.464 1.026 0.599 1.000 0.650 0.104 889 Ras-like_guanine_nucleotide_exchange_factor,_N-terminal . . ID=COSV54122570;OCCURENCE=3(oesophagus),1(central_nervous_system),1(biliary_tract) RASGRF2 124 0 180 30 0.142857142857143 TRUE TRUE ENSG00000120729.10 . BCM GRCh38.p13 chr5 137887257 137887257 + C C T Nonsense_Mutation SNP ENST00000239926.9 exon10 c.C1369T p.R457X exonic ENSG00000120729.10 . stopgain ENSG00000120729.10:ENST00000239926.9:exon10:c.C1369T:p.R457X 5q31.2 C3N-04119 . . . . . . . . . 4.6 . . . . N D . . . 0.945 . . . . . . . . . D D . . 7.355 37 0.996 D N 0.652 6.498 0.512 5.269 1.000 0.487 0.542 0.574 0.564 . 5.810 3.990 3.072 1.026 0.549 1.000 1.000 0.998 138 . . . ID=COSV99295896;OCCURENCE=2(urinary_tract) MYOT 354 0 329 34 0.09366391184573 TRUE TRUE ENSG00000253953.2 . BCM GRCh38.p13 chr5 141390040 141390040 + C C G Missense_Mutation SNP ENST00000519479.1 exon1 c.C2156G p.P719R exonic ENSG00000253953.2 . nonsynonymous SNV ENSG00000253953.2:ENST00000519479.1:exon1:c.C2156G:p.P719R 5q31.3 C3N-04119 . . . . . . . . . 4.18 D D B B . N M T D 0.161 T T T 0.016 0.395 0.183 . . T T T T T 1.253 14.050 0.901 N N -0.814 0.634 -0.844 0.697 0.872 0.549 0.588 0.693 0.616 . 5.850 1.680 0.315 0.047 0.449 0.000 0.002 0.045 764 Cadherin,_cytoplasmic_C-terminal_domain . . . PCDHGB4 344 0 497 60 0.107719928186715 TRUE TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152416423 152416423 + C C T Missense_Mutation SNP ENST00000367255.10 exon41 c.G6014A p.R2005Q exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon41:c.G6014A:p.R2005Q 6q25.2 C3N-04119 . . . . . . . . . 0.20 T T B B N N L T N 0.151 T T T 0.032 0.287 0.203 0.154 T T T T T T 0.602 7.532 0.632 N N -0.820 0.626 -0.819 0.731 0.000 0.487 0.574 0.574 0.564 . 5.970 3.010 0.933 -0.236 -0.175 0.040 0.000 0.004 869 . . . . SYNE1 393 0 383 43 0.10093896713615 TRUE TRUE ENSG00000105983.22 . BCM GRCh38.p13 chr7 156688177 156688177 + C C G Missense_Mutation SNP ENST00000353442.10 exon16 c.G1240C p.D414H exonic ENSG00000105983.22 . nonsynonymous SNV ENSG00000105983.22:ENST00000353442.10:exon16:c.G1240C:p.D414H 7q36.3 C3N-04119 . . . . . . . . . 14.20 D D P P D D M T D 0.991 T T D 0.660 0.958 0.805 0.835 D T D D D D 3.820 25.900 0.996 D D 0.794 8.666 0.784 9.676 1.000 0.732 0.744 0.710 0.728 . 5.510 5.510 7.624 1.022 0.596 1.000 1.000 0.997 945 . . . . LMBR1 63 0 92 7 0.0707070707070707 TRUE TRUE ENSG00000275591.5 . BCM GRCh38.p13 chr8 6823723 6823723 + G G T Missense_Mutation SNP ENST00000618742.3 exon4 c.C435A p.S145R exonic ENSG00000275591.5 . nonsynonymous SNV ENSG00000275591.5:ENST00000618742.3:exon4:c.C435A:p.S145R 8p23.1 C3N-04119 . . . . . . . . . 5.9 . D D D . . . . . 0.756 . . . . . 0.465 . T T D D . T 0.464 6.124 0.607 N . . . . . 0.999 0.162 0.060 0.175 0.059 0.085 4.640 -4.540 -0.355 -0.984 -0.946 0.066 0.000 0.031 994 . . . . XKR5 290 3 390 21 0.0510948905109489 NA TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971168 21971168 + A A G Missense_Mutation SNP ENST00000304494.9 exon2 c.T191C p.L64P exonic ENSG00000147889.17 . nonsynonymous SNV ENSG00000147889.17:ENST00000304494.9:exon2:c.T191C:p.L64P 9p21.3 C3N-04119 . . . . . . . . . 16.18 D D D D . D . T D 0.922 D D D 0.899 0.733 0.956 1.566 T D D D D D 4.503 32 0.999 D D 0.687 6.945 0.678 7.367 1.000 0.677 0.383 0.608 0.601 . 5.790 5.790 8.610 1.312 0.756 1.000 0.249 0.876 900 Ankyrin_repeat-containing_domain . . ID=COSV58729783;OCCURENCE=2(breast),1(ovary) CDKN2A 640 0 801 94 0.105027932960894 NA TRUE ENSG00000136826.15 . BCM GRCh38.p13 chr9 107485858 107485858 + T T A Missense_Mutation SNP ENST00000374672.5 exon5 c.A1333T p.R445W exonic ENSG00000136826.15 . nonsynonymous SNV ENSG00000136826.15:ENST00000374672.5:exon5:c.A1333T:p.R445W 9q31.2 C3N-04119 . . . . . . . . . 14.19 D D D D N D . T D 0.815 T T D 0.397 . 0.803 2.555 D D D D D T 4.419 31 0.999 D D 0.337 3.974 0.302 3.729 1.000 0.653 0.590 0.659 0.669 . 5.820 2.210 5.310 1.138 0.665 1.000 1.000 0.998 744 Zinc_finger_C2H2-type . . . KLF4 252 1 341 37 0.0978835978835979 TRUE TRUE ENSG00000148843.15 . BCM GRCh38.p13 chr10 103425116 103425116 + G G T Missense_Mutation SNP ENST00000369797.8 exon20 c.G2896T p.D966Y exonic ENSG00000148843.15 . nonsynonymous SNV ENSG00000148843.15:ENST00000369797.8:exon20:c.G2896T:p.D966Y 10q24.33 C3N-04119 . . . . . . . . . 12.20 D D D D D D L T D 0.648 T T T 0.502 0.800 0.512 0.864 T T D T D D 4.266 29.300 0.995 D D 0.742 7.753 0.785 9.687 1.000 0.719 0.702 0.723 0.714 . 5.650 5.650 9.082 1.176 0.618 1.000 1.000 0.995 217 . . . . PDCD11 351 0 585 57 0.088785046728972 TRUE TRUE ENSG00000171811.14 . BCM GRCh38.p13 chr10 132899547 132899547 + G G A Missense_Mutation SNP ENST00000368586.10 exon23 c.C3044T p.T1015M exonic ENSG00000171811.14 . nonsynonymous SNV ENSG00000171811.14:ENST00000368586.10:exon23:c.C3044T:p.T1015M 10q26.3 C3N-04119 . . . . . . . . rs898358192 2.16 D T . . . N . T N 0.079 T T D 0.069 0.234 0.040 0.114 T T T T T T 0.497 6.473 0.864 N N -1.127 0.283 -1.207 0.277 0.000 0.487 0.574 0.547 0.542 . 3.720 -0.431 0.406 0.233 -0.105 0.000 0.025 0.049 994 . . . . CFAP46 116 0 181 23 0.112745098039216 TRUE NA ENSG00000186119.8 . BCM GRCh38.p13 chr11 55819794 55819794 + A A T Missense_Mutation SNP ENST00000333976.6 exon1 c.A165T p.K55N exonic ENSG00000186119.8 . nonsynonymous SNV ENSG00000186119.8:ENST00000333976.6:exon1:c.A165T:p.K55N 11q12.1 C3N-04119 . . . . . . . . . 4.20 D D B B D N N T D 0.083 T T T 0.034 0.400 0.245 0.101 T T T T T T 0.727 8.702 0.983 N N -1.064 0.339 -1.088 0.388 0.000 0.487 0.574 0.574 0.564 . 4.940 -3.660 -4.848 -0.224 -0.101 0.000 0.056 0.767 156 GPCR,_rhodopsin-like,_7TM . . . OR5D18 129 0 145 10 0.0645161290322581 TRUE TRUE ENSG00000173039.19 . BCM GRCh38.p13 chr11 65659770 65659770 + T T C Missense_Mutation SNP ENST00000406246.8 exon6 c.A455G p.Y152C exonic ENSG00000173039.19 . nonsynonymous SNV ENSG00000173039.19:ENST00000406246.8:exon6:c.A455G:p.Y152C 11q13.1 C3N-04119 . . . . . . . . . 10.20 D T D D D D L T N 0.679 T T D 0.193 0.594 0.440 2.699 T T T T D D 3.458 24.600 0.984 D D 0.177 3.202 0.201 3.189 1.000 0.672 0.702 0.702 0.711 . 4.710 4.710 2.812 1.138 0.665 0.997 0.996 0.935 281 Rel_homology_domain_(RHD),_DNA-binding_domain . . . RELA 109 0 192 25 0.115207373271889 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-04119 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 298 0 285 37 0.114906832298137 TRUE TRUE ENSG00000135476.12 . BCM GRCh38.p13 chr12 53286904 53286904 + C C T Missense_Mutation SNP ENST00000257934.9 exon18 c.C4168T p.R1390C exonic ENSG00000135476.12 . nonsynonymous SNV ENSG00000135476.12:ENST00000257934.9:exon18:c.C4168T:p.R1390C 12q13.13 C3N-04119 . . . . . . . . rs149944800 14.20 D D D D D D M T D 0.718 T T D 0.196 . 0.482 0.996 T D T T D D 4.182 28.500 0.999 D D 0.576 5.692 0.496 5.124 1.000 0.672 0.702 0.644 0.636 . 5.080 5.080 4.496 1.022 0.596 0.992 0.876 0.963 706 . . . . ESPL1 41 0 81 10 0.10989010989011 TRUE NA ENSG00000140678.17 . BCM GRCh38.p13 chr16 31380296 31380296 + C C T Missense_Mutation SNP ENST00000268296.9 exon27 c.C3091T p.R1031C exonic ENSG00000140678.17 . nonsynonymous SNV ENSG00000140678.17:ENST00000268296.9:exon27:c.C3091T:p.R1031C 16p11.2 C3N-04119 6.734e-05 0.0002 0.0002 0 0 0 0 0.0002 rs377108919 8.19 D D D D . N M T D 0.170 T T T 0.146 . 0.746 0.850 T D T T D T 1.629 16.560 0.999 N N 0.060 2.732 -0.102 2.042 0.000 0.706 0.710 0.547 0.568 . 4.700 1.410 -0.140 -0.280 0.549 0.000 0.535 0.912 394 . . . ID=COSV51641830;OCCURENCE=1(large_intestine),1(stomach) ITGAX 325 0 465 50 0.0970873786407767 NA TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674957 7674957 + G G A Nonsense_Mutation SNP ENST00000269305.8 exon6 c.C574T p.Q192X exonic ENSG00000141510.17 . stopgain ENSG00000141510.17:ENST00000269305.8:exon6:c.C574T:p.Q192X 17p13.1 C3N-04119 . . . . . . . . rs866380588 5.6 . . . . D A . . . 0.927 . . . . . . . . . D D . . 7.987 40 0.994 D N 0.694 7.042 0.457 4.792 0.807 0.722 0.698 0.702 0.735 . 5.410 3.360 3.131 1.176 0.676 1.000 0.999 0.979 433 p53,_DNA-binding_domain . . ID=COSV52660737;OCCURENCE=34(breast),7(liver),12(oesophagus),2(cervix),1(placenta),12(large_intestine),1(central_nervous_system),4(biliary_tract),16(ovary),1(NS),7(haematopoietic_and_lymphoid_tissue),5(stomach),2(kidney),15(urinary_tract),5(pancreas),8(skin),1(prostate),17(lung),4(thyroid),13(upper_aerodigestive_tract),1(eye),2(endometrium) TP53 481 0 623 86 0.1212976022567 TRUE TRUE ENSG00000172716.16 . BCM GRCh38.p13 chr17 35363623 35363623 + C C T Missense_Mutation SNP ENST00000394566.5 exon4 c.G185A p.R62Q exonic ENSG00000172716.16 . nonsynonymous SNV ENSG00000172716.16:ENST00000394566.5:exon4:c.G185A:p.R62Q 17q12 C3N-04119 . . . . . . . . . 0.20 T T B B N N L T N 0.040 T T T 0.028 0.415 0.040 0.086 T T T T T T 0.345 4.808 0.921 N N -1.240 0.200 -1.275 0.226 0.999 0.707 0.634 0.547 0.714 . 3.850 -5.140 0.259 -1.148 -0.171 0.000 0.001 0.710 581 . . . . SLFN11 130 0 194 21 0.0976744186046512 TRUE NA ENSG00000177303.10 . BCM GRCh38.p13 chr17 75501841 75501841 + C C T Missense_Mutation SNP ENST00000321617.8 exon18 c.G3233A p.R1078Q exonic ENSG00000177303.10 . nonsynonymous SNV ENSG00000177303.10:ENST00000321617.8:exon18:c.G3233A:p.R1078Q 17q25.1 C3N-04119 2.789e-05 0.0001 0 0 0 1.62e-05 0 0.0001 rs766946055 1.20 T T B B N N N T N 0.082 T T D 0.040 . 0.337 0.153 T T T T T T -0.410 0.183 0.588 N N -1.562 0.064 -1.553 0.089 1.000 0.635 0.551 0.644 0.636 . 4.900 -2.320 -1.601 -0.697 -0.916 0.000 0.000 0.000 976 . . . . CASKIN2 25 0 55 9 0.140625 TRUE NA ENSG00000141646.14 . BCM GRCh38.p13 chr18 51058402 51058402 + C C T Nonsense_Mutation SNP ENST00000342988.8 exon7 c.C850T p.Q284X exonic ENSG00000141646.14 . stopgain ENSG00000141646.14:ENST00000342988.8:exon7:c.C850T:p.Q284X 18q21.2 C3N-04119 . . . . . . . . . 4.6 . . . . N D . . . 0.982 . . . . . . . . . D D . . 6.756 36 0.998 D N 0.984 13.420 0.888 13.256 1.000 0.707 0.725 0.725 0.714 . 6.170 6.170 4.416 1.026 0.599 1.000 1.000 1.000 669 . . . ID=COSV61693823;OCCURENCE=1(pancreas) SMAD4 504 0 509 71 0.122413793103448 TRUE TRUE ENSG00000142449.13 . BCM GRCh38.p13 chr19 8126314 8126314 + G G A Missense_Mutation SNP ENST00000600128.6 exon21 c.C2588T p.T863M exonic ENSG00000142449.13 . nonsynonymous SNV ENSG00000142449.13:ENST00000600128.6:exon21:c.C2588T:p.T863M 19p13.2 C3N-04119 0.0002 0.0007 0 0.0013 0 8.412e-05 0 0 rs139953945 2.20 D T B B U N L D N 0.111 T T T 0.180 . 0.498 0.201 T T T T T T 0.421 5.663 0.837 N N -1.417 0.110 -1.537 0.095 0.045 0.707 0.574 0.725 0.613 . 2.930 -2.880 0.362 -1.022 -0.834 0.001 0.007 0.001 934 . . . . FBN3 242 0 411 32 0.072234762979684 TRUE NA ENSG00000182584.6 . BCM GRCh38.p13 chr20 33667936 33667936 + G G A Missense_Mutation SNP ENST00000330271.6 exon1 c.G439A p.A147T exonic ENSG00000182584.6 . nonsynonymous SNV ENSG00000182584.6:ENST00000330271.6:exon1:c.G439A:p.A147T 20q11.22 C3N-04119 . . . . . . . . . 9.20 T T P P D D L D N 0.422 D D D 0.461 0.530 0.630 0.870 T T D D D T 3.134 23.700 0.998 N N -0.060 2.306 -0.146 1.921 1.000 0.437 0.219 0.607 0.250 . 4.970 3.950 3.233 1.101 0.590 0.920 0.047 0.017 117 . . . . ACTL10 198 0 345 31 0.0824468085106383 TRUE TRUE ENSG00000182798.10 . BCM GRCh38.p13 chrX 16170836 16170836 + C C T Missense_Mutation SNP ENST00000400004.6 exon2 c.C454T p.R152W exonic ENSG00000182798.10 . nonsynonymous SNV ENSG00000182798.10:ENST00000400004.6:exon2:c.C454T:p.R152W Xp22.2 C3N-04119 . . . . . . . . . 4.17 D D . . N N M T D 0.268 T T T 0.051 . 0.048 0.768 T T T T T T 1.832 17.970 0.992 N . . . . . 0.823 . . . . . 2.410 -4.360 -0.471 -0.783 -0.224 0.000 0.000 0.002 416 MAGE_homology_domain . . . MAGEB17 79 1 113 35 0.236486486486486 TRUE NA ENSG00000080371.6 . BCM GRCh38.p13 chr12 71770590 71770590 + A A C Splice_Site SNP NA NA NA NA splicing ENSG00000080371.6 ENST00000261263.5:exon3:c.220-2A>C . . 12q21.1 C3N-04119 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.871 35 0.988 D . 1.026 14.760 0.848 11.697 0.999 0.295 0.304 0.175 0.221 0.891 5.210 4.070 8.771 1.312 0.750 1.000 0.984 0.908 813 . . . . RAB21 232 1 201 11 0.0518867924528302 TRUE TRUE ENSG00000103319.12 . BCM GRCh38.p13 chr16 22260461 22260461 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000103319.12 ENST00000263026.10:exon11:c.1232-1G>C . . 16p12.2 C3N-04119 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.442 34 0.995 D . 1.164 20.946 1.020 20.090 0.984 0.295 0.304 0.126 0.118 0.983 5.650 5.650 6.173 1.176 0.676 1.000 0.988 0.890 553 . . . ID=COSV99533736;OCCURENCE=1(upper_aerodigestive_tract) EEF2K 259 0 404 43 0.0961968680089485 TRUE TRUE ENSG00000142765.18 . BCM GRCh38.p13 chr1 27351547 27351547 + C C T Silent SNP ENST00000616558.5 exon13 c.C1335T p.Y445Y exonic ENSG00000142765.18 . synonymous SNV ENSG00000142765.18:ENST00000616558.5:exon13:c.C1335T:p.Y445Y 1p36.11 C3N-04119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYTL1 91 0 128 23 0.152317880794702 TRUE NA ENSG00000126705.15 . BCM GRCh38.p13 chr1 27551243 27551243 + G G A Silent SNP ENST00000673934.1 exon8 c.C873T p.L291L exonic ENSG00000126705.15 . synonymous SNV ENSG00000126705.15:ENST00000673934.1:exon8:c.C873T:p.L291L 1p36.11 C3N-04119 1.847e-05 0 0 0 0 1.687e-05 0 6.238e-05 rs758776352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHDC1 126 0 250 32 0.113475177304965 TRUE NA ENSG00000175077.6 . BCM GRCh38.p13 chr3 187199806 187199806 + C C T Silent SNP ENST00000312295.5 exon2 c.C528T p.H176H exonic ENSG00000175077.6 . synonymous SNV ENSG00000175077.6:ENST00000312295.5:exon2:c.C528T:p.H176H 3q27.3 C3N-04119 8.601e-06 0 0 0 0 1.572e-05 0 0 rs368637643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RTP1 148 0 220 14 0.0598290598290598 TRUE NA ENSG00000153395.10 . BCM GRCh38.p13 chr5 1474026 1474026 + C C T Silent SNP ENST00000283415.4 exon11 c.G1110A p.A370A exonic ENSG00000153395.10 . synonymous SNV ENSG00000153395.10:ENST00000283415.4:exon11:c.G1110A:p.A370A 5p15.33 C3N-04119 1.648e-05 0 0 0 0 1.499e-05 0 6.058e-05 rs756860780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99358646;OCCURENCE=1(endometrium) LPCAT1 316 0 481 56 0.104283054003724 TRUE NA ENSG00000145832.14 . BCM GRCh38.p13 chr5 135842441 135842441 + C C T Silent SNP ENST00000433282.6 exon2 c.C72T p.H24H exonic ENSG00000145832.14 . synonymous SNV ENSG00000145832.14:ENST00000433282.6:exon2:c.C72T:p.H24H 5q31.1 C3N-04119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A48 170 0 302 27 0.0820668693009119 TRUE TRUE ENSG00000169436.17 . BCM GRCh38.p13 chr8 138694826 138694826 + C C T Silent SNP ENST00000303045.11 exon33 c.G2646A p.P882P exonic ENSG00000169436.17 . synonymous SNV ENSG00000169436.17:ENST00000303045.11:exon33:c.G2646A:p.P882P 8q24.23 C3N-04119 2.49e-05 0 0 0 0 3.01e-05 0 6.231e-05 rs756859195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57346815;OCCURENCE=1(large_intestine),1(urinary_tract) COL22A1 196 0 329 54 0.140992167101828 TRUE TRUE ENSG00000109927.10 . BCM GRCh38.p13 chr11 121146022 121146022 + G G A Silent SNP ENST00000392793.5 exon12 c.G4011A p.A1337A exonic ENSG00000109927.10 . synonymous SNV ENSG00000109927.10:ENST00000392793.5:exon12:c.G4011A:p.A1337A 11q23.3 C3N-04119 0.0018 0.0195 0.0005 0 0 9.229e-05 0.0022 6.083e-05 rs144441070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50749983;OCCURENCE=1(large_intestine),1(stomach) TECTA 402 0 611 75 0.10932944606414 TRUE TRUE ENSG00000133110.15 . BCM GRCh38.p13 chr13 37580644 37580644 + G G A Silent SNP ENST00000379747.9 exon11 c.C1446T p.N482N exonic ENSG00000133110.15 . synonymous SNV ENSG00000133110.15:ENST00000379747.9:exon11:c.C1446T:p.N482N 13q13.3 C3N-04119 8.237e-06 9.61e-05 0 0 0 0 0 0 rs147888983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65713279;OCCURENCE=1(large_intestine),1(central_nervous_system),1(ovary),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(lung) POSTN 292 0 309 24 0.0720720720720721 TRUE TRUE ENSG00000134897.14 . BCM GRCh38.p13 chr13 102816529 102816529 + C C A Silent SNP ENST00000257336.6 exon4 c.C580A p.R194R exonic ENSG00000134897.14;ENSG00000270181.3 . synonymous SNV ENSG00000134897.14:ENST00000257336.6:exon4:c.C580A:p.R194R,ENSG00000270181.3:ENST00000639435.1:exon4:c.C580A:p.R194R 13q33.1 C3N-04119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BIVM 87 0 83 6 0.0674157303370786 TRUE NA ENSG00000169992.10 . BCM GRCh38.p13 chr17 7417484 7417484 + C C T Silent SNP ENST00000302926.7 exon7 c.C2193T p.A731A exonic ENSG00000169992.10 . synonymous SNV ENSG00000169992.10:ENST00000302926.7:exon7:c.C2193T:p.A731A 17p13.1 C3N-04119 0 0 0 0 0 0 0 0 rs775547220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLGN2 76 0 87 13 0.13 TRUE NA ENSG00000136488.15 . BCM GRCh38.p13 chr17 63895208 63895208 + G G A Silent SNP ENST00000316193.13 exon5 c.C468T p.D156D exonic ENSG00000136488.15 . synonymous SNV ENSG00000136488.15:ENST00000316193.13:exon5:c.C468T:p.D156D 17q23.3 C3N-04119 8.358e-06 0 0 0 0 0 0 6.058e-05 rs369347327 3.17 T T B B . D . D N 0.169 T T D 0.334 . 0.284 . . T T T T T -0.732 0.037 0.087 N N -1.625 0.050 -1.714 0.048 0.001 0.497 0.590 0.547 0.542 . 2.560 -5.120 -2.872 0.214 -1.487 0.000 0.470 0.008 863 . . . ID=COSV60242801;OCCURENCE=1(liver),1(oesophagus),1(skin) CSH1 506 0 711 81 0.102272727272727 NA TRUE ENSG00000198795.11 . BCM GRCh38.p13 chr18 25224486 25224486 + G G A Silent SNP ENST00000361524.8 exon4 c.C3432T p.N1144N exonic ENSG00000198795.11 . synonymous SNV ENSG00000198795.11:ENST00000361524.8:exon4:c.C3432T:p.N1144N 18q11.2 C3N-04119 . . . . . . . . rs1011241462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64130709;OCCURENCE=1(large_intestine) ZNF521 189 0 251 35 0.122377622377622 TRUE TRUE ENSG00000142303.14 . BCM GRCh38.p13 chr19 8605096 8605096 + C C T Silent SNP ENST00000597188.6 exon4 c.G351A p.A117A exonic ENSG00000142303.14 . synonymous SNV ENSG00000142303.14:ENST00000597188.6:exon4:c.G351A:p.A117A 19p13.2 C3N-04119 0.0004 0.0051 0 0 0 1.667e-05 0 0 rs114628276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99547070;OCCURENCE=1(lung) ADAMTS10 225 0 325 43 0.116847826086957 TRUE NA ENSG00000125966.10 . BCM GRCh38.p13 chr20 35246947 35246947 + C C T Silent SNP ENST00000246186.8 exon2 c.C354T p.Y118Y exonic ENSG00000125966.10 . synonymous SNV ENSG00000125966.10:ENST00000246186.8:exon2:c.C354T:p.Y118Y 20q11.22 C3N-04119 2.484e-05 0 0 0.0001 0 2.997e-05 0 0 rs201429856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP24 276 0 437 53 0.108163265306122 TRUE NA ENSG00000149658.18 . BCM GRCh38.p13 chr20 63202866 63202866 + A A G Silent SNP ENST00000370339.8 exon4 c.T1074C p.S358S exonic ENSG00000149658.18 . synonymous SNV ENSG00000149658.18:ENST00000370339.8:exon4:c.T1074C:p.S358S 20q13.33 C3N-04119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YTHDF1 319 0 513 61 0.106271777003484 TRUE TRUE ENSG00000156299.13 . BCM GRCh38.p13 chr21 31245632 31245632 + G G A Silent SNP ENST00000286827.7 exon7 c.C1440T p.D480D exonic ENSG00000156299.13 . synonymous SNV ENSG00000156299.13:ENST00000286827.7:exon7:c.C1440T:p.D480D 21q22.11 C3N-04119 9.437e-05 0 0 0.0008 0 3.079e-05 0 0.0001 rs745535556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54545301;OCCURENCE=1(large_intestine),1(stomach) TIAM1 69 0 98 16 0.140350877192982 TRUE TRUE ENSG00000156299.13 . BCM GRCh38.p13 chr21 31266841 31266841 + C C T Silent SNP ENST00000286827.7 exon5 c.G132A p.S44S exonic ENSG00000156299.13 . synonymous SNV ENSG00000156299.13:ENST00000286827.7:exon5:c.G132A:p.S44S 21q22.11 C3N-04119 0.0006 0.0002 0.0003 0 0.0018 0.0007 0.0011 0.0002 rs142183230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TIAM1 269 0 426 33 0.0718954248366013 TRUE NA ENSG00000130487.9 . BCM GRCh38.p13 chr22 50549126 50549126 + G G T Silent SNP ENST00000395676.4 exon1 c.G960T p.A320A exonic ENSG00000130487.9 . synonymous SNV ENSG00000130487.9:ENST00000395676.4:exon1:c.G960T:p.A320A 22q13.33 C3N-04119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHDC7B 220 0 326 39 0.106849315068493 TRUE TRUE ENSG00000198453.13 . BCM GRCh38.p13 chr19 36997123 36997123 + C C T IGR SNP NA NA NA NA intergenic ENSG00000198453.13;ENSG00000275547.1 dist=44389;dist=27763 . . 19q13.12 C3N-04119 0.0002 0 0 0.0013 0 0.0002 0 0 rs752008255 2.15 D D . . . N . T N 0.160 T T T 0.107 0.614 0.473 . . T T T T T 1.755 17.410 0.912 N N -1.056 0.347 -1.079 0.398 0.003 0.554 0.574 0.618 0.621 . 3.740 0.165 2.240 0.066 -0.998 0.005 0.001 0.000 662 Zinc_finger_C2H2-type . . . ZNF568 163 0 167 36 0.177339901477833 TRUE NA ENSG00000121904.17 . BCM GRCh38.p13 chr1 33541174 33541174 + C C A Missense_Mutation SNP ENST00000373388.6 exon58 c.G8981T p.C2994F exonic ENSG00000121904.17 . nonsynonymous SNV ENSG00000121904.17:ENST00000373388.6:exon58:c.G8981T:p.C2994F 1p35.1 C3L-02899 . . . . . . . . . 18.20 D D D D D D H D D 0.958 D D D 0.918 0.970 0.925 . T T D D D D 3.969 26.800 0.991 D D 1.060 15.933 0.954 16.251 1.000 0.615 0.574 0.659 0.564 . 5.580 5.580 7.844 0.947 0.599 1.000 1.000 0.999 416 Sushi/SCR/CCP_domain . . . CSMD2 156 0 154 24 0.134831460674157 TRUE TRUE ENSG00000158859.10 . BCM GRCh38.p13 chr1 161196738 161196738 + C C T Missense_Mutation SNP ENST00000367996.6 exon2 c.G776A p.R259H exonic ENSG00000158859.10 . nonsynonymous SNV ENSG00000158859.10:ENST00000367996.6:exon2:c.G776A:p.R259H 1q23.3 C3L-02899 . . . . . . . . . 6.20 T D P B N D L D N 0.098 T T T 0.202 . 0.767 0.721 T T T T D D 2.683 22.800 0.997 D N 0.069 2.765 0.225 3.307 1.000 0.757 0.547 0.858 0.662 . 5.090 5.090 3.213 1.023 0.599 0.997 1.000 0.999 404 Peptidase_M12B,_ADAM/reprolysin . . ID=COSV100917463;OCCURENCE=1(lung) ADAMTS4 415 1 315 42 0.117647058823529 TRUE NA ENSG00000143847.15 . BCM GRCh38.p13 chr1 203056857 203056857 + C C T Missense_Mutation SNP ENST00000447715.6 exon24 c.C2248T p.R750C exonic ENSG00000143847.15 . nonsynonymous SNV ENSG00000143847.15:ENST00000447715.6:exon24:c.C2248T:p.R750C 1q32.1 C3L-02899 8.333e-06 0 0 0 0 0 0 6.099e-05 rs750034692 13.20 D D D D D D M T D 0.389 T T D 0.205 - 0.702 1.319 T T T T D D 3.574 25.000 0.999 D D 0.472 4.825 0.520 5.347 1.000 0.696 0.695 0.692 0.584 . 5.190 5.190 4.440 1.026 0.597 1.000 1.000 0.997 824 . . . . PPFIA4 388 0 398 37 0.0850574712643678 TRUE NA ENSG00000066032.18 . BCM GRCh38.p13 chr2 79909792 79909792 + A A C Missense_Mutation SNP ENST00000402739.8 exon6 c.A1051C p.N351H exonic ENSG00000066032.18 . nonsynonymous SNV ENSG00000066032.18:ENST00000402739.8:exon6:c.A1051C:p.N351H 2p12 C3L-02899 . . . . . . . . . 9.20 D T D P N D L T D 0.449 T T D 0.120 0.460 0.556 1.366 D T T T T D 3.311 24.200 0.997 D D 0.557 5.516 0.557 5.726 0.971 0.615 0.574 0.659 0.564 . 5.600 5.600 2.853 1.312 0.691 1.000 1.000 0.995 981 . . . ID=COSV63547281;OCCURENCE=1(ovary),1(soft_tissue),1(prostate),2(upper_aerodigestive_tract),1(endometrium) CTNNA2 156 4 110 46 0.294871794871795 TRUE NA ENSG00000158417.11 . BCM GRCh38.p13 chr2 99361371 99361371 + C C - Nonsense_Mutation SNP ENST00000289371.11 exon4 c.470delC p.S157* exonic ENSG00000158417.11 . stopgain ENSG00000158417.11:ENST00000289371.11:exon4:c.470delC:p.S157* 2q11.2 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF5B 137 0 113 19 0.143939393939394 TRUE TRUE ENSG00000163513.19 . BCM GRCh38.p13 chr3 30674136 30674136 + T T A Missense_Mutation SNP ENST00000295754.10 exon5 c.T1286A p.V429D exonic ENSG00000163513.19 . nonsynonymous SNV ENSG00000163513.19:ENST00000295754.10:exon5:c.T1286A:p.V429D 3p24.1 C3L-02899 . . . . . . . . . 19.20 D D D D D D M T D 0.960 D D D 0.902 0.837 0.994 1.884 D D D D D D 4.389 31 0.988 D D 0.966 12.889 0.917 14.498 1.000 0.722 0.590 0.725 0.735 . 6.020 6.020 8.017 1.138 0.663 1.000 0.998 1.000 925 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . TGFBR2 476 0 338 51 0.131105398457584 TRUE TRUE ENSG00000145242.13 . BCM GRCh38.p13 chr4 65335991 65335991 + C C A Missense_Mutation SNP ENST00000273854.7 exon16 c.G2793T p.M931I exonic ENSG00000145242.13 . nonsynonymous SNV ENSG00000145242.13:ENST00000273854.7:exon16:c.G2793T:p.M931I 4q13.1 C3L-02899 . . . . . . . . . 4.20 T T B B D D N T N 0.321 T T T 0.153 0.437 0.749 0.257 T T T T T D 1.626 16.540 0.737 D N -0.296 1.625 -0.019 2.296 0.178 0.554 0.574 0.574 0.621 . 6.170 6.170 0.987 1.008 0.599 1.000 0.997 0.984 953 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . EPHA5 151 0 116 21 0.153284671532847 TRUE TRUE ENSG00000003147.19 . BCM GRCh38.p13 chr7 8232613 8232613 + C C T Missense_Mutation SNP ENST00000402384.8 exon3 c.G160A p.A54T exonic ENSG00000003147.19 . nonsynonymous SNV ENSG00000003147.19:ENST00000402384.8:exon3:c.G160A:p.A54T 7p21.3 C3L-02899 1.778e-05 0 0 0.0001 0 0 0 6.921e-05 rs766630394 17.20 D D D D D D M T D 0.508 D D D 0.513 0.530 0.896 0.164 T D T D D D 3.275 24.100 0.999 D D 0.663 6.635 0.629 6.612 1.000 0.732 0.588 0.744 0.714 . 5.750 5.750 3.900 1.026 0.599 0.999 0.947 0.576 955 Arfaptin_homology_(AH)_domain . . . ICA1 74 0 84 14 0.142857142857143 TRUE NA ENSG00000164776.9 . BCM GRCh38.p13 chr7 56081196 56081196 + C C T Missense_Mutation SNP ENST00000297373.6 exon10 c.G1022A p.R341Q exonic ENSG00000164776.9 . nonsynonymous SNV ENSG00000164776.9:ENST00000297373.6:exon10:c.G1022A:p.R341Q 7p11.2 C3L-02899 2.486e-05 0 0 0 0 4.531e-05 0 0 rs763494578 6.20 D D D P N D L T N 0.355 T T T 0.073 0.464 0.720 0.251 T T T T T D 3.800 25.800 0.999 D N 0.082 2.815 0.064 2.593 0.266 0.660 0.380 0.696 0.528 . 5.020 1.720 2.690 1.026 0.599 1.000 1.000 0.992 629 . . . ID=COSV51914856;OCCURENCE=3(large_intestine) PHKG1 615 0 511 73 0.125 NA TRUE ENSG00000204983.14 . BCM GRCh38.p13 chr7 142751979 142751979 + G G A Missense_Mutation SNP ENST00000311737.12 exon3 c.G406A p.G136S exonic ENSG00000204983.14 . nonsynonymous SNV ENSG00000204983.14:ENST00000311737.12:exon3:c.G406A:p.G136S 7q34 C3L-02899 . . . . . . . . . 15.19 D D P B D D L D D 0.921 D D D 0.811 0.734 0.957 0.343 T D D D D . 2.987 23.400 0.997 D D 0.141 3.050 0.075 2.635 1.000 0.447 0.563 0.547 0.530 . 3.280 3.280 9.674 1.076 0.504 1.000 0.002 0.002 776 Serine_proteases,_trypsin_domain . . . PRSS1 465 0 412 48 0.104347826086957 TRUE TRUE ENSG00000036565.15 . BCM GRCh38.p13 chr8 20179349 20179356 + TTGTTGAA TTGTTGAA - Frame_Shift_Del DEL ENST00000276373.10 exon3 c.253_260del p.F85Qfs*6 exonic ENSG00000036565.15 . frameshift deletion ENSG00000036565.15:ENST00000276373.10:exon3:c.253_260del:p.F85Qfs*6 8p21.3 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC18A1 372 0 325 24 0.0687679083094556 TRUE TRUE ENSG00000197444.10 . BCM GRCh38.p13 chr10 49738235 49738235 + C C T Missense_Mutation SNP ENST00000374103.9 exon18 c.G2347A p.E783K exonic ENSG00000197444.10 . nonsynonymous SNV ENSG00000197444.10:ENST00000374103.9:exon18:c.G2347A:p.E783K 10q11.23 C3L-02899 . . . . . . . . . 20.20 D D D D D D H D D 0.992 D D D 0.882 0.911 0.923 0.757 D D D D D D 3.755 25.600 0.999 D D 0.840 9.609 0.659 7.043 1.000 0.696 0.844 0.723 0.568 . 4.840 3.870 6.112 1.012 0.583 1.000 0.504 0.302 900 Transketolase-like,_pyrimidine-binding_domain . . ID=COSV100934495;OCCURENCE=1(skin) OGDHL 292 0 246 35 0.124555160142349 TRUE NA ENSG00000122863.6 . BCM GRCh38.p13 chr10 72008425 72008425 + G G A Missense_Mutation SNP ENST00000373115.5 exon3 c.G1394A p.R465H exonic ENSG00000122863.6 . nonsynonymous SNV ENSG00000122863.6:ENST00000373115.5:exon3:c.G1394A:p.R465H 10q22.1 C3L-02899 . . . . . . . . rs569940449 14.20 T T D D D D M D N 0.304 D D D 0.510 0.420 0.994 1.857 T T D D D D 3.231 23.900 0.999 D N 0.536 5.330 0.529 5.434 1.000 0.646 0.547 0.645 0.636 . 5.270 5.270 2.423 1.176 0.676 1.000 0.946 0.738 724 . . . . CHST3 168 0 129 25 0.162337662337662 TRUE NA ENSG00000065613.15 . BCM GRCh38.p13 chr10 104008235 104008235 + C C A Missense_Mutation SNP ENST00000369755.4 exon12 c.C2663A p.T888N exonic ENSG00000065613.15 . nonsynonymous SNV ENSG00000065613.15:ENST00000369755.4:exon12:c.C2663A:p.T888N 10q25.1 C3L-02899 . . . . . . . . . 10.20 T T D D D D M T N 0.717 T T T 0.204 0.264 0.557 1.854 D T T T D D 3.549 24.900 0.995 D D 0.769 8.209 0.774 9.391 1.000 0.732 0.744 0.710 0.714 . 5.940 5.940 6.081 1.026 0.599 1.000 0.966 0.973 59 UVR_domain . . . SLK 197 0 177 30 0.144927536231884 TRUE TRUE ENSG00000151067.22 . BCM GRCh38.p13 chr12 2691038 2691038 + G G A Missense_Mutation SNP ENST00000399655.6 exon47 c.G6256A p.A2086T exonic ENSG00000151067.22 . nonsynonymous SNV ENSG00000151067.22:ENST00000399655.6:exon47:c.G6256A:p.A2086T 12p13.33 C3L-02899 1.601e-05 0 0 0 0 2.944e-05 0 0 rs763324710 1.18 T T B B N D . T N 0.118 T T T 0.036 . 0.438 0.184 T T T T T . 0.872 10.140 0.960 N N -0.739 0.748 -0.671 0.942 1.000 0.496 0.492 0.240 0.555 . 4.490 -0.671 0.245 1.160 0.599 0.001 0.977 0.989 861 Voltage-gated_calcium_channel_subunit_alpha,_C-terminal . . . CACNA1C 347 0 313 38 0.108262108262108 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-02899 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 317 0 345 49 0.124365482233503 TRUE TRUE ENSG00000139620.13 . BCM GRCh38.p13 chr12 48660588 48660588 + G G C Missense_Mutation SNP ENST00000420613.7 exon8 c.C1005G p.F335L exonic ENSG00000139620.13 . nonsynonymous SNV ENSG00000139620.13:ENST00000420613.7:exon8:c.C1005G:p.F335L 12q13.11 C3L-02899 . . . . . . . . . 14.20 D D D D D D M T D 0.979 T T D 0.579 0.831 0.741 1.206 T T D D D D 3.948 26.600 0.999 D N 0.700 7.119 0.676 7.319 0.996 0.707 0.702 0.725 0.714 . 5.640 5.640 2.699 1.172 0.614 1.000 1.000 0.995 363 Potential_DNA-binding_domain . . . KANSL2 295 0 200 28 0.12280701754386 TRUE TRUE ENSG00000176219.3 . BCM GRCh38.p13 chr14 20224659 20224659 + A A T Missense_Mutation SNP ENST00000315519.3 exon1 c.A950T p.D317V exonic ENSG00000176219.3 . nonsynonymous SNV ENSG00000176219.3:ENST00000315519.3:exon1:c.A950T:p.D317V 14q11.2 C3L-02899 . . . . . . . . . 1.20 T T B B N D N T N 0.171 T T T 0.042 0.356 0.365 0.079 T T T T T T 1.410 15.150 0.651 N N -0.809 0.642 -0.707 0.890 0.081 0.487 0.574 0.574 0.564 . 5.100 2.640 0.053 1.286 0.652 0.000 0.997 0.634 964 . . . . OR11H6 128 0 76 13 0.146067415730337 TRUE TRUE ENSG00000100813.14 . BCM GRCh38.p13 chr14 23078248 23078248 + C C A Nonsense_Mutation SNP ENST00000262710.5 exon8 c.G2200T p.E734X exonic ENSG00000100813.14 . stopgain ENSG00000100813.14:ENST00000262710.5:exon8:c.G2200T:p.E734X 14q11.2 C3L-02899 . . . . . . . . . 5.6 . . . . D A . . . 0.364 . . . . . . . . . D D . . 8.097 41 0.995 D N 1.027 14.790 0.892 13.394 1.000 0.707 0.702 0.725 0.635 . 5.990 5.100 2.193 1.026 0.599 1.000 1.000 1.000 807 . . . . ACIN1 278 1 265 43 0.13961038961039 TRUE TRUE ENSG00000100934.15 . BCM GRCh38.p13 chr14 39042866 39042866 + G G A Missense_Mutation SNP ENST00000307712.11 exon17 c.C1906T p.L636F exonic ENSG00000100934.15 . nonsynonymous SNV ENSG00000100934.15:ENST00000307712.11:exon17:c.C1906T:p.L636F 14q21.1 C3L-02899 0.0002 0 8.639e-05 0 0 0.0003 0 0 rs144656181 12.20 D D B B D D M T D 0.628 T T D 0.224 . 0.782 1.103 D T T T D D 3.763 25.700 0.999 D D 0.340 3.994 0.376 4.193 0.672 0.732 0.744 0.744 0.714 . 5.550 4.660 5.717 1.176 0.676 1.000 0.999 0.947 853 Gelsolin-like_domain;Sec23,_C-terminal . . . SEC23A 331 0 344 48 0.122448979591837 TRUE NA ENSG00000182400.15 . BCM GRCh38.p13 chr14 39151826 39151826 + G G A Missense_Mutation SNP ENST00000330149.10 exon5 c.C365T p.T122M exonic ENSG00000182400.15 . nonsynonymous SNV ENSG00000182400.15:ENST00000330149.10:exon5:c.C365T:p.T122M 14q21.1 C3L-02899 . . . . . . . . . 13.20 D D D P D D M T D 0.783 T T D 0.456 0.567 0.587 0.490 T T D T D D 4.630 32 0.999 D D 0.841 9.643 0.807 10.343 1.000 0.732 0.744 0.710 0.728 . 5.960 5.070 7.553 1.163 0.676 1.000 1.000 0.997 840 . . . . TRAPPC6B 135 0 157 20 0.112994350282486 TRUE NA ENSG00000028528.15 . BCM GRCh38.p13 chr15 64127237 64127237 + G G A Missense_Mutation SNP ENST00000559844.6 exon7 c.G716A p.R239K exonic ENSG00000028528.15 . nonsynonymous SNV ENSG00000028528.15:ENST00000559844.6:exon7:c.G716A:p.R239K 15q22.31 C3L-02899 . . . . . . . . . 16.20 D D D D D D M T D 0.912 T T T 0.437 0.705 0.657 0.795 D D D D D D 4.181 28.500 0.997 D D 0.913 11.390 0.867 12.399 1.000 0.732 0.725 0.744 0.714 . 4.970 4.970 9.529 1.176 0.676 1.000 0.992 0.983 307 Phox_homologous_domain;Sorting_Nexin_1,_PX_domain . . . SNX1 187 0 155 22 0.124293785310734 TRUE TRUE ENSG00000172824.16 . BCM GRCh38.p13 chr16 67000911 67000911 + G G C Missense_Mutation SNP ENST00000648724.2 exon4 c.G457C p.E153Q exonic ENSG00000172824.16 . nonsynonymous SNV ENSG00000172824.16:ENST00000648724.2:exon4:c.G457C:p.E153Q 16q22.1 C3L-02899 . . . . . . . . . 7.19 D D P P N N N T N 0.239 T T D 0.235 0.705 0.804 0.218 T . T T D D 2.316 21.700 0.996 D D -0.023 2.429 -0.014 2.310 1.000 0.658 0.707 0.504 0.604 . 4.880 3.910 1.632 0.044 0.657 0.859 0.002 0.005 164 Carboxylesterase,_type_B . . . CES4A 421 1 364 64 0.149532710280374 TRUE TRUE ENSG00000173826.14 . BCM GRCh38.p13 chr17 63524198 63524198 + G G A Missense_Mutation SNP ENST00000583023.1 exon2 c.G136A p.D46N exonic ENSG00000173826.14 . nonsynonymous SNV ENSG00000173826.14:ENST00000583023.1:exon2:c.G136A:p.D46N 17q23.3 C3L-02899 1.647e-05 0.0002 0 0 0 0 0 0 rs368030494 18.20 D D D D D D M D D 0.636 D D D 0.756 . 0.889 0.669 T D T D D D 4.117 27.900 0.938 D D 0.577 5.702 0.541 5.557 1.000 0.677 0.590 0.673 0.605 . 5.340 5.340 9.942 1.176 0.676 1.000 0.989 0.945 809 PAS_domain . . ID=COSV59001631;OCCURENCE=1(large_intestine),2(skin) KCNH6 425 0 530 31 0.0552584670231729 TRUE TRUE ENSG00000105404.11 . BCM GRCh38.p13 chr19 41959259 41959259 + C C A Nonsense_Mutation SNP ENST00000222008.11 exon1 c.G34T p.E12X exonic ENSG00000105404.11 . stopgain ENSG00000105404.11:ENST00000222008.11:exon1:c.G34T:p.E12X 19q13.2 C3L-02899 . . . . . . . . . 3.6 . . . . N A . . . 0.669 . . . . . . . . . D D . . 7.480 38 0.997 N N 0.564 5.574 0.332 3.910 1.000 0.442 0.522 0.522 0.562 . 4.170 3.120 1.584 1.022 0.596 0.040 0.997 0.988 846 . . . . RABAC1 458 0 366 46 0.111650485436893 TRUE TRUE ENSG00000160505.16 . BCM GRCh38.p13 chr19 55861542 55861542 + G G C Missense_Mutation SNP ENST00000301295.11 exon4 c.G2013C p.K671N exonic ENSG00000160505.16 . nonsynonymous SNV ENSG00000160505.16:ENST00000301295.11:exon4:c.G2013C:p.K671N 19q13.43 C3L-02899 . . . . . . . . . 3.19 T D B B . N N D D 0.104 T T T 0.118 0.389 0.549 0.049 T T T T T T 0.227 3.433 0.867 N N -1.363 0.133 -1.481 0.115 0.001 0.554 0.588 0.574 0.564 . 4.490 -6.220 -2.000 -0.434 -0.154 0.000 0.000 0.001 900 . . . . NLRP4 107 0 92 11 0.106796116504854 TRUE TRUE ENSG00000175556.17 . BCM GRCh38.p13 chrX 119009172 119009172 + T T G Missense_Mutation SNP ENST00000371628.8 exon7 c.T1577G p.L526R exonic ENSG00000175556.17 . nonsynonymous SNV ENSG00000175556.17:ENST00000371628.8:exon7:c.T1577G:p.L526R Xq24 C3L-02899 . . . . . . . . . 12.19 D D D D N N M T D 0.902 T T D 0.475 0.711 0.678 2.691 T T D D D D 3.956 26.700 0.998 D . . . . . 1.000 . . . . . 6.080 6.080 7.927 1.134 0.661 0.993 0.995 0.993 341 . . . . LONRF3 105 1 89 18 0.168224299065421 TRUE TRUE ENSG00000142606.16 . BCM GRCh38.p13 chr1 2592968 2592968 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000142606.16 ENST00000378412.8:exon20:c.1868-2A>T . . 1p36.32 C3L-02899 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.724 34 0.994 D . 1.032 14.957 0.860 12.140 1.000 0.116 0.061 0.074 0.110 0.897 4.760 4.760 7.746 1.138 0.665 1.000 0.996 0.936 835 . . . . MMEL1 148 0 124 10 0.0746268656716418 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673609 7673609 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon9:c.920-1G>T . . 17p13.1 C3L-02899 . . . . . . . . . 3.4 . . . . . D . . . . . . . . . . . . . D D . . 5.070 33 0.989 N . 0.655 6.536 0.401 4.363 0.991 0.284 0.279 0.341 0.120 0.809 4.710 4.710 1.455 1.022 0.596 1.000 0.691 0.574 435 . . . ID=COSV52664150;OCCURENCE=8(breast),6(liver),3(oesophagus),1(large_intestine),2(biliary_tract),1(stomach),1(skin),1(prostate),3(lung),1(upper_aerodigestive_tract) TP53 435 0 283 46 0.139817629179331 TRUE TRUE ENSG00000163531.15 . BCM GRCh38.p13 chr1 204970635 204970635 + C C T Silent SNP ENST00000339876.10 exon11 c.C1023T p.D341D exonic ENSG00000163531.15 . synonymous SNV ENSG00000163531.15:ENST00000339876.10:exon11:c.C1023T:p.D341D 1q32.1 C3L-02899 0.0061 0.0670 0.0022 0.0001 0 0.0001 0.0022 0.0003 rs6690894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFASC 257 0 215 26 0.107883817427386 TRUE NA ENSG00000144406.19 . BCM GRCh38.p13 chr2 209839222 209839222 + C C T Silent SNP ENST00000439458.5 exon19 c.C3042T p.H1014H exonic ENSG00000144406.19 . synonymous SNV ENSG00000144406.19:ENST00000439458.5:exon19:c.C3042T:p.H1014H 2q34 C3L-02899 4.796e-05 0.0005 0 0 0 0 0 0 rs572393115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99779565;OCCURENCE=1(large_intestine) UNC80 178 0 124 24 0.162162162162162 TRUE NA ENSG00000232382.2 . BCM GRCh38.p13 chr3 98470044 98470044 + C C T Silent SNP ENST00000642057.1 exon2 c.C468T p.S156S exonic ENSG00000232382.2 . synonymous SNV ENSG00000232382.2:ENST00000642057.1:exon2:c.C468T:p.S156S 3q11.2 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5K1 426 0 410 25 0.0574712643678161 NA TRUE ENSG00000204967.12 . BCM GRCh38.p13 chr5 140807208 140807208 + C C T Silent SNP ENST00000530339.2 exon1 c.C21T p.S7S exonic ENSG00000204967.12 . synonymous SNV ENSG00000204967.12:ENST00000530339.2:exon1:c.C21T:p.S7S 5q31.3 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHA4 256 0 162 13 0.0742857142857143 TRUE TRUE ENSG00000147647.13 . BCM GRCh38.p13 chr8 104466891 104466891 + G G A Silent SNP ENST00000351513.7 exon1 c.C30T p.R10R exonic ENSG00000147647.13 . synonymous SNV ENSG00000147647.13:ENST00000351513.7:exon1:c.C30T:p.R10R 8q22.3 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100680171;OCCURENCE=1(stomach) DPYS 215 0 203 14 0.0645161290322581 TRUE TRUE ENSG00000165238.16 . BCM GRCh38.p13 chr9 93259149 93259149 + G G A Silent SNP ENST00000297954.8 exon11 c.G2601A p.A867A exonic ENSG00000165238.16 . synonymous SNV ENSG00000165238.16:ENST00000297954.8:exon11:c.G2601A:p.A867A 9q22.31 C3L-02899 0.0002 0 0.0002 0 0 0.0003 0 0.0002 rs375757039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99944434;OCCURENCE=1(stomach) WNK2 236 0 200 32 0.137931034482759 TRUE NA ENSG00000110713.17 . BCM GRCh38.p13 chr11 3691445 3691445 + C C T Silent SNP ENST00000359171.8 exon28 c.G4407A p.S1469S exonic ENSG00000110713.17 . synonymous SNV ENSG00000110713.17:ENST00000359171.8:exon28:c.G4407A:p.S1469S 11p15.4 C3L-02899 5.768e-05 9.61e-05 0 0 0 1.499e-05 0 0.0003 rs373056120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUP98 314 0 352 46 0.115577889447236 TRUE NA ENSG00000141447.18 . BCM GRCh38.p13 chr18 24178174 24178174 + G G A Silent SNP ENST00000319481.8 exon21 c.C1932T p.L644L exonic ENSG00000141447.18 . synonymous SNV ENSG00000141447.18:ENST00000319481.8:exon21:c.C1932T:p.L644L 18q11.2 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OSBPL1A 95 0 90 11 0.108910891089109 TRUE TRUE ENSG00000010310.9 . BCM GRCh38.p13 chr19 45677050 45677050 + G G A Silent SNP ENST00000590918.6 exon8 c.G735A p.L245L exonic ENSG00000010310.9 . synonymous SNV ENSG00000010310.9:ENST00000590918.6:exon8:c.G735A:p.L245L 19q13.32 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GIPR 607 1 554 66 0.106451612903226 TRUE TRUE ENSG00000063244.12 . BCM GRCh38.p13 chr19 55655143 55655143 + G G A Silent SNP ENST00000308924.8 exon1 c.G39A p.E13E exonic ENSG00000063244.12 . synonymous SNV ENSG00000063244.12:ENST00000308924.8:exon1:c.G39A:p.E13E 19q13.42 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . U2AF2 373 0 317 51 0.138586956521739 TRUE NA ENSG00000125931.11 . BCM GRCh38.p13 chrX 72301831 72301831 + C C T Silent SNP ENST00000651998.1 exon3 c.G474A p.L158L exonic ENSG00000125931.11;ENSG00000285547.1 . synonymous SNV ENSG00000125931.11:ENST00000651998.1:exon3:c.G474A:p.L158L,ENSG00000285547.1:ENST00000648922.1:exon12:c.G1650A:p.L550L Xq13.1 C3L-02899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CITED1 217 0 143 36 0.201117318435754 TRUE NA ENSG00000174776.11 . BCM GRCh38.p13 chr3 167566877 167566877 + G G A Intron SNP NA NA NA NA intronic ENSG00000174776.11 . . . 3q26.1 C3L-02899 8.225e-05 0.0018 0 0 0 0 0 0 rs552286041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57701437;OCCURENCE=1(large_intestine),1(pancreas) WDR49 125 0 132 10 0.0704225352112676 TRUE NA ENSG00000157423.18 . BCM GRCh38.p13 chr16 71175828 71175828 + C C T Intron SNP NA NA NA NA intronic ENSG00000157423.18 . . . 16q22.2 C3L-02899 0.0160 0.0029 0.0087 0 0.0438 0.0223 0.0199 0.0009 rs12933249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HYDIN 194 0 151 13 0.0792682926829268 TRUE NA ENSG00000188157.15 . BCM GRCh38.p13 chr1 1041627 1041628 + TG TG - Frame_Shift_Del DEL ENST00000379370.7 exon6 c.1102_1103del p.V369Hfs*53 exonic ENSG00000188157.15 . frameshift deletion ENSG00000188157.15:ENST00000379370.7:exon6:c.1102_1103del:p.V369Hfs*53 1p36.33 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGRN 264 0 385 31 0.0745192307692308 TRUE TRUE ENSG00000159339.13 . BCM GRCh38.p13 chr1 17331024 17331024 + G G A Missense_Mutation SNP ENST00000375448.4 exon2 c.G148A p.V50M exonic ENSG00000159339.13 . nonsynonymous SNV ENSG00000159339.13:ENST00000375448.4:exon2:c.G148A:p.V50M 1p36.13 C3N-02971 4.123e-05 0 0 0 0 6.003e-05 0 6.058e-05 rs757370203 6.19 D D D P N N M T N 0.498 T T D 0.179 . 0.250 0.503 T T T T D . 2.049 19.630 0.997 N N 0.094 2.861 -0.096 2.059 0.107 0.554 0.610 0.618 0.542 . 5.320 4.170 0.351 0.228 -0.113 0.029 0.002 0.001 632 Protein-arginine_deiminase_(PAD)_N-terminal . . ID=COSV100966759;OCCURENCE=1(central_nervous_system) PADI4 150 0 252 15 0.0561797752808989 TRUE NA ENSG00000198758.10 . BCM GRCh38.p13 chr1 109757857 109757857 + G G A Missense_Mutation SNP ENST00000361965.8 exon10 c.C839T p.T280I exonic ENSG00000198758.10 . nonsynonymous SNV ENSG00000198758.10:ENST00000361965.8:exon10:c.C839T:p.T280I 1p13.3 C3N-02971 . . . . . . . . . 4.20 D T D P N N L T D 0.505 T T T 0.121 0.377 0.751 0.452 T T T T D T 2.627 22.700 0.995 N N -0.291 1.635 -0.367 1.432 0.954 0.428 0.547 0.547 0.613 . 5.310 3.410 3.860 1.176 0.676 0.256 0.004 0.005 563 . . . . EPS8L3 254 0 443 40 0.082815734989648 TRUE TRUE ENSG00000168679.18 . BCM GRCh38.p13 chr1 110381655 110381655 + G G C Missense_Mutation SNP ENST00000369779.9 exon4 c.C361G p.P121A exonic ENSG00000168679.18 . nonsynonymous SNV ENSG00000168679.18:ENST00000369779.9:exon4:c.C361G:p.P121A 1p13.3 C3N-02971 . . . . . . . . . 2.20 T T P B N D L T N 0.304 T T T 0.057 0.499 0.681 0.157 T T T T T T 1.213 13.740 0.200 D N -0.526 1.127 -0.432 1.316 1.000 0.421 0.551 0.545 0.492 . 4.870 1.780 2.444 0.194 -0.154 1.000 0.997 0.766 883 Major_facilitator_superfamily_domain . . . SLC16A4 75 0 138 15 0.0980392156862745 TRUE TRUE ENSG00000198965.4 . BCM GRCh38.p13 chr1 158480398 158480398 + T T G Missense_Mutation SNP ENST00000368152.1 exon1 c.T521G p.L174W exonic ENSG00000198965.4 . nonsynonymous SNV ENSG00000198965.4:ENST00000368152.1:exon1:c.T521G:p.L174W 1q23.1 C3N-02971 . . . . . . . . . 7.19 D D D D . N M T D 0.466 T T T 0.174 0.532 0.755 0.068 T T T T D T 2.452 22.300 0.955 N N 0.123 2.978 -0.115 2.005 0.046 0.603 0.549 0.574 0.564 . 4.480 3.350 3.094 0.949 0.643 0.140 0.001 0.250 672 GPCR,_rhodopsin-like,_7TM . . . OR10R2 225 0 435 23 0.0502183406113537 TRUE NA ENSG00000162896.6 . BCM GRCh38.p13 chr1 206935637 206935637 + G G T Nonsense_Mutation SNP ENST00000356495.5 exon5 c.C1227A p.Y409X exonic ENSG00000162896.6 . stopgain ENSG00000162896.6:ENST00000356495.5:exon5:c.C1227A:p.Y409X 1q32.1 C3N-02971 . . . . . . . . . 1.6 . . . . N A . . . 0.829 . . . . . . . . . T T . . 3.181 23.800 0.921 N N -0.914 0.503 -1.318 0.198 1.000 0.520 0.596 0.441 0.636 . 5.450 -7.050 -2.122 -3.255 -1.484 0.000 0.000 0.002 798 Immunoglobulin_V-set_domain;Immunoglobulin_subtype . . . PIGR 322 0 556 84 0.13125 TRUE TRUE ENSG00000279263.1 . BCM GRCh38.p13 chr1 247949363 247949363 + G G A Missense_Mutation SNP ENST00000623922.1 exon1 c.G506A p.R169Q exonic ENSG00000279263.1 . nonsynonymous SNV ENSG00000279263.1:ENST00000623922.1:exon1:c.G506A:p.R169Q 1q44 C3N-02971 9.89e-05 0.0004 8.678e-05 0.0003 0 5.995e-05 0 0 rs565612069 0.16 . . B B N N L . . . T T T 0.048 . . . T T T T T T 0.272 3.965 0.986 N N -0.736 0.753 -0.737 0.846 0.000 0.487 0.574 0.574 0.564 . 1.790 0.818 0.234 -2.356 -0.206 0.000 0.000 0.000 946 GPCR,_rhodopsin-like,_7TM . . ID=COSV61727112;OCCURENCE=2(central_nervous_system),1(skin) OR2L8 300 0 462 55 0.106382978723404 NA TRUE ENSG00000188687.17 . BCM GRCh38.p13 chr2 74239463 74239463 + G G A Missense_Mutation SNP ENST00000346834.8 exon18 c.C2191T p.R731C exonic ENSG00000188687.17 . nonsynonymous SNV ENSG00000188687.17:ENST00000346834.8:exon18:c.C2191T:p.R731C 2p13.1 C3N-02971 1.663e-05 0 0 0 0.0002 1.508e-05 0 0 . 10.20 D D D P N D L T D 0.470 T T D 0.406 0.384 0.628 0.742 T D T T D D 3.855 26.100 0.999 D N 0.189 3.257 0.198 3.171 0.004 0.554 0.588 0.574 0.530 . 5.330 2.370 1.393 1.176 0.676 0.991 0.965 0.965 649 Bicarbonate_transporter,_C-terminal . . ID=COSV61030120;OCCURENCE=1(large_intestine),1(stomach) SLC4A5 304 0 557 46 0.0762852404643449 TRUE TRUE ENSG00000132313.15 . BCM GRCh38.p13 chr2 86206174 86206174 + A A G Missense_Mutation SNP ENST00000337109.9 exon2 c.A112G p.I38V exonic ENSG00000132313.15 . nonsynonymous SNV ENSG00000132313.15:ENST00000337109.9:exon2:c.A112G:p.I38V 2p11.2 C3N-02971 . . . . . . . . . 0.20 T T B B N N L T N 0.038 T T T 0.025 0.171 0.102 0.113 T T T T T T 0.285 4.117 0.776 N N -0.946 0.465 -0.926 0.585 0.999 0.732 0.744 0.710 0.714 . 5.290 -1.240 0.127 1.302 0.747 0.004 0.968 0.934 475 . . . . MRPL35 139 0 268 18 0.0629370629370629 NA TRUE ENSG00000144057.15 . BCM GRCh38.p13 chr2 106830159 106830159 + G G T Missense_Mutation SNP ENST00000409382.7 exon5 c.C1225A p.L409I exonic ENSG00000144057.15 . nonsynonymous SNV ENSG00000144057.15:ENST00000409382.7:exon5:c.C1225A:p.L409I 2q12.3 C3N-02971 . . . . . . . . . 10.20 D D D P D D M T N 0.614 T T T 0.253 0.657 0.450 1.457 T T T T D D 3.578 25.000 0.997 D D 0.865 10.197 0.892 13.426 1.000 0.563 0.574 0.609 0.564 . 6.060 6.060 9.964 1.176 0.676 1.000 1.000 1.000 866 . . . ID=COSV62416335;OCCURENCE=2(large_intestine) ST6GAL2 117 1 240 35 0.127272727272727 TRUE TRUE ENSG00000144228.9 . BCM GRCh38.p13 chr2 138550505 138550505 + A A G Missense_Mutation SNP ENST00000280098.9 exon3 c.A101G p.Y34C exonic ENSG00000144228.9 . nonsynonymous SNV ENSG00000144228.9:ENST00000280098.9:exon3:c.A101G:p.Y34C 2q22.1 C3N-02971 8.302e-06 0 0 0 0 0 0 6.083e-05 rs770111475 16.20 D D D D D D M T D 0.865 T T D 0.814 0.710 0.879 0.766 D T D D D D 3.932 26.500 0.998 D D 0.707 7.216 0.657 7.025 1.000 0.651 0.709 0.659 0.655 . 4.720 4.720 7.488 1.311 0.756 1.000 1.000 0.990 890 MATH/TRAF_domain . . . SPOPL 45 0 102 15 0.128205128205128 TRUE NA ENSG00000038295.8 . BCM GRCh38.p13 chr4 166003399 166003399 + C C T Missense_Mutation SNP ENST00000061240.7 exon6 c.C641T p.S214F exonic ENSG00000038295.8 . nonsynonymous SNV ENSG00000038295.8:ENST00000061240.7:exon6:c.C641T:p.S214F 4q32.3 C3N-02971 . . . . . . . . . 18.20 D D D D U D H T D 0.982 D D D 0.897 0.920 0.912 0.941 D D D D D D 4.060 27.400 0.998 D D 0.965 12.852 0.833 11.159 1.000 0.638 0.574 0.618 0.668 . 5.190 5.190 7.905 1.000 0.599 1.000 1.000 0.973 906 Peptidase,_metallopeptidase;Peptidase_M12A;Tolloid/BMP1_peptidase_domain . . ID=COSV99288636;OCCURENCE=1(skin) TLL1 310 0 431 38 0.0810234541577825 TRUE TRUE ENSG00000164292.13 . BCM GRCh38.p13 chr5 95793149 95793149 + G G A Missense_Mutation SNP ENST00000379982.8 exon12 c.G1811A p.R604Q exonic ENSG00000164292.13 . nonsynonymous SNV ENSG00000164292.13:ENST00000379982.8:exon12:c.G1811A:p.R604Q 5q15 C3N-02971 0.0003 0.0003 0.0025 0 0 0 0 0 rs374462478 3.20 T T B B D D L T N 0.217 T T T 0.132 . 0.718 0.470 T T T T T T 2.633 22.700 0.998 D N -0.027 2.418 0.223 3.299 1.000 0.732 0.654 0.659 0.728 . 6.170 6.170 4.094 1.176 0.676 1.000 1.000 0.997 857 . . . . RHOBTB3 97 0 213 22 0.0936170212765957 TRUE NA ENSG00000204655.12 . BCM GRCh38.p13 chr6 29659438 29659438 + C C T Missense_Mutation SNP ENST00000376917.8 exon2 c.C208T p.R70C exonic ENSG00000204655.12 . nonsynonymous SNV ENSG00000204655.12:ENST00000376917.8:exon2:c.C208T:p.R70C 6p22.1 C3N-02971 3.442e-05 0 0 0 0 3.158e-05 0 0.0001 rs749783831 15.20 D D D D D D M T D 0.846 T T D 0.720 0.713 0.884 1.024 T D D D D D 3.865 26.200 0.999 D N 0.562 5.559 0.485 5.021 0.998 0.554 0.547 0.602 0.530 . 5.720 3.870 1.492 1.026 0.599 1.000 0.867 0.955 851 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . MOG 242 0 436 62 0.124497991967871 TRUE NA ENSG00000151914.20 . BCM GRCh38.p13 chr6 56607633 56607633 + A A C Missense_Mutation SNP ENST00000361203.7 exon36 c.T6362G p.V2121G exonic ENSG00000151914.20 . nonsynonymous SNV ENSG00000151914.20:ENST00000361203.7:exon36:c.T6362G:p.V2121G 6p12.1 C3N-02971 . . . . . . . . . 1.17 D T B B N . . T N 0.152 T T T 0.299 . 0.926 . . T T T T T 0.609 7.595 0.928 N N -0.731 0.761 -0.729 0.858 0.966 0.707 0.602 0.651 0.714 . 5.190 2.790 -0.215 0.232 0.756 0.000 0.002 0.107 252 . . . . DST 236 0 374 57 0.132250580046404 TRUE NA ENSG00000112706.12 . BCM GRCh38.p13 chr6 76041980 76041980 + C C T Missense_Mutation SNP ENST00000369950.8 exon2 c.G214A p.A72T exonic ENSG00000112706.12 . nonsynonymous SNV ENSG00000112706.12:ENST00000369950.8:exon2:c.G214A:p.A72T 6q14.1 C3N-02971 8.244e-06 0 0 0 0 0 0.0011 0 rs769499134 0.20 T T B B N N L T N 0.192 T T T 0.156 0.300 0.537 0.013 T T T T T T 0.179 2.892 0.916 N N -0.873 0.555 -0.839 0.703 0.000 0.487 0.574 0.574 0.564 . 6.070 -2.600 -1.138 -0.832 -0.275 0.000 0.984 0.986 378 . . . ID=COSV64059410;OCCURENCE=2(large_intestine),1(haematopoietic_and_lymphoid_tissue) IMPG1 496 0 729 47 0.0605670103092784 TRUE TRUE ENSG00000146282.18 . BCM GRCh38.p13 chr6 87541994 87541994 + C C A Missense_Mutation SNP ENST00000369536.10 exon8 c.G536T p.G179V exonic ENSG00000146282.18 . nonsynonymous SNV ENSG00000146282.18:ENST00000369536.10:exon8:c.G536T:p.G179V 6q15 C3N-02971 . . . . . . . . . 17.20 D D D D D D H T D 0.967 D D D 0.690 0.878 0.971 0.596 T T D D D D 5.055 33 0.998 D D 1.050 15.572 0.954 16.289 1.000 0.732 0.725 0.744 0.728 . 5.850 5.850 5.814 1.023 0.599 1.000 0.978 0.871 799 Arginyl-tRNA_synthetase,_catalytic_core_domain . . . RARS2 307 0 505 75 0.129310344827586 TRUE TRUE ENSG00000026297.16 . BCM GRCh38.p13 chr6 166956127 166956127 + A A C Missense_Mutation SNP ENST00000508775.6 exon1 c.T56G p.L19R exonic ENSG00000026297.16 . nonsynonymous SNV ENSG00000026297.16:ENST00000508775.6:exon1:c.T56G:p.L19R 6q27 C3N-02971 . . . . . . . . . 1.20 T D B B N N N T N 0.384 T T T 0.328 0.779 0.337 0.333 T T T T T T 0.669 8.165 0.662 N N -1.192 0.232 -1.253 0.242 1.000 0.789 0.522 0.768 0.604 . 2.150 -0.086 -0.640 -0.394 -0.227 0.000 0.000 0.001 994 . . . . RNASET2 374 0 633 78 0.109704641350211 TRUE TRUE ENSG00000001629.10 . BCM GRCh38.p13 chr7 92398462 92398462 + A A C Missense_Mutation SNP ENST00000265742.8 exon20 c.A2783C p.E928A exonic ENSG00000001629.10 . nonsynonymous SNV ENSG00000001629.10:ENST00000265742.8:exon20:c.A2783C:p.E928A 7q21.2 C3N-02971 . . . . . . . . . 1.20 T T B B N N N T N 0.095 T T T 0.064 0.071 0.284 0.073 T T T T T T 1.728 17.220 0.969 D N -0.445 1.287 -0.266 1.636 0.212 0.732 0.725 0.744 0.714 . 5.610 1.530 1.804 1.312 0.756 0.982 1.000 0.996 586 . . . . ANKIB1 229 0 393 227 0.366129032258065 TRUE TRUE ENSG00000061337.15 . BCM GRCh38.p13 chr8 20249808 20249808 + G G A Missense_Mutation SNP ENST00000381569.5 exon4 c.C1705T p.R569C exonic ENSG00000061337.15 . nonsynonymous SNV ENSG00000061337.15:ENST00000381569.5:exon4:c.C1705T:p.R569C 8p21.3 C3N-02971 4.12e-05 0.0002 8.639e-05 0 0 2.998e-05 0 0 rs376917114 0.20 T T P B N N L T N 0.422 T T T 0.083 . 0.271 1.107 T T T T T T 2.299 21.600 0.995 N N -0.228 1.799 -0.201 1.784 1.000 0.701 0.574 0.717 0.639 . 5.280 4.320 1.805 1.166 0.663 0.008 0.415 0.353 935 . . . ID=COSV99742849;OCCURENCE=1(upper_aerodigestive_tract) LZTS1 264 0 407 86 0.174442190669371 TRUE NA ENSG00000079102.16 . BCM GRCh38.p13 chr8 91960492 91960492 + G G A Missense_Mutation SNP ENST00000613302.4 exon14 c.C1565T p.A522V exonic ENSG00000079102.16 . nonsynonymous SNV ENSG00000079102.16:ENST00000613302.4:exon14:c.C1565T:p.A522V 8q21.3 C3N-02971 . . . . . . . . . 17.20 D D D D D D M T D 0.969 T T D 0.549 0.696 0.524 1.688 D D D D D D 4.261 29.200 0.999 D D 0.972 13.069 0.955 16.345 1.000 0.707 0.574 0.725 0.636 . 5.860 5.860 10.003 1.176 0.676 1.000 0.725 0.958 542 Zinc_finger,_MYND-type . . ID=COSV56143042;OCCURENCE=1(cervix),1(stomach),1(endometrium) RUNX1T1 213 0 338 35 0.0938337801608579 TRUE TRUE ENSG00000023318.8 . BCM GRCh38.p13 chr9 100057850 100057850 + T T C Missense_Mutation SNP ENST00000262455.7 exon3 c.A140G p.D47G exonic ENSG00000023318.8 . nonsynonymous SNV ENSG00000023318.8:ENST00000262455.7:exon3:c.A140G:p.D47G 9q31.1 C3N-02971 . . . . . . . . . 5.20 T T B B D D N T D 0.245 T T T 0.074 0.503 0.168 0.723 T T T T D T 2.940 23.300 0.989 D N -0.053 2.329 0.169 3.035 1.000 0.732 0.658 0.710 0.728 . 5.620 5.620 5.292 1.134 0.661 1.000 1.000 1.000 515 Thioredoxin_domain . . . ERP44 138 0 221 36 0.140077821011673 TRUE TRUE ENSG00000187714.7 . BCM GRCh38.p13 chr10 49611137 49611137 + A A G Missense_Mutation SNP ENST00000374115.5 exon1 c.A397G p.I133V exonic ENSG00000187714.7 . nonsynonymous SNV ENSG00000187714.7:ENST00000374115.5:exon1:c.A397G:p.I133V 10q11.23 C3N-02971 . . . . . . . . . 6.20 D T P P U D M T N 0.446 T T T 0.280 0.463 0.677 . T T T T D T 3.704 25.400 0.997 D D 0.626 6.194 0.627 6.572 1.000 0.598 0.563 0.607 0.639 . 4.940 4.940 7.203 1.312 0.756 1.000 0.997 0.988 607 Major_facilitator_superfamily_domain . . . SLC18A3 392 0 651 43 0.0619596541786743 TRUE TRUE ENSG00000170959.14 . BCM GRCh38.p13 chr11 30904998 30904998 + C C T Missense_Mutation SNP ENST00000597505.5 exon29 c.G4271A p.R1424H exonic ENSG00000170959.14 . nonsynonymous SNV ENSG00000170959.14:ENST00000597505.5:exon29:c.G4271A:p.R1424H 11p14.1 C3N-02971 0.0001 0 0.0003 0 0 0.0002 0 6.058e-05 rs754104310 2.14 . T . . N N . D . 0.242 T D T 0.316 . 0.293 . T . T T T T 0.636 7.859 0.912 N N -1.085 0.320 -1.064 0.414 0.000 0.554 0.574 0.618 0.564 . 5.300 -3.570 -0.756 -1.333 -1.742 0.227 0.799 0.814 452 Doublecortin_domain . . ID=COSV58004437;OCCURENCE=1(pancreas) DCDC1 221 0 349 51 0.1275 TRUE TRUE ENSG00000165323.15 . BCM GRCh38.p13 chr11 92883354 92883354 + G G A Missense_Mutation SNP ENST00000409404.6 exon23 c.G12898A p.D4300N exonic ENSG00000165323.15 . nonsynonymous SNV ENSG00000165323.15:ENST00000409404.6:exon23:c.G12898A:p.D4300N 11q14.3 C3N-02971 . . . . . . . . . 14.18 D D D P . D M D D 0.726 D D D 0.582 0.517 0.760 . T T D T D . 4.287 29.500 0.999 D D 0.845 9.724 0.836 11.263 1.000 0.657 0.590 0.673 0.613 . 5.640 5.640 8.042 1.176 0.676 1.000 1.000 0.989 701 . . . ID=COSV53101263;OCCURENCE=1(lung) FAT3 62 0 97 11 0.101851851851852 TRUE TRUE ENSG00000110811.20 . BCM GRCh38.p13 chr12 6828526 6828526 + C C T Missense_Mutation SNP ENST00000290510.10 exon1 c.C86T p.S29F exonic ENSG00000110811.20 . nonsynonymous SNV ENSG00000110811.20:ENST00000290510.10:exon1:c.C86T:p.S29F 12p13.31 C3N-02971 . . . . . . . . . 3.15 . D B B U N . . . 0.122 T T D 0.030 0.251 0.092 . . T T T D T 1.782 17.600 0.989 N N -0.544 1.091 -0.618 1.019 1.000 0.496 0.492 0.520 0.492 . 3.530 2.640 1.330 0.081 -0.314 0.005 0.942 0.608 549 . . . . P3H3 77 0 154 9 0.0552147239263804 TRUE TRUE ENSG00000134538.3 . BCM GRCh38.p13 chr12 21178697 21178697 + A A T Missense_Mutation SNP ENST00000256958.3 exon6 c.A603T p.K201N exonic ENSG00000134538.3 . nonsynonymous SNV ENSG00000134538.3:ENST00000256958.3:exon6:c.A603T:p.K201N 12p12.1 C3N-02971 . . . . . . . . . 3.20 T T B B N N M T D 0.138 T T T 0.094 0.502 0.300 0.015 T T T T D T 1.553 16.070 0.987 N N -0.456 1.265 -0.542 1.135 0.000 0.487 0.574 0.574 0.564 . 3.560 3.560 0.047 0.146 -0.228 0.000 0.924 0.551 917 Major_facilitator_superfamily_domain . . . SLCO1B1 213 0 308 21 0.0638297872340425 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-02971 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 276 0 443 60 0.119284294234592 TRUE TRUE ENSG00000111249.14 . BCM GRCh38.p13 chr12 111348184 111348184 + C C A Missense_Mutation SNP ENST00000261726.11 exon22 c.C4320A p.D1440E exonic ENSG00000111249.14 . nonsynonymous SNV ENSG00000111249.14:ENST00000261726.11:exon22:c.C4320A:p.D1440E 12q24.12 C3N-02971 . . . . . . . . . 0.20 T T B B N N N T N 0.026 T T T 0.036 0.155 0.134 0.050 T T T T T T 1.578 16.230 0.612 N N -1.076 0.328 -1.022 0.463 0.000 0.615 0.588 0.659 0.542 . 5.580 2.570 0.764 0.077 -0.182 0.314 0.014 0.031 588 . . . . CUX2 237 0 407 22 0.0512820512820513 TRUE NA ENSG00000133983.16 . BCM GRCh38.p13 chr14 70359542 70359542 + G G T Missense_Mutation SNP ENST00000389912.7 exon1 c.C46A p.L16I exonic ENSG00000133983.16 . nonsynonymous SNV ENSG00000133983.16:ENST00000389912.7:exon1:c.C46A:p.L16I 14q24.2 C3N-02971 . . . . . . . . . 0.18 T T P B U N L . N 0.260 T T T 0.133 0.274 0.200 0.195 . T T T T T 1.783 17.610 0.980 N N -0.349 1.498 -0.300 1.564 1.000 0.442 0.522 0.522 0.562 . 5.320 3.500 0.963 0.227 -0.103 0.960 0.752 0.720 861 . . . . COX16 163 0 346 33 0.0870712401055409 TRUE TRUE ENSG00000182256.13 . BCM GRCh38.p13 chr15 27520104 27520104 + C C T Missense_Mutation SNP ENST00000615808.5 exon7 c.C845T p.T282M exonic ENSG00000182256.13 . nonsynonymous SNV ENSG00000182256.13:ENST00000615808.5:exon7:c.C845T:p.T282M 15q12 C3N-02971 . . . . . . . . . 15.20 D D D P D D M D N 0.528 D D D 0.516 0.622 0.755 1.543 T T D T D D 3.301 24.100 0.999 D D 0.588 5.799 0.607 6.318 0.895 0.487 0.574 0.574 0.564 . 5.390 5.390 2.102 1.023 0.595 0.917 0.996 0.977 988 Neurotransmitter-gated_ion-channel_transmembrane_domain . . ID=COSV61529562;OCCURENCE=1(large_intestine) GABRG3 203 0 340 26 0.0710382513661202 TRUE TRUE ENSG00000174485.15 . BCM GRCh38.p13 chr15 65669822 65669822 + C C T Missense_Mutation SNP ENST00000431932.6 exon26 c.G4612A p.D1538N exonic ENSG00000174485.15 . nonsynonymous SNV ENSG00000174485.15:ENST00000431932.6:exon26:c.G4612A:p.D1538N 15q22.31 C3N-02971 . . . . . . . . . 1.20 T T B B N N N T N 0.104 T T T 0.057 0.175 0.467 0.088 T T T T T T 1.887 18.390 0.987 D N -0.164 1.978 0.012 2.402 0.999 0.732 0.744 0.659 0.674 . 5.640 5.640 0.221 1.026 0.599 0.828 1.000 0.947 716 . . . . DENND4A 184 0 282 18 0.06 TRUE TRUE ENSG00000007384.15 . BCM GRCh38.p13 chr16 60496 60496 + G G C Missense_Mutation SNP ENST00000262316.10 exon12 c.C1601G p.A534G exonic ENSG00000007384.15 . nonsynonymous SNV ENSG00000007384.15:ENST00000262316.10:exon12:c.C1601G:p.A534G 16p13.3 C3N-02971 . . . . . . . . . 6.20 T T B B D D L T N 0.187 T T T 0.110 0.234 0.286 0.424 T T T T D D 2.354 21.900 0.709 D D -0.340 1.518 -0.084 2.094 1.000 0.672 0.694 0.702 0.711 . 5.380 5.380 5.022 1.172 0.672 1.000 0.969 0.896 946 . . . . RHBDF1 182 0 325 32 0.0896358543417367 TRUE TRUE ENSG00000205832.7 . BCM GRCh38.p13 chr16 4576312 4576312 + C C T Missense_Mutation SNP ENST00000444310.4 exon5 c.C1832T p.T611M exonic ENSG00000205832.7 . nonsynonymous SNV ENSG00000205832.7:ENST00000444310.4:exon5:c.C1832T:p.T611M 16p13.3 C3N-02971 5.636e-05 0 0 0 0 0.0001 0 0 rs759379003 0.17 T T B B . N N . N 0.052 T T T 0.057 0.341 0.030 . . T T T T T -1.523 0.001 0.653 N N -1.812 0.022 -1.906 0.021 0.960 0.615 0.574 0.659 0.613 . 3.710 -7.430 -3.467 -0.215 -0.254 0.000 0.000 0.001 520 . . . . C16orf96 262 0 432 37 0.0788912579957356 TRUE NA ENSG00000171241.9 . BCM GRCh38.p13 chr16 46621350 46621350 + C C A Missense_Mutation SNP ENST00000303383.8 exon1 c.G10T p.G4W exonic ENSG00000171241.9 . nonsynonymous SNV ENSG00000171241.9:ENST00000303383.8:exon1:c.G10T:p.G4W 16q11.2 C3N-02971 8.876e-06 0 0 0 0 1.63e-05 0 0 rs759988033 3.20 T D D D N N L T N 0.199 T T T 0.065 0.240 0.173 0.291 T T T T T T 1.668 16.810 0.965 N N -0.312 1.586 -0.506 1.192 1.000 0.267 0.093 0.474 0.373 . 3.830 2.870 -0.025 0.031 -0.245 0.000 0.052 0.012 367 . . . . SHCBP1 209 0 344 86 0.2 TRUE NA ENSG00000103335.22 . BCM GRCh38.p13 chr16 88716018 88716018 + A A G Missense_Mutation SNP ENST00000301015.14 exon50 c.T7231C p.C2411R exonic ENSG00000103335.22 . nonsynonymous SNV ENSG00000103335.22:ENST00000301015.14:exon50:c.T7231C:p.C2411R 16q24.3 C3N-02971 . . . . . . . . . 9.19 D D D D N D L T D 0.642 T T D 0.557 0.607 0.210 . T T T T D T 2.937 23.300 0.986 D . -0.035 2.389 -0.020 2.291 1.000 0.672 0.702 0.723 0.711 . 4.400 4.400 3.463 1.168 0.686 1.000 0.450 0.060 895 Piezo_non-specific_cation_channel,_R-Ras-binding_domain . . . PIEZO1 177 0 371 23 0.0583756345177665 TRUE TRUE ENSG00000108405.4 . BCM GRCh38.p13 chr17 3903629 3903629 + G G A Missense_Mutation SNP ENST00000225538.4 exon6 c.C527T p.P176L exonic ENSG00000108405.4 . nonsynonymous SNV ENSG00000108405.4:ENST00000225538.4:exon6:c.C527T:p.P176L 17p13.2 C3N-02971 . . . . . . . . . 10.20 D D P P D D M T D 0.613 T T T 0.219 0.653 0.531 1.058 T T T T D D 4.052 27.400 0.999 D D 0.590 5.825 0.548 5.631 1.000 0.615 0.634 0.535 0.613 . 5.370 4.400 5.732 1.176 0.676 1.000 0.997 0.979 317 . . . . P2RX1 430 0 560 114 0.169139465875371 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674250 7674250 + C C T Missense_Mutation SNP ENST00000269305.8 exon7 c.G713A p.C238Y exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.G713A:p.C238Y 17p13.1 C3N-02971 1.648e-05 0 0 0 0 2.997e-05 0 0 rs730882005 20.20 D D D D D D M D D 0.978 D D D 0.957 0.989 0.993 0.492 D D D D D D 4.116 27.900 0.997 D D 0.869 10.286 0.765 9.165 1.000 0.722 0.702 0.725 0.735 . 4.090 4.090 7.829 1.021 0.596 1.000 1.000 1.000 433 p53,_DNA-binding_domain . . ID=COSV52661646;OCCURENCE=1(salivary_gland),25(breast),1(liver),16(oesophagus),19(large_intestine),10(central_nervous_system),3(biliary_tract),13(ovary),1(bone),5(stomach),20(haematopoietic_and_lymphoid_tissue),3(urinary_tract),9(soft_tissue),14(pancreas),2(skin),3(prostate),5(lung),2(thyroid),4(upper_aerodigestive_tract),5(endometrium) TP53 352 0 486 179 0.269172932330827 TRUE TRUE ENSG00000133026.13 . BCM GRCh38.p13 chr17 8535930 8535930 + G G A Missense_Mutation SNP ENST00000269243.8 exon14 c.C1577T p.A526V exonic ENSG00000133026.13 . nonsynonymous SNV ENSG00000133026.13:ENST00000269243.8:exon14:c.C1577T:p.A526V 17p13.1 C3N-02971 1.655e-05 0 0 0 0 3.006e-05 0 0 rs752480302 8.20 T T B B D D N D N 0.587 T T D 0.421 0.451 0.726 1.455 D T T T T D 3.269 24.000 0.997 D D 0.230 3.436 0.394 4.313 1.000 0.707 0.670 0.725 0.714 . 5.420 5.420 9.985 1.176 0.676 1.000 0.968 0.931 561 Myosin_head,_motor_domain . . . MYH10 93 0 118 53 0.309941520467836 TRUE NA ENSG00000172156.4 . BCM GRCh38.p13 chr17 34285821 34285821 + G G A Missense_Mutation SNP ENST00000305869.4 exon1 c.G13A p.A5T exonic ENSG00000172156.4 . nonsynonymous SNV ENSG00000172156.4:ENST00000305869.4:exon1:c.G13A:p.A5T 17q12 C3N-02971 0.0001 0.0002 0 0.0001 0 0.0001 0 0.0004 rs56120942 0.19 T T B B N N . T N 0.059 T T T 0.035 . 0.329 0.009 T T T T T T -0.384 0.208 0.874 N N -1.295 0.167 -1.402 0.150 0.000 0.487 0.574 0.574 0.530 . 4.680 -4.260 -0.597 -0.481 -0.105 0.000 0.000 0.001 819 . . . ID=COSV59925160;OCCURENCE=2(large_intestine) CCL11 114 0 180 30 0.142857142857143 TRUE TRUE ENSG00000120071.14 . BCM GRCh38.p13 chr17 46171872 46171872 + G G T Missense_Mutation SNP ENST00000432791.6 exon2 c.C272A p.P91H exonic ENSG00000120071.14 . nonsynonymous SNV ENSG00000120071.14:ENST00000432791.6:exon2:c.C272A:p.P91H 17q21.31 C3N-02971 . . . . . . . . . 8.17 D D . . N D . T D 0.370 T T T 0.165 0.261 0.202 0.126 T T T T D D 3.810 25.900 0.995 D D 0.590 5.826 0.671 7.250 1.000 0.722 0.702 0.699 0.714 . 5.870 5.870 8.954 1.163 0.676 1.000 0.996 1.000 169 . . . . KANSL1 612 0 975 87 0.0819209039548023 TRUE TRUE ENSG00000166685.12 . BCM GRCh38.p13 chr17 73193277 73193277 + C C T Missense_Mutation SNP ENST00000299886.9 exon1 c.C208T p.R70C exonic ENSG00000166685.12 . nonsynonymous SNV ENSG00000166685.12:ENST00000299886.9:exon1:c.C208T:p.R70C 17q25.1 C3N-02971 . . . . . . . . . 12.20 D D D D D D M T D 0.481 T T D 0.243 0.712 0.411 2.043 D T T T D D 4.473 32 0.990 N N 0.468 4.799 0.408 4.414 1.000 0.442 0.522 0.522 0.562 . 3.890 3.890 2.483 0.939 0.439 1.000 0.999 0.905 584 . . . . COG1 288 0 414 84 0.168674698795181 TRUE TRUE ENSG00000141519.15 . BCM GRCh38.p13 chr17 80084945 80084945 + A A G Missense_Mutation SNP ENST00000397545.9 exon13 c.A2192G p.N731S exonic ENSG00000141519.15 . nonsynonymous SNV ENSG00000141519.15:ENST00000397545.9:exon13:c.A2192G:p.N731S 17q25.3 C3N-02971 8.402e-06 0 0 0 0 1.519e-05 0 0 rs376612893 1.19 T T B B . N L T N 0.180 T T T 0.127 . 0.363 0.203 T T T T T T 2.060 19.710 0.992 D N -0.054 2.324 0.074 2.629 0.025 0.646 0.563 0.645 0.530 . 5.060 5.060 1.694 1.232 0.665 0.984 1.000 0.985 884 . . . . CCDC40 403 0 690 49 0.0663058186738836 TRUE NA ENSG00000065717.15 . BCM GRCh38.p13 chr19 3014586 3014586 + T T C Missense_Mutation SNP ENST00000262953.11 exon10 c.A707G p.N236S exonic ENSG00000065717.15 . nonsynonymous SNV ENSG00000065717.15:ENST00000262953.11:exon10:c.A707G:p.N236S 19p13.3 C3N-02971 . . . . . . . . . 13.20 D D D D D D M T D 0.649 T T D 0.263 0.398 0.911 0.244 T T T T D D 3.110 23.700 0.994 D D 0.498 5.018 0.376 4.193 0.998 0.706 0.610 0.710 0.714 . 3.860 3.860 7.116 0.206 0.664 1.000 0.815 0.087 982 . . . . TLE2 44 0 77 10 0.114942528735632 TRUE NA ENSG00000128011.4 . BCM GRCh38.p13 chr19 39314058 39314058 + G G A Missense_Mutation SNP ENST00000248668.4 exon1 c.C1279T p.R427W exonic ENSG00000128011.4 . nonsynonymous SNV ENSG00000128011.4:ENST00000248668.4:exon1:c.C1279T:p.R427W 19q13.2 C3N-02971 . . . . . . . . . 13.20 D D D D D D M T D 0.341 T T D 0.292 0.585 0.318 . T T D T D D 2.998 23.400 0.999 N D 0.113 2.938 -0.031 2.255 0.000 0.701 0.588 0.717 0.568 . 4.530 0.848 -0.406 -0.235 0.676 0.000 0.623 0.365 544 Fibronectin_type_III . . ID=COSV50434815;OCCURENCE=1(cervix) LRFN1 197 0 319 48 0.130790190735695 TRUE TRUE ENSG00000077312.9 . BCM GRCh38.p13 chr19 40762981 40762981 + G G C Missense_Mutation SNP ENST00000243563.8 exon4 c.G507C p.M169I exonic ENSG00000077312.9 . nonsynonymous SNV ENSG00000077312.9:ENST00000243563.8:exon4:c.G507C:p.M169I 19q13.2 C3N-02971 . . . . . . . . . 8.20 T T P P D D L T N 0.681 T T D 0.129 0.231 0.659 0.997 D T T T D D 3.240 24.000 0.996 D D 0.638 6.334 0.687 7.517 1.000 0.707 0.702 0.702 0.714 . 5.540 5.540 8.800 1.176 0.676 1.000 0.999 0.980 494 . . . . SNRPA 183 0 248 52 0.173333333333333 TRUE TRUE ENSG00000160013.9 . BCM GRCh38.p13 chr19 46621323 46621323 + G G A Missense_Mutation SNP ENST00000291294.7 exon3 c.C1118T p.T373M exonic ENSG00000160013.9 . nonsynonymous SNV ENSG00000160013.9:ENST00000291294.7:exon3:c.C1118T:p.T373M 19q13.32 C3N-02971 9.137e-06 0 0 0.0001 0 0 0 0 rs768787228 0.20 T T B B N N N T N 0.110 T T T 0.070 0.161 0.700 0.180 T T T T T T 1.067 12.430 0.728 N N -0.948 0.462 -0.919 0.595 1.000 0.543 0.686 0.618 0.568 . 4.750 2.430 0.696 0.245 0.676 0.001 0.002 0.027 929 . . . ID=COSV104394174;OCCURENCE=1(large_intestine) PTGIR 17 0 48 4 0.0769230769230769 TRUE NA ENSG00000126001.16 . BCM GRCh38.p13 chr20 35501934 35501934 + C C T Missense_Mutation SNP ENST00000397527.6 exon29 c.C3988T p.R1330W exonic ENSG00000126001.16 . nonsynonymous SNV ENSG00000126001.16:ENST00000397527.6:exon29:c.C3988T:p.R1330W 20q11.22 C3N-02971 5.81e-05 0 0.0004 0 0 3.018e-05 0 0 rs773111712 6.20 D D D P N N M T D 0.290 T T T 0.051 . 0.427 0.153 T T T T T D 2.992 23.400 0.998 N N -0.004 2.498 -0.136 1.947 1.000 0.722 0.699 0.725 0.636 . 5.110 1.840 0.204 1.026 0.599 0.005 0.903 0.933 549 . . . . CEP250 135 0 257 22 0.0788530465949821 TRUE NA ENSG00000169184.6 . BCM GRCh38.p13 chr22 27799166 27799166 + C C T Missense_Mutation SNP ENST00000302326.5 exon1 c.G1378A p.D460N exonic ENSG00000169184.6 . nonsynonymous SNV ENSG00000169184.6:ENST00000302326.5:exon1:c.G1378A:p.D460N 22q12.1 C3N-02971 . . . . . . . . . 12.20 D T D D D D L T D 0.502 T T D 0.307 0.338 0.937 . D T T T D D 4.209 28.700 0.998 D D 0.478 4.872 0.505 5.206 1.000 0.658 0.588 0.619 0.621 . 4.920 4.920 7.359 0.939 0.442 1.000 0.997 0.991 982 . . . . MN1 90 0 150 13 0.0797546012269939 TRUE TRUE ENSG00000173852.14 . BCM GRCh38.p13 chr7 34989942 34989942 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000173852.14 ENST00000310974.8:exon7:c.546-1G>A . . 7p14.2 C3N-02971 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.642 34 0.995 D . 1.028 14.817 0.866 12.363 0.995 0.078 0.097 0.079 0.093 0.976 5.270 5.270 4.089 1.021 0.596 1.000 0.956 0.767 701 . . . . DPY19L1 136 0 265 52 0.16403785488959 NA TRUE ENSG00000143631.11 . BCM GRCh38.p13 chr1 152304929 152304929 + C C T Silent SNP ENST00000368799.2 exon3 c.G9957A p.P3319P exonic ENSG00000143631.11 . synonymous SNV ENSG00000143631.11:ENST00000368799.2:exon3:c.G9957A:p.P3319P 1q21.3 C3N-02971 1.647e-05 0 8.637e-05 0 0 1.498e-05 0 0 rs774241945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64242888;OCCURENCE=1(oesophagus),1(prostate) FLG 539 0 806 134 0.142553191489362 NA TRUE ENSG00000135829.17 . BCM GRCh38.p13 chr1 182858165 182858165 + A A G Silent SNP ENST00000367549.4 exon8 c.A735G p.S245S exonic ENSG00000135829.17 . synonymous SNV ENSG00000135829.17:ENST00000367549.4:exon8:c.A735G:p.S245S 1q25.3 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DHX9 201 0 309 36 0.104347826086957 TRUE TRUE ENSG00000197410.14 . BCM GRCh38.p13 chr4 154235285 154235285 + G G A Silent SNP ENST00000357232.10 exon20 c.C9367T p.L3123L exonic ENSG00000197410.14 . synonymous SNV ENSG00000197410.14:ENST00000357232.10:exon20:c.C9367T:p.L3123L 4q31.3 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCHS2 156 0 229 20 0.0803212851405622 TRUE TRUE ENSG00000072682.18 . BCM GRCh38.p13 chr5 132193043 132193043 + G G A Silent SNP ENST00000401867.5 exon16 c.C1575T p.F525F exonic ENSG00000072682.18 . synonymous SNV ENSG00000072682.18:ENST00000401867.5:exon16:c.C1575T:p.F525F 5q31.1 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P4HA2 117 0 234 19 0.075098814229249 TRUE TRUE ENSG00000276547.1 . BCM GRCh38.p13 chr5 141399783 141399783 + C C T Silent SNP ENST00000617380.1 exon1 c.C1656T p.N552N exonic ENSG00000276547.1 . synonymous SNV ENSG00000276547.1:ENST00000617380.1:exon1:c.C1656T:p.N552N 5q31.3 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53956513;OCCURENCE=1(pancreas) PCDHGB5 523 0 744 110 0.128805620608899 NA TRUE ENSG00000146648.18 . BCM GRCh38.p13 chr7 55200392 55200392 + C C T Silent SNP ENST00000275493.7 exon24 c.C2925T p.P975P exonic ENSG00000146648.18 . synonymous SNV ENSG00000146648.18:ENST00000275493.7:exon24:c.C2925T:p.P975P 7p11.2 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EGFR 559 0 796 104 0.115555555555556 TRUE TRUE ENSG00000133878.9 . BCM GRCh38.p13 chr8 33593642 33593642 + C C A Silent SNP ENST00000256261.9 exon3 c.G327T p.L109L exonic ENSG00000133878.9 . synonymous SNV ENSG00000133878.9:ENST00000256261.9:exon3:c.G327T:p.L109L 8p12 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP26 479 1 749 61 0.0753086419753086 TRUE TRUE ENSG00000169583.13 . BCM GRCh38.p13 chr9 136995480 136995480 + C C T Silent SNP ENST00000494426.2 exon3 c.G231A p.Q77Q exonic ENSG00000169583.13 . synonymous SNV ENSG00000169583.13:ENST00000494426.2:exon3:c.G231A:p.Q77Q 9q34.3 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLIC3 147 0 246 31 0.111913357400722 TRUE TRUE ENSG00000078403.17 . BCM GRCh38.p13 chr10 21727926 21727926 + A A C Silent SNP ENST00000307729.12 exon16 c.A2061C p.P687P exonic ENSG00000078403.17 . synonymous SNV ENSG00000078403.17:ENST00000307729.12:exon16:c.A2061C:p.P687P 10p12.31 C3N-02971 8.637e-06 0 0 0 0.0002 0 0 0 rs745498825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MLLT10 220 0 306 28 0.0838323353293413 TRUE NA ENSG00000110799.13 . BCM GRCh38.p13 chr12 6056906 6056906 + G G A Silent SNP ENST00000261405.9 exon15 c.C1896T p.A632A exonic ENSG00000110799.13 . synonymous SNV ENSG00000110799.13:ENST00000261405.9:exon15:c.C1896T:p.A632A 12p13.31 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWF 182 0 335 59 0.149746192893401 TRUE TRUE ENSG00000089250.19 . BCM GRCh38.p13 chr12 117280767 117280767 + G G A Silent SNP ENST00000317775.11 exon8 c.C1482T p.D494D exonic ENSG00000089250.19 . synonymous SNV ENSG00000089250.19:ENST00000317775.11:exon8:c.C1482T:p.D494D 12q24.22 C3N-02971 0.0005 0.0001 8.646e-05 0.0052 0 9.013e-05 0 0.0001 rs181652902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57607214;OCCURENCE=2(central_nervous_system),1(lung) NOS1 226 0 442 30 0.0635593220338983 TRUE TRUE ENSG00000166206.15 . BCM GRCh38.p13 chr15 26560956 26560956 + G G A Silent SNP ENST00000311550.10 exon8 c.C1056T p.D352D exonic ENSG00000166206.15 . synonymous SNV ENSG00000166206.15:ENST00000311550.10:exon8:c.C1056T:p.D352D 15q12 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABRB3 317 0 512 42 0.075812274368231 TRUE TRUE ENSG00000215041.10 . BCM GRCh38.p13 chr17 7327558 7327558 + G G A Silent SNP ENST00000399464.7 exon2 c.C609T p.T203T exonic ENSG00000215041.10 . synonymous SNV ENSG00000215041.10:ENST00000399464.7:exon2:c.C609T:p.T203T 17p13.1 C3N-02971 8.511e-06 0.0001 0 0 0 0 0 0 rs372129260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEURL4 72 0 180 12 0.0625 TRUE NA ENSG00000186868.15 . BCM GRCh38.p13 chr17 45983353 45983353 + C C T Silent SNP ENST00000262410.9 exon6 c.C549T p.H183H exonic ENSG00000186868.15 . synonymous SNV ENSG00000186868.15:ENST00000262410.9:exon6:c.C549T:p.H183H 17q21.31 C3N-02971 0.0001 0 0 0 0.0033 0 0.0018 0 rs761089103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPT 91 0 181 13 0.0670103092783505 TRUE NA ENSG00000142235.11 . BCM GRCh38.p13 chr19 48498387 48498387 + G G A Silent SNP ENST00000600059.5 exon11 c.C2682T p.P894P exonic ENSG00000142235.11 . synonymous SNV ENSG00000142235.11:ENST00000600059.5:exon11:c.C2682T:p.P894P 19q13.33 C3N-02971 4.923e-05 0 0.0001 0 0 0 0 0.0003 rs747292842 1.3 . . . . . D . . . . . . . . . . . . . . . . . 0.719 8.632 0.698 N N . . . . 1.000 0.696 0.634 0.723 0.563 . 3.570 2.400 -0.049 1.074 0.676 0.000 1.000 0.968 958 . . . ID=COSV99539893;OCCURENCE=1(breast),1(endometrium) LMTK3 359 0 546 99 0.153488372093023 TRUE NA ENSG00000268089.3 . BCM GRCh38.p13 chrX 152649749 152649749 + C C T Silent SNP ENST00000598523.3 exon6 c.C618T p.Y206Y exonic ENSG00000268089.3 . synonymous SNV ENSG00000268089.3:ENST00000598523.3:exon6:c.C618T:p.Y206Y Xq28 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABRQ 200 0 265 51 0.161392405063291 TRUE TRUE ENSG00000109689.17 . BCM GRCh38.p13 chr4 27021017 27021017 + G G A Intron SNP NA NA NA NA intronic ENSG00000109689.17 . . . 4p15.2 C3N-02971 . . . . . . . . rs750475852 2.15 T D . . . N . T N . T T D 0.153 0.124 0.067 . . T T T T T -0.611 0.069 0.421 N N -2.023 0.008 -2.047 0.011 0.414 0.707 0.725 0.602 0.568 . 3.220 -4.380 -0.591 -3.181 -1.162 0.000 0.000 0.022 674 . . . . STIM2 113 0 204 15 0.0684931506849315 TRUE NA ENSG00000054690.14 . BCM GRCh38.p13 chr14 67582242 67582242 + G G A Intron SNP NA NA NA NA intronic ENSG00000054690.14 . . . 14q24.1 C3N-02971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHH1 201 0 372 34 0.083743842364532 TRUE TRUE ENSG00000142733.17 . BCM GRCh38.p13 chr1 27357084 27357084 + G G - Frame_Shift_Del DEL ENST00000357582.3 exon24 c.3289delC p.R1097Vfs*23 exonic ENSG00000142733.17 . frameshift deletion ENSG00000142733.17:ENST00000357582.3:exon24:c.3289delC:p.R1097Vfs*23 1p36.11 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K6 329 0 394 57 0.126385809312639 TRUE NA ENSG00000117013.17 . BCM GRCh38.p13 chr1 40838461 40838461 + G G T Missense_Mutation SNP ENST00000347132.10 exon14 c.G2026T p.D676Y exonic ENSG00000117013.17 . nonsynonymous SNV ENSG00000117013.17:ENST00000347132.10:exon14:c.G2026T:p.D676Y 1p34.2 C3N-02573 . . . . . . . . . 17.20 D D D D D D M D D 0.586 T T D 0.836 0.425 0.923 2.309 T D D D D D 4.188 28.500 0.994 D D 0.299 3.776 0.398 4.345 1.000 0.718 0.588 0.571 0.542 . 4.910 4.910 6.783 1.176 0.676 1.000 1.000 0.999 664 . . . . KCNQ4 427 0 502 60 0.106761565836299 TRUE TRUE ENSG00000143537.13 . BCM GRCh38.p13 chr1 155058014 155058014 + A A G Missense_Mutation SNP ENST00000356955.6 exon14 c.A1580G p.Y527C exonic ENSG00000143537.13 . nonsynonymous SNV ENSG00000143537.13:ENST00000356955.6:exon14:c.A1580G:p.Y527C 1q21.3 C3N-02573 . . . . . . . . . 11.20 D D D D N D M T D 0.774 T T T 0.249 . 0.680 0.928 T T T T D D 3.938 26.600 0.998 D D 0.692 7.010 0.642 6.798 1.000 0.744 0.695 0.630 0.714 . 5.100 5.100 3.067 1.298 0.740 0.146 0.992 0.991 213 ADAM,_cysteine-rich . . . ADAM15 531 0 756 95 0.111633372502938 TRUE NA ENSG00000116962.15 . BCM GRCh38.p13 chr1 235993765 235993765 + C C T Missense_Mutation SNP ENST00000264187.7 exon13 c.G2635A p.D879N exonic ENSG00000116962.15 . nonsynonymous SNV ENSG00000116962.15:ENST00000264187.7:exon13:c.G2635A:p.D879N 1q42.3 C3N-02573 . . . . . . . . . 15.20 D D D D D D M T D 0.690 D D D 0.464 0.624 0.868 0.795 T T T T D D 3.450 24.600 0.999 D D 0.655 6.538 0.598 6.199 1.000 0.706 0.710 0.710 0.714 . 5.690 5.690 5.966 1.015 0.599 1.000 0.756 0.226 424 Thyroglobulin_type-1 . . ID=COSV51614984;OCCURENCE=3(oesophagus),1(haematopoietic_and_lymphoid_tissue) NID1 407 0 481 60 0.11090573012939 TRUE TRUE ENSG00000162849.16 . BCM GRCh38.p13 chr1 245367285 245367285 + C C T Missense_Mutation SNP ENST00000407071.7 exon3 c.C917T p.S306L exonic ENSG00000162849.16 . nonsynonymous SNV ENSG00000162849.16:ENST00000407071.7:exon3:c.C917T:p.S306L 1q44 C3N-02573 . . . . . . . . rs1034978766 12.20 D D P B N D M T D 0.553 T D D 0.438 0.411 0.513 0.269 T T D T D D 2.917 23.200 0.998 D D 0.449 4.664 0.522 5.362 1.000 0.554 0.588 0.624 0.564 . 5.750 5.750 5.301 1.026 0.599 0.996 0.963 0.939 980 . . . ID=COSV68572526;OCCURENCE=1(breast),1(large_intestine),1(pleura) KIF26B 321 1 377 45 0.106635071090047 TRUE TRUE ENSG00000138039.15 . BCM GRCh38.p13 chr2 48687718 48687718 + C C G Missense_Mutation SNP ENST00000294954.12 exon11 c.G2079C p.K693N exonic ENSG00000138039.15 . nonsynonymous SNV ENSG00000138039.15:ENST00000294954.12:exon11:c.G2079C:p.K693N 2p16.3 C3N-02573 8.24e-06 0 0 0.0001 0 0 0 0 rs759440300 5.20 D D P B N D L T N 0.182 T T D 0.204 0.192 0.877 0.100 T T T T T T 1.652 16.710 0.994 D N -0.195 1.890 -0.199 1.788 0.018 0.487 0.574 0.547 0.613 . 4.700 4.700 0.352 0.088 0.549 0.140 0.502 0.815 527 . . . . LHCGR 185 0 244 21 0.0792452830188679 TRUE NA ENSG00000113916.18 . BCM GRCh38.p13 chr3 187729233 187729233 + T T C Missense_Mutation SNP ENST00000406870.7 exon5 c.A1172G p.K391R exonic ENSG00000113916.18 . nonsynonymous SNV ENSG00000113916.18:ENST00000406870.7:exon5:c.A1172G:p.K391R 3q27.3 C3N-02573 8.24e-06 0 0 0 0 0 0 6.056e-05 rs769861975 8.20 D T D D D D L T N 0.593 T T T 0.188 0.351 0.460 0.645 T T T T D T 3.416 24.500 0.999 D D 0.261 3.586 0.370 4.154 1.000 0.563 0.590 0.609 0.636 . 5.610 5.610 5.902 1.138 0.665 1.000 1.000 0.998 939 . . . . BCL6 150 0 181 24 0.117073170731707 TRUE NA ENSG00000183090.5 . BCM GRCh38.p13 chr4 143699117 143699117 + C C T Missense_Mutation SNP ENST00000329798.5 exon1 c.G1559A p.R520Q exonic ENSG00000183090.5 . nonsynonymous SNV ENSG00000183090.5:ENST00000329798.5:exon1:c.G1559A:p.R520Q 4q31.21 C3N-02573 5.049e-05 0 0.0033 0 0 0 0 0 rs532088660 1.18 T T . . N N L T D 0.106 T T T 0.085 0.533 0.048 . T T T T T T 0.138 2.453 0.968 N N -0.970 0.437 -1.147 0.330 0.999 0.447 0.563 0.563 0.530 . 4.160 -3.000 0.626 -0.299 -0.187 0.009 0.067 0.154 811 . . . . FREM3 369 0 397 50 0.111856823266219 TRUE NA ENSG00000155511.18 . BCM GRCh38.p13 chr5 153811115 153811115 + G G A Missense_Mutation SNP ENST00000285900.10 exon16 c.G2611A p.G871S exonic ENSG00000155511.18 . nonsynonymous SNV ENSG00000155511.18:ENST00000285900.10:exon16:c.G2611A:p.G871S 5q33.2 C3N-02573 1.649e-05 0 0 0.0001 0 1.5e-05 0 0 rs139089198 6.20 T T D D D D N T N 0.303 T T T 0.181 . 0.804 1.233 T T T T T D 2.032 19.500 0.401 D N -0.419 1.341 -0.200 1.786 0.971 0.487 0.574 0.574 0.564 . 3.780 3.780 4.720 1.174 0.676 1.000 0.995 0.994 792 . . . ID=COSV53613412;OCCURENCE=1(prostate) GRIA1 538 1 593 78 0.116244411326379 TRUE TRUE ENSG00000168269.10 . BCM GRCh38.p13 chr5 170108181 170108181 + G G A Missense_Mutation SNP ENST00000306268.8 exon2 c.G707A p.S236N exonic ENSG00000168269.10 . nonsynonymous SNV ENSG00000168269.10:ENST00000306268.8:exon2:c.G707A:p.S236N 5q35.1 C3N-02573 . . . . . . . . . 2.20 T T B B N N N D N 0.018 T T D 0.235 0.184 0.734 0.160 T T T T T T -0.661 0.053 0.594 N N -1.469 0.091 -1.413 0.145 0.991 0.497 0.590 0.563 0.613 . 4.910 -3.620 0.485 -0.086 -0.116 0.805 0.698 0.260 946 . . . . FOXI1 618 0 695 94 0.119138149556401 TRUE NA ENSG00000078053.17 . BCM GRCh38.p13 chr7 38476954 38476954 + G G A Missense_Mutation SNP ENST00000356264.7 exon6 c.C412T p.R138C exonic ENSG00000078053.17 . nonsynonymous SNV ENSG00000078053.17:ENST00000356264.7:exon6:c.C412T:p.R138C 7p14.1 C3N-02573 . . . . . . . . . 18.20 D D D D D D M T D 0.840 D D D 0.764 0.648 0.883 0.881 D D D D D D 4.234 29.000 0.999 D N 0.622 6.154 0.530 5.443 0.037 0.644 0.624 0.653 0.632 . 5.520 3.380 1.637 1.176 0.618 1.000 0.998 0.997 786 BAR_domain . . ID=COSV57737817;OCCURENCE=3(oesophagus),1(large_intestine),1(endometrium) AMPH 213 0 265 34 0.11371237458194 TRUE TRUE ENSG00000146834.14 . BCM GRCh38.p13 chr7 100431504 100431504 + C C T Missense_Mutation SNP ENST00000310512.4 exon1 c.C1486T p.R496C exonic ENSG00000146834.14 . nonsynonymous SNV ENSG00000146834.14:ENST00000310512.4:exon1:c.C1486T:p.R496C 7q22.1 C3N-02573 . . . . . . . . . 8.19 D D B B N D M . N 0.441 T T T 0.171 0.489 0.328 2.259 T T D T D D 2.713 22.900 0.999 D N -0.409 1.363 -0.256 1.658 1.000 0.646 0.672 0.672 0.723 . 4.680 2.870 0.730 0.103 0.599 0.996 0.397 0.241 463 Bin3-type_S-adenosyl-L-methionine_binding_domain . . ID=COSV52769750;OCCURENCE=1(large_intestine) MEPCE 421 0 520 58 0.100346020761246 TRUE TRUE ENSG00000147485.13 . BCM GRCh38.p13 chr8 51320822 51320822 + G G A Missense_Mutation SNP ENST00000356297.5 exon22 c.C4222T p.R1408C exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon22:c.C4222T:p.R1408C 8q11.22 C3N-02573 3.313e-05 0.0001 0 0.0002 0.0002 0 0 0 rs537952252 5.19 D D D P . N M T D 0.144 T T T 0.241 0.540 0.352 0.161 T T T T T T 1.641 16.640 0.987 N N -0.623 0.946 -0.843 0.699 0.000 0.554 0.574 0.618 0.564 . 4.430 0.333 0.014 -0.945 -0.633 0.000 0.000 0.003 900 VWFC_domain . . ID=COSV62487421;OCCURENCE=2(large_intestine) PXDNL 306 1 409 48 0.105032822757112 TRUE TRUE ENSG00000050555.18 . BCM GRCh38.p13 chr9 131061112 131061112 + G G A Missense_Mutation SNP ENST00000361069.9 exon13 c.G2236A p.A746T exonic ENSG00000050555.18 . nonsynonymous SNV ENSG00000050555.18:ENST00000361069.9:exon13:c.G2236A:p.A746T 9q34.12 C3N-02573 . . . . . . . . rs900991986 0.20 T T B B N N N T N 0.102 T T T 0.016 0.489 0.216 0.141 T T T T T T -1.330 0.001 0.787 N N -1.829 0.021 -1.871 0.025 1.000 0.696 0.547 0.723 0.613 . 4.790 -8.570 -4.063 -0.623 -0.116 0.000 0.001 0.005 408 Laminin_EGF_domain . . . LAMC3 526 0 553 30 0.0514579759862779 TRUE NA ENSG00000198610.11 . BCM GRCh38.p13 chr10 5204429 5204429 + C C A Nonsense_Mutation SNP ENST00000380448.5 exon5 c.C305A p.S102X exonic ENSG00000198610.11 . stopgain ENSG00000198610.11:ENST00000380448.5:exon5:c.C305A:p.S102X 10p15.1 C3N-02573 . . . . . . . . . 4.6 . . . . N A . . . 0.784 . . . . . . . . . D D . . 6.668 36 0.989 D N 0.248 3.521 -0.049 2.199 0.032 0.487 0.574 0.574 0.564 . 3.130 2.170 5.120 0.925 0.549 1.000 0.008 0.374 982 NADP-dependent_oxidoreductase_domain . . . AKR1C4 173 0 245 36 0.128113879003559 TRUE TRUE ENSG00000095787.23 . BCM GRCh38.p13 chr10 28595997 28595997 + C C G Missense_Mutation SNP ENST00000354911.9 exon7 c.C875G p.P292R exonic ENSG00000095787.23 . nonsynonymous SNV ENSG00000095787.23:ENST00000354911.9:exon7:c.C875G:p.P292R 10p12.1 C3N-02573 . . . . . . . . . 6.20 D T P B N D L T N 0.430 T T T 0.163 0.275 0.110 0.464 T T T T D D 2.943 23.300 0.994 D D 0.197 3.289 0.325 3.863 1.000 0.722 0.702 0.699 0.735 . 5.410 5.410 3.135 1.026 0.599 1.000 1.000 1.000 866 . . . . WAC 211 0 227 33 0.126923076923077 TRUE TRUE ENSG00000184014.8 . BCM GRCh38.p13 chr11 9204140 9204140 + G G T Missense_Mutation SNP ENST00000328194.8 exon4 c.C469A p.H157N exonic ENSG00000184014.8 . nonsynonymous SNV ENSG00000184014.8:ENST00000328194.8:exon4:c.C469A:p.H157N 11p15.4 C3N-02573 . . . . . . . . . 13.20 D D D D D D M T D 0.894 T T T 0.306 0.314 0.501 1.281 D T T T D D 3.894 26.300 0.993 D D 0.960 12.709 0.948 15.985 1.000 0.719 0.698 0.780 0.734 . 5.810 5.810 10.003 1.176 0.676 1.000 1.000 0.999 492 Tripartite_DENN_domain . . . DENND5A 357 1 347 46 0.11704834605598 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-02573 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 288 1 371 52 0.122931442080378 TRUE TRUE ENSG00000167548.15 . BCM GRCh38.p13 chr12 49046408 49046408 + G G A Nonsense_Mutation SNP ENST00000301067.11 exon16 c.C4435T p.Q1479X exonic ENSG00000167548.15 . stopgain ENSG00000167548.15:ENST00000301067.11:exon16:c.C4435T:p.Q1479X 12q13.12 C3N-02573 . . . . . . . . . 4.6 . . . . N A . . . 0.746 . . . . . . . . . D D . . 7.735 39 0.998 D N 1.182 22.195 1.030 20.812 1.000 0.707 0.702 0.702 0.714 . 5.230 5.230 8.117 1.176 0.676 1.000 1.000 0.998 371 . . . ID=COSV56434785;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) KMT2D 163 0 241 37 0.133093525179856 TRUE TRUE ENSG00000139618.15 . BCM GRCh38.p13 chr13 32370992 32370992 + C C T Missense_Mutation SNP ENST00000380152.7 exon20 c.C8524T p.R2842C exonic ENSG00000139618.15 . nonsynonymous SNV ENSG00000139618.15:ENST00000380152.7:exon20:c.C8524T:p.R2842C 13q13.1 C3N-02573 . . . . . . . . rs80359104 13.15 D D . . D D . D N 0.738 D D D 0.843 . 0.945 0.179 T . D D D . 4.136 28.100 0.999 D D 0.705 7.184 0.667 7.180 1.000 0.732 0.654 0.744 0.684 . 5.100 5.100 4.630 1.026 0.549 1.000 1.000 0.999 723 . . . ID=COSV66450665;OCCURENCE=5(breast),1(penis),1(oesophagus),1(large_intestine),2(biliary_tract),1(pancreas),1(skin),2(endometrium) BRCA2 221 0 262 52 0.165605095541401 TRUE TRUE ENSG00000165355.7 . BCM GRCh38.p13 chr14 39431922 39431924 + AGA AGA - In_Frame_Del DEL ENST00000298097.7 exon1 c.239_241del p.F80del exonic ENSG00000165355.7 . nonframeshift deletion ENSG00000165355.7:ENST00000298097.7:exon1:c.239_241del:p.F80del 14q21.1 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXO33 186 0 184 49 0.210300429184549 TRUE TRUE ENSG00000103657.14 . BCM GRCh38.p13 chr15 63723223 63723223 + C C T Missense_Mutation SNP ENST00000443617.7 exon19 c.G3701A p.R1234Q exonic ENSG00000103657.14 . nonsynonymous SNV ENSG00000103657.14:ENST00000443617.7:exon19:c.G3701A:p.R1234Q 15q22.31 C3N-02573 4.032e-05 0 0 0.0006 0 0 0 0 rs761166996 2.20 T T B B U N N T N 0.280 T T T 0.024 0.251 0.103 0.381 T T T T T D 2.312 21.600 0.990 D N -0.593 1.000 -0.355 1.456 0.998 0.732 0.709 0.651 0.728 . 5.540 3.650 1.959 1.026 0.599 0.985 0.990 0.998 711 . . . ID=COSV71246981;OCCURENCE=1(large_intestine) HERC1 68 0 105 12 0.102564102564103 TRUE TRUE ENSG00000166855.9 . BCM GRCh38.p13 chr15 65179039 65179039 + C C T Missense_Mutation SNP ENST00000300107.7 exon3 c.G253A p.E85K exonic ENSG00000166855.9 . nonsynonymous SNV ENSG00000166855.9:ENST00000300107.7:exon3:c.G253A:p.E85K 15q22.31 C3N-02573 . . . . . . . . . 6.20 T T B B D D L T N 0.199 T T T 0.092 0.264 0.210 0.566 T T T T D D 2.099 20.100 0.998 D D 0.022 2.590 0.171 3.043 1.000 0.707 0.725 0.725 0.714 . 4.970 4.970 4.316 1.026 0.599 1.000 0.917 0.413 627 . . . . CLPX 135 0 183 58 0.240663900414938 TRUE TRUE ENSG00000156218.13 . BCM GRCh38.p13 chr15 84025296 84025296 + C C T Missense_Mutation SNP ENST00000286744.10 exon27 c.C4516T p.R1506W exonic ENSG00000156218.13 . nonsynonymous SNV ENSG00000156218.13:ENST00000286744.10:exon27:c.C4516T:p.R1506W 15q25.2 C3N-02573 2.5e-05 0 0 0 0 3.014e-05 0 6.44e-05 rs781474522 15.20 D D D D N D H T D 0.886 D D D 0.794 0.889 0.941 0.593 T T D D D T 3.478 24.600 0.999 D D 0.890 10.787 0.769 9.267 0.965 0.638 0.670 0.602 0.613 . 5.150 5.150 2.076 1.026 0.599 1.000 0.998 0.904 634 . . . . ADAMTSL3 116 0 188 28 0.12962962962963 TRUE NA ENSG00000172831.14 . BCM GRCh38.p13 chr16 66941161 66941161 + C C G Missense_Mutation SNP ENST00000317091.10 exon6 c.C854G p.S285C exonic ENSG00000172831.14 . nonsynonymous SNV ENSG00000172831.14:ENST00000317091.10:exon6:c.C854G:p.S285C 16q22.1 C3N-02573 1.649e-05 0 0 0.0001 0 1.5e-05 0 0 rs756554216 12.16 D D . . D D . T D 0.348 D D D 0.414 . 0.801 0.702 T . T T D D 3.475 24.600 0.799 D D 0.864 10.166 0.754 8.890 1.000 0.732 0.702 0.744 0.714 . 5.400 5.400 5.297 1.000 0.599 0.945 0.258 0.631 140 . . . . CES2 197 0 314 37 0.105413105413105 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675232 7675232 + G G A Missense_Mutation SNP ENST00000269305.8 exon5 c.C380T p.S127F exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C380T:p.S127F 17p13.1 C3N-02573 . . . . . . . . rs730881999 19.20 D D D D D D M D D 0.959 D D D 0.925 0.837 0.988 1.738 T D D D D D 4.098 27.700 0.997 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=COSV52666031;OCCURENCE=1(salivary_gland),6(breast),2(liver),4(oesophagus),18(large_intestine),8(central_nervous_system),3(biliary_tract),6(ovary),2(bone),8(NS),4(stomach),4(urinary_tract),8(pancreas),11(skin),7(lung),1(thyroid),6(upper_aerodigestive_tract),2(small_intestine),3(endometrium) TP53 294 0 329 44 0.117962466487936 TRUE TRUE ENSG00000120088.15 . BCM GRCh38.p13 chr17 45834678 45834678 + C C T Missense_Mutation SNP ENST00000398285.7 exon14 c.C1249T p.R417C exonic ENSG00000120088.15;ENSG00000263715.7 . nonsynonymous SNV ENSG00000120088.15:ENST00000398285.7:exon14:c.C1249T:p.R417C,ENSG00000263715.7:ENST00000634540.1:exon15:c.C637T:p.R213C 17q21.31 C3N-02573 . . . . . . . . . 17.20 D D D D D D M T D 0.785 T T D 0.467 0.596 0.738 1.756 D D D D D D 4.220 28.800 0.999 D D 0.623 6.164 0.568 5.842 0.917 0.646 0.590 0.645 0.613 . 5.240 4.250 6.157 0.074 0.599 1.000 0.517 0.897 611 . . . ID=COSV99524313;OCCURENCE=1(upper_aerodigestive_tract) CRHR1 191 0 254 39 0.133105802047782 TRUE NA ENSG00000167280.17 . BCM GRCh38.p13 chr17 79083911 79083911 + C C T Missense_Mutation SNP ENST00000579016.6 exon10 c.C1402T p.R468W exonic ENSG00000167280.17 . nonsynonymous SNV ENSG00000167280.17:ENST00000579016.6:exon10:c.C1402T:p.R468W 17q25.3 C3N-02573 0.0002 0.0013 0 0.0002 0 7.748e-05 0 0 rs369232286 7.18 . D D B N N M T . 0.481 T T D 0.329 . 0.348 0.472 T T T T T D 2.803 23.000 0.999 D D -0.071 2.270 -0.164 1.874 0.939 0.672 0.702 0.723 0.636 . 4.820 3.820 3.494 1.026 0.599 1.000 0.035 0.022 917 . . . ID=COSV56134889;OCCURENCE=1(stomach) ENGASE 398 1 489 67 0.120503597122302 TRUE TRUE ENSG00000212710.5 . BCM GRCh38.p13 chr18 22416199 22416199 + T T G Missense_Mutation SNP ENST00000391403.4 exon1 c.A1613C p.Q538P exonic ENSG00000212710.5 . nonsynonymous SNV ENSG00000212710.5:ENST00000391403.4:exon1:c.A1613C:p.Q538P 18q11.2 C3N-02573 . . . . . . . . . 1.18 T T B B . N M T N 0.192 T T T 0.035 0.169 0.110 0.008 T T T T T . 0.710 8.545 0.744 N N -0.858 0.574 -0.963 0.537 0.004 0.554 0.588 0.618 0.564 . 0.779 0.779 1.333 0.270 0.462 0.955 0.018 0.009 910 . . . . CTAGE1 458 1 443 121 0.214539007092199 NA TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51067035 51067035 + G G T Missense_Mutation SNP ENST00000342988.8 exon10 c.G1156T p.G386C exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon10:c.G1156T:p.G386C 18q21.2 C3N-02573 . . . . . . . . rs1057519962 20.20 D D D D D D H D D 0.971 D D D 0.972 0.901 0.988 2.936 D D D D D D 4.545 32 0.996 D D 0.962 12.780 0.871 12.562 1.000 0.732 0.744 0.725 0.714 . 5.650 4.780 9.889 1.176 0.676 1.000 1.000 0.999 892 SMAD_domain,_Dwarfin-type . . ID=COSV61697840;OCCURENCE=2(large_intestine),1(ovary) SMAD4 295 0 344 50 0.126903553299492 TRUE TRUE ENSG00000142449.13 . BCM GRCh38.p13 chr19 8081016 8081016 + G G T Missense_Mutation SNP ENST00000600128.6 exon59 c.C7440A p.H2480Q exonic ENSG00000142449.13 . nonsynonymous SNV ENSG00000142449.13:ENST00000600128.6:exon59:c.C7440A:p.H2480Q 19p13.2 C3N-02573 . . . . . . . . . 5.20 T T P P U N N D D 0.185 T T D 0.336 0.486 0.770 0.214 T T T T D T 2.796 23.000 0.985 D N -0.227 1.803 -0.187 1.817 0.983 0.696 0.574 0.723 0.564 . 3.910 2.820 1.567 0.996 0.606 1.000 0.903 0.916 744 EGF-like_domain;EGF-like_calcium-binding_domain . . . FBN3 336 0 392 56 0.125 TRUE TRUE ENSG00000100412.16 . BCM GRCh38.p13 chr22 41525322 41525322 + C C G Missense_Mutation SNP ENST00000216254.9 exon14 c.C1735G p.L579V exonic ENSG00000100412.16 . nonsynonymous SNV ENSG00000100412.16:ENST00000216254.9:exon14:c.C1735G:p.L579V 22q13.2 C3N-02573 . . . . . . . . . 8.20 T T B B D D M T N 0.620 T T D 0.159 0.291 0.515 0.725 T T T T D D 1.730 17.240 0.989 D D -0.179 1.935 -0.101 2.043 1.000 0.672 0.702 0.702 0.711 . 5.870 1.430 3.136 0.127 -0.175 1.000 0.998 0.979 98 . . . . ACO2 221 0 233 87 0.271875 TRUE TRUE ENSG00000196576.15 . BCM GRCh38.p13 chr22 50287151 50287151 + G G C Missense_Mutation SNP ENST00000359337.9 exon8 c.C1722G p.C574W exonic ENSG00000196576.15 . nonsynonymous SNV ENSG00000196576.15:ENST00000359337.9:exon8:c.C1722G:p.C574W 22q13.33 C3N-02573 . . . . . . . . . 12.20 D D D D N D H T D 0.823 T T D 0.299 0.850 0.875 1.184 T D D D D T 2.926 23.300 0.993 N N -0.095 2.192 -0.332 1.500 0.693 0.672 0.702 0.723 0.711 . 4.600 -1.400 0.433 0.245 0.676 0.985 0.518 0.065 620 . . . . PLXNB2 85 0 109 31 0.221428571428571 TRUE TRUE ENSG00000130741.11 . BCM GRCh38.p13 chrX 24068043 24068043 + C C A Missense_Mutation SNP ENST00000253039.9 exon9 c.C947A p.S316Y exonic ENSG00000130741.11 . nonsynonymous SNV ENSG00000130741.11:ENST00000253039.9:exon9:c.C947A:p.S316Y Xp22.11 C3N-02573 . . . . . . . . . 17.18 D D D D D D . T D 0.833 D D D 0.674 0.747 0.969 3.504 D D D D D D 3.870 26.200 0.995 D . . . . . 1.000 . . . . . 5.240 5.240 7.466 1.015 0.589 1.000 1.000 1.000 242 Translation_elongation_factor_EFTu-like,_domain_2 . . . EIF2S3 71 0 105 7 0.0625 NA TRUE ENSG00000198173.5 . BCM GRCh38.p13 chrX 37011208 37011208 + A A T Missense_Mutation SNP ENST00000358047.5 exon1 c.A2798T p.H933L exonic ENSG00000198173.5 . nonsynonymous SNV ENSG00000198173.5:ENST00000358047.5:exon1:c.A2798T:p.H933L Xp21.1 C3N-02573 . . . . . . . . . 1.18 T T B B . N L T D 0.140 T T T 0.031 0.393 0.115 0.227 T T T T T T -0.665 0.052 0.289 N . . . . . 0.039 . . . . . 0.484 -0.967 -1.040 -1.288 -1.646 0.013 0.001 0.001 889 . . . . FAM47C 123 0 125 14 0.100719424460432 TRUE TRUE ENSG00000147041.12 . BCM GRCh38.p13 chrX 38073623 38073623 + G G A Missense_Mutation SNP ENST00000297875.7 exon5 c.G479A p.R160H exonic ENSG00000147041.12 . nonsynonymous SNV ENSG00000147041.12:ENST00000297875.7:exon5:c.G479A:p.R160H Xp11.4 C3N-02573 0.0010 0.0073 0.0018 0 0 0 0 0 rs149390993 0.19 T T B B N N N T N 0.056 T T T 0.014 . 0.088 0.041 T T T T T T -0.822 0.022 0.690 N . . . . . 1.000 . . . . . 5.530 -9.070 -2.693 -0.478 0.676 0.000 0.001 0.821 719 . . . . SYTL5 146 0 195 27 0.121621621621622 TRUE NA ENSG00000147044.21 . BCM GRCh38.p13 chrX 41853162 41853162 + A A C Missense_Mutation SNP ENST00000378163.6 exon2 c.T125G p.I42S exonic ENSG00000147044.21 . nonsynonymous SNV ENSG00000147044.21:ENST00000378163.6:exon2:c.T125G:p.I42S Xp11.4 C3N-02573 . . . . . . . . . 13.19 T T D D D D M T D 0.946 T T D 0.560 0.810 0.985 2.391 D T D D D D 3.273 24.000 0.993 D . . . . . 1.000 . . . . . 5.320 5.320 8.845 1.312 0.756 1.000 1.000 1.000 832 Protein_kinase_domain . . . CASK 228 1 309 49 0.136871508379888 TRUE TRUE ENSG00000187690.4 . BCM GRCh38.p13 chrX 51407926 51407926 + C C T Missense_Mutation SNP ENST00000342995.4 exon1 c.C910T p.R304C exonic ENSG00000187690.4 . nonsynonymous SNV ENSG00000187690.4:ENST00000342995.4:exon1:c.C910T:p.R304C Xp11.22 C3N-02573 . . . . . . . . . 4.17 D D P B N N . T D 0.119 T T T 0.098 0.265 0.117 0.285 . T T T D T 1.621 16.510 0.964 N . . . . . 0.025 . . . . . 3.260 -1.490 0.468 0.832 -0.242 0.001 0.006 0.000 242 . . . . EZHIP 617 2 645 70 0.0979020979020979 TRUE TRUE ENSG00000086758.16 . BCM GRCh38.p13 chrX 53552643 53552643 + C C A Missense_Mutation SNP ENST00000262854.11 exon62 c.G8745T p.E2915D exonic ENSG00000086758.16 . nonsynonymous SNV ENSG00000086758.16:ENST00000262854.11:exon62:c.G8745T:p.E2915D Xp11.22 C3N-02573 . . . . . . . . . 1.19 T T B B N N N T N 0.097 T T T 0.109 0.096 0.555 0.850 T T T T T T 0.982 11.400 0.856 D . . . . . 1.000 . . . . . 6.080 2.220 0.151 -0.624 -0.186 0.991 0.971 0.920 1 . . . . HUWE1 434 0 491 56 0.102376599634369 TRUE TRUE ENSG00000086758.16 . BCM GRCh38.p13 chrX 53607560 53607560 + G G C Missense_Mutation SNP ENST00000262854.11 exon25 c.C2459G p.A820G exonic ENSG00000086758.16 . nonsynonymous SNV ENSG00000086758.16:ENST00000262854.11:exon25:c.C2459G:p.A820G Xp11.22 C3N-02573 . . . . . . . . . 9.19 D T P B D D M T D 0.608 T T D 0.276 0.526 0.801 1.840 T T T T D D 3.065 23.600 0.996 D . . . . . 1.000 . . . . . 5.390 5.390 9.128 1.176 0.676 1.000 1.000 1.000 1 . . . . HUWE1 136 0 178 15 0.077720207253886 TRUE TRUE ENSG00000075461.6 . BCM GRCh38.p13 chr17 67018273 67018273 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000075461.6 ENST00000262138.4:exon2:c.304+1G>A . . 17q24.2 C3N-02573 1.651e-05 0 0 0 0 1.501e-05 0 6.073e-05 rs774987460 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.030 35 0.995 D . 1.166 21.063 1.004 19.114 1.000 0.078 0.080 0.065 0.059 0.983 4.890 4.890 9.463 1.176 0.676 1.000 0.994 0.925 634 . . . . CACNG4 156 0 219 21 0.0875 TRUE NA ENSG00000174827.14 . BCM GRCh38.p13 chr1 145686667 145686667 + A A G Silent SNP ENST00000417171.6 exon3 c.T270C p.D90D exonic ENSG00000174827.14 . synonymous SNV ENSG00000174827.14:ENST00000417171.6:exon3:c.T270C:p.D90D 1q21.1 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDZK1 95 0 126 16 0.112676056338028 NA TRUE ENSG00000075340.23 . BCM GRCh38.p13 chr2 70663656 70663656 + G G A Silent SNP ENST00000264436.9 exon16 c.C1950T p.N650N exonic ENSG00000075340.23 . synonymous SNV ENSG00000075340.23:ENST00000264436.9:exon16:c.C1950T:p.N650N 2p13.3 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52458845;OCCURENCE=1(large_intestine),1(stomach),1(pancreas),1(prostate) ADD2 340 0 380 54 0.124423963133641 TRUE TRUE ENSG00000114786.16 . BCM GRCh38.p13 chr3 51987367 51987367 + C C T Silent SNP ENST00000636358.2 exon11 c.C766T p.L256L exonic ENSG00000114786.16;ENSG00000243989.9 . synonymous SNV ENSG00000243989.9:ENST00000636358.2:exon11:c.C766T:p.L256L,ENSG00000114786.16:ENST00000463937.1:exon12:c.C1069T:p.L357L 3p21.2 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABHD14A-ACY1 330 0 356 39 0.0987341772151899 TRUE TRUE ENSG00000215262.8 . BCM GRCh38.p13 chr8 36931139 36931139 + C C T Silent SNP ENST00000399881.8 exon25 c.C2925T p.D975D exonic ENSG00000215262.8 . synonymous SNV ENSG00000215262.8:ENST00000399881.8:exon25:c.C2925T:p.D975D 8p11.23 C3N-02573 0.0046 0.0217 0.0015 0.0001 0 0.0003 0.0011 0.0196 rs60599552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67757797;OCCURENCE=1(large_intestine) KCNU1 53 0 71 13 0.154761904761905 TRUE TRUE ENSG00000059915.17 . BCM GRCh38.p13 chr10 102416757 102416757 + G G A Silent SNP ENST00000020673.6 exon2 c.C282T p.P94P exonic ENSG00000059915.17 . synonymous SNV ENSG00000059915.17:ENST00000020673.6:exon2:c.C282T:p.P94P 10q24.32 C3N-02573 4.543e-05 0 0 0.0004 0 3.223e-05 0 0 rs767634674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSD 86 0 112 26 0.188405797101449 TRUE NA ENSG00000108018.15 . BCM GRCh38.p13 chr10 106956530 106956530 + T T C Silent SNP ENST00000263054.10 exon2 c.A609G p.T203T exonic ENSG00000108018.15 . synonymous SNV ENSG00000108018.15:ENST00000263054.10:exon2:c.A609G:p.T203T 10q25.1 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORCS1 116 0 187 17 0.0833333333333333 TRUE TRUE ENSG00000010292.13 . BCM GRCh38.p13 chr12 6514803 6514803 + G G C Silent SNP ENST00000315579.10 exon9 c.G870C p.L290L exonic ENSG00000010292.13 . synonymous SNV ENSG00000010292.13:ENST00000315579.10:exon9:c.G870C:p.L290L 12p13.31 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCAPD2 164 0 220 25 0.102040816326531 TRUE TRUE ENSG00000119596.18 . BCM GRCh38.p13 chr14 74763969 74763969 + A A C Silent SNP ENST00000325680.12 exon1 c.A480C p.P160P exonic ENSG00000119596.18 . synonymous SNV ENSG00000119596.18:ENST00000325680.12:exon1:c.A480C:p.P160P 14q24.3 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YLPM1 55 0 38 6 0.136363636363636 TRUE NA ENSG00000169696.16 . BCM GRCh38.p13 chr17 81985530 81985530 + C C T Silent SNP ENST00000306739.9 exon4 c.C297T p.D99D exonic ENSG00000169696.16 . synonymous SNV ENSG00000169696.16:ENST00000306739.9:exon4:c.C297T:p.D99D 17q25.3 C3N-02573 8.288e-06 0 0 0 0 1.512e-05 0 0 rs748292573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASPSCR1 248 0 305 40 0.115942028985507 TRUE NA ENSG00000130270.16 . BCM GRCh38.p13 chr19 1796784 1796784 + G G A Silent SNP ENST00000310127.10 exon16 c.C1680T p.A560A exonic ENSG00000130270.16 . synonymous SNV ENSG00000130270.16:ENST00000310127.10:exon16:c.C1680T:p.A560A 19p13.3 C3N-02573 0.0001 0 8.826e-05 0 0 0.0002 0 6.099e-05 rs764850311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP8B3 408 0 482 62 0.113970588235294 TRUE NA ENSG00000196090.12 . BCM GRCh38.p13 chr20 42199319 42199319 + G G A Silent SNP ENST00000373187.5 exon16 c.C2412T p.A804A exonic ENSG00000196090.12 . synonymous SNV ENSG00000196090.12:ENST00000373187.5:exon16:c.C2412T:p.A804A 20q12 C3N-02573 0.0001 0 0 0.0003 0 0.0002 0 6.056e-05 rs368232579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRT 254 0 311 28 0.0825958702064897 TRUE NA ENSG00000231672.7 . BCM GRCh38.p13 chr2 217756067 217756067 + C C G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000231672.7 . . . 2q35 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIRC3 251 0 370 26 0.0656565656565657 TRUE TRUE ENSG00000163576.18 . BCM GRCh38.p13 chr3 19936288 19936288 + G G A IGR SNP NA NA NA NA intergenic ENSG00000163576.18;ENSG00000232953.1 dist=2071;dist=3981 . . 3p24.3 C3N-02573 . . . . . . . . rs994695408 1.16 D T B B . N . T N 0.043 T T T 0.042 0.441 0.055 . . . T T T T -0.216 0.472 0.620 N N -1.618 0.051 -1.723 0.047 0.997 0.554 0.588 0.547 0.621 . 1.270 -2.540 -0.942 -0.698 -1.297 0.008 0.012 0.001 759 . . . . EFHB 58 0 62 11 0.150684931506849 TRUE NA ENSG00000247925.2 . BCM GRCh38.p13 chr6 11201022 11201022 + A A G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000247925.2 . . . 6p24.2 C3N-02573 . . . . . . . . . 0.14 T T . . . N . T N 0.068 T T T 0.039 0.422 0.279 . . . T T T T -0.391 0.200 0.896 N N -1.262 0.187 -1.366 0.169 1.000 0.503 0.577 0.547 0.655 . 4.350 -3.340 -1.489 -0.163 -0.232 0.000 0.203 0.068 808 . . . . AL139807.1 233 0 292 30 0.093167701863354 TRUE TRUE ENSG00000212443.1 . BCM GRCh38.p13 chr12 98599746 98599746 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000212443.1 . . . 12q23.1 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORA53 289 0 348 19 0.0517711171662125 TRUE NA ENSG00000208027.4 . BCM GRCh38.p13 chr14 101055472 101055472 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000208027.4 . . . 14q32.31 C3N-02573 3.315e-05 0 0 0 0 4.529e-05 0 6.115e-05 rs751189950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR485 104 0 104 26 0.2 TRUE NA ENSG00000157890.17 . BCM GRCh38.p13 chr15 65916616 65916616 + C C G Intron SNP NA NA NA NA intronic ENSG00000157890.17 . . . 15q22.31 C3N-02573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEGF11 51 0 65 17 0.207317073170732 TRUE NA ENSG00000235590.7 . BCM GRCh38.p13 chr20 58840572 58840572 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000235590.7 . . . 20q13.32 C3N-02573 2.513e-05 9.872e-05 0 0 0 3.062e-05 0 0 rs776413759 0.18 T T P B . N N . N 0.228 T T T 0.083 . 0.103 . T T T T T T 1.688 16.950 0.982 N N -0.753 0.725 -0.673 0.939 1.000 0.598 0.627 0.504 0.639 . 5.080 -0.070 0.926 -0.548 -0.242 0.990 0.003 0.480 959 . . . ID=COSV58342706;OCCURENCE=1(endometrium) GNAS-AS1 216 0 240 36 0.130434782608696 TRUE NA ENSG00000116138.13 . BCM GRCh38.p13 chr1 15529262 15529262 + G G A Missense_Mutation SNP ENST00000375847.8 exon2 c.G157A p.A53T exonic ENSG00000116138.13 . nonsynonymous SNV ENSG00000116138.13:ENST00000375847.8:exon2:c.G157A:p.A53T 1p36.21 C3L-00819 . . . . . . . . . 13.20 D D D P D D M T D 0.751 T T T 0.381 . 0.620 0.611 T T D D D D 4.159 28.300 0.999 D D 0.883 10.610 0.861 12.170 1.000 0.651 0.624 0.659 0.684 . 5.650 5.650 8.090 1.167 0.676 1.000 1.000 1.000 905 DnaJ_domain . . ID=COSV61600805;OCCURENCE=1(large_intestine) DNAJC16 155 0 69 14 0.168674698795181 TRUE TRUE ENSG00000143569.19 . BCM GRCh38.p13 chr1 154255745 154255745 + C C T Missense_Mutation SNP ENST00000428931.6 exon18 c.C2147T p.S716F exonic ENSG00000143569.19 . nonsynonymous SNV ENSG00000143569.19:ENST00000428931.6:exon18:c.C2147T:p.S716F 1q21.3 C3L-00819 . . . . . . . . . 14.20 D D D D D D L T D 0.814 T T D 0.375 0.390 0.238 0.155 T D D T D D 4.090 27.700 0.995 D D 0.653 6.506 0.673 7.272 1.000 0.707 0.702 0.702 0.714 . 5.460 5.460 5.305 1.010 0.580 1.000 0.999 0.996 144 . . . . UBAP2L 264 0 239 44 0.15547703180212 TRUE TRUE ENSG00000163357.11 . BCM GRCh38.p13 chr1 155041428 155041428 + G G A Missense_Mutation SNP ENST00000295542.6 exon7 c.G563A p.R188Q exonic ENSG00000163357.11 . nonsynonymous SNV ENSG00000163357.11:ENST00000295542.6:exon7:c.G563A:p.R188Q 1q21.3 C3L-00819 8.431e-06 0.0001 0 0 0 0 0 0 rs750570779 1.20 T T B B N N N T N 0.124 T T D 0.057 0.372 0.312 0.134 T T T T T T -0.636 0.061 0.806 N N -1.849 0.019 -1.802 0.034 1.000 0.497 0.590 0.547 0.613 . 4.290 -5.060 -0.920 0.207 -0.194 0.000 0.879 0.259 234 . . . . DCST1 306 0 739 107 0.126477541371158 TRUE NA ENSG00000115705.22 . BCM GRCh38.p13 chr2 1493885 1493885 + G G A Missense_Mutation SNP ENST00000329066.9 exon11 c.G1852A p.V618M exonic ENSG00000115705.22 . nonsynonymous SNV ENSG00000115705.22:ENST00000329066.9:exon11:c.G1852A:p.V618M 2p25.3 C3L-00819 0.0157 0.1694 0.0082 0 0.0002 0.0005 0.0111 0.0005 rs10189135 1.19 T T P B N P L T N 0.123 T T . 0.210 . . 0.356 T T T T D T 0.578 7.295 0.971 N N -0.936 0.476 -1.197 0.285 1.000 0.554 0.588 0.578 0.613 . 4.840 -8.980 -1.554 -0.186 0.672 0.000 0.001 0.031 889 . . . . TPO 410 0 1027 165 0.138422818791946 TRUE NA ENSG00000115507.10 . BCM GRCh38.p13 chr2 63054109 63054109 + G G A Missense_Mutation SNP ENST00000282549.7 exon4 c.G160A p.E54K exonic ENSG00000115507.10 . nonsynonymous SNV ENSG00000115507.10:ENST00000282549.7:exon4:c.G160A:p.E54K 2p15 C3L-00819 . . . . . . . . . 20.20 D D D D D D M D D 0.881 D D D 0.958 0.886 0.978 . D D D D D D 4.676 32 0.993 D D 0.936 12.015 0.866 12.385 1.000 0.564 0.552 0.504 0.555 . 4.790 4.790 9.940 1.176 0.676 1.000 0.988 0.997 327 Homeobox_domain . . . OTX1 132 0 504 76 0.131034482758621 TRUE TRUE ENSG00000196834.12 . BCM GRCh38.p13 chr2 130508961 130508961 + T T G Missense_Mutation SNP ENST00000451531.6 exon1 c.A275C p.K92T exonic ENSG00000196834.12 . nonsynonymous SNV ENSG00000196834.12:ENST00000451531.6:exon1:c.A275C:p.K92T 2q21.1 C3L-00819 . . . . . . . . . 2.17 D D . . . N L T N 0.273 T T T 0.231 0.384 0.187 . T T T T T T 2.183 20.700 0.990 N N -0.504 1.170 -0.682 0.926 0.000 0.487 0.574 0.574 0.564 . 0.700 0.700 0.475 0.265 0.223 0.455 0.001 0.002 976 . . . . POTEI 660 1 1793 281 0.135486981677917 NA TRUE ENSG00000153253.18 . BCM GRCh38.p13 chr2 165140812 165140812 + G G A Nonsense_Mutation SNP ENST00000360093.7 exon13 c.C1858T p.R620X exonic ENSG00000153253.18 . stopgain ENSG00000153253.18:ENST00000360093.7:exon13:c.C1858T:p.R620X 2q24.3 C3L-00819 . . . . . . . . . 5.6 . . . . D A . . . 0.935 . . . . . . . . . D D . . 7.474 38 0.998 D N 0.746 7.807 0.627 6.583 0.977 0.487 0.547 0.574 0.530 . 6.070 5.190 2.172 1.176 0.676 1.000 1.000 0.998 849 Voltage-gated_Na+_ion_channel,_cytoplasmic_domain . . ID=COSV51800546;OCCURENCE=3(large_intestine),1(endometrium) SCN3A 292 0 498 77 0.133913043478261 TRUE TRUE ENSG00000231192.2 . BCM GRCh38.p13 chr3 98133281 98133281 + - NA T Frame_Shift_Ins NA ENST00000641874.1 exon2 c.585dupT p.L197Sfs*35 exonic ENSG00000231192.2 . frameshift insertion ENSG00000231192.2:ENST00000641874.1:exon2:c.585dupT:p.L197Sfs*35 3q11.2 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5H1 NA NA NA NA NA NA NA ENSG00000173230.15 . BCM GRCh38.p13 chr3 121664563 121664563 + G G A Missense_Mutation SNP ENST00000340645.9 exon22 c.C9697T p.R3233W exonic ENSG00000173230.15 . nonsynonymous SNV ENSG00000173230.15:ENST00000340645.9:exon22:c.C9697T:p.R3233W 3q13.33 C3L-00819 4.12e-05 0 0 0 0 5.996e-05 0 6.057e-05 rs745651336 13.20 D D D D D D L T D 0.812 T T D 0.348 0.483 0.789 0.535 T T T D D D 4.520 32 0.998 D D 0.637 6.320 0.655 6.986 1.000 0.732 0.725 0.744 0.711 . 5.640 5.640 3.029 1.176 0.676 1.000 0.998 0.994 387 . . . ID=COSV58859217;OCCURENCE=1(endometrium) GOLGB1 227 0 356 71 0.166276346604215 TRUE TRUE ENSG00000145198.14 . BCM GRCh38.p13 chr3 184233280 184233280 + G G A Missense_Mutation SNP ENST00000426955.6 exon3 c.G413A p.R138Q exonic ENSG00000145198.14 . nonsynonymous SNV ENSG00000145198.14:ENST00000426955.6:exon3:c.G413A:p.R138Q 3q27.1 C3L-00819 7.149e-05 0 0 0 0 0 0 0.0002 rs765197607 2.17 T T . . . D N T N 0.091 T T T 0.052 0.312 0.145 0.705 T T T T T T 2.173 20.700 0.995 D N -0.454 1.269 -0.269 1.628 0.061 0.598 0.590 0.596 0.530 . 4.370 3.490 1.492 1.176 0.676 1.000 1.000 0.995 884 VIT_domain . . . VWA5B2 91 0 311 47 0.131284916201117 TRUE NA ENSG00000145147.20 . BCM GRCh38.p13 chr4 20567313 20567313 + C C T Missense_Mutation SNP ENST00000504154.6 exon27 c.C2777T p.P926L exonic ENSG00000145147.20 . nonsynonymous SNV ENSG00000145147.20:ENST00000504154.6:exon27:c.C2777T:p.P926L 4p15.31 C3L-00819 . . . . . . . . . 20.20 D D D D D D M D D 0.917 D D D 0.946 0.834 0.930 0.954 D D D D D D 3.994 26.900 0.999 D D 0.983 13.388 0.919 14.607 1.000 0.693 0.574 0.659 0.564 . 5.670 5.670 7.905 1.026 0.599 1.000 0.990 0.964 808 EGF-like_domain;EGF-like_calcium-binding_domain . . ID=COSV56596750;OCCURENCE=1(large_intestine),1(skin) SLIT2 132 0 109 10 0.0840336134453782 TRUE TRUE ENSG00000178187.7 . BCM GRCh38.p13 chr5 178965447 178965447 + G G A Missense_Mutation SNP ENST00000320129.7 exon5 c.G1043A p.R348K exonic ENSG00000178187.7 . nonsynonymous SNV ENSG00000178187.7:ENST00000320129.7:exon5:c.G1043A:p.R348K 5q35.3 C3L-00819 . . . . . . . . . 2.20 T T P B D N N T N 0.332 T T T 0.103 0.618 0.310 1.021 T T T T D T 2.516 22.500 0.990 N N -0.148 2.028 -0.117 1.999 0.012 0.554 0.574 0.618 0.568 . 4.210 4.210 2.161 1.007 0.590 0.043 1.000 0.998 793 Zinc_finger_C2H2-type . . . ZNF454 143 0 145 29 0.166666666666667 TRUE TRUE ENSG00000146197.9 . BCM GRCh38.p13 chr6 35244678 35244678 + C C G Missense_Mutation SNP ENST00000274938.8 exon18 c.C2268G p.N756K exonic ENSG00000146197.9 . nonsynonymous SNV ENSG00000146197.9:ENST00000274938.8:exon18:c.C2268G:p.N756K 6p21.31 C3L-00819 . . . . . . . . . 13.20 D D D D D D M T D 0.641 T T D 0.385 0.775 0.554 1.134 T T T T D D 3.039 23.500 0.998 D D 0.408 4.391 0.320 3.835 0.999 0.563 0.547 0.602 0.636 . 5.670 2.960 2.205 -0.232 -0.860 1.000 0.958 0.921 248 Tyrosine-protein_kinase_ephrin_type_A/B_receptor-like;EGF-like_domain . . . SCUBE3 159 0 319 58 0.153846153846154 TRUE TRUE ENSG00000112159.12 . BCM GRCh38.p13 chr6 89680645 89680645 + G G A Missense_Mutation SNP ENST00000369393.8 exon74 c.C12209T p.T4070M exonic ENSG00000112159.12 . nonsynonymous SNV ENSG00000112159.12:ENST00000369393.8:exon74:c.C12209T:p.T4070M 6q15 C3L-00819 . . . . . . . . . 1.19 T . P B N N M T N 0.077 T T T 0.019 0.274 0.147 0.310 T T T T T T 0.530 6.816 0.739 N N -0.939 0.473 -1.021 0.464 0.659 0.646 0.654 0.696 0.636 . 5.020 -0.614 0.538 -0.113 -0.119 0.001 0.000 0.001 803 . . . ID=COSV65534599;OCCURENCE=1(large_intestine) MDN1 208 0 540 61 0.101497504159734 TRUE NA ENSG00000135333.14 . BCM GRCh38.p13 chr6 93255954 93255954 + C C G Missense_Mutation SNP ENST00000369303.9 exon13 c.G2256C p.M752I exonic ENSG00000135333.14 . nonsynonymous SNV ENSG00000135333.14:ENST00000369303.9:exon13:c.G2256C:p.M752I 6q16.1 C3L-00819 . . . . . . . . . 13.20 D D P P D D N D D 0.647 T T D 0.639 0.741 0.744 0.589 D T D D D T 3.502 24.700 0.997 D D 0.340 3.991 0.479 4.977 0.999 0.638 0.574 0.653 0.504 . 5.750 5.750 6.130 1.026 0.599 1.000 1.000 0.996 960 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . EPHA7 318 0 257 23 0.0821428571428571 TRUE TRUE ENSG00000104714.14 . BCM GRCh38.p13 chr8 673930 673931 + CT CT - Frame_Shift_Del DEL ENST00000262109.8 exon4 c.421_422del p.L142Vfs*19 exonic ENSG00000104714.14 . frameshift deletion ENSG00000104714.14:ENST00000262109.8:exon4:c.421_422del:p.L142Vfs*19 8p23.3 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERICH1 318 0 300 40 0.117647058823529 TRUE TRUE ENSG00000183117.19 . BCM GRCh38.p13 chr8 3359229 3359229 + C C T Missense_Mutation SNP ENST00000635120.2 exon21 c.G3227A p.R1076H exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon21:c.G3227A:p.R1076H 8p23.2 C3L-00819 1.651e-05 9.762e-05 0 0 0 1.5e-05 0 0 rs748686121 13.19 D D D D D D . T D 0.942 T T D 0.556 . 0.655 . T T D T D D 3.786 25.800 0.999 D D 0.628 6.222 0.568 5.841 1.000 0.487 0.574 0.574 0.564 . 5.240 5.240 7.699 1.000 0.597 1.000 0.063 0.007 964 Sushi/SCR/CCP_domain . . ID=COSV59302829;OCCURENCE=1(liver),1(oesophagus),1(large_intestine),1(kidney) CSMD1 177 0 359 48 0.117936117936118 TRUE TRUE ENSG00000164743.5 . BCM GRCh38.p13 chr8 13567179 13567179 + G G T Missense_Mutation SNP ENST00000297324.5 exon1 c.G188T p.S63I exonic ENSG00000164743.5 . nonsynonymous SNV ENSG00000164743.5:ENST00000297324.5:exon1:c.G188T:p.S63I 8p22 C3L-00819 . . . . . . . . . 1.19 T T B B N N L T D 0.058 T T T 0.044 0.159 0.107 . . T T T T T 0.460 6.081 0.730 N N -1.250 0.194 -1.314 0.200 0.998 0.455 0.574 0.607 0.665 . 5.220 -1.880 -0.088 -0.566 -0.797 0.000 0.000 0.012 974 . . . . C8orf48 197 1 242 40 0.141843971631206 TRUE TRUE ENSG00000156345.17 . BCM GRCh38.p13 chr9 87974385 87974385 + G G C Missense_Mutation SNP ENST00000325303.8 exon1 c.C62G p.A21G exonic ENSG00000156345.17 . nonsynonymous SNV ENSG00000156345.17:ENST00000325303.8:exon1:c.C62G:p.A21G 9q22.1 C3L-00819 . . . . . . . . . 7.20 T T P P D D L T D 0.677 T T T 0.261 0.937 0.460 0.126 T T T T D D 3.410 24.400 0.988 D D 0.332 3.948 0.379 4.211 1.000 0.652 0.608 0.641 0.555 . 4.140 4.140 4.890 0.862 0.584 1.000 1.000 0.955 953 Protein_kinase_domain;Protein_kinase,_ATP_binding_site . . . CDK20 113 0 300 30 0.0909090909090909 TRUE TRUE ENSG00000136830.12 . BCM GRCh38.p13 chr9 127508173 127508173 + G G A Missense_Mutation SNP ENST00000373312.4 exon12 c.C1462T p.R488W exonic ENSG00000136830.12 . nonsynonymous SNV ENSG00000136830.12:ENST00000373312.4:exon12:c.C1462T:p.R488W 9q34.11 C3L-00819 1.663e-05 0 0 0 0 3.029e-05 0 0 rs772145640 17.20 D D D D D D M T D 0.930 T T D 0.439 0.598 0.334 0.963 D D D D D D 4.134 28.000 0.999 D D 0.592 5.843 0.531 5.455 1.000 0.707 0.588 0.723 0.714 . 4.930 3.970 1.272 1.101 0.590 1.000 0.976 0.866 523 . . . ID=COSV55941898;OCCURENCE=1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue) NIBAN2 183 0 458 102 0.182142857142857 TRUE TRUE ENSG00000150275.18 . BCM GRCh38.p13 chr10 54195807 54195807 + T T A Missense_Mutation SNP ENST00000320301.10 exon11 c.A1181T p.Y394F exonic ENSG00000150275.18 . nonsynonymous SNV ENSG00000150275.18:ENST00000320301.10:exon11:c.A1181T:p.Y394F 10q21.1 C3L-00819 . . . . . . . . . 9.19 D D D D . D L T N 0.656 T T T 0.221 0.306 0.733 0.198 T T T T D D 3.037 23.500 0.981 D D 0.567 5.602 0.551 5.654 0.995 0.487 0.574 0.574 0.564 . 5.170 5.170 7.986 1.118 0.609 1.000 0.994 0.890 937 Cadherin-like . . . PCDH15 340 0 291 46 0.136498516320475 TRUE TRUE ENSG00000122852.15 . BCM GRCh38.p13 chr10 79611949 79611949 + C C T Missense_Mutation SNP ENST00000398636.8 exon3 c.C124T p.P42S exonic ENSG00000122852.15 . nonsynonymous SNV ENSG00000122852.15:ENST00000398636.8:exon3:c.C124T:p.P42S 10q22.3 C3L-00819 . . . . . . . . . 10.20 D D D D D D M T D 0.385 T T T 0.212 0.671 0.585 0.136 T T T T D D 2.336 21.800 0.999 N N 0.396 4.322 0.224 3.302 0.001 0.447 0.563 0.547 0.646 . 2.630 2.630 1.004 0.917 0.519 0.216 0.541 0.132 702 . . . . SFTPA1 150 0 520 81 0.13477537437604 NA TRUE ENSG00000132746.15 . BCM GRCh38.p13 chr11 67665542 67665542 + C C T Missense_Mutation SNP ENST00000673966.1 exon7 c.G449A p.R150H exonic ENSG00000132746.15 . nonsynonymous SNV ENSG00000132746.15:ENST00000673966.1:exon7:c.G449A:p.R150H 11q13.2 C3L-00819 0.0002 0.0010 0 0.0001 0.0002 9e-05 0 6.058e-05 rs150455483 13.20 D D D D U D H T D 0.806 D D D 0.649 . 0.867 0.860 T T T D T D 3.089 23.600 0.997 D N 0.288 3.719 0.110 2.777 1.000 0.526 0.616 0.600 0.584 . 4.060 2.130 4.734 0.125 -0.179 1.000 0.807 0.804 774 Aldehyde_dehydrogenase_domain . . ID=COSV62429131;OCCURENCE=3(large_intestine) ALDH3B2 225 0 642 104 0.13941018766756 NA TRUE ENSG00000149311.18 . BCM GRCh38.p13 chr11 108289655 108289655 + T T - Frame_Shift_Del DEL ENST00000278616.8 exon29 c.4290delT p.N1430Kfs*21 exonic ENSG00000149311.18 . frameshift deletion ENSG00000149311.18:ENST00000278616.8:exon29:c.4290delT:p.N1430Kfs*21 11q22.3 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATM 85 0 50 5 0.0909090909090909 TRUE TRUE ENSG00000259571.2 . BCM GRCh38.p13 chr11 122115881 122115881 + G G T Missense_Mutation SNP ENST00000560104.2 exon1 c.C42A p.F14L exonic ENSG00000259571.2 . nonsynonymous SNV ENSG00000259571.2:ENST00000560104.2:exon1:c.C42A:p.F14L 11q24.1 C3L-00819 1.66e-05 0 0 0.0001 0 1.51e-05 0 0 rs749390802 1.17 . . B B . N N T D 0.209 T T T 0.031 0.343 0.836 0.055 T T T T T T 1.176 13.450 0.911 N N -0.794 0.664 -0.832 0.713 1.000 0.578 0.616 0.600 0.742 . 4.780 1.830 -0.040 0.120 0.618 0.000 0.025 0.039 921 . . . . BLID 81 0 130 24 0.155844155844156 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-00819 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 267 0 226 32 0.124031007751938 TRUE TRUE ENSG00000123352.18 . BCM GRCh38.p13 chr12 49522790 49522790 + C C T Nonsense_Mutation SNP ENST00000552918.6 exon12 c.C1048T p.R350X exonic ENSG00000123352.18 . stopgain ENSG00000123352.18:ENST00000552918.6:exon12:c.C1048T:p.R350X 12q13.12 C3L-00819 . . . . . . . . . 4.6 . . . . D A . . . 0.510 . . . . . . . . . D D . . 5.760 34 0.998 N N 0.346 4.027 0.137 2.892 0.020 0.732 0.725 0.744 0.714 . 5.840 2.870 0.050 0.072 0.599 0.045 0.992 0.986 170 . . . . SPATS2 168 0 176 14 0.0736842105263158 TRUE NA ENSG00000102554.14 . BCM GRCh38.p13 chr13 73062216 73062216 + T T - Frame_Shift_Del DEL ENST00000377687.6 exon2 c.617delT p.F207Sfs*26 exonic ENSG00000102554.14 . frameshift deletion ENSG00000102554.14:ENST00000377687.6:exon2:c.617delT:p.F207Sfs*26 13q22.1 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLF5 214 0 384 54 0.123287671232877 TRUE TRUE ENSG00000137807.15 . BCM GRCh38.p13 chr15 69422368 69422368 + G G A Missense_Mutation SNP ENST00000260363.9 exon6 c.G496A p.E166K exonic ENSG00000137807.15 . nonsynonymous SNV ENSG00000137807.15:ENST00000260363.9:exon6:c.G496A:p.E166K 15q23 C3L-00819 . . . . . . . . rs924358072 14.20 D D D P D D M T D 0.600 T T D 0.561 . 0.821 0.891 T D D D D D 4.043 27.300 0.998 D N 0.154 3.106 0.089 2.691 1.000 0.707 0.725 0.725 0.714 . 5.120 4.210 3.968 1.176 0.618 1.000 1.000 0.998 848 Kinesin_motor_domain . . . KIF23 100 0 92 12 0.115384615384615 TRUE NA ENSG00000225614.4 . BCM GRCh38.p13 chr16 88435079 88435079 + G G A Missense_Mutation SNP ENST00000565624.3 exon3 c.G7609A p.E2537K exonic ENSG00000225614.4 . nonsynonymous SNV ENSG00000225614.4:ENST00000565624.3:exon3:c.G7609A:p.E2537K 16q24.2 C3L-00819 . . . . . . . . . 3.16 T T . . . N . T N 0.196 T T D 0.062 0.176 0.126 . T T T T D T 2.232 21.100 0.992 D N -0.242 1.761 -0.305 1.554 0.846 0.701 0.588 0.717 0.655 . 4.410 3.430 2.439 1.075 0.618 0.903 0.036 0.130 . . . . . ZNF469 299 0 807 126 0.135048231511254 TRUE TRUE ENSG00000074755.15 . BCM GRCh38.p13 chr17 4025004 4025004 + C C G Missense_Mutation SNP ENST00000381638.7 exon43 c.G7007C p.S2336T exonic ENSG00000074755.15 . nonsynonymous SNV ENSG00000074755.15:ENST00000381638.7:exon43:c.G7007C:p.S2336T 17p13.2 C3L-00819 . . . . . . . . . 0.20 T T B B N N N T N 0.157 T T T 0.079 0.096 0.043 0.136 T T T T T T 1.469 15.540 0.208 N N -0.691 0.829 -0.427 1.325 0.001 0.707 0.725 0.725 0.714 . 5.800 2.590 2.902 0.215 -0.121 1.000 0.999 0.997 220 . . . . ZZEF1 573 0 911 134 0.12822966507177 TRUE TRUE ENSG00000198844.12 . BCM GRCh38.p13 chr17 8319552 8319552 + C C T Missense_Mutation SNP ENST00000361926.8 exon15 c.C2323T p.R775W exonic ENSG00000198844.12 . nonsynonymous SNV ENSG00000198844.12:ENST00000361926.8:exon15:c.C2323T:p.R775W 17p13.1 C3L-00819 0.0249 0.0183 0.0156 0.0001 0.0101 0.0283 0.0235 0.0423 rs79993581 4.18 D D D B N N . T N 0.146 T T . 0.133 . . 0.171 T T T T T T 2.251 21.200 0.997 D N -0.055 2.322 -0.006 2.339 0.146 0.707 0.590 0.602 0.714 . 5.480 4.480 1.921 0.126 0.599 0.940 0.344 0.472 641 . KRBA2;NLGN2 Colon_Sigmoid;Muscle_Skeletal . ARHGEF15 95 0 176 22 0.111111111111111 TRUE NA ENSG00000109046.15 . BCM GRCh38.p13 chr17 27311616 27311616 + G G A Missense_Mutation SNP ENST00000262394.7 exon8 c.G1106A p.G369E exonic ENSG00000109046.15 . nonsynonymous SNV ENSG00000109046.15:ENST00000262394.7:exon8:c.G1106A:p.G369E 17q11.1 C3L-00819 . . . . . . . . . 17.20 D D D D D D M T D 0.992 D D D 0.851 0.835 0.397 0.615 D T D D D T 5.833 35 0.998 D D 1.028 14.813 0.927 14.958 1.000 0.707 0.725 0.725 0.711 . 5.010 5.010 9.832 1.176 0.676 1.000 1.000 0.994 119 WD40-repeat-containing_domain . . . WSB1 115 0 148 26 0.149425287356322 TRUE TRUE ENSG00000167131.17 . BCM GRCh38.p13 chr17 44902637 44902642 + GAGCCG GAGCCG - In_Frame_Del DEL ENST00000417826.3 exon4 c.549_554del p.S184_R185del exonic ENSG00000167131.17 . nonframeshift deletion ENSG00000167131.17:ENST00000417826.3:exon4:c.549_554del:p.S184_R185del 17q21.31 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC103 510 0 1311 110 0.0774102744546094 TRUE TRUE ENSG00000118271.11 . BCM GRCh38.p13 chr18 31598599 31598599 + G G A Missense_Mutation SNP ENST00000237014.8 exon4 c.G368A p.R123H exonic ENSG00000118271.11 . nonsynonymous SNV ENSG00000118271.11:ENST00000237014.8:exon4:c.G368A:p.R123H 18q12.1 C3L-00819 4.121e-05 0.0004 0 0 0 0 0 6.058e-05 rs148538950 14.20 D D P B D D M D N 0.786 D D D 0.566 . 0.996 0.932 T D T D T D 3.542 24.800 0.991 D D 0.446 4.642 0.391 4.298 1.000 0.487 0.547 0.547 0.564 . 5.980 5.980 7.679 1.176 0.618 1.000 0.047 0.016 705 Transthyretin/hydroxyisourate_hydrolase_domain . . ID=COSV52701523;OCCURENCE=1(large_intestine) TTR 709 0 1732 230 0.117227319062181 TRUE TRUE ENSG00000130300.9 . BCM GRCh38.p13 chr19 17365834 17365834 + G G A Missense_Mutation SNP ENST00000252590.9 exon3 c.C631T p.R211C exonic ENSG00000130300.9 . nonsynonymous SNV ENSG00000130300.9:ENST00000252590.9:exon3:c.C631T:p.R211C 19p13.11 C3L-00819 8.244e-06 0 0 0 0 1.5e-05 0 0 rs772839272 5.19 D D D P N N L . D 0.423 T T T 0.090 0.525 0.220 1.015 T T T T D T 2.747 22.900 0.997 N N -0.489 1.198 -0.693 0.910 0.016 0.615 0.588 0.573 0.655 . 5.040 -1.990 0.291 1.146 0.618 0.000 0.008 0.148 769 . . . ID=COSV53087213;OCCURENCE=1(prostate),1(lung) PLVAP 276 0 721 101 0.12287104622871 TRUE TRUE ENSG00000167642.13 . BCM GRCh38.p13 chr19 38290154 38290154 + C C T Missense_Mutation SNP ENST00000301244.12 exon5 c.C427T p.R143C exonic ENSG00000167642.13;ENSG00000267748.4 . nonsynonymous SNV ENSG00000167642.13:ENST00000301244.12:exon5:c.C427T:p.R143C 19q13.2 C3L-00819 8.24e-06 0 0 0 0 0 0 6.058e-05 rs755052415 17.20 D D D D D D M T D 0.659 D D D 0.499 0.661 0.865 1.381 T T D D D D 3.891 26.300 0.999 D D 0.780 8.399 0.634 6.675 1.000 0.706 0.710 0.725 0.655 . 5.550 5.550 2.078 1.026 0.599 1.000 0.705 0.163 617 Pancreatic_trypsin_inhibitor_Kunitz_domain . . . SPINT2 361 0 1035 161 0.134615384615385 TRUE NA ENSG00000196263.8 . BCM GRCh38.p13 chr19 56525320 56525320 + G G A Missense_Mutation SNP ENST00000308031.10 exon5 c.G1253A p.R418H exonic ENSG00000196263.8 . nonsynonymous SNV ENSG00000196263.8:ENST00000308031.10:exon5:c.G1253A:p.R418H 19q13.43 C3L-00819 4.12e-05 0 0 0 0.0002 2.997e-05 0.0011 6.059e-05 rs578040016 4.19 D D B B . D L T N 0.103 T T T 0.112 . 0.641 0.514 T T T T T T 2.590 22.600 0.992 N D -0.317 1.574 -0.320 1.524 0.236 0.554 0.574 0.602 0.564 . 3.580 2.520 1.921 -0.386 -0.154 0.011 0.996 0.997 988 Zinc_finger_C2H2-type . . . ZNF471 222 0 202 35 0.147679324894515 TRUE NA ENSG00000124212.6 . BCM GRCh38.p13 chr20 49514320 49514320 + C C T Missense_Mutation SNP ENST00000244043.5 exon7 c.G931A p.G311R exonic ENSG00000124212.6 . nonsynonymous SNV ENSG00000124212.6:ENST00000244043.5:exon7:c.G931A:p.G311R 20q13.13 C3L-00819 5.788e-05 0.0002 0 0.0002 0 0 0 0.0002 rs561823415 0.20 T T B B N N L T N 0.178 T T T 0.059 . 0.676 0.128 T T T T T T 0.761 9.012 0.471 N N -0.737 0.752 -0.779 0.788 0.977 0.706 0.590 0.710 0.586 . 4.100 3.130 0.689 1.026 0.594 0.000 0.069 0.057 437 . . . ID=COSV54840430;OCCURENCE=1(lung) PTGIS 444 0 1038 143 0.12108382726503 TRUE TRUE ENSG00000185666.15 . BCM GRCh38.p13 chr22 32518188 32518188 + G G A Missense_Mutation SNP ENST00000358763.7 exon13 c.C1465T p.R489W exonic ENSG00000185666.15 . nonsynonymous SNV ENSG00000185666.15:ENST00000358763.7:exon13:c.C1465T:p.R489W 22q12.3 C3L-00819 9.957e-05 0.0007 8.642e-05 0.0001 0 1.505e-05 0 0.0001 rs151051257 12.20 D D D D D D M T N 0.556 T T D 0.222 . 0.340 0.769 T T T D T D 4.387 31 0.999 D D 0.742 7.755 0.724 8.217 0.029 0.707 0.574 0.725 0.564 . 5.970 4.930 2.958 1.176 0.676 1.000 0.999 0.936 619 . . . ID=COSV60504082;OCCURENCE=2(large_intestine) SYN3 97 0 188 23 0.109004739336493 TRUE TRUE ENSG00000100399.16 . BCM GRCh38.p13 chr22 41238735 41238735 + G G C Missense_Mutation SNP ENST00000216241.14 exon3 c.C337G p.L113V exonic ENSG00000100399.16 . nonsynonymous SNV ENSG00000100399.16:ENST00000216241.14:exon3:c.C337G:p.L113V 22q13.2 C3L-00819 . . . . . . . . . 0.20 T T B B N N N T N 0.165 T T T 0.041 0.345 0.283 0.027 T T T T T T 1.466 15.520 0.836 N N -0.444 1.289 -0.246 1.679 1.000 0.403 0.547 0.587 0.563 . 4.900 2.490 2.122 1.176 0.676 1.000 0.998 1.000 158 . . . . CHADL 166 0 509 85 0.143097643097643 TRUE TRUE ENSG00000146950.13 . BCM GRCh38.p13 chrX 9898202 9898202 + G G A Missense_Mutation SNP ENST00000380913.8 exon5 c.G2803A p.E935K exonic ENSG00000146950.13 . nonsynonymous SNV ENSG00000146950.13:ENST00000380913.8:exon5:c.G2803A:p.E935K Xp22.2 C3L-00819 . . . . . . . . rs1002335210 5.19 D T D B N N L T N 0.239 T T D 0.090 0.290 0.296 0.366 T T T T D T 2.284 21.500 0.984 D . . . . . 1.000 . . . . . 4.630 3.770 4.771 0.154 0.676 0.774 0.029 0.511 937 . . . . SHROOM2 179 0 279 80 0.222841225626741 TRUE NA ENSG00000182798.10 . BCM GRCh38.p13 chrX 16170425 16170425 + C C T Missense_Mutation SNP ENST00000400004.6 exon2 c.C43T p.R15C exonic ENSG00000182798.10 . nonsynonymous SNV ENSG00000182798.10:ENST00000400004.6:exon2:c.C43T:p.R15C Xp22.2 C3L-00819 0 0 0 0 0 0 0 0 rs763866721 3.17 T T . . N N L T D 0.261 T T T 0.062 0.319 0.061 0.401 T T T T D D 2.505 22.400 0.996 N . . . . . 0.451 . . . . . 2.720 0.504 -0.092 -0.034 0.599 0.002 0.387 0.836 422 Melanoma_associated_antigen,_N-terminal . . ID=COSV61556951;OCCURENCE=1(large_intestine) MAGEB17 34 0 135 49 0.266304347826087 TRUE TRUE ENSG00000147050.15 . BCM GRCh38.p13 chrX 45079158 45079158 + T T C Missense_Mutation SNP ENST00000377967.8 exon20 c.T2951C p.F984S exonic ENSG00000147050.15 . nonsynonymous SNV ENSG00000147050.15:ENST00000377967.8:exon20:c.T2951C:p.F984S Xp11.3 C3L-00819 . . . . . . . . . 18.19 D D D D D D M T D 0.930 D D D 0.933 . 0.965 2.253 D D D D D D 4.247 29.100 0.999 D . . . . . 1.000 . . . . . 5.460 5.460 7.674 1.138 0.665 1.000 1.000 0.999 611 . . . ID=COSV65043243;OCCURENCE=2(urinary_tract) KDM6A 125 0 87 20 0.186915887850467 TRUE TRUE ENSG00000204410.16 . BCM GRCh38.p13 chr6 31740615 31740615 + T T G Splice_Site SNP NA NA NA NA splicing ENSG00000204410.16;ENSG00000255152.8 ENST00000375750.9:exon2:c.147+2T>G;ENST00000493662.6:exon2:c.147+2T>G . . 6p21.33 C3L-00819 . . . . . . . . . 3.3 . . . . . . . . . . . . . . . . . . . D D . . 4.456 32 0.975 D . 0.858 10.019 0.664 7.126 1.000 0.020 0.074 0.036 0.105 0.744 4.640 3.500 1.593 0.135 0.587 0.976 0.011 0.547 889 . . . . MSH5 71 1 173 23 0.11734693877551 TRUE TRUE ENSG00000186094.17 . BCM GRCh38.p13 chr1 48539650 48539650 + C C T Silent SNP ENST00000371839.6 exon12 c.G1356A p.P452P exonic ENSG00000186094.17 . synonymous SNV ENSG00000186094.17:ENST00000371839.6:exon12:c.G1356A:p.P452P 1p33 C3L-00819 . . . . . . . . rs927622923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGBL4 80 0 115 31 0.212328767123288 TRUE NA ENSG00000075391.16 . BCM GRCh38.p13 chr1 178458454 178458454 + G G A Silent SNP ENST00000462775.5 exon12 c.G2739A p.Q913Q exonic ENSG00000075391.16 . synonymous SNV ENSG00000075391.16:ENST00000462775.5:exon12:c.G2739A:p.Q913Q 1q25.2 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASAL2 153 0 571 55 0.0878594249201278 TRUE TRUE ENSG00000153820.13 . BCM GRCh38.p13 chr2 228017527 228017527 + C C T Silent SNP ENST00000392056.8 exon7 c.G3327A p.P1109P exonic ENSG00000153820.13 . synonymous SNV ENSG00000153820.13:ENST00000392056.8:exon7:c.G3327A:p.P1109P 2q36.3 C3L-00819 8.461e-05 0 0 0.0011 0 0 0 6.203e-05 rs199683355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPHKAP 90 0 252 31 0.109540636042403 TRUE NA ENSG00000173230.15 . BCM GRCh38.p13 chr3 121696773 121696773 + G G A Silent SNP ENST00000340645.9 exon13 c.C3735T p.D1245D exonic ENSG00000173230.15 . synonymous SNV ENSG00000173230.15:ENST00000340645.9:exon13:c.C3735T:p.D1245D 3q13.33 C3L-00819 2.472e-05 0 0 0 0 2.997e-05 0 6.057e-05 rs759460081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61464925;OCCURENCE=1(large_intestine),1(central_nervous_system),1(stomach),1(lung),1(thyroid) GOLGB1 204 0 269 34 0.112211221122112 TRUE TRUE ENSG00000146005.4 . BCM GRCh38.p13 chr5 139817550 139817550 + C C T Silent SNP ENST00000274710.4 exon5 c.C1086T p.D362D exonic ENSG00000146005.4 . synonymous SNV ENSG00000146005.4:ENST00000274710.4:exon5:c.C1086T:p.D362D 5q31.2 C3L-00819 4.943e-05 0 0 0 0 7.494e-05 0 6.056e-05 rs747518596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51199034;OCCURENCE=1(breast),1(large_intestine) PSD2 168 0 415 53 0.113247863247863 TRUE TRUE ENSG00000178409.13 . BCM GRCh38.p13 chr6 107069160 107069160 + G G A Silent SNP ENST00000429433.3 exon5 c.C2031T p.P677P exonic ENSG00000178409.13 . synonymous SNV ENSG00000178409.13:ENST00000429433.3:exon5:c.C2031T:p.P677P 6q21 C3L-00819 1.714e-05 0 0 0.0001 0.0002 0 0 0 rs781978327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BEND3 154 0 454 72 0.136882129277567 TRUE NA ENSG00000158941.16 . BCM GRCh38.p13 chr8 22619208 22619208 + G G A Silent SNP ENST00000308511.8 exon20 c.G2580A p.E860E exonic ENSG00000158941.16 . synonymous SNV ENSG00000158941.16:ENST00000308511.8:exon20:c.G2580A:p.E860E 8p21.3 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCAR2 254 0 760 112 0.128440366972477 TRUE NA ENSG00000148704.13 . BCM GRCh38.p13 chr10 117137898 117137898 + C C T Silent SNP ENST00000369206.6 exon1 c.G159A p.A53A exonic ENSG00000148704.13 . synonymous SNV ENSG00000148704.13:ENST00000369206.6:exon1:c.G159A:p.A53A 10q25.3 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAX1 334 0 1092 128 0.104918032786885 TRUE TRUE ENSG00000174885.12 . BCM GRCh38.p13 chr11 281006 281006 + C C G Silent SNP ENST00000312165.5 exon4 c.C1272G p.T424T exonic ENSG00000174885.12 . synonymous SNV ENSG00000174885.12:ENST00000312165.5:exon4:c.C1272G:p.T424T 11p15.5 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLRP6 229 0 610 63 0.0936106983655275 TRUE TRUE ENSG00000174669.12 . BCM GRCh38.p13 chr11 66365945 66365945 + G G A Silent SNP ENST00000357440.7 exon10 c.C1050T p.Y350Y exonic ENSG00000174669.12 . synonymous SNV ENSG00000174669.12:ENST00000357440.7:exon10:c.C1050T:p.Y350Y 11q13.2 C3L-00819 . . . . . . . . . 4.17 D D B B . D . T N 0.340 T T T 0.058 0.608 0.136 . . T T T T T 0.769 9.085 0.998 D N -0.199 1.879 -0.070 2.135 1.000 0.632 0.694 0.698 0.655 . 5.550 3.680 1.351 1.176 0.676 0.920 1.000 0.992 61 . . . . SLC29A2 487 0 892 117 0.11595639246779 TRUE TRUE ENSG00000205978.6 . BCM GRCh38.p13 chr14 24417020 24417020 + G G A Silent SNP ENST00000382554.4 exon9 c.G5271A p.P1757P exonic ENSG00000205978.6 . synonymous SNV ENSG00000205978.6:ENST00000382554.4:exon9:c.G5271A:p.P1757P 14q12 C3L-00819 2.635e-05 0 0 0 0 3.105e-05 0 7.865e-05 rs368739121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NYNRIN 38 0 130 17 0.115646258503401 TRUE NA ENSG00000172150.4 . BCM GRCh38.p13 chr17 3198127 3198127 + C C T Silent SNP ENST00000381951.1 exon1 c.C609T p.V203V exonic ENSG00000172150.4 . synonymous SNV ENSG00000172150.4:ENST00000381951.1:exon1:c.C609T:p.V203V 17p13.3 C3L-00819 7.515e-05 0.0009 0 0 0 0 0 0 rs150553361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67936059;OCCURENCE=1(central_nervous_system),1(skin),1(endometrium) OR1A2 39 0 55 8 0.126984126984127 TRUE TRUE ENSG00000130477.15 . BCM GRCh38.p13 chr19 17633118 17633118 + G G A Silent SNP ENST00000519716.6 exon27 c.C3291T p.Y1097Y exonic ENSG00000130477.15 . synonymous SNV ENSG00000130477.15:ENST00000519716.6:exon27:c.C3291T:p.Y1097Y 19p13.11 C3L-00819 0.0010 0.0106 0.0008 0 0 8.997e-05 0 0.0002 rs113090566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99409595;OCCURENCE=1(breast) UNC13A 115 0 185 26 0.123222748815166 TRUE NA ENSG00000186810.8 . BCM GRCh38.p13 chrX 71616488 71616488 + C C T Silent SNP ENST00000373693.4 exon2 c.G984A p.R328R exonic ENSG00000186810.8 . synonymous SNV ENSG00000186810.8:ENST00000373693.4:exon2:c.G984A:p.R328R Xq13.1 C3L-00819 1.215e-05 0 0 0 0 2.197e-05 0 0 rs747616337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CXCR3 66 0 222 37 0.142857142857143 TRUE NA ENSG00000279804.2 . BCM GRCh38.p13 chr1 13234857 13234857 + G G A IGR SNP NA NA NA NA intergenic ENSG00000279804.2;ENSG00000250894.1 dist=8751;dist=11006 . . 1p36.21 C3L-00819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRAMEF18 10 0 18 4 0.181818181818182 TRUE NA ENSG00000152763.17 . BCM GRCh38.p13 chr1 66925033 66925033 + A A G 5'Flank SNP NA NA NA NA upstream ENSG00000152763.17 dist=177 . . 1p31.3 C3L-00819 . . . . . . . . . 7.15 D D . . . D . T N 0.361 T T D 0.058 0.117 0.227 1.887 D . T T D T 3.509 24.700 0.990 D N -0.162 1.987 -0.025 2.277 1.000 0.267 0.484 0.520 0.562 . 3.880 3.880 1.313 1.117 0.647 1.000 1.000 0.998 831 . . . . WDR78 80 0 228 34 0.129770992366412 TRUE TRUE ENSG00000240707.3 . BCM GRCh38.p13 chr10 133081893 133081893 + G G A IGR SNP NA NA NA NA intergenic ENSG00000240707.3;ENSG00000256925.3 dist=105539;dist=1587 . . 10q26.3 C3L-00819 0.0001 0 0 0 0 0.0003 0 0 rs756879823 0.12 . . B B . . . . . 0.106 T T T 0.101 0.071 0.043 . T . T T T T 0.004 1.359 0.499 N N -1.544 0.069 -1.698 0.052 0.001 0.057 0.063 0.074 0.063 . 0.891 -1.780 -1.636 -0.469 -1.013 0.000 0.000 0.000 981 . . . . LINC01168 239 0 676 119 0.149685534591195 TRUE NA ENSG00000152402.11 . BCM GRCh38.p13 chr11 106936684 106936684 + G G A Intron SNP NA NA NA NA intronic ENSG00000152402.11 . . . 11q22.3 C3L-00819 . . . . . . . . . 2.14 T T . . . N . D N 0.074 T T D 0.137 0.570 0.570 . . . T T T T -0.442 0.157 0.887 N N -1.169 0.249 -1.263 0.235 0.000 0.487 0.574 0.547 0.564 . 3.020 -0.256 -0.634 -0.848 -0.886 0.000 0.000 0.001 888 . . . ID=COSV104388828;OCCURENCE=1(large_intestine) GUCY1A2 141 0 172 29 0.144278606965174 TRUE NA ENSG00000261069.3 . BCM GRCh38.p13 chr15 25088363 25088363 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000261069.3 . . . 15q11.2 C3L-00819 . . . . . . . . rs944114015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC124312.3 113 0 248 39 0.13588850174216 TRUE NA ENSG00000266887.1 . BCM GRCh38.p13 chr22 48850846 48850846 + G G A IGR SNP NA NA NA NA intergenic ENSG00000266887.1;ENSG00000205632.4 dist=70493;dist=15924 . . 22q13.32 C3L-00819 0.0005 0 0 0 0 0 0 0.0011 rs374939649 1.11 D T . . . . . . N . T T . 0.016 0.176 0.014 . . . T T T T -0.075 0.934 0.313 N N -1.063 0.341 -1.293 0.213 0.000 0.554 0.574 0.602 0.564 . 1.100 -0.400 -1.430 -2.058 -2.430 0.000 0.000 0.000 992 . . . . MIR4535 133 0 369 51 0.121428571428571 TRUE NA ENSG00000188886.3 . BCM GRCh38.p13 chr2 96135355 96135355 + C C T Missense_Mutation SNP ENST00000342380.2 exon3 c.G239A p.R80Q exonic ENSG00000188886.3 . nonsynonymous SNV ENSG00000188886.3:ENST00000342380.2:exon3:c.G239A:p.R80Q 2q11.2 C3N-01714 8.351e-06 0 0 0 0 1.514e-05 0 0 rs373382016 2.20 T T D P N N L T N 0.309 T T D 0.158 . 0.727 0.218 T T T T T T 2.487 22.400 0.988 N N 0.041 2.659 -0.023 2.282 0.912 0.554 0.551 0.602 0.542 . 4.420 2.160 1.443 0.939 0.592 0.993 0.413 0.060 295 . . . ID=COSV60903676;OCCURENCE=2(large_intestine) ASTL 152 0 376 27 0.0669975186104218 TRUE TRUE ENSG00000168280.17 . BCM GRCh38.p13 chr2 148947022 148947022 + A A G Missense_Mutation SNP ENST00000435030.6 exon8 c.A713G p.K238R exonic ENSG00000168280.17 . nonsynonymous SNV ENSG00000168280.17:ENST00000435030.6:exon8:c.A713G:p.K238R 2q23.1 C3N-01714 . . . . . . . . . 16.19 D D D D D D . T D 0.751 T T D 0.550 0.487 0.863 2.251 D D D D D D 4.984 33 0.999 D D 1.123 18.551 0.986 18.030 1.000 0.732 0.574 0.744 0.564 . 5.340 5.340 9.325 1.312 0.756 1.000 1.000 0.999 651 Kinesin_motor_domain . . . KIF5C 134 0 117 8 0.064 NA TRUE ENSG00000174279.4 . BCM GRCh38.p13 chr2 176080651 176080651 + G G A Missense_Mutation SNP ENST00000308618.4 exon3 c.C887T p.A296V exonic ENSG00000174279.4 . nonsynonymous SNV ENSG00000174279.4:ENST00000308618.4:exon3:c.C887T:p.A296V 2q31.1 C3N-01714 2.388e-05 0 0 0 0 0 0 0.0001 rs765774536 11.20 D T P B D D L D N 0.505 T T D 0.459 0.406 0.822 . D T D D D T 3.178 23.800 0.996 D D -0.282 1.657 -0.247 1.677 1.000 0.598 0.590 0.607 0.639 . 4.040 3.140 7.495 1.087 0.525 1.000 0.359 0.529 694 . . . ID=COSV57963877;OCCURENCE=1(oesophagus),2(thyroid) EVX2 163 0 328 26 0.0734463276836158 TRUE TRUE ENSG00000196981.4 . BCM GRCh38.p13 chr3 122414679 122414679 + G G A Missense_Mutation SNP ENST00000330689.6 exon1 c.C850T p.L284F exonic ENSG00000196981.4 . nonsynonymous SNV ENSG00000196981.4:ENST00000330689.6:exon1:c.C850T:p.L284F 3q21.1 C3N-01714 . . . . . . . . . 16.20 D D D D D D L D D 0.321 D D D 0.475 0.358 0.868 0.409 T T D T D D 3.582 25.000 0.999 D D 0.542 5.383 0.494 5.100 1.000 0.653 0.628 0.696 0.669 . 4.770 3.870 5.281 1.176 0.676 1.000 1.000 0.999 447 WD40_repeat,_conserved_site;WD40-repeat-containing_domain . . . WDR5B 414 0 569 37 0.0610561056105611 TRUE TRUE ENSG00000160145.15 . BCM GRCh38.p13 chr3 124268798 124268798 + C C T Missense_Mutation SNP ENST00000360013.7 exon5 c.C506T p.T169M exonic ENSG00000160145.15 . nonsynonymous SNV ENSG00000160145.15:ENST00000360013.7:exon5:c.C506T:p.T169M 3q21.2 C3N-01714 . . . . . . . . . 16.20 D D D D D D M T D 0.794 T T D 0.533 0.419 0.718 1.694 T D D D D D 3.651 25.200 0.999 D D 0.990 13.607 0.921 14.702 1.000 0.554 0.547 0.618 0.568 . 5.460 5.460 7.905 1.026 0.599 1.000 0.918 0.876 688 CRAL-TRIO_lipid_binding_domain . . . KALRN 211 0 468 37 0.0732673267326733 TRUE TRUE ENSG00000109586.12 . BCM GRCh38.p13 chr4 173314170 173314170 + G G A Nonsense_Mutation SNP ENST00000265000.9 exon9 c.G1602A p.W534X exonic ENSG00000109586.12 . stopgain ENSG00000109586.12:ENST00000265000.9:exon9:c.G1602A:p.W534X 4q34.1 C3N-01714 . . . . . . . . . 5.7 . . . . U A . . . 0.462 . . . . . . . . . D D D . 8.704 44 0.996 D N 1.043 15.326 0.936 15.386 1.000 0.732 0.725 0.744 0.714 . 5.600 5.600 10.003 1.172 0.672 1.000 0.994 0.989 912 Ricin_B,_lectin_domain . . . GALNT7 157 0 196 23 0.105022831050228 TRUE TRUE ENSG00000204962.6 . BCM GRCh38.p13 chr5 140842811 140842811 + G G A Missense_Mutation SNP ENST00000531613.2 exon1 c.G1490A p.R497Q exonic ENSG00000204962.6 . nonsynonymous SNV ENSG00000204962.6:ENST00000531613.2:exon1:c.G1490A:p.R497Q 5q31.3 C3N-01714 . . . . . . . . . 2.19 T T P P U N N T D 0.330 T T T 0.075 0.320 0.656 . . T T T D T 3.583 25.000 0.997 N N -0.204 1.866 -0.231 1.714 0.000 0.554 0.588 0.602 0.613 . 3.720 3.720 2.834 1.097 0.522 0.466 0.991 0.909 32 Cadherin-like . . . PCDHA8 719 0 1382 92 0.062415196743555 NA TRUE ENSG00000135298.14 . BCM GRCh38.p13 chr6 68956729 68956729 + G G C Missense_Mutation SNP ENST00000370598.6 exon8 c.G1445C p.C482S exonic ENSG00000135298.14 . nonsynonymous SNV ENSG00000135298.14:ENST00000370598.6:exon8:c.G1445C:p.C482S 6q12 C3N-01714 . . . . . . . . . 16.19 D D D D D D . T D 0.984 D D D 0.727 0.868 0.554 0.895 T T D D D D 3.659 25.200 0.990 D D 0.971 13.021 0.795 9.963 1.000 0.554 0.574 0.602 0.564 . 5.190 5.190 9.564 1.176 0.676 1.000 0.306 0.020 913 . . . ID=COSV101002291;OCCURENCE=1(stomach) ADGRB3 252 0 491 37 0.0700757575757576 TRUE TRUE ENSG00000184486.10 . BCM GRCh38.p13 chr6 98836152 98836152 + G G A Missense_Mutation SNP ENST00000328345.8 exon1 c.G1279A p.G427R exonic ENSG00000184486.10 . nonsynonymous SNV ENSG00000184486.10:ENST00000328345.8:exon1:c.G1279A:p.G427R 6q16.1 C3N-01714 . . . . . . . . . 14.20 D D D D U D L D D 0.661 D D D 0.485 0.266 0.892 . T T D T D T 4.474 32 0.998 D D 0.626 6.194 0.612 6.382 1.000 0.598 0.563 0.378 0.639 . 4.510 4.510 6.564 1.171 0.676 1.000 1.000 1.000 882 . . . ID=COSV60409574;OCCURENCE=1(skin) POU3F2 142 0 327 34 0.0941828254847645 TRUE TRUE ENSG00000003147.19 . BCM GRCh38.p13 chr7 8218358 8218358 + C C T Missense_Mutation SNP ENST00000402384.8 exon6 c.G526A p.V176M exonic ENSG00000003147.19 . nonsynonymous SNV ENSG00000003147.19:ENST00000402384.8:exon6:c.G526A:p.V176M 7p21.3 C3N-01714 0.0008 0 0 0 0 0.0014 0.0022 0.0002 rs148267518 17.20 D D D D D D M T D 0.749 D D D 0.395 . 0.875 0.606 D D T D T D 3.844 26.000 0.999 D D 0.846 9.758 0.842 11.474 1.000 0.732 0.588 0.744 0.714 . 6.000 6.000 7.905 1.026 0.599 1.000 0.927 0.991 951 Arfaptin_homology_(AH)_domain . . . ICA1 398 0 680 64 0.0860215053763441 TRUE NA ENSG00000126870.16 . BCM GRCh38.p13 chr7 158911615 158911615 + A A C Missense_Mutation SNP ENST00000407559.8 exon12 c.A1526C p.D509A exonic ENSG00000126870.16 . nonsynonymous SNV ENSG00000126870.16:ENST00000407559.8:exon12:c.A1526C:p.D509A 7q36.3 C3N-01714 . . . . . . . . . 13.20 D D P B D D M D D 0.803 T T D 0.753 0.686 0.774 0.423 T T D D D T 3.159 23.800 0.995 D D 0.262 3.589 0.334 3.921 1.000 0.732 0.744 0.659 0.655 . 5.030 5.030 6.644 1.278 0.754 1.000 1.000 0.998 952 . . . . WDR60 117 0 160 14 0.0804597701149425 TRUE TRUE ENSG00000160957.14 . BCM GRCh38.p13 chr8 144513229 144513229 + G G - Frame_Shift_Del NA ENST00000617875.6 exon14 c.2452delC p.L818Cfs*25 exonic ENSG00000160957.14 . frameshift deletion ENSG00000160957.14:ENST00000617875.6:exon14:c.2452delC:p.L818Cfs*25 8q24.3 C3N-01714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RECQL4 75 0 196 23 0.105022831050228 NA TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971163 21971163 + G G - Frame_Shift_Del NA ENST00000304494.9 exon2 c.196delC p.H66Tfs*80 exonic ENSG00000147889.17 . frameshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.196delC:p.H66Tfs*80 9p21.3 C3N-01714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 409 0 689 77 0.100522193211488 NA TRUE ENSG00000188133.6 . BCM GRCh38.p13 chr9 32784880 32784880 + A A G Missense_Mutation SNP ENST00000342743.6 exon2 c.A697G p.T233A exonic ENSG00000188133.6 . nonsynonymous SNV ENSG00000188133.6:ENST00000342743.6:exon2:c.A697G:p.T233A 9p21.1 C3N-01714 . . . . . . . . . 9.19 T T D D D D N . N 0.444 T T T 0.133 0.140 0.048 0.904 T T D D D T 3.158 23.800 0.989 D D 0.496 5.008 0.527 5.410 1.000 0.549 0.563 0.590 0.530 . 5.570 5.570 5.052 1.312 0.756 1.000 0.998 0.932 637 . . . . TMEM215 89 0 150 29 0.162011173184358 TRUE TRUE ENSG00000148426.13 . BCM GRCh38.p13 chr10 11870309 11870309 + C C T Missense_Mutation SNP ENST00000277570.10 exon4 c.C1211T p.P404L exonic ENSG00000148426.13 . nonsynonymous SNV ENSG00000148426.13:ENST00000277570.10:exon4:c.C1211T:p.P404L 10p14 C3N-01714 . . . . . . . . . 12.20 D D D D D D L T D 0.448 T T D 0.249 0.305 0.355 1.035 T T T T D D 3.774 25.700 0.999 D D 0.519 5.183 0.478 4.960 1.000 0.685 0.578 0.674 0.636 . 5.300 5.300 6.423 0.954 0.462 0.947 0.973 0.270 917 . . . . PROSER2 108 0 254 18 0.0661764705882353 TRUE TRUE ENSG00000138311.18 . BCM GRCh38.p13 chr10 62388416 62388416 + A A G Missense_Mutation SNP ENST00000395254.8 exon3 c.A764G p.H255R exonic ENSG00000138311.18 . nonsynonymous SNV ENSG00000138311.18:ENST00000395254.8:exon3:c.A764G:p.H255R 10q21.2 C3N-01714 . . . . . . . . . 9.20 D T D D D D M T N 0.312 T T T 0.117 0.430 0.779 0.909 T T T T D T 3.037 23.500 0.996 D D 0.629 6.233 0.636 6.707 1.000 0.554 0.590 0.602 0.568 . 5.560 5.560 4.800 1.312 0.750 1.000 1.000 0.999 789 . . . . ZNF365 181 0 342 46 0.118556701030928 TRUE TRUE ENSG00000165660.8 . BCM GRCh38.p13 chr10 124826619 124826619 + C C T Missense_Mutation SNP ENST00000298492.6 exon5 c.C292T p.R98W exonic ENSG00000165660.8 . nonsynonymous SNV ENSG00000165660.8:ENST00000298492.6:exon5:c.C292T:p.R98W 10q26.13 C3N-01714 . . . . . . . . rs968863430 16.19 D D D D D D . T D 0.991 T T D 0.599 0.747 0.618 1.053 D D D D D D 4.070 27.500 0.999 D D 0.573 5.662 0.520 5.345 0.983 0.707 0.725 0.725 0.714 . 5.820 3.780 2.045 1.000 0.581 1.000 0.998 0.991 741 MPN_domain . . ID=COSV53716833;OCCURENCE=2(large_intestine) ABRAXAS2 167 0 307 41 0.117816091954023 TRUE TRUE ENSG00000165970.12 . BCM GRCh38.p13 chr11 20617875 20617875 + T T - Frame_Shift_Del NA ENST00000525748.6 exon7 c.1251delT p.S418Qfs*17 exonic ENSG00000165970.12 . frameshift deletion ENSG00000165970.12:ENST00000525748.6:exon7:c.1251delT:p.S418Qfs*17 11p15.1 C3N-01714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC6A5 404 0 720 61 0.0781049935979513 NA TRUE ENSG00000052850.8 . BCM GRCh38.p13 chr11 44265153 44265153 + C C T Missense_Mutation SNP ENST00000652299.1 exon4 c.G937A p.G313R exonic ENSG00000052850.8 . nonsynonymous SNV ENSG00000052850.8:ENST00000652299.1:exon4:c.G937A:p.G313R 11p11.2 C3N-01714 . . . . . . . . . 17.20 D D D P D D M D D 0.531 D D D 0.629 0.477 0.979 1.097 T D D D D D 3.598 25.000 0.999 D N 0.607 5.998 0.639 6.753 1.000 0.487 0.574 0.547 0.613 . 5.670 5.670 4.579 1.026 0.599 1.000 0.964 0.600 643 . . . . ALX4 59 0 162 15 0.0847457627118644 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-01714 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 286 1 471 67 0.12453531598513 TRUE TRUE ENSG00000179715.13 . BCM GRCh38.p13 chr12 47236235 47236235 + G G A Missense_Mutation SNP ENST00000546455.6 exon4 c.G1172A p.R391Q exonic ENSG00000179715.13 . nonsynonymous SNV ENSG00000179715.13:ENST00000546455.6:exon4:c.G1172A:p.R391Q 12q13.11 C3N-01714 . . . . . . . . rs375607179 0.19 T T B B N N N T N 0.069 T T T 0.005 . 0.076 0.401 T T T T T T 0.009 1.390 0.832 N . -1.659 0.043 -1.641 0.064 0.999 0.615 0.588 0.659 0.464 . 4.040 -2.930 -0.078 -0.444 -0.704 0.001 0.000 0.006 775 . . . . PCED1B 176 0 356 20 0.0531914893617021 TRUE NA ENSG00000188596.11 . BCM GRCh38.p13 chr12 96691278 96691278 + C C T Missense_Mutation SNP ENST00000524981.9 exon44 c.C6232T p.R2078C exonic ENSG00000188596.11 . nonsynonymous SNV ENSG00000188596.11:ENST00000524981.9:exon44:c.C6232T:p.R2078C 12q23.1 C3N-01714 2.486e-05 9.636e-05 0 0 0 3.015e-05 0 0 rs375947114 2.15 T T . . N N . . D 0.351 T T T 0.173 . 0.402 0.045 . T T T D T 2.866 23.100 0.936 N N -0.205 1.863 -0.144 1.927 0.001 0.651 0.574 0.574 0.684 . 5.630 4.730 0.962 1.024 0.599 0.693 0.938 0.641 505 . . . . CFAP54 156 0 217 22 0.0920502092050209 TRUE NA ENSG00000151952.16 . BCM GRCh38.p13 chr12 129074987 129074987 + C C A Missense_Mutation SNP ENST00000422113.7 exon9 c.G2188T p.D730Y exonic ENSG00000151952.16 . nonsynonymous SNV ENSG00000151952.16:ENST00000422113.7:exon9:c.G2188T:p.D730Y 12q24.33 C3N-01714 . . . . . . . . . 11.20 D D D P D D M T D 0.698 T T D 0.264 0.595 0.256 0.973 T T T T D D 3.544 24.800 0.995 D N 0.502 5.053 0.406 4.402 0.466 0.615 0.588 0.659 0.564 . 4.300 4.300 2.832 1.000 0.599 1.000 0.993 0.905 994 Transmembrane_protein_family_132,_middle_domain . . ID=COSV67159692;OCCURENCE=1(large_intestine) TMEM132D 208 0 304 33 0.0979228486646884 TRUE TRUE ENSG00000133083.14 . BCM GRCh38.p13 chr13 35854557 35854557 + C C T Missense_Mutation SNP ENST00000360631.7 exon6 c.G977A p.R326H exonic ENSG00000133083.14 . nonsynonymous SNV ENSG00000133083.14:ENST00000360631.7:exon6:c.G977A:p.R326H 13q13.3 C3N-01714 8.28e-06 0 0 0 0 1.503e-05 0 0 rs373217123 7.20 T T B B D D N T N 0.424 T T T 0.088 . 0.643 2.354 D T T T D D 2.679 22.800 0.998 D D -0.012 2.469 0.204 3.203 1.000 0.507 0.574 0.658 0.621 . 5.670 5.670 4.789 1.026 0.599 1.000 0.998 0.998 655 . . . ID=COSV55179916;OCCURENCE=1(large_intestine),2(stomach),1(endometrium) DCLK1 89 0 130 12 0.0845070422535211 TRUE TRUE ENSG00000182253.15 . BCM GRCh38.p13 chr15 99130171 99130171 + G G C Missense_Mutation SNP ENST00000336292.11 exon4 c.G1811C p.G604A exonic ENSG00000182253.15 . nonsynonymous SNV ENSG00000182253.15:ENST00000336292.11:exon4:c.G1811C:p.G604A 15q26.3 C3N-01714 . . . . . . . . . 0.16 T T . . . N . T N 0.152 T T T 0.033 0.150 0.081 0.174 T T T T T T 0.008 1.386 0.535 N N -0.948 0.462 -0.995 0.495 1.000 0.615 0.542 0.659 0.563 . 5.870 -0.686 0.229 0.189 0.676 0.001 0.001 0.033 981 . . . . SYNM 382 0 766 60 0.0726392251815981 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7670685 7670685 + G G A Nonsense_Mutation SNP ENST00000269305.8 exon10 c.C1024T p.R342X exonic ENSG00000141510.17 . stopgain ENSG00000141510.17:ENST00000269305.8:exon10:c.C1024T:p.R342X 17p13.1 C3N-01714 . . . . . . . . rs730882029 4.6 . . . . N A . . . 0.870 . . . . . . . . . D D . . 6.863 36 0.997 D N 0.558 5.519 0.362 4.100 0.001 0.707 0.702 0.725 0.714 . 5.430 3.430 1.174 0.185 0.676 0.110 0.906 0.978 450 p53,_tetramerisation_domain . . ID=COSV52665487;OCCURENCE=1(salivary_gland),57(breast),1(penis),1(peritoneum),8(liver),38(oesophagus),1(adrenal_gland),76(large_intestine),18(central_nervous_system),8(biliary_tract),1(pleura),2(vulva),11(ovary),11(NS),20(stomach),9(haematopoietic_and_lymphoid_tissue),6(urinary_tract),11(kidney),6(soft_tissue),27(pancreas),23(skin),4(prostate),20(lung),3(thyroid),25(upper_aerodigestive_tract),2(thymus),6(endometrium) TP53 275 0 568 63 0.0998415213946117 TRUE TRUE ENSG00000154016.13 . BCM GRCh38.p13 chr17 19022074 19022074 + C C T Missense_Mutation SNP ENST00000284154.9 exon5 c.G539A p.R180H exonic ENSG00000154016.13 . nonsynonymous SNV ENSG00000154016.13:ENST00000284154.9:exon5:c.G539A:p.R180H 17p11.2 C3N-01714 0.0003 0.0009 0.0012 0 0 0.0002 0.0024 0.0001 rs138402616 3.20 T T B B N D L T N 0.106 T T T 0.023 . 0.575 0.800 T T T T T D 2.139 20.400 0.994 D N -0.410 1.361 -0.255 1.660 0.970 0.672 0.702 0.576 0.711 . 4.770 2.440 0.794 0.118 0.535 0.939 0.649 0.832 809 SH3_domain . . . GRAP 67 0 181 19 0.095 TRUE NA ENSG00000101049.17 . BCM GRCh38.p13 chr20 43569445 43569445 + G G A Missense_Mutation SNP ENST00000373100.7 exon6 c.G289A p.V97M exonic ENSG00000101049.17 . nonsynonymous SNV ENSG00000101049.17:ENST00000373100.7:exon6:c.G289A:p.V97M 20q13.12 C3N-01714 4.953e-05 0 8.64e-05 0 0 4.508e-05 0 0.0001 rs149168513 14.20 D D D D D D M T D 0.892 T T D 0.566 . 0.768 0.850 T T T D D D 4.208 28.700 0.999 D D 0.848 9.783 0.775 9.421 1.000 0.554 0.588 0.547 0.542 . 4.240 4.240 9.968 1.146 0.676 1.000 0.996 0.935 730 Protein_kinase_domain . . . SGK2 184 0 396 32 0.0747663551401869 TRUE NA ENSG00000101144.13 . BCM GRCh38.p13 chr20 57228331 57228331 + G G A Missense_Mutation SNP ENST00000395863.8 exon2 c.C509T p.T170M exonic ENSG00000101144.13 . nonsynonymous SNV ENSG00000101144.13:ENST00000395863.8:exon2:c.C509T:p.T170M 20q13.31 C3N-01714 8.237e-06 0 0 0 0 1.498e-05 0 0 rs371762840 18.20 D D D D D D M T D 0.937 D D D 0.725 . 0.887 1.739 T D D D D D 3.991 26.900 0.999 D D 0.861 10.093 0.820 10.742 1.000 0.648 0.590 0.693 0.564 . 5.630 5.630 9.103 1.176 0.676 1.000 0.465 0.552 783 TGF-beta,_propeptide . . . BMP7 391 0 722 70 0.0883838383838384 TRUE NA ENSG00000196576.15 . BCM GRCh38.p13 chr22 50280892 50280892 + T T C Missense_Mutation SNP ENST00000359337.9 exon24 c.A3845G p.D1282G exonic ENSG00000196576.15 . nonsynonymous SNV ENSG00000196576.15:ENST00000359337.9:exon24:c.A3845G:p.D1282G 22q13.33 C3N-01714 . . . . . . . . . 12.20 D D D D N D M T D 0.816 T T D 0.315 0.789 0.531 2.106 T T T T D D 4.238 29.000 0.998 D D 0.495 5.001 0.441 4.662 1.000 0.672 0.702 0.723 0.711 . 4.380 4.380 6.038 1.066 0.580 1.000 0.999 0.991 616 Plexin,_cytoplasmic_RasGAP_domain . . ID=COSV100833925;OCCURENCE=1(skin) PLXNB2 388 0 897 97 0.0975855130784708 TRUE TRUE ENSG00000177189.14 . BCM GRCh38.p13 chrX 20164954 20164954 + G G A Missense_Mutation SNP ENST00000379565.9 exon18 c.C1709T p.A570V exonic ENSG00000177189.14 . nonsynonymous SNV ENSG00000177189.14:ENST00000379565.9:exon18:c.C1709T:p.A570V Xp22.12 C3N-01714 . . . . . . . . rs980055137 12.19 D T D D D D N T D 0.488 T T D 0.310 0.433 0.848 2.190 D T D T D D 4.053 27.400 0.999 D . . . . . 1.000 . . . . . 5.570 5.570 5.729 1.176 0.676 1.000 1.000 0.998 76 Protein_kinase_domain . . . RPS6KA3 253 0 288 58 0.167630057803468 TRUE NA ENSG00000189186.10 . BCM GRCh38.p13 chrX 27747826 27747826 + A A G Missense_Mutation SNP ENST00000451261.6 exon5 c.A931G p.T311A exonic ENSG00000189186.10 . nonsynonymous SNV ENSG00000189186.10:ENST00000451261.6:exon5:c.A931G:p.T311A Xp21.3 C3N-01714 . . . . . . . . . 3.11 . T . . . D M T . 0.179 . . T . . 0.043 0.787 T T T T . T 1.647 16.680 0.459 D . . . . . 0.151 . . . . . 3.660 1.120 4.275 1.312 0.756 1.000 0.015 0.155 854 WD40-repeat-containing_domain . . . DCAF8L2 251 0 426 29 0.0637362637362637 TRUE TRUE ENSG00000041515.16 . BCM GRCh38.p13 chr13 109019710 109019710 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000041515.16 ENST00000356711.7:exon23:c.2530-1G>T . . 13q33.3 C3N-01714 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.787 33 0.986 D . 1.025 14.741 0.827 10.966 1.000 0.061 0.063 0.063 0.057 0.960 5.080 5.080 7.556 1.176 0.676 1.000 0.977 0.339 968 . . . ID=COSV51803605;OCCURENCE=1(large_intestine) MYO16 152 0 198 17 0.0790697674418605 TRUE TRUE ENSG00000205090.9 . BCM GRCh38.p13 chr1 1539761 1539761 + C C T Silent SNP ENST00000378733.9 exon2 c.G87A p.A29A exonic ENSG00000205090.9 . synonymous SNV ENSG00000205090.9:ENST00000378733.9:exon2:c.G87A:p.A29A 1p36.33 C3N-01714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM240 218 1 404 27 0.0626450116009281 TRUE NA ENSG00000116852.14 . BCM GRCh38.p13 chr1 201000578 201000578 + G G A Silent SNP ENST00000422435.2 exon11 c.C1497T p.N499N exonic ENSG00000116852.14 . synonymous SNV ENSG00000116852.14:ENST00000422435.2:exon11:c.C1497T:p.N499N 1q32.1 C3N-01714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF21B 172 0 413 31 0.0698198198198198 TRUE NA ENSG00000163545.11 . BCM GRCh38.p13 chr1 205304350 205304350 + G G A Silent SNP ENST00000367157.6 exon7 c.C987T p.R329R exonic ENSG00000163545.11 . synonymous SNV ENSG00000163545.11:ENST00000367157.6:exon7:c.C987T:p.R329R 1q32.1 C3N-01714 0.0001 0.0014 8.97e-05 0 0 1.604e-05 0 0 rs144977455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUAK2 80 0 212 23 0.0978723404255319 TRUE NA ENSG00000170549.4 . BCM GRCh38.p13 chr5 3599572 3599572 + C C T Silent SNP ENST00000302006.4 exon2 c.C624T p.S208S exonic ENSG00000170549.4 . synonymous SNV ENSG00000170549.4:ENST00000302006.4:exon2:c.C624T:p.S208S 5p15.33 C3N-01714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57361038;OCCURENCE=1(endometrium) IRX1 273 0 654 37 0.0535455861070912 TRUE TRUE ENSG00000164187.7 . BCM GRCh38.p13 chr5 36117738 36117738 + G G A Silent SNP ENST00000296603.5 exon10 c.C1299T p.I433I exonic ENSG00000164187.7 . synonymous SNV ENSG00000164187.7:ENST00000296603.5:exon10:c.C1299T:p.I433I 5p13.2 C3N-01714 8.708e-06 0 8.831e-05 0 0 0 0 0 rs187816551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56950263;OCCURENCE=2(skin) LMBRD2 69 0 106 15 0.12396694214876 TRUE TRUE ENSG00000107560.12 . BCM GRCh38.p13 chr10 118040475 118040475 + G G A Silent SNP ENST00000355624.8 exon2 c.C444T p.T148T exonic ENSG00000107560.12 . synonymous SNV ENSG00000107560.12:ENST00000355624.8:exon2:c.C444T:p.T148T 10q26.11 C3N-01714 1.656e-05 9.664e-05 0 0 0 0 0 6.072e-05 rs188765663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62924859;OCCURENCE=3(oesophagus),1(large_intestine),1(upper_aerodigestive_tract),1(endometrium) RAB11FIP2 188 0 222 16 0.0672268907563025 TRUE TRUE ENSG00000084110.11 . BCM GRCh38.p13 chr12 95976468 95976468 + C C T Silent SNP ENST00000261208.8 exon20 c.G1794A p.P598P exonic ENSG00000084110.11 . synonymous SNV ENSG00000084110.11:ENST00000261208.8:exon20:c.G1794A:p.P598P 12q23.1 C3N-01714 6.598e-05 0 0 0.0005 0 4.497e-05 0.0011 0 rs149461774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HAL 479 0 1009 106 0.095067264573991 TRUE NA ENSG00000007174.18 . BCM GRCh38.p13 chr17 11854224 11854224 + G G A Silent SNP ENST00000262442.9 exon50 c.G9729A p.P3243P exonic ENSG00000007174.18 . synonymous SNV ENSG00000007174.18:ENST00000262442.9:exon50:c.G9729A:p.P3243P 17p12 C3N-01714 9.06e-05 9.61e-05 0.0008 0.0001 0 0 0 0 rs149731222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH9 393 1 699 40 0.054127198917456 TRUE NA ENSG00000054523.17 . BCM GRCh38.p13 chr1 10303204 10303204 + G G A Intron SNP NA NA NA NA intronic ENSG00000054523.17 . . . 1p36.22 C3N-01714 0.0005 0.0002 0.0006 0 0 0.0005 0.0011 0.0013 rs150181429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55813876;OCCURENCE=1(bone) KIF1B 217 0 321 25 0.0722543352601156 TRUE TRUE ENSG00000015153.14 . BCM GRCh38.p13 chr12 42238627 42238627 + G G T 5'Flank SNP NA NA NA NA upstream ENSG00000015153.14 dist=379 . . 12q12 C3N-01714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YAF2 104 0 265 26 0.0893470790378007 TRUE NA ENSG00000140481.15 . BCM GRCh38.p13 chr15 74335146 74335146 + C C T Intron SNP NA NA NA NA intronic ENSG00000140481.15 . . . 15q24.1 C3N-01714 . . . . . . . . . 1.16 D T B B . N . T N 0.136 T T T 0.035 . 0.124 . . . T T T T 0.273 3.977 0.872 N N -0.963 0.445 -1.048 0.432 0.595 0.497 0.590 0.547 0.542 . 3.920 -0.321 -0.074 -0.335 -1.054 0.000 0.001 0.002 799 . . . . CCDC33 187 0 307 44 0.125356125356125 TRUE NA ENSG00000088340.17 . BCM GRCh38.p13 chr20 35559187 35559187 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000088340.17 . . . 20q11.22 C3N-01714 . . . . . . . . rs937707491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FER1L4 135 0 268 28 0.0945945945945946 TRUE NA ENSG00000196581.11 . BCM GRCh38.p13 chr1 4712037 4712037 + C C T Missense_Mutation SNP ENST00000378191.5 exon2 c.C167T p.S56L exonic ENSG00000196581.11 . nonsynonymous SNV ENSG00000196581.11:ENST00000378191.5:exon2:c.C167T:p.S56L 1p36.32 C3L-02890 . . . . . . . . . 3.20 D T B B N N N T N 0.126 T T D 0.055 0.278 0.162 0.347 T T T T T T 1.591 16.320 0.995 D N -0.689 0.831 -0.621 1.014 0.995 0.583 0.574 0.615 0.613 . 5.080 4.160 4.549 1.022 0.594 0.820 0.002 0.003 993 . . . . AJAP1 181 0 327 18 0.0521739130434783 TRUE TRUE ENSG00000116819.8 . BCM GRCh38.p13 chr1 35573960 35573960 + G G A Missense_Mutation SNP ENST00000373235.4 exon2 c.G61A p.G21R exonic ENSG00000116819.8 . nonsynonymous SNV ENSG00000116819.8:ENST00000373235.4:exon2:c.G61A:p.G21R 1p34.3 C3L-02890 . . . . . . . . . 11.20 T T D P U D L D N 0.518 D D D 0.495 0.263 0.641 1.190 D T D D D T 2.891 23.200 0.998 D N -0.101 2.171 -0.061 2.162 1.000 0.437 0.542 0.607 0.555 . 3.600 3.600 2.722 0.976 0.471 1.000 0.993 0.697 349 . . . . TFAP2E 162 0 241 31 0.113970588235294 TRUE TRUE ENSG00000116871.15 . BCM GRCh38.p13 chr1 36176553 36176553 + C C T Missense_Mutation SNP ENST00000373151.6 exon7 c.C1205T p.P402L exonic ENSG00000116871.15 . nonsynonymous SNV ENSG00000116871.15:ENST00000373151.6:exon7:c.C1205T:p.P402L 1p34.3 C3L-02890 0.0004 0 0 0.0011 0 0.0004 0 0 rs780310575 1.20 T T B B N N N T N 0.060 T T D 0.019 0.182 0.043 0.229 T T T T T T 0.249 3.693 0.953 N N -1.473 0.090 -1.502 0.107 1.000 0.789 0.702 0.768 0.714 . 5.510 -6.050 -0.039 -0.827 -0.319 0.000 0.000 0.417 156 . . . ID=COSV60214922;OCCURENCE=1(large_intestine),2(stomach) MAP7D1 52 0 67 5 0.0694444444444444 TRUE TRUE ENSG00000143390.17 . BCM GRCh38.p13 chr1 151342628 151342628 + C C T Missense_Mutation SNP ENST00000290524.8 exon11 c.G1409A p.R470Q exonic ENSG00000143390.17 . nonsynonymous SNV ENSG00000143390.17:ENST00000290524.8:exon11:c.G1409A:p.R470Q 1q21.3 C3L-02890 0.0001 0 0 0 0 0.0003 0 0 rs138131380 9.20 D D D D D D L T N 0.418 T T T 0.152 . 0.652 0.664 T T T T T D 3.882 26.200 1.000 D D 0.689 6.963 0.680 7.396 1.000 0.707 0.696 0.702 0.714 . 5.420 5.420 2.662 1.026 0.549 1.000 1.000 0.999 310 RFX5,_C-terminal . . . RFX5 316 1 538 59 0.0988274706867672 TRUE NA ENSG00000027644.5 . BCM GRCh38.p13 chr1 156841054 156841054 + G G C Missense_Mutation SNP ENST00000368195.4 exon22 c.C3713G p.S1238C exonic ENSG00000027644.5 . nonsynonymous SNV ENSG00000027644.5:ENST00000368195.4:exon22:c.C3713G:p.S1238C 1q23.1 C3L-02890 . . . . . . . . . 14.20 D D P B N D M D D 0.176 D D D 0.522 0.611 0.940 0.161 T D D T D T 2.858 23.100 0.990 D D 0.345 4.020 0.370 4.152 1.000 0.497 0.590 0.547 0.632 . 5.410 5.410 4.201 1.176 0.676 1.000 0.915 0.648 725 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . INSRR 415 0 703 46 0.061415220293725 TRUE TRUE ENSG00000198216.12 . BCM GRCh38.p13 chr1 181715352 181715352 + G G A Missense_Mutation SNP ENST00000367573.7 exon9 c.G1186A p.A396T exonic ENSG00000198216.12 . nonsynonymous SNV ENSG00000198216.12:ENST00000367573.7:exon9:c.G1186A:p.A396T 1q25.3 C3L-02890 0 0 0 0 0 0 0 0 rs777265667 18.20 D T D D N D M D D 0.545 D D D 0.580 . 0.859 1.616 D D D D D D 4.023 27.100 0.999 D D 0.784 8.479 0.762 9.100 1.000 0.651 0.709 0.547 0.564 . 5.160 5.160 7.162 1.176 0.674 1.000 1.000 0.998 589 . . . ID=COSV100704395;OCCURENCE=1(stomach) CACNA1E 149 1 325 19 0.0552325581395349 TRUE NA ENSG00000066279.18 . BCM GRCh38.p13 chr1 197103616 197103616 + T T C Missense_Mutation SNP ENST00000367409.9 exon18 c.A5635G p.I1879V exonic ENSG00000066279.18 . nonsynonymous SNV ENSG00000066279.18:ENST00000367409.9:exon18:c.A5635G:p.I1879V 1q31.3 C3L-02890 . . . . . . . . . 0.20 T T B B N N N T N 0.060 T T T 0.017 0.486 0.030 . T T T T T T 0.313 4.440 0.446 N N -1.397 0.118 -1.431 0.137 1.000 0.719 0.654 0.644 0.734 . 5.620 -3.200 -0.435 -0.151 -0.118 0.000 0.142 0.656 177 IQ_motif,_EF-hand_binding_site . . . ASPM 295 0 466 48 0.0933852140077821 TRUE TRUE ENSG00000175143.4 . BCM GRCh38.p13 chr1 248406047 248406047 + G G A Missense_Mutation SNP ENST00000366474.1 exon1 c.G53A p.C18Y exonic ENSG00000175143.4 . nonsynonymous SNV ENSG00000175143.4:ENST00000366474.1:exon1:c.G53A:p.C18Y 1q44 C3L-02890 8.299e-06 9.903e-05 0 0 0 0 0 0 rs773073764 1.18 T D B B . N N T N 0.087 T T T 0.008 0.370 0.188 0.012 T T T T T . -0.386 0.206 0.251 N N -1.518 0.076 -1.541 0.093 0.000 0.487 0.547 0.574 0.564 . 3.080 -1.610 -0.676 -0.324 -0.123 0.000 0.003 0.043 982 . . . . OR2T1 95 0 188 13 0.0646766169154229 TRUE TRUE ENSG00000119771.15 . BCM GRCh38.p13 chr2 23706512 23706512 + A A G Missense_Mutation SNP ENST00000486442.6 exon14 c.A2476G p.T826A exonic ENSG00000119771.15 . nonsynonymous SNV ENSG00000119771.15:ENST00000486442.6:exon14:c.A2476G:p.T826A 2p24.1 C3L-02890 . . . . . . . . . 10.18 T D . . D D L T N 0.665 T T D 0.466 . 0.454 . D T D T D D 2.620 22.700 0.982 D D -0.101 2.173 -0.014 2.312 1.000 0.672 0.702 0.597 0.636 . 5.190 5.190 9.241 1.311 0.756 1.000 0.840 0.714 916 . . . . KLHL29 132 0 228 19 0.0769230769230769 TRUE TRUE ENSG00000206559.8 . BCM GRCh38.p13 chr3 28413270 28413270 + T T C Missense_Mutation SNP ENST00000635992.1 exon2 c.T202C p.Y68H exonic ENSG00000206559.8;ENSG00000283563.1 . nonsynonymous SNV ENSG00000283563.1:ENST00000635992.1:exon2:c.T202C:p.Y68H,ENSG00000206559.8:ENST00000383768.7:exon3:c.T202C:p.Y68H 3p24.1 C3L-02890 . . . . . . . . . 3.20 T T B B N N L T D 0.308 T T T 0.104 0.786 0.048 0.024 T T T T D T 2.099 20.100 0.981 D N -0.015 2.457 0.089 2.690 0.000 0.638 0.588 0.574 0.668 . 5.410 4.040 1.485 1.138 0.665 0.979 0.313 0.979 639 Zinc_finger,_CW-type . . . ZCWPW2 222 0 367 21 0.0541237113402062 TRUE TRUE ENSG00000048342.16 . BCM GRCh38.p13 chr4 15502488 15502488 + C C T Missense_Mutation SNP ENST00000424120.5 exon5 c.C307T p.R103C exonic ENSG00000048342.16 . nonsynonymous SNV ENSG00000048342.16:ENST00000424120.5:exon5:c.C307T:p.R103C 4p15.32 C3L-02890 . . . . . . . . rs367699902 14.20 D D D D D D M T D 0.719 T T D 0.165 0.303 0.545 0.339 T D T T D D 3.987 26.900 0.999 D D 0.719 7.386 0.684 7.466 0.999 0.706 0.574 0.710 0.655 . 5.560 4.640 3.991 1.026 0.599 1.000 0.999 0.957 656 . . . ID=COSV67503463;OCCURENCE=1(stomach),1(upper_aerodigestive_tract),1(large_intestine) CC2D2A 85 0 175 19 0.0979381443298969 TRUE TRUE ENSG00000170561.13 . BCM GRCh38.p13 chr5 2749672 2749672 + G G A Missense_Mutation SNP ENST00000302057.6 exon2 c.C365T p.T122M exonic ENSG00000170561.13 . nonsynonymous SNV ENSG00000170561.13:ENST00000302057.6:exon2:c.C365T:p.T122M 5p15.33 C3L-02890 . . . . . . . . . 20.20 D D D D D D M D D 0.902 D D D 0.898 0.631 0.948 2.661 D D D D D D 4.328 29.800 0.999 D D 0.887 10.710 0.831 11.123 1.000 0.767 0.574 0.851 0.639 . 4.850 4.850 9.551 1.172 0.672 1.000 1.000 0.993 946 Homeobox_domain . . . IRX2 367 0 609 60 0.0896860986547085 TRUE TRUE ENSG00000175426.11 . BCM GRCh38.p13 chr5 96393045 96393045 + G G A Missense_Mutation SNP ENST00000311106.8 exon14 c.C2218T p.R740W exonic ENSG00000175426.11 . nonsynonymous SNV ENSG00000175426.11:ENST00000311106.8:exon14:c.C2218T:p.R740W 5q15 C3L-02890 2.472e-05 0 0 0 0 0 0 0.0002 rs368253923 11.20 D D D D D D L T N 0.699 T T D 0.454 . 0.902 0.944 T T T D T D 3.895 26.300 0.999 D D 0.419 4.463 0.427 4.558 0.735 0.615 0.610 0.602 0.655 . 6.030 4.170 2.982 0.161 0.676 1.000 1.000 0.999 801 Prohormone_convertase_enzyme . . . PCSK1 220 1 367 43 0.104878048780488 TRUE NA ENSG00000272674.3 . BCM GRCh38.p13 chr5 141183415 141183415 + G G A Missense_Mutation SNP ENST00000609684.2 exon1 c.G856A p.E286K exonic ENSG00000272674.3 . nonsynonymous SNV ENSG00000272674.3:ENST00000609684.2:exon1:c.G856A:p.E286K 5q31.3 C3L-02890 . . . . . . . . . 0.12 . T . . N N . . . 0.097 T T T 0.071 0.395 0.462 . T . T T T . 2.196 20.800 0.995 N N -0.442 1.293 -0.529 1.156 0.990 0.646 0.547 0.645 0.568 . 4.750 3.880 0.414 0.208 0.614 0.000 0.001 0.024 654 . . . . PCDHB16 207 0 370 32 0.0796019900497512 TRUE TRUE ENSG00000186439.14 . BCM GRCh38.p13 chr6 123548568 123548568 + G G A Missense_Mutation SNP ENST00000334268.9 exon3 c.C277T p.R93C exonic ENSG00000186439.14 . nonsynonymous SNV ENSG00000186439.14:ENST00000334268.9:exon3:c.C277T:p.R93C 6q22.31 C3L-02890 0.0005 0.0042 0.0004 0 0 0 0 0.0001 rs370788759 3.20 D D P B N N N T N 0.237 T T T 0.073 . 0.340 . T T T T T T 3.061 23.500 0.996 D N -0.039 2.375 0.043 2.514 0.080 0.693 0.574 0.659 0.632 . 5.290 3.320 1.887 0.161 0.676 0.987 0.941 0.863 816 Aspartyl_beta-hydroxylase/Triadin_domain . . ID=COSV100521887;OCCURENCE=1(large_intestine) TRDN 107 0 197 13 0.0619047619047619 TRUE NA ENSG00000164694.17 . BCM GRCh38.p13 chr6 159233786 159233786 + C C T Missense_Mutation SNP ENST00000297267.14 exon11 c.C3274T p.R1092W exonic ENSG00000164694.17 . nonsynonymous SNV ENSG00000164694.17:ENST00000297267.14:exon11:c.C3274T:p.R1092W 6q25.3 C3L-02890 . . . . . . . . . 5.20 D D D P N N N T D 0.424 T T T 0.041 0.288 0.441 0.167 T T T T D T 2.733 22.900 0.993 N N -0.357 1.479 -0.534 1.148 1.000 0.623 0.563 0.378 0.563 . 4.360 2.260 0.170 -0.031 0.318 0.000 0.001 0.041 808 . . . . FNDC1 197 0 284 15 0.0501672240802676 TRUE TRUE ENSG00000164853.9 . BCM GRCh38.p13 chr7 1236130 1236130 + C C T Missense_Mutation SNP ENST00000316333.9 exon3 c.C749T p.P250L exonic ENSG00000164853.9 . nonsynonymous SNV ENSG00000164853.9:ENST00000316333.9:exon3:c.C749T:p.P250L 7p22.3 C3L-02890 . . . . . . . . . 6.20 D T B B U D L D N 0.193 T T D 0.238 0.316 0.549 . D T T T T T 2.068 19.780 0.992 D N -0.223 1.812 -0.094 2.064 0.995 0.598 0.590 0.608 0.639 . 3.630 3.630 0.097 0.891 0.449 0.000 0.979 0.275 970 . . . ID=COSV100310246;OCCURENCE=1(stomach) UNCX 120 0 118 7 0.056 TRUE TRUE ENSG00000085563.15 . BCM GRCh38.p13 chr7 87515370 87515370 + G G A Missense_Mutation SNP ENST00000622132.5 exon25 c.C3143T p.P1048L exonic ENSG00000085563.15 . nonsynonymous SNV ENSG00000085563.15:ENST00000622132.5:exon25:c.C3143T:p.P1048L 7q21.12 C3L-02890 2.474e-05 0 8.654e-05 0 0 3e-05 0 0 rs756736504 12.19 D D D B N D L D D 0.329 D D D 0.513 0.649 0.356 0.272 T . T T T D 3.282 24.100 0.961 D D -0.153 2.012 -0.119 1.992 0.996 0.554 0.588 0.618 0.621 . 5.960 5.080 6.812 0.229 -0.104 1.000 0.098 0.458 485 ABC_transporter-like . . ID=COSV55944903;OCCURENCE=1(skin),1(lung) ABCB1 402 0 795 52 0.0613931523022432 TRUE TRUE ENSG00000106236.4 . BCM GRCh38.p13 chr7 98624972 98624972 + C C T Missense_Mutation SNP ENST00000265634.4 exon3 c.C694T p.R232C exonic ENSG00000106236.4 . nonsynonymous SNV ENSG00000106236.4:ENST00000265634.4:exon3:c.C694T:p.R232C 7q22.1 C3L-02890 . . . . . . . . . 17.20 D D D D D D H T D 0.921 T T D 0.581 0.771 0.489 1.325 D D D D D D 3.847 26.100 0.999 D D 0.822 9.229 0.714 8.020 1.000 0.706 0.590 0.710 0.621 . 5.570 5.570 6.085 1.026 0.599 1.000 0.905 0.436 231 . . . . NPTX2 135 0 268 34 0.112582781456954 TRUE NA ENSG00000214300.7 . BCM GRCh38.p13 chr7 100317092 100317092 + C C A Missense_Mutation SNP ENST00000332397.6 exon8 c.C1283A p.A428E exonic ENSG00000214300.7 . nonsynonymous SNV ENSG00000214300.7:ENST00000332397.6:exon8:c.C1283A:p.A428E 7q22.1 C3L-02890 . . . . . . . . . 4.16 T T . . D N M . D 0.585 T T T 0.073 0.480 0.043 2.504 . T T T D T 1.222 13.810 0.634 N N -0.791 0.669 -1.013 0.473 0.000 0.615 0.634 0.659 0.568 . 0.418 -0.836 1.024 0.318 0.217 0.561 0.028 0.146 275 . . . . SPDYE3 454 0 696 77 0.0996119016817594 NA TRUE ENSG00000106331.17 . BCM GRCh38.p13 chr7 127613803 127613803 + C C T Missense_Mutation SNP ENST00000639438.3 exon7 c.G515A p.R172Q exonic ENSG00000106331.17 . nonsynonymous SNV ENSG00000106331.17:ENST00000639438.3:exon7:c.G515A:p.R172Q 7q32.1 C3L-02890 4.119e-05 0 0 0.0001 0 2.997e-05 0 0.0001 rs587780414 17.19 D D D D D D . D D 0.764 D D D 0.871 . 0.968 0.353 T T D D D D 4.131 28.000 1.000 D D 0.767 8.167 0.727 8.300 1.000 0.487 0.574 0.547 0.542 . 5.320 5.320 5.233 1.026 0.599 1.000 0.993 0.924 0 Homeobox_domain . . ID=COSV58392056;OCCURENCE=1(lung) PAX4 298 0 514 50 0.0886524822695035 TRUE NA ENSG00000181790.11 . BCM GRCh38.p13 chr8 142464884 142464884 + C C - Frame_Shift_Del NA ENST00000517894.5 exon2 c.686delC p.R231Afs*6 exonic ENSG00000181790.11 . frameshift deletion ENSG00000181790.11:ENST00000517894.5:exon2:c.686delC:p.R231Afs*6 8q24.3 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRB1 190 0 311 45 0.126404494382022 TRUE TRUE ENSG00000178445.10 . BCM GRCh38.p13 chr9 6553427 6553427 + C C T Missense_Mutation SNP ENST00000321612.8 exon20 c.G2398A p.V800I exonic ENSG00000178445.10 . nonsynonymous SNV ENSG00000178445.10:ENST00000321612.8:exon20:c.G2398A:p.V800I 9p24.1 C3L-02890 1.648e-05 0 0 0 0 1.499e-05 0 6.056e-05 rs754581403 6.20 T T B B N D L D N 0.166 D D D 0.270 0.546 0.755 0.041 T T T T T D 0.327 4.603 0.855 N N -0.925 0.489 -0.920 0.593 1.000 0.706 0.702 0.710 0.375 . 4.840 -0.461 1.002 -0.239 -0.193 0.584 0.530 0.129 768 . . . . GLDC 376 0 651 72 0.0995850622406639 TRUE NA ENSG00000198642.7 . BCM GRCh38.p13 chr9 21333368 21333368 + T T C Missense_Mutation SNP ENST00000359039.5 exon1 c.A1492G p.I498V exonic ENSG00000198642.7 . nonsynonymous SNV ENSG00000198642.7:ENST00000359039.5:exon1:c.A1492G:p.I498V 9p21.3 C3L-02890 . . . . . . . . . 6.20 D T P P U D L D N 0.418 T T T 0.450 0.651 0.579 0.613 T T T T D T 3.058 23.500 0.993 D D 0.281 3.684 0.361 4.092 1.000 0.722 0.663 0.663 0.735 . 4.950 4.950 7.979 1.120 0.644 1.000 1.000 0.996 740 . . . . KLHL9 562 0 926 75 0.0749250749250749 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971121 21971121 + G G A Nonsense_Mutation SNP ENST00000304494.9 exon2 c.C238T p.R80X exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon2:c.C238T:p.R80X 9p21.3 C3L-02890 . . . . . . . . rs121913388 9.16 T D . . N D . D D 0.305 T T . 0.480 . 0.977 . T T D D D T 7.418 38 0.998 D D 0.265 3.604 0.302 3.727 1.000 0.677 0.383 0.608 0.601 . 5.930 5.010 1.260 1.176 0.676 0.882 0.552 0.951 900 . . . ID=COSV58682746;OCCURENCE=1(salivary_gland),2(breast),17(penis),1(liver),29(oesophagus),6(large_intestine),4(central_nervous_system),9(biliary_tract),11(vulva),5(ovary),2(bone),7(NS),3(stomach),19(haematopoietic_and_lymphoid_tissue),2(soft_tissue),2(kidney),6(urinary_tract),26(pancreas),49(skin),1(prostate),15(lung),7(thyroid),70(upper_aerodigestive_tract),2(thymus),1(small_intestine),3(endometrium) CDKN2A 658 0 1016 223 0.17998385794996 TRUE TRUE ENSG00000183049.12 . BCM GRCh38.p13 chr10 12824469 12824469 + G G A Missense_Mutation SNP ENST00000619168.4 exon9 c.G838A p.A280T exonic ENSG00000183049.12 . nonsynonymous SNV ENSG00000183049.12:ENST00000619168.4:exon9:c.G838A:p.A280T 10p13 C3L-02890 . . . . . . . . rs912179319 5.20 T T B B D D L T N 0.409 T T T 0.078 0.262 0.382 . T T T T D D 2.902 23.200 0.988 D N 0.067 2.757 0.204 3.202 0.992 0.706 0.710 0.710 0.616 . 5.120 5.120 4.265 1.176 0.676 1.000 0.990 0.989 969 . . . ID=COSV66609732;OCCURENCE=1(large_intestine) CAMK1D 236 0 445 43 0.0881147540983607 TRUE TRUE ENSG00000149571.12 . BCM GRCh38.p13 chr11 126424903 126424903 + C C T Missense_Mutation SNP ENST00000525144.7 exon17 c.G2014A p.G672S exonic ENSG00000149571.12 . nonsynonymous SNV ENSG00000149571.12:ENST00000525144.7:exon17:c.G2014A:p.G672S 11q24.2 C3L-02890 . . . . . . . . . 13.20 D T D D D D N T N 0.833 T T D 0.213 0.602 0.647 1.275 D T D D D D 2.717 22.900 0.999 D D 0.443 4.624 0.511 5.264 1.000 0.581 0.547 0.576 0.613 . 4.880 4.880 7.331 1.026 0.599 1.000 0.845 0.918 951 . . . . KIRREL3 117 0 189 13 0.0643564356435644 TRUE TRUE ENSG00000111713.3 . BCM GRCh38.p13 chr12 21575939 21575939 + C C - Frame_Shift_Del NA ENST00000261195.3 exon3 c.422delG p.G141Afs*13 exonic ENSG00000111713.3 . frameshift deletion ENSG00000111713.3:ENST00000261195.3:exon3:c.422delG:p.G141Afs*13 12p12.1 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GYS2 266 0 455 61 0.118217054263566 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-02890 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 269 0 590 85 0.125925925925926 TRUE TRUE ENSG00000174718.12 . BCM GRCh38.p13 chr12 31984167 31984167 + C C T Missense_Mutation SNP ENST00000312561.9 exon4 c.C3212T p.T1071I exonic ENSG00000174718.12 . nonsynonymous SNV ENSG00000174718.12:ENST00000312561.9:exon4:c.C3212T:p.T1071I 12p11.21 C3L-02890 . . . . . . . . . 0.20 T T B B N N L T N 0.041 T T T 0.007 0.316 0.040 0.011 T T T T T T 0.082 1.931 0.977 N N -1.038 0.365 -1.142 0.335 0.998 0.707 0.702 0.644 0.714 . 5.300 -1.320 -0.378 -0.388 -0.273 0.000 0.002 0.001 958 . . . . RESF1 60 0 104 17 0.140495867768595 TRUE TRUE ENSG00000137766.17 . BCM GRCh38.p13 chr15 54013186 54013186 + C C T Nonsense_Mutation SNP ENST00000260323.15 exon1 c.C283T p.R95X exonic ENSG00000137766.17 . stopgain ENSG00000137766.17:ENST00000260323.15:exon1:c.C283T:p.R95X 15q21.3 C3L-02890 0.0001 0 0 0.0001 0.0009 9.034e-05 0 6.066e-05 rs777064285 4.5 . . . . . A . . . 0.275 . . . . . . . . . D D . . 5.958 35 0.997 D N 0.511 5.121 0.328 3.883 0.000 0.487 0.574 0.574 0.564 . 5.090 1.930 1.615 0.947 0.599 1.000 1.000 0.992 844 . . . ID=COSV52872525;OCCURENCE=1(upper_aerodigestive_tract) UNC13C 197 0 362 22 0.0572916666666667 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675209 7675209 + A A - Frame_Shift_Del NA ENST00000269305.8 exon5 c.403delT p.C135Afs*35 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon5:c.403delT:p.C135Afs*35 17p13.1 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 239 0 389 32 0.0760095011876485 TRUE TRUE ENSG00000008838.20 . BCM GRCh38.p13 chr17 40035249 40035249 + G G A Missense_Mutation SNP ENST00000394128.7 exon6 c.C427T p.R143W exonic ENSG00000008838.20 . nonsynonymous SNV ENSG00000008838.20:ENST00000394128.7:exon6:c.C427T:p.R143W 17q21.1 C3L-02890 1.702e-05 0 0 0 0 3.104e-05 0 0 rs776181925 9.20 D D D P N D L T D 0.465 T T T 0.111 0.282 0.585 0.454 T T T T D D 3.614 25.100 0.992 D D 0.487 4.937 0.573 5.902 1.000 0.716 0.702 0.732 0.297 . 6.060 6.060 3.162 1.176 0.676 1.000 0.998 0.984 173 Mediator_complex,_subunit_Med24,_N-terminal . . . MED24 232 0 407 38 0.0853932584269663 TRUE NA ENSG00000006283.18 . BCM GRCh38.p13 chr17 50621703 50621703 + T T G Missense_Mutation SNP ENST00000359106.10 exon35 c.T5969G p.I1990S exonic ENSG00000006283.18 . nonsynonymous SNV ENSG00000006283.18:ENST00000359106.10:exon35:c.T5969G:p.I1990S 17q21.33 C3L-02890 . . . . . . . . . 12.20 D T B B N D L D N 0.742 D D D 0.513 0.375 0.929 0.720 T T D D D D 2.934 23.300 0.983 D D -0.001 2.508 0.146 2.932 1.000 0.455 0.547 0.607 0.563 . 4.840 4.840 5.505 1.138 0.665 1.000 1.000 0.998 855 . . . . CACNA1G 99 0 205 28 0.120171673819742 TRUE TRUE ENSG00000158201.10 . BCM GRCh38.p13 chr18 21683945 21683945 + C C G Missense_Mutation SNP ENST00000289119.7 exon4 c.G530C p.R177T exonic ENSG00000158201.10 . nonsynonymous SNV ENSG00000158201.10:ENST00000289119.7:exon4:c.G530C:p.R177T 18q11.2 C3L-02890 . . . . . . . . . 16.20 D D D D D D H T D 0.904 D D D 0.884 0.905 0.944 0.906 T T D D D D 3.803 25.800 0.984 D N 0.811 8.994 0.711 7.969 1.000 0.615 0.634 0.659 0.655 . 4.660 4.660 3.712 1.011 0.531 1.000 1.000 0.998 759 Alpha/beta_hydrolase_fold-1 . . . ABHD3 190 0 406 48 0.105726872246696 TRUE TRUE ENSG00000198795.11 . BCM GRCh38.p13 chr18 25224485 25224485 + C C T Missense_Mutation SNP ENST00000361524.8 exon4 c.G3433A p.V1145I exonic ENSG00000198795.11 . nonsynonymous SNV ENSG00000198795.11:ENST00000361524.8:exon4:c.G3433A:p.V1145I 18q11.2 C3L-02890 8.241e-06 0 0 0 0 1.499e-05 0 0 rs770755347 9.20 T T D D D D M T N 0.666 T T T 0.252 0.695 0.043 0.282 T T T T D D 3.590 25.000 0.973 D D 0.807 8.916 0.827 10.984 1.000 0.672 0.547 0.688 0.711 . 5.980 5.980 7.563 1.026 0.599 1.000 0.986 0.987 908 Zinc_finger_C2H2-type . . ID=COSV64124244;OCCURENCE=3(pancreas) ZNF521 182 0 318 145 0.31317494600432 TRUE TRUE ENSG00000141639.12 . BCM GRCh38.p13 chr18 50664481 50664481 + G G A Missense_Mutation SNP ENST00000400384.7 exon2 c.G523A p.V175I exonic ENSG00000141639.12 . nonsynonymous SNV ENSG00000141639.12:ENST00000400384.7:exon2:c.G523A:p.V175I 18q21.1 C3L-02890 6.22e-05 0 0 0 0 4.731e-05 0 0.0003 rs761132815 5.20 T T P B D D N T N 0.301 T T D 0.053 . 0.762 1.411 T T T T T D 2.310 21.600 0.999 D N 0.115 2.946 0.211 3.236 1.000 0.638 0.590 0.653 0.564 . 5.870 5.000 2.951 1.176 0.676 1.000 0.825 0.296 626 Protein_kinase_domain . . ID=COSV101245301;OCCURENCE=1(stomach) MAPK4 71 0 101 7 0.0648148148148148 TRUE NA ENSG00000129932.10 . BCM GRCh38.p13 chr19 3496745 3496745 + G G A Missense_Mutation SNP ENST00000427575.6 exon2 c.C70T p.R24C exonic ENSG00000129932.10 . nonsynonymous SNV ENSG00000129932.10:ENST00000427575.6:exon2:c.C70T:p.R24C 19p13.3 C3L-02890 1.696e-05 0 0 0 0 3.1e-05 0 0 rs766745007 18.19 D D D D D D H . D 0.947 D D D 0.879 0.869 0.601 1.277 T D D D D D 3.700 25.400 0.999 D D 0.780 8.406 0.644 6.827 1.000 0.707 0.702 0.725 0.714 . 4.280 4.280 4.046 1.164 0.662 1.000 0.997 0.784 952 . . . . DOHH 257 0 450 27 0.0566037735849057 TRUE NA ENSG00000101187.16 . BCM GRCh38.p13 chr20 62656858 62656858 + A A G Missense_Mutation SNP ENST00000217159.6 exon2 c.A404G p.Y135C exonic ENSG00000101187.16 . nonsynonymous SNV ENSG00000101187.16:ENST00000217159.6:exon2:c.A404G:p.Y135C 20q13.33 C3L-02890 . . . . . . . . . 11.20 D D D D N D M T D 0.343 T T D 0.230 0.919 0.705 0.867 T T T T D D 2.164 20.600 0.986 D N -0.124 2.100 -0.335 1.494 1.000 0.672 0.702 0.723 0.655 . 4.580 -2.420 1.382 -0.168 -0.114 0.879 0.477 0.029 608 Major_facilitator_superfamily_domain . . . SLCO4A1 95 0 175 13 0.0691489361702128 TRUE TRUE ENSG00000160284.15 . BCM GRCh38.p13 chr21 46161497 46161497 + G G A Missense_Mutation SNP ENST00000291672.6 exon5 c.C905T p.A302V exonic ENSG00000160284.15 . nonsynonymous SNV ENSG00000160284.15:ENST00000291672.6:exon5:c.C905T:p.A302V 21q22.3 C3L-02890 0.0003 0 0.0002 0 0.0003 0.0003 0.0015 0.0006 rs138638304 1.19 T T D P N N L T N 0.149 T T T 0.081 . 0.438 0.188 T T T T T . 2.585 22.600 0.997 N N 0.185 3.237 0.132 2.869 1.000 0.706 0.710 0.723 0.700 . 4.370 4.370 1.606 1.112 0.592 0.064 0.999 0.995 982 Speriolin,_C-terminal . . . SPATC1L 121 0 156 10 0.0602409638554217 TRUE NA ENSG00000161180.11 . BCM GRCh38.p13 chr22 21635163 21635163 + G G A Missense_Mutation SNP ENST00000292779.4 exon4 c.G1100A p.R367H exonic ENSG00000161180.11 . nonsynonymous SNV ENSG00000161180.11:ENST00000292779.4:exon4:c.G1100A:p.R367H 22q11.21 C3L-02890 5.029e-05 0 0 0 0 9.164e-05 0 0 rs9609909 0.18 T T . . N N N T N 0.060 T T T 0.016 . 0.040 0.232 T T T T T T -0.182 0.557 0.859 N N -1.988 0.010 -2.037 0.011 1.000 0.581 0.547 0.576 0.613 . 4.170 -8.350 -1.011 -2.110 -2.481 0.000 0.000 0.000 946 . . . . CCDC116 126 0 254 18 0.0661764705882353 TRUE NA ENSG00000183530.14 . BCM GRCh38.p13 chr22 31713619 31713619 + C C T Missense_Mutation SNP ENST00000327423.11 exon4 c.G4220A p.R1407H exonic ENSG00000183530.14 . nonsynonymous SNV ENSG00000183530.14:ENST00000327423.11:exon4:c.G4220A:p.R1407H 22q12.2 C3L-02890 . . . . . . . . rs773119037 1.20 T T B B N N N T N 0.041 T T D 0.026 0.167 0.043 0.081 T T T T T T -0.271 0.359 0.136 N N -1.412 0.112 -1.357 0.174 0.037 0.707 0.725 0.725 0.714 . 5.470 -0.390 0.013 0.204 -0.113 0.000 0.021 0.003 155 . . . ID=COSV57883076;OCCURENCE=4(large_intestine) PRR14L 350 0 599 52 0.0798771121351766 TRUE TRUE ENSG00000102290.22 . BCM GRCh38.p13 chrX 91876975 91876975 + C C A Missense_Mutation SNP ENST00000373094.5 exon2 c.C735A p.N245K exonic ENSG00000102290.22 . nonsynonymous SNV ENSG00000102290.22:ENST00000373094.5:exon2:c.C735A:p.N245K Xq21.31 C3L-02890 . . . . . . . . . 13.19 D D D D D D H T D 0.895 D D D 0.491 0.706 0.948 2.476 T T T T D D 1.310 14.460 0.997 N . . . . . 0.000 . . . . . 4.630 3.740 -0.216 0.085 0.549 0.007 0.866 0.979 974 Cadherin_conserved_site;Cadherin-like . . . PCDH11X 234 0 380 24 0.0594059405940594 NA TRUE ENSG00000147255.19 . BCM GRCh38.p13 chrX 131281245 131281245 + C C T Missense_Mutation SNP ENST00000361420.8 exon9 c.G1619A p.R540K exonic ENSG00000147255.19 . nonsynonymous SNV ENSG00000147255.19:ENST00000361420.8:exon9:c.G1619A:p.R540K Xq26.1 C3L-02890 . . . . . . . . . 2.19 D D B B N N N T N 0.209 T T T 0.054 . 0.068 0.189 T T T T T T 0.172 2.812 0.970 N . . . . . 0.990 . . . . . 4.100 1.340 0.255 -0.788 -0.908 0.969 0.566 0.006 61 . . . . IGSF1 102 1 232 17 0.0682730923694779 TRUE NA ENSG00000130338.13 . BCM GRCh38.p13 chr6 158413195 158413195 + T T G Splice_Site SNP NA NA NA NA splicing ENSG00000130338.13 ENST00000367097.8:exon2:c.381+2T>G . . 6q25.3 C3L-02890 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.557 34 0.995 D . 1.112 18.025 0.960 16.591 1.000 0.099 0.105 0.084 0.090 0.987 6.020 6.020 7.894 1.138 0.665 1.000 0.992 0.628 912 . . . . TULP4 54 0 86 6 0.0652173913043478 TRUE TRUE ENSG00000132688.11 . BCM GRCh38.p13 chr1 156676548 156676548 + C C T Silent SNP ENST00000368223.4 exon1 c.G717A p.R239R exonic ENSG00000132688.11 . synonymous SNV ENSG00000132688.11:ENST00000368223.4:exon1:c.G717A:p.R239R 1q23.1 C3L-02890 1.22e-05 0 0 0 0 2.258e-05 0 0 rs775804285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NES 373 0 715 76 0.0960809102402023 TRUE NA ENSG00000116147.17 . BCM GRCh38.p13 chr1 175379619 175379619 + C C T Silent SNP ENST00000367674.7 exon9 c.G1896A p.A632A exonic ENSG00000116147.17 . synonymous SNV ENSG00000116147.17:ENST00000367674.7:exon9:c.G1896A:p.A632A 1q25.1 C3L-02890 1.648e-05 0 8.645e-05 0 0 1.499e-05 0 0 rs763935322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNR 188 0 342 18 0.05 TRUE NA ENSG00000170128.5 . BCM GRCh38.p13 chr1 200873415 200873415 + C C T Silent SNP ENST00000304244.5 exon1 c.C378T p.G126G exonic ENSG00000170128.5 . synonymous SNV ENSG00000170128.5:ENST00000304244.5:exon1:c.C378T:p.G126G 1q32.1 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR25 335 0 454 32 0.065843621399177 TRUE TRUE ENSG00000178171.10 . BCM GRCh38.p13 chr2 130762606 130762606 + G G A Silent SNP ENST00000423981.1 exon2 c.G534A p.A178A exonic ENSG00000178171.10 . synonymous SNV ENSG00000178171.10:ENST00000423981.1:exon2:c.G534A:p.A178A 2q21.1 C3L-02890 8.404e-06 0.0001 0 0 0 0 0 0 rs375834725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100366251;OCCURENCE=1(stomach) AMER3 171 0 311 25 0.0744047619047619 TRUE NA ENSG00000144229.12 . BCM GRCh38.p13 chr2 137642633 137642633 + G G A Silent SNP ENST00000409968.6 exon21 c.G3945A p.E1315E exonic ENSG00000144229.12 . synonymous SNV ENSG00000144229.12:ENST00000409968.6:exon21:c.G3945A:p.E1315E 2q22.1 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THSD7B 111 0 195 25 0.113636363636364 TRUE TRUE ENSG00000172139.15 . BCM GRCh38.p13 chr3 112278756 112278756 + C C T Silent SNP ENST00000305815.10 exon4 c.G291A p.T97T exonic ENSG00000172139.15 . synonymous SNV ENSG00000172139.15:ENST00000305815.10:exon4:c.G291A:p.T97T 3q13.2 C3L-02890 0.0001 9.671e-05 0.0003 0 0 0.0001 0 0 rs200555832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC9C1 142 0 284 18 0.0596026490066225 TRUE NA ENSG00000071794.16 . BCM GRCh38.p13 chr3 149074255 149074255 + C C T Silent SNP ENST00000310053.10 exon4 c.G489A p.Q163Q exonic ENSG00000071794.16 . synonymous SNV ENSG00000071794.16:ENST00000310053.10:exon4:c.G489A:p.Q163Q 3q24 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLTF 156 0 290 16 0.0522875816993464 TRUE TRUE ENSG00000106012.18 . BCM GRCh38.p13 chr7 2610048 2610048 + C C G Silent SNP ENST00000402050.7 exon22 c.C1974G p.P658P exonic ENSG00000106012.18 . synonymous SNV ENSG00000106012.18:ENST00000402050.7:exon22:c.C1974G:p.P658P 7p22.3 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IQCE 121 0 251 17 0.0634328358208955 TRUE NA ENSG00000020577.14 . BCM GRCh38.p13 chr14 54760247 54760247 + G G A Silent SNP ENST00000554335.6 exon7 c.G1263A p.P421P exonic ENSG00000020577.14 . synonymous SNV ENSG00000020577.14:ENST00000554335.6:exon7:c.G1263A:p.P421P 14q22.2 C3L-02890 1.737e-05 0 0 0 0 3.189e-05 0 0 rs763459461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD4A 356 0 711 74 0.0942675159235669 TRUE NA ENSG00000254585.5 . BCM GRCh38.p13 chr15 23645097 23645097 + G G A Silent SNP ENST00000650528.1 exon1 c.C2646T p.S882S exonic ENSG00000254585.5 . synonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.C2646T:p.S882S 15q11.2 C3L-02890 6.641e-05 0 0.0004 0.0001 0 3.007e-05 0 0 rs747679005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58566556;OCCURENCE=2(large_intestine),3(endometrium) MAGEL2 402 0 639 57 0.0818965517241379 TRUE TRUE ENSG00000073670.14 . BCM GRCh38.p13 chr17 44778228 44778228 + G G A Silent SNP ENST00000200557.11 exon25 c.G2262A p.T754T exonic ENSG00000073670.14 . synonymous SNV ENSG00000073670.14:ENST00000200557.11:exon25:c.G2262A:p.T754T 17q21.31 C3L-02890 0.0001 0 0 0 0 0 0 0.0008 rs575543165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52344884;OCCURENCE=1(large_intestine) ADAM11 154 0 321 27 0.0775862068965517 TRUE TRUE ENSG00000183034.13 . BCM GRCh38.p13 chr17 74930739 74930739 + C C T Silent SNP ENST00000331427.9 exon6 c.C1104T p.D368D exonic ENSG00000183034.13 . synonymous SNV ENSG00000183034.13:ENST00000331427.9:exon6:c.C1104T:p.D368D 17q25.1 C3L-02890 . . . . . . . . rs768778471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58882465;OCCURENCE=1(central_nervous_system),1(stomach),1(endometrium) OTOP2 283 0 573 47 0.0758064516129032 TRUE TRUE ENSG00000234775.2 . BCM GRCh38.p13 chr1 203128324 203128324 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000234775.2 . . . 1q32.1 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC105940.2 162 0 341 22 0.0606060606060606 TRUE NA ENSG00000188566.14 . BCM GRCh38.p13 chr9 137205776 137205776 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000188566.14 ENST00000371521.8:c.-2C>T . . 9q34.3 C3L-02890 8.841e-06 0 0 0 0.0002 0 0 0 rs752203472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100641649;OCCURENCE=1(thyroid) NDOR1 437 0 801 98 0.109010011123471 TRUE NA ENSG00000041515.16 . BCM GRCh38.p13 chr13 108886447 108886447 + G G A Intron SNP NA NA NA NA intronic ENSG00000041515.16 . . . 13q33.3 C3L-02890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51796343;OCCURENCE=1(pancreas) MYO16 226 0 408 43 0.0953436807095344 TRUE NA ENSG00000184155.8 . BCM GRCh38.p13 chr1 159535258 159535258 + G G T Missense_Mutation SNP ENST00000334857.3 exon1 c.C750A p.H250Q exonic ENSG00000184155.8 . nonsynonymous SNV ENSG00000184155.8:ENST00000334857.3:exon1:c.C750A:p.H250Q 1q23.2 C3L-02116 . . . . . . . . . 5.19 D T D D . N N T D 0.276 T T T 0.062 0.437 0.546 0.284 T T T T D T 2.070 19.790 0.982 N N -0.118 2.119 -0.316 1.532 0.000 0.487 0.574 0.574 0.564 . 3.980 2.010 0.331 1.176 0.618 0.004 0.887 0.627 866 GPCR,_rhodopsin-like,_7TM . . ID=COSV58386920;OCCURENCE=1(lung) OR10J5 396 0 413 52 0.111827956989247 TRUE TRUE ENSG00000181218.5 . BCM GRCh38.p13 chr1 228457616 228457616 + C C T Missense_Mutation SNP ENST00000366695.3 exon1 c.G202A p.G68S exonic ENSG00000181218.5 . nonsynonymous SNV ENSG00000181218.5:ENST00000366695.3:exon1:c.G202A:p.G68S 1q42.13 C3L-02116 . . . . . . . . . 17.19 D D D D D D M T D 0.868 D D D 0.558 0.708 0.890 2.133 D T D D D . 4.052 27.400 0.996 D D 0.779 8.386 0.635 6.694 1.000 0.442 0.522 0.504 0.373 . 3.840 3.840 5.654 1.026 0.599 1.000 0.966 0.829 320 Histone_H2A/H2B/H3 . . . H2AW 618 0 745 67 0.082512315270936 TRUE TRUE ENSG00000133401.16 . BCM GRCh38.p13 chr5 31799547 31799547 + G G A Missense_Mutation SNP ENST00000438447.2 exon2 c.G299A p.R100H exonic ENSG00000133401.16 . nonsynonymous SNV ENSG00000133401.16:ENST00000438447.2:exon2:c.G299A:p.R100H 5p13.3 C3L-02116 . . . . . . . . rs753717715 11.20 D D D D D D N T N 0.214 T T D 0.351 0.420 0.812 1.097 T T T T D D 4.077 27.600 0.999 D D 0.665 6.657 0.714 8.027 1.000 0.554 0.563 0.602 0.564 . 5.670 5.670 7.106 1.176 0.676 1.000 0.998 0.997 926 PDZ_domain . . ID=COSV56875257;OCCURENCE=1(liver) PDZD2 600 0 789 88 0.100342075256556 NA TRUE ENSG00000249437.8 . BCM GRCh38.p13 chr5 71012795 71012795 + C C T Missense_Mutation SNP ENST00000517649.6 exon4 c.G121A p.E41K exonic ENSG00000249437.8 . nonsynonymous SNV ENSG00000249437.8:ENST00000517649.6:exon4:c.G121A:p.E41K 5q13.2 C3L-02116 . . . . . . . . . 0.20 T T B B N N N T N 0.197 T T T 0.102 0.434 0.414 0.180 T T T T T T -0.055 1.027 0.900 N N -1.338 0.145 -1.408 0.147 0.992 0.554 0.588 0.658 0.530 . 3.250 -1.750 -0.266 -0.528 -1.159 0.000 0.008 0.001 964 . . . . NAIP 580 0 534 32 0.0565371024734982 TRUE TRUE ENSG00000145700.10 . BCM GRCh38.p13 chr5 75146161 75146161 + C C - Frame_Shift_Del NA ENST00000274361.3 exon14 c.3250delG p.V1084Lfs*6 exonic ENSG00000145700.10 . frameshift deletion ENSG00000145700.10:ENST00000274361.3:exon14:c.3250delG:p.V1084Lfs*6 5q13.3 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD31 218 0 139 23 0.141975308641975 TRUE TRUE ENSG00000197226.12 . BCM GRCh38.p13 chr5 179879167 179879167 + G G A Missense_Mutation SNP ENST00000356834.7 exon9 c.C1447T p.H483Y exonic ENSG00000197226.12 . nonsynonymous SNV ENSG00000197226.12:ENST00000356834.7:exon9:c.C1447T:p.H483Y 5q35.3 C3L-02116 . . . . . . . . . 4.19 D D B B N N N T N 0.392 T T D 0.043 0.450 0.236 0.248 T T T T T . 1.514 15.820 0.977 D N -0.799 0.656 -0.677 0.932 0.526 0.707 0.702 0.723 0.714 . 5.280 -1.740 1.442 0.191 -0.156 1.000 0.961 0.876 912 . . . . TBC1D9B 269 1 377 57 0.131336405529954 TRUE TRUE ENSG00000156508.18 . BCM GRCh38.p13 chr6 73518605 73518605 + C C T Missense_Mutation SNP ENST00000309268.11 exon6 c.G778A p.G260S exonic ENSG00000156508.18 . nonsynonymous SNV ENSG00000156508.18:ENST00000309268.11:exon6:c.G778A:p.G260S 6q13 C3L-02116 . . . . . . . . . 16.19 D D P B U D . D D 0.923 D D D 0.905 0.848 0.975 1.723 D D D D D D 4.777 33 0.998 D D 0.656 6.549 0.610 6.357 1.000 0.628 0.672 0.686 0.639 . 4.710 4.710 7.573 1.005 0.599 1.000 0.998 0.898 917 Translation_elongation_factor_EFTu-like,_domain_2 . . ID=COSV58549690;OCCURENCE=1(skin) EEF1A1 246 0 319 25 0.0726744186046512 TRUE TRUE ENSG00000104313.20 . BCM GRCh38.p13 chr8 71271813 71271813 + C C T Missense_Mutation SNP ENST00000340726.8 exon10 c.G911A p.R304H exonic ENSG00000104313.20 . nonsynonymous SNV ENSG00000104313.20:ENST00000340726.8:exon10:c.G911A:p.R304H 8q13.3 C3L-02116 . . . . . . . . rs1036380891 20.20 D D D D D D M D D 0.682 D D D 0.591 0.452 0.829 0.922 D D D D D D 4.143 28.100 1.000 D D 0.849 9.825 0.835 11.233 1.000 0.554 0.574 0.618 0.564 . 5.700 5.700 7.520 1.026 0.599 1.000 1.000 0.999 440 . . . ID=COSV58159592;OCCURENCE=1(kidney) EYA1 1076 2 1066 105 0.089666951323655 NA TRUE ENSG00000122728.6 . BCM GRCh38.p13 chr9 32633085 32633085 + C C T Missense_Mutation SNP ENST00000242310.4 exon1 c.G2495A p.R832H exonic ENSG00000122728.6 . nonsynonymous SNV ENSG00000122728.6:ENST00000242310.4:exon1:c.G2495A:p.R832H 9p21.1 C3L-02116 . . . . . . . . . 11.20 D D D D D D H T D 0.610 T T T 0.475 0.771 0.576 0.307 T T T T D D 3.084 23.600 0.999 D N 0.421 4.477 0.192 3.147 0.979 0.638 0.670 0.659 0.655 . 1.190 1.190 5.164 0.258 0.222 1.000 0.979 0.958 835 Transcription_initiation_factor_TFIID_subunit_1,_domain_of_unknown_function . . ID=COSV54258209;OCCURENCE=3(breast),1(liver),2(large_intestine),1(stomach) TAF1L 1118 2 1105 110 0.0905349794238683 NA TRUE ENSG00000165606.8 . BCM GRCh38.p13 chr10 49390222 49390222 + C C T Missense_Mutation SNP ENST00000374139.6 exon3 c.G145A p.E49K exonic ENSG00000165606.8 . nonsynonymous SNV ENSG00000165606.8:ENST00000374139.6:exon3:c.G145A:p.E49K 10q11.23 C3L-02116 . . . . . . . . . 18.18 D D . . D D M D D 0.909 D D D 0.960 . 0.938 0.759 D D D D D D 3.981 26.800 0.999 D D 1.008 14.174 0.933 15.236 1.000 0.497 0.590 0.578 0.530 . 5.600 5.600 7.568 1.026 0.599 1.000 0.944 0.960 830 Homeobox_domain . . ID=COSV65136841;OCCURENCE=3(large_intestine) DRGX 372 0 343 36 0.0949868073878628 TRUE TRUE ENSG00000197658.9 . BCM GRCh38.p13 chr11 63096066 63096066 + C C T Missense_Mutation SNP ENST00000612278.4 exon6 c.G995A p.R332Q exonic ENSG00000197658.9 . nonsynonymous SNV ENSG00000197658.9:ENST00000612278.4:exon6:c.G995A:p.R332Q 11q12.3 C3L-02116 . . . . . . . . rs371518525 0.17 T T B B . N . T N 0.082 T T T 0.135 0.719 0.148 0.006 T . T T T T 0.365 5.030 0.255 N N -1.807 0.023 -1.714 0.048 0.000 0.487 0.574 0.574 0.530 . 3.680 1.280 0.085 -0.377 -0.896 0.037 0.000 0.000 809 Major_facilitator_superfamily_domain . . ID=COSV70301809;OCCURENCE=2(skin) SLC22A24 336 0 336 29 0.0794520547945206 TRUE NA ENSG00000186635.14 . BCM GRCh38.p13 chr11 72726701 72726701 + G G A Missense_Mutation SNP ENST00000393609.7 exon3 c.C428T p.P143L exonic ENSG00000186635.14 . nonsynonymous SNV ENSG00000186635.14:ENST00000393609.7:exon3:c.C428T:p.P143L 11q13.4 C3L-02116 0 0 0 0 0 0 0 0 rs372690916 8.20 D D B B N D L T D 0.526 T T D 0.120 . 0.378 1.071 T T T T T D 2.653 22.700 0.999 D D -0.053 2.330 0.063 2.589 1.000 0.745 0.725 0.732 0.655 . 4.860 4.860 5.382 1.176 0.676 1.000 0.887 0.092 455 . . . . ARAP1 141 0 191 30 0.135746606334842 TRUE NA ENSG00000095110.8 . BCM GRCh38.p13 chr11 114522486 114522486 + G G A Missense_Mutation SNP ENST00000534921.2 exon9 c.C1126T p.L376F exonic ENSG00000095110.8 . nonsynonymous SNV ENSG00000095110.8:ENST00000534921.2:exon9:c.C1126T:p.L376F 11q23.2 C3L-02116 . . . . . . . . . 5.20 T T D D N N M T N 0.255 T T T 0.274 0.659 0.286 0.158 T T T T D T 3.172 23.800 0.998 D N 0.369 4.156 0.277 3.586 0.004 0.487 0.590 0.574 0.564 . 4.440 2.480 2.575 1.176 0.676 1.000 1.000 0.997 889 . . . . NXPE1 106 0 131 16 0.108843537414966 TRUE NA ENSG00000215009.5 . BCM GRCh38.p13 chr12 7322471 7322471 + C C G Missense_Mutation SNP ENST00000399422.4 exon7 c.C1055G p.P352R exonic ENSG00000215009.5 . nonsynonymous SNV ENSG00000215009.5:ENST00000399422.4:exon7:c.C1055G:p.P352R 12p13.31 C3L-02116 . . . . . . . . . 11.20 D D D D U D M T D 0.553 T T T 0.286 0.560 0.517 0.444 T T T T D D 3.672 25.300 0.998 D D 0.536 5.331 0.451 4.742 0.005 0.554 0.588 0.574 0.586 . 3.270 3.270 6.363 0.071 0.426 1.000 0.248 0.921 702 AMP-dependent_synthetase/ligase . . . ACSM4 351 0 453 53 0.104743083003953 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227341 25227341 + T T G Missense_Mutation SNP ENST00000256078.10 exon3 c.A183C p.Q61H exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A183C:p.Q61H 12p12.1 C3L-02116 . . . . . . . . rs17851045 17.20 D D B B D D M D D 0.760 D D D 0.644 0.659 0.905 1.857 D D D D D T 2.993 23.400 0.997 D D 0.298 3.768 0.383 4.239 0.998 0.722 0.710 0.710 0.735 . 5.770 5.770 2.812 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55498802;OCCURENCE=2(breast),6(liver),1(genital_tract),1(cervix),117(large_intestine),2(central_nervous_system),17(biliary_tract),3(ovary),8(stomach),50(haematopoietic_and_lymphoid_tissue),2(urinary_tract),1(kidney),71(pancreas),2(skin),2(prostate),28(lung),1(thyroid),2(small_intestine),5(endometrium) KRAS 324 0 305 43 0.123563218390805 TRUE TRUE ENSG00000139354.11 . BCM GRCh38.p13 chr12 100622330 100622330 + A A G Missense_Mutation SNP ENST00000547754.6 exon9 c.A704G p.E235G exonic ENSG00000139354.11 . nonsynonymous SNV ENSG00000139354.11:ENST00000547754.6:exon9:c.A704G:p.E235G 12q23.1 C3L-02116 . . . . . . . . . 15.20 D D D D D D M T D 0.949 T T T 0.575 0.544 0.606 0.481 D T D D D D 4.312 29.700 0.999 D D 0.763 8.106 0.744 8.662 1.000 0.651 0.547 0.618 0.684 . 5.900 5.900 8.559 1.312 0.756 1.000 1.000 0.997 586 GAR_domain . . . GAS2L3 222 0 176 18 0.0927835051546392 TRUE TRUE ENSG00000139354.11 . BCM GRCh38.p13 chr12 100624055 100624055 + C C A Missense_Mutation SNP ENST00000547754.6 exon10 c.C1250A p.S417Y exonic ENSG00000139354.11 . nonsynonymous SNV ENSG00000139354.11:ENST00000547754.6:exon10:c.C1250A:p.S417Y 12q23.1 C3L-02116 . . . . . . . . . 3.20 D D B B N N M T N 0.256 T T T 0.036 0.265 0.424 0.194 T T T T T T 0.858 9.984 0.923 N N -0.805 0.648 -0.893 0.630 0.000 0.707 0.588 0.653 0.714 . 4.790 1.780 0.189 0.038 -0.182 0.033 0.005 0.009 590 . . . . GAS2L3 580 0 612 54 0.0810810810810811 TRUE TRUE ENSG00000137801.11 . BCM GRCh38.p13 chr15 39589884 39589884 + A A G Missense_Mutation SNP ENST00000260356.6 exon13 c.A2006G p.Y669C exonic ENSG00000137801.11 . nonsynonymous SNV ENSG00000137801.11:ENST00000260356.6:exon13:c.A2006G:p.Y669C 15q14 C3L-02116 . . . . . . . . . 8.20 D T D P N D L T N 0.584 T T D 0.394 0.434 0.465 1.221 T T T T D D 4.219 28.800 0.998 D D 0.252 3.540 0.367 4.133 1.000 0.672 0.610 0.702 0.658 . 5.990 4.800 3.072 1.312 0.756 1.000 0.987 0.988 878 EGF-like_domain . . . THBS1 257 0 356 29 0.0753246753246753 TRUE NA ENSG00000166415.15 . BCM GRCh38.p13 chr15 53613727 53613727 + C C A Missense_Mutation SNP ENST00000360509.10 exon16 c.G2811T p.K937N exonic ENSG00000166415.15 . nonsynonymous SNV ENSG00000166415.15:ENST00000360509.10:exon16:c.G2811T:p.K937N 15q21.3 C3L-02116 . . . . . . . . . 8.20 D D D D D N M T N 0.632 T T D 0.163 0.650 0.436 0.024 T T T T D T 2.101 20.100 0.998 N N 0.040 2.656 -0.130 1.965 0.007 0.487 0.574 0.574 0.613 . 5.290 4.380 0.185 0.074 0.549 0.093 0.020 0.176 895 . . . . WDR72 291 1 288 35 0.108359133126935 TRUE TRUE ENSG00000149654.11 . BCM GRCh38.p13 chr20 46241002 46241002 + C C T Missense_Mutation SNP ENST00000537909.4 exon3 c.G511A p.G171S exonic ENSG00000149654.11 . nonsynonymous SNV ENSG00000149654.11:ENST00000537909.4:exon3:c.G511A:p.G171S 20q13.12 C3L-02116 8.408e-06 0 0 0.0001 0 0 0 0 rs754632908 12.20 D D D P D D N T D 0.854 T T D 0.302 0.297 0.621 . D T T T D D 3.621 25.100 0.998 D D 0.278 3.669 0.306 3.754 1.000 0.516 0.610 0.602 0.542 . 4.430 4.430 7.568 1.026 0.599 1.000 0.988 0.785 442 Cadherin-like . . ID=COSV64838261;OCCURENCE=1(biliary_tract) CDH22 227 0 328 37 0.101369863013699 TRUE TRUE ENSG00000081479.15 . BCM GRCh38.p13 chr2 169243523 169243523 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000081479.15 ENST00000649046.1:exon23:c.3431-1G>A . . 2q31.1 C3L-02116 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.762 33 0.989 D . 0.970 12.994 0.769 9.257 1.000 0.054 0.060 0.060 0.059 0.978 6.030 6.030 7.361 1.015 0.599 1.000 0.202 0.242 898 . . . . LRP2 471 0 375 32 0.0786240786240786 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51067188 51067188 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000141646.14 ENST00000342988.8:exon10:c.1308+1G>C . . 18q21.2 C3L-02116 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.667 34 0.996 D . 1.214 25.064 1.064 23.473 1.000 0.322 0.319 0.138 0.090 0.984 5.170 5.170 9.819 1.176 0.676 1.000 0.995 0.971 886 . . . ID=COSV61690413;OCCURENCE=1(endometrium) SMAD4 417 0 314 49 0.134986225895317 TRUE TRUE ENSG00000162437.14 . BCM GRCh38.p13 chr1 64745352 64745352 + G G A Silent SNP ENST00000294428.7 exon1 c.G180A p.R60R exonic ENSG00000162437.14 . synonymous SNV ENSG00000162437.14:ENST00000294428.7:exon1:c.G180A:p.R60R 1p31.3 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAVER2 316 1 313 47 0.130555555555556 TRUE TRUE ENSG00000183873.17 . BCM GRCh38.p13 chr3 38604882 38604882 + G G A Silent SNP ENST00000333535.9 exon11 c.C1365T p.T455T exonic ENSG00000183873.17 . synonymous SNV ENSG00000183873.17:ENST00000333535.9:exon11:c.C1365T:p.T455T 3p22.2 C3L-02116 1.898e-05 0 0 0 0 1.697e-05 0 7.029e-05 rs747138429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN5A 261 0 272 46 0.144654088050314 TRUE NA ENSG00000249437.8 . BCM GRCh38.p13 chr5 71012883 71012883 + C C T Silent SNP ENST00000517649.6 exon4 c.G33A p.R11R exonic ENSG00000249437.8 . synonymous SNV ENSG00000249437.8:ENST00000517649.6:exon4:c.G33A:p.R11R 5q13.2 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAIP 243 0 232 14 0.0569105691056911 TRUE TRUE ENSG00000261934.2 . BCM GRCh38.p13 chr5 141403351 141403351 + C C T Silent SNP ENST00000573521.1 exon1 c.C399T p.F133F exonic ENSG00000261934.2 . synonymous SNV ENSG00000261934.2:ENST00000573521.1:exon1:c.C399T:p.F133F 5q31.3 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA9 360 0 484 57 0.105360443622921 TRUE TRUE ENSG00000133878.9 . BCM GRCh38.p13 chr8 33593627 33593627 + C C T Silent SNP ENST00000256261.9 exon3 c.G342A p.L114L exonic ENSG00000133878.9 . synonymous SNV ENSG00000133878.9:ENST00000256261.9:exon3:c.G342A:p.L114L 8p12 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DUSP26 492 1 779 100 0.113765642775882 TRUE NA ENSG00000148408.13 . BCM GRCh38.p13 chr9 138121678 138121678 + C C T Silent SNP ENST00000371372.6 exon47 c.C6699T p.S2233S exonic ENSG00000148408.13 . synonymous SNV ENSG00000148408.13:ENST00000371372.6:exon47:c.C6699T:p.S2233S 9q34.3 C3L-02116 5.022e-05 0 8.688e-05 0 0 7.591e-05 0 0 rs200996202 8.14 D D . . . D . D N 0.056 T D D 0.315 0.289 0.502 . . . D D T T -0.264 0.371 0.953 N N -1.403 0.116 -1.620 0.070 1.000 0.646 0.590 0.645 0.613 . 5.110 -10.200 -5.293 -1.456 -1.078 0.000 0.961 0.722 994 . . . ID=COSV53136715;OCCURENCE=1(large_intestine) CACNA1B 204 0 305 48 0.135977337110482 TRUE TRUE ENSG00000075826.17 . BCM GRCh38.p13 chr10 100509397 100509397 + C C T Silent SNP ENST00000370345.8 exon4 c.G318A p.L106L exonic ENSG00000075826.17 . synonymous SNV ENSG00000075826.17:ENST00000370345.8:exon4:c.G318A:p.L106L 10q24.31 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC31B 333 0 345 20 0.0547945205479452 TRUE TRUE ENSG00000185100.10 . BCM GRCh38.p13 chr14 104744824 104744824 + G G A Silent SNP ENST00000330877.6 exon11 c.G1086A p.T362T exonic ENSG00000185100.10 . synonymous SNV ENSG00000185100.10:ENST00000330877.6:exon11:c.G1086A:p.T362T 14q32.33 C3L-02116 1.653e-05 0 0 0 0 0 0 0.0001 rs760343931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58272681;OCCURENCE=1(endometrium) ADSS1 288 0 278 34 0.108974358974359 TRUE TRUE ENSG00000159495.8 . BCM GRCh38.p13 chr15 43292878 43292878 + G G A Silent SNP ENST00000452443.3 exon3 c.C270T p.S90S exonic ENSG00000159495.8 . synonymous SNV ENSG00000159495.8:ENST00000452443.3:exon3:c.C270T:p.S90S 15q15.2 C3L-02116 8.247e-06 0 0 0.0001 0 0 0 0 rs753185732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101476840;OCCURENCE=2(central_nervous_system) TGM7 582 1 674 51 0.0703448275862069 TRUE NA ENSG00000103876.13 . BCM GRCh38.p13 chr15 80162322 80162322 + G G T Silent SNP ENST00000561421.6 exon5 c.G441T p.A147A exonic ENSG00000103876.13 . synonymous SNV ENSG00000103876.13:ENST00000561421.6:exon5:c.G441T:p.A147A 15q25.1 C3L-02116 1.647e-05 0 0 0 0 2.997e-05 0 0 rs141863249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAH 710 1 805 51 0.0595794392523364 TRUE NA ENSG00000157423.18 . BCM GRCh38.p13 chr16 71027620 71027620 + G G A Silent SNP ENST00000393567.7 exon20 c.C3024T p.G1008G exonic ENSG00000157423.18 . synonymous SNV ENSG00000157423.18:ENST00000393567.7:exon20:c.C3024T:p.G1008G 16q22.2 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HYDIN 574 0 723 74 0.0928481806775408 NA TRUE ENSG00000131746.13 . BCM GRCh38.p13 chr17 40487133 40487133 + G G T Silent SNP ENST00000254051.11 exon4 c.C1191A p.S397S exonic ENSG00000131746.13 . synonymous SNV ENSG00000131746.13:ENST00000254051.11:exon4:c.C1191A:p.S397S 17q21.2 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNS4 613 1 772 84 0.0981308411214953 TRUE TRUE ENSG00000087074.8 . BCM GRCh38.p13 chr19 48875904 48875904 + T T A Silent SNP ENST00000200453.6 exon3 c.T1956A p.A652A exonic ENSG00000087074.8 . synonymous SNV ENSG00000087074.8:ENST00000200453.6:exon3:c.T1956A:p.A652A 19q13.33 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R15A 165 0 153 23 0.130681818181818 TRUE TRUE ENSG00000213057.5 . BCM GRCh38.p13 chr1 178545707 178545707 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000213057.5 . . . 1q25.2 C3L-02116 4.12e-05 0.0002 0 0.0001 0.0002 0 0 6.056e-05 rs145498551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C1orf220 439 0 500 53 0.0958408679927667 TRUE NA ENSG00000225182.1 . BCM GRCh38.p13 chr2 166903777 166903777 + G G A IGR SNP NA NA NA NA intergenic ENSG00000225182.1;ENSG00000254552.1 dist=13893;dist=220127 . . 2q24.3 C3L-02116 . . . . . . . . . 7.17 D D P P . N . D N 0.253 T D D 0.152 0.162 0.453 0.104 T . T T D T 2.346 21.800 0.999 D N 0.243 3.500 0.188 3.125 0.015 0.554 0.574 0.618 0.564 . 5.120 5.120 3.261 1.176 0.676 0.996 0.763 0.048 272 . . . ID=COSV54687771;OCCURENCE=2(skin) AC092601.1 529 0 597 36 0.0568720379146919 TRUE TRUE ENSG00000242428.6 . BCM GRCh38.p13 chr3 58913699 58913699 + T T G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000242428.6 . . . 3p14.2 C3L-02116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C3orf67-AS1 527 0 435 42 0.0880503144654088 TRUE NA ENSG00000163749.17 . BCM GRCh38.p13 chr4 76375701 76375701 + T T C Intron SNP NA NA NA NA intronic ENSG00000163749.17 . . . 4q21.1 C3L-02116 . . . . . . . . . 2.16 T T B B . D . T N 0.230 T T T 0.046 0.118 0.254 . . . T T T T 2.206 20.900 0.964 D N -0.528 1.121 -0.409 1.356 0.982 0.487 0.574 0.547 0.542 . 5.810 3.210 2.251 0.065 -0.171 1.000 0.998 0.912 767 . . . . CCDC158 152 0 110 16 0.126984126984127 TRUE NA ENSG00000187955.12 . BCM GRCh38.p13 chr8 120370335 120370335 + G G T Intron SNP NA NA NA NA intronic ENSG00000187955.12 . . . 8q24.12 C3L-02116 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 3.463 24.600 0.995 D . 0.367 4.144 0.438 4.639 1.000 0.075 0.063 0.079 0.059 0.975 4.990 4.990 6.068 1.176 0.676 1.000 0.977 0.746 691 . . . . COL14A1 263 1 230 26 0.1015625 TRUE NA ENSG00000198855.7 . BCM GRCh38.p13 chr12 108518258 108518258 + C C T Intron SNP NA NA NA NA intronic ENSG00000198855.7 . . . 12q23.3 C3L-02116 . . . . . . . . rs774851840 1.12 D . . . . N . . N 0.134 T T T 0.010 0.292 0.340 . . . T T T T -1.170 0.003 0.617 N N -1.339 0.144 -1.562 0.086 1.000 0.406 0.380 0.487 0.509 . 3.250 -4.320 -4.132 -2.519 -1.916 0.000 0.000 0.000 888 . . . . FICD 688 0 841 78 0.0848748639825898 TRUE NA ENSG00000167798.17 . BCM GRCh38.p13 chr19 10049999 10049999 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000167798.17 . . . 19p13.2 C3L-02116 1.657e-05 0 0 0 0 2.999e-05 0 0 rs771970106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C3P1 262 0 260 19 0.0681003584229391 TRUE NA ENSG00000283685.1 . BCM GRCh38.p13 chr19 53751240 53751240 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000283685.1 . . . 19q13.42 C3L-02116 6.617e-05 0.0002 0 0 0 9.05e-05 0 0 rs146976572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR522 298 0 206 15 0.0678733031674208 TRUE NA ENSG00000116690.13 . BCM GRCh38.p13 chr1 186312232 186312232 + G G A Missense_Mutation SNP ENST00000445192.7 exon11 c.G3851A p.R1284K exonic ENSG00000116690.13 . nonsynonymous SNV ENSG00000116690.13:ENST00000445192.7:exon11:c.G3851A:p.R1284K 1q31.1 C3L-01453 . . . . . . . . . 2.20 T T B B N N L T N 0.220 T T T 0.055 0.347 0.040 0.036 T T T T D T 2.792 23.000 0.961 N D -0.219 1.824 -0.145 1.923 0.831 0.372 0.546 0.487 0.492 . 5.380 4.460 2.349 1.176 0.618 0.221 0.998 0.995 259 Hemopexin-like_domain . . ID=COSV63355732;OCCURENCE=1(urinary_tract) PRG4 264 0 397 58 0.127472527472527 TRUE TRUE ENSG00000172954.13 . BCM GRCh38.p13 chr2 30459661 30459661 + A A G Missense_Mutation SNP ENST00000309052.8 exon2 c.A49G p.I17V exonic ENSG00000172954.13 . nonsynonymous SNV ENSG00000172954.13:ENST00000309052.8:exon2:c.A49G:p.I17V 2p23.1 C3L-01453 4.942e-05 0 0 0.0003 0 1.499e-05 0 0.0001 rs753684188 1.19 T D B B U N N T N 0.139 T T T 0.007 0.221 0.110 0.210 . T T T T T -0.202 0.506 0.189 N N -1.801 0.023 -1.898 0.022 1.000 0.554 0.546 0.527 0.568 . 2.980 -5.950 -1.141 -1.055 -0.878 0.000 0.001 0.004 946 . . . . LCLAT1 349 0 482 59 0.1090573012939 TRUE NA ENSG00000168702.18 . BCM GRCh38.p13 chr2 141229266 141229266 + G G A Missense_Mutation SNP ENST00000389484.8 exon6 c.C767T p.S256L exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon6:c.C767T:p.S256L 2q22.1 C3L-01453 8.262e-06 0 0 0 0 1.502e-05 0 0 rs772492671 10.20 T D B B U D M D N 0.293 D D D 0.249 0.463 0.251 0.290 T T T T D T 2.465 22.300 0.997 D D -0.020 2.443 0.165 3.019 0.999 0.487 0.574 0.574 0.564 . 5.200 5.200 3.688 1.176 0.618 1.000 1.000 0.998 639 . . . . LRP1B 364 0 426 56 0.116182572614108 TRUE NA ENSG00000155657.27 . BCM GRCh38.p13 chr2 178579615 178579615 + C C A Nonsense_Mutation SNP ENST00000591111.5 exon269 c.G62659T p.E20887X exonic ENSG00000155657.27 . stopgain ENSG00000155657.27:ENST00000591111.5:exon269:c.G62659T:p.E20887X 2q31.2 C3L-01453 . . . . . . . . . 4.5 . . . . . A . . . 0.973 . . . . . . . . . D D . . 13.508 63 0.976 D N 1.237 27.629 1.105 27.694 1.000 0.563 0.654 0.602 0.621 . 5.780 5.780 6.123 1.026 0.599 1.000 1.000 1.000 430 Fibronectin_type_III . . . TTN 416 0 613 69 0.101173020527859 TRUE TRUE ENSG00000079263.19 . BCM GRCh38.p13 chr2 230312592 230312592 + G G C Missense_Mutation SNP ENST00000392045.8 exon27 c.G2512C p.D838H exonic ENSG00000079263.19 . nonsynonymous SNV ENSG00000079263.19:ENST00000392045.8:exon27:c.G2512C:p.D838H 2q37.1 C3L-01453 . . . . . . . . . 7.19 D D D P . N M T D 0.199 T T T 0.035 0.420 0.414 2.281 T T T T D D 2.335 21.800 0.983 N N -0.442 1.295 -0.661 0.956 0.001 0.707 0.725 0.547 0.586 . 3.300 0.135 -0.092 -0.225 -0.242 0.000 0.162 0.581 938 Bromodomain . . . SP140 215 0 255 36 0.123711340206186 TRUE TRUE ENSG00000060971.18 . BCM GRCh38.p13 chr3 38129336 38129336 + G G A Missense_Mutation SNP ENST00000333167.13 exon6 c.C499T p.R167C exonic ENSG00000060971.18 . nonsynonymous SNV ENSG00000060971.18:ENST00000333167.13:exon6:c.C499T:p.R167C 3p22.2 C3L-01453 8.243e-06 0 8.646e-05 0 0 0 0 0 rs751653410 15.20 D D B B D D M D D 0.348 D D D 0.594 0.619 0.948 0.493 T D D D T D 2.735 22.900 0.999 D N -0.054 2.326 -0.029 2.263 1.000 0.707 0.725 0.725 0.714 . 5.550 4.680 2.498 1.157 0.654 0.957 0.655 0.818 553 Thiolase,_N-terminal . . . ACAA1 161 0 239 47 0.164335664335664 TRUE NA ENSG00000172771.12 . BCM GRCh38.p13 chr3 129408671 129408671 + G G A Missense_Mutation SNP ENST00000505956.6 exon6 c.C1223T p.P408L exonic ENSG00000172771.12 . nonsynonymous SNV ENSG00000172771.12:ENST00000505956.6:exon6:c.C1223T:p.P408L 3q21.3 C3L-01453 3.297e-05 0 0 0 0 6.862e-05 0 0 rs747911030 8.20 D D D D N N M T D 0.329 T T T 0.140 0.460 0.229 0.307 T T T T D T 3.188 23.800 0.997 D N 0.052 2.703 0.013 2.404 0.837 0.615 0.588 0.659 0.542 . 5.340 3.490 1.561 -0.549 -1.477 0.995 0.030 0.129 439 . . . . EFCAB12 268 0 421 63 0.130165289256198 TRUE NA ENSG00000071794.16 . BCM GRCh38.p13 chr3 149064845 149064845 + A A C Missense_Mutation SNP ENST00000310053.10 exon9 c.T1012G p.S338A exonic ENSG00000071794.16 . nonsynonymous SNV ENSG00000071794.16:ENST00000310053.10:exon9:c.T1012G:p.S338A 3q24 C3L-01453 . . . . . . . . . 2.19 T T B B . N L D N 0.128 T T D 0.170 0.393 0.644 0.148 T T T T T T 0.005 1.369 0.307 N N -1.292 0.169 -1.262 0.235 0.011 0.732 0.744 0.710 0.728 . 5.650 1.890 0.452 -0.135 -0.059 0.204 0.006 0.006 888 Helicase_superfamily_1/2,_ATP-binding_domain;SNF2-related,_N-terminal_domain . . . HLTF 194 0 302 29 0.0876132930513595 TRUE TRUE ENSG00000138741.11 . BCM GRCh38.p13 chr4 121951529 121951529 + G G C Missense_Mutation SNP ENST00000379645.8 exon1 c.C152G p.S51W exonic ENSG00000138741.11 . nonsynonymous SNV ENSG00000138741.11:ENST00000379645.8:exon1:c.C152G:p.S51W 4q27 C3L-01453 . . . . . . . . . 4.16 D D . . U N . T N 0.247 T T D 0.126 0.307 0.327 1.058 T . T T D T 1.849 18.100 0.960 N N -0.656 0.889 -0.736 0.848 1.000 0.437 0.492 0.607 0.555 . 2.780 1.900 0.212 0.993 0.616 0.000 0.139 0.055 658 . . . . TRPC3 51 0 148 18 0.108433734939759 TRUE TRUE ENSG00000038295.8 . BCM GRCh38.p13 chr4 165994492 165994492 + C C A Missense_Mutation SNP ENST00000061240.7 exon4 c.C473A p.P158H exonic ENSG00000038295.8 . nonsynonymous SNV ENSG00000038295.8:ENST00000061240.7:exon4:c.C473A:p.P158H 4q32.3 C3L-01453 . . . . . . . . . 17.20 D D D D U D H T D 0.826 D D D 0.759 0.806 0.905 0.964 T D D D D D 3.634 25.200 0.996 D D 0.924 11.675 0.805 10.263 1.000 0.638 0.574 0.574 0.668 . 5.720 5.720 7.905 1.000 0.599 1.000 0.971 0.583 923 Peptidase,_metallopeptidase;Peptidase_M12A;Tolloid/BMP1_peptidase_domain . . . TLL1 343 0 486 77 0.136767317939609 TRUE NA ENSG00000164199.18 . BCM GRCh38.p13 chr5 90617898 90617898 + G G A Missense_Mutation SNP ENST00000405460.9 exon3 c.G302A p.C101Y exonic ENSG00000164199.18 . nonsynonymous SNV ENSG00000164199.18:ENST00000405460.9:exon3:c.G302A:p.C101Y 5q14.3 C3L-01453 . . . . . . . . . 11.19 D D D P D D . T D 0.856 T T D 0.285 0.499 0.706 0.106 T T T T D D 3.299 24.100 0.993 D D 0.400 4.345 0.466 4.864 1.000 0.554 0.574 0.602 0.564 . 5.560 5.560 4.734 1.166 0.665 1.000 1.000 1.000 791 . . . . ADGRV1 174 0 284 47 0.141993957703928 TRUE TRUE ENSG00000113657.13 . BCM GRCh38.p13 chr5 147415789 147415789 + C C G Missense_Mutation SNP ENST00000398514.7 exon4 c.G398C p.C133S exonic ENSG00000113657.13 . nonsynonymous SNV ENSG00000113657.13:ENST00000398514.7:exon4:c.G398C:p.C133S 5q32 C3L-01453 . . . . . . . . . 17.20 T D P D D D M D D 0.914 D D D 0.791 0.752 0.540 0.979 T D D D D D 3.851 26.100 0.992 D D 0.874 10.392 0.861 12.184 1.000 0.707 0.574 0.702 0.714 . 6.030 5.150 7.863 1.026 0.599 1.000 0.999 0.989 769 Amidohydrolase-related . . . DPYSL3 227 0 370 54 0.127358490566038 TRUE TRUE ENSG00000184347.15 . BCM GRCh38.p13 chr5 168708098 168708098 + G G A Missense_Mutation SNP ENST00000519560.6 exon26 c.C2722T p.P908S exonic ENSG00000184347.15 . nonsynonymous SNV ENSG00000184347.15:ENST00000519560.6:exon26:c.C2722T:p.P908S 5q34 C3L-01453 . . . . . . . . . 10.20 D D P B D D L T D 0.468 T T D 0.507 0.531 0.299 0.526 T T T T D D 3.992 26.900 0.998 D D 0.319 3.880 0.399 4.355 0.953 0.615 0.563 0.659 0.613 . 4.940 4.940 5.728 1.176 0.618 1.000 0.999 0.993 947 . . . . SLIT3 188 0 355 49 0.121287128712871 TRUE TRUE ENSG00000106246.18 . BCM GRCh38.p13 chr7 99429660 99429660 + C C A Missense_Mutation SNP ENST00000292478.9 exon4 c.G741T p.L247F exonic ENSG00000106246.18;ENSG00000248919.7 . nonsynonymous SNV ENSG00000106246.18:ENST00000292478.9:exon4:c.G741T:p.L247F,ENSG00000248919.7:ENST00000413834.5:exon5:c.G888T:p.L296F 7q22.1 C3L-01453 . . . . . . . . . 10.20 T D D D D D M T N 0.568 T T D 0.228 0.293 0.685 0.506 T T T T D D 3.116 23.700 0.998 D N 0.156 3.114 0.068 2.608 0.000 0.672 0.702 0.702 0.636 . 5.340 1.200 -0.234 0.122 0.596 0.593 0.996 0.997 397 Pentacotripeptide-repeat_region_of_PRORP . . . PTCD1 605 2 2111 144 0.0638580931263858 TRUE TRUE ENSG00000166526.18 . BCM GRCh38.p13 chr7 100072095 100072095 + T T C Missense_Mutation SNP ENST00000299667.9 exon6 c.A389G p.Y130C exonic ENSG00000166526.18 . nonsynonymous SNV ENSG00000166526.18:ENST00000299667.9:exon6:c.A389G:p.Y130C 7q22.1 C3L-01453 . . . . . . . . . 1.20 T T B B N D N T N 0.188 T T T 0.044 0.371 0.175 0.373 T T T T T T 1.400 15.080 0.780 N N -0.671 0.863 -0.563 1.103 0.799 0.672 0.702 0.702 0.711 . 4.680 2.370 0.274 1.138 0.609 0.113 1.000 0.987 137 Krueppel-associated_box . . . ZNF3 278 0 859 61 0.066304347826087 TRUE NA ENSG00000008282.8 . BCM GRCh38.p13 chr7 106091813 106091813 + C C T Missense_Mutation SNP ENST00000011473.6 exon6 c.G772A p.G258R exonic ENSG00000008282.8 . nonsynonymous SNV ENSG00000008282.8:ENST00000011473.6:exon6:c.G772A:p.G258R 7q22.3 C3L-01453 3.312e-05 0 0 0.0001 0 3.013e-05 0 6.103e-05 rs773642336 5.20 D D D P N D L T N 0.194 T T T 0.164 0.242 0.320 0.605 T T T T T T 3.213 23.900 0.999 D N 0.408 4.396 0.411 4.440 1.000 0.732 0.723 0.710 0.728 . 5.770 5.770 1.813 1.026 0.594 0.939 0.688 0.897 936 . . . . SYPL1 176 0 224 47 0.173431734317343 TRUE NA ENSG00000183117.19 . BCM GRCh38.p13 chr8 3029322 3029322 + G G A Nonsense_Mutation SNP ENST00000635120.2 exon51 c.C7852T p.R2618X exonic ENSG00000183117.19 . stopgain ENSG00000183117.19:ENST00000635120.2:exon51:c.C7852T:p.R2618X 8p23.2 C3L-01453 1.715e-05 0 0 0.0001 0 1.532e-05 0 0 rs766376387 5.7 . . . . N A . . . 0.940 . . . . . . . . . D D D . 7.745 39 0.976 D N 0.134 3.024 -0.204 1.776 0.000 0.554 0.574 0.602 0.564 . 4.880 -0.495 1.912 -0.214 -0.265 0.740 0.000 0.004 964 Sushi/SCR/CCP_domain . . ID=COSV59284438;OCCURENCE=1(liver),1(large_intestine),1(endometrium) CSMD1 94 1 158 23 0.12707182320442 TRUE TRUE ENSG00000147789.15 . BCM GRCh38.p13 chr8 144842319 144842319 + G G C Missense_Mutation SNP ENST00000528372.5 exon5 c.G1212C p.Q404H exonic ENSG00000147789.15 . nonsynonymous SNV ENSG00000147789.15:ENST00000528372.5:exon5:c.G1212C:p.Q404H 8q24.3 C3L-01453 . . . . . . . . . 6.19 T D D P N N M T D 0.297 T T T 0.076 0.485 0.210 0.086 T T T T D T 1.739 17.300 0.994 D . -0.445 1.287 -0.618 1.019 0.992 0.672 0.702 0.702 0.636 . 4.790 -2.350 1.034 0.105 0.662 0.001 0.995 0.985 759 . . . . ZNF7 329 0 473 126 0.210350584307179 TRUE TRUE ENSG00000111679.17 . BCM GRCh38.p13 chr12 6952060 6952060 + C C T Missense_Mutation SNP ENST00000318974.14 exon3 c.C209T p.A70V exonic ENSG00000111679.17 . nonsynonymous SNV ENSG00000111679.17:ENST00000318974.14:exon3:c.C209T:p.A70V 12p13.31 C3L-01453 . . . . . . . . . 18.20 D D D P D D M D D 0.758 D D D 0.860 0.647 0.867 1.373 T D D D D D 3.550 24.900 0.997 D D 0.567 5.599 0.479 4.974 1.000 0.718 0.522 0.571 0.550 . 4.720 4.720 7.905 1.026 0.599 1.000 0.056 0.111 620 SH2_domain . . . PTPN6 256 1 357 52 0.127139364303178 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01453 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 339 0 505 74 0.127806563039724 TRUE TRUE ENSG00000171262.11 . BCM GRCh38.p13 chr15 38484295 38484295 + A A C Missense_Mutation SNP ENST00000397609.6 exon8 c.A938C p.N313T exonic ENSG00000171262.11 . nonsynonymous SNV ENSG00000171262.11:ENST00000397609.6:exon8:c.A938C:p.N313T 15q14 C3L-01453 . . . . . . . . . 3.16 T T . . N N . T N 0.110 T T D 0.232 0.526 0.493 0.127 T . T T T D 1.979 19.100 0.978 D N -0.416 1.348 -0.273 1.620 0.778 0.707 0.644 0.725 0.567 . 3.770 2.530 0.525 1.210 0.750 0.988 0.992 0.996 892 . . . . FAM98B 298 0 505 67 0.117132867132867 TRUE TRUE ENSG00000137767.14 . BCM GRCh38.p13 chr15 45682497 45682497 + C C G Missense_Mutation SNP ENST00000260324.12 exon7 c.C884G p.T295R exonic ENSG00000137767.14 . nonsynonymous SNV ENSG00000137767.14:ENST00000260324.12:exon7:c.C884G:p.T295R 15q21.1 C3L-01453 . . . . . . . . . 15.19 D D D D D D . T D 0.974 T T D 0.678 0.655 0.772 0.408 T D D D D D 3.678 25.300 0.995 D D 1.001 13.950 0.942 15.663 1.000 0.707 0.725 0.547 0.714 . 5.600 5.600 7.840 1.026 0.599 1.000 0.995 0.987 337 . . . . SQOR 176 0 264 47 0.15112540192926 TRUE TRUE ENSG00000177238.14 . BCM GRCh38.p13 chr16 31224318 31224318 + G G A Missense_Mutation SNP ENST00000322122.8 exon7 c.G997A p.A333T exonic ENSG00000177238.14 . nonsynonymous SNV ENSG00000177238.14:ENST00000322122.8:exon7:c.G997A:p.A333T 16p11.2 C3L-01453 . . . . . . . . . 7.20 D D D P N D L T N 0.255 T T D 0.071 0.514 0.469 . D T T T D T 3.468 24.600 0.999 N N 0.212 3.358 0.201 3.189 0.843 0.516 0.610 0.576 0.563 . 5.440 5.440 0.565 1.172 0.618 0.001 0.976 0.991 189 0.000 . . . TRIM72 102 0 245 28 0.102564102564103 TRUE TRUE ENSG00000154118.13 . BCM GRCh38.p13 chr16 87644470 87644470 + G G A Missense_Mutation SNP ENST00000284262.3 exon2 c.G595A p.V199M exonic ENSG00000154118.13 . nonsynonymous SNV ENSG00000154118.13:ENST00000284262.3:exon2:c.G595A:p.V199M 16q24.2 C3L-01453 0.0025 0.0291 0.0010 0.0001 0 3.138e-05 0 0.0001 rs9934067 3.19 T T B B D N N T N 0.160 T T . 0.057 . 0.110 0.134 T T T T T D 2.346 21.800 0.988 D N -0.542 1.095 -0.334 1.497 0.999 0.718 0.547 0.571 0.568 . 5.030 3.030 3.657 1.146 -0.148 1.000 1.000 0.991 952 . . . . JPH3 358 0 728 118 0.139479905437352 TRUE NA 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 C3L-01453 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 605 0 800 146 0.154334038054968 TRUE TRUE ENSG00000017797.13 . BCM GRCh38.p13 chr18 9535734 9535734 + G G A Missense_Mutation SNP ENST00000383432.8 exon10 c.G1765A p.V589M exonic ENSG00000017797.13 . nonsynonymous SNV ENSG00000017797.13:ENST00000383432.8:exon10:c.G1765A:p.V589M 18p11.22 C3L-01453 3.921e-05 0 0 0 0 3.559e-05 0 0.0001 rs780605304 9.20 D D P B D D N T N 0.689 T T T 0.214 . 0.287 0.852 D D T T T D 2.854 23.100 0.997 D D 0.395 4.314 0.423 4.525 1.000 0.732 0.725 0.744 0.714 . 5.010 4.130 9.273 1.100 0.592 1.000 0.873 0.073 627 . . . . RALBP1 215 0 420 58 0.121338912133891 TRUE NA ENSG00000141867.17 . BCM GRCh38.p13 chr19 15238385 15238385 + G G A Missense_Mutation SNP ENST00000263377.6 exon20 c.C4081T p.L1361F exonic ENSG00000141867.17 . nonsynonymous SNV ENSG00000141867.17:ENST00000263377.6:exon20:c.C4081T:p.L1361F 19p13.12 C3L-01453 . . . . . . . . . 8.20 T D D P N D L T N 0.565 T T D 0.125 0.246 0.721 1.753 T T D T D D 3.160 23.800 0.972 D N 0.488 4.944 0.494 5.101 1.000 0.672 0.702 0.702 0.711 . 4.950 4.950 4.087 1.176 0.674 1.000 1.000 1.000 867 Bromodomain_protein_4,_C-terminal . . ID=COSV99650932;OCCURENCE=3(skin) BRD4 186 0 256 21 0.075812274368231 TRUE TRUE ENSG00000186115.13 . BCM GRCh38.p13 chr19 15878926 15878926 + C C T Missense_Mutation SNP ENST00000221700.11 exon13 c.G1408A p.G470R exonic ENSG00000186115.13 . nonsynonymous SNV ENSG00000186115.13:ENST00000221700.11:exon13:c.G1408A:p.G470R 19p13.12 C3L-01453 7.495e-05 0 0 0 0 0 0 0.0006 rs146148233 18.20 D D D D U D H D D 0.704 D D D 0.757 0.987 0.974 0.730 T D D D D D 3.379 24.300 0.995 D D 0.420 4.469 0.150 2.948 0.000 0.554 0.588 0.574 0.564 . 2.620 1.550 5.285 0.910 0.501 1.000 0.044 0.027 976 Cytochrome_P450,_conserved_site . . ID=COSV55616274;OCCURENCE=1(biliary_tract),3(stomach),1(endometrium) CYP4F2 116 0 273 54 0.165137614678899 NA TRUE ENSG00000214046.8 . BCM GRCh38.p13 chr19 16659980 16659980 + C C T Missense_Mutation SNP ENST00000487416.6 exon2 c.G47A p.G16E exonic ENSG00000214046.8;ENSG00000268790.5 . nonsynonymous SNV ENSG00000214046.8:ENST00000487416.6:exon2:c.G47A:p.G16E,ENSG00000268790.5:ENST00000593991.5:exon2:c.G41A:p.G14E 19p13.11 C3L-01453 . . . . . . . . rs956924929 13.18 D D D P U D . . D 0.947 T T D 0.746 0.498 0.304 0.161 D T D D D D 4.059 27.400 0.996 D D 0.564 5.575 0.571 5.873 1.000 0.442 0.522 0.522 0.562 . 4.850 4.850 4.461 0.947 0.599 0.999 0.781 0.939 759 . . . . SMIM7 361 0 701 84 0.107006369426752 TRUE NA ENSG00000100991.12 . BCM GRCh38.p13 chr20 35004547 35004547 + G G T Missense_Mutation SNP ENST00000252015.3 exon17 c.C1960A p.R654S exonic ENSG00000100991.12 . nonsynonymous SNV ENSG00000100991.12:ENST00000252015.3:exon17:c.C1960A:p.R654S 20q11.22 C3L-01453 . . . . . . . . . 7.19 D T P P D D L . N 0.821 T T T 0.132 0.401 0.068 0.406 T T T T D D 3.421 24.500 0.995 D D 0.333 3.952 0.298 3.704 0.996 0.707 0.702 0.702 0.714 . 4.600 3.570 5.763 1.176 0.671 1.000 0.997 0.807 609 . . . . TRPC4AP 231 0 380 76 0.166666666666667 TRUE TRUE ENSG00000125975.14 . BCM GRCh38.p13 chr20 35528812 35528812 + G G A Missense_Mutation SNP ENST00000246199.5 exon2 c.C218T p.S73L exonic ENSG00000125975.14 . nonsynonymous SNV ENSG00000125975.14:ENST00000246199.5:exon2:c.C218T:p.S73L 20q11.22 C3L-01453 . . . . . . . . rs1050191157 1.18 T T B B N N . T D 0.176 T T T 0.032 0.379 0.040 . . T T T T T 0.249 3.693 0.608 N N -1.603 0.054 -1.717 0.048 0.592 0.487 0.574 0.547 0.564 . 4.070 -7.570 -0.164 -0.975 -1.503 0.000 0.000 0.000 491 . . . . C20orf173 109 0 152 23 0.131428571428571 TRUE NA ENSG00000171587.15 . BCM GRCh38.p13 chr21 40013351 40013351 + C C A Missense_Mutation SNP ENST00000400454.6 exon33 c.G5722T p.D1908Y exonic ENSG00000171587.15 . nonsynonymous SNV ENSG00000171587.15:ENST00000400454.6:exon33:c.G5722T:p.D1908Y 21q22.2 C3L-01453 . . . . . . . . . 14.20 D D D D D D L T N 0.867 T T D 0.471 0.492 0.938 1.543 D T D D D D 4.033 27.200 0.996 D D 0.667 6.685 0.698 7.718 1.000 0.487 0.574 0.574 0.564 . 5.390 5.390 7.370 0.966 0.530 1.000 1.000 0.999 968 . . . . DSCAM 69 0 113 14 0.110236220472441 TRUE TRUE ENSG00000133454.16 . BCM GRCh38.p13 chr22 25955334 25955334 + G G C Missense_Mutation SNP ENST00000335473.12 exon39 c.G6126C p.E2042D exonic ENSG00000133454.16 . nonsynonymous SNV ENSG00000133454.16:ENST00000335473.12:exon39:c.G6126C:p.E2042D 22q12.1 C3L-01453 . . . . . . . . . 12.20 D D P P D D M D D 0.562 T T D 0.441 0.114 0.898 0.329 T T T T D D 2.966 23.300 0.998 D D 0.262 3.587 0.282 3.611 1.000 0.554 0.588 0.602 0.564 . 4.960 3.930 2.048 1.152 0.650 0.992 0.870 0.921 934 . . . ID=COSV59129833;OCCURENCE=1(oesophagus) MYO18B 106 0 193 54 0.218623481781377 TRUE TRUE ENSG00000090539.15 . BCM GRCh38.p13 chr3 184388996 184388996 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000090539.15 ENST00000204604.5:exon22:c.2812+1G>A . . 3q27.1 C3L-01453 4.444e-05 0.0001 0 0.0002 0 3.194e-05 0 0 rs767747110 2.4 . . . . . D . . . . . . . . . . . . . T T . . 4.753 32 0.919 D . 0.600 5.921 0.363 4.104 0.723 0.056 0.060 0.072 0.075 0.364 4.930 4.050 3.881 1.175 0.676 1.000 0.740 0.124 911 . . . ID=COSV52609935;OCCURENCE=1(stomach),1(haematopoietic_and_lymphoid_tissue) CHRD 92 0 187 30 0.138248847926267 TRUE TRUE ENSG00000117385.16 . BCM GRCh38.p13 chr1 42766792 42766792 + C C T Silent SNP ENST00000296388.10 exon1 c.G180A p.R60R exonic ENSG00000117385.16 . synonymous SNV ENSG00000117385.16:ENST00000296388.10:exon1:c.G180A:p.R60R 1p34.2 C3L-01453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P3H1 292 0 444 58 0.115537848605578 TRUE TRUE ENSG00000115207.13 . BCM GRCh38.p13 chr2 27336404 27336404 + A A G Silent SNP ENST00000359541.6 exon8 c.T1149C p.H383H exonic ENSG00000115207.13 . synonymous SNV ENSG00000115207.13:ENST00000359541.6:exon8:c.T1149C:p.H383H 2p23.3 C3L-01453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTF3C2 145 0 264 45 0.145631067961165 TRUE TRUE ENSG00000114270.17 . BCM GRCh38.p13 chr3 48570942 48570942 + G G A Silent SNP ENST00000328333.12 exon94 c.C7191T p.P2397P exonic ENSG00000114270.17 . synonymous SNV ENSG00000114270.17:ENST00000328333.12:exon94:c.C7191T:p.P2397P 3p21.31 C3L-01453 0.0002 0 0.0002 0 0 0.0003 0 0 rs34360255 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL7A1 327 0 524 93 0.150729335494327 TRUE NA ENSG00000175426.11 . BCM GRCh38.p13 chr5 96423385 96423385 + C C T Silent SNP ENST00000311106.8 exon4 c.G471A p.T157T exonic ENSG00000175426.11 . synonymous SNV ENSG00000175426.11:ENST00000311106.8:exon4:c.G471A:p.T157T 5q15 C3L-01453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCSK1 681 0 1036 154 0.129411764705882 TRUE NA ENSG00000019991.18 . BCM GRCh38.p13 chr7 81707328 81707328 + C C T Silent SNP ENST00000222390.11 exon14 c.G1578A p.E526E exonic ENSG00000019991.18 . synonymous SNV ENSG00000019991.18:ENST00000222390.11:exon14:c.G1578A:p.E526E 7q21.11 C3L-01453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HGF 336 0 460 79 0.146567717996289 TRUE TRUE ENSG00000161996.19 . BCM GRCh38.p13 chr16 656737 656737 + C C T Silent SNP ENST00000293879.9 exon19 c.C2208T p.Y736Y exonic ENSG00000161996.19 . synonymous SNV ENSG00000161996.19:ENST00000293879.9:exon19:c.C2208T:p.Y736Y 16p13.3 C3L-01453 8.465e-06 0.0001 0 0 0 0 0 0 rs372511115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR90 98 0 148 26 0.149425287356322 TRUE NA ENSG00000103091.15 . BCM GRCh38.p13 chr16 74915915 74915915 + C C T Silent SNP ENST00000262144.11 exon13 c.G1179A p.Q393Q exonic ENSG00000103091.15 . synonymous SNV ENSG00000103091.15:ENST00000262144.11:exon13:c.G1179A:p.Q393Q 16q23.1 C3L-01453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR59 306 0 467 65 0.12218045112782 TRUE TRUE ENSG00000141526.16 . BCM GRCh38.p13 chr17 82237334 82237334 + C C T Silent SNP ENST00000581287.5 exon3 c.C564T p.L188L exonic ENSG00000141526.16 . synonymous SNV ENSG00000141526.16:ENST00000581287.5:exon3:c.C564T:p.L188L 17q25.3 C3L-01453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66429952;OCCURENCE=1(biliary_tract) SLC16A3 48 0 143 17 0.10625 TRUE TRUE ENSG00000065717.15 . BCM GRCh38.p13 chr19 3019329 3019329 + C C T Silent SNP ENST00000262953.11 exon7 c.G504A p.A168A exonic ENSG00000065717.15 . synonymous SNV ENSG00000065717.15:ENST00000262953.11:exon7:c.G504A:p.A168A 19p13.3 C3L-01453 9.75e-05 0 0 0 0 0 0 0.0004 rs781758361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLE2 226 0 582 56 0.0877742946708464 TRUE NA ENSG00000011590.14 . BCM GRCh38.p13 chr19 35714728 35714728 + C C T Silent SNP ENST00000392197.7 exon3 c.C102T p.T34T exonic ENSG00000011590.14 . synonymous SNV ENSG00000011590.14:ENST00000392197.7:exon3:c.C102T:p.T34T 19q13.12 C3L-01453 . . . . . . . . rs267605432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBTB32 125 0 327 38 0.104109589041096 TRUE NA ENSG00000069020.18 . BCM GRCh38.p13 chr5 66828847 66828847 + G G A Intron SNP NA NA NA NA intronic ENSG00000069020.18 . . . 5q12.3 C3L-01453 . . . . . . . . rs914001649 8.16 T D D D . D . T N 0.614 T T D 0.196 0.248 0.800 . . . T T D T 2.243 21.200 0.997 D D 0.684 6.902 0.720 8.143 1.000 0.598 0.596 0.159 0.562 . 5.260 5.260 8.135 1.176 0.618 1.000 1.000 0.999 876 . . . . MAST4 224 0 374 41 0.0987951807228916 TRUE NA ENSG00000103507.14 . BCM GRCh38.p13 chr16 31112403 31112403 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000103507.14 ENST00000219794.11:c.*138T>C . . 16p11.2 C3L-01453 . . . . . . . . rs553418699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCKDK 163 0 279 42 0.130841121495327 TRUE NA ENSG00000196581.11 . BCM GRCh38.p13 chr1 4772524 4772524 + C C T Nonsense_Mutation SNP ENST00000378191.5 exon4 c.C1162T p.R388X exonic ENSG00000196581.11 . stopgain ENSG00000196581.11:ENST00000378191.5:exon4:c.C1162T:p.R388X 1p36.32 C3L-03635 . . . . . . . . . 6.6 . . . . D A . . . 0.829 . . . . . . . . . D D . . 8.417 43 0.996 D D 0.499 5.030 0.303 3.736 0.319 0.701 0.574 0.717 0.564 . 5.120 1.660 2.726 1.026 0.599 1.000 0.959 0.683 988 AJAP1/PANP,_C-terminal . . ID=COSV65452928;OCCURENCE=1(ovary),1(thyroid) AJAP1 134 1 189 14 0.0689655172413793 TRUE TRUE ENSG00000000971.16 . BCM GRCh38.p13 chr1 196747129 196747129 + G G A Missense_Mutation SNP ENST00000367429.9 exon22 c.G3512A p.R1171Q exonic ENSG00000000971.16 . nonsynonymous SNV ENSG00000000971.16:ENST00000367429.9:exon22:c.G3512A:p.R1171Q 1q31.3 C3L-03635 . . . . . . . . . 4.15 D D . . . N . D N 0.044 T T D 0.173 0.617 0.442 1.467 T . T T T T 0.240 3.589 0.844 N N -1.666 0.042 -1.538 0.094 0.000 0.693 0.588 0.545 0.564 . 4.480 0.821 0.382 -0.975 -1.758 0.035 0.000 0.001 534 . . . ID=COSV66406620;OCCURENCE=1(NS),1(skin) CFH 296 1 384 39 0.0921985815602837 NA TRUE ENSG00000218819.6 . BCM GRCh38.p13 chr2 21141270 21141270 + A A G Missense_Mutation SNP ENST00000405799.3 exon4 c.A3803G p.N1268S exonic ENSG00000218819.6 . nonsynonymous SNV ENSG00000218819.6:ENST00000405799.3:exon4:c.A3803G:p.N1268S 2p24.1 C3L-03635 . . . . . . . . . 0.14 T T . . . . . T N 0.044 T T T 0.016 0.185 0.088 . . T T T T T -0.018 1.225 0.317 N N -0.834 0.607 -0.934 0.575 0.000 0.487 0.574 0.574 0.564 . 4.180 -0.913 1.123 0.300 -0.070 0.009 0.710 0.426 690 . . . . TDRD15 82 0 153 10 0.0613496932515337 TRUE TRUE ENSG00000115275.14 . BCM GRCh38.p13 chr2 74462786 74462786 + C C A Missense_Mutation SNP ENST00000448666.7 exon4 c.G1003T p.V335L exonic ENSG00000115275.14 . nonsynonymous SNV ENSG00000115275.14:ENST00000448666.7:exon4:c.G1003T:p.V335L 2p13.1 C3L-03635 . . . . . . . . . 4.20 T T B B D D N T N 0.083 T T T 0.063 0.567 0.349 0.242 T T T T T D 1.373 14.900 0.961 D N -0.486 1.205 -0.279 1.607 1.000 0.672 0.698 0.702 0.711 . 4.730 3.850 1.034 0.103 0.599 0.982 0.994 0.926 506 . . . . MOGS 655 0 1043 71 0.0637342908438061 NA TRUE ENSG00000072163.19 . BCM GRCh38.p13 chr2 127654537 127654537 + G G T Missense_Mutation SNP ENST00000355119.8 exon4 c.C246A p.F82L exonic ENSG00000072163.19 . nonsynonymous SNV ENSG00000072163.19:ENST00000355119.8:exon4:c.C246A:p.F82L 2q14.3 C3L-03635 . . . . . . . . . 15.20 D D B B D D L D D 0.843 T T D 0.573 0.512 0.777 0.226 D D D D D D 2.784 23.000 0.995 D D -0.242 1.763 -0.115 2.006 1.000 0.707 0.590 0.616 0.714 . 5.370 3.490 4.623 -0.102 0.676 1.000 0.828 0.648 946 Zinc_finger,_LIM-type . . . LIMS2 182 0 372 44 0.105769230769231 TRUE TRUE ENSG00000172318.5 . BCM GRCh38.p13 chr2 167869714 167869714 + T T G Missense_Mutation SNP ENST00000392690.3 exon1 c.T675G p.D225E exonic ENSG00000172318.5 . nonsynonymous SNV ENSG00000172318.5:ENST00000392690.3:exon1:c.T675G:p.D225E 2q24.3 C3L-03635 . . . . . . . . . 4.20 T T B B D D N T N 0.274 T T T 0.087 0.413 0.432 0.443 T T T T T D 1.588 16.300 0.791 D N -0.507 1.163 -0.198 1.791 0.853 0.732 0.574 0.744 0.564 . 6.020 4.850 1.903 1.138 0.665 1.000 1.000 1.000 753 . . . . B3GALT1 82 0 158 38 0.193877551020408 TRUE TRUE ENSG00000118997.14 . BCM GRCh38.p13 chr2 195808819 195808819 + A A C Missense_Mutation SNP ENST00000312428.11 exon53 c.T9946G p.Y3316D exonic ENSG00000118997.14 . nonsynonymous SNV ENSG00000118997.14:ENST00000312428.11:exon53:c.T9946G:p.Y3316D 2q32.3 C3L-03635 . . . . . . . . . 2.19 T . B B N N L D N 0.265 T T T 0.193 0.475 0.118 0.042 T T T T T D 0.532 6.840 0.930 N N -1.089 0.316 -1.077 0.400 0.034 0.500 0.574 0.492 0.504 . 5.060 -4.470 -0.687 -1.000 -0.870 0.000 0.782 0.958 900 . . . . DNAH7 244 0 351 28 0.0738786279683377 TRUE TRUE ENSG00000183662.11 . BCM GRCh38.p13 chr3 68006643 68006643 + C C T Missense_Mutation SNP ENST00000478136.6 exon2 c.C17T p.A6V exonic ENSG00000183662.11 . nonsynonymous SNV ENSG00000183662.11:ENST00000478136.6:exon2:c.C17T:p.A6V 3p14.1 C3L-03635 . . . . . . . . . 4.19 T T P B N D N . N 0.603 T T T 0.186 0.243 0.151 0.506 T T T T D T 2.616 22.700 0.991 D D 0.079 2.806 0.310 3.774 1.000 0.487 0.574 0.563 0.564 . 6.170 6.170 6.472 1.026 0.599 1.000 1.000 0.996 960 . . . . TAFA1 181 0 356 34 0.0871794871794872 TRUE TRUE ENSG00000174953.14 . BCM GRCh38.p13 chr3 154303399 154303399 + T T C Missense_Mutation SNP ENST00000496811.6 exon9 c.A1147G p.M383V exonic ENSG00000174953.14 . nonsynonymous SNV ENSG00000174953.14:ENST00000496811.6:exon9:c.A1147G:p.M383V 3q25.2 C3L-03635 5.802e-05 0 0 0 0 0.0001 0 0 rs754937391 4.20 T T B B D D N T N 0.692 T T T 0.240 . 0.590 0.301 T T T T T T 2.380 22.000 0.936 D D -0.183 1.924 0.084 2.669 1.000 0.732 0.744 0.725 0.728 . 5.530 5.530 7.208 1.138 0.665 1.000 1.000 0.999 875 Helicase_superfamily_1/2,_ATP-binding_domain . . ID=COSV57674533;OCCURENCE=1(pancreas) DHX36 63 0 133 11 0.0763888888888889 TRUE TRUE ENSG00000174776.11 . BCM GRCh38.p13 chr3 167531207 167531207 + G G A Missense_Mutation SNP ENST00000308378.7 exon9 c.C1070T p.T357M exonic ENSG00000174776.11 . nonsynonymous SNV ENSG00000174776.11:ENST00000308378.7:exon9:c.C1070T:p.T357M 3q26.1 C3L-03635 0.0001 0.0009 0 0.0001 0 7.51e-05 0.0011 0 rs151083851 0.20 T T B B N N L T N 0.155 T T T 0.022 . 0.259 0.030 T T T T T T -0.562 0.088 0.719 N N -1.598 0.055 -1.665 0.059 0.001 0.487 0.574 0.574 0.564 . 5.360 -5.110 -0.065 -1.022 -1.238 0.000 0.000 0.000 881 WD40-repeat-containing_domain . . ID=COSV57710516;OCCURENCE=1(oesophagus) WDR49 298 1 497 87 0.148972602739726 NA TRUE ENSG00000152969.20 . BCM GRCh38.p13 chr4 6062329 6062329 + C C T Missense_Mutation SNP ENST00000282924.9 exon10 c.G1543A p.A515T exonic ENSG00000152969.20 . nonsynonymous SNV ENSG00000152969.20:ENST00000282924.9:exon10:c.G1543A:p.A515T 4p16.1 C3L-03635 . . . . . . . . rs1023704574 15.20 D D D D D D M T D 0.853 T T T 0.251 0.106 0.590 1.576 D T D D D D 3.626 25.100 0.999 D D 0.451 4.677 0.322 3.850 1.000 0.615 0.654 0.659 0.564 . 4.850 4.850 5.684 1.026 0.599 1.000 0.031 0.019 988 Janus_kinase_and_microtubule-interacting_protein,_C-terminal_domain . . ID=COSV51534944;OCCURENCE=1(large_intestine) JAKMIP1 539 0 877 61 0.0650319829424307 TRUE TRUE ENSG00000182308.7 . BCM GRCh38.p13 chr4 41982163 41982163 + A A G Missense_Mutation SNP ENST00000333141.7 exon1 c.A371G p.N124S exonic ENSG00000182308.7 . nonsynonymous SNV ENSG00000182308.7:ENST00000333141.7:exon1:c.A371G:p.N124S 4p13 C3L-03635 . . . . . . . . . 9.20 D D D P D D L T D 0.380 T T T 0.310 0.648 0.255 0.832 T T T T D D 1.677 16.880 0.965 D N 0.122 2.975 -0.061 2.163 0.981 0.487 0.574 0.547 0.542 . 0.688 0.688 3.589 0.484 0.407 1.000 0.218 0.625 599 . . . . DCAF4L1 146 0 311 30 0.0879765395894428 TRUE TRUE ENSG00000196159.12 . BCM GRCh38.p13 chr4 125468791 125468791 + A A C Missense_Mutation SNP ENST00000674496.1 exon11 c.A12179C p.H4060P exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon11:c.A12179C:p.H4060P 4q28.1 C3L-03635 . . . . . . . . . 18.20 D D D D U D H D D 0.991 D D D 0.942 0.746 0.905 0.237 T D D D D D 4.004 27.000 0.982 D D 0.884 10.651 0.821 10.760 1.000 0.707 0.574 0.653 0.714 . 5.310 5.310 9.133 1.308 0.684 1.000 0.999 0.973 923 Laminin_G_domain . . . FAT4 133 0 154 15 0.0887573964497041 TRUE TRUE ENSG00000112902.12 . BCM GRCh38.p13 chr5 9119008 9119008 + G G A Missense_Mutation SNP ENST00000382496.10 exon15 c.C1915T p.R639C exonic ENSG00000112902.12 . nonsynonymous SNV ENSG00000112902.12:ENST00000382496.10:exon15:c.C1915T:p.R639C 5p15.31 C3L-03635 . . . . . . . . . 15.20 D D D D D D L T D 0.846 T T D 0.597 0.700 0.774 1.247 D T D D D D 4.383 31 0.999 D D 0.644 6.399 0.579 5.976 1.000 0.539 0.588 0.607 0.564 . 5.430 4.540 3.128 0.161 0.676 1.000 0.996 0.993 925 . . . ID=COSV101228520;OCCURENCE=1(central_nervous_system),1(endometrium) SEMA5A 166 0 297 26 0.0804953560371517 TRUE TRUE ENSG00000113100.10 . BCM GRCh38.p13 chr5 26988188 26988188 + C C T Missense_Mutation SNP ENST00000231021.9 exon2 c.G146A p.R49H exonic ENSG00000113100.10 . nonsynonymous SNV ENSG00000113100.10:ENST00000231021.9:exon2:c.G146A:p.R49H 5p14.1 C3L-03635 . . . . . . . . . 0.20 T T B B N N N T N 0.081 T T T 0.106 0.479 0.283 0.524 T T T T T T 1.161 13.320 0.360 N N -0.904 0.515 -0.793 0.767 0.000 0.554 0.574 0.618 0.564 . 5.640 -1.850 0.194 -0.669 0.549 0.975 0.905 0.996 891 . . . ID=COSV50289480;OCCURENCE=1(large_intestine) CDH9 399 0 602 32 0.0504731861198738 TRUE NA ENSG00000113209.9 . BCM GRCh38.p13 chr5 141136566 141136566 + G G A Missense_Mutation SNP ENST00000231134.8 exon1 c.G1132A p.G378S exonic ENSG00000113209.9 . nonsynonymous SNV ENSG00000113209.9:ENST00000231134.8:exon1:c.G1132A:p.G378S 5q31.3 C3L-03635 8.238e-06 0 0 0 0 1.498e-05 0 0 rs782760735 7.14 D D . . . N . T D 0.654 D T D 0.246 0.672 0.643 0.665 T . T T D . 3.515 24.800 0.998 D N 0.604 5.969 0.464 4.847 0.954 0.660 0.547 0.663 0.621 . 4.950 4.950 2.889 1.101 0.590 1.000 0.842 0.604 549 . . . ID=COSV50678024;OCCURENCE=1(large_intestine),1(skin) PCDHB5 237 0 336 33 0.0894308943089431 TRUE TRUE ENSG00000151914.20 . BCM GRCh38.p13 chr6 56597910 56597910 + T T C Missense_Mutation SNP ENST00000361203.7 exon43 c.A11392G p.T3798A exonic ENSG00000151914.20 . nonsynonymous SNV ENSG00000151914.20:ENST00000361203.7:exon43:c.A11392G:p.T3798A 6p12.1 C3L-03635 . . . . . . . . . 0.17 T . B B N . . T N 0.167 T T T 0.052 . 0.569 0.116 T T T T T T -0.069 0.962 0.558 N N -1.141 0.271 -1.134 0.342 0.776 0.707 0.725 0.725 0.714 . 5.770 -1.140 0.266 1.118 0.665 0.000 0.271 0.217 247 . . . . DST 182 0 283 20 0.066006600660066 TRUE TRUE ENSG00000079841.18 . BCM GRCh38.p13 chr6 72274420 72274420 + C C T Missense_Mutation SNP ENST00000521978.5 exon23 c.C3470T p.P1157L exonic ENSG00000079841.18 . nonsynonymous SNV ENSG00000079841.18:ENST00000521978.5:exon23:c.C3470T:p.P1157L 6q13 C3L-03635 0.0214 0.0067 0.0163 0.0001 0.0075 0.0321 0.0161 0.0069 rs41265501 11.19 D D D D D D M T D 0.670 T T . 0.247 . . 0.635 T T T T T D 3.466 24.600 0.996 D D 0.538 5.345 0.605 6.293 1.000 0.500 0.624 0.574 0.613 . 5.560 5.560 6.947 1.026 0.599 1.000 0.998 0.988 901 . . . ID=COSV53450187;OCCURENCE=1(skin) RIMS1 115 0 301 31 0.0933734939759036 TRUE TRUE ENSG00000146530.14 . BCM GRCh38.p13 chr7 12337000 12337000 + G G A Nonsense_Mutation SNP ENST00000275358.8 exon26 c.C4546T p.R1516X exonic ENSG00000146530.14 . stopgain ENSG00000146530.14:ENST00000275358.8:exon26:c.C4546T:p.R1516X 7p21.3 C3L-03635 . . . . . . . . rs113354784 3.6 . . . . N A . . . 0.194 . . . . . . . . . D D . . 8.516 43 0.991 N N -0.095 2.191 -0.422 1.334 0.927 0.722 0.574 0.699 0.621 . 4.630 -0.844 0.428 0.131 -0.154 0.001 0.581 0.751 853 EGF-like_domain . . . VWDE 78 1 170 52 0.234234234234234 TRUE NA ENSG00000184408.10 . BCM GRCh38.p13 chr7 120275485 120275485 + G G A Missense_Mutation SNP ENST00000331113.9 exon1 c.G853A p.V285I exonic ENSG00000184408.10 . nonsynonymous SNV ENSG00000184408.10:ENST00000331113.9:exon1:c.G853A:p.V285I 7q31.31 C3L-03635 . . . . . . . . . 12.20 T T P B D D L D N 0.298 D D D 0.533 0.613 0.758 2.237 T T D D D D 2.740 22.900 0.995 D D 0.358 4.094 0.452 4.749 1.000 0.660 0.663 0.663 0.542 . 5.180 5.180 10.003 1.172 0.672 1.000 0.993 0.978 672 Ion_transport_domain . . ID=COSV58580353;OCCURENCE=3(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(pancreas) KCND2 117 0 174 10 0.0543478260869565 TRUE TRUE ENSG00000213203.3 . BCM GRCh38.p13 chr7 150720902 150720902 + G G A Missense_Mutation SNP ENST00000307194.6 exon3 c.G898A p.V300I exonic ENSG00000213203.3 . nonsynonymous SNV ENSG00000213203.3:ENST00000307194.6:exon3:c.G898A:p.V300I 7q36.1 C3L-03635 0 0 0 0 0 0 0 0 rs752300708 0.19 T T B B U N N T N 0.075 T T T 0.022 0.138 0.134 0.552 . T T T T T -1.528 0.001 0.703 N N -2.142 0.004 -2.268 0.003 1.000 0.707 0.634 0.590 0.714 . 3.390 -6.780 -1.630 -1.806 -1.478 0.000 0.000 0.000 774 . . . ID=COSV56188181;OCCURENCE=1(large_intestine) GIMAP1 122 0 188 15 0.0738916256157636 TRUE TRUE ENSG00000182674.6 . BCM GRCh38.p13 chr8 72937223 72937223 + C C T Missense_Mutation SNP ENST00000523207.2 exon3 c.C1868T p.P623L exonic ENSG00000182674.6 . nonsynonymous SNV ENSG00000182674.6:ENST00000523207.2:exon3:c.C1868T:p.P623L 8q21.11 C3L-03635 . . . . . . . . rs370327292 3.20 D T B B N D L T N 0.125 T T T 0.056 . 0.357 0.610 T T T T T T 1.278 14.230 0.953 D N -0.203 1.869 -0.094 2.065 0.568 0.487 0.547 0.547 0.564 . 5.040 5.040 2.064 1.026 0.549 0.137 0.060 0.018 848 . . . ID=COSV101578828;OCCURENCE=1(stomach) KCNB2 289 0 627 56 0.08199121522694 TRUE TRUE ENSG00000104447.12 . BCM GRCh38.p13 chr8 115414023 115414023 + T T G Nonstop_Mutation SNP ENST00000640765.1 exon6 c.A3846C p.X1282Y exonic ENSG00000104447.12 . stoploss ENSG00000104447.12:ENST00000640765.1:exon6:c.A3846C:p.X1282Y 8q23.3 C3L-03635 . . . . . . . . . 1.4 . . . . . N . . . 0.589 . . . . . . . . . T T . . 1.499 15.730 0.836 D . 1.010 14.236 0.857 12.020 1.000 0.201 0.097 0.060 0.402 0.947 5.430 5.430 3.122 1.138 0.665 1.000 1.000 1.000 935 . . . . TRPS1 118 0 205 17 0.0765765765765766 TRUE TRUE ENSG00000160886.13 . BCM GRCh38.p13 chr8 142701639 142701639 + G G A Missense_Mutation SNP ENST00000292430.10 exon2 c.G143A p.R48K exonic ENSG00000160886.13 . nonsynonymous SNV ENSG00000160886.13:ENST00000292430.10:exon2:c.G143A:p.R48K 8q24.3 C3L-03635 . . . . . . . . . 1.20 D T B B N N N T N 0.138 T T T 0.003 0.302 0.014 0.078 T T T T T T -1.348 0.001 0.835 N N -1.801 0.023 -1.900 0.022 1.000 0.706 0.660 0.576 0.613 . 2.060 -4.110 -3.938 -0.825 -0.980 0.000 0.048 0.021 988 . . . ID=COSV99456086;OCCURENCE=1(skin) LY6K 214 0 395 111 0.219367588932806 TRUE TRUE ENSG00000148541.13 . BCM GRCh38.p13 chr10 59262534 59262534 + G G A Missense_Mutation SNP ENST00000618804.5 exon10 c.C1136T p.A379V exonic ENSG00000148541.13 . nonsynonymous SNV ENSG00000148541.13:ENST00000618804.5:exon10:c.C1136T:p.A379V 10q21.1 C3L-03635 7.427e-05 0 0 0 0 0.0001 0 6.057e-05 rs200879419 2.20 T T B B N D N T N 0.123 T T T 0.185 . 0.639 . T T T T T T 0.878 10.210 0.207 D N -0.935 0.477 -0.745 0.835 0.330 0.554 0.588 0.574 0.564 . 5.930 1.790 1.391 -0.485 -0.105 0.967 0.026 0.103 982 . . . ID=COSV99514923;OCCURENCE=1(stomach) FAM13C 436 1 748 60 0.0742574257425743 TRUE NA ENSG00000171219.9 . BCM GRCh38.p13 chr11 64834878 64834878 + C C T Missense_Mutation SNP ENST00000342711.6 exon18 c.G2146A p.G716S exonic ENSG00000171219.9 . nonsynonymous SNV ENSG00000171219.9:ENST00000342711.6:exon18:c.G2146A:p.G716S 11q13.1 C3L-03635 . . . . . . . . . 7.20 T T D D D D M T N 0.632 T T T 0.160 0.224 0.498 0.870 T T T T D T 3.132 23.700 0.998 D N 0.357 4.089 0.383 4.238 1.000 0.696 0.588 0.723 0.568 . 5.070 5.070 0.367 1.026 0.599 0.390 0.954 0.806 309 . . . . CDC42BPG 216 0 356 64 0.152380952380952 TRUE TRUE ENSG00000111241.2 . BCM GRCh38.p13 chr12 4434280 4434280 + G G A Missense_Mutation SNP ENST00000228837.2 exon3 c.C562T p.R188W exonic ENSG00000111241.2 . nonsynonymous SNV ENSG00000111241.2:ENST00000228837.2:exon3:c.C562T:p.R188W 12p13.32 C3L-03635 9.884e-05 9.61e-05 8.637e-05 0.0002 0.0002 8.99e-05 0 6.056e-05 rs142642694 15.20 D D D D D D M T D 0.867 T T D 0.571 . 0.752 0.834 T D T D D D 3.880 26.200 0.999 D D 0.653 6.514 0.556 5.708 1.000 0.487 0.574 0.547 0.564 . 5.130 4.230 3.458 1.176 0.676 1.000 0.998 0.955 870 . . . ID=COSV57403529;OCCURENCE=2(breast),1(large_intestine),1(central_nervous_system),1(endometrium) FGF6 288 0 504 134 0.210031347962382 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-03635 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 268 0 479 69 0.125912408759124 TRUE TRUE ENSG00000179104.9 . BCM GRCh38.p13 chr12 82985940 82985940 + G G A Missense_Mutation SNP ENST00000321196.8 exon8 c.G1964A p.R655H exonic ENSG00000179104.9 . nonsynonymous SNV ENSG00000179104.9:ENST00000321196.8:exon8:c.G1964A:p.R655H 12q21.31 C3L-03635 8.245e-05 0 0.0002 0.0005 0 6.001e-05 0 0 rs779280970 14.20 D D D D D D M T N 0.720 D D D 0.472 . 0.734 0.721 T T T D T D 4.118 27.900 0.999 D D 0.783 8.461 0.724 8.235 1.000 0.638 0.588 0.653 0.655 . 5.400 5.400 9.139 1.176 0.676 1.000 0.664 0.232 898 Tetratricopeptide_repeat-containing_domain . . . TMTC2 115 0 203 19 0.0855855855855856 TRUE NA ENSG00000185344.14 . BCM GRCh38.p13 chr12 123757971 123757971 + T T A Missense_Mutation SNP ENST00000330342.8 exon20 c.T2510A p.F837Y exonic ENSG00000185344.14 . nonsynonymous SNV ENSG00000185344.14:ENST00000330342.8:exon20:c.T2510A:p.F837Y 12q24.31 C3L-03635 . . . . . . . . . 16.19 D D D D D D . D N 0.795 D D D 0.792 0.716 0.760 0.622 T T D D D D 4.163 28.300 0.996 D D 0.805 8.883 0.795 9.970 1.000 0.732 0.710 0.725 0.728 . 5.710 5.710 8.017 1.131 0.661 1.000 1.000 0.999 342 . . . . ATP6V0A2 208 0 315 56 0.150943396226415 TRUE TRUE ENSG00000132970.14 . BCM GRCh38.p13 chr13 26642386 26642386 + G G A Missense_Mutation SNP ENST00000335327.6 exon3 c.G116A p.R39H exonic ENSG00000132970.14 . nonsynonymous SNV ENSG00000132970.14:ENST00000335327.6:exon3:c.G116A:p.R39H 13q12.13 C3L-03635 4.959e-05 0.0003 0.0003 0 0 0 0 0 rs774059020 15.20 D D D B D D M T D 0.926 D T D 0.559 . 0.454 1.187 D T T D D D 3.742 25.600 0.999 D D 0.789 8.559 0.770 9.300 1.000 0.706 0.574 0.710 0.714 . 5.550 4.690 7.602 1.176 0.676 1.000 0.999 0.986 915 . . . ID=COSV58963075;OCCURENCE=1(large_intestine) WASF3 79 0 185 26 0.123222748815166 TRUE TRUE ENSG00000102531.16 . BCM GRCh38.p13 chr13 49167258 49167258 + A A G Missense_Mutation SNP ENST00000492622.6 exon9 c.A992G p.N331S exonic ENSG00000102531.16 . nonsynonymous SNV ENSG00000102531.16:ENST00000492622.6:exon9:c.A992G:p.N331S 13q14.2 C3L-03635 . . . . . . . . . 0.20 T T B B N N N T N 0.106 T T T 0.075 0.319 0.252 0.170 T T T T T T 0.785 9.246 0.248 N N -1.097 0.309 -0.848 0.691 0.802 0.732 0.744 0.651 0.728 . 5.190 2.260 0.571 -0.615 -0.801 1.000 0.377 0.767 556 Fibronectin_type_III . . . FNDC3A 109 0 205 13 0.0596330275229358 TRUE TRUE ENSG00000100813.14 . BCM GRCh38.p13 chr14 23061571 23061571 + C C G Missense_Mutation SNP ENST00000262710.5 exon17 c.G3325C p.E1109Q exonic ENSG00000100813.14 . nonsynonymous SNV ENSG00000100813.14:ENST00000262710.5:exon17:c.G3325C:p.E1109Q 14q11.2 C3L-03635 . . . . . . . . . 6.20 D T B B D D L T N 0.368 T T T 0.041 0.155 0.355 1.105 T T T T D D 2.982 23.400 0.997 D N -0.073 2.263 0.100 2.736 1.000 0.722 0.702 0.702 0.735 . 4.790 4.790 2.602 1.018 0.589 1.000 0.991 0.984 825 . . . . ACIN1 82 0 152 12 0.0731707317073171 TRUE TRUE ENSG00000119714.11 . BCM GRCh38.p13 chr14 91234256 91234256 + G G C Missense_Mutation SNP ENST00000650645.1 exon2 c.C795G p.F265L exonic ENSG00000119714.11 . nonsynonymous SNV ENSG00000119714.11:ENST00000650645.1:exon2:c.C795G:p.F265L 14q32.11 C3L-03635 . . . . . . . . . 10.20 D T D P D D L T D 0.704 T T D 0.494 0.515 0.679 1.266 T T D T D T 3.615 25.100 0.998 D D 0.431 4.541 0.444 4.689 0.217 0.461 0.577 0.576 0.568 . 5.260 5.260 1.722 1.176 0.676 1.000 0.984 0.459 900 GPCR,_rhodopsin-like,_7TM . . ID=COSV53176767;OCCURENCE=1(oesophagus) GPR68 234 0 484 32 0.062015503875969 TRUE TRUE ENSG00000103742.12 . BCM GRCh38.p13 chr15 65396133 65396133 + G G A Missense_Mutation SNP ENST00000352385.3 exon7 c.C1028T p.A343V exonic ENSG00000103742.12 . nonsynonymous SNV ENSG00000103742.12:ENST00000352385.3:exon7:c.C1028T:p.A343V 15q22.31 C3L-03635 . . . . . . . . . 4.20 D T P B N N N T N 0.058 T T D 0.126 0.375 0.340 1.514 D T T T T T 2.905 23.200 0.992 D N -0.576 1.031 -0.509 1.188 1.000 0.598 0.596 0.504 0.639 . 4.140 2.190 3.765 0.142 -0.397 1.000 0.997 0.777 458 Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IGDCC4 98 0 185 16 0.0796019900497512 TRUE TRUE ENSG00000167202.11 . BCM GRCh38.p13 chr15 78003440 78003440 + C C A Missense_Mutation SNP ENST00000300584.7 exon11 c.G2439T p.L813F exonic ENSG00000167202.11 . nonsynonymous SNV ENSG00000167202.11:ENST00000300584.7:exon11:c.G2439T:p.L813F 15q25.1 C3L-03635 . . . . . . . . . 13.20 D D D D D D H T D 0.819 T T D 0.302 0.798 0.772 0.958 T T D T D D 3.069 23.600 0.998 D N 0.161 3.136 -0.055 2.181 1.000 0.722 0.699 0.723 0.714 . 5.290 1.860 -0.234 1.026 0.599 0.672 0.548 0.837 772 Rab-GTPase-TBC_domain . . . TBC1D2B 79 0 186 14 0.07 TRUE TRUE ENSG00000157350.13 . BCM GRCh38.p13 chr16 70398515 70398515 + G G A Missense_Mutation SNP ENST00000342907.3 exon2 c.C16T p.R6W exonic ENSG00000157350.13 . nonsynonymous SNV ENSG00000157350.13:ENST00000342907.3:exon2:c.C16T:p.R6W 16q22.1 C3L-03635 3.485e-05 0 0 0 0 2.099e-05 0 0.0002 rs759434739 15.20 D D D D D D L T N 0.762 T T D 0.351 0.508 0.508 0.639 D D D D D D 3.455 24.600 0.999 D D 0.448 4.655 0.437 4.631 0.999 0.707 0.702 0.725 0.711 . 5.230 4.260 3.263 1.176 0.676 1.000 0.999 0.997 100 . . . ID=COSV61595915;OCCURENCE=1(endometrium) ST3GAL2 162 0 240 37 0.133574007220217 TRUE TRUE ENSG00000140873.16 . BCM GRCh38.p13 chr16 77293165 77293165 + G G A Missense_Mutation SNP ENST00000282849.10 exon20 c.C3100T p.L1034F exonic ENSG00000140873.16 . nonsynonymous SNV ENSG00000140873.16:ENST00000282849.10:exon20:c.C3100T:p.L1034F 16q23.1 C3L-03635 . . . . . . . . . 3.20 D D B B N N L T N 0.238 T T D 0.128 0.250 0.373 . T T T T T T 1.131 13.060 0.987 N N -0.877 0.550 -1.074 0.403 1.000 0.563 0.590 0.602 0.636 . 6.160 -7.560 -0.160 -0.213 0.671 0.000 0.353 0.599 848 . . . . ADAMTS18 174 0 332 27 0.0752089136490251 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675086 7675086 + A A T Missense_Mutation SNP ENST00000269305.8 exon5 c.T526A p.C176S exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.T526A:p.C176S 17p13.1 C3L-03635 . . . . . . . . rs967461896 18.20 D D P D D D M D D 0.992 D D D 0.946 0.927 0.988 1.163 T D D D D D 4.095 27.700 0.995 D D 0.823 9.245 0.794 9.949 1.000 0.722 0.698 0.698 0.735 . 5.590 5.590 9.325 1.312 0.756 1.000 0.999 0.932 434 p53,_DNA-binding_domain . . ID=COSV52681947;OCCURENCE=3(breast),1(liver),3(oesophagus),6(large_intestine),1(biliary_tract),2(ovary),1(NS),7(haematopoietic_and_lymphoid_tissue),2(pancreas),1(prostate),4(lung),1(thyroid),1(upper_aerodigestive_tract),1(endometrium) TP53 393 0 498 113 0.18494271685761 TRUE TRUE ENSG00000091536.19 . BCM GRCh38.p13 chr17 18120793 18120793 + G G A Missense_Mutation SNP ENST00000647165.2 exon2 c.G1993A p.V665M exonic ENSG00000091536.19 . nonsynonymous SNV ENSG00000091536.19:ENST00000647165.2:exon2:c.G1993A:p.V665M 17p11.2 C3L-03635 . . . . . . . . . 3.19 T T B B . N N D N 0.150 T T D 0.139 0.133 0.456 . D T T T T T 0.558 7.099 0.893 N N -1.220 0.213 -1.244 0.249 0.000 0.403 0.547 0.578 0.563 . 3.830 -1.500 0.092 0.040 0.480 0.000 0.001 0.008 247 . . . . MYO15A 110 0 160 19 0.106145251396648 TRUE TRUE ENSG00000130816.16 . BCM GRCh38.p13 chr19 10142044 10142044 + C C T Missense_Mutation SNP ENST00000340748.8 exon29 c.G3245A p.R1082H exonic ENSG00000130816.16 . nonsynonymous SNV ENSG00000130816.16:ENST00000340748.8:exon29:c.G3245A:p.R1082H 19p13.2 C3L-03635 . . . . . . . . . 14.20 D T P B D D M D D 0.576 D D D 0.577 0.699 0.881 2.124 T D T T D D 3.144 23.700 0.999 D D 0.465 4.778 0.448 4.718 1.000 0.707 0.702 0.702 0.714 . 5.360 4.310 5.990 1.026 0.599 1.000 0.878 0.284 923 Bromo_adjacent_homology_(BAH)_domain . . . DNMT1 105 0 198 15 0.0704225352112676 TRUE NA ENSG00000130167.13 . BCM GRCh38.p13 chr19 11298203 11298203 + C C T Missense_Mutation SNP ENST00000316737.5 exon2 c.C131T p.T44M exonic ENSG00000130167.13 . nonsynonymous SNV ENSG00000130167.13:ENST00000316737.5:exon2:c.C131T:p.T44M 19p13.2 C3L-03635 8.24e-06 9.61e-05 0 0 0 0 0 0 rs768255025 5.20 T D D D N N L T N 0.224 T D D 0.285 . 0.596 0.361 T T T T T T 1.061 12.370 0.989 N N -0.327 1.549 -0.570 1.092 0.000 0.487 0.574 0.578 0.542 . 3.570 1.430 -0.237 0.007 0.507 0.003 0.002 0.002 814 . . . ID=COSV57441936;OCCURENCE=1(central_nervous_system) TSPAN16 316 0 523 45 0.0792253521126761 TRUE TRUE ENSG00000105392.16 . BCM GRCh38.p13 chr19 47836261 47836261 + G G A Missense_Mutation SNP ENST00000221996.12 exon3 c.G119A p.R40Q exonic ENSG00000105392.16 . nonsynonymous SNV ENSG00000105392.16:ENST00000221996.12:exon3:c.G119A:p.R40Q 19q13.33 C3L-03635 8.258e-06 0 0 0 0 1.503e-05 0 0 rs771450991 20.20 D D D D D D H D D 0.875 D D D 0.866 0.896 0.965 0.780 D D D D D D 4.303 29.600 0.998 D D 0.675 6.785 0.544 5.585 1.000 0.554 0.574 0.602 0.613 . 3.670 3.670 9.235 0.973 0.581 1.000 0.998 0.954 912 Homeobox_domain . . . CRX 329 0 700 71 0.0920881971465629 TRUE NA ENSG00000105464.3 . BCM GRCh38.p13 chr19 48443764 48443764 + C C A Missense_Mutation SNP ENST00000263269.3 exon13 c.C3838A p.R1280S exonic ENSG00000105464.3 . nonsynonymous SNV ENSG00000105464.3:ENST00000263269.3:exon13:c.C3838A:p.R1280S 19q13.33 C3L-03635 . . . . . . . . . 3.20 D T B B U N N T N 0.099 T T D 0.042 0.197 0.333 . D T T T T T 2.668 22.800 0.985 N N -0.746 0.737 -0.706 0.891 0.999 0.646 0.541 0.645 0.639 . 2.370 2.370 -1.052 0.840 0.443 0.000 0.754 0.977 958 . . . . GRIN2D 161 0 337 42 0.110817941952507 TRUE TRUE ENSG00000198538.11 . BCM GRCh38.p13 chr19 52799762 52799762 + C C T Missense_Mutation SNP ENST00000457749.7 exon4 c.G2083A p.E695K exonic ENSG00000198538.11 . nonsynonymous SNV ENSG00000198538.11:ENST00000457749.7:exon4:c.G2083A:p.E695K 19q13.41 C3L-03635 . . . . . . . . . 0.19 T T P B . N N T N 0.230 T T T 0.043 0.517 0.169 0.046 T T T T T T 1.491 15.680 0.967 N N -0.943 0.468 -1.106 0.369 0.000 0.615 0.634 0.609 0.636 . 1.780 -1.220 0.021 0.586 0.432 0.000 0.020 0.167 976 Zinc_finger_C2H2-type . . . ZNF28 357 0 559 30 0.0509337860780985 NA TRUE ENSG00000198300.14 . BCM GRCh38.p13 chr19 56817799 56817799 + G G A Missense_Mutation SNP ENST00000326441.15 exon9 c.C809T p.T270M exonic ENSG00000198300.14 . nonsynonymous SNV ENSG00000198300.14:ENST00000326441.15:exon9:c.C809T:p.T270M 19q13.43 C3L-03635 0.0004 0.0007 0 0.0001 0 0.0006 0 0.0001 rs148655323 7.19 D D D D D . L T N 0.472 T T T 0.130 . 0.612 0.291 T T T T T D 3.730 25.500 0.999 D N 0.312 3.839 0.278 3.591 0.687 0.487 0.574 0.574 0.564 . 4.280 3.220 1.423 1.176 0.676 0.944 1.000 0.998 976 . . . ID=COSV55624734;OCCURENCE=3(large_intestine),1(stomach),1(pancreas),1(upper_aerodigestive_tract) PEG3 281 0 478 139 0.225283630470016 TRUE TRUE ENSG00000128250.5 . BCM GRCh38.p13 chr22 29442001 29442001 + C C T Missense_Mutation SNP ENST00000354373.2 exon2 c.C833T p.P278L exonic ENSG00000128250.5 . nonsynonymous SNV ENSG00000128250.5:ENST00000354373.2:exon2:c.C833T:p.P278L 22q12.2 C3L-03635 . . . . . . . . . 2.19 T T P P . N M T D 0.226 T T T 0.116 0.601 0.708 0.537 T T T T T T 0.636 7.860 0.942 N N -0.630 0.934 -0.873 0.658 0.000 0.554 0.588 0.668 0.530 . 1.420 0.295 0.886 0.275 0.405 0.021 0.042 0.145 527 0.000 . . . RFPL1 83 0 172 32 0.156862745098039 TRUE TRUE ENSG00000123572.17 . BCM GRCh38.p13 chrX 105908732 105908732 + C C T Missense_Mutation SNP ENST00000243300.14 exon13 c.C1091T p.P364L exonic ENSG00000123572.17 . nonsynonymous SNV ENSG00000123572.17:ENST00000243300.14:exon13:c.C1091T:p.P364L Xq22.3 C3L-03635 . . . . . . . . . 8.19 D D P B N D N T D 0.220 T T D 0.075 0.295 0.217 . T D T T D T 2.315 21.700 0.998 D . . . . . 0.002 . . . . . 4.910 4.040 1.187 1.026 0.599 0.973 0.988 0.996 35 . . . . NRK 23 0 40 14 0.259259259259259 TRUE TRUE ENSG00000155495.9 . BCM GRCh38.p13 chrX 141908144 141908144 + G G A Missense_Mutation SNP ENST00000285879.5 exon4 c.G2740A p.E914K exonic ENSG00000155495.9 . nonsynonymous SNV ENSG00000155495.9:ENST00000285879.5:exon4:c.G2740A:p.E914K Xq27.2 C3L-03635 . . . . . . . . . 3.18 D T P B . N L T D 0.178 T T T 0.036 0.426 0.191 . T T T T D T 0.944 10.920 0.983 N . . . . . 0.000 . . . . . 0.837 0.837 0.162 -1.122 0.303 0.006 0.001 0.077 987 MAGE_homology_domain . . . MAGEC1 112 0 192 27 0.123287671232877 TRUE NA ENSG00000158125.10 . BCM GRCh38.p13 chr2 31379977 31379977 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000158125.10 ENST00000379416.4:exon13:c.1133-1G>A . . 2p23.1 C3L-03635 . . . . . . . . rs1028214638 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.210 33 0.993 D . 1.053 15.675 0.884 13.067 1.000 0.061 0.060 0.063 0.057 0.980 6.100 6.100 7.327 1.026 0.599 1.000 0.274 0.075 928 . . . . XDH 524 0 836 48 0.0542986425339367 TRUE NA ENSG00000115155.18 . BCM GRCh38.p13 chr2 26464087 26464087 + G G A Silent SNP ENST00000272371.7 exon40 c.C4980T p.D1660D exonic ENSG00000115155.18 . synonymous SNV ENSG00000115155.18:ENST00000272371.7:exon40:c.C4980T:p.D1660D 2p23.3 C3L-03635 0.0005 0.0048 0 0 0 3.046e-05 0 0.0008 rs149549554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55501671;OCCURENCE=1(oesophagus),1(large_intestine) OTOF 208 0 455 30 0.0618556701030928 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178548443 178548443 + A A G Silent SNP ENST00000591111.5 exon289 c.T88260C p.R29420R exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon289:c.T88260C:p.R29420R 2q31.2 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59972555;OCCURENCE=1(large_intestine) TTN 211 0 397 26 0.0614657210401891 TRUE TRUE ENSG00000144619.15 . BCM GRCh38.p13 chr3 2988399 2988399 + C C T Silent SNP ENST00000418658.6 exon14 c.C1413T p.D471D exonic ENSG00000144619.15 . synonymous SNV ENSG00000144619.15:ENST00000418658.6:exon14:c.C1413T:p.D471D 3p26.2 C3L-03635 . . . . . . . . rs1037405854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61867980;OCCURENCE=3(oesophagus),1(lung),1(endometrium) CNTN4 264 0 315 28 0.0816326530612245 TRUE TRUE ENSG00000088727.12 . BCM GRCh38.p13 chr3 47236058 47236058 + G G T Silent SNP ENST00000335044.6 exon19 c.C2193A p.V731V exonic ENSG00000088727.12 . synonymous SNV ENSG00000088727.12:ENST00000335044.6:exon19:c.C2193A:p.V731V 3p21.31 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF9 200 0 386 25 0.0608272506082725 TRUE TRUE ENSG00000113924.12 . BCM GRCh38.p13 chr3 120638492 120638492 + C C T Silent SNP ENST00000283871.10 exon12 c.G969A p.G323G exonic ENSG00000113924.12 . synonymous SNV ENSG00000113924.12:ENST00000283871.10:exon12:c.G969A:p.G323G 3q13.33 C3L-03635 0.0001 0 8.64e-05 0 0 0.0002 0 0 rs376724242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HGD 368 0 612 49 0.0741301059001513 TRUE NA ENSG00000204963.6 . BCM GRCh38.p13 chr5 140834680 140834680 + C C T Silent SNP ENST00000525929.2 exon1 c.C297T p.S99S exonic ENSG00000204963.6 . synonymous SNV ENSG00000204963.6:ENST00000525929.2:exon1:c.C297T:p.S99S 5q31.3 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65344985;OCCURENCE=1(endometrium) PCDHA7 588 1 782 77 0.089639115250291 NA TRUE ENSG00000112818.10 . BCM GRCh38.p13 chr6 46834579 46834579 + G G T Silent SNP ENST00000230588.9 exon12 c.G1611T p.A537A exonic ENSG00000112818.10 . synonymous SNV ENSG00000112818.10:ENST00000230588.9:exon12:c.G1611T:p.A537A 6p12.3 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEP1A 50 0 126 10 0.0735294117647059 NA TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152331134 152331134 + A A G Silent SNP ENST00000367255.10 exon78 c.T13551C p.G4517G exonic ENSG00000131018.24 . synonymous SNV ENSG00000131018.24:ENST00000367255.10:exon78:c.T13551C:p.G4517G 6q25.2 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE1 356 0 534 32 0.0565371024734982 TRUE TRUE ENSG00000104365.15 . BCM GRCh38.p13 chr8 42306405 42306405 + A A G Silent SNP ENST00000520810.6 exon7 c.A540G p.T180T exonic ENSG00000104365.15 . synonymous SNV ENSG00000104365.15:ENST00000520810.6:exon7:c.A540G:p.T180T 8p11.21 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IKBKB 189 0 413 34 0.0760626398210291 TRUE TRUE ENSG00000147804.10 . BCM GRCh38.p13 chr8 144415375 144415375 + C C T Silent SNP ENST00000301305.8 exon3 c.G519A p.A173A exonic ENSG00000147804.10 . synonymous SNV ENSG00000147804.10:ENST00000301305.8:exon3:c.G519A:p.A173A 8q24.3 C3L-03635 1.217e-05 0 0 0 0 0 0 7.428e-05 rs782696621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC39A4 155 0 310 26 0.0773809523809524 TRUE NA ENSG00000041982.16 . BCM GRCh38.p13 chr9 115078106 115078106 + G G A Silent SNP ENST00000350763.9 exon7 c.C2511T p.Y837Y exonic ENSG00000041982.16 . synonymous SNV ENSG00000041982.16:ENST00000350763.9:exon7:c.C2511T:p.Y837Y 9q33.1 C3L-03635 9.069e-05 0.0006 8.649e-05 0 0 3e-05 0 0.0001 rs146641282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60788749;OCCURENCE=1(central_nervous_system),1(ovary) TNC 200 0 354 43 0.10831234256927 TRUE TRUE ENSG00000107611.16 . BCM GRCh38.p13 chr10 17084460 17084460 + C C T Silent SNP ENST00000377833.10 exon17 c.G2112A p.S704S exonic ENSG00000107611.16 . synonymous SNV ENSG00000107611.16:ENST00000377833.10:exon17:c.G2112A:p.S704S 10p13 C3L-03635 9.215e-06 0 0 0 0 0 0 6.592e-05 rs774463666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64716375;OCCURENCE=1(skin) CUBN 447 0 682 47 0.0644718792866941 TRUE TRUE ENSG00000165383.11 . BCM GRCh38.p13 chr10 48913532 48913532 + C C T Silent SNP ENST00000374160.7 exon1 c.G624A p.A208A exonic ENSG00000165383.11 . synonymous SNV ENSG00000165383.11:ENST00000374160.7:exon1:c.G624A:p.A208A 10q11.23 C3L-03635 8.236e-06 0 0 0 0 1.498e-05 0 0 rs750366620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53282970;OCCURENCE=1(stomach),1(endometrium) LRRC18 345 0 544 105 0.161787365177196 TRUE TRUE ENSG00000220948.5 . BCM GRCh38.p13 chr11 48980948 48980948 + G G A Silent SNP ENST00000649162.1 exon3 c.C465T p.H155H exonic ENSG00000220948.5 . synonymous SNV ENSG00000220948.5:ENST00000649162.1:exon3:c.C465T:p.H155H 11p11.12 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM51GP 201 0 299 18 0.056782334384858 TRUE NA ENSG00000111432.4 . BCM GRCh38.p13 chr12 130163758 130163758 + C C T Silent SNP ENST00000229030.4 exon1 c.C816T p.V272V exonic ENSG00000111432.4 . synonymous SNV ENSG00000111432.4:ENST00000229030.4:exon1:c.C816T:p.V272V 12q24.33 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FZD10 220 0 439 41 0.0854166666666667 TRUE TRUE ENSG00000159433.12 . BCM GRCh38.p13 chr15 42686336 42686336 + T T C Silent SNP ENST00000290607.12 exon23 c.T4758C p.Y1586Y exonic ENSG00000159433.12 . synonymous SNV ENSG00000159433.12:ENST00000290607.12:exon23:c.T4758C:p.Y1586Y 15q15.2 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STARD9 257 0 344 29 0.0777479892761394 TRUE TRUE ENSG00000140521.15 . BCM GRCh38.p13 chr15 89317488 89317488 + G G A Silent SNP ENST00000442287.6 exon22 c.C3531T p.V1177V exonic ENSG00000140521.15 . synonymous SNV ENSG00000140521.15:ENST00000442287.6:exon22:c.C3531T:p.V1177V 15q26.1 C3L-03635 . . . . . . . . rs1060504039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51520403;OCCURENCE=1(stomach) POLG 547 0 733 59 0.0744949494949495 TRUE TRUE ENSG00000182481.9 . BCM GRCh38.p13 chr17 68037471 68037471 + G G A Silent SNP ENST00000330459.8 exon3 c.G189A p.P63P exonic ENSG00000182481.9 . synonymous SNV ENSG00000182481.9:ENST00000330459.8:exon3:c.G189A:p.P63P 17q24.2 C3L-03635 8.248e-06 0 0 0 0 1.501e-05 0 0 rs782745827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57857337;OCCURENCE=2(central_nervous_system) KPNA2 159 0 201 27 0.118421052631579 NA TRUE ENSG00000196268.11 . BCM GRCh38.p13 chr19 21423985 21423985 + T T C Silent SNP ENST00000355504.4 exon2 c.T942C p.F314F exonic ENSG00000196268.11 . synonymous SNV ENSG00000196268.11:ENST00000355504.4:exon2:c.T942C:p.F314F 19p12 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF493 367 0 444 38 0.0788381742738589 NA TRUE ENSG00000184032.3 . BCM GRCh38.p13 chr21 30635320 30635320 + C C T Silent SNP ENST00000330798.3 exon1 c.C57T p.G19G exonic ENSG00000184032.3 . synonymous SNV ENSG00000184032.3:ENST00000330798.3:exon1:c.C57T:p.G19G 21q22.11 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58182517;OCCURENCE=3(large_intestine),1(bone),1(endometrium) KRTAP20-2 455 1 572 105 0.155096011816839 TRUE TRUE ENSG00000160886.13 . BCM GRCh38.p13 chr8 142700490 142700490 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000160886.13 ENST00000292430.10:c.-38C>T . . 8q24.3 C3L-03635 4.56e-05 0 0 0 0 0.0001 0 0 rs782374804 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LY6K 126 0 404 25 0.0582750582750583 TRUE NA ENSG00000207930.1 . BCM GRCh38.p13 chr10 24275721 24275721 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207930.1 . . . 10p12.2 C3L-03635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR603 194 1 283 43 0.131901840490798 TRUE NA ENSG00000135127.11 . BCM GRCh38.p13 chr12 120094305 120094305 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000135127.11 ENST00000397558.6:c.*1144G>A . . 12q24.23 C3L-03635 7.113e-05 0 0 0 0 0.0003 0 0 rs545012687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BICDL1 129 0 285 23 0.0746753246753247 TRUE NA ENSG00000092051.17 . BCM GRCh38.p13 chr14 23572962 23572962 + C C T Intron SNP NA NA NA NA intronic ENSG00000092051.17 . . . 14q11.2 C3L-03635 . . . . . . . . rs552590147 1.15 D . B B . N . T N 0.034 T T T 0.021 0.269 0.129 . . . T T T T -0.165 0.606 0.961 N N -1.191 0.234 -1.306 0.205 1.000 0.660 0.492 0.696 0.530 . 3.200 -2.250 -1.412 -0.403 -0.273 0.000 0.022 0.206 627 . . . . JPH4 87 0 162 42 0.205882352941176 TRUE NA ENSG00000095002.15 . BCM GRCh38.p13 chr2 47403271 47403271 + C C T Missense_Mutation SNP ENST00000233146.7 exon1 c.C80T p.P27L exonic ENSG00000095002.15 . nonsynonymous SNV ENSG00000095002.15:ENST00000233146.7:exon1:c.C80T:p.P27L 2p21 C3N-00518 5.282e-05 0.0002 0 0 0 6.336e-05 0 0 rs750746034 18.20 D D D P D D M D D 0.669 D D D 0.683 . 0.865 0.028 T D D D D D 4.284 29.400 0.999 D D 0.742 7.743 0.711 7.973 1.000 0.442 0.522 0.522 0.562 . 5.570 5.570 5.469 1.022 0.593 1.000 1.000 0.991 786 DNA_mismatch_repair_protein_MutS-like,_N-terminal . . . MSH2 688 0 894 62 0.0648535564853557 TRUE NA ENSG00000115665.9 . BCM GRCh38.p13 chr2 107992156 107992156 + - NA T Frame_Shift_Ins NA ENST00000264047.3 exon3 c.230dupT p.P78Tfs*17 exonic ENSG00000115665.9 . frameshift insertion ENSG00000115665.9:ENST00000264047.3:exon3:c.230dupT:p.P78Tfs*17 2q12.3 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC5A7 NA NA NA NA NA NA NA ENSG00000131378.14 . BCM GRCh38.p13 chr3 16316899 16316899 + T T G Missense_Mutation SNP ENST00000334133.9 exon10 c.A1666C p.N556H exonic ENSG00000131378.14 . nonsynonymous SNV ENSG00000131378.14:ENST00000334133.9:exon10:c.A1666C:p.N556H 3p24.3 C3N-00518 . . . . . . . . . 0.20 T T B B N N N T N 0.074 T T T 0.010 0.091 0.154 0.112 T T T T T T -0.175 0.577 0.620 N N -1.449 0.098 -1.471 0.119 1.000 0.707 0.702 0.696 0.714 . 4.760 -2.860 -2.605 -1.797 -0.379 0.000 0.000 0.010 685 . . . . RFTN1 592 0 649 54 0.0768136557610242 TRUE TRUE ENSG00000163833.8 . BCM GRCh38.p13 chr3 121621580 121621580 + G G A Missense_Mutation SNP ENST00000338040.6 exon3 c.G151A p.E51K exonic ENSG00000163833.8 . nonsynonymous SNV ENSG00000163833.8:ENST00000338040.6:exon3:c.G151A:p.E51K 3q13.33 C3N-00518 . . . . . . . . . 7.20 D T P P N D M T N 0.495 T T T 0.083 0.335 0.610 0.389 T T T T D D 3.855 26.100 0.999 D D 0.614 6.067 0.636 6.703 0.975 0.497 0.590 0.547 0.530 . 5.470 5.470 5.430 1.176 0.676 1.000 1.000 0.992 355 Zinc_finger,_TRAF-type . . ID=COSV104647279;OCCURENCE=1(skin) FBXO40 247 2 375 35 0.0853658536585366 TRUE TRUE ENSG00000173175.14 . BCM GRCh38.p13 chr3 123447759 123447759 + G G A Missense_Mutation SNP ENST00000462833.5 exon1 c.C787T p.R263W exonic ENSG00000173175.14 . nonsynonymous SNV ENSG00000173175.14:ENST00000462833.5:exon1:c.C787T:p.R263W 3q21.1 C3N-00518 . . . . . . . . . 5.20 T D P P N N N T N 0.193 T T D 0.280 0.480 0.592 0.921 T T T T D T 2.710 22.800 0.994 D D -0.276 1.675 -0.217 1.744 1.000 0.598 0.590 0.607 0.639 . 4.910 1.870 0.610 -0.207 -0.199 0.224 0.211 0.097 835 Adenylate_cyclase,_N-terminal . . ID=COSV71901312;OCCURENCE=1(central_nervous_system) ADCY5 130 0 158 10 0.0595238095238095 TRUE TRUE ENSG00000135226.18 . BCM GRCh38.p13 chr4 69280732 69280732 + C C G Missense_Mutation SNP ENST00000335568.10 exon1 c.C232G p.P78A exonic ENSG00000135226.18 . nonsynonymous SNV ENSG00000135226.18:ENST00000335568.10:exon1:c.C232G:p.P78A 4q13.2 C3N-00518 . . . . . . . . . 6.20 D D D P U N M T D 0.184 T T T 0.132 0.548 0.260 0.198 T T T T D T 1.092 12.690 0.958 N N -0.611 0.969 -0.910 0.607 0.000 0.487 0.574 0.574 0.564 . 2.180 -1.610 -0.247 -0.824 0.435 0.000 0.001 0.010 884 . . . . UGT2B28 73 0 307 33 0.0970588235294118 NA TRUE ENSG00000177839.7 . BCM GRCh38.p13 chr5 141189474 141189474 + C C T Missense_Mutation SNP ENST00000316105.7 exon1 c.C2156T p.A719V exonic ENSG00000177839.7 . nonsynonymous SNV ENSG00000177839.7:ENST00000316105.7:exon1:c.C2156T:p.A719V 5q31.3 C3N-00518 . . . . . . . . . 0.5 . T . . . . . . . 0.245 . . . . . 0.600 . T . T T . . 2.219 21.000 0.957 N . . . . . 0.004 0.078 0.097 0.084 0.063 0.053 3.630 -3.200 -0.120 0.910 0.323 0.015 0.050 0.034 672 . . . ID=COSV53376611;OCCURENCE=1(oesophagus) PCDHB9 535 0 605 43 0.066358024691358 NA TRUE ENSG00000204695.4 . BCM GRCh38.p13 chr6 29307134 29307134 + G G T Missense_Mutation SNP ENST00000641895.1 exon2 c.G445T p.A149S exonic ENSG00000204695.4 . nonsynonymous SNV ENSG00000204695.4:ENST00000641895.1:exon2:c.G445T:p.A149S 6p22.1 C3N-00518 . . . . . . . . . 0.19 T T B B N N N T N 0.054 T T T 0.074 0.357 0.146 0.190 T T T T T . 0.350 4.864 0.273 N N -1.281 0.175 -1.168 0.311 0.000 0.487 0.590 0.547 0.564 . 4.860 -0.284 -1.811 0.770 0.656 0.000 0.992 0.996 774 GPCR,_rhodopsin-like,_7TM . . . OR14J1 309 0 410 40 0.0888888888888889 TRUE TRUE ENSG00000112541.16 . BCM GRCh38.p13 chr6 165395261 165395261 + G G T Missense_Mutation SNP ENST00000539869.3 exon15 c.C2223A p.F741L exonic ENSG00000112541.16 . nonsynonymous SNV ENSG00000112541.16:ENST00000539869.3:exon15:c.C2223A:p.F741L 6q27 C3N-00518 8.428e-06 0 0 0 0 0 0 6.197e-05 rs773851683 8.16 . . B B N D M . . . T T D 0.383 0.614 0.641 1.125 T D T T D D 2.778 23.000 0.993 D D 0.007 2.537 0.132 2.871 0.034 0.638 0.574 0.574 0.668 . 5.570 3.790 5.511 1.176 0.676 1.000 1.000 1.000 993 3'5'-cyclic_nucleotide_phosphodiesterase,_catalytic_domain . . . PDE10A 74 0 271 28 0.0936454849498328 TRUE NA ENSG00000155897.10 . BCM GRCh38.p13 chr8 130909727 130909727 + C C T Missense_Mutation SNP ENST00000286355.10 exon6 c.G1621A p.E541K exonic ENSG00000155897.10 . nonsynonymous SNV ENSG00000155897.10:ENST00000286355.10:exon6:c.G1621A:p.E541K 8q24.22 C3N-00518 . . . . . . . . . 20.20 D D D D D D H D D 0.969 D D D 0.904 0.875 0.995 1.345 D D D D D D 4.287 29.500 0.999 D D 1.145 19.741 1.050 22.321 1.000 0.638 0.574 0.653 0.542 . 5.930 5.930 7.905 1.026 0.599 1.000 0.989 0.998 708 Adenylyl_cyclase_class-3/4/guanylyl_cyclase;Adenylyl_cyclase_class-4/guanylyl_cyclase,_conserved_site . . ID=COSV53903634;OCCURENCE=1(liver),1(NS),3(skin) ADCY8 220 0 329 33 0.0911602209944751 TRUE TRUE ENSG00000042832.12 . BCM GRCh38.p13 chr8 132923467 132923467 + G G A Nonsense_Mutation SNP ENST00000220616.9 exon22 c.G4658A p.W1553X exonic ENSG00000042832.12 . stopgain ENSG00000042832.12:ENST00000220616.9:exon22:c.G4658A:p.W1553X 8q24.22 C3N-00518 . . . . . . . . . 5.7 . . . . N A . . . 0.949 . . . . . . . . . D D D . 7.704 39 0.989 D N 0.355 4.077 0.093 2.705 0.986 0.487 0.590 0.574 0.564 . 4.770 3.890 4.469 1.176 0.610 1.000 0.023 0.097 686 Thyroglobulin_type-1 . . . TG 280 0 312 44 0.123595505617978 TRUE TRUE ENSG00000185122.11 . BCM GRCh38.p13 chr8 144309584 144309584 + T T G Missense_Mutation SNP ENST00000528838.6 exon3 c.T356G p.V119G exonic ENSG00000185122.11 . nonsynonymous SNV ENSG00000185122.11:ENST00000528838.6:exon3:c.T356G:p.V119G 8q24.3 C3N-00518 . . . . . . . . . 17.19 D D D D D D L D D 0.460 D D D 0.754 0.500 0.858 0.853 T D D D D . 3.430 24.500 0.997 D D 0.693 7.021 0.664 7.133 1.000 0.707 0.702 0.723 0.714 . 5.470 5.470 4.177 0.168 0.663 1.000 0.990 0.991 946 . . . . HSF1 224 0 354 37 0.0946291560102302 TRUE TRUE ENSG00000196422.11 . BCM GRCh38.p13 chr9 135487640 135487640 + T T C Missense_Mutation SNP ENST00000356818.7 exon4 c.T3130C p.S1044P exonic ENSG00000196422.11 . nonsynonymous SNV ENSG00000196422.11:ENST00000356818.7:exon4:c.T3130C:p.S1044P 9q34.3 C3N-00518 . . . . . . . . . 0.20 T T B B N N L T N 0.047 T T T 0.007 0.242 0.043 0.330 T T T T T T 0.503 6.533 0.330 N N -1.445 0.099 -1.518 0.101 1.000 0.696 0.588 0.723 0.636 . 4.700 -7.280 -1.157 -0.215 -0.176 0.000 0.000 0.004 508 . . . . PPP1R26 29 0 79 6 0.0705882352941176 NA TRUE ENSG00000149782.11 . BCM GRCh38.p13 chr11 64267192 64267192 + A A G Missense_Mutation SNP ENST00000540288.5 exon30 c.A3422G p.E1141G exonic ENSG00000149782.11 . nonsynonymous SNV ENSG00000149782.11:ENST00000540288.5:exon30:c.A3422G:p.E1141G 11q13.1 C3N-00518 . . . . . . . . . 12.20 D D D D D D L T D 0.247 T T D 0.321 0.666 0.572 0.844 T T T T D D 4.604 32 0.997 D D 0.376 4.195 0.326 3.870 1.000 0.722 0.694 0.725 0.735 . 4.420 3.270 4.383 1.228 0.658 1.000 1.000 0.991 654 Phospholipase_C-beta,_C-terminal_domain . . . PLCB3 271 1 437 32 0.0682302771855011 TRUE TRUE ENSG00000137713.16 . BCM GRCh38.p13 chr11 111764855 111764855 + C C T Missense_Mutation SNP ENST00000527614.6 exon3 c.G256A p.G86R exonic ENSG00000137713.16 . nonsynonymous SNV ENSG00000137713.16:ENST00000527614.6:exon3:c.G256A:p.G86R 11q23.1 C3N-00518 8.258e-06 0 0 0 0 0 0 6.081e-05 rs782540147 15.20 D D D P D D H T D 0.952 T T D 0.488 0.720 0.727 0.890 D T D D D D 3.976 26.800 0.999 D D 0.861 10.086 0.798 10.054 1.000 0.722 0.672 0.663 0.735 . 5.280 5.280 7.317 1.013 0.599 1.000 1.000 0.999 106 . . . . PPP2R1B 248 0 456 38 0.0769230769230769 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227341 25227341 + T T G Missense_Mutation SNP ENST00000256078.10 exon3 c.A183C p.Q61H exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A183C:p.Q61H 12p12.1 C3N-00518 . . . . . . . . rs17851045 17.20 D D B B D D M D D 0.760 D D D 0.644 0.659 0.905 1.857 D D D D D T 2.993 23.400 0.997 D D 0.298 3.768 0.383 4.239 0.998 0.722 0.710 0.710 0.735 . 5.770 5.770 2.812 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55498802;OCCURENCE=2(breast),6(liver),1(genital_tract),1(cervix),117(large_intestine),2(central_nervous_system),17(biliary_tract),3(ovary),8(stomach),50(haematopoietic_and_lymphoid_tissue),2(urinary_tract),1(kidney),71(pancreas),2(skin),2(prostate),28(lung),1(thyroid),2(small_intestine),5(endometrium) KRAS 106 0 335 50 0.12987012987013 TRUE TRUE ENSG00000166866.13 . BCM GRCh38.p13 chr12 57038471 57038471 + G G C Missense_Mutation SNP ENST00000300119.8 exon17 c.C1701G p.F567L exonic ENSG00000166866.13 . nonsynonymous SNV ENSG00000166866.13:ENST00000300119.8:exon17:c.C1701G:p.F567L 12q13.3 C3N-00518 . . . . . . . . . 15.20 D T D D D D M T D 0.706 D D D 0.643 0.767 0.794 0.334 T D T T D D 3.197 23.900 0.999 D D 0.641 6.374 0.524 5.383 1.000 0.516 0.547 0.602 0.586 . 4.940 3.080 4.883 0.236 0.662 1.000 1.000 0.999 174 Class_I_myosin,_motor_domain;Myosin_head,_motor_domain . . ID=COSV100271499;OCCURENCE=1(testis) MYO1A 661 0 941 55 0.0552208835341365 TRUE NA ENSG00000188603.20 . BCM GRCh38.p13 chr16 28477817 28477817 + G G C Missense_Mutation SNP ENST00000635887.1 exon15 c.C1117G p.L373V exonic ENSG00000188603.20;ENSG00000261832.6 . nonsynonymous SNV ENSG00000261832.6:ENST00000635887.1:exon15:c.C1117G:p.L373V,ENSG00000188603.20:ENST00000569430.6:exon16:c.C1117G:p.L373V 16p12.1 C3N-00518 . . . . . . . . rs752700529 6.20 T T P P N D M T N 0.378 T T D 0.082 0.445 0.762 0.195 T D D T T T 1.253 14.050 0.981 D N -0.719 0.781 -0.708 0.889 0.002 0.707 0.725 0.805 0.714 . 5.290 -0.350 0.193 -0.124 -0.108 0.991 0.919 0.973 749 . . . . CLN3 565 0 752 71 0.086269744835966 TRUE NA ENSG00000178921.14 . BCM GRCh38.p13 chr17 8256633 8256633 + C C T Missense_Mutation SNP ENST00000314666.11 exon8 c.C931T p.H311Y exonic ENSG00000178921.14 . nonsynonymous SNV ENSG00000178921.14:ENST00000314666.11:exon8:c.C931T:p.H311Y 17p13.1 C3N-00518 . . . . . . . . . 17.20 D D D D D D H T D 0.964 D D T 0.545 0.899 0.913 0.914 T D D D D D 3.714 25.500 0.998 D D 1.028 14.812 0.903 13.881 1.000 0.707 0.702 0.702 0.714 . 5.220 5.220 5.436 1.026 0.599 1.000 0.986 0.989 484 . . . . PFAS 188 0 225 28 0.110671936758893 TRUE TRUE ENSG00000187775.17 . BCM GRCh38.p13 chr17 78449575 78449575 + C C T Missense_Mutation SNP ENST00000389840.7 exon69 c.G11050A p.V3684M exonic ENSG00000187775.17 . nonsynonymous SNV ENSG00000187775.17:ENST00000389840.7:exon69:c.G11050A:p.V3684M 17q25.3 C3N-00518 3.009e-05 0 0 0 0 2.758e-05 0 9.615e-05 rs772970929 6.13 . . . . N D . T . 0.246 T T D 0.201 . 0.220 . T . T T D D 1.390 15.010 0.984 D D -0.134 2.070 -0.157 1.893 0.077 0.706 0.710 0.602 0.613 . 4.700 2.710 3.312 0.130 -0.187 0.995 0.994 0.322 878 . . . . DNAH17 137 2 168 18 0.0967741935483871 TRUE NA ENSG00000141646.14 . BCM GRCh38.p13 chr18 51047258 51047258 + G G A Missense_Mutation SNP ENST00000342988.8 exon2 c.G212A p.C71Y exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon2:c.G212A:p.C71Y 18q21.2 C3N-00518 . . . . . . . . . 20.20 D D D D D D M D D 0.935 D D D 0.901 0.909 0.980 4.141 D D D D D D 4.228 28.900 0.998 D D 1.081 16.708 1.015 19.772 1.000 0.706 0.725 0.710 0.613 . 5.640 5.640 10.003 1.161 0.676 1.000 1.000 1.000 672 MAD_homology_1,_Dwarfin-type;MAD_homology,_MH1 . . . SMAD4 61 0 371 43 0.103864734299517 TRUE TRUE ENSG00000105617.4 . BCM GRCh38.p13 chr19 54156787 54156787 + C C T Missense_Mutation SNP ENST00000222224.4 exon3 c.G551A p.G184E exonic ENSG00000105617.4 . nonsynonymous SNV ENSG00000105617.4:ENST00000222224.4:exon3:c.G551A:p.G184E 19q13.42 C3N-00518 8.295e-06 9.614e-05 0 0 0 0 0 0 rs551528484 0.15 T T . . N N . T N 0.111 T T T 0.075 0.235 0.232 0.024 T . T T T . -0.797 0.026 0.843 N N -1.311 0.159 -1.417 0.143 1.000 0.461 0.577 0.576 0.636 . 4.410 -7.060 -3.258 0.114 0.580 0.000 0.007 0.861 994 . . . . LENG1 163 0 181 12 0.0621761658031088 TRUE NA ENSG00000157557.13 . BCM GRCh38.p13 chr21 38818467 38818467 + A A C Missense_Mutation SNP ENST00000360938.8 exon7 c.A632C p.N211T exonic ENSG00000157557.13 . nonsynonymous SNV ENSG00000157557.13:ENST00000360938.8:exon7:c.A632C:p.N211T 21q22.2 C3N-00518 . . . . . . . . . 1.20 D T B B N N L T N 0.281 T T T 0.066 0.259 0.569 0.335 T T T T T T -0.408 0.185 0.925 N N -1.225 0.210 -1.345 0.181 1.000 0.672 0.654 0.698 0.711 . 6.160 -8.290 -0.199 1.312 0.756 0.000 0.139 0.149 566 . . . . ETS2 561 0 819 79 0.0879732739420935 TRUE TRUE ENSG00000183963.18 . BCM GRCh38.p13 chr22 31098840 31098840 + G G A Missense_Mutation SNP ENST00000347557.6 exon17 c.G2333A p.G778D exonic ENSG00000183963.18 . nonsynonymous SNV ENSG00000183963.18:ENST00000347557.6:exon17:c.G2333A:p.G778D 22q12.2 C3N-00518 . . . . . . . . . 16.20 D D D P N D L D D 0.356 D D D 0.234 0.263 0.599 1.181 T D D D D D 4.505 32 0.998 D D 0.304 3.799 0.359 4.080 1.000 0.789 0.709 0.768 0.711 . 4.760 4.760 9.115 1.176 0.676 1.000 0.083 0.169 632 . . . . SMTN 166 0 303 20 0.0619195046439628 TRUE TRUE ENSG00000085185.15 . BCM GRCh38.p13 chrX 130014609 130014609 + T T - Frame_Shift_Del NA ENST00000540052.5 exon3 c.1837delT p.S613Lfs*35 exonic ENSG00000085185.15 . frameshift deletion ENSG00000085185.15:ENST00000540052.5:exon3:c.1837delT:p.S613Lfs*35 Xq26.1 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCORL1 107 0 156 36 0.1875 TRUE TRUE ENSG00000138035.15 . BCM GRCh38.p13 chr2 55656130 55656130 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000138035.15 ENST00000447944.7:exon17:c.1441+1G>C . . 2p16.1 C3N-00518 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.858 35 0.995 D . 1.067 16.207 0.887 13.201 1.000 0.164 0.157 0.084 0.110 0.983 4.820 4.820 7.565 1.026 0.599 1.000 0.959 0.911 423 . . . . PNPT1 30 0 170 11 0.0607734806629834 TRUE TRUE ENSG00000153093.18 . BCM GRCh38.p13 chr2 111031680 111031680 + C C T Silent SNP ENST00000389811.8 exon16 c.C1425T p.H475H exonic ENSG00000153093.18 . synonymous SNV ENSG00000153093.18:ENST00000389811.8:exon16:c.C1425T:p.H475H 2q13 C3N-00518 8.239e-06 0 0 0 0 0 0 6.056e-05 rs757294119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACOXL 290 0 413 30 0.0677200902934537 TRUE NA ENSG00000107789.16 . BCM GRCh38.p13 chr10 87505506 87505506 + G G T Silent SNP ENST00000371996.9 exon1 c.G591T p.G197G exonic ENSG00000107789.16 . synonymous SNV ENSG00000107789.16:ENST00000371996.9:exon1:c.G591T:p.G197G 10q23.2 C3N-00518 . . . . . . . . rs910432787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MINPP1 191 0 290 42 0.126506024096386 TRUE NA ENSG00000170468.8 . BCM GRCh38.p13 chr14 73491938 73491938 + T T A Silent SNP ENST00000304061.8 exon1 c.T921A p.T307T exonic ENSG00000170468.8 . synonymous SNV ENSG00000170468.8:ENST00000304061.8:exon1:c.T921A:p.T307T 14q24.3 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RIOX1 221 0 365 39 0.0965346534653465 TRUE TRUE ENSG00000090905.19 . BCM GRCh38.p13 chr16 24806675 24806675 + A A T Silent SNP ENST00000395799.8 exon17 c.A4431T p.P1477P exonic ENSG00000090905.19 . synonymous SNV ENSG00000090905.19:ENST00000395799.8:exon17:c.A4431T:p.P1477P 16p12.1 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNRC6A 692 0 955 107 0.10075329566855 TRUE TRUE ENSG00000160299.17 . BCM GRCh38.p13 chr21 46334495 46334495 + C C T Silent SNP ENST00000359568.10 exon3 c.C366T p.V122V exonic ENSG00000160299.17 . synonymous SNV ENSG00000160299.17:ENST00000359568.10:exon3:c.C366T:p.V122V 21q22.3 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCNT 597 0 820 76 0.0848214285714286 TRUE TRUE ENSG00000182872.16 . BCM GRCh38.p13 chrX 47185790 47185790 + G G A Silent SNP ENST00000377604.8 exon21 c.G2430A p.E810E exonic ENSG00000182872.16 . synonymous SNV ENSG00000182872.16:ENST00000377604.8:exon21:c.G2430A:p.E810E Xp11.3 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBM10 371 1 478 84 0.149466192170818 TRUE TRUE ENSG00000130643.9 . BCM GRCh38.p13 chr10 133324561 133324561 + T T G 3'UTR SNP NA NA NA NA UTR3 ENSG00000130643.9 ENST00000252939.9:c.*1034A>C . . 10q26.3 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CALY 34 2 57 8 0.123076923076923 TRUE NA ENSG00000137707.13 . BCM GRCh38.p13 chr11 111497105 111497105 + G G A Intron SNP NA NA NA NA intronic ENSG00000137707.13 . . . 11q23.1 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BTG4 11 0 64 9 0.123287671232877 TRUE NA ENSG00000258561.2 . BCM GRCh38.p13 chr14 66496294 66496294 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000258561.2 . . . 14q23.3 C3N-00518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL359232.1 190 0 426 36 0.0779220779220779 TRUE NA ENSG00000117713.20 . BCM GRCh38.p13 chr1 26773456 26773456 + C C T Nonsense_Mutation SNP ENST00000324856.13 exon15 c.C3826T p.R1276X exonic ENSG00000117713.20 . stopgain ENSG00000117713.20:ENST00000324856.13:exon15:c.C3826T:p.R1276X 1p36.11 C3N-03840 . . . . . . . . . 6.7 . . . . D D . . . 0.983 . . . . . . . . . D D D . 7.063 37 0.997 D N 0.962 12.760 0.780 9.555 1.000 0.722 0.702 0.702 0.735 . 4.720 3.740 1.133 1.026 0.599 0.974 1.000 1.000 412 . . . ID=COSV61370466;OCCURENCE=1(breast),5(large_intestine),1(central_nervous_system),2(biliary_tract),2(NS),5(haematopoietic_and_lymphoid_tissue),5(stomach),1(soft_tissue),1(kidney),1(urinary_tract),3(pancreas),9(endometrium) ARID1A 97 0 179 16 0.0820512820512821 TRUE TRUE ENSG00000162613.16 . BCM GRCh38.p13 chr1 77960196 77960196 + G G A Missense_Mutation SNP ENST00000370768.6 exon16 c.C1564T p.P522S exonic ENSG00000162613.16 . nonsynonymous SNV ENSG00000162613.16:ENST00000370768.6:exon16:c.C1564T:p.P522S 1p31.1 C3N-03840 . . . . . . . . . 6.20 T T B B D D L T N 0.378 T T T 0.092 . 0.343 0.610 T T T T D D 2.489 22.400 0.994 D D 0.147 3.075 0.342 3.973 1.000 0.672 0.702 0.702 0.711 . 5.600 5.600 9.419 1.176 0.676 1.000 1.000 0.978 707 . . . ID=COSV53935551;OCCURENCE=1(skin) FUBP1 151 0 310 39 0.111747851002865 TRUE TRUE ENSG00000198837.10 . BCM GRCh38.p13 chr1 153930328 153930328 + C C T Missense_Mutation SNP ENST00000361217.9 exon28 c.G4460A p.R1487Q exonic ENSG00000198837.10 . nonsynonymous SNV ENSG00000198837.10:ENST00000361217.9:exon28:c.G4460A:p.R1487Q 1q21.3 C3N-03840 8.33e-06 0 0 0 0 1.507e-05 0 0 rs759874404 13.20 D D D P D D M T D 0.726 T T D 0.319 0.495 0.371 1.881 T T D T D D 4.104 27.800 0.999 D D 0.627 6.212 0.579 5.975 1.000 0.722 0.702 0.636 0.735 . 5.140 4.230 6.815 1.026 0.599 1.000 0.997 0.998 46 . . . ID=COSV63411501;OCCURENCE=1(large_intestine) DENND4B 143 0 289 62 0.176638176638177 TRUE TRUE ENSG00000198216.12 . BCM GRCh38.p13 chr1 181724514 181724514 + G G A Missense_Mutation SNP ENST00000367573.7 exon17 c.G2119A p.A707T exonic ENSG00000198216.12 . nonsynonymous SNV ENSG00000198216.12:ENST00000367573.7:exon17:c.G2119A:p.A707T 1q25.3 C3N-03840 . . . . . . . . . 18.20 D D D D N D L D D 0.815 D D D 0.697 0.426 0.938 1.616 D D D D D D 3.549 24.900 0.996 D D 0.608 6.002 0.559 5.744 1.000 0.563 0.654 0.602 0.564 . 4.860 4.860 9.728 1.176 0.674 1.000 0.920 0.282 606 Ion_transport_domain . . . CACNA1E 250 0 438 41 0.0855949895615866 TRUE NA ENSG00000171094.18 . BCM GRCh38.p13 chr2 29920460 29920460 + T T C Missense_Mutation SNP ENST00000389048.8 exon1 c.A200G p.Y67C exonic ENSG00000171094.18 . nonsynonymous SNV ENSG00000171094.18:ENST00000389048.8:exon1:c.A200G:p.Y67C 2p23.1 C3N-03840 . . . . . . . . . 11.19 D D D P . D N D N 0.616 D D D 0.249 0.362 0.783 0.788 T T D D D T 4.213 28.800 0.998 N N 0.396 4.317 0.429 4.571 0.999 0.598 0.590 0.607 0.639 . 5.360 5.360 1.752 1.062 0.576 1.000 0.981 0.983 817 . . . . ALK 238 0 415 44 0.0958605664488017 TRUE TRUE ENSG00000115896.16 . BCM GRCh38.p13 chr2 198084692 198084692 + A A C Missense_Mutation SNP ENST00000428675.6 exon2 c.A1175C p.E392A exonic ENSG00000115896.16 . nonsynonymous SNV ENSG00000115896.16:ENST00000428675.6:exon2:c.A1175C:p.E392A 2q33.1 C3N-03840 . . . . . . . . . 6.20 T T B B D D L T D 0.592 T T T 0.099 0.496 0.501 0.430 T T T T D D 2.551 22.500 0.980 D N 0.130 3.005 0.298 3.707 0.033 0.638 0.588 0.547 0.668 . 5.940 5.940 4.869 1.312 0.756 1.000 1.000 1.000 716 . . . . PLCL1 100 0 163 15 0.0842696629213483 TRUE TRUE ENSG00000163513.19 . BCM GRCh38.p13 chr3 30674108 30674108 + G G C Missense_Mutation SNP ENST00000295754.10 exon5 c.G1258C p.G420R exonic ENSG00000163513.19 . nonsynonymous SNV ENSG00000163513.19:ENST00000295754.10:exon5:c.G1258C:p.G420R 3p24.1 C3N-03840 . . . . . . . . . 19.20 D D D D D D H T D 0.987 D D D 0.825 0.948 0.968 1.617 D D D D D D 4.365 31 0.999 D D 1.153 20.237 1.081 25.025 1.000 0.722 0.590 0.609 0.735 . 5.980 5.980 10.003 1.176 0.674 1.000 1.000 0.988 925 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . TGFBR2 275 1 413 62 0.130526315789474 TRUE TRUE ENSG00000180767.10 . BCM GRCh38.p13 chr3 126542172 126542172 + G G A Missense_Mutation SNP ENST00000319340.7 exon3 c.G620A p.R207H exonic ENSG00000180767.10 . nonsynonymous SNV ENSG00000180767.10:ENST00000319340.7:exon3:c.G620A:p.R207H 3q21.3 C3N-03840 . . . . . . . . . 14.20 D D D D U D M T D 0.376 D D D 0.583 0.590 0.846 1.905 D T T T D T 3.774 25.700 0.998 D D 0.367 4.143 0.252 3.449 1.000 0.701 0.590 0.717 0.639 . 4.570 3.670 5.439 1.037 0.524 1.000 0.298 0.046 840 . . . . CHST13 82 0 229 26 0.101960784313725 TRUE TRUE ENSG00000144893.12 . BCM GRCh38.p13 chr3 151411447 151411447 + C C T Missense_Mutation SNP ENST00000474524.5 exon39 c.C5975T p.P1992L exonic ENSG00000144893.12 . nonsynonymous SNV ENSG00000144893.12:ENST00000474524.5:exon39:c.C5975T:p.P1992L 3q25.1 C3N-03840 8.24e-06 0 0 0 0 1.499e-05 0 0 rs766967153 13.20 D T D D D D M T D 0.663 T T D 0.249 0.375 0.151 1.234 T D T T D D 3.928 26.500 0.999 D D 0.762 8.087 0.744 8.663 1.000 0.615 0.563 0.659 0.564 . 5.750 5.750 5.553 1.026 0.599 1.000 0.959 0.991 862 Mediator_complex,_subunit_Med12,_catenin-binding . . ID=COSV56379954;OCCURENCE=1(large_intestine),1(stomach) MED12L 303 0 557 95 0.145705521472393 TRUE TRUE ENSG00000183654.9 . BCM GRCh38.p13 chr5 16067749 16067749 + G G A Missense_Mutation SNP ENST00000332432.9 exon4 c.C931T p.R311C exonic ENSG00000183654.9 . nonsynonymous SNV ENSG00000183654.9:ENST00000332432.9:exon4:c.C931T:p.R311C 5p15.1 C3N-03840 . . . . . . . . rs921889840 15.20 D D D D D D L T D 0.872 T T D 0.516 0.660 0.861 1.329 D T D D D D 4.392 31 0.999 D D 0.802 8.814 0.790 9.825 1.000 0.554 0.489 0.602 0.564 . 5.540 5.540 6.076 1.176 0.676 1.000 0.998 0.996 862 . . . ID=COSV60127080;OCCURENCE=1(large_intestine) MARCHF11 176 0 301 38 0.112094395280236 TRUE TRUE ENSG00000106113.19 . BCM GRCh38.p13 chr7 30655074 30655074 + A A G Missense_Mutation SNP ENST00000471646.6 exon11 c.T1060C p.F354L exonic ENSG00000106113.19 . nonsynonymous SNV ENSG00000106113.19:ENST00000471646.6:exon11:c.T1060C:p.F354L 7p14.3 C3N-03840 . . . . . . . . . 11.20 D T D P D D L T N 0.904 T T T 0.308 0.684 0.604 0.440 D T D D D D 3.894 26.300 0.998 D D 0.458 4.724 0.527 5.413 1.000 0.554 0.588 0.602 0.568 . 5.290 5.290 8.746 1.207 0.756 1.000 0.998 0.989 695 GPCR,_family_2-like;GPCR,_family_2,_secretin-like,_conserved_site . . . CRHR2 165 0 334 33 0.0899182561307902 TRUE TRUE ENSG00000165124.18 . BCM GRCh38.p13 chr9 110406671 110406671 + G G A Missense_Mutation SNP ENST00000374469.6 exon38 c.C8929T p.P2977S exonic ENSG00000165124.18 . nonsynonymous SNV ENSG00000165124.18:ENST00000374469.6:exon38:c.C8929T:p.P2977S 9q31.3 C3N-03840 . . . . . . . . . 2.20 T T B B N N L T D 0.150 T T T 0.131 0.569 0.155 0.104 T T T T T T 1.701 17.030 0.913 D N -0.542 1.095 -0.454 1.278 0.000 0.554 0.563 0.618 0.564 . 5.570 -1.070 1.361 0.161 0.616 1.000 0.995 0.998 969 Sushi/SCR/CCP_domain . . . SVEP1 181 0 367 41 0.100490196078431 TRUE TRUE ENSG00000136848.17 . BCM GRCh38.p13 chr9 121772954 121772954 + C C T Missense_Mutation SNP ENST00000408936.7 exon12 c.C2426T p.T809I exonic ENSG00000136848.17 . nonsynonymous SNV ENSG00000136848.17:ENST00000408936.7:exon12:c.C2426T:p.T809I 9q33.2 C3N-03840 . . . . . . . . . 10.20 D T P P D D M T N 0.567 T T D 0.135 0.224 0.196 0.418 D T T T D D 2.254 21.300 0.998 D D 0.334 3.958 0.383 4.239 1.000 0.696 0.610 0.723 0.636 . 4.690 4.690 7.347 1.026 0.599 1.000 0.997 0.985 950 Domain_of_unknown_function_DUF3498 . . . DAB2IP 68 0 108 17 0.136 TRUE TRUE ENSG00000099834.19 . BCM GRCh38.p13 chr11 621349 621349 + A A G Missense_Mutation SNP ENST00000397542.7 exon6 c.T614C p.V205A exonic ENSG00000099834.19 . nonsynonymous SNV ENSG00000099834.19:ENST00000397542.7:exon6:c.T614C:p.V205A 11p15.5 C3N-03840 . . . . . . . . . 0.20 T T B B N N N T N 0.391 T T T 0.223 0.681 0.014 0.048 T T T T T T -0.192 0.532 0.658 N N -1.477 0.089 -1.415 0.144 0.961 0.581 0.759 0.537 0.605 . 4.190 -2.220 -0.631 -1.567 -2.049 0.000 0.040 0.003 929 Cadherin-like . . . CDHR5 123 0 235 26 0.0996168582375479 TRUE TRUE ENSG00000149311.18 . BCM GRCh38.p13 chr11 108353856 108353856 + C C G Missense_Mutation SNP ENST00000278616.8 exon60 c.C8762G p.T2921R exonic ENSG00000149311.18 . nonsynonymous SNV ENSG00000149311.18:ENST00000278616.8:exon60:c.C8762G:p.T2921R 11q22.3 C3N-03840 . . . . . . . . . 19.20 D D D D D D M T D 0.973 D D D 0.824 0.711 0.959 0.620 D D D D D D 4.034 27.200 0.993 D D 0.931 11.891 0.871 12.581 1.000 0.707 0.725 0.725 0.714 . 5.420 5.420 7.900 1.026 0.599 1.000 0.986 0.955 193 Phosphatidylinositol_3-/4-kinase,_catalytic_domain . . . ATM 397 0 578 68 0.105263157894737 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-03840 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 248 0 386 56 0.126696832579186 TRUE TRUE ENSG00000156222.12 . BCM GRCh38.p13 chr15 84943464 84943464 + C C T Missense_Mutation SNP ENST00000394573.6 exon16 c.C1601T p.T534M exonic ENSG00000156222.12 . nonsynonymous SNV ENSG00000156222.12:ENST00000394573.6:exon16:c.C1601T:p.T534M 15q25.3 C3N-03840 4.119e-05 0 8.643e-05 0 0 5.994e-05 0 0 rs145160651 10.20 D D D D D D L T D 0.751 T T T 0.170 . 0.480 0.423 T T T T T D 3.441 24.500 0.997 D D -0.161 1.989 -0.246 1.679 0.950 0.554 0.590 0.618 0.567 . 4.200 2.290 2.931 1.006 0.599 0.987 0.544 0.147 628 Concentrative_nucleoside_transporter_C-terminal_domain . . . SLC28A1 384 1 674 66 0.0891891891891892 TRUE NA ENSG00000162039.15 . BCM GRCh38.p13 chr16 1844951 1844951 + G G A Missense_Mutation SNP ENST00000397344.7 exon10 c.C791T p.A264V exonic ENSG00000162039.15 . nonsynonymous SNV ENSG00000162039.15:ENST00000397344.7:exon10:c.C791T:p.A264V 16p13.3 C3N-03840 . . . . . . . . . 14.20 D D D D D D M T D 0.681 T T T 0.324 0.539 0.227 . T T D D D D 3.681 25.300 0.999 D D 0.786 8.510 0.758 8.991 0.999 0.554 0.574 0.618 0.542 . 5.980 5.980 5.978 1.155 0.616 1.000 0.987 0.908 641 . . . . MEIOB 36 0 70 7 0.0909090909090909 TRUE TRUE ENSG00000006788.14 . BCM GRCh38.p13 chr17 10318992 10318992 + C C T Missense_Mutation SNP ENST00000252172.9 exon27 c.G3536A p.R1179H exonic ENSG00000006788.14 . nonsynonymous SNV ENSG00000006788.14:ENST00000252172.9:exon27:c.G3536A:p.R1179H 17p13.1 C3N-03840 2.471e-05 9.614e-05 0 0 0 2.997e-05 0 0 rs369467746 16.19 D D D D . D H D D 0.725 D D T 0.555 . 0.877 0.475 T D T D D D 3.867 26.200 0.999 D D 0.711 7.281 0.571 5.880 0.131 0.487 0.547 0.492 0.564 . 4.050 3.060 6.142 1.022 0.545 1.000 0.981 0.983 86 Myosin_tail . . ID=COSV52840316;OCCURENCE=1(skin) MYH13 516 0 915 89 0.0886454183266932 NA TRUE ENSG00000276234.5 . BCM GRCh38.p13 chr17 37476891 37476891 + C C T Missense_Mutation SNP ENST00000615182.5 exon16 c.C1241T p.A414V exonic ENSG00000276234.5 . nonsynonymous SNV ENSG00000276234.5:ENST00000615182.5:exon16:c.C1241T:p.A414V 17q12 C3N-03840 8.238e-06 0 0 0.0001 0 0 0 0 rs748285471 7.14 . D . . D D . . . 0.567 T T T 0.283 0.531 0.662 . T T T T D D 3.969 26.800 0.999 D D 0.880 10.541 0.860 12.141 1.000 0.731 0.725 0.725 0.649 . 5.930 5.930 7.715 1.026 0.599 1.000 0.999 0.970 53 SWIRM_domain . . . TADA2A 115 0 200 15 0.0697674418604651 TRUE NA ENSG00000120071.14 . BCM GRCh38.p13 chr17 46034185 46034185 + - NA GCAGTTTCTCTAC Frame_Shift_Ins INS ENST00000432791.6 exon11 c.2641_2642insGTAGAGAAACTGC p.Q881Rfs*18 exonic ENSG00000120071.14 . frameshift insertion ENSG00000120071.14:ENST00000432791.6:exon11:c.2641_2642insGTAGAGAAACTGC:p.Q881Rfs*18 17q21.31 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANSL1 NA NA NA NA NA NA NA ENSG00000141367.12 . BCM GRCh38.p13 chr17 59693805 59693805 + G G A Missense_Mutation SNP ENST00000269122.8 exon32 c.G4981A p.A1661T exonic ENSG00000141367.12 . nonsynonymous SNV ENSG00000141367.12:ENST00000269122.8:exon32:c.G4981A:p.A1661T 17q23.1 C3N-03840 . . . . . . . . . 9.20 T T D P D D M T N 0.683 T T T 0.220 0.204 0.551 1.401 D T T T D D 2.582 22.600 0.926 D D 0.598 5.902 0.678 7.356 1.000 0.672 0.702 0.702 0.711 . 5.910 5.910 7.922 1.176 0.676 1.000 1.000 0.967 569 . . . ID=COSV52244627;OCCURENCE=2(large_intestine) CLTC 125 1 256 15 0.0553505535055351 TRUE TRUE ENSG00000130402.12 . BCM GRCh38.p13 chr19 38729362 38729362 + C C T Missense_Mutation SNP ENST00000252699.7 exon21 c.C2666T p.P889L exonic ENSG00000130402.12 . nonsynonymous SNV ENSG00000130402.12:ENST00000252699.7:exon21:c.C2666T:p.P889L 19q13.2 C3N-03840 . . . . . . . . . 11.19 D D B B D D M T D 0.484 T T D 0.316 0.674 0.806 1.049 T D T T D . 2.446 22.300 0.992 D D -0.078 2.245 -0.087 2.085 1.000 0.672 0.702 0.607 0.711 . 3.480 3.480 3.861 1.026 0.599 0.996 0.162 0.021 707 EF-hand,_Ca_insensitive . . . ACTN4 383 0 711 77 0.0977157360406091 TRUE TRUE ENSG00000128011.4 . BCM GRCh38.p13 chr19 39308036 39308036 + A A G Missense_Mutation SNP ENST00000248668.4 exon2 c.T1913C p.V638A exonic ENSG00000128011.4 . nonsynonymous SNV ENSG00000128011.4:ENST00000248668.4:exon2:c.T1913C:p.V638A 19q13.2 C3N-03840 . . . . . . . . . 1.20 T T B B N N N T N 0.023 T T D 0.023 0.372 0.185 . T T T T T T 0.071 1.842 0.582 N N -1.290 0.170 -1.305 0.206 1.000 0.726 0.588 0.594 0.621 . 4.070 -0.716 -0.863 0.241 0.636 0.000 0.011 0.088 560 . . . . LRFN1 46 0 78 11 0.123595505617978 TRUE TRUE ENSG00000242019.1 . BCM GRCh38.p13 chr19 54727671 54727671 + C C T Missense_Mutation SNP ENST00000291860.1 exon4 c.C416T p.T139M exonic ENSG00000242019.1 . nonsynonymous SNV ENSG00000242019.1:ENST00000291860.1:exon4:c.C416T:p.T139M 19q13.42 C3N-03840 3.823e-05 0.0002 0 0 0 3.157e-05 0 0 rs544733307 2.15 T D . . N N . T D 0.129 T T T 0.111 0.367 0.043 1.964 T . T T T . -1.144 0.003 0.755 N N -1.171 0.248 -1.464 0.122 0.000 0.487 0.574 0.574 0.564 . 1.500 -3.010 -2.607 -2.491 -2.345 0.000 0.000 0.000 952 Immunoglobulin_subtype . . ID=COSV52546043;OCCURENCE=1(breast),1(ovary) KIR3DL3 226 0 365 89 0.196035242290749 TRUE TRUE ENSG00000215595.2 . BCM GRCh38.p13 chr20 1207085 1207085 + C C T Nonsense_Mutation SNP ENST00000400633.2 exon2 c.C352T p.R118X exonic ENSG00000215595.2 . stopgain ENSG00000215595.2:ENST00000400633.2:exon2:c.C352T:p.R118X 20p13 C3N-03840 8.737e-05 0 0 0 0 0.0002 0 0 rs181425626 3.5 . . . . . N . . . 0.127 . . . . . . . . . D D . . 7.387 38 0.997 D N 0.634 6.293 0.458 4.798 0.991 0.554 0.563 0.602 0.530 . 3.760 3.760 0.647 0.097 -0.233 0.961 0.997 0.966 922 . . . ID=COSV68763753;OCCURENCE=1(large_intestine),1(prostate) C20orf202 56 0 94 6 0.06 TRUE TRUE ENSG00000198646.14 . BCM GRCh38.p13 chr20 34749420 34749420 + - NA T Frame_Shift_Ins INS ENST00000359003.7 exon9 c.2774dupA p.N925Kfs*2 exonic ENSG00000198646.14 . frameshift insertion ENSG00000198646.14:ENST00000359003.7:exon9:c.2774dupA:p.N925Kfs*2 20q11.22 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCOA6 NA NA NA NA NA NA NA ENSG00000100393.14 . BCM GRCh38.p13 chr22 41117357 41117357 + A A G Missense_Mutation SNP ENST00000263253.9 exon2 c.A265G p.S89G exonic ENSG00000100393.14 . nonsynonymous SNV ENSG00000100393.14:ENST00000263253.9:exon2:c.A265G:p.S89G 22q13.2 C3N-03840 . . . . . . . . . 14.20 D T D P D D M D N 0.578 D D D 0.371 0.152 0.817 . T D D T D D 3.660 25.300 0.998 D N 0.663 6.630 0.681 7.417 1.000 0.707 0.696 0.702 0.714 . 5.990 5.990 5.848 1.312 0.756 1.000 1.000 0.999 296 . . . . EP300 320 0 548 55 0.0912106135986733 TRUE TRUE ENSG00000169306.10 . BCM GRCh38.p13 chrX 29955440 29955440 + C C A Missense_Mutation SNP ENST00000378993.6 exon11 c.C1711A p.Q571K exonic ENSG00000169306.10 . nonsynonymous SNV ENSG00000169306.10:ENST00000378993.6:exon11:c.C1711A:p.Q571K Xp21.2 C3N-03840 1.161e-05 0 0 0 0 0 0 0.0001 rs756892831 5.19 T T B B D D L T N 0.134 T T D 0.115 0.495 0.490 1.102 T T T T T D 2.161 20.600 0.958 D . . . . . 1.000 . . . . . 5.250 5.250 7.568 1.026 0.599 1.000 1.000 0.999 491 . . . ID=COSV100148575;OCCURENCE=1(lung) IL1RAPL1 265 0 418 36 0.079295154185022 TRUE NA ENSG00000118997.14 . BCM GRCh38.p13 chr2 195875805 195875805 + C C T Silent SNP ENST00000312428.11 exon38 c.G6156A p.E2052E exonic ENSG00000118997.14 . synonymous SNV ENSG00000118997.14:ENST00000312428.11:exon38:c.G6156A:p.E2052E 2q32.3 C3N-03840 8.374e-06 0.0001 0 0 0 0 0 0 rs370194780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH7 90 0 163 22 0.118918918918919 TRUE NA ENSG00000163781.14 . BCM GRCh38.p13 chr3 133608583 133608583 + C C T Silent SNP ENST00000260810.10 exon27 c.G4377A p.Q1459Q exonic ENSG00000163781.14 . synonymous SNV ENSG00000163781.14:ENST00000260810.10:exon27:c.G4377A:p.Q1459Q 3q22.1 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99604876;OCCURENCE=1(cervix) TOPBP1 153 1 249 30 0.10752688172043 TRUE TRUE ENSG00000083857.14 . BCM GRCh38.p13 chr4 186603312 186603312 + G G A Silent SNP ENST00000441802.7 exon19 c.C11214T p.C3738C exonic ENSG00000083857.14 . synonymous SNV ENSG00000083857.14:ENST00000441802.7:exon19:c.C11214T:p.C3738C 4q35.2 C3N-03840 8.299e-06 0 0 0 0 0 0 6.066e-05 rs562587924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT1 336 1 645 63 0.0889830508474576 TRUE NA ENSG00000176788.9 . BCM GRCh38.p13 chr5 17275786 17275786 + G G A Silent SNP ENST00000322611.4 exon2 c.G570A p.T190T exonic ENSG00000176788.9 . synonymous SNV ENSG00000176788.9:ENST00000322611.4:exon2:c.G570A:p.T190T 5p15.1 C3N-03840 2.755e-05 0 0.0003 0 0 0 0 0 rs759514967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BASP1 181 0 281 36 0.113564668769716 TRUE NA ENSG00000261150.3 . BCM GRCh38.p13 chr8 143871037 143871037 + G G A Silent SNP ENST00000615648.2 exon2 c.C2217T p.P739P exonic ENSG00000261150.3 . synonymous SNV ENSG00000261150.3:ENST00000615648.2:exon2:c.C2217T:p.P739P 8q24.3 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPPK1 277 0 528 64 0.108108108108108 TRUE NA ENSG00000167566.17 . BCM GRCh38.p13 chr12 49796465 49796465 + C C T Silent SNP ENST00000335999.7 exon8 c.G1395A p.S465S exonic ENSG00000167566.17 . synonymous SNV ENSG00000167566.17:ENST00000335999.7:exon8:c.G1395A:p.S465S 12q13.12 C3N-03840 1.297e-05 0.0002 0 0 0 0 0 0 rs548007920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCKAP5L 21 0 40 7 0.148936170212766 TRUE NA ENSG00000186184.19 . BCM GRCh38.p13 chr13 27622007 27622007 + G G A Silent SNP ENST00000302979.5 exon1 c.G24A p.E8E exonic ENSG00000186184.19 . synonymous SNV ENSG00000186184.19:ENST00000302979.5:exon1:c.G24A:p.E8E 13q12.2 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POLR1D 304 0 509 49 0.0878136200716846 TRUE NA ENSG00000103184.12 . BCM GRCh38.p13 chr16 5008549 5008549 + C C T Silent SNP ENST00000251170.12 exon14 c.C1701T p.T567T exonic ENSG00000103184.12 . synonymous SNV ENSG00000103184.12:ENST00000251170.12:exon14:c.C1701T:p.T567T 16p13.3 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC14L5 105 0 216 24 0.1 TRUE TRUE ENSG00000157423.18 . BCM GRCh38.p13 chr16 70920906 70920906 + C C T Silent SNP ENST00000393567.7 exon46 c.G7470A p.A2490A exonic ENSG00000157423.18 . synonymous SNV ENSG00000157423.18:ENST00000393567.7:exon46:c.G7470A:p.A2490A 16q22.2 C3N-03840 4.761e-05 0 0 0 0 3.469e-05 0 0.0002 rs1798530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99992190;OCCURENCE=1(large_intestine),1(endometrium) HYDIN 213 0 372 35 0.085995085995086 NA TRUE ENSG00000166377.20 . BCM GRCh38.p13 chr18 79277180 79277180 + A A G Silent SNP ENST00000426216.6 exon13 c.A1395G p.L465L exonic ENSG00000166377.20 . synonymous SNV ENSG00000166377.20:ENST00000426216.6:exon13:c.A1395G:p.L465L 18q23 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP9B 131 0 172 28 0.14 TRUE TRUE ENSG00000198646.14 . BCM GRCh38.p13 chr20 34749618 34749618 + T T G Silent SNP ENST00000359003.7 exon9 c.A2577C p.G859G exonic ENSG00000198646.14 . synonymous SNV ENSG00000198646.14:ENST00000359003.7:exon9:c.A2577C:p.G859G 20q11.22 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCOA6 118 1 205 32 0.135021097046413 TRUE NA ENSG00000149527.18 . BCM GRCh38.p13 chr1 2502416 2502416 + C C T Intron SNP NA NA NA NA intronic ENSG00000149527.18 . . . 1p36.32 C3N-03840 . . . . . . . . . 2.15 T T B B . D . T N 0.112 T T D 0.015 0.183 0.061 0.233 . . T T T . 0.147 2.540 0.980 N N -1.103 0.304 -1.127 0.348 0.801 0.421 0.551 0.514 0.563 . 4.370 1.330 0.266 -0.240 -0.254 0.037 0.140 0.129 829 . . . ID=COSV53939907;OCCURENCE=1(large_intestine) PLCH2 315 0 574 68 0.105919003115265 TRUE NA ENSG00000073737.16 . BCM GRCh38.p13 chr2 169067238 169067238 + A A T Intron SNP NA NA NA NA intronic ENSG00000073737.16 . . . 2q31.1 C3N-03840 . . . . . . . . . 3.13 D . . . . N . D N 0.164 T T D 0.134 0.280 0.287 . . . T T T T 0.943 10.920 0.846 N N -1.065 0.339 -1.150 0.327 1.000 0.487 0.574 0.492 0.613 . 3.350 0.807 0.380 0.283 -0.100 0.000 0.006 0.004 810 . . . . DHRS9 147 0 283 32 0.101587301587302 TRUE TRUE ENSG00000181001.2 . BCM GRCh38.p13 chr11 5796581 5796581 + C C T IGR SNP NA NA NA NA intergenic ENSG00000181001.2;ENSG00000236965.4 dist=5316;dist=3783 . . 11p15.4 C3N-03840 . . . . . . . . rs945377486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66206099;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) OR52N1 318 0 533 52 0.0888888888888889 TRUE NA ENSG00000170004.17 . BCM GRCh38.p13 chr17 7910425 7910425 + C C T Intron SNP NA NA NA NA intronic ENSG00000170004.17 . . . 17p13.1 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHD3 470 0 798 89 0.100338218714769 TRUE NA ENSG00000225950.8 . BCM GRCh38.p13 chr19 49061364 49061364 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000225950.8 ENST00000593537.1:c.*1G>A . . 19q13.33 C3N-03840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NTF4 246 0 476 45 0.0863723608445297 TRUE NA ENSG00000163554.15 . BCM GRCh38.p13 chr1 158647692 158647692 + C C T Missense_Mutation SNP ENST00000643759.2 exon27 c.G3743A p.R1248Q exonic ENSG00000163554.15 . nonsynonymous SNV ENSG00000163554.15:ENST00000643759.2:exon27:c.G3743A:p.R1248Q 1q23.1 C3L-02606 1.664e-05 0 0.0002 0 0 0 0 0 rs568044940 12.20 D D D D N D M T D 0.322 T T D 0.219 0.419 0.775 0.050 T T T T D D 3.106 23.600 0.999 D D 0.263 3.596 0.101 2.739 1.000 0.554 0.547 0.574 0.621 . 4.710 3.800 4.761 1.026 0.599 1.000 0.174 0.606 603 . . . ID=COSV63753987;OCCURENCE=1(large_intestine) SPTA1 196 0 416 73 0.149284253578732 TRUE TRUE ENSG00000135835.12 . BCM GRCh38.p13 chr1 180935272 180935272 + G G T Nonsense_Mutation SNP ENST00000367588.9 exon5 c.G1363T p.E455X exonic ENSG00000135835.12 . stopgain ENSG00000135835.12:ENST00000367588.9:exon5:c.G1363T:p.E455X 1q25.3 C3L-02606 . . . . . . . . . 5.6 . . . . D A . . . 0.190 . . . . . . . . . D D . . 7.274 37 0.997 D N 0.900 11.046 0.697 7.693 1.000 0.609 0.492 0.769 0.568 . 4.830 4.830 7.054 1.172 0.674 1.000 0.926 0.423 865 Domain_of_unknown_function_DUF4685 . . . KIAA1614 18 0 56 5 0.0819672131147541 TRUE TRUE ENSG00000162951.11 . BCM GRCh38.p13 chr2 80303720 80303720 + C C T Missense_Mutation SNP ENST00000295057.4 exon2 c.G100A p.A34T exonic ENSG00000162951.11 . nonsynonymous SNV ENSG00000162951.11:ENST00000295057.4:exon2:c.G100A:p.A34T 2p12 C3L-02606 . . . . . . . . . 5.20 D T P B U D N T N 0.355 T T D 0.089 0.227 0.307 . T T T T T T 2.393 22.100 0.984 D D 0.023 2.595 0.054 2.554 1.000 0.497 0.590 0.504 0.563 . 4.650 4.650 3.398 1.010 0.529 1.000 1.000 0.998 948 . . . ID=COSV99703402;OCCURENCE=1(stomach) LRRTM1 44 0 145 26 0.152046783625731 TRUE NA ENSG00000239305.7 . BCM GRCh38.p13 chr2 86604703 86604703 + T T C Missense_Mutation SNP ENST00000237455.5 exon4 c.A1198G p.T400A exonic ENSG00000239305.7 . nonsynonymous SNV ENSG00000239305.7:ENST00000237455.5:exon4:c.A1198G:p.T400A 2p11.2 C3L-02606 . . . . . . . . . 12.20 D T D D D D L T N 0.838 T T D 0.306 0.346 0.643 0.767 T T D D D D 3.809 25.900 0.993 D D 0.723 7.453 0.721 8.158 1.000 0.707 0.725 0.659 0.714 . 5.590 5.590 7.722 1.138 0.609 1.000 1.000 0.997 603 . . . ID=COSV52896064;OCCURENCE=1(endometrium) RNF103 220 0 338 77 0.185542168674699 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178587208 178587208 + C C T Missense_Mutation SNP ENST00000591111.5 exon257 c.G59080A p.E19694K exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon257:c.G59080A:p.E19694K 2q31.2 C3L-02606 8.29e-06 0.0001 0 0 0 0 0 0 rs773791222 9.17 D . D D . D L T D 0.814 T T T 0.362 . 0.315 0.489 T . T T D D 3.323 24.200 0.993 D D 0.751 7.893 0.782 9.603 1.000 0.476 0.602 0.547 0.504 . 5.980 5.980 6.106 1.026 0.599 1.000 1.000 0.999 405 Fibronectin_type_III . . . TTN 365 1 722 164 0.18510158013544 TRUE NA ENSG00000206557.6 . BCM GRCh38.p13 chr3 32818300 32818300 + C C T Missense_Mutation SNP ENST00000383763.6 exon1 c.C220T p.R74W exonic ENSG00000206557.6 . nonsynonymous SNV ENSG00000206557.6:ENST00000383763.6:exon1:c.C220T:p.R74W 3p22.3 C3L-02606 . . . . . . . . . 9.20 D D D P U D N D N 0.502 T T D 0.436 0.703 0.282 0.993 D T T T D T 3.915 26.400 0.995 D N -0.035 2.390 -0.035 2.242 1.000 0.598 0.492 0.391 0.639 . 4.010 1.970 1.263 0.853 0.500 1.000 0.999 0.931 735 Zinc_finger,_RING-type . . . TRIM71 192 0 320 87 0.213759213759214 TRUE TRUE ENSG00000182168.15 . BCM GRCh38.p13 chr4 95242515 95242515 + G G A Missense_Mutation SNP ENST00000453304.6 exon7 c.C1022T p.T341M exonic ENSG00000182168.15 . nonsynonymous SNV ENSG00000182168.15:ENST00000453304.6:exon7:c.C1022T:p.T341M 4q22.3 C3L-02606 1.842e-05 0 0 0 0 3.371e-05 0 0 rs775796452 8.20 T T D P N D M T D 0.343 T T D 0.184 . 0.856 0.237 T T T T D D 2.858 23.100 0.992 D N 0.293 3.746 0.317 3.816 0.998 0.554 0.574 0.618 0.621 . 5.100 5.100 1.734 1.176 0.676 0.970 0.526 0.470 567 . . . ID=COSV71661666;OCCURENCE=3(large_intestine),1(stomach) UNC5C 115 0 296 27 0.0835913312693498 TRUE TRUE ENSG00000255408.4 . BCM GRCh38.p13 chr5 140801300 140801300 + G G A Missense_Mutation SNP ENST00000522353.3 exon1 c.G103A p.V35I exonic ENSG00000255408.4 . nonsynonymous SNV ENSG00000255408.4:ENST00000522353.3:exon1:c.G103A:p.V35I 5q31.3 C3L-02606 . . . . . . . . . 1.19 T T P B N D N T N 0.121 T T T 0.064 0.594 0.145 . . T T T T T 1.438 15.340 0.840 N N -0.759 0.717 -0.817 0.734 0.908 0.534 0.574 0.686 0.555 . 4.650 1.870 0.019 0.210 0.618 0.001 0.015 0.153 18 Cadherin,_N-terminal . . ID=COSV65366871;OCCURENCE=1(breast),1(large_intestine) PCDHA3 317 0 644 87 0.119015047879617 NA TRUE ENSG00000204965.9 . BCM GRCh38.p13 chr5 140823693 140823693 + G G A Missense_Mutation SNP ENST00000529859.2 exon1 c.G1918A p.E640K exonic ENSG00000204965.9 . nonsynonymous SNV ENSG00000204965.9:ENST00000529859.2:exon1:c.G1918A:p.E640K 5q31.3 C3L-02606 . . . . . . . . . 8.18 D D P B . D L T D 0.201 T T D 0.233 0.762 0.769 0.427 . T T T D T 2.951 23.300 0.999 D D 0.251 3.534 0.315 3.808 1.000 0.581 0.574 0.576 0.542 . 4.010 4.010 4.545 1.072 0.522 0.998 0.435 0.041 28 Cadherin-like . . . PCDHA5 314 0 629 59 0.0857558139534884 TRUE TRUE ENSG00000253731.3 . BCM GRCh38.p13 chr5 141375105 141375105 + A A G Missense_Mutation SNP ENST00000517434.3 exon1 c.A1022G p.N341S exonic ENSG00000253731.3 . nonsynonymous SNV ENSG00000253731.3:ENST00000517434.3:exon1:c.A1022G:p.N341S 5q31.3 C3L-02606 4.975e-05 0 0 0.0007 0 0 0 0 rs371346343 16.19 D D D D U D H D D 0.799 D D D 0.787 0.734 0.987 0.862 . T T D D D 4.007 27.000 0.999 D D 1.027 14.785 0.933 15.260 1.000 0.554 0.588 0.576 0.621 . 5.250 5.250 9.325 1.312 0.756 1.000 1.000 0.999 651 Cadherin-like . . ID=COSV54018804;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) PCDHGA6 251 0 495 82 0.1421143847487 TRUE TRUE ENSG00000086570.12 . BCM GRCh38.p13 chr5 151565735 151565735 + T T G Missense_Mutation SNP ENST00000261800.5 exon1 c.A3197C p.E1066A exonic ENSG00000086570.12 . nonsynonymous SNV ENSG00000086570.12:ENST00000261800.5:exon1:c.A3197C:p.E1066A 5q33.1 C3L-02606 . . . . . . . . . 6.20 D T P P D D L T D 0.562 T T T 0.110 0.417 0.655 0.371 T T T T D T 3.731 25.500 0.994 D N 0.320 3.883 0.346 3.996 1.000 0.487 0.590 0.574 0.542 . 5.160 3.920 3.155 1.138 0.665 0.998 0.973 0.838 903 Cadherin-like . . . FAT2 132 0 327 27 0.076271186440678 TRUE TRUE ENSG00000168269.10 . BCM GRCh38.p13 chr5 170106177 170106177 + C C G Missense_Mutation SNP ENST00000306268.8 exon1 c.C220G p.P74A exonic ENSG00000168269.10 . nonsynonymous SNV ENSG00000168269.10:ENST00000306268.8:exon1:c.C220G:p.P74A 5q35.1 C3L-02606 . . . . . . . . . 12.20 D T B B D D M D D 0.363 D D D 0.312 0.320 0.928 0.267 T D T T D T 1.416 15.190 0.994 D N -0.225 1.808 -0.165 1.871 0.997 0.497 0.590 0.578 0.613 . 5.060 4.170 2.690 1.026 0.549 0.978 0.629 0.032 952 . . . . FOXI1 68 0 243 18 0.0689655172413793 TRUE TRUE ENSG00000145982.13 . BCM GRCh38.p13 chr6 5368853 5368853 + G G A Missense_Mutation SNP ENST00000274680.9 exon2 c.G283A p.E95K exonic ENSG00000145982.13 . nonsynonymous SNV ENSG00000145982.13:ENST00000274680.9:exon2:c.G283A:p.E95K 6p25.1 C3L-02606 . . . . . . . . . 5.20 T T B B N D L T N 0.228 T T T 0.062 0.495 0.680 0.177 T T T T D D 2.288 21.500 0.996 D D -0.271 1.687 -0.113 2.012 0.060 0.706 0.725 0.710 0.714 . 5.330 2.300 4.417 1.176 0.676 1.000 1.000 0.973 944 Phenylalanyl-tRNA_synthetase . . ID=COSV104571843;OCCURENCE=1(skin) FARS2 417 0 872 153 0.149268292682927 TRUE TRUE ENSG00000106327.13 . BCM GRCh38.p13 chr7 100627296 100627296 + C C T Missense_Mutation SNP ENST00000223051.8 exon16 c.G1963A p.G655R exonic ENSG00000106327.13 . nonsynonymous SNV ENSG00000106327.13:ENST00000223051.8:exon16:c.G1963A:p.G655R 7q22.1 C3L-02606 . . . . . . . . rs920217192 6.20 T T D P N D N T N 0.529 T T D 0.234 0.529 0.718 1.099 T T T T D T 3.070 23.600 0.997 D D 0.152 3.096 0.233 3.351 1.000 0.658 0.435 0.619 0.555 . 5.320 5.320 2.042 0.129 0.599 1.000 0.930 0.944 707 . . . . TFR2 270 1 766 120 0.135440180586907 TRUE NA ENSG00000169871.13 . BCM GRCh38.p13 chr7 101088439 101088441 + AGA AGA - In_Frame_Del DEL ENST00000306085.11 exon3 c.1127_1129del p.K377del exonic ENSG00000169871.13 . nonframeshift deletion ENSG00000169871.13:ENST00000306085.11:exon3:c.1127_1129del:p.K377del 7q22.1 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM56 96 0 222 22 0.0901639344262295 TRUE TRUE ENSG00000137563.12 . BCM GRCh38.p13 chr8 63017526 63017526 + C C T Missense_Mutation SNP ENST00000260118.7 exon8 c.G802A p.A268T exonic ENSG00000137563.12 . nonsynonymous SNV ENSG00000137563.12:ENST00000260118.7:exon8:c.G802A:p.A268T 8q12.3 C3L-02606 8.264e-06 0 0 0.0001 0 0 0 0 rs554949020 2.20 T T P B D D L T N 0.422 T T T 0.123 0.436 0.439 0.124 T T T T T T 2.114 20.200 0.967 N N -0.217 1.829 -0.107 2.026 0.332 0.732 0.744 0.710 0.728 . 5.680 3.640 1.016 0.074 0.599 0.584 0.996 0.994 921 . . . ID=COSV99479016;OCCURENCE=1(endometrium) GGH 106 0 293 54 0.155619596541787 TRUE NA ENSG00000147852.16 . BCM GRCh38.p13 chr9 2646549 2646549 + C C T Missense_Mutation SNP ENST00000382100.8 exon11 c.C1700T p.S567F exonic ENSG00000147852.16 . nonsynonymous SNV ENSG00000147852.16:ENST00000382100.8:exon11:c.C1700T:p.S567F 9p24.2 C3L-02606 8.465e-06 0 0 0 0 1.536e-05 0 0 rs769791140 19.20 D D D D D D M D D 0.842 D D D 0.721 0.478 0.879 0.536 D T D D D D 3.726 25.500 0.998 D D 0.738 7.682 0.683 7.442 1.000 0.672 0.588 0.702 0.621 . 5.470 5.470 4.915 1.026 0.599 1.000 0.919 0.957 699 . . . . VLDLR 355 0 697 109 0.135235732009926 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971187 21971187 + G G A Nonsense_Mutation SNP ENST00000304494.9 exon2 c.C172T p.R58X exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon2:c.C172T:p.R58X 9p21.3 C3L-02606 . . . . . . . . rs121913387 4.15 D T . . N D . T D 0.185 T T . 0.220 . 0.879 . . T T T D T 5.550 34 0.997 N N -0.315 1.578 -0.449 1.286 1.000 0.677 0.383 0.608 0.601 . 5.790 2.710 -0.135 1.176 0.676 0.000 0.031 0.057 900 . . . ID=COSV58682666;OCCURENCE=1(salivary_gland),3(breast),9(penis),1(peritoneum),5(liver),18(oesophagus),1(cervix),8(vulva),6(ovary),17(NS),4(haematopoietic_and_lymphoid_tissue),4(stomach),4(urinary_tract),2(soft_tissue),18(pancreas),41(skin),18(lung),42(upper_aerodigestive_tract),1(thymus),1(endometrium) CDKN2A 341 0 756 130 0.146726862302483 NA TRUE ENSG00000165006.14 . BCM GRCh38.p13 chr9 34241839 34241839 + G G T Missense_Mutation SNP ENST00000297661.9 exon4 c.G814T p.D272Y exonic ENSG00000165006.14 . nonsynonymous SNV ENSG00000165006.14:ENST00000297661.9:exon4:c.G814T:p.D272Y 9p13.3 C3L-02606 . . . . . . . . . 14.20 D D D D D D L T D 0.888 T T D 0.362 0.259 0.452 . T T D D D D 4.106 27.800 0.995 D D 0.904 11.154 0.920 14.645 1.000 0.707 0.702 0.725 0.714 . 6.170 6.170 7.139 1.176 0.676 1.000 1.000 0.999 294 . . . . UBAP1 164 0 351 27 0.0714285714285714 TRUE TRUE ENSG00000198408.14 . BCM GRCh38.p13 chr10 101807869 101807869 + C C A Missense_Mutation SNP ENST00000361464.8 exon5 c.G513T p.L171F exonic ENSG00000198408.14 . nonsynonymous SNV ENSG00000198408.14:ENST00000361464.8:exon5:c.G513T:p.L171F 10q24.32 C3L-02606 . . . . . . . . . 15.19 D D D D D D . T D 0.765 T T D 0.387 0.668 0.642 1.232 D D D D D D 3.415 24.400 0.999 D N 0.765 8.126 0.700 7.748 0.999 0.707 0.725 0.725 0.714 . 5.350 5.350 1.509 0.109 0.549 1.000 1.000 0.999 492 . . . . OGA 85 1 152 11 0.0674846625766871 TRUE NA ENSG00000110321.18 . BCM GRCh38.p13 chr11 10805988 10805988 + G G A Missense_Mutation SNP ENST00000526148.5 exon4 c.C167T p.T56I exonic ENSG00000110321.18 . nonsynonymous SNV ENSG00000110321.18:ENST00000526148.5:exon4:c.C167T:p.T56I 11p15.4 C3L-02606 . . . . . . . . . 5.17 T T B B D . L T N . T T . 0.177 0.243 0.369 . . T T T D D 2.264 21.300 0.956 D D -0.061 2.302 0.156 2.977 1.000 0.722 0.672 0.699 0.639 . 5.340 5.340 6.618 1.176 0.676 1.000 1.000 1.000 619 . . . . EIF4G2 341 0 877 117 0.117706237424547 TRUE TRUE ENSG00000175264.8 . BCM GRCh38.p13 chr11 45650215 45650215 + G G A Missense_Mutation SNP ENST00000308064.7 exon4 c.C709T p.R237C exonic ENSG00000175264.8 . nonsynonymous SNV ENSG00000175264.8:ENST00000308064.7:exon4:c.C709T:p.R237C 11p11.2 C3L-02606 . . . . . . . . . 19.19 D D D D D D . D D 0.942 D D D 0.869 0.948 0.931 2.447 D D D D D D 4.417 31 0.999 D D 0.688 6.961 0.565 5.809 1.000 0.707 0.547 0.604 0.714 . 4.980 4.980 4.359 1.172 0.676 1.000 0.581 0.824 636 Sulfotransferase_domain . . ID=COSV57321999;OCCURENCE=2(large_intestine) CHST1 110 0 420 39 0.0849673202614379 TRUE TRUE ENSG00000172464.3 . BCM GRCh38.p13 chr11 56642304 56642304 + C C A Missense_Mutation SNP ENST00000544374.2 exon1 c.G136T p.V46L exonic ENSG00000172464.3 . nonsynonymous SNV ENSG00000172464.3:ENST00000544374.2:exon1:c.G136T:p.V46L 11q12.1 C3L-02606 . . . . . . . . . 0.16 . . B B N N N . . . T T T 0.078 0.239 0.270 . T T T T T T 0.500 6.501 0.949 N N -0.666 0.871 -0.494 1.211 0.000 0.487 0.574 0.574 0.564 . 5.080 4.130 -1.224 0.109 -0.220 0.000 0.921 0.529 445 . . . . OR5AP2 205 0 374 46 0.10952380952381 TRUE TRUE ENSG00000165494.11 . BCM GRCh38.p13 chr11 83157558 83157558 + T T A Missense_Mutation SNP ENST00000298281.8 exon1 c.T119A p.L40Q exonic ENSG00000165494.11 . nonsynonymous SNV ENSG00000165494.11:ENST00000298281.8:exon1:c.T119A:p.L40Q 11q14.1 C3L-02606 . . . . . . . . . 17.20 D D D D N D H T D 0.969 D D D 0.757 0.818 0.978 2.609 D T D D D D 4.393 31 0.995 D D 0.809 8.954 0.735 8.471 1.000 0.733 0.522 0.601 0.562 . 4.840 4.840 7.516 1.138 0.663 1.000 1.000 1.000 407 CID_domain . . . PCF11 294 0 614 60 0.0890207715133531 TRUE TRUE ENSG00000111713.3 . BCM GRCh38.p13 chr12 21536998 21536998 + C C T Missense_Mutation SNP ENST00000261195.3 exon16 c.G2068A p.V690I exonic ENSG00000111713.3 . nonsynonymous SNV ENSG00000111713.3:ENST00000261195.3:exon16:c.G2068A:p.V690I 12p12.1 C3L-02606 1.648e-05 0 0 0 0 0 0 0.0001 rs148461282 1.20 T T B B N N N T N 0.029 T T D 0.035 0.152 0.399 0.095 T T T T T T -0.700 0.044 0.750 N N -1.382 0.125 -1.358 0.174 0.001 0.554 0.590 0.618 0.530 . 5.460 -2.450 -0.427 -3.396 -0.843 0.000 0.000 0.531 866 . . . . GYS2 341 0 624 107 0.146374829001368 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-02606 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 267 0 531 78 0.12807881773399 TRUE TRUE ENSG00000110925.7 . BCM GRCh38.p13 chr12 51067771 51067771 + G G A Nonsense_Mutation SNP ENST00000228515.6 exon4 c.C610T p.R204X exonic ENSG00000110925.7 . stopgain ENSG00000110925.7:ENST00000228515.6:exon4:c.C610T:p.R204X 12q13.12 C3L-02606 . . . . . . . . . 5.6 . . . . D A . . . 0.387 . . . . . . . . . D D . . 6.868 36 0.997 D N 0.575 5.679 0.404 4.390 0.934 0.707 0.725 0.725 0.714 . 4.840 2.910 2.449 -0.235 0.676 0.999 0.991 0.998 183 Cysteine/serine-rich_nuclear_protein,_N-terminal_domain . . . CSRNP2 225 0 588 39 0.062200956937799 TRUE TRUE ENSG00000166226.13 . BCM GRCh38.p13 chr12 69587983 69587983 + G G A Missense_Mutation SNP ENST00000299300.11 exon5 c.G310A p.V104I exonic ENSG00000166226.13 . nonsynonymous SNV ENSG00000166226.13:ENST00000299300.11:exon5:c.G310A:p.V104I 12q15 C3L-02606 1.649e-05 0 0 0 0 2.998e-05 0 0 rs749401932 9.20 T T D D D D L T N 0.502 T D D 0.405 0.573 0.657 0.452 T T T T D T 3.484 24.700 0.997 D D 0.729 7.550 0.752 8.842 1.000 0.707 0.725 0.702 0.714 . 5.660 5.660 7.776 1.161 0.676 1.000 0.998 0.994 872 . . . ID=COSV54739289;OCCURENCE=2(large_intestine),1(stomach) CCT2 212 0 363 26 0.0668380462724936 TRUE TRUE ENSG00000133101.10 . BCM GRCh38.p13 chr13 36438693 36438693 + C C T Missense_Mutation SNP ENST00000255465.7 exon5 c.C719T p.T240M exonic ENSG00000133101.10 . nonsynonymous SNV ENSG00000133101.10:ENST00000255465.7:exon5:c.C719T:p.T240M 13q13.3 C3L-02606 2.474e-05 0 0.0002 0 0 1.499e-05 0 0 rs750419153 14.20 D D D D D D H T D 0.862 T T D 0.520 0.576 0.859 1.245 T T T D D D 3.095 23.600 0.999 D D 0.945 12.263 0.858 12.062 1.000 0.706 0.476 0.618 0.613 . 5.330 5.330 7.685 1.026 0.599 1.000 0.709 0.299 905 Cyclin,_N-terminal . . ID=COSV55222625;OCCURENCE=1(endometrium) CCNA1 248 0 631 77 0.108757062146893 TRUE TRUE ENSG00000088387.19 . BCM GRCh38.p13 chr13 98867521 98867521 + T T A Nonsense_Mutation SNP ENST00000652315.1 exon30 c.A3193T p.K1065X exonic ENSG00000088387.19 . stopgain ENSG00000088387.19:ENST00000652315.1:exon30:c.A3193T:p.K1065X 13q32.3 C3L-02606 . . . . . . . . . 5.6 . . . . D A . . . 0.568 . . . . . . . . . D D . . 8.923 46 0.997 D N 0.961 12.726 0.866 12.355 1.000 0.672 0.588 0.659 0.711 . 6.080 6.080 7.602 1.138 0.665 1.000 1.000 0.998 946 . . . . DOCK9 127 0 174 24 0.121212121212121 TRUE TRUE ENSG00000139880.19 . BCM GRCh38.p13 chr14 23054268 23054268 + C C T Missense_Mutation SNP ENST00000397359.7 exon6 c.G845A p.R282Q exonic ENSG00000139880.19 . nonsynonymous SNV ENSG00000139880.19:ENST00000397359.7:exon6:c.G845A:p.R282Q 14q11.2 C3L-02606 3.354e-05 0 0 0 0 1.525e-05 0 0.0002 rs764282796 1.20 T T B B N N N T N 0.226 T T T 0.060 0.509 0.545 0.421 T T T T T D 1.735 17.270 0.998 N N -0.528 1.122 -0.406 1.361 1.000 0.707 0.611 0.723 0.714 . 4.770 3.790 0.342 0.138 0.599 0.000 0.978 0.987 809 Cadherin-like . . ID=COSV52974166;OCCURENCE=1(stomach) CDH24 94 0 160 18 0.101123595505618 TRUE TRUE ENSG00000165379.13 . BCM GRCh38.p13 chr14 41887124 41887124 + G G T Missense_Mutation SNP ENST00000298119.8 exon3 c.G499T p.V167F exonic ENSG00000165379.13 . nonsynonymous SNV ENSG00000165379.13:ENST00000298119.8:exon3:c.G499T:p.V167F 14q21.1 C3L-02606 . . . . . . . . . 12.20 T D B B D D N T D 0.729 T T D 0.541 0.625 0.713 1.365 T D D D D D 3.210 23.900 0.979 D D -0.279 1.667 0.046 2.522 0.474 0.554 0.574 0.618 0.564 . 5.560 5.560 7.779 1.176 0.676 1.000 0.999 0.996 921 . . . ID=COSV53242887;OCCURENCE=1(lung) LRFN5 160 0 367 29 0.0732323232323232 TRUE TRUE ENSG00000140459.18 . BCM GRCh38.p13 chr15 74345115 74345115 + C C T Missense_Mutation SNP ENST00000268053.11 exon3 c.G554A p.R185H exonic ENSG00000140459.18 . nonsynonymous SNV ENSG00000140459.18:ENST00000268053.11:exon3:c.G554A:p.R185H 15q24.1 C3L-02606 1.648e-05 0 0 0.0001 0 0 0 6.057e-05 rs763099365 9.20 D T P B D D M T D 0.227 T T D 0.305 0.609 0.911 0.524 T T T T D D 3.188 23.800 0.998 D N 0.116 2.949 0.128 2.852 1.000 0.616 0.588 0.616 0.527 . 4.370 4.370 1.718 1.016 0.577 1.000 0.974 0.206 814 . . . ID=COSV51430559;OCCURENCE=1(liver),1(large_intestine),1(lung),1(endometrium) CYP11A1 167 1 299 32 0.0966767371601208 TRUE TRUE ENSG00000103313.12 . BCM GRCh38.p13 chr16 3249750 3249750 + C C T Missense_Mutation SNP ENST00000219596.5 exon3 c.G941A p.R314H exonic ENSG00000103313.12 . nonsynonymous SNV ENSG00000103313.12:ENST00000219596.5:exon3:c.G941A:p.R314H 16p13.3 C3L-02606 0.0001 0 0 0 0 9.296e-05 0 0.0006 rs104895204 0.20 T T B B N N N T N 0.080 T T T 0.060 . 0.454 0.144 T T T T T T -0.525 0.105 0.657 N N -1.754 0.029 -1.752 0.041 1.000 0.487 0.574 0.547 0.542 . 3.900 -1.030 -0.910 -1.001 -1.716 0.000 0.001 0.000 794 . . . ID=COSV54825955;OCCURENCE=1(oesophagus),1(large_intestine),1(endometrium) MEFV 127 1 314 29 0.0845481049562682 TRUE TRUE ENSG00000167207.13 . BCM GRCh38.p13 chr16 50710842 50710842 + C C T Missense_Mutation SNP ENST00000300589.6 exon4 c.C931T p.R311W exonic ENSG00000167207.13 . nonsynonymous SNV ENSG00000167207.13:ENST00000300589.6:exon4:c.C931T:p.R311W 16q12.1 C3L-02606 0.0005 0.0002 0.0006 0.0017 0 0.0005 0.0011 6.064e-05 rs104895427 11.20 D D D D N D M T D 0.337 T D D 0.627 . 0.937 0.498 T T T T T T 3.719 25.500 0.999 D D 0.533 5.306 0.537 5.518 1.000 0.707 0.725 0.547 0.564 . 5.620 5.620 2.880 -0.268 -0.189 1.000 0.082 0.785 701 NACHT_nucleoside_triphosphatase . . ID=COSV56049177;OCCURENCE=1(oesophagus),1(soft_tissue),1(prostate) NOD2 505 0 1194 126 0.0954545454545455 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674220 7674220 + C C T Missense_Mutation SNP ENST00000269305.8 exon7 c.G743A p.R248Q exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.G743A:p.R248Q 17p13.1 C3L-02606 5.768e-05 0 0 0.0002 0 7.493e-05 0 0 rs11540652 19.20 D D D D D A M D D 0.946 D D D 0.934 . 0.975 0.412 T D D D D D 4.282 29.400 0.999 D D 0.660 6.591 0.561 5.765 0.799 0.722 0.702 0.725 0.735 . 4.620 3.650 6.163 1.021 0.596 1.000 0.981 0.841 433 p53,_DNA-binding_domain . . ID=COSV52661580;OCCURENCE=3(salivary_gland),148(breast),3(penis),1(peritoneum),13(liver),1(genital_tract),73(oesophagus),2(adrenal_gland),1(meninges),4(cervix),277(large_intestine),71(central_nervous_system),10(biliary_tract),3(pleura),11(vulva),57(ovary),8(bone),8(NS),70(stomach),116(haematopoietic_and_lymphoid_tissue),6(soft_tissue),8(kidney),57(urinary_tract),34(pancreas),1(pituitary),23(skin),46(prostate),53(lung),18(thyroid),74(upper_aerodigestive_tract),1(testis),1(eye),1(thymus),11(small_intestine),44(endometrium) TP53 275 1 575 104 0.153166421207658 TRUE TRUE ENSG00000175832.13 . BCM GRCh38.p13 chr17 43545343 43545343 + G G A Missense_Mutation SNP ENST00000319349.10 exon3 c.C85T p.R29C exonic ENSG00000175832.13 . nonsynonymous SNV ENSG00000175832.13:ENST00000319349.10:exon3:c.C85T:p.R29C 17q21.31 C3L-02606 . . . . . . . . . 4.20 D T B B N D N T N 0.384 T T T 0.080 0.533 0.460 0.848 T T T T D T 2.991 23.400 0.991 D N -0.301 1.611 -0.133 1.955 1.000 0.652 0.749 0.522 0.562 . 5.150 2.870 0.965 0.168 0.675 0.997 0.999 0.999 489 PEA3-type_ETS-domain_transcription_factor,_N-terminal . . . ETV4 82 0 159 25 0.135869565217391 TRUE TRUE ENSG00000172421.9 . BCM GRCh38.p13 chr17 62407180 62407180 + T T C Missense_Mutation SNP ENST00000305286.7 exon8 c.T835C p.Y279H exonic ENSG00000172421.9 . nonsynonymous SNV ENSG00000172421.9:ENST00000305286.7:exon8:c.T835C:p.Y279H 17q23.2 C3L-02606 . . . . . . . . . 7.20 T D D D N D M T N 0.652 T T T 0.275 0.458 0.793 0.567 T T T T D T 3.009 23.400 0.991 D N 0.452 4.685 0.425 4.543 0.023 0.487 0.574 0.547 0.542 . 5.910 5.910 2.616 1.138 0.609 1.000 0.990 0.830 715 . . . . EFCAB3 60 0 79 20 0.202020202020202 TRUE TRUE ENSG00000159640.16 . BCM GRCh38.p13 chr17 63477197 63477197 + C C A Missense_Mutation SNP ENST00000290866.10 exon1 c.C103A p.Q35K exonic ENSG00000159640.16 . nonsynonymous SNV ENSG00000159640.16:ENST00000290866.10:exon1:c.C103A:p.Q35K 17q23.3 C3L-02606 . . . . . . . . . 2.20 T T B B N N M T N 0.206 T T D 0.090 0.522 0.498 0.116 T T T T T T 1.095 12.730 0.662 N N -0.621 0.950 -0.605 1.039 1.000 0.652 0.492 0.607 0.710 . 4.320 2.110 0.396 0.839 0.485 0.086 0.791 0.729 940 . . . . ACE 174 0 351 53 0.131188118811881 TRUE TRUE ENSG00000154263.17 . BCM GRCh38.p13 chr17 69222599 69222599 + A A - Frame_Shift_Del DEL ENST00000269081.8 exon5 c.133delT p.S45Hfs*4 exonic ENSG00000154263.17 . frameshift deletion ENSG00000154263.17:ENST00000269081.8:exon5:c.133delT:p.S45Hfs*4 17q24.3 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCA10 136 0 120 11 0.083969465648855 TRUE TRUE ENSG00000152217.19 . BCM GRCh38.p13 chr18 44953301 44953301 + C C T Missense_Mutation SNP ENST00000649279.2 exon4 c.C3961T p.R1321C exonic ENSG00000152217.19 . nonsynonymous SNV ENSG00000152217.19:ENST00000649279.2:exon4:c.C3961T:p.R1321C 18q12.3 C3L-02606 2.508e-05 0 0 0 0 4.562e-05 0 0 rs767301100 13.20 D D D D D D L T D 0.657 T T D 0.389 . 0.521 1.009 T T D D D D 4.051 27.400 0.999 D N 0.606 5.980 0.650 6.911 0.961 0.707 0.725 0.659 0.564 . 6.170 6.170 3.495 1.026 0.599 1.000 1.000 0.998 860 . . . . SETBP1 312 0 592 48 0.075 TRUE NA ENSG00000197647.11 . BCM GRCh38.p13 chr19 12016403 12016403 + G G A Missense_Mutation SNP ENST00000344980.10 exon4 c.C464T p.S155F exonic ENSG00000197647.11 . nonsynonymous SNV ENSG00000197647.11:ENST00000344980.10:exon4:c.C464T:p.S155F 19p13.2 C3L-02606 . . . . . . . . . 4.19 D D P B . N M T D 0.225 T T T 0.090 0.594 0.226 0.111 T T T T T T 0.710 8.547 0.965 N N -0.856 0.577 -1.102 0.373 0.072 0.563 0.654 0.537 0.492 . 1.140 -2.270 -0.310 -0.984 -0.392 0.000 0.000 0.001 934 Zinc_finger_C2H2-type . . . ZNF433 270 0 316 57 0.152815013404826 TRUE NA ENSG00000128016.7 . BCM GRCh38.p13 chr19 39407824 39407824 + G G A Missense_Mutation SNP ENST00000597629.3 exon2 c.G106A p.G36R exonic ENSG00000128016.7 . nonsynonymous SNV ENSG00000128016.7:ENST00000597629.3:exon2:c.G106A:p.G36R 19q13.2 C3L-02606 . . . . . . . . . 0.14 . T . . U N . T . 0.106 T T T 0.048 . 0.043 0.509 T . T T T T 1.740 17.300 0.996 N N -0.709 0.797 -0.673 0.939 1.000 0.726 0.522 0.594 0.639 . 3.680 1.360 0.682 1.176 0.606 0.000 0.728 0.535 687 . . . . ZFP36 61 0 273 32 0.104918032786885 TRUE TRUE ENSG00000086544.3 . BCM GRCh38.p13 chr19 40717750 40717750 + G G C Missense_Mutation SNP ENST00000263370.3 exon1 c.G615C p.Q205H exonic ENSG00000086544.3 . nonsynonymous SNV ENSG00000086544.3:ENST00000263370.3:exon1:c.G615C:p.Q205H 19q13.2 C3L-02606 . . . . . . . . . 1.19 D T B B N N L . N 0.089 T T T 0.094 0.146 0.225 0.516 T T T T T T 1.567 16.160 0.810 N N -0.812 0.637 -0.837 0.707 1.000 0.405 0.517 0.522 0.562 . 4.030 0.355 0.476 0.245 0.618 0.000 0.929 0.969 536 . . . . ITPKC 186 0 645 37 0.0542521994134897 TRUE TRUE ENSG00000177398.18 . BCM GRCh38.p13 chr21 42127688 42127688 + A A - Frame_Shift_Del DEL ENST00000408910.6 exon20 c.3547delA p.T1183Hfs*5 exonic ENSG00000177398.18 . frameshift deletion ENSG00000177398.18:ENST00000408910.6:exon20:c.3547delA:p.T1183Hfs*5 21q22.3 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UMODL1 153 1 273 52 0.16 TRUE TRUE ENSG00000090776.6 . BCM GRCh38.p13 chrX 68840262 68840262 + A A T Nonsense_Mutation SNP ENST00000204961.5 exon5 c.A649T p.K217X exonic ENSG00000090776.6 . stopgain ENSG00000090776.6:ENST00000204961.5:exon5:c.A649T:p.K217X Xq13.1 C3L-02606 . . . . . . . . . 4.5 . . . . N D . . . 0.750 . . . . . . . . . D D . . 6.778 36 0.994 D . . . . . 1.000 . . . . . 5.160 5.160 2.148 1.312 0.756 0.998 1.000 0.998 595 . . . . EFNB1 304 0 640 113 0.150066401062417 TRUE TRUE ENSG00000162062.15 . BCM GRCh38.p13 chr16 2460814 2460814 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000162062.15 ENST00000361837.9:exon4:c.197-2A>G . . 16p13.3 C3L-02606 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 3.317 24.200 0.970 D . 0.696 7.060 0.441 4.665 1.000 0.256 0.177 0.218 0.288 0.954 4.590 4.590 1.415 0.315 0.756 0.085 0.035 0.396 713 . . . . TEDC2 80 0 192 31 0.139013452914798 TRUE TRUE ENSG00000211452.11 . BCM GRCh38.p13 chr1 53894505 53894505 + C C T Unknown SNP NA NA NA NA exonic ENSG00000211452.11 . unknown UNKNOWN 1p32.3 C3L-02606 0.0002 0 0.0002 0 0 0.0002 0 0 rs144654417 1.8 . . . . . D . . . 0.181 . . T . . 0.040 . . . T T T T 1.144 13.170 0.949 N N -1.103 0.304 -1.230 0.259 1.000 0.554 0.588 0.573 0.613 . 4.660 -8.310 -1.044 0.138 0.599 0.000 0.820 0.761 819 . . . ID=COSV50778811;OCCURENCE=1(stomach),1(lung) DIO1 204 0 460 45 0.0891089108910891 TRUE NA ENSG00000178752.16 . BCM GRCh38.p13 chr2 238161602 238161602 + C C T Silent SNP ENST00000546354.6 exon2 c.C207T p.T69T exonic ENSG00000178752.16 . synonymous SNV ENSG00000178752.16:ENST00000546354.6:exon2:c.C207T:p.T69T 2q37.3 C3L-02606 . . . . . . . . rs970950289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60137478;OCCURENCE=1(breast) ERFE 36 0 111 29 0.207142857142857 TRUE NA ENSG00000144596.13 . BCM GRCh38.p13 chr3 14517827 14517827 + G G A Silent SNP ENST00000621039.5 exon10 c.C1101T p.P367P exonic ENSG00000144596.13 . synonymous SNV ENSG00000144596.13:ENST00000621039.5:exon10:c.C1101T:p.P367P 3p25.1 C3L-02606 . . . . . . . . rs892714157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRIP2 112 0 259 40 0.133779264214047 TRUE NA ENSG00000163848.19 . BCM GRCh38.p13 chr3 125232683 125232683 + A A G Silent SNP ENST00000360647.8 exon9 c.T2043C p.G681G exonic ENSG00000163848.19 . synonymous SNV ENSG00000163848.19:ENST00000360647.8:exon9:c.T2043C:p.G681G 3q21.2 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF148 205 1 460 55 0.106796116504854 TRUE TRUE ENSG00000172752.14 . BCM GRCh38.p13 chr3 130385168 130385168 + C C T Silent SNP ENST00000265379.10 exon5 c.C1665T p.S555S exonic ENSG00000172752.14 . synonymous SNV ENSG00000172752.14:ENST00000265379.10:exon5:c.C1665T:p.S555S 3q22.1 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL6A5 295 0 643 46 0.0667634252539913 TRUE TRUE ENSG00000026652.15 . BCM GRCh38.p13 chr6 161146569 161146569 + G G A Silent SNP ENST00000320285.9 exon7 c.C798T p.D266D exonic ENSG00000026652.15 . synonymous SNV ENSG00000026652.15:ENST00000320285.9:exon7:c.C798T:p.D266D 6q26 C3L-02606 0.0061 0.0626 0.0033 0.0041 0 0.0002 0.0033 0.0002 rs16892215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100212079;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) AGPAT4 168 0 358 35 0.089058524173028 TRUE NA ENSG00000034677.13 . BCM GRCh38.p13 chr8 100259997 100259997 + C C T Silent SNP ENST00000341084.7 exon9 c.G1683A p.R561R exonic ENSG00000034677.13 . synonymous SNV ENSG00000034677.13:ENST00000341084.7:exon9:c.G1683A:p.R561R 8q22.2 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF19A 189 1 395 48 0.108352144469526 TRUE TRUE ENSG00000171435.14 . BCM GRCh38.p13 chr12 117539822 117539822 + C C T Silent SNP ENST00000339824.7 exon10 c.G1584A p.T528T exonic ENSG00000171435.14 . synonymous SNV ENSG00000171435.14:ENST00000339824.7:exon10:c.G1584A:p.T528T 12q24.22 C3L-02606 4.16e-05 0 0 0.0006 0 0 0 0 rs753143776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56676969;OCCURENCE=1(pancreas),1(upper_aerodigestive_tract),1(endometrium) KSR2 195 0 389 43 0.099537037037037 TRUE TRUE ENSG00000136099.13 . BCM GRCh38.p13 chr13 52847948 52847948 + G G A Silent SNP ENST00000377942.7 exon1 c.C489T p.D163D exonic ENSG00000136099.13 . synonymous SNV ENSG00000136099.13:ENST00000377942.7:exon1:c.C489T:p.D163D 13q14.3 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58810931;OCCURENCE=1(stomach) PCDH8 100 0 386 52 0.118721461187215 TRUE TRUE ENSG00000188869.13 . BCM GRCh38.p13 chr15 81372686 81372686 + C C T Silent SNP ENST00000359440.6 exon2 c.G141A p.P47P exonic ENSG00000188869.13 . synonymous SNV ENSG00000188869.13:ENST00000359440.6:exon2:c.G141A:p.P47P 15q25.1 C3L-02606 0.0001 0 0 0 0 4.499e-05 0 0.0007 rs375088581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63925040;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) TMC3 181 0 424 27 0.0598669623059867 TRUE NA ENSG00000081138.14 . BCM GRCh38.p13 chr18 65814510 65814510 + G G A Silent SNP ENST00000397968.4 exon4 c.G531A p.A177A exonic ENSG00000081138.14 . synonymous SNV ENSG00000081138.14:ENST00000397968.4:exon4:c.G531A:p.A177A 18q22.1 C3L-02606 2.471e-05 9.61e-05 8.64e-05 0 0 1.498e-05 0 0 rs567500655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59881966;OCCURENCE=1(large_intestine) CDH7 291 0 551 60 0.0981996726677578 TRUE TRUE ENSG00000160179.18 . BCM GRCh38.p13 chr21 42290193 42290193 + G G A Silent SNP ENST00000361802.6 exon11 c.G1404A p.A468A exonic ENSG00000160179.18 . synonymous SNV ENSG00000160179.18:ENST00000361802.6:exon11:c.G1404A:p.A468A 21q22.3 C3L-02606 8.241e-06 0 0 0.0001 0 0 0 0 rs61735842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCG1 138 0 370 54 0.127358490566038 TRUE NA ENSG00000100346.18 . BCM GRCh38.p13 chr22 39681037 39681037 + C C T Silent SNP ENST00000402142.4 exon34 c.C5649T p.G1883G exonic ENSG00000100346.18 . synonymous SNV ENSG00000100346.18:ENST00000402142.4:exon34:c.C5649T:p.G1883G 22q13.1 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1I 76 0 260 38 0.12751677852349 TRUE TRUE ENSG00000165288.11 . BCM GRCh38.p13 chrX 80734181 80734181 + C C G Silent SNP ENST00000373275.5 exon11 c.G1023C p.V341V exonic ENSG00000165288.11 . synonymous SNV ENSG00000165288.11:ENST00000373275.5:exon11:c.G1023C:p.V341V Xq21.1 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRWD3 231 1 342 26 0.0706521739130435 TRUE TRUE ENSG00000127603.29 . BCM GRCh38.p13 chr1 39411780 39411780 + C C T Intron SNP NA NA NA NA intronic ENSG00000127603.29 . . . 1p34.3 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57130946;OCCURENCE=1(large_intestine) MACF1 192 0 392 33 0.0776470588235294 TRUE NA ENSG00000203664.7 . BCM GRCh38.p13 chr1 247491412 247491412 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000203664.7 . . . 1q44 C3L-02606 0.0011 0.0002 8.637e-05 0 0 4.497e-05 0 0.0079 rs201479742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR2W5 249 0 635 53 0.0770348837209302 TRUE NA ENSG00000115457.10 . BCM GRCh38.p13 chr2 216661795 216661795 + T T G Intron SNP NA NA NA NA intronic ENSG00000115457.10 . . . 2q35 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFBP2 224 0 648 40 0.0581395348837209 NA TRUE ENSG00000144560.15 . BCM GRCh38.p13 chr3 11671394 11671394 + G G A IGR SNP NA NA NA NA intergenic ENSG00000144560.15;ENSG00000144559.10 dist=27479;dist=135900 . . 3p25.2 C3L-02606 5.68e-05 0.0001 0 0 0 5.214e-05 0 0.0001 rs751713418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VGLL4 74 0 161 29 0.152631578947368 TRUE NA ENSG00000136444.10 . BCM GRCh38.p13 chr17 50480118 50480118 + C C T Intron SNP NA NA NA NA intronic ENSG00000136444.10 . . . 17q21.33 C3L-02606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSAD1 155 0 362 70 0.162037037037037 TRUE NA ENSG00000167614.14 . BCM GRCh38.p13 chr19 54416871 54416871 + C C G Intron SNP NA NA NA NA intronic ENSG00000167614.14 . . . 19q13.42 C3L-02606 . . . . . . . . . 1.14 D . . . . N . T N . T T T 0.006 0.273 0.043 . . T T T T T 0.099 2.079 0.778 N N -0.985 0.420 -1.074 0.402 0.992 0.598 0.590 0.607 0.639 . 2.680 1.470 -0.931 0.073 0.589 0.000 0.002 0.002 982 . . . . TTYH1 121 0 483 161 0.25 TRUE TRUE ENSG00000116793.16 . BCM GRCh38.p13 chr1 113724853 113724853 + T T A Missense_Mutation SNP ENST00000369604.6 exon7 c.A529T p.N177Y exonic ENSG00000116793.16 . nonsynonymous SNV ENSG00000116793.16:ENST00000369604.6:exon7:c.A529T:p.N177Y 1p13.2 C3N-03061 . . . . . . . . . 7.19 D D B B N D L . D 0.552 T T T 0.148 0.125 0.227 0.312 T T T T D D 2.369 21.900 0.985 D N -0.355 1.484 -0.183 1.826 0.004 0.732 0.709 0.651 0.728 . 5.140 2.580 1.549 1.138 0.665 1.000 1.000 0.997 675 . . . . PHTF1 108 0 155 15 0.0882352941176471 TRUE TRUE ENSG00000007908.16 . BCM GRCh38.p13 chr1 169728082 169728082 + C C T Missense_Mutation SNP ENST00000333360.12 exon8 c.G1255A p.D419N exonic ENSG00000007908.16 . nonsynonymous SNV ENSG00000007908.16:ENST00000333360.12:exon8:c.G1255A:p.D419N 1q24.2 C3N-03061 . . . . . . . . . 6.20 T T D D D D L T N 0.210 T T T 0.208 0.475 0.830 0.069 T T T T D T 2.332 21.800 0.998 D N 0.333 3.957 0.349 4.015 1.000 0.625 0.590 0.574 0.595 . 5.250 5.250 0.430 1.026 0.599 0.119 0.904 0.774 545 Sushi/SCR/CCP_domain . . . SELE 143 0 141 29 0.170588235294118 TRUE NA ENSG00000000971.16 . BCM GRCh38.p13 chr1 196676002 196676002 + G G A Missense_Mutation SNP ENST00000367429.9 exon4 c.G364A p.G122S exonic ENSG00000000971.16 . nonsynonymous SNV ENSG00000000971.16:ENST00000367429.9:exon4:c.G364A:p.G122S 1q31.3 C3N-03061 . . . . . . . . . 4.18 T T P P . N . T D 0.358 T T D 0.281 0.837 0.902 0.386 T T T T D T 3.065 23.600 0.997 N D 0.001 2.516 -0.046 2.208 0.001 0.706 0.574 0.574 0.613 . 5.500 2.120 2.490 1.175 0.676 0.982 0.357 0.944 545 Sushi/SCR/CCP_domain . . . CFH 99 0 123 38 0.236024844720497 TRUE TRUE ENSG00000117724.13 . BCM GRCh38.p13 chr1 214618655 214618655 + A A T Missense_Mutation SNP ENST00000366955.8 exon4 c.A442T p.I148F exonic ENSG00000117724.13 . nonsynonymous SNV ENSG00000117724.13:ENST00000366955.8:exon4:c.A442T:p.I148F 1q41 C3N-03061 . . . . . . . . rs936369720 2.19 T T D P N N . T N 0.235 T T T 0.099 . 0.375 0.189 T T T T T T 1.630 16.560 0.948 D N -0.102 2.169 -0.242 1.688 0.789 0.722 0.725 0.725 0.735 . 5.420 -1.680 2.215 -0.113 0.691 0.899 0.972 0.961 884 . . . ID=COSV65276969;OCCURENCE=1(large_intestine) CENPF 170 0 170 24 0.123711340206186 TRUE TRUE ENSG00000116141.16 . BCM GRCh38.p13 chr1 220599860 220599860 + G G C Missense_Mutation SNP ENST00000366917.6 exon5 c.G421C p.G141R exonic ENSG00000116141.16 . nonsynonymous SNV ENSG00000116141.16:ENST00000366917.6:exon5:c.G421C:p.G141R 1q41 C3N-03061 . . . . . . . . . 15.20 D T D D D D M T D 0.819 T T D 0.453 0.781 0.589 2.171 D T D D D D 3.536 24.800 0.999 D D 0.886 10.701 0.856 12.010 1.000 0.615 0.574 0.659 0.568 . 5.340 5.340 9.116 1.155 0.676 1.000 0.998 0.996 855 Protein_kinase_domain . . . MARK1 41 0 57 17 0.22972972972973 TRUE TRUE ENSG00000143751.10 . BCM GRCh38.p13 chr1 225999303 225999303 + C C G Missense_Mutation SNP ENST00000272091.8 exon1 c.G10C p.A4P exonic ENSG00000143751.10 . nonsynonymous SNV ENSG00000143751.10:ENST00000272091.8:exon1:c.G10C:p.A4P 1q42.12 C3N-03061 . . . . . . . . rs897210734 2.20 D T B B N N M T N 0.205 T T T 0.122 . 0.115 0.233 T T T T T T -0.608 0.070 0.901 N N -1.389 0.122 -1.583 0.080 1.000 0.442 0.522 0.520 0.373 . 4.950 -9.900 -4.042 0.094 0.599 0.000 0.008 0.001 764 . . . . SDE2 150 0 151 27 0.151685393258427 TRUE NA ENSG00000144406.19 . BCM GRCh38.p13 chr2 209839392 209839392 + G G A Missense_Mutation SNP ENST00000439458.5 exon19 c.G3212A p.R1071H exonic ENSG00000144406.19 . nonsynonymous SNV ENSG00000144406.19:ENST00000439458.5:exon19:c.G3212A:p.R1071H 2q34 C3N-03061 4.452e-05 0 0 0 0 0 0 0.0001 rs755460416 9.20 D D B B D D N T N 0.499 T T T 0.155 0.272 0.254 1.181 D T T T D D 3.045 23.500 1.000 D D 0.192 3.268 0.379 4.210 0.995 0.595 0.574 0.598 0.564 . 5.880 5.880 8.190 1.176 0.676 1.000 0.997 0.677 814 . . . ID=COSV55888864;OCCURENCE=1(large_intestine),1(stomach),1(pancreas) UNC80 312 0 324 41 0.112328767123288 TRUE TRUE ENSG00000168301.13 . BCM GRCh38.p13 chr3 58501321 58501321 + C C T Missense_Mutation SNP ENST00000404589.8 exon3 c.C403T p.P135S exonic ENSG00000168301.13 . nonsynonymous SNV ENSG00000168301.13:ENST00000404589.8:exon3:c.C403T:p.P135S 3p14.3 C3N-03061 . . . . . . . . . 9.19 D T P B D D N T N 0.658 T T D 0.235 0.445 0.778 1.209 D T D T D D 2.364 21.900 0.993 D . 0.292 3.740 0.445 4.692 1.000 0.706 0.654 0.710 0.636 . 5.660 5.660 7.905 1.026 0.549 1.000 1.000 0.995 628 . . . . KCTD6 105 0 82 18 0.18 TRUE TRUE ENSG00000121892.15 . BCM GRCh38.p13 chr4 39904094 39904097 + CTGA CTGA - Frame_Shift_Del DEL ENST00000303538.13 exon12 c.1328_1331del p.V443Afs*3 exonic ENSG00000121892.15 . frameshift deletion ENSG00000121892.15:ENST00000303538.13:exon12:c.1328_1331del:p.V443Afs*3 4p14 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDS5A 152 0 182 30 0.141509433962264 TRUE NA ENSG00000138640.15 . BCM GRCh38.p13 chr4 88851038 88851038 + C C T Missense_Mutation SNP ENST00000264344.10 exon7 c.G989A p.S330N exonic ENSG00000138640.15 . nonsynonymous SNV ENSG00000138640.15:ENST00000264344.10:exon7:c.G989A:p.S330N 4q22.1 C3N-03061 8.241e-06 0 0 0 0 1.5e-05 0 0 rs753411487 1.20 D T B B N N N T N 0.026 T T T 0.067 0.245 0.285 0.172 T T T T T T 0.386 5.267 0.756 N N -1.012 0.392 -1.054 0.425 0.123 0.638 0.574 0.653 0.568 . 4.330 0.130 -0.170 0.096 0.599 0.000 0.007 0.191 833 . . . . FAM13A 127 0 126 32 0.20253164556962 TRUE NA ENSG00000218336.9 . BCM GRCh38.p13 chr4 182754482 182754482 + G G A Missense_Mutation SNP ENST00000511685.6 exon22 c.G4115A p.R1372H exonic ENSG00000218336.9 . nonsynonymous SNV ENSG00000218336.9:ENST00000511685.6:exon22:c.G4115A:p.R1372H 4q35.1 C3N-03061 0.0002 0.0001 0.0001 0 0.0002 1.706e-05 0 0.0012 rs543878787 5.19 T T B B . D N D N 0.158 T T T 0.305 0.551 0.082 0.344 T T T T T D 2.206 20.900 0.970 D D -0.127 2.090 0.103 2.749 1.000 0.706 0.574 0.725 0.613 . 5.580 5.580 5.008 1.083 0.676 1.000 0.978 0.986 955 . . . ID=COSV69304543;OCCURENCE=2(large_intestine),2(biliary_tract),1(upper_aerodigestive_tract),1(endometrium) TENM3 206 0 164 44 0.211538461538462 TRUE TRUE ENSG00000142319.18 . BCM GRCh38.p13 chr5 1403049 1403049 + - NA G Frame_Shift_Ins NA ENST00000270349.12 exon13 c.1639dupC p.H547Pfs*56 exonic ENSG00000142319.18 . frameshift insertion ENSG00000142319.18:ENST00000270349.12:exon13:c.1639dupC:p.H547Pfs*56 5p15.33 C3N-03061 5.078e-05 0 8.812e-05 0 0 7.701e-05 0 0 rs749320240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC6A3 NA NA NA NA NA NA NA ENSG00000164236.12 . BCM GRCh38.p13 chr5 10649784 10649784 + G G A Missense_Mutation SNP ENST00000296657.7 exon4 c.G1156A p.G386S exonic ENSG00000164236.12 . nonsynonymous SNV ENSG00000164236.12:ENST00000296657.7:exon4:c.G1156A:p.G386S 5p15.2 C3N-03061 . . . . . . . . . 1.18 T T . . N N N T N 0.025 T T D 0.013 0.188 0.030 . T T T T T T -0.674 0.050 0.839 N N -1.073 0.331 -1.137 0.339 1.000 0.672 0.702 0.576 0.613 . 4.840 -0.535 0.233 -2.606 -1.140 0.002 0.000 0.000 981 . . . . ANKRD33B 73 0 97 20 0.170940170940171 TRUE TRUE ENSG00000262576.3 . BCM GRCh38.p13 chr5 141356656 141356656 + C C T Nonsense_Mutation SNP ENST00000571252.3 exon1 c.C1549T p.R517X exonic ENSG00000262576.3 . stopgain ENSG00000262576.3:ENST00000571252.3:exon1:c.C1549T:p.R517X 5q31.3 C3N-03061 . . . . . . . . . 3.5 . . . . . A . . . 0.093 . . . . . . . . . D D . . 4.822 33 0.985 N N . . . . 0.720 0.625 0.547 0.602 0.595 . 5.570 3.640 -1.304 -0.319 -0.223 0.000 0.009 0.041 641 Cadherin-like . . ID=COSV53897391;OCCURENCE=1(large_intestine),2(stomach),1(skin),1(lung) PCDHGA4 160 0 196 41 0.172995780590717 TRUE TRUE ENSG00000086570.12 . BCM GRCh38.p13 chr5 151553248 151553248 + T T A Missense_Mutation SNP ENST00000261800.5 exon5 c.A4085T p.D1362V exonic ENSG00000086570.12 . nonsynonymous SNV ENSG00000086570.12:ENST00000261800.5:exon5:c.A4085T:p.D1362V 5q33.1 C3N-03061 . . . . . . . . . 14.20 D D D D D D L T D 0.897 T T D 0.558 0.504 0.864 0.677 T T D D D D 4.144 28.100 0.995 D D 0.643 6.397 0.646 6.856 1.000 0.554 0.574 0.618 0.564 . 5.380 5.380 7.610 1.138 0.665 1.000 0.932 0.921 886 Cadherin-like . . . FAT2 384 0 379 57 0.130733944954128 TRUE TRUE ENSG00000137338.5 . BCM GRCh38.p13 chr6 28284009 28284009 + C C T Nonsense_Mutation SNP ENST00000259883.3 exon2 c.C196T p.R66X exonic ENSG00000137338.5 . stopgain ENSG00000137338.5:ENST00000259883.3:exon2:c.C196T:p.R66X 6p22.1 C3N-03061 0.0005 9.617e-05 0.0003 0 0 0.0008 0 0 rs141311101 3.5 . . . . . A . . . 0.032 . . . . . . . . . D D . . 5.149 33 0.998 N N 0.276 3.659 0.013 2.406 0.980 0.707 0.654 0.702 0.714 . 4.560 3.690 -0.014 0.877 0.599 0.000 0.985 0.910 513 SCAN_domain . . . PGBD1 139 0 135 34 0.201183431952663 TRUE NA ENSG00000137411.18 . BCM GRCh38.p13 chr6 30916898 30916900 + AGC AGC - In_Frame_Del DEL ENST00000321897.9 exon7 c.692_694del p.Q232del exonic ENSG00000137411.18 . nonframeshift deletion ENSG00000137411.18:ENST00000321897.9:exon7:c.692_694del:p.Q232del 6p21.33 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VARS2 278 0 282 35 0.110410094637224 TRUE TRUE ENSG00000124678.20 . BCM GRCh38.p13 chr6 35122303 35122303 + C C T Missense_Mutation SNP ENST00000311875.11 exon5 c.G392A p.R131H exonic ENSG00000124678.20 . nonsynonymous SNV ENSG00000124678.20:ENST00000311875.11:exon5:c.G392A:p.R131H 6p21.31 C3N-03061 1.648e-05 9.612e-05 0 0 0 1.499e-05 0 0 rs150752841 13.20 D D D D D D M T D 0.628 T T D 0.321 . 0.692 0.396 T T T T D D 3.756 25.600 0.999 D D 0.723 7.459 0.625 6.557 0.857 0.554 0.588 0.574 0.542 . 4.330 4.330 4.703 1.026 0.599 1.000 0.843 0.902 377 . . . ID=COSV99774226;OCCURENCE=1(endometrium) TCP11 196 0 249 24 0.0879120879120879 TRUE NA ENSG00000196569.12 . BCM GRCh38.p13 chr6 129481332 129481332 + A A G Missense_Mutation SNP ENST00000421865.2 exon55 c.A7642G p.T2548A exonic ENSG00000196569.12 . nonsynonymous SNV ENSG00000196569.12:ENST00000421865.2:exon55:c.A7642G:p.T2548A 6q22.33 C3N-03061 . . . . . . . . . 13.19 T . D D D D M T N 0.776 D D D 0.528 0.376 0.918 0.294 T T D D D T 3.336 24.200 0.993 D D 0.631 6.256 0.620 6.485 0.997 0.638 0.610 0.653 0.509 . 5.110 5.110 6.630 1.312 0.756 1.000 1.000 0.986 769 Laminin_G_domain . . . LAMA2 341 0 326 67 0.170483460559796 TRUE TRUE ENSG00000157927.17 . BCM GRCh38.p13 chr7 4799422 4799422 + C C T Missense_Mutation SNP ENST00000399583.4 exon15 c.G3184A p.V1062M exonic ENSG00000157927.17 . nonsynonymous SNV ENSG00000157927.17:ENST00000399583.4:exon15:c.G3184A:p.V1062M 7p22.1 C3N-03061 3.328e-05 0 0.0002 0.0001 0 0 0 6.057e-05 rs747213896 0.20 T T B B N N N T N 0.127 T T T 0.030 . 0.237 0.044 T T T T T T 0.692 8.377 0.848 N N -0.952 0.458 -0.978 0.517 0.020 0.646 0.514 0.645 0.605 . 4.930 -1.460 0.366 0.138 0.549 0.001 0.242 0.165 825 . . . ID=COSV68201980;OCCURENCE=1(lung) RADIL 261 0 245 38 0.134275618374558 TRUE TRUE ENSG00000218823.2 . BCM GRCh38.p13 chr7 4861453 4861453 + C C T Missense_Mutation SNP ENST00000404991.2 exon1 c.G358A p.V120I exonic ENSG00000218823.2 . nonsynonymous SNV ENSG00000218823.2:ENST00000404991.2:exon1:c.G358A:p.V120I 7p22.1 C3N-03061 . . . . . . . . . 7.14 . D D P . D . . . 0.121 T T T 0.180 . 0.725 0.305 T . T T D D 3.044 23.500 0.990 D D 0.084 2.822 -0.040 2.227 1.000 0.542 0.460 0.547 0.568 . 3.980 2.180 6.093 0.127 -0.266 1.000 0.966 0.836 840 Poly(A)_polymerase,_central_domain;Polymerase,_nucleotidyl_transferase_domain . . ID=COSV68200319;OCCURENCE=1(liver),2(pancreas) PAPOLB 117 0 184 16 0.08 TRUE TRUE ENSG00000136297.14 . BCM GRCh38.p13 chr7 4907566 4907566 + C C T Missense_Mutation SNP ENST00000404774.7 exon7 c.G643A p.G215R exonic ENSG00000136297.14 . nonsynonymous SNV ENSG00000136297.14:ENST00000404774.7:exon7:c.G643A:p.G215R 7p22.1 C3N-03061 2.49e-05 0 0 0 0 3.005e-05 0 6.059e-05 rs375097927 15.20 D D D D D D H T D 0.976 T T D 0.735 . 0.723 0.287 T T D D D D 4.094 27.700 0.999 D D 0.949 12.390 0.860 12.153 1.000 0.487 0.574 0.573 0.613 . 5.600 5.600 7.789 1.019 0.593 1.000 0.718 0.885 835 . . . ID=COSV68661071;OCCURENCE=1(pancreas) MMD2 337 1 367 53 0.126190476190476 TRUE TRUE ENSG00000179869.15 . BCM GRCh38.p13 chr7 48520218 48520218 + G G A Missense_Mutation SNP ENST00000435803.6 exon53 c.G13975A p.V4659M exonic ENSG00000179869.15 . nonsynonymous SNV ENSG00000179869.15:ENST00000435803.6:exon53:c.G13975A:p.V4659M 7p12.3 C3N-03061 5.847e-05 0.0002 8.767e-05 0 0 4.523e-05 0 6.127e-05 rs369296047 4.16 T D . . N N . D N 0.474 T D D 0.296 . 0.605 0.185 T . T T T T 1.143 13.170 0.993 N N -0.217 1.829 -0.357 1.451 0.000 0.487 0.574 0.574 0.564 . 5.140 1.690 0.702 -0.536 -0.108 0.527 0.029 0.276 811 . . . ID=COSV68947920;OCCURENCE=1(large_intestine),1(stomach) ABCA13 143 0 139 24 0.147239263803681 TRUE TRUE ENSG00000221900.6 . BCM GRCh38.p13 chr7 53036048 53036048 + G G A Missense_Mutation SNP ENST00000408890.6 exon1 c.G377A p.R126H exonic ENSG00000221900.6 . nonsynonymous SNV ENSG00000221900.6:ENST00000408890.6:exon1:c.G377A:p.R126H 7p12.1 C3N-03061 . . . . . . . . . 2.19 T T D P . N N T N 0.089 T T T 0.080 0.396 0.055 0.386 T T T T D T 1.212 13.730 0.998 N N -0.534 1.110 -0.724 0.865 0.000 0.487 0.574 0.547 0.564 . 2.690 1.780 -0.044 -0.357 -0.938 0.000 0.000 0.000 981 . . . ID=COSV68692958;OCCURENCE=3(large_intestine),1(central_nervous_system) POM121L12 360 0 342 47 0.120822622107969 TRUE TRUE ENSG00000185274.12 . BCM GRCh38.p13 chr7 71132866 71132866 + G G A Missense_Mutation SNP ENST00000333538.10 exon1 c.G64A p.V22M exonic ENSG00000185274.12 . nonsynonymous SNV ENSG00000185274.12:ENST00000333538.10:exon1:c.G64A:p.V22M 7q11.22 C3N-03061 . . . . . . . . . 6.19 T T P B N D . T N 0.190 T T T 0.131 0.396 0.496 0.618 D T T T D D 2.884 23.200 0.996 D D 0.148 3.082 0.292 3.672 1.000 0.487 0.574 0.522 0.563 . 4.850 4.850 5.963 1.172 0.672 1.000 1.000 0.971 938 . . . ID=COSV61194968;OCCURENCE=1(large_intestine) GALNT17 342 0 329 43 0.115591397849462 TRUE TRUE ENSG00000106236.4 . BCM GRCh38.p13 chr7 98619697 98619697 + G G T Missense_Mutation SNP ENST00000265634.4 exon2 c.G481T p.V161L exonic ENSG00000106236.4 . nonsynonymous SNV ENSG00000106236.4:ENST00000265634.4:exon2:c.G481T:p.V161L 7q22.1 C3N-03061 . . . . . . . . . 4.20 T T B B D D N T N 0.217 T T T 0.067 0.200 0.236 0.345 T T T T T T 1.743 17.320 0.886 D D -0.676 0.853 -0.503 1.196 1.000 0.789 0.596 0.768 0.639 . 4.510 1.000 2.081 0.224 0.618 1.000 0.987 0.806 228 . . . . NPTX2 410 1 423 54 0.113207547169811 TRUE TRUE ENSG00000104447.12 . BCM GRCh38.p13 chr8 115587578 115587578 + C C T Missense_Mutation SNP ENST00000640765.1 exon4 c.G2084A p.R695H exonic ENSG00000104447.12 . nonsynonymous SNV ENSG00000104447.12:ENST00000640765.1:exon4:c.G2084A:p.R695H 8q23.3 C3N-03061 . . . . . . . . . 11.20 D D D D D D M T N 0.790 T T T 0.339 0.476 0.283 1.680 T T T T D D 4.155 28.200 0.999 D D 0.734 7.618 0.765 9.163 1.000 0.638 0.588 0.659 0.668 . 5.770 5.770 6.236 1.026 0.599 1.000 1.000 0.997 942 Zinc_finger_C2H2-type . . ID=COSV55234192;OCCURENCE=1(upper_aerodigestive_tract) TRPS1 245 0 179 52 0.225108225108225 TRUE TRUE ENSG00000183354.12 . BCM GRCh38.p13 chr9 5929093 5929093 + C C G Missense_Mutation SNP ENST00000399933.8 exon6 c.G2449C p.E817Q exonic ENSG00000183354.12 . nonsynonymous SNV ENSG00000183354.12:ENST00000399933.8:exon6:c.G2449C:p.E817Q 9p24.1 C3N-03061 . . . . . . . . . 11.19 D D D D D D N . N 0.697 T T T 0.217 0.183 0.470 . D T T T D D 3.780 25.700 0.998 D D 0.715 7.336 0.746 8.715 1.000 0.651 0.709 0.659 0.646 . 5.510 5.510 7.253 1.026 0.599 1.000 1.000 0.998 352 . . . . KIAA2026 66 0 91 12 0.116504854368932 TRUE TRUE ENSG00000198825.15 . BCM GRCh38.p13 chr10 119807987 119807987 + G G A Missense_Mutation SNP ENST00000650623.2 exon13 c.G1496A p.R499H exonic ENSG00000198825.15 . nonsynonymous SNV ENSG00000198825.15:ENST00000650623.2:exon13:c.G1496A:p.R499H 10q26.11 C3N-03061 8.247e-06 0 0 0 0 1.501e-05 0 0 rs775019768 9.20 D T D P D D L T N 0.625 T T T 0.325 . 0.519 0.652 T T D T D D 4.394 31 0.999 D D 0.753 7.925 0.788 9.787 1.000 0.722 0.699 0.710 0.688 . 5.550 5.550 9.878 1.176 0.618 1.000 0.975 0.975 545 SAC_domain . . ID=COSV62820038;OCCURENCE=3(oesophagus),3(large_intestine),1(stomach),1(endometrium) INPP5F 143 0 118 12 0.0923076923076923 NA TRUE ENSG00000060749.15 . BCM GRCh38.p13 chr11 32932367 32932367 + C C T Missense_Mutation SNP ENST00000399302.7 exon4 c.C722T p.S241F exonic ENSG00000060749.15 . nonsynonymous SNV ENSG00000060749.15:ENST00000399302.7:exon4:c.C722T:p.S241F 11p13 C3N-03061 . . . . . . . . . 5.20 D T P B N D L T N 0.148 T T T 0.045 0.239 0.103 0.266 T T T T D D 2.887 23.200 0.997 D N 0.290 3.726 0.357 4.068 0.374 0.707 0.546 0.725 0.714 . 4.980 4.050 3.134 1.026 0.599 1.000 0.998 0.996 492 . . . . QSER1 193 0 217 18 0.0765957446808511 TRUE TRUE ENSG00000181903.5 . BCM GRCh38.p13 chr11 55665729 55665729 + C C T Missense_Mutation SNP ENST00000641251.1 exon1 c.C563T p.T188M exonic ENSG00000181903.5 . nonsynonymous SNV ENSG00000181903.5:ENST00000641251.1:exon1:c.C563T:p.T188M 11q11 C3N-03061 0.0001 0.0002 0.0002 0.0003 0.0002 7.494e-05 0 0.0003 rs372457190 1.20 T T B B N N M T N 0.047 T T T 0.010 . 0.166 0.002 T T T T T T -0.526 0.105 0.326 N N -1.163 0.254 -1.219 0.267 0.000 0.487 0.574 0.574 0.564 . 4.070 -2.790 -1.770 -0.591 -0.244 0.000 0.002 0.079 145 GPCR,_rhodopsin-like,_7TM . . ID=COSV58602389;OCCURENCE=2(pancreas) OR4C6 205 0 223 24 0.097165991902834 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-03061 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 253 0 306 51 0.142857142857143 TRUE TRUE ENSG00000167548.15 . BCM GRCh38.p13 chr12 49052696 49052696 + C C A Nonsense_Mutation SNP ENST00000301067.11 exon9 c.G1126T p.E376X exonic ENSG00000167548.15 . stopgain ENSG00000167548.15:ENST00000301067.11:exon9:c.G1126T:p.E376X 12q13.12 C3N-03061 . . . . . . . . . 4.6 . . . . N A . . . 0.696 . . . . . . . . . D D . . 6.710 36 0.995 D N 1.006 14.120 0.851 11.805 1.000 0.707 0.725 0.702 0.714 . 5.340 5.340 2.686 1.026 0.549 0.998 0.999 0.988 360 . . . . KMT2D 98 0 115 25 0.178571428571429 TRUE TRUE ENSG00000075035.10 . BCM GRCh38.p13 chr12 108210186 108210186 + C C T Missense_Mutation SNP ENST00000547525.6 exon4 c.C563T p.T188M exonic ENSG00000075035.10 . nonsynonymous SNV ENSG00000075035.10:ENST00000547525.6:exon4:c.C563T:p.T188M 12q23.3 C3N-03061 1.696e-05 0 0 0 0 3.074e-05 0 0 rs749318050 2.20 T T B B N N L T N 0.352 T T D 0.119 . 0.278 0.463 T T T T D T 1.897 18.460 0.988 N N -0.150 2.022 -0.110 2.019 1.000 0.554 0.590 0.602 0.613 . 5.120 5.120 2.856 1.016 0.587 0.021 0.060 0.892 889 Carbohydrate-binding_WSC . . ID=COSV54586324;OCCURENCE=1(breast) WSCD2 562 2 517 98 0.159349593495935 TRUE TRUE ENSG00000123191.16 . BCM GRCh38.p13 chr13 51934759 51934759 + G G C Missense_Mutation SNP ENST00000242839.10 exon21 c.C4395G p.I1465M exonic ENSG00000123191.16 . nonsynonymous SNV ENSG00000123191.16:ENST00000242839.10:exon21:c.C4395G:p.I1465M 13q14.3 C3N-03061 . . . . . . . . . 12.20 D D B B N D L D N 0.326 D D D 0.500 0.243 0.754 0.101 T D D D D T 2.101 20.100 0.986 D N -0.198 1.882 -0.090 2.075 1.000 0.615 0.611 0.650 0.655 . 5.350 4.490 1.763 1.176 0.676 1.000 0.894 0.705 491 . . . . ATP7B 523 0 593 76 0.113602391629297 TRUE TRUE ENSG00000123191.16 . BCM GRCh38.p13 chr13 51935623 51935623 + G G A Missense_Mutation SNP ENST00000242839.10 exon20 c.C4094T p.S1365F exonic ENSG00000123191.16 . nonsynonymous SNV ENSG00000123191.16:ENST00000242839.10:exon20:c.C4094T:p.S1365F 13q14.3 C3N-03061 9.365e-06 0 0 0 0 1.654e-05 0 0 rs747301758 19.20 D D D D D D M D D 0.949 D D D 0.911 0.552 0.977 0.390 T D D D D D 4.395 31 0.998 D D 0.813 9.049 0.810 10.414 1.000 0.615 0.563 0.616 0.646 . 5.230 5.230 9.460 1.083 0.676 1.000 0.999 0.994 485 . . . . ATP7B 265 0 284 42 0.128834355828221 TRUE NA ENSG00000068650.18 . BCM GRCh38.p13 chr13 112831541 112831541 + A A C Missense_Mutation SNP ENST00000487903.5 exon13 c.A1388C p.N463T exonic ENSG00000068650.18 . nonsynonymous SNV ENSG00000068650.18:ENST00000487903.5:exon13:c.A1388C:p.N463T 13q34 C3N-03061 . . . . . . . . . 2.20 T T B B N N N D N 0.287 T T T 0.139 0.333 0.451 0.301 T T T T T T 1.293 14.340 0.631 D N -0.355 1.484 -0.294 1.577 1.000 0.707 0.702 0.702 0.714 . 5.450 4.570 2.873 0.182 -0.156 0.961 0.006 0.415 994 . . . . ATP11A 91 0 95 37 0.28030303030303 TRUE TRUE ENSG00000139874.6 . BCM GRCh38.p13 chr14 38210174 38210174 + G G A Missense_Mutation SNP ENST00000267377.3 exon3 c.G785A p.R262H exonic ENSG00000139874.6 . nonsynonymous SNV ENSG00000139874.6:ENST00000267377.3:exon3:c.G785A:p.R262H 14q21.1 C3N-03061 . . . . . . . . . 15.20 D D D P D D M T D 0.576 T T D 0.339 0.501 0.593 2.029 D D D T D D 4.619 32 1.000 D D 0.795 8.687 0.776 9.449 1.000 0.658 0.574 0.619 0.619 . 4.820 4.820 9.968 1.155 0.676 1.000 1.000 1.000 804 GPCR,_rhodopsin-like,_7TM . . . SSTR1 201 0 134 30 0.182926829268293 TRUE TRUE ENSG00000198133.8 . BCM GRCh38.p13 chr14 67473728 67473728 + G G A Missense_Mutation SNP ENST00000357461.6 exon3 c.C196T p.R66W exonic ENSG00000198133.8 . nonsynonymous SNV ENSG00000198133.8:ENST00000357461.6:exon3:c.C196T:p.R66W 14q24.1 C3N-03061 . . . . . . . . rs926386994 4.19 T T P B N N N . N 0.304 T T T 0.063 0.404 0.105 1.237 T T T T D D 3.160 23.800 0.998 D D 0.219 3.390 0.304 3.742 0.863 0.534 0.588 0.686 0.542 . 4.690 4.690 4.247 1.176 0.676 1.000 0.998 0.992 298 . . . . TMEM229B 289 0 302 59 0.163434903047091 TRUE NA ENSG00000139985.7 . BCM GRCh38.p13 chr14 70457897 70457897 + G G A Missense_Mutation SNP ENST00000603540.2 exon2 c.G398A p.R133Q exonic ENSG00000139985.7 . nonsynonymous SNV ENSG00000139985.7:ENST00000603540.2:exon2:c.G398A:p.R133Q 14q24.2 C3N-03061 . . . . . . . . . 0.18 . T B B N N N T . 0.086 T T T 0.116 0.805 0.118 0.486 T T T T T T 0.116 2.243 0.685 N N -1.350 0.139 -1.400 0.151 0.017 0.516 0.610 0.547 0.613 . 3.760 -1.670 0.299 0.215 -0.221 0.000 0.028 0.086 741 Peptidase_M12B,_propeptide . . ID=COSV50804868;OCCURENCE=1(large_intestine),1(lung) ADAM21 167 0 167 36 0.177339901477833 NA TRUE ENSG00000241839.10 . BCM GRCh38.p13 chr15 64855006 64855006 + G G A Missense_Mutation SNP ENST00000323544.5 exon3 c.G248A p.R83H exonic ENSG00000241839.10;ENSG00000249240.2 . nonsynonymous SNV ENSG00000241839.10:ENST00000323544.5:exon3:c.G248A:p.R83H,ENSG00000249240.2:ENST00000437723.1:exon3:c.G248A:p.R83H 15q22.31 C3N-03061 8.719e-05 0.0002 0 0 0 0.0001 0 0 rs144415889 8.20 T T D D D D L T N 0.395 T T D 0.436 . 0.706 0.560 T T T T T D 4.373 31 0.999 D D 0.614 6.069 0.627 6.575 1.000 0.707 0.702 0.725 0.714 . 5.190 5.190 4.931 1.176 0.676 0.998 0.999 0.986 195 Pleckstrin_homology_domain . . ID=COSV60261731;OCCURENCE=1(endometrium) PLEKHO2 247 0 293 42 0.125373134328358 TRUE TRUE ENSG00000156218.13 . BCM GRCh38.p13 chr15 84016491 84016491 + C C T Missense_Mutation SNP ENST00000286744.10 exon25 c.C4265T p.P1422L exonic ENSG00000156218.13 . nonsynonymous SNV ENSG00000156218.13:ENST00000286744.10:exon25:c.C4265T:p.P1422L 15q25.2 C3N-03061 3.382e-05 0 0 0.0002 0 3.081e-05 0 0 rs199806479 0.20 T T B B N N N T N 0.124 T T T 0.039 0.393 0.436 0.126 T T T T T T 0.297 4.258 0.085 N N -1.374 0.128 -1.328 0.191 0.000 0.581 0.588 0.565 0.564 . 4.530 0.791 0.368 0.204 -0.114 0.000 0.044 0.346 635 . . . ID=COSV54470395;OCCURENCE=2(skin) ADAMTSL3 125 0 124 20 0.138888888888889 TRUE TRUE ENSG00000166813.15 . BCM GRCh38.p13 chr15 89648280 89648280 + G G A Missense_Mutation SNP ENST00000394412.8 exon5 c.C1418T p.A473V exonic ENSG00000166813.15 . nonsynonymous SNV ENSG00000166813.15:ENST00000394412.8:exon5:c.C1418T:p.A473V 15q26.1 C3N-03061 . . . . . . . . . 1.20 T T B B U N L T N 0.026 T T D 0.075 0.101 0.175 0.019 T T T T T T 1.566 16.160 0.993 N N -1.044 0.359 -1.086 0.390 0.999 0.696 0.547 0.692 0.605 . 4.090 1.060 1.363 0.215 -0.132 0.004 0.052 0.010 843 . . . . KIF7 200 0 210 29 0.121338912133891 TRUE NA ENSG00000185905.4 . BCM GRCh38.p13 chr16 29744306 29744306 + G G A Missense_Mutation SNP ENST00000329410.4 exon2 c.C646T p.R216C exonic ENSG00000185905.4 . nonsynonymous SNV ENSG00000185905.4:ENST00000329410.4:exon2:c.C646T:p.R216C 16p11.2 C3N-03061 9.211e-06 0 0 0 0 1.664e-05 0 0 rs775079638 11.19 D D D D U D L T D 0.662 T T D 0.454 0.340 0.679 1.344 . T D D D T 3.522 24.800 0.999 D N 0.307 3.818 0.286 3.637 1.000 0.742 0.586 0.775 0.542 . 5.800 3.610 0.387 0.138 0.604 0.123 0.818 0.864 476 . . . ID=COSV61477192;OCCURENCE=3(large_intestine) C16orf54 503 0 600 114 0.159663865546218 TRUE TRUE ENSG00000171724.3 . BCM GRCh38.p13 chr16 77884669 77884669 + G G T Missense_Mutation SNP ENST00000302536.3 exon7 c.G944T p.G315V exonic ENSG00000171724.3 . nonsynonymous SNV ENSG00000171724.3:ENST00000302536.3:exon7:c.G944T:p.G315V 16q23.1 C3N-03061 . . . . . . . . . 16.20 D D D D D D M T D 0.948 T T D 0.677 0.857 0.454 0.599 D T D D D D 3.961 26.700 0.998 D D 0.832 9.432 0.760 9.053 1.000 0.635 0.610 0.644 0.568 . 5.920 5.920 9.602 1.176 0.676 1.000 0.199 0.777 948 Polyketide_synthase,_enoylreductase_domain . . . VAT1L 236 1 256 45 0.149501661129568 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7676082 7676082 + - NA A Frame_Shift_Ins NA ENST00000269305.8 exon4 c.286dupT p.S96Ffs*53 exonic ENSG00000141510.17 . frameshift insertion ENSG00000141510.17:ENST00000269305.8:exon4:c.286dupT:p.S96Ffs*53 17p13.1 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 NA NA NA NA NA NA NA ENSG00000132481.7 . BCM GRCh38.p13 chr17 75877987 75877987 + G G A Missense_Mutation SNP ENST00000254816.6 exon1 c.C562T p.P188S exonic ENSG00000132481.7 . nonsynonymous SNV ENSG00000132481.7:ENST00000254816.6:exon1:c.C562T:p.P188S 17q25.1 C3N-03061 0 0 0 0 0 0 0 0 rs534004186 8.20 T D B B D D M T N 0.089 T T D 0.062 0.379 0.556 2.728 D T T T D T 2.243 21.200 0.998 D N -0.176 1.946 -0.101 2.045 1.000 0.443 0.552 0.666 0.242 . 4.300 4.300 1.382 1.076 0.573 0.003 0.998 0.997 883 B-box-type_zinc_finger . . . TRIM47 212 0 233 37 0.137037037037037 TRUE NA ENSG00000180777.14 . BCM GRCh38.p13 chr18 14837289 14837289 + A A T Missense_Mutation SNP ENST00000358984.9 exon29 c.A2569T p.N857Y exonic ENSG00000180777.14 . nonsynonymous SNV ENSG00000180777.14:ENST00000358984.9:exon29:c.A2569T:p.N857Y 18p11.21 C3N-03061 . . . . . . . . . 2.17 D D . . . N L T N 0.268 T T T 0.075 0.122 0.185 0.086 T T T T T T 1.785 17.620 0.973 N N -0.656 0.888 -0.895 0.626 0.000 0.487 0.574 0.547 0.564 . 1.820 -0.852 -0.205 -0.008 0.487 0.001 0.246 0.042 923 . . . . ANKRD30B 84 0 159 34 0.176165803108808 NA TRUE ENSG00000183287.14 . BCM GRCh38.p13 chr18 59439811 59439811 + G G C Missense_Mutation SNP ENST00000439986.9 exon8 c.C781G p.P261A exonic ENSG00000183287.14 . nonsynonymous SNV ENSG00000183287.14:ENST00000439986.9:exon8:c.C781G:p.P261A 18q21.32 C3N-03061 . . . . . . . . . 6.20 T T B B D D L T N 0.266 T T D 0.343 0.257 0.861 0.200 T T T T D T 2.620 22.700 0.984 D D 0.172 3.183 0.261 3.495 1.000 0.615 0.588 0.659 0.564 . 4.220 4.220 6.191 1.172 0.671 1.000 0.993 0.991 964 . . . . CCBE1 185 0 154 36 0.189473684210526 TRUE TRUE ENSG00000119559.17 . BCM GRCh38.p13 chr19 1475220 1475220 + C C A Missense_Mutation SNP ENST00000585675.6 exon3 c.G169T p.A57S exonic ENSG00000119559.17 . nonsynonymous SNV ENSG00000119559.17:ENST00000585675.6:exon3:c.G169T:p.A57S 19p13.3 C3N-03061 . . . . . . . . . 1.18 T D P B N N L . N 0.134 T T T 0.047 0.114 0.170 0.150 . T T T T T 0.378 5.185 0.987 N N -0.548 1.084 -0.666 0.950 0.999 0.713 0.644 0.636 0.711 . 3.980 2.900 1.039 -0.305 -0.201 0.002 0.029 0.009 964 . . . . C19orf25 170 0 152 29 0.160220994475138 TRUE TRUE ENSG00000187650.4 . BCM GRCh38.p13 chr19 5909096 5909096 + C C T Missense_Mutation SNP ENST00000339485.4 exon2 c.C464T p.A155V exonic ENSG00000187650.4 . nonsynonymous SNV ENSG00000187650.4:ENST00000339485.4:exon2:c.C464T:p.A155V 19p13.3 C3N-03061 9.064e-05 0 0 0 0 0 0 0.0002 rs751669540 0.19 T T B B N N N . N 0.018 T T T 0.030 0.017 0.014 0.482 T T T T T T -0.635 0.061 0.830 N N -1.476 0.089 -1.588 0.079 1.000 0.615 0.634 0.659 0.714 . 4.530 -7.370 -1.195 -1.107 -0.881 0.000 0.000 0.003 878 . . . ID=COSV100258937;OCCURENCE=1(endometrium) VMAC 283 0 242 56 0.187919463087248 TRUE NA ENSG00000187664.9 . BCM GRCh38.p13 chr19 19257908 19257908 + G G T Missense_Mutation SNP ENST00000291481.8 exon5 c.C1118A p.A373E exonic ENSG00000187664.9 . nonsynonymous SNV ENSG00000187664.9:ENST00000291481.8:exon5:c.C1118A:p.A373E 19p13.11 C3N-03061 . . . . . . . . . 2.20 T T P B N N N T N 0.308 T T D 0.077 0.329 0.570 0.809 D T T T T T 2.458 22.300 0.925 N N -0.507 1.162 -0.536 1.144 0.004 0.581 0.547 0.576 0.563 . 4.350 3.250 1.396 1.061 0.649 0.883 0.015 0.091 814 . . . . HAPLN4 188 1 206 31 0.130801687763713 TRUE NA ENSG00000196109.9 . BCM GRCh38.p13 chr19 22180533 22180533 + C C A Missense_Mutation SNP ENST00000397121.3 exon3 c.G1184T p.C395F exonic ENSG00000196109.9 . nonsynonymous SNV ENSG00000196109.9:ENST00000397121.3:exon3:c.G1184T:p.C395F 19p12 C3N-03061 . . . . . . . . . 10.19 D D D D . N H D D 0.177 T D T 0.199 0.922 0.884 0.208 T T T T D D 2.424 22.200 0.965 N N -0.007 2.486 -0.345 1.474 0.000 0.487 0.574 0.574 0.564 . 0.810 -0.534 3.662 0.455 0.203 0.958 0.131 0.003 988 Zinc_finger_C2H2-type . . . ZNF676 353 1 395 48 0.108352144469526 NA TRUE ENSG00000186020.13 . BCM GRCh38.p13 chr19 36546927 36546927 + C C A Missense_Mutation SNP ENST00000591340.6 exon5 c.G1631T p.S544I exonic ENSG00000186020.13 . nonsynonymous SNV ENSG00000186020.13:ENST00000591340.6:exon5:c.G1631T:p.S544I 19q13.12 C3N-03061 . . . . . . . . . 0.15 . T . . . N L T . 0.152 T T T 0.038 . 0.216 0.299 T T T T T T 0.076 1.884 0.599 N N -0.763 0.710 -0.936 0.572 0.456 0.707 0.725 0.609 0.646 . 2.550 1.510 -1.516 -0.021 -0.372 0.000 0.405 0.013 428 Zinc_finger_C2H2-type . . . ZNF529 129 1 139 25 0.152439024390244 TRUE TRUE ENSG00000197863.9 . BCM GRCh38.p13 chr19 36823297 36823297 + C C T Missense_Mutation SNP ENST00000356725.9 exon4 c.G217A p.G73R exonic ENSG00000197863.9 . nonsynonymous SNV ENSG00000197863.9:ENST00000356725.9:exon4:c.G217A:p.G73R 19q13.12 C3N-03061 . . . . . . . . . 0.19 T T B B . N L T N 0.190 T T T 0.018 0.275 0.193 0.058 T T T T T T -0.047 1.068 0.820 N N -1.691 0.038 -1.751 0.042 0.000 0.563 0.588 0.576 0.636 . 3.630 -4.410 -0.230 -1.286 -1.208 0.000 0.000 0.573 584 Krueppel-associated_box . . . ZNF790 134 0 176 28 0.137254901960784 TRUE TRUE ENSG00000179954.16 . BCM GRCh38.p13 chr19 55517478 55517478 + G G A Missense_Mutation SNP ENST00000389623.11 exon14 c.G3202A p.D1068N exonic ENSG00000179954.16 . nonsynonymous SNV ENSG00000179954.16:ENST00000389623.11:exon14:c.G3202A:p.D1068N 19q13.42 C3N-03061 . . . . . . . . . 1.19 T T B B . N N T N 0.048 T T D 0.054 0.182 0.030 0.015 T T T T T T 0.778 9.177 0.969 N N -1.152 0.263 -1.191 0.291 1.000 0.000 0.166 0.585 0.375 . 2.990 0.613 1.167 0.014 -0.293 0.004 0.005 0.112 958 . . . . SSC5D 455 1 501 74 0.128695652173913 TRUE TRUE ENSG00000179954.16 . BCM GRCh38.p13 chr19 55517742 55517742 + G G A Missense_Mutation SNP ENST00000389623.11 exon14 c.G3466A p.D1156N exonic ENSG00000179954.16 . nonsynonymous SNV ENSG00000179954.16:ENST00000389623.11:exon14:c.G3466A:p.D1156N 19q13.42 C3N-03061 . . . . . . . . . 0.19 T T B B . N N T N 0.056 T T T 0.078 0.180 0.030 0.014 T T T T T T -0.558 0.090 0.871 N N -1.567 0.063 -1.676 0.056 1.000 0.609 0.492 0.769 0.445 . 1.650 -3.300 -2.011 -0.435 -0.386 0.000 0.001 0.023 958 . . . . SSC5D 114 0 143 36 0.201117318435754 NA TRUE ENSG00000179954.16 . BCM GRCh38.p13 chr19 55518413 55518413 + G G C Missense_Mutation SNP ENST00000389623.11 exon14 c.G4137C p.Q1379H exonic ENSG00000179954.16 . nonsynonymous SNV ENSG00000179954.16:ENST00000389623.11:exon14:c.G4137C:p.Q1379H 19q13.42 C3N-03061 . . . . . . . . . 4.19 D D P B . N M T N 0.063 T T D 0.106 0.084 0.061 0.014 T T T T T T 0.157 2.648 0.208 N N -0.928 0.486 -1.066 0.411 0.999 0.646 0.588 0.645 0.655 . 2.620 1.530 -0.057 0.205 -0.250 0.000 0.011 0.019 958 . . . . SSC5D 305 0 349 52 0.129675810473815 TRUE TRUE ENSG00000179873.14 . BCM GRCh38.p13 chr19 55817992 55817992 + C C G Missense_Mutation SNP ENST00000589093.5 exon2 c.G183C p.E61D exonic ENSG00000179873.14 . nonsynonymous SNV ENSG00000179873.14:ENST00000589093.5:exon2:c.G183C:p.E61D 19q13.43 C3N-03061 . . . . . . . . . 1.17 . D P P . N L T . 0.232 T T T 0.070 0.469 0.598 . T T T T T T 0.862 10.040 0.995 N N -0.513 1.151 -0.751 0.827 0.002 0.487 0.492 0.574 0.564 . 2.840 0.573 -0.122 -0.843 -0.200 0.005 0.004 0.005 792 DAPIN_domain . . . NLRP11 163 0 184 16 0.08 TRUE TRUE ENSG00000179873.14 . BCM GRCh38.p13 chr19 55818024 55818024 + C C G Missense_Mutation SNP ENST00000589093.5 exon2 c.G151C p.E51Q exonic ENSG00000179873.14 . nonsynonymous SNV ENSG00000179873.14:ENST00000589093.5:exon2:c.G151C:p.E51Q 19q13.43 C3N-03061 . . . . . . . . . 0.17 . T B B . N L T . 0.082 T T T 0.040 0.611 0.423 . T T T T T T -0.023 1.201 0.696 N N -1.257 0.190 -1.314 0.200 0.069 0.487 0.492 0.574 0.564 . 2.840 -0.873 0.088 -0.863 -0.905 0.000 0.000 0.000 792 DAPIN_domain . . . NLRP11 183 0 214 18 0.0775862068965517 TRUE TRUE ENSG00000179873.14 . BCM GRCh38.p13 chr19 55818147 55818147 + C C G Missense_Mutation SNP ENST00000589093.5 exon2 c.G28C p.D10H exonic ENSG00000179873.14 . nonsynonymous SNV ENSG00000179873.14:ENST00000589093.5:exon2:c.G28C:p.D10H 19q13.43 C3N-03061 . . . . . . . . . 3.17 . D D D . N N T . 0.179 T T T 0.131 0.583 0.528 . T T T T T T 2.120 20.300 0.987 N N -0.329 1.545 -0.573 1.087 0.099 0.487 0.480 0.574 0.564 . 2.560 1.460 0.493 0.583 0.580 0.000 0.209 0.051 792 DAPIN_domain . . . NLRP11 69 0 90 8 0.0816326530612245 TRUE TRUE ENSG00000124207.17 . BCM GRCh38.p13 chr20 49066199 49066199 + A A G Missense_Mutation SNP ENST00000262982.3 exon4 c.A236G p.D79G exonic ENSG00000124207.17 . nonsynonymous SNV ENSG00000124207.17:ENST00000262982.3:exon4:c.A236G:p.D79G 20q13.13 C3N-03061 . . . . . . . . . 11.20 T T B B D D L T D 0.711 T T D 0.422 0.629 0.566 0.626 T D D D D D 3.101 23.600 0.993 D D 0.183 3.228 0.337 3.942 1.000 0.719 0.723 0.725 0.714 . 5.620 5.620 9.325 1.312 0.756 1.000 1.000 1.000 917 Importin-beta,_N-terminal_domain . . . CSE1L 132 0 158 21 0.11731843575419 TRUE TRUE ENSG00000124253.11 . BCM GRCh38.p13 chr20 57563084 57563084 + C C T Missense_Mutation SNP ENST00000319441.6 exon5 c.C667T p.P223S exonic ENSG00000124253.11 . nonsynonymous SNV ENSG00000124253.11:ENST00000319441.6:exon5:c.C667T:p.P223S 20q13.31 C3N-03061 . . . . . . . . . 15.20 D D D D D D H T D 0.912 T T D 0.492 0.773 0.555 0.500 T T D D D D 4.036 27.200 0.999 D D 0.962 12.773 0.874 12.691 1.000 0.487 0.563 0.574 0.564 . 5.060 5.060 7.461 1.026 0.599 1.000 0.926 0.881 814 Phosphoenolpyruvate_carboxykinase,_GTP-utilising,_N-terminal . . . PCK1 227 0 212 32 0.131147540983607 TRUE TRUE ENSG00000125522.3 . BCM GRCh38.p13 chr20 64106189 64106189 + A A G Missense_Mutation SNP ENST00000369768.1 exon1 c.T643C p.Y215H exonic ENSG00000125522.3 . nonsynonymous SNV ENSG00000125522.3:ENST00000369768.1:exon1:c.T643C:p.Y215H 20q13.33 C3N-03061 . . . . . . . . . 11.19 D D D D U D M T D 0.423 T T D 0.386 0.733 0.806 0.994 T T T T D . 2.573 22.600 0.996 D D 0.463 4.762 0.238 3.373 1.000 0.403 0.547 0.578 0.613 . 3.900 3.900 6.857 1.093 0.691 1.000 0.028 0.215 . GPCR,_rhodopsin-like,_7TM . . . NPBWR2 162 0 176 24 0.12 TRUE TRUE ENSG00000180530.11 . BCM GRCh38.p13 chr21 14965093 14965093 + A A T Missense_Mutation SNP ENST00000318948.7 exon4 c.T3100A p.S1034T exonic ENSG00000180530.11 . nonsynonymous SNV ENSG00000180530.11:ENST00000318948.7:exon4:c.T3100A:p.S1034T 21q11.2 C3N-03061 . . . . . . . . . 2.20 T T B B N N M T N 0.166 T T T 0.052 0.170 0.413 0.026 T T T T T T 1.623 16.520 0.844 D N -0.666 0.872 -0.572 1.088 0.999 0.737 0.710 0.659 0.678 . 5.610 -0.186 0.606 0.272 0.756 0.999 0.240 0.975 994 Nuclear_receptor-interacting_protein_1,_repression_domain_4 . . . NRIP1 134 0 172 14 0.0752688172043011 TRUE TRUE ENSG00000183117.19 . BCM GRCh38.p13 chr8 3052461 3052461 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000183117.19 ENST00000635120.2:exon50:c.7660+1G>A . . 8p23.2 C3N-03061 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.068 33 0.987 D . 0.992 13.679 0.789 9.806 1.000 0.066 0.063 0.091 0.057 0.967 5.320 5.320 6.306 0.941 0.599 1.000 0.282 0.009 923 . . . ID=COSV59289275;OCCURENCE=3(oesophagus),1(large_intestine),1(haematopoietic_and_lymphoid_tissue) CSMD1 66 0 76 8 0.0952380952380952 TRUE TRUE ENSG00000116981.3 . BCM GRCh38.p13 chr1 39659178 39659178 + A A G Silent SNP ENST00000235628.1 exon6 c.T1050C p.G350G exonic ENSG00000116981.3 . synonymous SNV ENSG00000116981.3:ENST00000235628.1:exon6:c.T1050C:p.G350G 1p34.2 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52496025;OCCURENCE=1(stomach) NT5C1A 175 0 114 31 0.213793103448276 TRUE TRUE ENSG00000117600.12 . BCM GRCh38.p13 chr1 99305912 99305912 + C C A Silent SNP ENST00000370185.7 exon7 c.C1194A p.I398I exonic ENSG00000117600.12 . synonymous SNV ENSG00000117600.12:ENST00000370185.7:exon7:c.C1194A:p.I398I 1p21.2 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLPPR4 256 2 245 17 0.0648854961832061 TRUE TRUE ENSG00000134323.12 . BCM GRCh38.p13 chr2 15942721 15942721 + C C T Silent SNP ENST00000281043.4 exon2 c.C657T p.V219V exonic ENSG00000134323.12 . synonymous SNV ENSG00000134323.12:ENST00000281043.4:exon2:c.C657T:p.V219V 2p24.3 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYCN 38 0 52 8 0.133333333333333 TRUE TRUE ENSG00000019169.10 . BCM GRCh38.p13 chr2 118994400 118994400 + C C T Silent SNP ENST00000327097.4 exon17 c.C1443T p.I481I exonic ENSG00000019169.10 . synonymous SNV ENSG00000019169.10:ENST00000327097.4:exon17:c.C1443T:p.I481I 2q14.2 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARCO 197 0 225 28 0.110671936758893 TRUE TRUE ENSG00000008300.17 . BCM GRCh38.p13 chr3 48661258 48661258 + G G A Silent SNP ENST00000164024.5 exon1 c.C1377T p.D459D exonic ENSG00000008300.17 . synonymous SNV ENSG00000008300.17:ENST00000164024.5:exon1:c.C1377T:p.D459D 3p21.31 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CELSR3 163 0 144 34 0.191011235955056 TRUE TRUE ENSG00000048828.17 . BCM GRCh38.p13 chr9 93532214 93532214 + C C A Silent SNP ENST00000277165.11 exon10 c.C1794A p.A598A exonic ENSG00000048828.17 . synonymous SNV ENSG00000048828.17:ENST00000277165.11:exon10:c.C1794A:p.A598A 9q22.31 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM120A 259 0 192 29 0.131221719457014 TRUE TRUE ENSG00000166341.8 . BCM GRCh38.p13 chr11 6626012 6626012 + G G C Silent SNP ENST00000299441.5 exon17 c.C6639G p.S2213S exonic ENSG00000166341.8 . synonymous SNV ENSG00000166341.8:ENST00000299441.5:exon17:c.C6639G:p.S2213S 11p15.4 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DCHS1 259 0 251 26 0.0938628158844765 TRUE TRUE ENSG00000214517.10 . BCM GRCh38.p13 chr11 74230389 74230389 + T T C Silent SNP ENST00000328257.13 exon6 c.T543C p.D181D exonic ENSG00000214517.10 . synonymous SNV ENSG00000214517.10:ENST00000328257.13:exon6:c.T543C:p.D181D 11q13.4 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60297014;OCCURENCE=1(large_intestine) PPME1 232 0 279 43 0.133540372670807 TRUE TRUE ENSG00000111218.12 . BCM GRCh38.p13 chr12 3569518 3569518 + C C T Silent SNP ENST00000382622.4 exon6 c.C666T p.Y222Y exonic ENSG00000111218.12 . synonymous SNV ENSG00000111218.12:ENST00000382622.4:exon6:c.C666T:p.Y222Y 12p13.32 C3N-03061 2.471e-05 0 8.637e-05 0 0 1.498e-05 0 6.056e-05 rs763610227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99713579;OCCURENCE=1(large_intestine) PRMT8 320 0 474 55 0.103969754253308 TRUE NA ENSG00000111262.6 . BCM GRCh38.p13 chr12 4912425 4912425 + G G A Silent SNP ENST00000382545.5 exon2 c.G1047A p.A349A exonic ENSG00000111262.6 . synonymous SNV ENSG00000111262.6:ENST00000382545.5:exon2:c.G1047A:p.A349A 12p13.32 C3N-03061 3.295e-05 0 8.637e-05 0.0002 0 1.499e-05 0 0 rs748570236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66836519;OCCURENCE=1(large_intestine),1(stomach),1(upper_aerodigestive_tract) KCNA1 212 0 288 32 0.1 TRUE TRUE ENSG00000175548.9 . BCM GRCh38.p13 chr12 38318317 38318317 + C C T Silent SNP ENST00000308742.9 exon2 c.C228T p.V76V exonic ENSG00000175548.9 . synonymous SNV ENSG00000175548.9:ENST00000308742.9:exon2:c.C228T:p.V76V 12q12 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ALG10B 407 1 489 79 0.139084507042254 NA TRUE ENSG00000261308.2 . BCM GRCh38.p13 chr12 51821751 51821751 + C C T Silent SNP ENST00000618634.2 exon2 c.G663A p.P221P exonic ENSG00000261308.2 . synonymous SNV ENSG00000261308.2:ENST00000618634.2:exon2:c.G663A:p.P221P 12q13.13 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FIGNL2 23 0 38 9 0.191489361702128 TRUE NA ENSG00000132952.12 . BCM GRCh38.p13 chr13 30657646 30657646 + C C T Silent SNP ENST00000255304.9 exon9 c.C1569T p.L523L exonic ENSG00000132952.12 . synonymous SNV ENSG00000132952.12:ENST00000255304.9:exon9:c.C1569T:p.L523L 13q12.3 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USPL1 194 0 187 35 0.157657657657658 TRUE TRUE ENSG00000133101.10 . BCM GRCh38.p13 chr13 36438818 36438818 + C C T Silent SNP ENST00000255465.7 exon5 c.C844T p.L282L exonic ENSG00000133101.10 . synonymous SNV ENSG00000133101.10:ENST00000255465.7:exon5:c.C844T:p.L282L 13q13.3 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCNA1 292 0 279 54 0.162162162162162 TRUE TRUE ENSG00000123191.16 . BCM GRCh38.p13 chr13 51937485 51937485 + G G C Silent SNP ENST00000242839.10 exon18 c.C3894G p.V1298V exonic ENSG00000123191.16 . synonymous SNV ENSG00000123191.16:ENST00000242839.10:exon18:c.C3894G:p.V1298V 13q14.3 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP7B 672 0 745 105 0.123529411764706 TRUE TRUE ENSG00000123191.16 . BCM GRCh38.p13 chr13 51937572 51937572 + G G T Silent SNP ENST00000242839.10 exon18 c.C3807A p.V1269V exonic ENSG00000123191.16 . synonymous SNV ENSG00000123191.16:ENST00000242839.10:exon18:c.C3807A:p.V1269V 13q14.3 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP7B 610 2 728 106 0.127098321342926 TRUE TRUE ENSG00000102935.11 . BCM GRCh38.p13 chr16 49637328 49637328 + G G A Silent SNP ENST00000561648.5 exon5 c.C1824T p.S608S exonic ENSG00000102935.11 . synonymous SNV ENSG00000102935.11:ENST00000561648.5:exon5:c.C1824T:p.S608S 16q12.1 C3N-03061 9.892e-05 9.621e-05 0 0 0 7.5e-05 0.0011 0.0003 rs376218086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF423 230 1 238 33 0.121771217712177 TRUE NA ENSG00000007174.18 . BCM GRCh38.p13 chr17 11854032 11854032 + C C T Silent SNP ENST00000262442.9 exon50 c.C9537T p.G3179G exonic ENSG00000007174.18 . synonymous SNV ENSG00000007174.18:ENST00000262442.9:exon50:c.C9537T:p.G3179G 17p12 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH9 152 0 184 23 0.111111111111111 TRUE TRUE ENSG00000141564.15 . BCM GRCh38.p13 chr17 80962997 80962997 + C C T Silent SNP ENST00000306801.8 exon33 c.C3879T p.Y1293Y exonic ENSG00000141564.15 . synonymous SNV ENSG00000141564.15:ENST00000306801.8:exon33:c.C3879T:p.Y1293Y 17q25.3 C3N-03061 5.446e-05 0 0.0005 0 0 1.656e-05 0 0 rs781681867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPTOR 312 0 353 45 0.113065326633166 TRUE NA ENSG00000179954.16 . BCM GRCh38.p13 chr19 55518767 55518767 + G G A Silent SNP ENST00000389623.11 exon14 c.G4491A p.V1497V exonic ENSG00000179954.16 . synonymous SNV ENSG00000179954.16:ENST00000389623.11:exon14:c.G4491A:p.V1497V 19q13.42 C3N-03061 5.263e-05 0 0 0 0 0.0001 0 0 rs775432888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSC5D 407 0 444 70 0.136186770428016 TRUE NA ENSG00000179954.16 . BCM GRCh38.p13 chr19 55518875 55518875 + G G C Silent SNP ENST00000389623.11 exon14 c.G4599C p.R1533R exonic ENSG00000179954.16 . synonymous SNV ENSG00000179954.16:ENST00000389623.11:exon14:c.G4599C:p.R1533R 19q13.42 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SSC5D 382 0 465 72 0.134078212290503 TRUE TRUE ENSG00000088882.8 . BCM GRCh38.p13 chr20 2797971 2797971 + G G A Silent SNP ENST00000380605.3 exon5 c.C678T p.D226D exonic ENSG00000088882.8 . synonymous SNV ENSG00000088882.8:ENST00000380605.3:exon5:c.C678T:p.D226D 20p13 C3N-03061 . . . . . . . . rs375748016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPXM1 121 0 146 14 0.0875 TRUE NA ENSG00000124208.16 . BCM GRCh38.p13 chr20 50129586 50129586 + C C T Silent SNP ENST00000341698.2 exon4 c.G438A p.P146P exonic ENSG00000124208.16;ENSG00000240849.11 . synonymous SNV ENSG00000124208.16:ENST00000341698.2:exon4:c.G438A:p.P146P,ENSG00000240849.11:ENST00000371652.9:exon4:c.G438A:p.P146P 20q13.13 C3N-03061 1.65e-05 0 0 0 0 1.5e-05 0 6.058e-05 rs150986496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM189-UBE2V1 218 0 232 32 0.121212121212121 TRUE NA ENSG00000185340.15 . BCM GRCh38.p13 chr22 29311642 29311642 + G G A Silent SNP ENST00000618518.3 exon5 c.G1191A p.R397R exonic ENSG00000185340.15 . synonymous SNV ENSG00000185340.15:ENST00000618518.3:exon5:c.G1191A:p.R397R 22q12.2 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GAS2L1 159 0 170 28 0.141414141414141 TRUE NA ENSG00000147100.11 . BCM GRCh38.p13 chrX 74421712 74421712 + G G T Silent SNP ENST00000587091.6 exon1 c.G75T p.P25P exonic ENSG00000147100.11 . synonymous SNV ENSG00000147100.11:ENST00000587091.6:exon1:c.G75T:p.P25P Xq13.2 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC16A2 470 0 398 74 0.156779661016949 TRUE TRUE ENSG00000185008.17 . BCM GRCh38.p13 chr3 77632578 77632578 + G G A Intron SNP NA NA NA NA intronic ENSG00000185008.17 . . . 3p12.3 C3N-03061 0.0002 0.0036 0 0 0 0 0 0 rs753114815 3.15 T T B B . . . T N 0.237 T T T 0.040 0.241 0.329 . . . T T T D 2.124 20.300 0.980 D D -0.141 2.048 0.025 2.447 0.000 0.554 0.574 0.618 0.564 . 5.490 3.670 4.812 1.176 0.676 1.000 1.000 0.995 571 . . . . ROBO2 120 0 113 19 0.143939393939394 TRUE NA ENSG00000129055.12 . BCM GRCh38.p13 chr3 134478588 134478588 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000129055.12 ENST00000510994.5:c.*2G>A . . 3q22.2 C3N-03061 9.062e-05 0.0008 0.0002 0 0 1.499e-05 0 0 rs151170068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANAPC13 89 0 76 14 0.155555555555556 TRUE NA ENSG00000172432.19 . BCM GRCh38.p13 chr6 43622000 43622000 + C C T Intron SNP NA NA NA NA intronic ENSG00000172432.19 . . . 6p21.1 C3N-03061 0.0001 0 0 0 0 0 0 0.0008 rs112143094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTPBP2 487 0 529 67 0.11241610738255 TRUE NA ENSG00000216854.2 . BCM GRCh38.p13 chr6 56900474 56900474 + G G A IGR SNP NA NA NA NA intergenic ENSG00000216854.2;ENSG00000200224.2 dist=28731;dist=45256 . . 6p12.1 C3N-03061 . . . . . . . . . 3.4 . . . . . . . . . . . . . . . . . . . D D . . 6.975 36 0.998 D N 0.747 7.828 0.606 6.295 1.000 0.651 0.588 0.651 0.621 . 4.800 4.800 3.787 1.176 0.676 1.000 0.996 0.983 351 . . . . RPL17P26 259 0 318 26 0.0755813953488372 TRUE TRUE ENSG00000153930.12 . BCM GRCh38.p13 chr17 56492249 56492249 + G G A IGR SNP NA NA NA NA intergenic ENSG00000153930.12;ENSG00000243058.1 dist=9603;dist=80791 . . 17q22 C3N-03061 . . . . . . . . . 6.10 . D . . . D . T . 0.771 . . D . . 0.742 . . T T T . D 4.082 27.600 0.998 D D . . . . 1.000 0.487 0.590 0.574 0.530 . 5.540 5.540 9.402 1.176 0.618 1.000 1.000 0.998 95 . . . . ANKFN1 205 0 187 31 0.142201834862385 TRUE TRUE ENSG00000105705.16 . BCM GRCh38.p13 chr19 19303991 19303991 + C C T Intron SNP NA NA NA NA intronic ENSG00000105705.16 . . . 19p13.11 C3N-03061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUGP1 54 0 51 9 0.15 TRUE NA ENSG00000130985.17 . BCM GRCh38.p13 chrX 47198245 47198245 + G G A Intron SNP NA NA NA NA intronic ENSG00000130985.17 . . . Xp11.3 C3N-03061 9.145e-05 0 0 0 0 0 0 0.0002 rs782182393 1.12 D . . . . N . T N . T T . 0.062 0.217 0.315 . . T T T T T -0.066 0.974 0.480 N . . . . . 0.999 . . . . . 1.810 -0.247 -0.155 -1.977 -0.813 0.000 0.000 0.002 465 . . . . UBA1 157 0 157 22 0.122905027932961 TRUE NA ENSG00000171612.7 . BCM GRCh38.p13 chr1 9539717 9539717 + A A G Missense_Mutation SNP ENST00000302692.7 exon1 c.A26G p.E9G exonic ENSG00000171612.7 . nonsynonymous SNV ENSG00000171612.7:ENST00000302692.7:exon1:c.A26G:p.E9G 1p36.22 C3L-04848 . . . . . . . . . 6.20 D T B B U D N T N 0.209 T T D 0.210 0.361 0.558 0.534 D T T T D T 3.659 25.200 0.995 D N -0.363 1.466 -0.220 1.739 1.000 0.243 0.484 0.391 0.492 . 3.350 3.350 1.127 1.174 0.551 1.000 1.000 0.985 912 . . . . SLC25A33 173 0 233 16 0.0642570281124498 NA TRUE ENSG00000068781.21 . BCM GRCh38.p13 chr2 48646790 48646790 + C C G Missense_Mutation SNP ENST00000403751.8 exon6 c.C726G p.I242M exonic ENSG00000068781.21;ENSG00000242441.8 . nonsynonymous SNV ENSG00000242441.8:ENST00000403751.8:exon6:c.C726G:p.I242M,ENSG00000068781.21:ENST00000394754.5:exon8:c.C2838G:p.I946M 2p16.3 C3L-04848 8.237e-06 9.612e-05 0 0 0 0 0 0 rs149659316 0.20 T T B B N N L T N 0.130 T T T 0.123 . 0.030 0.007 T T T T T T 0.438 5.844 0.325 N N -1.069 0.335 -1.089 0.387 0.000 0.554 0.574 0.618 0.621 . 4.880 -0.564 0.073 1.026 0.549 0.000 0.043 0.129 534 . . . . STON1-GTF2A1L 234 0 345 43 0.110824742268041 TRUE NA ENSG00000066032.18 . BCM GRCh38.p13 chr2 79909792 79909792 + A A C Missense_Mutation SNP ENST00000402739.8 exon6 c.A1051C p.N351H exonic ENSG00000066032.18 . nonsynonymous SNV ENSG00000066032.18:ENST00000402739.8:exon6:c.A1051C:p.N351H 2p12 C3L-04848 . . . . . . . . . 9.20 D T D P N D L T D 0.449 T T D 0.120 0.460 0.556 1.366 D T T T T D 3.311 24.200 0.997 D D 0.557 5.516 0.557 5.726 0.971 0.615 0.574 0.659 0.564 . 5.600 5.600 2.853 1.312 0.691 1.000 1.000 0.995 981 . . . ID=COSV63547281;OCCURENCE=1(ovary),1(soft_tissue),1(prostate),2(upper_aerodigestive_tract),1(endometrium) CTNNA2 141 0 198 65 0.247148288973384 NA TRUE ENSG00000163702.20 . BCM GRCh38.p13 chr3 9933171 9933171 + T T - Frame_Shift_Del NA ENST00000295981.7 exon19 c.1954delT p.F652Sfs*142 exonic ENSG00000163702.20 . frameshift deletion ENSG00000163702.20:ENST00000295981.7:exon19:c.1954delT:p.F652Sfs*142 3p25.3 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL17RC 152 0 248 24 0.0882352941176471 NA TRUE ENSG00000173585.16 . BCM GRCh38.p13 chr3 45901731 45901731 + G G A Missense_Mutation SNP ENST00000357632.7 exon3 c.G943A p.V315I exonic ENSG00000173585.16 . nonsynonymous SNV ENSG00000173585.16:ENST00000357632.7:exon3:c.G943A:p.V315I 3p21.31 C3L-04848 . . . . . . . . . 4.20 T T B B D D L T N 0.026 T T T 0.077 0.321 0.458 0.261 T T T T D T 1.185 13.520 0.996 D N -0.188 1.909 -0.059 2.168 1.000 0.635 0.644 0.547 0.542 . 4.960 4.960 0.741 1.176 0.676 0.373 0.942 0.974 484 GPCR,_rhodopsin-like,_7TM . . . CCR9 133 0 260 20 0.0714285714285714 TRUE TRUE ENSG00000236980.10 . BCM GRCh38.p13 chr3 49178025 49178025 + C C T Missense_Mutation SNP ENST00000545770.7 exon4 c.G226A p.G76R exonic ENSG00000236980.10 . nonsynonymous SNV ENSG00000236980.10:ENST00000545770.7:exon4:c.G226A:p.G76R 3p21.31 C3L-04848 9.439e-06 0 0 0 0 1.674e-05 0 0 rs754289775 7.13 D D . . . D M T D 0.608 . . D . . 0.880 0.538 . T T T . T 3.191 23.800 0.998 D N . . . . 0.981 0.497 0.590 0.578 0.646 . 4.900 4.030 1.395 0.128 -0.175 0.990 0.988 0.977 0 Domain_of_unknown_function_with_conserved_HDNR_motif . . ID=COSV60412884;OCCURENCE=1(large_intestine) C3orf84 105 0 152 18 0.105882352941176 TRUE TRUE ENSG00000127249.15 . BCM GRCh38.p13 chr3 193464975 193464975 + C C T Missense_Mutation SNP ENST00000342695.9 exon12 c.G1426A p.V476I exonic ENSG00000127249.15 . nonsynonymous SNV ENSG00000127249.15:ENST00000342695.9:exon12:c.G1426A:p.V476I 3q29 C3L-04848 1.648e-05 0 0 0.0001 0 1.499e-05 0 0 rs759539336 3.20 T T B B N D N D N 0.172 T T T 0.191 0.481 0.567 0.093 T T T T T T 0.761 9.013 0.071 D N -0.721 0.778 -0.556 1.113 0.000 0.487 0.574 0.574 0.564 . 6.170 3.080 0.796 1.026 0.599 0.982 0.989 0.887 940 . . . ID=COSV55066550;OCCURENCE=1(large_intestine) ATP13A4 197 0 258 19 0.0685920577617329 TRUE TRUE ENSG00000164190.19 . BCM GRCh38.p13 chr5 37006360 37006360 + A A G Missense_Mutation SNP ENST00000282516.13 exon17 c.A3859G p.N1287D exonic ENSG00000164190.19 . nonsynonymous SNV ENSG00000164190.19:ENST00000282516.13:exon17:c.A3859G:p.N1287D 5p13.2 C3L-04848 . . . . . . . . . 7.20 T T B B D D L T N 0.358 T T T 0.093 0.282 0.613 1.776 D T T T D D 2.179 20.700 0.986 D D -0.221 1.819 -0.006 2.340 1.000 0.707 0.725 0.659 0.714 . 5.610 5.610 4.545 1.312 0.754 1.000 0.996 0.942 128 . . . . NIPBL 147 0 252 25 0.0902527075812274 TRUE TRUE ENSG00000203909.4 . BCM GRCh38.p13 chr6 73353909 73353909 + C C T Missense_Mutation SNP ENST00000370370.4 exon2 c.G236A p.R79Q exonic ENSG00000203909.4 . nonsynonymous SNV ENSG00000203909.4:ENST00000370370.4:exon2:c.G236A:p.R79Q 6q13 C3L-04848 . . . . . . . . . 2.20 T T B B D N M T N 0.410 T T T 0.042 0.651 0.076 0.954 T T T T T T 1.075 12.520 0.983 N N -0.687 0.835 -0.789 0.774 0.001 0.646 0.588 0.645 0.542 . 3.740 1.950 0.827 0.804 0.465 0.053 0.066 0.004 852 KH-like_RNA-binding_domain . . ID=COSV64875412;OCCURENCE=2(large_intestine) DPPA5 217 0 397 39 0.0894495412844037 NA TRUE ENSG00000077782.21 . BCM GRCh38.p13 chr8 38457373 38457373 + G G - Frame_Shift_Del NA ENST00000447712.7 exon2 c.74delC p.P25Rfs*78 exonic ENSG00000077782.21 . frameshift deletion ENSG00000077782.21:ENST00000447712.7:exon2:c.74delC:p.P25Rfs*78 8p11.23 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FGFR1 341 0 505 72 0.124783362218371 TRUE TRUE ENSG00000164796.18 . BCM GRCh38.p13 chr8 112304867 112304867 + C C T Nonsense_Mutation SNP ENST00000297405.10 exon52 c.G8120A p.W2707X exonic ENSG00000164796.18 . stopgain ENSG00000164796.18:ENST00000297405.10:exon52:c.G8120A:p.W2707X 8q23.3 C3L-04848 . . . . . . . . . 5.6 . . . . D D . . . 0.566 . . . . . . . . . D D . . 8.761 45 0.996 D N 0.982 13.377 0.859 12.099 1.000 0.487 0.574 0.574 0.564 . 5.180 5.180 7.879 1.026 0.599 1.000 1.000 0.999 849 Sushi/SCR/CCP_domain . . ID=COSV52126876;OCCURENCE=1(cervix) CSMD3 339 0 527 29 0.052158273381295 TRUE NA ENSG00000147799.11 . BCM GRCh38.p13 chr8 144547273 144547273 + C C T Missense_Mutation SNP ENST00000276826.5 exon4 c.G1813A p.E605K exonic ENSG00000147799.11 . nonsynonymous SNV ENSG00000147799.11:ENST00000276826.5:exon4:c.G1813A:p.E605K 8q24.3 C3L-04848 . . . . . . . . . 11.20 T T D D N D M T N 0.750 T T D 0.237 0.392 0.772 1.225 T T D D D D 3.299 24.100 0.999 D D 0.437 4.580 0.434 4.611 1.000 0.646 0.547 0.645 0.700 . 5.050 5.050 3.769 1.026 0.599 1.000 0.910 0.855 878 . . . . ARHGAP39 290 0 431 75 0.148221343873518 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971187 21971187 + G G - Frame_Shift_Del NA ENST00000304494.9 exon2 c.172delC p.R58Efs*88 exonic ENSG00000147889.17 . frameshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.172delC:p.R58Efs*88 9p21.3 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 487 0 645 96 0.129554655870445 NA TRUE ENSG00000148337.21 . BCM GRCh38.p13 chr9 128180487 128180487 + T T C Missense_Mutation SNP ENST00000372938.10 exon7 c.A719G p.K240R exonic ENSG00000148337.21 . nonsynonymous SNV ENSG00000148337.21:ENST00000372938.10:exon7:c.A719G:p.K240R 9q34.11 C3L-04848 . . . . . . . . . 1.20 D T P B N N L T N 0.147 T T T 0.015 0.323 0.527 0.293 T T T T T T 1.227 13.850 0.977 N N -0.590 1.005 -0.617 1.021 0.998 0.707 0.725 0.725 0.714 . 4.210 3.140 0.687 0.200 0.665 0.221 0.006 0.019 451 . . . . CIZ1 175 0 315 27 0.0789473684210526 TRUE TRUE ENSG00000110148.10 . BCM GRCh38.p13 chr11 6270255 6270255 + G G A Missense_Mutation SNP ENST00000334619.7 exon3 c.G571A p.V191M exonic ENSG00000110148.10 . nonsynonymous SNV ENSG00000110148.10:ENST00000334619.7:exon3:c.G571A:p.V191M 11p15.4 C3L-04848 . . . . . . . . . 12.20 D D D D D D M T N 0.526 D T D 0.444 0.541 0.810 1.044 T T D T D D 3.400 24.400 0.998 N N 0.465 4.776 0.392 4.302 1.000 0.778 0.616 0.854 0.584 . 4.810 4.810 0.686 1.176 0.676 0.223 0.948 0.885 595 GPCR,_rhodopsin-like,_7TM . . ID=COSV58099194;OCCURENCE=1(cervix),1(large_intestine),1(haematopoietic_and_lymphoid_tissue) CCKBR 300 0 422 59 0.122661122661123 TRUE TRUE ENSG00000186714.12 . BCM GRCh38.p13 chr11 32654942 32654942 + T T G Missense_Mutation SNP ENST00000335185.9 exon10 c.A676C p.K226Q exonic ENSG00000186714.12 . nonsynonymous SNV ENSG00000186714.12:ENST00000335185.9:exon10:c.A676C:p.K226Q 11p13 C3L-04848 . . . . . . . . . 7.18 D T D D . N M . N 0.451 T T T 0.086 0.179 0.327 0.558 T T T T D T 3.636 25.200 0.992 D D 0.583 5.755 0.578 5.955 0.412 0.487 0.574 0.574 0.564 . 5.670 5.670 5.175 1.138 0.609 1.000 0.997 0.856 368 . . . . CCDC73 122 0 210 19 0.0829694323144105 TRUE TRUE ENSG00000110436.13 . BCM GRCh38.p13 chr11 35265741 35265741 + G G A Missense_Mutation SNP ENST00000278379.9 exon10 c.C1439T p.S480L exonic ENSG00000110436.13 . nonsynonymous SNV ENSG00000110436.13:ENST00000278379.9:exon10:c.C1439T:p.S480L 11p13 C3L-04848 . . . . . . . . . 17.20 D D D D D D M T D 0.952 T T D 0.589 0.592 0.824 1.372 D D D D D D 4.148 28.200 0.998 D D 0.544 5.396 0.559 5.745 1.000 0.603 0.575 0.602 0.663 . 5.690 5.690 9.516 1.176 0.676 1.000 0.998 0.951 521 . . . . SLC1A2 121 0 151 11 0.0679012345679012 TRUE TRUE ENSG00000255012.2 . BCM GRCh38.p13 chr11 56613139 56613139 + G G A Missense_Mutation SNP ENST00000641076.1 exon2 c.C364T p.R122C exonic ENSG00000255012.2 . nonsynonymous SNV ENSG00000255012.2:ENST00000641076.1:exon2:c.C364T:p.R122C 11q12.1 C3L-04848 7.46e-05 0 0.0006 0 0 0 0 0.0001 rs189610087 7.20 D D P B N D M T D 0.558 T T D 0.419 . 0.845 0.455 T T T T T T 1.809 17.800 0.993 D N -0.061 2.300 -0.089 2.077 0.000 0.487 0.574 0.574 0.564 . 3.710 2.770 0.195 0.122 0.302 0.036 0.002 0.880 306 GPCR,_rhodopsin-like,_7TM . . ID=COSV73202421;OCCURENCE=3(skin) OR5M1 228 0 256 19 0.0690909090909091 NA TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-04848 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 274 0 418 62 0.129166666666667 TRUE TRUE ENSG00000139174.12 . BCM GRCh38.p13 chr12 42460281 42460281 + C C T Missense_Mutation SNP ENST00000345127.9 exon8 c.G2024A p.R675H exonic ENSG00000139174.12 . nonsynonymous SNV ENSG00000139174.12:ENST00000345127.9:exon8:c.G2024A:p.R675H 12q12 C3L-04848 . . . . . . . . . 5.20 T T B B N D N D N 0.164 T T D 0.276 0.185 0.394 0.436 T T T T T D 1.918 18.630 0.970 D N -0.391 1.402 -0.253 1.663 0.985 0.722 0.588 0.699 0.711 . 5.530 3.320 1.717 -0.214 -0.172 1.000 0.957 0.989 503 . . . ID=COSV58207605;OCCURENCE=1(oesophagus),2(large_intestine),1(stomach) PRICKLE1 489 0 641 97 0.131436314363144 TRUE TRUE ENSG00000135127.11 . BCM GRCh38.p13 chr12 119998656 119998656 + C C T Missense_Mutation SNP ENST00000397558.6 exon2 c.C565T p.R189W exonic ENSG00000135127.11 . nonsynonymous SNV ENSG00000135127.11:ENST00000397558.6:exon2:c.C565T:p.R189W 12q24.23 C3L-04848 . . . . . . . . . 13.19 D D D D D D . T D 0.221 T T T 0.172 0.209 0.802 0.491 T T D D D D 3.793 25.800 0.999 D D 0.675 6.788 0.638 6.741 1.000 0.706 0.710 0.710 0.530 . 5.040 5.040 2.284 1.026 0.599 0.987 0.997 1.000 820 . . . . BICDL1 265 0 309 52 0.14404432132964 TRUE NA ENSG00000178235.8 . BCM GRCh38.p13 chr13 83880697 83880697 + G G A Missense_Mutation SNP ENST00000377084.3 exon1 c.C811T p.L271F exonic ENSG00000178235.8 . nonsynonymous SNV ENSG00000178235.8:ENST00000377084.3:exon1:c.C811T:p.L271F 13q31.1 C3L-04848 . . . . . . . . . 5.20 T T P P D D L T N 0.339 T T T 0.073 0.263 0.165 1.023 T T T T D D 2.902 23.200 0.985 D N 0.130 3.007 0.215 3.260 0.990 0.767 0.547 0.851 0.564 . 4.710 4.710 3.077 1.176 0.676 1.000 1.000 0.997 973 . . . . SLITRK1 154 0 256 24 0.0857142857142857 TRUE TRUE ENSG00000179455.9 . BCM GRCh38.p13 chr15 23566993 23566993 + C C T Missense_Mutation SNP ENST00000314520.6 exon1 c.C1211T p.A404V exonic ENSG00000179455.9 . nonsynonymous SNV ENSG00000179455.9:ENST00000314520.6:exon1:c.C1211T:p.A404V 15q11.2 C3L-04848 2.471e-05 0 0 0 0 1.498e-05 0 0.0001 rs776896408 3.19 T T D B D D L T N 0.169 T T T 0.099 0.329 0.631 0.089 T T T T T T 1.467 15.530 0.893 N . -0.537 1.105 -0.663 0.953 1.000 0.554 0.574 0.574 0.621 . 4.010 0.897 2.226 0.063 0.599 0.954 0.719 0.658 994 Zinc_finger,_CCCH-type . . . MKRN3 423 1 600 81 0.118942731277533 TRUE NA ENSG00000161996.19 . BCM GRCh38.p13 chr16 651088 651088 + G G A Missense_Mutation SNP ENST00000293879.9 exon6 c.G653A p.R218H exonic ENSG00000161996.19 . nonsynonymous SNV ENSG00000161996.19:ENST00000293879.9:exon6:c.G653A:p.R218H 16p13.3 C3L-04848 6.672e-05 0.0001 0 0 0 0.0001 0 0 rs778872146 1.20 T T B B N D N T N 0.103 T T T 0.036 0.682 0.014 0.142 T T T T T T -0.365 0.227 0.900 N N -1.501 0.081 -1.563 0.086 1.000 0.635 0.644 0.723 0.700 . 4.950 -4.990 -0.807 -0.775 -0.633 0.000 0.004 0.007 649 . . . . WDR90 275 0 488 60 0.109489051094891 TRUE NA ENSG00000103174.13 . BCM GRCh38.p13 chr16 5028045 5028045 + C C T Missense_Mutation SNP ENST00000312251.8 exon6 c.G1061A p.G354D exonic ENSG00000103174.13 . nonsynonymous SNV ENSG00000103174.13:ENST00000312251.8:exon6:c.G1061A:p.G354D 16p13.3 C3L-04848 . . . . . . . . . 15.20 D D D D D D M T D 0.859 D D D 0.380 0.925 0.806 0.141 T D T T D T 2.428 22.200 0.998 D D 0.638 6.338 0.422 4.517 1.000 0.660 0.694 0.723 0.655 . 4.030 4.030 4.691 1.026 0.599 0.998 0.005 0.001 867 . . . . NAGPA 481 0 867 50 0.054525627044711 TRUE TRUE ENSG00000273559.5 . BCM GRCh38.p13 chr17 38802836 38802836 + G G A Nonsense_Mutation SNP ENST00000614790.5 exon9 c.C1027T p.R343X exonic ENSG00000273559.5 . stopgain ENSG00000273559.5:ENST00000614790.5:exon9:c.C1027T:p.R343X 17q12 C3L-04848 1.656e-05 0 0 0 0.0002 0 0 6.056e-05 rs760543725 4.6 . . . . N A . . . 0.275 . . . . . . . . . D D . . 7.705 39 0.997 D N 0.706 7.200 0.578 5.963 1.000 0.707 0.725 0.725 0.714 . 5.880 4.900 1.554 1.176 0.676 0.984 0.998 0.997 352 . . . . CWC25 156 0 265 19 0.0669014084507042 TRUE NA ENSG00000101203.16 . BCM GRCh38.p13 chr20 63309378 63309378 + C C T Missense_Mutation SNP ENST00000358894.10 exon9 c.C986T p.P329L exonic ENSG00000101203.16 . nonsynonymous SNV ENSG00000101203.16:ENST00000358894.10:exon9:c.C986T:p.P329L 20q13.33 C3L-04848 . . . . . . . . rs749535969 2.20 T T B B N N N D N 0.152 T T D 0.136 . 0.741 0.036 T T T T T T 0.309 4.389 0.885 N N -1.066 0.338 -1.159 0.319 0.570 0.526 0.547 0.600 0.584 . 4.630 -4.100 -0.078 -0.590 0.450 0.001 0.000 0.008 . von_Willebrand_factor,_type_A . . ID=COSV58920416;OCCURENCE=1(large_intestine) COL20A1 109 0 235 16 0.0637450199203187 TRUE TRUE ENSG00000183579.16 . BCM GRCh38.p13 chr22 29043419 29043419 + C C T Missense_Mutation SNP ENST00000544604.7 exon4 c.C622T p.R208C exonic ENSG00000183579.16 . nonsynonymous SNV ENSG00000183579.16:ENST00000544604.7:exon4:c.C622T:p.R208C 22q12.1 C3L-04848 . . . . . . . . . 12.20 D D D P D D L T D 0.495 T T D 0.245 0.409 0.117 1.338 D T T T D D 4.103 27.800 0.999 D D 0.512 5.132 0.587 6.065 1.000 0.732 0.588 0.744 0.655 . 6.070 6.070 2.565 1.026 0.599 1.000 1.000 0.987 520 . . . ID=COSV60430961;OCCURENCE=2(large_intestine),1(endometrium) ZNRF3 124 0 205 16 0.0723981900452489 TRUE TRUE ENSG00000101825.8 . BCM GRCh38.p13 chrX 3322195 3322195 + G G A Missense_Mutation SNP ENST00000217939.7 exon5 c.C3490T p.H1164Y exonic ENSG00000101825.8 . nonsynonymous SNV ENSG00000101825.8:ENST00000217939.7:exon5:c.C3490T:p.H1164Y Xp22.33 C3L-04848 . . . . . . . . . 2.19 D T D B U N N T N 0.181 T T T 0.092 0.260 0.235 0.155 T T T T T T 1.216 13.760 0.984 N . . . . . 0.015 . . . . . 3.610 2.720 2.035 0.056 0.674 0.246 0.009 0.588 1000 . . . ID=COSV54246826;OCCURENCE=1(skin) MXRA5 66 0 58 4 0.0645161290322581 TRUE NA ENSG00000169891.18 . BCM GRCh38.p13 chrX 16946911 16946911 + C C T Missense_Mutation SNP ENST00000357277.8 exon1 c.C50T p.A17V exonic ENSG00000169891.18 . nonsynonymous SNV ENSG00000169891.18:ENST00000357277.8:exon1:c.C50T:p.A17V Xp22.2 C3L-04848 . . . . . . . . . 3.19 D T B B U N L T N 0.277 T T D 0.020 0.262 0.213 0.379 D T T T T T 1.765 17.480 0.993 N . . . . . 1.000 . . . . . 3.260 2.390 2.232 0.547 0.368 0.993 0.911 0.327 300 . . . . REPS2 11 0 20 4 0.166666666666667 NA TRUE ENSG00000175809.6 . BCM GRCh38.p13 chrX 22274099 22274099 + G G A Missense_Mutation SNP ENST00000323684.4 exon1 c.G1108A p.E370K exonic ENSG00000175809.6 . nonsynonymous SNV ENSG00000175809.6:ENST00000323684.4:exon1:c.G1108A:p.E370K Xp22.11 C3L-04848 . . . . . . . . rs868368528 5.18 D T D P U N . T N 0.201 T T T 0.141 0.526 0.030 0.445 T T T T D D 2.095 19.980 0.974 D . . . . . 0.009 . . . . . 2.900 2.030 2.881 0.190 -0.106 1.000 0.006 0.019 789 . . . ID=COSV60370252;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(pancreas),1(skin) CBLL2 242 0 304 29 0.0870870870870871 TRUE TRUE ENSG00000232030.3 . BCM GRCh38.p13 chrX 26161271 26161271 + G G A Missense_Mutation SNP ENST00000416929.2 exon1 c.G671A p.R224H exonic ENSG00000232030.3 . nonsynonymous SNV ENSG00000232030.3:ENST00000416929.2:exon1:c.G671A:p.R224H Xp21.3 C3L-04848 . . . . . . . . . 0.3 . T . . . . . . . 0.110 . . . . . . . . . . . . T 0.338 4.723 0.493 N . . . . . 0.000 . . . . 0.043 2.470 -3.170 0.482 -0.623 -0.154 0.000 0.000 0.002 611 MAGE_homology_domain . . . MAGEB6B 249 0 290 17 0.0553745928338762 TRUE TRUE ENSG00000183337.17 . BCM GRCh38.p13 chrX 40052112 40052112 + C C T Nonsense_Mutation SNP ENST00000378444.9 exon15 c.G5265A p.W1755X exonic ENSG00000183337.17 . stopgain ENSG00000183337.17:ENST00000378444.9:exon15:c.G5265A:p.W1755X Xp11.4 C3L-04848 . . . . . . . . . 4.4 . . . . . D . . . 0.582 . . . . . . . . . D D . . 8.279 42 0.984 D . . . . . 1.000 . . . . . 5.830 5.830 1.899 1.026 0.599 1.000 0.293 0.469 912 . . . . BCOR 93 0 96 7 0.0679611650485437 TRUE TRUE ENSG00000102385.12 . BCM GRCh38.p13 chrX 101241722 101241722 + C C T Missense_Mutation SNP ENST00000395209.7 exon7 c.C614T p.A205V exonic ENSG00000102385.12 . nonsynonymous SNV ENSG00000102385.12:ENST00000395209.7:exon7:c.C614T:p.A205V Xq22.1 C3L-04848 1.144e-05 0 0 0 0 2.092e-05 0 0 rs755031248 5.19 T T P B D D L T N 0.838 T T D 0.184 0.322 0.268 0.939 T T T T T D 1.892 18.430 0.999 D . . . . . 1.000 . . . . . 5.490 5.490 7.527 1.026 0.599 1.000 0.984 0.870 124 . . . ID=COSV65811879;OCCURENCE=1(large_intestine) DRP2 212 0 332 22 0.0621468926553672 TRUE TRUE ENSG00000198354.7 . BCM GRCh38.p13 chrX 126165330 126165330 + C C T Missense_Mutation SNP ENST00000360028.4 exon1 c.G595A p.A199T exonic ENSG00000198354.7 . nonsynonymous SNV ENSG00000198354.7:ENST00000360028.4:exon1:c.G595A:p.A199T Xq25 C3L-04848 . . . . . . . . . 1.19 T T B B N N L T N 0.138 T T T 0.044 . 0.348 . T T T T T T 0.485 6.350 0.969 D . . . . . 0.001 . . . . . 3.870 -0.260 1.065 -0.066 0.463 0.806 0.001 0.193 937 WD40-repeat-containing_domain . . ID=COSV63580237;OCCURENCE=2(liver),1(stomach),1(kidney),1(skin),1(lung),1(upper_aerodigestive_tract) DCAF12L2 443 0 715 40 0.0529801324503311 NA TRUE ENSG00000147255.19 . BCM GRCh38.p13 chrX 131286605 131286605 + G G A Missense_Mutation SNP ENST00000361420.8 exon2 c.C70T p.R24W exonic ENSG00000147255.19 . nonsynonymous SNV ENSG00000147255.19:ENST00000361420.8:exon2:c.C70T:p.R24W Xq26.1 C3L-04848 2.284e-05 0.0001 0 0 0 2.085e-05 0 0 rs767093474 2.18 T T B B . D N T N 0.183 T T D 0.050 . 0.043 0.193 T T T T T T 0.326 4.585 0.743 N . . . . . 1.000 . . . . . 4.240 -4.580 -1.217 -1.087 -0.817 0.013 0.926 0.871 73 . . . ID=COSV63836910;OCCURENCE=1(large_intestine),1(NS),1(kidney),1(skin) IGSF1 70 0 104 11 0.0956521739130435 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7670717 7670717 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon10:c.994-2A>G . . 17p13.1 C3L-04848 . . . . . . . . rs867389695 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.684 34 0.992 D . 0.928 11.804 0.723 8.214 0.996 0.295 0.272 0.343 0.221 0.943 5.130 5.130 6.967 1.136 0.665 1.000 0.831 0.519 450 . . . ID=COSV52692098;OCCURENCE=5(breast),1(liver),1(large_intestine),1(central_nervous_system),2(ovary),3(haematopoietic_and_lymphoid_tissue),3(prostate),5(lung),1(thyroid),1(upper_aerodigestive_tract) TP53 273 0 351 60 0.145985401459854 TRUE TRUE ENSG00000081923.15 . BCM GRCh38.p13 chr18 57652483 57652483 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000081923.15 ENST00000648908.2:exon25:c.3261+1G>A . . 18q21.31 C3L-04848 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.322 33 0.995 D . 1.162 20.769 1.014 19.724 1.000 0.070 0.097 0.084 0.090 0.990 5.860 5.860 7.876 1.026 0.599 1.000 0.966 0.790 982 . . . . ATP8B1 205 0 310 22 0.0662650602409639 TRUE TRUE ENSG00000138061.12 . BCM GRCh38.p13 chr2 38075035 38075035 + C C T Silent SNP ENST00000610745.5 exon2 c.G354A p.P118P exonic ENSG00000138061.12 . synonymous SNV ENSG00000138061.12:ENST00000610745.5:exon2:c.G354A:p.P118P 2p22.2 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53192711;OCCURENCE=1(ovary) CYP1B1 448 0 597 99 0.142241379310345 TRUE TRUE ENSG00000068781.21 . BCM GRCh38.p13 chr2 48646469 48646469 + C C T Silent SNP ENST00000403751.8 exon6 c.C405T p.V135V exonic ENSG00000068781.21;ENSG00000242441.8 . synonymous SNV ENSG00000242441.8:ENST00000403751.8:exon6:c.C405T:p.V135V,ENSG00000068781.21:ENST00000394754.5:exon8:c.C2517T:p.V839V 2p16.3 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STON1-GTF2A1L 60 0 78 8 0.0930232558139535 TRUE TRUE ENSG00000121988.18 . BCM GRCh38.p13 chr2 135207530 135207530 + G G A Silent SNP ENST00000264159.11 exon19 c.C2913T p.N971N exonic ENSG00000121988.18 . synonymous SNV ENSG00000121988.18:ENST00000264159.11:exon19:c.C2913T:p.N971N 2q21.3 C3L-04848 0.0007 0 0 0.0089 0 5.995e-05 0 6.057e-05 rs199874816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZRANB3 153 0 235 18 0.0711462450592885 TRUE NA ENSG00000187091.13 . BCM GRCh38.p13 chr3 38009785 38009785 + C C T Silent SNP ENST00000334661.4 exon9 c.G1314A p.K438K exonic ENSG00000187091.13 . synonymous SNV ENSG00000187091.13:ENST00000334661.4:exon9:c.G1314A:p.K438K 3p22.2 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCD1 332 0 550 50 0.0833333333333333 TRUE TRUE ENSG00000121552.4 . BCM GRCh38.p13 chr3 122337567 122337567 + A A G Silent SNP ENST00000264474.4 exon2 c.A87G p.E29E exonic ENSG00000121552.4 . synonymous SNV ENSG00000121552.4:ENST00000264474.4:exon2:c.A87G:p.E29E 3q21.1 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSTA 135 0 221 27 0.108870967741935 TRUE TRUE ENSG00000039139.9 . BCM GRCh38.p13 chr5 13810183 13810183 + C C T Silent SNP ENST00000265104.4 exon45 c.G7485A p.A2495A exonic ENSG00000039139.9 . synonymous SNV ENSG00000039139.9:ENST00000265104.4:exon45:c.G7485A:p.A2495A 5p15.2 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54231710;OCCURENCE=1(central_nervous_system) DNAH5 201 0 429 58 0.119096509240246 TRUE TRUE ENSG00000177409.12 . BCM GRCh38.p13 chr7 93135711 93135711 + C C T Silent SNP ENST00000318238.9 exon5 c.G261A p.P87P exonic ENSG00000177409.12 . synonymous SNV ENSG00000177409.12:ENST00000318238.9:exon5:c.G261A:p.P87P 7q21.2 C3L-04848 2.472e-05 0 0 0 0.0003 1.499e-05 0 0 rs767681806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD9L 256 0 351 51 0.126865671641791 TRUE NA ENSG00000164889.14 . BCM GRCh38.p13 chr7 151071418 151071418 + G G A Silent SNP ENST00000413384.7 exon14 c.G2004A p.G668G exonic ENSG00000164889.14 . synonymous SNV ENSG00000164889.14:ENST00000413384.7:exon14:c.G2004A:p.G668G 7q36.1 C3L-04848 . . . . . . . . rs527345139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC4A2 128 0 226 73 0.244147157190635 TRUE NA ENSG00000189376.12 . BCM GRCh38.p13 chr8 123241299 123241299 + C C T Silent SNP ENST00000276704.6 exon1 c.G48A p.V16V exonic ENSG00000189376.12 . synonymous SNV ENSG00000189376.12:ENST00000276704.6:exon1:c.G48A:p.V16V 8q24.13 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C8orf76 178 0 334 26 0.0722222222222222 TRUE TRUE ENSG00000169727.12 . BCM GRCh38.p13 chr17 82056487 82056487 + C C T Silent SNP ENST00000306823.10 exon10 c.C1065T p.D355D exonic ENSG00000169727.12 . synonymous SNV ENSG00000169727.12:ENST00000306823.10:exon10:c.C1065T:p.D355D 17q25.3 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPS1 201 0 369 35 0.0866336633663366 TRUE TRUE ENSG00000126091.21 . BCM GRCh38.p13 chr1 43930103 43930103 + C C T Intron SNP NA NA NA NA intronic ENSG00000126091.21;ENSG00000284989.1 . . . 1p34.1 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ST3GAL3 504 0 693 92 0.117197452229299 TRUE NA ENSG00000163964.16 . BCM GRCh38.p13 chr3 196721182 196721182 + C C T Intron SNP NA NA NA NA intronic ENSG00000163964.16 . . . 3q29 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIGX 56 0 98 6 0.0576923076923077 TRUE NA ENSG00000164877.19 . BCM GRCh38.p13 chr7 1434376 1434376 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000164877.19 ENST00000297508.8:c.*220C>T . . 7p22.3 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MICALL2 130 0 196 29 0.128888888888889 TRUE NA ENSG00000019485.13 . BCM GRCh38.p13 chr11 45212897 45212897 + C C A Intron SNP NA NA NA NA intronic ENSG00000019485.13 . . . 11p11.2 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM11 38 1 63 4 0.0597014925373134 TRUE NA ENSG00000196547.15 . BCM GRCh38.p13 chr15 90911372 90911372 + C C T Intron SNP NA NA NA NA intronic ENSG00000196547.15 . . . 15q26.1 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAN2A2 141 0 209 12 0.0542986425339367 TRUE NA ENSG00000132507.18 . BCM GRCh38.p13 chr17 7310168 7310168 + G G A Intron SNP NA NA NA NA intronic ENSG00000132507.18 . . . 17p13.1 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIF5A 379 0 471 71 0.1309963099631 TRUE NA ENSG00000121073.15 . BCM GRCh38.p13 chr17 49704086 49704086 + G G C Intron SNP NA NA NA NA intronic ENSG00000121073.15 . . . 17q21.33 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC35B1 119 0 183 27 0.128571428571429 TRUE NA ENSG00000089063.15 . BCM GRCh38.p13 chr20 5111525 5111525 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000089063.15 ENST00000379286.6:c.-2095G>A . . 20p12.3 C3L-04848 . . . . . . . . . 1.17 D T P B . N . T N 0.116 T T T 0.019 0.367 0.030 0.667 T . T T T T 0.180 2.900 0.898 N N -0.789 0.671 -0.983 0.511 0.999 0.476 0.602 0.537 0.492 . 0.536 0.536 0.500 0.412 0.389 0.003 0.005 0.009 957 . . . . TMEM230 40 0 69 4 0.0547945205479452 TRUE NA ENSG00000068781.21 . BCM GRCh38.p13 chr2 48646517 48646518 + TC TC AT Unknown MNP ENST00000403751.8 exon6 c.453_454delinsAT p.Q152_W478del exonic ENSG00000068781.21;ENSG00000242441.8 . stopgain ENSG00000242441.8:ENST00000403751.8:exon6:c.453_454delinsAT:p.Q152_W478del,ENSG00000068781.21:ENST00000394754.5:exon8:c.2565_2566delinsAT:p.Q856_W1182del 2p16.3 C3L-04848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STON1-GTF2A1L 115 0 173 23 0.11734693877551 TRUE NA ENSG00000070886.12 . BCM GRCh38.p13 chr1 22601428 22601428 + C C T Missense_Mutation SNP ENST00000166244.8 exon16 c.C2858T p.A953V exonic ENSG00000070886.12 . nonsynonymous SNV ENSG00000070886.12:ENST00000166244.8:exon16:c.C2858T:p.A953V 1p36.12 C3N-00514 . . . . . . . . rs369076646 8.20 D T D B D D M T N 0.590 T T T 0.116 . 0.593 0.525 T T T T D D 3.014 23.400 0.999 D N 0.263 3.596 0.249 3.433 0.900 0.581 0.574 0.576 0.542 . 5.230 5.230 1.172 1.012 0.545 0.442 0.897 0.694 888 Sterile_alpha_motif_domain . . ID=COSV99385518;OCCURENCE=1(stomach) EPHA8 463 0 1086 67 0.0581092801387684 TRUE NA ENSG00000162618.15 . BCM GRCh38.p13 chr1 78937815 78937815 + G G A Missense_Mutation SNP ENST00000370742.4 exon6 c.C752T p.T251M exonic ENSG00000162618.15 . nonsynonymous SNV ENSG00000162618.15:ENST00000370742.4:exon6:c.C752T:p.T251M 1p31.1 C3N-00514 6.685e-05 0 0 0 0 7.538e-05 0 0.0002 rs369699141 6.19 D D D P N D . T N 0.284 T T T 0.100 . 0.368 0.223 T T T T T D 3.095 23.600 0.998 D N 0.009 2.543 0.015 2.410 0.007 0.707 0.574 0.574 0.714 . 5.790 3.900 1.974 -0.367 -0.227 1.000 0.706 0.822 775 GAIN_domain,_N-terminal . . ID=COSV66059098;OCCURENCE=1(large_intestine),1(stomach) ADGRL4 70 0 137 14 0.0927152317880795 TRUE TRUE ENSG00000119866.22 . BCM GRCh38.p13 chr2 60461723 60461723 + G G A Missense_Mutation SNP ENST00000642384.2 exon4 c.C1189T p.R397C exonic ENSG00000119866.22 . nonsynonymous SNV ENSG00000119866.22:ENST00000642384.2:exon4:c.C1189T:p.R397C 2p16.1 C3N-00514 . . . . . . . . . 17.20 D D D D D D M T D 0.875 T T D 0.440 0.762 0.728 . D D D D D D 4.289 29.500 0.990 D D 0.708 7.234 0.648 6.875 1.000 0.696 0.654 0.723 0.621 . 5.740 4.840 3.898 1.176 0.676 1.000 1.000 1.000 855 Zinc_finger_C2H2-type . . ID=COSV59624433;OCCURENCE=1(large_intestine),1(stomach) BCL11A 443 0 1028 79 0.0713640469738031 TRUE TRUE ENSG00000066032.18 . BCM GRCh38.p13 chr2 79909756 79909756 + C C T Missense_Mutation SNP ENST00000402739.8 exon6 c.C1015T p.R339W exonic ENSG00000066032.18 . nonsynonymous SNV ENSG00000066032.18:ENST00000402739.8:exon6:c.C1015T:p.R339W 2p12 C3N-00514 . . . . . . . . . 17.20 D D D D D D M T D 0.876 T T D 0.468 0.669 0.797 1.666 D D D D D D 3.794 25.800 0.999 D D 0.645 6.417 0.567 5.829 0.996 0.615 0.574 0.659 0.564 . 5.600 4.700 2.055 1.026 0.549 0.968 0.987 0.999 981 . . . ID=COSV63587511;OCCURENCE=1(kidney) CTNNA2 161 0 512 33 0.0605504587155963 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178571122 178571122 + G G A Missense_Mutation SNP ENST00000591111.5 exon276 c.C70087T p.R23363C exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon276:c.C70087T:p.R23363C 2q31.2 C3N-00514 . . . . . . . . . 9.17 D . D P . D M T D 0.541 T T T 0.218 0.430 0.301 0.304 T . T T D D 3.598 25.000 0.867 D D 0.620 6.138 0.622 6.507 0.889 0.487 0.546 0.545 0.564 . 5.280 5.280 3.305 1.176 0.676 1.000 0.989 0.998 429 Fibronectin_type_III . . ID=COSV59934151;OCCURENCE=1(NS),1(endometrium) TTN 144 0 295 22 0.0694006309148265 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178729566 178729566 + T T C Missense_Mutation SNP ENST00000591111.5 exon62 c.A17639G p.E5880G exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon62:c.A17639G:p.E5880G 2q31.2 C3N-00514 . . . . . . . . . 8.16 D . D D . D . T D 0.441 T T D 0.375 0.398 0.666 0.498 T . T T T T 3.753 25.600 0.946 D D 0.762 8.083 0.767 9.225 1.000 0.554 0.588 0.547 0.564 . 6.060 6.060 6.198 1.138 0.665 1.000 0.990 0.993 343 . . . . TTN 78 0 287 21 0.0681818181818182 TRUE TRUE ENSG00000068024.16 . BCM GRCh38.p13 chr2 239236649 239236649 + C C T Missense_Mutation SNP ENST00000345617.7 exon3 c.G38A p.R13Q exonic ENSG00000068024.16 . nonsynonymous SNV ENSG00000068024.16:ENST00000345617.7:exon3:c.G38A:p.R13Q 2q37.3 C3N-00514 0.0001 0.0007 0 0 0 0.0001 0 0 rs61754650 6.20 D T B B N D L T D 0.429 T T D 0.111 . 0.678 0.520 T T T T T D 3.330 24.200 0.991 D N 0.272 3.636 0.341 3.968 1.000 0.615 0.588 0.659 0.568 . 4.680 4.680 4.195 1.026 0.599 1.000 1.000 1.000 922 . . . . HDAC4 396 0 787 57 0.0675355450236967 TRUE NA ENSG00000181555.20 . BCM GRCh38.p13 chr3 47122885 47122885 + T T C Missense_Mutation SNP ENST00000409792.3 exon3 c.A1751G p.Q584R exonic ENSG00000181555.20 . nonsynonymous SNV ENSG00000181555.20:ENST00000409792.3:exon3:c.A1751G:p.Q584R 3p21.31 C3N-00514 . . . . . . . . . 6.20 D D B B N N L D D 0.093 T T T 0.134 0.035 0.751 0.289 T T T T D T 2.482 22.400 0.985 D N -0.292 1.633 -0.118 1.997 1.000 0.563 0.654 0.670 0.636 . 5.250 4.080 3.014 0.170 0.665 1.000 0.999 0.999 13 . . . . SETD2 69 0 147 11 0.069620253164557 TRUE TRUE ENSG00000164077.14 . BCM GRCh38.p13 chr3 49910837 49910837 + C C T Missense_Mutation SNP ENST00000296473.7 exon4 c.G952A p.A318T exonic ENSG00000164077.14 . nonsynonymous SNV ENSG00000164077.14:ENST00000296473.7:exon4:c.G952A:p.A318T 3p21.31 C3N-00514 . . . . . . . . . 12.17 D D . . D D M . D 0.713 T T D 0.241 0.686 0.430 1.100 T T D T D D 3.588 25.000 0.999 D D 0.540 5.366 0.521 5.358 1.000 0.726 0.616 0.594 0.636 . 5.620 5.620 3.211 1.026 0.599 1.000 0.989 0.959 1 . . . ID=COSV56560120;OCCURENCE=1(NS) MON1A 94 1 246 17 0.064638783269962 TRUE TRUE ENSG00000114054.14 . BCM GRCh38.p13 chr3 136250400 136250400 + G G A Missense_Mutation SNP ENST00000251654.9 exon1 c.G25A p.A9T exonic ENSG00000114054.14 . nonsynonymous SNV ENSG00000114054.14:ENST00000251654.9:exon1:c.G25A:p.A9T 3q22.3 C3N-00514 . . . . . . . . . 5.20 T T B B N N N D N 0.292 T D D 0.401 0.374 0.846 0.097 T T D T T T 1.692 16.970 0.950 D N -0.951 0.458 -0.870 0.661 1.000 0.442 0.522 0.504 0.373 . 4.980 3.190 2.567 1.176 0.676 0.054 0.005 0.097 346 Acetyl-coenzyme_A_carboxyltransferase,_N-terminal . . . PCCB 48 0 83 8 0.0879120879120879 TRUE TRUE ENSG00000173040.13 . BCM GRCh38.p13 chr4 5689333 5689333 + G G A Missense_Mutation SNP ENST00000344408.10 exon5 c.C530T p.S177L exonic ENSG00000173040.13 . nonsynonymous SNV ENSG00000173040.13:ENST00000344408.10:exon5:c.C530T:p.S177L 4p16.2 C3N-00514 2.475e-05 0.0002 0 0 0 1.501e-05 0 0 rs145758016 1.20 T D B B N N N T N 0.190 T T T 0.163 . 0.673 0.020 T T T T T T 1.945 18.840 0.966 N N -0.891 0.531 -0.795 0.765 0.004 0.615 0.588 0.659 0.636 . 4.540 2.040 1.843 0.179 -0.140 0.991 0.005 0.001 982 . . . ID=COSV60388597;OCCURENCE=1(NS),1(skin),1(lung) EVC2 289 0 699 40 0.054127198917456 TRUE TRUE ENSG00000249693.3 . BCM GRCh38.p13 chr4 56531145 56531145 + C C T Missense_Mutation SNP ENST00000512175.3 exon1 c.C469T p.R157W exonic ENSG00000249693.3 . nonsynonymous SNV ENSG00000249693.3:ENST00000512175.3:exon1:c.C469T:p.R157W 4q12 C3N-00514 . . . . . . . . . 4.12 D D . . . . N . D 0.153 . . D . . 0.444 . T T T T . T 1.084 12.620 0.999 N N . . . . 1.000 0.598 0.596 0.608 0.555 . 3.850 1.930 -1.612 0.068 -0.444 0.000 0.007 0.301 704 . . . ID=COSV72866708;OCCURENCE=1(liver) THEGL 80 1 144 13 0.0828025477707006 TRUE TRUE ENSG00000170153.11 . BCM GRCh38.p13 chr4 141132550 141132550 + G G T Missense_Mutation SNP ENST00000515673.7 exon1 c.C259A p.R87S exonic ENSG00000170153.11 . nonsynonymous SNV ENSG00000170153.11:ENST00000515673.7:exon1:c.C259A:p.R87S 4q31.21 C3N-00514 . . . . . . . . . 6.20 T T B B D D L T D 0.520 T T D 0.120 0.468 0.365 0.708 T T T T D T 2.992 23.400 0.987 D N -0.309 1.592 -0.158 1.889 1.000 0.437 0.563 0.504 0.604 . 3.930 3.930 2.037 1.175 0.674 1.000 1.000 0.994 902 . . . . RNF150 256 0 642 47 0.0682148040638607 TRUE TRUE ENSG00000056097.16 . BCM GRCh38.p13 chr5 32355769 32355771 + ATC ATC - In_Frame_Del DEL ENST00000265069.13 exon20 c.3214_3216del p.D1072del exonic ENSG00000056097.16 . nonframeshift deletion ENSG00000056097.16:ENST00000265069.13:exon20:c.3214_3216del:p.D1072del 5p13.3 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFR 84 0 172 12 0.0652173913043478 NA TRUE ENSG00000164904.18 . BCM GRCh38.p13 chr5 126577176 126577176 + C C T Missense_Mutation SNP ENST00000409134.8 exon6 c.G553A p.V185I exonic ENSG00000164904.18 . nonsynonymous SNV ENSG00000164904.18:ENST00000409134.8:exon6:c.G553A:p.V185I 5q23.2 C3N-00514 9.912e-05 0 0.0002 0 0 0.0001 0 6.087e-05 rs61757685 5.20 D T B B N D N D N 0.275 T T D 0.143 . 0.826 0.122 T T T T T T 0.823 9.628 0.965 D N -0.691 0.827 -0.606 1.037 0.009 0.707 0.588 0.702 0.714 . 5.200 0.620 2.045 -0.892 -0.173 0.928 0.558 0.165 645 Aldehyde_dehydrogenase_domain . . . ALDH7A1 495 0 968 81 0.0772163965681602 TRUE NA ENSG00000204965.9 . BCM GRCh38.p13 chr5 140823378 140823378 + A A T Missense_Mutation SNP ENST00000529859.2 exon1 c.A1603T p.S535C exonic ENSG00000204965.9 . nonsynonymous SNV ENSG00000204965.9:ENST00000529859.2:exon1:c.A1603T:p.S535C 5q31.3 C3N-00514 . . . . . . . . . 10.18 D D D D . D L T D 0.397 T T D 0.197 0.426 0.810 0.998 . T T T D D 3.662 25.300 0.985 D N 0.186 3.240 0.067 2.602 0.000 0.554 0.588 0.576 0.542 . 3.860 3.860 0.779 1.280 0.686 0.127 1.000 0.900 28 Cadherin-like . . . PCDHA5 939 0 2001 149 0.0693023255813953 NA TRUE ENSG00000155511.18 . BCM GRCh38.p13 chr5 153811145 153811145 + C C T Missense_Mutation SNP ENST00000285900.10 exon16 c.C2641T p.H881Y exonic ENSG00000155511.18 . nonsynonymous SNV ENSG00000155511.18:ENST00000285900.10:exon16:c.C2641T:p.H881Y 5q33.2 C3N-00514 . . . . . . . . . 6.20 D T P B D D L T N 0.562 T T T 0.161 0.242 0.421 1.663 T T T T D T 2.464 22.300 0.994 D D 0.355 4.078 0.449 4.723 1.000 0.554 0.574 0.618 0.564 . 5.030 5.030 7.388 1.024 0.599 1.000 0.996 0.995 792 . . . . GRIA1 416 0 934 68 0.0678642714570858 TRUE TRUE ENSG00000221900.6 . BCM GRCh38.p13 chr7 53036146 53036146 + C C T Missense_Mutation SNP ENST00000408890.6 exon1 c.C475T p.R159C exonic ENSG00000221900.6 . nonsynonymous SNV ENSG00000221900.6:ENST00000408890.6:exon1:c.C475T:p.R159C 7p12.1 C3N-00514 8.927e-06 0 0 0 0 0 0 6.101e-05 rs746175412 1.19 T T D P . N N T N 0.083 T T T 0.061 0.239 0.132 0.413 T T T T T T 1.698 17.020 0.920 N N -0.692 0.826 -0.873 0.657 0.000 0.487 0.574 0.547 0.564 . 1.810 0.851 0.327 0.674 0.505 0.000 0.003 0.001 980 . . . ID=COSV68692799;OCCURENCE=1(central_nervous_system),2(lung) POM121L12 219 0 523 41 0.0726950354609929 TRUE TRUE ENSG00000185900.10 . BCM GRCh38.p13 chr8 43103612 43103612 + G G T Missense_Mutation SNP ENST00000331373.10 exon4 c.G64T p.G22W exonic ENSG00000185900.10 . nonsynonymous SNV ENSG00000185900.10:ENST00000331373.10:exon4:c.G64T:p.G22W 8p11.21 C3N-00514 . . . . . . . . . 3.20 D D P B N N L T N 0.579 T T D 0.298 0.723 0.722 0.344 T T T T T T 1.131 13.060 0.977 N N -0.583 1.018 -0.702 0.897 1.000 0.707 0.725 0.725 0.636 . 5.160 1.840 -0.194 0.190 -0.276 0.005 0.305 0.132 451 . . . ID=COSV100505838;OCCURENCE=1(skin) POMK 402 0 747 64 0.0789149198520345 TRUE TRUE ENSG00000182022.18 . BCM GRCh38.p13 chr10 124046076 124046076 + C C T Missense_Mutation SNP ENST00000435907.6 exon2 c.G137A p.R46H exonic ENSG00000182022.18 . nonsynonymous SNV ENSG00000182022.18:ENST00000435907.6:exon2:c.G137A:p.R46H 10q26.13 C3N-00514 0.0001 0.0003 8.637e-05 0 0.0005 7.493e-05 0 0.0001 rs201960331 1.19 T T B B N D N . N 0.123 T T T 0.010 . 0.150 0.354 T T T T T T 1.118 12.940 0.990 N N -0.812 0.637 -0.676 0.935 1.000 0.765 0.628 0.659 0.528 . 5.670 2.700 0.727 0.114 -0.313 0.386 0.997 0.985 845 . . . ID=COSV60561060;OCCURENCE=1(oesophagus),1(stomach),1(pancreas) CHST15 310 0 609 37 0.0572755417956656 TRUE TRUE ENSG00000174672.16 . BCM GRCh38.p13 chr11 1450644 1450644 + G G C Missense_Mutation SNP ENST00000528841.6 exon14 c.G1345C p.V449L exonic ENSG00000174672.16 . nonsynonymous SNV ENSG00000174672.16:ENST00000528841.6:exon14:c.G1345C:p.V449L 11p15.5 C3N-00514 . . . . . . . . . 5.20 T T P B U D L T N 0.534 T T D 0.070 0.228 0.438 0.541 D T T T D D 2.675 22.800 0.951 N N -0.365 1.462 -0.150 1.910 0.291 0.696 0.588 0.723 0.563 . 4.440 3.450 6.423 1.117 0.608 1.000 0.925 0.829 976 . . . . BRSK2 93 0 172 28 0.14 TRUE TRUE ENSG00000068976.14 . BCM GRCh38.p13 chr11 64753902 64753902 + C C T Missense_Mutation SNP ENST00000164139.4 exon10 c.G1216A p.E406K exonic ENSG00000068976.14 . nonsynonymous SNV ENSG00000068976.14:ENST00000164139.4:exon10:c.G1216A:p.E406K 11q13.1 C3N-00514 3.188e-05 0 0 0 0 6.567e-05 0 0 rs781394907 14.20 D T B B D D L D N 0.869 D D D 0.721 0.713 0.930 0.659 T D D D D D 2.766 23.000 0.999 D D 0.204 3.321 0.346 3.996 1.000 0.696 0.588 0.723 0.613 . 4.950 4.950 7.905 1.026 0.599 1.000 0.987 0.986 384 . . . ID=COSV51217665;OCCURENCE=2(liver) PYGM 431 0 1002 55 0.0520340586565752 TRUE TRUE ENSG00000154134.15 . BCM GRCh38.p13 chr11 124870261 124870261 + G G A Missense_Mutation SNP ENST00000397801.6 exon5 c.G863A p.R288H exonic ENSG00000154134.15 . nonsynonymous SNV ENSG00000154134.15:ENST00000397801.6:exon5:c.G863A:p.R288H 11q24.2 C3N-00514 1.673e-05 0.0002 0 0 0 0 0 0 rs746486301 0.20 T T B B N N N T N 0.079 T T T 0.059 . 0.342 0.108 T T T T T T 0.288 4.154 0.956 N N -1.149 0.265 -1.168 0.311 0.001 0.598 0.563 0.596 0.639 . 4.920 -1.360 0.076 -0.105 -0.109 0.000 0.015 0.551 712 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . ROBO3 206 0 519 34 0.0614828209764919 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-00514 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 348 0 657 103 0.135526315789474 TRUE TRUE ENSG00000090382.7 . BCM GRCh38.p13 chr12 69353181 69353182 + AG AG - Frame_Shift_Del DEL ENST00000261267.7 exon4 c.409_410del p.D138Cfs*33 exonic ENSG00000090382.7 . frameshift deletion ENSG00000090382.7:ENST00000261267.7:exon4:c.409_410del:p.D138Cfs*33 12q15 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LYZ 401 0 704 58 0.0761154855643045 TRUE TRUE ENSG00000196458.11 . BCM GRCh38.p13 chr12 132927052 132927052 + T T C Missense_Mutation SNP ENST00000360187.9 exon5 c.A247G p.I83V exonic ENSG00000196458.11 . nonsynonymous SNV ENSG00000196458.11:ENST00000360187.9:exon5:c.A247G:p.I83V 12q24.33 C3N-00514 . . . . . . . . . 0.20 T T B B N N N T N 0.067 T T T 0.013 0.306 0.364 . T T T T T T 0.273 3.976 0.879 N N -1.087 0.318 -1.028 0.454 0.008 0.651 0.588 0.618 0.684 . 3.780 1.450 0.135 0.207 -0.163 0.000 0.681 0.596 958 . . . . ZNF605 119 0 243 21 0.0795454545454545 TRUE NA ENSG00000007545.16 . BCM GRCh38.p13 chr16 1626093 1626093 + G G A Missense_Mutation SNP ENST00000397412.8 exon3 c.G467A p.G156D exonic ENSG00000007545.16 . nonsynonymous SNV ENSG00000007545.16:ENST00000397412.8:exon3:c.G467A:p.G156D 16p13.3 C3N-00514 . . . . . . . . . 11.20 D D D D D D M T N 0.424 T T T 0.224 0.216 0.134 2.392 T T T T D D 4.195 28.600 0.998 D D 0.756 7.982 0.802 10.196 0.998 0.707 0.654 0.725 0.636 . 5.810 5.810 9.674 1.176 0.676 1.000 0.998 0.998 553 . . . . CRAMP1 133 0 260 17 0.0613718411552347 TRUE TRUE ENSG00000187555.16 . BCM GRCh38.p13 chr16 8921242 8921242 + T T C Missense_Mutation SNP ENST00000344836.9 exon4 c.A437G p.D146G exonic ENSG00000187555.16 . nonsynonymous SNV ENSG00000187555.16:ENST00000344836.9:exon4:c.A437G:p.D146G 16p13.2 C3N-00514 . . . . . . . . . 6.20 T T B B D D N T N 0.492 T T T 0.213 0.568 0.763 1.880 T T T T D D 2.272 21.400 0.991 D D -0.262 1.710 0.031 2.468 1.000 0.722 0.699 0.725 0.711 . 5.900 5.900 7.824 1.138 0.665 1.000 0.999 0.997 851 MATH/TRAF_domain . . . USP7 126 0 275 16 0.0549828178694158 TRUE TRUE ENSG00000140853.15 . BCM GRCh38.p13 chr16 57026438 57026438 + G G A Missense_Mutation SNP ENST00000262510.10 exon6 c.G1495A p.V499I exonic ENSG00000140853.15 . nonsynonymous SNV ENSG00000140853.15:ENST00000262510.10:exon6:c.G1495A:p.V499I 16q13 C3N-00514 0.0002 0.0003 0.0002 0.0001 0 0.0002 0 0.0002 rs61744164 2.20 T T B B N N N D N 0.037 T T D 0.147 . 0.218 0.204 T T T T T T -1.253 0.002 0.415 N N -1.975 0.010 -1.984 0.015 1.000 0.672 0.702 0.602 0.592 . 5.400 -5.690 -0.075 -2.201 -1.554 0.001 0.000 0.001 917 . . . ID=COSV52658084;OCCURENCE=1(large_intestine) NLRC5 400 0 876 70 0.0739957716701903 TRUE TRUE ENSG00000108576.10 . BCM GRCh38.p13 chr17 30210595 30210595 + C C T Missense_Mutation SNP ENST00000650711.1 exon11 c.G1369A p.V457I exonic ENSG00000108576.10 . nonsynonymous SNV ENSG00000108576.10:ENST00000650711.1:exon11:c.G1369A:p.V457I 17q11.2 C3N-00514 6.611e-05 0 0 0 0 1.504e-05 0 0.0004 rs190758123 0.20 T T B B N N N T N 0.122 T T T 0.088 . 0.227 0.354 T T T T T T 0.064 1.784 0.840 N N -1.066 0.338 -0.897 0.624 0.036 0.644 0.688 0.574 0.542 . 6.040 2.640 -1.138 0.207 -0.108 0.000 0.976 0.988 615 . . . ID=COSV55565955;OCCURENCE=2(central_nervous_system),2(haematopoietic_and_lymphoid_tissue),1(pancreas),1(skin),1(endometrium) SLC6A4 183 0 366 35 0.0872817955112219 TRUE TRUE ENSG00000064687.13 . BCM GRCh38.p13 chr19 1046252 1046252 + G G A Missense_Mutation SNP ENST00000263094.11 exon13 c.G1468A p.A490T exonic ENSG00000064687.13 . nonsynonymous SNV ENSG00000064687.13:ENST00000263094.11:exon13:c.G1468A:p.A490T 19p13.3 C3N-00514 . . . . . . . . . 15.19 T T D D . D M D D 0.561 D D D 0.594 0.274 0.950 0.491 T T D D D D 3.747 25.600 0.999 D D 0.537 5.338 0.459 4.802 1.000 0.660 0.654 0.696 0.605 . 4.950 4.950 9.782 1.003 0.583 1.000 0.008 0.015 988 . . . ID=COSV54025106;OCCURENCE=1(large_intestine),1(pleura) ABCA7 251 0 485 27 0.052734375 TRUE TRUE ENSG00000185800.12 . BCM GRCh38.p13 chr19 45785921 45785921 + C C T Missense_Mutation SNP ENST00000593999.1 exon1 c.G53A p.R18H exonic ENSG00000185800.12;ENSG00000268434.5 . nonsynonymous SNV ENSG00000268434.5:ENST00000593999.1:exon1:c.G53A:p.R18H 19q13.32 C3N-00514 2.766e-05 0 0 0 0 0 0 0.0002 rs778487763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMWD 165 0 209 20 0.0873362445414847 TRUE NA ENSG00000142515.15 . BCM GRCh38.p13 chr19 50858220 50858220 + C C T Missense_Mutation SNP ENST00000326003.7 exon3 c.C398T p.T133M exonic ENSG00000142515.15 . nonsynonymous SNV ENSG00000142515.15:ENST00000326003.7:exon3:c.C398T:p.T133M 19q13.33 C3N-00514 1.649e-05 0 0 0 0 2.999e-05 0 0 rs373661565 7.18 D D . . N N M T D 0.489 T T T 0.102 . 0.744 0.450 T D T T D D 2.233 21.100 0.997 N N -0.027 2.416 -0.319 1.525 0.021 0.487 0.574 0.492 0.564 . 2.310 2.310 0.492 0.888 0.581 0.001 0.009 0.012 851 Serine_proteases,_trypsin_domain . . ID=COSV58101547;OCCURENCE=3(large_intestine),1(stomach),1(haematopoietic_and_lymphoid_tissue) KLK3 252 1 561 43 0.0711920529801325 TRUE TRUE ENSG00000173638.19 . BCM GRCh38.p13 chr21 45516043 45516043 + G G A Missense_Mutation SNP ENST00000311124.9 exon6 c.C1391T p.P464L exonic ENSG00000173638.19 . nonsynonymous SNV ENSG00000173638.19:ENST00000311124.9:exon6:c.C1391T:p.P464L 21q22.3 C3N-00514 . . . . . . . . rs749244983 2.20 D T P B N D N T N 0.097 T T T 0.066 0.337 0.173 0.118 T T T T T T -0.051 1.046 0.858 N N -1.613 0.052 -1.720 0.047 0.995 0.672 0.702 0.607 0.636 . 4.560 -5.770 -0.029 -3.287 -3.079 0.001 0.000 0.000 580 . . . . SLC19A1 143 1 305 24 0.0729483282674772 TRUE NA ENSG00000068323.17 . BCM GRCh38.p13 chrX 49039331 49039331 + G G A Missense_Mutation SNP ENST00000315869.8 exon3 c.C310T p.P104S exonic ENSG00000068323.17 . nonsynonymous SNV ENSG00000068323.17:ENST00000315869.8:exon3:c.C310T:p.P104S Xp11.23 C3N-00514 . . . . . . . . . 5.19 T T B B N D L T D 0.108 T T T 0.070 0.340 0.200 0.923 T D T T D T 2.137 20.400 0.997 D . . . . . 1.000 . . . . . 5.030 3.930 2.951 1.176 0.676 1.000 1.000 0.999 36 . . . . TFE3 92 0 176 33 0.157894736842105 TRUE TRUE ENSG00000198793.13 . BCM GRCh38.p13 chr1 11259386 11259386 + G G A Silent SNP ENST00000361445.9 exon2 c.C24T p.A8A exonic ENSG00000198793.13 . synonymous SNV ENSG00000198793.13:ENST00000361445.9:exon2:c.C24T:p.A8A 1p36.22 C3N-00514 8.601e-06 0 0 0 0 1.53e-05 0 0 rs779391809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63868114;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(skin) MTOR 125 0 237 21 0.0813953488372093 TRUE TRUE ENSG00000159189.12 . BCM GRCh38.p13 chr1 22647687 22647687 + C C T Silent SNP ENST00000374640.9 exon3 c.C642T p.G214G exonic ENSG00000159189.12 . synonymous SNV ENSG00000159189.12:ENST00000374640.9:exon3:c.C642T:p.G214G 1p36.12 C3N-00514 1.655e-05 0 0 0 0 3.013e-05 0 0 rs778815928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV104687323;OCCURENCE=1(skin) C1QC 187 0 421 41 0.0887445887445888 TRUE NA ENSG00000154358.21 . BCM GRCh38.p13 chr1 228339969 228339969 + C C T Silent SNP ENST00000422127.5 exon70 c.C17283T p.C5761C exonic ENSG00000154358.21 . synonymous SNV ENSG00000154358.21:ENST00000422127.5:exon70:c.C17283T:p.C5761C 1q42.13 C3N-00514 8.302e-06 0 0 0 0.0002 0 0 0 rs752645262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OBSCN 719 1 1408 119 0.0779305828421742 TRUE NA ENSG00000176887.7 . BCM GRCh38.p13 chr2 5693252 5693252 + C C T Silent SNP ENST00000322002.5 exon1 c.C531T p.G177G exonic ENSG00000176887.7 . synonymous SNV ENSG00000176887.7:ENST00000322002.5:exon1:c.C531T:p.G177G 2p25.2 C3N-00514 . . . . . . . . rs373041001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100430678;OCCURENCE=1(stomach) SOX11 33 0 168 21 0.111111111111111 TRUE NA ENSG00000136068.15 . BCM GRCh38.p13 chr3 58145991 58145991 + G G A Silent SNP ENST00000295956.9 exon33 c.G5496A p.V1832V exonic ENSG00000136068.15 . synonymous SNV ENSG00000136068.15:ENST00000295956.9:exon33:c.G5496A:p.V1832V 3p14.3 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLNB 509 0 938 90 0.0875486381322957 TRUE TRUE ENSG00000188848.16 . BCM GRCh38.p13 chr4 42143855 42143855 + G G A Silent SNP ENST00000502486.6 exon3 c.C627T p.N209N exonic ENSG00000188848.16 . synonymous SNV ENSG00000188848.16:ENST00000502486.6:exon3:c.C627T:p.N209N 4p13 C3N-00514 1.882e-05 0.0001 0 0 0 0 0 0.0001 rs574971489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV72468915;OCCURENCE=1(large_intestine),2(upper_aerodigestive_tract),1(endometrium) BEND4 40 0 98 13 0.117117117117117 TRUE TRUE ENSG00000170561.13 . BCM GRCh38.p13 chr5 2749039 2749039 + G G A Silent SNP ENST00000302057.6 exon3 c.C669T p.H223H exonic ENSG00000170561.13 . synonymous SNV ENSG00000170561.13:ENST00000302057.6:exon3:c.C669T:p.H223H 5p15.33 C3N-00514 9.833e-06 0 9.638e-05 0 0 0 0 0 rs753207229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRX2 483 0 902 71 0.0729701952723535 TRUE NA ENSG00000113262.16 . BCM GRCh38.p13 chr5 178994537 178994537 + C C T Silent SNP ENST00000517717.3 exon2 c.G408A p.P136P exonic ENSG00000113262.16 . synonymous SNV ENSG00000113262.16:ENST00000517717.3:exon2:c.G408A:p.P136P 5q35.3 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51445887;OCCURENCE=1(large_intestine) GRM6 87 0 214 21 0.0893617021276596 TRUE TRUE ENSG00000095321.17 . BCM GRCh38.p13 chr9 129104283 129104283 + G G A Silent SNP ENST00000318080.7 exon3 c.C315T p.T105T exonic ENSG00000095321.17 . synonymous SNV ENSG00000095321.17:ENST00000318080.7:exon3:c.C315T:p.T105T 9q34.11 C3N-00514 . . . . . . . . rs959328458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRAT 213 1 382 28 0.0682926829268293 TRUE NA ENSG00000130635.16 . BCM GRCh38.p13 chr9 134730424 134730424 + C C T Silent SNP ENST00000371817.8 exon7 c.C1113T p.G371G exonic ENSG00000130635.16 . synonymous SNV ENSG00000130635.16:ENST00000371817.8:exon7:c.C1113T:p.G371G 9q34.3 C3N-00514 3.312e-05 0 8.657e-05 0 0 4.528e-05 0 0 rs754423580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL5A1 517 0 973 82 0.0777251184834123 TRUE NA ENSG00000184937.15 . BCM GRCh38.p13 chr11 32400008 32400008 + C C T Silent SNP ENST00000452863.9 exon6 c.G1053A p.T351T exonic ENSG00000184937.15 . synonymous SNV ENSG00000184937.15:ENST00000452863.9:exon6:c.G1053A:p.T351T 11p13 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WT1 608 0 1256 81 0.0605833956619297 TRUE NA ENSG00000139292.13 . BCM GRCh38.p13 chr12 71584512 71584512 + G G A Silent SNP ENST00000266674.10 exon18 c.G2502A p.L834L exonic ENSG00000139292.13 . synonymous SNV ENSG00000139292.13:ENST00000266674.10:exon18:c.G2502A:p.L834L 12q21.1 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LGR5 150 0 371 27 0.0678391959798995 TRUE TRUE ENSG00000022840.16 . BCM GRCh38.p13 chr12 120563934 120563934 + C C T Silent SNP ENST00000325954.9 exon10 c.C1656T p.S552S exonic ENSG00000022840.16 . synonymous SNV ENSG00000022840.16:ENST00000325954.9:exon10:c.C1656T:p.S552S 12q24.31 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF10 188 0 379 26 0.0641975308641975 TRUE TRUE ENSG00000176349.11 . BCM GRCh38.p13 chr7 1847764 1847764 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000176349.11 . . . 7p22.3 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC104129.1 91 0 319 26 0.0753623188405797 TRUE NA ENSG00000165802.23 . BCM GRCh38.p13 chr9 137452642 137452642 + G G A Intron SNP NA NA NA NA intronic ENSG00000165802.23 . . . 9q34.3 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NSMF 351 0 761 68 0.0820265379975875 TRUE NA ENSG00000099246.17 . BCM GRCh38.p13 chr10 27542080 27542080 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000099246.17 ENST00000356940.11:c.*4029C>A . . 10p12.1 C3N-00514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB18 405 1 784 61 0.072189349112426 TRUE NA ENSG00000168175.15 . BCM GRCh38.p13 chr14 55051674 55051674 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000168175.15 ENST00000395468.9:c.-10010C>T . . 14q22.3 C3N-00514 2.14e-05 0 0.0001 0 0 1.965e-05 0 0 rs767344249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPK1IP1L 259 0 817 66 0.0747451868629672 TRUE NA ENSG00000134684.10 . BCM GRCh38.p13 chr1 32806551 32806551 + C C G Missense_Mutation SNP ENST00000373477.8 exon4 c.G441C p.K147N exonic ENSG00000134684.10 . nonsynonymous SNV ENSG00000134684.10:ENST00000373477.8:exon4:c.G441C:p.K147N 1p35.1 C3L-02897 . . . . . . . . . 15.20 D D D D D D M T D 0.750 D D D 0.509 0.475 0.843 1.206 D T T T D D 2.346 21.800 0.996 D N 0.103 2.898 -0.077 2.113 0.419 0.707 0.702 0.698 0.714 . 4.820 -1.670 0.219 0.179 -0.181 0.989 0.998 0.976 281 . . . . YARS1 423 0 315 29 0.0843023255813953 TRUE TRUE ENSG00000159450.12 . BCM GRCh38.p13 chr1 152109384 152109384 + T T C Missense_Mutation SNP ENST00000614923.1 exon3 c.A3833G p.D1278G exonic ENSG00000159450.12 . nonsynonymous SNV ENSG00000159450.12:ENST00000614923.1:exon3:c.A3833G:p.D1278G 1q21.3 C3L-02897 . . . . . . . . . 0.19 T T B B . N N T N 0.068 T T T 0.008 0.235 0.188 0.346 T T T T T T 1.260 14.100 0.791 N N -2.031 0.008 -2.106 0.008 1.000 0.765 0.627 0.732 0.527 . 1.160 -2.110 0.576 -0.596 -0.210 0.002 0.000 0.004 478 . . . . TCHH 280 0 202 40 0.165289256198347 TRUE TRUE ENSG00000153201.16 . BCM GRCh38.p13 chr2 108730872 108730872 + T T G Missense_Mutation SNP ENST00000283195.11 exon3 c.T239G p.V80G exonic ENSG00000153201.16 . nonsynonymous SNV ENSG00000153201.16:ENST00000283195.11:exon3:c.T239G:p.V80G 2q13 C3L-02897 . . . . . . . . . 13.19 D D D D . D L T D 0.462 T T D 0.624 0.731 0.816 0.595 T D D D D T 4.127 28.000 0.995 D D 0.620 6.130 0.563 5.784 0.980 0.732 0.710 0.651 0.728 . 4.240 4.240 7.181 1.125 0.588 1.000 0.880 0.855 887 Tetratricopeptide_repeat-containing_domain . . . RANBP2 476 0 330 28 0.0782122905027933 NA TRUE ENSG00000135898.10 . BCM GRCh38.p13 chr2 230910943 230910943 + C C T Missense_Mutation SNP ENST00000650999.1 exon2 c.G20A p.S7N exonic ENSG00000135898.10 . nonsynonymous SNV ENSG00000135898.10:ENST00000650999.1:exon2:c.G20A:p.S7N 2q37.1 C3L-02897 . . . . . . . . . 0.20 T T B B N N L T N 0.042 T T T 0.042 0.166 0.352 0.247 T T T T T T 0.119 2.270 0.964 N N -0.741 0.744 -0.769 0.802 1.000 0.632 0.698 0.547 0.542 . 4.680 2.740 -0.380 1.026 0.549 0.000 0.001 0.087 809 . . . . GPR55 73 0 61 9 0.128571428571429 TRUE TRUE ENSG00000162804.14 . BCM GRCh38.p13 chr2 241081781 241081781 + C C T Missense_Mutation SNP ENST00000310397.13 exon28 c.C4021T p.R1341C exonic ENSG00000162804.14 . nonsynonymous SNV ENSG00000162804.14:ENST00000310397.13:exon28:c.C4021T:p.R1341C 2q37.3 C3L-02897 4.268e-05 0 0 0 0 8.22e-05 0 0 rs749096541 13.20 D D D P N D M D D 0.480 D D D 0.581 . 0.908 1.334 T T T T D D 4.086 27.600 0.999 D N 0.400 4.342 0.354 4.047 1.000 0.660 0.514 0.576 0.592 . 4.330 3.440 1.138 1.026 0.599 0.953 0.991 0.896 982 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . SNED1 179 0 113 6 0.0504201680672269 TRUE NA ENSG00000153802.12 . BCM GRCh38.p13 chr4 67822459 67822459 + G G A Missense_Mutation SNP ENST00000283916.11 exon10 c.C1135T p.R379W exonic ENSG00000153802.12 . nonsynonymous SNV ENSG00000153802.12:ENST00000283916.11:exon10:c.C1135T:p.R379W 4q13.2 C3L-02897 1.653e-05 0 0 0 0.0002 0 0 6.064e-05 rs758167149 9.20 D D D D N N M T D 0.331 T T D 0.276 0.598 0.691 0.462 T D T T D T 3.128 23.700 0.998 N N -0.288 1.645 -0.401 1.371 0.000 0.487 0.574 0.574 0.564 . 5.780 4.010 0.356 0.195 -0.153 0.000 0.982 0.963 878 Serine_proteases,_trypsin_domain . . ID=COSV52224233;OCCURENCE=1(pancreas) TMPRSS11D 221 0 140 14 0.0909090909090909 TRUE TRUE ENSG00000196159.12 . BCM GRCh38.p13 chr4 125316839 125316839 + C C A Missense_Mutation SNP ENST00000674496.1 exon1 c.C428A p.T143N exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon1:c.C428A:p.T143N 4q28.1 C3L-02897 . . . . . . . . . 7.20 D D P P U D N T N 0.309 T T T 0.115 0.419 0.155 0.254 T T T T D D 3.532 24.800 0.986 D D 0.269 3.625 0.299 3.714 1.000 0.447 0.563 0.504 0.581 . 5.200 4.350 6.001 1.026 0.599 1.000 0.987 0.900 932 Cadherin-like . . . FAT4 426 0 278 43 0.133956386292835 TRUE TRUE ENSG00000134516.18 . BCM GRCh38.p13 chr5 169714387 169714387 + G G A Missense_Mutation SNP ENST00000520908.7 exon19 c.G1871A p.R624H exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon19:c.G1871A:p.R624H 5q35.1 C3L-02897 . . . . . . . . . 12.20 D D D D D D M T D 0.647 T T T 0.351 0.434 0.598 1.143 T T T T D D 4.085 27.600 0.999 D D 0.838 9.560 0.790 9.839 1.000 0.672 0.702 0.653 0.568 . 5.790 4.920 10.003 1.176 0.676 1.000 1.000 1.000 952 . . . ID=COSV56943483;OCCURENCE=1(breast),2(liver) DOCK2 221 0 169 15 0.0815217391304348 TRUE TRUE ENSG00000204394.13 . BCM GRCh38.p13 chr6 31785604 31785604 + C C A Missense_Mutation SNP ENST00000375663.8 exon9 c.G1230T p.E410D exonic ENSG00000204394.13 . nonsynonymous SNV ENSG00000204394.13:ENST00000375663.8:exon9:c.G1230T:p.E410D 6p21.33 C3L-02897 . . . . . . . . . 4.19 T T B B D D L T N 0.210 T T T 0.112 0.704 0.222 0.460 T T T T D . 1.383 14.970 0.994 D N -0.180 1.934 -0.100 2.046 1.000 0.707 0.702 0.698 0.714 . 5.290 4.430 0.520 -0.243 -0.182 0.998 0.199 0.679 900 Aminoacyl-tRNA_synthetase,_class_Ia . . . VARS1 196 0 126 7 0.0526315789473684 TRUE TRUE ENSG00000105877.18 . BCM GRCh38.p13 chr7 21687148 21687148 + C C T Missense_Mutation SNP ENST00000409508.8 exon33 c.C5671T p.P1891S exonic ENSG00000105877.18 . nonsynonymous SNV ENSG00000105877.18:ENST00000409508.8:exon33:c.C5671T:p.P1891S 7p15.3 C3L-02897 0.0005 0.0001 9.441e-05 0 0 0.0008 0.0012 0 rs201704416 8.16 D . . . D D . T D 0.787 T T D 0.195 . 0.398 . T T T T T D 3.489 24.700 0.999 D D 0.696 7.069 0.715 8.041 0.482 0.554 0.574 0.618 0.564 . 5.840 5.840 4.974 1.025 0.599 1.000 0.949 0.959 803 Dynein_heavy_chain,_hydrolytic_ATP-binding_dynein_motor_region_D1;AAA+_ATPase_domain . . . DNAH11 164 0 106 12 0.101694915254237 TRUE NA ENSG00000127947.16 . BCM GRCh38.p13 chr7 77627210 77627210 + C C T Missense_Mutation SNP ENST00000248594.11 exon13 c.C1531T p.P511S exonic ENSG00000127947.16 . nonsynonymous SNV ENSG00000127947.16:ENST00000248594.11:exon13:c.C1531T:p.P511S 7q11.23 C3L-02897 . . . . . . . . . 0.20 T T B B N N N T N 0.039 T T T 0.058 0.066 0.204 0.024 T T T T T T 0.710 8.550 0.582 N N -1.171 0.248 -1.120 0.355 0.648 0.707 0.725 0.702 0.711 . 5.930 -0.384 0.436 -0.727 -0.202 0.015 0.225 0.993 906 . . . . PTPN12 138 0 81 11 0.119565217391304 TRUE TRUE ENSG00000105967.16 . BCM GRCh38.p13 chr7 115974171 115974171 + G G T Missense_Mutation SNP ENST00000265440.12 exon3 c.C266A p.T89K exonic ENSG00000105967.16 . nonsynonymous SNV ENSG00000105967.16:ENST00000265440.12:exon3:c.C266A:p.T89K 7q31.2 C3L-02897 . . . . . . . . . 8.20 D D B B N D M T D 0.731 T T T 0.175 0.557 0.466 0.046 T T T T D T 3.066 23.600 0.962 D D 0.128 2.998 0.248 3.430 1.000 0.693 0.588 0.574 0.564 . 4.770 4.770 4.720 1.155 0.674 1.000 1.000 0.997 730 . . . . TFEC 116 0 70 9 0.113924050632911 TRUE TRUE ENSG00000104321.11 . BCM GRCh38.p13 chr8 72039778 72039778 + C C T Missense_Mutation SNP ENST00000262209.5 exon18 c.G2081A p.R694H exonic ENSG00000104321.11 . nonsynonymous SNV ENSG00000104321.11:ENST00000262209.5:exon18:c.G2081A:p.R694H 8q21.11 C3L-02897 1.662e-05 0 0 0 0 3.025e-05 0 0 rs772226867 17.20 D D D D D D M T D 0.723 D D D 0.622 0.786 0.863 0.570 T D D T D D 4.329 29.800 0.999 D D 0.711 7.269 0.682 7.425 0.999 0.554 0.588 0.574 0.564 . 5.220 5.220 6.090 1.026 0.549 1.000 1.000 0.999 887 . . . ID=COSV51560119;OCCURENCE=1(large_intestine) TRPA1 258 0 172 19 0.0994764397905759 TRUE TRUE ENSG00000147724.12 . BCM GRCh38.p13 chr8 138151692 138151692 + C C T Missense_Mutation SNP ENST00000395297.6 exon13 c.G2783A p.G928D exonic ENSG00000147724.12 . nonsynonymous SNV ENSG00000147724.12:ENST00000395297.6:exon13:c.G2783A:p.G928D 8q24.23 C3L-02897 2.472e-05 0 0.0002 0 0 1.499e-05 0 0 rs755060753 0.20 T T B B N N N T N 0.111 T T T 0.040 0.072 0.043 0.081 T T T T T T -0.372 0.220 0.169 N N -1.157 0.259 -1.176 0.303 0.000 0.487 0.574 0.574 0.564 . 5.450 -2.490 -1.233 -0.727 0.599 0.000 0.000 0.380 955 . . . . FAM135B 356 0 251 27 0.0971223021582734 TRUE NA ENSG00000226807.6 . BCM GRCh38.p13 chr8 141477445 141477445 + G G A Missense_Mutation SNP ENST00000621837.1 exon12 c.C1403T p.T468M exonic ENSG00000226807.6 . nonsynonymous SNV ENSG00000226807.6:ENST00000621837.1:exon12:c.C1403T:p.T468M 8q24.3 C3L-02897 0.0006 0.0002 0.0013 0.0005 0 0.0008 0 6.095e-05 rs202047417 1.6 . . . . . . . . . 0.400 . . . . . 0.061 . T . T T . T 3.272 24.000 0.999 D N . . . . 0.654 0.487 0.574 0.547 0.613 . 4.360 4.360 5.061 1.082 0.500 0.770 0.018 0.134 894 . . . ID=COSV101435963;OCCURENCE=1(stomach) MROH5 274 1 220 22 0.0909090909090909 TRUE NA ENSG00000107864.15 . BCM GRCh38.p13 chr10 92052382 92052382 + G G A Missense_Mutation SNP ENST00000265997.5 exon10 c.C1927T p.R643C exonic ENSG00000107864.15 . nonsynonymous SNV ENSG00000107864.15:ENST00000265997.5:exon10:c.C1927T:p.R643C 10q23.32 C3L-02897 . . . . . . . . . 15.20 D D D D D D M T D 0.661 T T T 0.512 0.541 0.871 2.832 D T D D D D 4.475 32 0.999 D D 0.947 12.332 0.939 15.536 1.000 0.651 0.709 0.659 0.655 . 5.810 5.810 10.003 1.176 0.676 1.000 0.979 0.994 927 Cytoplasmic_polyadenylation_element-binding_protein,_ZZ_domain . . . CPEB3 307 0 178 21 0.105527638190955 TRUE NA ENSG00000166272.18 . BCM GRCh38.p13 chr10 102813295 102813295 + C C A Missense_Mutation SNP ENST00000369889.5 exon4 c.C993A p.D331E exonic ENSG00000166272.18 . nonsynonymous SNV ENSG00000166272.18:ENST00000369889.5:exon4:c.C993A:p.D331E 10q24.32 C3L-02897 . . . . . . . . . 7.20 T T D D D D M T N 0.318 T T T 0.222 0.094 0.082 0.907 T T T T D T 2.690 22.800 0.997 D N 0.649 6.463 0.672 7.256 1.000 0.722 0.725 0.710 0.735 . 5.940 5.940 1.713 1.026 0.599 1.000 0.886 0.058 572 . . . . WBP1L 142 0 100 17 0.145299145299145 TRUE TRUE ENSG00000151651.16 . BCM GRCh38.p13 chr10 133273282 133273282 + G G A Missense_Mutation SNP ENST00000445355.8 exon6 c.C545T p.T182M exonic ENSG00000151651.16 . nonsynonymous SNV ENSG00000151651.16:ENST00000445355.8:exon6:c.C545T:p.T182M 10q26.3 C3L-02897 0.0001 0.0003 0 0.0005 0 6.822e-05 0 8.933e-05 rs746594474 0.16 T T P B . N N T N 0.173 . . T . . 0.732 0.154 T T T T . T -0.299 0.313 0.889 N N . . . . 1.000 0.672 0.702 0.645 0.563 . 4.380 -2.480 -0.653 -1.042 -0.968 0.000 0.000 0.000 994 . . . . ADAM8 388 1 307 34 0.0997067448680352 TRUE NA ENSG00000180988.2 . BCM GRCh38.p13 chr11 5820835 5820835 + G G A Missense_Mutation SNP ENST00000317037.2 exon1 c.G500A p.R167H exonic ENSG00000180988.2 . nonsynonymous SNV ENSG00000180988.2:ENST00000317037.2:exon1:c.G500A:p.R167H 11p15.4 C3L-02897 0.0002 0 8.652e-05 0 0 0 0 0.0014 rs551878101 4.20 D T B B N N M T D 0.129 T T T 0.079 0.493 0.422 0.082 T T T T T D 1.519 15.860 0.997 N N -0.303 1.607 -0.249 1.672 0.010 0.554 0.588 0.574 0.564 . 6.110 3.190 0.039 -0.149 -0.121 0.000 0.000 0.875 676 GPCR,_rhodopsin-like,_7TM . . ID=COSV57676973;OCCURENCE=1(liver),1(large_intestine),1(stomach) OR52N2 143 0 88 14 0.137254901960784 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02897 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 333 0 198 28 0.123893805309735 TRUE TRUE ENSG00000125304.10 . BCM GRCh38.p13 chr13 99541599 99541599 + A A T Missense_Mutation SNP ENST00000376387.5 exon9 c.A949T p.M317L exonic ENSG00000125304.10 . nonsynonymous SNV ENSG00000125304.10:ENST00000376387.5:exon9:c.A949T:p.M317L 13q32.3 C3L-02897 . . . . . . . . . 9.20 T T B B D D L T N 0.699 T T T 0.266 0.633 0.672 0.705 D T D D D D 2.696 22.800 0.969 D D 0.081 2.812 0.267 3.533 1.000 0.722 0.699 0.725 0.734 . 5.240 5.240 9.156 1.312 0.691 1.000 1.000 0.997 449 . . . . TM9SF2 161 0 100 10 0.0909090909090909 TRUE TRUE ENSG00000104064.17 . BCM GRCh38.p13 chr15 50304075 50304075 + A A G Missense_Mutation SNP ENST00000220429.12 exon3 c.T167C p.V56A exonic ENSG00000104064.17 . nonsynonymous SNV ENSG00000104064.17:ENST00000220429.12:exon3:c.T167C:p.V56A 15q21.2 C3L-02897 . . . . . . . . . 14.20 D T D D D D L T D 0.689 T T D 0.371 0.590 0.699 3.141 D T D D D D 4.071 27.500 0.998 D D 0.557 5.510 0.613 6.389 1.000 0.706 0.710 0.725 0.714 . 5.450 5.450 9.325 1.288 0.756 1.000 0.959 0.984 701 Ankyrin_repeat-containing_domain . . . GABPB1 219 0 175 10 0.0540540540540541 TRUE TRUE ENSG00000140465.14 . BCM GRCh38.p13 chr15 74720599 74720599 + G G A Missense_Mutation SNP ENST00000379727.8 exon7 c.C1429T p.R477W exonic ENSG00000140465.14 . nonsynonymous SNV ENSG00000140465.14:ENST00000379727.8:exon7:c.C1429T:p.R477W 15q24.1 C3L-02897 0.0003 0.0020 0 0 0.0002 4.507e-05 0.0011 0.0003 rs56240201 10.20 D D D P N N M T D 0.306 T D D 0.270 . 0.965 0.189 T D T T T T 3.103 23.600 0.999 D D 0.415 4.439 0.238 3.374 0.045 0.554 0.588 0.602 0.621 . 5.650 4.700 2.408 1.159 0.672 0.994 0.515 0.071 499 . . . ID=COSV65697213;OCCURENCE=1(breast),1(biliary_tract),1(stomach),1(skin) CYP1A1 133 0 94 8 0.0784313725490196 NA TRUE ENSG00000196155.13 . BCM GRCh38.p13 chr16 67284347 67284347 + G G T Missense_Mutation SNP ENST00000379344.8 exon12 c.G1582T p.G528W exonic ENSG00000196155.13 . nonsynonymous SNV ENSG00000196155.13:ENST00000379344.8:exon12:c.G1582T:p.G528W 16q22.1 C3L-02897 . . . . . . . . . 9.19 D D D D . D M T N 0.677 T T D 0.202 0.422 0.364 1.004 T T T T D T 3.597 25.000 0.991 D N 0.357 4.086 0.204 3.202 1.000 0.696 0.852 0.645 0.563 . 4.330 4.330 6.353 1.176 0.618 1.000 0.010 0.082 23 . . . . PLEKHG4 358 0 252 30 0.106382978723404 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673806 7673806 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G814A p.V272M exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G814A:p.V272M 17p13.1 C3L-02897 2.683e-05 0 9.992e-05 0 0 3.229e-05 0 0 rs121912657 17.20 D D D D D D M D N 0.733 D D D 0.907 0.868 0.965 0.387 T D D D D T 3.966 26.700 0.999 D D 0.829 9.378 0.756 8.946 1.000 0.722 0.702 0.725 0.735 . 5.130 5.130 6.170 1.022 0.596 1.000 0.986 0.996 432 p53,_DNA-binding_domain . . ID=COSV52661812;OCCURENCE=24(breast),3(liver),15(oesophagus),30(large_intestine),8(central_nervous_system),1(biliary_tract),1(vulva),18(ovary),1(bone),9(stomach),15(haematopoietic_and_lymphoid_tissue),2(urinary_tract),2(kidney),2(soft_tissue),9(pancreas),1(skin),2(prostate),11(lung),1(thyroid),6(upper_aerodigestive_tract),1(endometrium) TP53 736 2 475 55 0.10377358490566 NA TRUE ENSG00000158270.12 . BCM GRCh38.p13 chr18 334825 334825 + C C G Missense_Mutation SNP ENST00000400256.5 exon6 c.G1733C p.G578A exonic ENSG00000158270.12 . nonsynonymous SNV ENSG00000158270.12:ENST00000400256.5:exon6:c.G1733C:p.G578A 18p11.32 C3L-02897 . . . . . . . . . 19.20 D T D D D D H D D 0.555 D D D 0.915 0.977 0.831 0.248 D D D D D D 2.737 22.900 0.850 D D 0.626 6.194 0.470 4.895 1.000 0.615 0.574 0.598 0.655 . 5.390 4.520 3.521 1.022 0.596 0.996 0.889 0.626 878 . . . ID=COSV101232129;OCCURENCE=1(stomach) COLEC12 86 0 56 8 0.125 TRUE NA ENSG00000130304.17 . BCM GRCh38.p13 chr19 17486807 17486807 + C C T Missense_Mutation SNP ENST00000252595.12 exon2 c.C412T p.R138W exonic ENSG00000130304.17 . nonsynonymous SNV ENSG00000130304.17:ENST00000252595.12:exon2:c.C412T:p.R138W 19p13.11 C3L-02897 . . . . . . . . . 14.20 D D D D D D H T D 0.831 T T D 0.482 0.707 0.752 1.202 T T D T D D 3.983 26.900 0.999 D D 0.660 6.595 0.534 5.486 0.017 0.646 0.588 0.645 0.655 . 4.920 3.880 2.961 0.943 0.596 1.000 0.997 0.979 940 AMP-dependent_synthetase/ligase . . . SLC27A1 242 0 166 9 0.0514285714285714 TRUE NA ENSG00000100372.15 . BCM GRCh38.p13 chr22 40777275 40777275 + T T C Missense_Mutation SNP ENST00000435456.7 exon6 c.A550G p.M184V exonic ENSG00000100372.15 . nonsynonymous SNV ENSG00000100372.15:ENST00000435456.7:exon6:c.A550G:p.M184V 22q13.2 C3L-02897 . . . . . . . . . 11.20 D T B B D D N T D 0.840 T T D 0.591 0.623 0.809 0.613 T T D D D D 2.972 23.400 0.993 D D 0.163 3.144 0.354 4.049 1.000 0.707 0.725 0.725 0.714 . 5.860 5.860 7.905 1.138 0.665 1.000 1.000 0.998 245 . . . . SLC25A17 124 1 82 12 0.127659574468085 TRUE TRUE ENSG00000102271.14 . BCM GRCh38.p13 chrX 87518069 87518069 + G G A Missense_Mutation SNP ENST00000373119.9 exon1 c.G176A p.R59K exonic ENSG00000102271.14 . nonsynonymous SNV ENSG00000102271.14:ENST00000373119.9:exon1:c.G176A:p.R59K Xq21.31 C3L-02897 . . . . . . . . . 5.19 T T P B N D M T N 0.323 T T D 0.272 0.180 0.662 0.971 T T T T D T 2.578 22.600 0.987 D . . . . . 1.000 . . . . . 5.050 4.190 8.833 1.012 0.596 1.000 1.000 0.994 974 . . . . KLHL4 172 0 98 24 0.19672131147541 TRUE TRUE ENSG00000175707.9 . BCM GRCh38.p13 chr1 26950757 26950757 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000175707.9 ENST00000320567.6:exon3:c.1040-1G>T . . 1p36.11 C3L-02897 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.785 34 0.995 D . 1.105 17.707 0.955 16.320 1.000 0.093 0.094 0.122 0.083 0.986 5.440 5.440 5.434 1.026 0.599 1.000 0.997 0.936 590 . . . . KDF1 179 1 109 12 0.0991735537190083 TRUE TRUE ENSG00000108375.12 . BCM GRCh38.p13 chr17 58363273 58363273 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000108375.12;ENSG00000285897.1 ENST00000584437.5:exon4:c.582+2T>A;ENST00000648873.1:exon4:c.582+2T>A . . 17q22 C3L-02897 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.593 34 0.992 D . 1.126 18.727 0.978 17.543 1.000 0.099 0.105 0.078 0.059 0.978 5.680 5.680 8.473 1.312 0.691 1.000 0.831 0.965 308 . . . . RNF43 114 0 81 15 0.15625 TRUE TRUE ENSG00000119041.11 . BCM GRCh38.p13 chr2 196793043 196793043 + C C T Silent SNP ENST00000263956.8 exon3 c.G324A p.E108E exonic ENSG00000119041.11 . synonymous SNV ENSG00000119041.11:ENST00000263956.8:exon3:c.G324A:p.E108E 2q33.1 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTF3C3 299 5 219 14 0.0600858369098712 NA TRUE ENSG00000172752.14 . BCM GRCh38.p13 chr3 130440791 130440791 + G G A Silent SNP ENST00000265379.10 exon36 c.G6441A p.A2147A exonic ENSG00000172752.14 . synonymous SNV ENSG00000172752.14:ENST00000265379.10:exon36:c.G6441A:p.A2147A 3q22.1 C3L-02897 0.0092 0.0017 0.0037 0 0.0076 0.0143 0.0086 0.0021 rs73214742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55218157;OCCURENCE=1(stomach),1(pancreas) COL6A5 214 1 119 13 0.0984848484848485 TRUE TRUE ENSG00000145934.16 . BCM GRCh38.p13 chr5 168262567 168262567 + C C T Silent SNP ENST00000518659.5 exon29 c.C8082T p.R2694R exonic ENSG00000145934.16 . synonymous SNV ENSG00000145934.16:ENST00000518659.5:exon29:c.C8082T:p.R2694R 5q34 C3L-02897 0.0001 0 0 0 0 0.0002 0 0.0001 rs781070079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM2 211 0 150 16 0.0963855421686747 TRUE NA ENSG00000130713.16 . BCM GRCh38.p13 chr9 130702163 130702163 + C C A Silent SNP ENST00000372358.10 exon7 c.C525A p.S175S exonic ENSG00000130713.16 . synonymous SNV ENSG00000130713.16:ENST00000372358.10:exon7:c.C525A:p.S175S 9q34.12 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EXOSC2 190 0 128 13 0.0921985815602837 TRUE TRUE ENSG00000171794.4 . BCM GRCh38.p13 chr10 133230810 133230810 + C C T Silent SNP ENST00000304477.3 exon1 c.C522T p.N174N exonic ENSG00000171794.4 . synonymous SNV ENSG00000171794.4:ENST00000304477.3:exon1:c.C522T:p.N174N 10q26.3 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTF1 126 0 31 7 0.184210526315789 TRUE TRUE ENSG00000174885.12 . BCM GRCh38.p13 chr11 281522 281522 + G G A Silent SNP ENST00000312165.5 exon4 c.G1788A p.G596G exonic ENSG00000174885.12 . synonymous SNV ENSG00000174885.12:ENST00000312165.5:exon4:c.G1788A:p.G596G 11p15.5 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLRP6 128 0 61 11 0.152777777777778 TRUE NA ENSG00000110435.12 . BCM GRCh38.p13 chr11 34916721 34916721 + C C T Silent SNP ENST00000227868.9 exon1 c.C66T p.G22G exonic ENSG00000110435.12 . synonymous SNV ENSG00000110435.12:ENST00000227868.9:exon1:c.C66T:p.G22G 11p13 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDHX 354 0 231 13 0.0532786885245902 NA TRUE ENSG00000069329.18 . BCM GRCh38.p13 chr16 46662270 46662270 + G G A Silent SNP ENST00000299138.12 exon15 c.C2040T p.G680G exonic ENSG00000069329.18 . synonymous SNV ENSG00000069329.18:ENST00000299138.12:exon15:c.C2040T:p.G680G 16q11.2 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS35 457 0 296 27 0.0835913312693498 TRUE TRUE ENSG00000126457.21 . BCM GRCh38.p13 chr19 49680567 49680567 + C C T Silent SNP ENST00000454376.6 exon3 c.C171T p.Y57Y exonic ENSG00000126457.21 . synonymous SNV ENSG00000126457.21:ENST00000454376.6:exon3:c.C171T:p.Y57Y 19q13.33 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRMT1 297 0 195 18 0.0845070422535211 TRUE NA ENSG00000228672.4 . BCM GRCh38.p13 chr5 139396921 139396921 + A A G IGR SNP NA NA NA NA intergenic ENSG00000228672.4;ENSG00000170469.10 dist=1817;dist=4580 . . 5q31.2 C3L-02897 . . . . . . . . . 4.18 D T B B . N N . N 0.454 T T T 0.163 0.292 0.030 . T T T T D T 2.326 21.700 0.977 D D -0.128 2.087 0.087 2.680 1.000 0.722 0.699 0.696 0.568 . 5.450 5.450 4.783 1.312 0.756 0.990 0.988 0.977 625 . . . . PROB1 189 1 169 21 0.110526315789474 TRUE TRUE ENSG00000196364.9 . BCM GRCh38.p13 chr16 1262635 1262635 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000196364.9 . . . 16p13.3 C3L-02897 7.273e-05 0 0 0.0051 0 0 0 0 rs770982416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS29P 536 0 376 25 0.0623441396508728 TRUE NA ENSG00000162032.16 . BCM GRCh38.p13 chr16 1781199 1781199 + C C T Intron SNP NA NA NA NA intronic ENSG00000162032.16 . . . 16p13.3 C3L-02897 6.101e-05 0 0 0 0 0.0002 0 0 rs765592684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPSB3 230 0 155 32 0.171122994652406 TRUE NA ENSG00000168096.15 . BCM GRCh38.p13 chr16 4700858 4700858 + G G A Intron SNP NA NA NA NA intronic ENSG00000168096.15 . . . 16p13.3 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100422895;OCCURENCE=1(large_intestine) ANKS3 401 0 274 25 0.0836120401337793 TRUE NA ENSG00000234684.7 . BCM GRCh38.p13 chr20 1336416 1336416 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000234684.7 . . . 20p13 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SDCBP2-AS1 380 0 301 26 0.0795107033639144 TRUE NA ENSG00000101966.12 . BCM GRCh38.p13 chrX 123908626 123908626 + T T G 3'UTR SNP NA NA NA NA UTR3 ENSG00000101966.12 ENST00000371199.7:c.*1445T>G . . Xq25 C3L-02897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIAP 48 0 22 5 0.185185185185185 TRUE NA ENSG00000065243.20 . BCM GRCh38.p13 chr1 88828594 88828594 + G G A Missense_Mutation SNP ENST00000370521.8 exon19 c.G2533A p.V845M exonic ENSG00000065243.20 . nonsynonymous SNV ENSG00000065243.20:ENST00000370521.8:exon19:c.G2533A:p.V845M 1p22.2 C3L-01687 . . . . . . . . . 12.20 D D P B U D M T D 0.895 T T T 0.449 0.667 0.837 1.257 D T D D D D 3.497 24.700 0.997 D D 0.695 7.054 0.733 8.426 1.000 0.732 0.744 0.725 0.728 . 5.400 5.400 9.602 1.176 0.676 1.000 0.996 0.969 885 Protein_kinase_domain . . ID=COSV65143304;OCCURENCE=1(central_nervous_system) PKN2 108 0 161 26 0.13903743315508 TRUE TRUE ENSG00000163534.15 . BCM GRCh38.p13 chr1 157804060 157804060 + G G T Missense_Mutation SNP ENST00000368176.8 exon3 c.C104A p.T35N exonic ENSG00000163534.15 . nonsynonymous SNV ENSG00000163534.15:ENST00000368176.8:exon3:c.C104A:p.T35N 1q23.1 C3L-01687 . . . . . . . . . 2.20 T T B B N N L T D 0.271 T T T 0.036 0.454 0.232 0.129 T T T T T T 1.083 12.600 0.948 D N -0.536 1.106 -0.473 1.246 0.254 0.560 0.624 0.574 0.564 . 4.550 2.680 0.470 0.225 -0.106 0.979 0.082 0.026 814 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . FCRL1 266 1 450 80 0.150943396226415 TRUE NA ENSG00000162670.11 . BCM GRCh38.p13 chr1 190226235 190226235 + C C A Nonsense_Mutation SNP ENST00000367462.5 exon6 c.G808T p.E270X exonic ENSG00000162670.11 . stopgain ENSG00000162670.11:ENST00000367462.5:exon6:c.G808T:p.E270X 1q31.1 C3L-01687 . . . . . . . . . 5.6 . . . . D A . . . 0.302 . . . . . . . . . D D . . 7.275 37 0.998 D N 1.136 19.228 0.997 18.669 0.997 0.487 0.574 0.574 0.564 . 5.680 5.680 5.715 1.026 0.599 1.000 1.000 0.996 726 . . . . BRINP3 216 0 319 56 0.149333333333333 TRUE TRUE ENSG00000183780.13 . BCM GRCh38.p13 chr1 234323068 234323068 + T T C Missense_Mutation SNP ENST00000366617.3 exon7 c.T1091C p.I364T exonic ENSG00000183780.13 . nonsynonymous SNV ENSG00000183780.13:ENST00000366617.3:exon7:c.T1091C:p.I364T 1q42.2 C3L-01687 . . . . . . . . . 13.20 D D B B N D M T D 0.784 T T D 0.318 0.527 0.103 1.778 D T D D D D 3.536 24.800 0.998 D D 0.107 2.912 0.230 3.336 1.000 0.696 0.858 0.692 0.584 . 5.620 4.500 7.667 1.138 0.609 1.000 1.000 0.995 969 . . . . SLC35F3 424 1 821 66 0.0744081172491545 TRUE TRUE ENSG00000144118.14 . BCM GRCh38.p13 chr2 120285967 120285967 + G G A Missense_Mutation SNP ENST00000272519.10 exon3 c.G208A p.A70T exonic ENSG00000144118.14 . nonsynonymous SNV ENSG00000144118.14:ENST00000272519.10:exon3:c.G208A:p.A70T 2q14.2 C3L-01687 . . . . . . . . . 20.20 D D D D D D M D D 0.906 D D D 0.795 0.783 0.955 1.951 D D D D D D 4.060 27.400 0.999 D D 0.883 10.612 0.783 9.637 1.000 0.706 0.719 0.710 0.714 . 5.950 5.950 9.858 1.176 0.676 1.000 0.941 0.900 768 Small_GTP-binding_protein_domain . . . RALB 411 0 604 111 0.155244755244755 TRUE NA ENSG00000114923.17 . BCM GRCh38.p13 chr2 219629149 219629149 + C C T Missense_Mutation SNP ENST00000358055.8 exon4 c.C223T p.R75W exonic ENSG00000114923.17 . nonsynonymous SNV ENSG00000114923.17:ENST00000358055.8:exon4:c.C223T:p.R75W 2q35 C3L-01687 1.902e-05 0 0 0 0 3.339e-05 0 0 rs764732530 14.20 D D D D D D L T D 0.861 T T D 0.313 0.460 0.651 . D D T T D D 4.451 32 0.999 D D 0.608 6.003 0.570 5.870 1.000 0.646 0.590 0.645 0.605 . 4.750 4.750 2.346 1.026 0.599 1.000 1.000 0.999 156 . . . . SLC4A3 39 0 59 9 0.132352941176471 TRUE NA ENSG00000159650.9 . BCM GRCh38.p13 chr3 126489297 126489297 + C C T Missense_Mutation SNP ENST00000290868.7 exon17 c.G1687A p.D563N exonic ENSG00000159650.9 . nonsynonymous SNV ENSG00000159650.9:ENST00000290868.7:exon17:c.G1687A:p.D563N 3q21.3 C3L-01687 6.594e-05 0 0 0.0002 0 8.998e-05 0 0 rs372570937 16.20 D D D D D D H T D 0.975 D D D 0.613 . 0.843 0.400 D T T T D D 3.376 24.300 0.999 D D 0.661 6.609 0.446 4.699 1.000 0.487 0.574 0.547 0.613 . 4.590 4.590 7.187 0.980 0.549 1.000 0.143 0.263 846 Urocanase,_C-terminal_domain . . ID=COSV99330990;OCCURENCE=1(large_intestine) UROC1 356 0 670 144 0.176904176904177 TRUE NA ENSG00000151458.12 . BCM GRCh38.p13 chr4 124672280 124672280 + A A C Missense_Mutation SNP ENST00000504087.6 exon4 c.T997G p.L333V exonic ENSG00000151458.12 . nonsynonymous SNV ENSG00000151458.12:ENST00000504087.6:exon4:c.T997G:p.L333V 4q28.1 C3L-01687 . . . . . . . . . 13.20 D D D D D D L T N 0.826 T T D 0.551 0.705 0.943 0.837 D T D D D D 3.246 24.000 0.994 D N 0.151 3.093 0.102 2.742 1.000 0.672 0.588 0.609 0.711 . 5.430 4.580 4.388 0.240 -0.137 1.000 0.964 0.901 933 . . . . ANKRD50 299 1 447 90 0.167597765363128 TRUE TRUE ENSG00000150627.15 . BCM GRCh38.p13 chr4 176128827 176128827 + T T A Missense_Mutation SNP ENST00000280190.8 exon7 c.T952A p.L318I exonic ENSG00000150627.15 . nonsynonymous SNV ENSG00000150627.15:ENST00000280190.8:exon7:c.T952A:p.L318I 4q34.2 C3L-01687 . . . . . . . . . 6.20 T D P B D D L T N 0.582 T T T 0.110 0.337 0.745 0.205 T T T T D D 2.151 20.500 0.985 D N 0.030 2.618 0.128 2.853 0.000 0.554 0.588 0.618 0.564 . 5.450 4.270 2.133 1.138 0.665 1.000 0.983 0.994 970 . . . . WDR17 217 0 330 24 0.0677966101694915 TRUE TRUE ENSG00000040731.10 . BCM GRCh38.p13 chr5 24593260 24593260 + C C G Missense_Mutation SNP ENST00000264463.8 exon2 c.G231C p.K77N exonic ENSG00000040731.10 . nonsynonymous SNV ENSG00000040731.10:ENST00000264463.8:exon2:c.G231C:p.K77N 5p14.2 C3L-01687 . . . . . . . . . 13.20 D D D P D D H T D 0.655 T T D 0.270 0.528 0.797 0.626 D T T T D D 5.084 33 0.998 D D 0.541 5.368 0.472 4.917 0.137 0.487 0.574 0.574 0.564 . 4.370 3.490 7.104 1.026 0.549 1.000 0.999 0.736 939 Cadherin-like . . . CDH10 176 0 232 35 0.131086142322097 TRUE TRUE ENSG00000205359.10 . BCM GRCh38.p13 chr5 102399644 102399644 + G G T Nonsense_Mutation SNP ENST00000506729.6 exon10 c.C1725A p.C575X exonic ENSG00000205359.10 . stopgain ENSG00000205359.10:ENST00000506729.6:exon10:c.C1725A:p.C575X 5q21.1 C3L-01687 . . . . . . . . . 4.6 . . . . D A . . . 0.260 . . . . . . . . . D D . . 5.247 33 0.983 N N -0.093 2.198 -0.396 1.379 0.000 0.487 0.574 0.574 0.564 . 5.420 1.200 0.461 0.073 -0.106 0.505 0.917 0.561 251 . . . . SLCO6A1 170 0 247 16 0.0608365019011407 TRUE TRUE ENSG00000105851.11 . BCM GRCh38.p13 chr7 106868991 106868991 + G G A Missense_Mutation SNP ENST00000496166.6 exon2 c.G1430A p.R477H exonic ENSG00000105851.11 . nonsynonymous SNV ENSG00000105851.11:ENST00000496166.6:exon2:c.G1430A:p.R477H 7q22.3 C3L-01687 4.953e-05 0 0 0 0 9.011e-05 0 0 rs200175951 1.20 T T B B N N N T N 0.090 T T T 0.168 . 0.381 0.507 T T T T T D 1.892 18.430 0.929 N N -0.548 1.084 -0.394 1.382 1.000 0.615 0.654 0.574 0.655 . 6.020 1.220 3.002 -0.101 0.676 0.986 0.912 0.990 274 Phosphatidylinositol_3-kinase,_C2_domain . . ID=COSV63245400;OCCURENCE=1(oesophagus),2(large_intestine),2(central_nervous_system),1(prostate),1(endometrium) PIK3CG 259 0 414 28 0.0633484162895928 TRUE TRUE ENSG00000154415.8 . BCM GRCh38.p13 chr7 113879942 113879942 + C C T Missense_Mutation SNP ENST00000284601.4 exon4 c.G1150A p.V384I exonic ENSG00000154415.8 . nonsynonymous SNV ENSG00000154415.8:ENST00000284601.4:exon4:c.G1150A:p.V384I 7q31.1 C3L-01687 0.0001 0 0 0 0 0 0.0011 0.0008 rs533705714 0.20 T T B B N N N T N 0.020 T T T 0.038 0.079 0.302 0.038 T T T T T T -0.248 0.403 0.641 N N -1.460 0.094 -1.361 0.172 0.000 0.487 0.574 0.574 0.564 . 5.550 -2.670 0.604 -0.509 -0.836 0.311 0.638 0.677 801 . . . ID=COSV52882352;OCCURENCE=1(stomach) PPP1R3A 180 0 299 21 0.065625 TRUE TRUE ENSG00000147647.13 . BCM GRCh38.p13 chr8 104428000 104428000 + C C T Missense_Mutation SNP ENST00000351513.7 exon6 c.G1072A p.V358I exonic ENSG00000147647.13 . nonsynonymous SNV ENSG00000147647.13:ENST00000351513.7:exon6:c.G1072A:p.V358I 8q22.3 C3L-01687 1.647e-05 9.61e-05 0 0.0001 0 0 0 0 rs769403392 7.20 T T B B N D N D N 0.170 T D D 0.205 0.597 0.767 0.121 T T T T T D 1.367 14.860 0.994 D D -0.226 1.804 -0.032 2.253 1.000 0.487 0.590 0.574 0.657 . 5.950 5.080 1.841 1.026 0.599 0.913 0.997 0.997 501 Amidohydrolase-related . . . DPYS 487 1 748 123 0.141216991963261 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971112 21971112 + G G C Missense_Mutation SNP ENST00000304494.9 exon2 c.C247G p.H83D exonic ENSG00000147889.17 . nonsynonymous SNV ENSG00000147889.17:ENST00000304494.9:exon2:c.C247G:p.H83D 9p21.3 C3L-01687 . . . . . . . . rs121913385 14.18 D D D D . D . T D 0.918 T T D 0.771 0.726 0.934 1.433 T D D D D D 4.569 32 0.995 D D 0.745 7.793 0.793 9.921 1.000 0.677 0.383 0.608 0.601 . 5.930 5.930 9.231 1.176 0.676 1.000 0.843 0.926 900 Ankyrin_repeat-containing_domain . . ID=COSV58690009;OCCURENCE=2(breast),1(liver),2(pancreas),2(skin),1(lung) CDKN2A 385 0 750 191 0.202975557917109 TRUE TRUE ENSG00000156650.14 . BCM GRCh38.p13 chr10 75030180 75030180 + G G A Missense_Mutation SNP ENST00000287239.10 exon18 c.G5356A p.E1786K exonic ENSG00000156650.14 . nonsynonymous SNV ENSG00000156650.14:ENST00000287239.10:exon18:c.G5356A:p.E1786K 10q22.2 C3L-01687 . . . . . . . . rs906740657 17.19 D D D D D D M D D 0.608 D D D 0.576 0.405 0.590 0.621 T T D D D . 3.679 25.300 0.998 D D 0.716 7.344 0.747 8.731 1.000 0.707 0.702 0.725 0.636 . 5.540 5.540 7.757 1.176 0.676 1.000 0.969 0.949 23 . . . ID=COSV54744157;OCCURENCE=1(urinary_tract) KAT6B 327 0 615 40 0.0610687022900763 TRUE TRUE ENSG00000010379.16 . BCM GRCh38.p13 chr12 224484 224484 + G G A Missense_Mutation SNP ENST00000343164.9 exon10 c.C1090T p.R364W exonic ENSG00000010379.16 . nonsynonymous SNV ENSG00000010379.16:ENST00000343164.9:exon10:c.C1090T:p.R364W 12p13.33 C3L-01687 9.965e-05 9.854e-05 0 0 0 0.0001 0 0.0002 rs149299701 17.20 D D D D D D M T D 0.791 D D D 0.874 . 0.960 0.437 T T D D D D 4.326 29.800 0.999 D D 0.637 6.319 0.548 5.630 0.000 0.516 0.610 0.547 0.564 . 5.610 3.600 3.950 1.176 0.665 1.000 0.975 0.832 934 . . . ID=COSV58255715;OCCURENCE=2(large_intestine) SLC6A13 240 0 464 36 0.072 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01687 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 349 1 543 88 0.13946117274168 TRUE TRUE ENSG00000172915.18 . BCM GRCh38.p13 chr13 35161796 35161796 + T T A Missense_Mutation SNP ENST00000400445.7 exon23 c.T3908A p.V1303D exonic ENSG00000172915.18 . nonsynonymous SNV ENSG00000172915.18:ENST00000400445.7:exon23:c.T3908A:p.V1303D 13q13.3 C3L-01687 . . . . . . . . . 9.20 T T P B D D L T N 0.894 T T D 0.210 0.322 0.614 0.946 T T D D D D 3.517 24.800 0.962 D D 0.126 2.990 0.244 3.408 1.000 0.626 0.588 0.805 0.568 . 5.040 5.040 7.951 1.138 0.609 1.000 0.908 0.985 919 . . . . NBEA 298 1 535 80 0.130081300813008 TRUE TRUE ENSG00000083520.15 . BCM GRCh38.p13 chr13 72771881 72771881 + - NA A Frame_Shift_Ins INS ENST00000377767.9 exon11 c.1518dupT p.A507Cfs*2 exonic ENSG00000083520.15 . frameshift insertion ENSG00000083520.15:ENST00000377767.9:exon11:c.1518dupT:p.A507Cfs*2 13q21.33 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIS3 NA NA NA NA NA NA NA ENSG00000128731.18 . BCM GRCh38.p13 chr15 28270723 28270723 + G G A Missense_Mutation SNP ENST00000261609.13 exon10 c.C1229T p.P410L exonic ENSG00000128731.18 . nonsynonymous SNV ENSG00000128731.18:ENST00000261609.13:exon10:c.C1229T:p.P410L 15q13.1 C3L-01687 8.243e-06 0 8.64e-05 0 0 0 0 0 rs779830734 11.19 D . D D D D M T D 0.834 T T T 0.367 0.470 0.440 0.147 T T T T D D 4.077 27.600 0.998 D D 0.707 7.224 0.721 8.159 1.000 0.707 0.546 0.725 0.636 . 5.700 5.700 9.937 1.150 0.646 1.000 0.688 0.403 856 . . . ID=COSV55334806;OCCURENCE=1(large_intestine),1(bone) HERC2 205 0 350 57 0.14004914004914 NA TRUE ENSG00000134160.14 . BCM GRCh38.p13 chr15 31038045 31038045 + G G A Missense_Mutation SNP ENST00000397795.6 exon18 c.C2372T p.T791M exonic ENSG00000134160.14 . nonsynonymous SNV ENSG00000134160.14:ENST00000397795.6:exon18:c.C2372T:p.T791M 15q13.3 C3L-01687 5.801e-05 0.0001 0 0 0.0002 2.999e-05 0 0.0002 rs377044822 0.20 T T B B N N N T N 0.097 T T T 0.064 . 0.110 0.215 T T T T T T 0.803 9.420 0.908 N N -1.574 0.061 -1.499 0.108 0.000 0.487 0.574 0.547 0.564 . 5.330 -1.090 0.341 -0.957 -0.704 0.041 0.317 0.187 819 . . . ID=COSV99855070;OCCURENCE=1(large_intestine) TRPM1 389 0 577 86 0.129713423831071 TRUE NA ENSG00000103222.19 . BCM GRCh38.p13 chr16 16106738 16106738 + - NA CAGCTCAG Frame_Shift_Ins INS ENST00000399410.8 exon21 c.2736_2737insCAGCTCAG p.S918Afs*33 exonic ENSG00000103222.19 . frameshift insertion ENSG00000103222.19:ENST00000399410.8:exon21:c.2736_2737insCAGCTCAG:p.S918Afs*33 16p13.11 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCC1 NA NA NA NA NA NA NA ENSG00000277481.1 . BCM GRCh38.p13 chr16 71978259 71978259 + - NA T Frame_Shift_Ins INS ENST00000620267.1 exon10 c.1522dupA p.I508Nfs*2 exonic ENSG00000277481.1 . frameshift insertion ENSG00000277481.1:ENST00000620267.1:exon10:c.1522dupA:p.I508Nfs*2 16q22.2 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKD1L3 NA NA NA NA NA NA NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674244 7674258 + CTGTTACACATGTAG CTGTTACACATGTAG - In_Frame_Del DEL ENST00000269305.8 exon7 c.705_719del p.Y236_S240del exonic ENSG00000141510.17 . nonframeshift deletion ENSG00000141510.17:ENST00000269305.8:exon7:c.705_719del:p.Y236_S240del 17p13.1 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 400 0 534 93 0.148325358851675 TRUE TRUE ENSG00000101680.15 . BCM GRCh38.p13 chr18 7049116 7049116 + G G A Missense_Mutation SNP ENST00000389658.4 exon5 c.C730T p.R244W exonic ENSG00000101680.15 . nonsynonymous SNV ENSG00000101680.15:ENST00000389658.4:exon5:c.C730T:p.R244W 18p11.31 C3L-01687 4.119e-05 0 0.0002 0 0 4.495e-05 0 0 rs200626690 13.20 D D D D D D M T D 0.383 T T T 0.319 . 0.454 0.520 T D T T D D 4.232 29.000 0.999 D D 0.625 6.191 0.588 6.072 1.000 0.732 0.574 0.744 0.564 . 5.860 4.980 3.149 0.207 0.676 1.000 0.673 0.966 882 Laminin,_N-terminal . . ID=COSV101055738;OCCURENCE=1(prostate),1(endometrium) LAMA1 365 1 711 89 0.11125 TRUE NA ENSG00000101654.17 . BCM GRCh38.p13 chr18 13740203 13740203 + G G A Missense_Mutation SNP ENST00000383314.6 exon6 c.G716A p.R239Q exonic ENSG00000101654.17 . nonsynonymous SNV ENSG00000101654.17:ENST00000383314.6:exon6:c.G716A:p.R239Q 18p11.21 C3L-01687 . . . . . . . . . 17.19 D D D D D D H . D 0.923 D D D 0.610 0.941 0.796 0.740 T T D D D D 4.371 31 1.000 D D 1.056 15.803 0.996 18.604 1.000 0.732 0.744 0.744 0.714 . 5.760 5.760 9.184 1.155 0.676 1.000 1.000 1.000 708 mRNA_(guanine-N(7))-methyltransferase_domain . . . RNMT 316 1 439 33 0.0699152542372881 TRUE NA ENSG00000141858.12 . BCM GRCh38.p13 chr19 14090367 14090367 + - NA GTGGTG In_Frame_Ins INS ENST00000533683.7 exon1 c.53_54insCACCAC p.T18_A19insTT exonic ENSG00000141858.12 . nonframeshift insertion ENSG00000141858.12:ENST00000533683.7:exon1:c.53_54insCACCAC:p.T18_A19insTT 19p13.12 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD1 NA NA NA NA NA NA NA ENSG00000159905.14 . BCM GRCh38.p13 chr19 43967181 43967181 + G G A Missense_Mutation SNP ENST00000251269.9 exon6 c.G1679A p.R560Q exonic ENSG00000159905.14 . nonsynonymous SNV ENSG00000159905.14:ENST00000251269.9:exon6:c.G1679A:p.R560Q 19q13.31 C3L-01687 0.0004 0.0045 0.0002 0 0 1.499e-05 0 6.058e-05 rs147168648 3.19 D D D P . N L T N 0.150 T T T 0.051 . 0.355 0.030 T T T T T T 1.812 17.820 0.999 N N 0.005 2.529 -0.138 1.943 0.002 0.563 0.588 0.609 0.492 . 2.770 1.610 0.240 -0.336 -0.206 0.000 0.014 0.012 656 Zinc_finger_C2H2-type . . ID=COSV104569801;OCCURENCE=1(central_nervous_system) ZNF221 158 0 295 95 0.243589743589744 TRUE NA ENSG00000105287.12 . BCM GRCh38.p13 chr19 46694126 46694126 + G G A Missense_Mutation SNP ENST00000433867.5 exon11 c.C1325T p.P442L exonic ENSG00000105287.12 . nonsynonymous SNV ENSG00000105287.12:ENST00000433867.5:exon11:c.C1325T:p.P442L 19q13.32 C3L-01687 8.351e-06 0 0 0 0 1.521e-05 0 0 rs763539356 17.20 D D P P D D M T D 0.930 D D D 0.711 0.768 0.821 1.920 D D D D D D 3.992 26.900 0.999 D D 0.774 8.288 0.712 7.988 1.000 0.707 0.702 0.725 0.714 . 4.730 4.730 9.948 1.176 0.676 1.000 0.639 0.656 929 Pleckstrin_homology_domain . . ID=COSV99354200;OCCURENCE=1(cervix) PRKD2 118 0 241 50 0.171821305841924 TRUE NA ENSG00000089177.18 . BCM GRCh38.p13 chr20 16406409 16406409 + G G A Missense_Mutation SNP ENST00000354981.6 exon16 c.C1660T p.P554S exonic ENSG00000089177.18 . nonsynonymous SNV ENSG00000089177.18:ENST00000354981.6:exon16:c.C1660T:p.P554S 20p12.1 C3L-01687 . . . . . . . . . 18.20 D D D D D D L D D 0.826 D D D 0.703 0.436 0.900 0.559 T D D D D D 4.077 27.600 0.999 D D 0.863 10.145 0.880 12.929 1.000 0.638 0.670 0.659 0.568 . 5.950 5.950 9.158 1.176 0.676 1.000 0.983 0.996 801 . . . . KIF16B 219 0 382 26 0.0637254901960784 NA TRUE ENSG00000101191.17 . BCM GRCh38.p13 chr20 62894154 62894158 + TTTTT TTTTT - Frame_Shift_Del DEL ENST00000395343.6 exon12 c.2609_2613del p.K870Tfs*8 exonic ENSG00000101191.17 . frameshift deletion ENSG00000101191.17:ENST00000395343.6:exon12:c.2609_2613del:p.K870Tfs*8 20q13.33 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIDO1 126 0 220 35 0.137254901960784 TRUE TRUE ENSG00000196924.18 . BCM GRCh38.p13 chrX 154366368 154366368 + C C T Missense_Mutation SNP ENST00000369850.10 exon8 c.G1168A p.G390S exonic ENSG00000196924.18 . nonsynonymous SNV ENSG00000196924.18:ENST00000369850.10:exon8:c.G1168A:p.G390S Xq28 C3L-01687 1.156e-05 0.0001 0 0 0 0 0 0 rs199766573 18.19 D D D D D D H D D 0.793 D D D 0.903 . 0.978 1.426 T D D D D D 3.550 24.900 0.847 D . . . . . 1.000 . . . . . 4.710 4.710 7.849 1.021 0.543 1.000 0.595 0.546 86 . . . . FLNA 330 2 774 55 0.0663449939686369 TRUE NA ENSG00000143252.15 . BCM GRCh38.p13 chr1 161356711 161356711 + C C T Silent SNP ENST00000367975.7 exon5 c.C276T p.L92L exonic ENSG00000143252.15 . synonymous SNV ENSG00000143252.15:ENST00000367975.7:exon5:c.C276T:p.L92L 1q23.3 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100713603;OCCURENCE=1(skin) SDHC 341 1 616 101 0.140864714086471 TRUE TRUE ENSG00000075340.23 . BCM GRCh38.p13 chr2 70692403 70692403 + C C T Silent SNP ENST00000264436.9 exon7 c.G705A p.A235A exonic ENSG00000075340.23 . synonymous SNV ENSG00000075340.23:ENST00000264436.9:exon7:c.G705A:p.A235A 2p13.3 C3L-01687 2.794e-05 0 0 0 0 4.811e-05 0 0 rs781804198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52472118;OCCURENCE=1(large_intestine) ADD2 43 0 105 17 0.139344262295082 TRUE TRUE ENSG00000198648.11 . BCM GRCh38.p13 chr2 168075205 168075205 + A A G Silent SNP ENST00000355999.5 exon11 c.T1116C p.G372G exonic ENSG00000198648.11 . synonymous SNV ENSG00000198648.11:ENST00000355999.5:exon11:c.T1116C:p.G372G 2q24.3 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STK39 237 0 391 26 0.0623501199040767 TRUE TRUE ENSG00000113296.14 . BCM GRCh38.p13 chr5 80059490 80059490 + C C T Silent SNP ENST00000350881.6 exon6 c.C783T p.C261C exonic ENSG00000113296.14 . synonymous SNV ENSG00000113296.14:ENST00000350881.6:exon6:c.C783T:p.C261C 5q14.1 C3L-01687 8.237e-06 0 8.639e-05 0 0 0 0 0 rs561944130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THBS4 211 0 299 35 0.104790419161677 TRUE NA ENSG00000148396.18 . BCM GRCh38.p13 chr9 136476359 136476359 + C C T Silent SNP ENST00000313050.11 exon1 c.G1257A p.G419G exonic ENSG00000148396.18 . synonymous SNV ENSG00000148396.18:ENST00000313050.11:exon1:c.G1257A:p.G419G 9q34.3 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC16A 221 0 443 82 0.156190476190476 TRUE TRUE ENSG00000161681.15 . BCM GRCh38.p13 chr19 50667220 50667220 + T T C Silent SNP ENST00000293441.5 exon22 c.A4740G p.P1580P exonic ENSG00000161681.15 . synonymous SNV ENSG00000161681.15:ENST00000293441.5:exon22:c.A4740G:p.P1580P 19q13.33 C3L-01687 0.0001 0 0 0 0 0.0002 0 0 rs763099836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHANK1 170 0 311 85 0.214646464646465 TRUE NA ENSG00000089177.18 . BCM GRCh38.p13 chr20 16406389 16406389 + G G A Silent SNP ENST00000354981.6 exon16 c.C1680T p.L560L exonic ENSG00000089177.18 . synonymous SNV ENSG00000089177.18:ENST00000354981.6:exon16:c.C1680T:p.L560L 20p12.1 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61706295;OCCURENCE=1(skin) KIF16B 164 0 293 16 0.0517799352750809 TRUE TRUE ENSG00000171940.13 . BCM GRCh38.p13 chr20 53577105 53577105 + T T C Silent SNP ENST00000371471.6 exon4 c.A1659G p.Q553Q exonic ENSG00000171940.13 . synonymous SNV ENSG00000171940.13:ENST00000371471.6:exon4:c.A1659G:p.Q553Q 20q13.2 C3L-01687 8.238e-06 0 0 0 0 0 0 6.056e-05 rs752565233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF217 368 0 677 96 0.124191461836999 TRUE NA ENSG00000181433.9 . BCM GRCh38.p13 chrX 135908541 135908541 + C C T Silent SNP ENST00000324447.7 exon12 c.C1365T p.N455N exonic ENSG00000181433.9 . synonymous SNV ENSG00000181433.9:ENST00000324447.7:exon12:c.C1365T:p.N455N Xq26.3 C3L-01687 1.17e-05 0 0 0 0 0 0 0.0001 rs782556186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100186857;OCCURENCE=1(stomach) SAGE1 141 0 218 35 0.138339920948617 TRUE NA ENSG00000269934.3 . BCM GRCh38.p13 chr1 228272003 228272003 + C C A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000269934.3 . . . 1q42.13 C3L-01687 . . . . . . . . . 0.13 . T . . . N . T . 0.345 T T T 0.178 . 0.171 0.339 T . T T T T 0.629 7.792 0.493 N N -0.576 1.032 -0.729 0.859 0.955 0.696 0.610 0.723 0.421 . 4.950 0.924 -0.014 0.069 -0.299 0.000 0.305 0.003 445 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . AL353593.1 277 0 599 78 0.115214180206795 TRUE TRUE ENSG00000105339.10 . BCM GRCh38.p13 chr8 141158198 141158198 + G G A Intron SNP NA NA NA NA intronic ENSG00000105339.10 . . . 8q24.3 C3L-01687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DENND3 129 0 252 54 0.176470588235294 TRUE NA ENSG00000153930.12 . BCM GRCh38.p13 chr17 56510565 56510565 + G G A IGR SNP NA NA NA NA intergenic ENSG00000153930.12;ENSG00000243058.1 dist=27919;dist=62475 . . 17q22 C3L-01687 . . . . . . . . . 6.10 . D . . . D . T . 0.258 . . D . . 0.729 . . T T T . D 4.311 29.700 0.999 D D . . . . 1.000 0.526 0.574 0.616 0.564 . 4.830 4.830 9.943 1.176 0.676 1.000 1.000 0.997 56 . . . . ANKFN1 356 0 627 81 0.114406779661017 TRUE TRUE ENSG00000281732.1 . BCM GRCh38.p13 chr22 48544693 48544693 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000281732.1 . . . 22q13.32 C3L-01687 . . . . . . . . rs867817171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Z84468.1 124 0 213 47 0.180769230769231 TRUE NA ENSG00000174332.5 . BCM GRCh38.p13 chr1 53529924 53529924 + C C T Missense_Mutation SNP ENST00000312233.4 exon4 c.G824A p.R275Q exonic ENSG00000174332.5 . nonsynonymous SNV ENSG00000174332.5:ENST00000312233.4:exon4:c.G824A:p.R275Q 1p32.3 C3N-02940 1.662e-05 0 0 0 0 3.028e-05 0 0 rs142254031 10.20 D T D P D D N T D 0.746 T T T 0.322 . 0.605 0.153 D T T T D D 4.005 27.000 0.999 D D 0.554 5.489 0.573 5.902 1.000 0.497 0.590 0.578 0.563 . 4.580 4.580 7.905 1.026 0.549 0.990 0.977 0.957 531 Zinc_finger_C2H2-type . . . GLIS1 181 0 263 34 0.114478114478114 TRUE NA ENSG00000058799.15 . BCM GRCh38.p13 chr1 53871390 53871390 + C C T Missense_Mutation SNP ENST00000072644.7 exon7 c.G463A p.V155M exonic ENSG00000058799.15 . nonsynonymous SNV ENSG00000058799.15:ENST00000072644.7:exon7:c.G463A:p.V155M 1p32.3 C3N-02940 8.238e-06 0 0 0 0 1.499e-05 0 0 rs764033322 10.20 T T D D D D M T N 0.612 T T D 0.105 0.223 0.613 0.224 T T T T D D 3.947 26.600 0.998 D D 0.752 7.906 0.751 8.831 1.000 0.732 0.744 0.710 0.714 . 5.690 5.690 5.921 1.026 0.599 1.000 1.000 0.992 857 Yip1_domain . . . YIPF1 148 0 229 13 0.0537190082644628 TRUE NA ENSG00000134249.7 . BCM GRCh38.p13 chr1 119894622 119894622 + G G A Missense_Mutation SNP ENST00000369400.2 exon1 c.C1715T p.T572M exonic ENSG00000134249.7 . nonsynonymous SNV ENSG00000134249.7:ENST00000369400.2:exon1:c.C1715T:p.T572M 1p12 C3N-02940 2.474e-05 0 0 0.0001 0 1.5e-05 0 6.057e-05 rs367708640 6.20 D D D P N N M T D 0.174 T T T 0.119 . 0.409 0.505 T T T T D T 2.016 19.380 0.997 N N -0.055 2.322 -0.287 1.591 1.000 0.497 0.590 0.547 0.542 . 5.280 3.380 -0.301 1.089 0.676 0.000 0.148 0.085 881 ADAM,_cysteine-rich . . ID=COSV101023996;OCCURENCE=1(prostate) ADAM30 292 1 457 356 0.437884378843788 TRUE NA ENSG00000133019.11 . BCM GRCh38.p13 chr1 239907527 239907527 + G G A Missense_Mutation SNP ENST00000255380.8 exon5 c.G76A p.D26N exonic ENSG00000133019.11 . nonsynonymous SNV ENSG00000133019.11:ENST00000255380.8:exon5:c.G76A:p.D26N 1q43 C3N-02940 4.952e-05 0 0 0 0 9.011e-05 0 0 rs200014816 0.20 T T B B N N N T N 0.160 T T T 0.093 0.133 0.383 0.466 T T T T T T 1.060 12.350 0.963 N N -0.633 0.928 -0.531 1.152 0.004 0.615 0.574 0.659 0.564 . 5.600 3.610 1.625 0.220 -0.120 0.256 0.009 0.428 971 . . . ID=COSV99698054;OCCURENCE=2(skin) CHRM3 242 0 426 33 0.0718954248366013 TRUE NA ENSG00000180432.6 . BCM GRCh38.p13 chr3 42874439 42874439 + G G C Missense_Mutation SNP ENST00000316161.6 exon1 c.C1378G p.H460D exonic ENSG00000180432.6 . nonsynonymous SNV ENSG00000180432.6:ENST00000316161.6:exon1:c.C1378G:p.H460D 3p22.1 C3N-02940 . . . . . . . . . 7.20 T T P B U D L T D 0.298 T T D 0.145 0.505 0.277 0.244 T D T T D T 2.028 19.470 0.969 D D -0.358 1.476 -0.422 1.333 0.824 0.497 0.590 0.547 0.542 . 5.150 -1.940 2.251 -0.243 -0.113 0.963 0.910 0.995 657 . . . . CYP8B1 385 1 618 41 0.0622154779969651 TRUE TRUE ENSG00000172046.19 . BCM GRCh38.p13 chr3 49117774 49117774 + C C A Missense_Mutation SNP ENST00000398888.6 exon4 c.G355T p.D119Y exonic ENSG00000172046.19 . nonsynonymous SNV ENSG00000172046.19:ENST00000398888.6:exon4:c.G355T:p.D119Y 3p21.31 C3N-02940 . . . . . . . . . 13.20 D D D D D D M T D 0.713 T T D 0.397 0.620 0.305 0.689 T T T T D D 3.689 25.400 0.994 D D 0.562 5.558 0.549 5.640 1.000 0.719 0.698 0.723 0.636 . 4.770 4.770 4.499 0.947 0.599 0.991 0.996 0.993 0 CS_domain . . . USP19 222 0 370 25 0.0632911392405063 TRUE TRUE ENSG00000187054.15 . BCM GRCh38.p13 chr4 67946551 67946551 + C C T Missense_Mutation SNP ENST00000334830.11 exon2 c.G32A p.R11Q exonic ENSG00000187054.15 . nonsynonymous SNV ENSG00000187054.15:ENST00000334830.11:exon2:c.G32A:p.R11Q 4q13.2 C3N-02940 . . . . . . . . rs1037515820 1.16 T T . . N N . D N 0.080 T T T 0.240 . 0.427 0.113 T . T T T T -1.073 0.005 0.738 N N -2.098 0.006 -2.208 0.005 0.949 0.487 0.574 0.574 0.564 . 4.590 -9.170 -4.109 -3.361 -1.682 0.000 0.000 0.000 789 . . . ID=COSV58356942;OCCURENCE=1(pancreas),1(skin),1(lung) TMPRSS11A 150 0 270 18 0.0625 TRUE TRUE ENSG00000138792.10 . BCM GRCh38.p13 chr4 110476783 110476783 + C C G Missense_Mutation SNP ENST00000265162.10 exon1 c.C369G p.I123M exonic ENSG00000138792.10 . nonsynonymous SNV ENSG00000138792.10:ENST00000265162.10:exon1:c.C369G:p.I123M 4q25 C3N-02940 . . . . . . . . . 4.20 D D P P N N M T N 0.342 T T T 0.057 0.580 0.198 0.498 T T T T D T 2.849 23.100 0.982 N N -0.367 1.456 -0.541 1.137 0.992 0.447 0.563 0.492 0.530 . 5.830 3.040 0.044 1.000 -0.214 0.025 0.187 0.173 734 . . . . ENPEP 596 0 953 63 0.062007874015748 TRUE TRUE ENSG00000168843.14 . BCM GRCh38.p13 chr4 161386375 161386375 + G G T Missense_Mutation SNP ENST00000306100.10 exon16 c.C1916A p.T639K exonic ENSG00000168843.14 . nonsynonymous SNV ENSG00000168843.14:ENST00000306100.10:exon16:c.C1916A:p.T639K 4q32.2 C3N-02940 . . . . . . . . . 10.20 D D B B D D M T D 0.220 T T T 0.232 0.610 0.573 0.377 T T T T D D 2.914 23.200 0.994 D D 0.467 4.789 0.541 5.557 0.506 0.638 0.574 0.574 0.668 . 5.530 5.530 5.822 1.176 0.676 1.000 1.000 0.998 979 . . . ID=COSV60183216;OCCURENCE=1(oesophagus) FSTL5 197 0 264 38 0.125827814569536 TRUE TRUE ENSG00000152034.11 . BCM GRCh38.p13 chr6 99934500 99934500 + G G A Missense_Mutation SNP ENST00000281806.7 exon5 c.C605T p.T202M exonic ENSG00000152034.11 . nonsynonymous SNV ENSG00000152034.11:ENST00000281806.7:exon5:c.C605T:p.T202M 6q16.2 C3N-02940 . . . . . . . . rs376688154 3.20 T T B B N D L T N 0.444 T T D 0.321 . 0.930 0.162 T T T T T T 2.737 22.900 0.983 D N 0.015 2.566 0.124 2.835 0.993 0.487 0.574 0.547 0.564 . 5.330 4.470 3.127 1.006 0.676 1.000 0.971 0.974 493 GPCR,_rhodopsin-like,_7TM . . ID=COSV56009994;OCCURENCE=1(oesophagus),1(prostate),1(lung) MCHR2 55 0 86 5 0.0549450549450549 TRUE TRUE ENSG00000122691.13 . BCM GRCh38.p13 chr7 19116954 19116954 + G G A Missense_Mutation SNP ENST00000242261.6 exon1 c.C368T p.S123L exonic ENSG00000122691.13 . nonsynonymous SNV ENSG00000122691.13:ENST00000242261.6:exon1:c.C368T:p.S123L 7p21.1 C3N-02940 . . . . . . . . . 20.20 D D D D D D M D D 0.618 D D D 0.791 0.458 0.999 2.510 D D D D D D 4.483 32 0.998 D D 0.389 4.277 0.366 4.127 1.000 0.598 0.596 0.504 0.604 . 4.650 3.760 6.727 1.085 0.607 1.000 1.000 0.996 964 Myc-type,_basic_helix-loop-helix_(bHLH)_domain . . . TWIST1 243 0 335 22 0.061624649859944 TRUE TRUE ENSG00000221900.6 . BCM GRCh38.p13 chr7 53036107 53036107 + C C T Missense_Mutation SNP ENST00000408890.6 exon1 c.C436T p.R146C exonic ENSG00000221900.6 . nonsynonymous SNV ENSG00000221900.6:ENST00000408890.6:exon1:c.C436T:p.R146C 7p12.1 C3N-02940 2.616e-05 0 0 0 0 4.775e-05 0 0 rs761437622 3.19 D D P B . N L T D 0.166 T T T 0.019 . 0.126 0.093 T T T T T T 0.878 10.200 0.985 N N -0.739 0.748 -0.921 0.591 0.000 0.487 0.574 0.547 0.564 . 1.950 0.986 -1.598 -0.519 -0.202 0.000 0.000 0.001 981 . . . ID=COSV101374907;OCCURENCE=1(stomach),1(upper_aerodigestive_tract) POM121L12 373 0 574 38 0.0620915032679739 TRUE NA ENSG00000106665.16 . BCM GRCh38.p13 chr7 74353952 74353952 + G G A Missense_Mutation SNP ENST00000223398.11 exon4 c.G751A p.V251M exonic ENSG00000106665.16 . nonsynonymous SNV ENSG00000106665.16:ENST00000223398.11:exon4:c.G751A:p.V251M 7q11.23 C3N-02940 4.951e-05 0 0 0 0 6.004e-05 0 0.0001 rs535427245 20.20 D D D D D D H D D 0.918 D D D 0.886 0.706 0.955 1.722 D D D D D D 4.196 28.600 0.999 D D 1.118 18.333 1.024 20.384 1.000 0.707 0.702 0.607 0.714 . 5.500 5.500 9.743 1.176 0.676 1.000 1.000 1.000 911 CAP_Gly-rich_domain . . ID=COSV56281778;OCCURENCE=1(biliary_tract) CLIP2 178 0 282 15 0.0505050505050505 TRUE TRUE ENSG00000197140.15 . BCM GRCh38.p13 chr8 39223055 39223055 + G G A Missense_Mutation SNP ENST00000379907.9 exon14 c.G1342A p.V448I exonic ENSG00000197140.15 . nonsynonymous SNV ENSG00000197140.15:ENST00000379907.9:exon14:c.G1342A:p.V448I 8p11.22 C3N-02940 0.0004 0.0027 0.0003 0.0003 0 7.917e-05 0 0.0004 rs143711220 0.20 T T P B N N L T N 0.159 T T T 0.022 . 0.040 0.045 T T T T T T -1.076 0.005 0.617 N N -1.875 0.017 -2.085 0.009 1.000 0.554 0.574 0.574 0.621 . 5.550 -11.100 -1.840 -0.783 -0.781 0.000 0.004 0.074 819 Disintegrin,_conserved_site;Disintegrin_domain . . ID=COSV65949246;OCCURENCE=1(large_intestine),1(stomach) ADAM32 242 0 345 22 0.0599455040871935 TRUE TRUE ENSG00000106852.15 . BCM GRCh38.p13 chr9 122226476 122226476 + C C T Missense_Mutation SNP ENST00000373755.6 exon3 c.G274A p.V92M exonic ENSG00000106852.15 . nonsynonymous SNV ENSG00000106852.15:ENST00000373755.6:exon3:c.G274A:p.V92M 9q33.2 C3N-02940 . . . . . . . . . 12.20 D D P B D D L D N 0.528 D D D 0.408 0.449 0.678 2.582 T T T T D D 2.937 23.300 0.998 D D 0.415 4.437 0.471 4.905 1.000 0.677 0.563 0.607 0.601 . 5.350 5.350 3.715 1.026 0.599 1.000 1.000 1.000 936 Zinc_finger,_LIM-type . . . LHX6 233 0 324 28 0.0795454545454545 TRUE NA ENSG00000148187.18 . BCM GRCh38.p13 chr9 122313285 122313285 + G G T Missense_Mutation SNP ENST00000344641.8 exon6 c.G610T p.A204S exonic ENSG00000148187.18 . nonsynonymous SNV ENSG00000148187.18:ENST00000344641.8:exon6:c.G610T:p.A204S 9q33.2 C3N-02940 . . . . . . . . . 5.20 T T P P D D L T N 0.217 T T T 0.105 0.615 0.690 0.166 T T T T D T 3.104 23.600 0.996 D D 0.355 4.074 0.441 4.665 1.000 0.732 0.725 0.744 0.714 . 5.140 5.140 5.812 1.176 0.676 1.000 1.000 0.998 950 Ribosome_recycling_factor_domain . . . MRRF 343 0 541 35 0.0607638888888889 TRUE TRUE ENSG00000138161.14 . BCM GRCh38.p13 chr10 122834910 122834910 + T T C Missense_Mutation SNP ENST00000392790.6 exon7 c.A1178G p.Y393C exonic ENSG00000138161.14 . nonsynonymous SNV ENSG00000138161.14:ENST00000392790.6:exon7:c.A1178G:p.Y393C 10q26.13 C3N-02940 . . . . . . . . . 16.19 D D D D D D M T D 0.728 D D D 0.633 0.805 0.911 0.422 . D D D D T 3.278 24.100 0.997 D N 0.419 4.460 0.315 3.805 0.159 0.732 0.588 0.744 0.528 . 4.810 4.810 1.947 1.138 0.609 0.977 0.992 0.810 950 Zona_pellucida_domain . . . CUZD1 95 0 124 9 0.0676691729323308 TRUE TRUE ENSG00000182022.18 . BCM GRCh38.p13 chr10 124042439 124042439 + G G A Missense_Mutation SNP ENST00000435907.6 exon4 c.C895T p.R299C exonic ENSG00000182022.18 . nonsynonymous SNV ENSG00000182022.18:ENST00000435907.6:exon4:c.C895T:p.R299C 10q26.13 C3N-02940 8.263e-06 0 0 0 0 0 0 6.118e-05 rs544235718 15.19 D D D D D D M . D 0.880 T T T 0.673 0.747 0.506 1.099 D T D D D D 4.261 29.200 0.999 D D 0.721 7.419 0.712 7.987 1.000 0.615 0.624 0.659 0.636 . 5.720 5.720 4.813 1.172 0.672 1.000 0.990 0.843 844 . . . . CHST15 102 0 169 15 0.0815217391304348 TRUE NA ENSG00000166341.8 . BCM GRCh38.p13 chr11 6621877 6621877 + C C T Missense_Mutation SNP ENST00000299441.5 exon21 c.G9799A p.V3267I exonic ENSG00000166341.8 . nonsynonymous SNV ENSG00000166341.8:ENST00000299441.5:exon21:c.G9799A:p.V3267I 11p15.4 C3N-02940 2.014e-05 0.0002 0 0 0 0 0 0 rs530939498 5.20 T T D B N D L T N 0.346 T T T 0.150 . 0.351 0.357 T T T T T D 2.742 22.900 0.988 D D 0.420 4.467 0.475 4.936 1.000 0.707 0.627 0.723 0.714 . 5.010 5.010 4.162 1.026 0.599 0.993 0.971 0.982 526 . . . ID=COSV100197569;OCCURENCE=1(endometrium) DCHS1 159 0 185 15 0.075 TRUE NA ENSG00000254598.3 . BCM GRCh38.p13 chr11 11352324 11352324 + C C T Missense_Mutation SNP ENST00000528848.3 exon1 c.G796A p.D266N exonic ENSG00000254598.3 . nonsynonymous SNV ENSG00000254598.3:ENST00000528848.3:exon1:c.G796A:p.D266N 11p15.4 C3N-02940 . . . . . . . . . 3.14 . T P P . D N T . 0.265 . . T . . 0.107 0.346 T T T T . D 2.717 22.900 0.791 D N . . . . 1.000 0.294 0.333 0.293 0.331 . 1.860 1.860 4.010 0.288 0.445 1.000 0.920 0.939 940 Protein_kinase_domain . . . CSNK2A3 457 0 654 40 0.0576368876080692 NA TRUE ENSG00000006071.15 . BCM GRCh38.p13 chr11 17393698 17393698 + G G A Missense_Mutation SNP ENST00000389817.8 exon38 c.C4607T p.A1536V exonic ENSG00000006071.15 . nonsynonymous SNV ENSG00000006071.15:ENST00000389817.8:exon38:c.C4607T:p.A1536V 11p15.1 C3N-02940 1.648e-05 0 0 0 0 0 0 0.0001 rs745918247 19.20 D D D P D D M D D 0.982 D D D 0.951 0.822 0.957 1.645 D D D D D D 5.087 33 0.999 D D 0.856 9.978 0.792 9.905 1.000 0.615 0.547 0.659 0.542 . 5.080 5.080 9.310 1.089 0.676 1.000 0.998 0.977 594 ABC_transporter-like;AAA+_ATPase_domain . . ID=COSV56854756;OCCURENCE=1(large_intestine),1(stomach) ABCC8 599 1 900 60 0.0625 TRUE TRUE ENSG00000179817.5 . BCM GRCh38.p13 chr11 18174203 18174203 + C C T Missense_Mutation SNP ENST00000314254.3 exon1 c.C947T p.S316L exonic ENSG00000179817.5 . nonsynonymous SNV ENSG00000179817.5:ENST00000314254.3:exon1:c.C947T:p.S316L 11p15.1 C3N-02940 . . . . . . . . . 4.20 D D P P N N L T D 0.081 T T T 0.024 0.248 0.506 0.186 T T T T D T 1.644 16.660 0.979 N N -0.426 1.326 -0.704 0.894 0.005 0.487 0.563 0.574 0.542 . 2.010 1.080 -0.232 -0.203 -0.387 0.000 0.000 0.002 840 . . . ID=COSV58590471;OCCURENCE=1(ovary) MRGPRX4 134 0 206 13 0.0593607305936073 NA TRUE ENSG00000172572.6 . BCM GRCh38.p13 chr12 20630103 20630103 + T T C Missense_Mutation SNP ENST00000359062.3 exon6 c.T1736C p.L579P exonic ENSG00000172572.6 . nonsynonymous SNV ENSG00000172572.6:ENST00000359062.3:exon6:c.T1736C:p.L579P 12p12.2 C3N-02940 . . . . . . . . . 0.20 T T B B N N N T N 0.380 T T T 0.115 0.304 0.189 0.109 T T T T T T 1.874 18.290 0.979 N N -0.795 0.662 -0.712 0.882 1.000 0.707 0.574 0.659 0.714 . 5.380 1.660 2.519 0.188 0.644 0.108 0.930 0.998 931 . . . . PDE3A 319 0 432 23 0.0505494505494506 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-02940 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 261 0 427 71 0.142570281124498 TRUE TRUE ENSG00000123360.12 . BCM GRCh38.p13 chr12 54576638 54576638 + C C T Missense_Mutation SNP ENST00000243052.8 exon14 c.C1444T p.R482C exonic ENSG00000123360.12 . nonsynonymous SNV ENSG00000123360.12:ENST00000243052.8:exon14:c.C1444T:p.R482C 12q13.2 C3N-02940 8.363e-06 0 0 0.0001 0 0 0 0 rs764032346 13.20 D D D D D D L T D 0.600 T T D 0.536 0.475 0.508 1.095 T T T D D D 3.654 25.200 0.999 D D 0.553 5.472 0.563 5.785 1.000 0.707 0.725 0.602 0.542 . 4.860 4.860 3.339 1.026 0.599 1.000 0.826 0.171 686 3'5'-cyclic_nucleotide_phosphodiesterase,_catalytic_domain . . ID=COSV54495233;OCCURENCE=2(skin) PDE1B 361 0 524 42 0.0742049469964664 TRUE TRUE ENSG00000089250.19 . BCM GRCh38.p13 chr12 117243336 117243336 + G G A Missense_Mutation SNP ENST00000317775.11 exon19 c.C2923T p.R975C exonic ENSG00000089250.19 . nonsynonymous SNV ENSG00000089250.19:ENST00000317775.11:exon19:c.C2923T:p.R975C 12q24.22 C3N-02940 2.485e-05 0.0001 0 0.0001 0 1.499e-05 0 0 rs771520384 15.20 D D D D D D M T D 0.712 T T D 0.679 0.621 0.742 1.624 T D T D D D 4.465 32 0.999 D D 0.661 6.611 0.573 5.902 1.000 0.615 0.574 0.659 0.564 . 3.590 3.590 7.339 1.163 0.618 1.000 1.000 0.999 921 . . . ID=COSV100499775;OCCURENCE=1(large_intestine) NOS1 189 0 299 22 0.0685358255451713 TRUE NA ENSG00000133980.5 . BCM GRCh38.p13 chr14 74358219 74358219 + C C T Missense_Mutation SNP ENST00000256362.5 exon2 c.C1436T p.A479V exonic ENSG00000133980.5 . nonsynonymous SNV ENSG00000133980.5:ENST00000256362.5:exon2:c.C1436T:p.A479V 14q24.3 C3N-02940 6.804e-05 0.0001 0.0004 0.0001 0 1.559e-05 0 0 rs756291711 0.20 T T B B N N N T N 0.005 T T T 0.027 0.108 0.043 0.432 T T T T T T -2.010 0.001 0.649 N N -2.021 0.008 -2.112 0.008 1.000 0.722 0.590 0.699 0.542 . 4.290 -8.570 -2.065 -1.561 -2.150 0.000 0.000 0.000 269 . . . ID=COSV56439091;OCCURENCE=1(biliary_tract),1(ovary) VRTN 76 0 107 9 0.0775862068965517 TRUE NA ENSG00000156414.19 . BCM GRCh38.p13 chr14 103928657 103928657 + G G A Missense_Mutation SNP ENST00000409874.9 exon1 c.G148A p.A50T exonic ENSG00000156414.19 . nonsynonymous SNV ENSG00000156414.19:ENST00000409874.9:exon1:c.G148A:p.A50T 14q32.33 C3N-02940 . . . . . . . . . 0.19 T T B B . N N T N 0.055 T T T 0.006 0.212 0.014 0.205 T T T T T T -0.100 0.829 0.850 N N -1.812 0.022 -1.922 0.020 1.000 0.554 0.588 0.578 0.605 . 4.070 -8.150 -1.312 -0.974 0.609 0.000 0.000 0.003 446 . . . . TDRD9 43 0 71 7 0.0897435897435897 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674893 7674893 + C C A Missense_Mutation SNP ENST00000269305.8 exon6 c.G638T p.R213L exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon6:c.G638T:p.R213L 17p13.1 C3N-02940 . . . . . . . . rs587778720 19.20 D D D D D D M D D 0.964 D D D 0.929 0.930 0.995 1.850 T D D D D D 4.252 29.100 0.998 D D 0.690 6.986 0.553 5.678 0.999 0.722 0.698 0.702 0.735 . 5.280 4.320 7.905 1.026 0.599 0.954 0.996 0.998 433 p53,_DNA-binding_domain . . ID=COSV52668963;OCCURENCE=3(breast),12(liver),4(oesophagus),1(adrenal_gland),14(large_intestine),2(central_nervous_system),3(ovary),2(stomach),3(haematopoietic_and_lymphoid_tissue),1(kidney),1(soft_tissue),6(urinary_tract),8(pancreas),3(prostate),10(lung),1(thyroid),9(upper_aerodigestive_tract),1(eye) TP53 395 0 485 90 0.156521739130435 TRUE TRUE ENSG00000141161.11 . BCM GRCh38.p13 chr17 35150167 35150167 + C C T Missense_Mutation SNP ENST00000268876.9 exon4 c.C325T p.R109W exonic ENSG00000141161.11 . nonsynonymous SNV ENSG00000141161.11:ENST00000268876.9:exon4:c.C325T:p.R109W 17q12 C3N-02940 3.311e-05 0 0 0.0002 0 1.504e-05 0 6.173e-05 rs774414887 9.20 D D D D N N L T D 0.333 T T D 0.167 . 0.770 0.102 T T T T T D 3.499 24.700 0.999 D D 0.029 2.616 -0.039 2.232 1.000 0.497 0.547 0.547 0.542 . 4.550 -1.540 1.099 -0.308 0.599 0.787 0.660 0.982 912 Tetratricopeptide_repeat-containing_domain . . ID=COSV52098827;OCCURENCE=1(large_intestine) UNC45B 143 0 252 15 0.0561797752808989 TRUE TRUE ENSG00000105559.12 . BCM GRCh38.p13 chr19 48859093 48859093 + G G A Missense_Mutation SNP ENST00000263265.11 exon8 c.C739T p.R247C exonic ENSG00000105559.12 . nonsynonymous SNV ENSG00000105559.12:ENST00000263265.11:exon8:c.C739T:p.R247C 19q13.33 C3N-02940 . . . . . . . . . 12.20 D D D D N D M T D 0.596 T T T 0.127 0.375 0.650 0.971 D T T T D D 4.504 32 0.999 D D 0.288 3.716 0.238 3.377 1.000 0.617 0.749 0.786 0.605 . 4.780 3.730 4.595 1.101 0.590 0.998 0.912 0.642 749 . . . . PLEKHA4 77 0 124 8 0.0606060606060606 TRUE NA ENSG00000125787.11 . BCM GRCh38.p13 chr20 3044521 3044521 + G G A Missense_Mutation SNP ENST00000245983.6 exon2 c.G107A p.R36Q exonic ENSG00000125787.11 . nonsynonymous SNV ENSG00000125787.11:ENST00000245983.6:exon2:c.G107A:p.R36Q 20p13 C3N-02940 2.485e-05 9.681e-05 8.675e-05 0 0 1.508e-05 0 0 rs61729221 4.19 D D P B . N L T D 0.283 T T T 0.061 . 0.381 0.047 T D T T T T 0.265 3.883 0.925 N N -0.823 0.622 -0.894 0.628 1.000 0.421 0.551 0.514 0.646 . 4.270 -0.102 0.665 -1.493 -0.292 0.736 0.002 0.044 830 . . . ID=COSV55661492;OCCURENCE=1(stomach) GNRH2 234 0 354 45 0.112781954887218 TRUE TRUE ENSG00000088827.12 . BCM GRCh38.p13 chr20 3697268 3697268 + G G A Missense_Mutation SNP ENST00000344754.5 exon9 c.C2197T p.R733W exonic ENSG00000088827.12 . nonsynonymous SNV ENSG00000088827.12:ENST00000344754.5:exon9:c.C2197T:p.R733W 20p13 C3N-02940 5.809e-05 0.0002 0 0.0001 0 6.052e-05 0 0 rs142675072 4.20 D D D P N N M T N 0.509 T T T 0.141 . 0.613 0.502 T T T T T T 2.982 23.400 0.999 N N -0.031 2.403 -0.178 1.840 0.005 0.487 0.574 0.578 0.563 . 5.310 4.330 0.813 0.219 0.662 0.001 0.004 0.455 735 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . SIGLEC1 498 1 740 43 0.0549169859514687 TRUE NA ENSG00000124212.6 . BCM GRCh38.p13 chr20 49511079 49511079 + G G A Missense_Mutation SNP ENST00000244043.5 exon9 c.C1307T p.A436V exonic ENSG00000124212.6 . nonsynonymous SNV ENSG00000124212.6:ENST00000244043.5:exon9:c.C1307T:p.A436V 20q13.13 C3N-02940 1.651e-05 0 0 0 0 1.501e-05 0 6.066e-05 rs267605985 15.20 D D D D D D M T D 0.651 T T D 0.605 0.808 0.896 0.381 T T D D D D 3.611 25.100 0.999 D D 0.564 5.577 0.492 5.089 1.000 0.706 0.590 0.710 0.580 . 5.260 5.260 6.465 1.176 0.671 1.000 0.016 0.810 420 . . . . PTGIS 294 0 421 33 0.0726872246696035 TRUE NA ENSG00000165195.15 . BCM GRCh38.p13 chrX 15324857 15324857 + T T G Missense_Mutation SNP ENST00000333590.5 exon5 c.A996C p.R332S exonic ENSG00000165195.15 . nonsynonymous SNV ENSG00000165195.15:ENST00000333590.5:exon5:c.A996C:p.R332S Xp22.2 C3N-02940 . . . . . . . . . 9.19 T T B B D D L T D 0.573 T T D 0.507 0.485 0.785 0.652 T D D T D D 1.806 17.780 0.975 D . . . . . 0.995 . . . . . 5.690 3.840 1.612 0.104 -0.218 1.000 0.973 0.964 111 Glycosyl_transferase,_family_1 . . . PIGA 72 0 112 9 0.0743801652892562 TRUE TRUE ENSG00000169083.17 . BCM GRCh38.p13 chrX 67545771 67545771 + G G A Missense_Mutation SNP ENST00000374690.9 exon1 c.G625A p.G209R exonic ENSG00000169083.17 . nonsynonymous SNV ENSG00000169083.17:ENST00000374690.9:exon1:c.G625A:p.G209R Xq12 C3N-02940 1.306e-05 0 0 0 0 2.389e-05 0 0 rs775392428 7.16 D T . . N N . D D 0.453 D D D 0.293 . 0.976 1.245 T T T T T D 2.702 22.800 0.982 N . . . . . 1.000 . . . . . 5.150 2.230 1.557 1.164 0.660 0.742 0.872 0.875 563 . . . . AR 106 0 140 12 0.0789473684210526 TRUE NA ENSG00000130224.15 . BCM GRCh38.p13 chrX 115123085 115123085 + G G A Missense_Mutation SNP ENST00000317135.13 exon18 c.C1957T p.R653C exonic ENSG00000130224.15 . nonsynonymous SNV ENSG00000130224.15:ENST00000317135.13:exon18:c.C1957T:p.R653C Xq23 C3N-02940 . . . . . . . . . 14.19 D D D D D D M T D 0.815 T T D 0.382 0.757 0.373 1.541 D D T T D D 3.759 25.700 0.999 D . . . . . 0.999 . . . . . 5.310 5.310 6.124 1.172 0.614 1.000 0.977 0.659 937 Calponin_homology_domain . . ID=COSV57747909;OCCURENCE=1(breast),1(large_intestine),1(stomach),1(skin),4(endometrium) LRCH2 75 0 92 9 0.0891089108910891 TRUE TRUE ENSG00000204019.5 . BCM GRCh38.p13 chrX 116461755 116461755 + G G A Missense_Mutation SNP ENST00000371894.5 exon2 c.C328T p.R110W exonic ENSG00000204019.5 . nonsynonymous SNV ENSG00000204019.5:ENST00000371894.5:exon2:c.C328T:p.R110W Xq23 C3N-02940 . . . . . . . . . 1.17 T T B B N N N . D 0.076 T T T 0.137 0.188 0.014 0.007 . T T T T T -0.033 1.142 0.888 N . . . . . 1.000 . . . . . 5.140 -6.560 -1.451 -0.842 -0.324 0.000 0.005 0.011 949 . . . . CT83 63 0 90 19 0.174311926605505 TRUE TRUE ENSG00000279804.2 . BCM GRCh38.p13 chr1 13225301 13225301 + C C T Silent SNP ENST00000624297.2 exon2 c.G420A p.R140R exonic ENSG00000279804.2 . synonymous SNV ENSG00000279804.2:ENST00000624297.2:exon2:c.G420A:p.R140R 1p36.21 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRAMEF18 710 0 749 55 0.068407960199005 NA TRUE ENSG00000153820.13 . BCM GRCh38.p13 chr2 228019153 228019153 + G G A Silent SNP ENST00000392056.8 exon7 c.C1701T p.A567A exonic ENSG00000153820.13 . synonymous SNV ENSG00000153820.13:ENST00000392056.8:exon7:c.C1701T:p.A567A 2q36.3 C3N-02940 0.0001 0.0002 8.645e-05 0 0 0.0001 0 0.0002 rs371211421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPHKAP 298 0 457 37 0.0748987854251012 TRUE NA ENSG00000218336.9 . BCM GRCh38.p13 chr4 182738543 182738543 + C C T Silent SNP ENST00000511685.6 exon18 c.C3378T p.N1126N exonic ENSG00000218336.9 . synonymous SNV ENSG00000218336.9:ENST00000511685.6:exon18:c.C3378T:p.N1126N 4q35.1 C3N-02940 3.352e-05 0 0 0 0 6.036e-05 0 0 rs757218648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM3 78 0 163 18 0.0994475138121547 TRUE NA ENSG00000112992.18 . BCM GRCh38.p13 chr5 43656030 43656030 + C C T Silent SNP ENST00000344920.9 exon15 c.C2250T p.G750G exonic ENSG00000112992.18 . synonymous SNV ENSG00000112992.18:ENST00000344920.9:exon15:c.C2250T:p.G750G 5p12 C3N-02940 5.772e-05 0 0 0 0 0 0 0.0004 rs748327925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NNT 279 0 440 39 0.081419624217119 TRUE NA ENSG00000145832.14 . BCM GRCh38.p13 chr5 135880063 135880063 + C C T Silent SNP ENST00000433282.6 exon7 c.C909T p.R303R exonic ENSG00000145832.14 . synonymous SNV ENSG00000145832.14:ENST00000433282.6:exon7:c.C909T:p.R303R 5q31.1 C3N-02940 6.995e-05 0 0 0 0 0 0.0055 0 rs780395889 1.4 . . . . . D . . . . . . . . . . . . . . . . T 0.568 7.202 0.809 N N . . . . 1.000 0.554 0.590 0.602 0.542 . 5.830 -8.330 -0.565 -1.522 -0.780 0.065 0.056 0.742 766 . . . . SLC25A48 203 0 306 18 0.0555555555555556 TRUE NA ENSG00000087116.16 . BCM GRCh38.p13 chr5 179113945 179113945 + G G A Silent SNP ENST00000251582.12 exon22 c.C3558T p.P1186P exonic ENSG00000087116.16 . synonymous SNV ENSG00000087116.16:ENST00000251582.12:exon22:c.C3558T:p.P1186P 5q35.3 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS2 388 0 575 59 0.0930599369085174 TRUE TRUE ENSG00000230873.9 . BCM GRCh38.p13 chr6 17130809 17130809 + C C T Silent SNP ENST00000536551.6 exon5 c.C759T p.N253N exonic ENSG00000230873.9 . synonymous SNV ENSG00000230873.9:ENST00000536551.6:exon5:c.C759T:p.N253N 6p22.3 C3N-02940 0.0002 0 0 0 0 0.0003 0 0.0001 rs760258726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STMND1 96 0 162 12 0.0689655172413793 TRUE NA ENSG00000169894.18 . BCM GRCh38.p13 chr7 100959561 100959561 + T T C Silent SNP ENST00000379458.9 exon2 c.T7782C p.P2594P exonic ENSG00000169894.18 . synonymous SNV ENSG00000169894.18:ENST00000379458.9:exon2:c.T7782C:p.P2594P 7q22.1 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC3A 51 0 75 4 0.0506329113924051 TRUE NA ENSG00000187122.17 . BCM GRCh38.p13 chr10 97060768 97060768 + G G A Silent SNP ENST00000266058.9 exon9 c.C813T p.R271R exonic ENSG00000187122.17 . synonymous SNV ENSG00000187122.17:ENST00000266058.9:exon9:c.C813T:p.R271R 10q24.1 C3N-02940 2.136e-05 0 0 0 0 0 0 0.0002 rs774778879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56586381;OCCURENCE=1(large_intestine) SLIT1 137 0 262 20 0.0709219858156028 TRUE TRUE ENSG00000182791.5 . BCM GRCh38.p13 chr11 66590676 66590676 + C C T Silent SNP ENST00000333861.5 exon1 c.G2340A p.E780E exonic ENSG00000182791.5 . synonymous SNV ENSG00000182791.5:ENST00000333861.5:exon1:c.G2340A:p.E780E 11q13.2 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC87 215 0 359 23 0.0602094240837696 TRUE TRUE ENSG00000077498.9 . BCM GRCh38.p13 chr11 89178190 89178190 + G G A Silent SNP ENST00000263321.6 exon1 c.G237A p.S79S exonic ENSG00000077498.9 . synonymous SNV ENSG00000077498.9:ENST00000263321.6:exon1:c.G237A:p.S79S 11q14.3 C3N-02940 1.655e-05 9.639e-05 0 0.0001 0 0 0 0 rs376813190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54469844;OCCURENCE=2(large_intestine),1(central_nervous_system),3(urinary_tract) TYR 502 0 620 41 0.0620272314674735 TRUE TRUE ENSG00000136111.14 . BCM GRCh38.p13 chr13 75312766 75312766 + G G A Silent SNP ENST00000377636.8 exon13 c.C2355T p.N785N exonic ENSG00000136111.14 . synonymous SNV ENSG00000136111.14:ENST00000377636.8:exon13:c.C2355T:p.N785N 13q22.2 C3N-02940 8.282e-06 0.0001 0 0 0 0 0 0 rs527354382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D4 270 0 387 49 0.112385321100917 TRUE NA ENSG00000197102.12 . BCM GRCh38.p13 chr14 102027816 102027816 + A A G Silent SNP ENST00000360184.10 exon47 c.A9246G p.S3082S exonic ENSG00000197102.12 . synonymous SNV ENSG00000197102.12:ENST00000360184.10:exon47:c.A9246G:p.S3082S 14q32.31 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYNC1H1 698 0 1051 71 0.0632798573975045 TRUE TRUE ENSG00000130479.11 . BCM GRCh38.p13 chr19 17726353 17726353 + C C T Silent SNP ENST00000324096.9 exon5 c.C969T p.D323D exonic ENSG00000130479.11 . synonymous SNV ENSG00000130479.11:ENST00000324096.9:exon5:c.C969T:p.D323D 19p13.11 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP1S 400 0 540 35 0.0608695652173913 TRUE TRUE ENSG00000196218.13 . BCM GRCh38.p13 chr19 38458189 38458189 + C C T Silent SNP ENST00000359596.8 exon18 c.C2064T p.T688T exonic ENSG00000196218.13 . synonymous SNV ENSG00000196218.13:ENST00000359596.8:exon18:c.C2064T:p.T688T 19q13.2 C3N-02940 8.341e-06 0 0 0.0001 0 0 0 0 rs764993324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62097525;OCCURENCE=1(lung) RYR1 387 0 466 268 0.365122615803815 TRUE TRUE ENSG00000198300.14 . BCM GRCh38.p13 chr19 56815262 56815262 + G G A Silent SNP ENST00000326441.15 exon10 c.C3180T p.G1060G exonic ENSG00000198300.14 . synonymous SNV ENSG00000198300.14:ENST00000326441.15:exon10:c.C3180T:p.G1060G 19q13.43 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55651259;OCCURENCE=1(pancreas) PEG3 125 0 221 13 0.0555555555555556 TRUE TRUE ENSG00000196236.13 . BCM GRCh38.p13 chr22 40914307 40914307 + G G A Silent SNP ENST00000357137.9 exon7 c.G1038A p.T346T exonic ENSG00000196236.13 . synonymous SNV ENSG00000196236.13:ENST00000357137.9:exon7:c.G1038A:p.T346T 22q13.2 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63210168;OCCURENCE=1(stomach) XPNPEP3 514 0 773 131 0.144911504424779 TRUE TRUE ENSG00000102081.15 . BCM GRCh38.p13 chrX 147928712 147928712 + A A C Silent SNP ENST00000370475.9 exon5 c.A324C p.T108T exonic ENSG00000102081.15 . synonymous SNV ENSG00000102081.15:ENST00000370475.9:exon5:c.A324C:p.T108T Xq27.3 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMR1 89 0 114 22 0.161764705882353 TRUE TRUE ENSG00000157168.20 . BCM GRCh38.p13 chr8 32749575 32749575 + G G T Intron SNP NA NA NA NA intronic ENSG00000157168.20 . . . 8p12 C3N-02940 . . . . . . . . . 4.5 . . . . . D . . . 0.810 . . . . . . . . . D D . . 9.214 48 0.996 D N 1.257 30.294 1.121 29.653 1.000 0.615 0.574 0.547 0.655 . 5.590 5.590 9.902 1.176 0.676 1.000 1.000 1.000 844 . . . . NRG1 160 1 228 24 0.0952380952380952 TRUE TRUE ENSG00000254872.3 . BCM GRCh38.p13 chr11 1078486 1078486 + G G A IGR SNP NA NA NA NA intergenic ENSG00000254872.3;ENSG00000198788.8 dist=22737;dist=23969 . . 11p15.5 C3N-02940 0 0 0 0 0 0 0 0 rs780476801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02688 333 1 439 69 0.135826771653543 TRUE NA ENSG00000151067.22 . BCM GRCh38.p13 chr12 2504537 2504537 + C C T Intron SNP NA NA NA NA intronic ENSG00000151067.22 . . . 12p13.33 C3N-02940 8.317e-06 0 0 0 0 0 0 6.061e-05 rs751480224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100216745;OCCURENCE=1(large_intestine),2(lung) CACNA1C 184 2 292 20 0.0641025641025641 TRUE NA ENSG00000090238.12 . BCM GRCh38.p13 chr16 30095395 30095395 + C C A 5'UTR SNP NA NA NA NA UTR5 ENSG00000090238.12 ENST00000398838.8:c.-27G>T . . 16p11.2 C3N-02940 0.0102 0.0013 0.0059 0 0.0089 0.0156 0.0026 0.0025 rs184524218 2.15 T T B B N D . . N 0.065 T T . 0.075 . 0.336 0.673 . . T T T T 2.012 19.350 0.979 D N -0.259 1.716 -0.129 1.965 1.000 0.545 0.522 0.602 0.665 . 3.520 3.520 1.511 1.022 0.596 1.000 1.000 0.999 100 . 0.000 Skin_Not_Sun_Exposed_Suprapubic;Adipose_Subcutaneous;Lung;Skin_Sun_Exposed_Lower_leg ID=COSV54223198;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(lung) YPEL3 86 0 133 10 0.0699300699300699 TRUE TRUE ENSG00000153885.14 . BCM GRCh38.p13 chr19 33813219 33813219 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000153885.14 ENST00000430256.3:c.*271C>T . . 19q13.11 C3N-02940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD15 60 0 81 5 0.0581395348837209 TRUE NA ENSG00000175497.17 . BCM GRCh38.p13 chr2 115836529 115836529 + C C A Nonsense_Mutation SNP ENST00000410059.6 exon23 c.C2073A p.Y691X exonic ENSG00000175497.17 . stopgain ENSG00000175497.17:ENST00000410059.6:exon23:c.C2073A:p.Y691X 2q14.1 C3L-04080 . . . . . . . . . 5.6 . . . . D A . . . 0.938 . . . . . . . . . D D . . 7.284 37 0.994 D N 0.423 4.490 0.224 3.302 0.000 0.638 0.574 0.653 0.564 . 5.280 0.117 0.063 1.026 0.599 0.961 0.996 0.978 903 Peptidase_S9,_prolyl_oligopeptidase,_catalytic_domain . . . DPP10 169 1 171 70 0.29045643153527 TRUE TRUE ENSG00000144229.12 . BCM GRCh38.p13 chr2 136882222 136882222 + G G A Missense_Mutation SNP ENST00000409968.6 exon2 c.G44A p.R15K exonic ENSG00000144229.12 . nonsynonymous SNV ENSG00000144229.12:ENST00000409968.6:exon2:c.G44A:p.R15K 2q22.1 C3L-04080 . . . . . . . . . 1.16 T T . . U N . T N 0.215 T T T 0.054 0.430 0.105 0.140 . T T T T T 1.708 17.080 0.307 D N 0.021 2.586 0.041 2.505 0.000 0.554 0.574 0.602 0.564 . 5.340 4.260 3.585 1.176 0.676 1.000 0.081 0.186 658 . . . . THSD7B 140 0 132 40 0.232558139534884 TRUE TRUE ENSG00000115145.10 . BCM GRCh38.p13 chr2 152175610 152175610 + T T G Missense_Mutation SNP ENST00000263904.5 exon1 c.A33C p.Q11H exonic ENSG00000115145.10 . nonsynonymous SNV ENSG00000115145.10:ENST00000263904.5:exon1:c.A33C:p.Q11H 2q23.3 C3L-04080 . . . . . . . . . 5.20 T T B B D D M T D 0.330 T T T 0.136 0.444 0.307 0.042 T T T T D T 1.275 14.210 0.976 N N -0.547 1.086 -0.531 1.152 1.000 0.442 0.093 0.522 0.562 . 4.810 -2.980 -0.924 -0.031 0.651 0.680 0.983 0.999 693 VHS_domain . . ID=COSV55731296;OCCURENCE=2(liver) STAM2 252 1 484 54 0.100371747211896 TRUE TRUE ENSG00000056097.16 . BCM GRCh38.p13 chr5 32444281 32444281 + A A C Missense_Mutation SNP ENST00000265069.13 exon2 c.T85G p.F29V exonic ENSG00000056097.16 . nonsynonymous SNV ENSG00000056097.16:ENST00000265069.13:exon2:c.T85G:p.F29V 5p13.3 C3L-04080 . . . . . . . . . 11.20 D D B B D D L T D 0.561 T T D 0.302 0.660 0.335 2.473 D T T T D D 3.352 24.300 0.984 D D -0.064 2.290 0.080 2.655 1.000 0.733 0.522 0.601 0.373 . 4.030 4.030 6.513 1.167 0.584 1.000 1.000 0.999 680 . . . . ZFR 275 0 365 58 0.137115839243499 TRUE TRUE ENSG00000047188.16 . BCM GRCh38.p13 chr5 113542373 113542373 + A A T Missense_Mutation SNP ENST00000161863.9 exon10 c.A1365T p.E455D exonic ENSG00000047188.16 . nonsynonymous SNV ENSG00000047188.16:ENST00000161863.9:exon10:c.A1365T:p.E455D 5q22.2 C3L-04080 . . . . . . . . . 5.20 T T B B D D L T N 0.748 T T T 0.163 0.388 0.174 0.331 T T T T D D 1.823 17.900 0.986 D N -0.414 1.353 -0.271 1.626 0.021 0.732 0.744 0.744 0.728 . 5.140 2.680 0.903 1.311 0.754 1.000 1.000 0.987 902 . . . . YTHDC2 139 0 191 34 0.151111111111111 TRUE TRUE ENSG00000164916.11 . BCM GRCh38.p13 chr7 4762217 4762217 + A A - Frame_Shift_Del DEL ENST00000328914.5 exon9 c.1955delA p.A653Rfs*62 exonic ENSG00000164916.11 . frameshift deletion ENSG00000164916.11:ENST00000328914.5:exon9:c.1955delA:p.A653Rfs*62 7p22.1 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXK1 206 0 291 36 0.110091743119266 TRUE TRUE ENSG00000158683.8 . BCM GRCh38.p13 chr7 47929294 47929294 + T T A Missense_Mutation SNP ENST00000289672.6 exon7 c.A970T p.M324L exonic ENSG00000158683.8 . nonsynonymous SNV ENSG00000158683.8:ENST00000289672.6:exon7:c.A970T:p.M324L 7p12.3 C3L-04080 . . . . . . . . rs944419000 0.20 T T B B N N L T N 0.085 T T T 0.029 0.513 0.110 0.086 T T T T T T -1.178 0.003 0.727 N N -1.913 0.014 -1.997 0.014 1.000 0.615 0.541 0.547 0.655 . 3.970 -7.930 -2.692 -0.875 -0.194 0.000 0.000 0.002 830 . . . . PKD1L1 270 0 390 60 0.133333333333333 TRUE NA ENSG00000147586.10 . BCM GRCh38.p13 chr8 80030041 80030041 + G G T Missense_Mutation SNP ENST00000276585.9 exon1 c.C208A p.Q70K exonic ENSG00000147586.10 . nonsynonymous SNV ENSG00000147586.10:ENST00000276585.9:exon1:c.C208A:p.Q70K 8q21.13 C3L-04080 . . . . . . . . . 1.20 T T B B U D N T N 0.282 T T T 0.074 0.160 0.437 0.157 T T T T T T 1.439 15.340 0.947 N N -0.713 0.791 -0.596 1.052 1.000 0.442 0.522 0.504 0.562 . 4.580 2.440 3.010 1.075 0.676 0.968 0.127 0.059 922 . . . . MRPS28 148 0 262 27 0.0934256055363322 TRUE TRUE ENSG00000120526.11 . BCM GRCh38.p13 chr8 109271015 109271015 + G G A Missense_Mutation SNP ENST00000239690.9 exon8 c.C1289T p.T430I exonic ENSG00000120526.11 . nonsynonymous SNV ENSG00000120526.11:ENST00000239690.9:exon8:c.C1289T:p.T430I 8q23.1 C3L-04080 . . . . . . . . . 4.20 T T B B D N N T N 0.093 T T T 0.186 0.342 0.189 0.118 T T T T D T 2.453 22.300 0.799 D D -0.445 1.288 -0.230 1.715 0.990 0.732 0.725 0.710 0.728 . 6.000 5.130 6.100 1.175 0.669 1.000 0.999 0.972 672 . . . . NUDCD1 62 0 81 32 0.283185840707965 TRUE TRUE ENSG00000122696.14 . BCM GRCh38.p13 chr9 37888318 37888318 + C C T Missense_Mutation SNP ENST00000242275.7 exon3 c.G233A p.R78Q exonic ENSG00000122696.14 . nonsynonymous SNV ENSG00000122696.14:ENST00000242275.7:exon3:c.G233A:p.R78Q 9p13.2 C3L-04080 1.647e-05 0 0 0.0001 0 1.498e-05 0 0 rs769274693 5.19 T T B B N D . T N 0.361 T T T 0.516 0.586 0.665 1.174 T T T D T D 2.323 21.700 0.999 D D 0.144 3.065 0.251 3.446 1.000 0.707 0.725 0.609 0.714 . 4.940 4.940 4.670 1.022 0.545 1.000 0.997 0.895 558 . . . ID=COSV54252107;OCCURENCE=1(endometrium) SLC25A51 275 0 304 32 0.0952380952380952 NA TRUE ENSG00000157653.11 . BCM GRCh38.p13 chr9 113424285 113424285 + T T A Missense_Mutation SNP ENST00000288462.4 exon8 c.T776A p.M259K exonic ENSG00000157653.11 . nonsynonymous SNV ENSG00000157653.11:ENST00000288462.4:exon8:c.T776A:p.M259K 9q32 C3L-04080 . . . . . . . . . 11.19 D T D D D D L T D 0.929 T T D 0.321 0.309 0.667 0.587 . T D D D T 3.180 23.800 0.985 D N 0.423 4.488 0.391 4.296 0.966 0.549 0.588 0.547 0.616 . 4.330 4.330 2.952 1.138 0.665 1.000 0.408 0.692 803 . . . . C9orf43 100 0 143 44 0.235294117647059 TRUE TRUE ENSG00000177963.14 . BCM GRCh38.p13 chr11 209587 209587 + G G A Missense_Mutation SNP ENST00000526104.5 exon3 c.G313A p.V105I exonic ENSG00000177963.14 . nonsynonymous SNV ENSG00000177963.14:ENST00000526104.5:exon3:c.G313A:p.V105I 11p15.5 C3L-04080 . . . . . . . . . 0.19 T T B B N N N . N 0.094 T T T 0.022 0.376 0.437 0.208 T T T T T T 0.170 2.786 0.559 N N -1.162 0.255 -1.102 0.374 1.000 0.628 0.522 0.672 0.639 . 4.560 2.570 0.163 -0.102 -0.103 0.000 0.000 0.000 774 . . . . RIC8A 253 0 335 60 0.151898734177215 TRUE TRUE ENSG00000174885.12 . BCM GRCh38.p13 chr11 281835 281835 + G G A Missense_Mutation SNP ENST00000312165.5 exon4 c.G2101A p.G701S exonic ENSG00000174885.12 . nonsynonymous SNV ENSG00000174885.12:ENST00000312165.5:exon4:c.G2101A:p.G701S 11p15.5 C3L-04080 . . . . . . . . . 0.19 T T B B N N . T N 0.151 T T T 0.121 0.421 0.014 . T T T T T T 0.810 9.492 0.314 N N -1.637 0.047 -1.640 0.064 1.000 0.598 0.563 0.578 0.639 . 2.080 -2.010 0.082 -0.154 -0.556 0.493 0.130 0.302 884 . . . . NLRP6 78 0 100 15 0.130434782608696 TRUE NA ENSG00000215182.8 . BCM GRCh38.p13 chr11 1194157 1194157 + A A G Missense_Mutation SNP ENST00000621226.2 exon34 c.A14803G p.T4935A exonic ENSG00000215182.8 . nonsynonymous SNV ENSG00000215182.8:ENST00000621226.2:exon34:c.A14803G:p.T4935A 11p15.5 C3L-04080 . . . . . . . . . 0.5 . T . . . . . . . 0.289 . . . . . 0.370 . . T T T . . 3.208 23.900 0.732 N . . . . . 0.000 0.057 0.061 0.045 0.079 0.186 4.830 2.470 0.362 1.307 0.746 0.000 0.998 0.965 . von_Willebrand_factor,_type_D_domain . . . MUC5AC 358 0 385 86 0.182590233545648 TRUE TRUE ENSG00000254598.3 . BCM GRCh38.p13 chr11 11352117 11352117 + C C T Missense_Mutation SNP ENST00000528848.3 exon1 c.G1003A p.G335S exonic ENSG00000254598.3 . nonsynonymous SNV ENSG00000254598.3:ENST00000528848.3:exon1:c.G1003A:p.G335S 11p15.4 C3L-04080 . . . . . . . . . 0.14 . T B B . N N T . 0.140 . . T . . 0.223 0.130 T T T T . T 1.170 13.400 0.828 N N . . . . 1.000 0.294 0.333 0.284 0.331 . 1.920 0.907 2.204 0.288 0.445 1.000 0.561 0.832 940 . . . . CSNK2A3 553 0 644 117 0.153745072273325 NA TRUE ENSG00000166012.17 . BCM GRCh38.p13 chr11 93738402 93738402 + G G A Missense_Mutation SNP ENST00000448108.7 exon3 c.C166T p.P56S exonic ENSG00000166012.17 . nonsynonymous SNV ENSG00000166012.17:ENST00000448108.7:exon3:c.C166T:p.P56S 11q21 C3L-04080 8.253e-06 0 0 0 0 1.502e-05 0 0 rs764603250 1.18 T T B B N N L . D 0.157 T T T 0.013 0.199 0.168 0.111 T . T T T T 0.738 8.798 0.584 N N -0.689 0.831 -0.811 0.743 1.000 0.722 0.672 0.699 0.658 . 5.360 -0.761 0.562 0.222 0.618 0.008 0.008 0.166 831 . . . . TAF1D 124 0 152 23 0.131428571428571 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3L-04080 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 307 0 412 67 0.139874739039666 TRUE TRUE ENSG00000178498.16 . BCM GRCh38.p13 chr12 57607470 57607470 + G G A Missense_Mutation SNP ENST00000337737.8 exon5 c.G607A p.G203S exonic ENSG00000178498.16 . nonsynonymous SNV ENSG00000178498.16:ENST00000337737.8:exon5:c.G607A:p.G203S 12q13.3 C3L-04080 . . . . . . . . . 2.19 T T B B D D L T N 0.363 T T T 0.061 0.472 0.524 1.543 T T T T T T 2.354 21.900 0.984 N . -0.335 1.529 -0.201 1.784 0.997 0.732 0.644 0.744 0.636 . 4.290 3.330 0.693 1.176 0.676 0.238 0.970 0.978 311 . . . . DTX3 280 0 409 56 0.120430107526882 TRUE NA ENSG00000102699.6 . BCM GRCh38.p13 chr13 24449752 24449752 + A A C Missense_Mutation SNP ENST00000381989.4 exon25 c.T3080G p.F1027C exonic ENSG00000102699.6 . nonsynonymous SNV ENSG00000102699.6:ENST00000381989.4:exon25:c.T3080G:p.F1027C 13q12.12 C3L-04080 . . . . . . . . . 12.20 D D D D D D M T D 0.727 T T T 0.406 0.652 0.634 0.654 T T D T D T 4.178 28.400 0.994 D D 0.723 7.455 0.663 7.114 0.972 0.732 0.725 0.744 0.714 . 4.750 4.750 6.135 1.258 0.587 1.000 0.998 0.963 872 von_Willebrand_factor,_type_A . . ID=COSV67960505;OCCURENCE=1(kidney),1(skin) PARP4 150 0 183 45 0.197368421052632 NA TRUE ENSG00000151849.15 . BCM GRCh38.p13 chr13 24885315 24885315 + G G T Missense_Mutation SNP ENST00000381884.9 exon13 c.C3438A p.D1146E exonic ENSG00000151849.15 . nonsynonymous SNV ENSG00000151849.15:ENST00000381884.9:exon13:c.C3438A:p.D1146E 13q12.12 C3L-04080 . . . . . . . . . 0.20 T T B B N N N T N 0.086 T T T 0.019 0.191 0.174 0.112 T T T T T T -0.312 0.295 0.197 N N -1.608 0.053 -1.519 0.101 0.832 0.732 0.725 0.744 0.728 . 5.100 -2.030 0.159 -1.329 -1.602 0.813 0.001 0.000 895 . . . . CENPJ 333 0 483 74 0.132854578096948 TRUE TRUE ENSG00000136167.14 . BCM GRCh38.p13 chr13 46158909 46158909 + T T C Missense_Mutation SNP ENST00000323076.7 exon3 c.A145G p.R49G exonic ENSG00000136167.14 . nonsynonymous SNV ENSG00000136167.14:ENST00000323076.7:exon3:c.A145G:p.R49G 13q14.13 C3L-04080 . . . . . . . . . 10.20 D D B B D N L T D 0.345 T T D 0.289 0.460 0.634 0.465 T D T T D D 2.639 22.700 0.990 D D -0.233 1.786 -0.194 1.800 1.000 0.672 0.702 0.602 0.530 . 5.760 -0.102 1.486 0.142 0.665 0.783 0.962 0.931 868 EF-hand_domain . . ID=COSV59939986;OCCURENCE=1(large_intestine) LCP1 297 1 374 75 0.167037861915367 TRUE TRUE ENSG00000178115.11 . BCM GRCh38.p13 chr15 30557812 30557812 + C C T Missense_Mutation SNP ENST00000562783.1 exon9 c.C653T p.A218V exonic ENSG00000178115.11 . nonsynonymous SNV ENSG00000178115.11:ENST00000562783.1:exon9:c.C653T:p.A218V 15q13.2 C3L-04080 . . . . . . . . . 1.10 D T . . . . . T N 0.068 . . T . . 0.081 0.480 . . T T . T 1.673 16.850 0.996 N N . . . . 0.000 0.554 0.588 0.618 0.621 . 0.770 0.770 0.350 -0.150 0.255 0.005 0.002 0.010 976 . . . . GOLGA8Q 510 0 584 38 0.0610932475884244 NA TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674290 7674299 + CCTAGGAGAT CCTAGGAGAT - Frame_Shift_Del DEL ENST00000269305.8 exon7 c.673delG p.V225Lfs*22 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon7:c.673delG:p.V225Lfs*22 17p13.1 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 474 0 442 63 0.124752475247525 TRUE TRUE ENSG00000154975.14 . BCM GRCh38.p13 chr17 52072333 52072333 + C C A Missense_Mutation SNP ENST00000451037.7 exon2 c.G122T p.G41V exonic ENSG00000154975.14 . nonsynonymous SNV ENSG00000154975.14:ENST00000451037.7:exon2:c.G122T:p.G41V 17q21.33 C3L-04080 . . . . . . . . . 16.20 D D D D D D M T D 0.915 T T D 0.437 . 0.814 1.346 D T D D D D 4.770 33 0.998 D D 0.795 8.684 0.821 10.759 1.000 0.554 0.574 0.618 0.564 . 6.170 6.170 7.158 1.026 0.599 1.000 1.000 0.998 903 Alpha_carbonic_anhydrase_domain . . ID=COSV53360365;OCCURENCE=1(endometrium) CA10 281 0 333 77 0.18780487804878 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51047216 51047216 + T T C Missense_Mutation SNP ENST00000342988.8 exon2 c.T170C p.L57S exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon2:c.T170C:p.L57S 18q21.2 C3L-04080 . . . . . . . . . 20.20 D D D D D D H D D 0.989 D D D 0.957 0.811 0.983 3.328 D D D D D D 4.102 27.800 0.999 D D 0.978 13.234 0.913 14.306 1.000 0.706 0.725 0.710 0.613 . 5.860 5.860 8.017 1.124 0.665 1.000 1.000 0.991 672 MAD_homology_1,_Dwarfin-type;MAD_homology,_MH1 . . ID=COSV61684770;OCCURENCE=2(pancreas) SMAD4 205 0 208 44 0.174603174603175 TRUE TRUE ENSG00000089820.16 . BCM GRCh38.p13 chrX 153919238 153919238 + G G A Missense_Mutation SNP ENST00000350060.10 exon6 c.C727T p.R243C exonic ENSG00000089820.16 . nonsynonymous SNV ENSG00000089820.16:ENST00000350060.10:exon6:c.C727T:p.R243C Xq28 C3L-04080 . . . . . . . . . 11.19 D D D P N D M T D 0.583 T T D 0.254 0.716 0.716 1.551 T D T T D D 3.210 23.900 0.999 D . . . . . 1.000 . . . . . 4.670 3.760 1.577 1.157 0.654 0.971 0.417 0.624 180 F-BAR_domain . . . ARHGAP4 230 1 226 76 0.251655629139073 TRUE TRUE ENSG00000158008.10 . BCM GRCh38.p13 chr1 26023264 26023264 + G G A Silent SNP ENST00000374280.4 exon1 c.G618A p.P206P exonic ENSG00000158008.10 . synonymous SNV ENSG00000158008.10:ENST00000374280.4:exon1:c.G618A:p.P206P 1p36.11 C3L-04080 9.742e-06 0 9.211e-05 0 0 0 0 0 rs768099208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65338459;OCCURENCE=1(large_intestine),1(endometrium) EXTL1 51 0 85 26 0.234234234234234 TRUE TRUE ENSG00000032389.12 . BCM GRCh38.p13 chr2 3194076 3194076 + T T C Silent SNP ENST00000382125.8 exon7 c.A744G p.G248G exonic ENSG00000032389.12 . synonymous SNV ENSG00000032389.12:ENST00000382125.8:exon7:c.A744G:p.G248G 2p25.3 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EIPR1 324 0 339 81 0.192857142857143 TRUE TRUE ENSG00000244607.7 . BCM GRCh38.p13 chr3 42752710 42752710 + G G A Silent SNP ENST00000310232.11 exon4 c.C378T p.A126A exonic ENSG00000244607.7;ENSG00000280571.2 . synonymous SNV ENSG00000244607.7:ENST00000310232.11:exon4:c.C378T:p.A126A,ENSG00000280571.2:ENST00000648550.1:exon5:c.C447T:p.A149A 3p22.1 C3L-04080 1.649e-05 0 0 0 0 1.5e-05 0 6.06e-05 rs141032680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC13 134 0 211 39 0.156 TRUE NA ENSG00000138778.13 . BCM GRCh38.p13 chr4 103158638 103158638 + A A G Silent SNP ENST00000265148.9 exon23 c.T2850C p.S950S exonic ENSG00000138778.13 . synonymous SNV ENSG00000138778.13:ENST00000265148.9:exon23:c.T2850C:p.S950S 4q24 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CENPE 98 1 108 6 0.0526315789473684 NA TRUE ENSG00000019995.6 . BCM GRCh38.p13 chr10 124983682 124983682 + T T A Silent SNP ENST00000359653.4 exon8 c.T1902A p.A634A exonic ENSG00000019995.6 . synonymous SNV ENSG00000019995.6:ENST00000359653.4:exon8:c.T1902A:p.A634A 10q26.13 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZRANB1 107 0 165 14 0.0782122905027933 TRUE TRUE ENSG00000108001.14 . BCM GRCh38.p13 chr10 129840887 129840887 + C C T Silent SNP ENST00000355311.10 exon14 c.G1518A p.S506S exonic ENSG00000108001.14 . synonymous SNV ENSG00000108001.14:ENST00000355311.10:exon14:c.G1518A:p.S506S 10q26.3 C3L-04080 0.0002 0 0 0 0.0011 0.0002 0 0.0001 rs372476626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62473166;OCCURENCE=1(large_intestine),1(stomach),1(endometrium) EBF3 121 0 151 37 0.196808510638298 TRUE TRUE ENSG00000158270.12 . BCM GRCh38.p13 chr18 480723 480723 + G G A Silent SNP ENST00000400256.5 exon2 c.C42T p.F14F exonic ENSG00000158270.12 . synonymous SNV ENSG00000158270.12:ENST00000400256.5:exon2:c.C42T:p.F14F 18p11.32 C3L-04080 8.237e-06 0 0 0 0 1.498e-05 0 0 rs778096255 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68375160;OCCURENCE=1(biliary_tract),1(upper_aerodigestive_tract) COLEC12 383 0 485 62 0.113345521023766 TRUE TRUE ENSG00000101052.13 . BCM GRCh38.p13 chr20 43603768 43603768 + C C T Silent SNP ENST00000373030.8 exon4 c.C216T p.I72I exonic ENSG00000101052.13 . synonymous SNV ENSG00000101052.13:ENST00000373030.8:exon4:c.C216T:p.I72I 20q13.12 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFT52 160 0 248 33 0.117437722419929 TRUE TRUE ENSG00000142961.14 . BCM GRCh38.p13 chr1 46613356 46613356 + C C - 5'UTR SNP NA NA NA NA UTR5 ENSG00000142961.14 ENST00000371940.1:c.-35delG . . 1p33 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MOB3C 87 0 81 23 0.221153846153846 TRUE TRUE ENSG00000203761.5 . BCM GRCh38.p13 chr1 155747925 155747925 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000203761.5 . . . 1q22 C3L-04080 1.786e-05 9.968e-05 0 0 0 1.558e-05 0 0 rs755983569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MSTO2P 32 0 67 7 0.0945945945945946 TRUE NA ENSG00000254106.1 . BCM GRCh38.p13 chr5 109884463 109884463 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254106.1 . . . 5q21.3 C3L-04080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01848 317 0 381 66 0.147651006711409 TRUE NA ENSG00000127334.11 . BCM GRCh38.p13 chr12 67651533 67651533 + A A C Intron SNP NA NA NA NA intronic ENSG00000127334.11 . . . 12q15 C3L-04080 . . . . . . . . . 1.13 D . . . . N . T N . T T . 0.011 0.261 0.238 . . T T T T T 0.441 5.871 0.359 N N -1.189 0.235 -1.413 0.145 1.000 0.455 0.374 0.607 0.550 . 4.170 -6.380 0.155 -0.779 -0.683 0.000 0.000 0.000 569 . . . . DYRK2 152 0 228 46 0.167883211678832 TRUE TRUE ENSG00000142675.18 . BCM GRCh38.p13 chr1 26184135 26184149 + CTCCCAGGTAACAGG CTCCCAGGTAACAGG - Frame_Shift_Del DEL ENST00000374253.9 exon10 c.941_947del p.S314Wfs*49 exonic ENSG00000142675.18 . frameshift deletion ENSG00000142675.18:ENST00000374253.9:exon10:c.941_947del:p.S314Wfs*49 1p36.11 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNKSR1 393 1 423 53 0.111344537815126 TRUE TRUE ENSG00000198216.12 . BCM GRCh38.p13 chr1 181755330 181755330 + G G A Missense_Mutation SNP ENST00000367573.7 exon28 c.G3922A p.V1308I exonic ENSG00000198216.12 . nonsynonymous SNV ENSG00000198216.12:ENST00000367573.7:exon28:c.G3922A:p.V1308I 1q25.3 C3N-03853 . . . . . . . . . 18.20 D D D D D D M D N 0.625 D D D 0.867 0.608 0.935 1.338 T D D D D D 3.799 25.800 0.999 D D 0.933 11.934 0.892 13.416 1.000 0.707 0.725 0.574 0.564 . 5.290 5.290 9.818 1.176 0.674 1.000 0.996 0.989 692 Ion_transport_domain . . . CACNA1E 220 0 294 49 0.142857142857143 TRUE TRUE ENSG00000162687.18 . BCM GRCh38.p13 chr1 196331196 196331196 + A A T Missense_Mutation SNP ENST00000294725.13 exon18 c.T2063A p.L688H exonic ENSG00000162687.18 . nonsynonymous SNV ENSG00000162687.18:ENST00000294725.13:exon18:c.T2063A:p.L688H 1q31.3 C3N-03853 . . . . . . . . . 19.20 D D D D D D M D D 0.933 D D D 0.875 0.575 0.859 1.351 D T D D D D 4.070 27.500 0.985 D D 0.849 9.811 0.800 10.125 1.000 0.615 0.574 0.659 0.621 . 5.260 5.260 9.325 1.312 0.691 1.000 0.998 0.996 528 . . . . KCNT2 219 0 286 34 0.10625 TRUE TRUE ENSG00000135976.20 . BCM GRCh38.p13 chr2 97152534 97152534 + G G A Missense_Mutation SNP ENST00000420699.9 exon14 c.G1193A p.R398K exonic ENSG00000135976.20 . nonsynonymous SNV ENSG00000135976.20:ENST00000420699.9:exon14:c.G1193A:p.R398K 2q11.2 C3N-03853 . . . . . . . . . 2.19 D T B B . D N T N 0.201 T T T 0.042 0.594 0.040 . T T T T T T 3.310 24.100 0.276 N N -1.116 0.293 -1.180 0.300 0.000 0.554 0.588 0.618 0.636 . 1.340 1.340 0.339 0.407 0.563 0.015 0.008 0.010 229 . . . . ANKRD36 120 0 114 27 0.191489361702128 NA TRUE ENSG00000075568.17 . BCM GRCh38.p13 chr2 97796361 97796361 + A A - Frame_Shift_Del DEL ENST00000186436.10 exon28 c.3057delT p.F1019Lfs*3 exonic ENSG00000075568.17 . frameshift deletion ENSG00000075568.17:ENST00000186436.10:exon28:c.3057delT:p.F1019Lfs*3 2q11.2 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM131 111 0 209 32 0.132780082987552 TRUE TRUE ENSG00000125618.17 . BCM GRCh38.p13 chr2 113241718 113241718 + C C T Missense_Mutation SNP ENST00000429538.8 exon7 c.G610A p.D204N exonic ENSG00000125618.17 . nonsynonymous SNV ENSG00000125618.17:ENST00000429538.8:exon7:c.G610A:p.D204N 2q14.1 C3N-03853 . . . . . . . . rs868276472 11.20 D T P B D D L D N 0.299 D D D 0.492 0.260 0.893 0.047 T T T T D D 2.427 22.200 0.998 D D 0.255 3.557 0.344 3.985 1.000 0.515 0.551 0.604 0.635 . 4.690 4.690 6.721 1.026 0.599 1.000 1.000 0.799 623 . . . . PAX8 718 0 962 63 0.0614634146341463 TRUE NA ENSG00000183960.9 . BCM GRCh38.p13 chr3 19533635 19533635 + A A G Missense_Mutation SNP ENST00000328405.7 exon16 c.A2860G p.I954V exonic ENSG00000183960.9 . nonsynonymous SNV ENSG00000183960.9:ENST00000328405.7:exon16:c.A2860G:p.I954V 3p24.3 C3N-03853 . . . . . . . . . 4.20 T T B B N N N D N 0.021 D D D 0.241 0.304 0.625 0.020 T T T T T T 0.074 1.871 0.280 N N -0.953 0.457 -0.810 0.744 0.000 0.638 0.588 0.653 0.564 . 5.360 2.000 0.487 0.046 0.756 0.001 0.601 0.905 693 . . . . KCNH8 404 0 479 82 0.146167557932264 TRUE TRUE ENSG00000169379.16 . BCM GRCh38.p13 chr3 94043047 94043047 + C C A Missense_Mutation SNP ENST00000394222.8 exon7 c.C831A p.N277K exonic ENSG00000169379.16 . nonsynonymous SNV ENSG00000169379.16:ENST00000394222.8:exon7:c.C831A:p.N277K 3q11.2 C3N-03853 0.0014 0.0019 0.0007 0.0021 0.0005 0.0009 0 0.0039 rs139997243 1.20 T T B B N D N T N 0.100 T T T 0.045 . 0.323 0.084 T T T T T T 0.586 7.377 0.532 N N -1.158 0.258 -0.929 0.581 0.000 0.615 0.588 0.659 0.655 . 5.200 2.440 0.227 -0.131 -0.107 0.997 0.044 0.169 631 . . . ID=COSV57397738;OCCURENCE=2(oesophagus),3(central_nervous_system),1(pancreas),1(skin),1(prostate),1(endometrium) ARL13B 141 0 181 31 0.14622641509434 TRUE TRUE ENSG00000113389.16 . BCM GRCh38.p13 chr5 32712329 32712329 + G G C Missense_Mutation SNP ENST00000265074.13 exon1 c.G553C p.G185R exonic ENSG00000113389.16 . nonsynonymous SNV ENSG00000113389.16:ENST00000265074.13:exon1:c.G553C:p.G185R 5p13.3 C3N-03853 . . . . . . . . . 19.20 D D D D D D M D D 0.800 D D D 0.844 0.879 0.946 . T D D D D D 4.564 32 0.998 D D 0.518 5.176 0.462 4.831 1.000 0.549 0.627 0.607 0.527 . 4.890 4.020 7.926 1.172 0.672 1.000 1.000 0.999 844 Receptor,_ligand_binding_region . . . NPR3 174 0 351 35 0.0906735751295337 TRUE TRUE ENSG00000079215.14 . BCM GRCh38.p13 chr5 36686069 36686069 + C C T Missense_Mutation SNP ENST00000265113.9 exon10 c.C1429T p.R477C exonic ENSG00000079215.14 . nonsynonymous SNV ENSG00000079215.14:ENST00000265113.9:exon10:c.C1429T:p.R477C 5p13.2 C3N-03853 8.246e-06 0 0 0 0 0 0 6.058e-05 rs766340486 19.20 D D D D D D H T D 0.845 D D D 0.806 0.683 0.894 1.483 D D D D D D 4.584 32 0.999 D D 1.025 14.741 0.951 16.112 1.000 0.707 0.618 0.725 0.542 . 5.620 5.620 7.834 1.026 0.599 1.000 0.998 0.945 697 . . . ID=COSV54314181;OCCURENCE=1(large_intestine),2(NS),2(skin) SLC1A3 540 1 1003 116 0.103663985701519 TRUE TRUE ENSG00000086570.12 . BCM GRCh38.p13 chr5 151531799 151531799 + G G A Missense_Mutation SNP ENST00000261800.5 exon13 c.C9599T p.T3200M exonic ENSG00000086570.12 . nonsynonymous SNV ENSG00000086570.12:ENST00000261800.5:exon13:c.C9599T:p.T3200M 5q33.1 C3N-03853 . . . . . . . . . 12.20 D D D D N D M T D 0.455 T T D 0.357 0.593 0.868 0.549 T T T T D D 3.836 26.000 0.998 D D 0.691 6.998 0.580 5.982 1.000 0.497 0.590 0.547 0.542 . 5.340 5.340 9.810 1.176 0.676 1.000 0.922 0.567 898 Cadherin-like . . ID=COSV55822841;OCCURENCE=1(upper_aerodigestive_tract) FAT2 614 0 727 163 0.18314606741573 TRUE TRUE ENSG00000155511.18 . BCM GRCh38.p13 chr5 153811148 153811148 + G G A Missense_Mutation SNP ENST00000285900.10 exon16 c.G2644A p.D882N exonic ENSG00000155511.18 . nonsynonymous SNV ENSG00000155511.18:ENST00000285900.10:exon16:c.G2644A:p.D882N 5q33.2 C3N-03853 . . . . . . . . . 9.20 D D D P D D L T N 0.653 T T T 0.140 0.171 0.806 1.918 T T T T D D 3.651 25.200 0.999 D D 0.674 6.771 0.691 7.587 1.000 0.554 0.574 0.618 0.564 . 5.030 5.030 9.367 1.174 0.676 1.000 0.993 0.994 792 . . . . GRIA1 552 0 696 144 0.171428571428571 TRUE TRUE ENSG00000184347.15 . BCM GRCh38.p13 chr5 168724432 168724432 + G G A Nonsense_Mutation SNP ENST00000519560.6 exon21 c.C2323T p.R775X exonic ENSG00000184347.15 . stopgain ENSG00000184347.15:ENST00000519560.6:exon21:c.C2323T:p.R775X 5q34 C3N-03853 8.389e-06 0 8.749e-05 0 0 0 0 0 rs767878241 5.6 . . . . D A . . . 0.962 . . . . . . . . . D D . . 8.506 43 0.998 D N 0.716 7.346 0.543 5.570 0.001 0.615 0.574 0.659 0.621 . 4.870 2.840 3.986 1.166 0.663 1.000 0.992 0.981 920 . . . . SLIT3 153 0 229 33 0.125954198473282 TRUE NA ENSG00000184347.15 . BCM GRCh38.p13 chr5 168806453 168806453 + C C T Missense_Mutation SNP ENST00000519560.6 exon9 c.G928A p.V310I exonic ENSG00000184347.15 . nonsynonymous SNV ENSG00000184347.15:ENST00000519560.6:exon9:c.G928A:p.V310I 5q34 C3N-03853 4.121e-05 9.612e-05 8.637e-05 0 0 4.499e-05 0 0 rs184054777 2.20 T D B B N D N T N 0.049 T T T 0.050 . 0.217 0.256 T T T T T T 1.156 13.270 0.996 N N -0.446 1.285 -0.307 1.550 0.959 0.554 0.563 0.618 0.621 . 5.520 4.650 0.564 0.128 0.599 0.279 0.951 0.956 937 Leucine-rich_repeat_N-terminal_domain . . ID=COSV100270139;OCCURENCE=1(stomach) SLIT3 110 0 145 51 0.260204081632653 TRUE NA ENSG00000197283.17 . BCM GRCh38.p13 chr6 33443736 33443736 + G G A Missense_Mutation SNP ENST00000646630.1 exon15 c.G3184A p.G1062R exonic ENSG00000197283.17 . nonsynonymous SNV ENSG00000197283.17:ENST00000646630.1:exon15:c.G3184A:p.G1062R 6p21.32 C3N-03853 . . . . . . . . . 4.20 T T P B N D L D N 0.510 T T D 0.403 0.313 0.513 1.827 T T T T T T 2.285 21.500 0.960 D N -0.130 2.081 -0.007 2.336 1.000 0.672 0.602 0.702 0.528 . 4.090 4.090 1.614 1.171 0.612 0.962 0.998 0.933 490 Domain_of_unknown_function_DUF3498 . . . SYNGAP1 98 0 119 24 0.167832167832168 TRUE NA ENSG00000136279.20 . BCM GRCh38.p13 chr7 44059554 44059554 + G G C Missense_Mutation SNP ENST00000448521.5 exon11 c.G943C p.E315Q exonic ENSG00000136279.20 . nonsynonymous SNV ENSG00000136279.20:ENST00000448521.5:exon11:c.G943C:p.E315Q 7p13 C3N-03853 . . . . . . . . . 1.20 T T B B N N M T N 0.124 T T T 0.061 0.222 0.667 0.105 T T T T T T 1.218 13.780 0.892 N N -0.254 1.730 -0.310 1.544 1.000 0.722 0.699 0.725 0.714 . 5.620 3.680 0.110 1.176 0.676 0.000 0.007 0.162 693 . . . . DBNL 209 0 290 68 0.189944134078212 TRUE TRUE ENSG00000013374.16 . BCM GRCh38.p13 chr7 151356192 151356195 + ATCA ATCA - Frame_Shift_Del DEL ENST00000470229.6 exon7 c.663_666del p.I223Efs*12 exonic ENSG00000013374.16 . frameshift deletion ENSG00000013374.16:ENST00000470229.6:exon7:c.663_666del:p.I223Efs*12 7q36.1 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUB1 353 0 547 73 0.117741935483871 TRUE TRUE ENSG00000147573.17 . BCM GRCh38.p13 chr8 66128358 66128358 + C C T Nonsense_Mutation SNP ENST00000315962.9 exon2 c.C223T p.R75X exonic ENSG00000147573.17 . stopgain ENSG00000147573.17:ENST00000315962.9:exon2:c.C223T:p.R75X 8q13.1 C3N-03853 8.247e-06 0 0 0 0.0002 0 0 0 rs750201649 5.6 . . . . D A . . . 0.526 . . . . . . . . . D D . . 6.974 36 0.998 D N 0.750 7.883 0.624 6.538 1.000 0.447 0.547 0.573 0.530 . 5.810 4.910 3.292 1.026 0.597 1.000 1.000 0.997 910 Zinc_finger,_RING-type;RING-type_zinc-finger,_LisH_dimerisation_motif . . ID=COSV52545400;OCCURENCE=1(breast) TRIM55 104 0 139 28 0.167664670658683 TRUE TRUE ENSG00000174429.4 . BCM GRCh38.p13 chr8 106769954 106769954 + - NA G Frame_Shift_Ins NA ENST00000311955.4 exon1 c.236dupC p.S81Vfs*20 exonic ENSG00000174429.4 . frameshift insertion ENSG00000174429.4:ENST00000311955.4:exon1:c.236dupC:p.S81Vfs*20 8q23.1 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABRA NA NA NA NA NA NA NA ENSG00000153707.17 . BCM GRCh38.p13 chr9 8518378 8518378 + C C A Missense_Mutation SNP ENST00000381196.8 exon18 c.G1013T p.S338I exonic ENSG00000153707.17 . nonsynonymous SNV ENSG00000153707.17:ENST00000381196.8:exon18:c.G1013T:p.S338I 9p24.1 C3N-03853 . . . . . . . . . 17.19 D D D D D D H T D 0.933 D D D 0.609 0.618 0.595 . D T D D D . 3.859 26.100 0.997 D D 0.846 9.747 0.779 9.527 1.000 0.706 0.574 0.710 0.564 . 5.190 5.190 7.905 1.026 0.549 1.000 1.000 0.997 625 Fibronectin_type_III . . . PTPRD 141 0 127 37 0.225609756097561 TRUE TRUE ENSG00000165238.16 . BCM GRCh38.p13 chr9 93308378 93308378 + G G A Missense_Mutation SNP ENST00000297954.8 exon28 c.G6421A p.A2141T exonic ENSG00000165238.16 . nonsynonymous SNV ENSG00000165238.16:ENST00000297954.8:exon28:c.G6421A:p.A2141T 9q22.31 C3N-03853 0 0 0 0 0 0 0 0 rs537020225 0.20 T T P B N N N T N 0.113 T T T 0.112 0.082 0.139 0.134 T T T T T T 0.239 3.570 0.620 N N -1.059 0.345 -1.129 0.347 0.967 0.696 0.590 0.723 0.542 . 4.920 -4.300 0.085 -1.161 -0.794 0.002 0.940 0.952 908 . . . . WNK2 224 0 221 53 0.193430656934307 TRUE NA ENSG00000171501.10 . BCM GRCh38.p13 chr9 122553904 122553904 + C C G Missense_Mutation SNP ENST00000373688.3 exon1 c.C693G p.I231M exonic ENSG00000171501.10 . nonsynonymous SNV ENSG00000171501.10:ENST00000373688.3:exon1:c.C693G:p.I231M 9q33.2 C3N-03853 . . . . . . . . . 2.19 D . P P N N L T D . T T T 0.057 0.425 0.451 0.141 T T T T T T 1.044 12.170 0.992 N N -0.464 1.249 -0.557 1.111 0.017 0.487 0.574 0.574 0.542 . 4.560 1.480 -2.507 0.907 0.572 0.000 0.017 0.014 905 GPCR,_rhodopsin-like,_7TM . . . OR1N2 404 1 377 58 0.133333333333333 TRUE TRUE ENSG00000203772.7 . BCM GRCh38.p13 chr10 133423291 133423291 + G G A Missense_Mutation SNP ENST00000414069.2 exon2 c.C391T p.R131C exonic ENSG00000203772.7 . nonsynonymous SNV ENSG00000203772.7:ENST00000414069.2:exon2:c.C391T:p.R131C 10q26.3 C3N-03853 . . . . . . . . . 1.19 T T B B . N N T N 0.105 T T D 0.023 0.341 0.030 . T T T T T T 0.695 8.412 0.989 N N -1.520 0.075 -1.550 0.090 0.999 0.598 0.551 0.608 0.639 . 3.900 -1.750 -1.121 -0.352 -0.198 0.000 0.000 0.000 . . . . . SPRN 237 0 311 53 0.145604395604396 TRUE NA ENSG00000070047.13 . BCM GRCh38.p13 chr11 597467 597467 + G G A Missense_Mutation SNP ENST00000264555.10 exon8 c.G791A p.R264Q exonic ENSG00000070047.13 . nonsynonymous SNV ENSG00000070047.13:ENST00000264555.10:exon8:c.G791A:p.R264Q 11p15.5 C3N-03853 9.167e-06 0 0 0 0 1.633e-05 0 0 rs749964878 9.20 D T P B N D L D D 0.278 T T D 0.323 0.320 0.215 0.111 T T T T D D 2.987 23.400 0.999 D D 0.047 2.683 0.060 2.577 0.994 0.713 0.702 0.780 0.692 . 4.230 3.320 3.804 1.168 0.667 1.000 0.983 0.837 923 . . . . PHRF1 452 0 417 86 0.170974155069582 TRUE NA ENSG00000073921.18 . BCM GRCh38.p13 chr11 86031510 86031510 + A A G Missense_Mutation SNP ENST00000393346.8 exon2 c.T232C p.S78P exonic ENSG00000073921.18 . nonsynonymous SNV ENSG00000073921.18:ENST00000393346.8:exon2:c.T232C:p.S78P 11q14.2 C3N-03853 . . . . . . . . . 17.20 D D D D D D M T D 0.866 T T D 0.326 0.774 0.730 1.388 D D D D D D 3.992 26.900 0.999 D D 0.571 5.640 0.578 5.954 1.000 0.706 0.725 0.710 0.646 . 5.520 5.520 2.766 1.312 0.756 1.000 1.000 0.998 651 ENTH__domain;AP180_N-terminal_homology_(ANTH)_domain . . . PICALM 175 0 202 57 0.22007722007722 TRUE TRUE ENSG00000047617.15 . BCM GRCh38.p13 chr12 5565583 5565583 + C C T Missense_Mutation SNP ENST00000650848.1 exon26 c.G2717A p.R906H exonic ENSG00000047617.15 . nonsynonymous SNV ENSG00000047617.15:ENST00000650848.1:exon26:c.G2717A:p.R906H 12p13.31 C3N-03853 5.11e-05 0 0 0 0 9.401e-05 0 0 rs192113570 15.17 D D . . D D . T D 0.906 D D D 0.727 . 0.664 0.412 T D D D D D 4.133 28.000 1.000 D D 0.924 11.684 0.833 11.174 1.000 0.563 0.590 0.602 0.636 . 4.950 4.950 5.864 1.026 0.599 1.000 0.994 0.852 934 . . . ID=COSV59020943;OCCURENCE=1(liver),1(large_intestine),1(NS),1(haematopoietic_and_lymphoid_tissue),1(endometrium) ANO2 287 0 477 72 0.131147540983607 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245347 25245347 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G38A p.G13D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G38A:p.G13D 12p12.1 C3N-03853 . . . . . . . . rs112445441 18.20 D D P P D D M D D 0.977 D D D 0.832 0.722 0.974 2.437 D D D D D D 3.167 23.800 0.998 D D 0.646 6.423 0.688 7.529 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 0.999 707 Small_GTP-binding_protein_domain . . ID=COSV55497388;OCCURENCE=1(salivary_gland),20(breast),5(liver),16(peritoneum),9(oesophagus),2(genital_tract),17(cervix),4810(large_intestine),1(central_nervous_system),40(biliary_tract),2(pleura),43(ovary),1(bone),7(NS),85(stomach),256(haematopoietic_and_lymphoid_tissue),5(kidney),35(soft_tissue),12(urinary_tract),71(pancreas),23(gastrointestinal_tract_(site_indeterminate)),12(skin),23(prostate),212(lung),24(thyroid),10(upper_aerodigestive_tract),2(thymus),41(small_intestine),81(endometrium) KRAS 294 0 407 65 0.13771186440678 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675085 7675085 + C C T Missense_Mutation SNP ENST00000269305.8 exon5 c.G527A p.C176Y exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.G527A:p.C176Y 17p13.1 C3N-03853 . . . . . . . . rs786202962 20.20 D D D D D D M D D 0.977 D D D 0.949 0.961 0.986 2.143 D D D D D D 4.061 27.400 0.997 D D 0.857 10.008 0.769 9.258 1.000 0.722 0.698 0.698 0.735 . 5.590 4.610 7.905 1.026 0.599 1.000 0.999 0.932 434 p53,_DNA-binding_domain . . ID=COSV52660760;OCCURENCE=1(salivary_gland),8(breast),9(liver),16(oesophagus),29(large_intestine),8(central_nervous_system),3(biliary_tract),7(ovary),2(bone),1(NS),19(haematopoietic_and_lymphoid_tissue),5(stomach),1(urinary_tract),3(pancreas),2(skin),15(lung),9(upper_aerodigestive_tract),1(thymus),5(endometrium) TP53 423 0 378 120 0.240963855421687 TRUE TRUE ENSG00000182271.13 . BCM GRCh38.p13 chr17 30329277 30329277 + G G A Missense_Mutation SNP ENST00000328886.5 exon3 c.C335T p.S112F exonic ENSG00000182271.13 . nonsynonymous SNV ENSG00000182271.13:ENST00000328886.5:exon3:c.C335T:p.S112F 17q11.2 C3N-03853 . . . . . . . . . 3.20 T D B B N N L T D 0.309 T T T 0.098 0.643 0.345 0.056 T T T T D T 2.302 21.600 0.946 N N -0.370 1.450 -0.331 1.501 0.026 0.447 0.547 0.547 0.530 . 5.480 2.250 2.507 1.166 0.606 0.767 0.550 0.585 546 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TMIGD1 77 0 99 22 0.181818181818182 TRUE TRUE ENSG00000188878.19 . BCM GRCh38.p13 chr17 75914878 75914878 + G G A Missense_Mutation SNP ENST00000586717.5 exon24 c.C2641T p.R881W exonic ENSG00000188878.19 . nonsynonymous SNV ENSG00000188878.19:ENST00000586717.5:exon24:c.C2641T:p.R881W 17q25.1 C3N-03853 . . . . . . . . rs1025965803 10.17 . D D D . D M T . 0.648 T T D 0.301 0.264 0.509 . T T T T D D 4.268 29.300 0.999 D D 0.750 7.873 0.715 8.041 1.000 0.646 0.670 0.645 0.568 . 5.340 5.340 3.586 1.176 0.676 1.000 1.000 0.983 828 . . . . FBF1 255 0 318 47 0.128767123287671 TRUE NA ENSG00000141434.12 . BCM GRCh38.p13 chr18 32210524 32210524 + G G A Missense_Mutation SNP ENST00000269202.11 exon10 c.G943A p.D315N exonic ENSG00000141434.12 . nonsynonymous SNV ENSG00000141434.12:ENST00000269202.11:exon10:c.G943A:p.D315N 18q12.1 C3N-03853 2.517e-05 0 0 0.0004 0 0 0 0 rs757121510 0.20 T T B B N N N T N 0.084 T T T 0.124 0.673 0.211 0.104 T T T T T T -0.556 0.090 0.657 N N -1.675 0.040 -1.672 0.057 0.001 0.487 0.574 0.574 0.564 . 5.570 -6.250 0.185 -1.014 -0.176 0.003 0.000 0.020 824 MAM_domain . . ID=COSV52496715;OCCURENCE=1(skin),2(endometrium) MEP1B 187 0 230 365 0.613445378151261 TRUE TRUE ENSG00000186994.11 . BCM GRCh38.p13 chr19 8333122 8333122 + C C A Nonsense_Mutation SNP ENST00000593649.5 exon7 c.G1828T p.E610X exonic ENSG00000186994.11 . stopgain ENSG00000186994.11:ENST00000593649.5:exon7:c.G1828T:p.E610X 19p13.2 C3N-03853 . . . . . . . . . 3.5 . . . . . A . . . 0.195 . . . . . . . . . D D . . 6.956 36 0.997 N N 0.389 4.275 0.126 2.843 0.776 0.672 0.627 0.641 0.711 . 4.790 2.530 2.044 1.014 0.585 0.560 0.041 0.286 934 Ankyrin_repeat-containing_domain . . . KANK3 614 0 754 128 0.145124716553288 TRUE TRUE ENSG00000197054.12 . BCM GRCh38.p13 chr19 11978720 11978720 + C C G Missense_Mutation SNP ENST00000358987.8 exon4 c.C796G p.H266D exonic ENSG00000197054.12;ENSG00000267179.1 . nonsynonymous SNV ENSG00000197054.12:ENST00000358987.8:exon4:c.C796G:p.H266D,ENSG00000267179.1:ENST00000590798.1:exon4:c.C856G:p.H286D 19p13.2 C3N-03853 . . . . . . . . . 1.18 T T P P . N N T D 0.147 T T T 0.023 0.293 0.055 0.009 . T T T T T -1.478 0.001 0.764 N N -1.099 0.308 -1.274 0.226 0.000 0.554 0.588 0.602 0.621 . 1.400 0.169 -4.274 -3.794 -5.007 0.000 0.000 0.000 934 Zinc_finger_C2H2-type . . . ZNF763 259 0 346 60 0.147783251231527 TRUE TRUE ENSG00000196218.13 . BCM GRCh38.p13 chr19 38517565 38517565 + G G A Missense_Mutation SNP ENST00000359596.8 exon66 c.G9892A p.A3298T exonic ENSG00000196218.13 . nonsynonymous SNV ENSG00000196218.13:ENST00000359596.8:exon66:c.G9892A:p.A3298T 19q13.2 C3N-03853 0.0001 0 0 0 0 1.527e-05 0 0.0007 rs544339193 5.19 T . B B U N N D N 0.331 D D D 0.271 . 0.928 0.310 T T T T T T 1.123 12.990 0.770 D N -0.404 1.374 -0.397 1.378 0.002 0.646 0.547 0.645 0.563 . 3.600 2.390 2.957 0.211 0.595 0.558 0.026 0.029 725 . . . ID=COSV62092810;OCCURENCE=1(large_intestine),2(NS) RYR1 426 0 544 110 0.168195718654434 TRUE TRUE ENSG00000186026.7 . BCM GRCh38.p13 chr19 44086022 44086022 + A A T Nonsense_Mutation SNP ENST00000421176.4 exon5 c.A544T p.K182X exonic ENSG00000186026.7 . stopgain ENSG00000186026.7:ENST00000421176.4:exon5:c.A544T:p.K182X 19q13.31 C3N-03853 . . . . . . . . rs868833403 4.5 . . . . . D . . . 0.043 . . . . . . . . . D D . . 4.191 28.600 0.991 D N -0.094 2.193 -0.481 1.233 0.002 0.372 0.546 0.464 0.492 . 2.590 1.480 -0.077 1.228 0.658 0.000 0.004 0.009 661 Zinc_finger_C2H2-type . . . ZNF284 170 0 254 44 0.147651006711409 TRUE NA ENSG00000089199.10 . BCM GRCh38.p13 chr20 5922838 5922838 + C C T Nonsense_Mutation SNP ENST00000378961.9 exon4 c.C694T p.R232X exonic ENSG00000089199.10 . stopgain ENSG00000089199.10:ENST00000378961.9:exon4:c.C694T:p.R232X 20p12.3 C3N-03853 2.498e-05 0 0 0 0 0 0 0.0002 rs760333741 3.6 . . . . N A . . . 0.516 . . . . . . . . . D D . . 5.181 33 0.997 N N 0.061 2.736 -0.234 1.706 0.001 0.706 0.590 0.710 0.530 . 5.450 2.260 -0.320 -0.144 0.599 0.004 0.202 0.311 614 . . . . CHGB 205 0 307 58 0.158904109589041 TRUE NA ENSG00000177398.18 . BCM GRCh38.p13 chr21 42111704 42111704 + G G A Missense_Mutation SNP ENST00000408910.6 exon12 c.G2098A p.A700T exonic ENSG00000177398.18 . nonsynonymous SNV ENSG00000177398.18:ENST00000408910.6:exon12:c.G2098A:p.A700T 21q22.3 C3N-03853 8.691e-06 0 0 0 0 0 0 7.002e-05 rs768607330 2.20 T D P B N N M T N 0.057 T T T 0.008 0.455 0.245 0.099 T T T T T T 0.033 1.555 0.906 N N -1.079 0.325 -1.138 0.338 1.000 0.497 0.590 0.578 0.542 . 4.410 0.265 -0.139 -0.849 -0.883 0.000 0.053 0.015 981 . . . ID=COSV61161227;OCCURENCE=1(large_intestine) UMODL1 51 0 102 21 0.170731707317073 TRUE TRUE ENSG00000188937.5 . BCM GRCh38.p13 chrX 41473836 41473836 + C C T Missense_Mutation SNP ENST00000342595.2 exon2 c.C383T p.A128V exonic ENSG00000188937.5 . nonsynonymous SNV ENSG00000188937.5:ENST00000342595.2:exon2:c.C383T:p.A128V Xp11.4 C3N-03853 0.0002 0 0 0 0 0 0 0.0013 rs778437203 3.19 T T B B N N N T N 0.017 T T D 0.211 0.418 0.997 0.797 D T T T T T 2.453 22.300 0.917 D . . . . . 0.995 . . . . . 4.640 3.760 3.716 0.086 0.518 0.998 0.995 0.974 69 . . . ID=COSV61180564;OCCURENCE=1(oesophagus) NYX 129 0 175 47 0.211711711711712 TRUE TRUE ENSG00000165288.11 . BCM GRCh38.p13 chrX 80707433 80707433 + G G C Missense_Mutation SNP ENST00000373275.5 exon22 c.C2546G p.S849C exonic ENSG00000165288.11 . nonsynonymous SNV ENSG00000165288.11:ENST00000373275.5:exon22:c.C2546G:p.S849C Xq21.1 C3N-03853 . . . . . . . . . 13.19 D D D D D D M T D 0.564 T T D 0.188 0.227 0.756 1.987 T D T T D D 3.835 26.000 0.994 D . . . . . 0.355 . . . . . 4.570 4.570 3.277 1.155 0.613 1.000 1.000 0.996 681 . . . . BRWD3 209 0 261 43 0.141447368421053 TRUE TRUE ENSG00000101972.19 . BCM GRCh38.p13 chrX 124037563 124037563 + G G T Missense_Mutation SNP ENST00000371160.5 exon6 c.G325T p.D109Y exonic ENSG00000101972.19 . nonsynonymous SNV ENSG00000101972.19:ENST00000371160.5:exon6:c.G325T:p.D109Y Xq25 C3N-03853 . . . . . . . . . 14.19 D D D D D D M T D 0.814 T T D 0.479 0.482 0.718 2.504 T T D D D D 4.120 27.900 0.995 D . . . . . 1.000 . . . . . 4.940 4.940 8.129 1.161 0.618 1.000 1.000 1.000 866 . . . . STAG2 141 0 206 18 0.0803571428571429 TRUE TRUE ENSG00000183434.10 . BCM GRCh38.p13 chrX 133217898 133217898 + G G A Missense_Mutation SNP ENST00000310125.5 exon1 c.C362T p.T121M exonic ENSG00000183434.10 . nonsynonymous SNV ENSG00000183434.10:ENST00000310125.5:exon1:c.C362T:p.T121M Xq26.2 C3N-03853 . . . . . . . . . 4.18 D D B B . D N T N 0.158 T T T 0.062 0.655 0.128 0.207 T T T T T D 0.397 5.392 0.708 N . . . . . 0.028 . . . . . 0.226 -0.452 2.411 -1.225 -1.531 1.000 0.433 0.100 434 E2F/DP_family,_winged-helix_DNA-binding_domain . . ID=COSV59536633;OCCURENCE=1(central_nervous_system),1(kidney) TFDP3 290 0 346 90 0.206422018348624 TRUE TRUE ENSG00000144481.17 . BCM GRCh38.p13 chr2 233945975 233945975 + C C T Silent SNP ENST00000324695.9 exon7 c.C819T p.V273V exonic ENSG00000144481.17 . synonymous SNV ENSG00000144481.17:ENST00000324695.9:exon7:c.C819T:p.V273V 2q37.1 C3N-03853 3.296e-05 0 0 0 0 5.996e-05 0 0 rs200501002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61222482;OCCURENCE=1(stomach),1(endometrium) TRPM8 189 0 204 44 0.17741935483871 TRUE TRUE ENSG00000090402.8 . BCM GRCh38.p13 chr3 165016012 165016012 + C C T Silent SNP ENST00000264382.8 exon32 c.G3828A p.Q1276Q exonic ENSG00000090402.8 . synonymous SNV ENSG00000090402.8:ENST00000264382.8:exon32:c.G3828A:p.Q1276Q 3q26.1 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SI 254 0 343 61 0.150990099009901 TRUE TRUE ENSG00000112320.12 . BCM GRCh38.p13 chr6 107634893 107634893 + C C T Silent SNP ENST00000317357.10 exon6 c.C2049T p.S683S exonic ENSG00000112320.12 . synonymous SNV ENSG00000112320.12:ENST00000317357.10:exon6:c.C2049T:p.S683S 6q21 C3N-03853 . . . . . . . . rs945395751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOBP 118 0 158 37 0.18974358974359 TRUE NA ENSG00000131018.24 . BCM GRCh38.p13 chr6 152442186 152442186 + C C T Silent SNP ENST00000367255.10 exon31 c.G3897A p.A1299A exonic ENSG00000131018.24 . synonymous SNV ENSG00000131018.24:ENST00000367255.10:exon31:c.G3897A:p.A1299A 6q25.2 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55034127;OCCURENCE=1(cervix),1(pancreas),1(lung) SYNE1 631 0 710 136 0.160756501182033 TRUE TRUE ENSG00000139044.12 . BCM GRCh38.p13 chr12 460412 460412 + C C T Silent SNP ENST00000266383.10 exon1 c.C36T p.L12L exonic ENSG00000139044.12 . synonymous SNV ENSG00000139044.12:ENST00000266383.10:exon1:c.C36T:p.L12L 12p13.33 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . B4GALNT3 216 0 261 68 0.206686930091185 TRUE NA ENSG00000133687.16 . BCM GRCh38.p13 chr12 29758754 29758754 + C C T Silent SNP ENST00000539277.6 exon3 c.G504A p.A168A exonic ENSG00000133687.16 . synonymous SNV ENSG00000133687.16:ENST00000539277.6:exon3:c.G504A:p.A168A 12p11.22 C3N-03853 0.0001 0 0.0004 0 0 0.0001 0 6.402e-05 rs769031907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55481117;OCCURENCE=1(pancreas) TMTC1 267 0 272 55 0.168195718654434 TRUE TRUE ENSG00000182870.13 . BCM GRCh38.p13 chr12 132247988 132247988 + G G A Silent SNP ENST00000328957.13 exon6 c.C999T p.R333R exonic ENSG00000182870.13 . synonymous SNV ENSG00000182870.13:ENST00000328957.13:exon6:c.C999T:p.R333R 12q24.33 C3N-03853 4.709e-05 0 0 0 0 0 0 0.0001 rs554309534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GALNT9 187 0 184 51 0.217021276595745 TRUE NA ENSG00000130477.15 . BCM GRCh38.p13 chr19 17641467 17641467 + G G A Silent SNP ENST00000519716.6 exon21 c.C2562T p.Y854Y exonic ENSG00000130477.15 . synonymous SNV ENSG00000130477.15:ENST00000519716.6:exon21:c.C2562T:p.Y854Y 19p13.11 C3N-03853 3.312e-05 0 0 0 0 4.495e-05 0 6.056e-05 rs374674567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13A 316 0 481 74 0.133333333333333 TRUE NA ENSG00000188559.15 . BCM GRCh38.p13 chr20 20572956 20572956 + T T C Silent SNP ENST00000202677.12 exon21 c.A2820G p.G940G exonic ENSG00000188559.15 . synonymous SNV ENSG00000188559.15:ENST00000202677.12:exon21:c.A2820G:p.G940G 20p11.23 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RALGAPA2 275 2 328 36 0.0989010989010989 TRUE TRUE ENSG00000146950.13 . BCM GRCh38.p13 chrX 9895993 9895993 + G G A Silent SNP ENST00000380913.8 exon4 c.G2085A p.T695T exonic ENSG00000146950.13 . synonymous SNV ENSG00000146950.13:ENST00000380913.8:exon4:c.G2085A:p.T695T Xp22.2 C3N-03853 2.167e-05 0.0002 0 0 0 0 0 0 rs760036869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66608779;OCCURENCE=1(large_intestine) SHROOM2 240 1 341 62 0.153846153846154 TRUE TRUE ENSG00000180815.14 . BCM GRCh38.p13 chrX 19413402 19413402 + G G T Silent SNP ENST00000338883.8 exon11 c.C1653A p.A551A exonic ENSG00000180815.14 . synonymous SNV ENSG00000180815.14:ENST00000338883.8:exon11:c.C1653A:p.A551A Xp22.12 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K15 118 1 145 16 0.0993788819875776 TRUE NA ENSG00000129680.16 . BCM GRCh38.p13 chrX 136231553 136231553 + G G A Silent SNP ENST00000316077.14 exon8 c.C1404T p.D468D exonic ENSG00000129680.16 . synonymous SNV ENSG00000129680.16:ENST00000316077.14:exon8:c.C1404T:p.D468D Xq26.3 C3N-03853 1.219e-05 0 0 0 0 2.146e-05 0 0 rs780117758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60170289;OCCURENCE=1(stomach) MAP7D3 121 0 164 30 0.154639175257732 TRUE TRUE ENSG00000115806.13 . BCM GRCh38.p13 chr2 170929827 170929827 + C C T Intron SNP NA NA NA NA intronic ENSG00000115806.13 . . . 2q31.1 C3N-03853 7.196e-05 0 0 0 0 0 0 0.0001 rs770400543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GORASP2 160 0 214 34 0.137096774193548 TRUE NA ENSG00000047365.12 . BCM GRCh38.p13 chr4 36259845 36259845 + C C T IGR SNP NA NA NA NA intergenic ENSG00000047365.12;ENSG00000247193.3 dist=15331;dist=11725 . . 4p14 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARAP2 334 2 446 85 0.160075329566855 TRUE NA ENSG00000249740.3 . BCM GRCh38.p13 chr5 38823189 38823189 + A A G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000249740.3 . . . 5p13.1 C3N-03853 . . . . . . . . rs984099683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OSMR-AS1 14 0 12 4 0.25 TRUE NA ENSG00000181355.21 . BCM GRCh38.p13 chr6 9809630 9809630 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000181355.21 . . . 6p24.3 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OFCC1 248 0 300 66 0.180327868852459 TRUE NA ENSG00000253763.1 . BCM GRCh38.p13 chr14 106056128 106056128 + G G A 5'Flank SNP NA NA NA NA upstream ENSG00000253763.1 dist=130 . . 14q32.33 C3N-03853 . . . . . . . . rs782376168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHV3-6 8 0 15 8 0.347826086956522 TRUE NA ENSG00000284675.1 . BCM GRCh38.p13 chr16 73127389 73127389 + T T C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000284675.1 . . . 16q22.3 C3N-03853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC116667.2 170 0 228 62 0.213793103448276 TRUE NA ENSG00000118473.22 . BCM GRCh38.p13 chr1 66682333 66682333 + G G A Missense_Mutation SNP ENST00000371037.9 exon15 c.G1279A p.G427R exonic ENSG00000118473.22 . nonsynonymous SNV ENSG00000118473.22:ENST00000371037.9:exon15:c.G1279A:p.G427R 1p31.3 C3N-04283 1.679e-05 0.0001 0 0.0001 0 0 0 0 rs375315309 11.20 D T D D N D M T N 0.767 T T D 0.239 . 0.110 0.614 D T T T D D 4.181 28.500 0.999 D D 0.572 5.645 0.612 6.371 1.000 0.487 0.547 0.574 0.714 . 5.490 5.490 6.945 1.176 0.676 1.000 1.000 0.996 866 . . . ID=COSV104378051;OCCURENCE=1(small_intestine) SGIP1 110 0 207 23 0.1 TRUE NA ENSG00000184005.11 . BCM GRCh38.p13 chr1 76412270 76412270 + G G A Missense_Mutation SNP ENST00000328299.4 exon3 c.G476A p.R159H exonic ENSG00000184005.11 . nonsynonymous SNV ENSG00000184005.11:ENST00000328299.4:exon3:c.G476A:p.R159H 1p31.1 C3N-04283 1.65e-05 0 0 0 0 2.999e-05 0 0 rs373383533 12.20 D T D D D D L T D 0.815 T T T 0.425 . 0.389 0.436 T T D D D D 3.758 25.600 0.998 D D 0.922 11.636 0.939 15.547 1.000 0.693 0.574 0.659 0.564 . 6.170 6.170 9.568 1.176 0.676 1.000 1.000 0.993 658 . . . ID=COSV60323951;OCCURENCE=1(cervix),2(large_intestine),1(central_nervous_system),1(stomach) ST6GALNAC3 315 0 429 44 0.0930232558139535 TRUE TRUE ENSG00000115970.18 . BCM GRCh38.p13 chr2 43398002 43398002 + C C T Missense_Mutation SNP ENST00000405006.8 exon29 c.G4196A p.R1399Q exonic ENSG00000115970.18 . nonsynonymous SNV ENSG00000115970.18:ENST00000405006.8:exon29:c.G4196A:p.R1399Q 2p21 C3N-04283 1.656e-05 0 0 0 0 2.998e-05 0 0 rs370092582 7.20 T T D P D D M T N 0.368 T T T 0.069 . 0.156 . T T T T D D 3.357 24.300 1.000 D N 0.114 2.943 0.190 3.134 1.000 0.706 0.634 0.710 0.613 . 5.170 4.290 4.510 1.026 0.599 1.000 1.000 0.999 927 . . . . THADA 136 1 277 24 0.079734219269103 TRUE NA ENSG00000115085.13 . BCM GRCh38.p13 chr2 97735449 97735449 + G G A Missense_Mutation SNP ENST00000264972.9 exon10 c.G1282A p.G428S exonic ENSG00000115085.13 . nonsynonymous SNV ENSG00000115085.13:ENST00000264972.9:exon10:c.G1282A:p.G428S 2q11.2 C3N-04283 3.357e-05 0 0 0 0 6.106e-05 0 0 rs149448335 1.20 T T B B N N L D N 0.194 T T T 0.173 . 0.644 0.709 T T T T T T 1.205 13.670 0.731 N N -0.786 0.675 -0.673 0.938 0.998 0.554 0.588 0.578 0.605 . 5.370 4.470 0.726 1.120 0.665 0.022 0.117 0.012 456 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . ZAP70 101 0 195 30 0.133333333333333 TRUE NA ENSG00000127418.15 . BCM GRCh38.p13 chr4 1012561 1012561 + C C G Missense_Mutation SNP ENST00000510644.6 exon2 c.C76G p.R26G exonic ENSG00000127418.15 . nonsynonymous SNV ENSG00000127418.15:ENST00000510644.6:exon2:c.C76G:p.R26G 4p16.3 C3N-04283 0.0002 0 0 0 0 0.0005 0 0 rs768315040 6.20 D D B B U D L T D 0.288 T T D 0.144 . 0.752 0.182 D T T T T T 2.488 22.400 0.984 N N -0.296 1.623 -0.265 1.638 1.000 0.652 0.552 0.641 0.373 . 2.360 1.470 0.187 0.851 0.495 0.360 0.963 0.943 867 . . . . FGFRL1 119 0 251 35 0.122377622377622 TRUE NA ENSG00000163625.15 . BCM GRCh38.p13 chr4 84772873 84772873 + A A G Missense_Mutation SNP ENST00000295888.8 exon30 c.T4811C p.V1604A exonic ENSG00000163625.15 . nonsynonymous SNV ENSG00000163625.15:ENST00000295888.8:exon30:c.T4811C:p.V1604A 4q21.23 C3N-04283 . . . . . . . . . 11.20 D D P B D D L T N 0.836 T T T 0.392 0.401 0.298 0.514 D T D D D D 3.338 24.200 0.998 D D 0.399 4.336 0.496 5.125 1.000 0.732 0.574 0.602 0.728 . 5.420 5.420 9.086 1.312 0.756 1.000 1.000 0.999 899 . . . ID=COSV55703811;OCCURENCE=1(large_intestine) WDFY3 168 0 177 37 0.172897196261682 TRUE TRUE ENSG00000050730.16 . BCM GRCh38.p13 chr4 121141890 121141890 + C C T Missense_Mutation SNP ENST00000057513.8 exon9 c.G811A p.G271S exonic ENSG00000050730.16 . nonsynonymous SNV ENSG00000050730.16:ENST00000057513.8:exon9:c.G811A:p.G271S 4q27 C3N-04283 1.676e-05 0 0 0.0001 0 0 0 6.535e-05 rs746466806 1.20 T T P B N N L T D 0.261 T T T 0.032 0.456 0.353 0.235 T T T T T T 0.649 7.980 0.836 N N -0.869 0.560 -0.964 0.535 1.000 0.554 0.588 0.574 0.613 . 4.770 0.700 0.418 -0.237 -0.171 0.001 0.001 0.088 824 . . . ID=COSV50246134;OCCURENCE=1(large_intestine) TNIP3 73 0 111 8 0.0672268907563025 TRUE TRUE ENSG00000112137.17 . BCM GRCh38.p13 chr6 13228045 13228045 + G G A Missense_Mutation SNP ENST00000332995.11 exon9 c.G1216A p.D406N exonic ENSG00000112137.17 . nonsynonymous SNV ENSG00000112137.17:ENST00000332995.11:exon9:c.G1216A:p.D406N 6p24.1 C3N-04283 1.702e-05 0 0 0.0001 0 0 0 6.132e-05 rs562927111 6.19 T T D P D D L T N 0.503 T T D 0.212 0.084 0.636 . T T T T T . 3.193 23.800 0.992 D D 0.455 4.705 0.551 5.659 1.000 0.615 0.588 0.659 0.655 . 5.760 5.760 9.107 1.176 0.676 1.000 0.721 0.836 890 . . . . PHACTR1 134 0 206 31 0.130801687763713 TRUE NA ENSG00000157212.19 . BCM GRCh38.p13 chr7 154975833 154975833 + T T C Missense_Mutation SNP ENST00000404141.6 exon6 c.A937G p.M313V exonic ENSG00000157212.19 . nonsynonymous SNV ENSG00000157212.19:ENST00000404141.6:exon6:c.A937G:p.M313V 7q36.2 C3N-04283 . . . . . . . . . 1.20 D T P B N N N T N 0.164 T T T 0.023 0.276 0.189 0.157 T T T T T T 0.695 8.408 0.871 N N -0.906 0.513 -0.984 0.509 0.828 0.707 0.725 0.725 0.636 . 5.040 -2.260 0.321 1.138 0.609 0.098 0.965 0.981 988 . . . . PAXIP1 271 1 595 58 0.0888208269525268 TRUE TRUE ENSG00000148408.13 . BCM GRCh38.p13 chr9 138023675 138023675 + C C T Missense_Mutation SNP ENST00000371372.6 exon19 c.C2932T p.R978W exonic ENSG00000148408.13 . nonsynonymous SNV ENSG00000148408.13:ENST00000371372.6:exon19:c.C2932T:p.R978W 9q34.3 C3N-04283 . . . . . . . . . 18.20 D D D D N D M D D 0.399 D D D 0.526 0.359 0.870 1.688 D D D D D D 3.348 24.300 0.999 D N 0.160 3.133 0.015 2.411 0.992 0.598 0.590 0.607 0.639 . 4.040 0.294 0.431 -0.043 0.520 0.813 0.352 0.915 982 . . . . CACNA1B 304 0 536 147 0.215226939970717 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 C3N-04283 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 107 0 146 25 0.146198830409357 TRUE NA ENSG00000162298.18 . BCM GRCh38.p13 chr11 65131368 65131368 + T T C Missense_Mutation SNP ENST00000377190.7 exon8 c.A664G p.I222V exonic ENSG00000162298.18 . nonsynonymous SNV ENSG00000162298.18:ENST00000377190.7:exon8:c.A664G:p.I222V 11q13.1 C3N-04283 . . . . . . . . . 4.20 T T B B D D N T N 0.273 T T T 0.060 0.378 0.329 1.007 T T T T T T 2.543 22.500 0.994 D D -0.213 1.841 -0.041 2.224 1.000 0.707 0.672 0.725 0.711 . 4.490 4.490 3.859 1.138 0.665 1.000 1.000 0.990 420 . . . . SYVN1 184 0 304 30 0.0898203592814371 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-04283 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 251 0 307 52 0.144846796657382 TRUE TRUE ENSG00000089250.19 . BCM GRCh38.p13 chr12 117272420 117272420 + C C T Missense_Mutation SNP ENST00000317775.11 exon10 c.G1804A p.D602N exonic ENSG00000089250.19 . nonsynonymous SNV ENSG00000089250.19:ENST00000317775.11:exon10:c.G1804A:p.D602N 12q24.22 C3N-04283 . . . . . . . . . 9.20 T T D P D D N T D 0.699 T T D 0.212 0.702 0.753 2.233 T T T T D D 3.148 23.700 0.999 D D 0.333 3.954 0.430 4.580 1.000 0.638 0.590 0.653 0.564 . 4.700 4.700 6.172 1.026 0.599 1.000 0.980 0.997 893 Nitric_oxide_synthase,_N-terminal . . . NOS1 506 1 764 101 0.116763005780347 TRUE TRUE ENSG00000183463.6 . BCM GRCh38.p13 chr13 27978327 27978327 + G G A Missense_Mutation SNP ENST00000332715.6 exon2 c.C301T p.R101W exonic ENSG00000183463.6 . nonsynonymous SNV ENSG00000183463.6:ENST00000332715.6:exon2:c.C301T:p.R101W 13q12.2 C3N-04283 . . . . . . . . . 5.20 T T D D N N M T N 0.403 T T D 0.149 0.593 0.293 0.894 D T T T T T 2.143 20.400 0.997 N N -0.214 1.838 -0.463 1.264 0.830 0.598 0.590 0.378 0.639 . 4.510 1.140 -0.089 -0.867 -0.197 0.002 0.000 0.003 904 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline_decarboxylase,_type_1;Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline_decarboxylase . . . URAD 137 0 284 39 0.120743034055728 TRUE NA ENSG00000133958.13 . BCM GRCh38.p13 chr14 93540782 93540782 + A A T Missense_Mutation SNP ENST00000393151.6 exon13 c.A1475T p.D492V exonic ENSG00000133958.13 . nonsynonymous SNV ENSG00000133958.13:ENST00000393151.6:exon13:c.A1475T:p.D492V 14q32.12 C3N-04283 . . . . . . . . . 11.19 T D D D D D N T N 0.900 T T D 0.442 0.330 0.068 2.535 T T D D D . 3.549 24.900 0.992 D D 0.627 6.212 0.647 6.861 1.000 0.554 0.574 0.602 0.613 . 5.610 5.610 9.067 1.312 0.756 1.000 0.917 0.903 851 . . . . UNC79 300 1 498 62 0.110714285714286 TRUE TRUE ENSG00000237289.10 . BCM GRCh38.p13 chr15 43596451 43596451 + G G T Missense_Mutation SNP ENST00000441322.6 exon6 c.G796T p.D266Y exonic ENSG00000237289.10 . nonsynonymous SNV ENSG00000237289.10:ENST00000441322.6:exon6:c.G796T:p.D266Y 15q15.3 C3N-04283 . . . . . . . . . 13.15 D D . . D D . T D 0.980 D T D 0.674 0.927 0.851 2.171 D . D D D . 4.162 28.300 0.995 D D 1.061 15.963 0.919 14.589 1.000 0.707 0.574 0.725 0.530 . 4.490 4.490 9.992 1.166 0.608 1.000 1.000 0.983 11 . . . . CKMT1B 118 0 210 24 0.102564102564103 NA TRUE ENSG00000173546.7 . BCM GRCh38.p13 chr15 75685440 75685440 + G G C Missense_Mutation SNP ENST00000308508.5 exon4 c.C4051G p.L1351V exonic ENSG00000173546.7 . nonsynonymous SNV ENSG00000173546.7:ENST00000308508.5:exon4:c.C4051G:p.L1351V 15q24.2 C3N-04283 . . . . . . . . . 2.20 T T P B N D L T N 0.290 T T T 0.116 0.490 0.192 0.342 T T T T T T 1.224 13.820 0.700 D N -0.192 1.900 -0.080 2.105 1.000 0.653 0.616 0.597 0.639 . 4.760 4.760 0.748 1.057 0.567 0.964 0.755 0.010 162 . . . . CSPG4 318 0 473 65 0.120817843866171 TRUE TRUE ENSG00000168140.5 . BCM GRCh38.p13 chr16 4382405 4382405 + A A G Missense_Mutation SNP ENST00000304735.4 exon2 c.A1528G p.T510A exonic ENSG00000168140.5 . nonsynonymous SNV ENSG00000168140.5:ENST00000304735.4:exon2:c.A1528G:p.T510A 16p13.3 C3N-04283 . . . . . . . . . 5.19 T T D B N D L D N 0.232 T T D 0.235 0.319 0.755 0.187 T T T T T . 1.994 19.210 0.940 D N 0.161 3.133 0.244 3.404 1.000 0.718 0.551 0.571 0.563 . 5.390 5.390 1.648 1.294 0.729 0.054 0.831 0.810 572 Fibronectin_type_III . . ID=COSV52033235;OCCURENCE=1(urinary_tract) VASN 300 0 505 61 0.107773851590106 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673787 7673787 + G G T Missense_Mutation SNP ENST00000269305.8 exon8 c.C833A p.P278H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.C833A:p.P278H 17p13.1 C3N-04283 . . . . . . . . rs876659802 19.20 D D D D D D M D D 0.939 D D D 0.950 0.953 0.981 0.412 T D D D D D 4.340 29.900 0.997 D D 0.858 10.017 0.768 9.244 1.000 0.722 0.702 0.725 0.735 . 5.130 4.160 10.003 1.172 0.672 1.000 0.996 1.000 432 p53,_DNA-binding_domain . . ID=COSV52665769;OCCURENCE=1(breast),2(oesophagus),1(adrenal_gland),3(large_intestine),3(central_nervous_system),1(ovary),2(haematopoietic_and_lymphoid_tissue),2(soft_tissue),2(pancreas),1(prostate),5(lung),1(upper_aerodigestive_tract) TP53 657 0 978 141 0.126005361930295 TRUE TRUE ENSG00000070540.13 . BCM GRCh38.p13 chr17 68450771 68450774 + TAAT TAAT - Frame_Shift_Del DEL ENST00000262139.10 exon3 c.287_290del p.N96Tfs*10 exonic ENSG00000070540.13 . frameshift deletion ENSG00000070540.13:ENST00000262139.10:exon3:c.287_290del:p.N96Tfs*10 17q24.2 C3N-04283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WIPI1 125 0 239 37 0.134057971014493 TRUE TRUE ENSG00000176293.19 . BCM GRCh38.p13 chr19 58067828 58067838 + CCACAGCTCCT CCACAGCTCCT - Frame_Shift_Del DEL ENST00000313434.9 exon5 c.1344_1354del p.H449Tfs*5 exonic ENSG00000176293.19 . frameshift deletion ENSG00000176293.19:ENST00000313434.9:exon5:c.1344_1354del:p.H449Tfs*5 19q13.43 C3N-04283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF135 551 0 869 47 0.0513100436681223 NA TRUE ENSG00000100227.18 . BCM GRCh38.p13 chr22 42602919 42602919 + G G C Missense_Mutation SNP ENST00000252115.10 exon2 c.C301G p.R101G exonic ENSG00000100227.18 . nonsynonymous SNV ENSG00000100227.18:ENST00000252115.10:exon2:c.C301G:p.R101G 22q13.2 C3N-04283 . . . . . . . . . 14.19 D D D D N D M . D 0.939 T T D 0.270 0.418 0.669 0.505 T T D D D D 4.079 27.600 0.999 D D 0.519 5.187 0.517 5.320 1.000 0.707 0.725 0.702 0.714 . 6.080 4.000 5.810 1.176 0.618 1.000 0.992 0.997 232 . . . . POLDIP3 277 0 542 63 0.104132231404959 TRUE TRUE ENSG00000077279.19 . BCM GRCh38.p13 chrX 111410134 111410134 + G G A Nonsense_Mutation SNP ENST00000635795.1 exon2 c.C265T p.R89X exonic ENSG00000077279.19 . stopgain ENSG00000077279.19:ENST00000635795.1:exon2:c.C265T:p.R89X Xq23 C3N-04283 . . . . . . . . rs104894785 5.5 . . . . D A . . . 0.901 . . . . . . . . . D D . . 5.611 34 0.997 D . . . . . 1.000 . . . . . 5.500 3.720 3.389 0.194 -0.154 1.000 0.993 0.980 900 Doublecortin_domain . . ID=COSV57565612;OCCURENCE=1(breast),1(liver),2(large_intestine),1(prostate) DCX 180 0 325 45 0.121621621621622 TRUE TRUE ENSG00000005884.18 . BCM GRCh38.p13 chr17 50075598 50075598 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000005884.18 ENST00000320031.13:exon12:c.1538-1G>C . . 17q21.33 C3N-04283 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.051 35 0.994 D . 1.233 27.090 1.092 26.169 1.000 0.106 0.106 0.084 0.118 0.983 5.540 5.540 6.662 1.176 0.676 1.000 0.894 0.972 817 . . . . ITGA3 223 0 464 75 0.139146567717996 TRUE TRUE ENSG00000162761.14 . BCM GRCh38.p13 chr1 165210702 165210702 + C C T Silent SNP ENST00000342310.7 exon6 c.G744A p.A248A exonic ENSG00000162761.14 . synonymous SNV ENSG00000162761.14:ENST00000342310.7:exon6:c.G744A:p.A248A 1q23.3 C3N-04283 0.0009 9.626e-05 0.0003 0 0.0002 0.0012 0.0022 0.0013 rs146395249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54217285;OCCURENCE=1(skin),1(prostate) LMX1A 107 0 165 18 0.0983606557377049 TRUE TRUE ENSG00000198626.17 . BCM GRCh38.p13 chr1 237503436 237503436 + C C T Silent SNP ENST00000366574.7 exon22 c.C2544T p.R848R exonic ENSG00000198626.17 . synonymous SNV ENSG00000198626.17:ENST00000366574.7:exon22:c.C2544T:p.R848R 1q43 C3N-04283 2.485e-05 0 0 0 0 4.496e-05 0 0 rs748097250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63683700;OCCURENCE=1(biliary_tract),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(pancreas) RYR2 171 0 362 41 0.101736972704715 TRUE TRUE ENSG00000214021.16 . BCM GRCh38.p13 chr3 9820697 9820697 + C C T Silent SNP ENST00000426895.9 exon7 c.C1110T p.P370P exonic ENSG00000214021.16;ENSG00000250151.9 . synonymous SNV ENSG00000214021.16:ENST00000426895.9:exon7:c.C1110T:p.P370P,ENSG00000250151.9:ENST00000397256.5:exon8:c.C864T:p.P288P 3p25.3 C3N-04283 1.648e-05 0 8.645e-05 0 0 1.499e-05 0 0 rs753309450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTLL3 200 0 325 55 0.144736842105263 TRUE NA ENSG00000163788.14 . BCM GRCh38.p13 chr3 43347810 43347810 + T T G Silent SNP ENST00000296088.12 exon7 c.T1551G p.A517A exonic ENSG00000163788.14 . synonymous SNV ENSG00000163788.14:ENST00000296088.12:exon7:c.T1551G:p.A517A 3p22.1 C3N-04283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNRK 185 0 261 43 0.141447368421053 TRUE TRUE ENSG00000250673.2 . BCM GRCh38.p13 chr4 146228433 146228433 + G G A Silent SNP ENST00000636502.1 exon5 c.G819A p.P273P exonic ENSG00000250673.2 . synonymous SNV ENSG00000250673.2:ENST00000636502.1:exon5:c.G819A:p.P273P 4q31.22 C3N-04283 9.275e-05 0 0 0 . 0 0 0.0001 rs746377000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV73413687;OCCURENCE=1(breast) REELD1 320 0 589 70 0.106221547799697 TRUE NA ENSG00000146360.8 . BCM GRCh38.p13 chr6 109979397 109979397 + G G A Silent SNP ENST00000275169.4 exon1 c.G285A p.A95A exonic ENSG00000146360.8 . synonymous SNV ENSG00000146360.8:ENST00000275169.4:exon1:c.G285A:p.A95A 6q21 C3N-04283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51574292;OCCURENCE=1(ovary) GPR6 577 0 810 107 0.116684841875682 TRUE TRUE ENSG00000198010.12 . BCM GRCh38.p13 chr8 1565784 1565784 + C C T Silent SNP ENST00000421627.7 exon6 c.C1329T p.D443D exonic ENSG00000198010.12 . synonymous SNV ENSG00000198010.12:ENST00000421627.7:exon6:c.C1329T:p.D443D 8p23.3 C3N-04283 4.237e-05 0.0003 0 0 0 3.065e-05 0 0 rs371842482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV70102294;OCCURENCE=1(large_intestine),2(stomach),1(kidney) DLGAP2 223 0 330 45 0.12 TRUE TRUE ENSG00000005884.18 . BCM GRCh38.p13 chr17 50075732 50075732 + G G A Silent SNP ENST00000320031.13 exon12 c.G1671A p.L557L exonic ENSG00000005884.18 . synonymous SNV ENSG00000005884.18:ENST00000320031.13:exon12:c.G1671A:p.L557L 17q21.33 C3N-04283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA3 161 0 308 36 0.104651162790698 TRUE TRUE ENSG00000142156.15 . BCM GRCh38.p13 chr21 45998433 45998433 + C C T Silent SNP ENST00000361866.8 exon24 c.C1611T p.N537N exonic ENSG00000142156.15 . synonymous SNV ENSG00000142156.15:ENST00000361866.8:exon24:c.C1611T:p.N537N 21q22.3 C3N-04283 0.0003 0 0 0 0.0005 0.0004 0 0 rs200023632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL6A1 354 0 534 47 0.080895008605852 TRUE NA ENSG00000100346.18 . BCM GRCh38.p13 chr22 39684357 39684357 + C C T Silent SNP ENST00000402142.4 exon36 c.C5886T p.A1962A exonic ENSG00000100346.18 . synonymous SNV ENSG00000100346.18:ENST00000402142.4:exon36:c.C5886T:p.A1962A 22q13.1 C3N-04283 . . . . . . . . rs929240706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1I 497 0 883 116 0.116116116116116 TRUE NA ENSG00000185386.15 . BCM GRCh38.p13 chr22 50267016 50267016 + G G A Silent SNP ENST00000330651.11 exon7 c.C528T p.D176D exonic ENSG00000185386.15 . synonymous SNV ENSG00000185386.15:ENST00000330651.11:exon7:c.C528T:p.D176D 22q13.33 C3N-04283 1.669e-05 9.798e-05 0 0.0001 0 0 0 0 rs200171398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPK11 165 0 336 35 0.0943396226415094 TRUE NA ENSG00000169933.15 . BCM GRCh38.p13 chrX 12717730 12717730 + G G A Silent SNP ENST00000380682.5 exon16 c.G2904A p.S968S exonic ENSG00000169933.15 . synonymous SNV ENSG00000169933.15:ENST00000380682.5:exon16:c.G2904A:p.S968S Xp22.2 C3N-04283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66223530;OCCURENCE=1(breast),1(meninges),1(stomach) FRMPD4 190 0 267 40 0.130293159609121 TRUE TRUE ENSG00000009780.15 . BCM GRCh38.p13 chr1 27760053 27760053 + G G A Intron SNP NA NA NA NA intronic ENSG00000009780.15 . . . 1p35.3 C3N-04283 0.0005 0.0066 0 0 0 0 0 0.0002 rs575900320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM76A 109 0 210 20 0.0869565217391304 TRUE NA ENSG00000119787.14 . BCM GRCh38.p13 chr2 38296521 38296521 + G G T Intron SNP NA NA NA NA intronic ENSG00000119787.14 . . . 2p22.2 C3N-04283 . . . . . . . . . 7.17 T T B B . D . D N 0.356 T D D 0.261 0.203 0.775 . . T D T T T 2.018 19.390 0.943 D D -0.136 2.063 0.080 2.655 1.000 0.707 0.654 0.725 0.636 . 5.320 5.320 3.921 1.176 0.676 1.000 1.000 0.999 830 . . . . ATL2 183 0 252 26 0.0935251798561151 TRUE TRUE ENSG00000153094.24 . BCM GRCh38.p13 chr2 111153803 111153803 + G G C Intron SNP NA NA NA NA intronic ENSG00000153094.24 . . . 2q13 C3N-04283 . . . . . . . . . 0.6 . . . . . N . . . 0.086 . . . . . 0.189 . . . T T . T 0.493 6.434 0.877 N N . . . . 1.000 0.651 0.546 0.651 0.221 . 4.310 -7.970 -1.081 -0.704 -0.113 0.010 0.954 0.998 783 . . . . BCL2L11 157 0 291 31 0.0962732919254658 TRUE TRUE ENSG00000272031.3 . BCM GRCh38.p13 chr1 145960657 145960657 + G G C Missense_Mutation SNP ENST00000606888.3 exon4 c.C1103G p.P368R exonic ENSG00000272031.3 . nonsynonymous SNV ENSG00000272031.3:ENST00000606888.3:exon4:c.C1103G:p.P368R 1q21.1 C3L-02109 . . . . . . . . rs781981808 1.4 . T . . . . . . . 0.525 . . . . . . . . T . . . T 3.524 24.800 . . D . . . . . . . . . . . . 4.575 1.176 0.618 1.000 0.998 0.998 958 . . . . ANKRD34A 47 0 136 40 0.227272727272727 TRUE NA ENSG00000143748.18 . BCM GRCh38.p13 chr1 224300651 224300651 + G G A Missense_Mutation SNP ENST00000281701.11 exon10 c.C973T p.P325S exonic ENSG00000143748.18 . nonsynonymous SNV ENSG00000143748.18:ENST00000281701.11:exon10:c.C973T:p.P325S 1q42.11 C3L-02109 . . . . . . . . . 17.20 D D D D D D L T D 0.725 D D D 0.720 0.662 0.922 0.941 T D D D D D 4.227 28.900 0.999 D D 0.672 6.742 0.702 7.790 1.000 0.732 0.654 0.744 0.655 . 5.400 5.400 9.744 1.176 0.676 1.000 0.972 0.955 661 ATPase,_AAA-type,_core;AAA+_ATPase_domain . . . NVL 97 0 216 68 0.23943661971831 TRUE TRUE ENSG00000196862.10 . BCM GRCh38.p13 chr2 107861683 107861683 + G G T Missense_Mutation SNP ENST00000408999.4 exon15 c.G2148T p.R716S exonic ENSG00000196862.10 . nonsynonymous SNV ENSG00000196862.10:ENST00000408999.4:exon15:c.G2148T:p.R716S 2q12.3 C3L-02109 . . . . . . . . . 7.19 D D B B . N M T D 0.543 T T T 0.060 0.374 0.095 . T T T T D D 2.427 22.200 0.972 D N -0.285 1.651 -0.290 1.586 0.000 0.487 0.574 0.574 0.564 . 2.600 1.520 0.410 1.061 0.302 0.998 0.999 0.797 963 . . . . RGPD4 140 0 195 24 0.10958904109589 NA TRUE ENSG00000168702.18 . BCM GRCh38.p13 chr2 141188568 141188568 + G G A Missense_Mutation SNP ENST00000389484.8 exon7 c.C866T p.A289V exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon7:c.C866T:p.A289V 2q22.1 C3L-02109 3.323e-05 0 0 0.0001 0 0 0 0.0002 rs762658862 17.20 T D D D U D M D D 0.919 D D D 0.818 0.650 0.459 0.413 T D D D D D 4.189 28.600 0.999 D D 0.838 9.580 0.825 10.920 1.000 0.487 0.574 0.574 0.564 . 5.200 5.200 9.663 0.225 0.676 1.000 0.958 0.998 652 . . . . LRP1B 112 0 201 30 0.12987012987013 TRUE NA ENSG00000115806.13 . BCM GRCh38.p13 chr2 170965810 170965810 + A A T Missense_Mutation SNP ENST00000234160.5 exon10 c.A1039T p.M347L exonic ENSG00000115806.13 . nonsynonymous SNV ENSG00000115806.13:ENST00000234160.5:exon10:c.A1039T:p.M347L 2q31.1 C3L-02109 . . . . . . . . . 0.20 T T B B N N N T N 0.107 T T T 0.026 0.361 0.117 0.126 T T T T T T 0.868 10.100 0.499 N N -1.021 0.383 -0.727 0.861 1.000 0.707 0.702 0.702 0.714 . 5.610 2.000 1.506 -0.137 -0.106 1.000 0.976 0.837 651 . . . . GORASP2 206 0 427 66 0.133874239350913 TRUE TRUE ENSG00000114541.15 . BCM GRCh38.p13 chr3 69176548 69176548 + T T C Missense_Mutation SNP ENST00000398540.8 exon22 c.A2960G p.Y987C exonic ENSG00000114541.15 . nonsynonymous SNV ENSG00000114541.15:ENST00000398540.8:exon22:c.A2960G:p.Y987C 3p14.1 C3L-02109 8.281e-06 0 0 0 0 1.498e-05 0 0 rs758394679 10.20 D T B B N D M D N 0.431 D D D 0.531 0.290 0.398 0.061 T T T D T D 2.506 22.400 0.985 D N 0.303 3.794 0.382 4.235 1.000 0.722 0.588 0.659 0.735 . 5.690 5.690 2.268 1.109 0.609 1.000 0.994 0.998 527 . . . ID=COSV101273630;OCCURENCE=1(liver) FRMD4B 127 0 194 35 0.152838427947598 TRUE NA ENSG00000174473.16 . BCM GRCh38.p13 chr4 171814690 171814690 + T T C Missense_Mutation SNP ENST00000506823.6 exon2 c.T110C p.V37A exonic ENSG00000174473.16 . nonsynonymous SNV ENSG00000174473.16:ENST00000506823.6:exon2:c.T110C:p.V37A 4q34.1 C3L-02109 . . . . . . . . . 3.20 T T B B N D N T N 0.263 T T T 0.130 0.605 0.508 0.596 T T T T T T 2.016 19.380 0.916 D D -0.186 1.917 0.082 2.661 1.000 0.583 0.563 0.615 0.530 . 5.900 5.900 6.295 1.138 0.665 1.000 0.996 0.914 972 . . . . GALNTL6 234 0 446 68 0.132295719844358 TRUE TRUE ENSG00000112941.14 . BCM GRCh38.p13 chr5 6737622 6737622 + C C T Missense_Mutation SNP ENST00000230859.8 exon2 c.C829T p.P277S exonic ENSG00000112941.14 . nonsynonymous SNV ENSG00000112941.14:ENST00000230859.8:exon2:c.C829T:p.P277S 5p15.31 C3L-02109 . . . . . . . . . 11.14 . D . . D D . . D 0.764 T T D 0.469 - 0.513 2.243 T . D D D D 3.901 26.400 0.999 D D 0.804 8.859 0.750 8.801 1.000 0.707 0.522 0.725 0.714 . 5.050 5.050 7.114 1.026 0.549 1.000 0.933 0.987 809 Polymerase,_nucleotidyl_transferase_domain . . . TENT4A 147 0 260 56 0.177215189873418 TRUE TRUE ENSG00000039139.9 . BCM GRCh38.p13 chr5 13780952 13780952 + C C T Missense_Mutation SNP ENST00000265104.4 exon53 c.G8828A p.R2943H exonic ENSG00000039139.9 . nonsynonymous SNV ENSG00000039139.9:ENST00000265104.4:exon53:c.G8828A:p.R2943H 5p15.2 C3L-02109 5.807e-05 0 0 0 0 7.54e-05 0 0.0001 rs184758570 17.19 D . D D D D H T D 0.986 D D D 0.632 . 0.862 0.444 T D D D D D 3.902 26.400 0.999 D D 1.014 14.379 0.842 11.469 1.000 0.487 0.574 0.574 0.564 . 5.560 5.560 7.811 1.026 0.599 1.000 0.632 0.545 707 Dynein_heavy_chain,_AAA_module_D4 . . ID=COSV54203923;OCCURENCE=1(large_intestine),2(pancreas),1(endometrium) DNAH5 197 0 433 84 0.16247582205029 TRUE TRUE ENSG00000275379.2 . BCM GRCh38.p13 chr6 27872000 27872000 + C C T Missense_Mutation SNP ENST00000616365.2 exon1 c.G316A p.E106K exonic ENSG00000275379.2 . nonsynonymous SNV ENSG00000275379.2:ENST00000616365.2:exon1:c.G316A:p.E106K 6p22.1 C3L-02109 . . . . . . . . . 9.11 . D . . . D . . . 0.932 T T D 0.650 . 0.601 . D . D D D . 3.483 24.700 0.992 D D 0.377 4.206 0.396 4.329 1.000 0.243 0.219 0.391 0.250 . 4.120 4.120 7.701 1.022 0.596 1.000 0.734 0.723 485 . . . ID=COSV100137683;OCCURENCE=1(upper_aerodigestive_tract) H3C11 254 0 480 61 0.11275415896488 TRUE TRUE ENSG00000112218.9 . BCM GRCh38.p13 chr6 96798938 96798938 + A A G Missense_Mutation SNP ENST00000229955.4 exon2 c.T794C p.I265T exonic ENSG00000112218.9 . nonsynonymous SNV ENSG00000112218.9:ENST00000229955.4:exon2:c.T794C:p.I265T 6q16.1 C3L-02109 . . . . . . . . . 16.20 D D D D D D M T D 0.932 T T D 0.774 0.871 0.668 0.589 D T D D D D 3.880 26.200 0.998 D D 0.848 9.788 0.805 10.283 1.000 0.719 0.654 0.723 0.564 . 5.200 5.200 8.947 1.312 0.756 1.000 1.000 1.000 754 GPCR,_rhodopsin-like,_7TM . . . GPR63 287 0 584 62 0.0959752321981424 TRUE TRUE ENSG00000130023.16 . BCM GRCh38.p13 chr6 169773388 169773388 + C C G Missense_Mutation SNP ENST00000366773.8 exon13 c.C1303G p.Q435E exonic ENSG00000130023.16 . nonsynonymous SNV ENSG00000130023.16:ENST00000366773.8:exon13:c.C1303G:p.Q435E 6q27 C3L-02109 . . . . . . . . . 2.19 D T P B N N L T N 0.402 T T T 0.060 0.351 0.292 0.057 . T T T T D 1.272 14.180 0.525 N N -0.469 1.239 -0.526 1.160 0.079 0.707 0.725 0.659 0.684 . 5.180 4.310 1.664 0.980 0.599 0.155 0.700 0.004 929 . . . . ERMARD 134 0 194 22 0.101851851851852 TRUE TRUE ENSG00000105989.10 . BCM GRCh38.p13 chr7 117278346 117278346 + A A G Missense_Mutation SNP ENST00000265441.8 exon5 c.T892C p.S298P exonic ENSG00000105989.10 . nonsynonymous SNV ENSG00000105989.10:ENST00000265441.8:exon5:c.T892C:p.S298P 7q31.2 C3L-02109 . . . . . . . . . 18.20 D D D D D D H T D 0.823 D D D 0.900 0.611 0.725 0.983 T D D D D D 4.314 29.700 0.999 D D 0.993 13.691 0.939 15.534 1.000 0.554 0.588 0.574 0.621 . 5.870 5.870 9.325 1.312 0.756 1.000 0.999 0.990 425 . . . . WNT2 168 0 394 68 0.147186147186147 TRUE TRUE ENSG00000165113.13 . BCM GRCh38.p13 chr9 83799190 83799190 + C C T Missense_Mutation SNP ENST00000376371.7 exon4 c.G355A p.E119K exonic ENSG00000165113.13 . nonsynonymous SNV ENSG00000165113.13:ENST00000376371.7:exon4:c.G355A:p.E119K 9q21.32 C3L-02109 2.471e-05 0 0 0 0 0 0 0.0002 rs767081495 7.19 T T P B D D L . N 0.790 T T T 0.218 0.207 0.416 0.158 T T D D T D 2.883 23.200 0.998 D D 0.305 3.807 0.434 4.606 1.000 0.638 0.634 0.653 0.568 . 5.290 5.290 6.911 1.022 0.596 1.000 1.000 0.999 968 . . . . GKAP1 229 0 321 32 0.0906515580736544 TRUE NA ENSG00000127084.19 . BCM GRCh38.p13 chr9 93029995 93029995 + C C A Missense_Mutation SNP ENST00000375482.8 exon15 c.C1679A p.A560E exonic ENSG00000127084.19 . nonsynonymous SNV ENSG00000127084.19:ENST00000375482.8:exon15:c.C1679A:p.A560E 9q22.31 C3L-02109 . . . . . . . . . 2.20 T T B B N D N T N 0.250 T T T 0.161 0.553 0.309 0.470 T T T T T T 0.489 6.389 0.428 D N -1.025 0.378 -1.008 0.479 1.000 0.707 0.725 0.602 0.613 . 4.310 -1.100 0.609 -3.210 -1.642 0.492 0.014 0.048 970 FYVE_zinc_finger;Zinc_finger,_FYVE-related . . . FGD3 91 0 146 25 0.146198830409357 TRUE TRUE ENSG00000136931.10 . BCM GRCh38.p13 chr9 124500442 124500442 + A A G Missense_Mutation SNP ENST00000373588.9 exon4 c.T518C p.V173A exonic ENSG00000136931.10 . nonsynonymous SNV ENSG00000136931.10:ENST00000373588.9:exon4:c.T518C:p.V173A 9q33.3 C3L-02109 . . . . . . . . . 6.20 D T B B N N L D N 0.365 T D D 0.403 0.537 0.846 1.099 T T T T T T 1.486 15.650 0.975 D D -0.493 1.190 -0.475 1.242 1.000 0.497 0.578 0.578 0.542 . 4.950 3.800 4.031 1.312 0.756 0.998 0.352 0.646 702 Nuclear_hormone_receptor,_ligand-binding_domain . . . NR5A1 170 0 397 64 0.13882863340564 TRUE TRUE ENSG00000095585.17 . BCM GRCh38.p13 chr10 96271385 96271385 + T T C Missense_Mutation SNP ENST00000224337.10 exon1 c.A14G p.N5S exonic ENSG00000095585.17 . nonsynonymous SNV ENSG00000095585.17:ENST00000224337.10:exon1:c.A14G:p.N5S 10q24.1 C3L-02109 . . . . . . . . . 8.19 D D D D D D L . N 0.495 T T T 0.139 0.275 0.647 0.906 T T T T D D 2.365 21.900 0.984 N N 0.432 4.549 0.470 4.893 1.000 0.487 0.522 0.574 0.542 . 5.800 5.800 2.609 1.138 0.665 1.000 1.000 0.997 447 . . . . BLNK 241 0 360 64 0.150943396226415 TRUE TRUE ENSG00000107815.10 . BCM GRCh38.p13 chr10 100988320 100988320 + G G A Missense_Mutation SNP ENST00000311916.8 exon1 c.G110A p.R37H exonic ENSG00000107815.10 . nonsynonymous SNV ENSG00000107815.10:ENST00000311916.8:exon1:c.G110A:p.R37H 10q24.31 C3L-02109 . . . . . . . . . 6.19 T T B B D D L D N 0.173 D D D 0.279 0.248 0.461 0.679 . T T T T T 1.787 17.640 0.989 N N -0.477 1.222 -0.367 1.433 1.000 0.628 0.672 0.686 0.628 . 5.590 4.680 0.896 1.166 0.665 0.198 0.658 0.023 552 . . . . TWNK 364 0 732 115 0.135773317591499 TRUE TRUE ENSG00000215009.5 . BCM GRCh38.p13 chr12 7306678 7306678 + G G A Missense_Mutation SNP ENST00000399422.4 exon2 c.G347A p.R116H exonic ENSG00000215009.5 . nonsynonymous SNV ENSG00000215009.5:ENST00000399422.4:exon2:c.G347A:p.R116H 12p13.31 C3L-02109 6.699e-05 0.0001 0.0001 0 0.0002 1.974e-05 0 0.0002 rs370415520 4.20 T T P B N N M T D 0.316 T T T 0.161 . 0.288 0.462 T T T T T T 2.069 19.780 0.990 D D -0.039 2.376 -0.063 2.157 0.005 0.487 0.574 0.574 0.530 . 4.890 3.990 5.279 0.210 -0.119 1.000 0.349 0.196 670 AMP-dependent_synthetase/ligase . . . ACSM4 274 0 529 100 0.158982511923688 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3L-02109 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 241 0 376 65 0.147392290249433 TRUE TRUE ENSG00000135519.8 . BCM GRCh38.p13 chr12 49550320 49550320 + G G A Missense_Mutation SNP ENST00000257981.7 exon10 c.G1909A p.A637T exonic ENSG00000135519.8 . nonsynonymous SNV ENSG00000135519.8:ENST00000257981.7:exon10:c.G1909A:p.A637T 12q13.12 C3L-02109 . . . . . . . . . 17.20 D D P P D D H D D 0.670 D D D 0.738 0.533 0.950 2.277 T D D D D D 4.382 31 0.999 D D 0.905 11.183 0.890 13.323 1.000 0.677 0.627 0.673 0.563 . 5.480 5.480 9.968 1.176 0.676 1.000 1.000 0.999 180 Cyclic_nucleotide-binding_domain . . ID=COSV57789775;OCCURENCE=3(large_intestine),1(upper_aerodigestive_tract) KCNH3 49 0 176 37 0.173708920187793 TRUE TRUE ENSG00000135476.12 . BCM GRCh38.p13 chr12 53289504 53289504 + C C T Missense_Mutation SNP ENST00000257934.9 exon22 c.C5023T p.R1675C exonic ENSG00000135476.12 . nonsynonymous SNV ENSG00000135476.12:ENST00000257934.9:exon22:c.C5023T:p.R1675C 12q13.13 C3L-02109 . . . . . . . . . 5.20 T D B B N D L T D 0.128 T T T 0.104 0.448 0.273 1.076 T T T T D T 2.206 20.900 0.993 D N -0.342 1.514 -0.178 1.839 1.000 0.722 0.725 0.725 0.735 . 5.260 4.370 0.227 1.022 0.596 0.349 0.954 0.977 696 . . . ID=COSV57761590;OCCURENCE=1(stomach) ESPL1 155 0 350 56 0.137931034482759 TRUE TRUE ENSG00000069869.16 . BCM GRCh38.p13 chr15 55830555 55830555 + T T - Frame_Shift_Del NA ENST00000508342.5 exon24 c.3816delA p.E1272Dfs*64 exonic ENSG00000069869.16 . frameshift deletion ENSG00000069869.16:ENST00000508342.5:exon24:c.3816delA:p.E1272Dfs*64 15q21.3 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEDD4 225 0 377 37 0.0893719806763285 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673776 7673776 + G G A Missense_Mutation SNP ENST00000269305.8 exon8 c.C844T p.R282W exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.C844T:p.R282W 17p13.1 C3L-02109 1.659e-05 0 0 0 0 3.014e-05 0 0 rs28934574 19.20 D D D D D A M D D 0.932 D D D 0.896 . 0.980 0.392 T D D D D D 4.401 31 0.999 D D 0.395 4.315 0.222 3.292 0.203 0.722 0.702 0.725 0.735 . 4.750 1.490 4.023 1.172 0.672 1.000 0.519 0.997 432 p53,_DNA-binding_domain . . ID=COSV52662048;OCCURENCE=1(salivary_gland),52(breast),2(peritoneum),6(liver),92(oesophagus),1(cervix),279(large_intestine),54(central_nervous_system),12(biliary_tract),1(pleura),6(vulva),25(ovary),3(bone),2(NS),20(haematopoietic_and_lymphoid_tissue),64(stomach),5(kidney),3(soft_tissue),22(urinary_tract),48(pancreas),21(skin),21(prostate),38(lung),6(thyroid),78(upper_aerodigestive_tract),3(thymus),3(small_intestine),13(endometrium) TP53 500 0 924 161 0.148387096774194 TRUE TRUE ENSG00000141750.7 . BCM GRCh38.p13 chr17 39213557 39213557 + G G A Missense_Mutation SNP ENST00000333461.6 exon9 c.C943T p.P315S exonic ENSG00000141750.7 . nonsynonymous SNV ENSG00000141750.7:ENST00000333461.6:exon9:c.C943T:p.P315S 17q12 C3L-02109 . . . . . . . . . 11.20 D T D D D D L T D 0.674 T T D 0.409 0.355 0.812 0.572 T T T T D D 4.767 33 0.999 D D 0.743 7.763 0.718 8.094 1.000 0.696 0.590 0.723 0.542 . 4.870 4.870 8.438 1.083 0.671 1.000 0.998 0.934 591 Stac2,_SH3_domain;SH3_domain . . . STAC2 149 0 294 48 0.140350877192982 TRUE TRUE ENSG00000167914.12 . BCM GRCh38.p13 chr17 39974949 39974949 + C C G Missense_Mutation SNP ENST00000301659.9 exon10 c.C956G p.P319R exonic ENSG00000167914.12 . nonsynonymous SNV ENSG00000167914.12:ENST00000301659.9:exon10:c.C956G:p.P319R 17q21.1 C3L-02109 . . . . . . . . . 5.20 T D D P D N N T N 0.637 T T T 0.228 0.509 0.370 0.435 T T T T D T 3.211 23.900 0.993 D N 0.115 2.945 0.106 2.761 1.000 0.447 0.547 0.547 0.530 . 6.030 5.060 3.599 1.026 0.599 0.993 0.855 0.291 269 . . . . GSDMA 140 0 302 54 0.151685393258427 TRUE TRUE ENSG00000141447.18 . BCM GRCh38.p13 chr18 24172393 24172393 + - NA ACATTGCCAT Frame_Shift_Ins INS ENST00000319481.8 exon22 c.2183_2184insATGGCAATGT p.E729Wfs*19 exonic ENSG00000141447.18 . frameshift insertion ENSG00000141447.18:ENST00000319481.8:exon22:c.2183_2184insATGGCAATGT:p.E729Wfs*19 18q11.2 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OSBPL1A NA NA NA NA NA NA NA ENSG00000125735.10 . BCM GRCh38.p13 chr19 6665150 6665150 + A A G Missense_Mutation SNP ENST00000599359.1 exon5 c.T499C p.Y167H exonic ENSG00000125735.10 . nonsynonymous SNV ENSG00000125735.10:ENST00000599359.1:exon5:c.T499C:p.Y167H 19p13.3 C3L-02109 . . . . . . . . . 15.18 . D D D N D M D . 0.301 D D D 0.747 0.684 0.941 1.237 T D D D D T 3.839 26.000 0.998 D D 0.557 5.508 0.502 5.173 0.999 0.461 0.577 0.573 0.613 . 4.500 4.500 2.932 1.202 0.751 0.965 0.996 0.933 940 Tumour_necrosis_factor_domain . . . TNFSF14 91 0 307 41 0.117816091954023 TRUE TRUE ENSG00000181143.15 . BCM GRCh38.p13 chr19 8856003 8856003 + G G A Missense_Mutation SNP ENST00000397910.8 exon81 c.C43274T p.T14425I exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon81:c.C43274T:p.T14425I 19p13.2 C3L-02109 . . . . . . . . . 6.15 D D . . . N . T D 0.372 T T D 0.270 . 0.158 . T . T T D T 2.807 23.000 0.999 D N 0.411 4.415 0.330 3.896 0.000 0.554 0.574 0.602 0.564 . 4.220 3.170 1.028 1.146 0.674 0.998 0.992 0.956 958 SEA_domain . . . MUC16 183 0 332 69 0.172069825436409 TRUE TRUE ENSG00000243137.8 . BCM GRCh38.p13 chr19 43193386 43193386 + A A T Missense_Mutation SNP ENST00000405312.8 exon6 c.T1246A p.W416R exonic ENSG00000243137.8 . nonsynonymous SNV ENSG00000243137.8:ENST00000405312.8:exon6:c.T1246A:p.W416R 19q13.31 C3L-02109 . . . . . . . . . 0.19 T T B B . N N T N 0.210 T T T 0.013 0.383 0.095 0.005 T T T T T T 1.223 13.810 0.260 N N -1.269 0.183 -1.358 0.174 0.000 0.487 0.574 0.547 0.564 . 0.100 0.100 0.200 0.228 0.229 0.257 0.340 0.329 809 . . . . PSG4 353 0 479 55 0.102996254681648 NA TRUE ENSG00000243137.8 . BCM GRCh38.p13 chr19 43194394 43194394 + G G A Missense_Mutation SNP ENST00000405312.8 exon5 c.C1189T p.R397C exonic ENSG00000243137.8 . nonsynonymous SNV ENSG00000243137.8:ENST00000405312.8:exon5:c.C1189T:p.R397C 19q13.31 C3L-02109 1.648e-05 0.0002 0 0 0 0 0 0 rs138668740 8.19 D D D D . N M T D 0.114 T T T 0.026 . 0.175 0.023 T T T T D D 1.941 18.810 0.996 N N -0.289 1.640 -0.647 0.977 0.000 0.554 0.574 0.547 0.621 . 1.180 -0.485 -0.119 0.624 0.240 0.000 0.001 0.014 814 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV54937332;OCCURENCE=1(NS),1(skin) PSG4 288 0 445 51 0.102822580645161 NA TRUE ENSG00000124089.4 . BCM GRCh38.p13 chr20 56249398 56249398 + C C A Missense_Mutation SNP ENST00000243911.2 exon1 c.C555A p.S185R exonic ENSG00000124089.4 . nonsynonymous SNV ENSG00000124089.4:ENST00000243911.2:exon1:c.C555A:p.S185R 20q13.2 C3L-02109 . . . . . . . . . 11.18 D T . . D D M T D 0.835 T T T 0.256 . 0.752 0.709 T T D D D D 3.115 23.700 0.998 D D 0.540 5.366 0.502 5.173 1.000 0.526 0.616 0.596 0.584 . 5.370 4.430 3.133 1.026 0.599 1.000 1.000 0.995 982 GPCR,_rhodopsin-like,_7TM . . . MC3R 439 0 911 134 0.12822966507177 TRUE TRUE ENSG00000089472.16 . BCM GRCh38.p13 chrX 66172549 66172549 + G G T Missense_Mutation SNP ENST00000343002.6 exon2 c.G362T p.R121L exonic ENSG00000089472.16 . nonsynonymous SNV ENSG00000089472.16:ENST00000343002.6:exon2:c.G362T:p.R121L Xq12 C3L-02109 . . . . . . . . . 18.19 D D D D D D M D D 0.795 D D D 0.944 0.606 0.655 0.502 T D D D D D 3.958 26.700 0.999 D . . . . . 1.000 . . . . . 4.830 4.830 9.893 1.176 0.676 1.000 0.990 0.995 728 Multicopper_oxidase,_type_3 . . ID=COSV100294341;OCCURENCE=1(stomach) HEPH 75 0 189 28 0.129032258064516 TRUE NA ENSG00000102081.15 . BCM GRCh38.p13 chrX 147948803 147948803 + A A G Missense_Mutation SNP ENST00000370475.9 exon17 c.A1858G p.S620G exonic ENSG00000102081.15 . nonsynonymous SNV ENSG00000102081.15:ENST00000370475.9:exon17:c.A1858G:p.S620G Xq27.3 C3L-02109 . . . . . . . . . 2.19 T T B B N D N T N 0.136 T T T 0.075 0.068 0.618 0.812 T T T T T D 1.590 16.310 0.970 N . . . . . 0.019 . . . . . 5.610 1.960 1.791 0.325 0.756 1.000 0.996 0.995 728 Fragile_X-related_mental_retardation_protein,_C-terminal_region_2 . . . FMR1 262 0 503 81 0.138698630136986 TRUE TRUE ENSG00000124334.17 . BCM GRCh38.p13 chrX 156005428 156005428 + C C T Nonsense_Mutation SNP ENST00000244174.10 exon6 c.C730T p.Q244X exonic ENSG00000124334.17 . stopgain ENSG00000124334.17:ENST00000244174.10:exon6:c.C730T:p.Q244X Xq28 C3L-02109 . . . . . . . . . 3.5 . . . . N A . . . . . . . . . . . . . D D . . 6.705 36 0.986 N . . . . . 0.989 . . . . . 1.290 1.290 1.720 0.687 0.450 0.884 0.334 0.135 . Fibronectin_type_III;Short_hematopoietin_receptor,_family_1,_conserved_site . . . IL9R 367 0 767 85 0.0997652582159624 TRUE TRUE ENSG00000070759.17 . BCM GRCh38.p13 chr1 45344894 45344894 + G G C Silent SNP ENST00000372086.4 exon11 c.C1662G p.A554A exonic ENSG00000070759.17 . synonymous SNV ENSG00000070759.17:ENST00000372086.4:exon11:c.C1662G:p.A554A 1p34.1 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TESK2 136 0 289 43 0.129518072289157 TRUE TRUE ENSG00000152990.14 . BCM GRCh38.p13 chr4 22388758 22388758 + A A G Silent SNP ENST00000334304.10 exon19 c.T2913C p.N971N exonic ENSG00000152990.14 . synonymous SNV ENSG00000152990.14:ENST00000334304.10:exon19:c.T2913C:p.N971N 4p15.2 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRA3 325 1 608 68 0.100591715976331 TRUE TRUE ENSG00000146090.16 . BCM GRCh38.p13 chr5 180137668 180137668 + G G A Silent SNP ENST00000361132.9 exon3 c.C222T p.I74I exonic ENSG00000146090.16 . synonymous SNV ENSG00000146090.16:ENST00000361132.9:exon3:c.C222T:p.I74I 5q35.3 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASGEF1C 228 1 621 105 0.144628099173554 TRUE NA ENSG00000133116.8 . BCM GRCh38.p13 chr13 33016503 33016503 + G G A Silent SNP ENST00000380099.4 exon1 c.G63A p.L21L exonic ENSG00000133116.8 . synonymous SNV ENSG00000133116.8:ENST00000380099.4:exon1:c.G63A:p.L21L 13q13.1 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KL 26 0 64 13 0.168831168831169 TRUE TRUE ENSG00000125124.12 . BCM GRCh38.p13 chr16 56502355 56502355 + G G A Silent SNP ENST00000245157.10 exon9 c.C1042T p.L348L exonic ENSG00000125124.12 . synonymous SNV ENSG00000125124.12:ENST00000245157.10:exon9:c.C1042T:p.L348L 16q13 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BBS2 459 0 844 139 0.141403865717192 TRUE NA ENSG00000011332.19 . BCM GRCh38.p13 chr19 38216249 38216249 + C C T Silent SNP ENST00000420980.6 exon8 c.G738A p.A246A exonic ENSG00000011332.19 . synonymous SNV ENSG00000011332.19:ENST00000420980.6:exon8:c.G738A:p.A246A 19q13.2 C3L-02109 0.0001 0.0011 0.0002 0 0 4.524e-05 0 6.124e-05 rs148078050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPF1 68 0 163 25 0.132978723404255 TRUE NA ENSG00000197380.11 . BCM GRCh38.p13 chr19 46649466 46649466 + C C T Silent SNP ENST00000391916.7 exon4 c.G906A p.A302A exonic ENSG00000197380.11 . synonymous SNV ENSG00000197380.11:ENST00000391916.7:exon4:c.G906A:p.A302A 19q13.32 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DACT3 22 0 100 19 0.159663865546218 TRUE TRUE ENSG00000197586.13 . BCM GRCh38.p13 chr20 25225540 25225540 + G G A Silent SNP ENST00000376652.9 exon15 c.G1398A p.L466L exonic ENSG00000197586.13 . synonymous SNV ENSG00000197586.13:ENST00000376652.9:exon15:c.G1398A:p.L466L 20p11.21 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENTPD6 83 0 172 26 0.131313131313131 TRUE TRUE ENSG00000100053.10 . BCM GRCh38.p13 chr22 25202715 25202715 + C C T Silent SNP ENST00000215855.7 exon3 c.C117T p.C39C exonic ENSG00000100053.10 . synonymous SNV ENSG00000100053.10:ENST00000215855.7:exon3:c.C117T:p.C39C 22q11.23 C3L-02109 8.3e-06 0 0 0 0 1.513e-05 0 0 rs764774270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53194520;OCCURENCE=1(breast) CRYBB3 498 0 1064 124 0.104377104377104 TRUE TRUE ENSG00000165370.2 . BCM GRCh38.p13 chrX 137031582 137031582 + G G T Silent SNP ENST00000651716.1 exon2 c.C93A p.G31G exonic ENSG00000165370.2 . synonymous SNV ENSG00000165370.2:ENST00000651716.1:exon2:c.C93A:p.G31G Xq26.3 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR101 118 0 193 27 0.122727272727273 TRUE TRUE ENSG00000126890.13 . BCM GRCh38.p13 chrX 154653405 154653405 + C C T Silent SNP ENST00000247306.4 exon1 c.G111A p.A37A exonic ENSG00000126890.13 . synonymous SNV ENSG00000126890.13:ENST00000247306.4:exon1:c.G111A:p.A37A Xq28 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55996300;OCCURENCE=1(oesophagus) CTAG2 106 0 345 40 0.103896103896104 NA TRUE ENSG00000198169.9 . BCM GRCh38.p13 chr8 144753658 144753658 + G G A Intron SNP NA NA NA NA intronic ENSG00000198169.9 . . . 8q24.3 C3L-02109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF251 79 0 199 22 0.0995475113122172 TRUE NA ENSG00000165406.16 . BCM GRCh38.p13 chr10 45463670 45463670 + G G A Intron SNP NA NA NA NA intronic ENSG00000165406.16 . . . 10q11.21 C3L-02109 . . . . . . . . rs564144489 0.9 . T . . . N . . . 0.113 . . T . . 0.344 . T . T T . T 1.007 11.720 0.713 N N . . . . 1.000 0.493 0.587 0.602 0.492 . 5.510 1.340 1.611 0.227 -0.119 0.945 0.038 0.031 824 . . . . MARCHF8 277 0 389 57 0.12780269058296 TRUE NA ENSG00000129514.8 . BCM GRCh38.p13 chr14 37622851 37622851 + G G A IGR SNP NA NA NA NA intergenic ENSG00000129514.8;ENSG00000200385.1 dist=27602;dist=97574 . . 14q21.1 C3L-02109 . . . . . . . . . 1.14 T T . . N . . T N 0.105 T T D 0.055 0.312 0.298 0.032 . T T T T T -0.042 1.092 0.984 N . -0.842 0.596 -0.974 0.522 1.000 0.623 0.574 0.378 0.555 . 3.980 -0.812 -0.757 1.071 0.526 0.000 0.001 0.004 682 . . . ID=COSV101606840;OCCURENCE=1(stomach) FOXA1 113 1 259 32 0.109965635738832 TRUE TRUE ENSG00000252608.1 . BCM GRCh38.p13 chr16 81149863 81149863 + G G A IGR SNP NA NA NA NA intergenic ENSG00000252608.1;ENSG00000286759.1 dist=43224;dist=1957 . . 16q23.2 C3L-02109 0.0058 0.0649 0.0023 0 0 0.0002 0.0060 0 rs16954775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNU6-1191P 39 0 136 27 0.165644171779141 TRUE NA ENSG00000116922.14 . BCM GRCh38.p13 chr1 37683345 37683345 + T T C Missense_Mutation SNP ENST00000358011.8 exon4 c.A548G p.K183R exonic ENSG00000116922.14 . nonsynonymous SNV ENSG00000116922.14:ENST00000358011.8:exon4:c.A548G:p.K183R 1p34.3 C3L-03630 8.238e-06 0 8.639e-05 0 0 0 0 0 rs758937443 2.17 T T B B N N . . N 0.151 T T T 0.087 0.229 0.531 0.324 . T T T D T 2.442 22.200 0.991 D N -0.366 1.460 -0.178 1.838 0.989 0.707 0.654 0.725 0.636 . 5.280 4.140 3.502 1.127 0.651 1.000 0.904 0.988 884 . . . . C1orf109 177 0 312 49 0.135734072022161 TRUE NA ENSG00000178965.14 . BCM GRCh38.p13 chr1 74572531 74572531 + C C T Missense_Mutation SNP ENST00000326665.10 exon14 c.G3179A p.R1060Q exonic ENSG00000178965.14 . nonsynonymous SNV ENSG00000178965.14:ENST00000326665.10:exon14:c.G3179A:p.R1060Q 1p31.1 C3L-03630 8.239e-06 0 0 0 0 0 0 6.057e-05 rs779101589 0.18 T T P B . N L T N 0.202 T T T 0.030 0.292 0.088 0.036 . T T T T T 1.039 12.100 0.888 N N -0.837 0.602 -0.976 0.520 0.000 0.549 0.627 0.547 0.564 . 4.060 -0.351 -0.409 -0.612 0.524 0.000 0.000 0.004 713 . . . ID=COSV58605623;OCCURENCE=2(NS),2(skin),1(upper_aerodigestive_tract) ERICH3 233 0 380 53 0.122401847575058 TRUE TRUE ENSG00000198626.17 . BCM GRCh38.p13 chr1 237633630 237633630 + T T G Missense_Mutation SNP ENST00000366574.7 exon43 c.T6608G p.F2203C exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon43:c.T6608G:p.F2203C 1q43 C3L-03630 . . . . . . . . . 19.19 D . D D D D M D D 0.948 D D D 0.964 0.810 0.934 1.395 D D D D D D 4.339 29.900 0.993 D D 0.769 8.198 0.721 8.154 1.000 0.554 0.574 0.602 0.564 . 4.900 4.900 7.971 1.138 0.665 1.000 1.000 0.998 911 RIH_domain . . . RYR2 143 0 221 30 0.119521912350598 TRUE TRUE ENSG00000169618.7 . BCM GRCh38.p13 chr2 68655496 68655496 + G G A Missense_Mutation SNP ENST00000303786.5 exon3 c.G1102A p.G368S exonic ENSG00000169618.7 . nonsynonymous SNV ENSG00000169618.7:ENST00000303786.5:exon3:c.G1102A:p.G368S 2p13.3 C3L-03630 8.255e-06 0 0 0 0 0 0 6.066e-05 rs748147832 0.20 T T B B N N N T N 0.150 T T T 0.136 0.382 0.738 0.154 T T T T T T 0.668 8.155 0.183 N N -0.933 0.479 -0.732 0.854 0.806 0.615 0.590 0.659 0.530 . 4.420 3.300 3.478 -0.904 -0.174 0.977 0.000 0.001 867 . . . ID=COSV100375851;OCCURENCE=1(stomach) PROKR1 346 0 522 95 0.153970826580227 TRUE NA ENSG00000144029.12 . BCM GRCh38.p13 chr2 95090397 95090397 + G G A Missense_Mutation SNP ENST00000272418.7 exon11 c.C1057T p.L353F exonic ENSG00000144029.12 . nonsynonymous SNV ENSG00000144029.12:ENST00000272418.7:exon11:c.C1057T:p.L353F 2q11.1 C3L-03630 . . . . . . . . . 9.19 D T P P D D M . D 0.645 T T T 0.434 0.709 0.738 0.441 T T D D D T 3.339 24.200 0.998 D N 0.327 3.923 0.219 3.277 0.002 0.732 0.725 0.744 0.714 . 5.090 4.080 2.417 1.172 0.614 0.992 0.674 0.345 . Ribosomal_protein_S5,_C-terminal . . . MRPS5 162 0 282 54 0.160714285714286 TRUE TRUE ENSG00000163254.5 . BCM GRCh38.p13 chr2 208128225 208128225 + C C T Missense_Mutation SNP ENST00000282141.4 exon3 c.G503A p.R168Q exonic ENSG00000163254.5 . nonsynonymous SNV ENSG00000163254.5:ENST00000282141.4:exon3:c.G503A:p.R168Q 2q33.3 C3L-03630 8.24e-05 0 0 0 0 2.997e-05 0 0.0005 rs539234728 11.19 D D P B N D M D D 0.209 D D D 0.492 0.890 0.852 0.310 T D T T D . 1.841 18.030 0.999 N N 0.111 2.930 0.004 2.374 0.003 0.487 0.574 0.573 0.564 . 4.850 3.980 0.649 1.026 0.549 0.003 0.998 0.927 843 Beta/gamma_crystallin . . ID=COSV52205791;OCCURENCE=1(large_intestine) CRYGC 267 0 430 63 0.127789046653144 TRUE TRUE ENSG00000144736.14 . BCM GRCh38.p13 chr3 72824455 72824455 + C C A Missense_Mutation SNP ENST00000325599.13 exon6 c.G696T p.K232N exonic ENSG00000144736.14 . nonsynonymous SNV ENSG00000144736.14:ENST00000325599.13:exon6:c.G696T:p.K232N 3p13 C3L-03630 . . . . . . . . . 1.20 T T B B N D L T N 0.082 T T T 0.085 0.490 0.253 0.068 T T T T T T 0.898 10.420 0.985 N N -0.589 1.007 -0.514 1.180 0.998 0.732 0.744 0.710 0.613 . 5.610 3.770 -0.163 1.026 0.599 0.000 0.914 0.539 788 . . . ID=COSV57764869;OCCURENCE=1(endometrium) SHQ1 366 2 581 94 0.139259259259259 TRUE TRUE ENSG00000114487.10 . BCM GRCh38.p13 chr3 109095052 109095052 + G G A Missense_Mutation SNP ENST00000232603.10 exon7 c.C440T p.P147L exonic ENSG00000114487.10 . nonsynonymous SNV ENSG00000114487.10:ENST00000232603.10:exon7:c.C440T:p.P147L 3q13.13 C3L-03630 . . . . . . . . . 9.20 T T P P D D L T D 0.685 T T D 0.295 0.417 0.628 0.673 T D T T D D 4.026 27.200 0.997 D D 0.452 4.686 0.520 5.351 0.993 0.487 0.574 0.574 0.564 . 5.430 5.430 8.294 1.155 0.676 1.000 0.999 0.977 892 . . . ID=COSV99225584;OCCURENCE=1(lung) MORC1 207 1 402 52 0.114537444933921 TRUE TRUE ENSG00000173226.17 . BCM GRCh38.p13 chr3 121807399 121807399 + C C T Missense_Mutation SNP ENST00000310864.11 exon7 c.G532A p.V178I exonic ENSG00000173226.17 . nonsynonymous SNV ENSG00000173226.17:ENST00000310864.11:exon7:c.G532A:p.V178I 3q13.33 C3L-03630 . . . . . . . . . 1.20 T T B B N N L T N 0.279 T T T 0.017 0.271 0.307 0.068 T T T T T T 1.571 16.190 0.992 D N -0.348 1.499 -0.148 1.915 0.418 0.732 0.744 0.659 0.684 . 5.440 3.620 1.194 0.966 0.530 1.000 0.999 0.978 635 . . . . IQCB1 176 1 287 34 0.105919003115265 TRUE NA ENSG00000161202.20 . BCM GRCh38.p13 chr3 184168021 184168021 + C C T Missense_Mutation SNP ENST00000313143.9 exon13 c.C1454T p.T485I exonic ENSG00000161202.20 . nonsynonymous SNV ENSG00000161202.20:ENST00000313143.9:exon13:c.C1454T:p.T485I 3q27.1 C3L-03630 . . . . . . . . . 17.20 D D D D D D M T D 0.961 T T D 0.507 0.614 0.560 1.776 D D D D D D 3.891 26.300 0.999 D D 0.984 13.431 0.930 15.086 1.000 0.707 0.725 0.723 0.711 . 5.640 5.640 7.905 1.026 0.599 1.000 1.000 0.999 862 DEP_domain . . . DVL3 421 0 622 91 0.127629733520337 TRUE TRUE ENSG00000152795.17 . BCM GRCh38.p13 chr4 82426093 82426093 + C C T Missense_Mutation SNP ENST00000621267.4 exon7 c.G1229A p.G410D exonic ENSG00000152795.17 . nonsynonymous SNV ENSG00000152795.17:ENST00000621267.4:exon7:c.G1229A:p.G410D 4q21.22 C3L-03630 . . . . . . . . . 16.20 D D B B D D M D D 0.716 D D D 0.650 0.445 0.838 1.568 T T D D D D 3.063 23.500 0.997 D D 0.233 3.450 0.353 4.041 1.000 0.722 0.663 0.699 0.735 . 5.770 4.930 4.545 1.011 0.599 1.000 1.000 0.998 910 . . . . HNRNPDL 234 0 483 44 0.0834914611005693 TRUE TRUE ENSG00000145555.15 . BCM GRCh38.p13 chr5 16701414 16701414 + T T C Missense_Mutation SNP ENST00000513610.6 exon25 c.A2981G p.D994G exonic ENSG00000145555.15 . nonsynonymous SNV ENSG00000145555.15:ENST00000513610.6:exon25:c.A2981G:p.D994G 5p15.1 C3L-03630 . . . . . . . . . 17.19 D D D D . D M D D 0.792 D D D 0.586 0.214 0.880 0.835 T T D D D D 4.189 28.600 0.998 D D 0.415 4.438 0.378 4.209 1.000 0.722 0.574 0.696 0.735 . 4.800 4.800 8.017 1.138 0.665 1.000 0.994 0.457 809 . . . . MYO10 381 0 546 96 0.149532710280374 TRUE TRUE ENSG00000112964.14 . BCM GRCh38.p13 chr5 42699919 42699919 + C C T Missense_Mutation SNP ENST00000230882.9 exon6 c.C535T p.R179C exonic ENSG00000112964.14 . nonsynonymous SNV ENSG00000112964.14:ENST00000230882.9:exon6:c.C535T:p.R179C 5p12 C3L-03630 0.0041 0.0012 0.0021 0 0.0023 0.0059 0.0077 0.0027 rs121909362 11.20 D D P B D A L D N 0.724 D D D 0.609 . 0.981 0.061 T T T D T T 1.803 17.750 0.995 D D -0.034 2.391 0.012 2.401 0.001 0.554 0.588 0.618 0.564 . 5.910 3.190 1.304 -0.241 -0.194 0.592 0.983 0.982 495 Fibronectin_type_III;Long_hematopoietin_receptor,_single_chain,_conserved_site . . ID=COSV99039086;OCCURENCE=2(lung) GHR 387 0 669 73 0.0983827493261455 TRUE NA ENSG00000113296.14 . BCM GRCh38.p13 chr5 80071145 80071145 + G G A Missense_Mutation SNP ENST00000350881.6 exon13 c.G1685A p.R562K exonic ENSG00000113296.14 . nonsynonymous SNV ENSG00000113296.14:ENST00000350881.6:exon13:c.G1685A:p.R562K 5q14.1 C3L-03630 . . . . . . . . . 4.20 T T B B N N N D N 0.205 D D D 0.317 0.395 0.530 0.254 T T T T T T -0.116 0.768 0.793 N N -1.270 0.182 -1.235 0.255 1.000 0.706 0.593 0.710 0.564 . 5.230 -2.850 -0.051 -0.068 -0.116 0.010 0.969 0.924 627 . . . . THBS4 71 0 136 9 0.0620689655172414 TRUE TRUE ENSG00000145808.10 . BCM GRCh38.p13 chr5 129509182 129509182 + A A G Missense_Mutation SNP ENST00000274487.9 exon3 c.A853G p.M285V exonic ENSG00000145808.10 . nonsynonymous SNV ENSG00000145808.10:ENST00000274487.9:exon3:c.A853G:p.M285V 5q23.3 C3L-03630 . . . . . . . . rs1045960086 0.16 . . B B N N N . . . T T T 0.089 0.242 0.400 0.172 T T T T T T -0.437 0.161 0.608 N N -1.215 0.217 -1.220 0.267 0.068 0.693 0.574 0.659 0.564 . 4.420 -4.990 -0.625 1.312 0.756 0.004 0.995 0.960 725 . . . . ADAMTS19 222 0 332 47 0.12401055408971 TRUE NA ENSG00000204498.11 . BCM GRCh38.p13 chr6 31558438 31558438 + G G T Nonsense_Mutation SNP ENST00000376148.9 exon4 c.G973T p.E325X exonic ENSG00000204498.11 . stopgain ENSG00000204498.11:ENST00000376148.9:exon4:c.G973T:p.E325X 6p21.33 C3L-03630 . . . . . . . . . 4.6 . . . . N D . . . 0.895 . . . . . . . . . D D . . 8.040 40 0.996 D N 0.981 13.343 0.834 11.210 1.000 0.732 0.672 0.744 0.662 . 6.080 5.040 3.640 1.176 0.676 1.000 0.971 0.701 934 . . . . NFKBIL1 134 0 285 130 0.313253012048193 TRUE TRUE ENSG00000237649.8 . BCM GRCh38.p13 chr6 33406199 33406199 + G G A Missense_Mutation SNP ENST00000428849.7 exon8 c.G1540A p.D514N exonic ENSG00000237649.8 . nonsynonymous SNV ENSG00000237649.8:ENST00000428849.7:exon8:c.G1540A:p.D514N 6p21.32 C3L-03630 . . . . . . . . . 1.19 T T B B N N N T N 0.125 T T T 0.144 0.512 0.776 0.377 T T T T T . 0.777 9.167 0.987 D N -0.590 1.007 -0.462 1.265 1.000 0.732 0.702 0.702 0.728 . 4.250 3.350 0.457 0.213 -0.113 0.526 0.139 0.001 365 Kinesin_motor_domain . . . KIFC1 86 0 150 17 0.101796407185629 TRUE TRUE ENSG00000188112.9 . BCM GRCh38.p13 chr6 42105199 42105199 + C C A Missense_Mutation SNP ENST00000341865.9 exon4 c.G2713T p.D905Y exonic ENSG00000188112.9 . nonsynonymous SNV ENSG00000188112.9:ENST00000341865.9:exon4:c.G2713T:p.D905Y 6p21.1 C3L-03630 . . . . . . . . . 5.16 D D . . . N L T D 0.203 T T D 0.060 0.148 0.192 . . T T T D T 2.671 22.800 0.981 N N -0.552 1.077 -0.617 1.021 1.000 0.598 0.596 0.269 0.563 . 4.680 2.800 0.185 0.113 0.529 0.005 0.042 0.113 921 . . . . C6orf132 243 1 738 193 0.207303974221267 TRUE TRUE ENSG00000188112.9 . BCM GRCh38.p13 chr6 42105205 42105205 + C C T Missense_Mutation SNP ENST00000341865.9 exon4 c.G2707A p.E903K exonic ENSG00000188112.9 . nonsynonymous SNV ENSG00000188112.9:ENST00000341865.9:exon4:c.G2707A:p.E903K 6p21.1 C3L-03630 . . . . . . . . . 2.16 T T . . . N N T N 0.071 T T D 0.014 0.156 0.048 . . T T T D T 1.116 12.920 0.990 N N -0.581 1.023 -0.664 0.952 1.000 0.598 0.596 0.269 0.563 . 4.680 2.660 0.313 1.002 0.529 0.000 0.016 0.085 922 . . . . C6orf132 259 0 772 213 0.216243654822335 TRUE TRUE ENSG00000188112.9 . BCM GRCh38.p13 chr6 42105517 42105517 + C C T Missense_Mutation SNP ENST00000341865.9 exon4 c.G2395A p.E799K exonic ENSG00000188112.9 . nonsynonymous SNV ENSG00000188112.9:ENST00000341865.9:exon4:c.G2395A:p.E799K 6p21.1 C3L-03630 . . . . . . . . . 0.16 T T . . . N N T N 0.045 T T T 0.032 0.214 0.030 . . T T T T T 1.153 13.250 0.963 N N -0.549 1.082 -0.636 0.993 1.000 0.632 0.563 0.780 0.563 . 4.240 3.370 1.088 1.010 0.580 0.002 0.004 0.019 922 . . . . C6orf132 147 0 371 145 0.281007751937984 TRUE TRUE ENSG00000188112.9 . BCM GRCh38.p13 chr6 42105909 42105909 + C C G Missense_Mutation SNP ENST00000341865.9 exon4 c.G2003C p.G668A exonic ENSG00000188112.9 . nonsynonymous SNV ENSG00000188112.9:ENST00000341865.9:exon4:c.G2003C:p.G668A 6p21.1 C3L-03630 . . . . . . . . . 2.16 D T . . . N L T D 0.103 T T T 0.057 0.155 0.014 . . T T T T T 0.904 10.470 0.974 N N -0.859 0.573 -0.962 0.537 0.999 0.696 0.563 0.723 0.605 . 3.340 1.490 -0.718 0.008 0.490 0.000 0.003 0.002 923 . . . . C6orf132 689 0 1743 594 0.254172015404365 TRUE TRUE ENSG00000188112.9 . BCM GRCh38.p13 chr6 42106093 42106093 + C C T Missense_Mutation SNP ENST00000341865.9 exon4 c.G1819A p.D607N exonic ENSG00000188112.9 . nonsynonymous SNV ENSG00000188112.9:ENST00000341865.9:exon4:c.G1819A:p.D607N 6p21.1 C3L-03630 . . . . . . . . . 0.16 T T . . . N N T N 0.042 T T T 0.057 0.121 0.040 . . T T T T T -0.605 0.071 0.107 N N -1.122 0.287 -1.180 0.300 0.959 0.696 0.563 0.723 0.605 . 4.430 0.292 -0.957 -0.643 -0.722 0.000 0.060 0.237 923 . . . . C6orf132 442 0 1267 202 0.137508509189925 TRUE TRUE ENSG00000188112.9 . BCM GRCh38.p13 chr6 42106096 42106096 + C C T Missense_Mutation SNP ENST00000341865.9 exon4 c.G1816A p.D606N exonic ENSG00000188112.9 . nonsynonymous SNV ENSG00000188112.9:ENST00000341865.9:exon4:c.G1816A:p.D606N 6p21.1 C3L-03630 . . . . . . . . . 1.16 D T . . . N L T N 0.058 T T T 0.047 0.118 0.030 . . T T T T T 0.757 8.979 0.993 N N -0.635 0.925 -0.716 0.876 0.995 0.696 0.563 0.723 0.605 . 4.850 3.070 0.375 1.010 0.580 0.000 0.046 0.240 923 . . . . C6orf132 445 1 1283 197 0.133108108108108 TRUE TRUE ENSG00000135298.14 . BCM GRCh38.p13 chr6 69324920 69324920 + T T A Missense_Mutation SNP ENST00000370598.6 exon21 c.T2863A p.S955T exonic ENSG00000135298.14 . nonsynonymous SNV ENSG00000135298.14:ENST00000370598.6:exon21:c.T2863A:p.S955T 6q13 C3L-03630 . . . . . . . . . 13.19 D D D D D D . T D 0.657 T T T 0.351 0.831 0.365 2.082 D T D T D D 3.999 27.000 0.996 D D 0.677 6.803 0.726 8.274 1.000 0.554 0.574 0.618 0.564 . 6.070 6.070 7.991 1.138 0.665 1.000 1.000 0.989 680 GPCR,_family_2-like . . . ADGRB3 151 0 279 19 0.063758389261745 TRUE TRUE ENSG00000135541.21 . BCM GRCh38.p13 chr6 135466081 135466081 + G G A Missense_Mutation SNP ENST00000265602.11 exon7 c.C482T p.P161L exonic ENSG00000135541.21 . nonsynonymous SNV ENSG00000135541.21:ENST00000265602.11:exon7:c.C482T:p.P161L 6q23.3 C3L-03630 . . . . . . . . . 2.20 D T B B N N N T D 0.118 T T T 0.098 0.168 0.444 0.042 T T T T T T 0.812 9.515 0.650 N N -0.677 0.852 -0.691 0.913 1.000 0.693 0.634 0.659 0.636 . 5.860 3.150 2.197 1.175 0.676 0.026 0.026 0.006 692 . . . . AHI1 271 0 362 80 0.180995475113122 TRUE TRUE ENSG00000147419.19 . BCM GRCh38.p13 chr8 27736241 27736241 + C C T Missense_Mutation SNP ENST00000356537.9 exon9 c.G602A p.G201D exonic ENSG00000147419.19 . nonsynonymous SNV ENSG00000147419.19:ENST00000356537.9:exon9:c.G602A:p.G201D 8p21.1 C3L-03630 . . . . . . . . . 9.18 D T D P D D . . D 0.325 T T T 0.141 0.204 0.435 0.738 T T D D D T 2.935 23.300 0.998 D N 0.464 4.771 0.470 4.894 0.972 0.732 0.725 0.744 0.728 . 5.120 5.120 2.151 1.015 0.599 0.998 0.968 0.941 743 . . . . CCDC25 102 0 215 21 0.0889830508474576 TRUE TRUE ENSG00000091656.19 . BCM GRCh38.p13 chr8 76863765 76863765 + A A C Missense_Mutation SNP ENST00000651372.2 exon11 c.A10051C p.K3351Q exonic ENSG00000091656.19 . nonsynonymous SNV ENSG00000091656.19:ENST00000651372.2:exon11:c.A10051C:p.K3351Q 8q21.13 C3L-03630 . . . . . . . . . 3.16 T T . . U N . T N 0.320 T T T 0.063 0.178 0.139 0.189 T . T T D T 1.953 18.900 0.949 D D -0.322 1.560 -0.153 1.902 0.129 0.638 0.574 0.618 0.668 . 4.680 3.510 3.154 1.312 0.756 0.999 0.971 0.969 796 . . . . ZFHX4 365 0 546 71 0.115072933549433 TRUE TRUE ENSG00000185189.18 . BCM GRCh38.p13 chr8 143840182 143840182 + C C G Missense_Mutation SNP ENST00000442628.7 exon2 c.G177C p.M59I exonic ENSG00000185189.18 . nonsynonymous SNV ENSG00000185189.18:ENST00000442628.7:exon2:c.G177C:p.M59I 8q24.3 C3L-03630 . . . . . . . . . 17.19 D D D D . D M D D 0.464 D D D 0.663 0.544 0.918 0.737 T T D D D D 3.939 26.600 0.997 D D 0.579 5.714 0.505 5.203 1.000 0.767 0.587 0.851 0.658 . 3.510 3.510 7.303 1.008 0.529 1.000 1.000 0.993 940 Protein_kinase_domain . . . NRBP2 270 1 414 58 0.122881355932203 TRUE TRUE ENSG00000178209.15 . BCM GRCh38.p13 chr8 143916635 143916635 + C C T Missense_Mutation SNP ENST00000322810.8 exon32 c.G13597A p.G4533S exonic ENSG00000178209.15 . nonsynonymous SNV ENSG00000178209.15:ENST00000322810.8:exon32:c.G13597A:p.G4533S 8q24.3 C3L-03630 . . . . . . . . rs759155242 16.20 D D D D U D H D N 0.834 D D D 0.776 0.901 0.801 . T T D D D D 3.520 24.800 0.951 D D 0.892 10.854 0.790 9.826 1.000 0.707 0.702 0.723 0.714 . 5.190 5.190 6.037 1.026 0.589 1.000 0.039 0.257 970 . . . . PLEC 356 0 492 91 0.156089193825043 TRUE NA ENSG00000165271.17 . BCM GRCh38.p13 chr9 33469636 33469636 + T T G Missense_Mutation SNP ENST00000379471.3 exon5 c.A590C p.Q197P exonic ENSG00000165271.17 . nonsynonymous SNV ENSG00000165271.17:ENST00000379471.3:exon5:c.A590C:p.Q197P 9p13.3 C3L-03630 . . . . . . . . . 13.20 T D D P D D M T D 0.897 T T D 0.428 0.633 0.697 0.822 T T D D D D 3.905 26.400 0.993 D D 0.614 6.068 0.647 6.870 1.000 0.719 0.723 0.725 0.714 . 5.680 5.680 7.266 1.138 0.665 1.000 1.000 0.993 576 Nrap_protein_domain_1 . . . NOL6 183 0 337 41 0.108465608465608 TRUE TRUE ENSG00000010438.16 . BCM GRCh38.p13 chr9 33796663 33796663 + G G A Missense_Mutation SNP ENST00000361005.9 exon2 c.G232A p.D78N exonic ENSG00000010438.16 . nonsynonymous SNV ENSG00000010438.16:ENST00000361005.9:exon2:c.G232A:p.D78N 9p13.3 C3L-03630 . . . . . . . . . 12.20 D T P P D D N D D 0.489 D D D 0.359 0.458 0.879 0.301 T T T T D D 3.173 23.800 0.996 D D -0.156 2.003 -0.132 1.957 1.000 0.537 0.541 0.492 0.530 . 3.210 3.210 5.564 0.691 0.308 1.000 0.452 0.329 357 . . . . PRSS3 283 0 463 53 0.102713178294574 NA TRUE ENSG00000048828.17 . BCM GRCh38.p13 chr9 93561193 93561193 + G G A Missense_Mutation SNP ENST00000277165.11 exon16 c.G2891A p.R964H exonic ENSG00000048828.17 . nonsynonymous SNV ENSG00000048828.17:ENST00000277165.11:exon16:c.G2891A:p.R964H 9q22.31 C3L-03630 8.406e-06 0 8.787e-05 0 0 0 0 0 rs764432382 9.20 D D B B D D L T D 0.699 T T T 0.223 0.246 0.360 1.594 T T T T D D 3.724 25.500 0.999 D D 0.401 4.347 0.514 5.288 1.000 0.732 0.725 0.744 0.714 . 6.160 5.270 9.735 1.176 0.676 1.000 0.971 0.990 952 . . . . FAM120A 342 0 574 107 0.15712187958884 TRUE NA ENSG00000136861.18 . BCM GRCh38.p13 chr9 120527890 120527890 + T T G Missense_Mutation SNP ENST00000349780.9 exon10 c.A915C p.E305D exonic ENSG00000136861.18 . nonsynonymous SNV ENSG00000136861.18:ENST00000349780.9:exon10:c.A915C:p.E305D 9q33.2 C3L-03630 . . . . . . . . . 11.20 D D D D D D M T D 0.589 T T T 0.162 0.089 0.528 0.118 T T T T D D 3.349 24.300 0.996 D N 0.457 4.718 0.440 4.652 1.000 0.732 0.725 0.744 0.728 . 6.030 4.890 2.912 1.138 0.663 1.000 1.000 0.990 846 . . . ID=COSV62572192;OCCURENCE=1(endometrium) CDK5RAP2 257 0 525 61 0.104095563139932 TRUE TRUE ENSG00000160323.18 . BCM GRCh38.p13 chr9 133437862 133437876 + GGGACCCTGAGCCTG GGGACCCTGAGCCTG - In_Frame_Del DEL ENST00000371929.7 exon13 c.1549_1563del p.G517_L521del exonic ENSG00000160323.18 . nonframeshift deletion ENSG00000160323.18:ENST00000371929.7:exon13:c.1549_1563del:p.G517_L521del 9q34.2 C3L-03630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS13 831 0 1111 148 0.117553613979349 TRUE NA ENSG00000203791.15 . BCM GRCh38.p13 chr10 124762369 124762369 + G G C Nonsense_Mutation SNP ENST00000368836.7 exon6 c.C806G p.S269X exonic ENSG00000203791.15 . stopgain ENSG00000203791.15:ENST00000368836.7:exon6:c.C806G:p.S269X 10q26.13 C3L-03630 . . . . . . . . . 2.4 . . . . . . . . . 0.009 . . . . . . . . . D D . . 4.888 33 0.635 N N -0.243 1.759 -0.698 0.902 0.803 0.707 0.725 0.725 0.714 . 1.220 -1.310 0.806 0.576 -0.203 0.056 0.025 0.002 524 . . . . EEF1AKMT2 100 0 178 25 0.123152709359606 NA TRUE ENSG00000130640.13 . BCM GRCh38.p13 chr10 133285544 133285544 + C C T Missense_Mutation SNP ENST00000368563.6 exon12 c.G1807A p.A603T exonic ENSG00000130640.13 . nonsynonymous SNV ENSG00000130640.13:ENST00000368563.6:exon12:c.G1807A:p.A603T 10q26.3 C3L-03630 9.375e-06 0 0 0 0 1.641e-05 0 0 rs759006952 5.20 T T B B D D L T N 0.721 T T T 0.250 0.316 0.376 0.347 T T T T T D 2.177 20.700 0.998 D D -0.097 2.183 0.038 2.495 1.000 0.719 0.723 0.723 0.714 . 5.640 5.640 7.540 0.990 0.599 1.000 0.015 0.163 993 . . . . TUBGCP2 62 0 109 16 0.128 TRUE NA ENSG00000165917.10 . BCM GRCh38.p13 chr11 47448105 47448105 + C C T Missense_Mutation SNP ENST00000298854.7 exon2 c.G238A p.D80N exonic ENSG00000165917.10 . nonsynonymous SNV ENSG00000165917.10:ENST00000298854.7:exon2:c.G238A:p.D80N 11p11.2 C3L-03630 2.49e-05 0.0002 0 0 0 1.512e-05 0 0 rs781724566 2.20 T T B B N D L T N 0.196 T T T 0.033 0.585 0.633 0.156 T T T T T T 1.638 16.620 0.941 D N -0.711 0.794 -0.561 1.106 1.000 0.570 0.551 0.658 0.492 . 4.820 0.578 2.413 0.130 -0.176 0.975 0.971 0.789 19 Rapsyn,_myristoylation/linker_region,_N-terminal . . ID=COSV54084160;OCCURENCE=1(liver),1(large_intestine) RAPSN 297 0 559 71 0.112698412698413 TRUE TRUE ENSG00000170322.14 . BCM GRCh38.p13 chr11 129874170 129874170 + G G A Missense_Mutation SNP ENST00000446488.7 exon20 c.C2222T p.S741L exonic ENSG00000170322.14 . nonsynonymous SNV ENSG00000170322.14:ENST00000446488.7:exon20:c.C2222T:p.S741L 11q24.3 C3L-03630 5.422e-05 0.0002 0 0 0 6.248e-05 0 0 rs141128592 5.19 D D B B N N L . N 0.395 T T T 0.054 . 0.068 0.263 T T T T T D 2.881 23.200 0.997 D D -0.208 1.853 -0.086 2.088 1.000 0.707 0.725 0.725 0.714 . 5.560 5.560 5.230 1.176 0.676 0.943 0.506 0.880 824 . . . ID=COSV58757015;OCCURENCE=1(endometrium) NFRKB 17 0 24 3 0.111111111111111 TRUE TRUE ENSG00000120645.12 . BCM GRCh38.p13 chr12 174675 174675 + C C T Missense_Mutation SNP ENST00000538872.6 exon14 c.C3191T p.P1064L exonic ENSG00000120645.12 . nonsynonymous SNV ENSG00000120645.12:ENST00000538872.6:exon14:c.C3191T:p.P1064L 12p13.33 C3L-03630 1.054e-05 0 0 0 0 1.88e-05 0 0 rs747026524 0.20 T T B B U N L T N 0.077 T T T 0.031 0.250 0.123 0.394 T T T T T T -0.597 0.074 0.892 N N -1.253 0.192 -1.334 0.188 1.000 0.646 0.547 0.645 0.563 . 3.660 -4.420 -0.363 0.060 -0.315 0.000 0.017 0.068 940 . . . ID=COSV58290439;OCCURENCE=1(stomach) IQSEC3 109 0 160 37 0.187817258883249 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-03630 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 295 0 460 80 0.148148148148148 TRUE TRUE ENSG00000198598.6 . BCM GRCh38.p13 chr12 131849987 131849987 + G G A Missense_Mutation SNP ENST00000360564.5 exon9 c.G1390A p.G464S exonic ENSG00000198598.6 . nonsynonymous SNV ENSG00000198598.6:ENST00000360564.5:exon9:c.G1390A:p.G464S 12q24.33 C3L-03630 2.497e-05 0 0 0 0 3.041e-05 0.0011 0 rs779153151 15.20 D D D D D D M T D 0.779 T T D 0.539 0.437 0.712 0.764 T T D D D D 4.250 29.100 0.999 D D 0.809 8.967 0.758 8.987 1.000 0.706 0.588 0.723 0.613 . 4.920 4.920 7.931 1.083 0.618 1.000 0.998 0.991 982 Hemopexin-like_domain . . ID=COSV62179778;OCCURENCE=1(stomach) MMP17 347 0 611 47 0.0714285714285714 TRUE TRUE ENSG00000099814.16 . BCM GRCh38.p13 chr14 104886598 104886598 + A A G Missense_Mutation SNP ENST00000414716.8 exon12 c.A2359G p.R787G exonic ENSG00000099814.16 . nonsynonymous SNV ENSG00000099814.16:ENST00000414716.8:exon12:c.A2359G:p.R787G 14q32.33 C3L-03630 . . . . . . . . . 5.20 D T P B N N M T D 0.378 T T D 0.049 0.300 0.196 0.230 T T T T D T 1.118 12.940 0.916 N N -0.975 0.432 -1.135 0.341 0.931 0.646 0.547 0.645 0.636 . 4.620 -5.450 -0.019 -0.168 0.756 0.000 0.001 0.030 976 . . . . CEP170B 31 0 58 8 0.121212121212121 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674230 7674230 + C C T Missense_Mutation SNP ENST00000269305.8 exon7 c.G733A p.G245S exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.G733A:p.G245S 17p13.1 C3L-03630 8.239e-06 0 0 0 0 1.498e-05 0 0 rs28934575 19.20 D D D D D D M D D 0.921 D D D 0.947 . 0.994 0.387 T D D D D D 4.069 27.500 0.999 D D 0.816 9.103 0.750 8.806 1.000 0.722 0.702 0.725 0.735 . 4.620 4.620 7.905 1.021 0.596 1.000 0.893 0.975 433 p53,_DNA-binding_domain . . ID=COSV52661877;OCCURENCE=4(salivary_gland),48(breast),1(penis),4(liver),34(oesophagus),1(adrenal_gland),2(cervix),215(large_intestine),43(central_nervous_system),3(biliary_tract),27(ovary),6(vulva),1(bone),3(NS),55(stomach),33(haematopoietic_and_lymphoid_tissue),2(kidney),4(soft_tissue),14(urinary_tract),18(pancreas),12(skin),16(prostate),17(lung),6(thyroid),29(upper_aerodigestive_tract),7(small_intestine),13(endometrium) TP53 403 0 503 95 0.158862876254181 TRUE TRUE ENSG00000121068.14 . BCM GRCh38.p13 chr17 61404709 61404709 + C C T Missense_Mutation SNP ENST00000240328.4 exon5 c.C991T p.R331W exonic ENSG00000121068.14 . nonsynonymous SNV ENSG00000121068.14:ENST00000240328.4:exon5:c.C991T:p.R331W 17q23.2 C3L-03630 0.0002 0 0.0026 0 0 0 0 0 rs770492149 15.20 D D D D N D L D D 0.590 D D D 0.544 0.328 0.850 . T D T D T D 3.497 24.700 0.998 D D 0.047 2.681 0.001 2.362 1.000 0.598 0.596 0.608 0.639 . 4.750 2.640 0.757 0.134 -0.180 0.225 0.459 0.701 237 Transcription_factor,_T-box,_region_of_unknown_function . . . TBX2 133 0 213 36 0.144578313253012 TRUE NA ENSG00000141338.14 . BCM GRCh38.p13 chr17 68919318 68919318 + G G A Nonsense_Mutation SNP ENST00000586539.6 exon14 c.C1771T p.Q591X exonic ENSG00000141338.14 . stopgain ENSG00000141338.14:ENST00000586539.6:exon14:c.C1771T:p.Q591X 17q24.2 C3L-03630 1.651e-05 0 8.639e-05 0 0 0 0 6.095e-05 rs775795770 3.6 . . . . N A . . . 0.092 . . . . . . . . . D D . . 6.530 36 0.997 N N 0.116 2.950 -0.199 1.787 0.000 0.554 0.574 0.547 0.568 . 4.540 2.380 0.374 0.167 0.618 0.000 0.570 0.973 933 ABC_transporter-like;AAA+_ATPase_domain . . . ABCA8 109 0 179 28 0.135265700483092 TRUE NA ENSG00000101542.10 . BCM GRCh38.p13 chr18 61507379 61507379 + A A G Missense_Mutation SNP ENST00000262717.9 exon6 c.A836G p.Y279C exonic ENSG00000101542.10 . nonsynonymous SNV ENSG00000101542.10:ENST00000262717.9:exon6:c.A836G:p.Y279C 18q21.33 C3L-03630 . . . . . . . . . 18.20 D D D D D D H T D 0.927 D D D 0.762 0.677 0.861 1.182 D T D D D D 4.237 29.000 0.998 D D 1.069 16.276 0.948 15.992 1.000 0.487 0.574 0.574 0.542 . 5.450 5.450 9.325 1.312 0.756 1.000 1.000 0.989 787 Cadherin-like . . . CDH20 209 0 244 56 0.186666666666667 TRUE TRUE ENSG00000101470.10 . BCM GRCh38.p13 chr20 45824065 45824065 + T T C Missense_Mutation SNP ENST00000372555.8 exon5 c.A377G p.H126R exonic ENSG00000101470.10 . nonsynonymous SNV ENSG00000101470.10:ENST00000372555.8:exon5:c.A377G:p.H126R 20q13.12 C3L-03630 . . . . . . . . . 4.20 T T B B N D N T N 0.336 T T D 0.109 0.279 0.273 1.004 T T T T T D 2.609 22.700 0.971 D N -0.468 1.241 -0.277 1.612 1.000 0.726 0.541 0.594 0.568 . 4.120 4.120 1.195 1.138 0.609 1.000 0.996 0.972 819 EF-hand_domain . . . TNNC2 281 0 469 75 0.137867647058824 TRUE TRUE ENSG00000182541.18 . BCM GRCh38.p13 chr22 31266022 31266022 + C C T Missense_Mutation SNP ENST00000331728.9 exon8 c.C931T p.R311C exonic ENSG00000182541.18 . nonsynonymous SNV ENSG00000182541.18:ENST00000331728.9:exon8:c.C931T:p.R311C 22q12.2 C3L-03630 . . . . . . . . rs769771373 19.20 D D D D D D M D D 0.857 D D D 0.781 0.269 0.967 0.807 T D D D D D 4.409 31 0.999 D D 0.802 8.822 0.770 9.292 1.000 0.745 0.702 0.732 0.714 . 5.150 5.150 7.568 1.026 0.549 1.000 0.999 0.999 572 . . . . LIMK2 243 0 438 39 0.0817610062893082 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21974677 21974677 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000147889.17 ENST00000304494.9:exon1:c.150+1G>C . . 9p21.3 C3L-03630 . . . . . . . . . 5.5 . . . . . D . . . . . . . . . . . . . D D . . 4.582 32 0.991 D D 0.477 4.863 0.450 4.734 1.000 0.658 0.707 0.607 0.555 . 4.890 4.890 3.530 1.026 0.599 1.000 0.753 0.211 893 . . . ID=COSV58691878;OCCURENCE=2(liver),1(haematopoietic_and_lymphoid_tissue) CDKN2A 310 0 386 72 0.157205240174672 TRUE TRUE ENSG00000163029.16 . BCM GRCh38.p13 chr2 17716902 17716902 + A A T Silent SNP ENST00000448223.7 exon14 c.T1185A p.T395T exonic ENSG00000163029.16 . synonymous SNV ENSG00000163029.16:ENST00000448223.7:exon14:c.T1185A:p.T395T 2p24.2 C3L-03630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMC6 80 0 160 28 0.148936170212766 TRUE TRUE ENSG00000115946.8 . BCM GRCh38.p13 chr2 68174766 68174766 + T T C Silent SNP ENST00000263657.7 exon7 c.T723C p.I241I exonic ENSG00000115946.8 . synonymous SNV ENSG00000115946.8:ENST00000263657.7:exon7:c.T723C:p.I241I 2p14 C3L-03630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PNO1 108 0 187 24 0.113744075829384 TRUE NA ENSG00000149177.13 . BCM GRCh38.p13 chr11 48127850 48127850 + C C A Silent SNP ENST00000418331.7 exon7 c.C1164A p.V388V exonic ENSG00000149177.13 . synonymous SNV ENSG00000149177.13:ENST00000418331.7:exon7:c.C1164A:p.V388V 11p11.2 C3L-03630 8.238e-06 0 0 0 0 0 0 6.056e-05 rs762925560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRJ 144 0 270 34 0.111842105263158 TRUE NA ENSG00000149485.19 . BCM GRCh38.p13 chr11 61802914 61802914 + C C T Silent SNP ENST00000350997.12 exon11 c.G1341A p.T447T exonic ENSG00000149485.19 . synonymous SNV ENSG00000149485.19:ENST00000350997.12:exon11:c.G1341A:p.T447T 11q12.2 C3L-03630 2.487e-05 0.0002 0 0 0 1.501e-05 0 0 rs115713429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63521220;OCCURENCE=1(urinary_tract) FADS1 195 1 286 45 0.13595166163142 TRUE TRUE ENSG00000168286.3 . BCM GRCh38.p13 chr16 67843325 67843325 + C C T Silent SNP ENST00000303596.3 exon1 c.C771T p.L257L exonic ENSG00000168286.3 . synonymous SNV ENSG00000168286.3:ENST00000303596.3:exon1:c.C771T:p.L257L 16q22.1 C3L-03630 1.652e-05 0 0 0 0 3.01e-05 0 0 rs774473286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THAP11 176 0 282 43 0.132307692307692 TRUE NA ENSG00000183048.12 . BCM GRCh38.p13 chr17 81715709 81715709 + C C T Silent SNP ENST00000350690.10 exon4 c.C345T p.F115F exonic ENSG00000183048.12;ENSG00000262660.1 . synonymous SNV ENSG00000183048.12:ENST00000350690.10:exon4:c.C345T:p.F115F,ENSG00000262660.1:ENST00000571730.1:exon8:c.C810T:p.F270F 17q25.3 C3L-03630 9.137e-05 0.0011 0 0 0 0 0 0 rs199916012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A10 436 0 718 86 0.106965174129353 TRUE NA ENSG00000179242.16 . BCM GRCh38.p13 chr20 61928323 61928323 + G G A Silent SNP ENST00000614565.5 exon12 c.G1905A p.A635A exonic ENSG00000179242.16 . synonymous SNV ENSG00000179242.16:ENST00000614565.5:exon12:c.G1905A:p.A635A 20q13.33 C3L-03630 . . . . . . . . rs936184978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH4 574 0 925 152 0.141132776230269 TRUE NA ENSG00000211655.3 . BCM GRCh38.p13 chr22 22432313 22432313 + C C A Silent SNP ENST00000390301.3 exon2 c.C201A p.L67L exonic ENSG00000211655.3 . synonymous SNV ENSG00000211655.3:ENST00000390301.3:exon2:c.C201A:p.L67L 22q11.22 C3L-03630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLV1-36 417 0 607 109 0.152234636871508 TRUE TRUE ENSG00000131831.18 . BCM GRCh38.p13 chrX 17801675 17801675 + G G A Silent SNP ENST00000545871.1 exon3 c.C336T p.Y112Y exonic ENSG00000131831.18 . synonymous SNV ENSG00000131831.18:ENST00000545871.1:exon3:c.C336T:p.Y112Y Xp22.13 C3L-03630 5.72e-05 0.0001 0 0 0 6.26e-05 0 9.897e-05 rs760262315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58964040;OCCURENCE=1(large_intestine) RAI2 131 2 189 81 0.3 NA TRUE ENSG00000211997.1 . BCM GRCh38.p13 chr11 79402080 79402080 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000211997.1 . . . 11q14.1 C3L-03630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR708 54 0 124 21 0.144827586206897 TRUE NA ENSG00000111452.13 . BCM GRCh38.p13 chr12 131002807 131002807 + C C T Intron SNP NA NA NA NA intronic ENSG00000111452.13 . . . 12q24.33 C3L-03630 0.0003 0.0005 9.122e-05 0.0029 0 3.488e-05 0 0 rs144732392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55456596;OCCURENCE=1(prostate),1(lung),1(upper_aerodigestive_tract) ADGRD1 37 0 58 10 0.147058823529412 TRUE NA ENSG00000188112.9 . BCM GRCh38.p13 chr6 42105150 42105152 + CCC CCC TCT Unknown MNP ENST00000341865.9 exon4 c.2760_2762delinsAGA p.G921E exonic ENSG00000188112.9 . nonframeshift substitution ENSG00000188112.9:ENST00000341865.9:exon4:c.2760_2762delinsAGA:p.G921E 6p21.1 C3L-03630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C6orf132 153 134 461 83 0.152573529411765 TRUE NA ENSG00000160323.18 . BCM GRCh38.p13 chr9 133437877 133437878 + TG TG CA Unknown MNP ENST00000371929.7 exon13 c.1564_1565delinsCA p.C522H exonic ENSG00000160323.18 . nonframeshift substitution ENSG00000160323.18:ENST00000371929.7:exon13:c.1564_1565delinsCA:p.C522H 9q34.2 C3L-03630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS13 689 0 1037 155 0.13003355704698 NA TRUE ENSG00000179002.5 . BCM GRCh38.p13 chr1 18849391 18849391 + G G A Nonsense_Mutation SNP ENST00000375371.3 exon4 c.C1417T p.R473X exonic ENSG00000179002.5 . stopgain ENSG00000179002.5:ENST00000375371.3:exon4:c.C1417T:p.R473X 1p36.13 C3L-01662 . . . . . . . . rs1020801784 1.6 . . . . N A . . . 0.537 . . . . . . . . . T T . . 6.024 35 0.933 N N -0.707 0.801 -1.108 0.367 0.001 0.497 0.590 0.563 0.613 . 4.490 -4.640 -1.121 -0.735 -0.900 0.000 0.000 0.000 946 . . . ID=COSV64744730;OCCURENCE=1(large_intestine) TAS1R2 267 0 610 62 0.0922619047619048 TRUE TRUE ENSG00000117152.13 . BCM GRCh38.p13 chr1 163072810 163072810 + G G C Missense_Mutation SNP ENST00000367909.10 exon3 c.G155C p.S52T exonic ENSG00000117152.13 . nonsynonymous SNV ENSG00000117152.13:ENST00000367909.10:exon3:c.G155C:p.S52T 1q23.3 C3L-01662 . . . . . . . . . 5.20 T T B B D D L T N 0.336 T T T 0.069 0.414 0.667 0.207 T T T T D T 2.109 20.200 0.975 D D -0.176 1.946 -0.018 2.300 1.000 0.714 0.590 0.618 0.617 . 4.230 4.230 3.282 1.083 0.674 1.000 0.985 0.956 900 . . . . RGS4 172 0 360 24 0.0625 TRUE TRUE ENSG00000154358.21 . BCM GRCh38.p13 chr1 228308308 228308308 + G G A Missense_Mutation SNP ENST00000422127.5 exon47 c.G12664A p.V4222M exonic ENSG00000154358.21 . nonsynonymous SNV ENSG00000154358.21:ENST00000422127.5:exon47:c.G12664A:p.V4222M 1q42.13 C3L-01662 1.863e-05 0.0001 0 0 0 1.681e-05 0 0 rs375322738 14.20 D D D D D D H T N 0.421 D D D 0.455 . 0.753 0.495 T T T D D D 3.008 23.400 0.985 D N 0.674 6.771 0.570 5.872 0.635 0.635 0.574 0.644 0.613 . 6.040 6.040 2.456 1.176 0.676 0.995 0.036 0.019 446 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin_subtype . . ID=COSV52812227;OCCURENCE=1(pancreas) OBSCN 313 0 630 180 0.222222222222222 TRUE TRUE ENSG00000155816.20 . BCM GRCh38.p13 chr1 240438178 240438178 + G G A Nonsense_Mutation SNP ENST00000319653.14 exon16 c.G5028A p.W1676X exonic ENSG00000155816.20 . stopgain ENSG00000155816.20:ENST00000319653.14:exon16:c.G5028A:p.W1676X 1q43 C3L-01662 . . . . . . . . . 5.6 . . . . D A . . . 0.925 . . . . . . . . . D D . . 10.670 56 0.996 D N 0.915 11.441 0.797 10.048 1.000 0.554 0.574 0.618 0.621 . 5.910 5.000 9.399 1.176 0.606 1.000 0.999 0.987 945 Formin,_FH2_domain . . ID=COSV60446025;OCCURENCE=1(skin) FMN2 176 0 383 23 0.0566502463054187 TRUE TRUE ENSG00000242580.1 . BCM GRCh38.p13 chr2 90210088 90210088 + T T C Missense_Mutation SNP ENST00000468879.1 exon1 c.T35C p.L12P exonic ENSG00000242580.1 . nonsynonymous SNV ENSG00000242580.1:ENST00000468879.1:exon1:c.T35C:p.L12P 2p11.2 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV1D-43 229 0 503 55 0.0985663082437276 NA TRUE ENSG00000115361.8 . BCM GRCh38.p13 chr2 210204652 210204652 + G G A Missense_Mutation SNP ENST00000233710.4 exon7 c.C799T p.R267W exonic ENSG00000115361.8 . nonsynonymous SNV ENSG00000115361.8:ENST00000233710.4:exon7:c.C799T:p.R267W 2q34 C3L-01662 0.0006 9.654e-05 0.0004 0.0002 0 0.0006 0.0011 0.0012 rs200297060 15.20 D D B B D D M D D 0.683 D D D 0.705 . 0.987 0.318 T D T D T D 2.807 23.000 0.993 D D -0.117 2.121 -0.055 2.181 0.395 0.487 0.590 0.574 0.542 . 5.220 3.380 3.654 0.221 -0.208 1.000 0.993 0.983 704 . . . ID=COSV52053772;OCCURENCE=2(large_intestine),1(stomach) ACADL 347 0 694 99 0.12484237074401 TRUE TRUE ENSG00000144451.19 . BCM GRCh38.p13 chr2 213284593 213284593 + C C T Missense_Mutation SNP ENST00000331683.10 exon1 c.C110T p.A37V exonic ENSG00000144451.19 . nonsynonymous SNV ENSG00000144451.19:ENST00000331683.10:exon1:c.C110T:p.A37V 2q34 C3L-01662 . . . . . . . . . 8.20 D D D P N D M T N 0.374 T T D 0.073 0.496 0.689 0.047 T T T T D D 2.580 22.600 0.999 N N -0.132 2.076 -0.137 1.946 1.000 0.442 0.522 0.522 0.373 . 4.200 3.310 1.777 1.026 0.549 0.984 0.495 0.792 919 . . . . SPAG16 117 0 306 32 0.0946745562130177 TRUE TRUE ENSG00000155890.4 . BCM GRCh38.p13 chr3 140682803 140682803 + G G A Missense_Mutation SNP ENST00000286349.4 exon2 c.G683A p.R228H exonic ENSG00000155890.4 . nonsynonymous SNV ENSG00000155890.4:ENST00000286349.4:exon2:c.G683A:p.R228H 3q23 C3L-01662 8.245e-06 0 0 0 0 0 0 6.056e-05 rs766965674 10.20 D D D D D D L T N 0.457 T T T 0.242 0.501 0.631 0.937 T T T T D D 4.180 28.500 1.000 D D 0.684 6.904 0.679 7.386 0.125 0.487 0.574 0.574 0.564 . 5.200 5.200 6.024 1.176 0.676 1.000 1.000 0.997 561 . . . ID=COSV53883946;OCCURENCE=1(stomach) TRIM42 215 1 592 53 0.0821705426356589 TRUE TRUE ENSG00000145734.19 . BCM GRCh38.p13 chr5 71522386 71522386 + G G A Missense_Mutation SNP ENST00000358731.9 exon23 c.G5089A p.E1697K exonic ENSG00000145734.19 . nonsynonymous SNV ENSG00000145734.19:ENST00000358731.9:exon23:c.G5089A:p.E1697K 5q13.2 C3L-01662 . . . . . . . . . 2.20 T D B B N N L T N 0.100 T T T 0.026 0.206 0.161 0.044 T T T T T T 1.744 17.330 0.990 D N -0.319 1.569 -0.344 1.476 0.911 0.651 0.654 0.609 0.684 . 5.210 3.350 2.410 0.228 0.676 0.992 0.038 0.089 434 . . . . BDP1 227 0 403 32 0.0735632183908046 TRUE TRUE ENSG00000175325.2 . BCM GRCh38.p13 chr5 177995915 177995915 + G G A Missense_Mutation SNP ENST00000308304.2 exon1 c.C19T p.R7C exonic ENSG00000175325.2 . nonsynonymous SNV ENSG00000175325.2:ENST00000308304.2:exon1:c.C19T:p.R7C 5q35.3 C3L-01662 4.125e-05 0 0 0 0 6e-05 0 6.062e-05 rs374712664 2.20 T D P B N N L D N 0.099 T T T 0.254 . 0.502 0.173 T T T T T T 0.587 7.385 0.792 N N -1.537 0.070 -1.708 0.049 0.879 0.497 0.590 0.608 0.542 . 2.120 -4.230 -1.065 -1.007 -1.746 0.001 0.059 0.007 929 . . . ID=COSV57645338;OCCURENCE=1(oesophagus),1(biliary_tract) PROP1 335 0 803 61 0.0706018518518518 TRUE TRUE ENSG00000204469.13 . BCM GRCh38.p13 chr6 31624471 31624471 + G G T Missense_Mutation SNP ENST00000376033.3 exon5 c.G412T p.G138W exonic ENSG00000204469.13 . nonsynonymous SNV ENSG00000204469.13:ENST00000376033.3:exon5:c.G412T:p.G138W 6p21.33 C3L-01662 . . . . . . . . . 15.20 D D D D D D M T D 0.843 T T D 0.489 0.625 0.134 0.185 D T D T D D 4.482 32 0.956 D D 0.792 8.630 0.771 9.315 1.000 0.672 0.702 0.702 0.711 . 4.780 4.780 9.143 1.162 0.668 1.000 1.000 1.000 878 BAT2,_N-terminal . . . PRRC2A 238 0 514 33 0.0603290676416819 TRUE TRUE ENSG00000112218.9 . BCM GRCh38.p13 chr6 96799500 96799500 + A A T Missense_Mutation SNP ENST00000229955.4 exon2 c.T232A p.L78M exonic ENSG00000112218.9 . nonsynonymous SNV ENSG00000112218.9:ENST00000229955.4:exon2:c.T232A:p.L78M 6q16.1 C3L-01662 . . . . . . . . . 7.20 D D D D D D L T N 0.411 T T T 0.155 0.354 0.222 0.483 T T T T T T 2.658 22.700 0.975 D N -0.417 1.346 -0.576 1.082 0.000 0.707 0.654 0.725 0.564 . 5.150 -3.570 1.736 0.259 -0.208 1.000 0.992 0.983 753 . . . . GPR63 278 0 573 35 0.0575657894736842 TRUE TRUE ENSG00000106571.14 . BCM GRCh38.p13 chr7 42023523 42023523 + T T G Missense_Mutation SNP ENST00000395925.8 exon10 c.A1442C p.N481T exonic ENSG00000106571.14 . nonsynonymous SNV ENSG00000106571.14:ENST00000395925.8:exon10:c.A1442C:p.N481T 7p14.1 C3L-01662 . . . . . . . . . 17.20 D D P B D D M D D 0.870 D D D 0.587 0.342 0.732 0.622 T D D D D D 3.329 24.200 0.992 D D 0.399 4.338 0.519 5.341 1.000 0.706 0.590 0.710 0.636 . 5.700 5.700 8.017 1.137 0.665 1.000 1.000 0.996 894 Zinc_finger_C2H2-type . . . GLI3 326 1 838 71 0.0781078107810781 TRUE TRUE ENSG00000048405.10 . BCM GRCh38.p13 chr7 127373796 127373796 + T T A Missense_Mutation SNP ENST00000265827.8 exon5 c.A1540T p.I514F exonic ENSG00000048405.10 . nonsynonymous SNV ENSG00000048405.10:ENST00000265827.8:exon5:c.A1540T:p.I514F 7q31.33 C3L-01662 . . . . . . . . . 9.19 D T D D D . N T N 0.648 T T T 0.391 0.373 0.068 0.468 D T T T D D 3.448 24.500 0.971 D D 0.611 6.042 0.680 7.397 1.000 0.707 0.725 0.651 0.714 . 6.070 6.070 7.674 1.138 0.665 1.000 1.000 1.000 0 . . . . ZNF800 171 0 318 32 0.0914285714285714 TRUE TRUE ENSG00000147485.13 . BCM GRCh38.p13 chr8 51475132 51475132 + A A C Missense_Mutation SNP ENST00000356297.5 exon7 c.T534G p.D178E exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon7:c.T534G:p.D178E 8q11.22 C3L-01662 . . . . . . . . . 4.19 D T P P . N L T N 0.497 T T T 0.162 0.490 0.215 0.519 T T T T D D 1.968 19.010 0.990 D N -0.456 1.266 -0.578 1.080 0.000 0.554 0.574 0.618 0.564 . 4.750 -0.471 0.291 0.153 -0.065 0.994 0.805 0.088 912 . . . . PXDNL 130 0 284 42 0.128834355828221 TRUE TRUE ENSG00000047621.12 . BCM GRCh38.p13 chr12 4525312 4525312 + G G C Missense_Mutation SNP ENST00000261250.8 exon6 c.C670G p.Q224E exonic ENSG00000047621.12 . nonsynonymous SNV ENSG00000047621.12:ENST00000261250.8:exon6:c.C670G:p.Q224E 12p13.32 C3L-01662 . . . . . . . . . 10.18 D T P P D D M . N 0.738 T T T 0.150 0.643 0.458 0.781 . T D D D D 3.031 23.500 0.993 D D 0.587 5.798 0.619 6.467 1.000 0.706 0.710 0.659 0.613 . 5.090 5.090 9.210 1.172 0.672 1.000 1.000 0.994 887 . . . . C12orf4 263 0 633 57 0.0826086956521739 TRUE TRUE ENSG00000185652.12 . BCM GRCh38.p13 chr12 5494638 5494638 + C C T Missense_Mutation SNP ENST00000331010.7 exon1 c.C424T p.H142Y exonic ENSG00000185652.12 . nonsynonymous SNV ENSG00000185652.12:ENST00000331010.7:exon1:c.C424T:p.H142Y 12p13.31 C3L-01662 . . . . . . . . . 14.20 D T D D D D L T D 0.625 T T D 0.374 0.539 0.461 2.040 T D D D D D 3.636 25.200 0.997 D D 0.717 7.370 0.721 8.168 1.000 0.554 0.590 0.602 0.542 . 5.520 5.520 6.066 1.026 0.549 1.000 0.999 0.991 969 . . . . NTF3 215 0 571 63 0.0993690851735016 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01662 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 307 1 522 90 0.147058823529412 TRUE TRUE ENSG00000126216.15 . BCM GRCh38.p13 chr13 112527015 112527015 + G G C Missense_Mutation SNP ENST00000261965.8 exon13 c.C1482G p.H494Q exonic ENSG00000126216.15 . nonsynonymous SNV ENSG00000126216.15:ENST00000261965.8:exon13:c.C1482G:p.H494Q 13q34 C3L-01662 . . . . . . . . . 5.20 T D B B D D L T N 0.829 T T T 0.187 0.589 0.781 0.579 T T T T T D 2.017 19.380 0.949 D N -0.425 1.329 -0.339 1.486 0.997 0.732 0.644 0.744 0.714 . 4.660 0.273 1.646 1.157 0.595 1.000 1.000 0.994 994 . . . . TUBGCP3 224 0 452 27 0.0563674321503132 TRUE TRUE ENSG00000169221.14 . BCM GRCh38.p13 chr16 30358470 30358470 + C C T Missense_Mutation SNP ENST00000409939.8 exon9 c.G1901A p.R634Q exonic ENSG00000169221.14 . nonsynonymous SNV ENSG00000169221.14:ENST00000409939.8:exon9:c.G1901A:p.R634Q 16p11.2 C3L-01662 2.199e-05 0 0 0 0 0 0 0.0001 rs747731612 12.20 D T D P D D L D N 0.141 D D D 0.387 0.277 0.359 0.467 T T D D D T 3.362 24.300 0.998 D N 0.290 3.730 0.254 3.462 1.000 0.707 0.702 0.723 0.714 . 4.480 4.480 3.127 1.023 0.544 1.000 1.000 0.997 185 . . . . TBC1D10B 120 0 401 73 0.154008438818565 TRUE NA ENSG00000005156.12 . BCM GRCh38.p13 chr17 34991796 34991796 + G G C Missense_Mutation SNP ENST00000378526.9 exon6 c.G1167C p.K389N exonic ENSG00000005156.12 . nonsynonymous SNV ENSG00000005156.12:ENST00000378526.9:exon6:c.G1167C:p.K389N 17q12 C3L-01662 . . . . . . . . . 12.20 D D D D D D M T D 0.442 T T T 0.165 0.377 0.229 0.703 T T T T D D 3.477 24.600 0.999 D D 0.497 5.009 0.415 4.463 1.000 0.707 0.696 0.698 0.714 . 5.500 2.150 2.503 0.245 0.676 1.000 1.000 0.988 835 DNA_ligase,_ATP-dependent,_N-terminal . . . LIG3 244 0 516 91 0.1499176276771 TRUE TRUE ENSG00000168502.17 . BCM GRCh38.p13 chr18 8796305 8796305 + T T A Missense_Mutation SNP ENST00000306329.15 exon7 c.T3041A p.L1014H exonic ENSG00000168502.17 . nonsynonymous SNV ENSG00000168502.17:ENST00000306329.15:exon7:c.T3041A:p.L1014H 18p11.22 C3L-01662 . . . . . . . . . 14.20 D D D D N D M T D 0.896 T T D 0.419 . 0.432 0.546 T T D D D D 3.868 26.200 0.983 D D 0.569 5.625 0.485 5.023 1.000 0.757 0.563 0.858 0.592 . 5.760 5.760 6.208 1.138 0.665 0.996 0.838 0.906 874 . . . . MTCL1 390 0 822 50 0.0573394495412844 TRUE TRUE ENSG00000188227.13 . BCM GRCh38.p13 chr19 37532401 37532401 + G G C Missense_Mutation SNP ENST00000627814.3 exon6 c.G61C p.E21Q exonic ENSG00000188227.13 . nonsynonymous SNV ENSG00000188227.13:ENST00000627814.3:exon6:c.G61C:p.E21Q 19q13.12 C3L-01662 . . . . . . . . . 9.19 D D D D . N H T D 0.576 T T T 0.257 0.896 0.575 0.305 T T T T D D 3.436 24.500 0.998 D N 0.669 6.709 0.527 5.418 0.006 0.707 0.588 0.725 0.564 . 3.530 3.530 3.754 1.006 0.676 1.000 0.980 0.911 658 Krueppel-associated_box . . . ZNF793 149 1 340 28 0.0760869565217391 TRUE TRUE ENSG00000154736.6 . BCM GRCh38.p13 chr21 26934588 26934588 + G G A Missense_Mutation SNP ENST00000284987.6 exon4 c.C1567T p.R523C exonic ENSG00000154736.6 . nonsynonymous SNV ENSG00000154736.6:ENST00000284987.6:exon4:c.C1567T:p.R523C 21q21.3 C3L-01662 1.648e-05 0 0 0.0001 0 1.499e-05 0 0 rs759375195 9.20 T T B B D D M T N 0.827 T T D 0.271 0.581 0.784 1.397 D T T T D D 3.724 25.500 0.999 D D -0.074 2.260 0.061 2.579 1.000 0.554 0.574 0.602 0.564 . 5.680 3.880 5.991 1.176 0.676 1.000 0.996 0.945 735 ADAM,_cysteine-rich . . ID=COSV53176118;OCCURENCE=1(large_intestine),1(stomach) ADAMTS5 403 0 896 60 0.0627615062761506 TRUE TRUE ENSG00000186951.16 . BCM GRCh38.p13 chr22 46215296 46215296 + G G C Missense_Mutation SNP ENST00000407236.5 exon4 c.G332C p.G111A exonic ENSG00000186951.16 . nonsynonymous SNV ENSG00000186951.16:ENST00000407236.5:exon4:c.G332C:p.G111A 22q13.31 C3L-01662 . . . . . . . . . 20.20 D D D D D D H D D 0.942 D D D 0.981 0.977 0.992 . D D D D D D 3.956 26.700 0.999 D D 1.039 15.179 0.950 16.061 1.000 0.707 0.725 0.659 0.655 . 5.150 5.150 9.857 1.176 0.618 1.000 0.997 0.990 895 Zinc_finger,_nuclear_hormone_receptor-type . . . PPARA 483 0 842 177 0.173699705593719 TRUE TRUE ENSG00000204267.16 . BCM GRCh38.p13 chr6 32837638 32837638 + G G A Silent SNP ENST00000374897.4 exon3 c.C507T p.I169I exonic ENSG00000204267.16;ENSG00000250264.1 . synonymous SNV ENSG00000204267.16:ENST00000374897.4:exon3:c.C507T:p.I169I,ENSG00000250264.1:ENST00000452392.2:exon3:c.C507T:p.I169I 6p21.32 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAP2 457 0 966 58 0.056640625 TRUE TRUE ENSG00000127948.16 . BCM GRCh38.p13 chr7 75985123 75985123 + G G A Silent SNP ENST00000461988.6 exon12 c.G1314A p.P438P exonic ENSG00000127948.16 . synonymous SNV ENSG00000127948.16:ENST00000461988.6:exon12:c.G1314A:p.P438P 7q11.23 C3L-01662 6.95e-05 0 0 0.0004 0 4.765e-05 0 0.0001 rs199937789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58693818;OCCURENCE=2(large_intestine),1(endometrium) POR 69 0 248 42 0.144827586206897 TRUE TRUE ENSG00000023287.13 . BCM GRCh38.p13 chr8 52683645 52683645 + G G C Silent SNP ENST00000025008.10 exon5 c.C273G p.T91T exonic ENSG00000023287.13 . synonymous SNV ENSG00000023287.13:ENST00000025008.10:exon5:c.C273G:p.T91T 8q11.23 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RB1CC1 126 0 220 26 0.105691056910569 TRUE TRUE ENSG00000164796.18 . BCM GRCh38.p13 chr8 112517158 112517158 + T T C Silent SNP ENST00000297405.10 exon28 c.A4632G p.R1544R exonic ENSG00000164796.18 . synonymous SNV ENSG00000164796.18:ENST00000297405.10:exon28:c.A4632G:p.R1544R 8q23.3 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSMD3 272 0 632 51 0.0746705710102489 TRUE TRUE ENSG00000165282.14 . BCM GRCh38.p13 chr9 35089197 35089197 + G G A Silent SNP ENST00000378617.4 exon11 c.C3165T p.F1055F exonic ENSG00000165282.14 . synonymous SNV ENSG00000165282.14:ENST00000378617.4:exon11:c.C3165T:p.F1055F 9p13.3 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIGO 215 0 507 44 0.0798548094373866 TRUE TRUE ENSG00000171505.5 . BCM GRCh38.p13 chr9 122526715 122526715 + G G A Silent SNP ENST00000304880.2 exon1 c.C579T p.N193N exonic ENSG00000171505.5 . synonymous SNV ENSG00000171505.5:ENST00000304880.2:exon1:c.C579T:p.N193N 9q33.2 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR1N1 277 0 512 39 0.0707803992740472 TRUE TRUE ENSG00000117983.17 . BCM GRCh38.p13 chr11 1249993 1249993 + C C T Silent SNP ENST00000529681.5 exon31 c.C13113T p.T4371T exonic ENSG00000117983.17 . synonymous SNV ENSG00000117983.17:ENST00000529681.5:exon31:c.C13113T:p.T4371T 11p15.5 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5B 462 0 921 93 0.0917159763313609 NA TRUE ENSG00000149043.16 . BCM GRCh38.p13 chr11 1837350 1837350 + C C T Silent SNP ENST00000381968.7 exon9 c.C1125T p.P375P exonic ENSG00000149043.16 . synonymous SNV ENSG00000149043.16:ENST00000381968.7:exon9:c.C1125T:p.P375P 11p15.5 C3L-01662 9.507e-06 0 0 0 0 1.74e-05 0 0 rs765027292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53290837;OCCURENCE=1(lung) SYT8 130 0 309 51 0.141666666666667 TRUE TRUE ENSG00000197136.4 . BCM GRCh38.p13 chr11 65618985 65618985 + G G C Silent SNP ENST00000355703.3 exon6 c.G1623C p.L541L exonic ENSG00000197136.4 . synonymous SNV ENSG00000197136.4:ENST00000355703.3:exon6:c.G1623C:p.L541L 11q13.1 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCNX3 214 0 525 41 0.0724381625441696 TRUE TRUE ENSG00000047621.12 . BCM GRCh38.p13 chr12 4525331 4525331 + G G A Silent SNP ENST00000261250.8 exon6 c.C651T p.A217A exonic ENSG00000047621.12 . synonymous SNV ENSG00000047621.12:ENST00000261250.8:exon6:c.C651T:p.A217A 12p13.32 C3L-01662 8.251e-06 0 0 0 0 0 0 6.058e-05 rs747307280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C12orf4 252 0 606 50 0.0762195121951219 TRUE NA ENSG00000104885.18 . BCM GRCh38.p13 chr19 2217777 2217777 + G G C Silent SNP ENST00000398665.8 exon22 c.G2550C p.L850L exonic ENSG00000104885.18 . synonymous SNV ENSG00000104885.18:ENST00000398665.8:exon22:c.G2550C:p.L850L 19p13.3 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101288490;OCCURENCE=1(cervix) DOT1L 117 0 310 18 0.0548780487804878 TRUE TRUE ENSG00000050030.15 . BCM GRCh38.p13 chrX 74742574 74742574 + G G A Silent SNP ENST00000055682.12 exon3 c.C1983T p.H661H exonic ENSG00000050030.15 . synonymous SNV ENSG00000050030.15:ENST00000055682.12:exon3:c.C1983T:p.H661H Xq13.3 C3L-01662 5.148e-05 0.0001 0 0 0 4.801e-05 0 0.0001 rs138583612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEXMIF 316 0 484 70 0.126353790613718 TRUE NA ENSG00000127241.17 . BCM GRCh38.p13 chr3 187236453 187236453 + G G A Intron SNP NA NA NA NA intronic ENSG00000127241.17 . . . 3q27.3 C3L-01662 2.472e-05 0 0 0 0 4.497e-05 0 0 rs750601815 15.18 D T D D D D . D D 0.523 D D D 0.609 . 0.904 0.282 T . T D D D 4.009 27.000 0.999 D D 0.564 5.575 0.640 6.759 1.000 0.554 0.590 0.618 0.564 . 5.960 5.960 6.264 1.176 0.676 1.000 0.990 0.866 945 . . . ID=COSV56227201;OCCURENCE=1(endometrium) MASP1 93 1 459 38 0.0764587525150905 TRUE NA ENSG00000170419.10 . BCM GRCh38.p13 chr7 54554072 54554072 + A A G Intron SNP NA NA NA NA intronic ENSG00000170419.10 . . . 7p11.2 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VSTM2A 170 0 328 30 0.0837988826815642 TRUE NA ENSG00000104529.17 . BCM GRCh38.p13 chr8 143589382 143589382 + G G A Intron SNP NA NA NA NA intronic ENSG00000104529.17 . . . 8q24.3 C3L-01662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EEF1D 21 0 89 5 0.0531914893617021 TRUE NA ENSG00000104970.11 . BCM GRCh38.p13 chr19 54537071 54537071 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000104970.11 . . . 19q13.42 C3L-01662 8.28e-06 0 0 0 0 1.498e-05 0 0 rs760842823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55597926;OCCURENCE=2(large_intestine),1(soft_tissue),2(pancreas),1(lung),1(endometrium) KIR3DX1 332 0 662 55 0.0767085076708508 TRUE TRUE ENSG00000117569.18 . BCM GRCh38.p13 chr1 96751440 96751440 + C C G Missense_Mutation SNP ENST00000426398.2 exon3 c.C55G p.L19V exonic ENSG00000117569.18 . nonsynonymous SNV ENSG00000117569.18:ENST00000426398.2:exon3:c.C55G:p.L19V 1p21.3 C3N-00709 . . . . . . . . . 12.20 D D D D D D M T N 0.571 T T D 0.179 . 0.515 1.130 D T T T D D 3.482 24.700 0.998 D N 0.616 6.089 0.632 6.653 0.848 0.651 0.709 0.644 0.684 . 5.700 5.700 3.855 1.026 0.599 1.000 1.000 0.996 848 . . . . PTBP2 163 0 173 37 0.176190476190476 TRUE TRUE ENSG00000134250.20 . BCM GRCh38.p13 chr1 119968103 119968103 + G G C Missense_Mutation SNP ENST00000256646.7 exon7 c.C1238G p.T413R exonic ENSG00000134250.20 . nonsynonymous SNV ENSG00000134250.20:ENST00000256646.7:exon7:c.C1238G:p.T413R 1p12 C3N-00709 . . . . . . . . . 13.20 D T D D U D N D N 0.570 D D D 0.513 0.373 0.927 1.612 T T D D D D 2.552 22.500 0.991 D N 0.394 4.306 0.459 4.807 1.000 0.778 0.567 0.780 0.826 . 5.230 5.230 3.235 1.157 0.676 1.000 0.999 0.998 861 EGF-like_domain;EGF-like_calcium-binding_domain . . . NOTCH2 527 0 581 141 0.195290858725762 TRUE TRUE ENSG00000134389.10 . BCM GRCh38.p13 chr1 196984082 196984082 + A A C Missense_Mutation SNP ENST00000256785.5 exon3 c.A375C p.K125N exonic ENSG00000134389.10 . nonsynonymous SNV ENSG00000134389.10:ENST00000256785.5:exon3:c.A375C:p.K125N 1q31.3 C3N-00709 8.247e-06 0 0 0 0 1.5e-05 0 0 rs775956342 0.19 T T B B . N N T N 0.080 T T T 0.029 0.573 0.479 0.016 T T T T T T 0.144 2.517 0.082 N N -1.552 0.067 -1.557 0.088 0.000 0.487 0.574 0.574 0.564 . 3.890 -2.060 -0.025 -0.387 -0.416 0.000 0.000 0.002 300 Sushi/SCR/CCP_domain . . ID=COSV56818541;OCCURENCE=1(liver) CFHR5 307 0 456 26 0.0539419087136929 NA TRUE ENSG00000154358.21 . BCM GRCh38.p13 chr1 228217018 228217018 + G G A Missense_Mutation SNP ENST00000422127.5 exon8 c.G2383A p.A795T exonic ENSG00000154358.21 . nonsynonymous SNV ENSG00000154358.21:ENST00000422127.5:exon8:c.G2383A:p.A795T 1q42.13 C3N-00709 0.0002 0 0 0 0 4.776e-05 0 0.0011 rs568901396 1.20 T T B B N N N T N 0.148 T T D 0.041 0.421 0.315 0.091 T T T T T T -0.671 0.051 0.641 N N -1.607 0.053 -1.562 0.086 0.761 0.732 0.574 0.744 0.613 . 4.790 1.150 0.176 -0.460 -1.556 0.000 0.000 0.000 503 . . . ID=COSV52822663;OCCURENCE=1(large_intestine) OBSCN 120 0 151 35 0.188172043010753 TRUE TRUE ENSG00000116031.9 . BCM GRCh38.p13 chr2 70835518 70835518 + C C T Missense_Mutation SNP ENST00000410009.5 exon2 c.G163A p.A55T exonic ENSG00000116031.9 . nonsynonymous SNV ENSG00000116031.9:ENST00000410009.5:exon2:c.G163A:p.A55T 2p13.3 C3N-00709 3.323e-05 0.0001 0 0 0 3.004e-05 0 6.095e-05 rs781983818 0.20 T T B B N N N T N 0.054 T T T 0.009 0.217 0.092 0.160 T T T T T T 0.206 3.196 0.923 N N -1.359 0.135 -1.372 0.166 0.149 0.497 0.590 0.547 0.542 . 4.870 -2.160 -0.990 -0.319 -0.218 0.000 0.001 0.045 876 . . . ID=COSV69651938;OCCURENCE=1(lung) CD207 331 0 400 71 0.150743099787686 TRUE TRUE ENSG00000144381.17 . BCM GRCh38.p13 chr2 197494701 197494701 + C C G Missense_Mutation SNP ENST00000388968.8 exon5 c.G562C p.D188H exonic ENSG00000144381.17 . nonsynonymous SNV ENSG00000144381.17:ENST00000388968.8:exon5:c.G562C:p.D188H 2q33.1 C3N-00709 . . . . . . . . . 16.20 D D P P D D M T D 0.477 D D D 0.679 0.446 0.635 1.757 T D D D D D 3.887 26.300 0.995 D D 0.732 7.595 0.687 7.521 1.000 0.722 0.663 0.702 0.735 . 5.040 5.040 4.841 1.023 0.549 1.000 1.000 0.997 547 . . . . HSPD1 242 0 268 43 0.138263665594855 TRUE TRUE ENSG00000010282.15 . BCM GRCh38.p13 chr3 42697001 42697001 + G G A Missense_Mutation SNP ENST00000441594.6 exon8 c.C1010T p.T337M exonic ENSG00000010282.15 . nonsynonymous SNV ENSG00000010282.15:ENST00000441594.6:exon8:c.C1010T:p.T337M 3p22.1 C3N-00709 1.722e-05 0 0 0 0 3.063e-05 0 0 rs773754543 11.20 T D D D D D L T N 0.931 T T D 0.515 0.678 0.857 0.663 T T D D T D 3.264 24.000 0.995 D D 0.590 5.825 0.544 5.586 1.000 0.497 0.590 0.547 0.542 . 4.320 4.320 9.780 1.083 0.674 1.000 0.965 0.252 397 . . . . HHATL 88 0 123 16 0.115107913669065 TRUE NA ENSG00000010327.10 . BCM GRCh38.p13 chr3 52507940 52507940 + C C T Missense_Mutation SNP ENST00000321725.10 exon20 c.C2062T p.P688S exonic ENSG00000010327.10 . nonsynonymous SNV ENSG00000010327.10:ENST00000321725.10:exon20:c.C2062T:p.P688S 3p21.1 C3N-00709 . . . . . . . . . 12.20 T D D P D D L D D 0.366 T D D 0.354 0.474 0.788 0.652 T T D T D T 2.577 22.600 0.999 D D 0.059 2.729 0.043 2.511 1.000 0.722 0.547 0.578 0.735 . 4.960 4.960 3.674 1.026 0.599 0.771 0.978 0.948 84 . . . . STAB1 113 0 124 30 0.194805194805195 TRUE TRUE ENSG00000084092.7 . BCM GRCh38.p13 chr4 56976532 56976532 + A A C Missense_Mutation SNP ENST00000264230.5 exon1 c.T1054G p.S352A exonic ENSG00000084092.7 . nonsynonymous SNV ENSG00000084092.7:ENST00000264230.5:exon1:c.T1054G:p.S352A 4q12 C3N-00709 . . . . . . . . . 16.20 D D D D D D M T D 0.745 D T D 0.591 0.860 0.702 0.543 T T D D D D 4.156 28.300 0.996 D D 0.900 11.057 0.756 8.935 1.000 0.628 0.672 0.672 0.658 . 5.680 4.480 7.047 1.302 0.741 1.000 1.000 0.994 855 GTP_binding_domain;Circularly_permuted_(CP)-type_guanine_nucleotide-binding_(G)_domain . . . NOA1 214 2 248 43 0.147766323024055 TRUE TRUE ENSG00000163629.13 . BCM GRCh38.p13 chr4 86774520 86774520 + C C T Missense_Mutation SNP ENST00000411767.7 exon33 c.C5497T p.R1833W exonic ENSG00000163629.13 . nonsynonymous SNV ENSG00000163629.13:ENST00000411767.7:exon33:c.C5497T:p.R1833W 4q21.3 C3N-00709 4.98e-05 0 0 0.0002 0 3.111e-05 0 0.0001 rs747404195 15.20 D D D D D D M T D 0.884 T T D 0.563 0.823 0.556 0.263 T T D D D D 4.255 29.200 0.999 D D 0.709 7.242 0.627 6.583 0.993 0.732 0.588 0.744 0.621 . 5.500 4.630 3.372 1.026 0.599 1.000 0.999 0.994 863 PDZ_domain . . . PTPN13 121 0 134 31 0.187878787878788 TRUE NA ENSG00000138646.9 . BCM GRCh38.p13 chr4 88499967 88499967 + A A T Missense_Mutation SNP ENST00000264350.8 exon19 c.A2486T p.E829V exonic ENSG00000138646.9 . nonsynonymous SNV ENSG00000138646.9:ENST00000264350.8:exon19:c.A2486T:p.E829V 4q22.1 C3N-00709 . . . . . . . . . 6.20 D D P D N N M T D 0.199 T T D 0.279 0.758 0.480 0.489 T T T T T T 1.212 13.730 0.904 N N -1.022 0.381 -1.335 0.187 1.000 0.732 0.744 0.659 0.621 . 4.490 -8.990 -0.831 -0.279 -0.810 0.292 0.751 0.496 830 HECT_domain . . . HERC5 98 0 80 15 0.157894736842105 TRUE TRUE ENSG00000169570.10 . BCM GRCh38.p13 chr5 118840993 118840993 + A A G Missense_Mutation SNP ENST00000510708.6 exon6 c.T821C p.L274S exonic ENSG00000169570.10 . nonsynonymous SNV ENSG00000169570.10:ENST00000510708.6:exon6:c.T821C:p.L274S 5q23.1 C3N-00709 . . . . . . . . . 7.19 T T D P D D L . D 0.342 T T T 0.157 0.314 0.713 0.187 T T T T D T 3.605 25.100 0.997 D D 0.463 4.762 0.530 5.444 0.944 0.638 0.670 0.653 0.621 . 5.530 5.530 8.687 1.288 0.756 1.000 1.000 0.998 691 . . . . DTWD2 270 0 369 69 0.157534246575342 TRUE TRUE ENSG00000113248.6 . BCM GRCh38.p13 chr5 141246252 141246252 + C C A Missense_Mutation SNP ENST00000231173.6 exon1 c.C674A p.T225N exonic ENSG00000113248.6 . nonsynonymous SNV ENSG00000113248.6:ENST00000231173.6:exon1:c.C674A:p.T225N 5q31.3 C3N-00709 . . . . . . . . . 7.19 D D P P . N M T D 0.157 T T D 0.182 0.566 0.689 0.558 T T T T D D 2.355 21.900 0.972 N N -0.158 1.998 -0.320 1.524 1.000 0.609 0.588 0.731 0.621 . 4.920 4.040 2.116 0.962 0.469 0.209 0.002 0.061 688 Cadherin-like . . . PCDHB15 257 2 289 59 0.169540229885057 TRUE NA ENSG00000112659.14 . BCM GRCh38.p13 chr6 43220466 43220466 + G G A Nonsense_Mutation SNP ENST00000252050.9 exon32 c.G6290A p.W2097X exonic ENSG00000112659.14 . stopgain ENSG00000112659.14:ENST00000252050.9:exon32:c.G6290A:p.W2097X 6p21.1 C3N-00709 . . . . . . . . . 6.6 . . . . D A . . . 0.324 . . . . . . . . . D D . . 11.040 58 0.993 D D 1.026 14.757 0.925 14.846 1.000 0.707 0.644 0.644 0.714 . 5.690 5.690 9.607 1.172 0.672 1.000 1.000 0.996 377 . . . . CUL9 111 0 314 48 0.132596685082873 TRUE TRUE ENSG00000112659.14 . BCM GRCh38.p13 chr6 43221738 43221738 + G G A Nonsense_Mutation SNP ENST00000252050.9 exon35 c.G6806A p.W2269X exonic ENSG00000112659.14 . stopgain ENSG00000112659.14:ENST00000252050.9:exon35:c.G6806A:p.W2269X 6p21.1 C3N-00709 . . . . . . . . . 5.6 . . . . D A . . . 0.405 . . . . . . . . . D D . . 9.598 51 0.994 D N 1.022 14.612 0.919 14.567 1.000 0.635 0.644 0.644 0.636 . 5.630 5.630 9.560 1.176 0.676 1.000 1.000 0.999 377 Zinc_finger,_RING-type;IBR_domain . . . CUL9 134 0 346 68 0.164251207729469 TRUE NA ENSG00000106086.20 . BCM GRCh38.p13 chr7 30046255 30046255 + - NA AC Frame_Shift_Ins INS ENST00000449726.6 exon3 c.203_204insAC p.Q69Hfs*6 exonic ENSG00000106086.20 . frameshift insertion ENSG00000106086.20:ENST00000449726.6:exon3:c.203_204insAC:p.Q69Hfs*6 7p14.3 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHA8 NA NA NA NA NA NA NA ENSG00000105851.11 . BCM GRCh38.p13 chr7 106868045 106868045 + G G A Missense_Mutation SNP ENST00000496166.6 exon2 c.G484A p.V162I exonic ENSG00000105851.11 . nonsynonymous SNV ENSG00000105851.11:ENST00000496166.6:exon2:c.G484A:p.V162I 7q22.3 C3N-00709 . . . . . . . . . 6.20 D T P B N D L T N 0.465 T T T 0.267 0.473 0.443 0.565 T T T T D D 2.285 21.500 0.994 D D 0.406 4.381 0.469 4.889 1.000 0.651 0.709 0.574 0.568 . 5.330 5.330 7.897 1.176 0.618 1.000 0.998 0.904 274 . . . ID=COSV63246379;OCCURENCE=1(liver),3(large_intestine),1(stomach),1(kidney),1(lung) PIK3CG 142 1 203 25 0.109649122807018 TRUE TRUE ENSG00000221866.9 . BCM GRCh38.p13 chr7 132508446 132508446 + G G A Missense_Mutation SNP ENST00000359827.7 exon2 c.C248T p.T83M exonic ENSG00000221866.9 . nonsynonymous SNV ENSG00000221866.9:ENST00000359827.7:exon2:c.C248T:p.T83M 7q32.3 C3N-00709 0.0001 0 0 0 0.0006 0.0001 0.0011 0.0001 rs199571283 8.20 D D D P U D L T D 0.433 T T T 0.259 . 0.220 1.334 T T T T T D 3.516 24.800 0.998 D D 0.550 5.447 0.525 5.397 1.000 0.707 0.590 0.618 0.714 . 5.390 5.390 6.429 1.176 0.676 1.000 0.795 0.548 688 Sema_domain . . ID=COSV58102572;OCCURENCE=2(large_intestine),1(stomach),1(kidney),1(urinary_tract),1(lung) PLXNA4 390 0 671 80 0.106524633821571 TRUE TRUE ENSG00000106123.12 . BCM GRCh38.p13 chr7 142868321 142868321 + G G T Missense_Mutation SNP ENST00000652003.1 exon14 c.G1999T p.D667Y exonic ENSG00000106123.12 . nonsynonymous SNV ENSG00000106123.12:ENST00000652003.1:exon14:c.G1999T:p.D667Y 7q34 C3N-00709 . . . . . . . . . 10.14 . D . . D D . . . 0.889 T T D 0.554 . 0.624 . T T D D D D 4.279 29.400 0.994 D D 0.782 8.434 0.673 7.274 1.000 0.758 0.616 0.692 0.655 . 4.210 4.210 9.948 1.176 0.676 1.000 0.603 0.704 715 Ephrin_receptor,_transmembrane_domain . . . EPHB6 542 1 596 131 0.18019257221458 TRUE TRUE ENSG00000275591.5 . BCM GRCh38.p13 chr8 6811607 6811607 + G G T Missense_Mutation SNP ENST00000618742.3 exon7 c.C1652A p.A551D exonic ENSG00000275591.5 . nonsynonymous SNV ENSG00000275591.5:ENST00000618742.3:exon7:c.C1652A:p.A551D 8p23.1 C3N-00709 . . . . . . . . . 0.8 . T . . . . L . . 0.084 . . . . . 0.252 . T T T T . T 1.669 16.820 0.527 N . . . . . 1.000 0.263 0.166 0.293 0.075 0.123 5.360 2.410 0.384 -0.165 -0.107 0.000 0.000 0.001 994 . . . . XKR5 170 0 230 52 0.184397163120567 TRUE TRUE ENSG00000147647.13 . BCM GRCh38.p13 chr8 104392849 104392849 + C C A Missense_Mutation SNP ENST00000351513.7 exon8 c.G1378T p.G460W exonic ENSG00000147647.13 . nonsynonymous SNV ENSG00000147647.13:ENST00000351513.7:exon8:c.G1378T:p.G460W 8q22.3 C3N-00709 . . . . . . . . . 19.20 D D D D D D H D D 0.983 D D D 0.864 0.890 0.988 0.678 T D D D D D 3.993 26.900 0.996 D D 0.682 6.872 0.717 8.077 1.000 0.554 0.547 0.618 0.613 . 6.020 6.020 7.568 1.026 0.599 1.000 0.789 0.570 551 . . . . DPYS 556 0 674 142 0.174019607843137 TRUE TRUE ENSG00000182197.12 . BCM GRCh38.p13 chr8 117822471 117822471 + T T C Missense_Mutation SNP ENST00000378204.7 exon5 c.A1411G p.N471D exonic ENSG00000182197.12 . nonsynonymous SNV ENSG00000182197.12:ENST00000378204.7:exon5:c.A1411G:p.N471D 8q24.11 C3N-00709 . . . . . . . . . 10.20 T T B B D D N D N 0.528 D D D 0.321 0.333 0.594 0.460 T T T T D D 2.627 22.700 0.993 D D -0.157 2.000 0.094 2.711 1.000 0.732 0.634 0.710 0.728 . 6.070 6.070 4.960 1.138 0.660 1.000 1.000 0.999 867 . . . . EXT1 221 0 311 41 0.116477272727273 TRUE TRUE ENSG00000187609.16 . BCM GRCh38.p13 chr9 137307035 137307035 + G G A Missense_Mutation SNP ENST00000340951.9 exon22 c.C2546T p.A849V exonic ENSG00000187609.16 . nonsynonymous SNV ENSG00000187609.16:ENST00000340951.9:exon22:c.C2546T:p.A849V 9q34.3 C3N-00709 0 0 0 0 0 0 0 0 rs372867176 1.19 T T B B . N N T N 0.064 T T D 0.061 . 0.105 0.058 T T T T T T 0.993 11.540 0.796 N N -1.049 0.354 -1.036 0.446 1.000 0.609 0.588 0.769 0.506 . 4.290 2.030 2.880 0.071 0.558 0.541 0.006 0.012 988 . . . . EXD3 194 1 264 30 0.102040816326531 TRUE NA ENSG00000078403.17 . BCM GRCh38.p13 chr10 21617134 21617134 + A A G Missense_Mutation SNP ENST00000307729.12 exon8 c.A626G p.N209S exonic ENSG00000078403.17 . nonsynonymous SNV ENSG00000078403.17:ENST00000307729.12:exon8:c.A626G:p.N209S 10p12.31 C3N-00709 8.534e-06 0 0 0 0 1.561e-05 0 0 rs768627047 5.20 T T B B D D N T N 0.286 T T T 0.057 0.408 0.366 0.109 T T T T D D 1.887 18.390 0.801 D N -0.210 1.850 0.033 2.476 1.000 0.732 0.634 0.659 0.728 . 5.690 5.690 4.642 1.312 0.754 1.000 1.000 0.999 898 . . . . MLLT10 60 0 69 8 0.103896103896104 TRUE NA ENSG00000196932.12 . BCM GRCh38.p13 chr10 61410426 61410426 + T T C Missense_Mutation SNP ENST00000399298.8 exon6 c.A1003G p.S335G exonic ENSG00000196932.12 . nonsynonymous SNV ENSG00000196932.12:ENST00000399298.8:exon6:c.A1003G:p.S335G 10q21.2 C3N-00709 . . . . . . . . . 0.19 T T B B N N L . N 0.076 T T T 0.056 0.100 0.092 0.166 T T T T T T 0.424 5.692 0.916 N N -1.059 0.345 -1.020 0.464 1.000 0.615 0.574 0.616 0.564 . 5.600 1.920 0.138 0.169 -0.203 0.000 0.005 0.003 783 . . . . TMEM26 357 1 409 82 0.167006109979633 TRUE TRUE ENSG00000048540.15 . BCM GRCh38.p13 chr12 16600683 16600683 + G G A Missense_Mutation SNP ENST00000537304.6 exon2 c.C178T p.L60F exonic ENSG00000048540.15 . nonsynonymous SNV ENSG00000048540.15:ENST00000537304.6:exon2:c.C178T:p.L60F 12p12.3 C3N-00709 . . . . . . . . . 18.20 D D P P D D M D D 0.447 D D D 0.586 0.489 0.956 . D D D D D D 2.839 23.100 0.999 D D 0.844 9.696 0.852 11.844 1.000 0.615 0.588 0.659 0.564 . 5.720 5.720 9.996 1.176 0.676 1.000 1.000 1.000 909 Zinc_finger,_LIM-type . . . LMO3 333 0 325 64 0.16452442159383 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-00709 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 305 0 362 67 0.156177156177156 TRUE TRUE ENSG00000139304.16 . BCM GRCh38.p13 chr12 80493292 80493292 + G G A Missense_Mutation SNP ENST00000644991.3 exon10 c.G1377A p.M459I exonic ENSG00000139304.16 . nonsynonymous SNV ENSG00000139304.16:ENST00000644991.3:exon10:c.G1377A:p.M459I 12q21.31 C3N-00709 . . . . . . . . . 0.13 . T . . . N . . . 0.101 T T T 0.092 0.472 0.040 . T T T T T T 0.635 7.848 0.638 N N -0.487 1.202 -0.612 1.028 0.017 0.487 0.547 0.574 0.564 . 5.730 -0.600 0.903 0.184 0.676 0.303 0.223 0.462 892 Fibronectin_type_III . . . PTPRQ 54 0 66 14 0.175 TRUE TRUE ENSG00000172766.19 . BCM GRCh38.p13 chr13 41367440 41367440 + - NA T Nonsense_Mutation SNP ENST00000379406.8 exon14 c.1542dupT p.E517* exonic ENSG00000172766.19 . stopgain ENSG00000172766.19:ENST00000379406.8:exon14:c.1542dupT:p.E517* 13q14.11 C3N-00709 8.463e-06 0 0 0 0 1.538e-05 0 0 rs749241638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAA16 NA NA NA NA NA NA NA ENSG00000136146.15 . BCM GRCh38.p13 chr13 48079966 48079966 + C C T Missense_Mutation SNP ENST00000258648.7 exon6 c.G518A p.R173Q exonic ENSG00000136146.15 . nonsynonymous SNV ENSG00000136146.15:ENST00000258648.7:exon6:c.G518A:p.R173Q 13q14.2 C3N-00709 . . . . . . . . . 19.19 D D D D D D M . D 0.711 D D D 0.705 0.673 0.648 1.187 D D D D D D 4.323 29.800 1.000 D D 0.873 10.388 0.849 11.718 1.000 0.707 0.725 0.725 0.714 . 5.600 5.600 7.727 1.023 0.599 1.000 0.993 0.916 918 . . . . MED4 233 0 313 75 0.193298969072165 TRUE NA ENSG00000068650.18 . BCM GRCh38.p13 chr13 112873581 112873581 + G G T Missense_Mutation SNP ENST00000487903.5 exon27 c.G3066T p.L1022F exonic ENSG00000068650.18 . nonsynonymous SNV ENSG00000068650.18:ENST00000487903.5:exon27:c.G3066T:p.L1022F 13q34 C3N-00709 . . . . . . . . . 11.20 D D P B D D M T D 0.486 T T D 0.407 0.507 0.686 0.587 T T D T D D 1.224 13.820 0.995 D N -0.753 0.726 -0.960 0.541 1.000 0.745 0.750 0.644 0.762 . 4.300 -6.040 0.247 -1.598 -1.216 0.995 0.007 0.018 988 P-type_ATPase,_C-terminal . . . ATP11A 108 0 139 17 0.108974358974359 TRUE TRUE ENSG00000100578.17 . BCM GRCh38.p13 chr14 58482672 58482672 + G G A Missense_Mutation SNP ENST00000619416.4 exon22 c.G3059A p.G1020D exonic ENSG00000100578.17 . nonsynonymous SNV ENSG00000100578.17:ENST00000619416.4:exon22:c.G3059A:p.G1020D 14q23.1 C3N-00709 0.0015 0 0 0.0184 0.0005 9.027e-05 0 0.0008 rs77860620 0.19 T T B B N N L T N 0.129 T T . 0.044 . 0.211 0.021 T T T T T T -0.016 1.237 0.140 N N -1.021 0.382 -1.045 0.435 0.930 0.744 0.710 0.630 0.613 . 4.330 1.480 -0.289 1.083 0.676 0.000 0.030 0.003 798 . . . ID=COSV54171338;OCCURENCE=1(biliary_tract),2(haematopoietic_and_lymphoid_tissue),1(upper_aerodigestive_tract) KIAA0586 65 0 106 16 0.131147540983607 TRUE TRUE ENSG00000139970.17 . BCM GRCh38.p13 chr14 59603875 59603875 + T T C Missense_Mutation SNP ENST00000267484.10 exon6 c.A2159G p.N720S exonic ENSG00000139970.17 . nonsynonymous SNV ENSG00000139970.17:ENST00000267484.10:exon6:c.A2159G:p.N720S 14q23.1 C3N-00709 . . . . . . . . . 13.20 D D D D D D M T D 0.888 T T D 0.433 0.635 0.302 1.512 T T T T D D 3.877 26.200 0.999 D D 0.742 7.744 0.722 8.187 1.000 0.638 0.588 0.653 0.564 . 5.320 5.320 8.017 1.138 0.665 1.000 1.000 0.989 707 Reticulon . . . RTN1 177 0 263 40 0.132013201320132 TRUE TRUE ENSG00000103313.12 . BCM GRCh38.p13 chr16 3254220 3254220 + G G A Missense_Mutation SNP ENST00000219596.5 exon2 c.C848T p.P283L exonic ENSG00000103313.12 . nonsynonymous SNV ENSG00000103313.12:ENST00000219596.5:exon2:c.C848T:p.P283L 16p13.3 C3N-00709 8.243e-06 0 0 0 0 1.499e-05 0 0 rs104895119 0.20 T T B B N N N T N 0.491 T T T 0.308 . 0.321 0.117 T T T T T T -0.332 0.267 0.653 N N -1.680 0.040 -1.752 0.041 1.000 0.554 0.588 0.578 0.542 . 3.860 -5.460 -0.801 -0.153 -0.703 0.000 0.423 0.050 784 . . . . MEFV 492 0 593 103 0.147988505747126 TRUE NA ENSG00000005844.18 . BCM GRCh38.p13 chr16 30510903 30510903 + A A T Missense_Mutation SNP ENST00000356798.11 exon23 c.A2642T p.N881I exonic ENSG00000005844.18 . nonsynonymous SNV ENSG00000005844.18:ENST00000356798.11:exon23:c.A2642T:p.N881I 16p11.2 C3N-00709 . . . . . . . . . 8.20 D D D D N N M T D 0.473 T T D 0.163 0.672 0.749 0.644 T T T T D T 1.789 17.650 0.988 N N -0.120 2.111 -0.249 1.673 0.948 0.672 0.702 0.547 0.530 . 4.000 4.000 1.809 0.287 0.754 0.033 0.299 0.158 277 Integrin_alpha-2 . . . ITGAL 137 0 175 21 0.107142857142857 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675217 7675219 + TTG TTG - In_Frame_Del DEL ENST00000269305.8 exon5 c.393_395del p.N131del exonic ENSG00000141510.17 . nonframeshift deletion ENSG00000141510.17:ENST00000269305.8:exon5:c.393_395del:p.N131del 17p13.1 C3N-00709 . . . . . . . . rs879254214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 285 0 304 85 0.218508997429306 TRUE TRUE ENSG00000129657.16 . BCM GRCh38.p13 chr17 77206745 77206745 + T T A Missense_Mutation SNP ENST00000436233.9 exon13 c.T1359A p.D453E exonic ENSG00000129657.16 . nonsynonymous SNV ENSG00000129657.16:ENST00000436233.9:exon13:c.T1359A:p.D453E 17q25.3 C3N-00709 . . . . . . . . . 14.20 D D D P D D M T D 0.858 T T D 0.401 0.642 0.661 1.389 D D D T D D 2.171 20.600 0.995 D N 0.022 2.589 -0.165 1.873 1.000 0.722 0.699 0.725 0.617 . 4.570 -3.230 -0.005 0.202 -0.128 0.949 1.000 0.982 988 CRAL-TRIO_lipid_binding_domain . . . SEC14L1 58 0 78 13 0.142857142857143 TRUE TRUE ENSG00000180777.14 . BCM GRCh38.p13 chr18 14808571 14808571 + C C A Missense_Mutation SNP ENST00000358984.9 exon25 c.C2305A p.L769I exonic ENSG00000180777.14 . nonsynonymous SNV ENSG00000180777.14:ENST00000358984.9:exon25:c.C2305A:p.L769I 18p11.21 C3N-00709 . . . . . . . . . 1.16 T T . . . N L T N 0.258 T T D 0.023 0.124 0.072 0.218 . T T T T T 0.746 8.874 0.972 N N -0.964 0.443 -1.103 0.372 0.000 0.487 0.574 0.574 0.564 . 0.493 0.493 -0.512 -0.684 0.225 0.000 0.000 0.038 923 . . . . ANKRD30B 164 0 190 28 0.128440366972477 NA TRUE ENSG00000105705.16 . BCM GRCh38.p13 chr19 19280211 19280218 + TCTGGGCG TCTGGGCG - Frame_Shift_Del DEL ENST00000247001.10 exon9 c.1317_1324del p.D439Efs*43 exonic ENSG00000105705.16 . frameshift deletion ENSG00000105705.16:ENST00000247001.10:exon9:c.1317_1324del:p.D439Efs*43 19p13.11 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUGP1 156 0 324 56 0.147368421052632 TRUE TRUE ENSG00000205076.4 . BCM GRCh38.p13 chr19 38771891 38771891 + C C T Missense_Mutation SNP ENST00000378626.4 exon3 c.G235A p.V79I exonic ENSG00000205076.4 . nonsynonymous SNV ENSG00000205076.4:ENST00000378626.4:exon3:c.G235A:p.V79I 19q13.2 C3N-00709 . . . . . . . . . 0.19 T T B B N N N T N 0.046 T T T 0.018 0.460 0.081 1.419 T T T T T . -0.212 0.482 0.949 N N -1.789 0.025 -1.838 0.029 0.998 0.516 0.547 0.577 0.613 . 4.220 -8.450 -2.012 -0.790 -0.477 0.000 0.451 0.027 636 Galectin,_carbohydrate_recognition_domain . . . LGALS7 138 0 239 23 0.0877862595419847 NA TRUE ENSG00000183709.8 . BCM GRCh38.p13 chr19 39268763 39268763 + G G A Missense_Mutation SNP ENST00000331982.6 exon2 c.G97A p.G33R exonic ENSG00000183709.8 . nonsynonymous SNV ENSG00000183709.8:ENST00000331982.6:exon2:c.G97A:p.G33R 19q13.2 C3N-00709 1.653e-05 0 0 0 0 3.003e-05 0 0 rs368918145 0.20 T T B B N N N T N 0.088 T T T 0.006 . 0.130 0.372 T T T T T T -1.458 0.001 0.263 N N -1.971 0.010 -2.039 0.011 0.186 0.598 0.590 0.596 0.530 . 3.080 -6.150 -2.838 -1.287 -1.051 0.000 0.000 0.001 636 . . . ID=COSV59594208;OCCURENCE=1(skin),1(prostate) IFNL2 247 0 457 82 0.152133580705009 NA TRUE ENSG00000248098.12 . BCM GRCh38.p13 chr19 41414074 41414074 + A A G Missense_Mutation SNP ENST00000269980.7 exon4 c.A401G p.N134S exonic ENSG00000248098.12;ENSG00000255730.5 . nonsynonymous SNV ENSG00000248098.12:ENST00000269980.7:exon4:c.A401G:p.N134S,ENSG00000255730.5:ENST00000540732.3:exon5:c.A503G:p.N168S 19q13.2 C3N-00709 . . . . . . . . . 12.20 T T P B D D N D D 0.904 T T D 0.587 0.515 0.949 0.293 T D D D D D 2.162 20.600 0.636 D D 0.288 3.720 0.395 4.322 1.000 0.732 0.725 0.744 0.714 . 4.810 4.810 8.567 1.312 0.756 1.000 1.000 0.997 856 Dehydrogenase,_E1_component . . . BCKDHA 504 0 555 122 0.180206794682422 TRUE TRUE ENSG00000104783.14 . BCM GRCh38.p13 chr19 43769018 43769018 + C C T Missense_Mutation SNP ENST00000648319.1 exon7 c.G1064A p.R355Q exonic ENSG00000104783.14 . nonsynonymous SNV ENSG00000104783.14:ENST00000648319.1:exon7:c.G1064A:p.R355Q 19q13.31 C3N-00709 8.237e-06 0 0 0 0 1.498e-05 0 0 rs200807029 16.20 D D D D N D M D N 0.457 D D D 0.702 . 0.986 1.591 T D D D D D 3.894 26.300 0.999 D N 0.519 5.186 0.460 4.811 1.000 0.672 0.702 0.590 0.542 . 4.400 4.400 1.006 1.026 0.599 0.008 1.000 0.997 895 Calmodulin-binding_domain . . . KCNN4 245 0 250 85 0.253731343283582 TRUE NA ENSG00000254415.3 . BCM GRCh38.p13 chr19 51646407 51646407 + G G A Missense_Mutation SNP ENST00000360844.6 exon2 c.C271T p.R91C exonic ENSG00000254415.3 . nonsynonymous SNV ENSG00000254415.3:ENST00000360844.6:exon2:c.C271T:p.R91C 19q13.41 C3N-00709 . . . . . . . . . 4.20 T T D P N N L T D 0.184 T T D 0.132 0.445 0.611 3.640 T T T T D T 2.406 22.100 0.997 N N -0.197 1.884 -0.380 1.408 0.409 0.615 0.634 0.574 0.564 . 3.190 2.080 0.522 0.896 0.590 0.518 0.039 0.041 982 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV55784412;OCCURENCE=1(liver),1(stomach),1(upper_aerodigestive_tract) SIGLEC14 86 0 56 27 0.325301204819277 NA TRUE ENSG00000167608.11 . BCM GRCh38.p13 chr19 54168639 54168639 + G G A Missense_Mutation SNP ENST00000617472.4 exon4 c.C502T p.R168C exonic ENSG00000167608.11 . nonsynonymous SNV ENSG00000167608.11:ENST00000617472.4:exon4:c.C502T:p.R168C 19q13.42 C3N-00709 2.839e-05 0 0 0 0 5.174e-05 0 0 rs764731755 9.17 D D . . U D . T D 0.633 T T D 0.429 0.711 0.579 . T T D T D T 4.115 27.900 0.999 D D 0.408 4.391 0.344 3.986 1.000 0.685 0.567 0.674 0.826 . 4.080 3.040 4.338 1.141 0.663 1.000 1.000 0.997 994 . . . . TMC4 98 0 107 16 0.130081300813008 TRUE NA ENSG00000198768.11 . BCM GRCh38.p13 chr20 58461013 58461013 + A A T Missense_Mutation SNP ENST00000371149.8 exon4 c.T1283A p.I428N exonic ENSG00000198768.11 . nonsynonymous SNV ENSG00000198768.11:ENST00000371149.8:exon4:c.T1283A:p.I428N 20q13.32 C3N-00709 7.416e-05 0 0 0 0 0 0 0.0005 rs149312027 3.20 T D B B N N L T N 0.587 T T T 0.065 . 0.081 1.297 T T T T T D 1.926 18.690 0.961 D N -0.227 1.801 -0.187 1.818 0.993 0.615 0.574 0.659 0.542 . 4.220 4.220 2.028 0.248 0.691 0.929 0.603 0.145 489 APCDD1_domain . . . APCDD1L 228 0 378 102 0.2125 TRUE TRUE ENSG00000101162.4 . BCM GRCh38.p13 chr20 59024232 59024232 + G G A Missense_Mutation SNP ENST00000217133.2 exon4 c.G805A p.G269S exonic ENSG00000101162.4 . nonsynonymous SNV ENSG00000101162.4:ENST00000217133.2:exon4:c.G805A:p.G269S 20q13.32 C3N-00709 . . . . . . . . . 11.20 D T D P N D L D D 0.869 T T D 0.651 . 0.901 0.752 T D T T D D 3.505 24.700 0.995 D D 0.242 3.493 0.220 3.285 1.000 0.537 0.380 0.374 0.509 . 5.340 4.390 9.996 0.198 -0.135 1.000 0.336 0.115 972 Tubulin/FtsZ,_2-layer_sandwich_domain . . . TUBB1 346 0 405 118 0.225621414913958 TRUE NA ENSG00000198445.4 . BCM GRCh38.p13 chr22 16592388 16592388 + C C T Missense_Mutation SNP ENST00000359963.4 exon1 c.G163A p.G55S exonic ENSG00000198445.4 . nonsynonymous SNV ENSG00000198445.4:ENST00000359963.4:exon1:c.G163A:p.G55S 22q11.1 C3N-00709 7.42e-05 0 0.0008 0 0 0 0 0 rs773674246 13.19 D D D D U D . D D 0.671 D D D 0.619 0.932 0.666 0.621 T D T D D T 2.590 22.600 0.998 N N 0.207 3.333 -0.006 2.339 0.014 0.487 0.574 0.547 0.564 . 2.000 2.000 3.056 0.688 0.393 0.261 0.177 0.100 994 . . . ID=COSV63461611;OCCURENCE=1(large_intestine) CCT8L2 293 0 287 71 0.198324022346369 NA TRUE ENSG00000102048.16 . BCM GRCh38.p13 chrX 15250537 15250537 + A A G Missense_Mutation SNP ENST00000380488.9 exon5 c.T461C p.I154T exonic ENSG00000102048.16 . nonsynonymous SNV ENSG00000102048.16:ENST00000380488.9:exon5:c.T461C:p.I154T Xp22.2 C3N-00709 1.141e-05 0.0001 0 0 0 0 0 0 rs750343277 2.19 T T B B N N M T N 0.204 T T D 0.273 0.722 0.441 0.336 T T T T T T -0.133 0.707 0.710 N . . . . . 0.041 . . . . . 5.790 -4.170 -0.283 0.042 0.751 0.000 0.000 0.001 314 Ankyrin_repeat-containing_domain . . . ASB9 96 0 109 53 0.327160493827161 TRUE NA ENSG00000068323.17 . BCM GRCh38.p13 chrX 49038089 49038089 + A A T Missense_Mutation SNP ENST00000315869.8 exon5 c.T806A p.I269N exonic ENSG00000068323.17 . nonsynonymous SNV ENSG00000068323.17:ENST00000315869.8:exon5:c.T806A:p.I269N Xp11.23 C3N-00709 . . . . . . . . . 15.19 D D D D D D M T D 0.549 T T D 0.576 0.539 0.752 1.895 D D D D D T 3.932 26.500 0.989 D . . . . . 1.000 . . . . . 5.890 5.890 7.399 1.307 0.749 1.000 1.000 1.000 36 . . . . TFE3 107 0 131 69 0.345 TRUE TRUE ENSG00000155659.15 . BCM GRCh38.p13 chrX 66033533 66033533 + T T C Missense_Mutation SNP ENST00000374737.9 exon2 c.A353G p.Q118R exonic ENSG00000155659.15 . nonsynonymous SNV ENSG00000155659.15:ENST00000374737.9:exon2:c.A353G:p.Q118R Xq12 C3N-00709 . . . . . . . . . 0.19 T T P B N N L T N 0.142 T T T 0.080 0.416 0.110 0.008 T T T T T T 0.788 9.270 0.770 N . . . . . 0.999 . . . . . 4.890 4.890 0.828 1.137 0.665 0.505 0.927 0.137 768 VSIG4,_immunoglobulin_variable_(IgV)-like_domain;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . VSIG4 72 0 117 7 0.0564516129032258 TRUE TRUE ENSG00000196569.12 . BCM GRCh38.p13 chr6 129454154 129454154 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000196569.12 ENST00000421865.2:exon47:c.6574-1G>C . . 6q22.33 C3N-00709 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.057 35 0.995 D . 1.259 30.695 1.123 29.994 1.000 0.054 0.060 0.060 0.063 0.984 5.660 5.660 9.602 1.176 0.676 1.000 0.994 0.998 776 . . . ID=COSV101370724;OCCURENCE=1(large_intestine) LAMA2 184 0 271 46 0.145110410094637 TRUE TRUE ENSG00000066135.13 . BCM GRCh38.p13 chr1 43667007 43667007 + C C T Silent SNP ENST00000372396.4 exon8 c.C831T p.A277A exonic ENSG00000066135.13 . synonymous SNV ENSG00000066135.13:ENST00000372396.4:exon8:c.C831T:p.A277A 1p34.2 C3N-00709 0.0002 0.0002 0 0 0 0 0 0.0011 rs146415834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM4A 283 0 321 64 0.166233766233766 TRUE NA ENSG00000143669.14 . BCM GRCh38.p13 chr1 235791861 235791861 + G G A Silent SNP ENST00000389793.7 exon12 c.C4381T p.L1461L exonic ENSG00000143669.14 . synonymous SNV ENSG00000143669.14:ENST00000389793.7:exon12:c.C4381T:p.L1461L 1q42.3 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LYST 289 0 402 89 0.181262729124236 TRUE TRUE ENSG00000071073.13 . BCM GRCh38.p13 chr2 98639948 98639948 + C C T Silent SNP ENST00000393487.6 exon12 c.G1182A p.A394A exonic ENSG00000071073.13 . synonymous SNV ENSG00000071073.13:ENST00000393487.6:exon12:c.G1182A:p.A394A 2q11.2 C3N-00709 0.0005 0.0050 0.0006 0.0002 0 1.501e-05 0 0 rs140644291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MGAT4A 129 0 151 34 0.183783783783784 TRUE NA ENSG00000206559.8 . BCM GRCh38.p13 chr3 28520996 28520996 + C C T Silent SNP ENST00000635992.1 exon5 c.C544T p.L182L exonic ENSG00000206559.8;ENSG00000283563.1 . synonymous SNV ENSG00000283563.1:ENST00000635992.1:exon5:c.C544T:p.L182L,ENSG00000206559.8:ENST00000383768.7:exon9:c.C789T:p.V263V 3p24.1 C3N-00709 8.279e-06 0 0 0.0001 0 0 0 0 rs753159242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZCWPW2 199 0 347 26 0.0697050938337802 TRUE NA ENSG00000112659.14 . BCM GRCh38.p13 chr6 43220815 43220815 + G G A Silent SNP ENST00000252050.9 exon33 c.G6492A p.Q2164Q exonic ENSG00000112659.14 . synonymous SNV ENSG00000112659.14:ENST00000252050.9:exon33:c.G6492A:p.Q2164Q 6p21.1 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUL9 286 0 729 122 0.143360752056404 TRUE TRUE ENSG00000112701.18 . BCM GRCh38.p13 chr6 75675889 75675889 + T T C Silent SNP ENST00000447266.7 exon13 c.T1456C p.L486L exonic ENSG00000112701.18 . synonymous SNV ENSG00000112701.18:ENST00000447266.7:exon13:c.T1456C:p.L486L 6q14.1 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SENP6 72 0 78 15 0.161290322580645 TRUE TRUE ENSG00000135541.21 . BCM GRCh38.p13 chr6 135394801 135394801 + T T C Silent SNP ENST00000265602.11 exon23 c.A3084G p.L1028L exonic ENSG00000135541.21 . synonymous SNV ENSG00000135541.21:ENST00000265602.11:exon23:c.A3084G:p.L1028L 6q23.3 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHI1 260 0 358 63 0.149643705463183 TRUE NA ENSG00000166886.13 . BCM GRCh38.p13 chr12 57091224 57091224 + C C T Silent SNP ENST00000300131.8 exon2 c.C183T p.F61F exonic ENSG00000166886.13 . synonymous SNV ENSG00000166886.13:ENST00000300131.8:exon2:c.C183T:p.F61F 12q13.3 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAB2 42 0 49 9 0.155172413793103 TRUE TRUE ENSG00000021645.19 . BCM GRCh38.p13 chr14 79280351 79280351 + G G A Silent SNP ENST00000557594.5 exon1 c.G60A p.G20G exonic ENSG00000021645.19 . synonymous SNV ENSG00000021645.19:ENST00000557594.5:exon1:c.G60A:p.G20G 14q31.1 C3N-00709 . . . . . . . . rs926969351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55326641;OCCURENCE=1(large_intestine) NRXN3 282 0 393 48 0.108843537414966 TRUE TRUE ENSG00000204103.4 . BCM GRCh38.p13 chr20 40688386 40688386 + C C T Silent SNP ENST00000373313.3 exon1 c.G465A p.L155L exonic ENSG00000204103.4 . synonymous SNV ENSG00000204103.4:ENST00000373313.3:exon1:c.G465A:p.L155L 20q12 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAFB 98 0 75 5 0.0625 TRUE NA ENSG00000180083.11 . BCM GRCh38.p13 chr20 45649374 45649374 + G G A Silent SNP ENST00000324384.4 exon4 c.C126T p.C42C exonic ENSG00000180083.11 . synonymous SNV ENSG00000180083.11:ENST00000324384.4:exon4:c.C126T:p.C42C 20q13.12 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WFDC11 95 0 149 52 0.258706467661692 TRUE TRUE ENSG00000174963.17 . BCM GRCh38.p13 chr3 147405440 147405440 + G G A Intron SNP NA NA NA NA intronic ENSG00000174963.17 . . . 3q24 C3N-00709 . . . . . . . . rs768212375 1.13 D T . . . . . T N 0.176 T T T 0.011 0.206 0.055 . . . T T T T 0.445 5.918 0.870 N N -1.155 0.261 -1.277 0.224 0.997 0.447 0.563 0.504 0.530 . 4.300 -0.789 -0.151 -0.681 -0.270 0.000 0.000 0.001 945 . . . . ZIC4 248 1 373 57 0.132558139534884 TRUE NA ENSG00000214035.3 . BCM GRCh38.p13 chr7 145010901 145010901 + T T G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000214035.3 . . . 7q35 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC073310.1 37 0 52 9 0.147540983606557 TRUE NA ENSG00000186960.12 . BCM GRCh38.p13 chr14 28791953 28791953 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000186960.12 . . . 14q12 C3N-00709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01551 60 0 56 13 0.188405797101449 TRUE NA ENSG00000036549.13 . BCM GRCh38.p13 chr1 77581871 77581871 + T T C Missense_Mutation SNP ENST00000370801.8 exon8 c.A1813G p.K605E exonic ENSG00000036549.13 . nonsynonymous SNV ENSG00000036549.13:ENST00000370801.8:exon8:c.A1813G:p.K605E 1p31.1 C3N-03007 . . . . . . . . . 6.15 T T . . D D . . N 0.355 T T T 0.031 0.177 0.068 0.357 T . T T D D 2.721 22.900 0.996 D D -0.100 2.174 0.074 2.628 1.000 0.707 0.725 0.609 0.714 . 5.470 5.470 5.853 1.138 0.665 1.000 1.000 0.998 637 . . . . AC118549.1 125 0 84 6 0.0666666666666667 TRUE TRUE ENSG00000118965.15 . BCM GRCh38.p13 chr2 19930549 19930549 + T T A Missense_Mutation SNP ENST00000345530.7 exon26 c.A3001T p.T1001S exonic ENSG00000118965.15 . nonsynonymous SNV ENSG00000118965.15:ENST00000345530.7:exon26:c.A3001T:p.T1001S 2p24.1 C3N-03007 . . . . . . . . . 2.20 T T B B N D N T N 0.225 T T T 0.042 0.278 0.545 0.102 T T T T T T 1.717 17.140 0.969 D N -0.486 1.205 -0.272 1.623 0.163 0.707 0.654 0.725 0.636 . 5.200 4.020 2.656 1.118 0.665 1.000 0.981 0.985 950 . . . . WDR35 314 0 287 30 0.0946372239747634 TRUE TRUE ENSG00000065802.12 . BCM GRCh38.p13 chr2 238435859 238435859 + G G A Missense_Mutation SNP ENST00000264607.9 exon3 c.G340A p.A114T exonic ENSG00000065802.12 . nonsynonymous SNV ENSG00000065802.12:ENST00000264607.9:exon3:c.G340A:p.A114T 2q37.3 C3N-03007 . . . . . . . . . 15.20 D D D P D D M T N 0.831 D D D 0.547 0.668 0.843 1.349 T T D D D D 3.986 26.900 0.999 D D 0.859 10.045 0.799 10.081 1.000 0.719 0.725 0.723 0.714 . 5.580 5.580 5.797 1.176 0.676 1.000 0.983 0.954 964 Ankyrin_repeat-containing_domain . . . ASB1 363 0 316 59 0.157333333333333 TRUE TRUE ENSG00000159650.9 . BCM GRCh38.p13 chr3 126508001 126508001 + C C T Missense_Mutation SNP ENST00000290868.7 exon5 c.G506A p.R169H exonic ENSG00000159650.9 . nonsynonymous SNV ENSG00000159650.9:ENST00000290868.7:exon5:c.G506A:p.R169H 3q21.3 C3N-03007 4.952e-05 9.653e-05 8.643e-05 0 0 6.01e-05 0 0 rs369545977 7.20 D D P B D N M T N 0.273 T T T 0.119 . 0.597 0.111 T T T T T D 1.830 17.950 0.996 D D -0.202 1.871 -0.287 1.590 0.554 0.487 0.574 0.547 0.613 . 3.910 3.030 1.624 -0.319 -1.388 0.971 0.026 0.004 843 Urocanase,_N-terminal_domain . . ID=COSV52029861;OCCURENCE=1(skin),1(thyroid) UROC1 246 0 224 13 0.0548523206751055 NA TRUE ENSG00000047662.5 . BCM GRCh38.p13 chr4 17639344 17639344 + G G T Missense_Mutation SNP ENST00000265018.4 exon14 c.C2572A p.R858S exonic ENSG00000047662.5 . nonsynonymous SNV ENSG00000047662.5:ENST00000265018.4:exon14:c.C2572A:p.R858S 4p15.32 C3N-03007 . . . . . . . . . 4.20 T D P P D N L T N 0.305 T T D 0.095 0.179 0.088 . T T T T D T 3.511 24.700 0.997 N N 0.168 3.165 0.168 3.030 0.212 0.660 0.514 0.696 0.714 . 5.020 4.080 3.361 1.083 0.618 0.882 0.494 0.372 661 . . . . FAM184B 261 0 213 20 0.0858369098712446 TRUE TRUE ENSG00000169435.14 . BCM GRCh38.p13 chr4 73585190 73585190 + T T C Missense_Mutation SNP ENST00000342081.7 exon6 c.A653G p.Y218C exonic ENSG00000169435.14 . nonsynonymous SNV ENSG00000169435.14:ENST00000342081.7:exon6:c.A653G:p.Y218C 4q13.3 C3N-03007 . . . . . . . . . 15.20 D D D D D D M T D 0.960 T T D 0.621 0.663 0.517 0.018 T T D D D D 4.337 29.900 0.998 D D 0.784 8.475 0.721 8.162 1.000 0.554 0.588 0.547 0.564 . 5.910 5.910 6.465 1.138 0.665 1.000 1.000 0.961 838 Ras-associating_(RA)_domain . . . RASSF6 74 0 48 4 0.0769230769230769 NA TRUE ENSG00000204956.5 . BCM GRCh38.p13 chr5 141332728 141332728 + G G A Missense_Mutation SNP ENST00000517417.2 exon1 c.G2044A p.A682T exonic ENSG00000204956.5 . nonsynonymous SNV ENSG00000204956.5:ENST00000517417.2:exon1:c.G2044A:p.A682T 5q31.3 C3N-03007 . . . . . . . . . 0.19 T T B B N N N T N 0.024 T T T 0.033 0.221 0.366 0.281 . T T T T T 0.091 2.008 0.877 N N -1.223 0.211 -1.305 0.206 0.043 0.549 0.574 0.602 0.616 . 3.870 -2.850 -2.036 -0.167 0.608 0.000 0.000 0.001 474 . . . ID=COSV65298235;OCCURENCE=2(thyroid) PCDHGA1 516 0 451 43 0.0870445344129555 NA TRUE ENSG00000074276.10 . BCM GRCh38.p13 chr5 176565690 176565690 + C C T Missense_Mutation SNP ENST00000510636.5 exon3 c.C71T p.P24L exonic ENSG00000074276.10 . nonsynonymous SNV ENSG00000074276.10:ENST00000510636.5:exon3:c.C71T:p.P24L 5q35.2 C3N-03007 . . . . . . . . . 16.19 D D D D . D M D D 0.872 D D D 0.719 0.639 0.759 0.646 T T D D D T 3.118 23.700 0.997 D D 0.618 6.115 0.393 4.312 1.000 0.497 0.590 0.578 0.613 . 4.800 4.800 4.145 1.026 0.599 0.879 0.009 0.040 373 . . . . CDHR2 218 0 178 12 0.0631578947368421 TRUE NA ENSG00000118491.10 . BCM GRCh38.p13 chr6 143937654 143937654 + G G A Missense_Mutation SNP ENST00000237275.9 exon7 c.G604A p.A202T exonic ENSG00000118491.10 . nonsynonymous SNV ENSG00000118491.10:ENST00000237275.9:exon7:c.G604A:p.A202T 6q24.2 C3N-03007 . . . . . . . . . 2.19 D D B B . N L T N 0.084 T T T 0.030 0.134 0.055 . T T T T T T 2.052 19.650 0.998 N N -0.648 0.902 -0.565 1.100 0.998 0.554 0.588 0.492 0.542 . 5.130 2.140 0.343 1.176 0.618 0.069 0.991 0.997 887 . . . . ZC2HC1B 111 0 75 5 0.0625 TRUE TRUE ENSG00000186340.15 . BCM GRCh38.p13 chr6 169248865 169248865 + G G T Missense_Mutation SNP ENST00000366787.7 exon4 c.C161A p.A54D exonic ENSG00000186340.15 . nonsynonymous SNV ENSG00000186340.15:ENST00000366787.7:exon4:c.C161A:p.A54D 6q27 C3N-03007 . . . . . . . . . 13.20 D D D P U D M T D 0.882 T T T 0.458 0.821 0.653 2.209 T D D D D D 3.297 24.100 0.995 D D 0.510 5.114 0.401 4.365 1.000 0.706 0.574 0.710 0.613 . 4.420 4.420 9.322 1.121 0.676 1.000 0.006 0.003 994 Laminin_G_domain . . . THBS2 180 0 151 11 0.0679012345679012 TRUE TRUE ENSG00000158528.12 . BCM GRCh38.p13 chr7 94911424 94911424 + G G A Missense_Mutation SNP ENST00000433881.5 exon2 c.G1311A p.M437I exonic ENSG00000158528.12 . nonsynonymous SNV ENSG00000158528.12:ENST00000433881.5:exon2:c.G1311A:p.M437I 7q21.3 C3N-03007 . . . . . . . . . 4.20 T T B B D D L T N 0.404 T T T 0.070 0.247 0.398 0.184 T T T T T D 1.735 17.270 0.940 D N -0.103 2.165 0.029 2.462 0.999 0.653 0.574 0.676 0.542 . 5.550 5.550 3.060 1.176 0.676 1.000 0.781 0.027 452 . . . ID=COSV56893578;OCCURENCE=1(skin) PPP1R9A 180 0 138 15 0.0980392156862745 TRUE TRUE ENSG00000104714.14 . BCM GRCh38.p13 chr8 731143 731143 + G G A Missense_Mutation SNP ENST00000262109.8 exon1 c.C19T p.H7Y exonic ENSG00000104714.14 . nonsynonymous SNV ENSG00000104714.14:ENST00000262109.8:exon1:c.C19T:p.H7Y 8p23.3 C3N-03007 . . . . . . . . . 2.20 D D P P U N N T N 0.343 T T T 0.059 . 0.418 0.011 T T T T T T 2.165 20.600 0.979 N N -0.408 1.366 -0.515 1.178 1.000 0.442 0.522 0.522 0.562 . 2.250 2.250 0.522 0.954 0.578 0.003 0.022 0.030 981 . . . . ERICH1 148 0 114 12 0.0952380952380952 TRUE TRUE ENSG00000104447.12 . BCM GRCh38.p13 chr8 115604820 115604820 + C C A Missense_Mutation SNP ENST00000640765.1 exon3 c.G1110T p.E370D exonic ENSG00000104447.12 . nonsynonymous SNV ENSG00000104447.12:ENST00000640765.1:exon3:c.G1110T:p.E370D 8q23.3 C3N-03007 . . . . . . . . . 3.20 T T B B D N N D N 0.079 T T T 0.228 0.157 0.182 0.084 T T T T T T 1.145 13.190 0.981 D N -0.458 1.262 -0.235 1.705 0.998 0.638 0.588 0.653 0.621 . 5.690 3.840 1.431 1.026 0.599 0.997 0.981 0.840 940 . . . . TRPS1 280 1 247 13 0.05 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971125 21971126 + GA GA - Frame_Shift_Del DEL ENST00000304494.9 exon2 c.233_234del p.L78Hfs*41 exonic ENSG00000147889.17 . frameshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.233_234del:p.L78Hfs*41 9p21.3 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 635 2 422 60 0.12448132780083 NA TRUE ENSG00000148408.13 . BCM GRCh38.p13 chr9 138102715 138102715 + C C T Missense_Mutation SNP ENST00000371372.6 exon38 c.C5227T p.R1743C exonic ENSG00000148408.13 . nonsynonymous SNV ENSG00000148408.13:ENST00000371372.6:exon38:c.C5227T:p.R1743C 9q34.3 C3N-03007 1.796e-05 0.0002 0 0 0 0 0 0 rs370345897 20.20 D D D D D D M D D 0.681 D D D 0.921 . 0.976 3.148 D D D D D D 4.544 32 0.999 D D 0.768 8.189 0.700 7.760 0.999 0.615 0.547 0.616 0.613 . 4.710 4.710 6.045 1.025 0.598 1.000 1.000 0.998 994 EF-hand_domain;Voltage-dependent_L-type_calcium_channel,_IQ-associated_domain . . ID=COSV53113250;OCCURENCE=1(cervix),1(large_intestine) CACNA1B 43 0 20 6 0.230769230769231 TRUE TRUE ENSG00000279012.2 . BCM GRCh38.p13 chr11 5324163 5324163 + G G T Nonsense_Mutation SNP ENST00000624187.1 exon1 c.C135A p.Y45X exonic ENSG00000279012.2 . stopgain ENSG00000279012.2:ENST00000624187.1:exon1:c.C135A:p.Y45X 11p15.4 C3N-03007 . . . . . . . . . 3.6 . . . . U D . . . . . . . . . . . . . D D . . 4.178 28.500 0.992 N N -0.019 2.445 -0.359 1.448 0.001 0.487 0.574 0.574 0.564 . 4.390 -1.450 -2.090 -0.224 -1.059 0.000 0.800 0.001 873 GPCR,_rhodopsin-like,_7TM . . . OR51B2 239 0 164 14 0.0786516853932584 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-03007 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 250 0 175 32 0.154589371980676 TRUE TRUE ENSG00000072041.17 . BCM GRCh38.p13 chr12 84861775 84861775 + C C T Missense_Mutation SNP ENST00000266682.10 exon12 c.G2050A p.E684K exonic ENSG00000072041.17 . nonsynonymous SNV ENSG00000072041.17:ENST00000266682.10:exon12:c.G2050A:p.E684K 12q21.31 C3N-03007 . . . . . . . . rs1006033978 13.20 D D D P N D M T N 0.779 T D D 0.354 0.364 0.833 0.702 T T D D D D 3.168 23.800 0.999 D D 0.573 5.662 0.557 5.726 1.000 0.638 0.574 0.653 0.564 . 5.850 5.850 7.447 1.026 0.599 1.000 0.351 0.011 877 . . . ID=COSV57019783;OCCURENCE=2(large_intestine),1(stomach),1(pancreas),1(skin) SLC6A15 115 0 72 9 0.111111111111111 TRUE TRUE ENSG00000100448.4 . BCM GRCh38.p13 chr14 24574740 24574740 + G G A Missense_Mutation SNP ENST00000216336.3 exon3 c.C274T p.R92C exonic ENSG00000100448.4 . nonsynonymous SNV ENSG00000100448.4:ENST00000216336.3:exon3:c.C274T:p.R92C 14q12 C3N-03007 . . . . . . . . . 10.20 D D D D N N L D D 0.185 T D D 0.199 0.540 0.929 0.673 T D T T D T 2.270 21.400 0.996 N N -0.472 1.233 -0.692 0.912 0.014 0.487 0.574 0.574 0.564 . 4.480 0.459 -0.889 1.176 -0.148 0.000 0.322 0.012 424 Serine_proteases,_trypsin_domain . . ID=COSV53535447;OCCURENCE=1(central_nervous_system),1(prostate) CTSG 349 0 326 31 0.0868347338935574 TRUE TRUE ENSG00000119630.14 . BCM GRCh38.p13 chr14 74946760 74946760 + C C A Missense_Mutation SNP ENST00000405431.2 exon5 c.G581T p.G194V exonic ENSG00000119630.14 . nonsynonymous SNV ENSG00000119630.14:ENST00000405431.2:exon5:c.G581T:p.G194V 14q24.3 C3N-03007 . . . . . . . . . 1.14 D T . . . N . . N 0.240 T T T 0.082 0.219 0.200 . . T T T T T 0.559 7.107 0.931 N N -0.586 1.013 -0.777 0.790 1.000 0.609 0.682 0.618 0.655 . 3.560 -1.830 0.350 0.122 0.596 0.000 0.125 0.178 447 . . . . PGF 92 1 72 10 0.121951219512195 TRUE TRUE ENSG00000137877.10 . BCM GRCh38.p13 chr15 41871396 41871396 + C C T Missense_Mutation SNP ENST00000320955.8 exon29 c.G5426A p.R1809H exonic ENSG00000137877.10 . nonsynonymous SNV ENSG00000137877.10:ENST00000320955.8:exon29:c.G5426A:p.R1809H 15q15.1 C3N-03007 0.0003 0 0.0029 0 0 0.0001 0 0 rs757454069 0.20 T T B B N N N T N 0.070 T T T 0.033 0.475 0.353 . T T T T T T -0.731 0.037 0.868 N N -1.644 0.046 -1.705 0.050 1.000 0.563 0.610 0.576 0.636 . 4.700 -5.410 -1.580 -1.314 -1.573 0.000 0.005 0.025 197 . . . . SPTBN5 77 0 45 6 0.117647058823529 TRUE NA ENSG00000169594.13 . BCM GRCh38.p13 chr15 83264116 83264116 + C C T Missense_Mutation SNP ENST00000345382.6 exon4 c.G1135A p.V379I exonic ENSG00000169594.13 . nonsynonymous SNV ENSG00000169594.13:ENST00000345382.6:exon4:c.G1135A:p.V379I 15q25.2 C3N-03007 . . . . . . . . . 12.20 D D D D D D M T N 0.662 T T T 0.197 0.300 0.402 0.565 D T T T D D 3.572 24.900 0.999 D D 0.914 11.430 0.890 13.312 1.000 0.638 0.563 0.653 0.636 . 5.750 5.750 7.842 1.026 0.599 1.000 0.994 0.975 430 Zinc_finger_C2H2-type . . ID=COSV61756473;OCCURENCE=1(large_intestine),1(endometrium) BNC1 226 0 168 20 0.106382978723404 TRUE TRUE ENSG00000168140.5 . BCM GRCh38.p13 chr16 4381829 4381829 + G G A Missense_Mutation SNP ENST00000304735.4 exon2 c.G952A p.V318I exonic ENSG00000168140.5 . nonsynonymous SNV ENSG00000168140.5:ENST00000304735.4:exon2:c.G952A:p.V318I 16p13.3 C3N-03007 2.714e-05 0 0 0.0001 0 0 0 0.0001 rs755829190 3.19 T T B B N D N T N 0.040 T T D 0.104 0.269 0.406 0.062 T T T T T . 1.051 12.250 0.948 D N -0.743 0.742 -0.669 0.944 1.000 0.696 0.551 0.723 0.605 . 5.670 -0.567 1.950 0.215 0.604 0.945 0.005 0.888 576 Cysteine-rich_flanking_region,_C-terminal . . ID=COSV52030715;OCCURENCE=1(large_intestine) VASN 235 0 256 24 0.0857142857142857 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674257 7674257 + A A G Missense_Mutation SNP ENST00000269305.8 exon7 c.T706C p.Y236H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.T706C:p.Y236H 17p13.1 C3N-03007 . . . . . . . . rs587782289 18.20 D D D D N D M D D 0.658 D D D 0.772 0.903 0.944 0.432 T D D D D D 4.611 32 0.998 D D 0.596 5.888 0.546 5.607 0.081 0.722 0.702 0.725 0.735 . 4.620 3.540 9.312 1.305 0.751 1.000 1.000 1.000 433 p53,_DNA-binding_domain . . ID=COSV52783032;OCCURENCE=1(breast),1(liver),2(large_intestine),1(biliary_tract),2(ovary),2(haematopoietic_and_lymphoid_tissue),1(pancreas),3(skin),1(prostate),2(lung),3(upper_aerodigestive_tract),1(eye) TP53 365 0 263 34 0.114478114478114 TRUE TRUE ENSG00000213417.3 . BCM GRCh38.p13 chr17 41065769 41065769 + C C T Missense_Mutation SNP ENST00000394015.3 exon1 c.G77A p.R26H exonic ENSG00000213417.3 . nonsynonymous SNV ENSG00000213417.3:ENST00000394015.3:exon1:c.G77A:p.R26H 17q21.2 C3N-03007 . . . . . . . . . 2.16 T T . . U N . T N 0.318 T T T 0.194 0.479 0.380 0.717 T T T T D . 2.712 22.900 0.992 D N 0.139 3.044 0.160 2.995 0.691 0.487 0.590 0.547 0.564 . 5.270 4.290 1.271 1.007 0.507 0.940 0.972 0.980 407 . . . . KRTAP2-4 157 0 150 24 0.137931034482759 NA TRUE ENSG00000170703.15 . BCM GRCh38.p13 chr17 48786300 48786300 + T T C Missense_Mutation SNP ENST00000393382.7 exon12 c.A1625G p.K542R exonic ENSG00000170703.15 . nonsynonymous SNV ENSG00000170703.15:ENST00000393382.7:exon12:c.A1625G:p.K542R 17q21.32 C3N-03007 . . . . . . . . . 2.13 . T . . N N . T . 0.296 T T T 0.221 . 0.085 0.339 T . T T D . 2.010 19.330 0.996 D N -0.145 2.037 -0.145 1.924 0.004 0.615 0.627 0.659 0.530 . 5.630 3.390 3.499 1.138 0.665 0.998 0.330 0.087 452 . . . . TTLL6 219 0 233 18 0.0717131474103586 TRUE TRUE ENSG00000124089.4 . BCM GRCh38.p13 chr20 56248940 56248940 + G G A Missense_Mutation SNP ENST00000243911.2 exon1 c.G97A p.A33T exonic ENSG00000124089.4 . nonsynonymous SNV ENSG00000124089.4:ENST00000243911.2:exon1:c.G97A:p.A33T 20q13.2 C3N-03007 8.244e-06 0 0 0.0001 0 0 0 0 rs770261378 0.18 T T . . N N N T N 0.052 T T T 0.300 . 0.410 0.151 T T T T T T -0.112 0.785 0.746 N N -1.337 0.146 -1.326 0.192 0.000 0.447 0.547 0.563 0.613 . 5.010 -1.940 0.852 -0.588 -0.754 0.005 0.065 0.540 982 . . . ID=COSV54763474;OCCURENCE=1(liver),1(pancreas),1(endometrium) MC3R 291 0 266 22 0.0763888888888889 TRUE TRUE ENSG00000154734.15 . BCM GRCh38.p13 chr21 26842526 26842526 + C C T Missense_Mutation SNP ENST00000284984.8 exon2 c.G890A p.S297N exonic ENSG00000154734.15 . nonsynonymous SNV ENSG00000154734.15:ENST00000284984.8:exon2:c.G890A:p.S297N 21q21.3 C3N-03007 . . . . . . . . . 16.19 D D D D . D M D D 0.915 D D D 0.600 0.733 0.639 0.850 T T D T D D 3.931 26.500 0.998 D D 0.761 8.059 0.743 8.639 1.000 0.628 0.574 0.672 0.639 . 5.440 5.440 4.495 1.026 0.599 1.000 1.000 0.999 828 Peptidase_M12B,_ADAM/reprolysin . . . ADAMTS1 418 0 346 25 0.0673854447439353 TRUE TRUE ENSG00000156299.13 . BCM GRCh38.p13 chr21 31225898 31225898 + C C T Missense_Mutation SNP ENST00000286827.7 exon8 c.G1637A p.C546Y exonic ENSG00000156299.13 . nonsynonymous SNV ENSG00000156299.13:ENST00000286827.7:exon8:c.G1637A:p.C546Y 21q22.11 C3N-03007 . . . . . . . . . 16.20 D D D D D D M T D 0.931 T T D 0.507 0.674 0.678 2.102 T D D D D D 3.458 24.600 0.987 D D 0.520 5.193 0.428 4.560 1.000 0.706 0.588 0.710 0.564 . 4.500 4.500 7.883 1.026 0.599 1.000 0.469 0.214 860 Pleckstrin_homology_domain . . ID=COSV99734315;OCCURENCE=1(lung) TIAM1 289 0 253 15 0.0559701492537313 TRUE TRUE ENSG00000183337.17 . BCM GRCh38.p13 chrX 40072815 40072815 + G G A Missense_Mutation SNP ENST00000378444.9 exon4 c.C2531T p.P844L exonic ENSG00000183337.17 . nonsynonymous SNV ENSG00000183337.17:ENST00000378444.9:exon4:c.C2531T:p.P844L Xp11.4 C3N-03007 2.283e-05 0.0001 0 0 0.0002 0 0 0 rs140780988 5.18 D D P B . N L T D 0.274 T T D 0.103 . 0.311 0.270 T T T T T T 1.640 16.630 0.965 D . . . . . 1.000 . . . . . 5.930 4.000 3.087 1.176 0.676 0.998 0.028 0.430 912 . . . . BCOR 116 1 94 16 0.145454545454545 TRUE NA ENSG00000250423.2 . BCM GRCh38.p13 chrX 119087341 119087341 + G G A Missense_Mutation SNP ENST00000402510.2 exon11 c.C3889T p.L1297F exonic ENSG00000250423.2 . nonsynonymous SNV ENSG00000250423.2:ENST00000402510.2:exon11:c.C3889T:p.L1297F Xq24 C3N-03007 . . . . . . . . . 0.18 T T P B . N N T N 0.103 T T T 0.014 0.192 0.055 0.034 T T T T T T -0.615 0.068 0.981 N . . . . . 0.989 . . . . . 3.970 -5.480 -0.561 -0.633 -0.699 0.000 0.005 0.010 498 . . . . KIAA1210 90 0 130 10 0.0714285714285714 TRUE TRUE ENSG00000138381.10 . BCM GRCh38.p13 chr2 189667835 189667835 + G G A Silent SNP ENST00000260952.9 exon5 c.G1536A p.S512S exonic ENSG00000138381.10;ENSG00000286165.1 . synonymous SNV ENSG00000138381.10:ENST00000260952.9:exon5:c.G1536A:p.S512S,ENSG00000286165.1:ENST00000606910.5:exon5:c.G693A:p.S231S 2q32.2 C3N-03007 0.0014 0 8.646e-05 0 0 2.998e-05 0.0022 0.0097 rs377666444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASNSD1 143 0 118 22 0.157142857142857 TRUE NA ENSG00000221955.10 . BCM GRCh38.p13 chr3 125190462 125190462 + C C T Silent SNP ENST00000393469.8 exon2 c.G111A p.V37V exonic ENSG00000221955.10 . synonymous SNV ENSG00000221955.10:ENST00000393469.8:exon2:c.G111A:p.V37V 3q21.2 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC12A8 132 0 162 11 0.0635838150289017 TRUE TRUE ENSG00000157927.17 . BCM GRCh38.p13 chr7 4800204 4800204 + G G A Silent SNP ENST00000399583.4 exon13 c.C2949T p.P983P exonic ENSG00000157927.17 . synonymous SNV ENSG00000157927.17:ENST00000399583.4:exon13:c.C2949T:p.P983P 7p22.1 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RADIL 214 0 234 24 0.0930232558139535 TRUE TRUE ENSG00000180210.15 . BCM GRCh38.p13 chr11 46726076 46726076 + G G A Silent SNP ENST00000311907.10 exon7 c.G777A p.E259E exonic ENSG00000180210.15 . synonymous SNV ENSG00000180210.15:ENST00000311907.10:exon7:c.G777A:p.E259E 11p11.2 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F2 310 1 312 27 0.079646017699115 TRUE TRUE ENSG00000172377.2 . BCM GRCh38.p13 chr11 58119202 58119202 + G G T Silent SNP ENST00000641439.1 exon3 c.C243A p.I81I exonic ENSG00000172377.2 . synonymous SNV ENSG00000172377.2:ENST00000641439.1:exon3:c.C243A:p.I81I 11q12.1 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR9I1 130 0 109 11 0.0916666666666667 TRUE TRUE ENSG00000198046.12 . BCM GRCh38.p13 chr19 56441711 56441711 + T T C Silent SNP ENST00000504904.8 exon7 c.A1284G p.A428A exonic ENSG00000198046.12 . synonymous SNV ENSG00000198046.12:ENST00000504904.8:exon7:c.A1284G:p.A428A 19q13.43 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF667 142 0 149 8 0.0509554140127389 TRUE NA ENSG00000088888.18 . BCM GRCh38.p13 chr20 3865817 3865817 + G G A Silent SNP ENST00000428216.4 exon7 c.G1293A p.P431P exonic ENSG00000088888.18 . synonymous SNV ENSG00000088888.18:ENST00000428216.4:exon7:c.G1293A:p.P431P 20p13 C3N-03007 5.827e-05 0 0 0 0 4.561e-05 0 0.0002 rs546826199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAVS 385 0 229 22 0.0876494023904383 TRUE NA ENSG00000131069.20 . BCM GRCh38.p13 chr20 34920667 34920667 + C C T Silent SNP ENST00000360596.7 exon9 c.C1101T p.Y367Y exonic ENSG00000131069.20 . synonymous SNV ENSG00000131069.20:ENST00000360596.7:exon9:c.C1101T:p.Y367Y 20q11.22 C3N-03007 1.663e-05 0 0 0.0002 0 0 0 0 rs747790024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53627601;OCCURENCE=1(large_intestine) ACSS2 89 0 60 12 0.166666666666667 TRUE TRUE ENSG00000159259.8 . BCM GRCh38.p13 chr21 36411563 36411563 + C C T Silent SNP ENST00000314103.6 exon11 c.C1020T p.Y340Y exonic ENSG00000159259.8 . synonymous SNV ENSG00000159259.8:ENST00000314103.6:exon11:c.C1020T:p.Y340Y 21q22.13 C3N-03007 8.237e-06 0 0 0 0 1.498e-05 0 0 rs370336150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHAF1B 206 0 139 13 0.0855263157894737 TRUE NA ENSG00000179698.14 . BCM GRCh38.p13 chr8 144111288 144111288 + G G A Intron SNP NA NA NA NA intronic ENSG00000179698.14 . . . 8q24.3 C3N-03007 . . . . . . . . rs544209807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR97 451 0 414 25 0.0569476082004556 TRUE NA ENSG00000166575.17 . BCM GRCh38.p13 chr11 87326357 87326357 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000166575.17 ENST00000305494.6:c.*5024C>T . . 11q14.2 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM135 344 0 270 17 0.0592334494773519 TRUE NA ENSG00000166446.15 . BCM GRCh38.p13 chr16 80639683 80639683 + A A C Intron SNP NA NA NA NA intronic ENSG00000166446.15 . . . 16q23.2 C3N-03007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDYL2 200 0 180 11 0.0575916230366492 TRUE NA ENSG00000130508.11 . BCM GRCh38.p13 chr2 1648987 1648987 + G G T Missense_Mutation SNP ENST00000252804.9 exon17 c.C2793A p.S931R exonic ENSG00000130508.11 . nonsynonymous SNV ENSG00000130508.11:ENST00000252804.9:exon17:c.C2793A:p.S931R 2p25.3 C3N-03665 . . . . . . . . . 9.20 D T P P D D M T D 0.654 T T D 0.492 0.620 0.767 0.536 T T T T D T 3.039 23.500 0.998 D D 0.417 4.450 0.384 4.245 1.000 0.707 0.574 0.725 0.714 . 5.660 3.800 2.008 1.121 0.676 1.000 1.000 0.963 804 Peroxidasin,_peroxidase_domain . . . PXDN 140 1 171 18 0.0952380952380952 TRUE TRUE ENSG00000115361.8 . BCM GRCh38.p13 chr2 210192859 210192859 + C C T Missense_Mutation SNP ENST00000233710.4 exon10 c.G1144A p.D382N exonic ENSG00000115361.8 . nonsynonymous SNV ENSG00000115361.8:ENST00000233710.4:exon10:c.G1144A:p.D382N 2q34 C3N-03665 1.654e-05 0 0 0 0 0 0 0.0001 rs774103658 10.20 D T P B N N L D N 0.324 D D D 0.370 0.617 0.976 0.325 T D T T D D 3.095 23.600 0.998 D D 0.091 2.851 0.212 3.240 0.036 0.554 0.547 0.618 0.613 . 6.030 4.200 2.963 1.026 0.599 1.000 0.996 0.973 709 Acyl-CoA_dehydrogenase/oxidase_C-terminal . . . ACADL 335 0 510 60 0.105263157894737 TRUE NA ENSG00000115414.20 . BCM GRCh38.p13 chr2 215431881 215431881 + A A C Missense_Mutation SNP ENST00000354785.10 exon4 c.T499G p.C167G exonic ENSG00000115414.20 . nonsynonymous SNV ENSG00000115414.20:ENST00000354785.10:exon4:c.T499G:p.C167G 2q35 C3N-03665 . . . . . . . . . 20.20 D D D D D D M D D 0.969 D D D 0.966 0.828 0.989 1.022 D D D D D D 4.859 33 0.987 D D 0.790 8.590 0.800 10.114 1.000 0.706 0.588 0.710 0.658 . 5.780 5.780 8.867 1.312 0.691 1.000 1.000 0.999 744 Fibronectin,_type_I . . . FN1 452 3 550 76 0.121405750798722 TRUE TRUE ENSG00000121871.4 . BCM GRCh38.p13 chr3 165190188 165190188 + C C A Nonsense_Mutation SNP ENST00000475390.2 exon2 c.G643T p.G215X exonic ENSG00000121871.4 . stopgain ENSG00000121871.4:ENST00000475390.2:exon2:c.G643T:p.G215X 3q26.1 C3N-03665 . . . . . . . . . 4.6 . . . . N D . . . 0.532 . . . . . . . . . D D . . 6.568 36 0.993 D N 1.215 25.109 1.086 25.550 1.000 0.554 0.590 0.602 0.564 . 5.860 5.860 7.905 1.026 0.599 1.000 0.998 0.996 902 . . . . SLITRK3 243 0 339 60 0.150375939849624 TRUE TRUE ENSG00000022355.18 . BCM GRCh38.p13 chr5 161854215 161854215 + G G T Missense_Mutation SNP ENST00000393943.10 exon3 c.G132T p.R44S exonic ENSG00000022355.18 . nonsynonymous SNV ENSG00000022355.18:ENST00000393943.10:exon3:c.G132T:p.R44S 5q34 C3N-03665 . . . . . . . . . 13.20 D D P P D D L T D 0.595 T T D 0.588 0.630 0.917 1.418 T D D D D D 3.178 23.800 0.997 D D 0.138 3.038 0.139 2.899 0.003 0.706 0.574 0.710 0.564 . 5.510 2.360 0.960 -0.103 0.618 1.000 0.998 0.997 963 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . GABRA1 277 0 353 41 0.104060913705584 TRUE TRUE ENSG00000087116.16 . BCM GRCh38.p13 chr5 179114148 179114148 + A A T Missense_Mutation SNP ENST00000251582.12 exon22 c.T3355A p.F1119I exonic ENSG00000087116.16 . nonsynonymous SNV ENSG00000087116.16:ENST00000251582.12:exon22:c.T3355A:p.F1119I 5q35.3 C3N-03665 . . . . . . . . . 1.19 T T B B N N L T N 0.127 T T T 0.047 0.377 0.319 0.577 T T T T T . 1.875 18.300 0.935 D N -0.497 1.183 -0.344 1.476 0.792 0.615 0.574 0.659 0.564 . 5.020 4.050 0.675 0.094 0.756 0.988 0.695 0.587 740 . . . . ADAMTS2 182 0 212 39 0.155378486055777 TRUE TRUE ENSG00000164818.16 . BCM GRCh38.p13 chr7 785546 785546 + C C T Missense_Mutation SNP ENST00000297440.11 exon13 c.C2461T p.P821S exonic ENSG00000164818.16 . nonsynonymous SNV ENSG00000164818.16:ENST00000297440.11:exon13:c.C2461T:p.P821S 7p22.3 C3N-03665 . . . . . . . . . 14.19 D D D D D D . T D 0.563 D T D 0.566 0.748 0.329 0.683 T T D D D D 3.348 24.300 0.999 D N 0.549 5.440 0.441 4.663 1.000 0.732 0.744 0.725 0.714 . 4.840 4.840 4.674 1.000 0.599 0.996 0.198 0.147 917 . . . ID=COSV99860295;OCCURENCE=1(skin) DNAAF5 301 0 375 53 0.123831775700935 TRUE TRUE ENSG00000157657.14 . BCM GRCh38.p13 chr9 114049070 114049070 + G G A Missense_Mutation SNP ENST00000374126.9 exon15 c.G1768A p.D590N exonic ENSG00000157657.14 . nonsynonymous SNV ENSG00000157657.14:ENST00000374126.9:exon15:c.G1768A:p.D590N 9q32 C3N-03665 . . . . . . . . . 10.20 D D D B D D N T N 0.443 T T D 0.149 0.185 0.180 0.891 T T T T D D 2.810 23.000 0.998 D D 0.430 4.534 0.461 4.819 1.000 0.707 0.610 0.725 0.714 . 5.140 5.140 9.232 1.176 0.676 1.000 0.643 0.754 772 . . . . ZNF618 338 0 404 60 0.129310344827586 TRUE NA ENSG00000148498.16 . BCM GRCh38.p13 chr10 34372521 34372521 + G G A Nonsense_Mutation SNP ENST00000374789.8 exon12 c.C1684T p.Q562X exonic ENSG00000148498.16 . stopgain ENSG00000148498.16:ENST00000374789.8:exon12:c.C1684T:p.Q562X 10p11.21 C3N-03665 . . . . . . . . . 4.6 . . . . N D . . . 0.956 . . . . . . . . . D D . . 8.885 46 0.998 D N 0.989 13.567 0.887 13.221 1.000 0.706 0.588 0.710 0.613 . 5.830 5.830 7.222 1.155 0.671 1.000 1.000 1.000 872 . . . . PARD3 200 0 269 28 0.0942760942760943 TRUE TRUE ENSG00000279395.3 . BCM GRCh38.p13 chr11 55811495 55811495 + C C A Missense_Mutation SNP ENST00000625203.2 exon1 c.C29A p.A10D exonic ENSG00000279395.3 . nonsynonymous SNV ENSG00000279395.3:ENST00000625203.2:exon1:c.C29A:p.A10D 11q12.1 C3N-03665 . . . . . . . . . 0.16 . . B B N N N . . . T T T 0.012 0.470 . . T T T T T T 1.156 13.280 0.961 N N -0.847 0.589 -0.899 0.622 0.000 0.487 0.574 0.574 0.564 . 4.320 2.330 -0.546 0.757 0.416 0.000 0.023 0.021 155 . . . . OR5L1 96 0 117 22 0.158273381294964 NA TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-03665 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 318 0 363 67 0.155813953488372 TRUE TRUE ENSG00000181234.9 . BCM GRCh38.p13 chr12 128669438 128669438 + G G A Missense_Mutation SNP ENST00000435159.2 exon5 c.G1327A p.A443T exonic ENSG00000181234.9 . nonsynonymous SNV ENSG00000181234.9:ENST00000435159.2:exon5:c.G1327A:p.A443T 12q24.32 C3N-03665 . . . . . . . . . 14.20 D D D D D D M T D 0.936 T T T 0.525 0.774 0.391 0.484 T T D D D D 3.849 26.100 0.999 D D 0.698 7.086 0.566 5.821 1.000 0.554 0.574 0.602 0.613 . 5.010 5.010 9.018 1.176 0.676 1.000 0.954 0.265 994 Transmembrane_protein_family_132,_middle_domain . . ID=COSV59412833;OCCURENCE=1(large_intestine),1(soft_tissue) TMEM132C 141 0 189 31 0.140909090909091 TRUE TRUE ENSG00000182652.3 . BCM GRCh38.p13 chr14 19747821 19747821 + C C T Missense_Mutation SNP ENST00000331723.1 exon1 c.C394T p.R132C exonic ENSG00000182652.3 . nonsynonymous SNV ENSG00000182652.3:ENST00000331723.1:exon1:c.C394T:p.R132C 14q11.2 C3N-03665 5.78e-05 0 0 0 0 0.0001 0 0 rs368729783 5.20 D D D P U N M T D 0.187 T T T 0.093 . 0.373 . T T T T T T 2.629 22.700 0.982 N N -0.085 2.222 -0.217 1.745 0.000 0.487 0.574 0.574 0.564 . 4.360 3.470 0.462 0.120 0.533 0.001 0.705 0.094 994 GPCR,_rhodopsin-like,_7TM . . ID=COSV59178530;OCCURENCE=1(endometrium) OR4Q3 354 0 453 42 0.0848484848484849 NA TRUE ENSG00000255346.10 . BCM GRCh38.p13 chr15 69031785 69031785 + C C T Missense_Mutation SNP ENST00000388866.8 exon4 c.C593T p.P198L exonic ENSG00000255346.10 . nonsynonymous SNV ENSG00000255346.10:ENST00000388866.8:exon4:c.C593T:p.P198L 15q23 C3N-03665 . . . . . . . . . 10.20 T T D D U D M T D 0.715 T T D 0.316 0.358 0.875 0.807 T T T T D D 3.609 25.100 0.995 D D 0.436 4.574 0.351 4.025 1.000 0.598 0.596 0.378 0.604 . 3.330 3.330 6.334 0.762 0.531 1.000 0.460 0.581 952 EF-hand_domain . . . NOX5 168 0 166 15 0.0828729281767956 TRUE TRUE ENSG00000168961.17 . BCM GRCh38.p13 chr17 27647347 27647347 + G G A Missense_Mutation SNP ENST00000395473.7 exon10 c.G836A p.R279H exonic ENSG00000168961.17 . nonsynonymous SNV ENSG00000168961.17:ENST00000395473.7:exon10:c.G836A:p.R279H 17q11.2 C3N-03665 0.0001 0 0.0007 0.0001 0 7.497e-05 0 0.0001 rs149003631 11.20 D D D P D D M T D 0.731 T T D 0.338 . 0.658 1.331 T T T T T D 3.661 25.300 0.999 D D 0.696 7.065 0.553 5.686 0.908 0.707 0.702 0.659 0.714 . 4.360 3.380 4.257 1.175 0.614 1.000 0.944 0.952 256 Galectin,_carbohydrate_recognition_domain . . ID=COSV56350050;OCCURENCE=1(central_nervous_system) LGALS9 669 2 759 233 0.234879032258065 NA TRUE ENSG00000108582.12 . BCM GRCh38.p13 chr17 30379218 30379218 + G G T Missense_Mutation SNP ENST00000225719.9 exon1 c.G238T p.A80S exonic ENSG00000108582.12 . nonsynonymous SNV ENSG00000108582.12:ENST00000225719.9:exon1:c.G238T:p.A80S 17q11.2 C3N-03665 . . . . . . . . . 4.20 T T B B N D N T N 0.252 T T D 0.071 0.725 0.168 1.287 D T T T T T 1.640 16.630 0.986 D N -0.075 2.255 0.042 2.510 1.000 0.524 0.219 0.231 0.658 . 4.220 4.220 0.474 1.046 0.577 0.003 0.989 0.949 620 Carboxypeptidase_D,__carboxypeptidase-like_domain_1;Peptidase_M14,_carboxypeptidase_A . . . CPD 360 0 521 75 0.125838926174497 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51065549 51065549 + G G A Missense_Mutation SNP ENST00000342988.8 exon9 c.G1082A p.R361H exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon9:c.G1082A:p.R361H 18q21.2 C3N-03665 . . . . . . . . rs377767347 20.20 D D D D D D M D D 0.870 D D D 0.955 0.987 0.998 3.229 D D D D D D 4.374 31 0.999 D D 0.941 12.166 0.912 14.263 1.000 0.707 0.725 0.725 0.714 . 5.860 5.860 7.959 1.176 0.676 1.000 1.000 0.999 904 SMAD_domain,_Dwarfin-type . . ID=COSV61684056;OCCURENCE=3(breast),1(liver),1(peritoneum),5(oesophagus),5(cervix),104(large_intestine),6(biliary_tract),5(stomach),3(urinary_tract),18(pancreas),1(skin),8(lung),1(thyroid),3(upper_aerodigestive_tract),3(small_intestine),2(endometrium) SMAD4 174 0 182 33 0.153488372093023 TRUE TRUE ENSG00000064687.13 . BCM GRCh38.p13 chr19 1047168 1047168 + C C G Missense_Mutation SNP ENST00000263094.11 exon15 c.C1857G p.I619M exonic ENSG00000064687.13 . nonsynonymous SNV ENSG00000064687.13:ENST00000263094.11:exon15:c.C1857G:p.I619M 19p13.3 C3N-03665 . . . . . . . . . 13.19 D D D D . N M D N 0.514 T D D 0.529 0.493 0.755 0.532 T D D T D D 2.854 23.100 0.994 D N 0.316 3.861 0.161 3.000 0.081 0.675 0.654 0.693 0.568 . 5.210 0.058 -0.070 0.882 0.522 0.305 0.993 0.936 988 . . . . ABCA7 287 0 371 54 0.127058823529412 TRUE TRUE ENSG00000160161.9 . BCM GRCh38.p13 chr19 19545435 19545435 + C C T Missense_Mutation SNP ENST00000291495.5 exon8 c.C2890T p.R964C exonic ENSG00000160161.9 . nonsynonymous SNV ENSG00000160161.9:ENST00000291495.5:exon8:c.C2890T:p.R964C 19p13.11 C3N-03665 . . . . . . . . . 7.20 D D D P N N L T D 0.503 T T D 0.120 0.305 0.469 0.965 T T T T D D 2.998 23.400 0.997 N N -0.139 2.054 -0.275 1.617 0.372 0.718 0.547 0.571 0.613 . 5.790 4.690 1.461 -0.005 0.524 0.001 0.005 0.425 432 . . . ID=COSV52274963;OCCURENCE=1(large_intestine) CILP2 200 1 256 29 0.101754385964912 TRUE TRUE ENSG00000160007.19 . BCM GRCh38.p13 chr19 46919943 46919943 + T T C Missense_Mutation SNP ENST00000672722.1 exon2 c.T1268C p.L423P exonic ENSG00000160007.19 . nonsynonymous SNV ENSG00000160007.19:ENST00000672722.1:exon2:c.T1268C:p.L423P 19q13.32 C3N-03665 . . . . . . . . . 15.18 D D . . D D M T D 0.955 T T D 0.519 0.425 0.805 2.087 D D D D D D 4.093 27.700 0.998 D D 0.873 10.368 0.857 12.018 1.000 0.707 0.725 0.725 0.714 . 6.030 6.030 8.017 1.138 0.665 1.000 0.999 0.978 884 . . . . ARHGAP35 328 0 384 53 0.121281464530892 TRUE TRUE ENSG00000198131.14 . BCM GRCh38.p13 chr19 58261325 58261325 + A A C Missense_Mutation SNP ENST00000269829.5 exon4 c.A719C p.N240T exonic ENSG00000198131.14 . nonsynonymous SNV ENSG00000198131.14:ENST00000269829.5:exon4:c.A719C:p.N240T 19q13.43 C3N-03665 . . . . . . . . . 0.19 T T B B . N N T N 0.146 T T T 0.012 0.292 0.179 0.020 T T T T T T 0.545 6.967 0.278 N N -1.434 0.104 -1.470 0.120 0.002 0.672 0.702 0.576 0.711 . 3.050 -0.392 0.433 -1.519 -0.634 0.003 0.000 0.001 964 . . . . ZNF544 176 0 183 34 0.15668202764977 TRUE TRUE ENSG00000101188.5 . BCM GRCh38.p13 chr20 62760061 62760061 + G G A Missense_Mutation SNP ENST00000370501.4 exon4 c.G1051A p.A351T exonic ENSG00000101188.5 . nonsynonymous SNV ENSG00000101188.5:ENST00000370501.4:exon4:c.G1051A:p.A351T 20q13.33 C3N-03665 . . . . . . . . . 1.20 T T B B N N N T N 0.047 T T T 0.079 . 0.465 0.295 T T T T T T 0.333 4.674 0.374 D N -0.992 0.413 -0.922 0.591 0.074 0.624 0.590 0.576 0.580 . 4.980 1.970 2.544 1.176 0.676 0.426 0.152 0.009 862 GPCR,_rhodopsin-like,_7TM . . ID=COSV65137923;OCCURENCE=1(stomach) NTSR1 246 0 252 37 0.1280276816609 TRUE TRUE ENSG00000143149.12 . BCM GRCh38.p13 chr1 165682979 165682979 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000143149.12 ENST00000354775.4:exon3:c.457+2T>C . . 1q24.1 C3N-03665 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.655 32 0.994 D . 1.054 15.719 0.869 12.506 0.933 0.359 0.340 0.175 0.221 0.749 4.750 4.750 9.085 1.312 0.756 1.000 0.732 0.871 900 . . . . ALDH9A1 99 0 141 23 0.140243902439024 TRUE TRUE ENSG00000115464.15 . BCM GRCh38.p13 chr2 61266168 61266168 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000115464.15 ENST00000398571.7:exon42:c.5434-1G>T . . 2p15 C3N-03665 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.405 34 0.994 D . 1.126 18.705 0.975 17.383 1.000 0.295 0.304 0.138 0.118 0.979 5.440 5.440 6.670 1.026 0.599 1.000 0.981 0.800 220 . . . . USP34 38 0 65 8 0.10958904109589 TRUE TRUE ENSG00000102893.16 . BCM GRCh38.p13 chr16 47696489 47696489 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000102893.16 ENST00000323584.10:exon29:c.3003+1G>A . . 16q12.1 C3N-03665 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.130 33 0.989 D . 0.979 13.264 0.768 9.232 1.000 0.295 0.304 0.084 0.079 0.903 4.980 4.020 9.874 1.176 0.676 1.000 0.220 0.090 166 . . . . PHKB 301 0 357 34 0.0869565217391304 TRUE TRUE ENSG00000130508.11 . BCM GRCh38.p13 chr2 1649464 1649464 + C C T Silent SNP ENST00000252804.9 exon17 c.G2316A p.E772E exonic ENSG00000130508.11 . synonymous SNV ENSG00000130508.11:ENST00000252804.9:exon17:c.G2316A:p.E772E 2p25.3 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PXDN 677 0 720 124 0.146919431279621 TRUE TRUE ENSG00000011566.15 . BCM GRCh38.p13 chr2 39286951 39286951 + G G A Silent SNP ENST00000263881.8 exon21 c.C1488T p.S496S exonic ENSG00000011566.15 . synonymous SNV ENSG00000011566.15:ENST00000263881.8:exon21:c.C1488T:p.S496S 2p22.1 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP4K3 114 0 156 25 0.138121546961326 TRUE TRUE ENSG00000185008.17 . BCM GRCh38.p13 chr3 77644843 77644843 + C C T Silent SNP ENST00000461745.5 exon25 c.C4074T p.S1358S exonic ENSG00000185008.17 . synonymous SNV ENSG00000185008.17:ENST00000461745.5:exon25:c.C4074T:p.S1358S 3p12.3 C3N-03665 3.313e-05 0 0 0 0 0 0 0.0002 rs771357490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ROBO2 321 0 310 45 0.126760563380282 TRUE NA ENSG00000084093.18 . BCM GRCh38.p13 chr4 56931450 56931450 + A A T Silent SNP ENST00000309042.12 exon4 c.A2592T p.S864S exonic ENSG00000084093.18 . synonymous SNV ENSG00000084093.18:ENST00000309042.12:exon4:c.A2592T:p.S864S 4q12 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REST 248 0 306 54 0.15 TRUE TRUE ENSG00000218336.9 . BCM GRCh38.p13 chr4 182688269 182688269 + C C T Silent SNP ENST00000511685.6 exon12 c.C2139T p.H713H exonic ENSG00000218336.9 . synonymous SNV ENSG00000218336.9:ENST00000511685.6:exon12:c.C2139T:p.H713H 4q35.1 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM3 224 0 288 31 0.0971786833855799 TRUE TRUE ENSG00000113088.6 . BCM GRCh38.p13 chr5 55031564 55031564 + C C T Silent SNP ENST00000231009.3 exon4 c.C564T p.N188N exonic ENSG00000113088.6 . synonymous SNV ENSG00000113088.6:ENST00000231009.3:exon4:c.C564T:p.N188N 5q11.2 C3N-03665 0.0083 0.0006 8.645e-05 0.0795 0.0048 0.0010 0.0088 0.0125 rs78739734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50245360;OCCURENCE=1(stomach),2(haematopoietic_and_lymphoid_tissue) GZMK 255 0 279 35 0.111464968152866 TRUE TRUE ENSG00000145779.8 . BCM GRCh38.p13 chr5 119392925 119392925 + T T C Silent SNP ENST00000504771.3 exon2 c.T141C p.S47S exonic ENSG00000145779.8 . synonymous SNV ENSG00000145779.8:ENST00000504771.3:exon2:c.T141C:p.S47S 5q23.1 C3N-03665 1.601e-05 0 0 0 0 0 0 9.814e-05 rs755004248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNFAIP8 351 1 441 68 0.133595284872299 TRUE NA ENSG00000253767.2 . BCM GRCh38.p13 chr5 141393248 141393248 + C C T Silent SNP ENST00000398604.2 exon1 c.C435T p.I145I exonic ENSG00000253767.2 . synonymous SNV ENSG00000253767.2:ENST00000398604.2:exon1:c.C435T:p.I145I 5q31.3 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53921889;OCCURENCE=3(skin),2(endometrium) PCDHGA8 231 0 285 45 0.136363636363636 TRUE TRUE ENSG00000177409.12 . BCM GRCh38.p13 chr7 93131238 93131238 + T T C Silent SNP ENST00000318238.9 exon5 c.A4734G p.A1578A exonic ENSG00000177409.12 . synonymous SNV ENSG00000177409.12:ENST00000318238.9:exon5:c.A4734G:p.A1578A 7q21.2 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD9L 44 0 55 8 0.126984126984127 TRUE TRUE ENSG00000106123.12 . BCM GRCh38.p13 chr7 142864160 142864160 + C C T Silent SNP ENST00000652003.1 exon7 c.C360T p.S120S exonic ENSG00000106123.12 . synonymous SNV ENSG00000106123.12:ENST00000652003.1:exon7:c.C360T:p.S120S 7q34 C3N-03665 7.538e-05 0.0004 0 0.0005 0 0 0 6.058e-05 rs533330481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67419655;OCCURENCE=1(large_intestine) EPHB6 659 0 880 106 0.107505070993915 TRUE NA ENSG00000205442.12 . BCM GRCh38.p13 chr9 24545225 24545225 + A A G Silent SNP ENST00000543880.6 exon2 c.T288C p.N96N exonic ENSG00000205442.12 . synonymous SNV ENSG00000205442.12:ENST00000543880.6:exon2:c.T288C:p.N96N 9p21.3 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IZUMO3 165 0 183 23 0.111650485436893 TRUE TRUE ENSG00000171435.14 . BCM GRCh38.p13 chr12 117525064 117525064 + G G A Silent SNP ENST00000339824.7 exon14 c.C2007T p.G669G exonic ENSG00000171435.14 . synonymous SNV ENSG00000171435.14:ENST00000339824.7:exon14:c.C2007T:p.G669G 12q24.22 C3N-03665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56678389;OCCURENCE=1(stomach) KSR2 153 0 154 30 0.16304347826087 TRUE TRUE ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499071 65499071 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3N-03665 6.213e-05 0.0001 0.0002 0 0 6.518e-05 0 0 rs540960944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 155 0 182 22 0.107843137254902 TRUE NA ENSG00000205754.12 . BCM GRCh38.p13 chr12 21052115 21052115 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000205754.12 . . . 12p12.2 C3N-03665 . . . . . . . . . 2.19 T T B B N N M T D 0.240 T T T 0.090 0.326 0.061 0.006 . T T T T T 1.142 13.160 0.820 N N -0.937 0.475 -0.989 0.502 0.000 0.487 0.574 0.574 0.564 . 3.090 2.150 0.556 0.986 0.507 0.000 0.021 0.064 923 Major_facilitator_superfamily_domain . . . SLCO1B7 153 0 179 26 0.126829268292683 TRUE NA ENSG00000265690.7 . BCM GRCh38.p13 chr16 67164515 67164515 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000265690.7 ENST00000580114.5:c.*233G>A . . 16q22.1 C3N-03665 . . . . . . . . . 2.12 D . . . . D . . N . T T . 0.126 0.138 0.314 . . T T T T T 0.767 9.075 0.855 N N -0.242 1.763 -0.351 1.462 1.000 0.658 0.707 0.608 0.621 . 3.660 3.660 0.156 0.041 -0.123 0.000 0.001 0.053 46 . . . . AC074143.1 89 0 104 14 0.11864406779661 TRUE TRUE ENSG00000074964.17 . BCM GRCh38.p13 chr1 17697189 17697189 + C C T Missense_Mutation SNP ENST00000361221.8 exon29 c.C3649T p.P1217S exonic ENSG00000074964.17 . nonsynonymous SNV ENSG00000074964.17:ENST00000361221.8:exon29:c.C3649T:p.P1217S 1p36.13 C3L-01598 . . . . . . . . . 15.20 D D D D D D M T D 0.605 T T D 0.396 0.446 0.758 0.952 T T D D D D 3.817 25.900 0.999 D D 0.793 8.638 0.746 8.710 1.000 0.632 0.610 0.780 0.568 . 4.890 4.890 7.231 1.022 0.596 1.000 0.990 0.976 873 . . . . ARHGEF10L 146 0 538 32 0.056140350877193 TRUE TRUE ENSG00000122482.21 . BCM GRCh38.p13 chr1 90939345 90939345 + T T C Missense_Mutation SNP ENST00000337393.10 exon3 c.A2009G p.Q670R exonic ENSG00000122482.21 . nonsynonymous SNV ENSG00000122482.21:ENST00000337393.10:exon3:c.A2009G:p.Q670R 1p22.2 C3L-01598 . . . . . . . . . 6.20 D T P B D D L T N 0.505 T T D 0.165 0.231 0.368 0.646 T T T T D T 2.871 23.200 0.991 D N 0.253 3.548 0.351 4.028 0.999 0.707 0.725 0.702 0.714 . 6.020 4.840 2.226 1.138 0.665 1.000 0.996 0.995 908 . . . . ZNF644 634 0 1007 81 0.0744485294117647 TRUE TRUE ENSG00000116299.17 . BCM GRCh38.p13 chr1 109164616 109164616 + C C T Missense_Mutation SNP ENST00000369939.8 exon3 c.C392T p.P131L exonic ENSG00000116299.17 . nonsynonymous SNV ENSG00000116299.17:ENST00000369939.8:exon3:c.C392T:p.P131L 1p13.3 C3L-01598 . . . . . . . . . 14.20 D D D D N D M T D 0.964 T T D 0.556 0.676 0.730 0.744 T T D D D D 3.841 26.000 0.996 D D 0.868 10.257 0.868 12.444 1.000 0.615 0.492 0.659 0.542 . 5.920 5.920 7.905 1.026 0.599 1.000 1.000 0.997 621 . . . . KIAA1324 192 0 410 26 0.0596330275229358 TRUE TRUE ENSG00000197106.7 . BCM GRCh38.p13 chr1 110167078 110167078 + C C T Missense_Mutation SNP ENST00000331565.5 exon2 c.C149T p.A50V exonic ENSG00000197106.7 . nonsynonymous SNV ENSG00000197106.7:ENST00000331565.5:exon2:c.C149T:p.A50V 1p13.3 C3L-01598 2.748e-05 0.0001 0 0.0001 0 1.655e-05 0 0 rs770557467 0.20 T T B B N N N T N 0.080 T T T 0.035 . 0.441 0.551 T T T T T T 0.275 3.992 0.963 N N -1.029 0.374 -1.017 0.468 0.058 0.497 0.590 0.547 0.542 . 4.550 0.103 0.671 -1.307 -0.182 0.027 0.222 0.403 435 . . . ID=COSV58996157;OCCURENCE=1(breast) SLC6A17 246 1 589 56 0.0868217054263566 TRUE TRUE ENSG00000160688.19 . BCM GRCh38.p13 chr1 154983902 154983902 + G G A Missense_Mutation SNP ENST00000292180.8 exon1 c.G208A p.A70T exonic ENSG00000160688.19 . nonsynonymous SNV ENSG00000160688.19:ENST00000292180.8:exon1:c.G208A:p.A70T 1q21.3 C3L-01598 . . . . . . . . . 6.19 D D B B N D L . N 0.269 T T T 0.371 0.226 0.599 0.361 T T T T D T 2.904 23.200 0.999 D D 0.012 2.555 0.192 3.144 1.000 0.543 0.522 0.686 0.639 . 5.350 5.350 2.829 1.176 0.676 1.000 0.937 0.798 379 . . . . FLAD1 91 0 170 13 0.0710382513661202 TRUE TRUE ENSG00000116539.13 . BCM GRCh38.p13 chr1 155482190 155482190 + C C T Missense_Mutation SNP ENST00000368346.7 exon3 c.G680A p.C227Y exonic ENSG00000116539.13 . nonsynonymous SNV ENSG00000116539.13:ENST00000368346.7:exon3:c.G680A:p.C227Y 1q22 C3L-01598 . . . . . . . . . 17.20 D D D D D D N D N 0.820 D D D 0.467 0.192 0.730 1.062 D T D D D D 3.609 25.100 0.996 D D 0.518 5.181 0.550 5.649 1.000 0.719 0.723 0.609 0.636 . 4.740 4.740 5.984 1.026 0.599 1.000 1.000 0.998 52 . . . . ASH1L 366 0 527 60 0.10221465076661 TRUE NA ENSG00000155816.20 . BCM GRCh38.p13 chr1 240123338 240123338 + C C A Nonsense_Mutation SNP ENST00000319653.14 exon2 c.C1775A p.S592X exonic ENSG00000155816.20 . stopgain ENSG00000155816.20:ENST00000319653.14:exon2:c.C1775A:p.S592X 1q43 C3L-01598 . . . . . . . . . 4.6 . . . . N A . . . 0.869 . . . . . . . . . D D . . 8.150 41 0.997 D N 0.812 9.019 0.637 6.723 1.000 0.554 0.574 0.608 0.621 . 5.690 5.690 3.114 0.947 0.599 0.992 0.625 0.133 976 DEP_domain . . . FMN2 122 0 217 27 0.110655737704918 TRUE TRUE ENSG00000115423.19 . BCM GRCh38.p13 chr2 84621290 84621290 + G G C Missense_Mutation SNP ENST00000389394.8 exon25 c.G3892C p.A1298P exonic ENSG00000115423.19 . nonsynonymous SNV ENSG00000115423.19:ENST00000389394.8:exon25:c.G3892C:p.A1298P 2p11.2 C3L-01598 . . . . . . . . . 8.18 T . D P . N M T D 0.647 T T D 0.378 0.763 0.591 0.248 T T D T D T 3.073 23.600 0.997 D D 0.530 5.278 0.516 5.308 0.001 0.549 0.574 0.598 0.616 . 5.020 4.130 3.061 1.089 0.676 1.000 1.000 0.998 699 Dynein_heavy_chain,_domain-2 . . . DNAH6 323 0 597 58 0.0885496183206107 TRUE TRUE ENSG00000196460.14 . BCM GRCh38.p13 chr2 101466790 101466790 + G G A Missense_Mutation SNP ENST00000428343.6 exon2 c.C59T p.A20V exonic ENSG00000196460.14 . nonsynonymous SNV ENSG00000196460.14:ENST00000428343.6:exon2:c.C59T:p.A20V 2q11.2 C3L-01598 . . . . . . . . . 11.17 T D D P . N . D N 0.408 D D D 0.506 0.255 0.597 0.000 T . D D D D 2.696 22.800 0.999 D N 0.468 4.798 0.412 4.448 1.000 0.495 0.590 0.527 0.751 . 5.200 5.200 3.529 1.176 0.676 1.000 0.441 0.628 881 DNA-binding_RFX-type_winged-helix_domain . . . RFX8 369 0 646 50 0.0718390804597701 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178739848 178739848 + A A T Missense_Mutation SNP ENST00000591111.5 exon46 c.T12434A p.V4145D exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon46:c.T12434A:p.V4145D 2q31.2 C3L-01598 . . . . . . . . . 4.14 D . . . . D . T N 0.298 T T D 0.167 0.553 0.544 0.139 T . T T T T 1.793 17.680 0.661 N D -0.309 1.592 -0.190 1.809 1.000 0.487 0.574 0.574 0.564 . 5.560 5.560 4.505 1.312 0.756 0.564 0.270 0.603 341 . . . . TTN 543 0 689 44 0.0600272851296044 TRUE TRUE ENSG00000155749.12 . BCM GRCh38.p13 chr2 201342410 201342410 + G G A Missense_Mutation SNP ENST00000405148.6 exon7 c.C484T p.R162C exonic ENSG00000155749.12 . nonsynonymous SNV ENSG00000155749.12:ENST00000405148.6:exon7:c.C484T:p.R162C 2q33.1 C3L-01598 8.248e-06 0 0 0 0 1.5e-05 0 0 rs144590707 9.20 D D D D N D M T D 0.355 T T T 0.106 . 0.644 0.092 T T T T D D 3.733 25.500 0.999 N N -0.076 2.253 -0.192 1.806 0.029 0.554 0.574 0.547 0.621 . 4.590 3.690 2.639 0.245 0.676 0.068 0.962 0.705 602 . . . . FLACC1 247 0 384 30 0.072463768115942 TRUE NA ENSG00000168016.14 . BCM GRCh38.p13 chr3 36832939 36832939 + C C T Missense_Mutation SNP ENST00000429976.5 exon21 c.G6512A p.R2171H exonic ENSG00000168016.14 . nonsynonymous SNV ENSG00000168016.14:ENST00000429976.5:exon21:c.G6512A:p.R2171H 3p22.2 C3L-01598 1.784e-05 0 0 0.0001 0 1.613e-05 0 0 rs370553712 8.20 D D D P D N M T N 0.595 T T T 0.099 . 0.508 0.763 T T T T D D 3.760 25.700 0.999 D N 0.439 4.595 0.443 4.675 0.911 0.615 0.634 0.659 0.655 . 5.160 5.160 3.128 1.026 0.599 0.982 0.997 0.999 744 . . . ID=COSV57155336;OCCURENCE=1(kidney) TRANK1 259 0 366 32 0.0804020100502513 TRUE TRUE ENSG00000168038.11 . BCM GRCh38.p13 chr3 41717744 41717744 + C C A Missense_Mutation SNP ENST00000301831.9 exon23 c.G2439T p.E813D exonic ENSG00000168038.11 . nonsynonymous SNV ENSG00000168038.11:ENST00000301831.9:exon23:c.G2439T:p.E813D 3p22.1 C3L-01598 . . . . . . . . . 4.20 T T D P U N M T N 0.477 T T T 0.333 0.243 0.640 0.061 T T T T D T 1.929 18.710 0.991 D N -0.561 1.059 -0.719 0.872 0.084 0.638 0.588 0.653 0.568 . 5.450 -7.550 0.105 -1.177 -0.780 0.973 0.715 0.978 760 . . . . ULK4 113 0 215 31 0.126016260162602 TRUE TRUE ENSG00000144821.10 . BCM GRCh38.p13 chr3 108416880 108416880 + A A G Missense_Mutation SNP ENST00000273353.4 exon30 c.T3940C p.S1314P exonic ENSG00000144821.10 . nonsynonymous SNV ENSG00000144821.10:ENST00000273353.4:exon30:c.T3940C:p.S1314P 3q13.13 C3L-01598 . . . . . . . . . 13.19 D D D D . D M T D 0.441 D D D 0.385 0.625 0.799 0.505 T D T T D D 2.478 22.400 0.990 N N -0.284 1.652 -0.548 1.125 0.003 0.487 0.574 0.547 0.564 . 4.500 0.367 0.210 -0.099 -0.208 0.129 0.347 0.585 354 Myosin_tail . . . MYH15 288 0 460 35 0.0707070707070707 TRUE TRUE ENSG00000113790.11 . BCM GRCh38.p13 chr3 185229455 185229455 + G G A Missense_Mutation SNP ENST00000231887.8 exon4 c.C440T p.A147V exonic ENSG00000113790.11 . nonsynonymous SNV ENSG00000113790.11:ENST00000231887.8:exon4:c.C440T:p.A147V 3q27.2 C3L-01598 . . . . . . . . . 4.20 T T B B N D L T N 0.304 T T T 0.073 0.585 0.273 0.084 T T T T D D 2.335 21.800 0.994 D N -0.107 2.153 0.057 2.566 0.602 0.638 0.588 0.653 0.668 . 6.070 4.270 3.844 0.245 0.671 1.000 1.000 0.993 679 . . . . EHHADH 48 0 95 5 0.05 TRUE NA ENSG00000155269.12 . BCM GRCh38.p13 chr4 8581038 8581038 + C C T Missense_Mutation SNP ENST00000382487.5 exon1 c.C56T p.A19V exonic ENSG00000155269.12 . nonsynonymous SNV ENSG00000155269.12:ENST00000382487.5:exon1:c.C56T:p.A19V 4p16.1 C3L-01598 2.411e-05 0 0 0 0 4.351e-05 0 0 . 6.20 D D D B U D L T N 0.251 T T T 0.167 0.623 0.475 0.045 T T T T D T 2.376 22.000 0.981 D N -0.126 2.095 -0.244 1.684 1.000 0.598 0.547 0.504 0.639 . 2.390 2.390 4.831 0.686 0.454 0.998 0.002 0.057 988 . . . ID=COSV66763155;OCCURENCE=2(large_intestine) GPR78 148 0 298 30 0.0914634146341463 TRUE TRUE ENSG00000215612.8 . BCM GRCh38.p13 chr4 8867842 8867842 + C C T Missense_Mutation SNP ENST00000400677.5 exon2 c.G898A p.A300T exonic ENSG00000215612.8 . nonsynonymous SNV ENSG00000215612.8:ENST00000400677.5:exon2:c.G898A:p.A300T 4p16.1 C3L-01598 . . . . . . . . rs1050213588 3.19 T T B B . N N D N 0.191 T T D 0.135 0.335 0.799 0.893 D T T T T T 0.981 11.380 0.992 N N -0.969 0.438 -0.936 0.572 0.744 0.598 0.590 0.616 0.639 . 1.700 -0.008 0.126 0.687 0.473 0.002 0.223 0.098 . . . . . HMX1 17 0 58 6 0.09375 TRUE NA ENSG00000163736.4 . BCM GRCh38.p13 chr4 73987956 73987956 + C C T Missense_Mutation SNP ENST00000296028.4 exon1 c.G148A p.E50K exonic ENSG00000163736.4 . nonsynonymous SNV ENSG00000163736.4:ENST00000296028.4:exon1:c.G148A:p.E50K 4q13.3 C3L-01598 . . . . . . . . . 0.19 T T B B . N N T N 0.137 T T T 0.016 0.348 0.362 0.017 T T T T T T 2.268 21.400 0.503 N N -1.055 0.348 -1.172 0.307 1.000 0.581 0.563 0.565 0.564 . 2.230 -0.757 -0.421 -0.440 0.469 0.000 0.000 0.020 240 . . . . PPBP 218 0 371 33 0.0816831683168317 TRUE NA ENSG00000152208.13 . BCM GRCh38.p13 chr4 93422960 93422960 + G G C Missense_Mutation SNP ENST00000282020.9 exon10 c.G1537C p.V513L exonic ENSG00000152208.13 . nonsynonymous SNV ENSG00000152208.13:ENST00000282020.9:exon10:c.G1537C:p.V513L 4q22.2 C3L-01598 . . . . . . . . . 8.20 D T B B D D N T N 0.238 T T T 0.032 0.698 0.355 0.212 D T T T D D 3.037 23.500 0.987 D D -0.149 2.025 0.047 2.525 0.051 0.693 0.574 0.659 0.564 . 5.550 4.710 4.764 1.176 0.671 1.000 0.997 0.992 935 Ionotropic_glutamate_receptor,_L-glutamate_and_glycine-binding_domain;Ionotropic_glutamate_receptor . . . GRID2 286 0 409 35 0.0788288288288288 TRUE TRUE ENSG00000168594.15 . BCM GRCh38.p13 chr4 174977077 174977077 + G G A Missense_Mutation SNP ENST00000359240.7 exon5 c.G1552A p.E518K exonic ENSG00000168594.15 . nonsynonymous SNV ENSG00000168594.15:ENST00000359240.7:exon5:c.G1552A:p.E518K 4q34.1 C3L-01598 . . . . . . . . . 0.20 T T B B U N L T N 0.090 T T T 0.027 0.585 0.300 0.089 T T T T T T -0.451 0.150 0.712 N N -1.884 0.016 -2.002 0.013 0.082 0.487 0.574 0.574 0.564 . 3.480 -6.970 -2.789 -0.968 -0.955 0.000 0.000 0.000 960 ADAM,_cysteine-rich . . ID=COSV63665303;OCCURENCE=1(breast) ADAM29 203 2 245 17 0.0648854961832061 NA TRUE ENSG00000170549.4 . BCM GRCh38.p13 chr5 3601006 3601006 + C C T Missense_Mutation SNP ENST00000302006.4 exon4 c.C1409T p.T470M exonic ENSG00000170549.4 . nonsynonymous SNV ENSG00000170549.4:ENST00000302006.4:exon4:c.C1409T:p.T470M 5p15.33 C3L-01598 . . . . . . . . . 9.20 D D D P U D L T N 0.486 T T D 0.180 0.124 0.920 . T T D T D T 4.242 29.000 0.999 D D 0.661 6.609 0.638 6.737 1.000 0.726 0.547 0.594 0.639 . 4.770 4.770 6.184 1.026 0.599 1.000 0.990 0.997 982 . . . ID=COSV57358201;OCCURENCE=2(large_intestine),1(upper_aerodigestive_tract) IRX1 343 1 634 50 0.0730994152046784 TRUE TRUE ENSG00000082516.9 . BCM GRCh38.p13 chr5 154931536 154931536 + G G A Missense_Mutation SNP ENST00000285873.8 exon5 c.C703T p.P235S exonic ENSG00000082516.9 . nonsynonymous SNV ENSG00000082516.9:ENST00000285873.8:exon5:c.C703T:p.P235S 5q33.2 C3L-01598 . . . . . . . . . 1.20 T T B B N N N T N 0.232 T T D 0.067 0.479 0.635 0.075 T T T T T T 0.363 5.011 0.498 N N -0.739 0.749 -0.719 0.873 1.000 0.707 0.654 0.725 0.714 . 5.250 2.220 0.083 0.199 -0.153 0.289 0.360 0.303 875 WD40-repeat-containing_domain . . . GEMIN5 141 0 207 21 0.0921052631578947 TRUE TRUE ENSG00000134516.18 . BCM GRCh38.p13 chr5 170041074 170041074 + G G A Missense_Mutation SNP ENST00000520908.7 exon37 c.G3685A p.D1229N exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon37:c.G3685A:p.D1229N 5q35.1 C3L-01598 . . . . . . . . . 12.20 D D D P D D L T D 0.771 T T D 0.347 0.326 0.859 1.391 D T T T D D 4.279 29.400 0.999 D D 0.693 7.018 0.678 7.353 1.000 0.707 0.725 0.567 0.616 . 5.320 5.320 9.962 1.172 0.672 1.000 0.543 0.345 964 DHR-2_domain;Dedicator_of_cytokinesis,_C-terminal . . ID=COSV56959162;OCCURENCE=2(skin),1(endometrium) DOCK2 289 0 527 34 0.0606060606060606 TRUE TRUE ENSG00000079691.18 . BCM GRCh38.p13 chr6 25600555 25600555 + G G A Missense_Mutation SNP ENST00000329474.7 exon33 c.G3361A p.E1121K exonic ENSG00000079691.18 . nonsynonymous SNV ENSG00000079691.18:ENST00000329474.7:exon33:c.G3361A:p.E1121K 6p22.2 C3L-01598 . . . . . . . . . 6.19 D T B B N D . T N 0.169 T T T 0.092 0.268 0.068 0.385 T T T T D D 3.303 24.100 0.998 D D -0.090 2.205 -0.046 2.208 1.000 0.706 0.588 0.710 0.564 . 4.690 3.810 8.725 1.176 0.676 1.000 0.510 0.982 617 . . . . CARMIL1 380 1 531 45 0.078125 TRUE TRUE ENSG00000204248.11 . BCM GRCh38.p13 chr6 33169880 33169880 + - NA C Frame_Shift_Ins NA ENST00000374708.8 exon48 c.3382dupG p.E1128Gfs*41 exonic ENSG00000204248.11 . frameshift insertion ENSG00000204248.11:ENST00000374708.8:exon48:c.3382dupG:p.E1128Gfs*41 6p21.32 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL11A2 NA NA NA NA NA NA NA ENSG00000111880.16 . BCM GRCh38.p13 chr6 88844398 88844398 + C C T Missense_Mutation SNP ENST00000369485.9 exon11 c.G1228A p.V410I exonic ENSG00000111880.16 . nonsynonymous SNV ENSG00000111880.16:ENST00000369485.9:exon11:c.G1228A:p.V410I 6q15 C3L-01598 1.648e-05 9.625e-05 0 0 0 1.499e-05 0 0 rs772588621 7.20 T T B B D D L D N 0.333 T T D 0.405 0.571 0.595 0.571 T T T T T D 2.165 20.600 0.997 D D 0.050 2.695 0.251 3.441 1.000 0.707 0.725 0.659 0.564 . 5.700 5.700 6.009 1.026 0.599 1.000 1.000 0.996 797 mRNA_capping_enzyme,_catalytic_domain . . . RNGTT 256 0 374 31 0.0765432098765432 TRUE NA ENSG00000154269.15 . BCM GRCh38.p13 chr6 131693509 131693509 + G G A Missense_Mutation SNP ENST00000357639.8 exon15 c.G1297A p.D433N exonic ENSG00000154269.15 . nonsynonymous SNV ENSG00000154269.15:ENST00000357639.8:exon15:c.G1297A:p.D433N 6q23.2 C3L-01598 . . . . . . . . . 0.20 T T B B N N N T N 0.190 T T T 0.106 0.601 0.465 0.062 T T T T T T 1.248 14.000 0.844 N N -0.937 0.476 -0.837 0.707 0.059 0.487 0.590 0.492 0.564 . 5.920 3.190 1.396 1.176 0.676 0.065 0.224 0.543 872 . . . . ENPP3 184 0 233 19 0.0753968253968254 TRUE NA ENSG00000078053.17 . BCM GRCh38.p13 chr7 38426954 38426954 + C C A Missense_Mutation SNP ENST00000356264.7 exon15 c.G1215T p.Q405H exonic ENSG00000078053.17 . nonsynonymous SNV ENSG00000078053.17:ENST00000356264.7:exon15:c.G1215T:p.Q405H 7p14.1 C3L-01598 . . . . . . . . . 9.20 D T D D N D L T N 0.456 T T D 0.204 0.124 0.885 0.649 T T D T D T 6.606 36 0.997 D D 0.671 6.731 0.664 7.130 1.000 0.706 0.575 0.710 0.613 . 5.380 5.380 5.480 1.026 0.599 1.000 0.996 0.955 784 . . . . AMPH 205 0 366 30 0.0757575757575758 TRUE TRUE ENSG00000172209.6 . BCM GRCh38.p13 chr7 107474893 107474893 + G G A Missense_Mutation SNP ENST00000304402.6 exon3 c.G833A p.R278K exonic ENSG00000172209.6 . nonsynonymous SNV ENSG00000172209.6:ENST00000304402.6:exon3:c.G833A:p.R278K 7q22.3 C3L-01598 . . . . . . . . . 3.19 T T B B D D L T N 0.096 T T T 0.054 0.396 0.296 0.601 T T T T T . 1.880 18.330 0.908 D N -0.027 2.418 0.169 3.038 1.000 0.554 0.574 0.547 0.568 . 5.560 5.560 4.210 1.176 0.618 1.000 1.000 0.999 829 GPCR,_rhodopsin-like,_7TM . . . GPR22 301 0 431 30 0.0650759219088937 TRUE TRUE ENSG00000128591.15 . BCM GRCh38.p13 chr7 128841257 128841257 + A A C Missense_Mutation SNP ENST00000325888.12 exon12 c.A1901C p.E634A exonic ENSG00000128591.15 . nonsynonymous SNV ENSG00000128591.15:ENST00000325888.12:exon12:c.A1901C:p.E634A 7q32.1 C3L-01598 . . . . . . . . . 16.20 T T P P D D M D D 0.830 D D D 0.816 0.522 0.925 0.774 D D D D D D 4.051 27.400 0.991 D D 0.413 4.424 0.470 4.899 1.000 0.707 0.187 0.723 0.714 . 5.200 5.200 9.239 1.312 0.691 1.000 0.976 0.890 621 . . . . FLNC 282 1 496 45 0.0831792975970425 TRUE TRUE ENSG00000257743.8 . BCM GRCh38.p13 chr7 142171328 142171328 + C C T Missense_Mutation SNP ENST00000477922.3 exon28 c.C3239T p.T1080M exonic ENSG00000257743.8 . nonsynonymous SNV ENSG00000257743.8:ENST00000477922.3:exon28:c.C3239T:p.T1080M 7q34 C3L-01598 0.0003 0 0 0 0 0.0009 0 0.0001 rs778452821 6.11 . D . . D . . . . 0.466 T T D 0.318 . 0.165 . . D T T T . 3.079 23.600 0.998 D D 0.156 3.116 0.128 2.850 0.869 0.500 0.574 0.574 0.504 . 4.930 4.930 6.014 1.022 0.596 1.000 0.548 0.172 934 Galactose_mutarotase,_N-terminal_barrel . . . MGAM2 531 0 771 56 0.0677146311970979 TRUE NA ENSG00000165125.21 . BCM GRCh38.p13 chr7 142875623 142875623 + G G A Missense_Mutation SNP ENST00000359396.8 exon8 c.C1087T p.R363W exonic ENSG00000165125.21 . nonsynonymous SNV ENSG00000165125.21:ENST00000359396.8:exon8:c.C1087T:p.R363W 7q34 C3L-01598 1.651e-05 0.0002 0 0 0 0 0 0 rs375745559 8.17 T D . . D N . D N 0.437 T T D 0.157 . 0.646 0.806 T D T T D D 2.174 20.700 0.995 N D -0.578 1.028 -0.806 0.750 0.342 0.497 0.547 0.547 0.542 . 4.710 -2.560 1.602 -0.176 -0.877 0.036 0.930 0.154 705 . . . ID=COSV63894082;OCCURENCE=1(large_intestine) TRPV6 136 0 274 25 0.0836120401337793 TRUE TRUE ENSG00000130226.17 . BCM GRCh38.p13 chr7 154892446 154892446 + C C G Missense_Mutation SNP ENST00000377770.8 exon26 c.C2564G p.T855R exonic ENSG00000130226.17 . nonsynonymous SNV ENSG00000130226.17:ENST00000377770.8:exon26:c.C2564G:p.T855R 7q36.2 C3L-01598 . . . . . . . . . 1.19 D T B B N N L T N 0.173 T T T 0.075 0.493 0.068 0.501 T T T T T . 0.743 8.851 0.837 N N -0.693 0.824 -0.704 0.894 0.242 0.646 0.574 0.645 0.613 . 4.660 3.780 2.224 0.122 0.596 0.061 0.001 0.023 958 . . . . DPP6 185 0 337 29 0.0792349726775956 TRUE TRUE ENSG00000170961.7 . BCM GRCh38.p13 chr8 121614402 121614402 + C C T Missense_Mutation SNP ENST00000303924.5 exon4 c.G1366A p.A456T exonic ENSG00000170961.7 . nonsynonymous SNV ENSG00000170961.7:ENST00000303924.5:exon4:c.G1366A:p.A456T 8q24.13 C3L-01598 . . . . . . . . . 7.20 T T P P D D L T N 0.441 T T T 0.220 0.546 0.068 1.547 D T T T D D 3.481 24.600 0.998 D D 0.524 5.228 0.620 6.483 1.000 0.554 0.574 0.602 0.564 . 6.170 6.170 5.048 1.026 0.594 1.000 0.961 0.997 864 . . . . HAS2 228 2 356 28 0.0729166666666667 NA TRUE ENSG00000160949.17 . BCM GRCh38.p13 chr8 144444410 144444410 + C C A Missense_Mutation SNP ENST00000409379.8 exon1 c.G5T p.S2I exonic ENSG00000160949.17 . nonsynonymous SNV ENSG00000160949.17:ENST00000409379.8:exon1:c.G5T:p.S2I 8q24.3 C3L-01598 . . . . . . . . rs1052374304 2.18 T D B B . N L T N 0.080 T T D 0.031 . 0.092 0.164 T T T T T . 0.737 8.789 0.898 N N -1.442 0.101 -1.553 0.089 1.000 0.468 0.484 0.504 0.373 . 4.910 -6.910 -2.318 -0.981 -1.395 0.000 0.003 0.005 940 . . . . TONSL 16 0 51 6 0.105263157894737 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971158 21971177 + GCCGTGGAGCAGCAGCAGCT GCCGTGGAGCAGCAGCAGCT - Frame_Shift_Del DEL ENST00000304494.9 exon2 c.182_201del p.E61Gfs*52 exonic ENSG00000147889.17 . frameshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.182_201del:p.E61Gfs*52 9p21.3 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 457 0 901 77 0.0787321063394683 NA TRUE ENSG00000120054.12 . BCM GRCh38.p13 chr10 100042476 100042476 + G G A Missense_Mutation SNP ENST00000370418.8 exon9 c.C1328T p.A443V exonic ENSG00000120054.12 . nonsynonymous SNV ENSG00000120054.12:ENST00000370418.8:exon9:c.C1328T:p.A443V 10q24.2 C3L-01598 8.238e-06 0 0 0 0 0 0 6.057e-05 rs758222936 0.20 T T B B N N N T N 0.077 T T T 0.029 0.186 0.268 0.397 T T T T T T 0.452 6.000 0.924 N N -0.940 0.472 -0.912 0.603 0.994 0.554 0.492 0.602 0.613 . 4.580 2.720 0.111 1.176 0.674 0.000 0.018 0.016 831 . . . . CPN1 595 0 1082 92 0.0783645655877342 TRUE NA ENSG00000129159.8 . BCM GRCh38.p13 chr11 17736018 17736018 + G G A Missense_Mutation SNP ENST00000379472.4 exon1 c.G16A p.E6K exonic ENSG00000129159.8 . nonsynonymous SNV ENSG00000129159.8:ENST00000379472.4:exon1:c.G16A:p.E6K 11p15.1 C3L-01598 . . . . . . . . . 12.20 T T D B N D L D N 0.240 D D D 0.434 0.410 0.890 2.298 T T D D D D 2.936 23.300 0.995 D D 0.076 2.793 0.169 3.037 1.000 0.598 0.616 0.378 0.639 . 4.230 4.230 6.814 1.176 0.618 1.000 1.000 0.999 789 . . . . KCNC1 54 1 87 8 0.0842105263157895 TRUE TRUE ENSG00000124942.14 . BCM GRCh38.p13 chr11 62520796 62520796 + C C T Missense_Mutation SNP ENST00000378024.9 exon5 c.G13621A p.V4541I exonic ENSG00000124942.14 . nonsynonymous SNV ENSG00000124942.14:ENST00000378024.9:exon5:c.G13621A:p.V4541I 11q12.3 C3L-01598 0.0001 0.0003 0 0.0013 0 0 0 6.058e-05 rs202195084 0.19 T T B B N N N T N 0.025 T T T 0.068 . 0.107 0.024 T T T T T T -2.900 0.001 0.471 N . -1.746 0.030 -1.916 0.020 1.000 0.732 0.744 0.659 0.711 . 4.920 -9.840 -3.238 -3.750 -3.118 0.000 0.000 0.000 219 . . . ID=COSV57210711;OCCURENCE=1(oesophagus),1(stomach) AHNAK 266 2 361 38 0.0952380952380952 NA TRUE ENSG00000234560.4 . BCM GRCh38.p13 chr11 124030164 124030164 + C C T Missense_Mutation SNP ENST00000431524.1 exon1 c.C542T p.P181L exonic ENSG00000234560.4 . nonsynonymous SNV ENSG00000234560.4:ENST00000431524.1:exon1:c.C542T:p.P181L 11q24.2 C3L-01598 8.237e-06 0 0 0 0 1.498e-05 0 0 rs776182491 5.20 T T D D D N L T D 0.123 T T T 0.079 0.474 0.369 0.286 T T T T D T 2.202 20.900 0.996 N N -0.092 2.201 -0.297 1.570 0.001 0.487 0.590 0.547 0.564 . 3.040 3.040 0.334 0.937 0.573 0.000 0.016 0.004 773 GPCR,_rhodopsin-like,_7TM . . ID=COSV70909383;OCCURENCE=1(stomach) OR10G8 312 1 697 60 0.0792602377807133 NA TRUE ENSG00000166105.16 . BCM GRCh38.p13 chr11 134314425 134314425 + C C A Missense_Mutation SNP ENST00000431683.7 exon18 c.C1763A p.T588N exonic ENSG00000166105.16 . nonsynonymous SNV ENSG00000166105.16:ENST00000431683.7:exon18:c.C1763A:p.T588N 11q25 C3L-01598 . . . . . . . . . 17.20 D D D D D D H D D 0.717 D D D 0.860 0.583 0.677 0.279 T T D D D T 3.647 25.200 0.992 D D 0.888 10.740 0.774 9.399 1.000 0.744 0.627 0.630 0.564 . 4.640 4.640 5.037 1.008 0.599 1.000 0.988 0.983 952 . . . . GLB1L3 404 0 907 63 0.0649484536082474 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01598 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 356 0 569 106 0.157037037037037 TRUE TRUE ENSG00000139626.16 . BCM GRCh38.p13 chr12 53192752 53192752 + C C T Missense_Mutation SNP ENST00000267082.10 exon13 c.G1885A p.G629S exonic ENSG00000139626.16 . nonsynonymous SNV ENSG00000139626.16:ENST00000267082.10:exon13:c.G1885A:p.G629S 12q13.13 C3L-01598 0.0082 0.0013 0.0266 0 0.0189 0.0026 0.0055 0.0224 rs61754162 12.19 T T D D D D M D D 0.375 D D . 0.668 . 0.937 0.980 T D T D T T 2.632 22.700 0.998 D N 0.421 4.475 0.330 3.896 1.000 0.672 0.702 0.514 0.646 . 5.130 5.130 2.442 1.023 0.595 0.992 0.133 0.044 735 EGF-like_domain,_extracellular . . ID=COSV57239218;OCCURENCE=1(lung) ITGB7 264 0 555 49 0.0811258278145695 TRUE TRUE ENSG00000139767.10 . BCM GRCh38.p13 chr12 119130782 119130782 + G G A Missense_Mutation SNP ENST00000267260.5 exon8 c.G719A p.R240H exonic ENSG00000139767.10 . nonsynonymous SNV ENSG00000139767.10:ENST00000267260.5:exon8:c.G719A:p.R240H 12q24.23 C3L-01598 1.746e-05 0 0 0.0001 0 1.573e-05 0 0 rs780069693 0.20 T T B B N N N T N 0.049 T T T 0.029 0.245 0.014 0.190 T T T T T T -0.517 0.109 0.619 N N -1.716 0.034 -1.726 0.046 0.089 0.554 0.574 0.602 0.564 . 5.070 -6.470 0.052 -1.093 -0.815 0.012 0.002 0.009 950 . . . ID=COSV57410239;OCCURENCE=1(large_intestine) SRRM4 200 0 358 24 0.06282722513089 TRUE TRUE ENSG00000185344.14 . BCM GRCh38.p13 chr12 123726262 123726262 + G G A Missense_Mutation SNP ENST00000330342.8 exon5 c.G498A p.M166I exonic ENSG00000185344.14 . nonsynonymous SNV ENSG00000185344.14:ENST00000330342.8:exon5:c.G498A:p.M166I 12q24.31 C3L-01598 . . . . . . . . . 11.20 T T P B D D L D N 0.614 D D D 0.557 0.638 0.586 0.411 T T D D D T 2.817 23.100 0.995 D D 0.474 4.842 0.604 6.268 1.000 0.722 0.699 0.725 0.714 . 5.920 5.920 9.567 1.162 0.675 1.000 1.000 0.998 345 . . . . ATP6V0A2 309 0 483 31 0.0603112840466926 TRUE TRUE ENSG00000139517.9 . BCM GRCh38.p13 chr13 27562604 27562604 + G G A Missense_Mutation SNP ENST00000316334.5 exon5 c.C1033T p.R345W exonic ENSG00000139517.9 . nonsynonymous SNV ENSG00000139517.9:ENST00000316334.5:exon5:c.C1033T:p.R345W 13q12.2 C3L-01598 1.648e-05 9.61e-05 0 0 0 0 0 6.056e-05 rs745613572 14.20 D D D D D D M T D 0.738 T T D 0.329 0.579 0.786 0.272 T T T D D D 4.012 27.100 0.999 D D 0.657 6.562 0.585 6.037 0.999 0.653 0.546 0.659 0.669 . 5.880 5.020 3.459 1.176 0.676 1.000 0.778 0.947 970 PDZ_domain . . ID=COSV60338718;OCCURENCE=1(stomach),1(endometrium) LNX2 355 0 616 75 0.108538350217077 TRUE TRUE ENSG00000174373.16 . BCM GRCh38.p13 chr14 35738515 35738515 + G G A Nonsense_Mutation SNP ENST00000389698.7 exon12 c.C1585T p.Q529X exonic ENSG00000174373.16 . stopgain ENSG00000174373.16:ENST00000389698.7:exon12:c.C1585T:p.Q529X 14q13.2 C3L-01598 . . . . . . . . . 6.6 . . . . D A . . . 0.522 . . . . . . . . . D D . . 10.158 54 0.998 D D 1.153 20.217 1.006 19.199 0.999 0.554 0.588 0.547 0.528 . 5.420 5.420 6.842 1.176 0.618 1.000 0.933 0.964 555 . . . . RALGAPA1 209 2 298 16 0.0509554140127389 NA TRUE ENSG00000151332.19 . BCM GRCh38.p13 chr14 36314532 36314532 + T T C Missense_Mutation SNP ENST00000416007.9 exon4 c.A551G p.N184S exonic ENSG00000151332.19 . nonsynonymous SNV ENSG00000151332.19:ENST00000416007.9:exon4:c.A551G:p.N184S 14q13.3 C3L-01598 0.0004 0 0 0 0 0.0007 0 0 rs149685675 8.20 T T D D D D M T N 0.914 T T T 0.091 . 0.609 0.107 T T T T T D 2.389 22.000 0.987 D D 0.466 4.782 0.574 5.908 1.000 0.732 0.710 0.710 0.728 . 6.080 6.080 7.441 1.138 0.665 1.000 1.000 1.000 331 . . . ID=COSV100576837;OCCURENCE=1(central_nervous_system) MBIP 113 0 171 12 0.0655737704918033 TRUE NA ENSG00000119638.13 . BCM GRCh38.p13 chr14 75106525 75106525 + T T C Missense_Mutation SNP ENST00000238616.10 exon12 c.A1505G p.Y502C exonic ENSG00000119638.13 . nonsynonymous SNV ENSG00000119638.13:ENST00000238616.10:exon12:c.A1505G:p.Y502C 14q24.3 C3L-01598 8.24e-06 0 0 0 0 1.499e-05 0 0 rs534245464 19.20 D D D D D D M D D 0.934 D D D 0.926 0.879 0.957 1.357 T D D D D D 4.122 27.900 0.998 D D 0.732 7.585 0.683 7.439 1.000 0.707 0.725 0.725 0.714 . 4.990 4.990 6.040 1.127 0.651 1.000 1.000 1.000 342 . . . . NEK9 413 0 734 55 0.0697084917617237 TRUE NA ENSG00000156218.13 . BCM GRCh38.p13 chr15 83991200 83991200 + G G T Missense_Mutation SNP ENST00000286744.10 exon23 c.G3959T p.R1320L exonic ENSG00000156218.13 . nonsynonymous SNV ENSG00000156218.13:ENST00000286744.10:exon23:c.G3959T:p.R1320L 15q25.2 C3L-01598 . . . . . . . . . 1.20 T T B B N N L T N 0.476 T T D 0.230 0.710 0.555 0.217 T T T T T T 1.079 12.560 0.968 N N -1.067 0.337 -1.162 0.316 1.000 0.601 0.597 0.618 0.564 . 5.210 -4.800 -0.182 -0.518 -0.642 0.003 0.774 0.884 623 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . ADAMTSL3 185 1 340 28 0.0760869565217391 TRUE TRUE ENSG00000154227.13 . BCM GRCh38.p13 chr15 100469382 100469382 + A A G Missense_Mutation SNP ENST00000284382.8 exon11 c.T841C p.F281L exonic ENSG00000154227.13 . nonsynonymous SNV ENSG00000154227.13:ENST00000284382.8:exon11:c.T841C:p.F281L 15q26.3 C3L-01598 8.243e-06 0 0 0 0 0 0 6.058e-05 rs769131621 16.20 T T D D N D M D D 0.581 D D D 0.818 0.677 0.689 0.135 T D D D D D 3.988 26.900 0.999 D D 0.655 6.538 0.656 7.002 0.998 0.487 0.574 0.574 0.564 . 5.680 5.680 5.478 1.312 0.756 1.000 1.000 0.990 970 TRAM/LAG1/CLN8_homology_domain . . . CERS3 173 0 256 23 0.0824372759856631 TRUE NA ENSG00000103222.19 . BCM GRCh38.p13 chr16 16090516 16090516 + C C G Missense_Mutation SNP ENST00000399410.8 exon19 c.C2572G p.R858G exonic ENSG00000103222.19 . nonsynonymous SNV ENSG00000103222.19:ENST00000399410.8:exon19:c.C2572G:p.R858G 16p13.11 C3L-01598 . . . . . . . . . 5.20 D T B B N N L D D 0.473 T T D 0.177 0.496 0.840 0.431 T T T T T D 2.151 20.500 0.989 N N -0.235 1.780 -0.161 1.882 0.998 0.707 0.702 0.702 0.714 . 5.400 5.400 1.178 1.025 0.598 0.001 0.980 0.891 912 ABC_transporter-like;AAA+_ATPase_domain . . . ABCC1 156 0 320 23 0.0670553935860058 TRUE NA ENSG00000159708.18 . BCM GRCh38.p13 chr16 67375283 67375283 + G G A Missense_Mutation SNP ENST00000329956.11 exon10 c.G1531A p.A511T exonic ENSG00000159708.18 . nonsynonymous SNV ENSG00000159708.18:ENST00000329956.11:exon10:c.G1531A:p.A511T 16q22.1 C3L-01598 . . . . . . . . . 2.19 D T B B N D N T N 0.070 T T . 0.039 0.222 0.262 0.211 T T T T T T 1.947 18.850 0.989 N N -0.403 1.376 -0.282 1.601 0.995 0.516 0.547 0.547 0.586 . 5.690 2.670 0.641 -0.241 -0.250 1.000 0.991 0.995 22 . . . . LRRC36 275 0 643 41 0.0599415204678363 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675136 7675136 + G G T Missense_Mutation SNP ENST00000269305.8 exon5 c.C476A p.A159D exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C476A:p.A159D 17p13.1 C3L-01598 . . . . . . . . . 19.20 D D D D D D M D D 0.857 D D D 0.836 0.920 0.976 2.017 T D D D D D 3.578 25.000 0.990 D D 0.322 3.896 0.157 2.980 0.990 0.722 0.698 0.698 0.735 . 5.590 2.420 8.150 1.176 0.676 1.000 0.917 0.632 434 p53,_DNA-binding_domain . . ID=COSV52759722;OCCURENCE=1(oesophagus),6(large_intestine),2(central_nervous_system),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(urinary_tract),1(prostate),1(lung) TP53 357 2 522 62 0.106164383561644 TRUE TRUE ENSG00000240871.5 . BCM GRCh38.p13 chr17 41084327 41084327 + C C T Missense_Mutation SNP ENST00000391417.5 exon1 c.C121T p.R41C exonic ENSG00000240871.5 . nonsynonymous SNV ENSG00000240871.5:ENST00000391417.5:exon1:c.C121T:p.R41C 17q21.2 C3L-01598 . . . . . . . . . 3.16 D T . . U N . T D 0.287 T T T 0.043 0.403 0.357 0.042 T . T T D T 2.533 22.500 0.945 N N -0.381 1.425 -0.616 1.022 0.001 0.487 0.563 0.574 0.564 . 3.630 1.370 -0.370 0.126 0.507 0.013 0.037 0.033 408 . . . ID=COSV66951250;OCCURENCE=1(stomach),1(urinary_tract) KRTAP4-7 432 0 906 75 0.0764525993883792 NA TRUE ENSG00000166685.12 . BCM GRCh38.p13 chr17 73193376 73193376 + G G A Missense_Mutation SNP ENST00000299886.9 exon1 c.G307A p.A103T exonic ENSG00000166685.12 . nonsynonymous SNV ENSG00000166685.12:ENST00000299886.9:exon1:c.G307A:p.A103T 17q25.1 C3L-01598 . . . . . . . . . 0.20 T T B B N N L T N 0.064 T T T 0.037 0.182 0.231 0.687 T T T T T T 0.825 9.643 0.927 N N -0.932 0.482 -0.926 0.585 1.000 0.442 0.522 0.474 0.373 . 3.430 1.170 -0.006 0.153 -0.331 0.005 0.099 0.010 580 . . . . COG1 100 0 186 14 0.07 TRUE NA ENSG00000078898.7 . BCM GRCh38.p13 chr20 33021782 33021783 + GA GA - Frame_Shift_Del DEL ENST00000170150.4 exon15 c.1318_1319del p.E440Dfs*5 exonic ENSG00000078898.7 . frameshift deletion ENSG00000078898.7:ENST00000170150.4:exon15:c.1318_1319del:p.E440Dfs*5 20q11.21 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BPIFB2 274 1 512 30 0.0553505535055351 NA TRUE ENSG00000124143.10 . BCM GRCh38.p13 chr20 38623504 38623504 + A A G Missense_Mutation SNP ENST00000373345.8 exon2 c.A124G p.R42G exonic ENSG00000124143.10 . nonsynonymous SNV ENSG00000124143.10:ENST00000373345.8:exon2:c.A124G:p.R42G 20q11.23 C3L-01598 . . . . . . . . . 0.17 T T . . . N L T N 0.140 T T T 0.015 0.218 0.284 . T T T T T T 0.736 8.786 0.733 N N -0.806 0.646 -0.932 0.578 0.314 0.516 0.590 0.602 0.586 . 4.170 -3.850 0.787 -0.120 -0.092 0.409 0.731 0.935 897 . . . . ARHGAP40 173 0 293 34 0.103975535168196 TRUE TRUE ENSG00000162669.16 . BCM GRCh38.p13 chr1 91315949 91315949 + C C T Silent SNP ENST00000370425.8 exon28 c.G3006A p.T1002T exonic ENSG00000162669.16 . synonymous SNV ENSG00000162669.16:ENST00000370425.8:exon28:c.G3006A:p.T1002T 1p22.2 C3L-01598 . . . . . . . . rs773788286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54023987;OCCURENCE=1(large_intestine) HFM1 89 0 176 15 0.0785340314136126 TRUE TRUE ENSG00000143341.12 . BCM GRCh38.p13 chr1 186189863 186189863 + C C T Silent SNP ENST00000271588.9 exon107 c.C16893T p.S5631S exonic ENSG00000143341.12 . synonymous SNV ENSG00000143341.12:ENST00000271588.9:exon107:c.C16893T:p.S5631S 1q31.1 C3L-01598 2.474e-05 0 0.0002 0 0 1.5e-05 0 0 rs200759463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMCN1 318 0 413 35 0.078125 TRUE NA ENSG00000130508.11 . BCM GRCh38.p13 chr2 1648993 1648993 + C C A Silent SNP ENST00000252804.9 exon17 c.G2787T p.L929L exonic ENSG00000130508.11 . synonymous SNV ENSG00000130508.11:ENST00000252804.9:exon17:c.G2787T:p.L929L 2p25.3 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PXDN 163 0 246 22 0.082089552238806 TRUE TRUE ENSG00000163295.5 . BCM GRCh38.p13 chr2 232458924 232458924 + C C T Silent SNP ENST00000295463.4 exon11 c.C1365T p.D455D exonic ENSG00000163295.5 . synonymous SNV ENSG00000163295.5:ENST00000295463.4:exon11:c.C1365T:p.D455D 2q37.1 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55015571;OCCURENCE=1(large_intestine) ALPI 259 0 529 106 0.166929133858268 TRUE TRUE ENSG00000156983.16 . BCM GRCh38.p13 chr3 9739302 9739302 + C C T Silent SNP ENST00000457855.1 exon2 c.C903T p.H301H exonic ENSG00000156983.16 . synonymous SNV ENSG00000156983.16:ENST00000457855.1:exon2:c.C903T:p.H301H 3p25.3 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57403061;OCCURENCE=1(skin) BRPF1 108 0 213 14 0.0616740088105727 TRUE TRUE ENSG00000187689.10 . BCM GRCh38.p13 chr4 70522817 70522817 + A A G Silent SNP ENST00000339336.9 exon3 c.A117G p.P39P exonic ENSG00000187689.10 . synonymous SNV ENSG00000187689.10:ENST00000339336.9:exon3:c.A117G:p.P39P 4q13.3 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMTN 291 2 514 31 0.0568807339449541 NA TRUE ENSG00000113430.10 . BCM GRCh38.p13 chr5 1878287 1878287 + C C T Silent SNP ENST00000231357.7 exon5 c.G1242A p.P414P exonic ENSG00000113430.10 . synonymous SNV ENSG00000113430.10:ENST00000231357.7:exon5:c.G1242A:p.P414P 5p15.33 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51473850;OCCURENCE=1(breast),1(large_intestine) IRX4 139 0 268 19 0.0662020905923345 TRUE TRUE ENSG00000244694.7 . BCM GRCh38.p13 chr6 47878921 47878921 + G G A Silent SNP ENST00000339488.8 exon3 c.C1923T p.I641I exonic ENSG00000244694.7 . synonymous SNV ENSG00000244694.7:ENST00000339488.8:exon3:c.C1923T:p.I641I 6p12.3 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59778738;OCCURENCE=1(large_intestine),2(skin) PTCHD4 395 0 590 53 0.0824261275272162 TRUE TRUE ENSG00000156395.13 . BCM GRCh38.p13 chr10 104641642 104641642 + C C T Silent SNP ENST00000369701.8 exon1 c.C315T p.A105A exonic ENSG00000156395.13 . synonymous SNV ENSG00000156395.13:ENST00000369701.8:exon1:c.C315T:p.A105A 10q25.1 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SORCS3 148 0 344 26 0.0702702702702703 TRUE TRUE ENSG00000124942.14 . BCM GRCh38.p13 chr11 62518175 62518175 + A A G Silent SNP ENST00000378024.9 exon5 c.T16242C p.S5414S exonic ENSG00000124942.14 . synonymous SNV ENSG00000124942.14:ENST00000378024.9:exon5:c.T16242C:p.S5414S 11q12.3 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHNAK 238 0 439 34 0.0718816067653277 TRUE TRUE ENSG00000135424.18 . BCM GRCh38.p13 chr12 55702929 55702929 + C C T Silent SNP ENST00000555728.5 exon3 c.G357A p.K119K exonic ENSG00000135424.18 . synonymous SNV ENSG00000135424.18:ENST00000555728.5:exon3:c.G357A:p.K119K 12q13.2 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA7 617 0 1046 81 0.0718722271517303 TRUE TRUE ENSG00000198855.7 . BCM GRCh38.p13 chr12 108518938 108518938 + G G A Silent SNP ENST00000552695.6 exon3 c.G840A p.S280S exonic ENSG00000198855.7 . synonymous SNV ENSG00000198855.7:ENST00000552695.6:exon3:c.G840A:p.S280S 12q23.3 C3L-01598 3.302e-05 0 0 0 0 4.506e-05 0 6.058e-05 rs375100196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FICD 327 0 559 54 0.0880913539967374 TRUE NA ENSG00000078328.21 . BCM GRCh38.p13 chr16 7518266 7518266 + G G A Silent SNP ENST00000550418.6 exon5 c.G147A p.A49A exonic ENSG00000078328.21 . synonymous SNV ENSG00000078328.21:ENST00000550418.6:exon5:c.G147A:p.A49A 16p13.3 C3L-01598 8.239e-06 0 0 0 0 0 0 6.056e-05 rs752770034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60957261;OCCURENCE=1(oesophagus),2(large_intestine) RBFOX1 222 0 335 21 0.0589887640449438 TRUE TRUE ENSG00000076351.13 . BCM GRCh38.p13 chr17 28405319 28405319 + G G A Silent SNP ENST00000612814.5 exon2 c.C378T p.L126L exonic ENSG00000076351.13 . synonymous SNV ENSG00000076351.13:ENST00000612814.5:exon2:c.C378T:p.L126L 17q11.2 C3L-01598 2.365e-05 0 0 0 0 4.232e-05 0 0 rs375678730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC46A1 203 0 842 93 0.0994652406417112 TRUE NA ENSG00000278540.5 . BCM GRCh38.p13 chr17 37192114 37192114 + G G A Silent SNP ENST00000614428.4 exon37 c.C4281T p.I1427I exonic ENSG00000278540.5 . synonymous SNV ENSG00000278540.5:ENST00000614428.4:exon37:c.C4281T:p.I1427I 17q12 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACACA 423 0 646 47 0.0678210678210678 TRUE TRUE ENSG00000161270.19 . BCM GRCh38.p13 chr19 35831347 35831347 + G G A Silent SNP ENST00000378910.9 exon26 c.C3336T p.N1112N exonic ENSG00000161270.19 . synonymous SNV ENSG00000161270.19:ENST00000378910.9:exon26:c.C3336T:p.N1112N 19q13.12 C3L-01598 . . . . . . . . rs1053234526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62289633;OCCURENCE=1(ovary) NPHS1 517 1 932 69 0.0689310689310689 TRUE TRUE ENSG00000169297.8 . BCM GRCh38.p13 chrX 30309076 30309076 + C C T Silent SNP ENST00000378970.5 exon1 c.G288A p.A96A exonic ENSG00000169297.8 . synonymous SNV ENSG00000169297.8:ENST00000378970.5:exon1:c.G288A:p.A96A Xp21.2 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66764071;OCCURENCE=1(breast),2(large_intestine) NR0B1 370 0 706 62 0.0807291666666667 TRUE TRUE ENSG00000046774.10 . BCM GRCh38.p13 chrX 142202890 142202890 + G G A Silent SNP ENST00000247452.4 exon3 c.C1098T p.S366S exonic ENSG00000046774.10 . synonymous SNV ENSG00000046774.10:ENST00000247452.4:exon3:c.C1098T:p.S366S Xq27.2 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEC2 136 0 211 22 0.0944206008583691 TRUE TRUE ENSG00000144228.9 . BCM GRCh38.p13 chr2 138554456 138554456 + G G T Intron SNP NA NA NA NA intronic ENSG00000144228.9 . . . 2q22.1 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPOPL 82 0 151 13 0.0792682926829268 TRUE NA ENSG00000155111.15 . BCM GRCh38.p13 chr6 110643213 110643213 + A A C Intron SNP NA NA NA NA intronic ENSG00000155111.15 . . . 6q21 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDK19 229 0 320 27 0.0778097982708934 TRUE NA ENSG00000257228.5 . BCM GRCh38.p13 chr12 41437978 41437978 + G G C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000257228.5 . . . 12q12 C3L-01598 . . . . . . . . . 9.17 D D D D N D . T N 0.590 T T T 0.248 0.339 0.461 . . . T T D D 2.284 21.500 0.995 D D 0.783 8.454 0.782 9.614 1.000 0.487 0.574 0.492 0.613 . 4.960 4.960 9.323 1.176 0.676 1.000 1.000 1.000 681 . . . . AC090531.1 350 0 542 37 0.0639032815198618 TRUE NA ENSG00000229373.9 . BCM GRCh38.p13 chr13 113919527 113919527 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229373.9 . . . 13q34 C3L-01598 0.0010 0 0 0 0 0 0 0.0016 rs772152045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00452 236 0 344 35 0.0923482849604222 TRUE NA ENSG00000207649.3 . BCM GRCh38.p13 chr16 56858592 56858592 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207649.3 . . . 16q13 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR138-2 44 0 171 12 0.0655737704918033 TRUE NA ENSG00000226137.5 . BCM GRCh38.p13 chr17 81032954 81032954 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000226137.5 . . . 17q25.3 C3L-01598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAIAP2-DT 241 1 439 34 0.0718816067653277 TRUE NA ENSG00000089327.15 . BCM GRCh38.p13 chr19 35159540 35159540 + T T G Intron SNP NA NA NA NA intronic ENSG00000089327.15 . . . 19q13.12 C3L-01598 . . . . . . . . . 0.15 T T . . . N . T N 0.099 T T T 0.005 0.431 0.188 . . T T T T T 0.078 1.897 0.655 N N -0.721 0.778 -0.946 0.558 1.000 0.372 0.546 0.464 0.492 . 2.160 -0.563 -0.860 0.555 0.494 0.000 0.450 0.242 917 . . . . FXYD5 229 0 345 28 0.0750670241286863 TRUE TRUE ENSG00000117713.20 . BCM GRCh38.p13 chr1 26697194 26697194 + C C A Nonsense_Mutation SNP ENST00000324856.13 exon1 c.C791A p.S264X exonic ENSG00000117713.20 . stopgain ENSG00000117713.20:ENST00000324856.13:exon1:c.C791A:p.S264X 1p36.11 C3L-00599 . . . . . . . . . 4.6 . . . . U A . . . 0.622 . . . . . . . . . D D . . 7.011 37 0.990 D N 0.636 6.313 0.451 4.740 1.000 0.442 0.522 0.522 0.581 . 3.520 3.520 3.810 0.915 0.446 1.000 1.000 0.997 550 . . . ID=COSV61381323;OCCURENCE=1(oesophagus),1(endometrium) ARID1A 36 0 69 6 0.08 TRUE TRUE ENSG00000127125.9 . BCM GRCh38.p13 chr1 42457258 42457262 + ATGTT ATGTT - Frame_Shift_Del DEL ENST00000372561.4 exon2 c.520_524del p.M174Lfs*15 exonic ENSG00000127125.9 . frameshift deletion ENSG00000127125.9:ENST00000372561.4:exon2:c.520_524del:p.M174Lfs*15 1p34.2 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPCS 160 0 218 30 0.120967741935484 TRUE TRUE ENSG00000143552.9 . BCM GRCh38.p13 chr1 154058167 154058167 + G G A Missense_Mutation SNP ENST00000368559.7 exon22 c.C3029T p.S1010F exonic ENSG00000143552.9 . nonsynonymous SNV ENSG00000143552.9:ENST00000368559.7:exon22:c.C3029T:p.S1010F 1q21.3 C3L-00599 . . . . . . . . . 3.20 T T P P N D L T N 0.369 T T T 0.127 0.449 0.690 0.612 T T T T D T 3.069 23.600 0.988 D N 0.224 3.412 0.217 3.267 0.000 0.487 0.590 0.574 0.479 . 4.760 3.860 3.761 1.176 0.676 1.000 0.957 0.625 85 . . . ID=COSV55157757;OCCURENCE=1(stomach),1(skin) NUP210L 174 0 359 31 0.0794871794871795 TRUE TRUE ENSG00000143507.18 . BCM GRCh38.p13 chr1 221702429 221702429 + C C T Missense_Mutation SNP ENST00000366899.4 exon4 c.G1432A p.V478M exonic ENSG00000143507.18 . nonsynonymous SNV ENSG00000143507.18:ENST00000366899.4:exon4:c.G1432A:p.V478M 1q41 C3L-00599 6.594e-05 0 0 0.0006 0 4.499e-05 0 0 rs546305993 5.20 T D D B N D L T N 0.109 T T T 0.121 0.292 0.393 0.359 T T T T T D 2.621 22.700 0.988 D N -0.033 2.397 0.085 2.672 1.000 0.632 0.698 0.602 0.621 . 5.720 4.800 3.243 0.138 0.599 0.995 0.928 0.652 914 . . . ID=COSV60457434;OCCURENCE=1(stomach) DUSP10 150 0 292 16 0.051948051948052 TRUE TRUE ENSG00000077522.13 . BCM GRCh38.p13 chr1 236731272 236731272 + G G A Missense_Mutation SNP ENST00000366578.6 exon7 c.G655A p.A219T exonic ENSG00000077522.13 . nonsynonymous SNV ENSG00000077522.13:ENST00000366578.6:exon7:c.G655A:p.A219T 1q43 C3L-00599 . . . . . . . . . 18.20 D D D D D D H T D 0.882 D D D 0.807 0.859 0.881 1.942 T D D D D D 4.262 29.200 0.999 D D 1.098 17.436 0.966 16.881 1.000 0.554 0.547 0.602 0.621 . 4.870 4.870 9.998 1.176 0.676 1.000 0.658 0.893 427 Calponin_homology_domain . . ID=COSV63978630;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) ACTN2 258 1 567 37 0.0612582781456954 TRUE TRUE ENSG00000198626.17 . BCM GRCh38.p13 chr1 237733718 237733718 + G G A Missense_Mutation SNP ENST00000366574.7 exon79 c.G11053A p.D3685N exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon79:c.G11053A:p.D3685N 1q43 C3L-00599 . . . . . . . . . 18.19 D . D D U D M D D 0.847 D D D 0.804 0.445 0.975 1.569 D D D D D D 4.807 33 0.999 D D 0.990 13.626 0.952 16.174 1.000 0.554 0.574 0.602 0.564 . 5.790 5.790 9.593 1.176 0.676 1.000 1.000 0.996 818 . . . . RYR2 221 0 419 35 0.0770925110132159 TRUE TRUE ENSG00000075426.12 . BCM GRCh38.p13 chr2 28408795 28408795 + C C T Missense_Mutation SNP ENST00000264716.9 exon3 c.C391T p.R131W exonic ENSG00000075426.12 . nonsynonymous SNV ENSG00000075426.12:ENST00000264716.9:exon3:c.C391T:p.R131W 2p23.2 C3L-00599 . . . . . . . . . 20.20 D D D D D D M D D 0.830 D D D 0.831 0.600 0.938 3.317 D D D D D D 4.104 27.800 0.998 D D 0.257 3.566 0.146 2.931 1.000 0.731 0.670 0.659 0.649 . 5.450 3.030 1.571 -0.162 -0.700 1.000 0.995 0.945 448 Basic-leucine_zipper_domain . . ID=COSV53103773;OCCURENCE=2(large_intestine),1(biliary_tract) FOSL2 67 0 232 22 0.0866141732283465 TRUE TRUE ENSG00000144057.15 . BCM GRCh38.p13 chr2 106843434 106843434 + T T C Missense_Mutation SNP ENST00000409382.7 exon2 c.A544G p.R182G exonic ENSG00000144057.15 . nonsynonymous SNV ENSG00000144057.15:ENST00000409382.7:exon2:c.A544G:p.R182G 2q12.3 C3L-00599 . . . . . . . . . 0.20 T T B B N N L T N 0.088 T T T 0.018 0.296 0.072 0.633 T T T T T T 0.433 5.787 0.953 N N -1.155 0.261 -1.161 0.317 0.544 0.646 0.574 0.645 0.564 . 5.090 -4.430 -0.120 -0.028 0.580 0.000 0.010 0.879 872 . . . . ST6GAL2 176 0 386 57 0.128668171557562 TRUE TRUE ENSG00000226321.5 . BCM GRCh38.p13 chr2 240959324 240959324 + G G T Missense_Mutation SNP ENST00000443866.2 exon20 c.G2973T p.E991D exonic ENSG00000226321.5 . nonsynonymous SNV ENSG00000226321.5:ENST00000443866.2:exon20:c.G2973T:p.E991D 2q37.3 C3L-00599 . . . . . . . . . 0.9 . T . . . . . . . 0.059 T T . 0.022 . 0.048 . . T T T T . 0.913 10.570 0.879 N N -0.758 0.718 -0.931 0.578 1.000 0.581 0.563 0.576 0.613 . 3.390 -2.060 0.204 0.245 0.616 0.084 0.527 0.727 970 . . . . CROCC2 112 0 231 29 0.111538461538462 TRUE TRUE ENSG00000082684.16 . BCM GRCh38.p13 chr3 122913279 122913279 + G G A Missense_Mutation SNP ENST00000357599.8 exon17 c.C2426T p.P809L exonic ENSG00000082684.16 . nonsynonymous SNV ENSG00000082684.16:ENST00000357599.8:exon17:c.C2426T:p.P809L 3q21.1 C3L-00599 . . . . . . . . . 15.20 D D D D D D M T D 0.955 T T D 0.418 0.407 0.808 0.402 T T D D D D 4.293 29.500 0.999 D D 0.830 9.405 0.785 9.695 1.000 0.788 0.574 0.000 0.530 . 4.640 4.640 9.819 1.073 0.674 1.000 0.979 0.945 708 . . . ID=COSV52094717;OCCURENCE=1(oesophagus),1(skin),1(prostate) SEMA5B 148 0 431 34 0.0731182795698925 TRUE TRUE ENSG00000047662.5 . BCM GRCh38.p13 chr4 17709628 17709628 + T T A Missense_Mutation SNP ENST00000265018.4 exon2 c.A158T p.N53I exonic ENSG00000047662.5 . nonsynonymous SNV ENSG00000047662.5:ENST00000265018.4:exon2:c.A158T:p.N53I 4p15.31 C3L-00599 . . . . . . . . . 16.20 D D D D D D M T D 0.867 D D D 0.636 0.405 0.466 . T T D D D T 4.056 27.400 0.990 D D 0.664 6.646 0.629 6.609 1.000 0.554 0.588 0.602 0.564 . 5.170 5.170 4.886 1.138 0.665 1.000 0.998 0.993 790 Protein_FAM184A/B,_N-terminal . . . FAM184B 46 0 101 9 0.0818181818181818 TRUE TRUE ENSG00000109436.8 . BCM GRCh38.p13 chr4 140622446 140622446 + C C T Missense_Mutation SNP ENST00000442267.3 exon21 c.G3550A p.G1184R exonic ENSG00000109436.8 . nonsynonymous SNV ENSG00000109436.8:ENST00000442267.3:exon21:c.G3550A:p.G1184R 4q31.21 C3L-00599 1.675e-05 0 0 0 0 1.518e-05 0 6.086e-05 rs778747040 9.20 D D D P D D L T N 0.348 T T T 0.080 . 0.043 1.097 T T T T D D 3.568 24.900 0.996 D D 0.213 3.359 0.172 3.048 1.000 0.707 0.634 0.659 0.714 . 5.010 4.170 5.841 1.026 0.599 1.000 0.814 0.969 878 . . . . TBC1D9 175 1 375 21 0.053030303030303 TRUE NA ENSG00000064651.14 . BCM GRCh38.p13 chr5 128131082 128131082 + T T C Missense_Mutation SNP ENST00000262461.7 exon5 c.T1064C p.L355S exonic ENSG00000064651.14 . nonsynonymous SNV ENSG00000064651.14:ENST00000262461.7:exon5:c.T1064C:p.L355S 5q23.3 C3L-00599 . . . . . . . . . 20.20 D D D D D D H D D 0.930 D D D 0.968 0.759 0.930 2.045 D D D D D D 4.290 29.500 0.999 D D 0.917 11.485 0.816 10.621 1.000 0.651 0.709 0.653 0.646 . 4.930 4.930 7.674 1.138 0.665 1.000 1.000 0.997 762 Amino_acid_permease/_SLC12A_domain . . . SLC12A2 151 0 257 16 0.0586080586080586 TRUE TRUE ENSG00000160883.11 . BCM GRCh38.p13 chr5 176889487 176889487 + C C T Missense_Mutation SNP ENST00000292432.10 exon8 c.G808A p.V270I exonic ENSG00000160883.11 . nonsynonymous SNV ENSG00000160883.11:ENST00000292432.10:exon8:c.G808A:p.V270I 5q35.2 C3L-00599 2.477e-05 9.658e-05 8.651e-05 0 0 1.503e-05 0 0 rs150272942 3.20 T T B B N N N D N 0.154 T D D 0.257 . 0.742 0.099 T T T T T T -0.756 0.032 0.219 N N -1.247 0.195 -1.164 0.314 0.944 0.516 0.610 0.602 0.542 . 5.480 1.670 -0.828 0.129 -0.232 0.000 0.106 0.008 547 Hexokinase,_C-terminal . . ID=COSV52838042;OCCURENCE=1(large_intestine) HK3 249 0 391 39 0.0906976744186047 TRUE TRUE ENSG00000232040.4 . BCM GRCh38.p13 chr6 28573526 28573526 + C C A Missense_Mutation SNP ENST00000452236.3 exon4 c.G2363T p.S788I exonic ENSG00000232040.4 . nonsynonymous SNV ENSG00000232040.4:ENST00000452236.3:exon4:c.G2363T:p.S788I 6p22.1 C3L-00599 . . . . . . . . . 4.20 T D D D U N L T N 0.377 T T T 0.071 0.250 0.397 1.205 T T T T D T 2.633 22.700 0.992 N N 0.237 3.469 0.170 3.041 0.819 0.554 0.588 0.602 0.530 . 2.270 2.270 1.858 0.877 0.599 1.000 1.000 0.998 680 . . . . ZBED9 224 0 357 53 0.129268292682927 TRUE TRUE ENSG00000007866.21 . BCM GRCh38.p13 chr6 35486559 35486559 + C C T Nonsense_Mutation SNP ENST00000338863.12 exon2 c.G104A p.W35X exonic ENSG00000007866.21 . stopgain ENSG00000007866.21:ENST00000338863.12:exon2:c.G104A:p.W35X 6p21.31 C3L-00599 . . . . . . . . . 6.8 . . . . D D . . . . . . D . . . . . . T T D . 7.234 37 0.994 D D 0.862 10.106 0.722 8.193 1.000 0.554 0.547 0.522 0.568 . 5.150 5.150 7.896 1.026 0.547 1.000 1.000 0.998 607 TEA/ATTS_domain . . . TEAD3 209 0 467 26 0.0527383367139959 TRUE NA ENSG00000135250.17 . BCM GRCh38.p13 chr7 105143317 105143317 + G G A Missense_Mutation SNP ENST00000357311.7 exon9 c.C794T p.S265F exonic ENSG00000135250.17 . nonsynonymous SNV ENSG00000135250.17:ENST00000357311.7:exon9:c.C794T:p.S265F 7q22.3 C3L-00599 . . . . . . . . . 14.20 D D D D D D M T D 0.698 T T D 0.413 0.288 0.599 2.079 T T D T D D 4.404 31 0.998 D D 0.911 11.332 0.895 13.554 1.000 0.563 0.654 0.602 0.492 . 5.680 5.680 9.332 1.176 0.676 1.000 1.000 1.000 683 Protein_kinase_domain . . ID=COSV100623721;OCCURENCE=1(skin) SRPK2 98 0 232 29 0.111111111111111 TRUE TRUE ENSG00000133612.19 . BCM GRCh38.p13 chr7 151117765 151117765 + G G A Missense_Mutation SNP ENST00000622464.4 exon6 c.G586A p.V196M exonic ENSG00000133612.19 . nonsynonymous SNV ENSG00000133612.19:ENST00000622464.4:exon6:c.G586A:p.V196M 7q36.1 C3L-00599 . . . . . . . . . 18.20 D D D D N D H T D 0.863 D D D 0.674 0.698 0.834 2.586 D D D D D D 4.376 31 0.999 D D 0.890 10.806 0.782 9.619 1.000 0.707 0.702 0.723 0.714 . 4.290 4.290 8.129 1.157 0.595 1.000 0.999 0.997 940 . . . . AGAP3 73 1 170 23 0.119170984455959 TRUE TRUE ENSG00000137055.15 . BCM GRCh38.p13 chr9 26905581 26905584 + TTTA TTTA - Frame_Shift_Del DEL ENST00000397292.8 exon14 c.2315_2318del p.I772Kfs*12 exonic ENSG00000137055.15 . frameshift deletion ENSG00000137055.15:ENST00000397292.8:exon14:c.2315_2318del:p.I772Kfs*12 9p21.2 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLAA 129 0 164 30 0.154639175257732 TRUE TRUE ENSG00000172159.16 . BCM GRCh38.p13 chr9 83313738 83313738 + G G C Missense_Mutation SNP ENST00000304195.8 exon7 c.C606G p.S202R exonic ENSG00000172159.16 . nonsynonymous SNV ENSG00000172159.16:ENST00000304195.8:exon7:c.C606G:p.S202R 9q21.32 C3L-00599 . . . . . . . . . 15.20 D D B B D D M D N 0.537 D D D 0.559 0.546 0.775 0.334 T D D T D D 2.451 22.300 0.993 D D -0.033 2.397 -0.008 2.331 0.004 0.554 0.574 0.602 0.568 . 5.900 1.430 1.208 1.176 0.676 1.000 0.997 0.927 948 0.000 . . . FRMD3 145 0 316 17 0.0510510510510511 TRUE NA ENSG00000110442.12 . BCM GRCh38.p13 chr11 36278499 36278499 + T T C Missense_Mutation SNP ENST00000263401.10 exon3 c.A295G p.T99A exonic ENSG00000110442.12 . nonsynonymous SNV ENSG00000110442.12:ENST00000263401.10:exon3:c.A295G:p.T99A 11p13 C3L-00599 . . . . . . . . . 12.20 D D D P D D M T D 0.878 T T T 0.191 0.570 0.324 0.539 T T D T D D 3.315 24.200 0.996 D D 0.457 4.717 0.535 5.493 1.000 0.713 0.725 0.636 0.714 . 5.910 5.910 6.696 1.138 0.665 1.000 0.999 0.992 902 . . . . COMMD9 237 0 416 37 0.0816777041942605 TRUE TRUE ENSG00000130037.5 . BCM GRCh38.p13 chr12 5045048 5045048 + A A G Missense_Mutation SNP ENST00000252321.5 exon1 c.A901G p.S301G exonic ENSG00000130037.5 . nonsynonymous SNV ENSG00000130037.5:ENST00000252321.5:exon1:c.A901G:p.S301G 12p13.32 C3L-00599 . . . . . . . . . 9.20 T T P B N N L D N 0.234 D D D 0.407 0.201 1.000 0.594 T D D D T T 1.639 16.630 0.976 D D -0.024 2.427 0.068 2.605 0.944 0.598 0.590 0.596 0.542 . 4.770 4.770 3.515 0.265 -0.118 0.951 0.013 0.019 680 Ion_transport_domain . . . KCNA5 202 0 353 20 0.0536193029490617 TRUE TRUE ENSG00000121380.12 . BCM GRCh38.p13 chr12 12094797 12094797 + A A C Missense_Mutation SNP ENST00000308721.9 exon5 c.A812C p.K271T exonic ENSG00000121380.12 . nonsynonymous SNV ENSG00000121380.12:ENST00000308721.9:exon5:c.A812C:p.K271T 12p13.2 C3L-00599 . . . . . . . . . 11.19 D D D D D D M T D 0.644 T T D 0.294 0.513 0.533 0.613 T T T T D . 3.245 24.000 0.998 D N 0.440 4.600 0.353 4.042 0.910 0.615 0.588 0.659 0.635 . 4.730 2.440 2.670 1.312 0.756 1.000 0.983 0.797 964 . . . . BCL2L14 368 1 682 85 0.110821382007823 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-00599 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 274 2 400 76 0.159663865546218 TRUE TRUE ENSG00000118946.12 . BCM GRCh38.p13 chr13 57634446 57634446 + C C A Missense_Mutation SNP ENST00000377918.8 exon1 c.C1900A p.H634N exonic ENSG00000118946.12 . nonsynonymous SNV ENSG00000118946.12:ENST00000377918.8:exon1:c.C1900A:p.H634N 13q21.1 C3L-00599 . . . . . . . . . 4.20 T T P P D D N T N 0.318 T T T 0.142 0.531 0.615 . T T T T D T 3.198 23.900 0.956 D N 0.217 3.377 0.327 3.876 1.000 0.583 0.574 0.615 0.568 . 5.500 3.620 3.921 1.019 0.591 1.000 1.000 0.999 835 Cadherin-like . . . PCDH17 225 0 492 122 0.198697068403909 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673799 7673799 + A A C Missense_Mutation SNP ENST00000269305.8 exon8 c.T821G p.V274G exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.T821G:p.V274G 17p13.1 C3L-00599 . . . . . . . . rs1057520006 18.20 D D D D N D M D D 0.569 D D D 0.865 0.792 0.968 0.435 T D D D D D 4.121 27.900 0.997 D D 0.750 7.875 0.657 7.022 1.000 0.722 0.702 0.725 0.735 . 4.920 4.920 9.325 1.307 0.751 0.980 0.981 0.989 432 p53,_DNA-binding_domain . . ID=COSV52761348;OCCURENCE=8(breast),1(liver),2(large_intestine),1(central_nervous_system),1(ovary),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(prostate),2(lung),1(endometrium) TP53 583 2 828 128 0.133891213389121 TRUE TRUE ENSG00000189051.5 . BCM GRCh38.p13 chr17 8393131 8393131 + C C T Missense_Mutation SNP ENST00000399398.2 exon3 c.G331A p.A111T exonic ENSG00000189051.5 . nonsynonymous SNV ENSG00000189051.5:ENST00000399398.2:exon3:c.G331A:p.A111T 17p13.1 C3L-00599 . . . . . . . . . 0.19 T T B B N N N . N 0.016 T T T 0.004 0.171 0.014 . T T T T T T -0.465 0.141 0.844 N N -1.480 0.088 -1.462 0.123 0.972 0.403 0.547 0.578 0.563 . 4.210 -1.370 -0.405 -0.333 -0.328 0.000 0.000 0.001 283 . . . . RNF222 56 0 104 13 0.111111111111111 TRUE NA ENSG00000170310.15 . BCM GRCh38.p13 chr17 9491904 9491904 + C C T Missense_Mutation SNP ENST00000306357.9 exon6 c.G466A p.D156N exonic ENSG00000170310.15 . nonsynonymous SNV ENSG00000170310.15:ENST00000306357.9:exon6:c.G466A:p.D156N 17p13.1 C3L-00599 . . . . . . . . . 13.19 D D D D D D M . D 0.631 T T D 0.648 0.731 0.477 0.220 T T T T D D 4.030 27.200 0.999 D D 0.691 6.998 0.643 6.810 0.998 0.706 0.710 0.659 0.613 . 5.880 4.910 5.190 1.022 0.545 1.000 0.994 0.991 912 Target_SNARE_coiled-coil_homology_domain . . . STX8 147 0 280 29 0.0938511326860841 TRUE TRUE ENSG00000166292.12 . BCM GRCh38.p13 chr17 55720907 55720907 + C C T Missense_Mutation SNP ENST00000424486.3 exon2 c.G164A p.R55H exonic ENSG00000166292.12 . nonsynonymous SNV ENSG00000166292.12:ENST00000424486.3:exon2:c.G164A:p.R55H 17q22 C3L-00599 4.942e-05 9.61e-05 0 0 0 4.495e-05 0 0.0001 rs746630975 16.19 D D D D D D M . D 0.852 T T D 0.736 . 0.248 1.018 T D D D D D 4.037 27.300 1.000 D D 0.830 9.397 0.816 10.616 1.000 0.554 0.563 0.602 0.542 . 5.790 5.790 5.777 1.026 0.599 1.000 1.000 0.998 899 . . . ID=COSV70118095;OCCURENCE=1(endometrium) TMEM100 178 0 421 45 0.0965665236051502 TRUE TRUE ENSG00000062725.10 . BCM GRCh38.p13 chr17 60479182 60479182 + G G T Missense_Mutation SNP ENST00000083182.8 exon4 c.C469A p.L157I exonic ENSG00000062725.10 . nonsynonymous SNV ENSG00000062725.10:ENST00000083182.8:exon4:c.C469A:p.L157I 17q23.2 C3L-00599 . . . . . . . . . 8.20 T T P P D D N T N 0.370 T T D 0.304 0.497 0.433 0.967 D T T T D D 3.157 23.800 0.967 D D 0.448 4.655 0.532 5.466 1.000 0.745 0.732 0.725 0.714 . 5.300 5.300 6.311 1.176 0.676 1.000 1.000 0.999 640 . . . . APPBP2 123 1 252 32 0.112676056338028 TRUE TRUE ENSG00000129646.14 . BCM GRCh38.p13 chr17 76282066 76282066 + G G A Missense_Mutation SNP ENST00000262765.10 exon8 c.C3563T p.T1188M exonic ENSG00000129646.14 . nonsynonymous SNV ENSG00000129646.14:ENST00000262765.10:exon8:c.C3563T:p.T1188M 17q25.1 C3L-00599 5.164e-05 0 0.0004 0 0 0 0 0.0001 rs200506337 7.19 D D D D . N L T D 0.352 T T D 0.126 . 0.355 0.687 T T T T T T 3.521 24.800 0.999 D N 0.558 5.523 0.570 5.863 1.000 0.646 0.588 0.602 0.700 . 5.380 5.380 4.966 1.176 0.676 0.968 0.950 0.926 964 . . . ID=COSV53158270;OCCURENCE=1(large_intestine) QRICH2 108 0 290 23 0.073482428115016 TRUE TRUE ENSG00000095066.11 . BCM GRCh38.p13 chr19 12766151 12766151 + T T C Missense_Mutation SNP ENST00000397668.7 exon15 c.A1463G p.H488R exonic ENSG00000095066.11 . nonsynonymous SNV ENSG00000095066.11:ENST00000397668.7:exon15:c.A1463G:p.H488R 19p13.13 C3L-00599 . . . . . . . . . 0.20 T T P B N N L T N 0.223 T T T 0.042 0.286 0.212 0.380 T T T T T T 2.251 21.200 0.937 N N -0.078 2.246 0.038 2.495 1.000 0.658 0.404 0.780 0.297 . 4.770 4.770 2.145 1.123 0.590 1.000 1.000 0.986 624 . . . . HOOK2 117 0 330 30 0.0833333333333333 TRUE TRUE ENSG00000124191.18 . BCM GRCh38.p13 chr20 44065875 44065875 + G G A Missense_Mutation SNP ENST00000358131.5 exon6 c.G1070A p.R357Q exonic ENSG00000124191.18 . nonsynonymous SNV ENSG00000124191.18:ENST00000358131.5:exon6:c.G1070A:p.R357Q 20q13.12 C3L-00599 7.575e-05 0 0 0.0002 0 9.201e-05 0 6.157e-05 rs773686339 5.20 T T D D N D L T N 0.267 T T T 0.127 0.305 0.217 1.049 T T T T T D 3.512 24.700 0.998 D N 0.067 2.757 0.049 2.536 0.176 0.615 0.634 0.576 0.655 . 5.110 4.160 5.442 1.172 0.672 1.000 0.995 0.941 754 . . . ID=COSV57882392;OCCURENCE=2(large_intestine),1(pancreas),2(skin),1(prostate) TOX2 77 0 239 20 0.0772200772200772 TRUE TRUE ENSG00000100109.17 . BCM GRCh38.p13 chr22 26499235 26499235 + A A G Missense_Mutation SNP ENST00000407690.6 exon9 c.T1198C p.C400R exonic ENSG00000100109.17 . nonsynonymous SNV ENSG00000100109.17:ENST00000407690.6:exon9:c.T1198C:p.C400R 22q12.1 C3L-00599 . . . . . . . . . 15.20 D D D D D D M T D 0.928 T T D 0.524 0.847 0.851 1.599 T T D D D D 4.192 28.600 0.996 D D 0.636 6.312 0.571 5.876 1.000 0.722 0.702 0.702 0.735 . 5.670 4.620 6.529 1.312 0.756 1.000 0.865 0.542 978 GC-rich_sequence_DNA-binding_factor-like_domain . . . TFIP11 62 0 119 9 0.0703125 TRUE TRUE ENSG00000158578.21 . BCM GRCh38.p13 chrX 55009229 55009229 + C C T Missense_Mutation SNP ENST00000650242.1 exon11 c.G1715A p.R572H exonic ENSG00000158578.21 . nonsynonymous SNV ENSG00000158578.21:ENST00000650242.1:exon11:c.G1715A:p.R572H Xp11.21 C3L-00599 . . . . . . . . . 14.19 D D D D N D L D N 0.783 D D D 0.699 0.288 0.994 1.470 T T D D D D 3.604 25.100 0.998 D . . . . . 1.000 . . . . . 5.390 4.530 4.937 1.026 0.599 1.000 1.000 0.992 106 . . . . ALAS2 82 0 175 19 0.0979381443298969 TRUE TRUE ENSG00000171603.18 . BCM GRCh38.p13 chr1 9744438 9744438 + G G A Silent SNP ENST00000377298.9 exon8 c.C1191T p.F397F exonic ENSG00000171603.18 . synonymous SNV ENSG00000171603.18:ENST00000377298.9:exon8:c.C1191T:p.F397F 1p36.22 C3L-00599 1.654e-05 0 0 0 0 3.009e-05 0 0 rs764400696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLSTN1 181 0 260 15 0.0545454545454545 TRUE NA ENSG00000154007.7 . BCM GRCh38.p13 chr1 75919030 75919030 + G G A Silent SNP ENST00000284142.7 exon3 c.C810T p.T270T exonic ENSG00000154007.7 . synonymous SNV ENSG00000154007.7:ENST00000284142.7:exon3:c.C810T:p.T270T 1p31.1 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASB17 189 1 266 25 0.0859106529209622 TRUE TRUE ENSG00000135638.14 . BCM GRCh38.p13 chr2 72918203 72918203 + C C T Silent SNP ENST00000258106.11 exon1 c.C351T p.L117L exonic ENSG00000135638.14 . synonymous SNV ENSG00000135638.14:ENST00000258106.11:exon1:c.C351T:p.L117L 2p13.2 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EMX1 107 0 225 13 0.0546218487394958 TRUE TRUE ENSG00000169836.5 . BCM GRCh38.p13 chr4 103656302 103656302 + C C T Silent SNP ENST00000304883.3 exon3 c.G780A p.L260L exonic ENSG00000169836.5 . synonymous SNV ENSG00000169836.5:ENST00000304883.3:exon3:c.G780A:p.L260L 4q24 C3L-00599 8.255e-06 0 0 0.0001 0 0 0 0 rs768209062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TACR3 305 1 471 45 0.0872093023255814 TRUE NA ENSG00000137312.15 . BCM GRCh38.p13 chr6 30740502 30740502 + C C T Silent SNP ENST00000376389.8 exon7 c.G564A p.G188G exonic ENSG00000137312.15 . synonymous SNV ENSG00000137312.15:ENST00000376389.8:exon7:c.G564A:p.G188G 6p21.33 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLOT1 187 0 345 26 0.0700808625336927 TRUE TRUE ENSG00000147912.13 . BCM GRCh38.p13 chr9 37516074 37516074 + G G A Silent SNP ENST00000432825.7 exon10 c.C2526T p.N842N exonic ENSG00000147912.13 . synonymous SNV ENSG00000147912.13:ENST00000432825.7:exon10:c.C2526T:p.N842N 9p13.2 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXO10 85 0 142 19 0.118012422360248 TRUE TRUE ENSG00000165204.3 . BCM GRCh38.p13 chr9 122800923 122800923 + C C T Silent SNP ENST00000277309.3 exon1 c.C801T p.R267R exonic ENSG00000165204.3 . synonymous SNV ENSG00000165204.3:ENST00000277309.3:exon1:c.C801T:p.R267R 9q33.2 C3L-00599 3.323e-05 0 0 0 0 0 0 0.0002 rs773435922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR1K1 178 0 384 21 0.0518518518518519 TRUE NA ENSG00000170370.12 . BCM GRCh38.p13 chr10 117548154 117548154 + G G T Silent SNP ENST00000553456.5 exon3 c.G681T p.G227G exonic ENSG00000170370.12 . synonymous SNV ENSG00000170370.12:ENST00000553456.5:exon3:c.G681T:p.G227G 10q26.11 C3L-00599 . . . . . . . . . 3.11 . D . . . D . . . 0.412 T T T 0.062 - 0.756 . . . T T T T 1.158 13.290 0.990 D N 0.241 3.487 0.335 3.930 1.000 0.598 0.596 0.615 0.530 . 5.240 5.240 1.976 1.176 0.665 1.000 1.000 0.998 752 . . . ID=COSV101463626;OCCURENCE=1(lung) EMX2 477 0 776 91 0.104959630911188 TRUE TRUE ENSG00000002016.18 . BCM GRCh38.p13 chr12 916659 916659 + C C T Silent SNP ENST00000358495.8 exon8 c.G705A p.A235A exonic ENSG00000002016.18 . synonymous SNV ENSG00000002016.18:ENST00000358495.8:exon8:c.G705A:p.A235A 12p13.33 C3L-00599 3.424e-05 0 0 0 0 4.648e-05 0 6.174e-05 rs367718256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAD52 110 0 210 13 0.0582959641255605 TRUE NA ENSG00000179284.5 . BCM GRCh38.p13 chr19 12969798 12969798 + G G T Silent SNP ENST00000317060.3 exon1 c.G138T p.G46G exonic ENSG00000179284.5 . synonymous SNV ENSG00000179284.5:ENST00000317060.3:exon1:c.G138T:p.G46G 19p13.13 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DAND5 61 0 120 13 0.0977443609022556 TRUE TRUE ENSG00000187187.14 . BCM GRCh38.p13 chr19 40013768 40013768 + C C T Silent SNP ENST00000347077.9 exon7 c.C498T p.I166I exonic ENSG00000187187.14 . synonymous SNV ENSG00000187187.14:ENST00000347077.9:exon7:c.C498T:p.I166I 19q13.2 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF546 84 0 182 20 0.099009900990099 TRUE TRUE ENSG00000218891.5 . BCM GRCh38.p13 chr19 55578524 55578524 + G G A Silent SNP ENST00000325421.7 exon2 c.C1116T p.A372A exonic ENSG00000218891.5 . synonymous SNV ENSG00000218891.5:ENST00000325421.7:exon2:c.C1116T:p.A372A 19q13.42 C3L-00599 0 0 0 0 0 0 0 0 rs538352819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF579 27 0 118 8 0.0634920634920635 TRUE NA ENSG00000088827.12 . BCM GRCh38.p13 chr20 3699389 3699389 + G G A Silent SNP ENST00000344754.5 exon7 c.C1599T p.S533S exonic ENSG00000088827.12 . synonymous SNV ENSG00000088827.12:ENST00000344754.5:exon7:c.C1599T:p.S533S 20p13 C3L-00599 4.568e-05 0 0 0 0 5.992e-05 0 8.126e-05 rs745634651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99165570;OCCURENCE=1(stomach),1(endometrium) SIGLEC1 332 0 655 182 0.217443249701314 TRUE NA ENSG00000147059.8 . BCM GRCh38.p13 chrX 57135977 57135977 + A A G Silent SNP ENST00000374908.1 exon1 c.T621C p.D207D exonic ENSG00000147059.8 . synonymous SNV ENSG00000147059.8:ENST00000374908.1:exon1:c.T621C:p.D207D Xp11.21 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPIN2A 94 0 150 41 0.214659685863874 NA TRUE ENSG00000231482.3 . BCM GRCh38.p13 chr2 1540908 1540908 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000231482.3 . . . 2p25.3 C3L-00599 . . . . . . . . . 1.12 D . . . . N . T N . T T . 0.019 0.256 0.507 . . . T T T T 0.358 4.961 0.444 N N -0.530 1.119 -0.716 0.876 0.999 0.581 0.574 0.576 0.613 . 1.380 1.380 0.969 0.760 0.440 0.179 0.016 0.011 934 . . . . AC105450.1 84 0 131 23 0.149350649350649 TRUE TRUE ENSG00000104518.11 . BCM GRCh38.p13 chr8 143560980 143560980 + C C T Intron SNP NA NA NA NA intronic ENSG00000104518.11 . . . 8q24.3 C3L-00599 8.771e-06 0 0 0 0 0 0 6.192e-05 rs780783370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52796670;OCCURENCE=1(large_intestine) GSDMD 205 0 455 55 0.107843137254902 TRUE NA ENSG00000041982.16 . BCM GRCh38.p13 chr9 115053002 115053002 + C C A Intron SNP NA NA NA NA intronic ENSG00000041982.16 . . . 9q33.1 C3L-00599 . . . . . . . . . 3.14 T T . . . D . T N 0.281 T T T 0.042 0.516 0.334 . . . T T T T 1.861 18.190 0.976 D D 0.217 3.379 0.271 3.555 1.000 0.487 0.563 0.574 0.564 . 5.870 4.010 2.637 1.026 0.599 1.000 0.983 0.929 552 Fibronectin_type_III . . . TNC 101 0 197 32 0.139737991266376 TRUE TRUE ENSG00000284108.1 . BCM GRCh38.p13 chr11 61792533 61792533 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000284108.1 . . . 11q12.2 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR611 227 0 491 47 0.087360594795539 TRUE NA ENSG00000239438.1 . BCM GRCh38.p13 chr14 78243356 78243356 + G G A IGR SNP NA NA NA NA intergenic ENSG00000239438.1;ENSG00000258723.1 dist=11737;dist=36216 . . 14q24.3 C3L-00599 7.917e-05 0 0 0 0 0 0 0.0003 rs368733653 4.7 . D . . . . . . . 0.256 T T . 0.106 . . . . T . . . D 3.272 24.000 0.998 D D 0.406 4.379 0.505 5.201 0.996 0.638 0.590 0.653 0.564 . 6.160 5.270 3.946 1.176 0.676 1.000 0.998 0.986 555 Laminin_G_domain . . . RPS26P48 86 0 207 12 0.0547945205479452 TRUE NA ENSG00000221525.1 . BCM GRCh38.p13 chr14 101043045 101043045 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000221525.1 . . . 14q32.31 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR1185-1 163 0 150 35 0.189189189189189 TRUE NA ENSG00000165246.14 . BCM GRCh38.p13 chrY 14524716 14524716 + C C G 5'UTR SNP NA NA NA NA UTR5 ENSG00000165246.14 ENST00000339174.9:c.-97404C>G . . Yq11.221 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLGN4Y 272 0 347 89 0.204128440366972 TRUE NA ENSG00000178226.11 . BCM GRCh38.p13 chr16 31139215 31139216 + GG GG CA Unknown MNP ENST00000268281.9 exon15 c.2490_2491delinsTG p.P831A exonic ENSG00000178226.11 . nonframeshift substitution ENSG00000178226.11:ENST00000268281.9:exon15:c.2490_2491delinsTG:p.P831A 16p11.2 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS36 90 0 175 5 0.0277777777777778 TRUE NA ENSG00000141736.13 . BCM GRCh38.p13 chr17 39711955 39711956 + CC CC AT Unknown MNP ENST00000269571.9 exon8 c.929_930delinsAT p.S310Y exonic ENSG00000141736.13 . nonframeshift substitution ENSG00000141736.13:ENST00000269571.9:exon8:c.929_930delinsAT:p.S310Y 17q12 C3L-00599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54073235;OCCURENCE=1(NS),1(endometrium) ERBB2 276 0 515 38 0.0687160940325497 TRUE NA ENSG00000092853.14 . BCM GRCh38.p13 chr1 35762000 35762000 + C C T Missense_Mutation SNP ENST00000318121.8 exon6 c.G893A p.R298Q exonic ENSG00000092853.14 . nonsynonymous SNV ENSG00000092853.14:ENST00000318121.8:exon6:c.G893A:p.R298Q 1p34.3 C3L-01051 0.0003 0 0 0.0039 0 0 0 6.196e-05 rs115197921 13.20 D D D D D D M T D 0.935 T T D 0.389 . 0.857 0.497 T T T D T D 4.449 32 1.000 D D 0.794 8.656 0.767 9.225 1.000 0.731 0.723 0.725 0.649 . 5.390 5.390 5.686 1.026 0.549 1.000 0.999 0.960 199 . . . ID=COSV52053868;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) CLSPN 265 0 205 30 0.127659574468085 TRUE TRUE ENSG00000170989.10 . BCM GRCh38.p13 chr1 101239855 101239855 + T T C Missense_Mutation SNP ENST00000305352.7 exon2 c.T871C p.F291L exonic ENSG00000170989.10 . nonsynonymous SNV ENSG00000170989.10:ENST00000305352.7:exon2:c.T871C:p.F291L 1p21.2 C3L-01051 . . . . . . . . . 5.20 T T B B N D L T D 0.142 T T T 0.110 0.414 0.549 1.213 T T T T D T 3.013 23.400 0.968 D D -0.125 2.097 0.060 2.575 1.000 0.714 0.672 0.609 0.617 . 5.130 5.130 6.268 1.138 0.609 1.000 0.763 0.960 708 GPCR,_rhodopsin-like,_7TM . . . S1PR1 332 1 560 58 0.0938511326860841 TRUE TRUE ENSG00000179639.10 . BCM GRCh38.p13 chr1 159303986 159303986 + G G T Missense_Mutation SNP ENST00000368115.5 exon4 c.G135T p.E45D exonic ENSG00000179639.10 . nonsynonymous SNV ENSG00000179639.10:ENST00000368115.5:exon4:c.G135T:p.E45D 1q23.2 C3L-01051 . . . . . . . . . 0.20 T T B B N N N T N 0.085 T T T 0.125 0.821 0.273 0.030 T T T T T T -0.620 0.066 0.095 N N -1.538 0.070 -1.547 0.091 0.026 0.554 0.588 0.574 0.564 . 4.700 -3.990 -1.977 -0.218 -0.244 0.000 0.361 0.892 785 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV63668419;OCCURENCE=1(endometrium) FCER1A 325 0 326 37 0.101928374655647 TRUE TRUE ENSG00000116127.18 . BCM GRCh38.p13 chr2 73452010 73452010 + T T A Nonsense_Mutation SNP ENST00000613296.5 exon8 c.T5483A p.L1828X exonic ENSG00000116127.18 . stopgain ENSG00000116127.18:ENST00000613296.5:exon8:c.T5483A:p.L1828X 2p13.1 C3L-01051 . . . . . . . . . 4.6 . . . . D A . . . 0.799 . . . . . . . . . D D . . 5.803 35 0.969 N N -0.019 2.446 -0.370 1.428 1.000 0.707 0.686 0.725 0.684 . 4.240 1.890 0.998 1.138 0.665 0.008 0.002 0.384 492 . . . . ALMS1 416 0 485 40 0.0761904761904762 TRUE TRUE ENSG00000239305.7 . BCM GRCh38.p13 chr2 86604132 86604132 + C C T Missense_Mutation SNP ENST00000237455.5 exon4 c.G1769A p.R590K exonic ENSG00000239305.7 . nonsynonymous SNV ENSG00000239305.7:ENST00000237455.5:exon4:c.G1769A:p.R590K 2p11.2 C3L-01051 . . . . . . . . . 1.20 T T B B N D L T N 0.078 T T T 0.144 0.336 0.280 0.224 T T T T T T 1.101 12.780 0.910 N N -0.810 0.640 -0.775 0.793 0.521 0.706 0.725 0.710 0.714 . 5.510 4.630 0.810 0.121 0.549 0.001 0.619 0.741 603 . . . ID=COSV52893523;OCCURENCE=1(thymus) RNF103 400 1 436 29 0.0623655913978495 TRUE TRUE ENSG00000168702.18 . BCM GRCh38.p13 chr2 140716036 140716036 + C C T Missense_Mutation SNP ENST00000389484.8 exon37 c.G5960A p.R1987H exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon37:c.G5960A:p.R1987H 2q22.1 C3L-01051 3.306e-05 0 0 0 0 6.008e-05 0 0 rs202025670 18.20 D D D D U D M D D 0.939 D D D 0.946 0.807 0.814 0.694 T D D D D D 4.089 27.700 0.999 D D 0.873 10.385 0.822 10.799 1.000 0.487 0.574 0.574 0.564 . 5.130 5.130 7.858 1.026 0.599 1.000 1.000 0.999 944 . . . . LRP1B 148 0 129 17 0.116438356164384 TRUE NA ENSG00000144285.21 . BCM GRCh38.p13 chr2 166041268 166041268 + G G A Missense_Mutation SNP ENST00000303395.8 exon15 c.C2378T p.T793M exonic ENSG00000144285.21 . nonsynonymous SNV ENSG00000144285.21:ENST00000303395.8:exon15:c.C2378T:p.T793M 2q24.3 C3L-01051 8.241e-05 0 8.643e-05 0.0008 0 2.998e-05 0 0 rs762038032 18.20 D D D D D D M D D 0.527 D D D 0.724 0.350 0.983 1.720 T D T D D D 3.498 24.700 0.999 D D 0.774 8.291 0.730 8.358 0.363 0.554 0.574 0.602 0.564 . 5.540 5.540 5.173 1.176 0.618 1.000 0.790 0.919 497 Ion_transport_domain . . ID=COSV100321456;OCCURENCE=1(stomach) SCN1A 291 0 228 40 0.149253731343284 TRUE NA ENSG00000138449.11 . BCM GRCh38.p13 chr2 189571757 189571757 + A A C Missense_Mutation SNP ENST00000261024.7 exon5 c.T472G p.W158G exonic ENSG00000138449.11 . nonsynonymous SNV ENSG00000138449.11:ENST00000261024.7:exon5:c.T472G:p.W158G 2q32.2 C3L-01051 . . . . . . . . . 19.20 D D D D D D H D D 0.921 D D D 0.977 0.875 0.939 1.817 T D D D D D 4.542 32 0.979 D D 0.891 10.818 0.845 11.605 1.000 0.706 0.574 0.590 0.613 . 5.290 5.290 9.114 1.312 0.756 1.000 0.980 0.998 779 . . . . SLC40A1 412 0 388 57 0.128089887640449 TRUE TRUE ENSG00000144481.17 . BCM GRCh38.p13 chr2 233969705 233969705 + C C T Missense_Mutation SNP ENST00000324695.9 exon16 c.C2036T p.S679F exonic ENSG00000144481.17 . nonsynonymous SNV ENSG00000144481.17:ENST00000324695.9:exon16:c.C2036T:p.S679F 2q37.1 C3L-01051 . . . . . . . . . 20.20 D D D D D D M D D 0.781 D D D 0.877 0.473 0.998 0.698 D D D D D D 4.127 28.000 0.998 D D 0.779 8.388 0.759 9.011 1.000 0.487 0.574 0.547 0.564 . 5.420 5.420 5.841 1.022 0.596 1.000 0.999 0.998 929 . . . . TRPM8 294 0 263 54 0.170347003154574 TRUE NA ENSG00000163378.14 . BCM GRCh38.p13 chr3 68988951 68988951 + G G A Missense_Mutation SNP ENST00000383701.8 exon11 c.C898T p.H300Y exonic ENSG00000163378.14 . nonsynonymous SNV ENSG00000163378.14:ENST00000383701.8:exon11:c.C898T:p.H300Y 3p14.1 C3L-01051 . . . . . . . . . 7.19 T T B B D D M T N 0.591 T T D 0.201 0.574 0.283 . . T T T D T 2.793 23.000 0.992 D D 0.131 3.011 0.331 3.900 1.000 0.745 0.602 0.744 0.762 . 5.720 5.720 9.455 1.146 0.618 1.000 0.998 0.964 645 . . . . EOGT 201 0 130 27 0.171974522292994 TRUE TRUE ENSG00000181722.16 . BCM GRCh38.p13 chr3 114339367 114339367 + T T C Missense_Mutation SNP ENST00000474710.5 exon5 c.A1864G p.I622V exonic ENSG00000181722.16 . nonsynonymous SNV ENSG00000181722.16:ENST00000474710.5:exon5:c.A1864G:p.I622V 3q13.31 C3L-01051 . . . . . . . . . 8.20 D D P P D D N T N 0.461 T T T 0.224 0.458 0.313 1.905 D T T T D T 3.124 23.700 0.995 D D 0.461 4.748 0.572 5.889 1.000 0.563 0.654 0.602 0.492 . 6.170 6.170 6.167 1.138 0.665 1.000 1.000 0.998 840 Zinc_finger_C2H2-type . . . ZBTB20 297 0 442 86 0.162878787878788 TRUE TRUE ENSG00000169704.4 . BCM GRCh38.p13 chr3 129061900 129061900 + G G A Missense_Mutation SNP ENST00000307395.4 exon3 c.G161A p.R54H exonic ENSG00000169704.4 . nonsynonymous SNV ENSG00000169704.4:ENST00000307395.4:exon3:c.G161A:p.R54H 3q21.3 C3L-01051 8.725e-06 0 0 0 0 0 0 6.174e-05 rs763418097 7.20 D D D D U N L T N 0.447 T T D 0.238 0.457 0.582 0.769 T T T T D D 3.441 24.500 0.999 N N 0.061 2.733 -0.072 2.130 0.944 0.497 0.590 0.578 0.613 . 4.170 4.170 1.079 1.121 0.676 0.015 0.959 0.202 654 Leucine-rich_repeat_N-terminal_domain . . ID=COSV56624094;OCCURENCE=1(lung) GP9 628 0 1358 122 0.0824324324324324 TRUE TRUE ENSG00000171757.17 . BCM GRCh38.p13 chr3 169795603 169795603 + A A G Missense_Mutation SNP ENST00000446859.7 exon10 c.T1073C p.V358A exonic ENSG00000171757.17 . nonsynonymous SNV ENSG00000171757.17:ENST00000446859.7:exon10:c.T1073C:p.V358A 3q26.2 C3L-01051 5.021e-05 0 0 0 0.0006 1.526e-05 0.0011 0 rs543612719 8.18 D D P P D D . T D 0.837 T T T 0.346 . 0.670 0.372 T . T T D T 3.571 24.900 0.999 D D 0.527 5.250 0.506 5.218 0.999 0.638 0.670 0.618 0.568 . 5.190 5.190 5.941 1.288 0.691 0.924 0.971 0.782 469 . . . . LRRC34 143 0 93 48 0.340425531914894 TRUE NA ENSG00000186001.14 . BCM GRCh38.p13 chr3 197870242 197870244 + AGA AGA - In_Frame_Del DEL ENST00000425562.7 exon18 c.1956_1958del p.E655del exonic ENSG00000186001.14 . nonframeshift deletion ENSG00000186001.14:ENST00000425562.7:exon18:c.1956_1958del:p.E655del 3q29 C3L-01051 2.471e-05 0 0 0.0001 0 1.499e-05 0 6.058e-05 rs759920668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRCH3 288 0 257 76 0.228228228228228 TRUE TRUE ENSG00000145451.13 . BCM GRCh38.p13 chr4 174677269 174677269 + G G A Nonsense_Mutation SNP ENST00000274093.8 exon7 c.C736T p.R246X exonic ENSG00000145451.13 . stopgain ENSG00000145451.13:ENST00000274093.8:exon7:c.C736T:p.R246X 4q34.1 C3L-01051 1.665e-05 9.662e-05 0 0 0 1.513e-05 0 0 rs201620617 5.6 . . . . D A . . . 0.634 . . . . . . . . . D D . . 6.442 36 0.996 D N 0.252 3.542 0.064 2.592 0.002 0.487 0.574 0.574 0.564 . 5.560 2.850 0.599 -0.140 -0.106 0.324 0.998 0.991 963 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . ID=COSV56859263;OCCURENCE=1(large_intestine),2(stomach) GLRA3 131 0 153 23 0.130681818181818 TRUE TRUE ENSG00000164253.14 . BCM GRCh38.p13 chr5 77464805 77464805 + C C T Missense_Mutation SNP ENST00000296679.9 exon3 c.G172A p.A58T exonic ENSG00000164253.14 . nonsynonymous SNV ENSG00000164253.14:ENST00000296679.9:exon3:c.G172A:p.A58T 5q13.3 C3L-01051 . . . . . . . . . 17.20 D D D D D D M T D 0.724 D D D 0.646 0.600 0.859 0.266 T T D D D D 3.944 26.600 0.999 D D 0.769 8.199 0.744 8.651 1.000 0.732 0.663 0.659 0.728 . 5.530 5.530 5.208 1.026 0.599 1.000 1.000 0.993 686 WD40-repeat-containing_domain . . . WDR41 285 0 327 40 0.108991825613079 TRUE TRUE ENSG00000164402.14 . BCM GRCh38.p13 chr5 132762605 132762605 + G G A Missense_Mutation SNP ENST00000378719.7 exon5 c.C575T p.S192F exonic ENSG00000164402.14 . nonsynonymous SNV ENSG00000164402.14:ENST00000378719.7:exon5:c.C575T:p.S192F 5q31.1 C3L-01051 . . . . . . . . . 19.20 D D D D D D M T D 0.907 D D D 0.427 0.580 0.766 1.203 D D D D D D 4.142 28.100 0.998 D D 1.010 14.240 0.950 16.084 1.000 0.706 0.725 0.710 0.714 . 5.980 5.980 6.817 1.176 0.618 1.000 1.000 0.987 898 Septin-type_guanine_nucleotide-binding_(G)_domain . . . SEPTIN8 270 0 456 61 0.117988394584139 TRUE TRUE ENSG00000145934.16 . BCM GRCh38.p13 chr5 168228075 168228075 + G G A Missense_Mutation SNP ENST00000518659.5 exon25 c.G5465A p.R1822H exonic ENSG00000145934.16 . nonsynonymous SNV ENSG00000145934.16:ENST00000518659.5:exon25:c.G5465A:p.R1822H 5q34 C3L-01051 . . . . . . . . . 19.20 D D D D D D M D D 0.889 D D D 0.838 0.583 0.895 1.389 D T D D D D 4.433 31 0.999 D D 0.968 12.948 0.938 15.480 1.000 0.615 0.166 0.659 0.635 . 5.660 5.660 9.964 1.176 0.676 1.000 0.998 0.995 917 . . . ID=COSV69124662;OCCURENCE=1(large_intestine),1(pancreas) TENM2 319 0 552 90 0.14018691588785 TRUE TRUE ENSG00000095970.17 . BCM GRCh38.p13 chr6 41158768 41158768 + G G A Missense_Mutation SNP ENST00000373113.8 exon5 c.C689T p.T230M exonic ENSG00000095970.17 . nonsynonymous SNV ENSG00000095970.17:ENST00000373113.8:exon5:c.C689T:p.T230M 6p21.1 C3L-01051 4.119e-05 0 0 0 0 1.498e-05 0 0.0002 rs368921728 2.19 D D B B N N . T N 0.093 T T T 0.023 . 0.153 0.294 T T T T T T 1.460 15.480 0.957 N N -0.954 0.455 -1.050 0.430 0.997 0.554 0.590 0.618 0.564 . 4.360 -1.960 -0.099 -0.136 0.665 0.000 0.003 0.101 674 . . . . TREM2 761 0 1094 265 0.194996320824135 TRUE NA ENSG00000146216.13 . BCM GRCh38.p13 chr6 43263156 43263156 + C C T Missense_Mutation SNP ENST00000259750.9 exon13 c.C1792T p.R598C exonic ENSG00000146216.13 . nonsynonymous SNV ENSG00000146216.13:ENST00000259750.9:exon13:c.C1792T:p.R598C 6p21.1 C3L-01051 3.717e-05 0 0 0 0 7.438e-05 0 0 rs374064146 10.20 D T D D D D M T N 0.627 T T D 0.190 . 0.159 1.208 T T T T D D 4.057 27.400 0.999 D N 0.547 5.425 0.525 5.398 1.000 0.581 0.547 0.576 0.563 . 5.290 4.360 3.514 0.120 -0.176 1.000 0.966 0.985 184 . . . . TTBK1 107 0 464 38 0.0756972111553785 TRUE NA ENSG00000171453.20 . BCM GRCh38.p13 chr6 43517134 43517134 + G G A Missense_Mutation SNP ENST00000642195.1 exon1 c.G25A p.E9K exonic ENSG00000171453.20 . nonsynonymous SNV ENSG00000171453.20:ENST00000642195.1:exon1:c.G25A:p.E9K 6p21.1 C3L-01051 . . . . . . . . . 11.20 T T B B D D M D N 0.664 T T D 0.486 0.334 0.846 0.095 T T D D D D 2.658 22.700 0.997 D D 0.352 4.060 0.373 4.172 1.000 0.442 0.522 0.522 0.562 . 5.230 5.230 8.320 1.176 0.676 1.000 0.076 0.229 217 . . . . POLR1C 491 0 1627 779 0.323773898586866 TRUE TRUE ENSG00000180113.16 . BCM GRCh38.p13 chr6 46688636 46688636 + G G A Missense_Mutation SNP ENST00000316081.11 exon1 c.G508A p.V170I exonic ENSG00000180113.16 . nonsynonymous SNV ENSG00000180113.16:ENST00000316081.11:exon1:c.G508A:p.V170I 6p12.3 C3L-01051 . . . . . . . . . 11.20 D D D D D D M T N 0.245 T T D 0.218 0.431 0.342 0.105 T T T T D T 2.952 23.300 0.998 D D 0.627 6.205 0.580 5.977 1.000 0.517 0.574 0.479 0.542 . 5.470 5.470 6.416 1.101 0.590 1.000 0.994 0.978 505 . . . ID=COSV60174750;OCCURENCE=1(large_intestine),2(stomach) TDRD6 217 0 533 94 0.149920255183413 TRUE TRUE ENSG00000075618.18 . BCM GRCh38.p13 chr7 5603377 5603377 + C C T Missense_Mutation SNP ENST00000382361.8 exon2 c.C953T p.T318M exonic ENSG00000075618.18 . nonsynonymous SNV ENSG00000075618.18:ENST00000382361.8:exon2:c.C953T:p.T318M 7p22.1 C3L-01051 7.479e-05 0 0.0004 0.0003 0 1.517e-05 0 0 rs150576558 10.20 D D D D D D M T N 0.745 T T D 0.240 . 0.500 1.254 T T T T T T 3.879 26.200 0.999 D D 0.619 6.122 0.564 5.800 1.000 0.672 0.698 0.698 0.711 . 4.750 4.750 5.020 -0.256 0.599 1.000 0.428 0.949 929 Fascin_domain . . . FSCN1 335 0 611 109 0.151388888888889 TRUE NA ENSG00000055609.18 . BCM GRCh38.p13 chr7 152148728 152148728 + C C T Missense_Mutation SNP ENST00000262189.11 exon52 c.G13199A p.R4400Q exonic ENSG00000055609.18 . nonsynonymous SNV ENSG00000055609.18:ENST00000262189.11:exon52:c.G13199A:p.R4400Q 7q36.1 C3L-01051 . . . . . . . . . 18.20 D D D D U D M D D 0.840 D D D 0.830 0.579 0.955 1.388 T D D D D D 4.067 27.500 0.998 D D 0.758 8.021 0.691 7.585 1.000 0.707 0.725 0.725 0.714 . 5.240 5.240 7.905 1.026 0.599 1.000 0.998 0.999 789 Extended_PHD_(ePHD)_domain . . ID=COSV51466658;OCCURENCE=2(breast),2(large_intestine) KMT2C 413 0 537 99 0.155660377358491 TRUE TRUE ENSG00000198010.12 . BCM GRCh38.p13 chr8 1668602 1668602 + G G T Missense_Mutation SNP ENST00000421627.7 exon9 c.G2081T p.R694L exonic ENSG00000198010.12 . nonsynonymous SNV ENSG00000198010.12:ENST00000421627.7:exon9:c.G2081T:p.R694L 8p23.3 C3L-01051 . . . . . . . . . 2.17 . T B B N N L . . 0.297 T T T 0.074 0.377 0.143 0.126 T T T T T D 2.499 22.400 0.938 D N -0.357 1.480 -0.275 1.617 0.996 0.487 0.574 0.000 0.564 . 5.010 5.010 3.568 1.121 0.676 0.998 0.207 0.366 964 . . . . DLGAP2 209 0 344 77 0.182897862232779 TRUE TRUE ENSG00000158669.11 . BCM GRCh38.p13 chr8 41612180 41612180 + G G C Missense_Mutation SNP ENST00000396987.7 exon7 c.G702C p.R234S exonic ENSG00000158669.11 . nonsynonymous SNV ENSG00000158669.11:ENST00000396987.7:exon7:c.G702C:p.R234S 8p11.21 C3L-01051 . . . . . . . . . 12.20 T T B B D D M D N 0.302 D D D 0.348 0.330 0.920 1.147 T D D T D T 3.138 23.700 0.982 D D -0.017 2.453 0.108 2.768 1.000 0.707 0.725 0.725 0.714 . 5.270 4.400 1.918 1.176 0.676 1.000 0.993 0.980 760 Phospholipid/glycerol_acyltransferase . . . GPAT4 185 0 228 96 0.296296296296296 TRUE TRUE ENSG00000121005.9 . BCM GRCh38.p13 chr8 75029429 75029429 + C C T Nonsense_Mutation SNP ENST00000262207.9 exon14 c.C1363T p.R455X exonic ENSG00000121005.9 . stopgain ENSG00000121005.9:ENST00000262207.9:exon14:c.C1363T:p.R455X 8q21.13 C3L-01051 . . . . . . . . rs149361480 4.6 . . . . N A . . . 0.451 . . . . . . . . . D D . . 7.468 38 0.997 D N 0.850 9.843 0.715 8.041 0.015 0.693 0.574 0.659 0.668 . 5.290 5.290 2.061 1.026 0.599 0.998 0.998 0.933 886 LCCL_domain . . ID=COSV51546711;OCCURENCE=1(kidney),2(skin) CRISPLD1 313 1 390 26 0.0625 TRUE TRUE ENSG00000104327.7 . BCM GRCh38.p13 chr8 90060643 90060643 + C C T Missense_Mutation SNP ENST00000265431.7 exon10 c.G658A p.E220K exonic ENSG00000104327.7 . nonsynonymous SNV ENSG00000104327.7:ENST00000265431.7:exon10:c.G658A:p.E220K 8q21.3 C3L-01051 1.648e-05 0 0.0002 0 0 0 0 0 rs761899367 16.20 D D P P D D N D D 0.533 D D D 0.651 0.674 0.916 1.185 T D D D D D 3.842 26.000 0.999 D D 0.594 5.861 0.659 7.055 1.000 0.693 0.588 0.659 0.613 . 5.800 5.800 6.636 1.008 0.599 1.000 0.997 0.973 927 EF-hand_domain . . . CALB1 238 0 227 61 0.211805555555556 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21974781 21974781 + - NA GT Frame_Shift_Ins INS ENST00000304494.9 exon1 c.46_47insAC p.L16Hfs*11 exonic ENSG00000147889.17 . frameshift insertion ENSG00000147889.17:ENST00000304494.9:exon1:c.46_47insAC:p.L16Hfs*11 9p21.3 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A NA NA NA NA NA NA NA ENSG00000119522.16 . BCM GRCh38.p13 chr9 123381647 123381647 + C C T Missense_Mutation SNP ENST00000373624.6 exon22 c.G2815A p.G939R exonic ENSG00000119522.16 . nonsynonymous SNV ENSG00000119522.16:ENST00000373624.6:exon22:c.G2815A:p.G939R 9q33.3 C3L-01051 . . . . . . . . . 11.20 D D D P D D M T N 0.131 T T D 0.165 0.348 0.194 0.856 T T T T D D 3.274 24.100 0.999 D D 0.404 4.370 0.436 4.626 1.000 0.635 0.644 0.645 0.655 . 5.110 5.110 1.366 1.026 0.599 0.998 1.000 0.989 379 . . . . DENND1A 196 0 307 74 0.194225721784777 TRUE NA ENSG00000136895.19 . BCM GRCh38.p13 chr9 127318094 127318094 + C C T Missense_Mutation SNP ENST00000373387.9 exon5 c.C470T p.P157L exonic ENSG00000136895.19 . nonsynonymous SNV ENSG00000136895.19:ENST00000373387.9:exon5:c.C470T:p.P157L 9q33.3 C3L-01051 . . . . . . . . . 18.20 D D D P D D M D D 0.714 D D D 0.696 0.418 0.871 0.602 D T D D D D 3.782 25.800 0.991 D D 0.735 7.634 0.761 9.053 1.000 0.615 0.624 0.659 0.568 . 5.870 5.870 6.652 1.026 0.599 1.000 1.000 0.998 599 . . . . GARNL3 410 0 386 45 0.104408352668213 TRUE TRUE ENSG00000156671.15 . BCM GRCh38.p13 chr10 75168626 75168626 + G G A Missense_Mutation SNP ENST00000542569.6 exon4 c.G760A p.V254M exonic ENSG00000156671.15 . nonsynonymous SNV ENSG00000156671.15:ENST00000542569.6:exon4:c.G760A:p.V254M 10q22.2 C3L-01051 . . . . . . . . . 20.20 D D D D D D M D D 0.774 D D D 0.753 0.823 0.985 2.877 D D D D D D 4.128 28.000 0.999 D D 0.944 12.238 0.919 14.593 1.000 0.706 0.725 0.710 0.714 . 5.580 5.580 10.003 1.176 0.676 1.000 1.000 1.000 23 . . . . SAMD8 349 2 479 27 0.0533596837944664 TRUE NA ENSG00000099204.20 . BCM GRCh38.p13 chr10 114547744 114547744 + C C G Missense_Mutation SNP ENST00000277895.9 exon5 c.G706C p.G236R exonic ENSG00000099204.20 . nonsynonymous SNV ENSG00000099204.20:ENST00000277895.9:exon5:c.G706C:p.G236R 10q25.3 C3L-01051 . . . . . . . . . 16.20 D D D D N D L D D 0.944 T T D 0.875 0.536 0.909 1.285 D D D D D D 3.813 25.900 0.999 D D 0.524 5.227 0.604 6.275 1.000 0.742 0.588 0.659 0.662 . 5.660 5.660 7.727 1.026 0.599 1.000 0.991 0.957 905 Zinc_finger,_LIM-type . . . ABLIM1 233 0 444 70 0.136186770428016 TRUE NA ENSG00000189057.11 . BCM GRCh38.p13 chr11 59126196 59126196 + G G A Missense_Mutation SNP ENST00000343597.4 exon4 c.G2099A p.S700N exonic ENSG00000189057.11 . nonsynonymous SNV ENSG00000189057.11:ENST00000343597.4:exon4:c.G2099A:p.S700N 11q12.1 C3L-01051 . . . . . . . . . 0.20 T T B B N N L T N 0.039 T T T 0.012 0.129 0.198 0.050 T T T T T T -0.824 0.022 0.482 N N -1.552 0.067 -1.638 0.065 0.016 0.707 0.725 0.651 0.636 . 3.230 -4.110 -1.154 0.056 -0.259 0.000 0.014 0.001 626 . . . . FAM111B 157 0 95 9 0.0865384615384615 TRUE TRUE ENSG00000175513.9 . BCM GRCh38.p13 chr11 65948132 65948132 + C C T Nonsense_Mutation SNP ENST00000532620.5 exon4 c.C1135T p.R379X exonic ENSG00000175513.9 . stopgain ENSG00000175513.9:ENST00000532620.5:exon4:c.C1135T:p.R379X 11q13.1 C3L-01051 6.758e-05 0.0002 0 0 0 0 0 0.0003 rs758452043 2.4 . . . . . . . . . 0.155 . . . . . . . . . T T . . 6.592 36 0.908 D D . . . . 0.870 0.162 0.090 0.175 0.075 . 4.710 2.820 0.697 -0.265 -0.821 0.996 0.996 0.947 229 . . . ID=COSV73245228;OCCURENCE=1(cervix),1(stomach),1(small_intestine) TSGA10IP 168 0 248 30 0.107913669064748 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227342 25227342 + T T A Missense_Mutation SNP ENST00000256078.10 exon3 c.A182T p.Q61L exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A182T:p.Q61L 12p12.1 C3L-01051 . . . . . . . . rs121913240 18.20 D D D P D D M D D 0.829 D D D 0.885 0.640 0.979 2.605 D D D D D T 4.098 27.700 0.996 D D 0.891 10.832 0.851 11.816 1.000 0.722 0.710 0.710 0.735 . 5.770 5.770 8.004 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55504296;OCCURENCE=1(salivary_gland),2(breast),64(large_intestine),1(central_nervous_system),6(biliary_tract),1(ovary),1(NS),2(stomach),6(haematopoietic_and_lymphoid_tissue),1(kidney),3(urinary_tract),1(soft_tissue),13(pancreas),7(skin),2(prostate),20(lung),3(thyroid),1(testis),1(small_intestine),4(endometrium) KRAS 271 1 337 5 0.0146198830409357 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01051 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 435 0 426 76 0.151394422310757 TRUE TRUE ENSG00000173157.17 . BCM GRCh38.p13 chr12 43502256 43502256 + T T G Missense_Mutation SNP ENST00000389420.8 exon4 c.A763C p.I255L exonic ENSG00000173157.17 . nonsynonymous SNV ENSG00000173157.17:ENST00000389420.8:exon4:c.A763C:p.I255L 12q12 C3L-01051 . . . . . . . . . 0.17 T T . . N N N T N 0.171 T T T 0.115 0.361 0.281 0.034 T . T T T T -0.565 0.087 0.502 N N -1.522 0.075 -1.371 0.167 0.007 0.487 0.574 0.574 0.564 . 4.660 -4.030 0.235 -0.464 -0.715 0.982 0.954 0.946 700 . . . . ADAMTS20 305 2 247 35 0.124113475177305 TRUE TRUE ENSG00000167548.15 . BCM GRCh38.p13 chr12 49049745 49049745 + T T - Frame_Shift_Del DEL ENST00000301067.11 exon11 c.3843delA p.G1282Afs*48 exonic ENSG00000167548.15 . frameshift deletion ENSG00000167548.15:ENST00000301067.11:exon11:c.3843delA:p.G1282Afs*48 12q13.12 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KMT2D 95 0 155 13 0.0773809523809524 NA TRUE ENSG00000179626.4 . BCM GRCh38.p13 chr12 55551357 55551357 + T T C Missense_Mutation SNP ENST00000641569.1 exon2 c.T131C p.I44T exonic ENSG00000179626.4 . nonsynonymous SNV ENSG00000179626.4:ENST00000641569.1:exon2:c.T131C:p.I44T 12q13.2 C3L-01051 . . . . . . . . . 7.20 D D D P N N M T D 0.465 T T T 0.107 0.608 0.873 0.001 T T T T D D 3.259 24.000 0.998 N N 0.431 4.542 0.289 3.652 0.001 0.487 0.574 0.574 0.564 . 4.770 4.770 5.830 1.051 0.665 0.885 0.931 0.033 682 GPCR,_rhodopsin-like,_7TM . . . OR6C4 321 0 309 54 0.148760330578512 TRUE TRUE ENSG00000137877.10 . BCM GRCh38.p13 chr15 41869906 41869906 + G G A Nonsense_Mutation SNP ENST00000320955.8 exon32 c.C5788T p.R1930X exonic ENSG00000137877.10 . stopgain ENSG00000137877.10:ENST00000320955.8:exon32:c.C5788T:p.R1930X 15q15.1 C3L-01051 3.355e-05 0 0 0 0 6.575e-05 0 0 rs771424817 3.6 . . . . N A . . . 0.190 . . . . . . . . . D D . . 5.678 34 0.991 N N 0.025 2.601 -0.334 1.495 1.000 0.563 0.610 0.578 0.636 . 4.700 1.740 -0.019 1.175 0.675 0.000 0.005 0.017 197 . . . . SPTBN5 71 0 301 33 0.0988023952095808 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674242 7674242 + A A G Missense_Mutation SNP ENST00000269305.8 exon7 c.T721C p.S241P exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.T721C:p.S241P 17p13.1 C3L-01051 . . . . . . . . rs1057520002 19.20 D D D D D D M D D 0.929 D D D 0.954 0.967 0.989 0.429 T D D D D D 4.092 27.700 0.998 D D 0.568 5.615 0.450 4.732 0.000 0.722 0.702 0.725 0.735 . 4.620 3.530 1.438 1.305 0.751 1.000 0.999 0.997 433 p53,_DNA-binding_domain . . ID=COSV52670786;OCCURENCE=1(breast),1(oesophagus),2(large_intestine),1(central_nervous_system),3(haematopoietic_and_lymphoid_tissue),1(urinary_tract),1(pancreas),1(skin),2(prostate),1(endometrium) TP53 452 1 728 130 0.151515151515152 TRUE TRUE ENSG00000136492.9 . BCM GRCh38.p13 chr17 61799107 61799107 + G G A Missense_Mutation SNP ENST00000259008.7 exon9 c.C1333T p.L445F exonic ENSG00000136492.9 . nonsynonymous SNV ENSG00000136492.9:ENST00000259008.7:exon9:c.C1333T:p.L445F 17q23.2 C3L-01051 . . . . . . . . . 15.20 D T D D D D M T D 0.527 D D D 0.540 0.423 0.980 0.461 T T D D D D 3.502 24.700 0.999 D N 0.643 6.389 0.631 6.635 0.205 0.615 0.654 0.659 0.655 . 5.610 5.610 3.555 1.176 0.618 1.000 1.000 0.996 47 . . . . BRIP1 464 2 410 69 0.144050104384134 TRUE TRUE ENSG00000182938.7 . BCM GRCh38.p13 chr17 74941593 74941593 + G G A Missense_Mutation SNP ENST00000328801.6 exon2 c.G220A p.G74R exonic ENSG00000182938.7 . nonsynonymous SNV ENSG00000182938.7:ENST00000328801.6:exon2:c.G220A:p.G74R 17q25.1 C3L-01051 . . . . . . . . . 13.16 . . D D D D M . . . T T D 0.358 0.665 0.432 0.221 D T D D D D 3.888 26.300 0.999 D D 0.627 6.210 0.565 5.816 0.873 0.497 0.590 0.578 0.542 . 4.860 4.860 6.145 1.176 0.676 1.000 0.800 0.906 923 . . . . OTOP3 96 0 237 16 0.0632411067193676 TRUE NA ENSG00000105732.13 . BCM GRCh38.p13 chr19 42080648 42080648 + G G T Missense_Mutation SNP ENST00000359044.5 exon2 c.G2042T p.R681L exonic ENSG00000105732.13 . nonsynonymous SNV ENSG00000105732.13:ENST00000359044.5:exon2:c.G2042T:p.R681L 19q13.2 C3L-01051 . . . . . . . . . 4.19 D T P B D N L T N 0.682 T T T 0.213 0.417 0.129 1.131 D T T T T T 2.565 22.600 0.994 D . -0.418 1.344 -0.365 1.436 0.999 0.672 0.698 0.702 0.636 . 5.500 4.460 1.388 1.176 0.676 0.009 0.993 0.942 846 Zinc_finger_C2H2-type . . . ZNF574 253 0 585 51 0.080188679245283 TRUE TRUE ENSG00000186806.5 . BCM GRCh38.p13 chr19 51334281 51334281 + T T A Missense_Mutation SNP ENST00000335624.4 exon8 c.A2329T p.I777F exonic ENSG00000186806.5 . nonsynonymous SNV ENSG00000186806.5:ENST00000335624.4:exon8:c.A2329T:p.I777F 19q13.41 C3L-01051 . . . . . . . . . 10.20 D D D D D D M T N 0.496 T T D 0.272 0.406 0.312 . T T T T D T 3.128 23.700 0.989 D N 0.634 6.283 0.539 5.533 0.959 0.696 0.627 0.723 0.568 . 5.360 5.360 1.647 1.135 0.609 1.000 0.953 0.326 970 . . . . VSIG10L 246 0 458 96 0.173285198555957 TRUE TRUE ENSG00000087460.25 . BCM GRCh38.p13 chr20 58909365 58909365 + C C T Missense_Mutation SNP ENST00000371100.8 exon8 c.C2530T p.R844C exonic ENSG00000087460.25 . nonsynonymous SNV ENSG00000087460.25:ENST00000371100.8:exon8:c.C2530T:p.R844C 20q13.32 C3L-01051 8.238e-06 0 8.64e-05 0 0 0 0 0 rs11554273 20.20 D D D D D D H D D 0.887 D D D 0.943 0.913 0.997 3.743 D D D D D D 4.600 32 0.999 D D 0.934 11.959 0.815 10.570 1.000 0.722 0.699 0.702 0.735 . 5.530 4.530 4.121 1.026 0.599 1.000 0.910 0.934 987 . . . ID=COSV55670339;OCCURENCE=8(breast),5(parathyroid),12(liver),18(peritoneum),2(oesophagus),20(adrenal_gland),9(cervix),84(large_intestine),9(biliary_tract),17(ovary),83(bone),3(NS),3(haematopoietic_and_lymphoid_tissue),32(stomach),3(kidney),26(soft_tissue),265(pancreas),1(autonomic_ganglia),167(pituitary),2(skin),1(prostate),4(lung),8(thyroid),1(upper_aerodigestive_tract),2(testis),34(small_intestine) GNAS 759 0 1469 20 0.0134318334452653 TRUE NA ENSG00000130939.20 . BCM GRCh38.p13 chr1 10178778 10178778 + C C T Silent SNP ENST00000343090.11 exon26 c.C3660T p.R1220R exonic ENSG00000130939.20 . synonymous SNV ENSG00000130939.20:ENST00000343090.11:exon26:c.C3660T:p.R1220R 1p36.22 C3L-01051 0.0001 0.0014 0 0 0 1.503e-05 0 6.083e-05 rs146434563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53538688;OCCURENCE=1(soft_tissue) UBE4B 200 0 268 15 0.0530035335689046 TRUE TRUE ENSG00000171055.15 . BCM GRCh38.p13 chr2 36578600 36578600 + G G A Silent SNP ENST00000405912.8 exon5 c.C900T p.G300G exonic ENSG00000171055.15 . synonymous SNV ENSG00000171055.15:ENST00000405912.8:exon5:c.C900T:p.G300G 2p22.2 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FEZ2 113 1 117 14 0.106870229007634 TRUE TRUE ENSG00000135636.14 . BCM GRCh38.p13 chr2 71513858 71513858 + C C T Silent SNP ENST00000258104.7 exon6 c.C600T p.I200I exonic ENSG00000135636.14 . synonymous SNV ENSG00000135636.14:ENST00000258104.7:exon6:c.C600T:p.I200I 2p13.2 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DYSF 724 0 1245 216 0.147843942505133 TRUE TRUE ENSG00000144460.12 . BCM GRCh38.p13 chr2 225582635 225582635 + C C T Silent SNP ENST00000636099.1 exon5 c.C1218T p.A406A exonic ENSG00000144460.12 . synonymous SNV ENSG00000144460.12:ENST00000636099.1:exon5:c.C1218T:p.A406A 2q36.3 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NYAP2 85 0 221 16 0.0675105485232067 TRUE TRUE ENSG00000104447.12 . BCM GRCh38.p13 chr8 115604886 115604886 + G G A Silent SNP ENST00000640765.1 exon3 c.C1044T p.T348T exonic ENSG00000104447.12 . synonymous SNV ENSG00000104447.12:ENST00000640765.1:exon3:c.C1044T:p.T348T 8q23.3 C3L-01051 0.0005 0 0 0 0 0.0007 0.0011 0.0007 rs143724802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRPS1 348 0 404 36 0.0818181818181818 TRUE NA ENSG00000214929.4 . BCM GRCh38.p13 chr9 81993554 81993554 + T T C Silent SNP ENST00000344803.3 exon4 c.T3084C p.G1028G exonic ENSG00000214929.4 . synonymous SNV ENSG00000214929.4:ENST00000344803.3:exon4:c.T3084C:p.G1028G 9q21.32 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100782742;OCCURENCE=1(large_intestine) SPATA31D1 232 0 210 37 0.149797570850202 TRUE TRUE ENSG00000165238.16 . BCM GRCh38.p13 chr9 93289353 93289353 + G G A Silent SNP ENST00000297954.8 exon20 c.G4710A p.S1570S exonic ENSG00000165238.16 . synonymous SNV ENSG00000165238.16:ENST00000297954.8:exon20:c.G4710A:p.S1570S 9q22.31 C3L-01051 2.212e-05 0 0.0001 0 0 1.998e-05 0 0 rs750204095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52950151;OCCURENCE=1(breast),1(stomach),1(skin) WNK2 107 0 233 42 0.152727272727273 TRUE TRUE ENSG00000059915.17 . BCM GRCh38.p13 chr10 102413963 102413963 + G G A Silent SNP ENST00000020673.6 exon5 c.C1359T p.P453P exonic ENSG00000059915.17 . synonymous SNV ENSG00000059915.17:ENST00000020673.6:exon5:c.C1359T:p.P453P 10q24.32 C3L-01051 4.156e-05 0 0 0 0 0 0 0.0003 rs745853601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSD 251 0 393 70 0.151187904967603 TRUE NA ENSG00000139549.4 . BCM GRCh38.p13 chr12 49090297 49090297 + A A G Silent SNP ENST00000649637.2 exon3 c.T753C p.A251A exonic ENSG00000139549.4 . synonymous SNV ENSG00000139549.4:ENST00000649637.2:exon3:c.T753C:p.A251A 12q13.12 C3L-01051 3.228e-05 0.0003 0 0 0 0 0 0 rs146122556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DHH 256 2 612 97 0.136812411847673 TRUE NA ENSG00000184445.12 . BCM GRCh38.p13 chr12 122610879 122610879 + A A T Silent SNP ENST00000333479.12 exon53 c.A5601T p.V1867V exonic ENSG00000184445.12 . synonymous SNV ENSG00000184445.12:ENST00000333479.12:exon53:c.A5601T:p.V1867V 12q24.31 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KNTC1 297 0 206 39 0.159183673469388 TRUE TRUE ENSG00000152520.14 . BCM GRCh38.p13 chr13 28138915 28138915 + C C A Silent SNP ENST00000380958.8 exon1 c.C258A p.V86V exonic ENSG00000152520.14 . synonymous SNV ENSG00000152520.14:ENST00000380958.8:exon1:c.C258A:p.V86V 13q12.2 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAN3 25 0 61 24 0.282352941176471 TRUE NA ENSG00000125255.7 . BCM GRCh38.p13 chr13 103046190 103046190 + C C T Silent SNP ENST00000245312.5 exon6 c.G990A p.T330T exonic ENSG00000125255.7 . synonymous SNV ENSG00000125255.7:ENST00000245312.5:exon6:c.G990A:p.T330T 13q33.1 C3L-01051 7.432e-05 0 0 0.0008 0 1.502e-05 0 6.064e-05 rs148791669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55361238;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(skin) SLC10A2 394 0 371 54 0.127058823529412 TRUE TRUE ENSG00000140598.15 . BCM GRCh38.p13 chr15 82151946 82151946 + T T A Silent SNP ENST00000268206.12 exon18 c.A2508T p.L836L exonic ENSG00000140598.15 . synonymous SNV ENSG00000140598.15:ENST00000268206.12:exon18:c.A2508T:p.L836L 15q25.2 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EFL1 260 0 252 64 0.20253164556962 TRUE TRUE ENSG00000141052.17 . BCM GRCh38.p13 chr17 12753289 12753289 + C C T Silent SNP ENST00000343344.8 exon10 c.C2001T p.A667A exonic ENSG00000141052.17 . synonymous SNV ENSG00000141052.17:ENST00000343344.8:exon10:c.C2001T:p.A667A 17p12 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYOCD 141 0 142 24 0.144578313253012 TRUE TRUE ENSG00000171446.7 . BCM GRCh38.p13 chr17 40779514 40779514 + G G A Silent SNP ENST00000301656.4 exon5 c.C960T p.S320S exonic ENSG00000171446.7 . synonymous SNV ENSG00000171446.7:ENST00000301656.4:exon5:c.C960T:p.S320S 17q21.2 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT27 146 0 329 39 0.105978260869565 TRUE TRUE ENSG00000171446.7 . BCM GRCh38.p13 chr17 40779586 40779586 + G G A Silent SNP ENST00000301656.4 exon5 c.C888T p.A296A exonic ENSG00000171446.7 . synonymous SNV ENSG00000171446.7:ENST00000301656.4:exon5:c.C888T:p.A296A 17q21.2 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT27 212 0 474 63 0.11731843575419 TRUE TRUE ENSG00000105246.6 . BCM GRCh38.p13 chr19 4233177 4233177 + G G C Silent SNP ENST00000221847.6 exon3 c.G249C p.T83T exonic ENSG00000105246.6 . synonymous SNV ENSG00000105246.6:ENST00000221847.6:exon3:c.G249C:p.T83T 19p13.3 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EBI3 163 0 283 67 0.191428571428571 TRUE TRUE ENSG00000149639.15 . BCM GRCh38.p13 chr20 36817446 36817446 + G G A Silent SNP ENST00000237536.9 exon4 c.C1095T p.T365T exonic ENSG00000149639.15 . synonymous SNV ENSG00000149639.15:ENST00000237536.9:exon4:c.C1095T:p.T365T 20q11.23 C3L-01051 . . . . . . . . rs371451776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOGA1 372 0 527 66 0.111298482293423 TRUE NA ENSG00000142192.21 . BCM GRCh38.p13 chr21 26053290 26053290 + C C T Silent SNP ENST00000346798.8 exon4 c.G414A p.Q138Q exonic ENSG00000142192.21 . synonymous SNV ENSG00000142192.21:ENST00000346798.8:exon4:c.G414A:p.Q138Q 21q21.3 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100696279;OCCURENCE=1(central_nervous_system) APP 476 0 531 50 0.0860585197934595 TRUE TRUE ENSG00000273361.1 . BCM GRCh38.p13 chr2 218398478 218398478 + G G A 3'Flank SNP NA NA NA NA downstream ENSG00000273361.1 dist=265 . . 2q35 C3L-01051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC021016.2 112 0 280 21 0.0697674418604651 TRUE NA ENSG00000120952.4 . BCM GRCh38.p13 chr1 12859974 12859974 + C C T Missense_Mutation SNP ENST00000240189.2 exon3 c.C569T p.T190M exonic ENSG00000120952.4 . nonsynonymous SNV ENSG00000120952.4:ENST00000240189.2:exon3:c.C569T:p.T190M 1p36.21 C3N-01716 0.0006 0 0.0003 0 0 3.007e-05 0 0.0044 rs374389020 0.19 T T P B N N N T N 0.055 T T T 0.109 . 0.014 0.050 T T T T T . -0.707 0.042 0.047 N N -1.494 0.083 -1.546 0.092 0.000 0.487 0.547 0.547 0.564 . 0.842 -0.902 -0.645 -1.179 -0.390 0.000 0.000 0.001 940 . . . ID=COSV53575185;OCCURENCE=1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(kidney) PRAMEF2 315 0 405 74 0.154488517745303 NA TRUE ENSG00000180708.5 . BCM GRCh38.p13 chr1 158420502 158420502 + C C T Missense_Mutation SNP ENST00000641042.1 exon2 c.G365A p.R122H exonic ENSG00000180708.5 . nonsynonymous SNV ENSG00000180708.5:ENST00000641042.1:exon2:c.G365A:p.R122H 1q23.1 C3N-01716 0.0002 0 0.0003 0.0019 0 0 0 0 rs762306649 12.20 D D P B D D M T D 0.436 D T D 0.554 0.473 0.845 0.015 T T T T D D 2.468 22.300 0.998 D D 0.441 4.609 0.362 4.102 1.000 0.487 0.574 0.658 0.564 . 4.100 4.100 5.780 0.877 0.547 1.000 0.059 0.195 738 GPCR,_rhodopsin-like,_7TM . . ID=COSV59220549;OCCURENCE=1(large_intestine),1(central_nervous_system),1(stomach) OR10K2 597 0 671 149 0.181707317073171 TRUE TRUE ENSG00000116147.17 . BCM GRCh38.p13 chr1 175337560 175337560 + A A C Missense_Mutation SNP ENST00000367674.7 exon19 c.T3502G p.C1168G exonic ENSG00000116147.17 . nonsynonymous SNV ENSG00000116147.17:ENST00000367674.7:exon19:c.T3502G:p.C1168G 1q25.1 C3N-01716 . . . . . . . . . 19.20 D D D D D D H D D 0.967 D D D 0.925 0.833 0.983 2.041 T D D D D D 4.165 28.300 0.987 D D 0.990 13.598 0.887 13.192 0.997 0.516 0.563 0.547 0.586 . 5.230 5.230 8.818 1.312 0.756 1.000 0.954 0.863 647 Fibrinogen,_alpha/beta/gamma_chain,_C-terminal_globular_domain . . . TNR 274 0 416 80 0.161290322580645 TRUE TRUE ENSG00000163328.13 . BCM GRCh38.p13 chr2 174481667 174481667 + T T C Missense_Mutation SNP ENST00000392552.6 exon2 c.A290G p.N97S exonic ENSG00000163328.13 . nonsynonymous SNV ENSG00000163328.13:ENST00000392552.6:exon2:c.A290G:p.N97S 2q31.1 C3N-01716 1.649e-05 0 0 0 0 1.499e-05 0.0011 0 rs376481034 5.20 T T B B D D L T N 0.479 T T T 0.071 . 0.321 0.199 T T T T T D 2.242 21.200 0.342 D D -0.279 1.665 0.002 2.365 1.000 0.638 0.670 0.574 0.621 . 5.790 5.790 4.959 1.138 0.665 1.000 0.999 0.998 934 . . . . GPR155 389 0 413 74 0.151950718685832 TRUE NA ENSG00000078295.17 . BCM GRCh38.p13 chr5 7414671 7414671 + G G - Frame_Shift_Del NA ENST00000338316.9 exon2 c.309delG p.K104Sfs*9 exonic ENSG00000078295.17 . frameshift deletion ENSG00000078295.17:ENST00000338316.9:exon2:c.309delG:p.K104Sfs*9 5p15.31 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADCY2 296 0 354 48 0.119402985074627 TRUE TRUE ENSG00000204963.6 . BCM GRCh38.p13 chr5 140836227 140836227 + C C T Missense_Mutation SNP ENST00000525929.2 exon1 c.C1844T p.A615V exonic ENSG00000204963.6 . nonsynonymous SNV ENSG00000204963.6:ENST00000525929.2:exon1:c.C1844T:p.A615V 5q31.3 C3N-01716 . . . . . . . . . 0.18 T T B B . N N T N 0.073 T T T 0.011 0.274 0.479 . . T T T T T 0.164 2.726 0.938 N N -1.046 0.357 -1.064 0.414 0.000 0.554 0.588 0.602 0.613 . 3.670 1.820 -1.150 -0.334 0.500 0.000 0.000 0.002 31 Cadherin-like . . ID=COSV65346513;OCCURENCE=1(large_intestine) PCDHA7 502 1 760 163 0.176598049837486 TRUE TRUE ENSG00000082556.13 . BCM GRCh38.p13 chr8 53229359 53229359 + G G A Nonsense_Mutation SNP ENST00000265572.8 exon4 c.C1081T p.R361X exonic ENSG00000082556.13 . stopgain ENSG00000082556.13:ENST00000265572.8:exon4:c.C1081T:p.R361X 8q11.23 C3N-01716 8.241e-06 0 0 0.0001 0 0 0 0 rs745533525 4.6 . . . . D D . . . 0.877 . . . . . . . . . D D . . 7.193 37 0.986 N N -0.097 2.184 -0.379 1.410 0.000 0.554 0.574 0.602 0.564 . 5.800 -1.160 -0.023 0.154 -0.270 0.006 0.549 0.966 896 . . . ID=COSV55569565;OCCURENCE=2(large_intestine),1(central_nervous_system),2(stomach) OPRK1 211 0 327 69 0.174242424242424 TRUE TRUE ENSG00000154493.19 . BCM GRCh38.p13 chr10 126504763 126504763 + C C T Missense_Mutation SNP ENST00000284694.11 exon3 c.G437A p.R146H exonic ENSG00000154493.19 . nonsynonymous SNV ENSG00000154493.19:ENST00000284694.11:exon3:c.G437A:p.R146H 10q26.2 C3N-01716 . . . . . . . . rs372468399 13.19 D D D D D D M T D 0.672 T T T 0.192 . 0.406 0.474 . T D D D D 3.546 24.900 1.000 D N 0.596 5.880 0.541 5.557 0.997 0.487 0.574 0.578 0.564 . 5.100 5.100 2.401 1.026 0.599 0.971 0.232 0.516 609 . . . ID=COSV52948763;OCCURENCE=1(oesophagus),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(kidney),1(pancreas) C10orf90 86 0 105 35 0.25 TRUE TRUE ENSG00000149328.15 . BCM GRCh38.p13 chr11 134371830 134371830 + G G A Missense_Mutation SNP ENST00000535456.7 exon15 c.G1507A p.G503S exonic ENSG00000149328.15 . nonsynonymous SNV ENSG00000149328.15:ENST00000535456.7:exon15:c.G1507A:p.G503S 11q25 C3N-01716 . . . . . . . . . 19.20 D D D D D D H D D 0.948 D D D 0.964 0.823 0.613 0.668 T D D D D D 7.141 37 0.999 D D 1.069 16.248 0.988 18.129 1.000 0.660 0.588 0.696 0.568 . 5.600 5.600 8.403 1.166 0.665 1.000 1.000 0.976 975 . . . . GLB1L2 250 0 300 68 0.184782608695652 TRUE TRUE ENSG00000111247.14 . BCM GRCh38.p13 chr12 4543797 4543797 + G G T Missense_Mutation SNP ENST00000228843.13 exon3 c.G102T p.K34N exonic ENSG00000111247.14 . nonsynonymous SNV ENSG00000111247.14:ENST00000228843.13:exon3:c.G102T:p.K34N 12p13.32 C3N-01716 . . . . . . . . . 11.20 D D D D D D M T D 0.735 T T T 0.113 0.330 0.330 0.550 T T T T D D 3.758 25.600 0.998 D N 0.291 3.733 0.239 3.378 0.950 0.706 0.710 0.725 0.613 . 5.060 2.950 1.431 1.155 0.618 1.000 0.990 0.992 860 . . . . RAD51AP1 217 0 201 52 0.205533596837945 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-01716 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 397 0 468 96 0.170212765957447 TRUE TRUE ENSG00000079337.16 . BCM GRCh38.p13 chr12 47749470 47749470 + G G A Missense_Mutation SNP ENST00000449771.7 exon10 c.C961T p.R321W exonic ENSG00000079337.16 . nonsynonymous SNV ENSG00000079337.16:ENST00000449771.7:exon10:c.C961T:p.R321W 12q13.11 C3N-01716 8.263e-06 9.645e-05 0 0 0 0 0 0 rs761190001 20.20 D D D D D D H D D 0.995 D D D 0.865 0.631 0.986 0.787 D D D D D D 4.225 28.900 0.999 D D 0.946 12.291 0.807 10.344 1.000 0.706 0.634 0.710 0.714 . 4.280 4.280 2.639 1.176 0.676 0.998 0.998 0.996 894 Cyclic_nucleotide-binding_domain . . . RAPGEF3 277 0 533 130 0.196078431372549 TRUE NA ENSG00000139797.8 . BCM GRCh38.p13 chr13 98176495 98176495 + C C T Missense_Mutation SNP ENST00000267291.7 exon1 c.G742A p.E248K exonic ENSG00000139797.8 . nonsynonymous SNV ENSG00000139797.8:ENST00000267291.7:exon1:c.G742A:p.E248K 13q32.2 C3N-01716 1.647e-05 9.61e-05 0 0 0 1.498e-05 0 0 rs376379120 4.20 T D B B U D L T N 0.219 T T T 0.119 . 0.468 0.549 T T T T T D 1.666 16.800 0.992 D N -0.645 0.907 -0.683 0.925 1.000 0.554 0.588 0.604 0.728 . 1.570 0.678 3.758 -0.201 0.549 1.000 0.003 0.009 691 . . . . RNF113B 502 0 640 152 0.191919191919192 TRUE NA ENSG00000185518.11 . BCM GRCh38.p13 chr15 91251950 91251950 + G G A Missense_Mutation SNP ENST00000394232.5 exon3 c.G583A p.V195M exonic ENSG00000185518.11 . nonsynonymous SNV ENSG00000185518.11:ENST00000394232.5:exon3:c.G583A:p.V195M 15q26.1 C3N-01716 3.295e-05 0 8.642e-05 0 0 2.998e-05 0 6.058e-05 rs776050433 12.20 T D D D D D L T N 0.694 D D T 0.487 0.673 0.731 0.962 T T T D D D 3.128 23.700 0.999 D D 0.756 7.989 0.735 8.463 1.000 0.549 0.627 0.618 0.564 . 5.380 5.380 7.767 1.176 0.676 1.000 0.998 0.793 809 Major_facilitator_superfamily_domain . . ID=COSV100370469;OCCURENCE=1(large_intestine) SV2B 216 0 339 84 0.198581560283688 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674945 7674945 + G G A Nonsense_Mutation SNP ENST00000269305.8 exon6 c.C586T p.R196X exonic ENSG00000141510.17 . stopgain ENSG00000141510.17:ENST00000269305.8:exon6:c.C586T:p.R196X 17p13.1 C3N-01716 8.24e-06 0 0 0 0 1.499e-05 0 0 rs397516435 5.6 . . . . D A . . . 0.973 . . . . . . . . . D D . . 7.664 39 0.995 D N 0.403 4.363 0.225 3.306 0.406 0.722 0.698 0.702 0.735 . 5.410 4.440 2.230 1.176 0.676 1.000 1.000 0.996 433 p53,_DNA-binding_domain . . ID=COSV52663748;OCCURENCE=2(salivary_gland),52(breast),3(penis),1(liver),32(oesophagus),1(cervix),115(large_intestine),24(central_nervous_system),10(biliary_tract),17(ovary),9(NS),27(haematopoietic_and_lymphoid_tissue),35(stomach),1(soft_tissue),5(kidney),7(urinary_tract),21(pancreas),29(skin),6(prostate),19(lung),3(thyroid),24(upper_aerodigestive_tract),1(small_intestine),4(endometrium) TP53 574 0 700 195 0.217877094972067 TRUE TRUE ENSG00000101574.15 . BCM GRCh38.p13 chr18 2566868 2566868 + G G T Missense_Mutation SNP ENST00000574538.2 exon2 c.C349A p.L117M exonic ENSG00000101574.15 . nonsynonymous SNV ENSG00000101574.15:ENST00000574538.2:exon2:c.C349A:p.L117M 18p11.32 C3N-01716 . . . . . . . . . 0.20 T T B B N N L T N 0.132 T T T 0.097 0.242 0.181 0.111 T T T T T T 0.585 7.362 0.928 N N -0.704 0.806 -0.735 0.850 0.999 0.651 0.654 0.651 0.636 . 4.900 0.987 -0.340 0.141 0.596 0.000 0.056 0.951 748 . . . . METTL4 131 1 161 22 0.120218579234973 TRUE TRUE ENSG00000101574.15 . BCM GRCh38.p13 chr18 2566904 2566904 + G G C Missense_Mutation SNP ENST00000574538.2 exon2 c.C313G p.H105D exonic ENSG00000101574.15 . nonsynonymous SNV ENSG00000101574.15:ENST00000574538.2:exon2:c.C313G:p.H105D 18p11.32 C3N-01716 . . . . . . . . rs993396428 1.20 T T B B N N M T N 0.267 T T T 0.048 0.275 0.203 0.134 T T T T T T 0.502 6.530 0.722 N N -0.992 0.413 -1.014 0.471 0.999 0.651 0.654 0.651 0.636 . 5.420 0.051 1.236 0.179 -0.202 0.002 0.923 0.694 748 . . . . METTL4 206 0 271 41 0.131410256410256 TRUE TRUE ENSG00000101574.15 . BCM GRCh38.p13 chr18 2567050 2567050 + G G C Missense_Mutation SNP ENST00000574538.2 exon2 c.C167G p.S56C exonic ENSG00000101574.15 . nonsynonymous SNV ENSG00000101574.15:ENST00000574538.2:exon2:c.C167G:p.S56C 18p11.32 C3N-01716 . . . . . . . . . 0.20 T T B B N N N T N 0.155 T T T 0.038 0.302 0.187 0.094 T T T T T T 0.854 9.939 0.887 N N -1.194 0.231 -1.187 0.294 1.000 0.707 0.654 0.725 0.636 . 5.340 -2.810 0.172 0.232 -0.273 0.003 0.070 0.019 748 . . . ID=COSV55249767;OCCURENCE=1(urinary_tract) METTL4 252 0 360 58 0.138755980861244 TRUE TRUE ENSG00000101574.15 . BCM GRCh38.p13 chr18 2567160 2567160 + G G C Missense_Mutation SNP ENST00000574538.2 exon2 c.C57G p.I19M exonic ENSG00000101574.15 . nonsynonymous SNV ENSG00000101574.15:ENST00000574538.2:exon2:c.C57G:p.I19M 18p11.32 C3N-01716 . . . . . . . . . 7.19 D D P P D N M T N 0.536 T T T 0.131 0.479 0.340 0.396 T T T T D D 2.770 23.000 0.994 D . 0.078 2.798 0.074 2.632 1.000 0.707 0.654 0.609 0.714 . 5.860 2.290 1.060 0.232 -0.273 1.000 0.997 0.971 748 . . . . METTL4 147 0 204 29 0.124463519313305 TRUE TRUE ENSG00000101680.15 . BCM GRCh38.p13 chr18 7011322 7011322 + G G A Missense_Mutation SNP ENST00000389658.4 exon25 c.C3665T p.P1222L exonic ENSG00000101680.15 . nonsynonymous SNV ENSG00000101680.15:ENST00000389658.4:exon25:c.C3665T:p.P1222L 18p11.31 C3N-01716 2.298e-05 0.0002 0 0 0 2.089e-05 0 0 rs762725918 17.20 D D D D D D H T D 0.738 D D D 0.600 0.838 0.943 0.533 T T D D D D 4.107 27.800 0.999 D D 0.839 9.602 0.752 8.857 1.000 0.732 0.574 0.744 0.564 . 5.870 5.870 9.120 1.172 0.660 1.000 0.781 0.371 839 Laminin_IV . . . LAMA1 356 0 624 342 0.354037267080745 TRUE NA ENSG00000125755.19 . BCM GRCh38.p13 chr19 45847929 45847929 + C C T Missense_Mutation SNP ENST00000245934.12 exon7 c.G499A p.D167N exonic ENSG00000125755.19 . nonsynonymous SNV ENSG00000125755.19:ENST00000245934.12:exon7:c.G499A:p.D167N 19q13.32 C3N-01716 . . . . . . . . . 6.19 T T B B D D L . N 0.582 T T T 0.147 0.266 0.129 0.636 T T T T D D 2.642 22.700 0.999 D D 0.304 3.801 0.449 4.724 1.000 0.707 0.702 0.725 0.714 . 5.500 5.500 7.241 1.012 0.583 1.000 0.999 0.988 779 Symplekin/Pta1,_N-terminal . . . SYMPK 142 0 173 55 0.241228070175439 TRUE TRUE ENSG00000170471.15 . BCM GRCh38.p13 chr20 38574248 38574248 + A A C Missense_Mutation SNP ENST00000262879.11 exon29 c.A4241C p.N1414T exonic ENSG00000170471.15 . nonsynonymous SNV ENSG00000170471.15:ENST00000262879.11:exon29:c.A4241C:p.N1414T 20q11.23 C3N-01716 . . . . . . . . . 10.20 D T B B D D L D N 0.374 D D D 0.344 0.550 0.220 0.446 T T T T D D 2.320 21.700 0.988 D N 0.002 2.517 0.213 3.245 0.541 0.732 0.744 0.744 0.728 . 6.020 6.020 4.400 1.312 0.756 1.000 0.994 0.992 928 . . . . RALGAPB 171 1 235 38 0.139194139194139 TRUE TRUE ENSG00000101180.16 . BCM GRCh38.p13 chr20 62216338 62216338 + G G A Missense_Mutation SNP ENST00000340177.10 exon3 c.C1006T p.R336C exonic ENSG00000101180.16 . nonsynonymous SNV ENSG00000101180.16:ENST00000340177.10:exon3:c.C1006T:p.R336C 20q13.33 C3N-01716 . . . . . . . . . 13.20 D D B B N D M T D 0.460 D D D 0.343 0.505 0.851 1.397 D D T T D D 3.490 24.700 0.999 D N 0.272 3.640 0.280 3.603 0.583 0.696 0.547 0.723 0.563 . 4.610 3.540 1.384 1.152 0.650 1.000 1.000 0.985 856 GPCR,_rhodopsin-like,_7TM . . ID=COSV100420461;OCCURENCE=1(endometrium) HRH3 116 0 199 33 0.142241379310345 TRUE TRUE ENSG00000099949.21 . BCM GRCh38.p13 chr22 20982516 20982516 + G G A Missense_Mutation SNP ENST00000646124.2 exon1 c.G145A p.E49K exonic ENSG00000099949.21 . nonsynonymous SNV ENSG00000099949.21:ENST00000646124.2:exon1:c.G145A:p.E49K 22q11.21 C3N-01716 . . . . . . . . . 14.20 D D D D D D L T N 0.595 T T D 0.304 0.625 0.431 1.665 D T D D D D 4.709 32 0.999 D D 0.765 8.138 0.775 9.414 1.000 0.767 0.522 0.851 0.562 . 5.550 5.550 5.795 1.172 0.672 1.000 1.000 0.998 934 . . . . LZTR1 390 1 798 149 0.157338965153115 TRUE NA ENSG00000185448.10 . BCM GRCh38.p13 chrX 34131290 34131290 + G G A Missense_Mutation SNP ENST00000346193.4 exon1 c.C989T p.P330L exonic ENSG00000185448.10 . nonsynonymous SNV ENSG00000185448.10:ENST00000346193.4:exon1:c.C989T:p.P330L Xp21.1 C3N-01716 . . . . . . . . . 5.18 D D D D . N L T D 0.072 T T T 0.081 0.202 0.043 0.775 T T T T T T 1.520 15.870 0.910 N . . . . . 0.000 . . . . . 0.226 -0.452 -0.708 -2.491 -1.500 0.001 0.000 0.000 937 . . . ID=COSV60500739;OCCURENCE=1(endometrium) FAM47A 180 1 195 74 0.275092936802974 TRUE TRUE ENSG00000147050.15 . BCM GRCh38.p13 chrX 45082585 45082585 + - NA A Frame_Shift_Ins NA ENST00000377967.8 exon21 c.3155dupA p.R1054Kfs*5 exonic ENSG00000147050.15 . frameshift insertion ENSG00000147050.15:ENST00000377967.8:exon21:c.3155dupA:p.R1054Kfs*5 Xp11.3 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM6A NA NA NA NA NA NA NA ENSG00000196208.14 . BCM GRCh38.p13 chr2 11640364 11640364 + C C T Silent SNP ENST00000381486.7 exon33 c.C5760T p.D1920D exonic ENSG00000196208.14 . synonymous SNV ENSG00000196208.14:ENST00000381486.7:exon33:c.C5760T:p.D1920D 2p25.1 C3N-01716 8.29e-06 0 0 0.0001 0 0 0 0 rs780513457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52191810;OCCURENCE=1(large_intestine),1(central_nervous_system) GREB1 230 0 488 88 0.152777777777778 TRUE TRUE ENSG00000175497.17 . BCM GRCh38.p13 chr2 115499583 115499583 + A A G Silent SNP ENST00000410059.6 exon4 c.A345G p.L115L exonic ENSG00000175497.17 . synonymous SNV ENSG00000175497.17:ENST00000410059.6:exon4:c.A345G:p.L115L 2q14.1 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPP10 187 0 131 17 0.114864864864865 TRUE NA ENSG00000182568.17 . BCM GRCh38.p13 chr3 18420788 18420788 + C C T Silent SNP ENST00000338745.11 exon2 c.G180A p.S60S exonic ENSG00000182568.17 . synonymous SNV ENSG00000182568.17:ENST00000338745.11:exon2:c.G180A:p.S60S 3p24.3 C3N-01716 2.471e-05 0.0002 0 0 0 0 0 6.056e-05 rs138373358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SATB1 351 0 530 127 0.193302891933029 TRUE NA ENSG00000145642.12 . BCM GRCh38.p13 chr5 64695600 64695600 + G G A Silent SNP ENST00000389074.6 exon2 c.G285A p.T95T exonic ENSG00000145642.12 . synonymous SNV ENSG00000145642.12:ENST00000389074.6:exon2:c.G285A:p.T95T 5q12.3 C3N-01716 . . . . . . . . rs563854983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66619529;OCCURENCE=1(oesophagus),1(biliary_tract),1(skin) SHISAL2B 197 1 184 40 0.178571428571429 TRUE TRUE ENSG00000178764.8 . BCM GRCh38.p13 chr8 122952671 122952671 + C C T Silent SNP ENST00000314393.6 exon3 c.C1161T p.T387T exonic ENSG00000178764.8 . synonymous SNV ENSG00000178764.8:ENST00000314393.6:exon3:c.C1161T:p.T387T 8q24.13 C3N-01716 8.245e-06 0 0 0 0 1.5e-05 0 0 rs530836451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZHX2 421 0 679 126 0.156521739130435 TRUE NA ENSG00000107282.8 . BCM GRCh38.p13 chr9 69517130 69517130 + G G A Silent SNP ENST00000265381.7 exon2 c.C81T p.A27A exonic ENSG00000107282.8 . synonymous SNV ENSG00000107282.8:ENST00000265381.7:exon2:c.C81T:p.A27A 9q21.12 C3N-01716 . . . . . . . . rs902513997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55237360;OCCURENCE=1(skin) APBA1 70 0 193 110 0.363036303630363 TRUE TRUE ENSG00000148400.12 . BCM GRCh38.p13 chr9 136508900 136508900 + G G A Silent SNP ENST00000651671.1 exon19 c.C3141T p.C1047C exonic ENSG00000148400.12 . synonymous SNV ENSG00000148400.12:ENST00000651671.1:exon19:c.C3141T:p.C1047C 9q34.3 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOTCH1 146 0 222 127 0.363896848137536 TRUE NA ENSG00000188162.11 . BCM GRCh38.p13 chr11 17557247 17557247 + A A G Silent SNP ENST00000399391.7 exon7 c.A825G p.P275P exonic ENSG00000188162.11 . synonymous SNV ENSG00000188162.11:ENST00000399391.7:exon7:c.A825G:p.P275P 11p15.1 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OTOG 363 0 624 154 0.197943444730077 TRUE TRUE ENSG00000101574.15 . BCM GRCh38.p13 chr18 2566839 2566839 + G G T Silent SNP ENST00000574538.2 exon2 c.C378A p.S126S exonic ENSG00000101574.15 . synonymous SNV ENSG00000101574.15:ENST00000574538.2:exon2:c.C378A:p.S126S 18p11.32 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . METTL4 83 1 107 13 0.108333333333333 TRUE TRUE ENSG00000142279.13 . BCM GRCh38.p13 chr19 34482436 34482436 + C C G Silent SNP ENST00000590071.7 exon1 c.C462G p.G154G exonic ENSG00000142279.13 . synonymous SNV ENSG00000142279.13:ENST00000590071.7:exon1:c.C462G:p.G154G 19q13.11 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WTIP 79 0 189 53 0.21900826446281 TRUE TRUE ENSG00000171587.15 . BCM GRCh38.p13 chr21 40124297 40124297 + C C T Silent SNP ENST00000400454.6 exon20 c.G3594A p.A1198A exonic ENSG00000171587.15 . synonymous SNV ENSG00000171587.15:ENST00000400454.6:exon20:c.G3594A:p.A1198A 21q22.2 C3N-01716 0.0001 0 0 0.0015 0 0 0 6.056e-05 rs745904747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68027549;OCCURENCE=1(stomach) DSCAM 225 0 344 66 0.160975609756098 TRUE TRUE ENSG00000160216.21 . BCM GRCh38.p13 chr21 43969165 43969165 + C C T Silent SNP ENST00000291572.13 exon5 c.C396T p.I132I exonic ENSG00000160216.21 . synonymous SNV ENSG00000160216.21:ENST00000291572.13:exon5:c.C396T:p.I132I 21q22.3 C3N-01716 4.945e-05 0 0.0004 0 0 1.499e-05 0 0 rs777102711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGPAT3 230 0 409 90 0.180360721442886 TRUE NA ENSG00000112855.17 . BCM GRCh38.p13 chr5 140693570 140693570 + T T A Intron SNP NA NA NA NA intronic ENSG00000112855.17 . . . 5q31.3 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HARS2 493 0 732 138 0.158620689655172 TRUE NA ENSG00000197343.11 . BCM GRCh38.p13 chr7 99563889 99563889 + C C T Intron SNP NA NA NA NA intronic ENSG00000197343.11;ENSG00000272647.3 . . . 7q22.1 C3N-01716 1.659e-05 0 8.693e-05 0 0 0 0 6.067e-05 rs776026660 9.16 D D D D . D . T D 0.585 T T T 0.080 0.306 0.482 . . . T T T D 2.216 21.000 0.999 D D 0.441 4.610 0.436 4.626 1.000 0.719 0.723 0.698 0.636 . 4.140 4.140 1.885 1.026 0.599 1.000 1.000 0.997 281 . . . . ZNF655 336 0 481 110 0.186125211505922 TRUE NA ENSG00000101158.15 . BCM GRCh38.p13 chr20 58989739 58989739 + C C T Intron SNP NA NA NA NA intronic ENSG00000101158.15 . . . 20q13.32 C3N-01716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NELFCD 203 0 288 54 0.157894736842105 TRUE NA ENSG00000169991.11 . BCM GRCh38.p13 chr1 18921098 18921098 + C C T Missense_Mutation SNP ENST00000455833.7 exon2 c.G689A p.R230H exonic ENSG00000169991.11 . nonsynonymous SNV ENSG00000169991.11:ENST00000455833.7:exon2:c.G689A:p.R230H 1p36.13 C3N-03839 . . . . . . . . rs979878869 14.20 D D P B D D M D D 0.565 D D D 0.681 . 0.958 1.748 T T T D D T 4.136 28.100 1.000 D D 0.519 5.190 0.568 5.844 1.000 0.672 0.654 0.659 0.711 . 4.840 4.840 7.011 1.026 0.599 1.000 0.996 0.995 940 Intermediate_filament,_rod_domain . . ID=COSV69085783;OCCURENCE=1(stomach) IFFO2 376 1 539 96 0.151181102362205 TRUE TRUE ENSG00000133216.16 . BCM GRCh38.p13 chr1 22785052 22785052 + G G A Missense_Mutation SNP ENST00000400191.7 exon3 c.G787A p.V263I exonic ENSG00000133216.16 . nonsynonymous SNV ENSG00000133216.16:ENST00000400191.7:exon3:c.G787A:p.V263I 1p36.12 C3N-03839 8.386e-05 0 0 0 0 7.676e-05 0 0.0003 rs150803261 5.20 T T P B D D M T N 0.332 T T D 0.139 . 0.686 0.475 T T T T T T 2.063 19.740 0.983 D N -0.026 2.419 0.056 2.561 0.985 0.707 0.588 0.725 0.714 . 5.120 4.210 4.510 0.227 -0.161 1.000 0.997 0.953 473 Tyrosine-protein_kinase_ephrin_type_A/B_receptor-like . . . EPHB2 288 1 450 87 0.162011173184358 TRUE NA ENSG00000116525.14 . BCM GRCh38.p13 chr1 33147391 33147391 + G G A Missense_Mutation SNP ENST00000291416.10 exon5 c.C1214T p.T405M exonic ENSG00000116525.14 . nonsynonymous SNV ENSG00000116525.14:ENST00000291416.10:exon5:c.C1214T:p.T405M 1p35.1 C3N-03839 . . . . . . . . . 15.20 D D D D D D M T D 0.683 D D D 0.608 0.531 0.900 1.790 T T T T D D 4.076 27.600 0.999 D D 0.780 8.404 0.721 8.167 1.000 0.615 0.577 0.659 0.636 . 5.680 4.760 8.138 1.157 0.595 1.000 0.994 0.988 470 0.000 . . ID=COSV52221226;OCCURENCE=1(stomach) TRIM62 464 0 662 126 0.15989847715736 TRUE TRUE ENSG00000163867.17 . BCM GRCh38.p13 chr1 35010518 35010518 + T T C Missense_Mutation SNP ENST00000357182.9 exon10 c.A1421G p.Y474C exonic ENSG00000163867.17;ENSG00000271741.1 . nonsynonymous SNV ENSG00000163867.17:ENST00000357182.9:exon10:c.A1421G:p.Y474C,ENSG00000271741.1:ENST00000487874.1:exon10:c.A1421G:p.Y474C 1p34.3 C3N-03839 . . . . . . . . . 10.20 D T D D N D M T D 0.802 T T T 0.293 0.660 0.153 0.896 T T T T D D 4.183 28.500 0.998 D D 0.703 7.165 0.669 7.216 1.000 0.707 0.725 0.609 0.636 . 5.030 5.030 5.466 1.124 0.665 1.000 1.000 0.999 907 Zinc_finger,_MYM-type;TRASH_domain . . . ZMYM6 236 0 361 49 0.119512195121951 TRUE TRUE ENSG00000157131.11 . BCM GRCh38.p13 chr1 56917712 56917712 + G G T Missense_Mutation SNP ENST00000361249.4 exon11 c.G1751T p.C584F exonic ENSG00000157131.11 . nonsynonymous SNV ENSG00000157131.11:ENST00000361249.4:exon11:c.G1751T:p.C584F 1p32.2 C3N-03839 . . . . . . . . . 17.20 D D D D D D H D D 0.892 D D D 0.819 0.727 0.901 0.287 T T D D D T 3.599 25.000 0.992 D D 0.860 10.058 0.678 7.364 0.999 0.487 0.574 0.547 0.564 . 4.820 4.820 6.364 1.176 0.676 1.000 0.249 0.126 871 . . . . C8A 358 0 490 81 0.141856392294221 TRUE TRUE ENSG00000143520.6 . BCM GRCh38.p13 chr1 152356258 152356258 + A A G Missense_Mutation SNP ENST00000388718.5 exon3 c.T1528C p.S510P exonic ENSG00000143520.6 . nonsynonymous SNV ENSG00000143520.6:ENST00000388718.5:exon3:c.T1528C:p.S510P 1q21.3 C3N-03839 . . . . . . . . . 4.19 T D D P . N M T D 0.081 T T T 0.037 0.282 0.292 0.029 T T T T T T 1.826 17.920 0.814 N N -0.257 1.722 -0.496 1.208 0.001 0.487 0.574 0.574 0.564 . 4.380 1.930 0.221 0.232 0.632 0.000 0.000 0.003 565 . . . . FLG2 494 0 635 113 0.151069518716578 TRUE TRUE ENSG00000162779.22 . BCM GRCh38.p13 chr1 179411220 179411220 + C C T Missense_Mutation SNP ENST00000367618.8 exon12 c.C1184T p.A395V exonic ENSG00000162779.22 . nonsynonymous SNV ENSG00000162779.22:ENST00000367618.8:exon12:c.C1184T:p.A395V 1q25.2 C3N-03839 . . . . . . . . . 1.20 T T B B N N M T N 0.228 T T T 0.024 0.158 0.264 0.027 T T T T T T 1.475 15.580 0.971 N N -0.597 0.993 -0.611 1.029 0.000 0.554 0.588 0.547 0.564 . 5.180 1.870 0.028 0.929 0.549 0.000 0.968 0.906 545 . . . . AXDND1 265 0 352 62 0.14975845410628 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-03839 . . . . . . . . . 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 146 0 172 32 0.156862745098039 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178776609 178776609 + C C T Missense_Mutation SNP ENST00000591111.5 exon28 c.G5255A p.R1752H exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon28:c.G5255A:p.R1752H 2q31.2 C3N-03839 0.0002 0 0.0018 0 0 4.499e-05 0 6.058e-05 rs150737838 10.17 D D D D . D . T D 0.713 T T D 0.521 . 0.397 0.516 T . T T T D 3.254 24.000 0.967 D D 0.611 6.040 0.608 6.326 1.000 0.487 0.545 0.574 0.542 . 5.050 5.050 4.941 0.071 -0.189 1.000 0.985 0.979 345 Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV59901601;OCCURENCE=1(breast),1(pancreas) TTN 262 0 295 55 0.157142857142857 TRUE TRUE ENSG00000115677.17 . BCM GRCh38.p13 chr2 241235491 241235491 + T T A Missense_Mutation SNP ENST00000391975.5 exon22 c.A3008T p.E1003V exonic ENSG00000115677.17 . nonsynonymous SNV ENSG00000115677.17:ENST00000391975.5:exon22:c.A3008T:p.E1003V 2q37.3 C3N-03839 . . . . . . . . . 12.16 D D . . D D . T D 0.904 T T D 0.491 0.749 0.290 0.956 T . D D D D 6.441 36 0.992 D D 0.759 8.028 0.717 8.093 1.000 0.722 0.702 0.702 0.735 . 5.790 5.790 7.953 1.138 0.665 1.000 0.989 0.972 994 K_Homology_domain,_type_1;K_Homology_domain . . . HDLBP 79 0 120 35 0.225806451612903 TRUE TRUE ENSG00000168036.18 . BCM GRCh38.p13 chr3 41225374 41225374 + C C A Missense_Mutation SNP ENST00000349496.11 exon5 c.C536A p.S179Y exonic ENSG00000168036.18 . nonsynonymous SNV ENSG00000168036.18:ENST00000349496.11:exon5:c.C536A:p.S179Y 3p22.1 C3N-03839 . . . . . . . . rs77624106 17.20 D D D D D D M T D 0.911 T T D 0.692 0.486 0.949 2.551 D D D D D D 3.909 26.400 0.995 D D 0.903 11.140 0.882 12.996 1.000 0.722 0.725 0.699 0.711 . 5.700 5.700 7.905 1.026 0.597 1.000 1.000 1.000 679 . . . . CTNNB1 408 0 363 105 0.224358974358974 TRUE NA ENSG00000008300.17 . BCM GRCh38.p13 chr3 48650906 48650906 + G G T Missense_Mutation SNP ENST00000164024.5 exon15 c.C6356A p.A2119D exonic ENSG00000008300.17 . nonsynonymous SNV ENSG00000008300.17:ENST00000164024.5:exon15:c.C6356A:p.A2119D 3p21.31 C3N-03839 . . . . . . . . . 2.19 T T B B . D L T N 0.490 T T T 0.122 0.696 0.471 0.517 T T T T T T 2.394 22.100 0.975 D N -0.109 2.148 0.029 2.462 0.997 0.696 0.547 0.723 0.563 . 5.050 4.170 3.151 1.176 0.676 1.000 1.000 0.998 4 GPCR,_family_2,_extracellular_hormone_receptor_domain;Laminin_EGF_domain . . . CELSR3 243 0 279 89 0.241847826086957 TRUE TRUE ENSG00000158258.16 . BCM GRCh38.p13 chr3 140466669 140466669 + C C T Missense_Mutation SNP ENST00000458420.7 exon8 c.C1282T p.R428W exonic ENSG00000158258.16 . nonsynonymous SNV ENSG00000158258.16:ENST00000458420.7:exon8:c.C1282T:p.R428W 3q23 C3N-03839 8.242e-06 0 0 0 0 1.499e-05 0 0 rs765719211 15.20 T T D D D D M T D 0.965 T T D 0.562 0.685 0.818 0.431 D D D D D D 3.321 24.200 0.994 D D 0.315 3.860 0.269 3.540 0.995 0.554 0.590 0.618 0.564 . 5.200 2.220 1.307 1.026 0.599 1.000 1.000 0.999 882 . . . ID=COSV71720759;OCCURENCE=2(large_intestine) CLSTN2 379 0 577 89 0.133633633633634 TRUE TRUE ENSG00000152580.8 . BCM GRCh38.p13 chr3 151453575 151453575 + G G T Missense_Mutation SNP ENST00000282466.3 exon3 c.C524A p.S175Y exonic ENSG00000152580.8 . nonsynonymous SNV ENSG00000152580.8:ENST00000282466.3:exon3:c.C524A:p.S175Y 3q25.1 C3N-03839 . . . . . . . . . 12.20 D D D D D D M T D 0.623 T T D 0.393 0.541 0.861 0.195 T T T T D T 3.877 26.200 0.995 D D 0.909 11.286 0.857 12.046 1.000 0.554 0.590 0.602 0.542 . 5.150 5.150 9.602 1.176 0.676 1.000 0.994 0.987 813 . . . . IGSF10 186 0 213 55 0.205223880597015 TRUE TRUE ENSG00000088926.14 . BCM GRCh38.p13 chr4 186274274 186274274 + C C T Missense_Mutation SNP ENST00000403665.7 exon5 c.C484T p.R162C exonic ENSG00000088926.14 . nonsynonymous SNV ENSG00000088926.14:ENST00000403665.7:exon5:c.C484T:p.R162C 4q35.2 C3N-03839 1.649e-05 0 8.648e-05 0 0 1.499e-05 0 0 rs748139184 18.20 D D D P D D M D D 0.434 D D D 0.783 0.928 0.976 0.154 T D D D D D 4.339 29.900 0.999 D D 0.684 6.900 0.641 6.784 1.000 0.554 0.574 0.618 0.564 . 5.760 5.760 2.620 1.026 0.599 1.000 0.697 0.720 582 Apple_domain;PAN/Apple_domain . . . F11 470 0 590 104 0.14985590778098 TRUE NA ENSG00000164509.15 . BCM GRCh38.p13 chr5 55916821 55916821 + G G A Missense_Mutation SNP ENST00000652347.1 exon15 c.G1996A p.G666R exonic ENSG00000164509.15 . nonsynonymous SNV ENSG00000164509.15:ENST00000652347.1:exon15:c.G1996A:p.G666R 5q11.2 C3N-03839 8.239e-06 0 0 0 0 0 0 6.056e-05 rs765709220 8.18 D D D D N D . T D 0.349 T T T 0.220 0.227 0.710 0.536 T . T T D T 3.598 25.000 0.999 D N 0.647 6.444 0.636 6.711 1.000 0.615 0.547 0.547 0.655 . 5.650 5.650 3.333 1.176 0.676 1.000 0.839 0.956 907 . . . . IL31RA 520 0 752 120 0.137614678899083 TRUE TRUE ENSG00000151292.17 . BCM GRCh38.p13 chr5 123614379 123614379 + A A C Missense_Mutation SNP ENST00000361991.6 exon12 c.A1327C p.I443L exonic ENSG00000151292.17 . nonsynonymous SNV ENSG00000151292.17:ENST00000361991.6:exon12:c.A1327C:p.I443L 5q23.2 C3N-03839 . . . . . . . . . 5.20 T T B B D D N T N 0.279 T T T 0.094 0.145 0.182 . T T T T D D 1.369 14.870 0.923 D N -0.312 1.584 -0.101 2.044 1.000 0.745 0.732 0.710 0.714 . 4.950 4.950 2.113 1.312 0.756 0.981 1.000 0.997 931 . . . . CSNK1G3 139 0 191 26 0.119815668202765 TRUE TRUE ENSG00000152377.14 . BCM GRCh38.p13 chr5 137498518 137498518 + C C A Missense_Mutation SNP ENST00000394945.6 exon2 c.G41T p.W14L exonic ENSG00000152377.14 . nonsynonymous SNV ENSG00000152377.14:ENST00000394945.6:exon2:c.G41T:p.W14L 5q31.2 C3N-03839 . . . . . . . . . 7.20 T D P P N N L T D 0.596 T T D 0.199 0.550 0.364 1.110 D T T T D T 3.334 24.200 0.982 D D 0.223 3.405 0.182 3.098 1.000 0.685 0.590 0.674 0.562 . 3.510 3.510 4.357 0.929 0.596 1.000 0.997 0.860 45 . . . . SPOCK1 179 0 277 50 0.152905198776758 TRUE TRUE ENSG00000182700.5 . BCM GRCh38.p13 chr5 140128568 140128585 + AATCACCATGTGGAAACC AATCACCATGTGGAAACC - In_Frame_Del DEL ENST00000333305.5 exon1 c.92_109del p.S32_Q37del exonic ENSG00000182700.5 . nonframeshift deletion ENSG00000182700.5:ENST00000333305.5:exon1:c.92_109del:p.S32_Q37del 5q31.3 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGIP 327 0 449 57 0.112648221343874 TRUE TRUE ENSG00000011083.9 . BCM GRCh38.p13 chr5 150196744 150196744 + G G A Missense_Mutation SNP ENST00000230671.7 exon3 c.G246A p.M82I exonic ENSG00000011083.9 . nonsynonymous SNV ENSG00000011083.9:ENST00000230671.7:exon3:c.G246A:p.M82I 5q32 C3N-03839 . . . . . . . . . 13.20 D D P P D D M T D 0.885 D T D 0.617 0.556 0.859 0.626 D T T T D D 3.536 24.800 0.998 D D 0.563 5.568 0.566 5.826 0.997 0.516 0.610 0.547 0.542 . 5.320 4.440 6.911 0.190 0.676 1.000 0.989 0.998 779 . . . . SLC6A7 195 0 365 83 0.185267857142857 TRUE NA ENSG00000232040.4 . BCM GRCh38.p13 chr6 28572094 28572094 + T T G Missense_Mutation SNP ENST00000452236.3 exon4 c.A3795C p.L1265F exonic ENSG00000232040.4 . nonsynonymous SNV ENSG00000232040.4:ENST00000452236.3:exon4:c.A3795C:p.L1265F 6p22.1 C3N-03839 8.252e-06 0 0 0 0 1.5e-05 0 0 rs757920531 4.20 D D P P U N M T N 0.348 T T T 0.145 0.444 0.471 1.159 T T T T D T 2.645 22.700 0.998 N N 0.186 3.244 0.034 2.481 0.393 0.615 0.588 0.659 0.542 . 2.530 1.360 0.758 0.970 0.665 1.000 0.983 0.869 680 . . . . ZBED9 357 0 390 102 0.207317073170732 TRUE NA ENSG00000204290.10 . BCM GRCh38.p13 chr6 32394807 32394807 + C C T Missense_Mutation SNP ENST00000374993.4 exon6 c.G1297A p.V433I exonic ENSG00000204290.10 . nonsynonymous SNV ENSG00000204290.10:ENST00000374993.4:exon6:c.G1297A:p.V433I 6p21.32 C3N-03839 8.238e-06 0 0 0 0 1.499e-05 0 0 rs376819015 2.19 D T P P D N L T N 0.177 T T T 0.168 . 0.136 0.542 T T T T T . 2.107 20.200 0.988 N N -0.534 1.110 -0.635 0.994 1.000 0.428 0.547 0.547 0.646 . 4.930 4.070 -0.078 0.952 0.537 0.008 0.165 0.048 934 . . . ID=COSV66630366;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) BTNL2 154 0 466 52 0.1003861003861 TRUE TRUE ENSG00000187189.11 . BCM GRCh38.p13 chr6 116253921 116253921 + G G A Nonsense_Mutation SNP ENST00000420283.3 exon1 c.C88T p.R30X exonic ENSG00000187189.11 . stopgain ENSG00000187189.11:ENST00000420283.3:exon1:c.C88T:p.R30X 6q22.1 C3N-03839 . . . . . . . . rs75652959 3.5 . . . . . D . . . 0.080 . . . . . . . . . D D . . 4.759 32 0.994 N N 0.039 2.651 -0.337 1.491 1.000 0.442 0.522 0.522 0.562 . 4.300 -0.947 -0.269 -0.236 -0.208 0.000 0.002 0.106 559 . . . . TSPYL4 102 0 117 24 0.170212765957447 TRUE TRUE ENSG00000197343.11 . BCM GRCh38.p13 chr7 99572707 99572707 + A A G Missense_Mutation SNP ENST00000252713.9 exon3 c.A599G p.N200S exonic ENSG00000197343.11 . nonsynonymous SNV ENSG00000197343.11:ENST00000252713.9:exon3:c.A599G:p.N200S 7q22.1 C3N-03839 . . . . . . . . . 0.20 T T B B N N N T N 0.028 T T T 0.016 0.214 0.014 0.138 T T T T T T -0.395 0.197 0.271 N N -1.314 0.157 -1.372 0.166 0.004 0.707 0.725 0.576 0.636 . 4.780 -4.670 -1.048 0.094 0.756 0.000 0.799 0.730 273 . . . . ZNF655 197 0 294 58 0.164772727272727 NA TRUE ENSG00000104320.14 . BCM GRCh38.p13 chr8 89958854 89958854 + C C A Missense_Mutation SNP ENST00000265433.8 exon9 c.G995T p.G332V exonic ENSG00000104320.14 . nonsynonymous SNV ENSG00000104320.14:ENST00000265433.8:exon9:c.G995T:p.G332V 8q21.3 C3N-03839 . . . . . . . . . 5.20 D T B B N D M T N 0.290 T T T 0.073 0.150 0.744 0.218 T T T T D T 2.767 23.000 0.976 D N -0.228 1.799 -0.198 1.791 0.989 0.732 0.725 0.744 0.714 . 5.850 2.010 0.671 -0.251 0.599 0.571 0.729 0.722 889 . . . . NBN 360 0 460 133 0.224283305227656 TRUE TRUE ENSG00000132549.18 . BCM GRCh38.p13 chr8 99861901 99861901 + G G A Missense_Mutation SNP ENST00000358544.6 exon58 c.G11245A p.E3749K exonic ENSG00000132549.18 . nonsynonymous SNV ENSG00000132549.18:ENST00000358544.6:exon58:c.G11245A:p.E3749K 8q22.2 C3N-03839 6.099e-05 0 0 0.0003 0 7.671e-05 0 0 rs180177372 11.20 D D D P D D L T N 0.643 T T D 0.452 . 0.795 0.396 T T D D T D 4.087 27.600 0.999 D D 0.740 7.720 0.770 9.297 1.000 0.706 0.710 0.616 0.492 . 5.790 5.790 7.333 1.176 0.676 1.000 0.968 0.954 458 . . . . VPS13B 284 0 350 139 0.284253578732106 TRUE NA ENSG00000164796.18 . BCM GRCh38.p13 chr8 112311130 112311130 + C C G Missense_Mutation SNP ENST00000297405.10 exon50 c.G7733C p.G2578A exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon50:c.G7733C:p.G2578A 8q23.3 C3N-03839 . . . . . . . . . 17.20 D T D D D D M T D 0.964 D D D 0.732 0.851 0.756 0.685 D T D D D D 4.207 28.700 0.998 D D 1.019 14.533 0.957 16.451 1.000 0.554 0.574 0.574 0.621 . 5.760 5.760 7.902 1.026 0.599 1.000 1.000 0.995 853 Sushi/SCR/CCP_domain . . . CSMD3 363 0 487 185 0.275297619047619 TRUE TRUE ENSG00000119121.22 . BCM GRCh38.p13 chr9 74840053 74840053 + G G A Missense_Mutation SNP ENST00000360774.6 exon5 c.C515T p.A172V exonic ENSG00000119121.22 . nonsynonymous SNV ENSG00000119121.22:ENST00000360774.6:exon5:c.C515T:p.A172V 9q21.13 C3N-03839 8.237e-06 0 8.637e-05 0 0 0 0 0 rs202053435 16.20 D D D D D D M T D 0.931 T T D 0.592 0.478 0.495 0.896 T D D D D D 3.663 25.300 0.999 D D 0.976 13.186 0.934 15.273 0.999 0.554 0.574 0.602 0.564 . 5.860 5.860 8.062 1.172 0.672 1.000 0.889 0.848 647 . . . ID=COSV62506882;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) TRPM6 439 0 566 128 0.184438040345821 TRUE TRUE ENSG00000165181.16 . BCM GRCh38.p13 chr9 111699974 111699974 + A A G Missense_Mutation SNP ENST00000374287.7 exon21 c.T2971C p.S991P exonic ENSG00000165181.16 . nonsynonymous SNV ENSG00000165181.16:ENST00000374287.7:exon21:c.T2971C:p.S991P 9q31.3 C3N-03839 . . . . . . . . . 3.15 T T . . N D . T N 0.268 T T T 0.034 0.294 0.291 0.198 . . T T D T 3.002 23.400 0.995 D N -0.141 2.048 0.015 2.410 0.358 0.487 0.574 0.574 0.613 . 6.080 3.630 2.246 1.288 0.756 1.000 0.970 0.954 364 . . . . SHOC1 198 0 272 33 0.108196721311475 TRUE TRUE ENSG00000050555.18 . BCM GRCh38.p13 chr9 131041729 131041729 + G G A Missense_Mutation SNP ENST00000361069.9 exon7 c.G1376A p.C459Y exonic ENSG00000050555.18 . nonsynonymous SNV ENSG00000050555.18:ENST00000361069.9:exon7:c.G1376A:p.C459Y 9q34.12 C3N-03839 . . . . . . . . . 18.20 D D D D D D H D D 0.993 D D D 0.974 0.875 0.968 0.842 T T D D D D 4.062 27.400 0.998 D D 1.021 14.605 0.882 13.020 1.000 0.706 0.547 0.710 0.639 . 4.970 4.970 9.877 1.175 0.676 1.000 0.923 0.280 427 Laminin_EGF_domain . . . LAMC3 716 1 966 179 0.156331877729258 TRUE TRUE ENSG00000197859.11 . BCM GRCh38.p13 chr9 133570400 133570400 + C C T Missense_Mutation SNP ENST00000651351.2 exon17 c.C2485T p.P829S exonic ENSG00000197859.11 . nonsynonymous SNV ENSG00000197859.11:ENST00000651351.2:exon17:c.C2485T:p.P829S 9q34.2 C3N-03839 . . . . . . . . . 2.20 T T B B U N N T N 0.178 T T T 0.018 0.260 0.606 0.526 T T T T D T 2.379 22.000 0.978 D N -0.488 1.201 -0.319 1.526 0.005 0.554 0.588 0.604 0.613 . 3.800 2.860 2.850 1.026 0.599 1.000 0.983 0.951 778 . . . . ADAMTSL2 409 0 551 106 0.161339421613394 TRUE TRUE ENSG00000177354.12 . BCM GRCh38.p13 chr10 49326726 49326726 + C C T Missense_Mutation SNP ENST00000374144.8 exon3 c.C4181T p.P1394L exonic ENSG00000177354.12 . nonsynonymous SNV ENSG00000177354.12:ENST00000374144.8:exon3:c.C4181T:p.P1394L 10q11.23 C3N-03839 . . . . . . . . rs565274702 0.15 T T . . U N . T N 0.051 T T T 0.017 0.215 0.076 0.237 . . T T T T -0.881 0.016 0.708 N N -1.354 0.137 -1.486 0.113 0.969 0.487 0.590 0.547 0.564 . 5.320 -5.690 -0.641 -1.042 -2.505 0.000 0.000 0.002 894 . . . ID=COSV60510894;OCCURENCE=1(large_intestine) C10orf71 411 0 607 115 0.159279778393352 TRUE TRUE ENSG00000185933.7 . BCM GRCh38.p13 chr10 103458211 103458211 + G G A Missense_Mutation SNP ENST00000329905.6 exon1 c.C541T p.R181C exonic ENSG00000185933.7 . nonsynonymous SNV ENSG00000185933.7:ENST00000329905.6:exon1:c.C541T:p.R181C 10q24.33 C3N-03839 8.494e-06 0 8.723e-05 0 0 0 0 0 rs769331766 11.20 D D D P N D M T D 0.657 T T D 0.351 0.648 0.300 0.690 T T T T D D 4.413 31 0.999 D D 0.739 7.694 0.721 8.157 1.000 0.554 0.588 0.578 0.563 . 5.490 5.490 7.094 1.097 0.586 1.000 0.998 0.984 267 . . . . CALHM1 384 0 510 88 0.147157190635452 TRUE NA ENSG00000006071.15 . BCM GRCh38.p13 chr11 17461735 17461735 + G G T Missense_Mutation SNP ENST00000389817.8 exon5 c.C670A p.L224M exonic ENSG00000006071.15 . nonsynonymous SNV ENSG00000006071.15:ENST00000389817.8:exon5:c.C670A:p.L224M 11p15.1 C3N-03839 . . . . . . . . . 19.20 D D D D D D M D N 0.687 D D D 0.769 0.527 0.951 0.888 D D D D D D 3.209 23.900 0.997 D D 0.532 5.291 0.463 4.843 1.000 0.554 0.590 0.602 0.542 . 5.600 3.730 1.233 0.224 0.676 1.000 0.998 0.998 739 . . . . ABCC8 571 0 775 170 0.17989417989418 TRUE TRUE ENSG00000110076.19 . BCM GRCh38.p13 chr11 64685669 64685669 + G G A Missense_Mutation SNP ENST00000265459.11 exon6 c.C1129T p.R377W exonic ENSG00000110076.19 . nonsynonymous SNV ENSG00000110076.19:ENST00000265459.11:exon6:c.C1129T:p.R377W 11q13.1 C3N-03839 . . . . . . . . . 18.20 D D D D U D M T D 0.732 D D D 0.701 0.556 0.955 1.106 D D D D D D 4.010 27.000 0.999 D D 0.381 4.230 0.292 3.669 0.990 0.615 0.610 0.659 0.542 . 4.000 3.060 1.705 1.176 0.618 0.983 1.000 0.997 382 Laminin_G_domain . . ID=COSV55454599;OCCURENCE=1(liver),1(large_intestine) NRXN2 698 0 874 167 0.160422670509126 TRUE TRUE ENSG00000077616.11 . BCM GRCh38.p13 chr11 90152384 90152384 + T T A Nonsense_Mutation SNP ENST00000534061.6 exon6 c.T696A p.Y232X exonic ENSG00000077616.11 . stopgain ENSG00000077616.11:ENST00000534061.6:exon6:c.T696A:p.Y232X 11q14.3 C3N-03839 . . . . . . . . . 5.6 . . . . D A . . . 0.570 . . . . . . . . . D D . . 6.255 35 0.996 D N 0.626 6.204 0.397 4.340 0.000 0.693 0.574 0.659 0.621 . 5.220 0.166 0.220 0.200 0.660 0.990 0.996 0.998 915 PA_domain . . . NAALAD2 97 0 174 25 0.125628140703518 TRUE TRUE ENSG00000137674.4 . BCM GRCh38.p13 chr11 102593540 102593540 + A A C Missense_Mutation SNP ENST00000260228.3 exon8 c.T1146G p.I382M exonic ENSG00000137674.4 . nonsynonymous SNV ENSG00000137674.4:ENST00000260228.3:exon8:c.T1146G:p.I382M 11q22.2 C3N-03839 . . . . . . . . . 10.20 D D D D D D M T D 0.552 T T T 0.325 0.738 0.614 0.266 T T T T D T 3.167 23.800 0.996 D N 0.211 3.351 0.082 2.661 0.982 0.554 0.588 0.547 0.584 . 5.060 1.440 0.593 0.307 -0.089 1.000 0.982 0.840 778 Hemopexin-like_domain . . . MMP20 291 0 402 77 0.160751565762004 TRUE TRUE ENSG00000154134.15 . BCM GRCh38.p13 chr11 124880445 124880445 + C C T Missense_Mutation SNP ENST00000397801.6 exon27 c.C3986T p.P1329L exonic ENSG00000154134.15 . nonsynonymous SNV ENSG00000154134.15:ENST00000397801.6:exon27:c.C3986T:p.P1329L 11q24.2 C3N-03839 . . . . . . . . . 11.20 D D B B N D M T D 0.385 T T D 0.136 0.288 0.798 0.474 T D T T D D 2.619 22.700 0.998 D D -0.029 2.408 0.063 2.588 1.000 0.675 0.590 0.693 0.696 . 5.620 4.710 3.672 1.026 0.599 0.986 0.436 0.327 712 . . . . ROBO3 337 0 484 97 0.166953528399312 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-03839 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 366 0 442 91 0.170731707317073 TRUE TRUE ENSG00000135503.13 . BCM GRCh38.p13 chr12 51986924 51986924 + C C T Nonsense_Mutation SNP ENST00000257963.9 exon7 c.C1243T p.R415X exonic ENSG00000135503.13 . stopgain ENSG00000135503.13:ENST00000257963.9:exon7:c.C1243T:p.R415X 12q13.13 C3N-03839 . . . . . . . . . 5.6 . . . . D D . . . 0.943 . . . . . . . . . D D . . 7.821 39 0.998 D N 0.809 8.967 0.672 7.264 1.000 0.732 0.610 0.744 0.714 . 4.770 4.770 2.613 1.026 0.597 0.981 0.994 0.995 628 Protein_kinase_domain . . . ACVR1B 623 0 645 152 0.190715181932246 TRUE TRUE ENSG00000198812.5 . BCM GRCh38.p13 chr12 69610715 69610715 + G G A Missense_Mutation SNP ENST00000361484.5 exon1 c.C124T p.R42C exonic ENSG00000198812.5 . nonsynonymous SNV ENSG00000198812.5:ENST00000361484.5:exon1:c.C124T:p.R42C 12q15 C3N-03839 8.302e-06 0 0 0 0 1.508e-05 0 0 rs768421373 11.20 D D B B D D M T D 0.247 T T D 0.123 0.456 0.427 0.292 T D T T D T 2.901 23.200 0.999 D D -0.079 2.242 0.004 2.374 0.997 0.487 0.574 0.547 0.542 . 5.620 4.710 2.418 0.224 0.676 0.998 0.407 0.250 799 . . . ID=COSV100825446;OCCURENCE=1(large_intestine) LRRC10 285 0 378 74 0.163716814159292 TRUE TRUE ENSG00000179104.9 . BCM GRCh38.p13 chr12 82896430 82896430 + G G A Missense_Mutation SNP ENST00000321196.8 exon3 c.G1267A p.V423I exonic ENSG00000179104.9 . nonsynonymous SNV ENSG00000179104.9:ENST00000321196.8:exon3:c.G1267A:p.V423I 12q21.31 C3N-03839 8.238e-06 0 0 0 0 1.499e-05 0 0 rs760933625 7.20 T T D P D D L T N 0.650 T T T 0.161 0.414 0.281 0.240 T T T T D D 2.911 23.200 0.999 D D 0.653 6.504 0.723 8.216 1.000 0.615 0.588 0.618 0.655 . 5.860 5.860 9.602 1.176 0.676 1.000 0.998 0.999 793 . . . ID=COSV58262981;OCCURENCE=1(large_intestine) TMTC2 277 0 347 62 0.15158924205379 TRUE TRUE ENSG00000135108.14 . BCM GRCh38.p13 chr12 117190392 117190392 + G G T Missense_Mutation SNP ENST00000330622.9 exon1 c.C65A p.P22Q exonic ENSG00000135108.14 . nonsynonymous SNV ENSG00000135108.14:ENST00000330622.9:exon1:c.C65A:p.P22Q 12q24.22 C3N-03839 . . . . . . . . . 3.20 D T P B N N N T N 0.203 T T D 0.067 0.264 0.348 0.436 T T T T T T 3.136 23.700 0.942 D N -0.125 2.098 -0.086 2.087 1.000 0.442 0.522 0.522 0.562 . 3.760 3.760 2.935 1.154 0.590 0.991 0.966 0.979 934 . . . . FBXO21 204 0 334 66 0.165 TRUE NA ENSG00000102595.20 . BCM GRCh38.p13 chr13 95970236 95970236 + C C T Missense_Mutation SNP ENST00000376747.8 exon12 c.G1211A p.G404E exonic ENSG00000102595.20 . nonsynonymous SNV ENSG00000102595.20:ENST00000376747.8:exon12:c.G1211A:p.G404E 13q32.1 C3N-03839 1.654e-05 0 0 0 0.0002 1.501e-05 0 0 rs780935476 8.20 D T B B D D M T D 0.720 T T T 0.114 0.598 0.511 0.386 T T T T D T 2.881 23.200 0.997 D D 0.163 3.145 0.294 3.684 0.983 0.615 0.588 0.618 0.655 . 5.450 5.450 4.127 1.026 0.599 1.000 1.000 0.999 940 . . . . UGGT2 187 0 209 39 0.157258064516129 TRUE NA ENSG00000070182.21 . BCM GRCh38.p13 chr14 64771032 64771032 + G G A Missense_Mutation SNP ENST00000389720.4 exon27 c.C5651T p.A1884V exonic ENSG00000070182.21 . nonsynonymous SNV ENSG00000070182.21:ENST00000389720.4:exon27:c.C5651T:p.A1884V 14q23.3 C3N-03839 0.0016 0.0004 0.0011 0 0.0009 0.0019 0.0022 0.0027 rs148337824 13.20 D D D D D D M T D 0.746 T T T 0.498 . 0.670 0.583 T D T D T D 2.364 21.900 0.996 D D -0.203 1.868 -0.323 1.518 1.000 0.701 0.549 0.717 0.542 . 5.140 4.240 5.851 -0.124 -0.104 1.000 0.112 0.012 448 . . . ID=COSV67632313;OCCURENCE=1(large_intestine) SPTB 545 1 694 157 0.18448883666275 TRUE TRUE ENSG00000133958.13 . BCM GRCh38.p13 chr14 93542515 93542515 + G G A Missense_Mutation SNP ENST00000393151.6 exon14 c.G1574A p.R525Q exonic ENSG00000133958.13 . nonsynonymous SNV ENSG00000133958.13:ENST00000393151.6:exon14:c.G1574A:p.R525Q 14q32.12 C3N-03839 1.66e-05 0 0 0 0 3.013e-05 0 0 rs200477456 9.17 D D . . D D L T D 0.821 T T T 0.301 . 0.219 2.295 T D T T D . 4.190 28.600 1.000 D D 0.672 6.742 0.692 7.609 1.000 0.554 0.574 0.602 0.613 . 5.810 4.920 9.705 1.176 0.676 1.000 0.997 0.991 851 . . . ID=COSV99825931;OCCURENCE=1(stomach),1(endometrium) UNC79 371 0 442 95 0.176908752327747 TRUE NA ENSG00000203485.13 . BCM GRCh38.p13 chr14 104711650 104711650 + G G A Missense_Mutation SNP ENST00000392634.9 exon16 c.G2440A p.D814N exonic ENSG00000203485.13 . nonsynonymous SNV ENSG00000203485.13:ENST00000392634.9:exon16:c.G2440A:p.D814N 14q32.33 C3N-03839 4.211e-05 0 0 0 0 6.127e-05 0 6.067e-05 rs373532334 13.20 D D D D D D M T D 0.281 T T D 0.287 . 0.459 0.241 T T T T D D 3.294 24.100 0.996 D D 0.588 5.803 0.466 4.860 1.000 0.706 0.710 0.723 0.714 . 4.170 4.170 5.232 1.176 0.618 1.000 0.798 0.191 957 Formin,_FH2_domain . . . INF2 271 0 407 74 0.153846153846154 TRUE NA ENSG00000179455.9 . BCM GRCh38.p13 chr15 23566319 23566319 + C C A Missense_Mutation SNP ENST00000314520.6 exon1 c.C537A p.F179L exonic ENSG00000179455.9 . nonsynonymous SNV ENSG00000179455.9:ENST00000314520.6:exon1:c.C537A:p.F179L 15q11.2 C3N-03839 . . . . . . . . . 0.20 T T B B N N L T N 0.101 T T T 0.080 0.276 0.370 0.076 T T T T T T 1.681 16.900 0.741 N N -0.945 0.465 -0.928 0.582 1.000 0.487 0.514 0.574 0.651 . 3.990 2.090 -0.015 0.937 0.596 0.000 0.979 0.065 994 . . . . MKRN3 303 0 379 50 0.116550116550117 TRUE TRUE ENSG00000206190.12 . BCM GRCh38.p13 chr15 25681035 25681035 + C C T Missense_Mutation SNP ENST00000555815.6 exon18 c.G3532A p.A1178T exonic ENSG00000206190.12 . nonsynonymous SNV ENSG00000206190.12:ENST00000555815.6:exon18:c.G3532A:p.A1178T 15q12 C3N-03839 3.295e-05 0 0 0.0002 0 1.498e-05 0 6.056e-05 rs764757185 16.20 D D D D D D M T D 0.849 D D D 0.639 0.670 0.680 0.177 T T T D D D 3.033 23.500 0.998 D D 0.521 5.204 0.357 4.069 1.000 0.615 0.574 0.659 0.564 . 4.840 4.840 7.651 1.026 0.599 1.000 0.005 0.005 625 P-type_ATPase,_C-terminal . . ID=COSV100790726;OCCURENCE=1(skin),1(endometrium) ATP10A 317 0 316 99 0.23855421686747 TRUE NA ENSG00000140543.14 . BCM GRCh38.p13 chr15 88513039 88513039 + A A C Missense_Mutation SNP ENST00000268148.12 exon5 c.T1565G p.F522C exonic ENSG00000140543.14;ENSG00000173867.10 . nonsynonymous SNV ENSG00000140543.14:ENST00000268148.12:exon5:c.T1565G:p.F522C,ENSG00000173867.10:ENST00000649547.1:exon6:c.T1565G:p.F522C 15q26.1 C3N-03839 . . . . . . . . . 16.19 D D D D D D M . D 0.911 T T D 0.593 0.927 0.412 1.084 D T D D D D 4.444 31 0.994 D D 0.785 8.497 0.757 8.971 1.000 0.653 0.634 0.659 0.669 . 6.170 5.050 9.070 1.312 0.756 1.000 1.000 1.000 904 . . . . DET1 252 0 427 130 0.233393177737882 TRUE TRUE ENSG00000140470.14 . BCM GRCh38.p13 chr15 99976135 99976135 + C C T Missense_Mutation SNP ENST00000268070.9 exon21 c.G3037A p.A1013T exonic ENSG00000140470.14 . nonsynonymous SNV ENSG00000140470.14:ENST00000268070.9:exon21:c.G3037A:p.A1013T 15q26.3 C3N-03839 . . . . . . . . . 0.20 T T B B N N L T N 0.107 T T T 0.078 0.680 0.331 0.090 T T T T T T -0.356 0.238 0.897 N N -1.137 0.275 -1.197 0.286 1.000 0.657 0.610 0.673 0.564 . 5.280 -4.710 -1.175 -1.306 -0.217 0.000 0.037 0.038 945 . . . . ADAMTS17 157 0 334 30 0.0824175824175824 TRUE NA ENSG00000131652.14 . BCM GRCh38.p13 chr16 3026772 3026772 + C C T Nonsense_Mutation SNP ENST00000326266.13 exon8 c.C577T p.R193X exonic ENSG00000131652.14 . stopgain ENSG00000131652.14:ENST00000326266.13:exon8:c.C577T:p.R193X 16p13.3 C3N-03839 . . . . . . . . . 5.6 . . . . D A . . . 0.429 . . . . . . . . . D D . . 6.555 36 0.997 D N 0.457 4.720 0.275 3.572 1.000 0.707 0.725 0.702 0.711 . 5.590 3.540 -0.256 1.026 0.599 0.668 0.746 0.568 721 WD40_repeat,_conserved_site;WD40-repeat-containing_domain . . . THOC6 130 0 206 37 0.152263374485597 TRUE NA ENSG00000078328.21 . BCM GRCh38.p13 chr16 7518352 7518352 + C C T Missense_Mutation SNP ENST00000550418.6 exon5 c.C233T p.A78V exonic ENSG00000078328.21 . nonsynonymous SNV ENSG00000078328.21:ENST00000550418.6:exon5:c.C233T:p.A78V 16p13.3 C3N-03839 . . . . . . . . . 6.20 D T P B N D L T N 0.532 T T T 0.025 0.347 0.189 0.006 T T T T D D 2.974 23.400 0.997 D D -0.123 2.102 -0.002 2.352 0.980 0.595 0.574 0.598 0.564 . 4.280 4.280 4.046 1.026 0.599 0.983 0.984 0.876 965 . . . ID=COSV60956442;OCCURENCE=1(cervix),3(large_intestine),1(pancreas) RBFOX1 75 0 126 11 0.0802919708029197 TRUE TRUE ENSG00000179588.9 . BCM GRCh38.p13 chr16 88533910 88533910 + C C T Missense_Mutation SNP ENST00000319555.8 exon10 c.C1952T p.A651V exonic ENSG00000179588.9 . nonsynonymous SNV ENSG00000179588.9:ENST00000319555.8:exon10:c.C1952T:p.A651V 16q24.2 C3N-03839 0.0012 0 0 0 . 0 0 0.0014 rs749486818 2.20 T T P B U N N T N 0.100 T T D 0.066 0.244 0.276 1.093 D T T T T T 1.526 15.900 0.994 N N -0.645 0.908 -0.702 0.897 1.000 0.601 0.597 0.240 0.555 . 3.010 0.664 -0.026 0.626 0.366 0.000 0.001 0.353 969 . . . . ZFPM1 106 0 165 67 0.288793103448276 TRUE NA ENSG00000063015.20 . BCM GRCh38.p13 chr17 29005865 29005865 + C C A Missense_Mutation SNP ENST00000317338.17 exon1 c.G5T p.R2L exonic ENSG00000063015.20 . nonsynonymous SNV ENSG00000063015.20:ENST00000317338.17:exon1:c.G5T:p.R2L 17q11.2 C3N-03839 0 0 0 0 . 0 0 0 rs531592765 4.19 D D B B . N N T N 0.260 T T D 0.035 0.327 0.257 0.330 D T T T T T 1.507 15.780 0.983 N N -0.475 1.225 -0.430 1.319 1.000 0.658 0.578 0.619 0.639 . 5.140 2.090 -0.534 -0.329 -0.292 0.019 0.790 0.589 294 . . . . SEZ6 348 1 494 100 0.168350168350168 TRUE NA ENSG00000206422.2 . BCM GRCh38.p13 chr18 7231919 7231919 + G G A Missense_Mutation SNP ENST00000383467.2 exon1 c.G781A p.A261T exonic ENSG00000206422.2 . nonsynonymous SNV ENSG00000206422.2:ENST00000383467.2:exon1:c.G781A:p.A261T 18p11.23 C3N-03839 . . . . . . . . . 10.20 D D D D D D L T N 0.831 T T T 0.205 0.402 0.205 0.379 T T T T D D 4.223 28.900 0.999 D D 0.672 6.742 0.631 6.629 1.000 0.487 0.574 0.574 0.564 . 5.700 5.700 9.597 1.176 0.676 1.000 0.954 0.789 955 . . . ID=COSV67301533;OCCURENCE=1(large_intestine),1(stomach),1(lung) LRRC30 293 0 279 59 0.174556213017751 TRUE TRUE ENSG00000064687.13 . BCM GRCh38.p13 chr19 1044725 1044725 + C C T Missense_Mutation SNP ENST00000263094.11 exon11 c.C1196T p.T399M exonic ENSG00000064687.13 . nonsynonymous SNV ENSG00000064687.13:ENST00000263094.11:exon11:c.C1196T:p.T399M 19p13.3 C3N-03839 . . . . . . . . . 3.19 T T P B . N M D N 0.096 T T D 0.156 0.432 0.773 0.112 T T T T T T 0.248 3.685 0.848 N N -0.969 0.438 -1.147 0.330 1.000 0.696 0.654 0.692 0.639 . 4.100 -4.160 -1.989 -1.132 -0.176 0.000 0.000 0.120 988 . . . . ABCA7 209 0 291 60 0.170940170940171 TRUE TRUE ENSG00000115266.11 . BCM GRCh38.p13 chr19 1470104 1470104 + C C T Missense_Mutation SNP ENST00000535453.5 exon14 c.C6803T p.A2268V exonic ENSG00000115266.11 . nonsynonymous SNV ENSG00000115266.11:ENST00000535453.5:exon14:c.C6803T:p.A2268V 19p13.3 C3N-03839 1.169e-05 0 0 0 0 2.139e-05 0 0 rs777883453 11.19 D D B B D D . D N 0.164 D D D 0.255 0.288 0.690 1.063 T T D T D T 2.056 19.680 0.999 D N -0.397 1.390 -0.328 1.508 1.000 0.598 0.541 0.607 0.639 . 4.050 3.010 1.690 0.871 0.509 0.984 0.027 0.965 958 . . . . APC2 178 0 260 64 0.197530864197531 TRUE NA ENSG00000167664.8 . BCM GRCh38.p13 chr19 4292604 4292604 + C C A Nonsense_Mutation SNP ENST00000301272.6 exon5 c.G844T p.E282X exonic ENSG00000167664.8 . stopgain ENSG00000167664.8:ENST00000301272.6:exon5:c.G844T:p.E282X 19p13.3 C3N-03839 . . . . . . . . . 2.5 . . . . . N . . . 0.067 . . . . . . . . . D D . . 6.614 36 0.966 N N 0.078 2.798 -0.356 1.454 0.000 0.554 0.590 0.602 0.542 . 2.050 0.993 0.076 -0.016 0.517 0.000 0.000 0.007 946 . . . . TMIGD2 215 0 317 43 0.119444444444444 TRUE TRUE ENSG00000130544.12 . BCM GRCh38.p13 chr19 7083589 7083589 + G G A Missense_Mutation SNP ENST00000414706.2 exon8 c.G1117A p.D373N exonic ENSG00000130544.12 . nonsynonymous SNV ENSG00000130544.12:ENST00000414706.2:exon8:c.G1117A:p.D373N 19p13.2 C3N-03839 . . . . . . . . . 1.19 T D B B . N L T N 0.120 T T T 0.046 0.539 0.194 0.358 T T T T T T 0.731 8.736 0.984 N N -1.477 0.088 -1.594 0.077 0.670 0.461 0.553 0.487 0.636 . 1.320 -2.630 -0.794 -0.604 -0.704 0.000 0.332 0.006 946 Zinc_finger_C2H2-type . . . ZNF557 242 0 377 56 0.12933025404157 TRUE TRUE ENSG00000142347.19 . BCM GRCh38.p13 chr19 8554679 8554679 + C C T Missense_Mutation SNP ENST00000644032.2 exon3 c.G206A p.R69H exonic ENSG00000142347.19 . nonsynonymous SNV ENSG00000142347.19:ENST00000644032.2:exon3:c.G206A:p.R69H 19p13.2 C3N-03839 5.798e-05 0 0.0003 0.0002 0.0002 0 0 6.056e-05 rs778366731 14.20 D D D D D D L D D 0.432 D D D 0.429 0.364 0.850 1.612 T D T T T D 3.405 24.400 1.000 D N 0.281 3.685 0.297 3.700 0.999 0.707 0.725 0.659 0.613 . 4.680 4.680 2.746 1.004 0.587 0.986 0.965 0.891 651 Class_I_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO1F 448 0 589 129 0.17966573816156 TRUE NA ENSG00000076662.10 . BCM GRCh38.p13 chr19 10333911 10333929 + GAGGGGCAGATAGGTGCTC GAGGGGCAGATAGGTGCTC - Frame_Shift_Del DEL ENST00000160262.10 exon7 c.1572_1590del p.S525Rfs*44 exonic ENSG00000076662.10 . frameshift deletion ENSG00000076662.10:ENST00000160262.10:exon7:c.1572_1590del:p.S525Rfs*44 19p13.2 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ICAM3 277 0 375 27 0.0671641791044776 TRUE TRUE ENSG00000198597.9 . BCM GRCh38.p13 chr19 30445532 30445532 + G G A Missense_Mutation SNP ENST00000355537.4 exon2 c.G1970A p.R657H exonic ENSG00000198597.9 . nonsynonymous SNV ENSG00000198597.9:ENST00000355537.4:exon2:c.G1970A:p.R657H 19q12 C3N-03839 . . . . . . . . . 11.20 D D D D D D L T D 0.667 T T T 0.373 0.418 0.527 1.866 T T T T D D 4.112 27.900 0.999 D D 0.654 6.517 0.687 7.510 1.000 0.487 0.574 0.578 0.613 . 5.420 5.420 7.709 1.175 0.676 1.000 0.998 0.890 771 Zinc_finger_C2H2-type . . ID=COSV62824617;OCCURENCE=1(breast),2(large_intestine) ZNF536 197 1 260 54 0.171974522292994 TRUE TRUE ENSG00000086548.9 . BCM GRCh38.p13 chr19 41762209 41762209 + T T C Missense_Mutation SNP ENST00000199764.7 exon4 c.T944C p.M315T exonic ENSG00000086548.9 . nonsynonymous SNV ENSG00000086548.9:ENST00000199764.7:exon4:c.T944C:p.M315T 19q13.2 C3N-03839 . . . . . . . . . 0.14 T T . . . N . T N 0.020 T T T 0.015 0.417 0.040 0.180 T . T T T . -1.201 0.002 0.166 N N -1.635 0.048 -1.657 0.060 0.000 0.497 0.590 0.547 0.542 . 2.150 -4.300 -1.357 -0.291 -1.257 0.000 0.015 0.006 573 . . . . CEACAM6 163 0 207 61 0.227611940298507 NA TRUE ENSG00000156261.13 . BCM GRCh38.p13 chr21 29062143 29062143 + - NA A Frame_Shift_Ins NA ENST00000286788.9 exon11 c.1196dupT p.K400Qfs*7 exonic ENSG00000156261.13 . frameshift insertion ENSG00000156261.13:ENST00000286788.9:exon11:c.1196dupT:p.K400Qfs*7 21q21.3 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCT8 NA NA NA NA NA NA NA ENSG00000100346.18 . BCM GRCh38.p13 chr22 39646774 39646774 + G G A Missense_Mutation SNP ENST00000402142.4 exon8 c.G1355A p.R452H exonic ENSG00000100346.18 . nonsynonymous SNV ENSG00000100346.18:ENST00000402142.4:exon8:c.G1355A:p.R452H 22q13.1 C3N-03839 0.0001 0 0 0 0.0028 7.019e-05 0 0 rs575049762 16.20 D D D D D D L D D 0.582 D D D 0.654 . 0.905 1.134 T T D D T D 3.896 26.300 0.999 D D 0.393 4.302 0.294 3.681 1.000 0.516 0.610 0.578 0.613 . 3.550 3.550 4.738 1.176 0.618 1.000 0.907 0.936 872 . . . . CACNA1I 366 0 537 101 0.158307210031348 TRUE NA ENSG00000146950.13 . BCM GRCh38.p13 chrX 9937379 9937379 + C C T Missense_Mutation SNP ENST00000380913.8 exon7 c.C3833T p.P1278L exonic ENSG00000146950.13 . nonsynonymous SNV ENSG00000146950.13:ENST00000380913.8:exon7:c.C3833T:p.P1278L Xp22.2 C3N-03839 5.095e-05 0 0 0 0 9.419e-05 0 0 rs748501801 2.19 T T B B N N L T D 0.040 T T D 0.032 0.255 0.527 0.320 T T T T T T 0.565 7.169 0.712 N . . . . . 0.998 . . . . . 3.180 0.173 -0.017 0.788 0.454 0.001 0.002 0.003 949 . . . . SHROOM2 157 1 217 57 0.208029197080292 TRUE NA ENSG00000008086.13 . BCM GRCh38.p13 chrX 18619930 18619930 + C C G Missense_Mutation SNP ENST00000623535.2 exon16 c.C2340G p.F780L exonic ENSG00000008086.13 . nonsynonymous SNV ENSG00000008086.13:ENST00000623535.2:exon16:c.C2340G:p.F780L Xp22.13 C3N-03839 . . . . . . . . . 9.19 D D P B D D M T N 0.430 T T D 0.428 0.246 0.816 0.399 T T T T D D 2.786 23.000 0.999 D . . . . . 0.998 . . . . . 5.440 4.560 2.079 1.025 0.599 1.000 1.000 0.998 137 . . . . CDKL5 225 0 300 125 0.294117647058824 TRUE TRUE ENSG00000124313.16 . BCM GRCh38.p13 chrX 53250984 53250984 + C C T Missense_Mutation SNP ENST00000642864.1 exon5 c.G1592A p.R531Q exonic ENSG00000124313.16 . nonsynonymous SNV ENSG00000124313.16:ENST00000642864.1:exon5:c.G1592A:p.R531Q Xp11.22 C3N-03839 . . . . . . . . . 6.17 D T P B N D . T N 0.429 T T D 0.202 0.065 0.463 1.520 T . T T D D 3.711 25.500 0.999 D . . . . . 1.000 . . . . . 5.280 4.360 5.847 0.947 0.597 1.000 1.000 1.000 49 . . . . IQSEC2 198 0 394 33 0.0772833723653396 TRUE NA ENSG00000101890.5 . BCM GRCh38.p13 chrX 109388621 109388621 + G G A Missense_Mutation SNP ENST00000218006.3 exon15 c.C2824T p.P942S exonic ENSG00000101890.5 . nonsynonymous SNV ENSG00000101890.5:ENST00000218006.3:exon15:c.C2824T:p.P942S Xq22.3 C3N-03839 . . . . . . . . . 18.19 D D D D D D M D D 0.839 D D D 0.848 0.875 0.868 0.525 T D D D D D 3.474 24.600 0.999 D . . . . . 0.970 . . . . . 4.210 3.310 7.955 1.176 0.674 1.000 0.859 0.996 491 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . . GUCY2F 253 0 348 202 0.367272727272727 TRUE TRUE ENSG00000123496.8 . BCM GRCh38.p13 chrX 115010676 115010676 + G G A Missense_Mutation SNP ENST00000243213.2 exon6 c.C674T p.S225F exonic ENSG00000123496.8 . nonsynonymous SNV ENSG00000123496.8:ENST00000243213.2:exon6:c.C674T:p.S225F Xq23 C3N-03839 . . . . . . . . . 11.19 D D D D N N L D D 0.364 T D D 0.426 0.677 0.558 0.880 T D T T D T 4.209 28.700 0.998 D . . . . . 1.000 . . . . . 5.150 5.150 6.017 1.176 0.618 1.000 0.998 0.979 924 Fibronectin_type_III;Type_I_cytokine_receptor,_cytokine-binding_domain . . . IL13RA2 58 0 59 37 0.385416666666667 TRUE TRUE ENSG00000186376.15 . BCM GRCh38.p13 chrX 135291094 135291094 + C C A Missense_Mutation SNP ENST00000370766.8 exon6 c.G738T p.E246D exonic ENSG00000186376.15 . nonsynonymous SNV ENSG00000186376.15:ENST00000370766.8:exon6:c.G738T:p.E246D Xq26.3 C3N-03839 . . . . . . . . . 3.19 D D B B N N M T N 0.319 T T T 0.067 0.662 0.694 0.174 T T T T T T 0.937 10.840 0.986 N . . . . . 0.097 . . . . . 2.780 -1.330 -1.182 -0.076 -0.285 0.000 0.996 0.986 377 Krueppel-associated_box . . . ZNF75D 181 0 375 33 0.0808823529411765 TRUE TRUE ENSG00000155966.14 . BCM GRCh38.p13 chrX 148956468 148956468 + A A T Missense_Mutation SNP ENST00000370460.7 exon11 c.A2423T p.D808V exonic ENSG00000155966.14 . nonsynonymous SNV ENSG00000155966.14:ENST00000370460.7:exon11:c.A2423T:p.D808V Xq28 C3N-03839 . . . . . . . . . 12.19 D D B B D D M T D 0.539 T T D 0.329 0.678 0.749 0.626 T D D T D D 2.659 22.800 0.989 D . . . . . 0.990 . . . . . 5.870 2.280 2.312 0.314 0.756 1.000 0.995 0.998 877 . . . . AFF2 303 0 369 166 0.310280373831776 TRUE TRUE ENSG00000102195.10 . BCM GRCh38.p13 chrX 151180193 151180193 + G G A Missense_Mutation SNP ENST00000218316.4 exon2 c.G610A p.V204M exonic ENSG00000102195.10 . nonsynonymous SNV ENSG00000102195.10:ENST00000218316.4:exon2:c.G610A:p.V204M Xq28 C3N-03839 . . . . . . . . . 7.19 T D P P D D L T D 0.753 T T T 0.271 0.554 0.522 0.389 T T T T D D 3.691 25.400 0.998 D . . . . . 1.000 . . . . . 4.330 4.330 9.943 1.172 0.672 1.000 0.652 0.144 924 GPCR,_rhodopsin-like,_7TM . . ID=COSV54436783;OCCURENCE=1(large_intestine),1(stomach),1(kidney),1(pancreas),1(skin) GPR50 182 0 227 114 0.334310850439883 TRUE TRUE ENSG00000198910.14 . BCM GRCh38.p13 chrX 153864848 153864848 + G G A Missense_Mutation SNP ENST00000370060.7 exon23 c.C3019T p.R1007W exonic ENSG00000198910.14 . nonsynonymous SNV ENSG00000198910.14:ENST00000370060.7:exon23:c.C3019T:p.R1007W Xq28 C3N-03839 . . . . . . . . . 9.19 D D D P N N M T D 0.372 T T D 0.271 0.560 0.620 0.956 T D T T D D 3.412 24.400 0.999 N . . . . . 0.935 . . . . . 5.170 4.240 0.747 1.176 0.671 0.000 0.977 0.872 155 Fibronectin_type_III . . ID=COSV62827938;OCCURENCE=1(large_intestine),1(NS),1(stomach) L1CAM 461 0 827 120 0.126715945089757 TRUE TRUE ENSG00000130827.6 . BCM GRCh38.p13 chrX 154466035 154466035 + G G T Missense_Mutation SNP ENST00000369682.4 exon14 c.G2633T p.G878V exonic ENSG00000130827.6 . nonsynonymous SNV ENSG00000130827.6:ENST00000369682.4:exon14:c.G2633T:p.G878V Xq28 C3N-03839 . . . . . . . . . 12.14 D D . . D D . T D 0.768 D D D 0.770 0.781 0.974 . T . D D D . 3.646 25.200 0.998 D . . . . . 1.000 . . . . . 5.320 5.320 4.680 1.176 0.674 1.000 0.979 0.957 74 . . . . PLXNA3 223 0 420 58 0.121338912133891 TRUE TRUE ENSG00000052795.13 . BCM GRCh38.p13 chr4 158895749 158895749 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000052795.13 ENST00000264433.11:exon16:c.3151-1G>A . . 4q32.1 C3N-03839 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.395 34 0.995 D . 1.231 26.911 1.087 25.609 1.000 0.094 0.085 0.084 0.130 0.979 5.450 5.450 9.940 1.176 0.618 1.000 0.999 0.979 845 . . . . FNIP2 118 0 164 36 0.18 TRUE TRUE ENSG00000078808.18 . BCM GRCh38.p13 chr1 1217524 1217524 + G G A Silent SNP ENST00000360001.11 exon7 c.C1056T p.H352H exonic ENSG00000078808.18 . synonymous SNV ENSG00000078808.18:ENST00000360001.11:exon7:c.C1056T:p.H352H 1p36.33 C3N-03839 0.0007 0.0001 0.0001 0.0002 0.0018 0.0010 0 0 rs141093711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SDF4 85 0 153 25 0.140449438202247 TRUE NA ENSG00000158828.8 . BCM GRCh38.p13 chr1 20639954 20639954 + A A T Silent SNP ENST00000321556.5 exon3 c.A738T p.R246R exonic ENSG00000158828.8 . synonymous SNV ENSG00000158828.8:ENST00000321556.5:exon3:c.A738T:p.R246R 1p36.12 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PINK1 567 0 815 157 0.161522633744856 TRUE TRUE ENSG00000160785.13 . BCM GRCh38.p13 chr1 156207977 156207977 + C C T Silent SNP ENST00000359511.4 exon3 c.C717T p.L239L exonic ENSG00000160785.13 . synonymous SNV ENSG00000160785.13:ENST00000359511.4:exon3:c.C717T:p.L239L 1q22 C3N-03839 3.295e-05 0 0 0 0 5.996e-05 0 0 rs764738266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100849321;OCCURENCE=1(central_nervous_system) SLC25A44 212 0 336 61 0.153652392947103 TRUE NA ENSG00000133067.17 . BCM GRCh38.p13 chr1 202276387 202276387 + C C T Silent SNP ENST00000367278.7 exon5 c.C510T p.D170D exonic ENSG00000133067.17 . synonymous SNV ENSG00000133067.17:ENST00000367278.7:exon5:c.C510T:p.D170D 1q32.1 C3N-03839 2.478e-05 0.0002 0 0 0 1.503e-05 0 0 rs373499034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55167093;OCCURENCE=1(cervix),2(large_intestine),1(lung),1(endometrium) LGR6 266 0 336 43 0.113456464379947 TRUE TRUE ENSG00000115998.7 . BCM GRCh38.p13 chr2 70150446 70150446 + C C T Silent SNP ENST00000264434.6 exon10 c.G1635A p.R545R exonic ENSG00000115998.7 . synonymous SNV ENSG00000115998.7:ENST00000264434.6:exon10:c.G1635A:p.R545R 2p13.3 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C2orf42 615 0 865 169 0.163442940038685 TRUE TRUE ENSG00000204406.13 . BCM GRCh38.p13 chr2 148489391 148489391 + A A G Silent SNP ENST00000407073.5 exon12 c.A3060G p.R1020R exonic ENSG00000204406.13 . synonymous SNV ENSG00000204406.13:ENST00000407073.5:exon12:c.A3060G:p.R1020R 2q23.1 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MBD5 314 1 455 68 0.130019120458891 TRUE TRUE ENSG00000154928.18 . BCM GRCh38.p13 chr3 135166023 135166023 + G G A Silent SNP ENST00000398015.8 exon8 c.G1641A p.A547A exonic ENSG00000154928.18 . synonymous SNV ENSG00000154928.18:ENST00000398015.8:exon8:c.G1641A:p.A547A 3q22.2 C3N-03839 2.485e-05 0.0001 0 0 0 2.998e-05 0 0 rs776531462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101212909;OCCURENCE=1(ovary),1(stomach) EPHB1 273 0 419 59 0.123430962343096 TRUE NA ENSG00000197894.11 . BCM GRCh38.p13 chr4 99072602 99072602 + T T C Silent SNP ENST00000296412.13 exon8 c.A1071G p.K357K exonic ENSG00000197894.11 . synonymous SNV ENSG00000197894.11:ENST00000296412.13:exon8:c.A1071G:p.K357K 4q23 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADH5 101 0 141 26 0.155688622754491 TRUE TRUE ENSG00000005073.6 . BCM GRCh38.p13 chr7 27184842 27184842 + G G A Silent SNP ENST00000006015.4 exon1 c.C303T p.G101G exonic ENSG00000005073.6 . synonymous SNV ENSG00000005073.6:ENST00000006015.4:exon1:c.C303T:p.G101G 7p15.2 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50053023;OCCURENCE=1(large_intestine),2(urinary_tract) HOXA11 262 0 374 62 0.142201834862385 TRUE TRUE ENSG00000173253.15 . BCM GRCh38.p13 chr9 1056646 1056646 + C C T Silent SNP ENST00000382251.7 exon5 c.C1059T p.T353T exonic ENSG00000173253.15 . synonymous SNV ENSG00000173253.15:ENST00000382251.7:exon5:c.C1059T:p.T353T 9p24.3 C3N-03839 . . . . . . . . rs564464685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMRT2 277 0 315 59 0.157754010695187 TRUE NA ENSG00000148602.6 . BCM GRCh38.p13 chr10 84232410 84232410 + G G A Silent SNP ENST00000372105.4 exon4 c.C1389T p.Y463Y exonic ENSG00000148602.6 . synonymous SNV ENSG00000148602.6:ENST00000372105.4:exon4:c.C1389T:p.Y463Y 10q23.1 C3N-03839 0.0008 0.0077 0.0005 0 0.0008 7.534e-05 0 0.0003 rs142074653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64513694;OCCURENCE=1(central_nervous_system),1(endometrium) LRIT1 480 0 604 143 0.191432396251673 TRUE TRUE ENSG00000197430.11 . BCM GRCh38.p13 chr10 96349761 96349761 + C C T Silent SNP ENST00000371172.8 exon4 c.G138A p.V46V exonic ENSG00000197430.11 . synonymous SNV ENSG00000197430.11:ENST00000371172.8:exon4:c.G138A:p.V46V 10q24.1 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OPALIN 238 0 341 50 0.127877237851662 TRUE NA ENSG00000165917.10 . BCM GRCh38.p13 chr11 47447860 47447860 + G G A Silent SNP ENST00000298854.7 exon2 c.C483T p.L161L exonic ENSG00000165917.10 . synonymous SNV ENSG00000165917.10:ENST00000298854.7:exon2:c.C483T:p.L161L 11p11.2 C3N-03839 2.785e-05 0 9.699e-05 0 0 0 0 0.0001 rs754775068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAPSN 298 0 473 90 0.159857904085258 TRUE NA ENSG00000130037.5 . BCM GRCh38.p13 chr12 5045008 5045008 + G G A Silent SNP ENST00000252321.5 exon1 c.G861A p.A287A exonic ENSG00000130037.5 . synonymous SNV ENSG00000130037.5:ENST00000252321.5:exon1:c.G861A:p.A287A 12p13.32 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52907103;OCCURENCE=1(meninges),1(cervix),1(large_intestine),1(endometrium) KCNA5 382 0 545 117 0.176737160120846 TRUE TRUE ENSG00000167522.16 . BCM GRCh38.p13 chr16 89281355 89281355 + G G A Silent SNP ENST00000301030.10 exon9 c.C5187T p.A1729A exonic ENSG00000167522.16 . synonymous SNV ENSG00000167522.16:ENST00000301030.10:exon9:c.C5187T:p.A1729A 16q24.3 C3N-03839 8.384e-06 0 0 0 0 0 0 6.19e-05 rs770331336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56354446;OCCURENCE=2(large_intestine) ANKRD11 102 0 128 31 0.19496855345912 TRUE TRUE ENSG00000159882.13 . BCM GRCh38.p13 chr19 44010522 44010522 + C C T Silent SNP ENST00000429154.7 exon5 c.C483T p.F161F exonic ENSG00000159882.13 . synonymous SNV ENSG00000159882.13:ENST00000429154.7:exon5:c.C483T:p.F161F 19q13.31 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF230 322 0 383 160 0.294659300184162 TRUE TRUE ENSG00000142408.5 . BCM GRCh38.p13 chr19 53963349 53963349 + G G C Silent SNP ENST00000270458.2 exon1 c.G207C p.G69G exonic ENSG00000142408.5 . synonymous SNV ENSG00000142408.5:ENST00000270458.2:exon1:c.G207C:p.G69G 19q13.42 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNG8 180 0 231 87 0.273584905660377 TRUE TRUE ENSG00000087510.7 . BCM GRCh38.p13 chr20 56631810 56631810 + C C T Silent SNP ENST00000201031.3 exon3 c.C540T p.V180V exonic ENSG00000087510.7 . synonymous SNV ENSG00000087510.7:ENST00000201031.3:exon3:c.C540T:p.V180V 20q13.31 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TFAP2C 275 0 464 82 0.15018315018315 TRUE TRUE ENSG00000178035.12 . BCM GRCh38.p13 chr3 49029236 49029236 + G G A Intron SNP NA NA NA NA intronic ENSG00000178035.12 . . . 3p21.31 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IMPDH2 340 0 422 70 0.142276422764228 TRUE NA ENSG00000138835.22 . BCM GRCh38.p13 chr9 113594142 113594142 + G G C Intron SNP NA NA NA NA intronic ENSG00000138835.22 . . . 9q32 C3N-03839 . . . . . . . . . 3.14 D D . . . D . T N 0.224 T T T 0.075 0.208 0.225 . . . T T T T 0.756 8.971 0.999 N N -0.701 0.811 -0.633 0.997 1.000 0.394 0.518 0.520 0.373 . 3.910 3.010 0.897 1.172 0.672 0.001 0.060 0.066 852 . . . . RGS3 267 0 386 74 0.160869565217391 TRUE NA ENSG00000221949.5 . BCM GRCh38.p13 chr12 62602955 62602955 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000221949.5 . . . 12q14.1 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01465 216 0 321 55 0.146276595744681 TRUE NA ENSG00000165525.18 . BCM GRCh38.p13 chr14 49796240 49796240 + G G A Intron SNP NA NA NA NA intronic ENSG00000165525.18 . . . 14q21.3 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEMF 142 0 251 38 0.131487889273356 TRUE NA ENSG00000279735.2 . BCM GRCh38.p13 chr15 25092337 25092337 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000279735.2 . . . 15q11.2 C3N-03839 . . . . . . . . rs1055578757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC124312.4 177 0 218 49 0.183520599250936 TRUE NA ENSG00000267749.1 . BCM GRCh38.p13 chr19 2643128 2643128 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000267749.1 . . . 19p13.3 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092068.3 724 0 968 97 0.0910798122065728 TRUE NA ENSG00000221930.6 . BCM GRCh38.p13 chrX 130495639 130495639 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000221930.6 . . . Xq26.1 C3N-03839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DENND10P1 613 1 801 397 0.331385642737897 TRUE NA ENSG00000116641.18 . BCM GRCh38.p13 chr1 62633575 62633575 + C C A Nonsense_Mutation SNP ENST00000635253.2 exon10 c.G1039T p.E347X exonic ENSG00000116641.18 . stopgain ENSG00000116641.18:ENST00000635253.2:exon10:c.G1039T:p.E347X 1p31.3 C3L-04479 . . . . . . . . . 5.6 . . . . D A . . . 0.946 . . . . . . . . . D D . . 7.065 37 0.996 D N 1.042 15.297 0.846 11.642 1.000 0.707 0.709 0.609 0.714 . 4.010 4.010 7.812 1.022 0.596 1.000 0.993 0.919 835 . . . . DOCK7 100 0 225 22 0.0890688259109312 TRUE TRUE ENSG00000175143.4 . BCM GRCh38.p13 chr1 248406715 248406715 + G G A Missense_Mutation SNP ENST00000366474.1 exon1 c.G721A p.D241N exonic ENSG00000175143.4 . nonsynonymous SNV ENSG00000175143.4:ENST00000366474.1:exon1:c.G721A:p.D241N 1q44 C3L-04479 . . . . . . . . . 5.20 D D P P U N L T D 0.359 T T T 0.110 0.477 0.403 0.023 T T T T D D 2.411 22.100 0.998 N N -0.082 2.231 -0.182 1.828 0.951 0.487 0.233 0.574 0.564 . 4.750 3.840 0.646 0.945 0.656 0.001 0.100 0.140 982 GPCR,_rhodopsin-like,_7TM . . . OR2T1 158 0 302 26 0.0792682926829268 TRUE TRUE ENSG00000151690.15 . BCM GRCh38.p13 chr2 190436967 190436967 + C C T Missense_Mutation SNP ENST00000392328.6 exon3 c.C938T p.T313I exonic ENSG00000151690.15 . nonsynonymous SNV ENSG00000151690.15:ENST00000392328.6:exon3:c.C938T:p.T313I 2q32.2 C3L-04479 . . . . . . . . . 17.20 D D D D D D M T N 0.882 D D D 0.622 0.634 0.731 1.251 D T D D D D 3.353 24.300 0.998 D D 0.669 6.706 0.586 6.058 1.000 0.707 0.725 0.602 0.655 . 6.070 6.070 7.905 1.026 0.599 1.000 0.227 0.893 697 Major_facilitator_superfamily_associated_domain . . . MFSD6 280 0 445 45 0.0918367346938776 TRUE TRUE ENSG00000206557.6 . BCM GRCh38.p13 chr3 32890543 32890543 + G G A Missense_Mutation SNP ENST00000383763.6 exon4 c.G1339A p.V447M exonic ENSG00000206557.6 . nonsynonymous SNV ENSG00000206557.6:ENST00000383763.6:exon4:c.G1339A:p.V447M 3p22.3 C3L-04479 0.0004 0 0 0.0043 0 7.518e-05 0 0.0001 rs192447957 5.20 T T B B N D N D N 0.096 T T D 0.136 . 0.323 0.969 T T T T T D 2.132 20.300 0.980 D N -0.248 1.747 -0.097 2.057 1.000 0.646 0.588 0.696 0.542 . 5.650 2.750 3.309 0.245 0.676 1.000 0.980 0.997 845 . . . ID=COSV101070400;OCCURENCE=2(stomach) TRIM71 221 1 448 78 0.14828897338403 TRUE NA ENSG00000163848.19 . BCM GRCh38.p13 chr3 125234297 125234300 + TACC TACC - Nonsense_Mutation DEL ENST00000360647.8 exon8 c.697_700del p.G233* exonic ENSG00000163848.19 . stopgain ENSG00000163848.19:ENST00000360647.8:exon8:c.697_700del:p.G233* 3q21.2 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF148 145 0 212 16 0.0701754385964912 TRUE TRUE ENSG00000262576.3 . BCM GRCh38.p13 chr5 141357089 141357089 + G G A Missense_Mutation SNP ENST00000571252.3 exon1 c.G1982A p.R661Q exonic ENSG00000262576.3 . nonsynonymous SNV ENSG00000262576.3:ENST00000571252.3:exon1:c.G1982A:p.R661Q 5q31.3 C3L-04479 . . . . . . . . . 6.8 . D . . . D . . . 0.448 . . D . . 0.687 0.959 . . T T . D 3.765 25.700 0.999 D D . . . . 1.000 0.549 0.547 0.604 0.616 . 5.590 4.700 5.699 1.175 0.676 0.995 0.144 0.001 642 Cadherin-like . . ID=COSV53893624;OCCURENCE=2(large_intestine) PCDHGA4 289 0 486 44 0.0830188679245283 TRUE TRUE ENSG00000091704.10 . BCM GRCh38.p13 chr7 130383686 130383686 + - NA ACT In_Frame_Ins INS ENST00000011292.8 exon6 c.588_589insACT p.T197_Q198insT exonic ENSG00000091704.10 . nonframeshift insertion ENSG00000091704.10:ENST00000011292.8:exon6:c.588_589insACT:p.T197_Q198insT 7q32.2 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPA1 NA NA NA NA NA NA NA ENSG00000168619.16 . BCM GRCh38.p13 chr8 39729908 39729908 + G G A Missense_Mutation SNP ENST00000265707.10 exon20 c.G2188A p.V730I exonic ENSG00000168619.16 . nonsynonymous SNV ENSG00000168619.16:ENST00000265707.10:exon20:c.G2188A:p.V730I 8p11.22 C3L-04479 0.0002 9.615e-05 8.639e-05 0 0 0.0003 0 0 rs142507282 1.18 T T B B . N N D N 0.144 T T T 0.255 . 0.252 0.016 T T T T T . -0.920 0.012 0.385 N N -1.983 0.010 -1.975 0.015 0.000 0.487 0.574 0.547 0.564 . 3.630 -1.920 -0.033 -0.938 -2.602 0.000 0.002 0.000 856 . . . ID=COSV55843179;OCCURENCE=2(large_intestine),6(ovary),1(endometrium) ADAM18 136 0 259 21 0.075 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21974776 21974776 + - NA GGCCAGCC Frame_Shift_Ins INS ENST00000304494.9 exon1 c.51_52insGGCTGGCC p.T18Gfs*11 exonic ENSG00000147889.17 . frameshift insertion ENSG00000147889.17:ENST00000304494.9:exon1:c.51_52insGGCTGGCC:p.T18Gfs*11 9p21.3 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A NA NA NA NA NA NA NA ENSG00000023191.17 . BCM GRCh38.p13 chr11 498092 498092 + C C A Missense_Mutation SNP ENST00000354420.7 exon9 c.G1006T p.V336L exonic ENSG00000023191.17 . nonsynonymous SNV ENSG00000023191.17:ENST00000354420.7:exon9:c.G1006T:p.V336L 11p15.5 C3L-04479 . . . . . . . . . 0.20 T T B B N N L T N 0.207 T T T 0.072 0.673 0.358 0.140 T T T T T T 0.527 6.783 0.823 N N -0.858 0.574 -0.944 0.561 0.998 0.672 0.702 0.702 0.711 . 3.830 -0.063 -1.010 -0.063 0.524 0.000 0.011 0.108 884 . . . . RNH1 197 0 443 36 0.0751565762004175 TRUE TRUE ENSG00000166927.13 . BCM GRCh38.p13 chr11 60389487 60389487 + C C T Missense_Mutation SNP ENST00000300184.8 exon5 c.C437T p.S146F exonic ENSG00000166927.13 . nonsynonymous SNV ENSG00000166927.13:ENST00000300184.8:exon5:c.C437T:p.S146F 11q12.2 C3L-04479 . . . . . . . . . 1.20 T D P B N N N T N 0.369 T T T 0.087 0.719 0.118 0.097 T T T T T T 0.960 11.120 0.606 N N -1.181 0.241 -1.254 0.241 1.000 0.503 0.623 0.574 0.564 . 3.690 -0.365 0.871 -0.763 -0.780 0.018 0.001 0.010 828 . . . . MS4A7 278 1 499 44 0.0810313075506446 TRUE TRUE ENSG00000168439.17 . BCM GRCh38.p13 chr11 64202892 64202892 + T T C Missense_Mutation SNP ENST00000305218.9 exon11 c.T1262C p.I421T exonic ENSG00000168439.17 . nonsynonymous SNV ENSG00000168439.17:ENST00000305218.9:exon11:c.T1262C:p.I421T 11q13.1 C3L-04479 . . . . . . . . . 15.20 D D D D D D M T D 0.881 T T D 0.715 0.741 0.790 1.555 T T D D D D 4.345 29.900 0.998 D D 0.754 7.938 0.709 7.918 1.000 0.707 0.702 0.725 0.714 . 5.000 5.000 7.002 1.138 0.665 1.000 1.000 0.981 596 Tetratricopeptide_repeat-containing_domain . . . STIP1 249 0 518 47 0.0831858407079646 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-04479 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 284 0 530 105 0.165354330708661 TRUE TRUE ENSG00000072736.19 . BCM GRCh38.p13 chr16 68191326 68191326 + G G A Missense_Mutation SNP ENST00000346183.8 exon9 c.G2657A p.C886Y exonic ENSG00000072736.19 . nonsynonymous SNV ENSG00000072736.19:ENST00000346183.8:exon9:c.G2657A:p.C886Y 16q22.1 C3L-04479 . . . . . . . . . 9.20 D T D D D D L T N 0.612 T T T 0.157 0.258 0.068 0.545 T T T T D D 3.870 26.200 0.995 D D 0.554 5.485 0.588 6.077 1.000 0.707 0.725 0.725 0.714 . 5.490 4.520 6.248 1.176 0.676 1.000 1.000 0.998 12 . . . . NFATC3 213 0 318 25 0.0728862973760933 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675109 7675109 + T T C Missense_Mutation SNP ENST00000269305.8 exon5 c.A503G p.H168R exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.A503G:p.H168R 17p13.1 C3L-04479 . . . . . . . . rs867114783 18.20 D D D D N D M D D 0.516 D D D 0.562 0.765 0.970 1.545 T D D D D D 2.929 23.300 0.975 D D -0.026 2.420 -0.206 1.771 0.746 0.722 0.698 0.698 0.735 . 5.590 0.619 5.173 0.166 0.665 1.000 0.845 0.725 434 p53,_DNA-binding_domain . . ID=COSV52698349;OCCURENCE=1(breast),1(liver),3(oesophagus),6(large_intestine),3(central_nervous_system),2(ovary),3(haematopoietic_and_lymphoid_tissue),3(stomach),1(soft_tissue),1(pancreas),2(lung),1(small_intestine),1(endometrium) TP53 356 1 548 47 0.0789915966386555 TRUE TRUE ENSG00000091536.19 . BCM GRCh38.p13 chr17 18119750 18119750 + C C T Missense_Mutation SNP ENST00000647165.2 exon2 c.C950T p.A317V exonic ENSG00000091536.19 . nonsynonymous SNV ENSG00000091536.19:ENST00000647165.2:exon2:c.C950T:p.A317V 17p11.2 C3L-04479 0.0001 0.0013 0 0 0 0 0 0.0002 rs372516960 7.19 T D D P . N L D N 0.475 D D D 0.314 . 0.852 . T T T T T T 2.888 23.200 0.999 D N 0.377 4.207 0.376 4.194 0.192 0.517 0.547 0.479 0.563 . 5.820 5.820 2.457 0.925 0.575 0.629 0.099 0.009 246 . . . ID=COSV52760857;OCCURENCE=1(large_intestine),1(prostate) MYO15A 337 0 390 43 0.0993071593533487 TRUE TRUE ENSG00000173991.6 . BCM GRCh38.p13 chr17 39665754 39665754 + C C A Missense_Mutation SNP ENST00000309889.3 exon2 c.C149A p.T50N exonic ENSG00000173991.6 . nonsynonymous SNV ENSG00000173991.6:ENST00000309889.3:exon2:c.C149A:p.T50N 17q12 C3L-04479 . . . . . . . . . 16.20 D D D D D D M D D 0.670 D D D 0.556 0.526 0.977 0.920 T D T T D T 3.478 24.600 0.904 D D 0.551 5.457 0.597 6.188 1.000 0.583 0.759 0.460 0.621 . 5.710 5.710 3.278 1.026 0.599 1.000 0.998 0.939 632 . . . . TCAP 96 0 179 20 0.100502512562814 TRUE TRUE ENSG00000185269.12 . BCM GRCh38.p13 chr17 81956892 81956892 + C C T Missense_Mutation SNP ENST00000409678.8 exon7 c.G878A p.R293H exonic ENSG00000185269.12 . nonsynonymous SNV ENSG00000185269.12:ENST00000409678.8:exon7:c.G878A:p.R293H 17q25.3 C3L-04479 0.0001 0.0001 0 0.0001 0 4.802e-05 0 0.0005 rs780508873 14.19 D D D D D D M . D 0.810 D T D 0.311 . 0.177 1.525 T T T D T D 3.664 25.300 0.999 D D 0.648 6.448 0.564 5.801 1.000 0.516 0.610 0.576 0.563 . 4.610 4.610 5.601 0.936 0.537 1.000 0.950 0.742 . . . . ID=COSV68826063;OCCURENCE=1(stomach),1(soft_tissue) NOTUM 125 0 251 37 0.128472222222222 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51048751 51048751 + - NA A Frame_Shift_Ins INS ENST00000342988.8 exon3 c.316dupA p.N107Kfs*2 exonic ENSG00000141646.14 . frameshift insertion ENSG00000141646.14:ENST00000342988.8:exon3:c.316dupA:p.N107Kfs*2 18q21.2 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMAD4 NA NA NA NA NA NA NA ENSG00000065717.15 . BCM GRCh38.p13 chr19 3028340 3028340 + T T A Missense_Mutation SNP ENST00000262953.11 exon3 c.A165T p.E55D exonic ENSG00000065717.15 . nonsynonymous SNV ENSG00000065717.15:ENST00000262953.11:exon3:c.A165T:p.E55D 19p13.3 C3L-04479 . . . . . . . . . 11.20 D D B B D D L T D 0.763 T T D 0.346 0.643 0.797 0.272 D T T T D D 2.019 19.400 0.997 D D 0.026 2.605 -0.060 2.166 0.916 0.726 0.596 0.641 0.604 . 4.120 -0.813 0.152 0.044 0.481 0.966 0.997 0.975 988 Groucho/TLE,_N-terminal_Q-rich_domain . . . TLE2 160 0 398 35 0.0808314087759815 TRUE TRUE ENSG00000141837.21 . BCM GRCh38.p13 chr19 13245222 13245222 + A A G Missense_Mutation SNP ENST00000360228.11 exon31 c.T4910C p.V1637A exonic ENSG00000141837.21 . nonsynonymous SNV ENSG00000141837.21:ENST00000360228.11:exon31:c.T4910C:p.V1637A 19p13.13 C3L-04479 . . . . . . . . . 18.18 D D . . D D H D D 0.788 D D D 0.956 0.750 0.978 2.370 D D D D D D 4.180 28.500 0.995 D D 0.907 11.244 0.801 10.149 1.000 0.706 0.547 0.710 0.613 . 4.670 4.670 9.279 1.298 0.740 1.000 0.996 0.996 862 Ion_transport_domain . . . CACNA1A 138 0 357 32 0.0822622107969152 TRUE TRUE ENSG00000083814.13 . BCM GRCh38.p13 chr19 57721694 57721694 + C C T Missense_Mutation SNP ENST00000317398.10 exon4 c.G392A p.C131Y exonic ENSG00000083814.13 . nonsynonymous SNV ENSG00000083814.13:ENST00000317398.10:exon4:c.G392A:p.C131Y 19q13.43 C3L-04479 8.374e-06 0 0 0 0 0 0 6.563e-05 rs763847941 5.19 D D D P . N L T D 0.197 T T T 0.030 0.394 0.437 0.262 T T T T T T 1.901 18.500 0.405 D N -0.185 1.919 -0.399 1.373 0.033 0.563 0.654 0.609 0.492 . 1.660 1.660 0.504 -0.015 0.549 0.119 0.344 0.976 970 . . . . ZNF671 87 0 162 14 0.0795454545454545 TRUE NA ENSG00000196090.12 . BCM GRCh38.p13 chr20 42472335 42472335 + G G A Nonsense_Mutation SNP ENST00000373187.5 exon8 c.C1381T p.R461X exonic ENSG00000196090.12 . stopgain ENSG00000196090.12:ENST00000373187.5:exon8:c.C1381T:p.R461X 20q12 C3L-04479 . . . . . . . . . 5.6 . . . . D A . . . 0.871 . . . . . . . . . D D . . 7.804 39 0.998 D N 0.458 4.725 0.259 3.489 0.001 0.554 0.574 0.602 0.564 . 5.280 0.360 0.779 1.083 0.676 0.988 0.953 0.996 939 Fibronectin_type_III . . ID=COSV61958074;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(stomach),1(lung) PTPRT 305 0 544 54 0.0903010033444816 TRUE TRUE ENSG00000184792.16 . BCM GRCh38.p13 chr22 30694991 30694991 + C C T Missense_Mutation SNP ENST00000332585.11 exon1 c.C82T p.P28S exonic ENSG00000184792.16 . nonsynonymous SNV ENSG00000184792.16:ENST00000332585.11:exon1:c.C82T:p.P28S 22q12.2 C3L-04479 . . . . . . . . . 8.20 D D D D N D L T N 0.181 T T D 0.115 0.270 0.696 1.512 D T T T D T 3.402 24.400 0.999 N N 0.350 4.046 0.312 3.789 1.000 0.443 0.166 0.666 0.604 . 3.640 3.640 0.544 0.928 0.578 0.000 0.998 0.994 356 . . . . OSBP2 133 0 367 39 0.0960591133004926 TRUE TRUE ENSG00000189108.13 . BCM GRCh38.p13 chrX 105267451 105267451 + G G C Missense_Mutation SNP ENST00000372582.6 exon5 c.G607C p.E203Q exonic ENSG00000189108.13 . nonsynonymous SNV ENSG00000189108.13:ENST00000372582.6:exon5:c.G607C:p.E203Q Xq22.3 C3L-04479 . . . . . . . . . 7.19 T D P P D D L T N 0.278 T T D 0.347 0.453 0.861 2.064 T T T T D D 2.876 23.200 0.996 D . . . . . 1.000 . . . . . 5.550 5.550 6.279 1.176 0.676 1.000 0.978 0.978 135 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IL1RAPL2 64 0 98 24 0.19672131147541 TRUE NA ENSG00000060718.22 . BCM GRCh38.p13 chr1 102940336 102940336 + G G A Silent SNP ENST00000370096.9 exon43 c.C3375T p.D1125D exonic ENSG00000060718.22 . synonymous SNV ENSG00000060718.22:ENST00000370096.9:exon43:c.C3375T:p.D1125D 1p21.1 C3L-04479 0.1470 0.2038 0.0579 0.0132 0.1731 0.1725 0.1258 0.1315 rs17127270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62189732;OCCURENCE=1(breast) COL11A1 340 1 597 57 0.0871559633027523 TRUE TRUE ENSG00000169258.7 . BCM GRCh38.p13 chr5 176596937 176596937 + G G T Silent SNP ENST00000303991.5 exon2 c.C2898A p.G966G exonic ENSG00000169258.7 . synonymous SNV ENSG00000169258.7:ENST00000303991.5:exon2:c.C2898A:p.G966G 5q35.2 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPRIN1 33 0 61 7 0.102941176470588 NA TRUE ENSG00000009335.18 . BCM GRCh38.p13 chr7 157216908 157216908 + G G A Silent SNP ENST00000348165.10 exon14 c.G1851A p.T617T exonic ENSG00000009335.18 . synonymous SNV ENSG00000009335.18:ENST00000348165.10:exon14:c.G1851A:p.T617T 7q36.3 C3L-04479 8.257e-06 0 8.654e-05 0 0 0 0 0 rs777222555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBE3C 232 0 445 44 0.0899795501022495 TRUE NA ENSG00000139323.14 . BCM GRCh38.p13 chr12 89525154 89525154 + G G T Silent SNP ENST00000313546.8 exon2 c.C66A p.T22T exonic ENSG00000139323.14;ENSG00000259075.6 . synonymous SNV ENSG00000139323.14:ENST00000313546.8:exon2:c.C66A:p.T22T,ENSG00000259075.6:ENST00000548729.5:exon2:c.C66A:p.T22T 12q21.33 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POC1B 185 1 380 32 0.0776699029126214 TRUE TRUE ENSG00000105143.12 . BCM GRCh38.p13 chr19 14954209 14954209 + G G A Silent SNP ENST00000221742.7 exon7 c.C1290T p.Y430Y exonic ENSG00000105143.12 . synonymous SNV ENSG00000105143.12:ENST00000221742.7:exon7:c.C1290T:p.Y430Y 19p13.12 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC1A6 248 0 466 53 0.102119460500963 TRUE NA ENSG00000196090.12 . BCM GRCh38.p13 chr20 42350654 42350654 + G G A Silent SNP ENST00000373187.5 exon11 c.C1839T p.P613P exonic ENSG00000196090.12 . synonymous SNV ENSG00000196090.12:ENST00000373187.5:exon11:c.C1839T:p.P613P 20q12 C3L-04479 3.313e-05 0 0 0.0002 0 1.499e-05 0 6.056e-05 rs757922932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61988819;OCCURENCE=1(large_intestine) PTPRT 123 0 299 45 0.130813953488372 TRUE TRUE ENSG00000186716.21 . BCM GRCh38.p13 chr22 23181320 23181320 + G G A Silent SNP ENST00000305877.13 exon1 c.G360A p.E120E exonic ENSG00000186716.21 . synonymous SNV ENSG00000186716.21:ENST00000305877.13:exon1:c.G360A:p.E120E 22q11.23 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BCR 115 0 221 30 0.119521912350598 TRUE TRUE ENSG00000147234.10 . BCM GRCh38.p13 chrX 107600313 107600313 + G G T Silent SNP ENST00000276185.8 exon16 c.G2373T p.V791V exonic ENSG00000147234.10 . synonymous SNV ENSG00000147234.10:ENST00000276185.8:exon16:c.G2373T:p.V791V Xq22.3 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRMPD3 50 0 92 23 0.2 TRUE TRUE ENSG00000156920.11 . BCM GRCh38.p13 chrX 136351532 136351532 + G G A Silent SNP ENST00000394143.6 exon7 c.G6813A p.T2271T exonic ENSG00000156920.11 . synonymous SNV ENSG00000156920.11:ENST00000394143.6:exon7:c.G6813A:p.T2271T Xq26.3 C3L-04479 1.209e-05 0 0 0 0 2.187e-05 0 0 rs375322857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54948883;OCCURENCE=1(large_intestine),1(skin) ADGRG4 42 0 77 13 0.144444444444444 TRUE TRUE ENSG00000154122.14 . BCM GRCh38.p13 chr5 14871077 14871077 + C C A Intron SNP NA NA NA NA intronic ENSG00000154122.14 . . . 5p15.2 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKH 88 0 113 11 0.0887096774193548 TRUE NA ENSG00000216802.1 . BCM GRCh38.p13 chr6 138692128 138692128 + T T A IGR SNP NA NA NA NA intergenic ENSG00000216802.1;ENSG00000225177.6 dist=41155;dist=2821 . . 6q24.1 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL590617.1 334 0 579 56 0.0881889763779528 TRUE NA ENSG00000095637.22 . BCM GRCh38.p13 chr10 95357029 95357029 + C C T Intron SNP NA NA NA NA intronic ENSG00000095637.22 . . . 10q24.1 C3L-04479 0.0001 0.0010 0 0 0.0006 0 0 0 rs538233401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53355522;OCCURENCE=4(prostate) SORBS1 206 0 331 32 0.0881542699724518 TRUE NA ENSG00000199015.4 . BCM GRCh38.p13 chr14 101062055 101062055 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199015.4 . . . 14q32.31 C3L-04479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR377 156 0 379 21 0.0525 TRUE NA ENSG00000183018.9 . BCM GRCh38.p13 chr17 4536883 4536883 + G G A Intron SNP NA NA NA NA intronic ENSG00000183018.9 . . . 17p13.2 C3L-04479 7.139e-05 0.0001 0 0.0001 0 4.841e-05 0 0.0002 rs200081709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPNS2 193 0 422 47 0.100213219616205 TRUE NA ENSG00000102575.13 . BCM GRCh38.p13 chr19 11577002 11577002 + C C T Intron SNP NA NA NA NA intronic ENSG00000102575.13 . . . 19p13.2 C3L-04479 0.0123 0.1395 0.0050 0.0001 0 6.094e-05 0.0011 0.0001 rs73496603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACP5 198 0 322 24 0.069364161849711 TRUE NA ENSG00000162493.16 . BCM GRCh38.p13 chr1 13614390 13614390 + G G A Missense_Mutation SNP ENST00000621990.4 exon5 c.G461A p.R154Q exonic ENSG00000162493.16 . nonsynonymous SNV ENSG00000162493.16:ENST00000621990.4:exon5:c.G461A:p.R154Q 1p36.21 C3L-00625 2.475e-05 0 0 0 0 4.5e-05 0 0 rs147446446 10.20 D D D D N N L T D 0.673 T T D 0.295 . 0.816 0.483 T T T D D D 3.960 26.700 0.999 D N 0.373 4.181 0.292 3.673 0.002 0.707 0.574 0.725 0.564 . 5.930 4.020 3.582 0.244 0.676 1.000 0.041 0.963 982 . . . ID=COSV53848850;OCCURENCE=2(skin),1(lung) PDPN 96 0 191 18 0.0861244019138756 TRUE TRUE ENSG00000115423.19 . BCM GRCh38.p13 chr2 84681477 84681477 + G G A Missense_Mutation SNP ENST00000389394.8 exon42 c.G6865A p.A2289T exonic ENSG00000115423.19 . nonsynonymous SNV ENSG00000115423.19:ENST00000389394.8:exon42:c.G6865A:p.A2289T 2p11.2 C3L-00625 0.0001 0.0014 0 0 0 0 0 0 rs528704325 2.18 T . P B . D L T N 0.316 T T T 0.165 . 0.523 0.284 T T T T T T 2.584 22.600 0.998 D N 0.275 3.651 0.360 4.085 0.990 0.487 0.590 0.547 0.564 . 4.890 4.890 6.178 0.227 0.665 1.000 0.942 0.986 594 . . . ID=COSV52859804;OCCURENCE=2(large_intestine) DNAH6 105 0 174 40 0.186915887850467 TRUE TRUE ENSG00000144028.15 . BCM GRCh38.p13 chr2 96277829 96277829 + T T A Missense_Mutation SNP ENST00000323853.10 exon40 c.A5732T p.D1911V exonic ENSG00000144028.15 . nonsynonymous SNV ENSG00000144028.15:ENST00000323853.10:exon40:c.A5732T:p.D1911V 2q11.2 C3L-00625 . . . . . . . . . 19.20 D D D D D D H T D 0.987 D D D 0.889 0.742 0.932 2.499 D D D D D D 4.308 29.600 0.995 D D 0.952 12.466 0.826 10.947 1.000 0.707 0.702 0.702 0.714 . 5.020 5.020 7.522 1.138 0.665 1.000 0.997 0.993 291 Sec63_domain . . . SNRNP200 317 0 667 142 0.175525339925834 TRUE TRUE ENSG00000163519.14 . BCM GRCh38.p13 chr3 108853665 108853665 + G G A Missense_Mutation SNP ENST00000295756.11 exon6 c.G349A p.V117I exonic ENSG00000163519.14 . nonsynonymous SNV ENSG00000163519.14:ENST00000295756.11:exon6:c.G349A:p.V117I 3q13.13 C3L-00625 2.476e-05 9.656e-05 0 0 0.0003 0 0 0 rs149418284 0.20 T T B B N N L T N 0.077 T T T 0.049 . 0.157 0.032 T T T T T T -1.801 0.001 0.617 N N -2.015 0.008 -2.125 0.007 1.000 0.554 0.588 0.547 0.564 . 5.630 -11.300 -1.931 -0.662 -0.706 0.000 0.183 0.357 672 . . . ID=COSV55469274;OCCURENCE=1(prostate) TRAT1 131 0 227 49 0.177536231884058 TRUE TRUE ENSG00000158220.14 . BCM GRCh38.p13 chr3 138472447 138472447 + G G A Missense_Mutation SNP ENST00000389567.9 exon18 c.G1825A p.V609M exonic ENSG00000158220.14 . nonsynonymous SNV ENSG00000158220.14:ENST00000389567.9:exon18:c.G1825A:p.V609M 3q22.3 C3L-00625 . . . . . . . . . 0.20 T T B B N N L T N 0.141 T T T 0.070 0.260 0.399 0.180 T T T T T T 2.104 20.100 0.988 N N -0.126 2.095 0.005 2.378 1.000 0.615 0.610 0.659 0.527 . 4.600 3.680 1.472 1.176 0.676 1.000 0.998 0.906 355 . . . . ESYT3 383 0 765 136 0.150943396226415 TRUE TRUE ENSG00000113946.3 . BCM GRCh38.p13 chr3 190388234 190388234 + C C G Missense_Mutation SNP ENST00000264734.2 exon1 c.C115G p.Q39E exonic ENSG00000113946.3 . nonsynonymous SNV ENSG00000113946.3:ENST00000264734.2:exon1:c.C115G:p.Q39E 3q28 C3L-00625 . . . . . . . . . 5.20 D D P B N N N D N 0.361 T D D 0.161 0.152 0.784 0.118 T T T T T T 0.219 3.338 0.803 N N -0.954 0.455 -0.978 0.517 0.918 0.554 0.588 0.547 0.613 . 5.910 0.381 -0.026 0.130 -0.257 0.000 0.007 0.011 755 . . . . CLDN16 235 0 560 91 0.139784946236559 TRUE TRUE ENSG00000145536.15 . BCM GRCh38.p13 chr5 5239253 5239253 + A A G Missense_Mutation SNP ENST00000274181.7 exon15 c.A2257G p.T753A exonic ENSG00000145536.15 . nonsynonymous SNV ENSG00000145536.15:ENST00000274181.7:exon15:c.A2257G:p.T753A 5p15.32 C3L-00625 4.38e-05 0 0 0 0 0 0 0.0004 rs752177133 0.20 T T B B N N N T N 0.085 T T T 0.078 0.587 0.355 0.162 T T T T T T 0.883 10.260 0.318 N N -1.540 0.070 -1.491 0.111 0.999 0.644 0.588 0.688 0.564 . 5.850 -4.170 0.905 -0.426 -0.582 0.983 0.281 0.571 933 ADAM-TS_Spacer_1 . . . ADAMTS16 36 0 61 6 0.0895522388059701 TRUE NA ENSG00000043462.12 . BCM GRCh38.p13 chr5 170297587 170297587 + G G A Missense_Mutation SNP ENST00000046794.10 exon1 c.C25T p.R9C exonic ENSG00000043462.12 . nonsynonymous SNV ENSG00000043462.12:ENST00000046794.10:exon1:c.C25T:p.R9C 5q35.1 C3L-00625 1.037e-05 0 0 0 0 1.837e-05 0 0 rs752977011 13.20 T T D P D D M T D 0.683 T T D 0.202 0.384 0.820 0.828 T D D D D D 3.980 26.800 0.999 D D 0.535 5.322 0.574 5.912 1.000 0.497 0.522 0.547 0.542 . 5.440 5.440 5.833 1.176 0.676 1.000 1.000 0.996 613 . . . ID=COSV50455905;OCCURENCE=1(prostate) LCP2 71 0 188 29 0.133640552995392 TRUE TRUE ENSG00000118432.12 . BCM GRCh38.p13 chr6 88144390 88144390 + C C A Missense_Mutation SNP ENST00000369501.2 exon2 c.G885T p.M295I exonic ENSG00000118432.12 . nonsynonymous SNV ENSG00000118432.12:ENST00000369501.2:exon2:c.G885T:p.M295I 6q15 C3L-00625 . . . . . . . . . 5.20 T T B B D D N T N 0.320 T T T 0.171 0.494 0.892 . T T T T D D 1.509 15.790 0.865 D N -0.246 1.751 -0.027 2.270 0.363 0.554 0.546 0.602 0.564 . 6.050 5.110 2.549 1.026 0.599 1.000 0.958 0.773 442 GPCR,_rhodopsin-like,_7TM . . . CNR1 201 0 360 82 0.18552036199095 TRUE TRUE ENSG00000065675.15 . BCM GRCh38.p13 chr10 6515059 6515059 + T T A Missense_Mutation SNP ENST00000263125.10 exon2 c.A77T p.N26I exonic ENSG00000065675.15 . nonsynonymous SNV ENSG00000065675.15:ENST00000263125.10:exon2:c.A77T:p.N26I 10p15.1 C3L-00625 . . . . . . . . . 9.20 D D P B D D L T D 0.849 T T D 0.279 0.708 0.750 0.576 T T T T D D 2.758 22.900 0.988 D N -0.054 2.324 -0.026 2.274 1.000 0.706 0.590 0.710 0.621 . 5.200 1.560 2.172 1.138 0.665 1.000 0.944 0.893 911 . . . . PRKCQ 209 0 415 62 0.129979035639413 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-00625 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 265 0 483 91 0.158536585365854 TRUE TRUE ENSG00000170456.16 . BCM GRCh38.p13 chr12 31479678 31479678 + C C T Missense_Mutation SNP ENST00000389082.10 exon3 c.G815A p.R272Q exonic ENSG00000170456.16 . nonsynonymous SNV ENSG00000170456.16:ENST00000389082.10:exon3:c.G815A:p.R272Q 12p11.21 C3L-00625 2.183e-05 0 0 0.0003 0 0 0 0 rs765700922 2.20 T T B B N N L T D 0.201 T T T 0.068 . 0.357 0.644 T T T T T D 1.617 16.480 0.995 N N -0.687 0.834 -0.653 0.968 1.000 0.507 0.658 0.567 0.636 . 4.560 3.680 1.131 1.026 0.599 0.000 0.066 0.290 951 Tripartite_DENN_domain;cDENN_domain . . . DENND5B 35 0 102 20 0.163934426229508 TRUE NA ENSG00000135480.16 . BCM GRCh38.p13 chr12 52233465 52233465 + G G A Missense_Mutation SNP ENST00000331817.6 exon1 c.G169A p.G57S exonic ENSG00000135480.16 . nonsynonymous SNV ENSG00000135480.16:ENST00000331817.6:exon1:c.G169A:p.G57S 12q13.13 C3L-00625 . . . . . . . . . 3.19 T D B B . N L T D 0.041 T T D 0.178 0.342 0.365 0.279 T T T T T T 0.575 7.272 0.993 N N -0.706 0.803 -0.768 0.803 1.000 0.733 0.563 0.619 0.622 . 4.480 2.650 -0.688 -0.173 -0.162 0.000 0.001 0.001 749 Keratin_type_II_head . . . KRT7 162 2 449 117 0.206713780918728 TRUE TRUE ENSG00000198838.13 . BCM GRCh38.p13 chr15 33697980 33697980 + G G C Missense_Mutation SNP ENST00000634891.1 exon40 c.G6233C p.G2078A exonic ENSG00000198838.13 . nonsynonymous SNV ENSG00000198838.13:ENST00000634891.1:exon40:c.G6233C:p.G2078A 15q14 C3L-00625 . . . . . . . . . 16.19 D . B B D D M D D 0.554 D D D 0.561 0.633 0.804 0.358 T D D D D D 3.459 24.600 0.994 D D 0.222 3.402 0.390 4.287 1.000 0.447 0.563 0.547 0.530 . 5.100 5.100 10.003 1.176 0.676 1.000 0.994 0.963 955 RIH_domain . . . RYR3 162 0 295 45 0.132352941176471 TRUE TRUE ENSG00000196557.13 . BCM GRCh38.p13 chr16 1211566 1211566 + G G A Missense_Mutation SNP ENST00000348261.11 exon23 c.G4436A p.R1479H exonic ENSG00000196557.13 . nonsynonymous SNV ENSG00000196557.13:ENST00000348261.11:exon23:c.G4436A:p.R1479H 16p13.3 C3L-00625 1.826e-05 0 0 0.0001 0 0 0 6.344e-05 rs776023990 17.20 D D D D D N M D D 0.531 D D D 0.602 0.618 0.951 . T D D D D D 4.214 28.800 0.999 D N 0.525 5.238 0.458 4.798 0.005 0.696 0.547 0.723 0.563 . 3.990 3.990 1.639 1.074 0.618 1.000 1.000 0.993 934 Ion_transport_domain . . ID=COSV62000838;OCCURENCE=1(stomach),1(pancreas) CACNA1H 88 0 340 27 0.0735694822888283 TRUE TRUE ENSG00000103249.18 . BCM GRCh38.p13 chr16 1455768 1455768 + C C T Missense_Mutation SNP ENST00000382745.9 exon11 c.G944A p.G315D exonic ENSG00000103249.18 . nonsynonymous SNV ENSG00000103249.18:ENST00000382745.9:exon11:c.G944A:p.G315D 16p13.3 C3L-00625 . . . . . . . . . 20.20 D D D D D D M D D 0.873 D D D 0.894 0.703 0.960 1.777 D D D D D D 3.264 24.000 0.998 D D 0.579 5.716 0.461 4.825 1.000 0.732 0.744 0.723 0.714 . 5.130 5.130 4.679 1.026 0.549 1.000 0.951 0.183 783 . . . . CLCN7 307 0 677 107 0.136479591836735 TRUE NA ENSG00000172840.7 . BCM GRCh38.p13 chr16 66884385 66884385 + G G A Missense_Mutation SNP ENST00000311765.4 exon2 c.G101A p.R34K exonic ENSG00000172840.7 . nonsynonymous SNV ENSG00000172840.7:ENST00000311765.4:exon2:c.G101A:p.R34K 16q22.1 C3L-00625 . . . . . . . . . 3.20 D T B B N N M T N 0.250 T T T 0.048 0.351 0.676 0.274 T T T T T T 1.975 19.070 0.955 D N -0.478 1.220 -0.391 1.388 0.999 0.707 0.725 0.725 0.636 . 5.420 3.430 3.474 1.176 0.676 0.970 0.093 0.952 87 . . . . PDP2 108 0 330 51 0.133858267716535 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674187 7674187 + T T A Missense_Mutation SNP ENST00000269305.8 exon7 c.A776T p.D259V exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.A776T:p.D259V 17p13.1 C3L-00625 . . . . . . . . . 15.20 D D P P D D M D N 0.696 D D D 0.742 0.567 0.975 0.450 T D D D D D 3.733 25.500 0.993 D N 0.305 3.804 0.259 3.489 0.010 0.722 0.702 0.725 0.735 . 4.520 4.520 3.211 1.136 0.665 1.000 0.997 0.678 432 p53,_DNA-binding_domain . . ID=COSV52679505;OCCURENCE=2(breast),2(liver),1(large_intestine),1(central_nervous_system),3(ovary),1(haematopoietic_and_lymphoid_tissue),2(stomach),1(soft_tissue),4(urinary_tract),3(pancreas),2(skin),5(lung) TP53 216 0 394 78 0.165254237288136 TRUE TRUE ENSG00000176845.13 . BCM GRCh38.p13 chr17 83085313 83085313 + C C A Missense_Mutation SNP ENST00000320095.12 exon2 c.C546A p.H182Q exonic ENSG00000176845.13 . nonsynonymous SNV ENSG00000176845.13:ENST00000320095.12:exon2:c.C546A:p.H182Q 17q25.3 C3L-00625 . . . . . . . . . 3.19 T T D P N N L . D 0.375 T T T 0.125 0.150 0.151 0.594 T T T T D T -0.140 0.684 0.836 N N -0.883 0.542 -1.095 0.380 1.000 0.707 0.693 0.723 0.714 . 4.100 -3.360 -0.217 -0.797 -1.606 0.000 0.000 0.000 . . . . . METRNL 13 0 27 9 0.25 TRUE TRUE ENSG00000063177.13 . BCM GRCh38.p13 chr19 48616112 48616112 + A A G Missense_Mutation SNP ENST00000549920.6 exon5 c.T388C p.S130P exonic ENSG00000063177.13 . nonsynonymous SNV ENSG00000063177.13:ENST00000549920.6:exon5:c.T388C:p.S130P 19q13.33 C3L-00625 . . . . . . . . . 14.19 D D P P D D M . D 0.404 T T D 0.389 0.695 0.591 1.044 T D D D D D 3.577 25.000 0.998 D D 0.225 3.418 0.238 3.377 1.000 0.722 0.696 0.699 0.735 . 5.250 4.170 1.175 1.307 0.686 0.999 1.000 0.987 735 Ribosomal_protein_L18e/L15P . . . RPL18 180 0 432 93 0.177142857142857 TRUE TRUE ENSG00000126945.9 . BCM GRCh38.p13 chrX 101412622 101412622 + A A T Missense_Mutation SNP ENST00000316594.6 exon2 c.A634T p.R212W exonic ENSG00000126945.9 . nonsynonymous SNV ENSG00000126945.9:ENST00000316594.6:exon2:c.A634T:p.R212W Xq22.1 C3L-00625 . . . . . . . . . 15.19 D D D D D D M T D 0.614 T T D 0.370 0.450 0.910 2.776 D D D T D D 4.027 27.200 0.999 D . . . . . 1.000 . . . . . 4.880 4.880 3.385 1.290 0.751 1.000 1.000 0.997 125 . . . . HNRNPH2 203 0 457 96 0.173598553345389 TRUE TRUE ENSG00000204099.11 . BCM GRCh38.p13 chr2 241814523 241814523 + C C T Silent SNP ENST00000391969.6 exon3 c.C39T p.F13F exonic ENSG00000204099.11 . synonymous SNV ENSG00000204099.11:ENST00000391969.6:exon3:c.C39T:p.F13F 2q37.3 C3L-00625 . . . . . . . . rs920176159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57990448;OCCURENCE=1(large_intestine),1(skin),1(lung) NEU4 176 0 439 57 0.11491935483871 TRUE TRUE ENSG00000121871.4 . BCM GRCh38.p13 chr3 165187939 165187939 + C C T Silent SNP ENST00000475390.2 exon2 c.G2892A p.P964P exonic ENSG00000121871.4 . synonymous SNV ENSG00000121871.4:ENST00000475390.2:exon2:c.G2892A:p.P964P 3q26.1 C3L-00625 8.254e-06 0 0 0 0 1.502e-05 0 0 rs781561672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53850899;OCCURENCE=1(large_intestine),1(endometrium) SLITRK3 82 0 165 35 0.175 TRUE TRUE ENSG00000159788.19 . BCM GRCh38.p13 chr4 3317952 3317952 + G G A Silent SNP ENST00000344733.9 exon2 c.G1782A p.P594P exonic ENSG00000159788.19 . synonymous SNV ENSG00000159788.19:ENST00000344733.9:exon2:c.G1782A:p.P594P 4p16.3 C3L-00625 8.284e-06 0 0 0 0 1.506e-05 0 0 rs751083722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS12 157 0 284 45 0.13677811550152 TRUE NA ENSG00000188848.16 . BCM GRCh38.p13 chr4 42143855 42143855 + G G A Silent SNP ENST00000502486.6 exon3 c.C627T p.N209N exonic ENSG00000188848.16 . synonymous SNV ENSG00000188848.16:ENST00000502486.6:exon3:c.C627T:p.N209N 4p13 C3L-00625 1.882e-05 0.0001 0 0 0 0 0 0.0001 rs574971489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV72468915;OCCURENCE=1(large_intestine),2(upper_aerodigestive_tract),1(endometrium) BEND4 29 0 92 15 0.14018691588785 TRUE TRUE ENSG00000183072.10 . BCM GRCh38.p13 chr5 173232908 173232908 + C C A Silent SNP ENST00000329198.5 exon2 c.G636T p.P212P exonic ENSG00000183072.10 . synonymous SNV ENSG00000183072.10:ENST00000329198.5:exon2:c.G636T:p.P212P 5q35.1 C3L-00625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NKX2-5 348 0 820 147 0.152016546018614 NA TRUE ENSG00000196787.3 . BCM GRCh38.p13 chr6 27133338 27133338 + C C T Silent SNP ENST00000359193.3 exon1 c.C267T p.R89R exonic ENSG00000196787.3 . synonymous SNV ENSG00000196787.3:ENST00000359193.3:exon1:c.C267T:p.R89R 6p22.1 C3L-00625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . H2AC11 383 1 791 83 0.0949656750572082 NA TRUE ENSG00000105877.18 . BCM GRCh38.p13 chr7 21786692 21786692 + G G A Silent SNP ENST00000409508.8 exon59 c.G9666A p.V3222V exonic ENSG00000105877.18 . synonymous SNV ENSG00000105877.18:ENST00000409508.8:exon59:c.G9666A:p.V3222V 7p15.3 C3L-00625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH11 150 0 255 55 0.17741935483871 TRUE TRUE ENSG00000086288.12 . BCM GRCh38.p13 chr7 37862069 37862069 + G G A Silent SNP ENST00000199447.9 exon7 c.G312A p.P104P exonic ENSG00000086288.12 . synonymous SNV ENSG00000086288.12:ENST00000199447.9:exon7:c.G312A:p.P104P 7p14.1 C3L-00625 3.31e-05 0.0002 0 0.0002 0 0 0 0 rs536359204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52246470;OCCURENCE=1(large_intestine),1(pancreas),2(endometrium) NME8 277 0 472 93 0.164601769911504 TRUE TRUE ENSG00000167034.10 . BCM GRCh38.p13 chr8 23681332 23681332 + C C T Silent SNP ENST00000380871.5 exon2 c.G594A p.P198P exonic ENSG00000167034.10 . synonymous SNV ENSG00000167034.10:ENST00000380871.5:exon2:c.G594A:p.P198P 8p21.2 C3L-00625 0.0008 0.0088 8.637e-05 0 0 0 0 0 rs35675040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66512512;OCCURENCE=2(large_intestine) NKX3-1 165 0 296 64 0.177777777777778 TRUE TRUE ENSG00000179698.14 . BCM GRCh38.p13 chr8 144109157 144109157 + C C T Silent SNP ENST00000323662.9 exon4 c.C987T p.F329F exonic ENSG00000179698.14 . synonymous SNV ENSG00000179698.14:ENST00000323662.9:exon4:c.C987T:p.F329F 8q24.3 C3L-00625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR97 172 0 426 90 0.174418604651163 TRUE TRUE ENSG00000148219.16 . BCM GRCh38.p13 chr9 116620360 116620360 + G G A Silent SNP ENST00000313400.8 exon18 c.C3156T p.S1052S exonic ENSG00000148219.16 . synonymous SNV ENSG00000148219.16:ENST00000313400.8:exon18:c.C3156T:p.S1052S 9q33.1 C3L-00625 0.0044 0.0008 0.0021 0 0.0008 0.0036 0.0022 0.0156 rs143407265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56011825;OCCURENCE=1(oesophagus) ASTN2 252 0 508 76 0.13013698630137 TRUE TRUE ENSG00000165458.14 . BCM GRCh38.p13 chr11 72231599 72231599 + C C T Silent SNP ENST00000298229.7 exon13 c.C1599T p.G533G exonic ENSG00000165458.14 . synonymous SNV ENSG00000165458.14:ENST00000298229.7:exon13:c.C1599T:p.G533G 11q13.4 C3L-00625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INPPL1 167 0 341 72 0.174334140435835 TRUE TRUE ENSG00000170967.5 . BCM GRCh38.p13 chr11 104036843 104036843 + C C T Silent SNP ENST00000302259.5 exon1 c.C21T p.C7C exonic ENSG00000170967.5 . synonymous SNV ENSG00000170967.5:ENST00000302259.5:exon1:c.C21T:p.C7C 11q22.3 C3L-00625 8.41e-06 0 8.672e-05 0 0 0 0 0 rs777102812 2.12 D . . . . D . T N . T T . 0.174 0.240 0.110 . . . T T T T 0.339 4.744 0.910 N N -1.078 0.326 -1.222 0.265 0.995 0.487 0.574 0.547 0.564 . 5.080 -10.200 0.120 -2.047 -0.800 0.980 0.886 0.837 912 . . . ID=COSV56395204;OCCURENCE=1(large_intestine),1(kidney) DDI1 103 0 203 56 0.216216216216216 TRUE TRUE ENSG00000141431.12 . BCM GRCh38.p13 chr18 33746316 33746316 + A A C Silent SNP ENST00000269197.12 exon12 c.A6468C p.T2156T exonic ENSG00000141431.12 . synonymous SNV ENSG00000141431.12:ENST00000269197.12:exon12:c.A6468C:p.T2156T 18q12.1 C3L-00625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASXL3 173 0 303 52 0.146478873239437 TRUE TRUE ENSG00000078747.15 . BCM GRCh38.p13 chr20 34445353 34445353 + G G A Silent SNP ENST00000665346.1 exon12 c.G1155A p.T385T exonic ENSG00000078747.15 . synonymous SNV ENSG00000078747.15:ENST00000665346.1:exon12:c.G1155A:p.T385T 20q11.22 C3L-00625 9.061e-05 0 0.0003 0 0 8.991e-05 0 6.056e-05 rs201221876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITCH 241 0 522 181 0.2574679943101 TRUE NA ENSG00000115592.11 . BCM GRCh38.p13 chr2 218827890 218827890 + G G A Intron SNP NA NA NA NA intronic ENSG00000115592.11 . . . 2q35 C3L-00625 8.492e-06 0 0 0 0 1.534e-05 0 0 rs753669652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKAG3 330 0 633 111 0.149193548387097 TRUE NA ENSG00000204529.4 . BCM GRCh38.p13 chr11 76716427 76716427 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000204529.4 . . . 11q13.5 C3L-00625 0.0261 0.0625 0.0111 0 . 0.0066 0.0603 0.0323 rs56136160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GUCY2EP 97 0 171 27 0.136363636363636 TRUE NA ENSG00000169446.5 . BCM GRCh38.p13 chrX 135973927 135973927 + G G C 5'UTR SNP NA NA NA NA UTR5 ENSG00000169446.5 ENST00000305963.2:c.-252C>G . . Xq26.3 C3L-00625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMGT1 352 0 818 101 0.109902067464635 TRUE NA ENSG00000131697.18 . BCM GRCh38.p13 chr1 5877103 5877103 + G G A Missense_Mutation SNP ENST00000378156.9 exon20 c.C2807T p.T936M exonic ENSG00000131697.18 . nonsynonymous SNV ENSG00000131697.18:ENST00000378156.9:exon20:c.C2807T:p.T936M 1p36.31 C3N-03754 0.0005 0 0.0050 0 0 4.948e-05 0 0 rs201074950 2.20 T T P B N N L D N 0.185 T T D 0.294 . 0.862 0.084 T T T T T T 1.157 13.290 0.955 N N -0.611 0.967 -0.763 0.810 0.290 0.646 0.602 0.645 0.655 . 4.670 0.156 0.073 -0.105 0.676 0.000 0.000 0.002 952 . . . . NPHP4 85 0 59 6 0.0923076923076923 TRUE NA ENSG00000163053.11 . BCM GRCh38.p13 chr2 230045936 230045936 + A A G Missense_Mutation SNP ENST00000295190.9 exon4 c.T1190C p.F397S exonic ENSG00000163053.11 . nonsynonymous SNV ENSG00000163053.11:ENST00000295190.9:exon4:c.T1190C:p.F397S 2q36.3 C3N-03754 . . . . . . . . . 6.20 D D P P N N L T N 0.493 T T D 0.335 0.688 0.627 1.454 T T T T D T 3.996 26.900 0.998 D D 0.193 3.272 0.212 3.242 0.456 0.638 0.670 0.659 0.564 . 4.820 4.820 5.094 1.312 0.756 0.998 0.981 0.998 952 Major_facilitator_superfamily_domain . . . SLC16A14 91 0 49 5 0.0925925925925926 TRUE TRUE ENSG00000163930.10 . BCM GRCh38.p13 chr3 52404550 52404550 + G G A Nonsense_Mutation SNP ENST00000460680.6 exon12 c.C1153T p.R385X exonic ENSG00000163930.10 . stopgain ENSG00000163930.10:ENST00000460680.6:exon12:c.C1153T:p.R385X 3p21.1 C3N-03754 . . . . . . . . . 5.6 . . . . D A . . . 0.959 . . . . . . . . . D D . . 6.594 36 0.998 D N 0.734 7.615 0.599 6.215 1.000 0.707 0.698 0.698 0.714 . 5.540 4.660 3.061 1.176 0.676 1.000 1.000 0.998 68 Peptidase_C12,_ubiquitin_carboxyl-terminal_hydrolase . . ID=COSV56230370;OCCURENCE=1(large_intestine),1(stomach),1(kidney),1(pancreas),2(lung),4(eye) BAP1 385 0 272 54 0.165644171779141 TRUE TRUE ENSG00000185049.16 . BCM GRCh38.p13 chr4 1989747 1989747 + G G T Missense_Mutation SNP ENST00000382882.9 exon3 c.C505A p.P169T exonic ENSG00000185049.16 . nonsynonymous SNV ENSG00000185049.16:ENST00000382882.9:exon3:c.C505A:p.P169T 4p16.3 C3N-03754 . . . . . . . . . 15.20 D D D D D D L T D 0.939 T T D 0.629 0.512 0.926 1.991 D T D D D D 4.053 27.400 0.998 D D 0.880 10.552 0.835 11.251 1.000 0.707 0.725 0.571 0.714 . 4.960 4.960 9.836 1.152 0.650 1.000 0.997 0.993 759 Hepatitis_delta_antigen_(HDAg)_domain . . . NELFA 132 0 88 20 0.185185185185185 TRUE TRUE ENSG00000132842.14 . BCM GRCh38.p13 chr5 78128070 78128070 + G G A Missense_Mutation SNP ENST00000255194.11 exon17 c.C1928T p.A643V exonic ENSG00000132842.14 . nonsynonymous SNV ENSG00000132842.14:ENST00000255194.11:exon17:c.C1928T:p.A643V 5q14.1 C3N-03754 4.948e-05 0.0004 0 0 0 2.999e-05 0 0 rs769622520 11.20 T D P B D D M T D 0.795 T T D 0.404 . 0.415 0.067 T D T T D D 3.404 24.400 0.995 D D 0.651 6.483 0.677 7.351 1.000 0.758 0.630 0.692 0.584 . 5.910 5.040 10.003 1.176 0.676 1.000 1.000 0.998 893 . . . . AP3B1 409 1 205 28 0.120171673819742 TRUE NA ENSG00000081842.18 . BCM GRCh38.p13 chr5 140830027 140830027 + C C T Missense_Mutation SNP ENST00000529310.6 exon1 c.C1936T p.R646W exonic ENSG00000081842.18 . nonsynonymous SNV ENSG00000081842.18:ENST00000529310.6:exon1:c.C1936T:p.R646W 5q31.3 C3N-03754 2.493e-05 0 0 0.0001 0 3.025e-05 0 0 rs782267488 8.19 D D D P U N M T D 0.467 T T D 0.111 0.591 0.688 1.577 . T T T D D 3.201 23.900 0.997 N N -0.083 2.230 -0.348 1.468 0.000 0.581 0.574 0.578 0.605 . 3.980 1.960 1.629 0.941 0.327 0.002 0.005 0.336 30 Cadherin-like . . . PCDHA6 493 0 409 70 0.146137787056367 TRUE NA ENSG00000015676.18 . BCM GRCh38.p13 chr7 44490599 44490599 + A A C Translation_Start_Site SNP ENST00000355451.8 exon1 c.T2G p.M1? exonic ENSG00000015676.18 . startloss ENSG00000015676.18:ENST00000355451.8:exon1:c.T2G:p.M1? 7p13 C3N-03754 . . . . . . . . rs373463207 9.18 D D P P D D . T N 0.932 T T D 0.434 0.988 0.807 . . T D D D D 3.761 25.700 0.969 N N 0.382 4.231 0.317 3.817 1.000 0.468 0.504 0.504 0.273 . 4.440 4.440 5.685 1.298 0.756 1.000 0.262 0.028 783 . . . . NUDCD3 130 0 125 28 0.183006535947712 TRUE NA ENSG00000085563.15 . BCM GRCh38.p13 chr7 87545961 87545961 + C C T Missense_Mutation SNP ENST00000622132.5 exon15 c.G1789A p.V597I exonic ENSG00000085563.15 . nonsynonymous SNV ENSG00000085563.15:ENST00000622132.5:exon15:c.G1789A:p.V597I 7q21.12 C3N-03754 0.0001 0 0 0.0001 0 1.499e-05 0 0.0007 rs199931362 5.19 T T B B D D N D N 0.139 T T D 0.326 0.389 0.375 0.169 T . T T T T 0.887 10.300 0.995 D N -0.277 1.672 -0.094 2.064 0.038 0.638 0.588 0.618 0.668 . 5.730 5.730 0.177 0.129 -0.171 0.035 0.989 0.919 500 ABC_transporter-like;AAA+_ATPase_domain . . ID=COSV55952252;OCCURENCE=1(large_intestine),1(central_nervous_system),1(stomach) ABCB1 251 0 142 14 0.0897435897435897 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21974696 21974696 + - NA T Nonsense_Mutation SNP ENST00000304494.9 exon1 c.131dupA p.Y44* exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon1:c.131dupA:p.Y44* 9p21.3 C3N-03754 8.457e-06 0 0 0 0 1.547e-05 0 0 rs730881673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A NA NA NA NA NA NA NA ENSG00000106772.18 . BCM GRCh38.p13 chr9 76636481 76636481 + G G T Missense_Mutation SNP ENST00000376718.8 exon15 c.C9040A p.P3014T exonic ENSG00000106772.18 . nonsynonymous SNV ENSG00000106772.18:ENST00000376718.8:exon15:c.C9040A:p.P3014T 9q21.2 C3N-03754 . . . . . . . . . 17.20 D D D D D D M T D 0.836 D D D 0.573 0.644 0.582 0.480 T T D D D D 4.110 27.800 0.997 D D 0.628 6.221 0.633 6.663 1.000 0.706 0.588 0.659 0.613 . 4.790 4.790 9.388 1.083 0.676 1.000 0.999 0.992 945 CRAL-TRIO_lipid_binding_domain . . . PRUNE2 135 0 42 7 0.142857142857143 TRUE TRUE ENSG00000150275.18 . BCM GRCh38.p13 chr10 54317293 54317293 + G G A Missense_Mutation SNP ENST00000320301.10 exon8 c.C854T p.A285V exonic ENSG00000150275.18 . nonsynonymous SNV ENSG00000150275.18:ENST00000320301.10:exon8:c.C854T:p.A285V 10q21.1 C3N-03754 1.649e-05 0 0 0 0 2.999e-05 0 0 rs768148484 1.19 T T B B . N N T N 0.194 T T T 0.088 0.277 0.583 0.028 T T T T T D 1.903 18.510 0.945 N N -0.299 1.616 -0.165 1.871 0.000 0.554 0.574 0.574 0.621 . 4.770 3.790 0.427 1.176 0.674 0.007 0.997 1.000 921 . . . ID=COSV57374240;OCCURENCE=1(endometrium) PCDH15 398 1 270 26 0.0878378378378378 TRUE TRUE ENSG00000165443.12 . BCM GRCh38.p13 chr10 59245578 59245578 + G G T Missense_Mutation SNP ENST00000373880.9 exon5 c.G1118T p.S373I exonic ENSG00000165443.12 . nonsynonymous SNV ENSG00000165443.12:ENST00000373880.9:exon5:c.G1118T:p.S373I 10q21.1 C3N-03754 . . . . . . . . . 14.20 D D D D D D L T N 0.724 T T D 0.486 0.528 0.765 1.358 D T D D D D 3.955 26.700 0.995 D D 0.801 8.797 0.810 10.432 1.000 0.487 0.574 0.547 0.564 . 5.380 5.380 9.998 1.176 0.676 1.000 1.000 0.999 982 . . . . PHYHIPL 73 0 26 9 0.257142857142857 TRUE TRUE ENSG00000205030.1 . BCM GRCh38.p13 chr11 55827567 55827567 + G G A Missense_Mutation SNP ENST00000378397.1 exon1 c.G349A p.V117M exonic ENSG00000205030.1 . nonsynonymous SNV ENSG00000205030.1:ENST00000378397.1:exon1:c.G349A:p.V117M 11q12.1 C3N-03754 1.649e-05 0 8.666e-05 0 0 0 0 6.061e-05 rs202214388 4.20 D D B B D N M T N 0.114 T T T 0.080 0.246 0.486 0.013 T T T T T T 1.792 17.670 0.992 N N -0.215 1.836 -0.236 1.702 0.000 0.487 0.574 0.574 0.564 . 4.650 2.750 1.776 0.068 -0.237 0.012 0.256 0.821 162 GPCR,_rhodopsin-like,_7TM . . . OR5L2 283 0 172 42 0.196261682242991 NA TRUE ENSG00000110448.11 . BCM GRCh38.p13 chr11 61118254 61118254 + G G T Missense_Mutation SNP ENST00000347785.8 exon3 c.G174T p.M58I exonic ENSG00000110448.11 . nonsynonymous SNV ENSG00000110448.11:ENST00000347785.8:exon3:c.G174T:p.M58I 11q12.2 C3N-03754 . . . . . . . . . 1.20 D T B B N N L T N 0.118 T T T 0.042 0.630 0.278 0.319 T T T T T T -1.475 0.001 0.911 N N -1.626 0.050 -1.786 0.036 0.992 0.554 0.588 0.547 0.542 . 3.990 -7.990 -7.697 -0.921 -0.113 0.000 0.108 0.358 297 SRCR_domain;SRCR-like_domain . . . CD5 399 2 264 62 0.190184049079755 TRUE TRUE ENSG00000168014.16 . BCM GRCh38.p13 chr11 74103367 74103367 + C C T Missense_Mutation SNP ENST00000334126.11 exon14 c.G2344A p.V782I exonic ENSG00000168014.16 . nonsynonymous SNV ENSG00000168014.16:ENST00000334126.11:exon14:c.G2344A:p.V782I 11q13.4 C3N-03754 0.0008 0.0093 8.64e-05 0 0 0 0 0 rs147717518 0.19 T T B B N N L T N 0.150 T T . 0.012 . 0.102 0.079 T T T T T T -0.223 0.456 0.706 N N -1.212 0.219 -1.222 0.265 0.002 0.563 0.654 0.609 0.636 . 5.600 -0.535 -0.154 -0.180 -0.153 0.000 0.020 0.008 461 . . . . C2CD3 310 0 236 23 0.0888030888030888 TRUE NA ENSG00000183560.9 . BCM GRCh38.p13 chr11 94306692 94306692 + G G C Missense_Mutation SNP ENST00000328458.5 exon2 c.G318C p.W106C exonic ENSG00000183560.9 . nonsynonymous SNV ENSG00000183560.9:ENST00000328458.5:exon2:c.G318C:p.W106C 11q21 C3N-03754 . . . . . . . . . 18.20 D D D D D D H T D 0.963 D D D 0.882 0.934 0.776 0.198 T D D D D D 4.445 31 0.992 D D 0.919 11.549 0.848 11.705 1.000 0.578 0.590 0.608 0.564 . 4.750 4.750 9.638 1.172 0.676 1.000 0.970 0.881 749 Folate_receptor-like . . . IZUMO1R 374 1 335 29 0.0796703296703297 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-03754 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 279 0 136 25 0.15527950310559 TRUE TRUE ENSG00000111602.12 . BCM GRCh38.p13 chr12 56423687 56423687 + G G C Missense_Mutation SNP ENST00000553532.6 exon17 c.C1987G p.R663G exonic ENSG00000111602.12 . nonsynonymous SNV ENSG00000111602.12:ENST00000553532.6:exon17:c.C1987G:p.R663G 12q13.3 C3N-03754 . . . . . . . . . 0.20 T T B B N N N T N 0.073 T T T 0.038 0.248 0.148 0.150 T T T T T T 0.268 3.911 0.270 N N -1.641 0.047 -1.581 0.081 0.002 0.707 0.725 0.725 0.636 . 5.610 1.690 0.713 -1.278 -1.790 0.001 0.050 0.071 140 . . . . TIMELESS 210 1 128 45 0.260115606936416 TRUE NA ENSG00000090060.18 . BCM GRCh38.p13 chr14 96537020 96537020 + T T C Missense_Mutation SNP ENST00000216277.12 exon12 c.T1075C p.S359P exonic ENSG00000090060.18 . nonsynonymous SNV ENSG00000090060.18:ENST00000216277.12:exon12:c.T1075C:p.S359P 14q32.2 C3N-03754 . . . . . . . . . 7.19 T T B B D D L . N 0.524 T T T 0.167 0.561 0.535 1.506 D T T T D D 2.783 23.000 0.993 D D 0.007 2.536 0.166 3.022 1.000 0.732 0.725 0.710 0.728 . 5.010 5.010 4.699 1.138 0.665 1.000 1.000 1.000 963 Poly(A)_polymerase,_central_domain . . . PAPOLA 185 0 40 4 0.0909090909090909 TRUE TRUE ENSG00000177548.13 . BCM GRCh38.p13 chr16 28904986 28904986 + T T C Missense_Mutation SNP ENST00000358201.9 exon13 c.A1667G p.D556G exonic ENSG00000177548.13 . nonsynonymous SNV ENSG00000177548.13:ENST00000358201.9:exon13:c.A1667G:p.D556G 16p11.2 C3N-03754 . . . . . . . . rs547755398 7.20 T D D D N N L T D 0.390 T T D 0.133 0.193 0.650 0.272 T T T T D T 3.133 23.700 0.985 D N 0.021 2.588 0.082 2.663 0.048 0.707 0.702 0.723 0.714 . 4.490 4.490 3.101 1.127 0.595 0.995 0.955 0.612 375 . . . . RABEP2 175 0 161 27 0.143617021276596 TRUE NA ENSG00000103494.14 . BCM GRCh38.p13 chr16 53687950 53687950 + T T A Missense_Mutation SNP ENST00000647211.2 exon5 c.A545T p.D182V exonic ENSG00000103494.14 . nonsynonymous SNV ENSG00000103494.14:ENST00000647211.2:exon5:c.A545T:p.D182V 16q12.2 C3N-03754 . . . . . . . . . 10.20 D D B B N D L D D 0.359 T T D 0.422 0.296 0.615 0.189 T T D T D D 2.799 23.000 0.976 D N -0.330 1.543 -0.188 1.814 0.956 0.615 0.588 0.659 0.655 . 5.380 4.290 2.526 1.138 0.665 0.964 0.752 0.917 303 . . . . RPGRIP1L 274 0 116 17 0.12781954887218 TRUE TRUE ENSG00000157423.18 . BCM GRCh38.p13 chr16 71020226 71020226 + C C A Missense_Mutation SNP ENST00000393567.7 exon22 c.G3278T p.G1093V exonic ENSG00000157423.18 . nonsynonymous SNV ENSG00000157423.18:ENST00000393567.7:exon22:c.G3278T:p.G1093V 16q22.2 C3N-03754 . . . . . . . . . 0.16 T . . . U N L T N 0.239 T T T 0.065 0.415 0.113 . T T T T T . 0.310 4.408 0.771 N N -0.799 0.656 -0.934 0.574 1.000 0.534 0.586 0.686 0.542 . 4.610 -2.310 0.010 0.130 -0.187 0.000 0.361 0.904 610 . . . ID=COSV66833525;OCCURENCE=1(lung) HYDIN 157 0 132 12 0.0833333333333333 NA TRUE ENSG00000167840.13 . BCM GRCh38.p13 chr17 5105858 5105858 + C C T Missense_Mutation SNP ENST00000250076.7 exon5 c.G1301A p.R434Q exonic ENSG00000167840.13 . nonsynonymous SNV ENSG00000167840.13:ENST00000250076.7:exon5:c.G1301A:p.R434Q 17p13.2 C3N-03754 2.596e-05 0 0 0 0 4.613e-05 0 0 rs200981387 0.17 T T . . N N . T N 0.066 T T T 0.036 . 0.040 0.039 T T T T T T 0.842 9.816 0.186 N N -1.664 0.042 -1.580 0.081 0.008 0.732 0.744 0.702 0.655 . 2.980 0.461 -0.236 -0.190 -0.313 0.000 0.128 0.425 599 Zinc_finger_C2H2-type . . ID=COSV51503834;OCCURENCE=1(soft_tissue),1(upper_aerodigestive_tract) ZNF232 79 0 24 4 0.142857142857143 NA TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675095 7675095 + C C A Missense_Mutation SNP ENST00000269305.8 exon5 c.G517T p.V173L exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.G517T:p.V173L 17p13.1 C3N-03754 . . . . . . . . rs876660754 18.20 D D D D D D M D D 0.899 D D D 0.880 0.885 0.976 1.647 T D D D D T 3.328 24.200 0.997 D D 0.766 8.144 0.634 6.672 1.000 0.722 0.698 0.698 0.735 . 5.590 5.590 7.905 1.026 0.599 1.000 0.746 0.500 434 p53,_DNA-binding_domain . . ID=COSV52676535;OCCURENCE=8(breast),1(liver),14(oesophagus),19(large_intestine),6(central_nervous_system),4(ovary),4(vulva),1(bone),1(NS),5(haematopoietic_and_lymphoid_tissue),10(stomach),1(urinary_tract),1(soft_tissue),3(kidney),2(pancreas),1(prostate),16(lung),11(upper_aerodigestive_tract),1(small_intestine) TP53 442 0 263 102 0.279452054794521 TRUE TRUE ENSG00000274808.5 . BCM GRCh38.p13 chr17 36168103 36168103 + T T C Missense_Mutation SNP ENST00000611257.4 exon12 c.A892G p.M298V exonic ENSG00000274808.5 . nonsynonymous SNV ENSG00000274808.5:ENST00000611257.4:exon12:c.A892G:p.M298V 17q12 C3N-03754 . . . . . . . . . 1.17 . T B B U N L . . 0.222 T T T 0.037 0.647 0.043 . T T T T T D 1.193 13.580 0.530 N N -0.795 0.661 -0.926 0.585 0.000 0.693 0.659 0.653 0.621 . . . 0.988 0.272 0.236 0.960 0.017 0.018 882 Rab-GTPase-TBC_domain . . . TBC1D3B 157 0 144 16 0.1 NA TRUE ENSG00000080573.7 . BCM GRCh38.p13 chr19 9960508 9960508 + G G A Missense_Mutation SNP ENST00000264828.4 exon67 c.C5141T p.A1714V exonic ENSG00000080573.7 . nonsynonymous SNV ENSG00000080573.7:ENST00000264828.4:exon67:c.C5141T:p.A1714V 19p13.2 C3N-03754 2.473e-05 0 0 0 0 4.499e-05 0 0 rs199939192 0.20 T T B B N N N T N 0.033 T T T 0.062 . 0.297 0.347 T T T T T T 0.311 4.416 0.362 N N -1.623 0.050 -1.532 0.096 0.034 0.615 0.588 0.659 0.542 . 4.030 -0.960 0.252 -0.079 -0.651 0.000 0.551 0.303 909 Fibrillar_collagen,_C-terminal . . . COL5A3 294 0 232 58 0.2 TRUE NA ENSG00000090924.15 . BCM GRCh38.p13 chr19 39414165 39414165 + G G A Missense_Mutation SNP ENST00000425673.6 exon2 c.G79A p.D27N exonic ENSG00000090924.15 . nonsynonymous SNV ENSG00000090924.15:ENST00000425673.6:exon2:c.G79A:p.D27N 19q13.2 C3N-03754 . . . . . . . . . 3.19 D D B B . N L T N 0.180 T T D 0.019 0.350 0.591 . T T T T T T 2.328 21.700 0.996 N N -0.508 1.160 -0.387 1.396 1.000 0.789 0.522 0.768 0.562 . 3.760 2.710 0.992 0.222 0.676 0.002 0.823 0.965 683 . . . . PLEKHG2 210 0 323 18 0.0527859237536657 TRUE NA ENSG00000124440.15 . BCM GRCh38.p13 chr19 46329333 46329333 + C C T Missense_Mutation SNP ENST00000377670.8 exon12 c.C1567T p.R523C exonic ENSG00000124440.15 . nonsynonymous SNV ENSG00000124440.15:ENST00000377670.8:exon12:c.C1567T:p.R523C 19q13.32 C3N-03754 2.547e-05 0 0.0002 0 0 1.556e-05 0 0 rs955256023 9.20 D T D D N D L T N 0.726 T T D 0.227 . 0.851 0.777 T T T D T D 3.866 26.200 0.999 D D 0.477 4.861 0.483 5.007 0.013 0.707 0.574 0.725 0.492 . 4.820 4.820 3.453 1.026 0.599 0.999 0.946 0.801 473 . . . . HIF3A 215 0 181 20 0.0995024875621891 TRUE NA ENSG00000101180.16 . BCM GRCh38.p13 chr20 62216392 62216392 + G G A Missense_Mutation SNP ENST00000340177.10 exon3 c.C952T p.R318C exonic ENSG00000101180.16 . nonsynonymous SNV ENSG00000101180.16:ENST00000340177.10:exon3:c.C952T:p.R318C 20q13.33 C3N-03754 0 0 0 0 0 0 0 0 rs201799413 7.20 D D B B N N M T N 0.174 T T D 0.141 0.410 0.832 1.357 T T T T D D 2.977 23.400 0.995 D N -0.090 2.208 0.042 2.509 0.578 0.696 0.547 0.723 0.563 . 4.610 3.540 2.381 1.152 0.650 0.960 0.995 0.923 856 GPCR,_rhodopsin-like,_7TM . . ID=COSV100420420;OCCURENCE=1(large_intestine) HRH3 100 0 49 8 0.140350877192982 TRUE NA ENSG00000198862.14 . BCM GRCh38.p13 chr21 28945848 28945848 + C C T Missense_Mutation SNP ENST00000361371.10 exon21 c.G3727A p.E1243K exonic ENSG00000198862.14 . nonsynonymous SNV ENSG00000198862.14:ENST00000361371.10:exon21:c.G3727A:p.E1243K 21q21.3 C3N-03754 . . . . . . . . . 6.20 T T B B D D M T N 0.542 T T T 0.078 0.363 0.200 0.343 T T T T D D 3.521 24.800 0.997 D N -0.064 2.292 0.107 2.763 1.000 0.722 0.709 0.609 0.735 . 4.800 4.800 3.161 1.026 0.549 0.997 1.000 0.985 973 . . . . LTN1 105 0 34 9 0.209302325581395 TRUE TRUE ENSG00000101745.17 . BCM GRCh38.p13 chr18 9216756 9216756 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000101745.17 ENST00000262126.9:exon7:c.653-2A>G . . 18p11.22 C3N-03754 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.494 34 0.995 D . 1.169 21.244 1.027 20.569 1.000 0.295 0.304 0.175 0.118 0.976 5.680 5.680 9.325 1.311 0.756 1.000 0.998 0.971 380 . . . . ANKRD12 112 0 32 4 0.111111111111111 NA TRUE ENSG00000169432.18 . BCM GRCh38.p13 chr2 166242562 166242562 + A A T Silent SNP ENST00000642356.2 exon19 c.T3567A p.V1189V exonic ENSG00000169432.18 . synonymous SNV ENSG00000169432.18:ENST00000642356.2:exon19:c.T3567A:p.V1189V 2q24.3 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN9A 167 0 44 7 0.137254901960784 NA TRUE ENSG00000206260.4 . BCM GRCh38.p13 chr3 139005801 139005801 + G G A Silent SNP ENST00000383163.4 exon1 c.C468T p.Y156Y exonic ENSG00000206260.4 . synonymous SNV ENSG00000206260.4:ENST00000383163.4:exon1:c.C468T:p.Y156Y 3q23 C3N-03754 1.695e-05 0 0 0 0 3.071e-05 0 0 rs749352615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67214839;OCCURENCE=1(large_intestine),1(urinary_tract),1(lung),1(endometrium) PRR23A 444 0 474 119 0.200674536256324 NA TRUE ENSG00000145244.12 . BCM GRCh38.p13 chr4 47806999 47806999 + G G A Silent SNP ENST00000273857.9 exon2 c.C112T p.L38L exonic ENSG00000145244.12 . synonymous SNV ENSG00000145244.12:ENST00000273857.9:exon2:c.C112T:p.L38L 4p12 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CORIN 187 0 112 26 0.188405797101449 TRUE TRUE ENSG00000083857.14 . BCM GRCh38.p13 chr4 186663600 186663600 + C C T Silent SNP ENST00000441802.7 exon3 c.G3279A p.T1093T exonic ENSG00000083857.14 . synonymous SNV ENSG00000083857.14:ENST00000441802.7:exon3:c.G3279A:p.T1093T 4q35.2 C3N-03754 5.064e-05 0 0 0.0001 0 4.592e-05 0 0.0001 rs145277827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT1 119 0 80 9 0.101123595505618 TRUE NA ENSG00000131503.21 . BCM GRCh38.p13 chr5 140402015 140402015 + G G T Silent SNP ENST00000360839.7 exon1 c.G48T p.L16L exonic ENSG00000131503.21;ENSG00000254996.5 . synonymous SNV ENSG00000131503.21:ENST00000360839.7:exon1:c.G48T:p.L16L,ENSG00000254996.5:ENST00000532219.5:exon1:c.G48T:p.L16L 5q31.3 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKHD1 81 0 60 11 0.154929577464789 TRUE TRUE ENSG00000164756.12 . BCM GRCh38.p13 chr8 117157744 117157744 + C C T Silent SNP ENST00000456015.6 exon4 c.C472T p.L158L exonic ENSG00000164756.12 . synonymous SNV ENSG00000164756.12:ENST00000456015.6:exon4:c.C472T:p.L158L 8q24.11 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC30A8 199 0 164 27 0.141361256544503 TRUE TRUE ENSG00000178814.17 . BCM GRCh38.p13 chr8 144053317 144053317 + C C T Silent SNP ENST00000618853.5 exon20 c.G2763A p.S921S exonic ENSG00000178814.17 . synonymous SNV ENSG00000178814.17:ENST00000618853.5:exon20:c.G2763A:p.S921S 8q24.3 C3N-03754 2.522e-05 0 0 0 0.0002 0 0 0.0001 rs782103109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OPLAH 261 0 155 30 0.162162162162162 TRUE NA ENSG00000066654.14 . BCM GRCh38.p13 chr16 20737826 20737826 + A A G Silent SNP ENST00000396083.7 exon3 c.T537C p.Y179Y exonic ENSG00000066654.14 . synonymous SNV ENSG00000066654.14:ENST00000396083.7:exon3:c.T537C:p.Y179Y 16p12.3 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THUMPD1 263 0 79 18 0.185567010309278 TRUE TRUE ENSG00000105426.17 . BCM GRCh38.p13 chr19 5244034 5244034 + G G A Silent SNP ENST00000587303.5 exon10 c.C1437T p.N479N exonic ENSG00000105426.17 . synonymous SNV ENSG00000105426.17:ENST00000587303.5:exon10:c.C1437T:p.N479N 19p13.3 C3N-03754 . . . . . . . . rs1002891578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53626191;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) PTPRS 233 0 182 42 0.1875 TRUE TRUE ENSG00000171105.14 . BCM GRCh38.p13 chr19 7267409 7267409 + G G A Silent SNP ENST00000302850.10 exon2 c.C588T p.C196C exonic ENSG00000171105.14 . synonymous SNV ENSG00000171105.14:ENST00000302850.10:exon2:c.C588T:p.C196C 19p13.2 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INSR 242 0 147 35 0.192307692307692 TRUE TRUE ENSG00000104888.10 . BCM GRCh38.p13 chr19 49431033 49431033 + C C T Silent SNP ENST00000221485.8 exon11 c.G1371A p.G457G exonic ENSG00000104888.10 . synonymous SNV ENSG00000104888.10:ENST00000221485.8:exon11:c.G1371A:p.G457G 19q13.33 C3N-03754 2.519e-05 0 0 0 0 4.557e-05 0 0 rs776117731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC17A7 99 0 69 21 0.233333333333333 TRUE NA ENSG00000123572.17 . BCM GRCh38.p13 chrX 105909867 105909867 + G G A Silent SNP ENST00000243300.14 exon13 c.G2226A p.L742L exonic ENSG00000123572.17 . synonymous SNV ENSG00000123572.17:ENST00000243300.14:exon13:c.G2226A:p.L742L Xq22.3 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRK 64 0 42 14 0.25 TRUE TRUE ENSG00000149091.15 . BCM GRCh38.p13 chr11 46366885 46366885 + G G T Intron SNP NA NA NA NA intronic ENSG00000149091.15 . . . 11p11.2 C3N-03754 . . . . . . . . . 4.20 T D B B N D L T N 0.151 T T D 0.170 0.201 0.598 0.120 T T T T T T 0.698 8.433 0.508 D N -0.546 1.088 -0.549 1.125 1.000 0.616 0.577 0.618 0.509 . 4.480 4.480 1.084 0.199 -0.153 0.007 0.001 0.003 40 . . . . DGKZ 347 1 244 45 0.155709342560554 TRUE NA ENSG00000246877.1 . BCM GRCh38.p13 chr15 75738587 75738587 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000246877.1 . . . 15q24.2 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNM1P35 8 1 4 4 0.5 TRUE NA ENSG00000124092.12 . BCM GRCh38.p13 chr20 57515664 57515664 + T T A Intron SNP NA NA NA NA intronic ENSG00000124092.12 . . . 20q13.31 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTCFL 167 0 129 28 0.178343949044586 TRUE NA ENSG00000111725.11 . BCM GRCh38.p13 chr12 119668368 119668370 + GAA GAA CAC Unknown MNP ENST00000229328.10 exon1 c.124_126delinsCAC p.E42H exonic ENSG00000111725.11 . nonframeshift substitution ENSG00000111725.11:ENST00000229328.10:exon1:c.124_126delinsCAC:p.E42H 12q24.23 C3N-03754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKAB1 391 63 278 63 0.18475073313783 TRUE TRUE ENSG00000048707.15 . BCM GRCh38.p13 chr1 12456029 12456029 + A A C Missense_Mutation SNP ENST00000620676.6 exon66 c.A12365C p.K4122T exonic ENSG00000048707.15 . nonsynonymous SNV ENSG00000048707.15:ENST00000620676.6:exon66:c.A12365C:p.K4122T 1p36.22 C3L-01037 . . . . . . . . . 10.17 . T B B D D N . . 0.706 T T T 0.327 . 0.043 . D D D D D D 2.911 23.200 0.996 D D 0.285 3.702 0.456 4.779 1.000 0.706 0.654 0.710 0.635 . 6.020 6.020 8.911 1.312 0.756 1.000 1.000 0.997 221 Vacuolar_protein_sorting-associated_protein_13,_C-terminal . . . VPS13D 143 0 171 24 0.123076923076923 TRUE TRUE ENSG00000198691.13 . BCM GRCh38.p13 chr1 94030452 94030452 + C C T Missense_Mutation SNP ENST00000370225.4 exon29 c.G4328A p.R1443H exonic ENSG00000198691.13 . nonsynonymous SNV ENSG00000198691.13:ENST00000370225.4:exon29:c.G4328A:p.R1443H 1p22.1 C3L-01037 2.472e-05 0 0 0 0 4.498e-05 0 0 rs61750142 17.20 D T D D N D M D D 0.716 D D D 0.805 . 0.973 0.476 T D D D D D 3.729 25.500 1.000 D D 0.516 5.159 0.442 4.667 1.000 0.554 0.547 0.600 0.568 . 4.650 3.720 3.432 0.103 0.599 1.000 0.997 0.994 549 . . . ID=COSV64673800;OCCURENCE=1(liver) ABCA4 550 0 677 65 0.0876010781671159 TRUE TRUE ENSG00000151694.14 . BCM GRCh38.p13 chr2 9535901 9535901 + A A T Missense_Mutation SNP ENST00000310823.8 exon4 c.T383A p.L128Q exonic ENSG00000151694.14 . nonsynonymous SNV ENSG00000151694.14:ENST00000310823.8:exon4:c.T383A:p.L128Q 2p25.1 C3L-01037 . . . . . . . . . 6.20 T D B B D D N T N 0.537 T T T 0.176 0.545 0.613 0.416 T T T T D D 2.107 20.200 0.980 D N 0.216 3.374 0.321 3.843 1.000 0.732 0.744 0.710 0.613 . 5.330 5.330 4.689 1.312 0.756 1.000 1.000 0.999 606 Peptidase_M12B,_propeptide . . . ADAM17 222 0 265 31 0.10472972972973 TRUE TRUE ENSG00000183091.19 . BCM GRCh38.p13 chr2 151655912 151655912 + T T C Missense_Mutation SNP ENST00000172853.14 exon50 c.A6607G p.K2203E exonic ENSG00000183091.19 . nonsynonymous SNV ENSG00000183091.19:ENST00000172853.14:exon50:c.A6607G:p.K2203E 2q23.3 C3L-01037 . . . . . . . . . 6.20 T D B B N N M T N 0.564 T T T 0.069 0.326 0.411 0.176 T T T T D D 3.260 24.000 0.996 D D -0.181 1.931 -0.076 2.116 1.000 0.554 0.574 0.618 0.479 . 5.300 5.300 1.962 1.138 0.665 0.745 1.000 0.995 904 . . . . NEB 306 1 387 32 0.0763723150357995 TRUE TRUE ENSG00000081479.15 . BCM GRCh38.p13 chr2 169272980 169272980 + C C T Missense_Mutation SNP ENST00000649046.1 exon15 c.G2063A p.R688H exonic ENSG00000081479.15 . nonsynonymous SNV ENSG00000081479.15:ENST00000649046.1:exon15:c.G2063A:p.R688H 2q31.1 C3L-01037 6.595e-05 0 0 0 0 0.0001 0.0011 0 rs148943767 17.20 D D D D D D L D D 0.875 D D D 0.721 . 0.770 0.976 T T D D D D 4.048 27.300 0.999 D D 0.776 8.336 0.754 8.885 1.000 0.361 0.563 0.567 0.530 . 5.500 5.500 7.792 1.026 0.599 1.000 0.897 0.917 892 EGF-like_domain . . ID=COSV55571441;OCCURENCE=1(large_intestine) LRP2 534 0 609 34 0.0528771384136858 TRUE NA ENSG00000162992.3 . BCM GRCh38.p13 chr2 181678577 181678577 + C C T Missense_Mutation SNP ENST00000295108.3 exon2 c.G284A p.R95H exonic ENSG00000162992.3 . nonsynonymous SNV ENSG00000162992.3:ENST00000295108.3:exon2:c.G284A:p.R95H 2q31.3 C3L-01037 . . . . . . . . . 18.20 D D D D D D M D D 0.521 D D D 0.648 0.257 0.995 1.462 T D D D D D 4.176 28.400 1.000 N D 0.888 10.738 0.881 12.959 1.000 0.598 0.563 0.616 0.639 . 6.160 6.160 6.059 1.026 0.599 1.000 1.000 0.998 854 . . . ID=COSV54548947;OCCURENCE=1(large_intestine),1(lung) NEUROD1 458 0 695 70 0.0915032679738562 TRUE TRUE ENSG00000010322.16 . BCM GRCh38.p13 chr3 52488134 52488134 + G G A Nonsense_Mutation SNP ENST00000345716.9 exon16 c.G2642A p.W881X exonic ENSG00000010322.16 . stopgain ENSG00000010322.16:ENST00000345716.9:exon16:c.G2642A:p.W881X 3p21.1 C3L-01037 . . . . . . . . . 5.6 . . . . D A . . . 0.812 . . . . . . . . . D D . . 7.693 39 0.994 D N 0.802 8.814 0.668 7.197 0.997 0.707 0.702 0.702 0.714 . 5.040 5.040 3.156 1.172 0.672 1.000 1.000 0.987 75 . . . . NISCH 391 0 556 55 0.0900163666121113 TRUE TRUE ENSG00000114124.2 . BCM GRCh38.p13 chr3 141780636 141780636 + G G A Missense_Mutation SNP ENST00000264952.2 exon2 c.G875A p.R292Q exonic ENSG00000114124.2 . nonsynonymous SNV ENSG00000114124.2:ENST00000264952.2:exon2:c.G875A:p.R292Q 3q23 C3L-01037 0.0001 0.0009 0.0002 0 0 1.499e-05 0 6.058e-05 rs146685701 12.20 D D D D D D L T D 0.694 T T D 0.568 . 0.931 0.746 T T T D T D 3.812 25.900 0.999 D D 0.484 4.914 0.460 4.812 1.000 0.487 0.574 0.547 0.530 . 5.100 5.100 7.759 1.006 0.676 1.000 0.585 0.931 721 Protein_kinase_domain . . . GRK7 361 0 450 49 0.0981963927855711 TRUE NA ENSG00000196549.11 . BCM GRCh38.p13 chr3 155147172 155147172 + A A G Missense_Mutation SNP ENST00000360490.7 exon15 c.A1445G p.Y482C exonic ENSG00000196549.11 . nonsynonymous SNV ENSG00000196549.11:ENST00000360490.7:exon15:c.A1445G:p.Y482C 3q25.2 C3L-01037 . . . . . . . . . 19.20 D D D D D D M D D 0.978 D D D 0.925 0.901 0.970 0.432 T D D D D D 4.220 28.800 0.999 D D 0.847 9.775 0.823 10.846 1.000 0.693 0.574 0.653 0.564 . 5.840 5.840 7.397 1.312 0.756 1.000 1.000 0.998 778 Peptidase_M13,_N-terminal_domain . . . MME 248 0 291 28 0.0877742946708464 TRUE TRUE ENSG00000152592.14 . BCM GRCh38.p13 chr4 87656505 87656505 + A A T Missense_Mutation SNP ENST00000339673.11 exon2 c.A13T p.I5F exonic ENSG00000152592.14 . nonsynonymous SNV ENSG00000152592.14:ENST00000339673.11:exon2:c.A13T:p.I5F 4q22.1 C3L-01037 . . . . . . . . . 0.20 T T B B N N L T N 0.357 T T T 0.106 0.710 0.389 0.375 T T T T T T 0.564 7.157 0.962 N N -1.052 0.351 -1.038 0.443 0.998 0.554 0.574 0.618 0.613 . 5.620 -3.620 -0.428 0.323 -0.065 0.001 0.934 0.859 421 . . . . DMP1 434 0 530 41 0.0718038528896672 TRUE TRUE ENSG00000173376.14 . BCM GRCh38.p13 chr4 121036368 121036368 + G G T Missense_Mutation SNP ENST00000379692.9 exon4 c.C1603A p.L535I exonic ENSG00000173376.14 . nonsynonymous SNV ENSG00000173376.14:ENST00000379692.9:exon4:c.C1603A:p.L535I 4q27 C3L-01037 . . . . . . . . . 14.20 D D D D D D M T N 0.699 T D T 0.533 0.810 0.884 0.547 T T D D D D 3.903 26.400 0.995 D D 0.888 10.746 0.874 12.685 1.000 0.554 0.574 0.618 0.564 . 6.030 6.030 8.136 1.155 0.676 1.000 0.997 0.999 826 Fibronectin_type_III . . . NDNF 305 0 356 26 0.0680628272251309 TRUE TRUE ENSG00000164306.11 . BCM GRCh38.p13 chr4 184685642 184685642 + G G A Nonsense_Mutation SNP ENST00000314970.11 exon11 c.G1253A p.W418X exonic ENSG00000164306.11 . stopgain ENSG00000164306.11:ENST00000314970.11:exon11:c.G1253A:p.W418X 4q35.1 C3L-01037 . . . . . . . . . 5.6 . . . . D A . . . 0.463 . . . . . . . . . D D . . 9.026 47 0.997 D N 1.035 15.067 0.941 15.625 1.000 0.615 0.634 0.659 0.655 . 5.920 5.920 8.997 1.156 0.670 1.000 1.000 0.996 915 . . . . PRIMPOL 136 0 185 16 0.0796019900497512 TRUE TRUE ENSG00000145863.11 . BCM GRCh38.p13 chr5 161686334 161686334 + G G A Missense_Mutation SNP ENST00000274545.10 exon2 c.G143A p.R48Q exonic ENSG00000145863.11 . nonsynonymous SNV ENSG00000145863.11:ENST00000274545.10:exon2:c.G143A:p.R48Q 5q34 C3L-01037 1.648e-05 0 0 0 0 1.499e-05 0 6.057e-05 rs751098162 19.20 D D D D D D H D D 0.934 D D D 0.864 0.946 0.986 0.442 T D D D D D 4.249 29.100 0.999 D D 1.018 14.507 0.913 14.318 1.000 0.487 0.574 0.574 0.564 . 5.630 5.630 9.407 1.176 0.676 1.000 0.955 0.748 923 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . ID=COSV50883531;OCCURENCE=1(breast),1(liver),1(large_intestine) GABRA6 605 1 693 66 0.0869565217391304 TRUE TRUE ENSG00000072803.17 . BCM GRCh38.p13 chr5 171891549 171891549 + C C T Missense_Mutation SNP ENST00000265094.9 exon6 c.G707A p.R236H exonic ENSG00000072803.17 . nonsynonymous SNV ENSG00000072803.17:ENST00000265094.9:exon6:c.G707A:p.R236H 5q35.1 C3L-01037 . . . . . . . . . 7.20 T T B B D D N T N 0.619 T T T 0.169 . 0.589 1.630 D T T T D D 2.631 22.700 0.968 D D 0.001 2.515 0.214 3.253 1.000 0.732 0.744 0.725 0.728 . 4.960 4.960 7.797 0.947 0.549 1.000 0.999 0.997 946 WD40-repeat-containing_domain . . ID=COSV51613076;OCCURENCE=1(urinary_tract),1(endometrium) FBXW11 215 0 280 19 0.0635451505016722 NA TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152321362 152321362 + C C T Missense_Mutation SNP ENST00000367255.10 exon84 c.G16112A p.R5371Q exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon84:c.G16112A:p.R5371Q 6q25.2 C3L-01037 1.659e-05 0 0 0.0001 0 0 0 6.105e-05 rs527462104 5.20 T D B B N D L T N 0.211 T T T 0.026 0.381 0.457 0.155 T T T T T D 2.215 21.000 0.940 D D -0.204 1.865 -0.084 2.093 0.826 0.554 0.590 0.574 0.568 . 5.250 1.970 2.976 0.138 0.599 0.996 0.995 0.997 835 . . . ID=COSV55034205;OCCURENCE=1(large_intestine),1(stomach) SYNE1 194 0 239 18 0.0700389105058366 TRUE TRUE ENSG00000204947.9 . BCM GRCh38.p13 chr7 149105168 149105168 + G G A Missense_Mutation SNP ENST00000378061.7 exon4 c.C703T p.R235W exonic ENSG00000204947.9 . nonsynonymous SNV ENSG00000204947.9:ENST00000378061.7:exon4:c.C703T:p.R235W 7q36.1 C3L-01037 . . . . . . . . . 0.19 T T B B . N L T N 0.114 T T T 0.024 0.416 0.289 0.313 T T T T T T -0.254 0.391 0.831 N N -1.413 0.112 -1.458 0.125 0.000 0.651 0.588 0.651 0.613 . 2.620 -2.900 -4.848 -0.780 -0.633 0.000 0.001 0.050 958 . . . ID=COSV100955618;OCCURENCE=1(endometrium) ZNF425 316 0 426 39 0.0838709677419355 TRUE TRUE ENSG00000175946.8 . BCM GRCh38.p13 chr8 123645908 123645908 + G G A Missense_Mutation SNP ENST00000325995.7 exon3 c.C1577T p.T526M exonic ENSG00000175946.8 . nonsynonymous SNV ENSG00000175946.8:ENST00000325995.7:exon3:c.C1577T:p.T526M 8q24.13 C3L-01037 4.968e-05 0.0004 0 0 0 0 0 0.0001 rs373548260 15.20 D D D D D D L T D 0.740 D D D 0.610 . 0.828 0.291 T T T D D D 4.207 28.700 0.999 D D 0.707 7.224 0.697 7.688 1.000 0.447 0.563 0.547 0.530 . 5.000 5.000 10.003 1.176 0.676 1.000 0.758 0.642 969 . . . ID=COSV58086469;OCCURENCE=1(parathyroid),3(pancreas) KLHL38 592 0 890 196 0.180478821362799 TRUE TRUE ENSG00000044459.15 . BCM GRCh38.p13 chr9 17143307 17143307 + G G T Missense_Mutation SNP ENST00000380647.8 exon2 c.G380T p.W127L exonic ENSG00000044459.15 . nonsynonymous SNV ENSG00000044459.15:ENST00000380647.8:exon2:c.G380T:p.W127L 9p22.2 C3L-01037 . . . . . . . . . 12.18 D D D D . D M T D 0.915 T T T 0.411 0.490 0.199 . T . D D D T 4.416 31 0.986 D D 0.891 10.826 0.907 14.036 1.000 0.693 0.588 0.659 0.655 . 6.070 6.070 7.379 1.176 0.676 1.000 1.000 0.999 719 . . . . CNTLN 183 0 201 29 0.126086956521739 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971109 21971109 + C C T Missense_Mutation SNP ENST00000304494.9 exon2 c.G250A p.D84N exonic ENSG00000147889.17 . nonsynonymous SNV ENSG00000147889.17:ENST00000304494.9:exon2:c.G250A:p.D84N 9p21.3 C3L-01037 . . . . . . . . rs11552822 17.18 D D D D . D . D D 0.785 D D D 0.670 0.399 0.971 1.197 T D D D D D 4.519 32 0.999 D D 0.737 7.663 0.775 9.433 1.000 0.677 0.383 0.607 0.601 . 5.930 5.930 7.307 1.026 0.599 1.000 0.984 0.972 900 Ankyrin_repeat-containing_domain . . ID=COSV58683289;OCCURENCE=1(penis),3(oesophagus),1(central_nervous_system),4(biliary_tract),1(ovary),3(urinary_tract),2(pancreas),4(skin),8(lung),2(upper_aerodigestive_tract) CDKN2A 736 0 706 112 0.136919315403423 TRUE TRUE ENSG00000119487.17 . BCM GRCh38.p13 chr9 125672331 125672331 + T T C Missense_Mutation SNP ENST00000265960.8 exon2 c.A244G p.R82G exonic ENSG00000119487.17 . nonsynonymous SNV ENSG00000119487.17:ENST00000265960.8:exon2:c.A244G:p.R82G 9q33.3 C3L-01037 . . . . . . . . . 16.19 D D D D D D M . D 0.789 T T T 0.434 0.640 0.532 1.692 D D D D D D 4.131 28.000 0.999 D D 0.634 6.288 0.630 6.615 1.000 0.737 0.725 0.733 0.714 . 5.800 5.800 3.141 1.138 0.665 1.000 1.000 1.000 94 Sin1,_N-terminal . . . MAPKAP1 188 0 231 21 0.0833333333333333 TRUE TRUE ENSG00000170835.16 . BCM GRCh38.p13 chr9 133071495 133071495 + T T G Missense_Mutation SNP ENST00000372080.8 exon11 c.T1993G p.S665A exonic ENSG00000170835.16 . nonsynonymous SNV ENSG00000170835.16:ENST00000372080.8:exon11:c.T1993G:p.S665A 9q34.13 C3L-01037 . . . . . . . . rs2480922 3.16 T D . . . N . T N 0.165 T T D 0.140 . 0.655 0.430 T T T T T D 1.307 14.440 0.968 N N -0.665 0.872 -0.963 0.536 0.169 0.403 0.547 0.578 0.563 . 1.190 -1.940 -0.029 0.509 0.225 0.000 0.014 0.008 962 Mucin-like_domain . . ID=COSV60827533;OCCURENCE=1(pancreas) CEL 96 0 87 6 0.0645161290322581 TRUE NA ENSG00000196642.19 . BCM GRCh38.p13 chr9 136829394 136829394 + C C T Missense_Mutation SNP ENST00000311502.12 exon5 c.C368T p.A123V exonic ENSG00000196642.19 . nonsynonymous SNV ENSG00000196642.19:ENST00000311502.12:exon5:c.C368T:p.A123V 9q34.3 C3L-01037 0 0 0 0 0 0 0 0 rs774650717 3.20 T T B B N D L T N 0.182 T T D 0.051 . 0.462 0.918 T T T T T T 1.592 16.320 0.987 D N -0.528 1.122 -0.476 1.242 0.987 0.713 0.702 0.636 0.714 . 4.830 2.010 2.928 -0.238 -0.182 0.998 0.794 0.579 976 . . . . RABL6 201 0 250 29 0.103942652329749 TRUE NA ENSG00000204176.14 . BCM GRCh38.p13 chr10 46582123 46582123 + C C T Missense_Mutation SNP ENST00000374321.9 exon4 c.C583T p.R195C exonic ENSG00000204176.14 . nonsynonymous SNV ENSG00000204176.14:ENST00000374321.9:exon4:c.C583T:p.R195C 10q11.22 C3L-01037 . . . . . . . . . 4.7 D D . . . . . T D 0.301 . . . . . . . . T . . . D 1.769 17.510 . . N . . . . . . . . . . . . -0.203 1.019 0.578 0.521 0.966 0.995 970 C2_domain . . ID=COSV65430105;OCCURENCE=1(oesophagus),1(large_intestine),1(urinary_tract) SYT15 87 0 84 10 0.106382978723404 NA TRUE ENSG00000165923.16 . BCM GRCh38.p13 chr11 47699490 47699490 + A A G Missense_Mutation SNP ENST00000525123.6 exon8 c.T650C p.I217T exonic ENSG00000165923.16 . nonsynonymous SNV ENSG00000165923.16:ENST00000525123.6:exon8:c.T650C:p.I217T 11p11.2 C3L-01037 . . . . . . . . . 3.19 T T B B N N M T N 0.131 T T T 0.107 0.403 0.540 0.145 T T T T D . 2.116 20.200 0.963 D N -0.062 2.297 0.090 2.695 0.042 0.554 0.588 0.602 0.564 . 5.220 5.220 3.185 1.280 0.745 1.000 1.000 0.998 11 . . . . AGBL2 209 0 305 26 0.0785498489425982 TRUE TRUE ENSG00000177103.15 . BCM GRCh38.p13 chr11 117433443 117433443 + T T C Missense_Mutation SNP ENST00000651296.2 exon28 c.A4905G p.I1635M exonic ENSG00000177103.15 . nonsynonymous SNV ENSG00000177103.15:ENST00000651296.2:exon28:c.A4905G:p.I1635M 11q23.3 C3L-01037 . . . . . . . . . 5.15 T T . . . D . T N 0.362 T T D 0.247 . 0.925 1.470 D . T T T T 2.753 22.900 0.351 D D -0.320 1.566 -0.151 1.909 0.839 0.497 0.492 0.578 0.542 . 4.260 4.260 0.932 1.138 0.609 1.000 0.997 0.951 854 . . . . DSCAML1 80 0 181 13 0.0670103092783505 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01037 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 310 0 350 77 0.180327868852459 TRUE TRUE ENSG00000139220.16 . BCM GRCh38.p13 chr12 81344671 81344671 + C C T Missense_Mutation SNP ENST00000549396.5 exon19 c.G2255A p.R752Q exonic ENSG00000139220.16 . nonsynonymous SNV ENSG00000139220.16:ENST00000549396.5:exon19:c.G2255A:p.R752Q 12q21.31 C3L-01037 . . . . . . . . . 9.20 T T D P D D M T N 0.652 T T T 0.195 0.319 0.425 0.848 D T T T D D 4.422 31 0.999 D D 0.721 7.428 0.744 8.661 1.000 0.487 0.574 0.574 0.564 . 5.760 5.760 7.386 1.026 0.599 1.000 1.000 1.000 814 . . . ID=COSV61036725;OCCURENCE=1(small_intestine) PPFIA2 118 0 130 11 0.0780141843971631 TRUE TRUE ENSG00000122970.16 . BCM GRCh38.p13 chr12 110127499 110127499 + A A - Frame_Shift_Del DEL ENST00000242591.10 exon2 c.119delA p.D40Vfs*27 exonic ENSG00000122970.16 . frameshift deletion ENSG00000122970.16:ENST00000242591.10:exon2:c.119delA:p.D40Vfs*27 12q24.11 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IFT81 126 0 147 16 0.098159509202454 TRUE TRUE ENSG00000181234.9 . BCM GRCh38.p13 chr12 128414864 128414864 + G G A Missense_Mutation SNP ENST00000435159.2 exon2 c.G218A p.R73Q exonic ENSG00000181234.9 . nonsynonymous SNV ENSG00000181234.9:ENST00000435159.2:exon2:c.G218A:p.R73Q 12q24.32 C3L-01037 5.088e-05 0 0 0 0 0 0 0.0001 rs545431831 5.17 T T . . . D M T N 0.450 T T T 0.106 0.241 0.093 0.234 T T T T T D 3.398 24.400 0.999 D D 0.016 2.570 -0.096 2.058 0.009 0.554 0.574 0.618 0.564 . 4.290 3.390 5.411 1.176 0.676 1.000 0.592 0.273 994 Transmembrane_protein_TMEM132,_N-terminal . . . TMEM132C 244 0 374 48 0.113744075829384 TRUE NA ENSG00000100813.14 . BCM GRCh38.p13 chr14 23080556 23080556 + T T C Missense_Mutation SNP ENST00000262710.5 exon6 c.A953G p.E318G exonic ENSG00000100813.14 . nonsynonymous SNV ENSG00000100813.14:ENST00000262710.5:exon6:c.A953G:p.E318G 14q11.2 C3L-01037 . . . . . . . . . 1.20 T T B B N N N T N 0.135 T T T 0.020 0.131 0.194 0.033 T T T T T T 1.896 18.460 0.988 D N -0.525 1.128 -0.412 1.351 1.000 0.722 0.725 0.702 0.735 . 4.760 3.600 1.990 1.138 0.665 0.907 0.929 0.863 808 . . . . ACIN1 342 0 475 72 0.131627056672761 TRUE TRUE ENSG00000087302.9 . BCM GRCh38.p13 chr14 52004439 52004439 + A A G Missense_Mutation SNP ENST00000261700.8 exon8 c.A658G p.N220D exonic ENSG00000087302.9 . nonsynonymous SNV ENSG00000087302.9:ENST00000261700.8:exon8:c.A658G:p.N220D 14q22.1 C3L-01037 . . . . . . . . . 11.17 D D D P D D . . D 0.871 T T T 0.556 0.898 0.642 0.258 . T D T D D 4.041 27.300 0.997 D D 0.871 10.337 0.875 12.733 1.000 0.722 0.725 0.702 0.735 . 6.170 6.170 9.092 1.312 0.750 1.000 0.994 0.991 899 . . . . RTRAF 180 0 284 22 0.0718954248366013 TRUE TRUE ENSG00000183379.9 . BCM GRCh38.p13 chr14 74409603 74409603 + G G T Missense_Mutation SNP ENST00000331628.8 exon2 c.C142A p.P48T exonic ENSG00000183379.9 . nonsynonymous SNV ENSG00000183379.9:ENST00000331628.8:exon2:c.C142A:p.P48T 14q24.3 C3L-01037 . . . . . . . . . 3.20 T T B B N N L D N 0.098 T D D 0.140 0.300 0.346 0.361 T T T T T T 0.726 8.689 0.367 N N -0.928 0.486 -0.940 0.566 1.000 0.657 0.588 0.673 0.542 . 4.440 2.540 0.856 0.219 0.614 0.412 0.003 0.003 257 . . . . SYNDIG1L 42 0 49 5 0.0925925925925926 TRUE TRUE ENSG00000277865.4 . BCM GRCh38.p13 chr15 22466233 22466235 + AGG AGG - In_Frame_Del DEL ENST00000622895.1 exon8 c.1841_1843del p.E616del exonic ENSG00000277865.4 . nonframeshift deletion ENSG00000277865.4:ENST00000622895.1:exon8:c.1841_1843del:p.E616del 15q11.2 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GOLGA6L22 95 0 80 15 0.157894736842105 NA TRUE ENSG00000196557.13 . BCM GRCh38.p13 chr16 1220141 1220141 + G G A Missense_Mutation SNP ENST00000348261.11 exon35 c.G6209A p.R2070H exonic ENSG00000196557.13 . nonsynonymous SNV ENSG00000196557.13:ENST00000348261.11:exon35:c.G6209A:p.R2070H 16p13.3 C3L-01037 1.407e-05 0 0 0 0 2.302e-05 0 0 rs777897759 6.20 T T B B N N M D N 0.234 D D D 0.265 0.248 0.889 . T T T T D T 1.698 17.010 0.989 N N -0.773 0.694 -0.829 0.717 0.206 0.696 0.547 0.723 0.563 . 4.620 2.650 0.520 1.083 0.618 0.001 0.012 0.005 929 . . . ID=COSV52353458;OCCURENCE=1(large_intestine) CACNA1H 23 0 34 8 0.19047619047619 TRUE TRUE ENSG00000182601.7 . BCM GRCh38.p13 chr16 25692455 25692455 + C C T Missense_Mutation SNP ENST00000331351.6 exon1 c.C38T p.P13L exonic ENSG00000182601.7 . nonsynonymous SNV ENSG00000182601.7:ENST00000331351.6:exon1:c.C38T:p.P13L 16p12.1 C3L-01037 . . . . . . . . rs922018317 5.20 D D B B U D N T N 0.296 T T D 0.131 0.228 0.251 1.623 D T T T T T 2.166 20.600 0.975 N N -0.739 0.747 -0.694 0.908 0.081 0.455 0.590 0.607 0.563 . 1.320 1.320 0.479 0.896 0.414 0.000 0.998 0.862 949 . . . . HS3ST4 97 0 114 7 0.0578512396694215 TRUE NA ENSG00000159625.15 . BCM GRCh38.p13 chr16 57731239 57731239 + T T A Missense_Mutation SNP ENST00000360716.8 exon19 c.T2606A p.L869H exonic ENSG00000159625.15 . nonsynonymous SNV ENSG00000159625.15:ENST00000360716.8:exon19:c.T2606A:p.L869H 16q21 C3L-01037 . . . . . . . . . 2.19 D D P B N N . T N 0.234 T T T 0.129 0.372 0.110 0.226 T T T T T T 1.402 15.090 0.745 N N -0.676 0.854 -0.827 0.721 0.451 0.578 0.547 0.608 0.542 . 5.280 -0.327 1.597 0.173 -0.174 0.133 0.002 0.007 856 . . . . DRC7 198 0 283 21 0.0690789473684211 TRUE TRUE ENSG00000157423.18 . BCM GRCh38.p13 chr16 70970543 70970543 + G G A Nonsense_Mutation SNP ENST00000393567.7 exon36 c.C5596T p.Q1866X exonic ENSG00000157423.18 . stopgain ENSG00000157423.18:ENST00000393567.7:exon36:c.C5596T:p.Q1866X 16q22.2 C3L-01037 . . . . . . . . . 4.6 . . . . U A . . . 0.393 . . . . . . . . . D D . . 7.257 37 0.998 D N 0.814 9.059 0.665 7.144 1.000 0.554 0.563 0.602 0.542 . 4.650 4.650 3.911 1.176 0.676 1.000 0.997 0.982 600 . . . . HYDIN 69 0 76 11 0.126436781609195 NA TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675143 7675143 + C C A Missense_Mutation SNP ENST00000269305.8 exon5 c.G469T p.V157F exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.G469T:p.V157F 17p13.1 C3L-01037 . . . . . . . . rs121912654 16.20 D D D D N D M D D 0.797 D D D 0.708 0.718 0.977 1.914 T D D D D D 2.433 22.200 0.991 N N -0.151 2.018 -0.381 1.406 0.740 0.722 0.698 0.698 0.735 . 5.470 2.420 0.371 0.114 -0.313 0.050 0.034 0.076 434 p53,_DNA-binding_domain . . ID=COSV52667015;OCCURENCE=19(breast),33(liver),21(oesophagus),1(adrenal_gland),22(large_intestine),9(central_nervous_system),3(biliary_tract),2(vulva),13(ovary),1(bone),1(NS),4(stomach),15(haematopoietic_and_lymphoid_tissue),2(kidney),4(urinary_tract),3(soft_tissue),5(pancreas),3(skin),2(prostate),101(lung),1(thyroid),37(upper_aerodigestive_tract),1(thymus),2(endometrium) TP53 287 1 343 46 0.118251928020566 TRUE TRUE ENSG00000153930.12 . BCM GRCh38.p13 chr17 56350791 56350791 + C C A Missense_Mutation SNP ENST00000318698.6 exon4 c.C223A p.Q75K exonic ENSG00000153930.12 . nonsynonymous SNV ENSG00000153930.12:ENST00000318698.6:exon4:c.C223A:p.Q75K 17q22 C3L-01037 . . . . . . . . . 8.20 D D B B D D L T N 0.723 T T T 0.109 0.214 0.717 0.625 T T T T D D 2.629 22.700 0.996 D D 0.106 2.911 0.231 3.338 0.986 0.487 0.574 0.574 0.634 . 5.570 4.580 5.835 1.026 0.599 1.000 1.000 0.996 385 . . . . ANKFN1 289 1 322 38 0.105555555555556 TRUE NA ENSG00000089847.12 . BCM GRCh38.p13 chr19 4218048 4218048 + C C T Missense_Mutation SNP ENST00000600132.5 exon18 c.C2888T p.A963V exonic ENSG00000089847.12 . nonsynonymous SNV ENSG00000089847.12:ENST00000600132.5:exon18:c.C2888T:p.A963V 19p13.3 C3L-01037 0 0 0 0 0 0 0 0 rs754899693 7.19 D D D B . N L T N 0.080 T T D 0.055 . 0.467 0.754 D T T T D T 2.352 21.900 0.999 D N 0.025 2.600 0.078 2.646 0.023 0.696 0.588 0.723 0.605 . 4.300 4.300 2.792 0.078 0.500 0.983 0.005 0.064 922 . . . . ANKRD24 320 0 400 48 0.107142857142857 TRUE NA ENSG00000101104.13 . BCM GRCh38.p13 chr20 44921700 44921700 + A A G Missense_Mutation SNP ENST00000255136.8 exon6 c.A845G p.Q282R exonic ENSG00000101104.13 . nonsynonymous SNV ENSG00000101104.13:ENST00000255136.8:exon6:c.A845G:p.Q282R 20q13.12 C3L-01037 1.665e-05 0 0 0 0.0003 0 0 0 rs765113113 10.20 D D P B D D M T D 0.600 T T T 0.123 0.341 0.508 0.539 T T T T D D 2.756 22.900 0.993 D D 0.412 4.417 0.471 4.903 0.571 0.707 0.725 0.725 0.684 . 5.380 5.380 5.981 1.307 0.751 1.000 1.000 0.998 863 . . . . PABPC1L 275 0 335 53 0.13659793814433 TRUE NA ENSG00000124126.14 . BCM GRCh38.p13 chr20 48650142 48650142 + G G A Missense_Mutation SNP ENST00000371941.4 exon24 c.C2882T p.P961L exonic ENSG00000124126.14 . nonsynonymous SNV ENSG00000124126.14:ENST00000371941.4:exon24:c.C2882T:p.P961L 20q13.13 C3L-01037 0.0002 0.0003 0.0004 0.0002 0 0.0003 0 6.057e-05 rs41283554 3.20 D T B B U N L T D 0.106 T T T 0.058 . 0.300 0.351 T T T T T T 2.135 20.400 0.970 D N -0.406 1.369 -0.296 1.572 0.977 0.706 0.702 0.710 0.714 . 5.710 3.720 3.002 0.230 -0.108 0.970 0.983 0.859 835 . . . ID=COSV64248826;OCCURENCE=1(large_intestine),1(urinary_tract),1(skin),1(prostate) PREX1 228 0 312 29 0.0850439882697947 TRUE TRUE ENSG00000169548.3 . BCM GRCh38.p13 chr22 22515456 22515456 + C C T Missense_Mutation SNP ENST00000302097.3 exon2 c.G175A p.V59I exonic ENSG00000169548.3 . nonsynonymous SNV ENSG00000169548.3:ENST00000302097.3:exon2:c.G175A:p.V59I 22q11.22 C3L-01037 3.297e-05 0 0 0.0001 0 2.999e-05 0 6.057e-05 rs768517565 0.15 T T . . . N . T N 0.035 T T T 0.019 0.229 0.118 0.034 T . T T T T 0.698 8.434 0.814 N N -1.254 0.192 -1.180 0.300 1.000 0.549 0.574 0.563 0.616 . 3.800 0.267 0.479 -0.340 -0.799 0.996 0.480 0.357 976 Domain_of_unknown_function_DUF4195 . . ID=COSV57479567;OCCURENCE=1(stomach) ZNF280A 204 0 263 23 0.0804195804195804 TRUE TRUE ENSG00000102230.14 . BCM GRCh38.p13 chrX 24579369 24579369 + G G A Missense_Mutation SNP ENST00000379144.7 exon6 c.C655T p.R219C exonic ENSG00000102230.14 . nonsynonymous SNV ENSG00000102230.14:ENST00000379144.7:exon6:c.C655T:p.R219C Xp22.11 C3L-01037 . . . . . . . . . 18.18 D D D D D D M . D 0.808 D D D 0.892 0.670 0.924 2.582 D D D D D D 4.497 32 0.999 D . . . . . 1.000 . . . . . 5.090 5.090 9.593 1.176 0.676 1.000 0.988 0.988 276 . . . . PCYT1B 78 0 98 16 0.140350877192982 TRUE TRUE ENSG00000115760.14 . BCM GRCh38.p13 chr2 32467659 32467659 + T T C Silent SNP ENST00000421745.6 exon27 c.T5491C p.L1831L exonic ENSG00000115760.14 . synonymous SNV ENSG00000115760.14:ENST00000421745.6:exon27:c.T5491C:p.L1831L 2p22.3 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BIRC6 308 0 417 35 0.0774336283185841 TRUE NA ENSG00000013810.19 . BCM GRCh38.p13 chr4 1727930 1727930 + C C T Silent SNP ENST00000313288.9 exon4 c.C528T p.G176G exonic ENSG00000013810.19 . synonymous SNV ENSG00000013810.19:ENST00000313288.9:exon4:c.C528T:p.G176G 4p16.3 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TACC3 400 0 526 46 0.0804195804195804 TRUE TRUE ENSG00000137449.16 . BCM GRCh38.p13 chr4 15003153 15003153 + C C T Silent SNP ENST00000538197.6 exon1 c.C480T p.T160T exonic ENSG00000137449.16 . synonymous SNV ENSG00000137449.16:ENST00000538197.6:exon1:c.C480T:p.T160T 4p15.32 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPEB2 114 0 186 11 0.0558375634517767 TRUE NA ENSG00000248383.4 . BCM GRCh38.p13 chr5 140927273 140927273 + C C T Silent SNP ENST00000253807.2 exon1 c.C381T p.G127G exonic ENSG00000248383.4 . synonymous SNV ENSG00000248383.4:ENST00000253807.2:exon1:c.C381T:p.G127G 5q31.3 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHAC1 238 0 320 36 0.101123595505618 TRUE TRUE ENSG00000113209.9 . BCM GRCh38.p13 chr5 141136544 141136544 + T T C Silent SNP ENST00000231134.8 exon1 c.T1110C p.S370S exonic ENSG00000113209.9 . synonymous SNV ENSG00000113209.9:ENST00000231134.8:exon1:c.T1110C:p.S370S 5q31.3 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHB5 224 1 289 27 0.0854430379746835 TRUE TRUE ENSG00000203734.12 . BCM GRCh38.p13 chr6 138885734 138885734 + C C T Silent SNP ENST00000541398.6 exon18 c.C2163T p.Y721Y exonic ENSG00000203734.12 . synonymous SNV ENSG00000203734.12:ENST00000541398.6:exon18:c.C2163T:p.Y721Y 6q24.1 C3L-01037 7.457e-05 0.0001 0.0003 0 0 5.997e-05 0 0 rs192685430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ECT2L 168 0 207 22 0.0960698689956332 TRUE NA ENSG00000023287.13 . BCM GRCh38.p13 chr8 52642589 52642589 + A A G Silent SNP ENST00000025008.10 exon18 c.T4099C p.L1367L exonic ENSG00000023287.13 . synonymous SNV ENSG00000023287.13:ENST00000025008.10:exon18:c.T4099C:p.L1367L 8q11.23 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RB1CC1 136 0 154 29 0.158469945355191 TRUE TRUE ENSG00000204291.11 . BCM GRCh38.p13 chr9 98986073 98986073 + C C T Silent SNP ENST00000375001.8 exon3 c.C609T p.F203F exonic ENSG00000204291.11 . synonymous SNV ENSG00000204291.11:ENST00000375001.8:exon3:c.C609T:p.F203F 9q22.33 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66644569;OCCURENCE=1(prostate) COL15A1 204 0 244 31 0.112727272727273 TRUE TRUE ENSG00000135472.9 . BCM GRCh38.p13 chr12 49870567 49870567 + A A T Silent SNP ENST00000320634.8 exon12 c.T888A p.I296I exonic ENSG00000135472.9 . synonymous SNV ENSG00000135472.9:ENST00000320634.8:exon12:c.T888A:p.I296I 12q13.12 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAIM2 177 0 248 26 0.0948905109489051 TRUE TRUE ENSG00000188596.11 . BCM GRCh38.p13 chr12 96743496 96743496 + G G A Silent SNP ENST00000524981.9 exon53 c.G7314A p.T2438T exonic ENSG00000188596.11 . synonymous SNV ENSG00000188596.11:ENST00000524981.9:exon53:c.G7314A:p.T2438T 12q23.1 C3L-01037 . . . . . . . . rs76379187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP54 325 1 413 46 0.100217864923747 TRUE NA ENSG00000142449.13 . BCM GRCh38.p13 chr19 8123495 8123495 + G G A Silent SNP ENST00000600128.6 exon24 c.C3051T p.F1017F exonic ENSG00000142449.13 . synonymous SNV ENSG00000142449.13:ENST00000600128.6:exon24:c.C3051T:p.F1017F 19p13.2 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54462252;OCCURENCE=1(stomach),1(pancreas),2(skin),1(prostate) FBN3 264 1 368 25 0.0636132315521628 TRUE TRUE ENSG00000130528.12 . BCM GRCh38.p13 chr19 49153594 49153594 + G G A Silent SNP ENST00000252825.9 exon1 c.C1644T p.D548D exonic ENSG00000130528.12 . synonymous SNV ENSG00000130528.12:ENST00000252825.9:exon1:c.C1644T:p.D548D 19q13.33 C3L-01037 5.073e-05 0 0 0.0005 0 2.186e-05 0 0 rs148687983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HRC 113 0 164 10 0.0574712643678161 TRUE NA ENSG00000125505.17 . BCM GRCh38.p13 chr19 54174302 54174302 + C C T Silent SNP ENST00000245615.6 exon8 c.G1161A p.L387L exonic ENSG00000125505.17 . synonymous SNV ENSG00000125505.17:ENST00000245615.6:exon8:c.G1161A:p.L387L 19q13.42 C3L-01037 2.497e-05 0 0 0 0 4.546e-05 0 0 rs150838100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MBOAT7 157 0 253 30 0.106007067137809 TRUE NA ENSG00000132622.11 . BCM GRCh38.p13 chr20 3749287 3749287 + C C T Silent SNP ENST00000254963.7 exon9 c.C906T p.G302G exonic ENSG00000132622.11 . synonymous SNV ENSG00000132622.11:ENST00000254963.7:exon9:c.C906T:p.G302G 20p13 C3L-01037 8.925e-06 0.0001 0 0 0 0 0 0 rs149068732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HSPA12B 359 0 472 31 0.0616302186878728 TRUE NA ENSG00000085224.22 . BCM GRCh38.p13 chrX 77693879 77693879 + C C A Silent SNP ENST00000373344.10 exon6 c.G429T p.G143G exonic ENSG00000085224.22 . synonymous SNV ENSG00000085224.22:ENST00000373344.10:exon6:c.G429T:p.G143G Xq21.1 C3L-01037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATRX 192 0 187 35 0.157657657657658 TRUE TRUE ENSG00000181215.15 . BCM GRCh38.p13 chr4 6036072 6036072 + C C T IGR SNP NA NA NA NA intergenic ENSG00000181215.15;ENSG00000152969.20 dist=46425;dist=17685 . . 4p16.1 C3L-01037 0.0033 0 0 0 0 0.0077 0 0 rs61734119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C4orf50 230 0 301 39 0.114705882352941 TRUE NA ENSG00000180758.12 . BCM GRCh38.p13 chr1 9105579 9105579 + G G C Missense_Mutation SNP ENST00000377411.5 exon3 c.C699G p.I233M exonic ENSG00000180758.12 . nonsynonymous SNV ENSG00000180758.12:ENST00000377411.5:exon3:c.C699G:p.I233M 1p36.22 C3N-03666 . . . . . . . . . 11.20 D D D P D D M T N 0.757 T T D 0.296 0.509 0.551 0.357 T T T T D D 3.311 24.100 0.995 D D 0.281 3.685 0.230 3.335 0.988 0.615 0.634 0.602 0.655 . 4.820 2.880 4.105 -0.190 -0.110 1.000 0.998 0.994 850 GPCR,_family_2-like . . . GPR157 151 0 236 21 0.0817120622568093 TRUE TRUE ENSG00000123473.15 . BCM GRCh38.p13 chr1 47300047 47300047 + C C G Missense_Mutation SNP ENST00000360380.7 exon7 c.G559C p.D187H exonic ENSG00000123473.15 . nonsynonymous SNV ENSG00000123473.15:ENST00000360380.7:exon7:c.G559C:p.D187H 1p33 C3N-03666 . . . . . . . . . 7.20 D D D P N N M T N 0.542 T T T 0.117 0.229 0.767 0.517 T T T T D D 3.413 24.400 0.994 D N 0.431 4.543 0.399 4.349 0.111 0.707 0.654 0.725 0.636 . 5.470 4.550 2.565 0.130 0.599 0.993 0.977 0.987 656 . . . . STIL 185 0 303 25 0.0762195121951219 TRUE TRUE ENSG00000187862.12 . BCM GRCh38.p13 chr1 156582378 156582378 + C C T Missense_Mutation SNP ENST00000368236.7 exon3 c.C854T p.A285V exonic ENSG00000187862.12 . nonsynonymous SNV ENSG00000187862.12:ENST00000368236.7:exon3:c.C854T:p.A285V 1q22 C3N-03666 9.127e-06 0.0001 0 0 0 0 0 0 rs574070584 3.20 T T B B N N L T N 0.293 T T D 0.149 0.435 0.577 0.301 T T T T D T 2.377 22.000 0.997 D N 0.081 2.810 0.098 2.726 1.000 0.387 0.655 0.573 0.542 . 4.380 3.450 3.509 0.138 0.599 0.842 0.383 0.872 697 Tetratricopeptide_repeat-containing_domain . . ID=COSV63998350;OCCURENCE=1(stomach) TTC24 284 0 526 39 0.0690265486725664 TRUE TRUE ENSG00000152382.6 . BCM GRCh38.p13 chr1 166876172 166876172 + T T A Missense_Mutation SNP ENST00000367874.5 exon1 c.A62T p.D21V exonic ENSG00000152382.6 . nonsynonymous SNV ENSG00000152382.6:ENST00000367874.5:exon1:c.A62T:p.D21V 1q24.1 C3N-03666 . . . . . . . . . 12.20 D D B B D D L T D 0.423 T T D 0.267 0.281 0.361 0.525 D T D T D D 3.741 25.600 0.976 D D -0.005 2.492 0.156 2.976 1.000 0.442 0.522 0.522 0.562 . 4.570 4.570 4.908 1.138 0.609 1.000 1.000 0.998 565 . . . . TADA1 167 0 301 84 0.218181818181818 TRUE TRUE ENSG00000135835.12 . BCM GRCh38.p13 chr1 180916242 180916242 + G G A Missense_Mutation SNP ENST00000367588.9 exon2 c.G139A p.G47R exonic ENSG00000135835.12 . nonsynonymous SNV ENSG00000135835.12:ENST00000367588.9:exon2:c.G139A:p.G47R 1q25.3 C3N-03666 . . . . . . . . . 2.20 T T D B N N N T D 0.330 T T T 0.085 0.090 0.099 0.762 T T T T T T 1.280 14.240 0.596 N N -0.643 0.912 -0.743 0.839 0.753 0.554 0.588 0.576 0.568 . 5.080 0.814 0.976 1.155 0.676 0.066 0.009 0.006 878 . . . . KIAA1614 90 0 165 11 0.0625 TRUE NA ENSG00000198626.17 . BCM GRCh38.p13 chr1 237648474 237648474 + C C T Missense_Mutation SNP ENST00000366574.7 exon49 c.C7373T p.A2458V exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon49:c.C7373T:p.A2458V 1q43 C3N-03666 1.153e-05 0 0 0 0 2.163e-05 0 0 rs768478443 18.19 D . D D D D M D D 0.792 D D D 0.773 0.336 0.926 0.978 T D D D D D 4.028 27.200 0.999 D D 0.805 8.888 0.766 9.196 0.906 0.554 0.574 0.602 0.564 . 5.160 5.160 6.066 1.026 0.599 1.000 0.999 0.996 889 . . . ID=COSV63683125;OCCURENCE=1(central_nervous_system),1(stomach),1(lung) RYR2 78 0 141 13 0.0844155844155844 TRUE TRUE ENSG00000115705.22 . BCM GRCh38.p13 chr2 1477149 1477149 + G G A Missense_Mutation SNP ENST00000329066.9 exon8 c.G883A p.A295T exonic ENSG00000115705.22 . nonsynonymous SNV ENSG00000115705.22:ENST00000329066.9:exon8:c.G883A:p.A295T 2p25.3 C3N-03666 1.048e-05 0 0 0.0001 0 0 0 0 rs772197481 4.20 T T P P D D L T N 0.068 T T D 0.265 0.668 0.830 0.319 T T T T T T 2.486 22.400 0.998 D N -0.047 2.348 -0.143 1.928 0.294 0.515 0.574 0.604 0.613 . 4.990 4.110 3.208 1.091 0.597 0.346 0.579 0.185 900 . . . ID=COSV61097198;OCCURENCE=1(oesophagus),2(pancreas),1(endometrium) TPO 275 0 260 34 0.115646258503401 TRUE TRUE ENSG00000152689.18 . BCM GRCh38.p13 chr2 33524505 33524505 + G G A Missense_Mutation SNP ENST00000403687.8 exon9 c.G764A p.R255H exonic ENSG00000152689.18 . nonsynonymous SNV ENSG00000152689.18:ENST00000403687.8:exon9:c.G764A:p.R255H 2p22.3 C3N-03666 . . . . . . . . . 18.20 D D D D D D H T D 0.982 D D D 0.831 0.946 0.952 0.610 T D D D D D 4.383 31 0.999 D D 1.117 18.289 1.037 21.327 1.000 0.707 0.725 0.574 0.595 . 5.700 5.700 9.598 1.176 0.671 1.000 0.994 0.995 760 Ras_guanine-nucleotide_exchange_factors_catalytic_domain . . ID=COSV101274728;OCCURENCE=1(stomach) RASGRP3 227 0 327 24 0.0683760683760684 TRUE NA ENSG00000187123.15 . BCM GRCh38.p13 chr2 149437785 149437785 + G G T Missense_Mutation SNP ENST00000334166.9 exon2 c.G77T p.R26L exonic ENSG00000187123.15 . nonsynonymous SNV ENSG00000187123.15:ENST00000334166.9:exon2:c.G77T:p.R26L 2q23.2 C3N-03666 . . . . . . . . . 11.20 D D D P D D L T D 0.851 T T T 0.196 0.375 0.407 0.595 T T D T D D 3.992 26.900 0.998 D D 0.674 6.769 0.683 7.451 0.519 0.693 0.547 0.659 0.668 . 5.630 4.750 6.368 1.176 0.618 1.000 1.000 0.982 537 . . . . LYPD6 278 0 401 49 0.108888888888889 TRUE TRUE ENSG00000153246.13 . BCM GRCh38.p13 chr2 159969258 159969258 + G G A Missense_Mutation SNP ENST00000283243.13 exon19 c.C2762T p.T921I exonic ENSG00000153246.13 . nonsynonymous SNV ENSG00000153246.13:ENST00000283243.13:exon19:c.C2762T:p.T921I 2q24.2 C3N-03666 . . . . . . . . . 13.20 D D D D D D M T N 0.799 T T T 0.252 0.496 0.593 0.409 T T D D D D 5.015 33 0.999 D D 0.755 7.956 0.746 8.717 1.000 0.626 0.574 0.547 0.634 . 5.800 5.800 6.070 1.176 0.676 1.000 0.962 0.973 642 C-type_lectin-like;C-type_lectin,_conserved_site . . . PLA2R1 74 0 146 19 0.115151515151515 TRUE TRUE ENSG00000124006.15 . BCM GRCh38.p13 chr2 219557507 219557507 + C C T Missense_Mutation SNP ENST00000404537.6 exon12 c.G3902A p.R1301H exonic ENSG00000124006.15 . nonsynonymous SNV ENSG00000124006.15:ENST00000404537.6:exon12:c.G3902A:p.R1301H 2q35 C3N-03666 0.0002 0 0 0 0 0 0 0.0004 rs746605175 5.19 T D D D . D L T N 0.497 T T D 0.317 0.412 0.850 0.752 T T T T T T 3.031 23.500 0.998 N N 0.360 4.104 0.291 3.666 1.000 0.635 0.574 0.644 0.563 . 3.900 3.900 0.881 1.026 0.599 0.071 0.989 0.978 114 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . OBSL1 101 0 136 15 0.0993377483443709 TRUE NA ENSG00000135905.19 . BCM GRCh38.p13 chr2 224837787 224837787 + T T C Missense_Mutation SNP ENST00000258390.11 exon25 c.A2825G p.D942G exonic ENSG00000135905.19 . nonsynonymous SNV ENSG00000135905.19:ENST00000258390.11:exon25:c.A2825G:p.D942G 2q36.2 C3N-03666 . . . . . . . . . 10.20 D D P P D D M T D 0.569 T T T 0.216 0.343 0.461 0.405 T T T T D D 4.505 32 0.998 D D 0.403 4.365 0.422 4.517 1.000 0.707 0.725 0.574 0.617 . 5.670 5.670 7.674 1.138 0.665 1.000 0.603 0.873 835 . . . . DOCK10 248 0 357 23 0.0605263157894737 TRUE TRUE ENSG00000134115.13 . BCM GRCh38.p13 chr3 1383384 1383384 + C C G Missense_Mutation SNP ENST00000446702.7 exon19 c.C2493G p.N831K exonic ENSG00000134115.13 . nonsynonymous SNV ENSG00000134115.13:ENST00000446702.7:exon19:c.C2493G:p.N831K 3p26.3 C3N-03666 . . . . . . . . . 4.20 D T P B N D N T N 0.479 T T T 0.098 0.373 0.778 0.007 T T T T T D 2.292 21.500 0.997 D N 0.130 3.007 0.267 3.528 0.863 0.487 0.574 0.547 0.564 . 5.740 5.740 0.343 1.026 0.549 0.970 1.000 0.997 938 Fibronectin_type_III . . . CNTN6 141 0 189 54 0.222222222222222 TRUE TRUE ENSG00000154814.14 . BCM GRCh38.p13 chr3 16286430 16286430 + C C T Missense_Mutation SNP ENST00000285083.10 exon5 c.C272T p.S91F exonic ENSG00000154814.14 . nonsynonymous SNV ENSG00000154814.14:ENST00000285083.10:exon5:c.C272T:p.S91F 3p25.1 C3N-03666 . . . . . . . . . 8.20 D D P P N D M T D 0.403 T T T 0.136 0.512 0.488 0.040 T T T T D D 3.289 24.100 0.998 D N 0.398 4.330 0.357 4.070 1.000 0.732 0.623 0.744 0.636 . 4.970 4.970 1.270 0.874 0.599 0.953 0.860 0.665 855 FAD-binding_domain,_ferredoxin_reductase-type . . . OXNAD1 168 0 270 22 0.0753424657534247 TRUE TRUE ENSG00000114841.17 . BCM GRCh38.p13 chr3 52396660 52396660 + C C T Missense_Mutation SNP ENST00000420323.6 exon72 c.C11473T p.H3825Y exonic ENSG00000114841.17 . nonsynonymous SNV ENSG00000114841.17:ENST00000420323.6:exon72:c.C11473T:p.H3825Y 3p21.1 C3N-03666 8.308e-06 0 0 0 0 0 0 6.093e-05 rs758459337 13.16 D D . . D D . T D 0.893 D T D 0.552 0.820 0.538 0.628 T . D D D D 3.096 23.600 0.998 D D 0.931 11.881 0.798 10.055 1.000 0.660 0.694 0.576 0.568 . 4.490 4.490 5.973 1.026 0.549 1.000 0.983 0.841 68 . . . ID=COSV104610470;OCCURENCE=1(skin) DNAH1 170 0 215 27 0.111570247933884 TRUE NA ENSG00000144857.14 . BCM GRCh38.p13 chr3 113249809 113249809 + C C T Missense_Mutation SNP ENST00000495514.5 exon3 c.C7T p.R3C exonic ENSG00000144857.14 . nonsynonymous SNV ENSG00000144857.14:ENST00000495514.5:exon3:c.C7T:p.R3C 3q13.2 C3N-03666 1.651e-05 0 0.0002 0 0 0 0 0 rs764634173 6.20 D D B B N D N D D 0.222 T T D 0.133 0.522 0.864 0.312 T T T T T T 1.853 18.120 0.998 N N -0.516 1.145 -0.408 1.357 1.000 0.706 0.563 0.710 0.530 . 5.200 4.330 1.599 1.026 0.597 0.046 0.028 0.122 421 . . . ID=COSV56358734;OCCURENCE=1(large_intestine) BOC 142 0 238 17 0.0666666666666667 TRUE TRUE ENSG00000174963.17 . BCM GRCh38.p13 chr3 147390947 147390947 + C C T Missense_Mutation SNP ENST00000383075.7 exon4 c.G988A p.A330T exonic ENSG00000174963.17 . nonsynonymous SNV ENSG00000174963.17:ENST00000383075.7:exon4:c.G988A:p.A330T 3q24 C3N-03666 . . . . . . . . . 1.19 T T B B N . N T N 0.069 T T T 0.022 0.227 0.354 0.487 T T T T T T 0.994 11.540 0.983 D N -1.056 0.347 -1.001 0.488 1.000 0.437 0.590 0.607 0.530 . 5.180 3.150 -0.253 0.096 0.524 0.000 0.243 0.321 898 . . . . ZIC4 104 0 157 31 0.164893617021277 TRUE NA ENSG00000121871.4 . BCM GRCh38.p13 chr3 165189207 165189207 + G G C Missense_Mutation SNP ENST00000475390.2 exon2 c.C1624G p.L542V exonic ENSG00000121871.4 . nonsynonymous SNV ENSG00000121871.4:ENST00000475390.2:exon2:c.C1624G:p.L542V 3q26.1 C3N-03666 . . . . . . . . . 10.20 D D B B N D M T D 0.739 T T T 0.197 0.370 0.676 0.352 T T D T D D 2.765 23.000 0.991 D D 0.355 4.075 0.460 4.812 1.000 0.615 0.574 0.659 0.564 . 5.810 5.810 3.539 1.176 0.676 1.000 0.987 0.980 902 . . . . SLITRK3 222 0 334 22 0.0617977528089888 TRUE TRUE ENSG00000169836.5 . BCM GRCh38.p13 chr4 103719480 103719480 + C C T Missense_Mutation SNP ENST00000304883.3 exon1 c.G196A p.A66T exonic ENSG00000169836.5 . nonsynonymous SNV ENSG00000169836.5:ENST00000304883.3:exon1:c.G196A:p.A66T 4q24 C3N-03666 . . . . . . . . . 0.20 T T B B N N L T N 0.050 T T T 0.112 0.245 0.741 0.315 T T T T T T 1.678 16.880 0.986 N N -0.701 0.812 -0.601 1.044 0.999 0.447 0.563 0.504 0.555 . 4.780 4.780 0.526 0.865 0.549 0.000 0.039 0.958 479 . . . . TACR3 121 0 157 19 0.107954545454545 TRUE TRUE ENSG00000196159.12 . BCM GRCh38.p13 chr4 125449688 125449688 + T T G Missense_Mutation SNP ENST00000674496.1 exon9 c.T8672G p.V2891G exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon9:c.T8672G:p.V2891G 4q28.1 C3N-03666 . . . . . . . . . 16.20 D D D D U D H T D 0.763 D D D 0.687 0.712 0.831 0.745 T D D D D T 3.923 26.500 0.996 D D 0.942 12.196 0.852 11.861 1.000 0.707 0.574 0.574 0.714 . 5.510 5.510 7.859 1.138 0.665 1.000 0.996 0.752 922 Cadherin-like . . . FAT4 147 0 227 14 0.0580912863070539 TRUE TRUE ENSG00000197410.14 . BCM GRCh38.p13 chr4 154490239 154490239 + G G A Missense_Mutation SNP ENST00000357232.10 exon1 c.C1117T p.R373C exonic ENSG00000197410.14 . nonsynonymous SNV ENSG00000197410.14:ENST00000357232.10:exon1:c.C1117T:p.R373C 4q31.3 C3N-03666 . . . . . . . . . 4.13 T D . . . D . T N 0.218 T T D 0.276 0.747 0.493 . . . T T T . 3.256 24.000 0.999 D N 0.147 3.076 0.074 2.632 1.000 0.549 0.627 0.504 0.530 . 4.700 3.860 0.726 1.097 0.580 0.182 0.950 0.624 883 Cadherin-like . . . DCHS2 346 0 528 48 0.0833333333333333 TRUE TRUE ENSG00000150625.16 . BCM GRCh38.p13 chr4 175673745 175673745 + C C A Missense_Mutation SNP ENST00000280187.11 exon4 c.G322T p.G108W exonic ENSG00000150625.16 . nonsynonymous SNV ENSG00000150625.16:ENST00000280187.11:exon4:c.G322T:p.G108W 4q34.2 C3N-03666 . . . . . . . . . 20.20 D D D D D D M D D 0.881 D D D 0.898 0.744 0.903 1.739 D D D D D D 4.090 27.700 0.996 D D 0.757 8.004 0.725 8.251 1.000 0.653 0.588 0.676 0.564 . 5.840 5.840 7.480 1.026 0.549 1.000 0.923 0.955 931 . . . ID=COSV99704812;OCCURENCE=1(skin) GPM6A 92 0 150 9 0.0566037735849057 TRUE TRUE ENSG00000170549.4 . BCM GRCh38.p13 chr5 3596316 3596316 + G G A Missense_Mutation SNP ENST00000302006.4 exon1 c.G211A p.A71T exonic ENSG00000170549.4 . nonsynonymous SNV ENSG00000170549.4:ENST00000302006.4:exon1:c.G211A:p.A71T 5p15.33 C3N-03666 0.0002 0 0 0 0 0.0004 0 0 rs753639527 3.20 T T P B U D N T N 0.374 T T D 0.058 . 0.757 . D T T T T T 1.864 18.210 0.944 N N -0.579 1.026 -0.537 1.142 1.000 0.598 0.547 0.666 0.639 . 1.780 0.867 1.350 0.092 -0.374 0.919 0.857 0.728 987 . . . . IRX1 90 0 113 24 0.175182481751825 TRUE NA ENSG00000080709.16 . BCM GRCh38.p13 chr5 114362926 114362926 + G G C Missense_Mutation SNP ENST00000264773.7 exon1 c.G151C p.A51P exonic ENSG00000080709.16 . nonsynonymous SNV ENSG00000080709.16:ENST00000264773.7:exon1:c.G151C:p.A51P 5q22.3 C3N-03666 . . . . . . . . . 6.20 T T B B N D N D N 0.292 D D D 0.330 0.286 0.269 0.561 D T T T T T 2.165 20.600 0.957 N N -0.424 1.332 -0.306 1.552 1.000 0.496 0.476 0.240 0.555 . 3.960 3.000 1.348 1.134 0.654 0.969 0.896 0.851 879 . . . . KCNN2 396 1 499 58 0.104129263913824 TRUE TRUE ENSG00000184838.15 . BCM GRCh38.p13 chr5 120686258 120686258 + G G A Missense_Mutation SNP ENST00000407149.7 exon2 c.G464A p.R155Q exonic ENSG00000184838.15 . nonsynonymous SNV ENSG00000184838.15:ENST00000407149.7:exon2:c.G464A:p.R155Q 5q23.1 C3N-03666 8.25e-06 9.63e-05 0 0 0 0 0 0 rs760368454 10.19 D D D P D D . T D 0.796 T T D 0.209 0.473 0.043 0.263 T T T T D T 3.243 24.000 0.999 D D 0.428 4.523 0.373 4.175 1.000 0.638 0.574 0.537 0.668 . 5.710 4.850 7.224 0.227 0.676 1.000 0.874 0.989 964 . . . ID=COSV65394805;OCCURENCE=2(large_intestine),1(NS),9(skin) PRR16 243 0 302 27 0.0820668693009119 TRUE TRUE ENSG00000138829.12 . BCM GRCh38.p13 chr5 128263534 128263534 + C C T Missense_Mutation SNP ENST00000262464.9 exon63 c.G8083A p.D2695N exonic ENSG00000138829.12 . nonsynonymous SNV ENSG00000138829.12:ENST00000262464.9:exon63:c.G8083A:p.D2695N 5q23.3 C3N-03666 3.296e-05 0 0 0 0.0003 2.997e-05 0 0 rs775607402 16.19 D . D D D D L D D 0.866 D D D 0.653 0.882 0.842 0.487 T D D T D D 3.901 26.400 0.999 D D 0.581 5.737 0.495 5.115 1.000 0.732 0.574 0.805 0.728 . 5.240 5.240 7.905 1.026 0.599 1.000 0.270 0.483 749 EGF-like_domain;EGF-like_calcium-binding,_conserved_site;EGF-like_calcium-binding_domain . . ID=COSV52554909;OCCURENCE=1(central_nervous_system),1(endometrium) FBN2 473 0 578 66 0.102484472049689 TRUE NA ENSG00000158987.21 . BCM GRCh38.p13 chr5 131492625 131492625 + G G C Missense_Mutation SNP ENST00000509018.5 exon14 c.C1688G p.P563R exonic ENSG00000158987.21;ENSG00000273217.1 . nonsynonymous SNV ENSG00000158987.21:ENST00000509018.5:exon14:c.C1688G:p.P563R,ENSG00000273217.1:ENST00000514667.1:exon15:c.C1838G:p.P613R 5q31.1 C3N-03666 . . . . . . . . . 2.20 T T B B N N L T N 0.348 T T T 0.084 0.615 0.225 0.231 T T T T T D 2.392 22.100 0.995 D N 0.118 2.960 0.288 3.650 1.000 0.651 0.654 0.659 0.684 . 6.040 6.040 1.830 1.176 0.676 0.819 0.999 0.999 387 PDZ_domain . . . RAPGEF6 307 5 481 27 0.0531496062992126 TRUE TRUE ENSG00000081818.4 . BCM GRCh38.p13 chr5 141123755 141123755 + C C A Missense_Mutation SNP ENST00000194152.4 exon1 c.C1757A p.T586N exonic ENSG00000081818.4 . nonsynonymous SNV ENSG00000081818.4:ENST00000194152.4:exon1:c.C1757A:p.T586N 5q31.3 C3N-03666 . . . . . . . . . 10.19 D D D P . D M T D 0.415 D T T 0.178 0.709 0.417 . T T T T D D 2.683 22.800 0.989 D N 0.254 3.553 0.060 2.577 0.001 0.554 0.574 0.602 0.621 . 3.770 1.840 0.989 -0.353 0.306 0.006 0.993 0.967 523 Cadherin-like . . . PCDHB4 859 1 896 106 0.105788423153693 NA TRUE ENSG00000113209.9 . BCM GRCh38.p13 chr5 141136221 141136221 + G G A Missense_Mutation SNP ENST00000231134.8 exon1 c.G787A p.V263I exonic ENSG00000113209.9 . nonsynonymous SNV ENSG00000113209.9:ENST00000231134.8:exon1:c.G787A:p.V263I 5q31.3 C3N-03666 8.27e-06 0 0 0 0 0 0 6.09e-05 rs782126497 0.14 T T . . . N . T N 0.037 T T T 0.075 0.545 0.158 0.211 T . T T T . 0.024 1.492 0.862 N N -1.286 0.173 -1.336 0.186 0.955 0.609 0.547 0.731 0.621 . 5.370 -5.750 -1.130 0.193 0.590 0.000 0.005 0.008 548 . . . ID=COSV50658443;OCCURENCE=1(adrenal_gland),3(large_intestine),1(skin) PCDHB5 149 1 167 21 0.111702127659574 TRUE TRUE ENSG00000120318.16 . BCM GRCh38.p13 chr5 141670057 141670057 + G G A Missense_Mutation SNP ENST00000239440.9 exon15 c.C2114T p.P705L exonic ENSG00000120318.16 . nonsynonymous SNV ENSG00000120318.16:ENST00000239440.9:exon15:c.C2114T:p.P705L 5q31.3 C3N-03666 0.0003 0 0.0029 0 0 1.528e-05 0 6.12e-05 rs756578535 4.20 D T D P N D L T N 0.138 T T T 0.023 0.379 0.359 0.325 T T T T T D 1.426 15.250 0.994 N N -0.437 1.303 -0.447 1.290 1.000 0.732 0.574 0.744 0.711 . 5.140 2.220 0.888 -0.183 0.676 0.833 0.639 0.778 732 Pleckstrin_homology_domain . . . ARAP3 102 0 147 13 0.08125 TRUE NA ENSG00000196569.12 . BCM GRCh38.p13 chr6 129486505 129486505 + G G A Missense_Mutation SNP ENST00000421865.2 exon56 c.G7781A p.R2594H exonic ENSG00000196569.12 . nonsynonymous SNV ENSG00000196569.12:ENST00000421865.2:exon56:c.G7781A:p.R2594H 6q22.33 C3N-03666 2.475e-05 0 0 0 0 3e-05 0 6.058e-05 rs368311592 8.19 T . D D N D L T N 0.663 T T D 0.426 . 0.864 0.512 T T T D D D 3.292 24.100 0.942 D N 0.570 5.632 0.590 6.100 1.000 0.554 0.547 0.618 0.421 . 5.600 5.600 3.678 1.176 0.618 0.985 1.000 0.998 763 Laminin_G_domain . . . LAMA2 304 0 464 37 0.0738522954091816 TRUE NA ENSG00000074771.4 . BCM GRCh38.p13 chr6 155422783 155422783 + C C T Missense_Mutation SNP ENST00000159060.3 exon10 c.G1219A p.A407T exonic ENSG00000074771.4 . nonsynonymous SNV ENSG00000074771.4:ENST00000159060.3:exon10:c.G1219A:p.A407T 6q25.3 C3N-03666 0.0001 0.0013 0 0 0 0 0 0 rs76198873 4.20 T T B B N N L T D 0.368 T T D 0.176 . 0.739 0.072 T D T T T T 0.990 11.490 0.965 D N -0.660 0.881 -0.668 0.946 0.004 0.428 0.547 0.547 0.613 . 5.810 1.020 2.579 -0.666 -0.185 0.982 0.002 0.026 928 Ferric_reductase,_NAD_binding_domain . . ID=COSV99342986;OCCURENCE=2(central_nervous_system) NOX3 180 0 297 29 0.0889570552147239 TRUE NA ENSG00000198286.9 . BCM GRCh38.p13 chr7 2944271 2944271 + C C T Missense_Mutation SNP ENST00000396946.8 exon5 c.G625A p.A209T exonic ENSG00000198286.9 . nonsynonymous SNV ENSG00000198286.9:ENST00000396946.8:exon5:c.G625A:p.A209T 7p22.2 C3N-03666 . . . . . . . . . 9.20 T T P B D D L T D 0.802 T T D 0.157 0.119 0.543 1.917 T D T T D D 3.119 23.700 0.999 D D 0.324 3.905 0.360 4.089 1.000 0.707 0.702 0.805 0.714 . 4.160 4.160 7.401 1.026 0.599 1.000 1.000 0.932 970 . . . ID=COSV62717219;OCCURENCE=1(breast),1(genital_tract) CARD11 274 1 347 25 0.0672043010752688 TRUE TRUE ENSG00000197123.9 . BCM GRCh38.p13 chr7 64260227 64260227 + T T G Missense_Mutation SNP ENST00000421025.3 exon3 c.T46G p.L16V exonic ENSG00000197123.9 . nonsynonymous SNV ENSG00000197123.9:ENST00000421025.3:exon3:c.T46G:p.L16V 7q11.21 C3N-03666 . . . . . . . . . 1.19 D T B B . N L T N 0.142 T T T 0.066 0.583 0.270 0.017 T T T T T T 0.631 7.809 0.808 N N -1.101 0.306 -1.192 0.290 0.000 0.487 0.574 0.574 0.564 . 0.195 0.195 -0.312 -0.237 0.336 0.045 0.004 0.031 851 Krueppel-associated_box . . . ZNF679 145 0 243 26 0.0966542750929368 TRUE TRUE ENSG00000077063.11 . BCM GRCh38.p13 chr7 117810800 117810800 + C C T Missense_Mutation SNP ENST00000160373.8 exon3 c.G379A p.A127T exonic ENSG00000077063.11 . nonsynonymous SNV ENSG00000077063.11:ENST00000160373.8:exon3:c.G379A:p.A127T 7q31.31 C3N-03666 0.0002 0.0026 8.64e-05 0 0 1.499e-05 0 6.056e-05 rs143605688 2.20 T T B B N D L T N 0.129 T T T 0.072 . 0.285 0.094 T T T T T T 1.055 12.290 0.852 D N -0.682 0.844 -0.579 1.078 1.000 0.742 0.590 0.775 0.564 . 5.770 -1.770 0.552 -0.345 -0.313 0.715 0.979 0.986 829 Cortactin-binding_protein-2,_N-terminal . . ID=COSV50392180;OCCURENCE=1(large_intestine) CTTNBP2 239 0 312 75 0.193798449612403 TRUE TRUE ENSG00000091879.14 . BCM GRCh38.p13 chr8 6519898 6519898 + G G A Missense_Mutation SNP ENST00000325203.9 exon5 c.C896T p.T299M exonic ENSG00000091879.14 . nonsynonymous SNV ENSG00000091879.14:ENST00000325203.9:exon5:c.C896T:p.T299M 8p23.1 C3N-03666 0.0002 0.0018 8.637e-05 0 0 4.496e-05 0 0 rs61733318 13.20 D D D D D D M T D 0.306 D D D 0.189 . 0.833 0.059 T T T T T T 2.524 22.500 0.963 D D 0.052 2.700 0.010 2.393 1.000 0.632 0.547 0.574 0.742 . 5.240 4.370 5.146 -0.134 -0.127 1.000 0.079 0.337 967 Fibrinogen,_alpha/beta/gamma_chain,_C-terminal_globular_domain . . . ANGPT2 134 0 173 53 0.234513274336283 TRUE NA ENSG00000165084.16 . BCM GRCh38.p13 chr8 68521911 68521911 + T T A Missense_Mutation SNP ENST00000518698.6 exon6 c.T878A p.I293N exonic ENSG00000165084.16 . nonsynonymous SNV ENSG00000165084.16:ENST00000518698.6:exon6:c.T878A:p.I293N 8q13.2 C3N-03666 . . . . . . . . . 7.18 D D P P N N L T D 0.393 T T T 0.056 0.129 0.550 0.545 . . T T D D 2.922 23.300 0.993 D D 0.044 2.671 0.107 2.765 0.010 0.554 0.574 0.602 0.564 . 5.590 4.440 5.112 1.138 0.665 1.000 0.926 0.975 652 . . . . C8orf34 89 0 207 22 0.0960698689956332 TRUE TRUE ENSG00000091656.19 . BCM GRCh38.p13 chr8 76851215 76851215 + C C T Missense_Mutation SNP ENST00000651372.2 exon10 c.C4294T p.R1432C exonic ENSG00000091656.19 . nonsynonymous SNV ENSG00000091656.19:ENST00000651372.2:exon10:c.C4294T:p.R1432C 8q21.13 C3N-03666 0.0001 0 0.0010 0 0 6.039e-05 0 0 rs761737101 11.16 D D . . U D . T D 0.579 T T D 0.366 . 0.165 0.675 D . T D D D 3.838 26.000 0.998 D D 0.729 7.542 0.690 7.568 1.000 0.638 0.627 0.618 0.668 . 4.940 4.940 5.044 1.026 0.599 1.000 0.998 0.996 801 Zinc_finger_C2H2-type . . ID=COSV50854696;OCCURENCE=1(cervix),1(stomach) ZFHX4 171 0 258 53 0.170418006430868 TRUE TRUE ENSG00000104447.12 . BCM GRCh38.p13 chr8 115418392 115418392 + G G A Nonsense_Mutation SNP ENST00000640765.1 exon5 c.C2722T p.R908X exonic ENSG00000104447.12 . stopgain ENSG00000104447.12:ENST00000640765.1:exon5:c.C2722T:p.R908X 8q23.3 C3N-03666 . . . . . . . . . 6.7 . . . . D A . . . 0.952 . . . . . . . . . D D D . 7.598 38 0.998 D N 0.760 8.057 0.635 6.694 1.000 0.638 0.588 0.659 0.668 . 5.810 4.920 3.376 1.176 0.676 1.000 1.000 1.000 935 Zinc_finger,_GATA-type . . ID=COSV55227212;OCCURENCE=5(large_intestine) TRPS1 497 0 747 126 0.144329896907216 TRUE TRUE ENSG00000119121.22 . BCM GRCh38.p13 chr9 74840231 74840231 + T T C Missense_Mutation SNP ENST00000360774.6 exon5 c.A337G p.R113G exonic ENSG00000119121.22 . nonsynonymous SNV ENSG00000119121.22:ENST00000360774.6:exon5:c.A337G:p.R113G 9q21.13 C3N-03666 . . . . . . . . . 15.20 D D D D D D H T D 0.927 T T D 0.474 0.719 0.420 1.025 T D D D D D 3.204 23.900 0.997 D N 0.220 3.392 0.070 2.616 0.000 0.554 0.588 0.547 0.564 . 5.860 0.058 1.156 -0.160 -0.126 0.843 0.974 0.990 648 . . . . TRPM6 257 0 289 41 0.124242424242424 TRUE TRUE ENSG00000214929.4 . BCM GRCh38.p13 chr9 81994315 81994315 + G G T Missense_Mutation SNP ENST00000344803.3 exon4 c.G3845T p.C1282F exonic ENSG00000214929.4 . nonsynonymous SNV ENSG00000214929.4:ENST00000344803.3:exon4:c.G3845T:p.C1282F 9q21.32 C3N-03666 . . . . . . . . . 2.20 T T P B U N L T D 0.240 T T T 0.088 0.476 0.247 . T T T T D T 1.069 12.450 0.944 N N -0.882 0.543 -1.039 0.442 0.000 0.554 0.588 0.574 0.564 . 3.260 0.356 0.374 -0.126 -0.308 0.000 0.000 0.000 920 . . . . SPATA31D1 190 0 242 34 0.123188405797101 TRUE TRUE ENSG00000187239.17 . BCM GRCh38.p13 chr9 129900511 129900511 + G G A Missense_Mutation SNP ENST00000446176.7 exon14 c.C1465T p.R489C exonic ENSG00000187239.17 . nonsynonymous SNV ENSG00000187239.17:ENST00000446176.7:exon14:c.C1465T:p.R489C 9q34.11 C3N-03666 . . . . . . . . rs367878072 10.20 D D P P D N M T D 0.667 D T D 0.337 . 0.715 0.538 T T T T D D 3.123 23.700 0.999 D N 0.104 2.902 0.020 2.427 1.000 0.706 0.602 0.710 0.636 . 4.020 4.020 2.119 1.163 0.616 0.912 0.092 0.262 450 . . . . FNBP1 69 0 87 16 0.155339805825243 TRUE NA ENSG00000148357.16 . BCM GRCh38.p13 chr9 130403223 130403223 + G G A Missense_Mutation SNP ENST00000624552.3 exon79 c.G11848A p.V3950M exonic ENSG00000148357.16 . nonsynonymous SNV ENSG00000148357.16:ENST00000624552.3:exon79:c.G11848A:p.V3950M 9q34.11 C3N-03666 0.0021 0 0 0 0 0 0 0.0036 rs529803970 0.11 . T . . . . . . . 0.141 T T T 0.062 . 0.061 . . T T T T T 0.393 5.344 0.996 N N -0.585 1.016 -0.762 0.812 0.062 0.646 0.590 0.645 0.563 . 5.290 -1.280 -0.138 1.176 0.618 0.001 0.809 0.071 378 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV52983702;OCCURENCE=2(prostate) HMCN2 159 0 218 21 0.0878661087866109 NA TRUE ENSG00000107611.16 . BCM GRCh38.p13 chr10 17111008 17111008 + C C A Missense_Mutation SNP ENST00000377833.10 exon9 c.G926T p.C309F exonic ENSG00000107611.16 . nonsynonymous SNV ENSG00000107611.16:ENST00000377833.10:exon9:c.G926T:p.C309F 10p13 C3N-03666 . . . . . . . . . 19.20 D D D D D D H D D 0.960 D D D 0.976 0.968 0.919 0.549 T D D D D D 3.600 25.000 0.993 D D 1.105 17.706 0.999 18.806 1.000 0.556 0.574 0.685 0.613 . 5.830 5.830 7.763 1.026 0.599 1.000 0.982 0.983 750 EGF-like_domain;EGF-like_calcium-binding_domain . . . CUBN 428 0 648 53 0.0756062767475036 TRUE TRUE ENSG00000177697.19 . BCM GRCh38.p13 chr11 836787 836787 + A A C Missense_Mutation SNP ENST00000397420.9 exon5 c.A295C p.I99L exonic ENSG00000177697.19 . nonsynonymous SNV ENSG00000177697.19:ENST00000397420.9:exon5:c.A295C:p.I99L 11p15.5 C3N-03666 4.182e-05 0 0 0.0001 0 3.057e-05 0 0.0001 rs777391775 2.20 T T B B N D N T N 0.449 T T T 0.304 0.616 0.349 0.141 T T T T T T -1.208 0.002 0.712 N D -1.991 0.009 -2.025 0.012 1.000 0.722 0.607 0.644 0.735 . 4.610 -9.230 -1.720 -2.178 -2.641 0.000 0.019 0.033 856 . . . ID=COSV100431921;OCCURENCE=1(kidney) CD151 290 1 425 47 0.0995762711864407 TRUE NA ENSG00000129151.9 . BCM GRCh38.p13 chr11 27125679 27125679 + C C T Missense_Mutation SNP ENST00000263182.8 exon8 c.C862T p.R288C exonic ENSG00000129151.9 . nonsynonymous SNV ENSG00000129151.9:ENST00000263182.8:exon8:c.C862T:p.R288C 11p14.2 C3N-03666 . . . . . . . . . 19.20 D D D D D D M D D 0.863 D D D 0.760 . 0.873 0.476 T D D D D D 4.124 28.000 0.999 D D 0.819 9.160 0.807 10.338 0.647 0.487 0.574 0.574 0.564 . 6.030 6.030 4.449 1.026 0.599 1.000 0.999 0.997 761 TauD/TfdA-like_domain . . ID=COSV54191958;OCCURENCE=1(large_intestine) BBOX1 105 0 136 17 0.111111111111111 TRUE TRUE ENSG00000149115.14 . BCM GRCh38.p13 chr11 57308885 57308885 + C C T Missense_Mutation SNP ENST00000358252.8 exon6 c.G3826A p.V1276I exonic ENSG00000149115.14 . nonsynonymous SNV ENSG00000149115.14:ENST00000358252.8:exon6:c.G3826A:p.V1276I 11q12.1 C3N-03666 . . . . . . . . . 7.20 D T D D D N M T N 0.481 T T T 0.118 . 0.501 0.398 T T T T D T 3.515 24.800 0.998 D N 0.392 4.293 0.298 3.705 1.000 0.672 0.644 0.702 0.711 . 4.990 4.990 3.870 1.026 0.599 0.968 0.854 0.957 440 . . . . TNKS1BP1 320 1 497 28 0.0533333333333333 TRUE NA ENSG00000011347.10 . BCM GRCh38.p13 chr11 61518664 61518664 + C C T Missense_Mutation SNP ENST00000263846.8 exon9 c.G1175A p.R392Q exonic ENSG00000011347.10 . nonsynonymous SNV ENSG00000011347.10:ENST00000263846.8:exon9:c.G1175A:p.R392Q 11q12.2 C3N-03666 . . . . . . . . . 13.20 D D D P N D M T D 0.643 D T D 0.518 0.513 0.845 2.024 T D T T D D 3.752 25.600 0.999 D D 0.295 3.751 0.185 3.109 1.000 0.696 0.590 0.723 0.613 . 3.480 2.570 5.724 1.026 -0.232 1.000 1.000 0.960 728 C2_domain;Synaptotagmin_7,_C2B_domain . . . SYT7 138 0 212 21 0.0901287553648069 TRUE TRUE ENSG00000126838.10 . BCM GRCh38.p13 chr12 9202362 9202362 + C C T Missense_Mutation SNP ENST00000261336.7 exon4 c.G437A p.R146H exonic ENSG00000126838.10 . nonsynonymous SNV ENSG00000126838.10:ENST00000261336.7:exon4:c.G437A:p.R146H 12p13.31 C3N-03666 9.896e-05 0 0 0 0 0.0002 0 0 rs377706010 10.20 D D D D U N H T D 0.609 T D T 0.354 . 0.701 0.277 T D T T D D 2.877 23.200 0.999 N N -0.273 1.682 -0.544 1.132 0.000 0.487 0.590 0.574 0.542 . 2.440 1.540 1.139 0.710 0.454 0.032 0.088 0.634 661 Alpha-2-macroglobulin,_N-terminal . . ID=COSV54365920;OCCURENCE=1(stomach) PZP 135 0 186 31 0.142857142857143 TRUE TRUE ENSG00000212126.3 . BCM GRCh38.p13 chr12 10986817 10986817 + A A G Missense_Mutation SNP ENST00000506868.1 exon1 c.T44C p.V15A exonic ENSG00000212126.3 . nonsynonymous SNV ENSG00000212126.3:ENST00000506868.1:exon1:c.T44C:p.V15A 12p13.2 C3N-03666 . . . . . . . . . 0.19 T T B B N N L T N 0.021 T T T 0.067 0.680 0.130 0.018 T T T T T . -0.679 0.049 0.576 N N -1.272 0.180 -1.416 0.144 0.001 0.487 0.547 0.574 0.613 . 2.490 -4.510 -1.407 -0.500 -0.117 0.000 0.000 0.000 929 . . . . TAS2R50 54 0 80 7 0.0804597701149425 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-03666 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 242 0 359 67 0.157276995305164 TRUE TRUE ENSG00000133704.10 . BCM GRCh38.p13 chr12 30656733 30656733 + C C A Missense_Mutation SNP ENST00000256079.9 exon17 c.G1899T p.E633D exonic ENSG00000133704.10 . nonsynonymous SNV ENSG00000133704.10:ENST00000256079.9:exon17:c.G1899T:p.E633D 12p11.21 C3N-03666 . . . . . . . . . 11.20 D D D P D D M T N 0.838 T T D 0.330 0.472 0.611 0.539 T T D T D D 3.633 25.200 0.998 D N 0.404 4.368 0.310 3.775 0.959 0.732 0.710 0.659 0.728 . 4.570 4.570 0.587 1.026 0.599 0.997 1.000 0.998 964 . . . . IPO8 92 0 182 13 0.0666666666666667 TRUE TRUE ENSG00000178882.15 . BCM GRCh38.p13 chr12 124314389 124314389 + C C T Missense_Mutation SNP ENST00000546355.4 exon3 c.C515T p.P172L exonic ENSG00000178882.15 . nonsynonymous SNV ENSG00000178882.15:ENST00000546355.4:exon3:c.C515T:p.P172L 12q24.31 C3N-03666 . . . . . . . . . 15.18 D D D D D D . . D 0.947 D T D 0.688 0.759 0.319 1.097 T T D D D D 4.035 27.200 0.999 D D 0.772 8.265 0.710 7.943 1.000 0.707 0.588 0.645 0.714 . 4.700 4.700 7.442 1.026 0.599 1.000 0.996 0.951 559 . . . . RFLNA 553 1 611 123 0.167574931880109 TRUE TRUE ENSG00000136099.13 . BCM GRCh38.p13 chr13 52847874 52847874 + C C T Missense_Mutation SNP ENST00000377942.7 exon1 c.G563A p.R188Q exonic ENSG00000136099.13 . nonsynonymous SNV ENSG00000136099.13:ENST00000377942.7:exon1:c.G563A:p.R188Q 13q14.3 C3N-03666 . . . . . . . . . 13.20 D T D D D D L T D 0.745 T T D 0.290 0.374 0.594 . D T D T D D 3.903 26.400 0.998 D D 0.482 4.897 0.455 4.778 1.000 0.598 0.590 0.608 0.639 . 4.340 4.340 4.939 1.018 0.591 1.000 0.998 0.933 372 Cadherin-like . . . PCDH8 99 0 132 21 0.137254901960784 TRUE TRUE ENSG00000150361.12 . BCM GRCh38.p13 chr13 69719373 69719373 + C C G Missense_Mutation SNP ENST00000377844.9 exon9 c.G2011C p.E671Q exonic ENSG00000150361.12 . nonsynonymous SNV ENSG00000150361.12:ENST00000377844.9:exon9:c.G2011C:p.E671Q 13q21.33 C3N-03666 . . . . . . . . . 19.20 D D D D D D M D D 0.942 D D D 0.841 0.551 0.961 0.372 T D D D D D 3.952 26.700 0.998 D D 0.888 10.739 0.857 12.036 1.000 0.487 0.574 0.574 0.564 . 5.820 5.820 7.905 1.026 0.599 1.000 1.000 0.994 965 . . . . KLHL1 141 0 266 18 0.0633802816901408 TRUE NA ENSG00000150361.12 . BCM GRCh38.p13 chr13 69719448 69719448 + C C T Missense_Mutation SNP ENST00000377844.9 exon9 c.G1936A p.D646N exonic ENSG00000150361.12 . nonsynonymous SNV ENSG00000150361.12:ENST00000377844.9:exon9:c.G1936A:p.D646N 13q21.33 C3N-03666 . . . . . . . . . 5.20 T T B B D D N T N 0.309 T T T 0.296 0.595 0.780 0.059 T T T T D D 2.114 20.200 0.481 D N -0.399 1.385 -0.098 2.052 0.977 0.487 0.574 0.574 0.564 . 5.680 5.680 3.385 1.026 0.599 0.999 0.845 0.889 965 . . . . KLHL1 306 0 617 53 0.0791044776119403 TRUE TRUE ENSG00000150361.12 . BCM GRCh38.p13 chr13 69719503 69719503 + C C G Missense_Mutation SNP ENST00000377844.9 exon9 c.G1881C p.W627C exonic ENSG00000150361.12 . nonsynonymous SNV ENSG00000150361.12:ENST00000377844.9:exon9:c.G1881C:p.W627C 13q21.33 C3N-03666 . . . . . . . . . 20.20 D D D D D D H D D 0.973 D D D 0.935 0.816 0.983 0.465 D D D D D D 4.388 31 0.993 D D 1.173 21.531 1.062 23.260 1.000 0.487 0.574 0.574 0.564 . 5.820 5.820 7.905 1.026 0.599 1.000 1.000 0.999 965 . . . . KLHL1 275 0 562 38 0.0633333333333333 TRUE TRUE ENSG00000134900.12 . BCM GRCh38.p13 chr13 102636368 102636368 + G G C Missense_Mutation SNP ENST00000376065.8 exon13 c.G1654C p.E552Q exonic ENSG00000134900.12 . nonsynonymous SNV ENSG00000134900.12:ENST00000376065.8:exon13:c.G1654C:p.E552Q 13q33.1 C3N-03666 . . . . . . . . . 11.19 D T D P D D M . N 0.845 T T T 0.279 0.429 0.289 1.550 T T D D D D 4.000 27.000 0.998 D D 0.773 8.283 0.827 10.957 1.000 0.707 0.725 0.725 0.714 . 6.040 6.040 9.602 1.176 0.618 1.000 1.000 0.997 920 . . . . TPP2 120 0 221 20 0.0829875518672199 TRUE TRUE ENSG00000041515.16 . BCM GRCh38.p13 chr13 109127448 109127448 + C C A Missense_Mutation SNP ENST00000356711.7 exon31 c.C3883A p.Q1295K exonic ENSG00000041515.16 . nonsynonymous SNV ENSG00000041515.16:ENST00000356711.7:exon31:c.C3883A:p.Q1295K 13q33.3 C3N-03666 . . . . . . . . . 11.19 D D D D U D M T N 0.661 T T D 0.209 0.238 0.550 0.830 T T D T D . 3.717 25.500 0.996 D D 0.778 8.356 0.756 8.951 1.000 0.487 0.547 0.547 0.564 . 5.500 5.500 7.048 1.026 0.599 1.000 0.998 0.963 981 Neuronal_tyrosine-phosphorylated_phosphoinositide-3-kinase_adapter,_N-terminal . . . MYO16 220 0 361 34 0.0860759493670886 TRUE TRUE ENSG00000066735.14 . BCM GRCh38.p13 chr14 104175262 104175262 + G G A Missense_Mutation SNP ENST00000423312.6 exon12 c.G2474A p.R825Q exonic ENSG00000066735.14 . nonsynonymous SNV ENSG00000066735.14:ENST00000423312.6:exon12:c.G2474A:p.R825Q 14q32.33 C3N-03666 8.367e-05 0.0001 0.0007 0 0 1.676e-05 0 0 rs756312971 5.19 D T B B . N M T D 0.123 T T D 0.162 0.285 0.921 0.095 T T T T T T 2.300 21.600 0.999 D N -0.407 1.367 -0.357 1.452 0.814 0.696 0.588 0.723 0.700 . 3.810 1.870 0.347 1.079 0.672 0.322 0.597 0.251 557 . . . . KIF26A 294 0 447 40 0.082135523613963 TRUE NA ENSG00000215252.11 . BCM GRCh38.p13 chr15 34527972 34527972 + C C A Missense_Mutation SNP ENST00000342314.9 exon15 c.G1559T p.S520I exonic ENSG00000215252.11 . nonsynonymous SNV ENSG00000215252.11:ENST00000342314.9:exon15:c.G1559T:p.S520I 15q14 C3N-03666 . . . . . . . . . 4.19 D D P B . N L T D 0.100 T T T 0.017 0.293 0.048 . T T T T D T 0.074 1.870 0.986 N N -0.805 0.648 -1.042 0.439 0.000 0.693 0.659 0.659 0.668 . 1.460 -1.130 -0.801 -0.650 0.185 0.000 0.000 0.002 420 . . . . GOLGA8B 40 0 46 10 0.178571428571429 NA TRUE ENSG00000140506.17 . BCM GRCh38.p13 chr15 74823573 74823573 + G G A Missense_Mutation SNP ENST00000309664.10 exon12 c.G1214A p.R405H exonic ENSG00000140506.17 . nonsynonymous SNV ENSG00000140506.17:ENST00000309664.10:exon12:c.G1214A:p.R405H 15q24.1 C3N-03666 0.0001 0 0 0.0003 0 0 0 0.0007 rs543907196 0.20 T T B B N N L T N 0.159 T T T 0.018 0.359 0.165 0.088 T T T T T T 0.038 1.590 0.865 N N -1.172 0.248 -1.238 0.253 1.000 0.497 0.590 0.578 0.613 . 5.180 -5.190 -0.885 0.224 0.676 0.000 0.821 0.426 308 . . . . LMAN1L 204 0 307 32 0.0943952802359882 TRUE NA ENSG00000167977.9 . BCM GRCh38.p13 chr16 2682589 2682589 + G G A Missense_Mutation SNP ENST00000301738.9 exon1 c.G41A p.G14D exonic ENSG00000167977.9 . nonsynonymous SNV ENSG00000167977.9:ENST00000301738.9:exon1:c.G41A:p.G14D 16p13.3 C3N-03666 . . . . . . . . . 6.20 D D D P N N N T N 0.221 T T D 0.085 0.299 0.582 0.831 D T T T D T 2.893 23.200 0.974 N N -0.159 1.996 -0.199 1.788 1.000 0.442 0.522 0.522 0.373 . 4.390 2.340 2.704 -0.147 -0.683 0.847 0.061 0.003 825 . . . . KCTD5 32 0 66 16 0.195121951219512 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673802 7673802 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G818A p.R273H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G818A:p.R273H 17p13.1 C3N-03666 2.628e-05 0 0 0 0 4.746e-05 0 0 rs28934576 19.20 D D D D D A M D D 0.965 D D D 0.868 . 0.997 0.264 T D D D D D 3.527 24.800 0.998 D D 0.383 4.238 0.333 3.915 1.000 0.722 0.702 0.725 0.735 . 4.920 4.920 7.905 1.022 0.596 1.000 0.856 0.980 432 p53,_DNA-binding_domain . . ID=COSV52660980;OCCURENCE=3(salivary_gland),135(breast),5(penis),9(liver),2(genital_tract),55(oesophagus),3(adrenal_gland),1(cervix),301(large_intestine),84(central_nervous_system),18(biliary_tract),1(fallopian_tube),1(pleura),4(vulva),73(ovary),8(bone),6(NS),57(haematopoietic_and_lymphoid_tissue),60(stomach),23(urinary_tract),7(soft_tissue),9(kidney),55(pancreas),15(skin),22(prostate),111(lung),11(thyroid),66(upper_aerodigestive_tract),2(thymus),41(endometrium) TP53 565 1 617 149 0.194516971279373 TRUE TRUE ENSG00000004139.14 . BCM GRCh38.p13 chr17 28372451 28372451 + - NA CT Frame_Shift_Ins INS ENST00000585482.6 exon1 c.419_420insCT p.R141Cfs*28 exonic ENSG00000004139.14 . frameshift insertion ENSG00000004139.14:ENST00000585482.6:exon1:c.419_420insCT:p.R141Cfs*28 17q11.2 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SARM1 NA NA NA NA NA NA NA ENSG00000176160.11 . BCM GRCh38.p13 chr17 58488014 58488014 + G G T Nonsense_Mutation SNP ENST00000323777.8 exon1 c.C261A p.Y87X exonic ENSG00000176160.11 . stopgain ENSG00000176160.11:ENST00000323777.8:exon1:c.C261A:p.Y87X 17q22 C3N-03666 . . . . . . . . . 5.6 . . . . D A . . . 0.150 . . . . . . . . . D D . . 5.516 34 0.996 D N 0.646 6.429 0.397 4.339 1.000 0.517 0.600 0.479 0.604 . 3.830 2.850 0.639 0.979 0.317 1.000 1.000 0.927 307 . . . ID=COSV60204808;OCCURENCE=1(liver) HSF5 589 0 723 75 0.093984962406015 TRUE TRUE ENSG00000108384.15 . BCM GRCh38.p13 chr17 58720779 58720779 + G G A Missense_Mutation SNP ENST00000337432.9 exon6 c.G871A p.D291N exonic ENSG00000108384.15 . nonsynonymous SNV ENSG00000108384.15:ENST00000337432.9:exon6:c.G871A:p.D291N 17q22 C3N-03666 . . . . . . . . . 5.20 T T B B N D M T N 0.112 T T T 0.139 0.671 0.754 0.223 T T T T D T 2.251 21.200 0.996 D D 0.084 2.824 0.238 3.377 0.400 0.732 0.744 0.710 0.728 . 5.230 5.230 3.684 0.227 -0.186 1.000 1.000 0.994 543 Rad51/DMC1/RadA;DNA_recombination_and_repair_protein_Rad51-like,_C-terminal . . . RAD51C 210 0 349 64 0.154963680387409 TRUE TRUE ENSG00000108395.14 . BCM GRCh38.p13 chr17 59012378 59012378 + C C G Missense_Mutation SNP ENST00000262294.12 exon22 c.G2645C p.G882A exonic ENSG00000108395.14 . nonsynonymous SNV ENSG00000108395.14:ENST00000262294.12:exon22:c.G2645C:p.G882A 17q22 C3N-03666 . . . . . . . . . 5.20 T D B B D D N T N 0.331 T T T 0.031 0.229 0.349 0.237 T T T T D T 2.125 20.300 0.964 D N -0.053 2.328 0.089 2.689 0.002 0.732 0.654 0.710 0.728 . 5.860 4.870 1.870 1.026 0.599 0.942 0.995 0.985 496 . . . . TRIM37 327 1 699 60 0.0790513833992095 TRUE TRUE ENSG00000141367.12 . BCM GRCh38.p13 chr17 59644438 59644438 + G G C Missense_Mutation SNP ENST00000269122.8 exon2 c.G205C p.D69H exonic ENSG00000141367.12 . nonsynonymous SNV ENSG00000141367.12:ENST00000269122.8:exon2:c.G205C:p.D69H 17q23.1 C3N-03666 . . . . . . . . . 19.20 D D D D D D H T D 0.940 D D D 0.816 0.666 0.894 2.206 D D D D D D 4.256 29.200 0.995 D D 0.796 8.693 0.760 9.034 1.000 0.707 0.725 0.725 0.714 . 4.910 4.910 9.899 1.176 0.676 1.000 0.998 0.928 808 . . . . CLTC 314 2 621 99 0.1375 TRUE TRUE ENSG00000136488.15 . BCM GRCh38.p13 chr17 63895744 63895744 + G G T Missense_Mutation SNP ENST00000316193.13 exon3 c.C278A p.T93K exonic ENSG00000136488.15 . nonsynonymous SNV ENSG00000136488.15:ENST00000316193.13:exon3:c.C278A:p.T93K 17q23.3 C3N-03666 . . . . . . . . . 13.20 D D D P N D M D D 0.283 D D D 0.417 0.612 0.590 1.748 T D T T D T 2.923 23.300 0.936 D N -0.175 1.947 -0.373 1.422 0.000 0.497 0.590 0.547 0.542 . 2.310 1.300 3.085 -0.492 -0.632 1.000 0.000 0.000 858 Somatotropin_hormone,_conserved_site . . . CSH1 22 0 24 6 0.2 NA TRUE ENSG00000196169.15 . BCM GRCh38.p13 chr17 74346496 74346496 + G G A Missense_Mutation SNP ENST00000389916.5 exon8 c.G896A p.R299H exonic ENSG00000196169.15 . nonsynonymous SNV ENSG00000196169.15:ENST00000389916.5:exon8:c.G896A:p.R299H 17q25.1 C3N-03666 0 0 0 0 0 0 0 0 rs750093476 19.19 D D D D . D H D D 0.878 D D D 0.891 . 0.963 0.782 D D D D D D 4.014 27.100 0.999 D D 0.927 11.773 0.758 8.985 1.000 0.554 0.590 0.576 0.568 . 5.800 5.800 9.670 1.164 0.662 1.000 0.586 0.875 773 Kinesin_motor_domain . . . KIF19 133 0 170 28 0.141414141414141 TRUE NA ENSG00000175322.12 . BCM GRCh38.p13 chr18 14105537 14105537 + G G T Missense_Mutation SNP ENST00000590202.3 exon3 c.C1003A p.L335I exonic ENSG00000175322.12 . nonsynonymous SNV ENSG00000175322.12:ENST00000590202.3:exon3:c.C1003A:p.L335I 18p11.21 C3N-03666 . . . . . . . . . 5.16 . D D D . N M T . 0.145 T T T 0.209 0.783 0.367 0.067 T T T T D T 1.070 12.460 0.988 N . -0.104 2.161 -0.434 1.313 0.237 0.651 0.709 0.696 0.621 . 0.646 -0.809 0.136 -0.745 -0.728 0.009 0.002 0.001 958 Zinc_finger_C2H2-type . . . ZNF519 146 0 224 22 0.0894308943089431 NA TRUE ENSG00000185361.9 . BCM GRCh38.p13 chr19 4652311 4652311 + G G A Missense_Mutation SNP ENST00000327473.9 exon2 c.G442A p.G148S exonic ENSG00000185361.9 . nonsynonymous SNV ENSG00000185361.9:ENST00000327473.9:exon2:c.G442A:p.G148S 19p13.3 C3N-03666 . . . . . . . . rs376296732 1.20 T T B B N N N T N 0.050 T T T 0.022 . 0.061 0.935 T T T T T D 1.357 14.790 0.984 N N -0.631 0.932 -0.524 1.164 0.013 0.701 0.702 0.717 0.636 . 4.440 -1.320 0.823 0.191 0.584 0.999 0.565 0.855 964 . . . ID=COSV59420535;OCCURENCE=1(pancreas) TNFAIP8L1 254 0 300 51 0.145299145299145 TRUE TRUE ENSG00000181143.15 . BCM GRCh38.p13 chr19 8914273 8914273 + G G A Missense_Mutation SNP ENST00000397910.8 exon16 c.C36913T p.R12305C exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon16:c.C36913T:p.R12305C 19p13.2 C3N-03666 3.316e-05 0 0 0 0 4.5e-05 0 6.072e-05 rs367821186 2.15 D D . . . N . T N 0.355 T T T 0.063 . 0.333 . T . T T T T 1.672 16.840 0.253 N N -0.448 1.282 -0.686 0.920 0.000 0.554 0.574 0.618 0.564 . 2.570 1.460 -0.191 0.181 -0.188 0.000 0.016 0.000 934 SEA_domain . . ID=COSV67441594;OCCURENCE=1(urinary_tract),1(skin),1(endometrium) MUC16 174 0 203 22 0.0977777777777778 TRUE TRUE ENSG00000105143.12 . BCM GRCh38.p13 chr19 14950343 14950343 + G G A Missense_Mutation SNP ENST00000221742.7 exon9 c.C1547T p.A516V exonic ENSG00000105143.12 . nonsynonymous SNV ENSG00000105143.12:ENST00000221742.7:exon9:c.C1547T:p.A516V 19p13.12 C3N-03666 0.0001 0 0 0.0007 0 9.071e-05 0.0011 0 rs146753676 16.20 D D D D D D M T D 0.822 T T D 0.597 . 0.811 2.376 T D D D D D 3.280 24.100 0.999 D D 0.677 6.814 0.578 5.956 0.970 0.615 0.574 0.616 0.564 . 5.430 4.390 9.826 1.136 0.665 1.000 0.277 0.180 976 . . . ID=COSV55669433;OCCURENCE=1(lung) SLC1A6 56 0 69 8 0.103896103896104 TRUE NA ENSG00000099331.13 . BCM GRCh38.p13 chr19 17212269 17212269 + A A G Missense_Mutation SNP ENST00000594824.5 exon40 c.A6433G p.T2145A exonic ENSG00000099331.13 . nonsynonymous SNV ENSG00000099331.13:ENST00000594824.5:exon40:c.A6433G:p.T2145A 19p13.11 C3N-03666 0.0003 0.0005 0 0 0 0.0003 0.0050 0.0002 rs751808879 2.15 . T . . N N . D . 0.120 T T D 0.109 . 0.610 . T T T T T T 0.760 9.007 0.748 N N -0.609 0.971 -0.568 1.094 0.001 0.707 0.702 0.723 0.714 . 4.830 3.730 0.489 1.202 0.686 0.000 0.659 0.152 917 . . . . MYO9B 70 0 98 16 0.140350877192982 TRUE NA ENSG00000089335.21 . BCM GRCh38.p13 chr19 34684379 34684379 + G G C Missense_Mutation SNP ENST00000505242.6 exon5 c.G342C p.K114N exonic ENSG00000089335.21 . nonsynonymous SNV ENSG00000089335.21:ENST00000505242.6:exon5:c.G342C:p.K114N 19q13.11 C3N-03666 . . . . . . . . . 0.18 T T B B . N . T N 0.121 T T T 0.016 0.303 0.072 0.057 T T T T T T 0.235 3.532 0.952 N N -1.045 0.358 -1.150 0.327 0.983 0.732 0.744 0.651 0.728 . 0.967 -0.248 -0.570 -0.957 -0.490 0.002 0.001 0.044 484 . . . . ZNF302 68 0 131 15 0.102739726027397 TRUE TRUE ENSG00000197497.11 . BCM GRCh38.p13 chr19 53164682 53164682 + C C T Missense_Mutation SNP ENST00000396424.5 exon4 c.G1808A p.C603Y exonic ENSG00000197497.11 . nonsynonymous SNV ENSG00000197497.11:ENST00000396424.5:exon4:c.G1808A:p.C603Y 19q13.42 C3N-03666 1.649e-05 0 0 0.0002 0 0 0 0 rs781368210 12.19 D D D D . N H D D 0.393 D D T 0.229 0.740 0.840 0.274 T T T T D T 2.679 22.800 0.957 D D 0.264 3.599 -0.034 2.246 0.003 0.615 0.588 0.659 0.605 . 2.300 1.220 4.064 0.748 0.490 0.986 0.002 0.006 994 Zinc_finger_C2H2-type . . . ZNF665 133 0 184 28 0.132075471698113 TRUE NA ENSG00000167614.14 . BCM GRCh38.p13 chr19 54419227 54419227 + G G A Missense_Mutation SNP ENST00000376530.8 exon2 c.G226A p.E76K exonic ENSG00000167614.14 . nonsynonymous SNV ENSG00000167614.14:ENST00000376530.8:exon2:c.G226A:p.E76K 19q13.42 C3N-03666 1.69e-05 0 0 0 0 3.096e-05 0 0 rs752243868 5.20 T D D D N N L T N 0.488 T T T 0.116 0.589 0.068 0.407 T T T T D T 2.315 21.700 0.999 D N -0.051 2.335 -0.033 2.250 1.000 0.598 0.578 0.269 0.639 . 3.510 3.510 3.773 1.176 0.676 0.999 0.402 0.576 988 . . . . TTYH1 141 0 249 21 0.0777777777777778 TRUE NA ENSG00000242019.1 . BCM GRCh38.p13 chr19 54729774 54729774 + G G A Missense_Mutation SNP ENST00000291860.1 exon5 c.G937A p.V313I exonic ENSG00000242019.1 . nonsynonymous SNV ENSG00000242019.1:ENST00000291860.1:exon5:c.G937A:p.V313I 19q13.42 C3N-03666 . . . . . . . . rs111516669 0.14 T T . . . N . T N 0.025 T T T 0.008 0.427 0.043 1.508 T . T T T . -1.459 0.001 0.793 N N -1.796 0.024 -1.887 0.023 0.000 0.487 0.563 0.574 0.564 . 1.370 -2.730 -1.590 -4.799 -4.978 0.000 0.000 0.000 952 Immunoglobulin_subtype . . . KIR3DL3 128 0 208 17 0.0755555555555556 TRUE NA ENSG00000185982.7 . BCM GRCh38.p13 chr20 188045 188045 + T T A Missense_Mutation SNP ENST00000334391.5 exon2 c.A123T p.R41S exonic ENSG00000185982.7 . nonsynonymous SNV ENSG00000185982.7:ENST00000334391.5:exon2:c.A123T:p.R41S 20p13 C3N-03666 . . . . . . . . . 2.19 D T B B N N . T N 0.165 T T T 0.037 0.237 0.043 0.008 T T T T D T 1.104 12.810 0.867 N N -0.997 0.407 -1.051 0.429 0.000 0.487 0.574 0.574 0.530 . 4.410 -0.957 -0.046 -0.168 -0.995 0.527 0.122 0.027 952 . . . . DEFB128 364 0 675 70 0.0939597315436242 TRUE TRUE ENSG00000154654.15 . BCM GRCh38.p13 chr21 21477338 21477338 + A A T Missense_Mutation SNP ENST00000400546.6 exon15 c.A1944T p.K648N exonic ENSG00000154654.15 . nonsynonymous SNV ENSG00000154654.15:ENST00000400546.6:exon15:c.A1944T:p.K648N 21q21.1 C3N-03666 . . . . . . . . . 3.20 T T B B D D L T N 0.144 T T T 0.049 0.428 0.386 0.668 T T T T T T 1.910 18.560 0.994 D N -0.520 1.138 -0.306 1.551 0.012 0.554 0.574 0.618 0.621 . 5.800 3.480 1.474 0.292 -0.070 1.000 1.000 0.988 984 Fibronectin_type_III . . . NCAM2 65 0 95 9 0.0865384615384615 TRUE TRUE ENSG00000181544.15 . BCM GRCh38.p13 chrX 14844654 14844654 + T T G Missense_Mutation SNP ENST00000650831.1 exon9 c.A2014C p.M672L exonic ENSG00000181544.15 . nonsynonymous SNV ENSG00000181544.15:ENST00000650831.1:exon9:c.A2014C:p.M672L Xp22.2 C3N-03666 . . . . . . . . . 1.18 T T B B N N M . N 0.255 T T T 0.083 0.305 0.231 0.096 T T T T T T -0.509 0.114 0.395 N . . . . . 0.999 . . . . . 5.500 -6.540 -0.313 -2.301 -0.718 0.049 0.001 0.088 98 . . . . FANCB 103 0 176 31 0.14975845410628 TRUE TRUE ENSG00000184735.7 . BCM GRCh38.p13 chrX 23001382 23001382 + A A C Missense_Mutation SNP ENST00000327968.7 exon1 c.A1325C p.K442T exonic ENSG00000184735.7 . nonsynonymous SNV ENSG00000184735.7:ENST00000327968.7:exon1:c.A1325C:p.K442T Xp22.11 C3N-03666 . . . . . . . . . 1.19 T T B B U N N T N 0.117 T T T 0.067 0.486 0.068 0.114 T T T T T T 0.216 3.306 0.523 D . . . . . 0.000 . . . . . 4.190 1.600 1.532 -0.230 -0.116 0.674 0.647 0.003 974 Helicase_superfamily_1/2,_ATP-binding_domain;Helicase,_C-terminal . . . DDX53 52 0 52 6 0.103448275862069 TRUE TRUE ENSG00000123131.13 . BCM GRCh38.p13 chrX 23671607 23671607 + G G A Missense_Mutation SNP ENST00000379341.9 exon2 c.G320A p.R107H exonic ENSG00000123131.13 . nonsynonymous SNV ENSG00000123131.13:ENST00000379341.9:exon2:c.G320A:p.R107H Xp22.11 C3N-03666 2.365e-05 0 0.0002 0 0 0 0 0 rs775157258 8.19 D D B B N N M T D 0.115 T T D 0.173 0.657 0.718 0.917 T T T T D D 2.686 22.800 0.999 D . . . . . 1.000 . . . . . 5.340 3.310 2.291 1.176 0.674 1.000 1.000 1.000 748 Alkyl_hydroperoxide_reductase_subunit_C/_Thiol_specific_antioxidant;Thioredoxin_domain . . . PRDX4 66 0 95 14 0.128440366972477 TRUE NA ENSG00000198934.5 . BCM GRCh38.p13 chrX 76428400 76428400 + C C A Missense_Mutation SNP ENST00000361470.4 exon1 c.C470A p.S157Y exonic ENSG00000198934.5 . nonsynonymous SNV ENSG00000198934.5:ENST00000361470.4:exon1:c.C470A:p.S157Y Xq13.3 C3N-03666 . . . . . . . . . 3.18 D D P B . N L T N 0.113 T T D 0.070 0.198 0.043 0.807 T T T T T T 1.334 14.630 0.775 N . . . . . 1.000 . . . . . 1.960 -0.100 -0.161 -1.752 -1.063 0.002 0.000 0.000 203 . . . . MAGEE1 184 2 244 14 0.0542635658914729 NA TRUE ENSG00000174740.8 . BCM GRCh38.p13 chrX 91436184 91436184 + G G A Missense_Mutation SNP ENST00000312600.4 exon2 c.G607A p.V203I exonic ENSG00000174740.8 . nonsynonymous SNV ENSG00000174740.8:ENST00000312600.4:exon2:c.G607A:p.V203I Xq21.31 C3N-03666 . . . . . . . . . 6.19 T T B B D D N T N 0.129 T T D 0.097 0.574 0.569 0.581 T T T T D D 1.682 16.910 0.886 D . . . . . 0.997 . . . . . 4.530 2.770 7.427 1.062 0.676 1.000 0.998 0.998 949 RNA_recognition_motif_domain;RNA_recognition_motif_domain,_eukaryote . . ID=COSV57040474;OCCURENCE=1(large_intestine),2(central_nervous_system),1(endometrium) PABPC5 161 0 207 39 0.158536585365854 TRUE TRUE ENSG00000133138.20 . BCM GRCh38.p13 chrX 106873822 106873824 + CAG CAG - In_Frame_Del DEL ENST00000357242.10 exon21 c.3220_3222del p.Q1074del exonic ENSG00000133138.20 . nonframeshift deletion ENSG00000133138.20:ENST00000357242.10:exon21:c.3220_3222del:p.Q1074del Xq22.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D8B 82 0 90 27 0.230769230769231 TRUE TRUE ENSG00000133138.20 . BCM GRCh38.p13 chrX 106873827 106873830 + GTCA GTCA - Frame_Shift_Del DEL ENST00000357242.10 exon21 c.3225_3228del p.W1075Cfs*12 exonic ENSG00000133138.20 . frameshift deletion ENSG00000133138.20:ENST00000357242.10:exon21:c.3225_3228del:p.W1075Cfs*12 Xq22.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D8B 83 0 98 25 0.203252032520325 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178732065 178732065 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000155657.27 ENST00000591111.5:exon55:c.15952+1G>T . . 2q31.2 C3N-03666 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.719 34 0.992 D . 1.247 28.955 1.122 29.816 1.000 0.054 0.063 0.060 0.057 0.991 6.170 6.170 7.568 1.026 0.599 1.000 0.979 0.964 341 . . . . TTN 33 0 41 4 0.0888888888888889 TRUE TRUE ENSG00000009724.17 . BCM GRCh38.p13 chr1 11046966 11046966 + G G A Silent SNP ENST00000400897.8 exon2 c.C159T p.P53P exonic ENSG00000009724.17 . synonymous SNV ENSG00000009724.17:ENST00000400897.8:exon2:c.C159T:p.P53P 1p36.22 C3N-03666 0.0002 0 0 0 0 0.0005 0 0 rs376802078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MASP2 346 0 377 43 0.102380952380952 TRUE NA ENSG00000142794.18 . BCM GRCh38.p13 chr1 21483212 21483212 + G G A Silent SNP ENST00000318249.9 exon15 c.G1728A p.S576S exonic ENSG00000142794.18 . synonymous SNV ENSG00000142794.18:ENST00000318249.9:exon15:c.G1728A:p.S576S 1p36.12 C3N-03666 8.454e-06 0 0 0 0 0 0 6.119e-05 rs775331586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59058154;OCCURENCE=1(liver),1(large_intestine) NBPF3 124 0 162 22 0.119565217391304 NA TRUE ENSG00000116783.15 . BCM GRCh38.p13 chr1 74353982 74353982 + T T C Silent SNP ENST00000326637.8 exon11 c.T1030C p.L344L exonic ENSG00000116783.15;ENSG00000259030.7 . synonymous SNV ENSG00000116783.15:ENST00000326637.8:exon11:c.T1030C:p.L344L,ENSG00000259030.7:ENST00000557284.6:exon13:c.T1372C:p.L458L 1p31.1 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNNI3K 91 0 135 22 0.140127388535032 TRUE TRUE ENSG00000132718.9 . BCM GRCh38.p13 chr1 155880595 155880595 + G G A Silent SNP ENST00000368324.5 exon3 c.G957A p.P319P exonic ENSG00000132718.9 . synonymous SNV ENSG00000132718.9:ENST00000368324.5:exon3:c.G957A:p.P319P 1q22 C3N-03666 3.295e-05 0 0 0.0002 0 2.997e-05 0 0 rs370047410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYT11 158 0 231 81 0.259615384615385 TRUE NA ENSG00000143337.18 . BCM GRCh38.p13 chr1 179914032 179914032 + G G A Silent SNP ENST00000606911.6 exon9 c.G942A p.Q314Q exonic ENSG00000143337.18 . synonymous SNV ENSG00000143337.18:ENST00000606911.6:exon9:c.G942A:p.Q314Q 1q25.2 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOR1AIP1 148 0 321 19 0.0558823529411765 TRUE NA ENSG00000197721.17 . BCM GRCh38.p13 chr1 207697606 207697606 + C C T Silent SNP ENST00000508064.7 exon6 c.C966T p.Y322Y exonic ENSG00000197721.17 . synonymous SNV ENSG00000197721.17:ENST00000508064.7:exon6:c.C966T:p.Y322Y 1q32.2 C3N-03666 0.0098 0.0006 0.0327 0.0478 0.0183 0.0033 0.0134 0.0022 rs151335737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54329371;OCCURENCE=1(lung) CR1L 402 0 802 51 0.05978898007034 NA TRUE ENSG00000135951.16 . BCM GRCh38.p13 chr2 99081283 99081283 + A A T Silent SNP ENST00000393483.8 exon11 c.T726A p.I242I exonic ENSG00000135951.16 . synonymous SNV ENSG00000135951.16:ENST00000393483.8:exon11:c.T726A:p.I242I 2q11.2 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSGA10 71 0 76 15 0.164835164835165 TRUE TRUE ENSG00000169760.17 . BCM GRCh38.p13 chr3 174279090 174279090 + T T C Silent SNP ENST00000457714.5 exon6 c.T1089C p.D363D exonic ENSG00000169760.17 . synonymous SNV ENSG00000169760.17:ENST00000457714.5:exon6:c.T1089C:p.D363D 3q26.31 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLGN1 102 0 155 76 0.329004329004329 TRUE TRUE ENSG00000151726.14 . BCM GRCh38.p13 chr4 184763176 184763176 + G G A Silent SNP ENST00000515030.5 exon16 c.C1512T p.G504G exonic ENSG00000151726.14 . synonymous SNV ENSG00000151726.14:ENST00000515030.5:exon16:c.C1512T:p.G504G 4q35.1 C3N-03666 0.0001 0 0 0 0.0002 0.0002 0 0 rs370223408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55668052;OCCURENCE=1(cervix) ACSL1 238 0 349 25 0.0668449197860963 TRUE NA ENSG00000078295.17 . BCM GRCh38.p13 chr5 7816961 7816961 + C C T Silent SNP ENST00000338316.9 exon23 c.C2979T p.N993N exonic ENSG00000078295.17 . synonymous SNV ENSG00000078295.17:ENST00000338316.9:exon23:c.C2979T:p.N993N 5p15.31 C3N-03666 . . . . . . . . rs958554402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100601497;OCCURENCE=1(stomach) ADCY2 182 0 236 58 0.197278911564626 TRUE NA ENSG00000040731.10 . BCM GRCh38.p13 chr5 24537567 24537567 + G G T Silent SNP ENST00000264463.8 exon3 c.C339A p.A113A exonic ENSG00000040731.10 . synonymous SNV ENSG00000040731.10:ENST00000264463.8:exon3:c.C339A:p.A113A 5p14.2 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100053091;OCCURENCE=1(lung) CDH10 280 0 423 44 0.0942184154175589 TRUE TRUE ENSG00000124818.15 . BCM GRCh38.p13 chr6 47795443 47795443 + G G A Silent SNP ENST00000371211.6 exon4 c.G636A p.T212T exonic ENSG00000124818.15 . synonymous SNV ENSG00000124818.15:ENST00000371211.6:exon4:c.G636A:p.T212T 6p12.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99790030;OCCURENCE=1(central_nervous_system) OPN5 289 0 427 37 0.0797413793103448 TRUE TRUE ENSG00000135317.13 . BCM GRCh38.p13 chr6 85547335 85547335 + A A T Silent SNP ENST00000314673.8 exon11 c.T975A p.P325P exonic ENSG00000135317.13 . synonymous SNV ENSG00000135317.13:ENST00000314673.8:exon11:c.T975A:p.P325P 6q14.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX14 153 0 285 31 0.0981012658227848 TRUE TRUE ENSG00000164880.16 . BCM GRCh38.p13 chr7 1484117 1484117 + C C A Silent SNP ENST00000404767.8 exon25 c.G3315T p.S1105S exonic ENSG00000164880.16 . synonymous SNV ENSG00000164880.16:ENST00000404767.8:exon25:c.G3315T:p.S1105S 7p22.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INTS1 137 0 211 45 0.17578125 TRUE TRUE ENSG00000183117.19 . BCM GRCh38.p13 chr8 2942513 2942513 + A A G Silent SNP ENST00000635120.2 exon69 c.T10494C p.A3498A exonic ENSG00000183117.19 . synonymous SNV ENSG00000183117.19:ENST00000635120.2:exon69:c.T10494C:p.A3498A 8p23.2 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSMD1 116 0 207 28 0.119148936170213 TRUE TRUE ENSG00000147416.11 . BCM GRCh38.p13 chr8 20214901 20214901 + C C T Silent SNP ENST00000276390.7 exon10 c.C1011T p.R337R exonic ENSG00000147416.11 . synonymous SNV ENSG00000147416.11:ENST00000276390.7:exon10:c.C1011T:p.R337R 8p21.3 C3N-03666 8.246e-06 0 0 0 0 1.499e-05 0 0 rs550598553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP6V1B2 139 0 316 28 0.0813953488372093 TRUE NA ENSG00000197140.15 . BCM GRCh38.p13 chr8 39254446 39254446 + G G A Silent SNP ENST00000379907.9 exon18 c.G1935A p.S645S exonic ENSG00000197140.15 . synonymous SNV ENSG00000197140.15:ENST00000379907.9:exon18:c.G1935A:p.S645S 8p11.22 C3N-03666 0.0008 0.0030 0.0042 0 0 0.0002 0.0020 0.0007 rs113063036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAM32 197 0 386 36 0.0853080568720379 TRUE NA ENSG00000204291.11 . BCM GRCh38.p13 chr9 99056338 99056338 + A A C Silent SNP ENST00000375001.8 exon35 c.A3271C p.R1091R exonic ENSG00000204291.11 . synonymous SNV ENSG00000204291.11:ENST00000375001.8:exon35:c.A3271C:p.R1091R 9q22.33 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL15A1 268 0 345 28 0.0750670241286863 TRUE TRUE ENSG00000060237.17 . BCM GRCh38.p13 chr12 885103 885103 + C C T Silent SNP ENST00000315939.11 exon19 c.C4299T p.V1433V exonic ENSG00000060237.17 . synonymous SNV ENSG00000060237.17:ENST00000315939.11:exon19:c.C4299T:p.V1433V 12p13.33 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WNK1 272 0 379 43 0.101895734597156 TRUE TRUE ENSG00000130037.5 . BCM GRCh38.p13 chr12 5045158 5045158 + C C T Silent SNP ENST00000252321.5 exon1 c.C1011T p.F337F exonic ENSG00000130037.5 . synonymous SNV ENSG00000130037.5:ENST00000252321.5:exon1:c.C1011T:p.F337F 12p13.32 C3N-03666 . . . . . . . . rs977096843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52904223;OCCURENCE=2(large_intestine) KCNA5 269 0 378 36 0.0869565217391304 TRUE TRUE ENSG00000136160.17 . BCM GRCh38.p13 chr13 77918544 77918544 + G G A Silent SNP ENST00000646607.2 exon1 c.C30T p.R10R exonic ENSG00000136160.17 . synonymous SNV ENSG00000136160.17:ENST00000646607.2:exon1:c.C30T:p.R10R 13q22.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV104636194;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) EDNRB 62 0 115 15 0.115384615384615 TRUE NA ENSG00000152749.8 . BCM GRCh38.p13 chr13 94623285 94623285 + C C T Silent SNP ENST00000376958.5 exon7 c.C1071T p.Y357Y exonic ENSG00000152749.8 . synonymous SNV ENSG00000152749.8:ENST00000376958.5:exon7:c.C1071T:p.Y357Y 13q32.1 C3N-03666 8.251e-06 0 8.639e-05 0 0 0 0 0 rs565290535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR180 54 0 115 9 0.0725806451612903 TRUE NA ENSG00000059145.19 . BCM GRCh38.p13 chr16 1399436 1399436 + A A G Silent SNP ENST00000389221.9 exon5 c.T672C p.Y224Y exonic ENSG00000059145.19 . synonymous SNV ENSG00000059145.19:ENST00000389221.9:exon5:c.T672C:p.Y224Y 16p13.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNKL 224 0 300 59 0.164345403899721 TRUE TRUE ENSG00000237515.9 . BCM GRCh38.p13 chr16 12902562 12902562 + C C T Silent SNP ENST00000558583.3 exon1 c.C498T p.L166L exonic ENSG00000237515.9 . synonymous SNV ENSG00000237515.9:ENST00000558583.3:exon1:c.C498T:p.L166L 16p13.12 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHISA9 151 0 239 25 0.0946969696969697 TRUE TRUE ENSG00000179776.19 . BCM GRCh38.p13 chr16 66390422 66390422 + G G A Silent SNP ENST00000341529.8 exon6 c.G801A p.V267V exonic ENSG00000179776.19 . synonymous SNV ENSG00000179776.19:ENST00000341529.8:exon6:c.G801A:p.V267V 16q21 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH5 77 0 117 36 0.235294117647059 TRUE TRUE ENSG00000197879.17 . BCM GRCh38.p13 chr17 1470205 1470205 + C C T Silent SNP ENST00000648651.1 exon24 c.G2496A p.S832S exonic ENSG00000197879.17 . synonymous SNV ENSG00000197879.17:ENST00000648651.1:exon24:c.G2496A:p.S832S 17p13.3 C3N-03666 1.879e-05 0 9.334e-05 0 0 1.694e-05 0 0 rs778562822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO1C 69 0 82 13 0.136842105263158 TRUE NA ENSG00000262664.3 . BCM GRCh38.p13 chr17 2042161 2042161 + G G A Silent SNP ENST00000572195.3 exon1 c.G114A p.E38E exonic ENSG00000262664.3 . synonymous SNV ENSG00000262664.3:ENST00000572195.3:exon1:c.G114A:p.E38E 17p13.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OVCA2 102 0 142 15 0.0955414012738854 TRUE TRUE ENSG00000214978.7 . BCM GRCh38.p13 chr17 9802503 9802503 + G G A Silent SNP ENST00000399363.4 exon5 c.C765T p.P255P exonic ENSG00000214978.7 . synonymous SNV ENSG00000214978.7:ENST00000399363.4:exon5:c.C765T:p.P255P 17p13.1 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GSG1L2 183 0 264 33 0.111111111111111 TRUE NA ENSG00000105556.11 . BCM GRCh38.p13 chr19 307250 307250 + C C T Silent SNP ENST00000264819.6 exon13 c.G1485A p.E495E exonic ENSG00000105556.11 . synonymous SNV ENSG00000105556.11:ENST00000264819.6:exon13:c.G1485A:p.E495E 19p13.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIER2 433 0 510 67 0.116117850953206 TRUE TRUE ENSG00000012124.17 . BCM GRCh38.p13 chr19 35341407 35341407 + G G A Silent SNP ENST00000085219.10 exon8 c.G1572A p.S524S exonic ENSG00000012124.17 . synonymous SNV ENSG00000012124.17:ENST00000085219.10:exon8:c.G1572A:p.S524S 19q13.12 C3N-03666 8.313e-06 0 0 0 0 0 0 6.067e-05 rs759785914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50070972;OCCURENCE=1(skin) CD22 220 0 377 30 0.0737100737100737 TRUE TRUE ENSG00000105467.9 . BCM GRCh38.p13 chr19 48375650 48375650 + C C T Silent SNP ENST00000344846.7 exon4 c.C369T p.F123F exonic ENSG00000105467.9 . synonymous SNV ENSG00000105467.9:ENST00000344846.7:exon4:c.C369T:p.F123F 19q13.33 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61225315;OCCURENCE=2(skin) SYNGR4 99 0 176 19 0.0974358974358974 TRUE TRUE ENSG00000153779.11 . BCM GRCh38.p13 chrX 89922652 89922652 + G G A Silent SNP ENST00000283891.6 exon2 c.G567A p.P189P exonic ENSG00000153779.11 . synonymous SNV ENSG00000153779.11:ENST00000283891.6:exon2:c.G567A:p.P189P Xq21.31 C3N-03666 . . . . . . . . rs34232559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99383208;OCCURENCE=1(skin),2(endometrium) TGIF2LX 385 0 403 103 0.203557312252964 NA TRUE ENSG00000228400.2 . BCM GRCh38.p13 chr2 124014096 124014096 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000228400.2 . . . 2q14.3 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC079154.1 152 0 221 21 0.0867768595041322 TRUE NA ENSG00000158428.4 . BCM GRCh38.p13 chr2 218367965 218367965 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000158428.4 ENST00000289388.4:c.*1G>A . . 2q35 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CATIP 193 0 260 29 0.100346020761246 TRUE NA ENSG00000154175.17 . BCM GRCh38.p13 chr3 100816745 100816745 + G G A Intron SNP NA NA NA NA intronic ENSG00000154175.17 . . . 3q12.2 C3N-03666 . . . . . . . . . 3.17 D T B B . D . T N 0.162 T T T 0.017 . 0.268 . . T T T T D 1.801 17.740 0.999 N N -0.352 1.491 -0.275 1.617 0.701 0.693 0.574 0.574 0.564 . 4.960 4.090 1.566 1.176 0.676 0.016 0.987 0.985 688 . . . . ABI3BP 276 1 589 31 0.05 TRUE NA ENSG00000198788.8 . BCM GRCh38.p13 chr11 1103916 1103916 + C C G 3'Flank SNP NA NA NA NA downstream ENSG00000198788.8 dist=460 . . 11p15.5 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC2 261 0 352 27 0.0712401055408971 TRUE NA ENSG00000149499.11 . BCM GRCh38.p13 chr11 62602448 62602448 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000149499.11 ENST00000394773.6:c.*27C>T . . 11q12.3 C3N-03666 . . . . . . . . rs1047866726 2.17 D D B B . N . T N 0.116 T T T 0.025 0.396 0.088 . . T T T T T 1.541 16.000 0.861 N N -1.279 0.177 -1.355 0.176 1.000 0.628 0.672 0.504 0.373 . 3.400 -1.950 -0.105 -1.339 -1.766 0.001 0.000 0.000 177 . . . . EML3 130 0 156 14 0.0823529411764706 TRUE NA ENSG00000229807.12 . BCM GRCh38.p13 chrX 73845776 73845776 + - NA G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229807.12 . . . Xq13.2 C3N-03666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIST NA NA NA NA NA NA NA ENSG00000134744.14 . BCM GRCh38.p13 chr1 52461542 52461542 + C C T Missense_Mutation SNP ENST00000371544.7 exon18 c.G3202A p.E1068K exonic ENSG00000134744.14 . nonsynonymous SNV ENSG00000134744.14:ENST00000371544.7:exon18:c.G3202A:p.E1068K 1p32.3 C3N-04126 . . . . . . . . . 16.20 D D D D D D H T D 0.687 T T D 0.552 0.378 0.832 2.647 D T D D D D 4.009 27.000 0.999 D D 0.963 12.783 0.918 14.560 1.000 0.732 0.744 0.710 0.728 . 5.810 5.810 7.542 1.026 0.599 1.000 0.998 0.996 314 . . . . TUT4 219 0 213 19 0.0818965517241379 TRUE TRUE ENSG00000162627.17 . BCM GRCh38.p13 chr1 98698754 98698754 + C C T Missense_Mutation SNP ENST00000306121.8 exon6 c.C887T p.S296L exonic ENSG00000162627.17 . nonsynonymous SNV ENSG00000162627.17:ENST00000306121.8:exon6:c.C887T:p.S296L 1p21.3 C3N-04126 . . . . . . . . . 11.19 D D D P D D . T D 0.671 T T D 0.132 0.397 0.771 0.283 T T T T D D 3.939 26.600 0.998 D D 0.603 5.958 0.608 6.324 1.000 0.707 0.588 0.659 0.714 . 5.280 5.280 4.422 1.026 0.599 1.000 0.995 0.966 911 Phox_homologous_domain . . . SNX7 300 0 280 50 0.151515151515152 NA TRUE ENSG00000143612.20 . BCM GRCh38.p13 chr1 154219861 154219861 + A A G Missense_Mutation SNP ENST00000368521.9 exon2 c.T143C p.V48A exonic ENSG00000143612.20 . nonsynonymous SNV ENSG00000143612.20:ENST00000368521.9:exon2:c.T143C:p.V48A 1q21.3 C3N-04126 . . . . . . . . . 5.18 T T B B D D L . N 0.379 T T T 0.125 0.721 0.327 0.429 . T T T D T 2.956 23.300 0.995 D D 0.102 2.894 0.308 3.764 1.000 0.543 0.522 0.686 0.562 . 6.170 6.170 5.849 1.312 0.756 1.000 1.000 1.000 73 . . . . C1orf43 262 0 255 29 0.102112676056338 TRUE TRUE ENSG00000143801.17 . BCM GRCh38.p13 chr1 226895529 226895529 + C C G Missense_Mutation SNP ENST00000366783.8 exon13 c.C1297G p.L433V exonic ENSG00000143801.17 . nonsynonymous SNV ENSG00000143801.17:ENST00000366783.8:exon13:c.C1297G:p.L433V 1q42.13 C3N-04126 . . . . . . . . . 13.20 T T P B D D L D N 0.475 D D D 0.644 0.762 0.960 0.419 T D D D D D 1.905 18.530 0.996 D D -0.007 2.488 0.127 2.846 0.930 0.732 0.709 0.744 0.636 . 5.970 5.060 2.582 -0.328 0.537 1.000 0.911 0.935 790 . . . . PSEN2 399 0 436 68 0.134920634920635 TRUE TRUE ENSG00000071575.11 . BCM GRCh38.p13 chr2 12740346 12740346 + G G T Missense_Mutation SNP ENST00000155926.8 exon3 c.G584T p.S195I exonic ENSG00000071575.11 . nonsynonymous SNV ENSG00000071575.11:ENST00000155926.8:exon3:c.G584T:p.S195I 2p24.3 C3N-04126 . . . . . . . . . 12.20 D D P P D D L T D 0.847 T T D 0.595 0.660 0.595 1.882 T T D D D D 4.128 28.000 0.997 D D 0.724 7.463 0.772 9.354 1.000 0.707 0.546 0.702 0.714 . 5.930 5.930 8.010 1.176 0.676 1.000 0.999 0.998 961 Protein_kinase_domain . . . TRIB2 234 0 220 14 0.0598290598290598 TRUE TRUE ENSG00000168542.16 . BCM GRCh38.p13 chr2 188999570 188999570 + G G A Missense_Mutation SNP ENST00000304636.9 exon31 c.G2222A p.G741D exonic ENSG00000168542.16 . nonsynonymous SNV ENSG00000168542.16:ENST00000304636.9:exon31:c.G2222A:p.G741D 2q32.2 C3N-04126 8.333e-06 9.99e-05 0 0 0 0 0 0 rs553203474 20.20 D D D D D D H D D 0.991 D D D 0.999 0.987 0.992 0.817 D D D D D D 4.249 29.100 0.996 D D 1.087 16.964 0.990 18.258 1.000 0.554 0.574 0.618 0.621 . 5.350 5.350 9.953 1.176 0.676 1.000 0.994 0.946 839 . . . . COL3A1 499 0 491 64 0.115315315315315 TRUE NA ENSG00000144452.15 . BCM GRCh38.p13 chr2 214975957 214975957 + A A G Missense_Mutation SNP ENST00000272895.12 exon34 c.T5209C p.F1737L exonic ENSG00000144452.15 . nonsynonymous SNV ENSG00000144452.15:ENST00000272895.12:exon34:c.T5209C:p.F1737L 2q35 C3N-04126 . . . . . . . . . 13.20 T T D P D D M D N 0.510 D D D 0.714 0.473 0.877 0.748 T T D D D T 3.940 26.600 0.977 D D 0.348 4.035 0.449 4.724 0.783 0.638 0.670 0.574 0.564 . 5.870 5.870 5.077 1.312 0.756 1.000 1.000 0.993 877 . . . . ABCA12 320 0 305 66 0.177897574123989 TRUE TRUE ENSG00000163501.7 . BCM GRCh38.p13 chr2 219055397 219055397 + G G A Missense_Mutation SNP ENST00000295731.7 exon3 c.C1046T p.A349V exonic ENSG00000163501.7 . nonsynonymous SNV ENSG00000163501.7:ENST00000295731.7:exon3:c.C1046T:p.A349V 2q35 C3N-04126 2.541e-05 0.0001 0 0 0 3.106e-05 0 0 rs777059543 19.20 D D D D D D M D D 0.953 D D D 0.955 0.864 0.970 0.792 T D D D D D 3.723 25.500 0.999 D D 0.934 11.956 0.847 11.660 1.000 0.549 0.590 0.590 0.542 . 5.160 5.160 9.907 1.176 0.676 1.000 0.458 0.246 516 Hint_domain_C-terminal;Hedgehog_protein,_Hint_domain . . ID=COSV104603443;OCCURENCE=1(central_nervous_system) IHH 227 0 227 34 0.130268199233716 TRUE NA ENSG00000163516.14 . BCM GRCh38.p13 chr2 219232592 219232592 + G G A Missense_Mutation SNP ENST00000323348.10 exon5 c.G467A p.R156Q exonic ENSG00000163516.14 . nonsynonymous SNV ENSG00000163516.14:ENST00000323348.10:exon5:c.G467A:p.R156Q 2q35 C3N-04126 3.313e-05 0.0001 0 0 0 2.998e-05 0 6.057e-05 rs373389031 0.20 T T B B N N L T N 0.108 T T T 0.028 . 0.278 0.128 T T T T T T 0.357 4.942 0.598 N N -1.674 0.041 -1.702 0.051 1.000 0.719 0.725 0.725 0.734 . 5.530 -2.870 0.399 -0.565 -0.802 0.000 0.000 0.000 550 . . . . ANKZF1 386 0 431 53 0.109504132231405 TRUE NA ENSG00000174738.13 . BCM GRCh38.p13 chr3 23977267 23977267 + G G A Missense_Mutation SNP ENST00000312521.9 exon8 c.G1588A p.E530K exonic ENSG00000174738.13 . nonsynonymous SNV ENSG00000174738.13:ENST00000312521.9:exon8:c.G1588A:p.E530K 3p24.2 C3N-04126 . . . . . . . . . 16.16 D D . . D D . D D 0.665 D D D 0.827 0.679 0.801 0.838 D . D D D D 4.294 29.500 0.999 D D 0.985 13.467 0.957 16.403 1.000 0.732 0.634 0.725 0.728 . 5.920 5.920 9.968 1.176 0.676 1.000 0.998 0.942 527 Nuclear_hormone_receptor,_ligand-binding_domain . . . NR1D2 97 0 107 20 0.15748031496063 TRUE TRUE ENSG00000114480.13 . BCM GRCh38.p13 chr3 81536991 81536991 + G G A Missense_Mutation SNP ENST00000429644.7 exon13 c.C1723T p.L575F exonic ENSG00000114480.13 . nonsynonymous SNV ENSG00000114480.13:ENST00000429644.7:exon13:c.C1723T:p.L575F 3p12.2 C3N-04126 . . . . . . . . . 16.20 D D D D D D H T D 0.827 T T D 0.619 0.763 0.661 0.246 T D D D D D 4.156 28.200 0.999 D D 1.134 19.125 1.024 20.401 1.000 0.706 0.710 0.653 0.634 . 5.300 5.300 9.516 1.176 0.676 1.000 0.999 0.990 651 . . . . GBE1 240 0 222 55 0.1985559566787 TRUE TRUE ENSG00000070476.15 . BCM GRCh38.p13 chr3 126439640 126439640 + C C T Missense_Mutation SNP ENST00000389709.8 exon9 c.G2482A p.V828I exonic ENSG00000070476.15 . nonsynonymous SNV ENSG00000070476.15:ENST00000389709.8:exon9:c.G2482A:p.V828I 3q21.3 C3N-04126 . . . . . . . . rs1027630984 0.20 T T B B N N N T N 0.137 T T T 0.044 . 0.122 0.080 T T T T T T 1.153 13.250 0.902 N N -0.880 0.545 -0.754 0.823 1.000 0.706 0.577 0.710 0.636 . 4.370 1.600 1.221 0.070 -0.266 0.991 0.977 0.773 854 . . . . ZXDC 475 1 562 105 0.157421289355322 TRUE NA ENSG00000178950.17 . BCM GRCh38.p13 chr4 932060 932060 + C C A Missense_Mutation SNP ENST00000314167.9 exon1 c.G128T p.R43L exonic ENSG00000178950.17 . nonsynonymous SNV ENSG00000178950.17:ENST00000314167.9:exon1:c.G128T:p.R43L 4p16.3 C3N-04126 . . . . . . . . . 12.20 D D P P D D N D D 0.504 T T D 0.453 0.573 0.713 2.676 D T T T D D 4.187 28.500 0.995 D D 0.096 2.871 0.143 2.917 1.000 0.733 0.522 0.601 0.373 . 4.650 2.570 2.342 1.010 0.580 1.000 1.000 0.989 789 Protein_kinase_domain . . . GAK 654 1 689 124 0.152521525215252 TRUE TRUE ENSG00000137449.16 . BCM GRCh38.p13 chr4 15003131 15003131 + C C G Missense_Mutation SNP ENST00000538197.6 exon1 c.C458G p.S153C exonic ENSG00000137449.16 . nonsynonymous SNV ENSG00000137449.16:ENST00000538197.6:exon1:c.C458G:p.S153C 4p15.32 C3N-04126 . . . . . . . . . 2.14 D T . . . N . T N 0.377 T T D 0.046 0.169 0.171 0.309 T . T T T . 2.449 22.300 0.947 N N -0.218 1.826 -0.203 1.779 1.000 0.623 0.166 0.378 0.250 . 2.860 2.860 0.696 0.016 0.429 0.025 0.997 0.997 592 . . . . CPEB2 86 0 127 14 0.099290780141844 TRUE TRUE ENSG00000150471.16 . BCM GRCh38.p13 chr4 61979758 61979758 + C C T Nonsense_Mutation SNP ENST00000506720.5 exon16 c.C3001T p.R1001X exonic ENSG00000150471.16 . stopgain ENSG00000150471.16:ENST00000506720.5:exon16:c.C3001T:p.R1001X 4q13.1 C3N-04126 . . . . . . . . . 6.7 . . . . D A . . . 0.517 . . . . . . . . . D D D . 7.608 38 0.998 D N 0.563 5.565 0.379 4.213 0.000 0.638 0.574 0.653 0.564 . 5.500 2.730 0.589 -0.361 0.549 0.993 0.948 0.841 953 GPCR,_family_2-like . . ID=COSV72230261;OCCURENCE=1(stomach),1(lung) ADGRL3 198 0 167 35 0.173267326732673 TRUE TRUE ENSG00000185803.11 . BCM GRCh38.p13 chr8 144360479 144360479 + G G C Missense_Mutation SNP ENST00000643944.2 exon3 c.G987C p.M329I exonic ENSG00000185803.11 . nonsynonymous SNV ENSG00000185803.11:ENST00000643944.2:exon3:c.G987C:p.M329I 8q24.3 C3N-04126 . . . . . . . . . 11.19 D D B B D D M T D 0.666 T T D 0.453 0.703 0.698 0.287 T T D T D . 3.440 24.500 0.988 D D 0.332 3.951 0.421 4.513 1.000 0.672 0.698 0.723 0.711 . 4.690 4.690 9.483 1.176 0.676 1.000 0.984 0.996 940 . . . . SLC52A2 139 0 161 36 0.182741116751269 TRUE TRUE ENSG00000107614.22 . BCM GRCh38.p13 chr10 17157645 17157645 + A A C Missense_Mutation SNP ENST00000377799.8 exon8 c.T683G p.I228S exonic ENSG00000107614.22 . nonsynonymous SNV ENSG00000107614.22:ENST00000377799.8:exon8:c.T683G:p.I228S 10p13 C3N-04126 . . . . . . . . . 7.20 D T P P N D L T N 0.447 T T T 0.136 0.520 0.790 0.018 T D T T D D 3.583 25.000 0.994 D D 0.219 3.390 0.362 4.099 1.000 0.706 0.670 0.710 0.655 . 5.410 5.410 7.631 1.311 0.756 1.000 0.999 0.997 777 . . . . TRDMT1 313 0 247 43 0.148275862068966 TRUE TRUE ENSG00000108231.13 . BCM GRCh38.p13 chr10 93758813 93758813 + C C T Missense_Mutation SNP ENST00000371418.9 exon2 c.C269T p.T90M exonic ENSG00000108231.13 . nonsynonymous SNV ENSG00000108231.13:ENST00000371418.9:exon2:c.C269T:p.T90M 10q23.33 C3N-04126 . . . . . . . . rs796052692 9.20 T T D P D D N D N 0.683 D D D 0.394 0.634 0.685 0.956 T T T T T D 2.382 22.000 0.995 D N 0.116 2.949 0.275 3.575 1.000 0.447 0.563 0.507 0.530 . 5.020 5.020 5.097 0.128 0.599 1.000 0.995 0.998 189 . . . . LGI1 451 2 444 49 0.0993914807302231 TRUE NA ENSG00000110719.10 . BCM GRCh38.p13 chr11 68050592 68050592 + C C G Missense_Mutation SNP ENST00000265686.8 exon19 c.C2342G p.A781G exonic ENSG00000110719.10 . nonsynonymous SNV ENSG00000110719.10:ENST00000265686.8:exon19:c.C2342G:p.A781G 11q13.2 C3N-04126 . . . . . . . . . 18.20 D T D D D D M D D 0.790 D D D 0.733 0.771 0.948 0.662 T D D D D D 3.328 24.200 0.995 D D 0.505 5.071 0.397 4.341 1.000 0.672 0.702 0.723 0.711 . 4.060 4.060 7.758 0.962 0.524 1.000 0.004 0.002 788 . . . . TCIRG1 799 1 785 104 0.116985376827897 TRUE TRUE ENSG00000165323.15 . BCM GRCh38.p13 chr11 92790199 92790199 + A A T Missense_Mutation SNP ENST00000409404.6 exon7 c.A4592T p.K1531M exonic ENSG00000165323.15 . nonsynonymous SNV ENSG00000165323.15:ENST00000409404.6:exon7:c.A4592T:p.K1531M 11q14.3 C3N-04126 . . . . . . . . . 4.15 D . . . . D L T N 0.687 T T T 0.202 0.531 0.165 . T T T T D . 3.170 23.800 0.995 D N 0.440 4.601 0.472 4.910 0.991 0.615 0.590 0.659 0.621 . 6.170 5.050 3.733 1.312 0.756 1.000 1.000 1.000 906 Cadherin-like . . . FAT3 164 0 167 24 0.12565445026178 TRUE TRUE ENSG00000187240.16 . BCM GRCh38.p13 chr11 103156571 103156571 + C C T Nonsense_Mutation SNP ENST00000375735.7 exon26 c.C3928T p.Q1310X exonic ENSG00000187240.16 . stopgain ENSG00000187240.16:ENST00000375735.7:exon26:c.C3928T:p.Q1310X 11q22.3 C3N-04126 . . . . . . . . . 4.6 . . . . N D . . . 0.977 . . . . . . . . . D D . . 7.498 38 0.998 D N 1.109 17.901 0.950 16.072 0.999 0.554 0.574 0.574 0.568 . 5.270 5.270 7.267 1.026 0.599 1.000 0.996 0.990 512 Dynein_heavy_chain,_domain-2 . . ID=COSV100518488;OCCURENCE=1(endometrium) DYNC2H1 520 0 464 58 0.111111111111111 TRUE TRUE ENSG00000204403.9 . BCM GRCh38.p13 chr11 104897312 104897312 + G G C Missense_Mutation SNP ENST00000422698.6 exon2 c.C164G p.A55G exonic ENSG00000204403.9 . nonsynonymous SNV ENSG00000204403.9:ENST00000422698.6:exon2:c.C164G:p.A55G 11q22.3 C3N-04126 . . . . . . . . . 2.15 D . . . N N . T N 0.076 T T T 0.146 0.773 0.088 0.019 T . T T D T 1.495 15.700 0.992 N N -0.236 1.779 -0.316 1.532 0.995 0.713 0.588 0.547 0.670 . 4.570 3.610 0.789 1.148 0.662 0.448 0.018 0.003 883 . . . . CASP12 193 0 185 17 0.0841584158415842 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-04126 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 391 0 367 80 0.178970917225951 TRUE TRUE ENSG00000169397.3 . BCM GRCh38.p13 chr14 20891849 20891849 + C C T Missense_Mutation SNP ENST00000304639.3 exon2 c.C163T p.R55W exonic ENSG00000169397.3 . nonsynonymous SNV ENSG00000169397.3:ENST00000304639.3:exon2:c.C163T:p.R55W 14q11.2 C3N-04126 2.473e-05 9.694e-05 0.0002 0 0 0 0 0 rs115812876 8.20 D D D D U N M T D 0.229 T D T 0.313 . 0.678 0.285 T T T T D T 1.020 11.870 0.997 N N -0.453 1.271 -0.812 0.741 0.970 0.487 0.590 0.574 0.542 . 2.560 -2.510 -3.277 0.049 0.529 0.000 0.103 0.019 867 Ribonuclease_A-domain . . . RNASE3 662 0 688 102 0.129113924050633 TRUE TRUE ENSG00000128731.18 . BCM GRCh38.p13 chr15 28293005 28293005 + T T A Missense_Mutation SNP ENST00000261609.13 exon4 c.A205T p.S69C exonic ENSG00000128731.18 . nonsynonymous SNV ENSG00000128731.18:ENST00000261609.13:exon4:c.A205T:p.S69C 15q13.1 C3N-04126 . . . . . . . . . 3.19 T . B B N D L T N 0.400 T T T 0.050 0.260 0.284 0.155 T T T T D T 2.176 20.700 0.088 D N -0.184 1.921 -0.083 2.096 0.977 0.732 0.709 0.710 0.728 . 4.700 4.700 3.514 0.113 0.586 1.000 0.746 0.842 840 . . . . HERC2 219 0 244 81 0.249230769230769 NA TRUE ENSG00000166747.12 . BCM GRCh38.p13 chr16 71748312 71748312 + T T C Missense_Mutation SNP ENST00000299980.8 exon16 c.A1564G p.T522A exonic ENSG00000166747.12 . nonsynonymous SNV ENSG00000166747.12:ENST00000299980.8:exon16:c.A1564G:p.T522A 16q22.2 C3N-04126 8.277e-06 9.641e-05 0 0 0 0 0 0 rs555677572 15.20 D D D D D D M T D 0.940 T T D 0.565 . 0.711 0.331 D T T D D D 4.023 27.100 0.998 D D 0.809 8.957 0.744 8.661 1.000 0.732 0.725 0.744 0.714 . 4.900 4.900 7.670 1.138 0.665 1.000 1.000 1.000 64 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . AP1G1 313 0 332 27 0.0752089136490251 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7676257 7676257 + G G A Nonsense_Mutation SNP ENST00000269305.8 exon4 c.C112T p.Q38X exonic ENSG00000141510.17 . stopgain ENSG00000141510.17:ENST00000269305.8:exon4:c.C112T:p.Q38X 17p13.1 C3N-04126 . . . . . . . . . 3.6 . . . . U A . . . 0.805 . . . . . . . . . D D . . 4.536 32 0.978 N N -0.139 2.055 -0.549 1.124 0.115 0.722 0.702 0.699 0.735 . 3.410 -1.110 -1.439 0.847 0.672 0.000 0.003 0.027 434 . . . ID=COSV52689258;OCCURENCE=3(oesophagus),1(haematopoietic_and_lymphoid_tissue),1(stomach),1(pancreas),1(prostate),6(lung),2(upper_aerodigestive_tract) TP53 371 0 309 56 0.153424657534247 TRUE TRUE ENSG00000108510.10 . BCM GRCh38.p13 chr17 61983045 61983045 + C C T Missense_Mutation SNP ENST00000397786.7 exon16 c.G2958A p.M986I exonic ENSG00000108510.10 . nonsynonymous SNV ENSG00000108510.10:ENST00000397786.7:exon16:c.G2958A:p.M986I 17q23.2 C3N-04126 . . . . . . . . . 5.20 T T P P D D N T N 0.580 T T T 0.297 0.098 0.522 0.482 T T D T T D 2.641 22.700 0.995 D N 0.246 3.513 0.414 4.461 1.000 0.707 0.725 0.725 0.714 . 6.030 6.030 3.857 1.026 0.599 1.000 1.000 0.998 125 . . . . MED13 230 0 244 45 0.155709342560554 TRUE TRUE ENSG00000141338.14 . BCM GRCh38.p13 chr17 68877520 68877520 + G G A Missense_Mutation SNP ENST00000586539.6 exon33 c.C4198T p.R1400W exonic ENSG00000141338.14 . nonsynonymous SNV ENSG00000141338.14:ENST00000586539.6:exon33:c.C4198T:p.R1400W 17q24.2 C3N-04126 5.073e-05 0 0 0 0 7.584e-05 0 7.001e-05 rs768328938 11.20 D D D D N N L D D 0.632 D D D 0.486 . 0.832 0.102 T T T D T T 2.941 23.300 0.997 N D -0.383 1.421 -0.683 0.924 0.000 0.554 0.574 0.574 0.568 . 4.340 -4.130 -0.170 -0.269 0.665 0.001 0.020 0.075 977 ABC_transporter-like;AAA+_ATPase_domain . . ID=COSV52204487;OCCURENCE=1(stomach) ABCA8 130 0 154 17 0.0994152046783626 TRUE TRUE ENSG00000087460.25 . BCM GRCh38.p13 chr20 58909365 58909365 + C C T Missense_Mutation SNP ENST00000371100.8 exon8 c.C2530T p.R844C exonic ENSG00000087460.25 . nonsynonymous SNV ENSG00000087460.25:ENST00000371100.8:exon8:c.C2530T:p.R844C 20q13.32 C3N-04126 8.238e-06 0 8.64e-05 0 0 0 0 0 rs11554273 20.20 D D D D D D H D D 0.887 D D D 0.943 0.913 0.997 3.743 D D D D D D 4.600 32 0.999 D D 0.934 11.959 0.815 10.570 1.000 0.722 0.699 0.702 0.735 . 5.530 4.530 4.121 1.026 0.599 1.000 0.910 0.934 987 . . . ID=COSV55670339;OCCURENCE=8(breast),5(parathyroid),12(liver),18(peritoneum),2(oesophagus),20(adrenal_gland),9(cervix),84(large_intestine),9(biliary_tract),17(ovary),83(bone),3(NS),3(haematopoietic_and_lymphoid_tissue),32(stomach),3(kidney),26(soft_tissue),265(pancreas),1(autonomic_ganglia),167(pituitary),2(skin),1(prostate),4(lung),8(thyroid),1(upper_aerodigestive_tract),2(testis),34(small_intestine) GNAS 976 1 941 129 0.120560747663551 NA TRUE ENSG00000099960.13 . BCM GRCh38.p13 chr22 21030097 21030097 + G G A Missense_Mutation SNP ENST00000382932.3 exon3 c.C1237T p.R413C exonic ENSG00000099960.13 . nonsynonymous SNV ENSG00000099960.13:ENST00000382932.3:exon3:c.C1237T:p.R413C 22q11.21 C3N-04126 4.524e-05 0 0 0.0004 0 3.285e-05 0 0 rs371765676 19.20 D D D D D D H D D 0.973 D D D 0.845 . 0.971 0.296 T D D D D D 4.343 29.900 0.999 D D 0.978 13.234 0.842 11.500 1.000 0.581 0.547 0.576 0.564 . 5.460 5.460 6.201 1.176 0.676 1.000 0.994 0.986 596 . . . . SLC7A4 377 0 384 52 0.119266055045872 TRUE NA ENSG00000100243.21 . BCM GRCh38.p13 chr22 42627668 42627668 + C C T Missense_Mutation SNP ENST00000352397.10 exon6 c.G484A p.D162N exonic ENSG00000100243.21 . nonsynonymous SNV ENSG00000100243.21:ENST00000352397.10:exon6:c.G484A:p.D162N 22q13.2 C3N-04126 . . . . . . . . . 8.20 T T B B N D L D D 0.316 T T D 0.275 0.398 0.879 0.127 T T T T D D 3.525 24.800 0.972 D D -0.306 1.599 -0.279 1.607 1.000 0.732 0.702 0.744 0.714 . 4.760 1.530 4.996 1.026 0.599 1.000 0.987 0.834 264 . . . . CYB5R3 435 0 466 55 0.105566218809981 TRUE TRUE ENSG00000048707.15 . BCM GRCh38.p13 chr1 12327796 12327796 + C C T Silent SNP ENST00000620676.6 exon36 c.C8139T p.I2713I exonic ENSG00000048707.15 . synonymous SNV ENSG00000048707.15:ENST00000620676.6:exon36:c.C8139T:p.I2713I 1p36.22 C3N-04126 8.237e-06 0 0 0 0 0 0 6.056e-05 rs752121874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VPS13D 527 0 537 70 0.115321252059308 TRUE NA ENSG00000196171.3 . BCM GRCh38.p13 chr1 158700608 158700608 + G G A Silent SNP ENST00000359610.3 exon1 c.C45T p.S15S exonic ENSG00000196171.3 . synonymous SNV ENSG00000196171.3:ENST00000359610.3:exon1:c.C45T:p.S15S 1q23.1 C3N-04126 . . . . . . . . rs929760142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100656709;OCCURENCE=1(large_intestine) OR6K2 175 0 131 21 0.138157894736842 TRUE NA ENSG00000173376.14 . BCM GRCh38.p13 chr4 121036471 121036471 + T T C Silent SNP ENST00000379692.9 exon4 c.A1500G p.Q500Q exonic ENSG00000173376.14 . synonymous SNV ENSG00000173376.14:ENST00000379692.9:exon4:c.A1500G:p.Q500Q 4q27 C3N-04126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDNF 464 0 437 64 0.127744510978044 TRUE TRUE ENSG00000086570.12 . BCM GRCh38.p13 chr5 151531657 151531657 + G G A Silent SNP ENST00000261800.5 exon13 c.C9741T p.G3247G exonic ENSG00000086570.12 . synonymous SNV ENSG00000086570.12:ENST00000261800.5:exon13:c.C9741T:p.G3247G 5q33.1 C3N-04126 2.521e-05 0 8.721e-05 0 0 0 0 0.0001 rs772008822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAT2 639 0 571 105 0.155325443786982 TRUE NA ENSG00000128591.15 . BCM GRCh38.p13 chr7 128841204 128841204 + C C T Silent SNP ENST00000325888.12 exon12 c.C1848T p.I616I exonic ENSG00000128591.15 . synonymous SNV ENSG00000128591.15:ENST00000325888.12:exon12:c.C1848T:p.I616I 7q32.1 C3N-04126 2.488e-05 0 0 0 0 1.502e-05 0 0.0001 rs770173704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FLNC 192 0 157 33 0.173684210526316 TRUE NA ENSG00000167916.5 . BCM GRCh38.p13 chr17 40700121 40700121 + G G A Silent SNP ENST00000264651.3 exon5 c.C1020T p.S340S exonic ENSG00000167916.5 . synonymous SNV ENSG00000167916.5:ENST00000264651.3:exon5:c.C1020T:p.S340S 17q21.2 C3N-04126 1.647e-05 0 0 0 0 2.997e-05 0 0 rs750253983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT24 294 0 242 45 0.156794425087108 TRUE NA ENSG00000198858.10 . BCM GRCh38.p13 chr19 897461 897461 + G G A Silent SNP ENST00000361574.10 exon8 c.C783T p.S261S exonic ENSG00000198858.10 . synonymous SNV ENSG00000198858.10:ENST00000361574.10:exon8:c.C783T:p.S261S 19p13.3 C3N-04126 7.246e-05 0.0006 0 0 0 1.866e-05 0 7.169e-05 rs375137933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . R3HDM4 188 0 178 27 0.131707317073171 TRUE NA ENSG00000101203.16 . BCM GRCh38.p13 chr20 63307548 63307548 + C C T Silent SNP ENST00000358894.10 exon6 c.C555T p.D185D exonic ENSG00000101203.16 . synonymous SNV ENSG00000101203.16:ENST00000358894.10:exon6:c.C555T:p.D185D 20q13.33 C3N-04126 0.0001 0.0001 0 0.0001 0 4.629e-05 0.0012 0.0006 rs767672689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL20A1 243 0 250 39 0.134948096885813 TRUE NA ENSG00000143776.18 . BCM GRCh38.p13 chr1 227068668 227068668 + C C A Intron SNP NA NA NA NA intronic ENSG00000143776.18 . . . 1q42.13 C3N-04126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDC42BPA 105 0 72 7 0.0886075949367089 TRUE TRUE ENSG00000026652.15 . BCM GRCh38.p13 chr6 161144197 161144197 + G G A Intron SNP NA NA NA NA intronic ENSG00000026652.15 . . . 6q26 C3N-04126 . . . . . . . . rs938734659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGPAT4 294 1 284 40 0.123456790123457 TRUE NA ENSG00000236827.1 . BCM GRCh38.p13 chr8 11247648 11247648 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000236827.1 . . . 8p23.1 C3N-04126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00529 99 0 96 19 0.165217391304348 TRUE NA ENSG00000167604.14 . BCM GRCh38.p13 chr19 35890577 35890577 + C C G Intron SNP NA NA NA NA intronic ENSG00000167604.14 . . . 19q13.12 C3N-04126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFKBID 469 0 553 64 0.103727714748784 TRUE NA ENSG00000168843.14 . BCM GRCh38.p13 chr4 161775960 161775961 + CG CG AA Unknown MNP ENST00000306100.10 exon5 c.523_524delinsTT p.R175L exonic ENSG00000168843.14 . nonframeshift substitution ENSG00000168843.14:ENST00000306100.10:exon5:c.523_524delinsTT:p.R175L 4q32.2 C3N-04126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FSTL5 219 0 191 11 0.0544554455445545 TRUE TRUE ENSG00000084636.18 . BCM GRCh38.p13 chr1 31683232 31683232 + G G A Missense_Mutation SNP ENST00000373672.8 exon36 c.C2431T p.R811W exonic ENSG00000084636.18 . nonsynonymous SNV ENSG00000084636.18:ENST00000373672.8:exon36:c.C2431T:p.R811W 1p35.2 C3L-00017 2.485e-05 0.0001 0 0.0001 0 1.499e-05 0 0 rs376617047 16.20 D D D P N D M D D 0.409 D D D 0.601 . 0.923 0.163 T D T D D D 4.446 32 0.997 D D 0.790 8.596 0.758 8.984 1.000 0.615 0.610 0.659 0.568 . 5.530 5.530 4.931 1.176 0.676 1.000 0.871 0.350 749 . . . . COL16A1 220 0 361 65 0.152582159624413 TRUE NA ENSG00000006555.11 . BCM GRCh38.p13 chr1 54781419 54781419 + G G A Missense_Mutation SNP ENST00000371276.9 exon7 c.C1534T p.R512C exonic ENSG00000006555.11 . nonsynonymous SNV ENSG00000006555.11:ENST00000371276.9:exon7:c.C1534T:p.R512C 1p32.3 C3L-00017 . . . . . . . . . 2.20 T T B B N N L T N 0.076 T T D 0.018 0.334 0.300 0.387 D T T T T T 2.226 21.100 0.998 N N -0.666 0.871 -0.587 1.066 0.984 0.598 0.588 0.607 0.639 . 4.590 2.680 0.074 0.069 -0.306 0.000 0.991 0.978 923 . . . . TTC22 57 0 204 52 0.203125 TRUE TRUE ENSG00000196187.12 . BCM GRCh38.p13 chr1 225850043 225850043 + C C T Missense_Mutation SNP ENST00000366835.8 exon21 c.G1940A p.R647Q exonic ENSG00000196187.12 . nonsynonymous SNV ENSG00000196187.12:ENST00000366835.8:exon21:c.G1940A:p.R647Q 1q42.12 C3L-00017 8.241e-06 0 0 0 0 1.499e-05 0 0 rs753018849 12.20 D D D D N D M T D 0.990 T T D 0.352 0.876 0.395 0.810 T T T T D D 4.074 27.500 1.000 D D 0.726 7.491 0.644 6.818 1.000 0.646 0.696 0.644 0.646 . 4.930 4.020 7.448 1.008 0.599 1.000 0.998 0.984 695 Calcium-dependent_channel,_7TM_region,_putative_phosphate . . . TMEM63A 168 0 352 45 0.113350125944584 TRUE NA ENSG00000155816.20 . BCM GRCh38.p13 chr1 240092440 240092440 + G G A Missense_Mutation SNP ENST00000319653.14 exon1 c.G331A p.A111T exonic ENSG00000155816.20 . nonsynonymous SNV ENSG00000155816.20:ENST00000319653.14:exon1:c.G331A:p.A111T 1q43 C3L-00017 . . . . . . . . . 3.20 T T P B D N L T N 0.124 T T D 0.066 . 0.377 0.772 T T T T D T 2.694 22.800 0.969 N N 0.092 2.854 0.135 2.884 1.000 0.652 0.563 0.641 0.619 . 4.200 3.200 2.343 0.995 0.502 1.000 0.999 0.998 964 . . . . FMN2 203 0 335 195 0.367924528301887 TRUE TRUE ENSG00000115504.14 . BCM GRCh38.p13 chr2 63045147 63045147 + C C T Missense_Mutation SNP ENST00000263991.9 exon24 c.C3572T p.A1191V exonic ENSG00000115504.14 . nonsynonymous SNV ENSG00000115504.14:ENST00000263991.9:exon24:c.C3572T:p.A1191V 2p15 C3L-00017 2.6e-05 0 0 0 0 5.062e-05 0 0 rs750441921 10.20 D D D D D D L T N 0.613 T T T 0.149 0.270 0.328 1.741 T T T T D D 4.054 27.400 0.999 D D 0.692 7.006 0.730 8.359 1.000 0.726 0.710 0.594 0.564 . 5.870 5.870 4.553 1.026 0.599 1.000 0.999 0.994 328 bMERB_domain . . ID=COSV99859654;OCCURENCE=1(large_intestine) EHBP1 113 0 227 35 0.133587786259542 TRUE NA ENSG00000168702.18 . BCM GRCh38.p13 chr2 140982255 140982255 + T T A Missense_Mutation SNP ENST00000389484.8 exon18 c.A2792T p.Q931L exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon18:c.A2792T:p.Q931L 2q22.1 C3L-00017 . . . . . . . . . 16.20 D D P P U D M D D 0.790 D D D 0.847 0.484 0.690 0.577 T D D D D D 3.919 26.500 0.996 D D 0.441 4.611 0.415 4.468 0.007 0.554 0.574 0.574 0.568 . 5.430 4.260 7.887 1.118 -0.147 1.000 0.998 0.994 603 . . . . LRP1B 210 0 316 28 0.0813953488372093 TRUE TRUE ENSG00000175084.12 . BCM GRCh38.p13 chr2 219418517 219418517 + G G A Missense_Mutation SNP ENST00000373960.4 exon1 c.G55A p.G19S exonic ENSG00000175084.12 . nonsynonymous SNV ENSG00000175084.12:ENST00000373960.4:exon1:c.G55A:p.G19S 2q35 C3L-00017 . . . . . . . . . 18.20 T D D D D D M D D 0.582 D D D 0.738 0.754 0.954 0.897 T D D D D D 4.067 27.500 0.994 D D 0.709 7.241 0.678 7.364 1.000 0.598 0.590 0.596 0.639 . 5.120 5.120 6.722 1.092 0.590 1.000 0.994 0.983 86 Intermediate_filament_head,_DNA-binding_domain . . . DES 90 0 235 32 0.119850187265918 TRUE TRUE ENSG00000163082.10 . BCM GRCh38.p13 chr2 222558869 222558869 + A A G Missense_Mutation SNP ENST00000321276.8 exon5 c.A1171G p.M391V exonic ENSG00000163082.10 . nonsynonymous SNV ENSG00000163082.10:ENST00000321276.8:exon5:c.A1171G:p.M391V 2q36.1 C3L-00017 . . . . . . . . . 3.19 T T B B D N L . N 0.106 T T T 0.064 0.289 0.261 0.127 T T T T D T 1.368 14.870 0.930 D N -0.301 1.612 -0.178 1.839 0.008 0.672 0.702 0.564 0.568 . 5.510 4.290 1.067 1.312 0.756 0.456 0.939 0.895 930 . . . . SGPP2 114 0 105 28 0.210526315789474 TRUE TRUE ENSG00000114853.14 . BCM GRCh38.p13 chr3 42659416 42659416 + A A G Missense_Mutation SNP ENST00000232974.11 exon2 c.A1061G p.E354G exonic ENSG00000114853.14 . nonsynonymous SNV ENSG00000114853.14:ENST00000232974.11:exon2:c.A1061G:p.E354G 3p22.1 C3L-00017 . . . . . . . . rs899087761 3.16 D T . . . N N T N 0.092 T T D 0.033 . 0.117 0.484 T T T T T T 1.019 11.860 0.851 D . -0.797 0.660 -0.869 0.662 1.000 0.615 0.634 0.576 0.492 . 3.990 -0.120 1.182 0.251 -0.122 0.704 0.018 0.012 365 . . . . ZBTB47 12 1 20 5 0.2 TRUE NA ENSG00000161217.12 . BCM GRCh38.p13 chr3 196257880 196257880 + C C T Missense_Mutation SNP ENST00000431016.6 exon3 c.G125A p.R42Q exonic ENSG00000161217.12 . nonsynonymous SNV ENSG00000161217.12:ENST00000431016.6:exon3:c.G125A:p.R42Q 3q29 C3L-00017 6.72e-05 0 0.0005 0 0 1.526e-05 0.0011 0 rs771223117 3.19 T T P B N D L . N 0.287 T T T 0.226 0.281 0.694 0.033 T T T T T D 2.107 20.200 0.994 D N 0.070 2.771 0.166 3.020 0.918 0.732 0.744 0.710 0.714 . 5.950 4.150 1.254 0.125 0.599 1.000 0.999 0.998 754 . . . . PCYT1A 105 0 153 30 0.163934426229508 TRUE NA ENSG00000169676.6 . BCM GRCh38.p13 chr4 9783116 9783116 + G G A Missense_Mutation SNP ENST00000304374.4 exon1 c.G1087A p.A363T exonic ENSG00000169676.6 . nonsynonymous SNV ENSG00000169676.6:ENST00000304374.4:exon1:c.G1087A:p.A363T 4p16.1 C3L-00017 . . . . . . . . . 11.20 D T D D D D M T D 0.240 T T T 0.214 0.458 0.384 0.808 T T T T D D 3.237 24.000 0.998 D D 0.406 4.381 0.341 3.966 0.929 0.497 0.590 0.563 0.613 . 4.590 3.750 5.396 0.188 -0.162 1.000 0.106 0.854 917 . . . ID=COSV58577739;OCCURENCE=1(large_intestine) DRD5 237 0 307 57 0.156593406593407 TRUE TRUE ENSG00000168594.15 . BCM GRCh38.p13 chr4 174976364 174976364 + G G A Missense_Mutation SNP ENST00000359240.7 exon5 c.G839A p.R280Q exonic ENSG00000168594.15 . nonsynonymous SNV ENSG00000168594.15:ENST00000359240.7:exon5:c.G839A:p.R280Q 4q34.1 C3L-00017 3.407e-05 0 0 0 0 4.574e-05 0.0011 0 rs765339011 6.20 T T D D N N M T D 0.451 T T D 0.177 0.677 0.754 0.371 T T T T D T 2.188 20.800 0.994 N N -0.357 1.478 -0.599 1.048 0.000 0.487 0.574 0.574 0.564 . 4.130 2.260 1.287 0.128 -0.259 0.019 0.000 0.000 960 Peptidase_M12B,_ADAM/reprolysin;Reprolysin_domain,_adamalysin-type . . ID=COSV63660350;OCCURENCE=1(breast),2(stomach),1(pancreas) ADAM29 66 1 74 18 0.195652173913043 TRUE TRUE ENSG00000112902.12 . BCM GRCh38.p13 chr5 9154497 9154497 + C C A Missense_Mutation SNP ENST00000382496.10 exon12 c.G1472T p.R491L exonic ENSG00000112902.12 . nonsynonymous SNV ENSG00000112902.12:ENST00000382496.10:exon12:c.G1472T:p.R491L 5p15.31 C3L-00017 . . . . . . . . rs754065909 1.20 T T B B N N L T D 0.164 T T T 0.053 0.715 0.358 0.403 T T T T T T 1.192 13.570 0.955 N N -1.080 0.325 -1.083 0.394 0.997 0.554 0.574 0.602 0.564 . 5.470 -2.130 0.320 -0.777 -1.135 0.954 0.017 0.022 950 PSI_domain . . ID=COSV66785353;OCCURENCE=1(lung) SEMA5A 220 1 301 56 0.156862745098039 TRUE TRUE ENSG00000204628.12 . BCM GRCh38.p13 chr5 181242313 181242313 + C C T Missense_Mutation SNP ENST00000512805.6 exon2 c.G142A p.D48N exonic ENSG00000204628.12 . nonsynonymous SNV ENSG00000204628.12:ENST00000512805.6:exon2:c.G142A:p.D48N 5q35.3 C3L-00017 . . . . . . . . . 10.19 D T B B D D . T D 0.777 T T D 0.125 0.367 0.508 1.418 D T T T D D 2.997 23.400 0.998 D D 0.131 3.009 0.305 3.747 1.000 0.628 0.672 0.672 0.658 . 5.770 5.770 7.413 0.934 0.599 1.000 0.989 0.728 . WD40-repeat-containing_domain . . . RACK1 89 0 151 20 0.116959064327485 TRUE TRUE ENSG00000146197.9 . BCM GRCh38.p13 chr6 35242768 35242768 + G G A Missense_Mutation SNP ENST00000274938.8 exon14 c.G1681A p.E561K exonic ENSG00000146197.9 . nonsynonymous SNV ENSG00000146197.9:ENST00000274938.8:exon14:c.G1681A:p.E561K 6p21.31 C3L-00017 8.299e-06 0 0 0 0 1.508e-05 0 0 rs771897021 5.20 T T P B D D L D N 0.279 T T T 0.348 0.218 0.353 0.389 T T T T T T 2.369 21.900 0.986 D D 0.003 2.522 0.117 2.807 1.000 0.554 0.547 0.602 0.568 . 5.450 5.450 0.540 1.176 0.676 0.905 0.923 0.972 248 . . . ID=COSV51455032;OCCURENCE=1(stomach),1(kidney) SCUBE3 96 0 134 22 0.141025641025641 TRUE TRUE ENSG00000122687.19 . BCM GRCh38.p13 chr7 2235190 2235190 + T T C Missense_Mutation SNP ENST00000242257.14 exon3 c.A673G p.K225E exonic ENSG00000122687.19 . nonsynonymous SNV ENSG00000122687.19:ENST00000242257.14:exon3:c.A673G:p.K225E 7p22.3 C3L-00017 . . . . . . . . . 6.19 T T P P D D . T N 0.601 T T T 0.137 0.460 0.639 0.715 T T T T D D 3.798 25.800 0.997 D D 0.562 5.560 0.537 5.511 1.000 0.722 0.702 0.698 0.735 . 5.230 5.230 7.532 1.138 0.665 1.000 0.877 0.496 857 Ribosomal_RNA_methyltransferase_FtsJ_domain . . . MRM2 236 0 380 150 0.283018867924528 TRUE TRUE ENSG00000122574.10 . BCM GRCh38.p13 chr7 29889357 29889357 + C C T Missense_Mutation SNP ENST00000242140.9 exon7 c.C1301T p.P434L exonic ENSG00000122574.10 . nonsynonymous SNV ENSG00000122574.10:ENST00000242140.9:exon7:c.C1301T:p.P434L 7p14.3 C3L-00017 1.665e-05 0 0 0 0 3.006e-05 0 0 rs755603892 18.20 D D D D N D M D D 0.734 D D D 0.703 0.410 0.904 0.080 T D D D D D 3.918 26.500 0.999 D D 0.832 9.443 0.794 9.937 1.000 0.719 0.610 0.723 0.530 . 5.430 5.430 5.836 1.026 0.589 1.000 0.997 0.997 829 . . . ID=COSV54208225;OCCURENCE=1(liver) WIPF3 161 0 275 27 0.0894039735099338 TRUE TRUE ENSG00000128602.11 . BCM GRCh38.p13 chr7 129212109 129212109 + G G T Missense_Mutation SNP ENST00000249373.8 exon12 c.G2022T p.K674N exonic ENSG00000128602.11 . nonsynonymous SNV ENSG00000128602.11:ENST00000249373.8:exon12:c.G2022T:p.K674N 7q32.1 C3L-00017 . . . . . . . . . 6.20 T T P B D D L T N 0.329 T T D 0.260 0.190 0.567 0.266 T D T T D T 2.784 23.000 0.997 D N 0.122 2.974 0.201 3.188 0.995 0.719 0.710 0.723 0.636 . 5.380 4.400 2.778 1.176 0.676 1.000 0.999 0.998 703 . . . . SMO 269 0 294 97 0.248081841432225 TRUE TRUE ENSG00000213265.8 . BCM GRCh38.p13 chr7 130671760 130671760 + C C T Missense_Mutation SNP ENST00000456951.5 exon8 c.G559A p.E187K exonic ENSG00000213265.8 . nonsynonymous SNV ENSG00000213265.8:ENST00000456951.5:exon8:c.G559A:p.E187K 7q32.2 C3L-00017 2.471e-05 0 0 0.0001 0 1.499e-05 0 6.057e-05 rs782369380 12.19 D D D D D D M . D 0.622 T T T 0.169 0.308 0.230 0.305 T T D D D T 3.702 25.400 0.999 D N 0.547 5.425 0.558 5.736 1.000 0.603 0.574 0.574 0.663 . 5.460 5.460 2.075 1.026 0.599 0.994 0.998 0.968 940 . . . ID=COSV58406542;OCCURENCE=1(stomach) TSGA13 187 0 218 52 0.192592592592593 TRUE TRUE ENSG00000122728.6 . BCM GRCh38.p13 chr9 32633056 32633056 + G G A Missense_Mutation SNP ENST00000242310.4 exon1 c.C2524T p.R842W exonic ENSG00000122728.6 . nonsynonymous SNV ENSG00000122728.6:ENST00000242310.4:exon1:c.C2524T:p.R842W 9p21.1 C3L-00017 . . . . . . . . . 11.20 D D D D D D M T D 0.216 T T T 0.251 0.436 0.611 0.609 T T T T D D 3.393 24.400 0.999 D N 0.311 3.835 0.118 2.809 0.282 0.638 0.670 0.602 0.655 . 1.190 1.190 3.554 0.310 0.268 1.000 0.982 0.977 835 Transcription_initiation_factor_TFIID_subunit_1,_domain_of_unknown_function . . ID=COSV54267869;OCCURENCE=1(oesophagus) TAF1L 630 1 975 134 0.12082957619477 NA TRUE ENSG00000148482.12 . BCM GRCh38.p13 chr10 17991172 17991172 + G G A Missense_Mutation SNP ENST00000377369.7 exon8 c.G1291A p.E431K exonic ENSG00000148482.12 . nonsynonymous SNV ENSG00000148482.12:ENST00000377369.7:exon8:c.G1291A:p.E431K 10p12.33 C3L-00017 . . . . . . . . . 6.20 T T D P N D M T N 0.376 T T T 0.153 0.580 0.260 0.029 T T T T D D 3.056 23.500 0.999 D N 0.385 4.250 0.371 4.156 0.046 0.560 0.624 0.574 0.564 . 5.880 4.040 2.417 0.226 -0.107 1.000 0.993 0.993 . . . . ID=COSV66199180;OCCURENCE=1(lung) SLC39A12 76 0 138 12 0.08 TRUE TRUE ENSG00000167360.6 . BCM GRCh38.p13 chr11 5422341 5422341 + C C G Missense_Mutation SNP ENST00000300778.4 exon1 c.C141G p.I47M exonic ENSG00000167360.6 . nonsynonymous SNV ENSG00000167360.6:ENST00000300778.4:exon1:c.C141G:p.I47M 11p15.4 C3L-00017 . . . . . . . . . 9.20 D D D D N D M T D 0.379 T T T 0.168 0.675 0.188 0.033 T T T T D D 1.087 12.640 0.995 N N -0.103 2.164 -0.316 1.532 0.191 0.487 0.563 0.574 0.564 . 5.000 -0.995 -2.748 -0.709 0.346 0.000 0.011 0.469 668 GPCR,_rhodopsin-like,_7TM . . . OR51Q1 209 0 350 47 0.118387909319899 TRUE TRUE ENSG00000007372.23 . BCM GRCh38.p13 chr11 31790743 31790743 + G G A Nonsense_Mutation SNP ENST00000643871.1 exon12 c.C1150T p.Q384X exonic ENSG00000007372.23 . stopgain ENSG00000007372.23:ENST00000643871.1:exon12:c.C1150T:p.Q384X 11p13 C3L-00017 . . . . . . . . . 5.6 . . . . D D . . . 0.953 . . . . . . . . . D D . . 7.849 39 0.997 D N 1.218 25.453 1.100 27.028 1.000 0.554 0.588 0.602 0.542 . 5.810 5.810 9.511 1.089 0.676 1.000 1.000 1.000 440 . . . ID=COSV53792782;OCCURENCE=1(oesophagus) PAX6 369 1 597 83 0.122058823529412 TRUE TRUE ENSG00000135362.14 . BCM GRCh38.p13 chr11 36462501 36462501 + C C T Missense_Mutation SNP ENST00000530639.6 exon9 c.C872T p.T291M exonic ENSG00000135362.14 . nonsynonymous SNV ENSG00000135362.14:ENST00000530639.6:exon9:c.C872T:p.T291M 11p12 C3L-00017 . . . . . . . . . 17.19 D D D D D D M D D 0.945 D D D 0.717 0.386 0.740 0.977 T T D D D D 3.821 25.900 0.999 D . 0.786 8.512 0.762 9.102 1.000 0.706 0.588 0.710 0.621 . 5.240 5.240 7.223 1.026 0.599 1.000 0.998 0.997 883 . . . . PRR5L 48 0 128 25 0.163398692810458 TRUE NA ENSG00000110195.13 . BCM GRCh38.p13 chr11 72196130 72196130 + C C A Missense_Mutation SNP ENST00000393676.5 exon4 c.C727A p.P243T exonic ENSG00000110195.13 . nonsynonymous SNV ENSG00000110195.13:ENST00000393676.5:exon4:c.C727A:p.P243T 11q13.4 C3L-00017 . . . . . . . . . 2.20 T T B B N N M T N 0.282 T T D 0.180 0.500 0.409 0.453 T T T T T T -0.084 0.896 0.579 N N -1.119 0.290 -1.239 0.252 0.054 0.554 0.574 0.602 0.530 . 4.550 -2.700 -0.824 0.128 -0.273 0.000 0.004 0.006 804 . . . . FOLR1 310 0 533 106 0.165884194053208 NA TRUE ENSG00000150764.14 . BCM GRCh38.p13 chr11 111937533 111937533 + G G A Missense_Mutation SNP ENST00000440460.7 exon1 c.G34A p.D12N exonic ENSG00000150764.14 . nonsynonymous SNV ENSG00000150764.14:ENST00000440460.7:exon1:c.G34A:p.D12N 11q23.1 C3L-00017 . . . . . . . . . 7.19 D T B B D D L T N 0.343 T T D 0.210 0.278 0.721 0.193 . T T T D T 3.532 24.800 0.998 D D 0.005 2.531 0.199 3.181 1.000 0.442 0.542 0.520 0.562 . 4.860 4.860 5.939 1.101 0.590 1.000 1.000 0.999 93 . . . . DIXDC1 155 0 289 41 0.124242424242424 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-00017 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 295 1 344 74 0.177033492822967 TRUE TRUE ENSG00000180818.5 . BCM GRCh38.p13 chr12 53985277 53985277 + T T G Missense_Mutation SNP ENST00000303460.5 exon1 c.T18G p.N6K exonic ENSG00000180818.5 . nonsynonymous SNV ENSG00000180818.5:ENST00000303460.5:exon1:c.T18G:p.N6K 12q13.13 C3L-00017 . . . . . . . . . 14.20 D D P D N D L D D 0.495 D D D 0.598 0.405 0.821 0.464 D D T T D T 3.939 26.600 0.997 D D 0.522 5.213 0.465 4.853 1.000 0.652 0.596 0.607 0.710 . 4.180 4.180 2.711 1.135 0.665 1.000 1.000 1.000 195 . . . . HOXC10 49 0 66 5 0.0704225352112676 TRUE TRUE ENSG00000123329.20 . BCM GRCh38.p13 chr12 57476893 57476893 + G G A Missense_Mutation SNP ENST00000393797.7 exon9 c.C941T p.P314L exonic ENSG00000123329.20 . nonsynonymous SNV ENSG00000123329.20:ENST00000393797.7:exon9:c.C941T:p.P314L 12q13.3 C3L-00017 2.476e-05 9.664e-05 0 0 0 0 0 0.0001 rs145403284 9.20 D D D D N D M T D 0.576 T T T 0.115 . 0.792 0.317 T T T T T D 4.166 28.300 0.992 D N 0.239 3.482 0.228 3.323 1.000 0.677 0.522 0.673 0.530 . 4.380 4.380 3.807 1.176 0.676 0.995 0.984 0.982 323 . . . ID=COSV99954603;OCCURENCE=1(central_nervous_system) ARHGAP9 359 0 582 97 0.142857142857143 TRUE NA ENSG00000129566.13 . BCM GRCh38.p13 chr14 20396676 20396676 + C C T Missense_Mutation SNP ENST00000262715.10 exon10 c.G1604A p.R535Q exonic ENSG00000129566.13 . nonsynonymous SNV ENSG00000129566.13:ENST00000262715.10:exon10:c.G1604A:p.R535Q 14q11.2 C3L-00017 8.863e-06 0 0 0 0 1.597e-05 0 0 rs769367433 8.20 T D D D D N M T N 0.354 T T T 0.136 0.654 0.415 0.460 T T T T D D 2.832 23.100 0.999 D N 0.554 5.481 0.523 5.373 1.000 0.707 0.725 0.659 0.636 . 5.590 5.590 1.794 0.955 0.530 0.919 0.964 0.852 917 TROVE_domain . . ID=COSV52987297;OCCURENCE=1(oesophagus),1(large_intestine),1(NS) TEP1 108 0 138 19 0.121019108280255 TRUE TRUE ENSG00000139915.21 . BCM GRCh38.p13 chr14 46874198 46874198 + C C G Missense_Mutation SNP ENST00000399232.8 exon13 c.G2440C p.E814Q exonic ENSG00000139915.21 . nonsynonymous SNV ENSG00000139915.21:ENST00000399232.8:exon13:c.G2440C:p.E814Q 14q21.3 C3L-00017 . . . . . . . . . 7.20 D T B B U D M T N 0.469 T T T 0.136 0.413 0.346 1.386 T T T T D D 2.956 23.300 0.996 D D 0.185 3.239 0.275 3.572 0.440 0.487 0.574 0.574 0.564 . 5.680 5.680 4.730 1.008 0.599 1.000 0.999 0.986 853 MAM_domain . . . MDGA2 66 0 56 8 0.125 TRUE TRUE ENSG00000126777.18 . BCM GRCh38.p13 chr14 55678362 55678362 + C C A Nonsense_Mutation SNP ENST00000395314.8 exon42 c.C3866A p.S1289X exonic ENSG00000126777.18 . stopgain ENSG00000126777.18:ENST00000395314.8:exon42:c.C3866A:p.S1289X 14q22.3 C3L-00017 . . . . . . . . . 5.7 . . . . N A . . . 0.945 . . . . . . . . . D D D . 8.372 42 0.996 D N 0.745 7.801 0.607 6.314 0.998 0.732 0.744 0.725 0.714 . 5.600 4.710 4.264 1.026 0.599 0.998 0.873 0.984 399 . . . . KTN1 113 0 195 22 0.101382488479263 TRUE TRUE ENSG00000198838.13 . BCM GRCh38.p13 chr15 33826705 33826705 + G G A Missense_Mutation SNP ENST00000634891.1 exon84 c.G11198A p.R3733H exonic ENSG00000198838.13 . nonsynonymous SNV ENSG00000198838.13:ENST00000634891.1:exon84:c.G11198A:p.R3733H 15q14 C3L-00017 3.32e-05 0.0001 8.639e-05 0 0 1.5e-05 0 6.136e-05 rs374140172 7.19 T . P B N N N D N 0.420 D D D 0.410 . 0.879 0.427 T D T T T D 2.703 22.800 0.993 D N -0.026 2.419 0.116 2.800 0.993 0.497 0.590 0.547 0.542 . 5.150 4.230 4.220 0.245 0.676 0.656 0.735 0.938 827 RyR/IP3R_Homology_associated_domain . . ID=COSV66801181;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(upper_aerodigestive_tract) RYR3 141 0 187 57 0.233606557377049 TRUE TRUE ENSG00000103657.14 . BCM GRCh38.p13 chr15 63749502 63749502 + C C A Missense_Mutation SNP ENST00000443617.7 exon10 c.G2084T p.G695V exonic ENSG00000103657.14 . nonsynonymous SNV ENSG00000103657.14:ENST00000443617.7:exon10:c.G2084T:p.G695V 15q22.31 C3L-00017 . . . . . . . . . 19.20 D D D D U D H D D 0.943 D D D 0.973 0.805 0.884 1.932 D D D D D D 3.420 24.500 0.998 D D 1.108 17.881 1.012 19.586 1.000 0.707 0.725 0.651 0.714 . 5.790 5.790 7.905 1.026 0.599 1.000 0.968 0.928 668 . . . . HERC1 186 0 197 66 0.250950570342205 TRUE TRUE ENSG00000138615.6 . BCM GRCh38.p13 chr15 65205454 65205454 + C C T Missense_Mutation SNP ENST00000261883.6 exon5 c.G437A p.R146Q exonic ENSG00000138615.6 . nonsynonymous SNV ENSG00000138615.6:ENST00000261883.6:exon5:c.G437A:p.R146Q 15q22.31 C3L-00017 8.548e-06 0.0001 0 0 0 0 0 0 rs758135189 0.20 T T B B N N N T N 0.128 T T T 0.014 0.423 0.250 0.132 T T T T T T 0.132 2.388 0.958 N N -1.112 0.296 -1.053 0.427 0.050 0.497 0.590 0.547 0.542 . 5.560 0.470 -0.210 -0.229 -0.800 0.228 0.237 0.214 649 . . . . CILP 97 0 125 52 0.293785310734463 TRUE NA ENSG00000103197.18 . BCM GRCh38.p13 chr16 2071908 2071908 + C C T Missense_Mutation SNP ENST00000219476.9 exon19 c.C2071T p.R691C exonic ENSG00000103197.18 . nonsynonymous SNV ENSG00000103197.18:ENST00000219476.9:exon19:c.C2071T:p.R691C 16p13.3 C3L-00017 6.939e-05 0.0003 0 0 0 4.629e-05 0.0032 0 rs760489473 11.20 D D D P N D L D D 0.370 T T D 0.549 . 0.863 . T D T D T D 2.626 22.700 0.994 D N -0.510 1.157 -0.407 1.359 0.018 0.635 0.644 0.645 0.636 . 5.450 1.040 0.491 0.128 0.599 0.227 0.745 0.911 769 Tuberin-type_domain . . ID=COSV54782931;OCCURENCE=1(endometrium) TSC2 173 0 173 55 0.241228070175439 TRUE TRUE ENSG00000078328.21 . BCM GRCh38.p13 chr16 7518234 7518234 + G G A Missense_Mutation SNP ENST00000550418.6 exon5 c.G115A p.A39T exonic ENSG00000078328.21 . nonsynonymous SNV ENSG00000078328.21:ENST00000550418.6:exon5:c.G115A:p.A39T 16p13.3 C3L-00017 8.241e-06 0 8.637e-05 0 0 0 0 0 rs749566543 8.20 T T D D D D L T N 0.705 T T T 0.205 0.119 0.320 0.018 T T T T D D 3.543 24.800 0.996 D D 0.268 3.619 0.390 4.286 1.000 0.554 0.574 0.618 0.564 . 4.850 4.850 9.266 1.176 0.676 1.000 0.997 0.991 964 . . . ID=COSV60983781;OCCURENCE=1(liver),1(oesophagus) RBFOX1 168 0 170 61 0.264069264069264 TRUE TRUE ENSG00000140678.17 . BCM GRCh38.p13 chr16 31359775 31359775 + C C T Missense_Mutation SNP ENST00000268296.9 exon6 c.C506T p.T169M exonic ENSG00000140678.17 . nonsynonymous SNV ENSG00000140678.17:ENST00000268296.9:exon6:c.C506T:p.T169M 16p11.2 C3L-00017 5.769e-05 0.0002 0 0.0001 0 0 0 0.0002 rs146081281 2.19 T T B B . N L D N 0.127 T T D 0.219 . 0.343 0.214 T T T T T T -1.606 0.001 0.717 N N -2.121 0.005 -2.252 0.004 1.000 0.706 0.710 0.578 0.568 . 4.820 -9.640 -4.218 -3.928 -5.252 0.000 0.000 0.000 287 von_Willebrand_factor,_type_A . . ID=COSV99191482;OCCURENCE=1(large_intestine) ITGAX 215 0 322 38 0.105555555555556 TRUE NA ENSG00000172831.14 . BCM GRCh38.p13 chr16 66940237 66940237 + C C T Missense_Mutation SNP ENST00000317091.10 exon4 c.C439T p.H147Y exonic ENSG00000172831.14 . nonsynonymous SNV ENSG00000172831.14:ENST00000317091.10:exon4:c.C439T:p.H147Y 16q22.1 C3L-00017 . . . . . . . . . 12.17 D D . . D D . T D 0.920 T T D 0.785 . 0.409 0.766 T T D D D D 3.291 24.100 0.998 D D 0.609 6.021 0.563 5.787 1.000 0.706 0.694 0.710 0.711 . 5.350 4.400 5.782 1.000 0.599 1.000 0.873 0.615 136 Carboxylesterase,_type_B . . . CES2 115 0 189 10 0.050251256281407 TRUE NA ENSG00000006788.14 . BCM GRCh38.p13 chr17 10350580 10350580 + G G A Nonsense_Mutation SNP ENST00000252172.9 exon12 c.C1120T p.Q374X exonic ENSG00000006788.14 . stopgain ENSG00000006788.14:ENST00000252172.9:exon12:c.C1120T:p.Q374X 17p13.1 C3L-00017 8.259e-06 0 0 0 0 1.501e-05 0 0 rs751347030 4.5 . . . . . A . . . 0.321 . . . . . . . . . D D . . 7.956 40 0.999 D N 1.135 19.211 0.952 16.196 1.000 0.487 0.590 0.547 0.564 . 4.150 4.150 9.846 1.172 0.672 1.000 0.985 0.815 67 Myosin_head,_motor_domain . . . MYH13 89 0 102 20 0.163934426229508 TRUE NA ENSG00000007174.18 . BCM GRCh38.p13 chr17 11930047 11930047 + C C T Missense_Mutation SNP ENST00000262442.9 exon63 c.C12059T p.T4020M exonic ENSG00000007174.18 . nonsynonymous SNV ENSG00000007174.18:ENST00000262442.9:exon63:c.C12059T:p.T4020M 17p12 C3L-00017 1.653e-05 0 8.673e-05 0.0001 0 0 0 0 rs774626535 10.20 D D D P D D M T D 0.237 T T T 0.163 0.427 0.611 0.130 T T T T D D 2.821 23.100 0.998 D N 0.369 4.159 0.253 3.454 0.002 0.578 0.574 0.608 0.564 . 5.190 3.060 2.241 1.026 0.599 0.563 0.993 0.990 645 Dynein_heavy_chain_domain . . . DNAH9 185 0 188 47 0.2 TRUE NA ENSG00000081138.14 . BCM GRCh38.p13 chr18 65859020 65859020 + G G A Missense_Mutation SNP ENST00000397968.4 exon9 c.G1468A p.V490I exonic ENSG00000081138.14 . nonsynonymous SNV ENSG00000081138.14:ENST00000397968.4:exon9:c.G1468A:p.V490I 18q22.1 C3L-00017 2.475e-05 0 8.696e-05 0 0 1.5e-05 0 6.058e-05 rs761625164 4.20 T T P B D D N T N 0.359 T T T 0.137 0.541 0.387 0.392 T T T T T D 2.219 21.000 0.990 D N -0.061 2.302 -0.022 2.286 0.474 0.554 0.574 0.618 0.564 . 5.320 4.420 3.862 1.176 0.618 1.000 0.995 0.984 994 Cadherin-like . . . CDH7 178 0 276 50 0.153374233128834 TRUE NA ENSG00000142549.9 . BCM GRCh38.p13 chr19 51326878 51326878 + G G A Missense_Mutation SNP ENST00000270642.8 exon5 c.G626A p.R209H exonic ENSG00000142549.9 . nonsynonymous SNV ENSG00000142549.9:ENST00000270642.8:exon5:c.G626A:p.R209H 19q13.41 C3L-00017 . . . . . . . . . 11.20 D D D D D D L T D 0.161 T T D 0.109 0.454 0.315 2.584 T T T T D D 4.279 29.400 0.999 D N 0.580 5.725 0.555 5.697 0.994 0.767 0.578 0.851 0.563 . 4.890 4.890 2.898 1.176 0.674 1.000 0.998 0.998 940 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV54536450;OCCURENCE=1(large_intestine),1(endometrium) IGLON5 296 0 461 82 0.151012891344383 TRUE TRUE ENSG00000130726.12 . BCM GRCh38.p13 chr19 58549011 58549011 + T T C Missense_Mutation SNP ENST00000253024.10 exon12 c.T1433C p.V478A exonic ENSG00000130726.12 . nonsynonymous SNV ENSG00000130726.12:ENST00000253024.10:exon12:c.T1433C:p.V478A 19q13.43 C3L-00017 . . . . . . . . . 6.20 T D P B N D L T N 0.581 T T D 0.151 0.356 0.569 1.104 T T T T D T 3.100 23.600 0.981 D D -0.235 1.780 -0.143 1.930 1.000 0.672 0.698 0.702 0.711 . 4.950 4.950 1.308 1.129 0.654 1.000 1.000 0.891 958 . . . . TRIM28 232 0 401 80 0.166320166320166 TRUE TRUE ENSG00000101004.15 . BCM GRCh38.p13 chr20 25477030 25477030 + C C T Missense_Mutation SNP ENST00000278886.11 exon17 c.G2261A p.R754H exonic ENSG00000101004.15 . nonsynonymous SNV ENSG00000101004.15:ENST00000278886.11:exon17:c.G2261A:p.R754H 20p11.21 C3L-00017 . . . . . . . . . 0.20 T T P B N N N T N 0.158 T T T 0.048 0.122 0.140 0.200 T T T T T T 0.413 5.573 0.971 N N -1.044 0.359 -1.191 0.291 0.027 0.696 0.547 0.723 0.636 . 2.580 -1.790 -0.405 0.025 0.522 0.000 0.001 0.004 575 . . . ID=COSV54000699;OCCURENCE=1(urinary_tract) NINL 162 0 293 61 0.172316384180791 TRUE TRUE ENSG00000101180.16 . BCM GRCh38.p13 chr20 62216661 62216661 + C C T Missense_Mutation SNP ENST00000340177.10 exon3 c.G683A p.R228H exonic ENSG00000101180.16 . nonsynonymous SNV ENSG00000101180.16:ENST00000340177.10:exon3:c.G683A:p.R228H 20q13.33 C3L-00017 8.511e-06 0 0 0 0 1.562e-05 0 0 rs779379623 14.20 D D D D D D M T D 0.598 T T D 0.339 0.790 0.820 1.392 D T T T D D 3.465 24.600 1.000 D D 0.460 4.738 0.433 4.605 1.000 0.701 0.547 0.717 0.563 . 4.520 4.520 3.468 1.006 0.526 0.998 0.988 0.826 856 GPCR,_rhodopsin-like,_7TM . . . HRH3 220 0 310 59 0.159891598915989 TRUE NA ENSG00000258555.6 . BCM GRCh38.p13 chr22 24321339 24321339 + G G C Missense_Mutation SNP ENST00000358654.2 exon5 c.G359C p.S120T exonic ENSG00000258555.6 . nonsynonymous SNV ENSG00000258555.6:ENST00000358654.2:exon5:c.G359C:p.S120T 22q11.23 C3L-00017 . . . . . . . . . 7.16 D D . . D D . T D 0.252 T T T 0.066 0.142 0.575 0.378 T . T T D T 2.151 20.500 0.990 D N 0.051 2.698 0.237 3.368 1.000 0.707 0.725 0.725 0.714 . 5.720 4.670 3.929 1.176 0.676 0.995 1.000 0.998 862 . . . . SPECC1L-ADORA2A 402 0 414 111 0.211428571428571 TRUE TRUE ENSG00000196433.13 . BCM GRCh38.p13 chrX 1629888 1629888 + G G A Missense_Mutation SNP ENST00000381229.9 exon5 c.G511A p.V171M exonic ENSG00000196433.13 . nonsynonymous SNV ENSG00000196433.13:ENST00000381229.9:exon5:c.G511A:p.V171M Xp22.33 C3L-00017 7.413e-05 0.0002 8.637e-05 0 0.0002 7.492e-05 0 0 rs121918820 6.19 D D D P U N M T N 0.466 T T T 0.244 . 0.598 0.131 T T T T T D 2.232 21.100 0.992 D . . . . . 1.000 . . . . . 1.450 1.450 3.146 0.705 0.501 0.999 0.014 0.009 1000 O-methyltransferase,_family_2 . . . ASMT 522 0 1079 80 0.0690250215703192 TRUE NA ENSG00000183304.10 . BCM GRCh38.p13 chrX 8796278 8796278 + - NA T Frame_Shift_Ins NA ENST00000543214.1 exon6 c.477dupA p.Q160Tfs*8 exonic ENSG00000183304.10 . frameshift insertion ENSG00000183304.10:ENST00000543214.1:exon6:c.477dupA:p.Q160Tfs*8 Xp22.31 C3L-00017 0.0018 0.0013 0.0045 0.0009 0.0004 0.0020 0 0.0007 rs748967872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM9A NA NA NA NA NA NA NA ENSG00000126012.12 . BCM GRCh38.p13 chrX 53193014 53193014 + G G A Missense_Mutation SNP ENST00000375401.8 exon26 c.C4636T p.R1546W exonic ENSG00000126012.12 . nonsynonymous SNV ENSG00000126012.12:ENST00000375401.8:exon26:c.C4636T:p.R1546W Xp11.22 C3L-00017 1.397e-05 0 0 0.0002 0 0 0 0 rs782154592 5.19 D D P B U N N D N 0.474 T T D 0.268 0.200 0.586 0.696 T T T T T D 2.387 22.000 0.997 N . . . . . 0.554 . . . . . 4.630 2.770 1.377 1.154 0.648 0.997 0.923 0.992 99 . . . . KDM5C 24 0 30 19 0.387755102040816 TRUE NA ENSG00000147246.10 . BCM GRCh38.p13 chrX 114906850 114906850 + C C T Missense_Mutation SNP ENST00000276198.6 exon6 c.C812T p.T271M exonic ENSG00000147246.10 . nonsynonymous SNV ENSG00000147246.10:ENST00000276198.6:exon6:c.C812T:p.T271M Xq23 C3L-00017 1.14e-05 0 0.0001 0 0 0 0 0 rs782383804 0.14 T T . . N N . T N 0.075 T T T 0.118 0.389 0.425 0.620 T . T T T . 1.039 12.110 0.989 N . . . . . 1.000 . . . . . 4.290 -0.148 0.457 -0.176 0.549 0.000 0.001 0.204 810 . . . ID=COSV52201784;OCCURENCE=1(large_intestine),1(stomach),1(endometrium) HTR2C 178 0 159 97 0.37890625 TRUE TRUE ENSG00000078900.15 . BCM GRCh38.p13 chr1 3730955 3730955 + C C T Silent SNP ENST00000378295.9 exon12 c.C1374T p.H458H exonic ENSG00000078900.15 . synonymous SNV ENSG00000078900.15:ENST00000378295.9:exon12:c.C1374T:p.H458H 1p36.32 C3L-00017 3.42e-05 0 0.0001 0 0 0 0 0.0002 rs762610584 8.15 D T . . . D . D N 0.228 D D D 0.311 . 0.635 . . T D D T T -0.475 0.134 0.988 N N -1.259 0.188 -1.315 0.199 0.790 0.672 0.702 0.645 0.613 . 5.130 -1.510 0.099 -0.721 -0.826 0.010 0.004 0.001 817 . . . . TP73 81 0 240 47 0.163763066202091 TRUE NA ENSG00000162728.5 . BCM GRCh38.p13 chr1 160084738 160084738 + C C T Silent SNP ENST00000368088.4 exon2 c.C708T p.D236D exonic ENSG00000162728.5 . synonymous SNV ENSG00000162728.5:ENST00000368088.4:exon2:c.C708T:p.D236D 1q23.2 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63631533;OCCURENCE=1(large_intestine) KCNJ9 291 1 726 85 0.104808877928483 TRUE TRUE ENSG00000152092.16 . BCM GRCh38.p13 chr1 177061117 177061117 + C C T Silent SNP ENST00000361833.7 exon2 c.G432A p.S144S exonic ENSG00000152092.16 . synonymous SNV ENSG00000152092.16:ENST00000361833.7:exon2:c.G432A:p.S144S 1q25.2 C3L-00017 1.686e-05 0 0 0 0 3.036e-05 0 0 rs778838558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56067931;OCCURENCE=1(large_intestine),1(urinary_tract) ASTN1 65 0 74 50 0.403225806451613 TRUE TRUE ENSG00000115705.22 . BCM GRCh38.p13 chr2 1423106 1423106 + C C T Silent SNP ENST00000329066.9 exon3 c.C156T p.T52T exonic ENSG00000115705.22 . synonymous SNV ENSG00000115705.22:ENST00000329066.9:exon3:c.C156T:p.T52T 2p25.3 C3L-00017 2.5e-05 0 8.712e-05 0 0 1.517e-05 0 6.101e-05 rs770575352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TPO 436 1 710 110 0.134146341463415 TRUE NA ENSG00000183023.18 . BCM GRCh38.p13 chr2 40429288 40429288 + C C T Silent SNP ENST00000403092.5 exon2 c.G993A p.K331K exonic ENSG00000183023.18 . synonymous SNV ENSG00000183023.18:ENST00000403092.5:exon2:c.G993A:p.K331K 2p22.1 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC8A1 323 0 437 55 0.111788617886179 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178725955 178725955 + C C T Silent SNP ENST00000591111.5 exon68 c.G19416A p.P6472P exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon68:c.G19416A:p.P6472P 2q31.2 C3L-00017 5.022e-05 0 0 0 0 9.074e-05 0 0 rs368422028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59868786;OCCURENCE=1(cervix),1(large_intestine) TTN 89 0 107 19 0.150793650793651 TRUE TRUE ENSG00000163516.14 . BCM GRCh38.p13 chr2 219235278 219235278 + C C T Silent SNP ENST00000323348.10 exon10 c.C1657T p.L553L exonic ENSG00000163516.14 . synonymous SNV ENSG00000163516.14:ENST00000323348.10:exon10:c.C1657T:p.L553L 2q35 C3L-00017 . . . . . . . . rs113918917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKZF1 100 0 191 42 0.180257510729614 TRUE NA ENSG00000164078.13 . BCM GRCh38.p13 chr3 49895267 49895267 + G G T Silent SNP ENST00000296474.8 exon14 c.C3171A p.I1057I exonic ENSG00000164078.13 . synonymous SNV ENSG00000164078.13:ENST00000296474.8:exon14:c.C3171A:p.I1057I 3p21.31 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MST1R 491 0 863 53 0.0578602620087336 TRUE TRUE ENSG00000206384.10 . BCM GRCh38.p13 chr3 130563474 130563474 + C C T Silent SNP ENST00000358511.10 exon2 c.C471T p.D157D exonic ENSG00000206384.10 . synonymous SNV ENSG00000206384.10:ENST00000358511.10:exon2:c.C471T:p.D157D 3q22.1 C3L-00017 6.629e-05 0 0.0002 0 0 5.997e-05 0 0.0001 rs748065583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62019101;OCCURENCE=1(large_intestine),1(bone),1(thyroid) COL6A6 220 0 318 52 0.140540540540541 TRUE TRUE ENSG00000028310.18 . BCM GRCh38.p13 chr5 865469 865469 + C C T Silent SNP ENST00000467963.6 exon15 c.G1638A p.P546P exonic ENSG00000028310.18 . synonymous SNV ENSG00000028310.18:ENST00000467963.6:exon15:c.G1638A:p.P546P 5p15.33 C3L-00017 0.0017 0.0187 0.0008 0 0 4.531e-05 0 0 rs112085533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRD9 125 0 188 35 0.15695067264574 TRUE NA ENSG00000113430.10 . BCM GRCh38.p13 chr5 1879787 1879787 + G G A Silent SNP ENST00000231357.7 exon4 c.C453T p.R151R exonic ENSG00000113430.10 . synonymous SNV ENSG00000113430.10:ENST00000231357.7:exon4:c.C453T:p.R151R 5p15.33 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51472689;OCCURENCE=1(large_intestine) IRX4 221 0 261 52 0.166134185303514 TRUE TRUE ENSG00000186479.5 . BCM GRCh38.p13 chr5 64575777 64575777 + G G A Silent SNP ENST00000334025.3 exon3 c.G336A p.P112P exonic ENSG00000186479.5 . synonymous SNV ENSG00000186479.5:ENST00000334025.3:exon3:c.G336A:p.P112P 5q12.3 C3L-00017 2.497e-05 9.623e-05 0 0 0 0 0 0.0001 rs142936124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS7BP 114 0 126 18 0.125 TRUE NA ENSG00000152377.14 . BCM GRCh38.p13 chr5 137498547 137498547 + G G A Silent SNP ENST00000394945.6 exon2 c.C12T p.I4I exonic ENSG00000152377.14 . synonymous SNV ENSG00000152377.14:ENST00000394945.6:exon2:c.C12T:p.I4I 5q31.2 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPOCK1 78 0 132 18 0.12 TRUE NA ENSG00000164853.9 . BCM GRCh38.p13 chr7 1236539 1236539 + G G T Silent SNP ENST00000316333.9 exon3 c.G1158T p.P386P exonic ENSG00000164853.9 . synonymous SNV ENSG00000164853.9:ENST00000316333.9:exon3:c.G1158T:p.P386P 7p22.3 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNCX 88 0 223 36 0.138996138996139 TRUE TRUE ENSG00000096968.14 . BCM GRCh38.p13 chr9 5055779 5055779 + T T G Silent SNP ENST00000381652.4 exon8 c.T1047G p.G349G exonic ENSG00000096968.14 . synonymous SNV ENSG00000096968.14:ENST00000381652.4:exon8:c.T1047G:p.G349G 9p24.1 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JAK2 146 0 134 21 0.135483870967742 TRUE TRUE ENSG00000107731.12 . BCM GRCh38.p13 chr10 71279861 71279861 + G G A Silent SNP ENST00000335350.10 exon2 c.G120A p.P40P exonic ENSG00000107731.12 . synonymous SNV ENSG00000107731.12:ENST00000335350.10:exon2:c.G120A:p.P40P 10q22.1 C3L-00017 7.538e-05 0.0006 0 0.0001 0 3.06e-05 0 0 rs144307815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC5B 289 0 373 89 0.192640692640693 TRUE NA ENSG00000148814.18 . BCM GRCh38.p13 chr10 132348057 132348057 + G G A Silent SNP ENST00000368614.8 exon6 c.G627A p.A209A exonic ENSG00000148814.18 . synonymous SNV ENSG00000148814.18:ENST00000368614.8:exon6:c.G627A:p.A209A 10q26.3 C3L-00017 7.434e-05 0.0003 0 0 0.0002 4.513e-05 0 0.0001 rs758352841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59806984;OCCURENCE=1(central_nervous_system),1(lung) LRRC27 173 0 271 34 0.111475409836066 TRUE TRUE ENSG00000182272.12 . BCM GRCh38.p13 chr11 375893 375893 + C C T Silent SNP ENST00000329962.11 exon11 c.C1032T p.C344C exonic ENSG00000182272.12 . synonymous SNV ENSG00000182272.12:ENST00000329962.11:exon11:c.C1032T:p.C344C 11p15.5 C3L-00017 . . . . . . . . rs1035639538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100327087;OCCURENCE=1(endometrium) B4GALNT4 208 0 379 47 0.110328638497653 TRUE NA ENSG00000109906.14 . BCM GRCh38.p13 chr11 114186983 114186983 + C C T Silent SNP ENST00000335953.9 exon4 c.C1398T p.C466C exonic ENSG00000109906.14 . synonymous SNV ENSG00000109906.14:ENST00000335953.9:exon4:c.C1398T:p.C466C 11q23.2 C3L-00017 4.119e-05 0.0003 0 0 0 1.499e-05 0 6.057e-05 rs116547293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60091982;OCCURENCE=2(large_intestine) ZBTB16 456 0 627 100 0.137551581843191 TRUE TRUE ENSG00000174527.9 . BCM GRCh38.p13 chr12 109388781 109388781 + G G A Silent SNP ENST00000310903.9 exon2 c.G111A p.A37A exonic ENSG00000174527.9 . synonymous SNV ENSG00000174527.9:ENST00000310903.9:exon2:c.G111A:p.A37A 12q24.11 C3L-00017 4.152e-05 0.0004 0 0 0 1.501e-05 0 0 rs548292658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60451628;OCCURENCE=1(large_intestine),1(biliary_tract) MYO1H 94 0 114 16 0.123076923076923 TRUE TRUE ENSG00000102699.6 . BCM GRCh38.p13 chr13 24426501 24426501 + T T C Silent SNP ENST00000381989.4 exon33 c.A4944G p.K1648K exonic ENSG00000102699.6 . synonymous SNV ENSG00000102699.6:ENST00000381989.4:exon33:c.A4944G:p.K1648K 13q12.12 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PARP4 195 0 181 53 0.226495726495726 NA TRUE ENSG00000254585.5 . BCM GRCh38.p13 chr15 23646522 23646522 + C C T Silent SNP ENST00000650528.1 exon1 c.G1221A p.P407P exonic ENSG00000254585.5 . synonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.G1221A:p.P407P 15q11.2 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEL2 18 0 39 9 0.1875 TRUE NA ENSG00000159433.12 . BCM GRCh38.p13 chr15 42693695 42693695 + G G A Silent SNP ENST00000290607.12 exon23 c.G12117A p.P4039P exonic ENSG00000159433.12 . synonymous SNV ENSG00000159433.12:ENST00000290607.12:exon23:c.G12117A:p.P4039P 15q15.2 C3L-00017 . . . . . . . . rs922143606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STARD9 215 0 327 81 0.198529411764706 TRUE NA ENSG00000120071.14 . BCM GRCh38.p13 chr17 46038616 46038616 + G G A Silent SNP ENST00000432791.6 exon10 c.C2463T p.P821P exonic ENSG00000120071.14 . synonymous SNV ENSG00000120071.14:ENST00000432791.6:exon10:c.C2463T:p.P821P 17q21.31 C3L-00017 2.472e-05 0 0 0 0 0 0 0.0002 rs765044321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANSL1 192 0 228 49 0.176895306859206 TRUE NA ENSG00000182621.18 . BCM GRCh38.p13 chr20 8757159 8757159 + C C A Silent SNP ENST00000338037.11 exon24 c.C2637A p.L879L exonic ENSG00000182621.18 . synonymous SNV ENSG00000182621.18:ENST00000338037.11:exon24:c.C2637A:p.L879L 20p12.3 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLCB1 71 0 110 8 0.0677966101694915 TRUE TRUE ENSG00000156299.13 . BCM GRCh38.p13 chr21 31141326 31141326 + G G A Silent SNP ENST00000286827.7 exon22 c.C3654T p.D1218D exonic ENSG00000156299.13 . synonymous SNV ENSG00000156299.13:ENST00000286827.7:exon22:c.C3654T:p.D1218D 21q22.11 C3L-00017 8.258e-06 0 0 0 0 1.502e-05 0 0 rs375189386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54539208;OCCURENCE=1(oesophagus),1(large_intestine),1(stomach) TIAM1 131 0 224 21 0.0857142857142857 TRUE TRUE ENSG00000008256.16 . BCM GRCh38.p13 chr7 6172885 6172885 + A A G Intron SNP NA NA NA NA intronic ENSG00000008256.16 . . . 7p22.1 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYTH3 51 0 96 40 0.294117647058824 TRUE NA ENSG00000122550.18 . BCM GRCh38.p13 chr7 23174452 23174452 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000122550.18 ENST00000339077.10:c.*154G>A . . 7p15.3 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KLHL7 404 0 514 42 0.0755395683453237 TRUE NA ENSG00000158516.12 . BCM GRCh38.p13 chr7 130282101 130282101 + - NA A Intron SNP NA NA NA NA intronic ENSG00000158516.12 . . . 7q32.2 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPA2 NA NA NA NA NA NA NA ENSG00000139629.16 . BCM GRCh38.p13 chr12 51403210 51403210 + G G T IGR SNP NA NA NA NA intergenic ENSG00000139629.16;ENSG00000271065.1 dist=11804;dist=18746 . . 12q13.13 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GALNT6 146 0 203 36 0.150627615062762 TRUE NA ENSG00000165899.11 . BCM GRCh38.p13 chr12 80436301 80436301 + C C G IGR SNP NA NA NA NA intergenic ENSG00000165899.11;ENSG00000139304.16 dist=55422;dist=7934 . . 12q21.31 C3L-00017 . . . . . . . . . 3.12 T . . . . . . T D . T T . 0.255 0.565 0.067 . . T T T D T 1.031 12.010 0.777 D N 0.023 2.593 -0.024 2.278 0.026 0.487 0.574 0.574 0.564 . 4.840 4.840 3.536 0.028 0.587 1.000 0.043 0.005 900 Fibronectin_type_III . . . OTOGL 85 0 111 11 0.0901639344262295 TRUE TRUE ENSG00000092140.16 . BCM GRCh38.p13 chr14 30560761 30560761 + T T C Intron SNP NA NA NA NA intronic ENSG00000092140.16 . . . 14q12 C3L-00017 . . . . . . . . . 1.14 D . . . . N . T N 0.283 T T T 0.056 0.398 0.247 . . T T T T T 0.834 9.733 0.628 N N -0.741 0.746 -0.910 0.607 1.000 0.033 0.435 0.507 0.404 . 3.340 0.811 1.433 0.171 -0.150 0.017 0.041 0.012 963 . . . . G2E3 110 0 144 34 0.191011235955056 TRUE TRUE ENSG00000054690.14 . BCM GRCh38.p13 chr14 67586416 67586416 + C C T Intron SNP NA NA NA NA intronic ENSG00000054690.14 . . . 14q24.1 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHH1 281 0 356 42 0.105527638190955 TRUE NA ENSG00000169896.18 . BCM GRCh38.p13 chr16 31326962 31326962 + G G - Intron SNP NA NA NA NA intronic ENSG00000169896.18 . . . 16p11.2 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGAM 208 0 230 47 0.169675090252708 TRUE NA ENSG00000265179.7 . BCM GRCh38.p13 chr18 905015 905015 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000265179.7 . . . 18p11.32 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP000894.2 104 0 182 25 0.120772946859903 TRUE NA ENSG00000243064.8 . BCM GRCh38.p13 chr21 14291613 14291613 + A A C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000243064.8 . . . 21q11.2 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCC13 115 0 145 15 0.09375 TRUE NA ENSG00000100220.12 . BCM GRCh38.p13 chr22 32388044 32388045 + CC CC TT Unknown MNP ENST00000216038.6 exon12 c.1465_1466delinsAA p.G489K exonic ENSG00000100220.12 . nonframeshift substitution ENSG00000100220.12:ENST00000216038.6:exon12:c.1465_1466delinsAA:p.G489K 22q12.3 C3L-00017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RTCB 179 73 240 66 0.215686274509804 TRUE TRUE ENSG00000066056.14 . BCM GRCh38.p13 chr1 43307444 43307444 + G G A Missense_Mutation SNP ENST00000372476.8 exon6 c.G785A p.G262D exonic ENSG00000066056.14 . nonsynonymous SNV ENSG00000066056.14:ENST00000372476.8:exon6:c.G785A:p.G262D 1p34.2 C3L-01689 . . . . . . . . . 13.20 T T D D N D M D N 0.902 D D D 0.531 0.112 0.982 1.235 T T D D D T 4.183 28.500 0.998 D D 0.830 9.403 0.802 10.187 1.000 0.672 0.693 0.645 0.711 . 5.260 5.260 9.559 1.176 0.618 1.000 0.996 0.917 662 . . . . TIE1 204 0 354 320 0.474777448071217 TRUE TRUE ENSG00000198626.17 . BCM GRCh38.p13 chr1 237550644 237550644 + C C T Missense_Mutation SNP ENST00000366574.7 exon27 c.C3167T p.T1056M exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon27:c.C3167T:p.T1056M 1q43 C3L-01689 2.62e-05 0 0 0 0 0 0 0.0001 rs779146564 17.19 D . D P U D M D D 0.891 D D D 0.802 0.495 0.871 1.164 D D D D D D 3.604 25.100 0.999 D D 0.782 8.437 0.715 8.049 1.000 0.554 0.574 0.618 0.564 . 5.140 5.140 7.798 1.026 0.599 1.000 0.689 0.576 940 0.000 . . ID=COSV63707037;OCCURENCE=1(large_intestine),2(stomach) RYR2 168 0 144 34 0.191011235955056 TRUE TRUE ENSG00000168754.15 . BCM GRCh38.p13 chr2 96972122 96972122 + C C T Missense_Mutation SNP ENST00000490605.3 exon3 c.G343A p.V115M exonic ENSG00000168754.15 . nonsynonymous SNV ENSG00000168754.15:ENST00000490605.3:exon3:c.G343A:p.V115M 2q11.2 C3L-01689 0.0001 0 0 0 0 0 0 0.0003 rs533483443 3.15 D D . . . N . T N 0.183 T T D 0.109 . 0.270 0.367 T . T T T T 1.129 13.040 0.994 N N -0.921 0.494 -1.073 0.404 0.017 0.497 0.547 0.578 0.542 . 4.040 -1.140 -0.817 0.113 -0.313 0.000 0.018 0.001 86 . . . ID=COSV59970237;OCCURENCE=2(liver) FAM178B 54 0 98 16 0.140350877192982 TRUE TRUE ENSG00000163075.13 . BCM GRCh38.p13 chr2 119627712 119627712 + T T C Missense_Mutation SNP ENST00000413369.8 exon16 c.T1576C p.F526L exonic ENSG00000163075.13 . nonsynonymous SNV ENSG00000163075.13:ENST00000413369.8:exon16:c.T1576C:p.F526L 2q14.2 C3L-01689 8.237e-06 0 0 0 0 1.499e-05 0 0 rs764563519 0.20 T T B B N N L T N 0.266 T T T 0.061 0.244 0.061 0.022 T T T T T T 1.057 12.320 0.536 N N -0.846 0.591 -0.808 0.746 0.727 0.554 0.590 0.602 0.530 . 4.180 4.180 1.892 1.123 0.645 0.036 0.017 0.013 908 . . . . CFAP221 239 0 344 64 0.156862745098039 TRUE NA ENSG00000187231.14 . BCM GRCh38.p13 chr2 179172148 179172148 + - NA A Frame_Shift_Ins NA ENST00000428443.8 exon5 c.340dupT p.W114Lfs*6 exonic ENSG00000187231.14 . frameshift insertion ENSG00000187231.14:ENST00000428443.8:exon5:c.340dupT:p.W114Lfs*6 2q31.2 C3L-01689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SESTD1 NA NA NA NA NA NA NA ENSG00000163053.11 . BCM GRCh38.p13 chr2 230046366 230046366 + C C T Missense_Mutation SNP ENST00000295190.9 exon4 c.G760A p.G254R exonic ENSG00000163053.11 . nonsynonymous SNV ENSG00000163053.11:ENST00000295190.9:exon4:c.G760A:p.G254R 2q36.3 C3L-01689 8.268e-06 0 0 0 0 1.504e-05 0 0 rs754868546 0.20 T T B B N N L T N 0.076 T T T 0.058 0.502 0.040 0.447 T T T T T T 0.635 7.849 0.541 N N -0.974 0.432 -0.994 0.497 0.001 0.615 0.588 0.616 0.621 . 4.800 0.795 0.205 1.026 0.599 0.000 0.012 0.030 952 Major_facilitator_superfamily_domain . . . SLC16A14 306 0 350 89 0.202733485193622 TRUE NA ENSG00000114446.5 . BCM GRCh38.p13 chr3 108166927 108166927 + C C T Missense_Mutation SNP ENST00000264538.4 exon8 c.G908A p.R303Q exonic ENSG00000114446.5 . nonsynonymous SNV ENSG00000114446.5:ENST00000264538.4:exon8:c.G908A:p.R303Q 3q13.12 C3L-01689 1.659e-05 0 0 0 0 1.507e-05 0 6.066e-05 rs771681320 18.19 D D D D D D M . D 0.953 D D D 0.733 0.935 0.827 0.845 T D D D D D 4.127 28.000 1.000 D D 0.951 12.456 0.903 13.884 1.000 0.693 0.659 0.659 0.564 . 5.780 5.780 7.032 1.026 0.599 1.000 1.000 0.992 438 . . . ID=COSV52708404;OCCURENCE=1(pancreas) IFT57 297 0 337 54 0.138107416879795 TRUE TRUE ENSG00000152580.8 . BCM GRCh38.p13 chr3 151446488 151446488 + C C T Missense_Mutation SNP ENST00000282466.3 exon4 c.G3493A p.V1165M exonic ENSG00000152580.8 . nonsynonymous SNV ENSG00000152580.8:ENST00000282466.3:exon4:c.G3493A:p.V1165M 3q25.1 C3L-01689 . . . . . . . . . 0.20 T T B B N N L T N 0.035 T T T 0.028 0.152 0.303 0.022 T T T T T T -0.023 1.197 0.463 N N -1.087 0.318 -1.078 0.399 1.000 0.554 0.574 0.602 0.542 . 5.120 0.628 -0.178 -0.771 -0.427 0.000 0.002 0.015 813 . . . . IGSF10 287 1 390 61 0.135254988913525 TRUE TRUE ENSG00000109606.13 . BCM GRCh38.p13 chr4 24570657 24570657 + A A C Missense_Mutation SNP ENST00000336812.5 exon3 c.T698G p.L233R exonic ENSG00000109606.13 . nonsynonymous SNV ENSG00000109606.13:ENST00000336812.5:exon3:c.T698G:p.L233R 4p15.2 C3L-01689 . . . . . . . . . 17.20 D D D D D D H T D 0.980 D T D 0.792 0.852 0.913 3.539 D T D D D D 4.823 33 0.997 D D 1.035 15.057 0.929 15.031 1.000 0.737 0.699 0.733 0.711 . 5.380 5.380 8.947 1.312 0.691 1.000 1.000 0.990 548 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . DHX15 200 0 208 54 0.206106870229008 TRUE TRUE ENSG00000174123.11 . BCM GRCh38.p13 chr4 38774632 38774632 + T T C Missense_Mutation SNP ENST00000308973.9 exon4 c.A959G p.Y320C exonic ENSG00000174123.11 . nonsynonymous SNV ENSG00000174123.11:ENST00000308973.9:exon4:c.A959G:p.Y320C 4p14 C3L-01689 . . . . . . . . . 16.20 D D D P D D M D D 0.704 D D D 0.663 0.444 0.984 0.372 T T D D D T 3.446 24.500 0.997 D D 0.473 4.834 0.386 4.260 1.000 0.632 0.698 0.547 0.530 . 5.130 3.900 5.930 1.138 0.609 1.000 0.809 0.700 725 . . . . TLR10 98 0 90 21 0.189189189189189 TRUE TRUE ENSG00000138802.11 . BCM GRCh38.p13 chr4 109463084 109463084 + C C A Missense_Mutation SNP ENST00000265175.5 exon2 c.C317A p.T106K exonic ENSG00000138802.11 . nonsynonymous SNV ENSG00000138802.11:ENST00000265175.5:exon2:c.C317A:p.T106K 4q25 C3L-01689 . . . . . . . . . 2.20 D T B B N N N T N 0.470 T T D 0.138 0.306 0.294 0.217 T T T T T T 1.291 14.320 0.914 N N -0.802 0.651 -0.744 0.836 1.000 0.707 0.725 0.725 0.714 . 5.260 4.410 1.779 1.026 0.549 0.004 0.024 0.268 885 . . . ID=COSV99494207;OCCURENCE=1(ovary) SEC24B 296 0 309 89 0.223618090452261 TRUE TRUE ENSG00000169194.9 . BCM GRCh38.p13 chr5 132659745 132659745 + C C G Missense_Mutation SNP ENST00000304506.7 exon3 c.C250G p.L84V exonic ENSG00000169194.9 . nonsynonymous SNV ENSG00000169194.9:ENST00000304506.7:exon3:c.C250G:p.L84V 5q31.1 C3L-01689 . . . . . . . . . 5.16 D T . . N N . T D 0.644 T T D 0.312 0.765 0.839 0.608 T . D T D T 2.252 21.200 0.997 N N 0.162 3.140 -0.039 2.232 1.000 0.601 0.597 0.578 0.613 . 4.020 4.020 0.649 0.947 0.599 0.117 0.112 0.554 882 . . . . IL13 166 0 201 41 0.169421487603306 TRUE TRUE ENSG00000113108.19 . BCM GRCh38.p13 chr5 140558757 140558757 + C C T Missense_Mutation SNP ENST00000357560.8 exon13 c.G1289A p.R430H exonic ENSG00000113108.19 . nonsynonymous SNV ENSG00000113108.19:ENST00000357560.8:exon13:c.G1289A:p.R430H 5q31.3 C3L-01689 8.668e-06 0 0 0 0 0 0 6.112e-05 rs755227669 8.20 D T D D N D L T N 0.160 T T D 0.106 0.337 0.620 1.018 T T T T D D 2.997 23.400 0.999 D N 0.404 4.368 0.405 4.397 1.000 0.651 0.644 0.644 0.684 . 4.760 4.760 1.052 1.026 0.599 0.730 1.000 0.996 214 . . . ID=COSV60366572;OCCURENCE=1(stomach) APBB3 197 0 255 57 0.182692307692308 TRUE TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152442086 152442086 + G G A Missense_Mutation SNP ENST00000367255.10 exon31 c.C3997T p.R1333C exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon31:c.C3997T:p.R1333C 6q25.2 C3L-01689 . . . . . . . . rs1018039106 16.20 D D D P N D M D D 0.495 D D D 0.225 0.397 0.915 0.556 T D D T D D 3.299 24.100 0.999 D D 0.551 5.457 0.559 5.743 0.055 0.487 0.574 0.489 0.564 . 5.190 5.190 3.624 1.176 0.676 1.000 0.963 0.733 699 . . . ID=COSV54900080;OCCURENCE=1(large_intestine),2(stomach),2(haematopoietic_and_lymphoid_tissue) SYNE1 458 0 621 136 0.179656538969617 TRUE TRUE ENSG00000221900.6 . BCM GRCh38.p13 chr7 53035817 53035817 + G G A Missense_Mutation SNP ENST00000408890.6 exon1 c.G146A p.R49H exonic ENSG00000221900.6 . nonsynonymous SNV ENSG00000221900.6:ENST00000408890.6:exon1:c.G146A:p.R49H 7p12.1 C3L-01689 0.0001 0 0 0.0015 0 0 0 0.0002 rs558199586 0.19 T T B B . N N T N 0.026 T T T 0.012 0.107 0.014 0.074 T T T T T T -0.232 0.436 0.912 N N -1.993 0.009 -2.094 0.008 0.004 0.487 0.574 0.547 0.564 . 1.680 -3.360 -2.133 -0.366 -0.330 0.000 0.000 0.001 981 . . . ID=COSV68693778;OCCURENCE=2(large_intestine) POM121L12 331 2 424 89 0.173489278752437 TRUE TRUE ENSG00000165102.15 . BCM GRCh38.p13 chr8 43199525 43199525 + A A G Missense_Mutation SNP ENST00000379644.9 exon18 c.A1864G p.I622V exonic ENSG00000165102.15 . nonsynonymous SNV ENSG00000165102.15:ENST00000379644.9:exon18:c.A1864G:p.I622V 8p11.21 C3L-01689 . . . . . . . . . 9.16 D T . . D D . T N 0.384 T T D 0.445 . 0.758 0.229 T . D T D D 3.056 23.500 0.997 D D 0.529 5.270 0.546 5.611 1.000 0.707 0.725 0.653 0.714 . 5.290 5.290 7.025 1.312 0.756 1.000 0.997 0.994 478 . . . . HGSNAT 93 0 117 20 0.145985401459854 TRUE TRUE ENSG00000167123.19 . BCM GRCh38.p13 chr9 128424441 128424441 + C C A Missense_Mutation SNP ENST00000372838.9 exon5 c.C593A p.P198H exonic ENSG00000167123.19 . nonsynonymous SNV ENSG00000167123.19:ENST00000372838.9:exon5:c.C593A:p.P198H 9q34.11 C3L-01689 . . . . . . . . . 12.20 D D D P D D M T D 0.686 T T D 0.226 0.334 0.726 0.629 T T T T D D 3.754 25.600 0.997 D D 0.612 6.047 0.543 5.572 1.000 0.707 0.670 0.668 0.714 . 4.750 3.860 2.877 1.026 0.549 1.000 0.992 0.929 389 . . . . CERCAM 415 1 614 137 0.182423435419441 TRUE TRUE ENSG00000165312.6 . BCM GRCh38.p13 chr10 23439710 23439710 + G G T Missense_Mutation SNP ENST00000376495.4 exon1 c.G253T p.A85S exonic ENSG00000165312.6 . nonsynonymous SNV ENSG00000165312.6:ENST00000376495.4:exon1:c.G253T:p.A85S 10p12.2 C3L-01689 . . . . . . . . . 1.19 T T B B U N L . N 0.097 T T D 0.038 0.226 0.124 . T T T T T T 1.795 17.690 0.927 N N -0.755 0.723 -0.677 0.933 1.000 0.658 0.172 0.619 0.622 . 2.200 1.170 0.934 0.909 0.453 0.979 0.852 0.802 921 . . . . OTUD1 97 0 176 67 0.275720164609054 TRUE TRUE ENSG00000172987.13 . BCM GRCh38.p13 chr10 98743982 98743982 + G G A Missense_Mutation SNP ENST00000370552.8 exon4 c.C685T p.R229C exonic ENSG00000172987.13 . nonsynonymous SNV ENSG00000172987.13:ENST00000370552.8:exon4:c.C685T:p.R229C 10q24.2 C3L-01689 6.592e-05 0 8.64e-05 0.0001 0 8.991e-05 0 0 rs539208193 8.20 D D D P N D N T N 0.336 T T D 0.194 . 0.356 0.704 T T T T T D 4.249 29.100 0.999 D D 0.448 4.656 0.498 5.141 0.836 0.487 0.574 0.574 0.564 . 5.680 4.780 5.438 1.176 0.618 1.000 1.000 0.999 289 . . . ID=COSV65183049;OCCURENCE=1(breast) HPSE2 536 0 679 133 0.163793103448276 TRUE TRUE ENSG00000184956.16 . BCM GRCh38.p13 chr11 1026442 1026442 + C C G Missense_Mutation SNP ENST00000421673.7 exon20 c.G2431C p.E811Q exonic ENSG00000184956.16 . nonsynonymous SNV ENSG00000184956.16:ENST00000421673.7:exon20:c.G2431C:p.E811Q 11p15.5 C3L-01689 . . . . . . . . . 0.18 T T P B . N L T N 0.136 T T T 0.033 0.505 0.197 0.088 T T T T T . 0.604 7.553 0.671 N N -1.158 0.258 -1.357 0.175 0.215 0.421 0.551 0.578 0.563 . 3.480 -3.170 0.082 -1.281 -0.910 0.000 0.006 0.082 825 Trypsin_Inhibitor-like,_cysteine_rich_domain . . . MUC6 45 0 116 14 0.107692307692308 TRUE TRUE ENSG00000166105.16 . BCM GRCh38.p13 chr11 134283757 134283757 + G G A Missense_Mutation SNP ENST00000431683.7 exon6 c.G548A p.R183Q exonic ENSG00000166105.16 . nonsynonymous SNV ENSG00000166105.16:ENST00000431683.7:exon6:c.G548A:p.R183Q 11q25 C3L-01689 4.722e-05 0 0 0.0005 0 1.676e-05 0 0 rs550517910 2.19 T T B B . N N D N 0.195 T D T 0.178 0.370 0.219 0.040 T T T T T T -0.807 0.024 0.795 N N -1.426 0.106 -1.428 0.138 0.784 0.707 0.588 0.725 0.542 . 4.490 -2.440 -0.109 -2.657 -2.822 0.000 0.000 0.002 930 Glycoside_hydrolase_35,_catalytic_domain . . ID=COSV66281241;OCCURENCE=1(cervix),1(large_intestine),1(NS),1(soft_tissue) GLB1L3 193 1 257 60 0.189274447949527 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01689 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 450 0 543 124 0.185907046476762 TRUE TRUE ENSG00000187950.8 . BCM GRCh38.p13 chr12 29427638 29427638 + G G A Missense_Mutation SNP ENST00000318184.9 exon28 c.C3338T p.A1113V exonic ENSG00000187950.8 . nonsynonymous SNV ENSG00000187950.8:ENST00000318184.9:exon28:c.C3338T:p.A1113V 12p11.22 C3L-01689 . . . . . . . . . 3.14 D D . . . N . D N 0.094 T T T 0.270 0.104 0.644 0.038 T . T T T . 0.362 4.996 0.587 N N -0.774 0.693 -1.010 0.477 0.793 0.487 0.547 0.574 0.613 . 0.724 -0.631 -0.775 0.573 0.567 0.000 0.087 0.066 818 . . . . OVCH1 193 0 386 25 0.0608272506082725 TRUE TRUE ENSG00000166886.13 . BCM GRCh38.p13 chr12 57091655 57091655 + C C T Missense_Mutation SNP ENST00000300131.8 exon2 c.C614T p.S205L exonic ENSG00000166886.13 . nonsynonymous SNV ENSG00000166886.13:ENST00000300131.8:exon2:c.C614T:p.S205L 12q13.3 C3L-01689 . . . . . . . . . 3.19 T T D P N N L . N 0.326 T T T 0.070 0.411 0.289 1.474 T T T T D D 2.666 22.800 0.999 N N 0.067 2.758 0.057 2.563 1.000 0.490 0.714 0.465 0.509 . 4.360 4.360 1.795 1.022 0.596 0.016 0.865 0.940 214 . . . . NAB2 143 0 148 36 0.195652173913043 TRUE TRUE ENSG00000155980.12 . BCM GRCh38.p13 chr12 57577759 57577759 + C C A Missense_Mutation SNP ENST00000455537.7 exon21 c.C2347A p.L783M exonic ENSG00000155980.12 . nonsynonymous SNV ENSG00000155980.12:ENST00000455537.7:exon21:c.C2347A:p.L783M 12q13.3 C3L-01689 . . . . . . . . . 14.20 D T D D D D M T N 0.526 D D D 0.397 0.230 0.747 1.605 D T T T D D 3.963 26.700 0.996 D D 0.768 8.182 0.706 7.864 1.000 0.672 0.588 0.702 0.616 . 4.950 4.950 3.319 1.026 0.594 0.996 1.000 1.000 278 . . . . KIF5A 582 0 784 171 0.179057591623037 TRUE TRUE ENSG00000171435.14 . BCM GRCh38.p13 chr12 117761453 117761453 + C C T Missense_Mutation SNP ENST00000339824.7 exon4 c.G544A p.V182M exonic ENSG00000171435.14 . nonsynonymous SNV ENSG00000171435.14:ENST00000339824.7:exon4:c.G544A:p.V182M 12q24.23 C3L-01689 . . . . . . . . . 3.20 T T B B N N N T N 0.255 T T T 0.197 0.243 0.562 0.686 T T T T T D 2.257 21.300 0.996 D D -0.081 2.236 0.104 2.752 0.696 0.554 0.588 0.576 0.613 . 4.630 4.630 5.638 1.026 0.549 1.000 0.937 0.962 872 . . . ID=COSV100348492;OCCURENCE=1(endometrium) KSR2 369 0 450 91 0.168207024029575 TRUE TRUE ENSG00000166123.14 . BCM GRCh38.p13 chr16 46906859 46906859 + C C T Nonsense_Mutation SNP ENST00000340124.9 exon5 c.C460T p.Q154X exonic ENSG00000166123.14 . stopgain ENSG00000166123.14:ENST00000340124.9:exon5:c.C460T:p.Q154X 16q11.2 C3L-01689 . . . . . . . . . 5.6 . . . . D A . . . 0.803 . . . . . . . . . D D . . 7.395 38 0.998 D N 0.835 9.511 0.675 7.313 1.000 0.707 0.659 0.702 0.714 . 4.330 4.330 4.666 1.026 0.549 1.000 0.997 0.997 608 Aminotransferase,_class_I/classII . . . GPT2 183 0 296 76 0.204301075268817 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7676241 7676241 + A A - Nonsense_Mutation SNP ENST00000269305.8 exon4 c.128delT p.L43* exonic ENSG00000141510.17 . stopgain ENSG00000141510.17:ENST00000269305.8:exon4:c.128delT:p.L43* 17p13.1 C3L-01689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 368 0 292 105 0.26448362720403 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11822861 11822861 + A A G Missense_Mutation SNP ENST00000262442.9 exon48 c.A9073G p.T3025A exonic ENSG00000007174.18 . nonsynonymous SNV ENSG00000007174.18:ENST00000262442.9:exon48:c.A9073G:p.T3025A 17p12 C3L-01689 . . . . . . . . . 0.19 T . B B N N N T N 0.118 T T T 0.011 0.289 0.182 0.086 T T T T T T 0.972 11.280 0.802 N N -1.182 0.240 -1.115 0.361 0.000 0.554 0.574 0.602 0.564 . 4.060 0.584 0.620 0.318 -0.054 0.000 0.896 0.966 799 Dynein_heavy_chain,_AAA_module_D4 . . . DNAH9 437 0 347 95 0.214932126696833 TRUE TRUE ENSG00000141068.14 . BCM GRCh38.p13 chr17 27588529 27588529 + C C T Missense_Mutation SNP ENST00000644974.1 exon6 c.C1040T p.T347M exonic ENSG00000141068.14 . nonsynonymous SNV ENSG00000141068.14:ENST00000644974.1:exon6:c.C1040T:p.T347M 17q11.2 C3L-01689 0.0002 0 0 0.0006 0 0.0002 0 0 rs369066812 7.15 . D . . N D . T . 0.757 T T D 0.314 . 0.779 1.144 T T T T D D 3.244 24.000 0.999 D D 0.560 5.540 0.454 4.763 1.000 0.707 0.577 0.644 0.714 . 6.030 5.060 5.520 1.000 0.599 1.000 0.337 0.322 131 Protein_kinase_C-like,_phorbol_ester/diacylglycerol-binding_domain . . ID=COSV52028611;OCCURENCE=1(large_intestine),1(prostate) KSR1 87 0 131 23 0.149350649350649 TRUE TRUE ENSG00000277399.5 . BCM GRCh38.p13 chr17 38337666 38337666 + G G A Nonsense_Mutation SNP ENST00000616987.5 exon3 c.C958T p.R320X exonic ENSG00000277399.5 . stopgain ENSG00000277399.5:ENST00000616987.5:exon3:c.C958T:p.R320X 17q12 C3L-01689 3.315e-05 0 0 0 0 4.5e-05 0 6.059e-05 rs768587459 4.6 . . . . N A . . . 0.102 . . . . . . . . . D D . . 6.839 36 0.998 D N 0.518 5.178 0.382 4.230 0.987 0.487 0.574 0.547 0.530 . 5.120 4.150 2.514 0.218 -0.120 0.995 0.991 0.965 167 . . . . GPR179 215 0 266 56 0.173913043478261 TRUE NA ENSG00000181409.14 . BCM GRCh38.p13 chr17 81122398 81122398 + G G A Missense_Mutation SNP ENST00000326724.9 exon11 c.C1538T p.P513L exonic ENSG00000181409.14 . nonsynonymous SNV ENSG00000181409.14:ENST00000326724.9:exon11:c.C1538T:p.P513L 17q25.3 C3L-01689 . . . . . . . . . 8.20 T D B B N D L D D 0.110 T T D 0.122 0.339 0.516 0.193 D T T T D T 1.741 17.310 0.977 D N -0.130 2.082 -0.165 1.872 1.000 0.583 0.547 0.504 0.621 . 4.260 3.280 3.644 1.083 0.583 1.000 0.060 0.101 . . . . . AATK 134 0 261 87 0.25 TRUE NA ENSG00000105641.4 . BCM GRCh38.p13 chr19 17881982 17881982 + G G C Missense_Mutation SNP ENST00000222248.4 exon9 c.G1081C p.A361P exonic ENSG00000105641.4 . nonsynonymous SNV ENSG00000105641.4:ENST00000222248.4:exon9:c.G1081C:p.A361P 19p13.11 C3L-01689 . . . . . . . . . 18.20 D D D D D D M D D 0.934 D D D 0.895 0.843 0.995 0.509 T T D D D D 3.742 25.600 0.998 D D 0.702 7.147 0.553 5.684 1.000 0.646 0.547 0.645 0.613 . 4.360 4.360 4.218 1.065 0.656 1.000 0.898 0.605 940 . . . . SLC5A5 624 0 945 167 0.150179856115108 TRUE TRUE ENSG00000105388.16 . BCM GRCh38.p13 chr19 41721011 41721011 + C C T Missense_Mutation SNP ENST00000221992.11 exon8 c.C1861T p.P621S exonic ENSG00000105388.16 . nonsynonymous SNV ENSG00000105388.16:ENST00000221992.11:exon8:c.C1861T:p.P621S 19q13.2 C3L-01689 . . . . . . . . . 2.16 T D . . . N . T N 0.404 T T T 0.109 0.734 0.571 0.782 T T T T T D 2.457 22.300 0.996 N N 0.075 2.788 -0.155 1.897 0.000 0.487 0.590 0.574 0.542 . 2.170 2.170 2.896 0.876 0.469 0.971 0.304 0.021 819 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . CEACAM5 525 0 694 187 0.212258796821793 TRUE TRUE ENSG00000278318.5 . BCM GRCh38.p13 chr19 44428745 44428745 + G G A Missense_Mutation SNP ENST00000614049.5 exon6 c.C2036T p.T679M exonic ENSG00000278318.5 . nonsynonymous SNV ENSG00000278318.5:ENST00000614049.5:exon6:c.C2036T:p.T679M 19q13.31 C3L-01689 8.277e-06 0 0 0 0 1.498e-05 0 0 rs754516445 4.12 . D . . . D . . . 0.194 T T T 0.073 0.294 0.620 . T . T T D T 2.860 23.100 0.999 D N 0.233 3.453 0.052 2.546 0.730 0.638 0.588 0.653 0.655 . 3.820 2.750 0.865 1.088 0.610 0.577 0.133 0.789 912 Zinc_finger_C2H2-type . . ID=COSV52159418;OCCURENCE=4(oesophagus),1(large_intestine),1(central_nervous_system),1(pancreas),1(endometrium) ZNF229 327 1 379 102 0.212058212058212 TRUE TRUE ENSG00000133265.11 . BCM GRCh38.p13 chr19 55277749 55277749 + G G C Missense_Mutation SNP ENST00000433386.7 exon3 c.C308G p.P103R exonic ENSG00000133265.11 . nonsynonymous SNV ENSG00000133265.11:ENST00000433386.7:exon3:c.C308G:p.P103R 19q13.42 C3L-01689 . . . . . . . . . 2.16 T D . . N N . T N 0.581 T T T 0.079 . 0.491 0.443 T T T T T T 3.103 23.600 0.998 D . 0.070 2.771 0.138 2.897 1.000 0.745 0.686 0.732 0.714 . 4.530 4.530 2.745 1.176 0.676 0.573 0.701 0.836 988 Nucleotide_exchange_factor_Fes1 . . . HSPBP1 150 0 220 45 0.169811320754717 TRUE TRUE ENSG00000173480.11 . BCM GRCh38.p13 chr19 57909397 57909397 + G G A Missense_Mutation SNP ENST00000312026.6 exon3 c.C881T p.T294I exonic ENSG00000173480.11 . nonsynonymous SNV ENSG00000173480.11:ENST00000312026.6:exon3:c.C881T:p.T294I 19q13.43 C3L-01689 . . . . . . . . . 3.19 D D P B . N L T N 0.101 T T T 0.044 0.481 0.316 . T T T T D T 0.044 1.633 0.994 N N -0.939 0.473 -1.180 0.300 0.022 0.707 0.725 0.702 0.714 . 1.690 -3.380 -0.111 -2.125 -1.692 0.000 0.000 0.000 982 Zinc_finger_C2H2-type . . . ZNF417 450 0 470 115 0.196581196581197 NA TRUE ENSG00000078814.17 . BCM GRCh38.p13 chr20 34978030 34978030 + G G A Missense_Mutation SNP ENST00000618182.6 exon2 c.G148A p.E50K exonic ENSG00000078814.17 . nonsynonymous SNV ENSG00000078814.17:ENST00000618182.6:exon2:c.G148A:p.E50K 20q11.22 C3L-01689 . . . . . . . . . 7.16 T T . . N D . D N 0.456 T T D 0.338 . 0.812 0.615 T . T T D D 2.859 23.100 0.999 D D 0.229 3.432 0.354 4.050 1.000 0.554 0.588 0.602 0.586 . 4.980 4.980 5.745 1.172 0.672 1.000 0.992 0.994 625 . . . . MYH7B 342 1 483 111 0.186868686868687 TRUE TRUE ENSG00000026559.14 . BCM GRCh38.p13 chr20 51004362 51004362 + C C T Missense_Mutation SNP ENST00000371571.5 exon3 c.G1219A p.E407K exonic ENSG00000026559.14 . nonsynonymous SNV ENSG00000026559.14:ENST00000371571.5:exon3:c.G1219A:p.E407K 20q13.13 C3L-01689 . . . . . . . . . 8.20 T T D P N D N T N 0.524 T T D 0.225 0.502 0.742 2.611 D T T T D D 3.382 24.400 0.995 D D 0.359 4.100 0.427 4.557 1.000 0.718 0.590 0.571 0.586 . 5.490 4.550 7.860 1.022 0.596 1.000 1.000 1.000 846 Ion_transport_domain . . . KCNG1 176 0 313 52 0.142465753424658 TRUE TRUE ENSG00000026559.14 . BCM GRCh38.p13 chr20 51010206 51010206 + G G A Missense_Mutation SNP ENST00000371571.5 exon2 c.C133T p.R45W exonic ENSG00000026559.14 . nonsynonymous SNV ENSG00000026559.14:ENST00000371571.5:exon2:c.C133T:p.R45W 20q13.13 C3L-01689 . . . . . . . . . 14.20 T D D P N D L D D 0.213 D D D 0.456 0.479 0.984 1.963 T T D D D D 3.330 24.200 0.998 D D 0.292 3.737 0.305 3.748 0.090 0.646 0.590 0.645 0.542 . 6.000 3.860 2.332 1.097 0.586 1.000 0.985 0.753 852 . . . . KCNG1 123 0 188 11 0.0552763819095477 TRUE TRUE ENSG00000077942.19 . BCM GRCh38.p13 chr22 45531286 45531286 + A A G Missense_Mutation SNP ENST00000327858.11 exon5 c.A506G p.E169G exonic ENSG00000077942.19 . nonsynonymous SNV ENSG00000077942.19:ENST00000327858.11:exon5:c.A506G:p.E169G 22q13.31 C3L-01689 . . . . . . . . . 6.20 T D P B N N M D N 0.302 T T D 0.395 0.363 0.711 1.048 T T T T D T 2.847 23.100 0.994 D N -0.067 2.281 -0.027 2.270 1.000 0.745 0.590 0.732 0.568 . 4.970 3.870 0.890 0.312 0.756 1.000 0.221 0.136 917 . . . . FBLN1 526 0 667 42 0.0592383638928068 TRUE TRUE ENSG00000183337.17 . BCM GRCh38.p13 chrX 40052396 40052396 + G G A Nonsense_Mutation SNP ENST00000378444.9 exon15 c.C4981T p.R1661X exonic ENSG00000183337.17 . stopgain ENSG00000183337.17:ENST00000378444.9:exon15:c.C4981T:p.R1661X Xp11.4 C3L-01689 . . . . . . . . . 5.5 . . . . . D . . . 0.941 . . . . . . . . . D D D . 7.202 37 0.997 D . . . . . 1.000 . . . . . 5.500 4.620 1.984 1.175 0.676 0.980 0.904 0.969 912 BCL-6_corepressor,_PCGF1_binding_domain . . ID=COSV60702852;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) BCOR 120 0 161 25 0.134408602150538 TRUE TRUE ENSG00000182872.16 . BCM GRCh38.p13 chrX 47185737 47185737 + C C T Nonsense_Mutation SNP ENST00000377604.8 exon21 c.C2377T p.R793X exonic ENSG00000182872.16 . stopgain ENSG00000182872.16:ENST00000377604.8:exon21:c.C2377T:p.R793X Xp11.3 C3L-01689 . . . . . . . . . 5.5 . . . . D A . . . 0.910 . . . . . . . . . D D . . 6.366 35 0.997 D . . . . . 0.999 . . . . . 5.130 4.210 0.668 1.022 0.596 0.243 1.000 1.000 410 . . . ID=COSV61307739;OCCURENCE=1(ovary),2(pancreas) RBM10 397 0 411 191 0.317275747508306 TRUE TRUE ENSG00000112685.14 . BCM GRCh38.p13 chr6 564931 564931 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000112685.14 ENST00000230449.9:exon14:c.1444-2A>T . . 6p25.3 C3L-01689 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.989 35 0.995 D . 1.141 19.539 1.000 18.853 1.000 0.106 0.097 0.126 0.110 0.968 5.700 5.700 5.571 1.138 0.665 1.000 1.000 0.999 888 . . . . EXOC2 185 1 222 19 0.0788381742738589 TRUE TRUE ENSG00000164402.14 . BCM GRCh38.p13 chr5 132761481 132761481 + G G A Silent SNP ENST00000378719.7 exon7 c.C939T p.S313S exonic ENSG00000164402.14 . synonymous SNV ENSG00000164402.14:ENST00000378719.7:exon7:c.C939T:p.S313S 5q31.1 C3L-01689 3.342e-05 0 0 0 0 6.023e-05 0 0 rs370048462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEPTIN8 124 0 175 43 0.197247706422018 TRUE NA ENSG00000154237.13 . BCM GRCh38.p13 chr15 101046063 101046063 + A A C Silent SNP ENST00000388948.8 exon21 c.A3046C p.R1016R exonic ENSG00000154237.13 . synonymous SNV ENSG00000154237.13:ENST00000388948.8:exon21:c.A3046C:p.R1016R 15q26.3 C3L-01689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRK1 388 0 529 104 0.164296998420221 TRUE TRUE ENSG00000153779.11 . BCM GRCh38.p13 chrX 89922148 89922148 + G G A Silent SNP ENST00000283891.6 exon2 c.G63A p.A21A exonic ENSG00000153779.11 . synonymous SNV ENSG00000153779.11:ENST00000283891.6:exon2:c.G63A:p.A21A Xq21.31 C3L-01689 0.0001 0.0010 0 0 0 0 0.0016 0 rs370716063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52214586;OCCURENCE=1(lung),1(endometrium) TGIF2LX 282 0 338 155 0.314401622718053 NA TRUE ENSG00000073111.14 . BCM GRCh38.p13 chr3 127610821 127610821 + G G A Intron SNP NA NA NA NA intronic ENSG00000073111.14 . . . 3q21.3 C3L-01689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MCM2 446 1 654 126 0.161538461538462 TRUE TRUE ENSG00000165688.12 . BCM GRCh38.p13 chr9 136419178 136419178 + G G T Intron SNP NA NA NA NA intronic ENSG00000165688.12 . . . 9q34.3 C3L-01689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PMPCA 165 0 288 66 0.186440677966102 TRUE NA ENSG00000166408.4 . BCM GRCh38.p13 chr11 7773061 7773061 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000166408.4 . . . 11p15.4 C3L-01689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5P1P 248 0 321 25 0.0722543352601156 TRUE NA ENSG00000177359.20 . BCM GRCh38.p13 chr12 31206136 31206136 + A A G IGR SNP NA NA NA NA intergenic ENSG00000177359.20;ENSG00000270766.1 dist=4901;dist=38304 . . 12p11.21 C3L-01689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC024940.2 212 0 325 18 0.0524781341107872 TRUE NA ENSG00000000457.14 . BCM GRCh38.p13 chr1 169868991 169868991 + A A G Missense_Mutation SNP ENST00000367772.8 exon7 c.T674C p.L225S exonic ENSG00000000457.14 . nonsynonymous SNV ENSG00000000457.14:ENST00000367772.8:exon7:c.T674C:p.L225S 1q24.2 C3L-04027 . . . . . . . . . 16.20 D D D D D D M T D 0.907 D D D 0.764 0.804 0.755 0.880 T T D D D T 4.095 27.700 0.999 D D 0.768 8.180 0.749 8.778 0.981 0.707 0.725 0.576 0.636 . 5.800 5.800 6.544 1.312 0.756 1.000 0.995 0.998 548 Protein_kinase_domain . . . SCYL3 209 0 366 21 0.0542635658914729 TRUE NA ENSG00000211626.2 . BCM GRCh38.p13 chr2 90070214 90070214 + C C A Nonsense_Mutation SNP ENST00000390271.2 exon2 c.C321A p.Y107X exonic ENSG00000211626.2 . stopgain ENSG00000211626.2:ENST00000390271.2:exon2:c.C321A:p.Y107X 2p11.2 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGKV6D-41 231 0 319 20 0.0589970501474926 TRUE TRUE ENSG00000074047.21 . BCM GRCh38.p13 chr2 120975086 120975086 + G G A Missense_Mutation SNP ENST00000452319.5 exon9 c.G1345A p.D449N exonic ENSG00000074047.21 . nonsynonymous SNV ENSG00000074047.21:ENST00000452319.5:exon9:c.G1345A:p.D449N 2q14.2 C3L-04027 0.0001 0 0 0 0 0.0003 0 0 rs13427953 13.20 D D D D D D M T D 0.660 T T T 0.254 . 0.716 1.045 T D T T D D 4.275 29.400 0.999 D D 0.656 6.551 0.704 7.825 1.000 0.635 0.574 0.644 0.613 . 5.200 5.200 10.003 1.176 0.676 1.000 0.815 0.959 692 Zinc_finger_C2H2-type . . ID=COSV58051466;OCCURENCE=3(skin),1(upper_aerodigestive_tract) GLI2 242 0 450 39 0.0797546012269939 TRUE TRUE ENSG00000012223.13 . BCM GRCh38.p13 chr3 46448997 46448997 + G G A Missense_Mutation SNP ENST00000231751.9 exon9 c.C1078T p.R360W exonic ENSG00000012223.13 . nonsynonymous SNV ENSG00000012223.13:ENST00000231751.9:exon9:c.C1078T:p.R360W 3p21.31 C3L-04027 0.0003 0 0.0004 0.0001 0 0.0004 0 6.385e-05 rs144305401 8.20 D D D D N N M T D 0.455 T T T 0.135 . 0.541 0.353 T D T T T D 1.902 18.510 0.998 N N -0.193 1.895 -0.459 1.269 0.993 0.554 0.563 0.602 0.542 . 3.670 1.820 -0.240 0.227 0.676 0.000 0.002 0.019 422 Transferrin-like_domain . . ID=COSV51610253;OCCURENCE=1(pancreas) LTF 141 0 316 31 0.0893371757925072 TRUE TRUE ENSG00000168386.18 . BCM GRCh38.p13 chr3 99850112 99850112 + A A C Missense_Mutation SNP ENST00000354552.7 exon5 c.T1564G p.S522A exonic ENSG00000168386.18 . nonsynonymous SNV ENSG00000168386.18:ENST00000354552.7:exon5:c.T1564G:p.S522A 3q12.1 C3L-04027 0.0006 0.0022 0.0005 0.0002 0 0.0001 0 0.0022 rs201193835 0.20 T T B B N N N T N 0.112 T T T 0.109 . 0.061 0.053 T T T T T T -0.573 0.083 0.680 N N -2.098 0.006 -2.093 0.008 1.000 0.707 0.588 0.547 0.714 . 5.650 -11.300 -0.206 -2.560 -1.432 0.603 0.008 0.414 445 . . . . FILIP1L 118 0 244 15 0.0579150579150579 TRUE NA ENSG00000138246.17 . BCM GRCh38.p13 chr3 132503260 132503260 + G G A Missense_Mutation SNP ENST00000260818.11 exon41 c.G4763A p.R1588H exonic ENSG00000138246.17 . nonsynonymous SNV ENSG00000138246.17:ENST00000260818.11:exon41:c.G4763A:p.R1588H 3q22.1 C3L-04027 7.418e-05 0.0006 8.651e-05 0 0 2.998e-05 0 0 rs145101163 12.20 D D D D D D M T D 0.688 T T T 0.308 . 0.330 0.410 T T T T D D 3.803 25.800 0.999 D D 0.843 9.672 0.822 10.803 1.000 0.732 0.725 0.744 0.714 . 5.500 5.500 9.441 1.176 0.676 1.000 0.998 0.987 824 . . . ID=COSV53454491;OCCURENCE=1(endometrium) DNAJC13 202 0 341 21 0.0580110497237569 TRUE TRUE ENSG00000124279.12 . BCM GRCh38.p13 chr5 7866727 7866727 + G G A Missense_Mutation SNP ENST00000264669.10 exon2 c.C1357T p.H453Y exonic ENSG00000124279.12 . nonsynonymous SNV ENSG00000124279.12:ENST00000264669.10:exon2:c.C1357T:p.H453Y 5p15.31 C3L-04027 . . . . . . . . . 8.20 T T P P D D M T N 0.763 T T T 0.290 0.694 0.703 0.775 T T D D D T 3.446 24.500 0.997 D D 0.400 4.344 0.412 4.447 1.000 0.651 0.659 0.659 0.684 . 4.950 4.950 5.983 1.176 0.676 1.000 0.986 0.987 735 FAST_kinase_leucine-rich . . . FASTKD3 102 0 166 12 0.0674157303370786 TRUE TRUE ENSG00000178394.5 . BCM GRCh38.p13 chr5 63961040 63961040 + C C T Missense_Mutation SNP ENST00000323865.5 exon1 c.G680A p.R227H exonic ENSG00000178394.5 . nonsynonymous SNV ENSG00000178394.5:ENST00000323865.5:exon1:c.G680A:p.R227H 5q12.3 C3L-04027 . . . . . . . . . 15.20 D D D D D D M T D 0.734 T T D 0.296 0.624 0.650 1.826 T D D T D D 4.009 27.000 0.999 D D 0.755 7.959 0.721 8.162 1.000 0.726 0.547 0.594 0.530 . 5.700 5.700 3.383 1.026 0.599 1.000 0.939 0.929 828 GPCR,_rhodopsin-like,_7TM . . ID=COSV60500218;OCCURENCE=1(large_intestine),1(ovary),1(stomach),1(endometrium) HTR1A 682 0 1057 74 0.0654288240495137 TRUE TRUE ENSG00000164197.12 . BCM GRCh38.p13 chr5 64325233 64325233 + A A C Missense_Mutation SNP ENST00000389100.9 exon6 c.A1275C p.E425D exonic ENSG00000164197.12 . nonsynonymous SNV ENSG00000164197.12:ENST00000389100.9:exon6:c.A1275C:p.E425D 5q12.3 C3L-04027 . . . . . . . . . 3.20 T T P P N N M T N 0.127 T T T 0.107 0.319 0.757 0.032 T T T T D T 1.448 15.400 0.995 D N -0.112 2.137 -0.146 1.921 0.000 0.554 0.574 0.602 0.621 . 5.350 -0.965 0.150 0.316 0.743 0.954 1.000 1.000 720 . . . ID=COSV66633903;OCCURENCE=1(oesophagus),2(stomach) RNF180 306 0 471 27 0.0542168674698795 TRUE TRUE ENSG00000145808.10 . BCM GRCh38.p13 chr5 129641937 129641937 + G G A Missense_Mutation SNP ENST00000274487.9 exon11 c.G1849A p.G617R exonic ENSG00000145808.10 . nonsynonymous SNV ENSG00000145808.10:ENST00000274487.9:exon11:c.G1849A:p.G617R 5q23.3 C3L-04027 . . . . . . . . . 16.19 D . D D D D H T N . D D D 0.687 0.573 0.582 0.770 T D D D D D 4.427 31 0.999 D D 0.829 9.385 0.727 8.289 0.972 0.706 0.574 0.710 0.564 . 4.020 4.020 6.903 1.176 0.618 1.000 1.000 0.998 629 ADAM,_cysteine-rich . . . ADAMTS19 70 0 124 7 0.0534351145038168 TRUE NA ENSG00000112249.14 . BCM GRCh38.p13 chr6 100589761 100589761 + C C T Missense_Mutation SNP ENST00000369162.7 exon36 c.G5423A p.R1808H exonic ENSG00000112249.14 . nonsynonymous SNV ENSG00000112249.14:ENST00000369162.7:exon36:c.G5423A:p.R1808H 6q16.3 C3L-04027 5.782e-05 0 0.0003 0 0 6.008e-05 0 0 rs371661297 6.20 T T D P D D L T N 0.657 T T T 0.145 0.486 0.525 0.682 T T T T T D 3.438 24.500 0.998 D D 0.589 5.815 0.595 6.167 1.000 0.706 0.725 0.659 0.613 . 5.220 5.220 4.298 1.026 0.549 1.000 0.999 0.995 928 . . . . ASCC3 390 0 527 41 0.0721830985915493 TRUE NA ENSG00000154997.9 . BCM GRCh38.p13 chr7 55846517 55846517 + C C A Missense_Mutation SNP ENST00000388975.4 exon3 c.G175T p.G59W exonic ENSG00000154997.9 . nonsynonymous SNV ENSG00000154997.9:ENST00000388975.4:exon3:c.G175T:p.G59W 7p11.2 C3L-04027 . . . . . . . . . 17.20 D D D D N D H D D 0.971 D D D 0.831 0.961 0.956 0.470 T T D D D D 5.310 33 0.993 D D 0.922 11.621 0.758 8.982 1.000 0.554 0.574 0.547 0.621 . 4.400 4.400 6.670 0.634 0.587 1.000 0.886 0.909 835 Septin-type_guanine_nucleotide-binding_(G)_domain . . ID=COSV66425881;OCCURENCE=1(large_intestine) SEPTIN14 82 0 181 14 0.0717948717948718 NA TRUE ENSG00000187391.21 . BCM GRCh38.p13 chr7 79453128 79453128 + G G C Missense_Mutation SNP ENST00000354212.9 exon1 c.C193G p.L65V exonic ENSG00000187391.21 . nonsynonymous SNV ENSG00000187391.21:ENST00000354212.9:exon1:c.C193G:p.L65V 7q21.11 C3L-04027 . . . . . . . . . 7.19 T T D D . D L T N 0.666 T T T 0.104 0.441 0.790 1.959 T T T T D D 3.306 24.100 0.957 D D 0.335 3.966 0.429 4.568 1.000 0.437 0.590 0.607 0.250 . 5.390 5.390 5.605 1.088 0.617 1.000 0.999 0.997 948 PDZ_domain . . . MAGI2 142 0 316 21 0.0623145400593472 TRUE TRUE ENSG00000147485.13 . BCM GRCh38.p13 chr8 51320784 51320784 + C C A Missense_Mutation SNP ENST00000356297.5 exon22 c.G4260T p.E1420D exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon22:c.G4260T:p.E1420D 8q11.22 C3L-04027 . . . . . . . . . 2.19 T T B B . D N T N 0.138 T T T 0.084 0.359 0.390 0.163 T T T T T T 3.443 24.500 0.787 D N 0.023 2.596 -0.036 2.239 0.001 0.554 0.574 0.618 0.564 . 4.370 4.370 1.628 0.789 0.599 1.000 0.021 0.026 900 VWFC_domain . . . PXDNL 215 0 350 32 0.0837696335078534 TRUE TRUE ENSG00000182752.10 . BCM GRCh38.p13 chr9 116235355 116235355 + A A C Missense_Mutation SNP ENST00000328252.4 exon7 c.A2450C p.K817T exonic ENSG00000182752.10 . nonsynonymous SNV ENSG00000182752.10:ENST00000328252.4:exon7:c.A2450C:p.K817T 9q33.1 C3L-04027 . . . . . . . . . 8.20 T T D P D D M T N 0.222 T T T 0.191 0.562 0.110 0.714 T T T T D D 3.077 23.600 0.994 D D 0.518 5.179 0.583 6.022 1.000 0.487 0.563 0.574 0.564 . 6.040 6.040 5.753 1.312 0.756 1.000 0.999 0.990 448 . . . . PAPPA 289 0 421 31 0.0685840707964602 TRUE TRUE ENSG00000136854.22 . BCM GRCh38.p13 chr9 127682465 127682465 + G G A Missense_Mutation SNP ENST00000373299.5 exon18 c.G1607A p.R536H exonic ENSG00000136854.22 . nonsynonymous SNV ENSG00000136854.22:ENST00000373299.5:exon18:c.G1607A:p.R536H 9q34.11 C3L-04027 8.259e-06 0 0 0 0 1.504e-05 0 0 rs749244650 19.20 D D D D D D M T D 0.961 D D D 0.864 0.617 0.783 2.597 D D D D D D 4.568 32 1.000 D D 1.082 16.781 1.007 19.298 1.000 0.707 0.610 0.725 0.714 . 5.620 5.620 9.859 1.176 0.676 1.000 0.999 0.996 305 . . . . STXBP1 523 2 931 61 0.061491935483871 TRUE NA ENSG00000172538.7 . BCM GRCh38.p13 chr10 49132002 49132002 + C C A Nonsense_Mutation SNP ENST00000311787.6 exon2 c.G463T p.E155X exonic ENSG00000172538.7 . stopgain ENSG00000172538.7:ENST00000311787.6:exon2:c.G463T:p.E155X 10q11.23 C3L-04027 . . . . . . . . . 3.6 . . . . N D . . . 0.063 . . . . . . . . . D D . . 6.538 36 0.997 N N 0.565 5.582 0.363 4.106 1.000 0.497 0.547 0.547 0.542 . 5.630 4.730 0.634 0.019 -0.197 0.434 0.974 0.777 . . . . . FAM170B 380 0 665 54 0.0751043115438109 TRUE TRUE ENSG00000225830.14 . BCM GRCh38.p13 chr10 49482809 49482809 + G G A Nonsense_Mutation SNP ENST00000355832.10 exon10 c.C2047T p.R683X exonic ENSG00000225830.14 . stopgain ENSG00000225830.14:ENST00000355832.10:exon10:c.C2047T:p.R683X 10q11.23 C3L-04027 3.296e-05 0 0 0.0001 0 4.497e-05 0 0 rs121917904 4.5 . . . . . A . . . 0.963 . . . . . . . . . D D . . 8.420 43 0.998 D N 0.925 11.728 0.807 10.323 1.000 0.707 0.654 0.653 0.714 . 5.680 4.710 5.688 1.176 0.676 1.000 1.000 0.984 828 Helicase_superfamily_1/2,_ATP-binding_domain;SNF2-related,_N-terminal_domain . . . ERCC6 338 0 566 38 0.0629139072847682 TRUE NA ENSG00000134812.8 . BCM GRCh38.p13 chr11 59831740 59831740 + G G A Missense_Mutation SNP ENST00000257248.3 exon8 c.C1130T p.A377V exonic ENSG00000134812.8 . nonsynonymous SNV ENSG00000134812.8:ENST00000257248.3:exon8:c.C1130T:p.A377V 11q12.1 C3L-04027 9.062e-05 9.61e-05 0.0002 0.0001 0 0.0001 0 0 rs370902375 0.16 T T . . N N . T N 0.515 T T T 0.064 . 0.376 0.128 T . T T T T 2.541 22.500 0.921 N N 0.061 2.736 0.121 2.822 0.000 0.487 0.574 0.574 0.564 . 5.410 4.410 1.707 1.158 0.654 0.472 0.925 0.898 799 Domain_of_unknown_function_DUF4430 . . ID=COSV57238166;OCCURENCE=1(pancreas),1(upper_aerodigestive_tract) CBLIF 409 1 674 62 0.0842391304347826 TRUE TRUE ENSG00000162144.10 . BCM GRCh38.p13 chr11 61353957 61353957 + C C T Missense_Mutation SNP ENST00000294072.9 exon4 c.G220A p.G74R exonic ENSG00000162144.10 . nonsynonymous SNV ENSG00000162144.10:ENST00000294072.9:exon4:c.G220A:p.G74R 11q12.2 C3L-04027 . . . . . . . . . 8.20 T T D D N D M T N 0.298 T T T 0.150 0.385 0.439 1.324 T T T T D D 3.035 23.500 0.999 D D 0.587 5.799 0.586 6.048 1.000 0.707 0.686 0.644 0.714 . 5.780 5.780 3.033 1.025 0.599 0.906 0.984 0.923 756 Cytochrome_b561/ferric_reductase_transmembrane . . . CYB561A3 362 0 615 42 0.0639269406392694 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-04027 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 313 0 604 136 0.183783783783784 TRUE TRUE ENSG00000173064.13 . BCM GRCh38.p13 chr12 112283262 112283262 + C C T Missense_Mutation SNP ENST00000377560.9 exon8 c.G1376A p.R459H exonic ENSG00000173064.13 . nonsynonymous SNV ENSG00000173064.13:ENST00000377560.9:exon8:c.G1376A:p.R459H 12q24.13 C3L-04027 6.843e-05 0 0.0003 0.0001 0 4.614e-05 0 6.427e-05 rs544019388 8.16 D D . . . D . T N 0.775 T T D 0.316 . 0.139 1.267 T T T D T D 3.891 26.300 0.999 D D 0.648 6.449 0.702 7.794 1.000 0.651 0.654 0.659 0.684 . 5.570 5.570 7.539 1.026 0.599 1.000 1.000 0.992 69 . . . . HECTD4 182 0 269 15 0.0528169014084507 TRUE NA ENSG00000197653.16 . BCM GRCh38.p13 chr12 123903025 123903025 + G G A Missense_Mutation SNP ENST00000638045.1 exon56 c.G9373A p.E3125K exonic ENSG00000197653.16 . nonsynonymous SNV ENSG00000197653.16:ENST00000638045.1:exon56:c.G9373A:p.E3125K 12q24.31 C3L-04027 4.418e-05 0 0 0 0 5.157e-05 0 9.489e-05 rs757406131 13.16 . . D P D D M . . . D D D 0.635 0.389 0.572 0.340 T T D D D D 3.159 23.800 0.999 D D 0.556 5.501 0.527 5.414 1.000 0.497 0.590 0.547 0.542 . 5.910 5.020 9.941 1.176 0.676 1.000 0.235 0.150 721 Dynein_heavy_chain,_coiled_coil_stalk . . . DNAH10 178 0 290 19 0.0614886731391586 TRUE NA ENSG00000133110.15 . BCM GRCh38.p13 chr13 37586796 37586796 + G G C Missense_Mutation SNP ENST00000379747.9 exon6 c.C739G p.L247V exonic ENSG00000133110.15 . nonsynonymous SNV ENSG00000133110.15:ENST00000379747.9:exon6:c.C739G:p.L247V 13q13.3 C3L-04027 . . . . . . . . . 18.20 D D D D D D M D N 0.337 D D D 0.706 0.601 0.947 0.245 T D D D D D 3.369 24.300 0.998 D D 0.758 8.019 0.705 7.849 1.000 0.554 0.574 0.618 0.621 . 5.560 5.560 3.013 1.155 0.676 1.000 0.699 0.971 476 FAS1_domain . . . POSTN 195 0 297 25 0.077639751552795 TRUE TRUE ENSG00000150893.11 . BCM GRCh38.p13 chr13 38856205 38856205 + G G C Missense_Mutation SNP ENST00000280481.9 exon12 c.G7005C p.E2335D exonic ENSG00000150893.11 . nonsynonymous SNV ENSG00000150893.11:ENST00000280481.9:exon12:c.G7005C:p.E2335D 13q13.3 C3L-04027 . . . . . . . . . 9.15 D D . . D D . T N 0.946 T T D 0.559 0.684 0.551 0.539 T . D D D . 2.848 23.100 0.998 D N 0.002 2.520 -0.136 1.948 0.114 0.706 0.624 0.710 0.564 . 5.790 1.080 0.466 -1.109 -0.682 0.998 0.982 0.986 934 . . . . FREM2 509 1 901 55 0.0575313807531381 TRUE TRUE ENSG00000100505.13 . BCM GRCh38.p13 chr14 51010485 51010485 + C C T Missense_Mutation SNP ENST00000298355.7 exon4 c.G1051A p.D351N exonic ENSG00000100505.13 . nonsynonymous SNV ENSG00000100505.13:ENST00000298355.7:exon4:c.G1051A:p.D351N 14q22.1 C3L-04027 . . . . . . . . . 14.20 D D D D D D L T D 0.706 T D D 0.275 0.627 0.681 0.897 D T T T D D 3.511 24.700 0.999 D D 0.770 8.218 0.795 9.981 1.000 0.638 0.590 0.653 0.530 . 5.870 5.870 7.905 1.026 0.599 1.000 0.994 0.986 438 B-box,_C-terminal . . . TRIM9 201 0 392 27 0.0644391408114559 TRUE TRUE ENSG00000186469.8 . BCM GRCh38.p13 chr14 51950754 51950754 + G G A Missense_Mutation SNP ENST00000335281.8 exon2 c.G76A p.D26N exonic ENSG00000186469.8 . nonsynonymous SNV ENSG00000186469.8:ENST00000335281.8:exon2:c.G76A:p.D26N 14q22.1 C3L-04027 2.511e-05 0 0 0 0 0 0 0.0002 rs771997787 12.19 D D D B D D . T D 0.795 T T D 0.147 0.415 0.390 2.040 D T T T D D 3.102 23.600 0.999 D D 0.516 5.162 0.574 5.913 1.000 0.719 0.723 0.725 0.530 . 5.030 5.030 9.346 1.176 0.671 1.000 0.986 0.996 896 G-protein_gamma-like_domain . . . GNG2 66 0 133 14 0.0952380952380952 TRUE NA ENSG00000007376.8 . BCM GRCh38.p13 chr16 786374 786374 + C C T Missense_Mutation SNP ENST00000007264.7 exon6 c.G515A p.R172Q exonic ENSG00000007376.8 . nonsynonymous SNV ENSG00000007376.8:ENST00000007264.7:exon6:c.G515A:p.R172Q 16p13.3 C3L-04027 8.976e-06 0 8.868e-05 0 0 0 0 0 rs761438615 16.20 D D D D D D H T D 0.955 D T D 0.652 0.919 0.643 0.485 T T D D D D 3.984 26.900 0.999 D D 0.845 9.717 0.669 7.203 1.000 0.707 0.702 0.723 0.714 . 3.880 3.880 7.595 1.022 0.596 1.000 0.961 0.363 745 Pseudouridine_synthase,_RsuA/RluB/C/D/E/F . . ID=COSV50101217;OCCURENCE=1(large_intestine) RPUSD1 98 0 166 12 0.0674157303370786 TRUE TRUE ENSG00000168140.5 . BCM GRCh38.p13 chr16 4381565 4381565 + C C T Nonsense_Mutation SNP ENST00000304735.4 exon2 c.C688T p.R230X exonic ENSG00000168140.5 . stopgain ENSG00000168140.5:ENST00000304735.4:exon2:c.C688T:p.R230X 16p13.3 C3L-04027 1.631e-05 0 0 0 0 2.948e-05 0 0 rs766706462 3.6 . . . . N D . . . 0.042 . . . . . . . . . D D . . 6.905 36 0.996 N N 0.374 4.186 0.120 2.818 1.000 0.696 0.380 0.723 0.492 . 5.690 3.610 0.470 1.022 0.596 0.069 0.569 0.320 580 . . . . VASN 328 0 578 44 0.0707395498392283 TRUE NA ENSG00000183921.7 . BCM GRCh38.p13 chr16 22181550 22181550 + G G A Missense_Mutation SNP ENST00000602312.2 exon8 c.G704A p.R235Q exonic ENSG00000183921.7 . nonsynonymous SNV ENSG00000183921.7:ENST00000602312.2:exon8:c.G704A:p.R235Q 16p12.2 C3L-04027 . . . . . . . . rs1027761752 3.10 . T . . N . . . . 0.144 T T . 0.343 . 0.178 . . T T T D . 3.369 24.300 0.999 D D 0.210 3.348 0.298 3.705 0.999 0.554 0.588 0.602 0.542 . 5.440 4.290 3.906 0.225 0.618 1.000 0.993 0.993 527 3-beta_hydroxysteroid_dehydrogenase/isomerase . . . SDR42E2 255 1 497 37 0.0692883895131086 TRUE NA ENSG00000121281.13 . BCM GRCh38.p13 chr16 50293442 50293442 + G G A Missense_Mutation SNP ENST00000673801.1 exon6 c.G776A p.R259H exonic ENSG00000121281.13 . nonsynonymous SNV ENSG00000121281.13:ENST00000673801.1:exon6:c.G776A:p.R259H 16q12.1 C3L-04027 6.601e-05 0 0.0003 0.0001 0 3.004e-05 0 0.0001 rs545059286 4.20 T T B B U D L D N 0.229 T T D 0.207 . 0.829 0.575 T T T T T T 1.776 17.560 0.994 D N -0.264 1.705 -0.167 1.867 1.000 0.672 0.702 0.645 0.655 . 5.180 4.160 1.937 0.224 0.676 0.955 0.059 0.017 767 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . ID=COSV54271135;OCCURENCE=1(oesophagus),1(large_intestine),1(central_nervous_system) ADCY7 252 0 511 32 0.0589318600368324 TRUE TRUE ENSG00000159387.8 . BCM GRCh38.p13 chr16 55327368 55327368 + C C T Missense_Mutation SNP ENST00000290552.8 exon3 c.C376T p.P126S exonic ENSG00000159387.8 . nonsynonymous SNV ENSG00000159387.8:ENST00000290552.8:exon3:c.C376T:p.P126S 16q12.2 C3L-04027 . . . . . . . . . 9.20 D D B B N D L D D 0.275 T D D 0.206 0.359 0.858 0.103 T T T T T D 1.311 14.460 0.980 D N -0.619 0.953 -0.586 1.068 0.305 0.598 0.590 0.596 0.530 . 5.490 -0.191 0.752 -0.405 -0.202 0.223 0.931 0.984 884 . . . ID=COSV51862486;OCCURENCE=1(skin) IRX6 253 0 457 31 0.0635245901639344 TRUE TRUE ENSG00000159398.16 . BCM GRCh38.p13 chr16 55846602 55846602 + C C T Missense_Mutation SNP ENST00000290567.14 exon13 c.G1577A p.S526N exonic ENSG00000159398.16 . nonsynonymous SNV ENSG00000159398.16:ENST00000290567.14:exon13:c.G1577A:p.S526N 16q12.2 C3L-04027 . . . . . . . . . 2.20 T T P P N N M T N 0.140 T T D 0.101 0.354 0.081 0.217 T T T T T T 1.392 15.030 0.978 N N -0.310 1.590 -0.521 1.168 0.999 0.487 0.590 0.547 0.564 . 5.510 -0.144 0.150 1.018 0.599 0.001 0.014 0.112 929 Carboxylesterase,_type_B . . . CES5A 525 0 886 67 0.0703043022035677 TRUE TRUE ENSG00000225614.4 . BCM GRCh38.p13 chr16 88438454 88438454 + C C T Nonsense_Mutation SNP ENST00000565624.3 exon3 c.C10984T p.R3662X exonic ENSG00000225614.4 . stopgain ENSG00000225614.4:ENST00000565624.3:exon3:c.C10984T:p.R3662X 16q24.2 C3L-04027 . . . . . . . . . 3.5 . . . . . D . . . 0.472 . . . . . . . . . D D . . 7.434 38 0.979 N N -0.019 2.446 -0.380 1.408 0.817 0.646 0.588 0.645 0.700 . 4.650 1.430 0.600 -0.157 -0.694 0.000 0.000 0.000 . . . . . ZNF469 272 0 494 26 0.05 TRUE NA ENSG00000132535.21 . BCM GRCh38.p13 chr17 7196902 7196902 + C C T Missense_Mutation SNP ENST00000399506.9 exon9 c.G938A p.R313Q exonic ENSG00000132535.21 . nonsynonymous SNV ENSG00000132535.21:ENST00000399506.9:exon9:c.G938A:p.R313Q 17p13.1 C3L-04027 1.704e-05 0 0.0002 0 0 0 0 0 rs764739020 5.19 T T D D . D L T N 0.282 T T T 0.157 0.579 0.799 1.889 T T T T D D 3.203 23.900 0.999 N N 0.114 2.941 0.128 2.851 0.962 0.707 0.634 0.725 0.714 . 5.280 5.280 0.885 1.026 0.599 0.009 0.999 0.999 498 PDZ_domain . . ID=COSV57238233;OCCURENCE=3(large_intestine),1(endometrium) DLG4 410 1 676 57 0.077762619372442 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675085 7675085 + C C T Missense_Mutation SNP ENST00000269305.8 exon5 c.G527A p.C176Y exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.G527A:p.C176Y 17p13.1 C3L-04027 . . . . . . . . rs786202962 20.20 D D D D D D M D D 0.977 D D D 0.949 0.961 0.986 2.143 D D D D D D 4.061 27.400 0.997 D D 0.857 10.008 0.769 9.258 1.000 0.722 0.698 0.698 0.735 . 5.590 4.610 7.905 1.026 0.599 1.000 0.999 0.932 434 p53,_DNA-binding_domain . . ID=COSV52660760;OCCURENCE=1(salivary_gland),8(breast),9(liver),16(oesophagus),29(large_intestine),8(central_nervous_system),3(biliary_tract),7(ovary),2(bone),1(NS),19(haematopoietic_and_lymphoid_tissue),5(stomach),1(urinary_tract),3(pancreas),2(skin),15(lung),9(upper_aerodigestive_tract),1(thymus),5(endometrium) TP53 440 1 696 47 0.063257065948856 TRUE TRUE ENSG00000007171.18 . BCM GRCh38.p13 chr17 27765558 27765558 + C C T Missense_Mutation SNP ENST00000313735.11 exon20 c.G2405A p.R802H exonic ENSG00000007171.18 . nonsynonymous SNV ENSG00000007171.18:ENST00000313735.11:exon20:c.G2405A:p.R802H 17q11.2 C3L-04027 1.75e-05 0 0 0 0 0 0 0.0001 rs774982047 1.20 T T B B N N L T D 0.207 T T T 0.041 0.378 0.401 0.198 T T T T T T -0.023 1.197 0.974 N N -1.119 0.290 -1.171 0.308 0.000 0.447 0.563 0.547 0.613 . 5.190 -2.000 0.185 -2.551 -2.750 0.187 0.002 0.027 185 Sulfite_reductase_[NADPH]_flavoprotein_alpha-component-like,_FAD-binding;FAD-binding_domain,_ferredoxin_reductase-type . . ID=COSV58223772;OCCURENCE=2(breast) NOS2 119 1 211 13 0.0580357142857143 TRUE TRUE ENSG00000108375.12 . BCM GRCh38.p13 chr17 58358637 58358643 + TCCTGGG TCCTGGG - Frame_Shift_Del DEL ENST00000584437.5 exon8 c.1133_1139del p.S378Cfs*39 exonic ENSG00000108375.12;ENSG00000285897.1 . frameshift deletion ENSG00000108375.12:ENST00000584437.5:exon8:c.1133_1139del:p.S378Cfs*39,ENSG00000285897.1:ENST00000648873.1:exon8:c.1133_1139del:p.S378Cfs*39 17q22 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF43 56 0 83 16 0.161616161616162 TRUE TRUE ENSG00000171804.11 . BCM GRCh38.p13 chr19 37895101 37895101 + A A T Missense_Mutation SNP ENST00000447313.7 exon4 c.T602A p.I201N exonic ENSG00000171804.11 . nonsynonymous SNV ENSG00000171804.11:ENST00000447313.7:exon4:c.T602A:p.I201N 19q13.13 C3L-04027 . . . . . . . . . 11.18 D D D D N N . T D 0.781 D D D 0.593 0.655 0.432 . T . D T D T 3.559 24.900 0.957 D N 0.514 5.143 0.457 4.787 0.999 0.497 0.590 0.547 0.542 . 5.770 5.770 5.370 1.312 0.743 0.990 0.406 0.087 646 . . . . WDR87 367 0 601 39 0.0609375 TRUE TRUE ENSG00000203326.12 . BCM GRCh38.p13 chr19 53375873 53375873 + A A T Missense_Mutation SNP ENST00000474037.6 exon3 c.A119T p.N40I exonic ENSG00000203326.12 . nonsynonymous SNV ENSG00000203326.12:ENST00000474037.6:exon3:c.A119T:p.N40I 19q13.42 C3L-04027 . . . . . . . . . 5.14 D D . . . N . T D 0.684 T T T 0.141 0.565 0.328 3.229 . . T T D D 2.549 22.500 0.982 N N -0.529 1.121 -0.702 0.897 0.000 0.707 0.725 0.725 0.636 . 1.630 1.630 0.791 0.791 0.374 0.657 0.799 0.044 994 Krueppel-associated_box . . . ZNF525 336 0 537 35 0.0611888111888112 NA TRUE ENSG00000132622.11 . BCM GRCh38.p13 chr20 3749265 3749265 + G G A Missense_Mutation SNP ENST00000254963.7 exon9 c.G884A p.R295H exonic ENSG00000132622.11 . nonsynonymous SNV ENSG00000132622.11:ENST00000254963.7:exon9:c.G884A:p.R295H 20p13 C3L-04027 2.677e-05 0 9.228e-05 0.0002 0 0 0 0 rs763936271 9.20 T T D P D D M T N 0.737 T T D 0.189 0.517 0.789 2.024 D T T T T D 4.300 29.600 1.000 D D 0.731 7.570 0.743 8.635 1.000 0.677 0.588 0.673 0.655 . 5.570 5.570 6.506 1.176 0.676 1.000 0.995 0.998 798 . . . ID=COSV99422358;OCCURENCE=1(endometrium) HSPA12B 322 0 664 45 0.0634696755994358 TRUE NA ENSG00000078814.17 . BCM GRCh38.p13 chr20 34986904 34986904 + T T G Missense_Mutation SNP ENST00000618182.6 exon12 c.T1046G p.M349R exonic ENSG00000078814.17 . nonsynonymous SNV ENSG00000078814.17:ENST00000618182.6:exon12:c.T1046G:p.M349R 20q11.22 C3L-04027 . . . . . . . . . 4.16 D T . . N D . T N 0.480 T T D 0.086 . 0.396 0.265 T . T T T D 3.359 24.300 0.970 N N -0.560 1.062 -0.415 1.346 0.397 0.403 0.514 0.578 0.646 . 3.660 3.660 1.501 1.138 0.665 0.864 1.000 0.974 626 Myosin_head,_motor_domain . . . MYH7B 174 0 337 25 0.069060773480663 TRUE TRUE ENSG00000101438.4 . BCM GRCh38.p13 chr20 38728362 38728362 + C C T Missense_Mutation SNP ENST00000217420.2 exon2 c.C1301T p.T434M exonic ENSG00000101438.4 . nonsynonymous SNV ENSG00000101438.4:ENST00000217420.2:exon2:c.C1301T:p.T434M 20q11.23 C3L-04027 . . . . . . . . . 6.20 T T B B D D L T N 0.589 T T T 0.136 0.573 0.506 . T T T T D D 2.644 22.700 0.973 D D -0.012 2.467 0.138 2.896 1.000 0.598 0.627 0.378 0.639 . 4.610 4.610 3.930 1.022 0.596 1.000 1.000 0.994 926 Amino_acid_transporter,_transmembrane_domain . . ID=COSV54147145;OCCURENCE=1(lung),1(upper_aerodigestive_tract),1(small_intestine) SLC32A1 180 0 391 43 0.0990783410138249 TRUE TRUE ENSG00000149654.11 . BCM GRCh38.p13 chr20 46210323 46210323 + C C T Missense_Mutation SNP ENST00000537909.4 exon7 c.G1270A p.A424T exonic ENSG00000149654.11 . nonsynonymous SNV ENSG00000149654.11:ENST00000537909.4:exon7:c.G1270A:p.A424T 20q13.12 C3L-04027 . . . . . . . . . 6.20 T T B B D D N T N 0.312 T T D 0.056 0.427 0.518 . T T T T D D 2.483 22.400 0.978 D N -0.327 1.549 -0.153 1.902 0.999 0.515 0.590 0.604 0.563 . 3.960 3.960 1.500 0.959 0.513 0.981 1.000 0.999 510 Cadherin-like . . . CDH22 143 0 289 20 0.0647249190938511 TRUE NA ENSG00000092758.18 . BCM GRCh38.p13 chr20 62829655 62829655 + G G A Missense_Mutation SNP ENST00000649368.1 exon21 c.G1081A p.G361S exonic ENSG00000092758.18 . nonsynonymous SNV ENSG00000092758.18:ENST00000649368.1:exon21:c.G1081A:p.G361S 20q13.33 C3L-04027 6.835e-05 0 0 0.0005 0 4.067e-05 0 7.539e-05 rs745335790 19.20 D D D D D D H D D 0.934 D D D 0.969 0.818 0.923 0.420 D T D D D D 3.595 25.000 0.998 D D 0.829 9.368 0.672 7.256 1.000 0.696 0.547 0.723 0.568 . 4.720 4.720 5.437 1.079 0.672 1.000 0.096 0.062 867 . . . ID=COSV104645910;OCCURENCE=1(large_intestine) COL9A3 712 0 1227 93 0.0704545454545455 TRUE NA ENSG00000101161.8 . BCM GRCh38.p13 chr20 63983196 63983196 + A A G Missense_Mutation SNP ENST00000266079.5 exon2 c.A221G p.N74S exonic ENSG00000101161.8 . nonsynonymous SNV ENSG00000101161.8:ENST00000266079.5:exon2:c.A221G:p.N74S 20q13.33 C3L-04027 . . . . . . . . . 16.20 D T D D D D M T D 0.588 D D D 0.506 0.478 0.915 2.649 D D T T D D 3.130 23.700 0.998 D D 0.534 5.307 0.535 5.491 1.000 0.707 0.672 0.702 0.714 . 5.220 5.220 9.249 1.312 0.691 1.000 0.987 0.657 . PRP1_splicing_factor,_N-terminal . . . PRPF6 379 0 689 43 0.0587431693989071 TRUE TRUE ENSG00000158578.21 . BCM GRCh38.p13 chrX 55014829 55014829 + C C A Missense_Mutation SNP ENST00000650242.1 exon9 c.G1355T p.R452L exonic ENSG00000158578.21 . nonsynonymous SNV ENSG00000158578.21:ENST00000650242.1:exon9:c.G1355T:p.R452L Xp11.21 C3L-04027 . . . . . . . . . 15.19 T T D D D D L D D 0.864 D D D 0.847 0.739 0.985 1.468 T D D D D D 3.325 24.200 0.998 D . . . . . 1.000 . . . . . 5.640 5.640 7.844 0.947 0.599 1.000 1.000 0.997 104 Tetrapyrrole_biosynthesis,_5-aminolevulinic_acid_synthase;Aminotransferase,_class_I/classII . . . ALAS2 56 0 105 17 0.139344262295082 TRUE TRUE ENSG00000156925.12 . BCM GRCh38.p13 chrX 137567226 137567226 + G G A Missense_Mutation SNP ENST00000287538.10 exon1 c.G535A p.V179M exonic ENSG00000156925.12 . nonsynonymous SNV ENSG00000156925.12:ENST00000287538.10:exon1:c.G535A:p.V179M Xq26.3 C3L-04027 . . . . . . . . . 8.19 D T D P N D M T N 0.138 T T D 0.105 0.235 0.412 2.502 D T T T D T 3.117 23.700 0.998 D . . . . . 1.000 . . . . . 4.680 3.820 5.448 1.160 0.656 1.000 1.000 0.998 690 . . . . ZIC3 119 0 182 36 0.165137614678899 TRUE NA ENSG00000157933.10 . BCM GRCh38.p13 chr1 2303891 2303891 + C C T Silent SNP ENST00000378536.5 exon4 c.C1263T p.L421L exonic ENSG00000157933.10 . synonymous SNV ENSG00000157933.10:ENST00000378536.5:exon4:c.C1263T:p.L421L 1p36.32 C3L-04027 0.0001 0 9.079e-05 0.0001 0 0.0001 0 0.0003 rs773045410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66013372;OCCURENCE=1(stomach) SKI 410 1 693 54 0.072289156626506 TRUE TRUE ENSG00000090432.7 . BCM GRCh38.p13 chr1 20501245 20501245 + A A G Silent SNP ENST00000264198.5 exon4 c.T504C p.D168D exonic ENSG00000090432.7 . synonymous SNV ENSG00000090432.7:ENST00000264198.5:exon4:c.T504C:p.D168D 1p36.12 C3L-04027 . . . . . . . . rs964377314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUL1 199 1 338 30 0.0815217391304348 TRUE NA ENSG00000121904.17 . BCM GRCh38.p13 chr1 33569492 33569492 + C C G Silent SNP ENST00000373388.6 exon53 c.G8019C p.L2673L exonic ENSG00000121904.17 . synonymous SNV ENSG00000121904.17:ENST00000373388.6:exon53:c.G8019C:p.L2673L 1p35.1 C3L-04027 8.246e-06 0 0 0 0 0 0 6.062e-05 rs759916101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53930253;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) CSMD2 208 0 360 31 0.0792838874680307 TRUE TRUE ENSG00000014914.21 . BCM GRCh38.p13 chr1 149934205 149934205 + G G A Silent SNP ENST00000439741.4 exon7 c.C669T p.F223F exonic ENSG00000014914.21 . synonymous SNV ENSG00000014914.21:ENST00000439741.4:exon7:c.C669T:p.F223F 1q21.2 C3L-04027 8.237e-06 0 0 0 0 0 0 6.056e-05 rs781940783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63807448;OCCURENCE=1(endometrium) MTMR11 228 0 413 33 0.0739910313901345 TRUE TRUE ENSG00000127074.14 . BCM GRCh38.p13 chr1 192659376 192659376 + G G A Silent SNP ENST00000543215.5 exon6 c.G333A p.R111R exonic ENSG00000127074.14 . synonymous SNV ENSG00000127074.14:ENST00000543215.5:exon6:c.G333A:p.R111R 1q31.2 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS13 154 0 223 24 0.097165991902834 TRUE TRUE ENSG00000136720.7 . BCM GRCh38.p13 chr2 128318420 128318420 + G G A Silent SNP ENST00000259241.7 exon1 c.C144T p.R48R exonic ENSG00000136720.7 . synonymous SNV ENSG00000136720.7:ENST00000259241.7:exon1:c.C144T:p.R48R 2q14.3 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HS6ST1 195 0 310 39 0.111747851002865 NA TRUE ENSG00000115850.10 . BCM GRCh38.p13 chr2 135808474 135808474 + G G A Silent SNP ENST00000264162.7 exon8 c.C3873T p.Y1291Y exonic ENSG00000115850.10 . synonymous SNV ENSG00000115850.10:ENST00000264162.7:exon8:c.C3873T:p.Y1291Y 2q21.3 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LCT 312 0 547 34 0.0585197934595525 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178712562 178712562 + A A G Silent SNP ENST00000591111.5 exon93 c.T26409C p.D8803D exonic ENSG00000155657.27 . synonymous SNV ENSG00000155657.27:ENST00000591111.5:exon93:c.T26409C:p.D8803D 2q31.2 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN 99 0 164 15 0.0837988826815642 TRUE TRUE ENSG00000153820.13 . BCM GRCh38.p13 chr2 228017743 228017743 + A A C Silent SNP ENST00000392056.8 exon7 c.T3111G p.L1037L exonic ENSG00000153820.13 . synonymous SNV ENSG00000153820.13:ENST00000392056.8:exon7:c.T3111G:p.L1037L 2q36.3 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPHKAP 191 0 273 20 0.068259385665529 TRUE TRUE ENSG00000163359.16 . BCM GRCh38.p13 chr2 237369059 237369059 + G G A Silent SNP ENST00000295550.9 exon10 c.C4404T p.I1468I exonic ENSG00000163359.16 . synonymous SNV ENSG00000163359.16:ENST00000295550.9:exon10:c.C4404T:p.I1468I 2q37.3 C3L-04027 3.298e-05 9.626e-05 8.651e-05 0.0001 0 1.499e-05 0 0 rs371075249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL6A3 411 1 701 58 0.0764163372859025 TRUE NA ENSG00000144668.12 . BCM GRCh38.p13 chr3 37519303 37519303 + G G A Silent SNP ENST00000264741.10 exon11 c.G1185A p.A395A exonic ENSG00000144668.12 . synonymous SNV ENSG00000144668.12:ENST00000264741.10:exon11:c.G1185A:p.A395A 3p22.2 C3L-04027 3.353e-05 0 0 0 0 6.062e-05 0 0 rs753124626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGA9 501 1 846 47 0.0526315789473684 TRUE NA ENSG00000007402.11 . BCM GRCh38.p13 chr3 50376144 50376144 + G G A Silent SNP ENST00000479441.1 exon18 c.C1671T p.Y557Y exonic ENSG00000007402.11 . synonymous SNV ENSG00000007402.11:ENST00000479441.1:exon18:c.C1671T:p.Y557Y 3p21.31 C3L-04027 8.305e-05 0 0 0.0001 0 0 0 0.0005 rs370651951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA2D2 344 0 649 41 0.0594202898550725 TRUE NA ENSG00000112902.12 . BCM GRCh38.p13 chr5 9044538 9044538 + G G A Silent SNP ENST00000382496.10 exon22 c.C2940T p.I980I exonic ENSG00000112902.12 . synonymous SNV ENSG00000112902.12:ENST00000382496.10:exon22:c.C2940T:p.I980I 5p15.31 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEMA5A 387 0 684 51 0.0693877551020408 TRUE TRUE ENSG00000131711.15 . BCM GRCh38.p13 chr5 72196811 72196811 + G G A Silent SNP ENST00000296755.12 exon5 c.G3456A p.T1152T exonic ENSG00000131711.15 . synonymous SNV ENSG00000131711.15:ENST00000296755.12:exon5:c.G3456A:p.T1152T 5q13.2 C3L-04027 6.594e-05 0 8.646e-05 0 0 7.496e-05 0 0.0001 rs145061898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57099043;OCCURENCE=2(large_intestine) MAP1B 176 0 254 23 0.0830324909747292 TRUE TRUE ENSG00000113209.9 . BCM GRCh38.p13 chr5 141137123 141137123 + G G A Silent SNP ENST00000231134.8 exon1 c.G1689A p.P563P exonic ENSG00000113209.9 . synonymous SNV ENSG00000113209.9:ENST00000231134.8:exon1:c.G1689A:p.P563P 5q31.3 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHB5 976 2 1468 86 0.0553410553410553 NA TRUE ENSG00000134516.18 . BCM GRCh38.p13 chr5 170067554 170067554 + G G A Silent SNP ENST00000520908.7 exon45 c.G4512A p.T1504T exonic ENSG00000134516.18 . synonymous SNV ENSG00000134516.18:ENST00000520908.7:exon45:c.G4512A:p.T1504T 5q35.1 C3L-04027 4.943e-05 0 0 0 0 7.494e-05 0 6.056e-05 rs376411478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK2 134 0 278 17 0.0576271186440678 TRUE NA ENSG00000146221.10 . BCM GRCh38.p13 chr6 44286183 44286183 + G G A Silent SNP ENST00000371505.5 exon3 c.C627T p.G209G exonic ENSG00000146221.10 . synonymous SNV ENSG00000146221.10:ENST00000371505.5:exon3:c.C627T:p.G209G 6p21.1 C3L-04027 1.662e-05 0 0 0.0001 0 1.515e-05 0 0 rs202138207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101025273;OCCURENCE=1(stomach) TCTE1 154 0 266 19 0.0666666666666667 TRUE NA ENSG00000169583.13 . BCM GRCh38.p13 chr9 136994801 136994801 + C C T Silent SNP ENST00000494426.2 exon6 c.G591A p.A197A exonic ENSG00000169583.13 . synonymous SNV ENSG00000169583.13:ENST00000494426.2:exon6:c.G591A:p.A197A 9q34.3 C3L-04027 0.0003 0.0003 0 0 0 0.0006 0 0 rs376417159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLIC3 190 0 331 37 0.10054347826087 TRUE NA ENSG00000179292.5 . BCM GRCh38.p13 chr11 66295122 66295122 + G G A Silent SNP ENST00000327259.5 exon2 c.G876A p.S292S exonic ENSG00000179292.5 . synonymous SNV ENSG00000179292.5:ENST00000327259.5:exon2:c.G876A:p.S292S 11q13.2 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM151A 152 0 243 32 0.116363636363636 TRUE NA ENSG00000151079.7 . BCM GRCh38.p13 chr12 4810569 4810569 + C C T Silent SNP ENST00000280684.3 exon1 c.C528T p.I176I exonic ENSG00000151079.7 . synonymous SNV ENSG00000151079.7:ENST00000280684.3:exon1:c.C528T:p.I176I 12p13.32 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54973970;OCCURENCE=2(urinary_tract) KCNA6 537 0 837 191 0.18579766536965 TRUE TRUE ENSG00000165899.11 . BCM GRCh38.p13 chr12 80336438 80336438 + G G C Silent SNP ENST00000547103.6 exon40 c.G4626C p.L1542L exonic ENSG00000165899.11 . synonymous SNV ENSG00000165899.11:ENST00000547103.6:exon40:c.G4626C:p.L1542L 12q21.31 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OTOGL 100 0 157 10 0.0598802395209581 TRUE TRUE ENSG00000174015.10 . BCM GRCh38.p13 chr13 45714033 45714033 + G G A Silent SNP ENST00000310521.6 exon3 c.G1008A p.G336G exonic ENSG00000174015.10 . synonymous SNV ENSG00000174015.10:ENST00000310521.6:exon3:c.G1008A:p.G336G 13q14.13 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CBY2 59 0 81 11 0.119565217391304 TRUE NA ENSG00000140937.14 . BCM GRCh38.p13 chr16 64982107 64982107 + A A T Silent SNP ENST00000268603.9 exon8 c.T1194A p.A398A exonic ENSG00000140937.14 . synonymous SNV ENSG00000140937.14:ENST00000268603.9:exon8:c.T1194A:p.A398A 16q21 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDH11 136 0 237 15 0.0595238095238095 TRUE TRUE ENSG00000176678.6 . BCM GRCh38.p13 chr16 86579425 86579425 + G G A Silent SNP ENST00000320241.5 exon1 c.G702A p.A234A exonic ENSG00000176678.6 . synonymous SNV ENSG00000176678.6:ENST00000320241.5:exon1:c.G702A:p.A234A 16q24.1 C3L-04027 . . . . . . . . rs766649546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXL1 189 0 251 29 0.103571428571429 TRUE NA ENSG00000171456.20 . BCM GRCh38.p13 chr20 32436894 32436894 + A A G Silent SNP ENST00000375687.10 exon13 c.A4182G p.E1394E exonic ENSG00000171456.20 . synonymous SNV ENSG00000171456.20:ENST00000375687.10:exon13:c.A4182G:p.E1394E 20q11.21 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASXL1 306 0 466 37 0.073558648111332 TRUE TRUE ENSG00000159086.15 . BCM GRCh38.p13 chr21 32762238 32762238 + A A C Silent SNP ENST00000331923.9 exon4 c.T729G p.P243P exonic ENSG00000159086.15 . synonymous SNV ENSG00000159086.15:ENST00000331923.9:exon4:c.T729G:p.P243P 21q22.11 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAXBP1 347 1 635 35 0.0522388059701493 TRUE NA ENSG00000100346.18 . BCM GRCh38.p13 chr22 39686000 39686000 + C C T Silent SNP ENST00000402142.4 exon37 c.C6267T p.S2089S exonic ENSG00000100346.18 . synonymous SNV ENSG00000100346.18:ENST00000402142.4:exon37:c.C6267T:p.S2089S 22q13.1 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA1I 22 0 25 5 0.166666666666667 TRUE NA ENSG00000073169.14 . BCM GRCh38.p13 chr22 50206396 50206396 + C C G Unknown SNP NA NA NA NA exonic ENSG00000073169.14 . unknown UNKNOWN 22q13.33 C3L-04027 . . . . . . . . . 12.19 T D D D D D M T D 0.869 T T . 0.463 0.851 0.637 0.487 T T D T D D 3.186 23.800 0.996 D D 0.649 6.464 0.540 5.549 1.000 0.722 0.702 0.269 0.735 . 5.210 4.190 7.593 1.026 0.599 1.000 0.863 0.172 684 . . . . SELENOO 392 0 747 50 0.0627352572145546 TRUE TRUE ENSG00000134215.16 . BCM GRCh38.p13 chr1 107669400 107669400 + T T G Intron SNP NA NA NA NA intronic ENSG00000134215.16 . . . 1p13.3 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAV3 259 0 455 31 0.0637860082304527 TRUE TRUE ENSG00000160886.13 . BCM GRCh38.p13 chr8 142700454 142700454 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000160886.13 ENST00000292430.10:c.-74G>A . . 8q24.3 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LY6K 121 0 192 11 0.0541871921182266 TRUE NA ENSG00000153487.13 . BCM GRCh38.p13 chr13 110715595 110715595 + G G C Intron SNP NA NA NA NA intronic ENSG00000153487.13 . . . 13q34 C3L-04027 9.144e-05 0 0.0003 0 0 0 0 0.0005 rs554816174 4.16 D T . . . D . T N 0.236 T T D 0.203 0.385 0.825 0.070 T T T T T T 3.181 23.800 0.683 D N 0.289 3.725 0.293 3.676 1.000 0.025 0.374 0.289 0.250 . 4.120 4.120 1.828 0.129 0.606 1.000 0.939 0.946 982 . . . . ING1 162 0 299 29 0.0884146341463415 TRUE NA ENSG00000207731.1 . BCM GRCh38.p13 chrX 147230805 147230805 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207731.1 . . . Xq27.3 C3L-04027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR506 94 0 163 16 0.0893854748603352 TRUE NA ENSG00000117713.20 . BCM GRCh38.p13 chr1 26697510 26697510 + - NA G Frame_Shift_Ins NA ENST00000324856.13 exon1 c.1108dupG p.Q372Afs*28 exonic ENSG00000117713.20 . frameshift insertion ENSG00000117713.20:ENST00000324856.13:exon1:c.1108dupG:p.Q372Afs*28 1p36.11 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID1A NA NA NA NA NA NA NA ENSG00000117010.17 . BCM GRCh38.p13 chr1 40546617 40546617 + T T - Nonsense_Mutation SNP ENST00000372699.8 exon5 c.294delT p.L100* exonic ENSG00000117010.17 . stopgain ENSG00000117010.17:ENST00000372699.8:exon5:c.294delT:p.L100* 1p34.2 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF684 67 0 72 17 0.191011235955056 TRUE TRUE ENSG00000063660.9 . BCM GRCh38.p13 chr2 240462517 240462517 + G G A Missense_Mutation SNP ENST00000264039.7 exon3 c.G652A p.V218M exonic ENSG00000063660.9 . nonsynonymous SNV ENSG00000063660.9:ENST00000264039.7:exon3:c.G652A:p.V218M 2q37.3 C3N-02585 2.03e-05 0 9.346e-05 0 0 1.82e-05 0 0 rs368146643 10.20 D D D D N D M T N 0.307 T T D 0.247 0.757 0.884 0.530 D T T T D D 3.377 24.300 0.998 N N 0.467 4.788 0.325 3.867 0.230 0.696 0.588 0.723 0.563 . 2.970 2.970 1.133 1.058 0.614 0.141 0.070 0.404 994 . . . . GPC1 99 0 94 17 0.153153153153153 TRUE NA ENSG00000168026.18 . BCM GRCh38.p13 chr3 39136360 39136360 + - NA T Frame_Shift_Ins NA ENST00000431162.6 exon23 c.2970dupT p.L992Ffs*5 exonic ENSG00000168026.18 . frameshift insertion ENSG00000168026.18:ENST00000431162.6:exon23:c.2970dupT:p.L992Ffs*5 3p22.2 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTC21A NA NA NA NA NA NA NA ENSG00000057019.16 . BCM GRCh38.p13 chr3 98811274 98811274 + T T C Missense_Mutation SNP ENST00000326840.11 exon12 c.A1496G p.N499S exonic ENSG00000057019.16 . nonsynonymous SNV ENSG00000057019.16:ENST00000326840.11:exon12:c.A1496G:p.N499S 3q12.1 C3N-02585 . . . . . . . . rs377415899 2.20 T T B B N N L D N 0.143 T T D 0.104 . 0.829 0.078 T T T T T T 1.521 15.870 0.976 N N -0.606 0.977 -0.506 1.193 1.000 0.732 0.588 0.744 0.734 . 5.580 3.080 0.449 -0.143 -0.112 0.006 0.419 0.821 809 . . . . DCBLD2 146 0 168 20 0.106382978723404 TRUE NA ENSG00000240682.10 . BCM GRCh38.p13 chr3 129156916 129156916 + C C A Missense_Mutation SNP ENST00000393295.8 exon4 c.G83T p.R28L exonic ENSG00000240682.10;ENSG00000261796.1 . nonsynonymous SNV ENSG00000240682.10:ENST00000393295.8:exon4:c.G83T:p.R28L,ENSG00000261796.1:ENST00000418265.1:exon4:c.G83T:p.R28L 3q21.3 C3N-02585 . . . . . . . . . 13.20 D D D D D D M T D 0.597 T T D 0.254 0.635 0.043 2.003 T T T T D D 4.407 31 0.998 D D 0.705 7.184 0.665 7.144 0.983 0.707 0.725 0.725 0.714 . 4.860 4.860 5.692 0.980 0.549 1.000 0.998 0.976 391 . . . . ISY1 267 0 324 57 0.149606299212598 TRUE TRUE ENSG00000113083.14 . BCM GRCh38.p13 chr5 122074038 122074038 + C C T Missense_Mutation SNP ENST00000231004.5 exon4 c.G1010A p.R337Q exonic ENSG00000113083.14 . nonsynonymous SNV ENSG00000113083.14:ENST00000231004.5:exon4:c.G1010A:p.R337Q 5q23.1 C3N-02585 . . . . . . . . . 13.20 D D D D D D M T D 0.752 T T T 0.421 0.779 0.701 1.241 T T D T D D 4.402 31 1.000 D D 0.867 10.227 0.854 11.922 1.000 0.660 0.588 0.659 0.651 . 5.980 5.980 7.568 1.026 0.599 1.000 0.999 0.997 692 . . . ID=COSV50239356;OCCURENCE=1(cervix),1(large_intestine),1(urinary_tract),1(skin) LOX 113 0 148 16 0.0975609756097561 TRUE TRUE ENSG00000204961.7 . BCM GRCh38.p13 chr5 140848545 140848545 + C C T Missense_Mutation SNP ENST00000532602.2 exon1 c.C50T p.S17L exonic ENSG00000204961.7 . nonsynonymous SNV ENSG00000204961.7:ENST00000532602.2:exon1:c.C50T:p.S17L 5q31.3 C3N-02585 1.698e-05 0 0 0 0 0 0 0.0001 rs781970599 0.18 T T B B . N N T N 0.132 T T T 0.053 0.407 0.399 . . T T T T T 0.121 2.289 0.706 N N -1.329 0.149 -1.315 0.199 0.000 0.581 0.574 0.576 0.584 . 3.730 -0.077 -0.596 0.910 0.545 0.000 0.564 0.146 32 . . . . PCDHA9 393 0 313 77 0.197435897435897 TRUE NA ENSG00000113211.5 . BCM GRCh38.p13 chr5 141151848 141151848 + G G A Missense_Mutation SNP ENST00000231136.3 exon1 c.G1591A p.A531T exonic ENSG00000113211.5 . nonsynonymous SNV ENSG00000113211.5:ENST00000231136.3:exon1:c.G1591A:p.A531T 5q31.3 C3N-02585 . . . . . . . . . 12.16 D D . . . D . T D 0.771 D D D 0.553 0.834 0.912 . T T D D D T 3.612 25.100 0.999 D D 1.008 14.165 0.862 12.206 0.760 0.487 0.574 0.409 0.542 . 4.190 4.190 7.912 0.171 0.477 1.000 0.001 0.558 645 Cadherin-like . . ID=COSV50718471;OCCURENCE=2(large_intestine) PCDHB6 1391 1 1196 270 0.184174624829468 NA TRUE ENSG00000213316.10 . BCM GRCh38.p13 chr5 179795961 179795961 + C C A Missense_Mutation SNP ENST00000292596.15 exon4 c.C250A p.L84M exonic ENSG00000213316.10 . nonsynonymous SNV ENSG00000213316.10:ENST00000292596.15:exon4:c.C250A:p.L84M 5q35.3 C3N-02585 . . . . . . . . . 8.19 D D D P U D M T N 0.391 T T D 0.343 0.700 0.453 1.091 D T T T D . 2.596 22.600 0.974 N N 0.019 2.581 -0.163 1.877 1.000 0.652 0.219 0.641 0.555 . 3.860 1.970 -0.090 0.064 0.442 0.001 0.989 0.993 900 . . . . LTC4S 532 0 552 136 0.197674418604651 TRUE TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152331133 152331133 + G G A Missense_Mutation SNP ENST00000367255.10 exon78 c.C13552T p.R4518C exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon78:c.C13552T:p.R4518C 6q25.2 C3N-02585 8.237e-06 9.617e-05 0 0 0 0 0 0 rs569216024 14.20 D D D D D D M T D 0.770 T T D 0.244 0.500 0.541 0.707 T D T T D D 3.323 24.200 0.996 D D 0.630 6.248 0.586 6.053 0.998 0.554 0.574 0.574 0.568 . 6.030 6.030 3.349 1.176 0.676 1.000 0.887 0.554 847 . . . ID=COSV54916166;OCCURENCE=1(pancreas),1(skin) SYNE1 486 1 397 91 0.186475409836066 TRUE TRUE ENSG00000146530.14 . BCM GRCh38.p13 chr7 12377804 12377804 + G G C Missense_Mutation SNP ENST00000275358.8 exon7 c.C996G p.I332M exonic ENSG00000146530.14 . nonsynonymous SNV ENSG00000146530.14:ENST00000275358.8:exon7:c.C996G:p.I332M 7p21.3 C3N-02585 . . . . . . . . . 9.19 D D D P . N M D N 0.303 T D D 0.331 0.202 0.246 . T T T T D T 2.574 22.600 0.996 D N 0.078 2.802 -0.002 2.351 0.989 0.651 0.588 0.651 0.586 . 4.680 -1.010 0.902 -0.246 0.618 1.000 0.998 0.998 838 . . . . VWDE 72 0 88 24 0.214285714285714 TRUE TRUE ENSG00000177409.12 . BCM GRCh38.p13 chr7 93132497 93132497 + - NA T Frame_Shift_Ins NA ENST00000318238.9 exon5 c.3474dupA p.A1159Sfs*13 exonic ENSG00000177409.12 . frameshift insertion ENSG00000177409.12:ENST00000318238.9:exon5:c.3474dupA:p.A1159Sfs*13 7q21.2 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAMD9L NA NA NA NA NA NA NA ENSG00000211734.3 . BCM GRCh38.p13 chr7 142321100 142321114 + TGCTGCTTTGTCTCC TGCTGCTTTGTCTCC - In_Frame_Del DEL ENST00000390381.3 exon2 c.26_40del p.L10_L14del exonic ENSG00000211734.3 . nonframeshift deletion ENSG00000211734.3:ENST00000390381.3:exon2:c.26_40del:p.L10_L14del 7q34 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRBV5-1 287 0 334 28 0.0773480662983425 TRUE TRUE ENSG00000085788.14 . BCM GRCh38.p13 chr8 38245755 38245755 + A A G Missense_Mutation SNP ENST00000397166.7 exon8 c.A862G p.I288V exonic ENSG00000085788.14 . nonsynonymous SNV ENSG00000085788.14:ENST00000397166.7:exon8:c.A862G:p.I288V 8p11.23 C3N-02585 . . . . . . . . . 9.20 D D B B D D L T N 0.692 T T T 0.201 . 0.370 0.225 D T T T D D 2.915 23.200 0.995 D D 0.388 4.270 0.503 5.185 1.000 0.707 0.725 0.725 0.714 . 5.550 5.550 9.236 1.288 0.674 1.000 1.000 0.999 162 . . . . DDHD2 266 0 277 80 0.224089635854342 TRUE NA ENSG00000023287.13 . BCM GRCh38.p13 chr8 52656681 52656681 + C C A Missense_Mutation SNP ENST00000025008.10 exon15 c.G3148T p.V1050F exonic ENSG00000023287.13 . nonsynonymous SNV ENSG00000023287.13:ENST00000025008.10:exon15:c.G3148T:p.V1050F 8q11.23 C3N-02585 . . . . . . . . . 5.20 D T P B N D M T N 0.130 T T T 0.111 0.134 0.251 0.386 T T T T D T 2.102 20.100 0.988 D N 0.002 2.520 0.097 2.724 0.623 0.732 0.725 0.710 0.728 . 5.400 4.480 0.540 1.026 0.599 0.738 0.874 0.923 867 . . . . RB1CC1 191 0 221 40 0.153256704980843 TRUE TRUE ENSG00000180921.7 . BCM GRCh38.p13 chr8 143726522 143726522 + C C T Missense_Mutation SNP ENST00000388913.4 exon5 c.G2939A p.R980H exonic ENSG00000180921.7 . nonsynonymous SNV ENSG00000180921.7:ENST00000388913.4:exon5:c.G2939A:p.R980H 8q24.3 C3N-02585 . . . . . . . . . 3.19 T T D P N N L T N 0.129 T T D 0.052 0.201 0.068 0.414 T T T T D . 2.511 22.400 0.995 N N 0.131 3.012 0.094 2.709 1.000 0.650 0.551 0.607 0.563 . 5.110 3.270 0.521 0.074 0.594 0.045 0.081 0.168 889 . . . . FAM83H 797 0 806 177 0.180061037639878 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971029 21971029 + C C T Nonsense_Mutation SNP ENST00000304494.9 exon2 c.G330A p.W110X exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon2:c.G330A:p.W110X 9p21.3 C3N-02585 . . . . . . . . rs121913389 9.15 D D . . N D . D D 0.436 T T . 0.455 . 0.972 . . T D D D T 7.707 39 0.995 N D 0.352 4.061 0.344 3.981 1.000 0.610 0.383 0.607 0.639 . 5.930 5.930 0.403 1.026 0.599 0.062 0.998 0.991 900 . . . ID=COSV58682827;OCCURENCE=3(penis),3(oesophagus),3(central_nervous_system),1(biliary_tract),2(vulva),3(haematopoietic_and_lymphoid_tissue),1(urinary_tract),1(soft_tissue),5(pancreas),16(skin),4(lung),31(upper_aerodigestive_tract),2(endometrium) CDKN2A 1158 0 862 263 0.233777777777778 NA TRUE ENSG00000173258.13 . BCM GRCh38.p13 chr9 111542241 111542241 + - NA A Frame_Shift_Ins NA ENST00000309235.6 exon6 c.1307dupA p.T438Nfs*3 exonic ENSG00000173258.13 . frameshift insertion ENSG00000173258.13:ENST00000309235.6:exon6:c.1307dupA:p.T438Nfs*3 9q31.3 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF483 NA NA NA NA NA NA NA ENSG00000151150.22 . BCM GRCh38.p13 chr10 60071372 60071372 + T T C Missense_Mutation SNP ENST00000280772.7 exon37 c.A9509G p.E3170G exonic ENSG00000151150.22 . nonsynonymous SNV ENSG00000151150.22:ENST00000280772.7:exon37:c.A9509G:p.E3170G 10q21.2 C3N-02585 . . . . . . . . . 16.19 D . D D D D M T D 0.799 T T D 0.477 0.150 0.574 0.653 D D D D D D 4.119 27.900 0.999 D D 0.687 6.937 0.692 7.602 1.000 0.487 0.492 0.547 0.564 . 5.480 5.480 8.017 1.138 0.665 1.000 1.000 0.998 720 . . . . ANK3 380 0 445 88 0.165103189493433 TRUE TRUE ENSG00000165832.6 . BCM GRCh38.p13 chr10 114970389 114970389 + T T C Missense_Mutation SNP ENST00000298746.5 exon5 c.T545C p.I182T exonic ENSG00000165832.6 . nonsynonymous SNV ENSG00000165832.6:ENST00000298746.5:exon5:c.T545C:p.I182T 10q25.3 C3N-02585 3.302e-05 0 0 0 0 6.003e-05 0 0 rs572364497 10.20 D D P P N D M T D 0.659 T T T 0.338 0.891 0.809 0.598 T T T D D D 3.760 25.700 0.998 D D 0.518 5.178 0.570 5.871 1.000 0.732 0.744 0.710 0.634 . 5.660 5.660 6.171 1.138 0.665 1.000 0.998 0.991 894 Pseudouridine_synthase_II,_N-terminal . . . TRUB1 182 0 176 46 0.207207207207207 TRUE NA ENSG00000117983.17 . BCM GRCh38.p13 chr11 1227677 1227677 + G G A Missense_Mutation SNP ENST00000529681.5 exon7 c.G670A p.A224T exonic ENSG00000117983.17 . nonsynonymous SNV ENSG00000117983.17:ENST00000529681.5:exon7:c.G670A:p.A224T 11p15.5 C3N-02585 4.948e-05 0 0 0 0 0 0 0.0001 rs745336157 0.18 T . B B . N N T N 0.073 T T T 0.026 . 0.043 . T T T T T T -0.687 0.047 0.689 N N -1.711 0.035 -1.727 0.046 0.001 0.403 0.547 0.578 0.563 . 3.490 -2.000 -0.454 -2.694 -1.579 0.000 0.000 0.002 964 von_Willebrand_factor,_type_D_domain . . . MUC5B 150 0 233 20 0.0790513833992095 TRUE NA ENSG00000197674.7 . BCM GRCh38.p13 chr11 4690925 4690925 + G G T Missense_Mutation SNP ENST00000641159.1 exon2 c.C772A p.L258M exonic ENSG00000197674.7 . nonsynonymous SNV ENSG00000197674.7:ENST00000641159.1:exon2:c.C772A:p.L258M 11p15.4 C3N-02585 . . . . . . . . . 1.6 . . . . N D . . . . T T . 0.066 . . . . . . . . T 2.320 21.700 0.994 N . -0.218 1.826 -0.284 1.597 0.000 0.487 0.574 0.574 0.564 0.248 4.670 1.740 0.029 -0.101 0.676 0.001 0.965 0.702 852 . . . . OR51C1P 87 0 130 23 0.150326797385621 TRUE NA ENSG00000162231.14 . BCM GRCh38.p13 chr11 62796461 62796461 + G G A Nonsense_Mutation SNP ENST00000294172.7 exon14 c.C1285T p.R429X exonic ENSG00000162231.14 . stopgain ENSG00000162231.14:ENST00000294172.7:exon14:c.C1285T:p.R429X 11q12.3 C3N-02585 . . . . . . . . . 6.6 . . . . D D . . . 0.853 . . . . . . . . . D D . . 7.897 40 0.997 D D 0.738 7.690 0.546 5.607 1.000 0.672 0.702 0.702 0.711 . 5.130 4.210 5.523 1.176 0.676 1.000 0.984 0.756 779 Nuclear_transport_factor_2,_eukaryote;Nuclear_transport_factor_2 . . ID=COSV53677747;OCCURENCE=1(skin) NXF1 318 0 311 62 0.166219839142091 TRUE NA ENSG00000072518.20 . BCM GRCh38.p13 chr11 63904109 63904109 + - NA C Frame_Shift_Ins NA ENST00000402010.6 exon15 c.1639dupC p.T549Hfs*4 exonic ENSG00000072518.20 . frameshift insertion ENSG00000072518.20:ENST00000402010.6:exon15:c.1639dupC:p.T549Hfs*4 11q13.1 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MARK2 NA NA NA NA NA NA NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-02585 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 362 0 458 100 0.17921146953405 TRUE TRUE ENSG00000136011.15 . BCM GRCh38.p13 chr12 103638181 103638181 + C C A Missense_Mutation SNP ENST00000388887.7 exon8 c.C875A p.S292Y exonic ENSG00000136011.15 . nonsynonymous SNV ENSG00000136011.15:ENST00000388887.7:exon8:c.C875A:p.S292Y 12q23.3 C3N-02585 . . . . . . . . . 14.20 D D D D D D M T D 0.874 T T T 0.339 0.485 0.674 0.447 T D D D D T 3.245 24.000 0.993 D D 0.486 4.926 0.371 4.161 1.000 0.447 0.547 0.547 0.530 . 5.470 5.470 5.967 1.026 0.599 0.960 0.148 0.246 863 . . . . STAB2 185 0 226 16 0.0661157024793388 TRUE TRUE ENSG00000111271.15 . BCM GRCh38.p13 chr12 111728095 111728096 + CA CA - Frame_Shift_Del DEL ENST00000313698.9 exon9 c.1195_1196del p.H399Qfs*10 exonic ENSG00000111271.15 . frameshift deletion ENSG00000111271.15:ENST00000313698.9:exon9:c.1195_1196del:p.H399Qfs*10 12q24.12 C3N-02585 1.656e-05 9.617e-05 0 0 0 0 0 6.214e-05 rs774510931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACAD10 172 0 177 36 0.169014084507042 TRUE NA ENSG00000135094.11 . BCM GRCh38.p13 chr12 113398816 113398816 + G G A Missense_Mutation SNP ENST00000257549.9 exon4 c.C224T p.A75V exonic ENSG00000135094.11 . nonsynonymous SNV ENSG00000135094.11:ENST00000257549.9:exon4:c.C224T:p.A75V 12q24.13 C3N-02585 6.334e-05 0.0001 0.0001 0 0 7.071e-05 0 0 rs541907463 13.20 D T P B D N M D D 0.424 D D D 0.516 . 0.935 0.322 T D T D T D 2.075 19.830 0.999 D D -0.027 2.416 -0.145 1.925 0.724 0.497 0.547 0.547 0.542 . 3.880 3.880 5.036 1.164 0.662 0.937 0.013 0.273 867 Pyridoxal-phosphate_dependent_enzyme . . . SDS 222 0 277 82 0.228412256267409 TRUE NA ENSG00000136114.17 . BCM GRCh38.p13 chr13 52377721 52377721 + C C G Missense_Mutation SNP ENST00000258613.5 exon5 c.G2249C p.G750A exonic ENSG00000136114.17 . nonsynonymous SNV ENSG00000136114.17:ENST00000258613.5:exon5:c.G2249C:p.G750A 13q14.3 C3N-02585 . . . . . . . . . 1.20 T T B B N N L T D 0.086 T T T 0.024 0.141 0.085 0.289 T T T T T T 0.867 10.090 0.897 N N -0.622 0.949 -0.577 1.081 0.211 0.707 0.588 0.547 0.714 . 5.280 3.530 1.660 1.026 0.597 0.116 0.198 0.880 783 . . . . THSD1 132 0 139 34 0.196531791907514 TRUE TRUE ENSG00000128731.18 . BCM GRCh38.p13 chr15 28196323 28196323 + C C A Nonsense_Mutation SNP ENST00000261609.13 exon52 c.G8152T p.G2718X exonic ENSG00000128731.18 . stopgain ENSG00000128731.18:ENST00000261609.13:exon52:c.G8152T:p.G2718X 15q13.1 C3N-02585 . . . . . . . . . 5.6 . . . . D A . . . 0.940 . . . . . . . . . D D . . 9.181 48 0.989 D N 1.160 20.690 1.015 19.774 1.000 0.707 0.725 0.725 0.714 . 5.300 5.300 7.905 1.018 0.599 1.000 1.000 0.998 878 Zinc_finger,_ZZ-type . . . HERC2 40 0 54 12 0.181818181818182 NA TRUE ENSG00000159248.5 . BCM GRCh38.p13 chr15 34753124 34753124 + C C T Missense_Mutation SNP ENST00000290374.5 exon2 c.G320A p.R107H exonic ENSG00000159248.5 . nonsynonymous SNV ENSG00000159248.5:ENST00000290374.5:exon2:c.G320A:p.R107H 15q14 C3N-02585 . . . . . . . . . 16.20 T D D P D D L D N 0.311 D D D 0.754 0.394 0.917 2.204 D D D D D D 3.394 24.400 0.999 D D 0.558 5.521 0.605 6.283 1.000 0.447 0.563 0.507 0.632 . 4.900 4.900 7.852 1.026 0.599 1.000 0.983 0.953 912 Connexin,_N-terminal . . . GJD2 602 2 701 108 0.133498145859085 TRUE NA ENSG00000171345.13 . BCM GRCh38.p13 chr17 41523981 41523982 + TC TC - Frame_Shift_Del DEL ENST00000361566.7 exon6 c.964_965del p.D322Hfs*24 exonic ENSG00000171345.13 . frameshift deletion ENSG00000171345.13:ENST00000361566.7:exon6:c.964_965del:p.D322Hfs*24 17q21.2 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT19 262 0 265 62 0.18960244648318 TRUE TRUE ENSG00000158270.12 . BCM GRCh38.p13 chr18 346960 346960 + G G A Missense_Mutation SNP ENST00000400256.5 exon5 c.C662T p.T221M exonic ENSG00000158270.12 . nonsynonymous SNV ENSG00000158270.12:ENST00000400256.5:exon5:c.C662T:p.T221M 18p11.32 C3N-02585 4.942e-05 0.0006 0 0 0 0 0 0 rs148602317 2.20 T D B B N N N T N 0.344 T T D 0.100 . 0.196 0.544 T T T T T T 2.602 22.600 0.984 N N -0.744 0.740 -0.624 1.010 0.994 0.707 0.574 0.618 0.714 . 6.080 1.950 1.634 0.230 -0.106 0.401 0.750 0.782 822 . . . . COLEC12 199 0 254 62 0.19620253164557 TRUE NA ENSG00000105227.15 . BCM GRCh38.p13 chr19 40394382 40394382 + C C T Missense_Mutation SNP ENST00000324001.8 exon7 c.G3970A p.E1324K exonic ENSG00000105227.15 . nonsynonymous SNV ENSG00000105227.15:ENST00000324001.8:exon7:c.G3970A:p.E1324K 19q13.2 C3N-02585 . . . . . . . . . 2.20 T D B B N D L T N 0.285 T T T 0.069 0.309 0.542 0.254 T T T T T T 2.248 21.200 0.997 N N -0.193 1.895 -0.144 1.927 0.706 0.646 0.634 0.645 0.605 . 4.790 4.790 2.040 1.015 0.587 0.066 0.599 0.931 754 . . . . PRX 222 0 238 51 0.176470588235294 TRUE NA ENSG00000105618.14 . BCM GRCh38.p13 chr19 54118380 54118380 + T T A Missense_Mutation SNP ENST00000321030.9 exon2 c.T102A p.D34E exonic ENSG00000105618.14 . nonsynonymous SNV ENSG00000105618.14:ENST00000321030.9:exon2:c.T102A:p.D34E 19q13.42 C3N-02585 . . . . . . . . . 5.20 T T B B D D N D N 0.141 T T D 0.264 0.220 0.642 0.777 T T T T T T 1.027 11.960 0.966 D N -0.548 1.084 -0.402 1.368 0.650 0.707 0.725 0.702 0.714 . 4.770 1.550 0.018 0.190 -0.134 0.964 0.998 0.994 994 . . . . PRPF31 428 0 488 110 0.183946488294314 TRUE TRUE ENSG00000089057.15 . BCM GRCh38.p13 chr20 4869951 4869951 + G G A Missense_Mutation SNP ENST00000338244.6 exon12 c.C1205T p.A402V exonic ENSG00000089057.15 . nonsynonymous SNV ENSG00000089057.15:ENST00000338244.6:exon12:c.C1205T:p.A402V 20p13 C3N-02585 . . . . . . . . . 16.20 D D D D D D M T D 0.960 T T D 0.660 0.739 0.305 1.929 D T D D D D 3.730 25.500 0.999 D D 0.822 9.223 0.688 7.532 1.000 0.722 0.725 0.725 0.735 . 5.490 5.490 10.003 1.176 0.676 1.000 0.487 0.457 886 . . . . SLC23A2 201 0 215 52 0.194756554307116 TRUE TRUE ENSG00000133454.16 . BCM GRCh38.p13 chr22 25798079 25798079 + G G A Missense_Mutation SNP ENST00000335473.12 exon12 c.G2503A p.A835T exonic ENSG00000133454.16 . nonsynonymous SNV ENSG00000133454.16:ENST00000335473.12:exon12:c.G2503A:p.A835T 22q12.1 C3N-02585 4.314e-05 0 8.873e-05 0 0 6.246e-05 0 0 rs755534991 17.20 T D D D D D M D D 0.675 D D D 0.551 0.614 0.888 0.345 T T D D D D 3.875 26.200 0.998 D D 0.248 3.523 0.129 2.856 1.000 0.487 0.563 0.574 0.564 . 5.430 4.420 9.504 1.083 0.676 1.000 0.002 0.031 982 Class_XVIII_myosin,_motor_domain;Myosin_head,_motor_domain . . . MYO18B 152 0 157 12 0.0710059171597633 TRUE NA ENSG00000169933.15 . BCM GRCh38.p13 chrX 12716434 12716434 + G G A Missense_Mutation SNP ENST00000380682.5 exon15 c.G1975A p.A659T exonic ENSG00000169933.15 . nonsynonymous SNV ENSG00000169933.15:ENST00000380682.5:exon15:c.G1975A:p.A659T Xp22.2 C3N-02585 5.702e-05 0 0.0004 0.0002 0 0 0 0 rs760858730 1.19 T T B B N N L T N 0.073 T T T 0.062 0.302 0.204 0.123 T T T T T T 0.526 6.771 0.910 D . . . . . 0.055 . . . . . 5.860 5.000 1.968 -0.145 -0.750 0.968 0.439 0.364 728 . . . ID=COSV101043886;OCCURENCE=1(upper_aerodigestive_tract) FRMPD4 158 0 151 83 0.354700854700855 TRUE NA ENSG00000165288.11 . BCM GRCh38.p13 chrX 80709531 80709531 + C C T Missense_Mutation SNP ENST00000373275.5 exon21 c.G2372A p.R791H exonic ENSG00000165288.11 . nonsynonymous SNV ENSG00000165288.11:ENST00000373275.5:exon21:c.G2372A:p.R791H Xq21.1 C3N-02585 . . . . . . . . . 8.19 D D P B N D M T D 0.240 T T T 0.122 0.312 0.663 1.148 T D T T D T 2.310 21.600 0.997 D . . . . . 0.595 . . . . . 5.470 4.610 4.112 0.120 -0.182 1.000 0.981 0.894 681 . . . ID=COSV64743418;OCCURENCE=1(large_intestine),1(endometrium) BRWD3 129 0 121 60 0.331491712707182 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7676274 7676274 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon4:c.97-2A>T . . 17p13.1 C3N-02585 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.678 32 0.771 D . 0.498 5.020 0.177 3.075 0.858 0.257 0.272 0.293 0.120 0.099 3.590 3.590 1.423 1.082 0.661 0.993 0.100 0.032 434 . . . ID=COSV52678373;OCCURENCE=4(liver),3(large_intestine),1(ovary),1(kidney),1(soft_tissue),6(lung),1(upper_aerodigestive_tract) TP53 378 0 343 117 0.254347826086956 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51049326 51049326 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000141646.14;ENSG00000267699.2 ENST00000342988.8:exon4:c.454+2T>A;ENST00000590722.2:exon5:c.738+2T>A;ENST00000590722.2:exon5:UTR3 . . 18q21.2 C3N-02585 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.085 35 0.994 D . 1.097 17.365 0.963 16.731 1.000 0.164 0.106 0.128 0.243 0.981 5.920 5.920 5.441 1.138 0.609 1.000 1.000 0.999 683 . . . ID=COSV61687223;OCCURENCE=1(pancreas) SMAD4 275 1 250 56 0.183006535947712 TRUE TRUE ENSG00000189339.12 . BCM GRCh38.p13 chr1 1671580 1671580 + C C A Silent SNP ENST00000617444.5 exon6 c.G636T p.L212L exonic ENSG00000189339.12 . synonymous SNV ENSG00000189339.12:ENST00000617444.5:exon6:c.G636T:p.L212L 1p36.33 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC35E2B 136 0 119 25 0.173611111111111 TRUE TRUE ENSG00000206557.6 . BCM GRCh38.p13 chr3 32818362 32818362 + C C T Silent SNP ENST00000383763.6 exon1 c.C282T p.C94C exonic ENSG00000206557.6 . synonymous SNV ENSG00000206557.6:ENST00000383763.6:exon1:c.C282T:p.C94C 3p22.3 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM71 551 1 576 139 0.194405594405594 TRUE TRUE ENSG00000159692.15 . BCM GRCh38.p13 chr4 1228209 1228209 + G G A Silent SNP ENST00000290921.10 exon3 c.C330T p.A110A exonic ENSG00000159692.15 . synonymous SNV ENSG00000159692.15:ENST00000290921.10:exon3:c.C330T:p.A110A 4p16.3 C3N-02585 8.247e-06 0 0 0.0001 0 0 0 0 rs199545251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTBP1 103 1 154 37 0.193717277486911 TRUE NA ENSG00000152969.20 . BCM GRCh38.p13 chr4 6105731 6105731 + G G A Silent SNP ENST00000282924.9 exon3 c.C366T p.D122D exonic ENSG00000152969.20 . synonymous SNV ENSG00000152969.20:ENST00000282924.9:exon3:c.C366T:p.D122D 4p16.1 C3N-02585 2.246e-05 0 0 0 0 0 0 0.0001 rs199613129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JAKMIP1 387 0 434 96 0.181132075471698 TRUE NA ENSG00000231852.9 . BCM GRCh38.p13 chr6 32039415 32039415 + C C T Silent SNP ENST00000644719.2 exon4 c.C507T p.T169T exonic ENSG00000231852.9 . synonymous SNV ENSG00000231852.9:ENST00000644719.2:exon4:c.C507T:p.T169T 6p21.33 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP21A2 1188 0 872 278 0.241739130434783 NA TRUE ENSG00000181472.5 . BCM GRCh38.p13 chr6 151373548 151373548 + G G A Silent SNP ENST00000325144.5 exon2 c.C90T p.I30I exonic ENSG00000181472.5 . synonymous SNV ENSG00000181472.5:ENST00000325144.5:exon2:c.C90T:p.I30I 6q25.1 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBTB2 375 0 326 24 0.0685714285714286 TRUE TRUE ENSG00000099139.14 . BCM GRCh38.p13 chr9 76354035 76354035 + A A T Silent SNP ENST00000545128.5 exon36 c.A4989T p.G1663G exonic ENSG00000099139.14 . synonymous SNV ENSG00000099139.14:ENST00000545128.5:exon36:c.A4989T:p.G1663G 9q21.13 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCSK5 142 0 172 58 0.252173913043478 TRUE TRUE ENSG00000214655.10 . BCM GRCh38.p13 chr10 73789985 73789985 + C C T Silent SNP ENST00000605216.5 exon6 c.C768T p.D256D exonic ENSG00000214655.10 . synonymous SNV ENSG00000214655.10:ENST00000605216.5:exon6:c.C768T:p.D256D 10q22.2 C3N-02585 1.832e-05 0 0 0.0001 0 0 0 6.874e-05 rs753132557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101290168;OCCURENCE=1(endometrium) ZSWIM8 284 0 355 68 0.160756501182033 TRUE NA ENSG00000176895.9 . BCM GRCh38.p13 chr11 4907750 4907750 + C C T Silent SNP ENST00000641490.1 exon2 c.C381T p.H127H exonic ENSG00000176895.9 . synonymous SNV ENSG00000176895.9:ENST00000641490.1:exon2:c.C381T:p.H127H 11p15.4 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR51A7 238 0 260 68 0.207317073170732 TRUE TRUE ENSG00000173599.15 . BCM GRCh38.p13 chr11 66853378 66853378 + G G A Silent SNP ENST00000393960.7 exon13 c.C1374T p.N458N exonic ENSG00000173599.15 . synonymous SNV ENSG00000173599.15:ENST00000393960.7:exon13:c.C1374T:p.N458N 11q13.2 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PC 461 0 484 120 0.198675496688742 TRUE TRUE ENSG00000111262.6 . BCM GRCh38.p13 chr12 4911948 4911948 + C C T Silent SNP ENST00000382545.5 exon2 c.C570T p.P190P exonic ENSG00000111262.6 . synonymous SNV ENSG00000111262.6:ENST00000382545.5:exon2:c.C570T:p.P190P 12p13.32 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNA1 222 0 274 73 0.210374639769452 TRUE TRUE ENSG00000173821.19 . BCM GRCh38.p13 chr17 80345511 80345511 + G G A Silent SNP ENST00000508628.6 exon30 c.G7323A p.T2441T exonic ENSG00000173821.19 . synonymous SNV ENSG00000173821.19:ENST00000508628.6:exon30:c.G7323A:p.T2441T 17q25.3 C3N-02585 2.475e-05 0 0 0.0001 0 3e-05 0 0 rs774601132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60398008;OCCURENCE=2(pancreas) RNF213 97 0 120 12 0.0909090909090909 TRUE TRUE ENSG00000181143.15 . BCM GRCh38.p13 chr19 8894962 8894962 + G G A Silent SNP ENST00000397910.8 exon46 c.C39768T p.Y13256Y exonic ENSG00000181143.15 . synonymous SNV ENSG00000181143.15:ENST00000397910.8:exon46:c.C39768T:p.Y13256Y 19p13.2 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC16 243 0 277 63 0.185294117647059 TRUE TRUE ENSG00000130167.13 . BCM GRCh38.p13 chr19 11298321 11298321 + C C T Silent SNP ENST00000316737.5 exon2 c.C249T p.S83S exonic ENSG00000130167.13 . synonymous SNV ENSG00000130167.13:ENST00000316737.5:exon2:c.C249T:p.S83S 19p13.2 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPAN16 362 0 365 49 0.118357487922705 TRUE TRUE ENSG00000176988.9 . BCM GRCh38.p13 chrX 147981510 147981510 + G G A Silent SNP ENST00000370467.8 exon1 c.G108A p.S36S exonic ENSG00000176988.9 . synonymous SNV ENSG00000176988.9:ENST00000370467.8:exon1:c.G108A:p.S36S Xq27.3 C3N-02585 0.0001 0 0 0 0 0.0002 0 0 rs151160499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65070991;OCCURENCE=1(large_intestine),1(skin) FMR1NB 260 1 265 60 0.184615384615385 TRUE TRUE ENSG00000114948.13 . BCM GRCh38.p13 chr2 206605827 206605827 + C C T Intron SNP NA NA NA NA intronic ENSG00000114948.13 . . . 2q33.3 C3N-02585 . . . . . . . . rs995523709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAM23 224 0 276 53 0.161094224924012 TRUE NA ENSG00000170791.18 . BCM GRCh38.p13 chr8 56212856 56212856 + A A G Intron SNP NA NA NA NA intronic ENSG00000170791.18 . . . 8q12.1 C3N-02585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHCHD7 114 0 154 36 0.189473684210526 TRUE TRUE ENSG00000286708.1 . BCM GRCh38.p13 chr11 70907861 70907861 + G G A IGR SNP NA NA NA NA intergenic ENSG00000286708.1;ENSG00000172900.12 dist=11556;dist=474740 . . 11q13.4 C3N-02585 8.29e-05 0 0 0 0 0 0 0.0001 rs781914901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58344310;OCCURENCE=1(ovary) AP003783.1 340 0 407 76 0.157349896480331 TRUE NA ENSG00000175707.9 . BCM GRCh38.p13 chr1 26951461 26951461 + C C - Frame_Shift_Del DEL ENST00000320567.6 exon2 c.920delG p.R307Qfs*42 exonic ENSG00000175707.9 . frameshift deletion ENSG00000175707.9:ENST00000320567.6:exon2:c.920delG:p.R307Qfs*42 1p36.11 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDF1 141 0 170 49 0.223744292237443 TRUE TRUE ENSG00000134262.13 . BCM GRCh38.p13 chr1 113901796 113901796 + C C A Missense_Mutation SNP ENST00000369569.6 exon3 c.G428T p.G143V exonic ENSG00000134262.13 . nonsynonymous SNV ENSG00000134262.13:ENST00000369569.6:exon3:c.G428T:p.G143V 1p13.2 C3N-03039 . . . . . . . . . 15.20 D D D D D D M T D 0.877 T T D 0.351 0.709 0.764 0.626 T T D D D D 3.837 26.000 0.998 D D 0.791 8.611 0.745 8.691 1.000 0.706 0.663 0.710 0.714 . 5.470 4.500 5.342 1.026 0.599 1.000 0.990 0.994 574 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . AP4B1 354 1 561 166 0.228335625859697 TRUE TRUE ENSG00000047410.14 . BCM GRCh38.p13 chr1 186362953 186362953 + T T C Missense_Mutation SNP ENST00000367478.9 exon6 c.A580G p.N194D exonic ENSG00000047410.14 . nonsynonymous SNV ENSG00000047410.14:ENST00000367478.9:exon6:c.A580G:p.N194D 1q31.1 C3N-03039 . . . . . . . . . 9.20 D T P B D D M T N 0.534 T T T 0.112 0.374 0.563 0.515 D T T T D D 3.155 23.800 0.997 D D 0.568 5.612 0.579 5.969 1.000 0.732 0.744 0.725 0.728 . 5.530 5.530 4.700 1.138 0.665 1.000 0.998 0.995 305 . . . . TPR 126 0 245 58 0.191419141914191 TRUE TRUE ENSG00000163793.13 . BCM GRCh38.p13 chr2 27276776 27276776 + G G A Missense_Mutation SNP ENST00000296097.8 exon3 c.G48A p.M16I exonic ENSG00000163793.13 . nonsynonymous SNV ENSG00000163793.13:ENST00000296097.8:exon3:c.G48A:p.M16I 2p23.3 C3N-03039 2.473e-05 0 0.0003 0 0 0 0 0 rs200578672 1.20 D T B B N N N T N 0.118 T T T 0.015 . 0.067 0.078 T T T T T T -0.644 0.058 0.692 N N -1.403 0.115 -1.460 0.124 0.039 0.554 0.590 0.602 0.530 . 4.350 -4.320 -1.267 -2.780 -1.761 0.000 0.000 0.001 162 DnaJ_domain . . . DNAJC5G 228 0 339 93 0.215277777777778 TRUE NA ENSG00000135916.16 . BCM GRCh38.p13 chr2 230873465 230873465 + G G A Missense_Mutation SNP ENST00000326427.11 exon2 c.G169A p.G57S exonic ENSG00000135916.16 . nonsynonymous SNV ENSG00000135916.16:ENST00000326427.11:exon2:c.G169A:p.G57S 2q37.1 C3N-03039 9.951e-05 9.713e-05 0 0.0001 0 1.507e-05 0 0.0006 rs201325357 2.20 T T P B N D N T N 0.219 T T T 0.075 0.475 0.200 0.252 T T T T T T 1.535 15.960 0.974 D N -0.485 1.207 -0.441 1.300 1.000 0.672 0.522 0.702 0.655 . 4.850 0.179 2.252 1.176 0.676 1.000 0.954 0.252 639 . . . . ITM2C 79 0 140 24 0.146341463414634 TRUE NA ENSG00000145147.20 . BCM GRCh38.p13 chr4 20553952 20553952 + A A T Missense_Mutation SNP ENST00000504154.6 exon26 c.A2709T p.K903N exonic ENSG00000145147.20 . nonsynonymous SNV ENSG00000145147.20:ENST00000504154.6:exon26:c.A2709T:p.K903N 4p15.31 C3N-03039 . . . . . . . . . 8.20 T T B B D D L D N 0.593 T T D 0.270 0.530 0.658 1.134 D T T T T D 2.656 22.700 0.998 D D -0.062 2.299 0.013 2.404 0.998 0.706 0.574 0.659 0.613 . 5.270 2.850 2.904 1.312 0.691 1.000 1.000 0.997 818 Cysteine-rich_flanking_region,_C-terminal . . . SLIT2 84 0 108 24 0.181818181818182 TRUE TRUE ENSG00000145642.12 . BCM GRCh38.p13 chr5 64690678 64690678 + G G T Missense_Mutation SNP ENST00000389074.6 exon1 c.G55T p.V19L exonic ENSG00000145642.12 . nonsynonymous SNV ENSG00000145642.12:ENST00000389074.6:exon1:c.G55T:p.V19L 5q12.3 C3N-03039 0 0 0 0 0 0 0 0 rs747037670 9.17 D D . . D D . T N 0.367 T T D 0.275 0.707 0.277 0.511 T T D T D T 4.224 28.900 0.998 D D 0.532 5.291 0.590 6.096 1.000 0.447 0.563 0.504 0.555 . 4.950 4.950 7.000 1.097 0.586 1.000 1.000 0.999 614 . . . . SHISAL2B 98 0 106 20 0.158730158730159 TRUE NA ENSG00000164199.18 . BCM GRCh38.p13 chr5 90811189 90811189 + G G A Missense_Mutation SNP ENST00000405460.9 exon74 c.G15929A p.R5310H exonic ENSG00000164199.18 . nonsynonymous SNV ENSG00000164199.18:ENST00000405460.9:exon74:c.G15929A:p.R5310H 5q14.3 C3N-03039 5.138e-05 0.0001 0 0.0001 0 1.546e-05 0 0.0002 rs368944647 0.19 T T B B N N . T N 0.038 T T T 0.082 . 0.067 0.056 T T T T T T 0.670 8.177 0.806 N N -1.299 0.165 -1.368 0.168 0.009 0.706 0.588 0.710 0.564 . 5.470 -6.140 -0.352 -0.628 -0.135 0.000 0.512 0.847 769 Na-Ca_exchanger/integrin-beta4 . . ID=COSV67987823;OCCURENCE=1(upper_aerodigestive_tract) ADGRV1 133 1 186 41 0.180616740088106 TRUE TRUE ENSG00000146038.12 . BCM GRCh38.p13 chr6 24278177 24278177 + G G A Missense_Mutation SNP ENST00000378454.8 exon7 c.C794T p.S265F exonic ENSG00000146038.12 . nonsynonymous SNV ENSG00000146038.12:ENST00000378454.8:exon7:c.C794T:p.S265F 6p22.3 C3N-03039 . . . . . . . . . 8.20 D D D P D D M T N 0.271 T T T 0.093 0.228 0.563 0.258 T T T T D T 2.950 23.300 0.998 D N 0.326 3.915 0.275 3.575 0.186 0.554 0.590 0.602 0.613 . 4.650 3.750 2.744 1.176 0.676 1.000 0.949 0.778 834 . . . ID=COSV65830728;OCCURENCE=1(skin) DCDC2 116 0 118 49 0.293413173652695 TRUE TRUE ENSG00000047932.14 . BCM GRCh38.p13 chr6 117602129 117602129 + C C T Missense_Mutation SNP ENST00000368498.7 exon1 c.G160A p.E54K exonic ENSG00000047932.14 . nonsynonymous SNV ENSG00000047932.14:ENST00000368498.7:exon1:c.G160A:p.E54K 6q22.1 C3N-03039 . . . . . . . . . 11.19 D D D P D D M T N 0.913 T T D 0.164 0.389 0.353 1.284 . T T T D D 4.291 29.500 0.999 D D 0.664 6.644 0.650 6.918 1.000 0.442 0.522 0.522 0.562 . 5.710 4.840 7.336 1.026 0.599 1.000 1.000 0.995 809 . . . . GOPC 404 0 422 149 0.260945709281961 TRUE TRUE ENSG00000164880.16 . BCM GRCh38.p13 chr7 1499082 1499082 + C C T Missense_Mutation SNP ENST00000404767.8 exon8 c.G1030A p.D344N exonic ENSG00000164880.16 . nonsynonymous SNV ENSG00000164880.16:ENST00000404767.8:exon8:c.G1030A:p.D344N 7p22.3 C3N-03039 . . . . . . . . . 13.20 D D D D D D M T D 0.800 T T T 0.174 . 0.369 . T D T T D D 3.433 24.500 0.999 D D 0.771 8.235 0.732 8.390 1.000 0.632 0.698 0.723 0.563 . 5.280 5.280 7.721 1.022 0.594 1.000 0.993 0.974 817 . . . . INTS1 253 0 384 83 0.177730192719486 TRUE TRUE ENSG00000105997.22 . BCM GRCh38.p13 chr7 27110211 27110211 + G G A Missense_Mutation SNP ENST00000612286.4 exon3 c.C430T p.P144S exonic ENSG00000105997.22 . nonsynonymous SNV ENSG00000105997.22:ENST00000612286.4:exon3:c.C430T:p.P144S 7p15.2 C3N-03039 8.247e-06 0 0 0.0001 0 0 0 0 rs375062129 2.20 T T B B N D L T N 0.332 T T T 0.052 0.254 0.330 0.973 T T T T T T 2.009 19.330 0.841 D N -0.418 1.343 -0.161 1.882 1.000 0.490 0.547 0.596 0.662 . 5.830 4.950 2.884 1.176 0.676 1.000 1.000 0.991 422 . . . . HOXA3 276 0 359 124 0.256728778467909 TRUE NA ENSG00000106348.18 . BCM GRCh38.p13 chr7 128401085 128401085 + G G A Missense_Mutation SNP ENST00000338791.11 exon6 c.C434T p.T145M exonic ENSG00000106348.18 . nonsynonymous SNV ENSG00000106348.18:ENST00000338791.11:exon6:c.C434T:p.T145M 7q32.1 C3N-03039 2.483e-05 0 0 0 0 3.01e-05 0 6.063e-05 rs750159508 15.20 D T P B D D M T D 0.819 D T D 0.619 0.357 0.930 0.848 D D D D D D 3.425 24.500 0.996 D D 0.490 4.962 0.558 5.735 1.000 0.719 0.723 0.644 0.714 . 4.950 4.950 9.945 1.176 0.676 1.000 0.975 0.939 480 IMP_dehydrogenase/GMP_reductase . . . IMPDH1 482 0 718 219 0.233724653148346 TRUE NA ENSG00000164741.15 . BCM GRCh38.p13 chr8 13401535 13401535 + C C A Nonsense_Mutation SNP ENST00000276297.9 exon3 c.G1108T p.E370X exonic ENSG00000164741.15 . stopgain ENSG00000164741.15:ENST00000276297.9:exon3:c.G1108T:p.E370X 8p22 C3N-03039 . . . . . . . . . 5.6 . . . . D A . . . 0.832 . . . . . . . . . D D . . 8.374 42 0.998 D N 1.133 19.055 0.987 18.057 1.000 0.615 0.574 0.547 0.655 . 5.490 5.490 6.461 1.026 0.599 1.000 0.973 0.923 925 . . . . DLC1 164 0 223 38 0.145593869731801 TRUE TRUE ENSG00000197892.13 . BCM GRCh38.p13 chr8 29071791 29071791 + C C T Missense_Mutation SNP ENST00000524189.6 exon39 c.G5047A p.G1683R exonic ENSG00000197892.13 . nonsynonymous SNV ENSG00000197892.13:ENST00000524189.6:exon39:c.G5047A:p.G1683R 8p12 C3N-03039 . . . . . . . . . 2.18 T T . . N N M T N 0.157 T T D 0.072 . 0.709 0.286 T T T T T T 0.578 7.298 0.889 N N -0.858 0.575 -0.867 0.665 0.999 0.609 0.602 0.769 0.605 . 4.870 3.060 1.331 -0.367 -0.259 0.105 0.001 0.001 643 . . . . KIF13B 404 0 397 142 0.263450834879406 TRUE TRUE ENSG00000165392.11 . BCM GRCh38.p13 chr8 31157425 31157425 + C C G Missense_Mutation SNP ENST00000298139.7 exon33 c.C3877G p.Q1293E exonic ENSG00000165392.11 . nonsynonymous SNV ENSG00000165392.11:ENST00000298139.7:exon33:c.C3877G:p.Q1293E 8p12 C3N-03039 . . . . . . . . . 6.20 T T D P D D M T N 0.544 T T T 0.138 0.423 0.701 0.129 T T T T D T 2.668 22.800 0.798 D N 0.207 3.335 0.195 3.157 1.000 0.732 0.744 0.725 0.714 . 5.620 5.620 4.131 1.026 0.599 0.999 0.797 0.454 951 Helicase_Helix-turn-helix_domain . . . WRN 428 0 612 173 0.220382165605096 TRUE TRUE ENSG00000156471.13 . BCM GRCh38.p13 chr8 96295230 96295230 + A A T Missense_Mutation SNP ENST00000517309.6 exon5 c.A574T p.I192F exonic ENSG00000156471.13 . nonsynonymous SNV ENSG00000156471.13:ENST00000517309.6:exon5:c.A574T:p.I192F 8q22.1 C3N-03039 . . . . . . . . . 14.20 D T P P D D M T D 0.803 T T D 0.583 0.681 0.499 2.089 D D D D D D 4.070 27.500 0.988 D D 0.681 6.856 0.657 7.016 1.000 0.706 0.725 0.710 0.714 . 4.710 4.710 9.246 1.312 0.756 1.000 1.000 0.999 851 . . . . PTDSS1 89 0 146 35 0.193370165745856 TRUE TRUE ENSG00000132549.18 . BCM GRCh38.p13 chr8 99853822 99853822 + T T G Missense_Mutation SNP ENST00000358544.6 exon56 c.T10508G p.I3503S exonic ENSG00000132549.18 . nonsynonymous SNV ENSG00000132549.18:ENST00000358544.6:exon56:c.T10508G:p.I3503S 8q22.2 C3N-03039 . . . . . . . . . 12.20 D D D P N D M T N 0.791 T T D 0.428 0.545 0.922 0.269 T T D D D D 3.748 25.600 0.990 D D 0.464 4.768 0.509 5.241 1.000 0.707 0.725 0.659 0.636 . 5.670 5.670 7.255 1.138 0.665 1.000 0.988 0.950 465 . . . . VPS13B 384 0 592 160 0.212765957446809 TRUE TRUE ENSG00000129292.20 . BCM GRCh38.p13 chr8 132817447 132817447 + G G A Missense_Mutation SNP ENST00000395386.6 exon12 c.G1481A p.R494H exonic ENSG00000129292.20 . nonsynonymous SNV ENSG00000129292.20:ENST00000395386.6:exon12:c.G1481A:p.R494H 8q24.22 C3N-03039 0.0002 0.0023 8.812e-05 0.0005 0 1.506e-05 0 0 rs35409494 1.19 T T B B . D N T N 0.122 T T T 0.039 . 0.123 0.346 T T T T T T -0.012 1.260 0.147 N N -0.993 0.411 -0.875 0.654 0.935 0.707 0.634 0.725 0.714 . 4.840 1.150 -0.659 0.326 -0.092 0.009 0.942 0.990 876 . . . ID=COSV55190002;OCCURENCE=1(large_intestine) PHF20L1 257 0 424 102 0.193916349809886 TRUE TRUE ENSG00000165113.13 . BCM GRCh38.p13 chr9 83739711 83739711 + C C T Missense_Mutation SNP ENST00000376371.7 exon13 c.G1087A p.D363N exonic ENSG00000165113.13 . nonsynonymous SNV ENSG00000165113.13:ENST00000376371.7:exon13:c.G1087A:p.D363N 9q21.32 C3N-03039 . . . . . . . . rs554092166 5.19 D T B B D D N . N 0.228 T T T 0.118 0.226 0.283 0.085 T T T T T D 2.405 22.100 0.997 D N 0.015 2.566 0.190 3.136 0.847 0.638 0.670 0.653 0.668 . 6.170 5.280 3.091 1.026 0.599 1.000 0.990 0.994 972 . . . ID=COSV64487280;OCCURENCE=1(soft_tissue) GKAP1 161 0 189 57 0.231707317073171 TRUE NA ENSG00000122877.16 . BCM GRCh38.p13 chr10 62813470 62813470 + G G A Missense_Mutation SNP ENST00000242480.4 exon2 c.C1168T p.R390C exonic ENSG00000122877.16 . nonsynonymous SNV ENSG00000122877.16:ENST00000242480.4:exon2:c.C1168T:p.R390C 10q21.3 C3N-03039 . . . . . . . . . 17.20 D D D D D D M T D 0.834 T T D 0.632 0.797 0.788 2.275 D D D D D D 4.796 33 0.999 D D 0.955 12.555 0.876 12.777 1.000 0.765 0.686 0.732 0.479 . 5.020 5.020 9.986 1.176 0.676 1.000 1.000 0.997 874 Zinc_finger_C2H2-type . . . EGR2 244 0 413 55 0.117521367521368 TRUE TRUE ENSG00000171798.18 . BCM GRCh38.p13 chr10 133211763 133211763 + G G A Missense_Mutation SNP ENST00000304613.8 exon23 c.G4141A p.G1381S exonic ENSG00000171798.18 . nonsynonymous SNV ENSG00000171798.18:ENST00000304613.8:exon23:c.G4141A:p.G1381S 10q26.3 C3N-03039 0.0001 0 0.0002 0 0 9.211e-05 0 0.0005 rs773807341 1.19 T T B B N N . T N 0.094 T T T 0.034 0.180 0.040 0.185 T T T T D T 0.167 2.753 0.563 N N -1.784 0.025 -1.825 0.030 0.014 0.696 0.547 0.723 0.563 . 3.340 -2.440 -1.408 0.127 -0.207 0.000 0.013 0.001 990 . . . ID=COSV100465233;OCCURENCE=1(cervix) KNDC1 176 0 290 75 0.205479452054795 TRUE NA ENSG00000226288.2 . BCM GRCh38.p13 chr11 4587440 4587440 + G G A Missense_Mutation SNP ENST00000312614.4 exon1 c.G628A p.E210K exonic ENSG00000226288.2 . nonsynonymous SNV ENSG00000226288.2:ENST00000312614.4:exon1:c.G628A:p.E210K 11p15.4 C3N-03039 0.0002 0 0.0008 0 0 0.0001 0 0.0002 rs753185432 10.20 D D D D D D H T D 0.614 T T T 0.392 0.560 0.506 0.767 T T T T D T 3.422 24.500 0.999 D N 0.709 7.244 0.605 6.283 1.000 0.554 0.590 0.618 0.542 . 4.180 4.180 2.769 1.165 0.590 1.000 0.996 0.939 851 GPCR,_rhodopsin-like,_7TM . . ID=COSV57044357;OCCURENCE=1(large_intestine) OR52I2 279 0 490 80 0.140350877192982 NA TRUE ENSG00000175097.8 . BCM GRCh38.p13 chr11 36593516 36593516 + A A G Missense_Mutation SNP ENST00000311485.8 exon2 c.T653C p.I218T exonic ENSG00000175097.8 . nonsynonymous SNV ENSG00000175097.8:ENST00000311485.8:exon2:c.T653C:p.I218T 11p12 C3N-03039 . . . . . . . . . 16.19 D D D P D D M T D 0.819 D D D 0.827 0.715 0.943 0.454 T D D D D D 3.779 25.700 0.997 D . 0.849 9.823 0.797 10.036 1.000 0.497 0.563 0.547 0.542 . 5.700 5.700 8.947 1.312 0.756 1.000 0.998 0.971 367 . . . . RAG2 379 0 554 135 0.195936139332366 TRUE TRUE ENSG00000172188.5 . BCM GRCh38.p13 chr11 55603606 55603606 + A A T Nonsense_Mutation SNP ENST00000641580.1 exon4 c.T768A p.Y256X exonic ENSG00000172188.5 . stopgain ENSG00000172188.5:ENST00000641580.1:exon4:c.T768A:p.Y256X 11q11 C3N-03039 . . . . . . . . . 3.6 . . . . U D . . . 0.051 . . . . . . . . . D D . . 2.867 23.100 0.934 N N -0.409 1.364 -0.784 0.780 0.000 0.487 0.574 0.574 0.564 . 4.340 -2.780 -0.270 0.157 -0.126 0.000 0.026 0.008 153 GPCR,_rhodopsin-like,_7TM . . . OR4C11 223 0 338 76 0.183574879227053 TRUE TRUE ENSG00000173898.13 . BCM GRCh38.p13 chr11 66708228 66708228 + C C A Missense_Mutation SNP ENST00000533211.5 exon12 c.G1263T p.E421D exonic ENSG00000173898.13 . nonsynonymous SNV ENSG00000173898.13:ENST00000533211.5:exon12:c.G1263T:p.E421D 11q13.2 C3N-03039 . . . . . . . . . 17.20 D D D D D D H T D 0.657 D D D 0.690 0.504 0.916 1.782 T D D T D D 3.806 25.900 0.997 D D 0.777 8.341 0.663 7.108 1.000 0.672 0.610 0.702 0.655 . 4.620 3.680 3.341 0.947 0.599 1.000 1.000 0.998 233 . . . . SPTBN2 116 0 286 58 0.168604651162791 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-03039 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 240 0 421 101 0.193486590038314 TRUE TRUE ENSG00000174243.10 . BCM GRCh38.p13 chr12 48837015 48837015 + G G A Nonsense_Mutation SNP ENST00000308025.8 exon9 c.C889T p.Q297X exonic ENSG00000174243.10 . stopgain ENSG00000174243.10:ENST00000308025.8:exon9:c.C889T:p.Q297X 12q13.12 C3N-03039 . . . . . . . . . 5.6 . . . . D A . . . 0.520 . . . . . . . . . D D . . 7.207 37 0.998 D N 1.189 22.729 1.056 22.826 1.000 0.707 0.702 0.702 0.714 . 5.690 5.690 9.852 1.176 0.676 1.000 0.997 0.986 578 . . . . DDX23 128 0 268 93 0.257617728531856 TRUE TRUE ENSG00000139329.5 . BCM GRCh38.p13 chr12 91104193 91104193 + C C T Missense_Mutation SNP ENST00000266718.5 exon3 c.G989A p.R330H exonic ENSG00000139329.5 . nonsynonymous SNV ENSG00000139329.5:ENST00000266718.5:exon3:c.G989A:p.R330H 12q21.33 C3N-03039 . . . . . . . . . 15.20 D D D D D D M T D 0.629 T T D 0.336 0.431 0.617 1.315 T D D T D D 4.124 28.000 1.000 D D 0.728 7.525 0.668 7.190 1.000 0.487 0.547 0.574 0.564 . 5.180 5.180 7.042 1.008 0.549 1.000 0.999 0.957 892 . . . ID=COSV57127852;OCCURENCE=1(endometrium) LUM 143 0 230 70 0.233333333333333 TRUE TRUE ENSG00000152213.4 . BCM GRCh38.p13 chr13 49630637 49630637 + G G A Missense_Mutation SNP ENST00000282026.2 exon2 c.G190A p.V64I exonic ENSG00000152213.4 . nonsynonymous SNV ENSG00000152213.4:ENST00000282026.2:exon2:c.G190A:p.V64I 13q14.2 C3N-03039 0.0002 0.0024 0 0 0 1.5e-05 0.0011 0 rs143660006 0.20 T T B B N N L T N 0.060 T T T 0.070 . 0.271 0.147 T T T T T T 0.473 6.217 0.964 N N -0.855 0.579 -0.823 0.725 1.000 0.651 0.709 0.565 0.620 . 5.310 0.498 0.769 -0.514 -0.119 0.487 0.071 0.519 414 Small_GTP-binding_protein_domain . . ID=COSV56290987;OCCURENCE=1(large_intestine) ARL11 279 0 350 113 0.244060475161987 TRUE TRUE ENSG00000178235.8 . BCM GRCh38.p13 chr13 83880531 83880531 + G G A Missense_Mutation SNP ENST00000377084.3 exon1 c.C977T p.A326V exonic ENSG00000178235.8 . nonsynonymous SNV ENSG00000178235.8:ENST00000377084.3:exon1:c.C977T:p.A326V 13q31.1 C3N-03039 . . . . . . . . . 5.20 T T B B D D L T N 0.200 T T T 0.031 0.395 0.294 0.431 T T T T D T 2.186 20.800 0.908 D D -0.368 1.454 -0.168 1.864 1.000 0.658 0.547 0.619 0.564 . 4.850 4.000 6.438 1.176 0.676 1.000 0.988 0.996 973 . . . ID=COSV65675004;OCCURENCE=1(large_intestine),1(endometrium) SLITRK1 192 0 289 43 0.129518072289157 TRUE TRUE ENSG00000254585.5 . BCM GRCh38.p13 chr15 23646983 23646983 + C C G Missense_Mutation SNP ENST00000650528.1 exon1 c.G760C p.A254P exonic ENSG00000254585.5 . nonsynonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.G760C:p.A254P 15q11.2 C3N-03039 . . . . . . . . . 1.10 D T . . . . . T N 0.271 . . . . . 0.275 . T T T T . T 0.901 10.450 0.566 N . . . . . 0.990 0.207 0.063 0.209 0.079 0.069 3.030 1.100 -0.097 0.078 -0.458 0.000 0.654 0.195 988 . . . . MAGEL2 199 0 292 90 0.235602094240838 TRUE TRUE ENSG00000103995.14 . BCM GRCh38.p13 chr15 48797331 48797331 + T T A Missense_Mutation SNP ENST00000380950.7 exon5 c.A510T p.K170N exonic ENSG00000103995.14 . nonsynonymous SNV ENSG00000103995.14:ENST00000380950.7:exon5:c.A510T:p.K170N 15q21.1 C3N-03039 . . . . . . . . . 0.20 T T B B N N L T N 0.227 T T T 0.182 0.283 0.608 0.074 T T T T T T 0.612 7.633 0.809 N N -1.379 0.126 -1.289 0.216 1.000 0.706 0.576 0.710 0.696 . 4.680 -0.255 -0.242 -0.636 -0.194 0.035 0.853 0.966 242 . . . . CEP152 182 0 312 71 0.185378590078329 TRUE TRUE ENSG00000074755.15 . BCM GRCh38.p13 chr17 4013573 4013573 + C C A Missense_Mutation SNP ENST00000381638.7 exon52 c.G8455T p.V2819L exonic ENSG00000074755.15 . nonsynonymous SNV ENSG00000074755.15:ENST00000381638.7:exon52:c.G8455T:p.V2819L 17p13.2 C3N-03039 . . . . . . . . . 1.20 T T B B N N N T N 0.129 T T T 0.080 0.194 0.068 0.149 T T T T T T 1.367 14.860 0.925 D N -0.330 1.541 -0.105 2.032 0.617 0.732 0.725 0.744 0.711 . 5.920 3.850 1.135 1.026 0.599 0.720 0.994 0.978 200 . . . . ZZEF1 147 0 175 83 0.321705426356589 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673802 7673802 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G818A p.R273H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G818A:p.R273H 17p13.1 C3N-03039 2.628e-05 0 0 0 0 4.746e-05 0 0 rs28934576 19.20 D D D D D A M D D 0.965 D D D 0.868 . 0.997 0.264 T D D D D D 3.527 24.800 0.998 D D 0.383 4.238 0.333 3.915 1.000 0.722 0.702 0.725 0.735 . 4.920 4.920 7.905 1.022 0.596 1.000 0.856 0.980 432 p53,_DNA-binding_domain . . ID=COSV52660980;OCCURENCE=3(salivary_gland),135(breast),5(penis),9(liver),2(genital_tract),55(oesophagus),3(adrenal_gland),1(cervix),301(large_intestine),84(central_nervous_system),18(biliary_tract),1(fallopian_tube),1(pleura),4(vulva),73(ovary),8(bone),6(NS),57(haematopoietic_and_lymphoid_tissue),60(stomach),23(urinary_tract),7(soft_tissue),9(kidney),55(pancreas),15(skin),22(prostate),111(lung),11(thyroid),66(upper_aerodigestive_tract),2(thymus),41(endometrium) TP53 520 0 590 212 0.264339152119701 TRUE TRUE ENSG00000109072.14 . BCM GRCh38.p13 chr17 28369012 28369012 + C C T Missense_Mutation SNP ENST00000226218.9 exon5 c.G686A p.R229H exonic ENSG00000109072.14 . nonsynonymous SNV ENSG00000109072.14:ENST00000226218.9:exon5:c.G686A:p.R229H 17q11.2 C3N-03039 8.331e-06 9.634e-05 0 0 0 0 0 0 rs782268632 14.20 D D D D D D H T D 0.810 T T D 0.426 0.775 0.449 0.888 T T T D D D 4.350 30 0.999 D D 1.096 17.341 1.002 18.957 1.000 0.421 0.551 0.537 0.613 . 5.740 5.740 7.560 1.016 0.587 1.000 1.000 0.998 127 Hemopexin-like_domain . . ID=COSV56873113;OCCURENCE=1(stomach) VTN 79 0 154 35 0.185185185185185 TRUE TRUE ENSG00000126562.17 . BCM GRCh38.p13 chr17 42785453 42785453 + G G A Missense_Mutation SNP ENST00000246914.10 exon6 c.G1447A p.D483N exonic ENSG00000126562.17 . nonsynonymous SNV ENSG00000126562.17:ENST00000246914.10:exon6:c.G1447A:p.D483N 17q21.2 C3N-03039 . . . . . . . . . 11.20 D D D D N D L T D 0.587 T T D 0.428 0.415 0.941 0.630 T T T T D D 4.497 32 0.999 D D 0.641 6.364 0.642 6.790 1.000 0.583 0.457 0.578 0.621 . 5.020 5.020 9.999 1.176 0.618 1.000 0.994 0.991 239 Serine/threonine-protein_kinase_OSR1/WNK,_CCT_domain . . . WNK4 325 0 475 139 0.226384364820847 TRUE TRUE ENSG00000091583.11 . BCM GRCh38.p13 chr17 66226079 66226079 + C C T Missense_Mutation SNP ENST00000205948.11 exon3 c.G287A p.R96H exonic ENSG00000091583.11 . nonsynonymous SNV ENSG00000091583.11:ENST00000205948.11:exon3:c.G287A:p.R96H 17q24.2 C3N-03039 1.652e-05 0 0 0 0 3.007e-05 0 0 rs138847585 4.20 T T B B N D N T N 0.312 T T T 0.065 . 0.368 0.240 T T T T T D 2.628 22.700 0.983 D D -0.152 2.017 0.047 2.526 1.000 0.487 0.574 0.574 0.530 . 5.550 4.570 1.270 1.008 0.599 0.994 1.000 0.995 840 Sushi/SCR/CCP_domain . . . APOH 116 0 156 30 0.161290322580645 TRUE NA ENSG00000075643.6 . BCM GRCh38.p13 chr18 36203150 36203150 + G G A Missense_Mutation SNP ENST00000261326.6 exon5 c.G979A p.A327T exonic ENSG00000075643.6 . nonsynonymous SNV ENSG00000075643.6:ENST00000261326.6:exon5:c.G979A:p.A327T 18q12.2 C3N-03039 5.766e-05 0 0 0 0 7.492e-05 0.0011 6.057e-05 rs199870151 15.20 D D D P D D H D N 0.786 D D T 0.635 . 0.978 0.429 T T D D D D 3.419 24.500 0.999 D D 0.658 6.568 0.517 5.321 1.000 0.706 0.547 0.710 0.595 . 5.670 5.670 6.524 1.176 0.676 1.000 0.041 0.028 864 Aminotransferase_class_V_domain . . ID=COSV54341205;OCCURENCE=1(endometrium) MOCOS 448 0 566 104 0.155223880597015 TRUE TRUE ENSG00000257704.4 . BCM GRCh38.p13 chr19 47275140 47275140 + C C G Missense_Mutation SNP ENST00000552360.4 exon1 c.C221G p.P74R exonic ENSG00000257704.4 . nonsynonymous SNV ENSG00000257704.4:ENST00000552360.4:exon1:c.C221G:p.P74R 19q13.32 C3N-03039 . . . . . . . . . 2.17 D T B B . N . . N 0.082 T T D 0.021 0.210 0.110 . T T T T T T 0.681 8.280 0.831 N N -0.775 0.692 -0.810 0.744 1.000 0.652 0.484 0.641 0.492 . 2.780 1.710 0.485 -0.320 -1.063 0.000 0.038 0.009 721 . . . . INAFM1 255 0 362 93 0.204395604395604 TRUE TRUE ENSG00000088053.11 . BCM GRCh38.p13 chr19 55014974 55014974 + C C T Missense_Mutation SNP ENST00000417454.5 exon8 c.G967A p.G323R exonic ENSG00000088053.11 . nonsynonymous SNV ENSG00000088053.11:ENST00000417454.5:exon8:c.G967A:p.G323R 19q13.42 C3N-03039 0.0026 0.0282 0.0014 0.0019 0.0002 0.0001 0.0011 0 rs80348265 2.15 D D B B . N . T N 0.177 T T . 0.019 . 0.136 0.579 T . T T T . 0.841 9.806 0.893 N N -1.175 0.245 -1.319 0.197 1.000 0.487 0.574 0.514 0.649 . 2.250 -1.900 -0.449 -0.834 -0.845 0.000 0.000 0.000 976 . . . . GP6 507 0 486 74 0.132142857142857 TRUE NA ENSG00000179709.8 . BCM GRCh38.p13 chr19 55955340 55955340 + G G A Missense_Mutation SNP ENST00000291971.7 exon3 c.G1282A p.V428I exonic ENSG00000179709.8 . nonsynonymous SNV ENSG00000179709.8:ENST00000291971.7:exon3:c.G1282A:p.V428I 19q13.43 C3N-03039 8.238e-06 0 0 0 0 1.499e-05 0 0 rs759351908 1.19 T T P B . N N D N 0.023 T T T 0.236 0.567 0.288 0.064 T T T T T T 0.605 7.564 0.527 N N -1.094 0.312 -1.280 0.223 0.000 0.487 0.574 0.547 0.564 . 1.780 -1.960 -0.171 -0.737 -0.227 0.000 0.009 0.012 946 . . . ID=COSV52585627;OCCURENCE=1(adrenal_gland),2(large_intestine),2(stomach),1(soft_tissue),1(kidney),2(upper_aerodigestive_tract) NLRP8 289 0 491 143 0.225552050473186 TRUE TRUE ENSG00000183579.16 . BCM GRCh38.p13 chr22 28883969 28883969 + C C G Missense_Mutation SNP ENST00000544604.7 exon1 c.C203G p.S68W exonic ENSG00000183579.16 . nonsynonymous SNV ENSG00000183579.16:ENST00000544604.7:exon1:c.C203G:p.S68W 22q12.1 C3N-03039 . . . . . . . . . 8.17 D D . . . D N T N 0.465 T T D 0.126 0.395 0.043 1.358 D T T T D D 3.368 24.300 0.987 D N -0.046 2.351 -0.048 2.201 1.000 0.437 0.607 0.520 0.619 . 2.930 1.800 4.385 -0.079 0.354 1.000 0.888 0.992 463 . . . . ZNRF3 265 0 341 92 0.212471131639723 TRUE TRUE ENSG00000188408.5 . BCM GRCh38.p13 chrX 26217519 26217519 + G G A Missense_Mutation SNP ENST00000602297.1 exon2 c.G218A p.R73K exonic ENSG00000188408.5 . nonsynonymous SNV ENSG00000188408.5:ENST00000602297.1:exon2:c.G218A:p.R73K Xp21.3 C3N-03039 . . . . . . . . . 0.15 . T . . N N N T . 0.093 T T T 0.016 . 0.040 0.045 T T T T T T -1.042 0.006 0.409 N . . . . . 0.044 . . . . . 4.060 -7.710 -0.337 -0.280 -0.940 0.000 0.000 0.000 719 MAGE_homology_domain . . . MAGEB5 135 0 278 42 0.13125 TRUE TRUE ENSG00000189037.8 . BCM GRCh38.p13 chrX 44844647 44844647 + C C T Missense_Mutation SNP ENST00000339042.6 exon1 c.C515T p.P172L exonic ENSG00000189037.8 . nonsynonymous SNV ENSG00000189037.8:ENST00000339042.6:exon1:c.C515T:p.P172L Xp11.3 C3N-03039 2.333e-05 0 0.0002 0 0 0 0 0 . 6.19 D T P B N N M T D 0.135 T T D 0.159 0.482 0.305 0.620 T T T T D T 1.592 16.320 0.933 D . . . . . 1.000 . . . . . 3.950 -0.109 4.976 -0.268 -0.171 0.976 0.005 0.036 654 . . . . DUSP21 110 0 207 39 0.158536585365854 TRUE NA ENSG00000147162.14 . BCM GRCh38.p13 chrX 71537960 71537960 + G G A Missense_Mutation SNP ENST00000373719.8 exon3 c.G350A p.R117H exonic ENSG00000147162.14 . nonsynonymous SNV ENSG00000147162.14:ENST00000373719.8:exon3:c.G350A:p.R117H Xq13.1 C3N-03039 . . . . . . . . . 11.19 D D D P D D L T D 0.565 T T D 0.308 0.393 0.817 1.868 D T T T D D 3.540 24.800 0.999 D . . . . . 1.000 . . . . . 4.860 4.860 9.620 1.176 0.672 1.000 1.000 0.998 218 Tetratricopeptide_repeat-containing_domain . . ID=COSV65480952;OCCURENCE=1(breast),1(large_intestine),1(pancreas) OGT 302 0 423 109 0.204887218045113 TRUE TRUE ENSG00000147234.10 . BCM GRCh38.p13 chrX 107563177 107563177 + G G A Missense_Mutation SNP ENST00000276185.8 exon12 c.G1192A p.V398I exonic ENSG00000147234.10 . nonsynonymous SNV ENSG00000147234.10:ENST00000276185.8:exon12:c.G1192A:p.V398I Xq22.3 C3N-03039 . . . . . . . . . 5.16 T T . . D N N T N 0.344 T T D 0.326 0.498 0.927 2.054 . T T T D D 2.179 20.700 0.990 D . . . . . 1.000 . . . . . 5.870 5.000 4.513 1.176 0.676 1.000 0.995 0.997 30 0.000 . . . FRMPD3 193 0 326 63 0.161953727506427 TRUE TRUE ENSG00000038210.14 . BCM GRCh38.p13 chr4 25256541 25256541 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000038210.14 ENST00000264864.8:exon4:c.625-2A>G . . 4p15.2 C3N-03039 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.601 34 0.996 D . 1.200 23.665 1.066 23.615 1.000 0.295 0.304 0.060 0.110 0.983 6.070 6.070 9.169 1.312 0.750 1.000 1.000 0.958 659 . . . . PI4K2B 62 0 128 40 0.238095238095238 TRUE TRUE ENSG00000106799.13 . BCM GRCh38.p13 chr9 99146483 99146483 + A A T Splice_Site SNP NA NA NA NA splicing ENSG00000106799.13 ENST00000374994.9:exon7:c.1131-2A>T . . 9q22.33 C3N-03039 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.515 34 0.995 D . 1.147 19.829 1.000 18.845 1.000 0.156 0.156 0.121 0.088 0.975 5.430 5.430 9.325 1.312 0.691 1.000 1.000 0.996 475 . . . . TGFBR1 391 0 431 174 0.287603305785124 NA TRUE ENSG00000120332.16 . BCM GRCh38.p13 chr1 175097673 175097673 + C C T Silent SNP ENST00000239462.9 exon8 c.C1845T p.N615N exonic ENSG00000120332.16 . synonymous SNV ENSG00000120332.16:ENST00000239462.9:exon8:c.C1845T:p.N615N 1q25.1 C3N-03039 0.0002 9.771e-05 0.0002 0.0002 0 0.0001 0.0011 0.0005 rs564187493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53437634;OCCURENCE=1(liver),1(endometrium) TNN 233 0 328 169 0.340040241448692 TRUE TRUE ENSG00000153230.4 . BCM GRCh38.p13 chr1 247738719 247738719 + G G A Silent SNP ENST00000283225.2 exon1 c.G105A p.T35T exonic ENSG00000153230.4 . synonymous SNV ENSG00000153230.4:ENST00000283225.2:exon1:c.G105A:p.T35T 1q44 C3N-03039 0.0001 0 0 0.0015 0 0 0 0 rs560139926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR14K1 164 0 305 132 0.302059496567506 TRUE NA ENSG00000135632.12 . BCM GRCh38.p13 chr2 73218920 73218920 + G G A Silent SNP ENST00000389501.9 exon2 c.G156A p.R52R exonic ENSG00000135632.12 . synonymous SNV ENSG00000135632.12:ENST00000389501.9:exon2:c.G156A:p.R52R 2p13.2 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMYD5 218 0 425 97 0.185823754789272 TRUE TRUE ENSG00000134352.20 . BCM GRCh38.p13 chr5 55957242 55957242 + A A C Silent SNP ENST00000381298.7 exon9 c.T1023G p.T341T exonic ENSG00000134352.20 . synonymous SNV ENSG00000134352.20:ENST00000381298.7:exon9:c.T1023G:p.T341T 5q11.2 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL6ST 80 0 139 23 0.141975308641975 TRUE TRUE ENSG00000164325.8 . BCM GRCh38.p13 chr5 73173570 73173570 + G G A Silent SNP ENST00000296776.6 exon1 c.G327A p.P109P exonic ENSG00000164325.8 . synonymous SNV ENSG00000164325.8:ENST00000296776.6:exon1:c.G327A:p.P109P 5q13.2 C3N-03039 3.295e-05 0 0 0.0001 0 4.495e-05 0 0 rs770962988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57114477;OCCURENCE=1(breast),1(stomach),1(endometrium) TMEM174 537 0 795 116 0.127332601536773 TRUE TRUE ENSG00000157680.15 . BCM GRCh38.p13 chr7 137407879 137407879 + G G A Silent SNP ENST00000288490.9 exon31 c.C2940T p.D980D exonic ENSG00000157680.15 . synonymous SNV ENSG00000157680.15:ENST00000288490.9:exon31:c.C2940T:p.D980D 7q33 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGKI 132 0 211 31 0.128099173553719 TRUE TRUE ENSG00000198879.12 . BCM GRCh38.p13 chr10 7171919 7171919 + C C T Silent SNP ENST00000397167.5 exon19 c.G2391A p.P797P exonic ENSG00000198879.12 . synonymous SNV ENSG00000198879.12:ENST00000397167.5:exon19:c.G2391A:p.P797P 10p14 C3N-03039 0.0001 0.0007 0 0 0 0 0 0 rs568359802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SFMBT2 48 0 93 20 0.176991150442478 TRUE NA ENSG00000183273.7 . BCM GRCh38.p13 chr12 119523813 119523813 + C C A Silent SNP ENST00000327554.3 exon11 c.C1224A p.L408L exonic ENSG00000183273.7 . synonymous SNV ENSG00000183273.7:ENST00000327554.3:exon11:c.C1224A:p.L408L 12q24.23 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC60 186 1 283 88 0.237196765498652 TRUE TRUE ENSG00000126226.22 . BCM GRCh38.p13 chr13 113184455 113184455 + A A T Silent SNP ENST00000337344.9 exon9 c.T576A p.I192I exonic ENSG00000126226.22 . synonymous SNV ENSG00000126226.22:ENST00000337344.9:exon9:c.T576A:p.I192I 13q34 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCID2 234 0 285 121 0.298029556650246 TRUE TRUE ENSG00000099812.9 . BCM GRCh38.p13 chr19 757435 757435 + C C A Silent SNP ENST00000215582.8 exon2 c.C489A p.G163G exonic ENSG00000099812.9 . synonymous SNV ENSG00000099812.9:ENST00000215582.8:exon2:c.C489A:p.G163G 19p13.3 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MISP 276 0 406 125 0.235404896421846 TRUE TRUE ENSG00000167676.4 . BCM GRCh38.p13 chr19 4512916 4512916 + G G T Silent SNP ENST00000301286.4 exon3 c.C1002A p.A334A exonic ENSG00000167676.4 . synonymous SNV ENSG00000167676.4:ENST00000301286.4:exon3:c.C1002A:p.A334A 19p13.3 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLIN4 333 0 563 131 0.188760806916427 NA TRUE ENSG00000186977.3 . BCM GRCh38.p13 chr21 30502052 30502052 + G G A Silent SNP ENST00000334151.3 exon1 c.C39T p.Y13Y exonic ENSG00000186977.3 . synonymous SNV ENSG00000186977.3:ENST00000334151.3:exon1:c.C39T:p.Y13Y 21q22.11 C3N-03039 0.0003 9.61e-05 0.0003 0 0.0002 0.0004 0.0011 0.0003 rs367860556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61858619;OCCURENCE=2(large_intestine),1(central_nervous_system),2(urinary_tract),1(prostate) KRTAP19-5 441 2 521 133 0.203363914373089 TRUE TRUE ENSG00000223350.2 . BCM GRCh38.p13 chr22 22343253 22343253 + C C T Silent SNP ENST00000427632.2 exon1 c.C30T p.L10L exonic ENSG00000223350.2 . synonymous SNV ENSG00000223350.2:ENST00000427632.2:exon1:c.C30T:p.L10L 22q11.22 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLV9-49 207 0 374 47 0.111638954869359 TRUE NA ENSG00000166707.11 . BCM GRCh38.p13 chrX 104115212 104115212 + C C T Silent SNP ENST00000650639.1 exon3 c.C1101T p.N367N exonic ENSG00000166707.11 . synonymous SNV ENSG00000166707.11:ENST00000650639.1:exon3:c.C1101T:p.N367N Xq22.2 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZCCHC18 202 0 294 75 0.203252032520325 TRUE TRUE ENSG00000164252.13 . BCM GRCh38.p13 chr5 77030433 77030438 + GCTGGA GCTGGA - 5'UTR DEL NA NA NA NA UTR5 ENSG00000164252.13 ENST00000312916.12:c.-334_-329del- . . 5q13.3 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AGGF1 130 0 183 39 0.175675675675676 TRUE NA ENSG00000169919.17 . BCM GRCh38.p13 chr7 65975950 65975950 + C C T Intron SNP NA NA NA NA intronic ENSG00000169919.17 . . . 7q11.21 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GUSB 31 0 85 13 0.13265306122449 TRUE NA ENSG00000181800.6 . BCM GRCh38.p13 chr10 11318868 11318868 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000181800.6 . . . 10p14 C3N-03039 0.0002 0 0 0 0 0 0 0.0004 rs766318093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CELF2-AS1 347 0 557 146 0.207681365576102 TRUE NA ENSG00000241749.4 . BCM GRCh38.p13 chr12 65758428 65758428 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000241749.4 . . . 12q14.3 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPSAP52 199 1 338 86 0.202830188679245 TRUE NA ENSG00000279640.1 . BCM GRCh38.p13 chr12 132104245 132104245 + C C A IGR SNP NA NA NA NA intergenic ENSG00000279640.1;ENSG00000185684.15 dist=3425;dist=13901 . . 12q24.33 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC138466.5 210 0 333 82 0.197590361445783 TRUE NA ENSG00000105426.17 . BCM GRCh38.p13 chr19 5257432 5257432 + G G A Intron SNP NA NA NA NA intronic ENSG00000105426.17 . . . 19p13.3 C3N-03039 7.931e-05 0.0017 0 0 0 0 0 0 rs753048666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRS 210 0 316 66 0.172774869109948 TRUE NA ENSG00000199030.2 . BCM GRCh38.p13 chr21 16539858 16539858 + T T G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199030.2 . . . 21q21.1 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIRLET7C 86 1 118 25 0.174825174825175 TRUE NA ENSG00000081853.15 . BCM GRCh38.p13 chr5 141339430 141339431 + TC TC AG Unknown MNP ENST00000394576.3 exon1 c.459_460delinsAG p.L154V exonic ENSG00000081853.15 . nonframeshift substitution ENSG00000081853.15:ENST00000394576.3:exon1:c.459_460delinsAG:p.L154V 5q31.3 C3N-03039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA2 166 32 268 36 0.118421052631579 TRUE TRUE ENSG00000187862.12 . BCM GRCh38.p13 chr1 156581707 156581707 + C C T Nonsense_Mutation SNP ENST00000368236.7 exon2 c.C343T p.R115X exonic ENSG00000187862.12 . stopgain ENSG00000187862.12:ENST00000368236.7:exon2:c.C343T:p.R115X 1q22 C3N-03086 . . . . . . . . rs765487668 1.6 . . . . N A . . . 0.068 . . . . . . . . . T T . . 3.315 24.200 0.899 N N -0.540 1.099 -1.010 0.477 1.000 0.497 0.492 0.489 0.542 . 4.540 -9.070 -1.325 -1.159 -0.171 0.000 0.006 0.201 693 Tetratricopeptide_repeat-containing_domain . . . TTC24 443 0 417 179 0.300335570469799 TRUE NA ENSG00000075340.23 . BCM GRCh38.p13 chr2 70706395 70706395 + G G A Missense_Mutation SNP ENST00000264436.9 exon3 c.C14T p.T5M exonic ENSG00000075340.23 . nonsynonymous SNV ENSG00000075340.23:ENST00000264436.9:exon3:c.C14T:p.T5M 2p13.3 C3N-03086 . . . . . . . . rs782403508 5.20 D D P B N N L T D 0.290 T T T 0.146 0.088 0.432 0.551 T T T T D D 2.035 19.520 0.993 N N -0.183 1.924 -0.168 1.863 0.999 0.675 0.574 0.693 0.564 . 5.640 3.740 0.829 1.176 0.618 0.019 0.084 0.959 798 . . . ID=COSV52459544;OCCURENCE=2(large_intestine) ADD2 147 0 120 19 0.136690647482014 TRUE TRUE ENSG00000064933.18 . BCM GRCh38.p13 chr2 189805662 189805662 + C C T Missense_Mutation SNP ENST00000441310.7 exon4 c.C326T p.T109I exonic ENSG00000064933.18 . nonsynonymous SNV ENSG00000064933.18:ENST00000441310.7:exon4:c.C326T:p.T109I 2q32.2 C3N-03086 . . . . . . . . . 11.20 D T B B N D N D D 0.360 D D D 0.279 0.462 0.963 0.144 T D T T D D 2.927 23.300 0.970 D N 0.043 2.669 0.197 3.169 0.964 0.732 0.744 0.710 0.728 . 5.860 4.980 3.919 1.026 0.594 1.000 1.000 0.997 711 DNA_mismatch_repair_protein_family,_N-terminal . . . PMS1 308 0 194 20 0.0934579439252336 TRUE TRUE ENSG00000204120.15 . BCM GRCh38.p13 chr2 232819840 232819840 + G G T Missense_Mutation SNP ENST00000373563.9 exon21 c.G2384T p.R795L exonic ENSG00000204120.15 . nonsynonymous SNV ENSG00000204120.15:ENST00000373563.9:exon21:c.G2384T:p.R795L 2q37.1 C3N-03086 . . . . . . . . . 12.19 D D D P D D . T D 0.684 T T D 0.359 0.361 0.276 0.375 D T T T D D 4.008 27.000 0.993 D D 0.428 4.522 0.467 4.875 0.999 0.732 0.725 0.744 0.728 . 5.040 5.040 6.439 1.176 0.676 1.000 0.989 0.955 810 . . . . GIGYF2 182 0 140 18 0.113924050632911 TRUE TRUE ENSG00000113916.18 . BCM GRCh38.p13 chr3 187733551 187733551 + G G A Missense_Mutation SNP ENST00000406870.7 exon3 c.C143T p.T48M exonic ENSG00000113916.18 . nonsynonymous SNV ENSG00000113916.18:ENST00000406870.7:exon3:c.C143T:p.T48M 3q27.3 C3N-03086 0.0002 0.0003 0.0012 0 0 5.996e-05 0 6.056e-05 rs200263685 14.20 D D D D D D L T D 0.733 T T D 0.437 . 0.819 2.459 D D T D T D 4.229 28.900 0.999 D D 0.578 5.706 0.678 7.365 1.000 0.707 0.563 0.725 0.714 . 5.700 5.700 9.362 1.176 0.676 1.000 1.000 0.995 950 BTB/POZ_domain . . ID=COSV51655708;OCCURENCE=1(oesophagus) BCL6 203 0 184 28 0.132075471698113 TRUE TRUE ENSG00000138759.19 . BCM GRCh38.p13 chr4 78369932 78369932 + C C G Nonsense_Mutation SNP ENST00000512123.4 exon23 c.C2817G p.Y939X exonic ENSG00000138759.19 . stopgain ENSG00000138759.19:ENST00000512123.4:exon23:c.C2817G:p.Y939X 4q21.21 C3N-03086 . . . . . . . . . 4.6 . . . . N A . . . 0.908 . . . . . . . . . D D . . 6.122 35 0.996 D N 0.071 2.772 -0.170 1.858 1.000 0.742 0.590 0.775 0.621 . 4.580 -0.790 -0.127 -1.315 -0.919 0.826 0.028 0.025 904 . . . . FRAS1 142 0 72 7 0.0886075949367089 TRUE TRUE ENSG00000145388.15 . BCM GRCh38.p13 chr4 118687973 118687973 + T T - Frame_Shift_Del NA ENST00000388822.10 exon2 c.117delT p.D39Efs*46 exonic ENSG00000145388.15 . frameshift deletion ENSG00000145388.15:ENST00000388822.10:exon2:c.117delT:p.D39Efs*46 4q26 C3N-03086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . METTL14 296 0 158 19 0.107344632768362 TRUE TRUE ENSG00000145388.15 . BCM GRCh38.p13 chr4 118705648 118705648 + G G A Missense_Mutation SNP ENST00000388822.10 exon10 c.G893A p.R298H exonic ENSG00000145388.15 . nonsynonymous SNV ENSG00000145388.15:ENST00000388822.10:exon10:c.G893A:p.R298H 4q26 C3N-03086 . . . . . . . . . 15.20 D D D D D D H T D 0.735 D T D 0.545 0.885 0.708 1.944 D T T T D D 4.405 31 0.999 D D 0.926 11.732 0.853 11.888 1.000 0.732 0.725 0.744 0.714 . 5.820 4.980 9.352 1.176 0.618 1.000 0.987 0.998 888 . . . ID=COSV66310354;OCCURENCE=3(oesophagus),1(cervix),1(biliary_tract),1(stomach),4(pancreas),1(upper_aerodigestive_tract) METTL14 238 0 124 22 0.150684931506849 TRUE TRUE ENSG00000182836.10 . BCM GRCh38.p13 chr5 41382120 41382120 + G G T Missense_Mutation SNP ENST00000377801.8 exon2 c.C518A p.A173E exonic ENSG00000182836.10 . nonsynonymous SNV ENSG00000182836.10:ENST00000377801.8:exon2:c.C518A:p.A173E 5p13.1 C3N-03086 . . . . . . . . . 5.20 T T P B D D L T N 0.530 T T T 0.149 0.464 0.574 0.120 T T T T T D 2.011 19.340 0.957 D D 0.151 3.091 0.302 3.727 0.998 0.487 0.574 0.574 0.564 . 5.810 5.810 5.140 1.176 0.676 1.000 0.997 0.997 638 Phosphatidylinositol-specific_phospholipase_C,_X_domain . . . PLCXD3 272 0 188 25 0.117370892018779 TRUE TRUE ENSG00000120137.7 . BCM GRCh38.p13 chr5 168566244 168566244 + T T C Missense_Mutation SNP ENST00000239231.7 exon3 c.A404G p.K135R exonic ENSG00000120137.7 . nonsynonymous SNV ENSG00000120137.7:ENST00000239231.7:exon3:c.A404G:p.K135R 5q34 C3N-03086 8.275e-06 0 0 0 0 1.505e-05 0 0 rs745504130 16.20 D D P P D D L D D 0.670 D D D 0.825 0.659 0.970 1.228 T D D D D D 3.916 26.400 0.999 D D 0.399 4.339 0.465 4.856 1.000 0.707 0.654 0.696 0.714 . 5.070 5.070 8.017 1.138 0.665 1.000 1.000 1.000 974 . . . . PANK3 115 1 63 4 0.0597014925373134 TRUE NA ENSG00000204703.5 . BCM GRCh38.p13 chr6 29086549 29086549 + G G A Missense_Mutation SNP ENST00000377173.4 exon1 c.C700T p.R234W exonic ENSG00000204703.5 . nonsynonymous SNV ENSG00000204703.5:ENST00000377173.4:exon1:c.C700T:p.R234W 6p22.1 C3N-03086 3.297e-05 9.625e-05 0 0.0001 0 1.499e-05 0 6.059e-05 rs747253516 6.19 D T D D U N M T D 0.240 T T T 0.064 . 0.547 0.153 T T T T D . 2.558 22.500 0.998 N N 0.004 2.524 -0.229 1.717 0.000 0.487 0.574 0.574 0.564 . 3.820 1.310 -1.450 0.671 0.564 0.000 0.846 0.544 754 GPCR,_rhodopsin-like,_7TM . . ID=COSV65850780;OCCURENCE=1(central_nervous_system) OR2B3 152 0 99 27 0.214285714285714 TRUE TRUE ENSG00000065060.17 . BCM GRCh38.p13 chr6 34821813 34821813 + C C T Missense_Mutation SNP ENST00000192788.6 exon2 c.C205T p.R69W exonic ENSG00000065060.17 . nonsynonymous SNV ENSG00000065060.17:ENST00000192788.6:exon2:c.C205T:p.R69W 6p21.31 C3N-03086 8.286e-06 0 0 0 0 1.499e-05 0 0 rs754882631 20.20 D D D D D D M D D 0.874 D D D 0.807 0.648 0.800 0.606 D D D D D D 4.768 33 0.999 D D 0.389 4.279 0.335 3.926 0.949 0.563 0.654 0.609 0.636 . 5.890 3.950 1.680 0.102 -0.224 1.000 0.996 0.923 290 Vacuolar_protein_sorting-associated_protein_13,_N-terminal_domain . . . UHRF1BP1 132 1 91 16 0.149532710280374 TRUE NA ENSG00000137270.11 . BCM GRCh38.p13 chr6 53128406 53128406 + C C A Missense_Mutation SNP ENST00000259803.8 exon6 c.G1111T p.D371Y exonic ENSG00000137270.11 . nonsynonymous SNV ENSG00000137270.11:ENST00000259803.8:exon6:c.G1111T:p.D371Y 6p12.1 C3N-03086 . . . . . . . . . 8.20 D T D P N D M T N 0.478 T T D 0.306 0.471 0.539 0.450 T T D T D T 2.692 22.800 0.995 D N 0.454 4.697 0.473 4.926 0.028 0.497 0.590 0.547 0.542 . 5.730 5.730 1.041 1.026 0.549 0.855 0.863 0.884 618 . . . . GCM1 361 1 269 34 0.112211221122112 TRUE TRUE ENSG00000111879.20 . BCM GRCh38.p13 chr6 118980250 118980250 + G G A Missense_Mutation SNP ENST00000338891.12 exon10 c.C2189T p.T730M exonic ENSG00000111879.20 . nonsynonymous SNV ENSG00000111879.20:ENST00000338891.12:exon10:c.C2189T:p.T730M 6q22.31 C3N-03086 8.293e-06 0 0 0 0 1.5e-05 0 0 rs773464428 8.20 T T D D D D L T N 0.527 T T T 0.197 0.101 0.655 0.623 T T T T D D 3.355 24.300 0.999 D D 0.724 7.471 0.766 9.179 1.000 0.693 0.574 0.659 0.564 . 6.170 6.170 5.739 1.172 0.672 1.000 0.978 0.964 610 . . . ID=COSV58851698;OCCURENCE=1(salivary_gland),2(large_intestine),1(central_nervous_system),1(skin),1(lung) FAM184A 295 0 288 39 0.119266055045872 TRUE TRUE ENSG00000118523.6 . BCM GRCh38.p13 chr6 131949476 131949476 + G G A Nonsense_Mutation SNP ENST00000367976.4 exon5 c.C838T p.R280X exonic ENSG00000118523.6 . stopgain ENSG00000118523.6:ENST00000367976.4:exon5:c.C838T:p.R280X 6q23.2 C3N-03086 . . . . . . . . . 6.6 . . . . D D . . . 0.949 . . . . . . . . . D D . . 6.931 36 0.997 D D 0.456 4.711 0.265 3.518 1.000 0.675 0.563 0.696 0.756 . 5.550 1.400 0.681 0.161 0.618 1.000 0.974 0.921 426 Glycoprotein_hormone_subunit_beta;Cystine_knot,_C-terminal . . . CCN2 434 1 343 45 0.115979381443299 TRUE TRUE ENSG00000078549.14 . BCM GRCh38.p13 chr7 31086976 31086976 + C C T Missense_Mutation SNP ENST00000304166.8 exon11 c.C857T p.T286M exonic ENSG00000078549.14 . nonsynonymous SNV ENSG00000078549.14:ENST00000304166.8:exon11:c.C857T:p.T286M 7p14.3 C3N-03086 0.0001 0 0 0.0003 0 5.993e-05 0 0.0004 rs200730426 1.20 T D B B N N N T N 0.263 T T T 0.088 . 0.481 0.373 T T T T T T 1.801 17.740 0.935 N N -0.861 0.571 -0.804 0.753 0.066 0.706 0.590 0.710 0.542 . 5.560 -0.273 2.332 -0.450 -0.171 0.042 0.077 0.344 939 GPCR,_family_2-like . . ID=COSV58443069;OCCURENCE=1(large_intestine),2(pancreas),1(prostate) ADCYAP1R1 254 0 222 22 0.0901639344262295 TRUE TRUE ENSG00000183117.19 . BCM GRCh38.p13 chr8 2998110 2998110 + C C T Missense_Mutation SNP ENST00000635120.2 exon54 c.G8278A p.V2760M exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon54:c.G8278A:p.V2760M 8p23.2 C3N-03086 0.0001 0.0001 0.0002 0.0003 0 0.0001 0 0 rs753927140 15.19 D D D D D D . T D 0.966 D D D 0.548 . 0.759 . T T T D D D 3.334 24.200 0.998 D D 0.865 10.196 0.773 9.372 1.000 0.487 0.574 0.574 0.564 . 6.070 6.070 7.729 1.026 0.599 1.000 0.124 0.088 952 Sushi/SCR/CCP_domain . . ID=COSV59279948;OCCURENCE=1(large_intestine),1(bone),2(endometrium) CSMD1 232 0 221 27 0.108870967741935 TRUE TRUE ENSG00000169740.14 . BCM GRCh38.p13 chr10 43644427 43644427 + C C T Missense_Mutation SNP ENST00000374433.7 exon3 c.G445A p.A149T exonic ENSG00000169740.14 . nonsynonymous SNV ENSG00000169740.14:ENST00000374433.7:exon3:c.G445A:p.A149T 10q11.21 C3N-03086 . . . . . . . . rs939183137 2.20 T T B B D N N T N 0.094 T T T 0.069 0.209 0.014 0.546 T T T T T D 1.731 17.240 0.995 N N -0.452 1.274 -0.292 1.581 0.758 0.707 0.725 0.725 0.711 . 4.520 4.520 1.175 1.026 0.599 0.001 0.985 0.980 471 Zinc_finger_C2H2-type . . . ZNF32 187 0 139 18 0.114649681528662 TRUE NA ENSG00000176769.9 . BCM GRCh38.p13 chr10 131260339 131260339 + G G A Missense_Mutation SNP ENST00000368642.4 exon4 c.C776T p.P259L exonic ENSG00000176769.9 . nonsynonymous SNV ENSG00000176769.9:ENST00000368642.4:exon4:c.C776T:p.P259L 10q26.3 C3N-03086 3.425e-05 0.0003 0 0 0 1.951e-05 0 0 rs535255286 1.20 T T B B N N N T D 0.212 T T T 0.040 . 0.214 0.114 T T T T T T 1.447 15.400 0.511 N N -0.901 0.519 -0.837 0.706 0.003 0.646 0.588 0.645 0.564 . 5.200 1.550 2.247 -0.143 -0.791 0.987 0.018 0.003 979 . . . . TCERG1L 54 0 54 9 0.142857142857143 TRUE NA ENSG00000215182.8 . BCM GRCh38.p13 chr11 1192448 1192448 + G G C Missense_Mutation SNP ENST00000621226.2 exon31 c.G14303C p.S4768T exonic ENSG00000215182.8 . nonsynonymous SNV ENSG00000215182.8:ENST00000621226.2:exon31:c.G14303C:p.S4768T 11p15.5 C3N-03086 0.0002 0 0 0 0.0003 0.0004 0 0 rs199611002 0.5 . T . . . . . . . 0.168 . . . . . 0.124 . . T T T . . -0.728 0.038 0.314 N . . . . . 0.146 0.057 0.061 0.074 0.079 0.056 2.790 -4.420 -0.383 -0.425 -3.270 0.000 0.000 0.000 . . . . ID=COSV64368850;OCCURENCE=1(oesophagus),1(biliary_tract),1(pancreas) MUC5AC 237 0 265 35 0.116666666666667 TRUE NA ENSG00000187747.2 . BCM GRCh38.p13 chr11 5581136 5581136 + C C T Missense_Mutation SNP ENST00000345043.2 exon1 c.C260T p.A87V exonic ENSG00000187747.2 . nonsynonymous SNV ENSG00000187747.2:ENST00000345043.2:exon1:c.C260T:p.A87V 11p15.4 C3N-03086 . . . . . . . . . 9.20 D D D P U D M T D 0.629 T T T 0.236 0.754 0.638 0.186 T T T T D D 3.445 24.500 0.999 D N 0.655 6.538 0.563 5.786 0.999 0.554 0.588 0.574 0.613 . 5.150 5.150 3.041 0.924 0.574 0.933 0.996 0.762 793 GPCR,_rhodopsin-like,_7TM . . . OR52B6 117 0 92 8 0.08 TRUE TRUE ENSG00000197136.4 . BCM GRCh38.p13 chr11 65618675 65618675 + C C T Missense_Mutation SNP ENST00000355703.3 exon6 c.C1313T p.S438L exonic ENSG00000197136.4 . nonsynonymous SNV ENSG00000197136.4:ENST00000355703.3:exon6:c.C1313T:p.S438L 11q13.1 C3N-03086 1.684e-05 0.0001 0 0 0 1.533e-05 0 0 rs766222339 7.20 T T D D N D L T N 0.415 T T D 0.121 0.294 0.786 . T T T T T D 3.115 23.700 0.997 D D 0.253 3.544 0.191 3.137 1.000 0.707 0.702 0.725 0.714 . 5.120 5.120 2.013 1.026 0.599 0.161 0.771 0.218 275 . . . . PCNX3 216 0 158 21 0.11731843575419 TRUE NA ENSG00000110237.5 . BCM GRCh38.p13 chr11 73363353 73363353 + G G A Missense_Mutation SNP ENST00000263674.4 exon15 c.G5144A p.R1715H exonic ENSG00000110237.5 . nonsynonymous SNV ENSG00000110237.5:ENST00000263674.4:exon15:c.G5144A:p.R1715H 11q13.4 C3N-03086 . . . . . . . . rs1038055507 10.20 D D D D D D L T N 0.646 T T T 0.280 0.315 0.696 1.336 T T T T D D 4.333 29.900 1.000 D D 0.845 9.729 0.842 11.494 1.000 0.707 0.654 0.645 0.714 . 5.280 5.280 9.900 1.176 0.676 1.000 1.000 0.985 462 . . . . ARHGEF17 255 0 255 49 0.161184210526316 TRUE NA ENSG00000166004.15 . BCM GRCh38.p13 chr11 93706795 93706795 + C C T Nonsense_Mutation SNP ENST00000325212.11 exon18 c.C5647T p.R1883X exonic ENSG00000166004.15 . stopgain ENSG00000166004.15:ENST00000325212.11:exon18:c.C5647T:p.R1883X 11q21 C3N-03086 . . . . . . . . . 4.6 . . . . N A . . . 0.238 . . . . . . . . . D D . . 7.787 39 0.998 D N 0.562 5.553 0.392 4.301 0.000 0.651 0.654 0.651 0.684 . 5.140 3.150 1.337 -0.314 0.599 1.000 0.991 0.953 833 . . . . CEP295 137 1 87 13 0.13 TRUE NA ENSG00000149294.16 . BCM GRCh38.p13 chr11 113235153 113235153 + C C T Missense_Mutation SNP ENST00000316851.11 exon14 c.C1814T p.T605M exonic ENSG00000149294.16 . nonsynonymous SNV ENSG00000149294.16:ENST00000316851.11:exon14:c.C1814T:p.T605M 11q23.2 C3N-03086 8.861e-06 0 0 0 0 1.605e-05 0 0 rs782353037 12.16 . D D D U D . . . 0.857 T T D 0.487 0.184 0.488 . T D D D D D 4.117 27.900 0.999 D D 0.804 8.852 0.819 10.706 1.000 0.554 0.563 0.602 0.564 . 5.840 5.840 7.715 1.026 0.549 1.000 0.993 0.988 656 Fibronectin_type_III . . ID=COSV57517108;OCCURENCE=1(cervix),4(large_intestine) NCAM1 282 0 206 21 0.092511013215859 TRUE TRUE ENSG00000003056.8 . BCM GRCh38.p13 chr12 8941856 8941856 + C C T Missense_Mutation SNP ENST00000000412.8 exon7 c.G796A p.E266K exonic ENSG00000003056.8 . nonsynonymous SNV ENSG00000003056.8:ENST00000000412.8:exon7:c.G796A:p.E266K 12p13.31 C3N-03086 1.647e-05 0 0 0 0 2.997e-05 0 0 rs780614862 9.20 D D P B D D M T N 0.368 T T T 0.138 0.588 0.314 0.438 T T T T D D 3.330 24.200 0.999 D D 0.447 4.652 0.549 5.637 1.000 0.719 0.723 0.698 0.711 . 5.810 5.810 5.664 1.013 0.599 1.000 1.000 0.999 673 . . . . M6PR 309 0 260 38 0.12751677852349 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-03086 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 312 0 203 51 0.200787401574803 TRUE TRUE ENSG00000206190.12 . BCM GRCh38.p13 chr15 25683470 25683470 + A A G Missense_Mutation SNP ENST00000555815.6 exon17 c.T3308C p.L1103P exonic ENSG00000206190.12 . nonsynonymous SNV ENSG00000206190.12:ENST00000555815.6:exon17:c.T3308C:p.L1103P 15q12 C3N-03086 . . . . . . . . . 19.20 D D D D D D M D D 0.920 D D D 0.942 0.731 0.880 0.588 D T D D D D 3.834 26.000 0.999 D D 0.911 11.346 0.789 9.808 1.000 0.615 0.588 0.659 0.564 . 4.810 4.810 8.953 1.312 0.756 1.000 0.957 0.709 663 P-type_ATPase,_C-terminal . . . ATP10A 163 0 98 6 0.0576923076923077 TRUE TRUE ENSG00000188779.12 . BCM GRCh38.p13 chr15 67827113 67827113 + G G A Missense_Mutation SNP ENST00000380035.3 exon2 c.G1285A p.G429S exonic ENSG00000188779.12 . nonsynonymous SNV ENSG00000188779.12:ENST00000380035.3:exon2:c.G1285A:p.G429S 15q23 C3N-03086 1.104e-05 0 0 0 0 1.943e-05 0 0 rs780509897 1.15 T T . . . N N T N 0.251 T T D 0.115 . 0.061 . . T T T T T 1.016 11.820 0.993 N . -0.590 1.006 -0.618 1.020 1.000 0.598 0.610 0.596 0.639 . 3.260 2.330 -0.142 0.097 -0.254 0.000 0.046 0.486 339 . . . . SKOR1 53 0 55 10 0.153846153846154 TRUE NA ENSG00000129009.13 . BCM GRCh38.p13 chr15 74175304 74175304 + G G A Missense_Mutation SNP ENST00000249842.8 exon2 c.G446A p.R149H exonic ENSG00000129009.13 . nonsynonymous SNV ENSG00000129009.13:ENST00000249842.8:exon2:c.G446A:p.R149H 15q24.1 C3N-03086 1.651e-05 0 0 0 0 1.502e-05 0 6.075e-05 rs149796219 11.20 D D D D U D L T D 0.414 T T D 0.277 . 0.712 1.153 T T T T D D 3.669 25.300 0.999 D D 0.214 3.366 0.128 2.852 1.000 0.554 0.588 0.506 0.542 . 4.050 3.110 4.978 1.176 0.618 1.000 0.982 0.372 807 . . . ID=COSV51433148;OCCURENCE=2(large_intestine),1(pancreas) ISLR 245 1 216 35 0.139442231075697 TRUE TRUE ENSG00000141034.10 . BCM GRCh38.p13 chr17 18039595 18039595 + G G C Missense_Mutation SNP ENST00000268719.9 exon1 c.G131C p.R44P exonic ENSG00000141034.10 . nonsynonymous SNV ENSG00000141034.10:ENST00000268719.9:exon1:c.G131C:p.R44P 17p11.2 C3N-03086 . . . . . . . . . 4.19 D D B B N N N . N 0.153 T T D 0.156 0.246 0.110 1.765 D T T T T T 2.677 22.800 0.978 N N -0.744 0.740 -0.662 0.954 1.000 0.267 0.484 0.520 0.373 . 3.350 2.250 1.999 0.961 0.512 0.330 0.318 0.770 426 . . . . GID4 19 1 25 8 0.242424242424242 TRUE NA ENSG00000109103.12 . BCM GRCh38.p13 chr17 28547999 28547999 + G G A Missense_Mutation SNP ENST00000335765.9 exon3 c.C437T p.T146M exonic ENSG00000109103.12 . nonsynonymous SNV ENSG00000109103.12:ENST00000335765.9:exon3:c.C437T:p.T146M 17q11.2 C3N-03086 1.66e-05 0 0 0 0 3.025e-05 0 0 rs767590360 18.20 D D D D D D M T D 0.850 D D D 0.718 0.552 0.932 1.280 T D D D D D 4.938 33 0.999 D D 0.959 12.684 0.932 15.189 1.000 0.744 0.522 0.780 0.584 . 5.770 5.770 10.003 1.172 0.672 1.000 1.000 0.991 245 GMP_phosphodiesterase,_delta_subunit . . ID=COSV56379540;OCCURENCE=1(bone) UNC119 326 0 247 25 0.0919117647058824 TRUE TRUE ENSG00000181481.14 . BCM GRCh38.p13 chr17 30971392 30971392 + A A T Missense_Mutation SNP ENST00000328381.10 exon1 c.A319T p.S107C exonic ENSG00000181481.14 . nonsynonymous SNV ENSG00000181481.14:ENST00000328381.10:exon1:c.A319T:p.S107C 17q11.2 C3N-03086 . . . . . . . . . 2.20 D T B B N N N T N 0.163 T T D 0.039 0.352 0.307 0.178 T T T T T T 0.253 3.744 0.662 N N -1.194 0.231 -1.298 0.210 1.000 0.267 0.484 0.474 0.373 . 0.787 -0.387 -2.869 -0.308 -0.344 0.000 0.002 0.002 721 . . . . RNF135 542 0 545 73 0.118122977346278 TRUE TRUE ENSG00000065989.16 . BCM GRCh38.p13 chr19 10420966 10420966 + G G A Missense_Mutation SNP ENST00000380702.7 exon1 c.G202A p.A68T exonic ENSG00000065989.16 . nonsynonymous SNV ENSG00000065989.16:ENST00000380702.7:exon1:c.G202A:p.A68T 19p13.2 C3N-03086 . . . . . . . . . 6.17 . T D B N D N . . 0.203 T T D 0.066 0.201 0.129 . D T T T D T 2.588 22.600 0.998 D N 0.099 2.883 0.166 3.021 1.000 0.437 0.552 0.607 0.555 . 3.790 3.790 2.852 1.172 0.674 0.503 1.000 0.999 759 . . . . PDE4A 392 0 347 60 0.147420147420147 TRUE TRUE ENSG00000105613.10 . BCM GRCh38.p13 chr19 12873723 12873723 + G G A Missense_Mutation SNP ENST00000251472.9 exon26 c.G3566A p.R1189H exonic ENSG00000105613.10 . nonsynonymous SNV ENSG00000105613.10:ENST00000251472.9:exon26:c.G3566A:p.R1189H 19p13.13 C3N-03086 . . . . . . . . . 13.20 D T D D D D M T D 0.384 T T D 0.282 0.183 0.807 . D T T T D D 4.632 32 0.999 D D 0.799 8.758 0.770 9.288 1.000 0.718 0.694 0.571 0.555 . 4.800 4.800 9.832 1.079 0.674 1.000 0.998 0.997 587 . . . . MAST1 326 1 277 36 0.115015974440895 TRUE TRUE ENSG00000039650.12 . BCM GRCh38.p13 chr19 49865323 49865323 + G G A Missense_Mutation SNP ENST00000322344.8 exon4 c.C302T p.P101L exonic ENSG00000039650.12 . nonsynonymous SNV ENSG00000039650.12:ENST00000322344.8:exon4:c.C302T:p.P101L 19q13.33 C3N-03086 . . . . . . . . rs587784367 11.20 D D D P D D M T D 0.760 T T T 0.171 0.692 0.393 0.127 T T T T D D 4.035 27.200 0.998 D D 0.525 5.237 0.533 5.476 1.000 0.722 0.672 0.696 0.735 . 4.660 4.660 6.015 1.176 0.676 1.000 0.958 0.983 594 . . . ID=COSV55586028;OCCURENCE=1(large_intestine) PNKP 644 1 508 77 0.131623931623932 TRUE TRUE ENSG00000157554.19 . BCM GRCh38.p13 chr21 38403635 38403635 + C C T Missense_Mutation SNP ENST00000288319.12 exon4 c.G463A p.V155I exonic ENSG00000157554.19 . nonsynonymous SNV ENSG00000157554.19:ENST00000288319.12:exon4:c.G463A:p.V155I 21q22.2 C3N-03086 4.119e-05 0 0 0.0001 0 5.994e-05 0 0 rs552037654 5.20 T T P B D D N T N 0.195 T T T 0.098 . 0.322 0.919 T T T T T D 1.816 17.850 0.496 D D -0.113 2.134 0.035 2.482 1.000 0.672 0.590 0.602 0.711 . 5.600 5.600 4.723 1.026 0.599 1.000 0.139 0.867 922 Pointed_domain . . ID=COSV55726607;OCCURENCE=5(large_intestine),2(stomach),1(kidney),1(thyroid) ERG 515 1 510 45 0.0810810810810811 TRUE TRUE ENSG00000142156.15 . BCM GRCh38.p13 chr21 46002321 46002321 + G G A Missense_Mutation SNP ENST00000361866.8 exon32 c.G2170A p.A724T exonic ENSG00000142156.15 . nonsynonymous SNV ENSG00000142156.15:ENST00000361866.8:exon32:c.G2170A:p.A724T 21q22.3 C3N-03086 . . . . . . . . rs986553501 17.20 D D D P D D M D D 0.808 D D D 0.657 0.549 0.895 0.770 T D D D D T 3.954 26.700 0.998 D D 0.405 4.371 0.320 3.835 1.000 0.696 0.588 0.723 0.563 . 4.970 4.970 9.273 1.109 0.676 1.000 0.043 0.023 976 von_Willebrand_factor,_type_A . . ID=COSV62612515;OCCURENCE=2(stomach) COL6A1 416 0 289 43 0.129518072289157 TRUE NA ENSG00000184571.13 . BCM GRCh38.p13 chr22 24754122 24754122 + C C T Missense_Mutation SNP ENST00000332271.9 exon8 c.G869A p.R290Q exonic ENSG00000184571.13 . nonsynonymous SNV ENSG00000184571.13:ENST00000332271.9:exon8:c.G869A:p.R290Q 22q11.23 C3N-03086 2.471e-05 0 0 0 0 0 0 0.0002 rs748965457 8.20 D D D D U N M T D 0.662 T T T 0.083 0.550 0.444 0.187 T T T T D D 2.793 23.000 0.999 N N -0.038 2.379 -0.321 1.522 1.000 0.487 0.574 0.547 0.527 . 2.420 0.293 1.612 -0.632 -0.377 0.929 0.013 0.007 483 . . . ID=COSV59994067;OCCURENCE=1(large_intestine) PIWIL3 300 0 190 24 0.11214953271028 TRUE TRUE ENSG00000197976.12 . BCM GRCh38.p13 chrX 1601466 1601466 + A A G Missense_Mutation SNP ENST00000313871.9 exon5 c.A1960G p.R654G exonic ENSG00000197976.12 . nonsynonymous SNV ENSG00000197976.12:ENST00000313871.9:exon5:c.A1960G:p.R654G Xp22.33 C3N-03086 . . . . . . . . . 5.19 D D D P U N L T N 0.112 T T D 0.083 0.212 0.316 0.077 T T T T D T 1.610 16.440 0.754 N . . . . . 0.992 . . . . . 0.860 0.860 1.333 0.775 0.557 0.024 0.077 0.140 1000 . . . . AKAP17A 81 1 56 4 0.0666666666666667 TRUE NA ENSG00000169933.15 . BCM GRCh38.p13 chrX 12609830 12609830 + G G T Missense_Mutation SNP ENST00000380682.5 exon3 c.G268T p.G90C exonic ENSG00000169933.15 . nonsynonymous SNV ENSG00000169933.15:ENST00000380682.5:exon3:c.G268T:p.G90C Xp22.2 C3N-03086 . . . . . . . . . 16.19 D D D D D D H T D 0.966 D T D 0.694 0.438 0.943 2.089 D T D D D D 4.224 28.900 0.998 D . . . . . 1.000 . . . . . 5.010 5.010 9.372 1.176 0.676 1.000 0.999 0.998 912 PDZ_domain . . . FRMPD4 104 0 79 15 0.159574468085106 TRUE TRUE ENSG00000144550.13 . BCM GRCh38.p13 chr3 9712829 9712829 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000144550.13 ENST00000383832.8:exon9:c.545+1G>A . . 3p25.3 C3N-03086 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.867 35 0.996 D . 1.228 26.513 1.076 24.550 1.000 0.075 0.110 0.084 0.075 0.985 5.150 5.150 9.957 1.176 0.676 1.000 1.000 0.999 694 . . . . CPNE9 120 0 71 31 0.303921568627451 TRUE NA ENSG00000114331.15 . BCM GRCh38.p13 chr3 195306592 195306592 + G G A Silent SNP ENST00000326793.11 exon13 c.C1035T p.S345S exonic ENSG00000114331.15 . synonymous SNV ENSG00000114331.15:ENST00000326793.11:exon13:c.C1035T:p.S345S 3q29 C3N-03086 1.648e-05 0 0 0.0002 0 0 0 0 rs754957296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACAP2 201 0 182 18 0.09 TRUE NA ENSG00000153404.14 . BCM GRCh38.p13 chr5 154943 154943 + C C T Silent SNP ENST00000283426.11 exon6 c.C993T p.L331L exonic ENSG00000153404.14 . synonymous SNV ENSG00000153404.14:ENST00000283426.11:exon6:c.C993T:p.L331L 5p15.33 C3N-03086 2.472e-05 0 0.0002 0 0 0 0 6.056e-05 rs141380436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52046488;OCCURENCE=1(skin) PLEKHG4B 307 1 265 29 0.0986394557823129 TRUE TRUE ENSG00000151746.15 . BCM GRCh38.p13 chr12 32338909 32338909 + C C T Silent SNP ENST00000652176.1 exon8 c.C2694T p.P898P exonic ENSG00000151746.15 . synonymous SNV ENSG00000151746.15:ENST00000652176.1:exon8:c.C2694T:p.P898P 12p11.21 C3N-03086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BICD1 293 0 184 36 0.163636363636364 TRUE TRUE ENSG00000184047.19 . BCM GRCh38.p13 chr12 122224554 122224554 + C C T Silent SNP ENST00000464942.7 exon2 c.G141A p.T47T exonic ENSG00000184047.19;ENSG00000284934.1 . synonymous SNV ENSG00000184047.19:ENST00000464942.7:exon2:c.G141A:p.T47T,ENSG00000284934.1:ENST00000443649.8:exon3:c.G141A:p.T47T 12q24.31 C3N-03086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DIABLO 576 0 444 71 0.137864077669903 TRUE NA ENSG00000121053.6 . BCM GRCh38.p13 chr17 58197046 58197046 + C C T Silent SNP ENST00000225371.6 exon7 c.C909T p.N303N exonic ENSG00000121053.6 . synonymous SNV ENSG00000121053.6:ENST00000225371.6:exon7:c.C909T:p.N303N 17q22 C3N-03086 0.0008 9.61e-05 0.0038 0.0061 0 2.997e-05 0 0 rs138295034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56599761;OCCURENCE=1(adrenal_gland),1(stomach) EPX 440 0 390 46 0.105504587155963 TRUE TRUE ENSG00000078699.22 . BCM GRCh38.p13 chr20 33623123 33623123 + G G A Silent SNP ENST00000346541.7 exon6 c.G546A p.L182L exonic ENSG00000078699.22 . synonymous SNV ENSG00000078699.22:ENST00000346541.7:exon6:c.G546A:p.L182L 20q11.22 C3N-03086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CBFA2T2 197 0 175 30 0.146341463414634 TRUE TRUE ENSG00000108557.19 . BCM GRCh38.p13 chr17 17810876 17810876 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000108557.19 ENST00000353383.6:c.*895G>A . . 17p11.2 C3N-03086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAI1 116 0 71 12 0.144578313253012 TRUE NA ENSG00000161692.18 . BCM GRCh38.p13 chr17 44749426 44749426 + G G A Intron SNP NA NA NA NA intronic ENSG00000161692.18 . . . 17q21.31 C3N-03086 . . . . . . . . rs566628181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DBF4B 205 0 208 23 0.0995670995670996 TRUE NA ENSG00000127603.29 . BCM GRCh38.p13 chr1 39250090 39250090 + C C T Missense_Mutation SNP ENST00000372915.7 exon3 c.C359T p.S120L exonic ENSG00000127603.29 . nonsynonymous SNV ENSG00000127603.29:ENST00000372915.7:exon3:c.C359T:p.S120L 1p34.3 C3L-02463 . . . . . . . . . 16.16 D D . . . D . D D 0.871 D D D 0.910 0.610 0.909 . D D D D D D 3.706 25.400 0.999 D D 0.654 6.520 0.696 7.676 1.000 0.732 0.725 0.744 0.711 . 5.560 5.560 7.840 1.026 0.549 1.000 0.973 0.985 823 Calponin_homology_domain . . . MACF1 264 0 203 43 0.17479674796748 TRUE TRUE ENSG00000162624.14 . BCM GRCh38.p13 chr1 75156917 75156917 + C C T Missense_Mutation SNP ENST00000294638.9 exon9 c.C835T p.R279C exonic ENSG00000162624.14 . nonsynonymous SNV ENSG00000162624.14:ENST00000294638.9:exon9:c.C835T:p.R279C 1p31.1 C3L-02463 . . . . . . . . . 20.20 D D D D D D M D D 0.840 D D D 0.938 0.793 0.938 1.274 D D D D D D 4.212 28.800 0.999 D D 0.822 9.227 0.741 8.592 1.000 0.554 0.574 0.618 0.542 . 5.020 5.020 4.626 1.026 0.599 1.000 1.000 1.000 843 Homeobox,_conserved_site;Homeobox_domain . . ID=COSV53955118;OCCURENCE=1(breast),1(large_intestine),1(bone),1(prostate) LHX8 648 0 469 123 0.20777027027027 TRUE TRUE ENSG00000197915.7 . BCM GRCh38.p13 chr1 152220448 152220448 + G G A Missense_Mutation SNP ENST00000368801.4 exon3 c.C1181T p.S394L exonic ENSG00000197915.7 . nonsynonymous SNV ENSG00000197915.7:ENST00000368801.4:exon3:c.C1181T:p.S394L 1q21.3 C3L-02463 . . . . . . . . . 3.19 T D B B . N M T D 0.163 T T T 0.019 0.424 0.353 . T T T T T T 0.511 6.618 0.645 N N -0.983 0.423 -1.031 0.451 0.000 0.487 0.547 0.574 0.564 . 3.480 1.540 -0.036 0.157 0.563 0.000 0.002 0.005 570 . . . . HRNR 448 0 315 72 0.186046511627907 TRUE NA ENSG00000163468.15 . BCM GRCh38.p13 chr1 156312042 156312042 + G G A Missense_Mutation SNP ENST00000295688.8 exon11 c.C1154T p.S385L exonic ENSG00000163468.15 . nonsynonymous SNV ENSG00000163468.15:ENST00000295688.8:exon11:c.C1154T:p.S385L 1q22 C3L-02463 2.504e-05 0.0002 0 0 0 0 0 6.373e-05 rs368091711 9.20 T T B B D D L T D 0.377 T T D 0.374 . 0.468 0.240 T D T T D D 3.387 24.400 0.997 D D 0.029 2.615 0.221 3.289 1.000 0.707 0.725 0.702 0.714 . 5.820 4.910 8.017 1.176 0.665 1.000 0.994 0.950 308 . . . . CCT3 152 0 105 28 0.210526315789474 TRUE NA ENSG00000018625.15 . BCM GRCh38.p13 chr1 160139972 160139972 + C C T Missense_Mutation SNP ENST00000361216.8 exon22 c.C3022T p.R1008W exonic ENSG00000018625.15 . nonsynonymous SNV ENSG00000018625.15:ENST00000361216.8:exon22:c.C3022T:p.R1008W 1q23.2 C3L-02463 . . . . . . . . . 19.20 D D D P D D H D D 0.879 D D D 0.800 0.519 0.954 2.400 D D D D D D 4.131 28.000 0.999 D D 0.485 4.922 0.346 3.995 0.976 0.707 0.590 0.725 0.542 . 4.370 2.400 1.606 1.026 0.599 0.800 0.998 0.988 840 . . . ID=COSV63401929;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(pancreas),1(lung),1(endometrium) ATP1A2 747 0 555 105 0.159090909090909 TRUE TRUE ENSG00000144057.15 . BCM GRCh38.p13 chr2 106843743 106843743 + C C T Missense_Mutation SNP ENST00000409382.7 exon2 c.G235A p.A79T exonic ENSG00000144057.15 . nonsynonymous SNV ENSG00000144057.15:ENST00000409382.7:exon2:c.G235A:p.A79T 2q12.3 C3L-02463 . . . . . . . . . 0.20 T T B B N N N T N 0.024 T T T 0.045 0.072 0.040 0.473 T T T T T T 0.395 5.377 0.619 N N -1.127 0.283 -1.086 0.390 0.074 0.646 0.574 0.645 0.564 . 5.180 2.360 0.605 -0.236 -0.187 0.000 0.000 0.004 872 . . . . ST6GAL2 191 0 155 38 0.196891191709845 TRUE TRUE ENSG00000054219.11 . BCM GRCh38.p13 chr2 159808542 159808542 + C C T Missense_Mutation SNP ENST00000263636.5 exon33 c.G4729A p.D1577N exonic ENSG00000054219.11;ENSG00000248672.5 . nonsynonymous SNV ENSG00000054219.11:ENST00000263636.5:exon33:c.G4729A:p.D1577N,ENSG00000248672.5:ENST00000504764.5:exon33:c.G4729A:p.D1577N 2q24.2 C3L-02463 . . . . . . . . . 2.19 T D B B U D L T N 0.212 T T T 0.024 0.468 0.067 0.049 . T T T T T 1.915 18.610 0.994 N N -0.515 1.147 -0.452 1.282 0.093 0.707 0.725 0.659 0.668 . 5.550 1.340 1.064 0.126 0.549 0.698 0.948 0.989 680 C-type_lectin-like . . . LY75 326 0 296 64 0.177777777777778 TRUE TRUE ENSG00000132394.11 . BCM GRCh38.p13 chr3 128153508 128153508 + A A T Translation_Start_Site SNP ENST00000254730.11 exon1 c.A1T p.M1? exonic ENSG00000132394.11 . startloss ENSG00000132394.11:ENST00000254730.11:exon1:c.A1T:p.M1? 3q21.3 C3L-02463 . . . . . . . . rs1009397010 6.17 T T B B D D . T N 0.441 T T D 0.254 0.977 0.411 . . T D D D . 2.360 21.900 0.882 N N -0.337 1.524 -0.218 1.744 1.000 0.442 0.522 0.520 0.250 . 4.710 4.710 1.146 1.175 0.660 0.999 0.962 0.772 829 . . . . EEFSEC 395 0 286 66 0.1875 TRUE NA ENSG00000168769.13 . BCM GRCh38.p13 chr4 105234162 105234162 + - NA T Frame_Shift_Ins NA ENST00000540549.5 exon3 c.221dupT p.S75Efs*3 exonic ENSG00000168769.13 . frameshift insertion ENSG00000168769.13:ENST00000540549.5:exon3:c.221dupT:p.S75Efs*3 4q24 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TET2 NA NA NA NA NA NA NA ENSG00000137473.17 . BCM GRCh38.p13 chr4 146909148 146909148 + G G A Missense_Mutation SNP ENST00000325106.8 exon5 c.C278T p.A93V exonic ENSG00000137473.17 . nonsynonymous SNV ENSG00000137473.17:ENST00000325106.8:exon5:c.C278T:p.A93V 4q31.22 C3L-02463 . . . . . . . . . 2.20 T D B B N N L T N 0.251 T T T 0.053 0.385 0.095 0.015 T T T T T T 0.915 10.600 0.980 D N -0.630 0.933 -0.607 1.035 0.000 0.554 0.574 0.574 0.568 . 5.030 0.886 1.339 -0.226 -0.153 0.928 0.026 0.928 878 . . . . TTC29 596 0 530 111 0.173166926677067 TRUE TRUE ENSG00000164588.8 . BCM GRCh38.p13 chr5 45262366 45262366 + G G A Missense_Mutation SNP ENST00000303230.6 exon8 c.C2228T p.P743L exonic ENSG00000164588.8 . nonsynonymous SNV ENSG00000164588.8:ENST00000303230.6:exon8:c.C2228T:p.P743L 5p12 C3L-02463 . . . . . . . . . 2.20 D T B B N N L T N 0.154 T T T 0.107 0.219 0.350 0.394 T T T T T T 2.471 22.300 0.988 D N -0.435 1.308 -0.335 1.494 0.001 0.653 0.574 0.676 0.564 . 4.490 2.520 1.601 0.245 0.676 0.732 0.281 0.807 427 . . . ID=COSV57502530;OCCURENCE=1(large_intestine),1(endometrium) HCN1 212 1 139 37 0.210227272727273 TRUE TRUE ENSG00000113319.13 . BCM GRCh38.p13 chr5 80960817 80960817 + G G A Missense_Mutation SNP ENST00000265080.9 exon1 c.G79A p.G27S exonic ENSG00000113319.13 . nonsynonymous SNV ENSG00000113319.13:ENST00000265080.9:exon1:c.G79A:p.G27S 5q14.1 C3L-02463 . . . . . . . . . 17.20 D D D P D D H T D 0.480 D D D 0.810 0.873 0.739 1.858 D D D T D D 4.425 31 0.999 D D 0.794 8.670 0.695 7.654 1.000 0.437 0.563 0.504 0.604 . 3.900 3.900 7.240 1.097 0.590 1.000 0.993 0.995 857 Pleckstrin_homology_domain . . . RASGRF2 182 0 188 44 0.189655172413793 TRUE TRUE ENSG00000145794.17 . BCM GRCh38.p13 chr5 127398760 127398760 + C C - Frame_Shift_Del DEL ENST00000503335.7 exon7 c.744delC p.H248Qfs*88 exonic ENSG00000145794.17 . frameshift deletion ENSG00000145794.17:ENST00000503335.7:exon7:c.744delC:p.H248Qfs*88 5q23.2 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEGF10 422 0 299 53 0.150568181818182 TRUE TRUE ENSG00000158987.21 . BCM GRCh38.p13 chr5 131442380 131442380 + C C G Missense_Mutation SNP ENST00000509018.5 exon23 c.G3579C p.R1193S exonic ENSG00000158987.21;ENSG00000273217.1 . nonsynonymous SNV ENSG00000158987.21:ENST00000509018.5:exon23:c.G3579C:p.R1193S,ENSG00000273217.1:ENST00000514667.1:exon24:c.G3729C:p.R1243S 5q31.1 C3L-02463 . . . . . . . . . 11.20 D T D D D D M T N 0.836 T T D 0.194 0.351 0.448 0.737 T T D T D D 3.513 24.800 0.998 D N 0.567 5.604 0.529 5.436 1.000 0.615 0.654 0.659 0.636 . 5.570 5.570 0.270 1.026 0.594 0.991 0.994 0.972 390 . . . . RAPGEF6 223 1 184 49 0.210300429184549 TRUE TRUE ENSG00000081818.4 . BCM GRCh38.p13 chr5 141123844 141123844 + G G A Missense_Mutation SNP ENST00000194152.4 exon1 c.G1846A p.V616M exonic ENSG00000081818.4 . nonsynonymous SNV ENSG00000081818.4:ENST00000194152.4:exon1:c.G1846A:p.V616M 5q31.3 C3L-02463 . . . . . . . . . 7.19 D D D P . N M T D 0.467 T T T 0.296 0.678 0.419 . T T T T D D 3.206 23.900 0.998 N N 0.301 3.786 0.203 3.197 0.001 0.490 0.574 0.668 0.564 . 4.120 4.120 2.009 1.097 0.342 0.891 0.033 0.065 523 Cadherin-like . . ID=COSV52024048;OCCURENCE=1(central_nervous_system) PCDHB4 1638 0 1096 254 0.188148148148148 NA TRUE ENSG00000146457.16 . BCM GRCh38.p13 chr6 159753473 159753473 + A A G Missense_Mutation SNP ENST00000621533.5 exon7 c.A466G p.K156E exonic ENSG00000146457.16 . nonsynonymous SNV ENSG00000146457.16:ENST00000621533.5:exon7:c.A466G:p.K156E 6q25.3 C3L-02463 . . . . . . . . . 11.20 D D P B D D L T N 0.872 T T D 0.355 0.228 0.543 1.707 D T D D D T 3.082 23.600 0.996 D D 0.419 4.465 0.483 5.004 1.000 0.672 0.702 0.702 0.711 . 5.870 4.710 9.299 1.312 0.756 1.000 1.000 1.000 821 . . . ID=COSV61610182;OCCURENCE=1(pancreas) WTAP 433 0 319 92 0.223844282238443 TRUE TRUE ENSG00000127955.17 . BCM GRCh38.p13 chr7 80203747 80203747 + C C T Missense_Mutation SNP ENST00000649796.2 exon5 c.C505T p.P169S exonic ENSG00000127955.17 . nonsynonymous SNV ENSG00000127955.17:ENST00000649796.2:exon5:c.C505T:p.P169S 7q21.11 C3L-02463 . . . . . . . . . 19.20 D D D D D D H T D 0.895 D D D 0.904 0.917 0.867 2.081 D D D D D D 3.675 25.300 0.999 D D 1.019 14.539 0.938 15.460 1.000 0.732 0.574 0.744 0.613 . 5.640 5.640 7.858 1.026 0.599 1.000 0.998 0.982 904 . . . ID=COSV63522708;OCCURENCE=1(skin) GNAI1 329 0 246 38 0.133802816901408 TRUE TRUE ENSG00000176623.12 . BCM GRCh38.p13 chr8 86477324 86477324 + C C A Missense_Mutation SNP ENST00000406452.8 exon8 c.G730T p.A244S exonic ENSG00000176623.12 . nonsynonymous SNV ENSG00000176623.12:ENST00000406452.8:exon8:c.G730T:p.A244S 8q21.3 C3L-02463 . . . . . . . . . 17.20 D D D D D D M T D 0.744 D D D 0.503 0.734 0.867 0.344 T T D D D D 4.945 33 0.998 D D 0.884 10.646 0.840 11.402 1.000 0.732 0.744 0.710 0.728 . 5.510 5.510 5.987 0.997 0.599 1.000 1.000 0.996 703 . . . . RMDN1 173 0 154 29 0.158469945355191 TRUE TRUE ENSG00000189376.12 . BCM GRCh38.p13 chr8 123226628 123226628 + G G T Missense_Mutation SNP ENST00000276704.6 exon5 c.C820A p.L274M exonic ENSG00000189376.12;ENSG00000259305.6 . nonsynonymous SNV ENSG00000189376.12:ENST00000276704.6:exon5:c.C820A:p.L274M,ENSG00000259305.6:ENST00000357082.8:exon5:c.C724A:p.L242M 8q24.13 C3L-02463 . . . . . . . . . 11.18 D D D D D D M . N 0.633 T T T 0.339 0.629 0.324 0.341 . T D D D T 2.433 22.200 0.992 D N -0.007 2.486 -0.124 1.980 1.000 0.732 0.725 0.744 0.714 . 5.710 0.494 0.133 -0.068 -0.116 0.829 0.996 0.976 974 . . . . C8orf76 211 0 132 33 0.2 TRUE TRUE ENSG00000160949.17 . BCM GRCh38.p13 chr8 144437072 144437072 + A A G Missense_Mutation SNP ENST00000409379.8 exon14 c.T1681C p.C561R exonic ENSG00000160949.17 . nonsynonymous SNV ENSG00000160949.17:ENST00000409379.8:exon14:c.T1681C:p.C561R 8q24.3 C3L-02463 . . . . . . . . . 13.19 D D D D D D N T D 0.692 T T D 0.538 0.432 0.727 0.823 T T D D D . 3.513 24.700 0.991 D D 0.370 4.161 0.369 4.149 1.000 0.672 0.702 0.702 0.636 . 4.990 4.990 3.341 1.312 0.756 1.000 0.997 0.313 940 Ankyrin_repeat-containing_domain . . . TONSL 496 0 388 85 0.179704016913319 TRUE TRUE ENSG00000107731.12 . BCM GRCh38.p13 chr10 71284753 71284753 + C C T Missense_Mutation SNP ENST00000335350.10 exon3 c.C338T p.S113L exonic ENSG00000107731.12 . nonsynonymous SNV ENSG00000107731.12:ENST00000335350.10:exon3:c.C338T:p.S113L 10q22.1 C3L-02463 2.477e-05 0 8.652e-05 0 0 1.503e-05 0 6.058e-05 rs779677077 13.20 D D D D D D M T D 0.521 T T D 0.319 0.494 0.685 0.140 T T T T D D 3.774 25.700 0.999 D D 0.525 5.236 0.413 4.450 1.000 0.696 0.547 0.723 0.563 . 4.750 3.840 6.157 1.010 0.580 1.000 0.796 0.777 884 Immunoglobulin_subtype . . ID=COSV58976573;OCCURENCE=1(urinary_tract) UNC5B 472 1 438 74 0.14453125 TRUE TRUE ENSG00000165841.11 . BCM GRCh38.p13 chr10 94820626 94820626 + C C T Missense_Mutation SNP ENST00000371321.9 exon6 c.C950T p.P317L exonic ENSG00000165841.11 . nonsynonymous SNV ENSG00000165841.11:ENST00000371321.9:exon6:c.C950T:p.P317L 10q23.33 C3L-02463 . . . . . . . . . 6.15 D D . . U D . T D 0.540 T T T 0.272 0.875 0.685 0.023 T . T T D . 2.818 23.100 0.998 D N 0.522 5.212 0.372 4.166 0.000 0.487 0.574 0.574 0.564 . 3.950 3.950 2.158 0.990 0.527 0.986 0.377 0.057 517 . . . . CYP2C19 354 0 256 30 0.104895104895105 NA TRUE ENSG00000165887.12 . BCM GRCh38.p13 chr10 97577888 97577888 + T T G Missense_Mutation SNP ENST00000307518.9 exon2 c.T257G p.L86R exonic ENSG00000165887.12 . nonsynonymous SNV ENSG00000165887.12:ENST00000307518.9:exon2:c.T257G:p.L86R 10q24.2 C3L-02463 . . . . . . . . . 5.20 D T P P N N M T N 0.711 T T D 0.256 0.438 0.771 0.758 T T D T D T 2.704 22.800 0.948 N N -0.204 1.865 -0.314 1.535 1.000 0.517 0.563 0.479 0.563 . 4.650 4.650 2.841 1.138 0.665 0.035 0.005 0.006 372 . . . . ANKRD2 200 0 192 36 0.157894736842105 TRUE TRUE ENSG00000148704.13 . BCM GRCh38.p13 chr10 117134457 117134457 + G G A Missense_Mutation SNP ENST00000369206.6 exon3 c.C556T p.R186C exonic ENSG00000148704.13 . nonsynonymous SNV ENSG00000148704.13:ENST00000369206.6:exon3:c.C556T:p.R186C 10q25.3 C3L-02463 8.718e-05 0 0 0 0 0 0 0.0001 rs778224173 20.20 D D D D D D M D D 0.244 D D D 0.722 0.338 0.878 2.320 D D D D D D 4.278 29.400 0.999 D D 0.519 5.189 0.471 4.904 1.000 0.598 0.590 0.378 0.639 . 4.450 4.450 2.706 0.988 0.501 1.000 0.992 0.824 704 . . . . VAX1 345 0 320 76 0.191919191919192 TRUE NA ENSG00000129083.12 . BCM GRCh38.p13 chr11 14481015 14481016 + AG AG - Frame_Shift_Del DEL ENST00000249923.7 exon9 c.1039_1040del p.L347Cfs*4 exonic ENSG00000129083.12 . frameshift deletion ENSG00000129083.12:ENST00000249923.7:exon9:c.1039_1040del:p.L347Cfs*4 11p15.2 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COPB1 350 0 268 47 0.149206349206349 TRUE TRUE ENSG00000086205.18 . BCM GRCh38.p13 chr11 49154366 49154366 + C C T Missense_Mutation SNP ENST00000256999.7 exon16 c.G1750A p.V584M exonic ENSG00000086205.18 . nonsynonymous SNV ENSG00000086205.18:ENST00000256999.7:exon16:c.G1750A:p.V584M 11p11.12 C3L-02463 . . . . . . . . . 5.20 T T D P N D M T N 0.626 T T T 0.047 0.372 0.462 1.775 T T T T D D 2.408 22.100 0.990 N N -0.108 2.148 -0.138 1.941 0.000 0.487 0.574 0.574 0.564 . 3.620 2.700 1.088 0.913 0.293 0.927 0.998 0.565 198 . . . . FOLH1 336 0 287 74 0.204986149584488 NA TRUE ENSG00000204381.11 . BCM GRCh38.p13 chr11 111540901 111540901 + C C T Missense_Mutation SNP ENST00000375615.7 exon1 c.C58T p.R20W exonic ENSG00000204381.11 . nonsynonymous SNV ENSG00000204381.11:ENST00000375615.7:exon1:c.C58T:p.R20W 11q23.1 C3L-02463 . . . . . . . . . 6.20 D D D P N N M T N 0.229 T T D 0.100 0.535 0.331 0.085 T T T T D T 1.341 14.680 0.997 N N -0.590 1.006 -0.800 0.757 1.000 0.685 0.541 0.674 0.555 . 4.440 0.128 -0.141 -0.374 -0.261 0.001 0.114 0.378 132 . . . . LAYN 417 0 487 103 0.174576271186441 TRUE TRUE ENSG00000111262.6 . BCM GRCh38.p13 chr12 4912512 4912512 + G G T Missense_Mutation SNP ENST00000382545.5 exon2 c.G1134T p.M378I exonic ENSG00000111262.6 . nonsynonymous SNV ENSG00000111262.6:ENST00000382545.5:exon2:c.G1134T:p.M378I 12p13.32 C3L-02463 . . . . . . . . . 16.20 D T B B D D N D D 0.743 D D D 0.771 0.632 0.936 2.470 D D D D D D 3.320 24.200 0.982 D D 0.207 3.332 0.376 4.195 1.000 0.609 0.628 0.596 0.530 . 4.900 4.900 9.932 1.176 0.676 1.000 1.000 1.000 850 Ion_transport_domain . . . KCNA1 260 0 231 44 0.16 TRUE TRUE ENSG00000111732.11 . BCM GRCh38.p13 chr12 8605245 8605245 + C C T Missense_Mutation SNP ENST00000229335.11 exon3 c.G397A p.G133R exonic ENSG00000111732.11 . nonsynonymous SNV ENSG00000111732.11:ENST00000229335.11:exon3:c.G397A:p.G133R 12p13.31 C3L-02463 . . . . . . . . . 17.20 D D D D D D M T D 0.838 D D D 0.609 0.818 0.875 2.076 T T D D D D 3.300 24.100 0.998 D D 0.516 5.163 0.403 4.380 1.000 0.672 0.702 0.576 0.542 . 5.560 5.560 7.345 1.008 0.599 1.000 0.341 0.088 927 APOBEC-like,_N-terminal . . . AICDA 811 0 581 144 0.198620689655172 TRUE TRUE ENSG00000197837.3 . BCM GRCh38.p13 chr12 14771053 14771053 + A A G Missense_Mutation SNP ENST00000539745.1 exon1 c.T32C p.L11P exonic ENSG00000197837.3 . nonsynonymous SNV ENSG00000197837.3:ENST00000539745.1:exon1:c.T32C:p.L11P 12p12.3 C3L-02463 . . . . . . . . . 8.14 D T . . U D . . D 0.417 T T D 0.164 0.198 0.921 0.477 T . D T D . 3.466 24.600 0.985 D D 0.168 3.164 0.152 2.959 1.000 0.442 0.522 0.522 0.373 . 4.070 4.070 5.674 1.312 0.756 1.000 0.391 0.352 695 . . . . H4-16 146 0 146 29 0.165714285714286 TRUE TRUE ENSG00000134532.19 . BCM GRCh38.p13 chr12 23536655 23536655 + C C G Missense_Mutation SNP ENST00000451604.7 exon14 c.G1786C p.A596P exonic ENSG00000134532.19 . nonsynonymous SNV ENSG00000134532.19:ENST00000451604.7:exon14:c.G1786C:p.A596P 12p12.1 C3L-02463 . . . . . . . . . 19.20 D D D P D D M D D 0.746 D D D 0.755 0.609 0.830 2.822 D D D D D D 3.868 26.200 0.996 D D 0.665 6.651 0.679 7.379 1.000 0.560 0.608 0.527 0.564 . 5.600 5.600 3.916 1.010 0.580 1.000 1.000 0.999 870 High_mobility_group_box_domain . . . SOX5 416 0 405 92 0.185110663983903 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-02463 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 461 2 396 101 0.203219315895372 TRUE TRUE ENSG00000129317.14 . BCM GRCh38.p13 chr12 43754611 43754611 + T T A Missense_Mutation SNP ENST00000344862.9 exon2 c.A635T p.E212V exonic ENSG00000129317.14 . nonsynonymous SNV ENSG00000129317.14:ENST00000344862.9:exon2:c.A635T:p.E212V 12q12 C3L-02463 . . . . . . . . . 10.20 D D D P D D L T D 0.624 T T D 0.245 0.503 0.556 0.219 T T T T D T 3.711 25.500 0.979 D D 0.521 5.204 0.535 5.495 1.000 0.609 0.628 0.602 0.655 . 5.350 5.350 7.367 1.138 0.665 1.000 0.980 0.871 606 . . . . PUS7L 258 0 217 51 0.190298507462687 TRUE TRUE ENSG00000073910.22 . BCM GRCh38.p13 chr13 32239766 32239766 + T T A Missense_Mutation SNP ENST00000542859.6 exon46 c.T6572A p.L2191H exonic ENSG00000073910.22 . nonsynonymous SNV ENSG00000073910.22:ENST00000542859.6:exon46:c.T6572A:p.L2191H 13q13.1 C3L-02463 . . . . . . . . . 13.17 . D D D D D M . . 0.954 T T T 0.517 0.540 0.278 1.400 D T D D D D 4.219 28.800 0.982 D D 0.847 9.762 0.837 11.308 1.000 0.651 0.574 0.659 0.684 . 6.070 6.070 8.017 1.138 0.665 1.000 0.998 0.995 946 Cell_morphogenesis_protein_C-terminal . . . FRY 410 0 343 71 0.171497584541063 TRUE TRUE ENSG00000139797.8 . BCM GRCh38.p13 chr13 98176839 98176839 + C C T Missense_Mutation SNP ENST00000267291.7 exon1 c.G398A p.R133Q exonic ENSG00000139797.8 . nonsynonymous SNV ENSG00000139797.8:ENST00000267291.7:exon1:c.G398A:p.R133Q 13q32.2 C3L-02463 0.0001 0.0013 8.64e-05 0 0 0 0 0 rs116650511 1.20 T T B B U D N T N 0.058 T T T 0.060 . 0.199 0.543 T T T T T T 0.820 9.593 0.883 N N -1.203 0.225 -1.248 0.245 1.000 0.487 0.574 0.578 0.714 . 1.160 -1.660 1.601 -0.439 -0.315 1.000 0.004 0.001 689 . . . . RNF113B 436 0 316 92 0.225490196078431 TRUE NA ENSG00000156218.13 . BCM GRCh38.p13 chr15 83942964 83942964 + C C T Missense_Mutation SNP ENST00000286744.10 exon19 c.C2372T p.T791M exonic ENSG00000156218.13 . nonsynonymous SNV ENSG00000156218.13:ENST00000286744.10:exon19:c.C2372T:p.T791M 15q25.2 C3L-02463 3.319e-05 9.61e-05 0 0 0 4.517e-05 0 0 rs144077662 3.20 T T D P N D L T N 0.369 T T T 0.086 . 0.691 0.439 T T T T T T 2.851 23.100 0.997 D N 0.099 2.881 0.084 2.672 0.206 0.554 0.588 0.618 0.564 . 5.190 4.280 4.741 1.026 0.599 1.000 0.973 0.987 350 . . . ID=COSV54450723;OCCURENCE=2(large_intestine),1(lung) ADAMTSL3 279 0 242 52 0.17687074829932 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673802 7673802 + C C A Missense_Mutation SNP ENST00000269305.8 exon8 c.G818T p.R273L exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G818T:p.R273L 17p13.1 C3L-02463 8.761e-06 0 0 0 0 1.582e-05 0 0 rs28934576 19.20 D D D D D D M D D 0.974 D D D 0.921 0.988 0.997 0.422 T D D D D D 4.141 28.100 0.998 D D 0.679 6.833 0.537 5.513 1.000 0.722 0.702 0.725 0.735 . 4.920 4.920 7.905 1.022 0.596 1.000 0.856 0.980 432 p53,_DNA-binding_domain . . ID=COSV52664805;OCCURENCE=2(salivary_gland),15(breast),7(liver),12(oesophagus),9(large_intestine),6(central_nervous_system),1(biliary_tract),1(pleura),8(ovary),1(bone),2(NS),3(stomach),4(haematopoietic_and_lymphoid_tissue),1(kidney),10(urinary_tract),3(pancreas),3(skin),4(prostate),126(lung),2(thyroid),9(upper_aerodigestive_tract),1(testis),2(endometrium) TP53 1028 1 665 189 0.221311475409836 TRUE TRUE ENSG00000198720.13 . BCM GRCh38.p13 chr17 29611984 29611984 + G G A Missense_Mutation SNP ENST00000394859.8 exon10 c.G1078A p.E360K exonic ENSG00000198720.13 . nonsynonymous SNV ENSG00000198720.13:ENST00000394859.8:exon10:c.G1078A:p.E360K 17q11.2 C3L-02463 . . . . . . . . . 10.20 D D P P D D L T D 0.307 T T T 0.229 0.408 0.586 1.314 D T T T D D 3.994 26.900 0.999 D D 0.597 5.888 0.642 6.787 0.999 0.732 0.634 0.723 0.728 . 5.970 5.970 4.296 1.176 0.676 1.000 1.000 0.996 82 . . . . ANKRD13B 169 0 150 30 0.166666666666667 TRUE TRUE ENSG00000198720.13 . BCM GRCh38.p13 chr17 29612186 29612186 + G G A Missense_Mutation SNP ENST00000394859.8 exon11 c.G1171A p.D391N exonic ENSG00000198720.13 . nonsynonymous SNV ENSG00000198720.13:ENST00000394859.8:exon11:c.G1171A:p.D391N 17q11.2 C3L-02463 . . . . . . . . . 12.20 D D P P D D M T D 0.669 T T D 0.506 0.477 0.808 1.867 D T T T D D 4.232 29.000 0.999 D D 0.784 8.467 0.803 10.200 1.000 0.635 0.634 0.723 0.646 . 5.830 5.830 8.119 1.176 0.676 1.000 1.000 0.998 82 . . . ID=COSV61470366;OCCURENCE=1(large_intestine) ANKRD13B 317 0 302 63 0.172602739726027 TRUE TRUE ENSG00000120071.14 . BCM GRCh38.p13 chr17 46034246 46034246 + C C G Missense_Mutation SNP ENST00000432791.6 exon11 c.G2581C p.D861H exonic ENSG00000120071.14 . nonsynonymous SNV ENSG00000120071.14:ENST00000432791.6:exon11:c.G2581C:p.D861H 17q21.31 C3L-02463 . . . . . . . . . 13.16 D D . . D D . T D 0.907 T T D 0.454 0.301 0.797 1.438 D . D D D D 3.929 26.500 0.995 D D 0.709 7.243 0.655 6.980 1.000 0.707 0.725 0.702 0.714 . 5.590 5.590 7.813 1.026 0.599 1.000 0.745 0.851 406 . . . . KANSL1 515 2 496 71 0.125220458553792 TRUE TRUE ENSG00000108375.12 . BCM GRCh38.p13 chr17 58358406 58358406 + T T - Frame_Shift_Del DEL ENST00000584437.5 exon8 c.1370delA p.Y457Sfs*45 exonic ENSG00000108375.12;ENSG00000285897.1 . frameshift deletion ENSG00000108375.12:ENST00000584437.5:exon8:c.1370delA:p.Y457Sfs*45,ENSG00000285897.1:ENST00000648873.1:exon8:c.1370delA:p.Y457Sfs*45 17q22 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF43 234 0 141 43 0.233695652173913 TRUE TRUE ENSG00000141431.12 . BCM GRCh38.p13 chr18 33670776 33670776 + C C T Missense_Mutation SNP ENST00000269197.12 exon6 c.C581T p.S194L exonic ENSG00000141431.12 . nonsynonymous SNV ENSG00000141431.12:ENST00000269197.12:exon6:c.C581T:p.S194L 18q12.1 C3L-02463 . . . . . . . . rs931090804 9.19 D T D D . D N T N 0.728 T T T 0.141 0.218 0.082 0.497 D T T T D D 3.898 26.300 0.999 D D 0.576 5.689 0.618 6.459 1.000 0.487 0.574 0.547 0.564 . 5.480 5.480 5.752 1.026 0.599 1.000 1.000 0.997 711 . . . . ASXL3 166 0 131 29 0.18125 TRUE NA ENSG00000141646.14 . BCM GRCh38.p13 chr18 51048789 51048789 + C C T Missense_Mutation SNP ENST00000342988.8 exon3 c.C353T p.A118V exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon3:c.C353T:p.A118V 18q21.2 C3L-02463 . . . . . . . . . 19.20 D D D D D D M T D 0.721 D D D 0.873 0.759 0.890 2.751 D D D D D D 3.914 26.400 0.999 D D 0.896 10.959 0.841 11.447 1.000 0.707 0.725 0.663 0.714 . 5.480 5.480 7.902 1.026 0.549 1.000 0.722 0.800 680 MAD_homology_1,_Dwarfin-type;MAD_homology,_MH1 . . ID=COSV61684095;OCCURENCE=3(breast),2(oesophagus),23(large_intestine),1(bone),1(stomach),9(pancreas),1(upper_aerodigestive_tract) SMAD4 565 1 351 114 0.245161290322581 TRUE TRUE ENSG00000256463.8 . BCM GRCh38.p13 chr18 78997209 78997209 + C C T Missense_Mutation SNP ENST00000537592.6 exon3 c.C3790T p.R1264C exonic ENSG00000256463.8 . nonsynonymous SNV ENSG00000256463.8:ENST00000537592.6:exon3:c.C3790T:p.R1264C 18q23 C3L-02463 3.301e-05 0 8.645e-05 0 0 1.503e-05 0 0.0001 rs146109999 10.20 D D B B D D M T D 0.394 T T D 0.133 . 0.644 0.558 T T T T D D 1.724 17.190 0.606 D N -0.150 2.023 -0.186 1.819 1.000 0.632 0.574 0.698 0.613 . 5.320 4.450 2.569 0.126 0.599 0.979 0.002 0.001 . . . . ID=COSV73305976;OCCURENCE=2(endometrium) SALL3 508 0 260 76 0.226190476190476 TRUE TRUE ENSG00000196350.9 . BCM GRCh38.p13 chr19 22315441 22315441 + A A C Missense_Mutation SNP ENST00000601693.2 exon4 c.A2024C p.K675T exonic ENSG00000196350.9 . nonsynonymous SNV ENSG00000196350.9:ENST00000601693.2:exon4:c.A2024C:p.K675T 19p12 C3L-02463 . . . . . . . . . 2.14 . D . . . . L T . 0.284 T T T 0.031 - 0.092 0.011 T T T T T D 1.080 12.560 0.994 N N -0.792 0.666 -0.972 0.525 0.000 0.487 0.574 0.574 0.564 . 0.996 0.996 -0.138 0.530 0.323 0.000 0.001 0.001 988 Zinc_finger_C2H2-type . . . ZNF729 395 0 426 91 0.176015473887814 NA TRUE ENSG00000196381.11 . BCM GRCh38.p13 chr19 37670070 37670070 + G G A Missense_Mutation SNP ENST00000358582.9 exon4 c.C79T p.H27Y exonic ENSG00000196381.11 . nonsynonymous SNV ENSG00000196381.11:ENST00000358582.9:exon4:c.C79T:p.H27Y 19q13.12 C3L-02463 . . . . . . . . . 6.15 D D . . . D M T D 0.217 T T T 0.172 0.716 0.030 0.088 . . T T D T 1.536 15.970 0.992 N N -0.001 2.508 -0.228 1.721 0.952 0.554 0.574 0.618 0.564 . 1.400 1.400 1.602 -0.154 0.503 0.956 0.000 0.003 662 . . . . ZNF781 142 0 128 45 0.260115606936416 TRUE TRUE ENSG00000090924.15 . BCM GRCh38.p13 chr19 39423534 39423534 + G G A Missense_Mutation SNP ENST00000425673.6 exon18 c.G2480A p.R827Q exonic ENSG00000090924.15 . nonsynonymous SNV ENSG00000090924.15:ENST00000425673.6:exon18:c.G2480A:p.R827Q 19q13.2 C3L-02463 2.649e-05 0.0002 0.0001 0 0 0 0 0 rs374823888 11.20 D D D D D D M T N 0.513 T T D 0.252 . 0.786 . T T T T D D 3.837 26.000 0.999 D N 0.535 5.323 0.531 5.456 1.000 0.707 0.702 0.702 0.714 . 5.790 4.760 1.907 1.176 0.676 1.000 0.871 0.849 679 . . . . PLEKHG2 66 0 60 19 0.240506329113924 TRUE NA ENSG00000124251.11 . BCM GRCh38.p13 chr20 45377610 45377610 + G G A Nonsense_Mutation SNP ENST00000372726.5 exon2 c.C52T p.Q18X exonic ENSG00000124251.11 . stopgain ENSG00000124251.11:ENST00000372726.5:exon2:c.C52T:p.Q18X 20q13.12 C3L-02463 . . . . . . . . . 3.6 . . . . N A . . . 0.081 . . . . . . . . . D D . . 5.124 33 0.996 N N 0.477 4.861 0.168 3.032 0.992 0.554 0.574 0.602 0.568 . 4.180 3.200 0.979 1.146 0.676 0.067 0.020 0.025 885 . . . . TP53TG5 445 0 360 78 0.178082191780822 TRUE TRUE ENSG00000211654.2 . BCM GRCh38.p13 chr22 22427901 22427901 + C C T Nonsense_Mutation SNP ENST00000390300.2 exon2 c.C235T p.Q79X exonic ENSG00000211654.2 . stopgain ENSG00000211654.2:ENST00000390300.2:exon2:c.C235T:p.Q79X 22q11.22 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLV5-37 711 0 619 62 0.0910425844346549 NA TRUE ENSG00000196576.15 . BCM GRCh38.p13 chr22 50282033 50282033 + G G - Frame_Shift_Del DEL ENST00000359337.9 exon20 c.3166delC p.L1056Cfs*17 exonic ENSG00000196576.15 . frameshift deletion ENSG00000196576.15:ENST00000359337.9:exon20:c.3166delC:p.L1056Cfs*17 22q13.33 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLXNB2 455 0 359 96 0.210989010989011 TRUE TRUE ENSG00000102362.15 . BCM GRCh38.p13 chrX 100686688 100686688 + C C A Missense_Mutation SNP ENST00000372989.5 exon14 c.G1278T p.E426D exonic ENSG00000102362.15 . nonsynonymous SNV ENSG00000102362.15:ENST00000372989.5:exon14:c.G1278T:p.E426D Xq22.1 C3L-02463 . . . . . . . . . 10.19 D D D P N D H T D 0.598 T T D 0.270 0.955 0.176 . T D T T D T 1.495 15.710 0.998 D . . . . . 1.000 . . . . . 5.970 2.080 -0.068 0.103 0.599 0.262 0.552 0.596 65 C2_domain;Synaptotagmin-like_protein_4/5,_C2A_domain . . . SYTL4 108 0 83 44 0.346456692913386 TRUE TRUE ENSG00000178922.16 . BCM GRCh38.p13 chr1 43453457 43453457 + G G A Silent SNP ENST00000372425.8 exon2 c.C240T p.P80P exonic ENSG00000178922.16 . synonymous SNV ENSG00000178922.16:ENST00000372425.8:exon2:c.C240T:p.P80P 1p34.2 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HYI 280 0 228 50 0.179856115107914 TRUE TRUE ENSG00000154358.21 . BCM GRCh38.p13 chr1 228295024 228295024 + G G A Silent SNP ENST00000422127.5 exon43 c.G11640A p.S3880S exonic ENSG00000154358.21 . synonymous SNV ENSG00000154358.21:ENST00000422127.5:exon43:c.G11640A:p.S3880S 1q42.13 C3L-02463 4.967e-05 0 0.0003 0 0 1.498e-05 0 6.056e-05 rs549657012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OBSCN 525 0 392 130 0.24904214559387 TRUE NA ENSG00000072163.19 . BCM GRCh38.p13 chr2 127639395 127639395 + C C T Silent SNP ENST00000355119.8 exon10 c.G912A p.V304V exonic ENSG00000072163.19 . synonymous SNV ENSG00000072163.19:ENST00000355119.8:exon10:c.G912A:p.V304V 2q14.3 C3L-02463 8.243e-06 0 0 0 0 0 0 6.058e-05 rs757061758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIMS2 322 0 229 53 0.187943262411348 TRUE NA ENSG00000054356.14 . BCM GRCh38.p13 chr2 219296316 219296316 + G G A Silent SNP ENST00000295718.7 exon18 c.C2418T p.I806I exonic ENSG00000054356.14 . synonymous SNV ENSG00000054356.14:ENST00000295718.7:exon18:c.C2418T:p.I806I 2q35 C3L-02463 4.12e-05 0 0 0.0002 0 4.498e-05 0 0 rs761397429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRN 409 0 347 71 0.169856459330144 TRUE NA ENSG00000168268.11 . BCM GRCh38.p13 chr3 52529258 52529258 + G G A Silent SNP ENST00000307076.8 exon2 c.C198T p.D66D exonic ENSG00000168268.11 . synonymous SNV ENSG00000168268.11:ENST00000307076.8:exon2:c.C198T:p.D66D 3p21.1 C3L-02463 8.309e-06 0 0 0 0 1.516e-05 0 0 rs762216017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58734597;OCCURENCE=1(prostate) NT5DC2 615 0 502 97 0.161936560934891 TRUE TRUE ENSG00000186038.9 . BCM GRCh38.p13 chr3 184106324 184106324 + C C T Silent SNP ENST00000415389.6 exon8 c.C1122T p.L374L exonic ENSG00000186038.9 . synonymous SNV ENSG00000186038.9:ENST00000415389.6:exon8:c.C1122T:p.L374L 3q27.1 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HTR3E 342 0 225 82 0.267100977198697 NA TRUE ENSG00000152611.12 . BCM GRCh38.p13 chr5 35904605 35904605 + G G A Silent SNP ENST00000651391.1 exon5 c.C567T p.S189S exonic ENSG00000152611.12 . synonymous SNV ENSG00000152611.12:ENST00000651391.1:exon5:c.C567T:p.S189S 5p13.2 C3L-02463 6.608e-05 0 0 0.0003 0 7.511e-05 0 0 rs138016761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV68437436;OCCURENCE=1(lung),1(endometrium) CAPSL 357 0 294 46 0.135294117647059 TRUE TRUE ENSG00000176406.23 . BCM GRCh38.p13 chr8 103886111 103886111 + C C T Silent SNP ENST00000666250.1 exon4 c.C1512T p.G504G exonic ENSG00000176406.23 . synonymous SNV ENSG00000176406.23:ENST00000666250.1:exon4:c.C1512T:p.G504G 8q22.3 C3L-02463 8.351e-06 0 0 0 0 1.511e-05 0 0 rs758569920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51656297;OCCURENCE=1(breast),1(central_nervous_system),1(stomach),1(skin) RIMS2 600 0 489 68 0.122082585278276 TRUE TRUE ENSG00000181790.11 . BCM GRCh38.p13 chr8 142481270 142481270 + G G C Silent SNP ENST00000517894.5 exon10 c.G1845C p.R615R exonic ENSG00000181790.11 . synonymous SNV ENSG00000181790.11:ENST00000517894.5:exon10:c.G1845C:p.R615R 8q24.3 C3L-02463 3.32e-05 0 0 0 0 0 0 0.0002 rs754733336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRB1 410 1 349 78 0.182669789227166 TRUE NA ENSG00000073921.18 . BCM GRCh38.p13 chr11 85981171 85981171 + T T C Silent SNP ENST00000393346.8 exon17 c.A1737G p.Q579Q exonic ENSG00000073921.18 . synonymous SNV ENSG00000073921.18:ENST00000393346.8:exon17:c.A1737G:p.Q579Q 11q14.2 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PICALM 371 0 319 56 0.149333333333333 TRUE TRUE ENSG00000087299.12 . BCM GRCh38.p13 chr14 50267836 50267836 + A A G Silent SNP ENST00000267436.9 exon8 c.T981C p.P327P exonic ENSG00000087299.12 . synonymous SNV ENSG00000087299.12:ENST00000267436.9:exon8:c.T981C:p.P327P 14q21.3 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . L2HGDH 408 0 338 85 0.200945626477541 TRUE TRUE ENSG00000129925.11 . BCM GRCh38.p13 chr16 374143 374143 + G G A Silent SNP ENST00000431232.7 exon11 c.C1764T p.H588H exonic ENSG00000129925.11 . synonymous SNV ENSG00000129925.11:ENST00000431232.7:exon11:c.C1764T:p.H588H 16p13.3 C3L-02463 5.87e-05 0 0 0 0 3.065e-05 0 0.0003 rs377049744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PGAP6 484 0 399 105 0.208333333333333 TRUE NA ENSG00000198720.13 . BCM GRCh38.p13 chr17 29611989 29611989 + G G A Silent SNP ENST00000394859.8 exon10 c.G1083A p.L361L exonic ENSG00000198720.13 . synonymous SNV ENSG00000198720.13:ENST00000394859.8:exon10:c.G1083A:p.L361L 17q11.2 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD13B 149 22 130 12 0.0845070422535211 TRUE NA ENSG00000198720.13 . BCM GRCh38.p13 chr17 29611998 29611998 + G G A Silent SNP ENST00000394859.8 exon10 c.G1092A p.K364K exonic ENSG00000198720.13 . synonymous SNV ENSG00000198720.13:ENST00000394859.8:exon10:c.G1092A:p.K364K 17q11.2 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD13B 136 0 117 9 0.0714285714285714 TRUE TRUE ENSG00000120071.14 . BCM GRCh38.p13 chr17 46034256 46034256 + C C T Silent SNP ENST00000432791.6 exon11 c.G2571A p.E857E exonic ENSG00000120071.14 . synonymous SNV ENSG00000120071.14:ENST00000432791.6:exon11:c.G2571A:p.E857E 17q21.31 C3L-02463 8.24e-06 0 0 0 0 1.499e-05 0 0 rs760065547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANSL1 520 0 515 77 0.130067567567568 TRUE NA ENSG00000121064.13 . BCM GRCh38.p13 chr17 56997003 56997003 + C C T Silent SNP ENST00000262288.8 exon9 c.C828T p.S276S exonic ENSG00000121064.13 . synonymous SNV ENSG00000121064.13:ENST00000262288.8:exon9:c.C828T:p.S276S 17q22 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCPEP1 182 0 95 17 0.151785714285714 TRUE TRUE ENSG00000198597.9 . BCM GRCh38.p13 chr19 30549078 30549078 + G G A Silent SNP ENST00000355537.4 exon4 c.G3459A p.T1153T exonic ENSG00000198597.9 . synonymous SNV ENSG00000198597.9:ENST00000355537.4:exon4:c.G3459A:p.T1153T 19q12 C3L-02463 0.0002 0 0 0.0025 0 3.001e-05 0 0 rs199740602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF536 493 0 338 82 0.195238095238095 TRUE NA ENSG00000254038.1 . BCM GRCh38.p13 chr8 37067622 37067622 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254038.1 . . . 8p11.23 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092818.1 276 1 240 68 0.220779220779221 TRUE NA ENSG00000143954.13 . BCM GRCh38.p13 chr2 79026102 79026103 + TC TC AA Unknown MNP ENST00000272324.10 exon2 c.9_10delinsAA p.P4T exonic ENSG00000143954.13 . nonframeshift substitution ENSG00000143954.13:ENST00000272324.10:exon2:c.9_10delinsAA:p.P4T 2p12 C3L-02463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REG3G 427 0 289 58 0.167146974063401 NA TRUE ENSG00000033122.21 . BCM GRCh38.p13 chr1 70107753 70107753 + G G T Missense_Mutation SNP ENST00000651989.2 exon26 c.G4547T p.G1516V exonic ENSG00000033122.21 . nonsynonymous SNV ENSG00000033122.21:ENST00000651989.2:exon26:c.G4547T:p.G1516V 1p31.1 C3N-00249 . . . . . . . . . 16.20 D D D D D D M T D 0.964 T T D 0.763 0.728 0.895 2.726 D T D D D D 4.811 33 0.998 D D 0.928 11.789 0.912 14.252 1.000 0.500 0.574 0.574 0.504 . 5.710 5.710 9.019 1.176 0.676 1.000 1.000 1.000 899 PDZ_domain . . . LRRC7 210 0 164 74 0.310924369747899 TRUE TRUE ENSG00000118257.16 . BCM GRCh38.p13 chr2 205743431 205743431 + G G A Missense_Mutation SNP ENST00000360409.7 exon9 c.G1520A p.R507H exonic ENSG00000118257.16 . nonsynonymous SNV ENSG00000118257.16:ENST00000360409.7:exon9:c.G1520A:p.R507H 2q33.3 C3N-00249 0.0001 0 0 0 0 0 0 0.0008 rs537993529 17.20 D D D D D D L D D 0.677 D D D 0.636 0.655 0.987 0.928 T D T D D D 4.179 28.500 0.999 D D 0.590 5.825 0.559 5.745 1.000 0.707 0.588 0.725 0.714 . 5.960 5.960 7.573 1.106 0.676 1.000 0.959 0.927 802 Coagulation_factor_5/8_C-terminal_domain . . ID=COSV55933480;OCCURENCE=1(oesophagus),1(large_intestine) NRP2 447 0 577 181 0.238786279683377 TRUE TRUE ENSG00000144671.10 . BCM GRCh38.p13 chr3 38313096 38313096 + A A C Missense_Mutation SNP ENST00000273173.4 exon5 c.A1042C p.I348L exonic ENSG00000144671.10 . nonsynonymous SNV ENSG00000144671.10:ENST00000273173.4:exon5:c.A1042C:p.I348L 3p22.2 C3N-00249 . . . . . . . . . 3.20 T T P P D N L T N 0.309 T T D 0.229 0.564 0.178 0.514 T T T T D T 2.061 19.720 0.944 N N -0.770 0.699 -0.878 0.650 0.975 0.497 0.563 0.547 0.542 . 4.140 2.940 0.439 1.169 0.691 0.031 0.904 0.533 553 Major_facilitator_superfamily_domain . . . SLC22A14 208 0 350 96 0.2152466367713 TRUE TRUE ENSG00000087116.16 . BCM GRCh38.p13 chr5 179121661 179121661 + T T C Missense_Mutation SNP ENST00000251582.12 exon21 c.A3178G p.K1060E exonic ENSG00000087116.16 . nonsynonymous SNV ENSG00000087116.16:ENST00000251582.12:exon21:c.A3178G:p.K1060E 5q35.3 C3N-00249 . . . . . . . . . 7.19 T T B B D D M T N 0.266 T T D 0.076 0.258 0.583 0.678 T T T T D . 3.100 23.600 0.986 D D -0.145 2.037 0.073 2.627 0.999 0.701 0.588 0.717 0.613 . 5.740 5.740 5.394 1.033 0.647 1.000 1.000 0.990 712 PLAC . . . ADAMTS2 49 0 47 20 0.298507462686567 TRUE TRUE ENSG00000155660.11 . BCM GRCh38.p13 chr7 149006053 149006053 + C C T Missense_Mutation SNP ENST00000652332.1 exon8 c.G1132A p.G378S exonic ENSG00000155660.11 . nonsynonymous SNV ENSG00000155660.11:ENST00000652332.1:exon8:c.G1132A:p.G378S 7q36.1 C3N-00249 . . . . . . . . . 4.20 T T B B N D M T N 0.181 T T T 0.028 0.234 0.261 0.083 T T T T T T 1.265 14.130 0.861 D D -0.420 1.340 -0.353 1.459 1.000 0.632 0.698 0.780 0.636 . 5.110 3.310 3.030 1.005 0.599 1.000 0.250 0.236 884 . . . . PDIA4 158 0 235 78 0.249201277955272 TRUE TRUE ENSG00000040341.18 . BCM GRCh38.p13 chr8 73617341 73617341 + T T G Missense_Mutation SNP ENST00000524300.6 exon7 c.A521C p.K174T exonic ENSG00000040341.18 . nonsynonymous SNV ENSG00000040341.18:ENST00000524300.6:exon7:c.A521C:p.K174T 8q21.11 C3N-00249 . . . . . . . . . 18.20 D D D D D D M T D 0.747 D D D 0.855 0.600 0.467 0.859 D T D D D D 4.041 27.300 0.998 D D 0.759 8.031 0.713 8.012 1.000 0.706 0.725 0.710 0.714 . 5.100 5.100 7.456 1.138 0.665 1.000 0.999 0.993 894 Double-stranded_RNA-binding_domain . . . STAU2 251 0 236 52 0.180555555555556 TRUE TRUE ENSG00000174885.12 . BCM GRCh38.p13 chr11 280354 280354 + G G C Missense_Mutation SNP ENST00000312165.5 exon4 c.G620C p.G207A exonic ENSG00000174885.12 . nonsynonymous SNV ENSG00000174885.12:ENST00000312165.5:exon4:c.G620C:p.G207A 11p15.5 C3N-00249 . . . . . . . . . 17.19 D D D D N D . D D 0.730 D D D 0.804 0.967 0.381 . D D D D D T 4.297 29.600 0.996 D D 0.702 7.143 0.542 5.563 1.000 0.765 0.628 0.600 0.639 . 3.400 2.480 9.339 1.089 0.490 1.000 1.000 0.995 889 NACHT_nucleoside_triphosphatase . . . NLRP6 74 0 144 46 0.242105263157895 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227342 25227342 + T T C Missense_Mutation SNP ENST00000256078.10 exon3 c.A182G p.Q61R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A182G:p.Q61R 12p12.1 C3N-00249 . . . . . . . . rs121913240 18.20 D D B B D D M D D 0.816 D D D 0.799 0.671 0.925 2.034 D D D D D D 2.716 22.900 0.998 D D 0.433 4.556 0.532 5.469 1.000 0.722 0.710 0.710 0.735 . 5.770 5.770 8.004 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55498739;OCCURENCE=1(oesophagus),3(genital_tract),1(cervix),40(large_intestine),1(central_nervous_system),2(biliary_tract),3(stomach),11(haematopoietic_and_lymphoid_tissue),40(pancreas),5(skin),1(prostate),11(lung),43(thyroid),1(upper_aerodigestive_tract) KRAS 227 0 235 65 0.216666666666667 TRUE TRUE ENSG00000256870.3 . BCM GRCh38.p13 chr12 101209509 101209509 + T T C Missense_Mutation SNP ENST00000536262.3 exon1 c.A340G p.S114G exonic ENSG00000256870.3 . nonsynonymous SNV ENSG00000256870.3:ENST00000536262.3:exon1:c.A340G:p.S114G 12q23.2 C3N-00249 . . . . . . . . . 18.19 D D D D D D H D D 0.933 D D D 0.947 0.773 0.577 0.508 T D D D D . 4.162 28.300 0.998 D D 0.918 11.518 0.845 11.588 1.000 0.487 0.574 0.607 0.530 . 5.490 5.490 8.017 1.138 0.609 1.000 0.995 0.975 882 . . . . SLC5A8 87 0 83 27 0.245454545454545 TRUE TRUE ENSG00000198718.13 . BCM GRCh38.p13 chr14 45004214 45004214 + C C T Missense_Mutation SNP ENST00000361577.7 exon4 c.C2492T p.S831F exonic ENSG00000198718.13 . nonsynonymous SNV ENSG00000198718.13:ENST00000361577.7:exon4:c.C2492T:p.S831F 14q21.2 C3N-00249 . . . . . . . . . 9.19 D D D D N D . T D 0.589 T T D 0.135 0.175 0.405 0.357 T T T T D T 2.866 23.100 0.998 D N 0.344 4.015 0.312 3.787 0.080 0.615 0.602 0.659 0.636 . 3.740 3.740 2.527 0.797 0.473 0.992 0.975 0.707 762 . . . . TOGARAM1 328 0 540 86 0.137380191693291 TRUE TRUE ENSG00000126822.17 . BCM GRCh38.p13 chr14 64741445 64741445 + G G T Missense_Mutation SNP ENST00000247226.13 exon16 c.G1928T p.S643I exonic ENSG00000126822.17 . nonsynonymous SNV ENSG00000126822.17:ENST00000247226.13:exon16:c.G1928T:p.S643I 14q23.3 C3N-00249 . . . . . . . . . 15.20 D D D D D D M T D 0.767 T T D 0.282 0.321 0.658 0.672 T T D D D D 3.753 25.600 0.996 D D 0.784 8.482 0.784 9.656 1.000 0.672 0.574 0.702 0.636 . 5.780 5.780 4.338 1.176 0.676 1.000 0.998 0.829 407 . . . . PLEKHG3 194 0 258 64 0.198757763975155 TRUE NA ENSG00000185070.11 . BCM GRCh38.p13 chr14 85621528 85621528 + C C A Missense_Mutation SNP ENST00000330753.6 exon2 c.C14A p.T5N exonic ENSG00000185070.11 . nonsynonymous SNV ENSG00000185070.11:ENST00000330753.6:exon2:c.C14A:p.T5N 14q31.3 C3N-00249 . . . . . . . . . 7.20 D D P P D D L T N 0.424 T T T 0.164 0.289 0.374 0.477 T T T T D T 2.983 23.400 0.992 D D 0.383 4.241 0.438 4.640 1.000 0.707 0.574 0.574 0.714 . 5.880 4.970 3.533 1.026 0.597 1.000 1.000 0.999 944 . . . . FLRT2 113 1 149 39 0.207446808510638 TRUE TRUE ENSG00000254585.5 . BCM GRCh38.p13 chr15 23644876 23644876 + C C A Missense_Mutation SNP ENST00000650528.1 exon1 c.G2867T p.S956I exonic ENSG00000254585.5 . nonsynonymous SNV ENSG00000254585.5:ENST00000650528.1:exon1:c.G2867T:p.S956I 15q11.2 C3N-00249 . . . . . . . . . 4.11 . D . . . N . . . 0.126 . . D . . 0.043 0.348 T T T T D T 3.152 23.700 0.996 D N 0.126 2.989 0.130 2.861 0.955 0.581 0.574 0.576 0.613 . 3.940 3.010 0.508 0.103 0.599 0.001 0.452 0.999 988 . . . . MAGEL2 159 0 247 81 0.246951219512195 TRUE TRUE ENSG00000153684.15 . BCM GRCh38.p13 chr15 28385229 28385229 + G G A Missense_Mutation SNP ENST00000526619.6 exon11 c.G364A p.E122K exonic ENSG00000153684.15 . nonsynonymous SNV ENSG00000153684.15:ENST00000526619.6:exon11:c.G364A:p.E122K 15q13.1 C3N-00249 . . . . . . . . . 1.14 T T B B . D . T N 0.073 . . T . . 0.068 1.565 . T T T . T 0.086 1.968 0.450 N N . . . . 0.000 0.487 0.574 0.574 0.564 . 0.647 -1.290 0.059 -5.325 -0.946 0.001 0.000 0.001 421 . . . . GOLGA8F 228 0 363 28 0.0716112531969309 NA TRUE ENSG00000273540.4 . BCM GRCh38.p13 chr15 86522898 86522898 + G G A Missense_Mutation SNP ENST00000441037.7 exon19 c.G2644A p.G882S exonic ENSG00000273540.4 . nonsynonymous SNV ENSG00000273540.4:ENST00000441037.7:exon19:c.G2644A:p.G882S 15q25.3 C3N-00249 . . . . . . . . . 8.19 T . D D D D L T N . T T T 0.259 0.520 0.371 0.044 T T T T D D 3.124 23.700 0.998 D D 0.598 5.902 0.639 6.754 0.366 0.487 0.574 0.574 0.564 . 5.930 5.930 4.972 1.176 0.676 1.000 0.941 0.767 942 Peptidase_M14,_carboxypeptidase_A . . . AGBL1 173 0 270 126 0.318181818181818 TRUE TRUE ENSG00000166816.14 . BCM GRCh38.p13 chr16 75112502 75112502 + C C T Missense_Mutation SNP ENST00000300051.8 exon11 c.G1378A p.G460R exonic ENSG00000166816.14 . nonsynonymous SNV ENSG00000166816.14:ENST00000300051.8:exon11:c.G1378A:p.G460R 16q23.1 C3N-00249 . . . . . . . . . 19.20 D D D D D D H D D 0.929 D D D 0.955 0.932 0.978 0.956 T D D D D D 4.256 29.200 0.999 D D 0.989 13.567 0.862 12.220 1.000 0.560 0.551 0.269 0.632 . 5.270 5.270 7.190 1.026 0.599 1.000 0.829 0.564 719 FAD-linked_oxidase,_C-terminal . . . LDHD 118 0 216 12 0.0526315789473684 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7676176 7676176 + T T A Nonsense_Mutation SNP ENST00000269305.8 exon4 c.A193T p.R65X exonic ENSG00000141510.17 . stopgain ENSG00000141510.17:ENST00000269305.8:exon4:c.A193T:p.R65X 17p13.1 C3N-00249 . . . . . . . . . 3.6 . . . . N A . . . 0.836 . . . . . . . . . D D . . 4.914 33 0.963 N N -0.194 1.892 -0.612 1.028 0.204 0.722 0.702 0.699 0.735 . 3.840 -2.610 0.219 0.119 0.661 0.000 0.001 0.002 434 . . . ID=COSV52689560;OCCURENCE=1(breast),1(large_intestine),1(ovary),1(haematopoietic_and_lymphoid_tissue),5(urinary_tract),7(lung) TP53 261 0 276 93 0.252032520325203 TRUE TRUE ENSG00000141161.11 . BCM GRCh38.p13 chr17 35177041 35177041 + G G A Missense_Mutation SNP ENST00000268876.9 exon16 c.G2056A p.G686S exonic ENSG00000141161.11 . nonsynonymous SNV ENSG00000141161.11:ENST00000268876.9:exon16:c.G2056A:p.G686S 17q12 C3N-00249 . . . . . . . . . 14.20 D T D D D D M T D 0.800 T T D 0.273 0.350 0.845 0.138 T T D D D D 3.463 24.600 0.999 D D 0.531 5.288 0.583 6.016 1.000 0.487 0.574 0.547 0.530 . 5.080 5.080 6.662 1.164 0.662 1.000 1.000 0.998 907 . . . . UNC45B 124 0 230 51 0.181494661921708 TRUE NA ENSG00000183048.12 . BCM GRCh38.p13 chr17 81716026 81716026 + A A G Missense_Mutation SNP ENST00000350690.10 exon5 c.A395G p.K132R exonic ENSG00000183048.12;ENSG00000262660.1 . nonsynonymous SNV ENSG00000183048.12:ENST00000350690.10:exon5:c.A395G:p.K132R,ENSG00000262660.1:ENST00000571730.1:exon9:c.A860G:p.K287R 17q25.3 C3N-00249 . . . . . . . . . 11.20 D T B B D D L T D 0.483 T T D 0.514 0.401 0.786 0.293 T D D T D D 2.840 23.100 0.998 D D -0.219 1.825 -0.146 1.920 1.000 0.672 0.702 0.723 0.563 . 3.900 3.900 5.779 1.180 0.660 1.000 0.877 0.534 . . . . . SLC25A10 132 0 112 59 0.345029239766082 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51065555 51065555 + G G A Missense_Mutation SNP ENST00000342988.8 exon9 c.G1088A p.C363Y exonic ENSG00000141646.14 . nonsynonymous SNV ENSG00000141646.14:ENST00000342988.8:exon9:c.G1088A:p.C363Y 18q21.2 C3N-00249 . . . . . . . . rs876660556 20.20 D D D D D D H D D 0.982 D D D 0.977 0.919 0.992 4.220 D D D D D D 4.241 29.000 0.998 D D 1.085 16.898 1.025 20.435 1.000 0.707 0.725 0.725 0.714 . 5.860 5.860 9.808 1.176 0.676 1.000 1.000 0.995 904 SMAD_domain,_Dwarfin-type . . ID=COSV61684006;OCCURENCE=2(large_intestine),1(biliary_tract),1(stomach) SMAD4 209 0 176 76 0.301587301587302 TRUE TRUE ENSG00000104899.8 . BCM GRCh38.p13 chr19 2250751 2250751 + C C T Missense_Mutation SNP ENST00000221496.5 exon3 c.C655T p.R219C exonic ENSG00000104899.8 . nonsynonymous SNV ENSG00000104899.8:ENST00000221496.5:exon3:c.C655T:p.R219C 19p13.3 C3N-00249 0.0003 0 0 0 0 0 0 0.0004 rs747303126 7.20 T D D P N N L D D 0.142 T D D 0.260 0.602 0.801 0.003 T D T T T T 2.368 21.900 0.959 N N -0.162 1.986 -0.367 1.433 0.999 0.650 0.551 0.607 0.621 . 4.530 3.460 0.880 -0.029 0.511 0.000 0.001 0.017 982 Anti-Mullerian_hormone,_N-terminal . . . AMH 157 0 220 104 0.320987654320988 TRUE NA ENSG00000004777.18 . BCM GRCh38.p13 chr19 35787546 35787546 + G G A Missense_Mutation SNP ENST00000314737.9 exon21 c.G2498A p.R833Q exonic ENSG00000004777.18 . nonsynonymous SNV ENSG00000004777.18:ENST00000314737.9:exon21:c.G2498A:p.R833Q 19q13.12 C3N-00249 8.792e-06 0 0 0 0 1.615e-05 0 0 rs763084663 8.18 D T D D D D . T N 0.346 T T T 0.084 . 0.413 0.482 T . T T D D 3.355 24.300 0.999 D N 0.233 3.452 0.257 3.477 0.388 0.706 0.710 0.723 0.655 . 4.770 3.650 1.058 1.176 0.676 0.002 0.993 0.960 744 . . . ID=COSV99139014;OCCURENCE=1(stomach) ARHGAP33 206 0 386 35 0.0831353919239905 TRUE NA ENSG00000125966.10 . BCM GRCh38.p13 chr20 35271748 35271748 + G G A Missense_Mutation SNP ENST00000246186.8 exon8 c.G1513A p.A505T exonic ENSG00000125966.10 . nonsynonymous SNV ENSG00000125966.10:ENST00000246186.8:exon8:c.G1513A:p.A505T 20q11.22 C3N-00249 . . . . . . . . . 5.20 T T B B D D N T N 0.127 T T T 0.106 0.328 0.432 0.525 T T T T D D 2.085 19.900 0.901 D N -0.281 1.662 0.008 2.386 1.000 0.635 0.551 0.644 0.664 . 5.600 5.600 4.371 1.176 0.676 1.000 0.992 0.937 439 Hemopexin-like_domain . . . MMP24 287 0 493 117 0.191803278688525 TRUE NA ENSG00000198765.12 . BCM GRCh38.p13 chr1 114926277 114926277 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000198765.12 ENST00000369522.8:exon22:c.1801-1G>A . . 1p13.2 C3N-00249 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.278 33 0.992 D . 1.005 14.082 0.821 10.762 0.002 0.061 0.063 0.063 0.057 0.958 4.370 4.370 5.006 1.155 0.618 1.000 0.998 0.987 265 . . . . SYCP1 29 0 19 12 0.387096774193548 NA TRUE ENSG00000126838.10 . BCM GRCh38.p13 chr12 9161117 9161117 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000126838.10 ENST00000261336.7:exon23:c.2789-1G>T . . 12p13.31 C3N-00249 . . . . . . . . . 3.4 . . . . . D . . . . . . . . . . . . . D T . . 3.157 23.800 0.972 D . 0.597 5.892 0.296 3.691 0.600 0.054 0.060 0.060 0.059 0.915 3.800 3.800 2.469 0.710 0.530 0.968 0.138 0.043 657 . . . . PZP 91 1 123 40 0.245398773006135 TRUE TRUE ENSG00000116213.16 . BCM GRCh38.p13 chr1 3635208 3635208 + G G A Silent SNP ENST00000270708.12 exon7 c.C690T p.A230A exonic ENSG00000116213.16 . synonymous SNV ENSG00000116213.16:ENST00000270708.12:exon7:c.C690T:p.A230A 1p36.32 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WRAP73 257 0 352 79 0.183294663573086 TRUE TRUE ENSG00000197532.2 . BCM GRCh38.p13 chr1 158548004 158548004 + G G A Silent SNP ENST00000641622.1 exon2 c.C102T p.S34S exonic ENSG00000197532.2 . synonymous SNV ENSG00000197532.2:ENST00000641622.1:exon2:c.C102T:p.S34S 1q23.1 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56929514;OCCURENCE=2(skin) OR6Y1 260 4 364 59 0.139479905437352 TRUE TRUE ENSG00000173769.4 . BCM GRCh38.p13 chr3 44243808 44243808 + G G A Silent SNP ENST00000309765.4 exon2 c.G1302A p.P434P exonic ENSG00000173769.4 . synonymous SNV ENSG00000173769.4:ENST00000309765.4:exon2:c.G1302A:p.P434P 3p21.31 C3N-00249 0.0012 0.0009 0 0.0049 0 0.0006 0 0.0022 rs144334708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59066058;OCCURENCE=1(large_intestine),1(biliary_tract),2(pancreas) TOPAZ1 189 0 238 52 0.179310344827586 TRUE TRUE ENSG00000261934.2 . BCM GRCh38.p13 chr5 141403189 141403189 + G G C Silent SNP ENST00000573521.1 exon1 c.G237C p.P79P exonic ENSG00000261934.2 . synonymous SNV ENSG00000261934.2:ENST00000573521.1:exon1:c.G237C:p.P79P 5q31.3 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA9 192 0 296 81 0.214854111405836 TRUE TRUE ENSG00000135298.14 . BCM GRCh38.p13 chr6 69339393 69339393 + G G A Silent SNP ENST00000370598.6 exon26 c.G3348A p.A1116A exonic ENSG00000135298.14 . synonymous SNV ENSG00000135298.14:ENST00000370598.6:exon26:c.G3348A:p.A1116A 6q13 C3N-00249 5.767e-05 0 0 0 0 0.0001 0 0 rs188479310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRB3 112 0 181 32 0.150234741784038 TRUE NA ENSG00000198670.12 . BCM GRCh38.p13 chr6 160650430 160650430 + C C T Silent SNP ENST00000316300.10 exon2 c.G117A p.T39T exonic ENSG00000198670.12 . synonymous SNV ENSG00000198670.12:ENST00000316300.10:exon2:c.G117A:p.T39T 6q26 C3N-00249 9.09e-05 0 0.0002 0.0008 0 2.997e-05 0 0 rs372624567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60297950;OCCURENCE=3(liver),3(large_intestine),1(stomach),1(endometrium) LPA 407 0 687 187 0.21395881006865 TRUE TRUE ENSG00000146731.11 . BCM GRCh38.p13 chr7 56058485 56058485 + C C T Silent SNP ENST00000275603.9 exon7 c.C849T p.G283G exonic ENSG00000146731.11 . synonymous SNV ENSG00000146731.11:ENST00000275603.9:exon7:c.C849T:p.G283G 7p11.2 C3N-00249 3.344e-05 0 0 0 0 3.034e-05 0 0.0001 rs754612296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51906522;OCCURENCE=1(liver) CCT6A 73 0 93 28 0.231404958677686 NA TRUE ENSG00000106333.13 . BCM GRCh38.p13 chr7 100606542 100606542 + C C T Silent SNP ENST00000223061.6 exon6 c.C852T p.P284P exonic ENSG00000106333.13 . synonymous SNV ENSG00000106333.13:ENST00000223061.6:exon6:c.C852T:p.P284P 7q22.1 C3N-00249 1.653e-05 0 0 0 0 1.503e-05 0 6.078e-05 rs757331910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCOLCE 139 0 143 90 0.386266094420601 TRUE NA ENSG00000132275.11 . BCM GRCh38.p13 chr11 6600980 6600980 + A A G Silent SNP ENST00000254605.11 exon4 c.T993C p.H331H exonic ENSG00000132275.11 . synonymous SNV ENSG00000132275.11:ENST00000254605.11:exon4:c.T993C:p.H331H 11p15.4 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RRP8 218 0 337 69 0.169950738916256 TRUE TRUE ENSG00000111358.14 . BCM GRCh38.p13 chr12 123659530 123659530 + G G A Silent SNP ENST00000543341.7 exon10 c.G630A p.T210T exonic ENSG00000111358.14 . synonymous SNV ENSG00000111358.14:ENST00000543341.7:exon10:c.G630A:p.T210T 12q24.31 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GTF2H3 401 0 574 147 0.203883495145631 TRUE TRUE ENSG00000211921.1 . BCM GRCh38.p13 chr14 105902660 105902660 + C C A Silent SNP ENST00000390581.1 exon1 c.G12T p.V4V exonic ENSG00000211921.1 . synonymous SNV ENSG00000211921.1:ENST00000390581.1:exon1:c.G12T:p.V4V 14q32.33 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHD5-12 123 0 280 33 0.105431309904153 NA TRUE ENSG00000007541.17 . BCM GRCh38.p13 chr16 578466 578466 + C C T Silent SNP ENST00000026218.9 exon5 c.C1030T p.L344L exonic ENSG00000007541.17 . synonymous SNV ENSG00000007541.17:ENST00000026218.9:exon5:c.C1030T:p.L344L 16p13.3 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIGQ 133 0 298 59 0.165266106442577 TRUE TRUE ENSG00000178773.15 . BCM GRCh38.p13 chr16 89588779 89588779 + C C T Silent SNP ENST00000268720.9 exon12 c.C1257T p.S419S exonic ENSG00000178773.15 . synonymous SNV ENSG00000178773.15:ENST00000268720.9:exon12:c.C1257T:p.S419S 16q24.3 C3N-00249 8.328e-05 0.0002 0 0 0 0.0001 0 6.061e-05 rs143506526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPNE7 185 0 233 73 0.238562091503268 TRUE NA ENSG00000120071.14 . BCM GRCh38.p13 chr17 46031683 46031683 + C C T Silent SNP ENST00000432791.6 exon15 c.G3111A p.R1037R exonic ENSG00000120071.14 . synonymous SNV ENSG00000120071.14:ENST00000432791.6:exon15:c.G3111A:p.R1037R 17q21.31 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KANSL1 94 0 119 34 0.222222222222222 TRUE TRUE ENSG00000227500.10 . BCM GRCh38.p13 chr19 1918916 1918916 + G G A Silent SNP ENST00000316097.13 exon5 c.G321A p.A107A exonic ENSG00000227500.10 . synonymous SNV ENSG00000227500.10:ENST00000316097.13:exon5:c.G321A:p.A107A 19p13.3 C3N-00249 3.651e-05 0 0.0002 0 0 4.356e-05 0 0 rs370734476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60192391;OCCURENCE=1(stomach) SCAMP4 212 0 241 59 0.196666666666667 TRUE TRUE ENSG00000178093.14 . BCM GRCh38.p13 chr19 19514621 19514621 + G G A Silent SNP ENST00000585580.4 exon1 c.C807T p.A269A exonic ENSG00000178093.14 . synonymous SNV ENSG00000178093.14:ENST00000585580.4:exon1:c.C807T:p.A269A 19p13.11 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSSK6 68 0 91 33 0.266129032258065 TRUE TRUE ENSG00000099338.23 . BCM GRCh38.p13 chr19 38370198 38370198 + C C T Silent SNP ENST00000409235.8 exon28 c.C3153T p.T1051T exonic ENSG00000099338.23 . synonymous SNV ENSG00000099338.23:ENST00000409235.8:exon28:c.C3153T:p.T1051T 19q13.2 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CATSPERG 232 1 416 69 0.142268041237113 TRUE NA ENSG00000185008.17 . BCM GRCh38.p13 chr3 77642683 77642683 + C C T Intron SNP NA NA NA NA intronic ENSG00000185008.17 . . . 3p12.3 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ROBO2 272 0 308 84 0.214285714285714 TRUE NA ENSG00000106638.17 . BCM GRCh38.p13 chr7 73576642 73576642 + G G C Intron SNP NA NA NA NA intronic ENSG00000106638.17 . . . 7q11.23 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBL2 180 0 188 65 0.256916996047431 TRUE NA ENSG00000240632.6 . BCM GRCh38.p13 chr9 81916212 81916212 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000240632.6 . . . 9q21.32 C3N-00249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPATA31D5P 113 0 217 50 0.187265917602996 TRUE NA ENSG00000186431.19 . BCM GRCh38.p13 chr19 54874288 54874288 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000186431.19 ENST00000355524.8:c.-2C>T . . 19q13.42 C3N-00249 3.295e-05 0 0 0 0 1.499e-05 0 0.0002 rs773500089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100628994;OCCURENCE=1(liver),1(haematopoietic_and_lymphoid_tissue) FCAR 189 0 244 49 0.167235494880546 TRUE NA ENSG00000116809.11 . BCM GRCh38.p13 chr1 15948368 15948368 + G G A Missense_Mutation SNP ENST00000375743.8 exon3 c.C128T p.A43V exonic ENSG00000116809.11 . nonsynonymous SNV ENSG00000116809.11:ENST00000375743.8:exon3:c.C128T:p.A43V 1p36.13 C3L-00589 8.255e-06 0 0 0 0 1.503e-05 0 0 rs757761976 16.20 D D D D D D M T N 0.894 D D D 0.727 0.766 0.790 1.238 T T D D D D 4.298 29.600 0.999 D D 0.999 13.878 0.935 15.343 1.000 0.742 0.602 0.775 0.711 . 5.300 5.300 9.962 1.176 0.676 1.000 0.999 0.997 410 BTB/POZ_domain . . ID=COSV100998986;OCCURENCE=1(urinary_tract) ZBTB17 474 1 959 73 0.0707364341085271 TRUE NA ENSG00000142949.17 . BCM GRCh38.p13 chr1 43591194 43591194 + C C T Missense_Mutation SNP ENST00000359947.9 exon9 c.C1172T p.A391V exonic ENSG00000142949.17 . nonsynonymous SNV ENSG00000142949.17:ENST00000359947.9:exon9:c.C1172T:p.A391V 1p34.2 C3L-00589 2.625e-05 0.0001 0 0 0 3.206e-05 0 0 rs746910917 17.20 D D D D N D H T D 0.898 D D D 0.578 0.804 0.825 1.597 D T D D D D 4.013 27.100 0.999 D D 0.772 8.254 0.754 8.884 1.000 0.707 0.588 0.723 0.714 . 5.480 5.480 7.905 1.026 0.599 1.000 0.985 0.944 652 Fibronectin_type_III . . ID=COSV63447231;OCCURENCE=2(lung) PTPRF 97 0 292 26 0.0817610062893082 TRUE TRUE ENSG00000116783.15 . BCM GRCh38.p13 chr1 74439607 74439607 + G G A Missense_Mutation SNP ENST00000326637.8 exon20 c.G1996A p.A666T exonic ENSG00000116783.15;ENSG00000259030.7 . nonsynonymous SNV ENSG00000116783.15:ENST00000326637.8:exon20:c.G1996A:p.A666T,ENSG00000259030.7:ENST00000557284.6:exon22:c.G2338A:p.A780T 1p31.1 C3L-00589 0.0008 0.0084 0.0005 0 0 1.5e-05 0.0011 0 rs148931950 10.19 T D D P D D N D N 0.648 T T D 0.549 . 0.844 0.078 . T T D T D 2.997 23.400 0.999 D D 0.466 4.784 0.500 5.156 0.969 0.487 0.574 0.574 0.564 . 5.870 4.940 5.362 1.106 0.509 1.000 0.988 0.382 890 Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV100437552;OCCURENCE=1(prostate) TNNI3K 169 0 202 20 0.0900900900900901 TRUE NA ENSG00000085433.15 . BCM GRCh38.p13 chr1 108991294 108991294 + C C A Missense_Mutation SNP ENST00000369962.7 exon9 c.G1727T p.G576V exonic ENSG00000085433.15 . nonsynonymous SNV ENSG00000085433.15:ENST00000369962.7:exon9:c.G1727T:p.G576V 1p13.3 C3L-00589 . . . . . . . . . 4.20 D T B B N D L T N 0.224 T T T 0.068 0.383 0.155 0.054 T T T T T D 3.255 24.000 0.967 D N -0.160 1.992 0.033 2.476 0.004 0.707 0.546 0.602 0.714 . 5.230 4.260 1.262 1.008 0.599 1.000 1.000 0.994 861 . . . . WDR47 248 1 109 11 0.0916666666666667 TRUE TRUE ENSG00000198929.13 . BCM GRCh38.p13 chr1 162367087 162367087 + C C T Missense_Mutation SNP ENST00000361897.10 exon10 c.C1141T p.R381C exonic ENSG00000198929.13 . nonsynonymous SNV ENSG00000198929.13:ENST00000361897.10:exon10:c.C1141T:p.R381C 1q23.3 C3L-00589 . . . . . . . . . 18.20 D D D P D D M D D 0.690 D D D 0.788 0.669 0.851 2.365 T D D D D D 4.228 28.900 0.999 D D 0.434 4.559 0.435 4.618 1.000 0.706 0.590 0.710 0.636 . 4.800 3.880 7.245 0.952 0.599 1.000 0.973 0.823 862 . . . ID=COSV62633557;OCCURENCE=1(prostate) NOS1AP 231 0 703 48 0.0639147802929427 TRUE TRUE ENSG00000116147.17 . BCM GRCh38.p13 chr1 175362804 175362804 + G G A Nonsense_Mutation SNP ENST00000367674.7 exon14 c.C2713T p.R905X exonic ENSG00000116147.17 . stopgain ENSG00000116147.17:ENST00000367674.7:exon14:c.C2713T:p.R905X 1q25.1 C3L-00589 . . . . . . . . . 5.6 . . . . D A . . . 0.983 . . . . . . . . . D D . . 8.118 41 0.998 D N 0.682 6.876 0.536 5.507 0.938 0.601 0.590 0.547 0.620 . 5.790 3.730 2.592 1.176 0.676 0.998 0.997 0.975 595 Fibronectin_type_III . . . TNR 137 0 206 16 0.0720720720720721 TRUE NA ENSG00000152092.16 . BCM GRCh38.p13 chr1 176957766 176957766 + G G A Missense_Mutation SNP ENST00000361833.7 exon11 c.C1799T p.P600L exonic ENSG00000152092.16 . nonsynonymous SNV ENSG00000152092.16:ENST00000361833.7:exon11:c.C1799T:p.P600L 1q25.2 C3L-00589 2.488e-05 0 8.717e-05 0.0001 0 1.506e-05 0 0 rs770266633 15.19 D D D D D D . T D 0.987 T T D 0.481 . 0.608 0.870 D T D D D D 4.061 27.400 0.999 D D 0.724 7.469 0.751 8.815 1.000 0.713 0.574 0.609 0.564 . 5.580 5.580 9.564 1.176 0.674 1.000 0.716 0.714 697 . . . ID=COSV56089388;OCCURENCE=1(soft_tissue) ASTN1 266 2 529 30 0.0536672629695885 TRUE TRUE ENSG00000009790.15 . BCM GRCh38.p13 chr1 209775620 209775620 + C C T Nonsense_Mutation SNP ENST00000367025.8 exon11 c.C937T p.Q313X exonic ENSG00000009790.15 . stopgain ENSG00000009790.15:ENST00000367025.8:exon11:c.C937T:p.Q313X 1q32.2 C3L-00589 . . . . . . . . . 4.6 . . . . N A . . . 0.346 . . . . . . . . . D D . . 7.202 37 0.997 D N 0.913 11.395 0.737 8.505 1.000 0.646 0.696 0.489 0.613 . 4.780 4.780 2.159 1.026 0.599 1.000 0.993 0.867 866 . . . . TRAF3IP3 133 1 205 88 0.300341296928328 TRUE TRUE ENSG00000169214.4 . BCM GRCh38.p13 chr1 247711884 247711884 + G G A Missense_Mutation SNP ENST00000641470.1 exon3 c.C872T p.T291M exonic ENSG00000169214.4 . nonsynonymous SNV ENSG00000169214.4:ENST00000641470.1:exon3:c.C872T:p.T291M 1q44 C3L-00589 4.943e-05 0 0 0.0006 0 1.499e-05 0 0 rs186143987 4.20 D D P B D N M T N 0.334 T T T 0.152 . 0.461 0.312 T T T T T T 2.030 19.490 0.936 N N -0.475 1.227 -0.715 0.878 0.000 0.487 0.574 0.574 0.564 . 3.490 1.490 0.674 -0.027 0.593 0.009 0.068 0.214 952 . . . ID=COSV57467500;OCCURENCE=1(large_intestine),1(urinary_tract) OR6F1 141 0 231 20 0.0796812749003984 TRUE TRUE ENSG00000186487.20 . BCM GRCh38.p13 chr2 1943020 1943020 + T T A Missense_Mutation SNP ENST00000647738.2 exon9 c.A467T p.E156V exonic ENSG00000186487.20 . nonsynonymous SNV ENSG00000186487.20:ENST00000647738.2:exon9:c.A467T:p.E156V 2p25.3 C3L-00589 . . . . . . . . . 4.20 T T P P N D L T N 0.350 T T T 0.118 0.283 0.196 0.619 T T T T D T 2.488 22.400 0.974 D D 0.173 3.187 0.198 3.172 1.000 0.487 0.574 0.547 0.564 . 5.370 5.370 7.128 1.138 0.665 1.000 0.395 0.672 773 . . . . MYT1L 101 1 184 17 0.0845771144278607 TRUE TRUE ENSG00000186487.20 . BCM GRCh38.p13 chr2 1943063 1943063 + C C T Missense_Mutation SNP ENST00000647738.2 exon9 c.G424A p.D142N exonic ENSG00000186487.20 . nonsynonymous SNV ENSG00000186487.20:ENST00000647738.2:exon9:c.G424A:p.D142N 2p25.3 C3L-00589 . . . . . . . . . 3.20 T T B B U D L T N 0.319 T T T 0.095 0.277 0.366 0.514 T T T T T T 1.625 16.530 0.930 D D -0.369 1.452 -0.265 1.639 1.000 0.487 0.574 0.547 0.564 . 4.530 4.530 5.274 1.026 0.599 1.000 0.013 0.122 773 . . . ID=COSV67720977;OCCURENCE=1(breast) MYT1L 174 0 297 26 0.0804953560371517 TRUE TRUE ENSG00000119771.15 . BCM GRCh38.p13 chr2 23642551 23642551 + T T C Missense_Mutation SNP ENST00000486442.6 exon5 c.T641C p.L214P exonic ENSG00000119771.15 . nonsynonymous SNV ENSG00000119771.15:ENST00000486442.6:exon5:c.T641C:p.L214P 2p24.1 C3L-00589 . . . . . . . . . 6.17 D T . . . D N D N 0.351 T T D 0.355 0.214 0.716 . T T T T D T 2.833 23.100 0.992 D N 0.133 3.018 0.253 3.453 1.000 0.646 0.654 0.645 0.636 . 5.160 5.160 3.510 1.137 0.665 1.000 1.000 1.000 930 . . . . KLHL29 57 0 186 33 0.150684931506849 TRUE TRUE ENSG00000066032.18 . BCM GRCh38.p13 chr2 79744519 79744519 + G G A Missense_Mutation SNP ENST00000402739.8 exon2 c.G235A p.A79T exonic ENSG00000066032.18 . nonsynonymous SNV ENSG00000066032.18:ENST00000402739.8:exon2:c.G235A:p.A79T 2p12 C3L-00589 2.5e-05 0 0.0003 0 0 0 0 0 rs377364195 16.20 D D D P D D M T D 0.947 T T D 0.520 . 0.809 1.452 D D D D D D 4.092 27.700 0.999 D D 0.810 8.981 0.808 10.368 1.000 0.693 0.574 0.659 0.564 . 5.500 5.500 10.003 1.176 0.618 1.000 0.999 0.992 943 . . . . CTNNA2 187 0 210 22 0.0948275862068965 TRUE NA ENSG00000155657.27 . BCM GRCh38.p13 chr2 178566151 178566151 + - NA T Frame_Shift_Ins INS ENST00000591111.5 exon276 c.75057dupA p.Y25020Ifs*4 exonic ENSG00000155657.27 . frameshift insertion ENSG00000155657.27:ENST00000591111.5:exon276:c.75057dupA:p.Y25020Ifs*4 2q31.2 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTN NA NA NA NA NA NA NA ENSG00000123989.14 . BCM GRCh38.p13 chr2 219541801 219541801 + C C T Missense_Mutation SNP ENST00000243776.11 exon2 c.G703A p.G235R exonic ENSG00000123989.14 . nonsynonymous SNV ENSG00000123989.14:ENST00000243776.11:exon2:c.G703A:p.G235R 2q35 C3L-00589 . . . . . . . . . 14.20 D D D D D D L T D 0.788 T T D 0.333 0.399 0.519 1.097 T T D D D D 3.669 25.300 0.998 D D 0.489 4.948 0.507 5.222 1.000 0.652 0.749 0.522 0.619 . 4.190 4.190 7.776 1.018 0.589 1.000 0.995 0.996 116 . . . ID=COSV60535208;OCCURENCE=1(cervix) CHPF 151 0 396 41 0.0938215102974828 TRUE TRUE ENSG00000066248.15 . BCM GRCh38.p13 chr2 232892979 232892979 + C C T Missense_Mutation SNP ENST00000264051.8 exon7 c.G1061A p.R354H exonic ENSG00000066248.15 . nonsynonymous SNV ENSG00000066248.15:ENST00000264051.8:exon7:c.G1061A:p.R354H 2q37.1 C3L-00589 1.657e-05 0 0 0.0001 0 1.512e-05 0 0 rs765885436 0.20 T T B B N N N T N 0.068 T T T 0.118 . 0.496 0.800 T T T T T T 0.061 1.766 0.916 N N -1.181 0.241 -1.169 0.310 1.000 0.554 0.574 0.602 0.613 . 5.280 -5.750 0.350 -1.639 -1.081 0.952 0.064 0.166 682 Dbl_homology_(DH)_domain . . ID=COSV50916867;OCCURENCE=2(large_intestine) NGEF 187 0 328 30 0.0837988826815642 TRUE TRUE ENSG00000169855.20 . BCM GRCh38.p13 chr3 78670227 78670227 + C C T Missense_Mutation SNP ENST00000464233.6 exon11 c.G1417A p.V473I exonic ENSG00000169855.20 . nonsynonymous SNV ENSG00000169855.20:ENST00000464233.6:exon11:c.G1417A:p.V473I 3p12.3 C3L-00589 0.0001 0 0 0.0004 0 8.146e-05 0 0.0003 rs778578401 1.20 T T B B N N N T N 0.268 T T T 0.037 0.379 0.322 0.115 T T T T T T 1.591 16.320 0.969 D N -0.459 1.258 -0.315 1.534 0.992 0.707 0.670 0.725 0.564 . 5.980 4.130 1.206 -0.230 0.549 0.885 0.632 0.279 692 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV71394145;OCCURENCE=1(large_intestine),2(endometrium) ROBO1 231 0 337 38 0.101333333333333 TRUE TRUE ENSG00000157765.13 . BCM GRCh38.p13 chr4 25676197 25676202 + CACTCG CACTCG - In_Frame_Del DEL ENST00000382051.8 exon13 c.1521_1526del p.T508_R509del exonic ENSG00000157765.13 . nonframeshift deletion ENSG00000157765.13:ENST00000382051.8:exon13:c.1521_1526del:p.T508_R509del 4p15.2 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC34A2 471 0 759 95 0.111241217798595 TRUE TRUE ENSG00000196159.12 . BCM GRCh38.p13 chr4 125490585 125490585 + A A C Missense_Mutation SNP ENST00000674496.1 exon17 c.A13763C p.N4588T exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon17:c.A13763C:p.N4588T 4q28.1 C3L-00589 . . . . . . . . . 8.20 T D P B U D L T N 0.684 T T D 0.277 0.103 0.204 0.646 D T T T D D 2.493 22.400 0.975 D D 0.142 3.057 0.255 3.464 0.949 0.707 0.574 0.653 0.714 . 4.950 4.950 6.968 1.228 0.658 1.000 0.971 0.997 884 . . . . FAT4 238 1 332 40 0.10752688172043 TRUE TRUE ENSG00000164163.11 . BCM GRCh38.p13 chr4 145108105 145108108 + CTTC CTTC - Frame_Shift_Del DEL ENST00000296577.9 exon4 c.280_283del p.L94Tfs*14 exonic ENSG00000164163.11 . frameshift deletion ENSG00000164163.11:ENST00000296577.9:exon4:c.280_283del:p.L94Tfs*14 4q31.21 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCE1 254 0 184 10 0.0515463917525773 NA TRUE ENSG00000204569.10 . BCM GRCh38.p13 chr6 30602616 30602616 + G G A Missense_Mutation SNP ENST00000376511.7 exon19 c.C2033T p.P678L exonic ENSG00000204569.10 . nonsynonymous SNV ENSG00000204569.10:ENST00000376511.7:exon19:c.C2033T:p.P678L 6p21.33 C3L-00589 . . . . . . . . . 3.19 D T B B N D N T N 0.507 T T T 0.082 0.353 0.361 0.381 T T T T T . 3.084 23.600 0.938 D N -0.329 1.544 -0.144 1.926 0.990 0.672 0.577 0.702 0.636 . 4.480 3.610 2.955 1.172 0.614 1.000 0.983 0.994 814 . . . . PPP1R10 56 0 119 12 0.0916030534351145 TRUE NA ENSG00000135297.16 . BCM GRCh38.p13 chr6 73482103 73482103 + C C T Nonsense_Mutation SNP ENST00000370300.8 exon9 c.C1399T p.R467X exonic ENSG00000135297.16 . stopgain ENSG00000135297.16:ENST00000370300.8:exon9:c.C1399T:p.R467X 6q13 C3L-00589 6.589e-05 9.61e-05 0 0 0.0009 1.498e-05 0 0 rs200583827 5.6 . . . . D A . . . 0.956 . . . . . . . . . D D . . 7.960 40 0.997 D N 0.938 12.080 0.829 11.034 1.000 0.707 0.725 0.725 0.714 . 5.480 5.480 7.525 1.021 0.544 1.000 0.908 0.986 921 GidA_associated_domain_3 . . . MTO1 517 0 533 38 0.0665499124343257 TRUE NA ENSG00000168830.8 . BCM GRCh38.p13 chr6 87015725 87015725 + G G A Missense_Mutation SNP ENST00000305344.7 exon2 c.G391A p.A131T exonic ENSG00000168830.8 . nonsynonymous SNV ENSG00000168830.8:ENST00000305344.7:exon2:c.G391A:p.A131T 6q14.3 C3L-00589 8.336e-06 0 0 0 0 1.508e-05 0 0 rs764472292 4.20 T T P B U D L T N 0.372 T T T 0.288 0.331 0.865 1.292 T T T T D T 2.445 22.300 0.998 D D 0.277 3.665 0.317 3.819 0.061 0.487 0.574 0.574 0.564 . 4.260 4.260 7.120 0.913 0.485 1.000 0.998 0.976 809 GPCR,_rhodopsin-like,_7TM . . ID=COSV100541091;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) HTR1E 47 0 87 9 0.09375 TRUE NA ENSG00000135547.9 . BCM GRCh38.p13 chr6 125759432 125759432 + C C T Missense_Mutation SNP ENST00000368364.4 exon5 c.C644T p.T215I exonic ENSG00000135547.9 . nonsynonymous SNV ENSG00000135547.9:ENST00000368364.4:exon5:c.C644T:p.T215I 6q22.31 C3L-00589 . . . . . . . . . 0.20 T T B B N N L T N 0.055 T T T 0.051 0.234 0.417 0.428 T T T T T T 1.227 13.850 0.983 N N -0.708 0.800 -0.596 1.052 1.000 0.632 0.611 0.780 0.639 . 5.590 3.660 0.822 0.887 0.524 0.000 0.961 0.967 933 . . . . HEY2 121 0 287 25 0.0801282051282051 TRUE NA ENSG00000106128.19 . BCM GRCh38.p13 chr7 30975808 30975808 + G G A Missense_Mutation SNP ENST00000326139.7 exon10 c.G914A p.R305H exonic ENSG00000106128.19 . nonsynonymous SNV ENSG00000106128.19:ENST00000326139.7:exon10:c.G914A:p.R305H 7p14.3 C3L-00589 8.237e-06 0 8.64e-05 0 0 0 0 0 rs200472991 12.19 D D D D . D M T D 0.431 T T D 0.310 0.804 0.625 0.528 T T T T D D 3.739 25.600 0.999 D D 0.594 5.864 0.512 5.273 0.847 0.447 0.547 0.547 0.530 . 5.320 3.520 5.200 1.162 0.660 0.998 0.993 0.994 927 GPCR,_family_2-like . . ID=COSV58197595;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) GHRHR 395 1 661 60 0.0832177531206657 TRUE TRUE ENSG00000106236.4 . BCM GRCh38.p13 chr7 98627261 98627261 + G G A Missense_Mutation SNP ENST00000265634.4 exon4 c.G985A p.G329R exonic ENSG00000106236.4 . nonsynonymous SNV ENSG00000106236.4:ENST00000265634.4:exon4:c.G985A:p.G329R 7q22.1 C3L-00589 8.294e-06 9.675e-05 0 0 0 0 0 0 rs375252857 18.20 D D D D D D M T D 0.979 D D D 0.819 . 0.913 1.239 D T D D D D 4.514 32 0.999 D D 0.949 12.390 0.896 13.562 1.000 0.661 0.590 0.644 0.621 . 5.390 5.390 9.996 1.176 0.676 1.000 0.999 0.901 233 . . . ID=COSV55716710;OCCURENCE=2(large_intestine),1(biliary_tract),1(stomach) NPTX2 185 0 464 42 0.08300395256917 TRUE TRUE ENSG00000055609.18 . BCM GRCh38.p13 chr7 152162805 152162805 + T T C Missense_Mutation SNP ENST00000262189.11 exon43 c.A10772G p.Q3591R exonic ENSG00000055609.18 . nonsynonymous SNV ENSG00000055609.18:ENST00000262189.11:exon43:c.A10772G:p.Q3591R 7q36.1 C3L-00589 . . . . . . . . . 17.20 D T D D D D M D D 0.866 D D D 0.634 0.234 0.959 0.458 T T D D D D 3.699 25.400 0.996 D D 0.714 7.322 0.706 7.859 1.000 0.722 0.699 0.609 0.636 . 5.510 5.510 7.667 1.138 0.665 1.000 1.000 0.950 809 . . . . KMT2C 205 0 268 24 0.0821917808219178 TRUE TRUE ENSG00000183117.19 . BCM GRCh38.p13 chr8 2949317 2949317 + A A G Missense_Mutation SNP ENST00000635120.2 exon68 c.T10384C p.F3462L exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon68:c.T10384C:p.F3462L 8p23.2 C3L-00589 . . . . . . . . . 14.19 D D D D D D . T D 0.928 T T D 0.472 0.463 0.503 . T T D D D D 4.185 28.500 0.997 D D 0.510 5.117 0.579 5.968 1.000 0.487 0.574 0.574 0.564 . 5.600 5.600 9.024 1.300 0.743 1.000 1.000 0.995 915 . . . . CSMD1 131 0 110 10 0.0833333333333333 TRUE TRUE ENSG00000104237.11 . BCM GRCh38.p13 chr8 54626035 54626035 + A A G Missense_Mutation SNP ENST00000220676.2 exon4 c.A2153G p.D718G exonic ENSG00000104237.11 . nonsynonymous SNV ENSG00000104237.11:ENST00000220676.2:exon4:c.A2153G:p.D718G 8q12.1 C3L-00589 . . . . . . . . . 0.20 T T B B N N N T N 0.121 T T T 0.051 0.237 0.285 0.034 T T T T T T 0.872 10.140 0.885 N N -0.948 0.462 -0.935 0.574 0.021 0.497 0.547 0.547 0.542 . 5.930 0.766 2.378 1.312 0.691 0.476 0.002 0.117 797 . . . . RP1 325 0 288 32 0.1 TRUE NA ENSG00000164794.9 . BCM GRCh38.p13 chr8 109974100 109974100 + C C T Missense_Mutation SNP ENST00000524391.6 exon2 c.G289A p.V97M exonic ENSG00000164794.9 . nonsynonymous SNV ENSG00000164794.9:ENST00000524391.6:exon2:c.G289A:p.V97M 8q23.2 C3L-00589 . . . . . . . . . 2.20 T T B B N D N T N 0.112 T T T 0.180 0.323 0.831 1.820 T T T T T T 2.500 22.400 0.992 D N -0.114 2.130 0.034 2.480 1.000 0.652 0.563 0.641 0.530 . 4.950 4.950 1.441 1.026 0.599 0.786 0.996 0.984 702 Potassium_channel_tetramerisation-type_BTB_domain;BTB/POZ_domain . . . KCNV1 452 1 1074 138 0.113861386138614 TRUE TRUE ENSG00000155897.10 . BCM GRCh38.p13 chr8 130814079 130814079 + C C T Missense_Mutation SNP ENST00000286355.10 exon14 c.G2903A p.R968Q exonic ENSG00000155897.10 . nonsynonymous SNV ENSG00000155897.10:ENST00000286355.10:exon14:c.G2903A:p.R968Q 8q24.22 C3L-00589 9.068e-05 0 0 0 0.0002 0.0002 0 0 rs374456387 15.20 D D D P D D M T D 0.752 D D D 0.514 . 0.868 1.353 T D T D D T 3.874 26.200 0.999 D D 0.512 5.131 0.526 5.402 1.000 0.615 0.574 0.659 0.530 . 5.870 5.870 3.825 1.011 0.581 0.998 0.819 0.223 894 Adenylyl_cyclase_class-3/4/guanylyl_cyclase . . ID=COSV53912398;OCCURENCE=1(breast),2(large_intestine),1(skin) ADCY8 101 0 196 19 0.0883720930232558 TRUE TRUE ENSG00000169436.17 . BCM GRCh38.p13 chr8 138878263 138878263 + C C T Missense_Mutation SNP ENST00000303045.11 exon3 c.G145A p.V49M exonic ENSG00000169436.17 . nonsynonymous SNV ENSG00000169436.17:ENST00000303045.11:exon3:c.G145A:p.V49M 8q24.23 C3L-00589 . . . . . . . . . 16.20 D D D D U D M D N 0.605 D D D 0.598 0.642 0.612 0.084 T T D D D D 3.582 25.000 0.999 D D 0.657 6.560 0.656 7.004 1.000 0.615 0.574 0.659 0.563 . 5.190 5.190 5.977 1.026 0.599 1.000 1.000 0.999 972 von_Willebrand_factor,_type_A . . ID=COSV57351511;OCCURENCE=1(lung) COL22A1 67 0 208 20 0.087719298245614 TRUE TRUE ENSG00000171505.5 . BCM GRCh38.p13 chr9 122526561 122526561 + C C T Missense_Mutation SNP ENST00000304880.2 exon1 c.G733A p.V245I exonic ENSG00000171505.5 . nonsynonymous SNV ENSG00000171505.5:ENST00000304880.2:exon1:c.G733A:p.V245I 9q33.2 C3L-00589 0.0012 9.645e-05 0.0031 0.0003 0.0030 0.0011 0.0069 0.0005 rs151154516 3.20 D D B B U N M T N 0.056 T T T 0.061 . 0.128 0.031 T T T T T T 0.721 8.647 0.979 N N -0.672 0.860 -0.722 0.868 0.973 0.487 0.563 0.574 0.542 . 3.750 2.850 0.314 -0.391 -1.022 0.000 0.930 0.709 894 GPCR,_rhodopsin-like,_7TM . . ID=COSV59195879;OCCURENCE=1(breast),1(large_intestine),1(ovary),1(haematopoietic_and_lymphoid_tissue),1(upper_aerodigestive_tract),1(endometrium) OR1N1 57 0 120 11 0.083969465648855 TRUE TRUE ENSG00000198915.11 . BCM GRCh38.p13 chr10 43200738 43200738 + C C T Missense_Mutation SNP ENST00000395809.5 exon5 c.G610A p.A204T exonic ENSG00000198915.11 . nonsynonymous SNV ENSG00000198915.11:ENST00000395809.5:exon5:c.G610A:p.A204T 10q11.21 C3L-00589 5.81e-05 0 0.0002 0 0 3.028e-05 0 0.0002 rs767084570 0.20 T T B B N N N T N 0.068 T T T 0.029 0.304 0.196 0.705 T T T T T T 0.283 4.093 0.944 N N -0.653 0.893 -0.702 0.897 0.997 0.719 0.634 0.723 0.568 . 5.040 0.319 -0.466 -1.411 -1.556 0.000 0.031 0.123 851 . . . ID=COSV65666676;OCCURENCE=1(cervix),1(large_intestine) RASGEF1A 263 0 710 58 0.0755208333333333 TRUE TRUE ENSG00000266200.6 . BCM GRCh38.p13 chr10 116638428 116638428 + A A G Missense_Mutation SNP ENST00000591655.3 exon11 c.A1126G p.R376G exonic ENSG00000266200.6 . nonsynonymous SNV ENSG00000266200.6:ENST00000591655.3:exon11:c.A1126G:p.R376G 10q25.3 C3L-00589 . . . . . . . . . 1.15 . . B B N N . . . 0.225 T T T 0.222 0.552 0.161 . T T D T T T 1.458 15.470 0.929 N N -0.681 0.844 -0.657 0.963 0.014 0.075 0.063 0.079 0.057 . 5.480 1.690 2.146 0.230 0.756 0.037 0.389 0.587 620 PLAT/LH2_domain . . . PNLIPRP2 83 0 59 20 0.253164556962025 TRUE TRUE ENSG00000179241.13 . BCM GRCh38.p13 chr11 36081721 36081721 + C C T Missense_Mutation SNP ENST00000315571.6 exon3 c.C262T p.R88C exonic ENSG00000179241.13 . nonsynonymous SNV ENSG00000179241.13:ENST00000315571.6:exon3:c.C262T:p.R88C 11p13 C3L-00589 . . . . . . . . . 20.20 D D D D D D M D D 0.892 D D D 0.872 0.668 0.936 0.873 D D D D D D 4.381 31 0.999 D D 0.865 10.178 0.839 11.397 1.000 0.707 0.588 0.644 0.714 . 5.950 5.950 5.657 1.026 0.599 1.000 0.997 0.921 949 Low-density_lipoprotein_(LDL)_receptor_class_A,_conserved_site . . ID=COSV100214374;OCCURENCE=1(upper_aerodigestive_tract) LDLRAD3 291 0 452 33 0.0680412371134021 TRUE TRUE ENSG00000197891.12 . BCM GRCh38.p13 chr11 64593506 64593506 + G G A Missense_Mutation SNP ENST00000377574.6 exon3 c.G608A p.R203H exonic ENSG00000197891.12 . nonsynonymous SNV ENSG00000197891.12:ENST00000377574.6:exon3:c.G608A:p.R203H 11q13.1 C3L-00589 3.306e-05 0 0.0002 0 0 1.505e-05 0 6.056e-05 rs141975942 18.19 D D D D D D H T D 0.649 D D D 0.806 . 0.923 0.972 . D D D D D 3.839 26.000 1.000 D D 0.767 8.165 0.640 6.766 1.000 0.403 0.547 0.578 0.613 . 4.810 4.810 6.233 1.174 0.676 1.000 0.811 0.079 510 Major_facilitator_superfamily_domain . . . SLC22A12 458 1 929 94 0.0918866080156403 TRUE NA ENSG00000165323.15 . BCM GRCh38.p13 chr11 92799797 92799797 + G G A Missense_Mutation SNP ENST00000409404.6 exon9 c.G6784A p.D2262N exonic ENSG00000165323.15 . nonsynonymous SNV ENSG00000165323.15:ENST00000409404.6:exon9:c.G6784A:p.D2262N 11q14.3 C3L-00589 4.432e-05 0 0 0 0 7.974e-05 0 0 rs761353192 8.15 D . . . . D M T D 0.600 T T D 0.622 0.919 0.668 . T T T T D . 3.400 24.400 0.998 D D 0.803 8.834 0.755 8.913 1.000 0.615 0.574 0.659 0.564 . 5.940 5.940 8.052 1.176 0.676 1.000 0.466 0.184 906 Cadherin-like . . ID=COSV53076041;OCCURENCE=1(large_intestine),1(bone) FAT3 162 0 164 17 0.0939226519337017 TRUE TRUE ENSG00000170209.5 . BCM GRCh38.p13 chr11 113400215 113400215 + C C T Missense_Mutation SNP ENST00000303941.4 exon8 c.C2246T p.P749L exonic ENSG00000170209.5 . nonsynonymous SNV ENSG00000170209.5:ENST00000303941.4:exon8:c.C2246T:p.P749L 11q23.2 C3L-00589 5.17e-05 0 0 0 0 0 0 0.0001 rs775477797 1.20 T T B B N N L T N 0.169 T T D 0.144 0.316 0.312 0.062 T T T T T T 0.418 5.625 0.545 N N -1.555 0.066 -1.553 0.089 0.031 0.516 0.610 0.547 0.564 . 4.780 0.726 0.772 -4.010 -3.004 0.001 0.000 0.001 857 . . . . ANKK1 113 0 269 25 0.0850340136054422 TRUE NA ENSG00000166736.11 . BCM GRCh38.p13 chr11 113986533 113986533 + C C T Missense_Mutation SNP ENST00000504030.6 exon7 c.C721T p.R241W exonic ENSG00000166736.11 . nonsynonymous SNV ENSG00000166736.11:ENST00000504030.6:exon7:c.C721T:p.R241W 11q23.2 C3L-00589 4.144e-05 0.0002 0.0002 0 0 1.509e-05 0 0 rs369114231 15.18 D T . . D D M T D 0.886 D D D 0.798 . 0.891 0.458 T D D D D D 3.531 24.800 0.999 D D 0.531 5.285 0.398 4.345 0.004 0.615 0.590 0.659 0.542 . 5.000 3.080 0.500 -0.309 0.599 0.993 0.927 0.945 934 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . HTR3A 295 0 623 41 0.0617469879518072 TRUE NA ENSG00000149403.13 . BCM GRCh38.p13 chr11 120956785 120956785 + C C T Missense_Mutation SNP ENST00000527524.8 exon16 c.C1706T p.T569M exonic ENSG00000149403.13 . nonsynonymous SNV ENSG00000149403.13:ENST00000527524.8:exon16:c.C1706T:p.T569M 11q23.3 C3L-00589 4.38e-05 0 0 0 0 4.627e-05 0 0.0002 rs373630796 13.20 D D D D D D L T D 0.717 T T D 0.316 . 0.335 1.439 T D T T D D 3.750 25.600 0.999 D D 0.666 6.669 0.635 6.690 0.991 0.560 0.624 0.468 0.564 . 4.960 4.960 2.787 1.026 0.599 0.991 0.984 0.996 581 Ionotropic_glutamate_receptor . . ID=COSV70806102;OCCURENCE=1(stomach),1(prostate) GRIK4 49 0 105 23 0.1796875 TRUE TRUE ENSG00000236981.1 . BCM GRCh38.p13 chr11 124023607 124023607 + T T C Missense_Mutation SNP ENST00000375024.1 exon1 c.T595C p.F199L exonic ENSG00000236981.1 . nonsynonymous SNV ENSG00000236981.1:ENST00000375024.1:exon1:c.T595C:p.F199L 11q24.2 C3L-00589 . . . . . . . . . 2.20 T T D D N N L T N 0.057 T T T 0.169 0.324 0.293 1.072 T T T T T T 2.302 21.600 0.997 N N -0.065 2.287 -0.157 1.893 0.000 0.487 0.574 0.547 0.530 . 3.480 3.480 0.105 1.115 0.661 0.003 0.219 0.009 810 GPCR,_rhodopsin-like,_7TM . . . OR10G9 317 0 355 79 0.182027649769585 NA TRUE ENSG00000151490.15 . BCM GRCh38.p13 chr12 15499529 15499529 + C C G Missense_Mutation SNP ENST00000281171.9 exon4 c.C596G p.T199S exonic ENSG00000151490.15 . nonsynonymous SNV ENSG00000151490.15:ENST00000281171.9:exon4:c.C596G:p.T199S 12p12.3 C3L-00589 . . . . . . . . . 2.20 T T B B N N N T N 0.269 T T T 0.040 0.196 0.190 0.248 T T T T D T 1.679 16.890 0.961 D N -0.500 1.177 -0.279 1.608 0.421 0.554 0.574 0.618 0.542 . 4.990 3.150 3.026 1.008 0.599 0.995 1.000 1.000 803 . . . . PTPRO 340 0 292 26 0.0817610062893082 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-00589 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 327 1 240 65 0.213114754098361 TRUE TRUE ENSG00000184613.10 . BCM GRCh38.p13 chr12 44610880 44610880 + G G A Missense_Mutation SNP ENST00000429094.6 exon14 c.C1535T p.P512L exonic ENSG00000184613.10 . nonsynonymous SNV ENSG00000184613.10:ENST00000429094.6:exon14:c.C1535T:p.P512L 12q12 C3L-00589 0.0004 9.621e-05 0.0008 0 0 0.0006 0 0 rs144387740 12.20 T T B B D D L D D 0.467 D D D 0.667 . 0.361 0.160 T D T D T D 2.680 22.800 0.994 D D 0.263 3.592 0.374 4.181 0.782 0.693 0.588 0.659 0.564 . 4.970 4.970 7.540 1.176 0.674 1.000 0.995 0.964 702 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . NELL2 173 0 233 15 0.0604838709677419 TRUE NA ENSG00000131951.11 . BCM GRCh38.p13 chr14 60053111 60053111 + C C G Missense_Mutation SNP ENST00000445360.5 exon30 c.C4037G p.P1346R exonic ENSG00000131951.11 . nonsynonymous SNV ENSG00000131951.11:ENST00000445360.5:exon30:c.C4037G:p.P1346R 14q23.1 C3L-00589 . . . . . . . . . 7.12 D D . . . D . T D 0.644 . . D . . 0.393 . . T T T . T 3.710 25.400 0.998 D D . . . . 1.000 0.554 0.574 0.618 0.542 . 5.150 5.150 4.199 1.026 0.599 1.000 1.000 0.999 567 . . . . LRRC9 132 0 104 13 0.111111111111111 TRUE TRUE ENSG00000100731.16 . BCM GRCh38.p13 chr14 70969087 70969087 + G G T Missense_Mutation SNP ENST00000304743.7 exon5 c.G581T p.C194F exonic ENSG00000100731.16 . nonsynonymous SNV ENSG00000100731.16:ENST00000304743.7:exon5:c.G581T:p.C194F 14q24.2 C3L-00589 . . . . . . . . . 14.20 D D D D D D L T N 0.768 T T D 0.316 0.237 0.043 0.644 D T D D D D 3.458 24.600 0.952 D D 0.482 4.899 0.554 5.686 1.000 0.745 0.732 0.744 0.728 . 5.580 5.580 5.510 1.176 0.616 1.000 1.000 0.997 768 . . . . PCNX1 119 0 126 8 0.0597014925373134 TRUE TRUE ENSG00000198668.13 . BCM GRCh38.p13 chr14 90401345 90401345 + G G A Missense_Mutation SNP ENST00000356978.9 exon3 c.G121A p.G41S exonic ENSG00000198668.13 . nonsynonymous SNV ENSG00000198668.13:ENST00000356978.9:exon3:c.G121A:p.G41S 14q32.11 C3L-00589 . . . . . . . . . 15.17 . D D P U D . D D 0.832 D D D 0.808 0.531 0.991 3.061 D . D D D D 4.347 30 0.997 D D 0.744 7.786 0.730 8.363 1.000 0.646 0.696 0.702 0.723 . 4.620 4.620 10.003 1.161 0.676 1.000 1.000 0.999 804 EF-hand_domain . . . CALM1 221 0 200 29 0.126637554585153 TRUE TRUE ENSG00000133958.13 . BCM GRCh38.p13 chr14 93617263 93617263 + C C T Missense_Mutation SNP ENST00000393151.6 exon28 c.C4183T p.R1395W exonic ENSG00000133958.13 . nonsynonymous SNV ENSG00000133958.13:ENST00000393151.6:exon28:c.C4183T:p.R1395W 14q32.12 C3L-00589 8.254e-06 0 0 0 0 0 0 6.064e-05 rs769549721 14.17 D D . . D D M T D 0.925 T T D 0.403 0.680 0.469 1.093 D D D D D . 3.746 25.600 0.999 D D 0.423 4.489 0.371 4.160 0.002 0.554 0.590 0.602 0.564 . 5.520 3.640 0.649 0.074 0.549 0.976 0.995 0.996 794 . . . ID=COSV56378995;OCCURENCE=1(large_intestine),1(skin),2(lung) UNC79 154 0 206 50 0.1953125 TRUE TRUE ENSG00000185024.17 . BCM GRCh38.p13 chr14 105220106 105220106 + A A T Missense_Mutation SNP ENST00000547530.7 exon12 c.T1340A p.L447Q exonic ENSG00000185024.17 . nonsynonymous SNV ENSG00000185024.17:ENST00000547530.7:exon12:c.T1340A:p.L447Q 14q32.33 C3L-00589 . . . . . . . . . 15.19 D D D D D D M . D 0.676 T T D 0.310 0.329 0.611 . T T D D D D 4.024 27.100 0.996 D D 0.640 6.357 0.590 6.101 1.000 0.707 0.725 0.723 0.636 . 5.600 5.600 6.484 1.202 0.751 1.000 0.973 0.747 946 . . . . BRF1 200 0 458 32 0.0653061224489796 TRUE TRUE ENSG00000159433.12 . BCM GRCh38.p13 chr15 42689773 42689773 + T T A Missense_Mutation SNP ENST00000290607.12 exon23 c.T8195A p.V2732D exonic ENSG00000159433.12 . nonsynonymous SNV ENSG00000159433.12:ENST00000290607.12:exon23:c.T8195A:p.V2732D 15q15.2 C3L-00589 . . . . . . . . . 0.17 T . . . N N N T N 0.075 T T T 0.112 0.191 0.102 . T T T T T T -0.316 0.289 0.619 N N -1.123 0.287 -1.168 0.310 0.996 0.651 0.709 0.659 0.528 . 5.790 -0.697 -0.101 0.200 -0.115 0.000 0.050 0.175 91 . . . . STARD9 208 0 307 69 0.183510638297872 TRUE TRUE ENSG00000197599.12 . BCM GRCh38.p13 chr16 1443911 1443911 + G G A Missense_Mutation SNP ENST00000389176.3 exon2 c.C109T p.P37S exonic ENSG00000197599.12 . nonsynonymous SNV ENSG00000197599.12:ENST00000389176.3:exon2:c.C109T:p.P37S 16p13.3 C3L-00589 . . . . . . . . . 1.19 T T B B N D L . N 0.091 T T T 0.022 . 0.014 0.000 T T T T T T 0.465 6.138 0.792 N N -0.823 0.621 -0.824 0.725 0.504 0.581 0.551 0.578 0.605 . 3.920 2.950 0.194 0.162 0.665 0.005 0.003 0.030 783 . . . . CCDC154 469 0 1240 102 0.0760059612518629 TRUE NA ENSG00000167191.12 . BCM GRCh38.p13 chr16 19872176 19872176 + C C T Missense_Mutation SNP ENST00000300571.7 exon2 c.G670A p.G224S exonic ENSG00000167191.12 . nonsynonymous SNV ENSG00000167191.12:ENST00000300571.7:exon2:c.G670A:p.G224S 16p12.3 C3L-00589 7.418e-05 0 0.0002 0 0 8.993e-05 0 6.056e-05 rs148789431 14.20 D D D D D D M T D 0.889 T T T 0.575 . 0.439 1.245 T D T D D D 3.810 25.900 0.999 D D 0.837 9.542 0.819 10.699 1.000 0.707 0.588 0.725 0.714 . 5.440 5.440 7.823 1.026 0.599 1.000 0.998 0.968 702 GPCR_family_3,_C-terminal . . ID=COSV100315220;OCCURENCE=1(stomach) GPRC5B 464 0 959 83 0.0796545105566219 TRUE NA ENSG00000280789.2 . BCM GRCh38.p13 chr16 29819632 29819632 + G G A Missense_Mutation SNP ENST00000320330.8 exon3 c.G643A p.E215K exonic ENSG00000280789.2;ENSG00000281348.1 . nonsynonymous SNV ENSG00000280789.2:ENST00000320330.8:exon3:c.G643A:p.E215K 16p11.2 C3L-00589 . . . . . . . . . 14.19 D D D D D D L . N 0.747 T T T 0.240 0.211 0.531 . D D D D D D 4.602 32 0.999 D D 0.826 9.305 0.825 10.910 1.000 0.722 0.686 0.696 0.735 . 5.820 5.820 8.652 1.176 0.676 1.000 1.000 1.000 246 . . . . PAGR1 284 0 535 30 0.0530973451327434 TRUE TRUE ENSG00000177238.14 . BCM GRCh38.p13 chr16 31214907 31214907 + C C T Nonsense_Mutation SNP ENST00000322122.8 exon2 c.C169T p.Q57X exonic ENSG00000177238.14 . stopgain ENSG00000177238.14:ENST00000322122.8:exon2:c.C169T:p.Q57X 16p11.2 C3L-00589 . . . . . . . . . 5.6 . . . . D A . . . 0.738 . . . . . . . . . D D . . 5.750 34 0.997 D N 0.812 9.010 0.609 6.342 1.000 0.598 0.541 0.504 0.639 . 5.030 5.030 0.669 0.966 0.530 0.968 0.091 0.022 184 Zinc_finger,_RING-type . . . TRIM72 147 0 467 123 0.208474576271186 TRUE NA ENSG00000140807.7 . BCM GRCh38.p13 chr16 50633305 50633305 + G G A Missense_Mutation SNP ENST00000268459.6 exon10 c.G937A p.V313M exonic ENSG00000140807.7 . nonsynonymous SNV ENSG00000140807.7:ENST00000268459.6:exon10:c.G937A:p.V313M 16q12.1 C3L-00589 0.0007 0 0.0066 0 0 7.493e-05 0 0 rs142902078 2.20 T T B B N N N T N 0.029 T T D 0.035 . 0.162 0.278 T T T T T T 1.192 13.570 0.992 D N -0.508 1.160 -0.372 1.422 0.261 0.615 0.588 0.659 0.613 . 4.440 2.460 1.356 0.189 0.618 0.248 0.975 0.980 814 . . . ID=COSV51694577;OCCURENCE=1(stomach),1(urinary_tract) NKD1 224 0 523 29 0.052536231884058 TRUE TRUE ENSG00000157423.18 . BCM GRCh38.p13 chr16 70807755 70807755 + C C T Missense_Mutation SNP ENST00000393567.7 exon86 c.G15191A p.R5064H exonic ENSG00000157423.18 . nonsynonymous SNV ENSG00000157423.18:ENST00000393567.7:exon86:c.G15191A:p.R5064H 16q22.2 C3L-00589 0.0005 0 0.0003 0 0 0.0005 0.0022 0.0008 rs183874188 3.16 D . . . U N M T D 0.410 T T T 0.147 . 0.185 . T T T T T . 3.170 23.800 0.998 N N 0.455 4.701 0.383 4.242 1.000 0.447 0.563 0.563 0.613 . 6.160 5.140 2.079 1.026 0.599 0.989 0.016 0.016 467 . . . ID=COSV66637747;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(stomach),1(prostate) HYDIN 391 2 648 43 0.0622286541244573 TRUE TRUE ENSG00000129910.8 . BCM GRCh38.p13 chr16 89194941 89194941 + C C T Missense_Mutation SNP ENST00000289746.3 exon14 c.C2231T p.S744L exonic ENSG00000129910.8 . nonsynonymous SNV ENSG00000129910.8:ENST00000289746.3:exon14:c.C2231T:p.S744L 16q24.3 C3L-00589 . . . . . . . . rs145092759 19.20 D D D D D D H D D 0.725 D D D 0.734 0.855 0.933 0.234 T D D D D D 3.508 24.700 0.998 D D 0.603 5.957 0.405 4.393 1.000 0.646 0.547 0.645 0.568 . 4.930 4.930 4.911 0.900 0.599 1.000 0.003 0.002 819 Cadherin,_cytoplasmic_domain . . ID=COSV104613639;OCCURENCE=1(skin) CDH15 307 0 791 74 0.0855491329479769 TRUE NA ENSG00000213859.6 . BCM GRCh38.p13 chr17 7353427 7353427 + G G A Missense_Mutation SNP ENST00000576980.2 exon1 c.G485A p.R162H exonic ENSG00000213859.6 . nonsynonymous SNV ENSG00000213859.6:ENST00000576980.2:exon1:c.G485A:p.R162H 17p13.1 C3L-00589 . . . . . . . . rs865964999 3.16 . . B B U N N . . . T T D 0.059 0.329 0.754 0.807 T T T T T T 1.536 15.970 0.996 D D -0.341 1.515 -0.178 1.838 1.000 0.653 0.628 0.676 0.568 . 5.280 3.290 2.117 1.176 0.676 0.029 0.056 0.147 205 . . . ID=COSV50134200;OCCURENCE=1(large_intestine),1(prostate) KCTD11 140 0 251 22 0.0805860805860806 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675148 7675148 + G G T Missense_Mutation SNP ENST00000269305.8 exon5 c.C464A p.T155N exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C464A:p.T155N 17p13.1 C3L-00589 . . . . . . . . rs786202752 12.20 D D P P N N M D N 0.855 D D D 0.548 0.894 0.871 1.482 T D D D D D 1.270 14.170 0.779 N N -1.028 0.375 -1.191 0.290 0.623 0.722 0.698 0.698 0.735 . 5.470 -0.466 1.197 -0.758 -1.043 0.148 0.001 0.023 434 p53,_DNA-binding_domain . . ID=COSV52711720;OCCURENCE=3(breast),2(liver),9(oesophagus),3(large_intestine),7(central_nervous_system),1(pleura),2(ovary),1(haematopoietic_and_lymphoid_tissue),2(soft_tissue),3(lung),9(upper_aerodigestive_tract) TP53 278 0 471 123 0.207070707070707 TRUE TRUE ENSG00000276231.5 . BCM GRCh38.p13 chr17 8837820 8837820 + T T A Missense_Mutation SNP ENST00000619866.5 exon5 c.A241T p.M81L exonic ENSG00000276231.5 . nonsynonymous SNV ENSG00000276231.5:ENST00000619866.5:exon5:c.A241T:p.M81L 17p13.1 C3L-00589 . . . . . . . . . 4.11 . T B B . . . . . 0.320 . . T . . 0.522 . T T D D . T 2.563 22.600 0.936 D D . . . . 1.000 0.284 0.279 0.076 0.057 . 3.700 3.700 3.360 1.130 0.665 1.000 0.999 0.970 914 . . . . PIK3R6 170 0 242 30 0.110294117647059 TRUE TRUE ENSG00000007237.18 . BCM GRCh38.p13 chr17 10198306 10198306 + T T C Missense_Mutation SNP ENST00000432992.6 exon1 c.A85G p.I29V exonic ENSG00000007237.18 . nonsynonymous SNV ENSG00000007237.18:ENST00000432992.6:exon1:c.A85G:p.I29V 17p13.1 C3L-00589 . . . . . . . . . 5.18 . T B B N D L T . 0.077 T T D 0.036 0.587 0.528 1.216 D T T T T D 2.030 19.480 0.936 D N -0.628 0.938 -0.562 1.105 1.000 0.685 0.476 0.674 0.563 . 3.480 -0.740 1.212 0.071 0.648 0.854 0.970 0.955 866 SH3_domain . . . GAS7 466 0 965 100 0.0938967136150235 TRUE TRUE ENSG00000131242.18 . BCM GRCh38.p13 chr17 31528462 31528462 + G G T Missense_Mutation SNP ENST00000621161.5 exon12 c.G1413T p.E471D exonic ENSG00000131242.18 . nonsynonymous SNV ENSG00000131242.18:ENST00000621161.5:exon12:c.G1413T:p.E471D 17q11.2 C3L-00589 . . . . . . . . . 13.17 . D D D D D M . . 0.809 T T D 0.186 0.097 0.355 . T T D D D D 4.117 27.900 0.974 D D 0.816 9.106 0.805 10.270 1.000 0.707 0.725 0.725 0.530 . 5.810 5.810 6.546 1.172 0.672 1.000 0.999 0.985 918 . . . . RAB11FIP4 204 0 429 34 0.0734341252699784 TRUE TRUE ENSG00000167914.12 . BCM GRCh38.p13 chr17 39965863 39965863 + C C T Missense_Mutation SNP ENST00000301659.9 exon2 c.C176T p.T59M exonic ENSG00000167914.12 . nonsynonymous SNV ENSG00000167914.12:ENST00000301659.9:exon2:c.C176T:p.T59M 17q21.1 C3L-00589 3.775e-05 0 0 0 0 7.988e-05 0 0 rs754816059 4.20 D D D P N N L T D 0.500 T T T 0.205 0.805 0.400 0.394 T T T T T T 2.804 23.000 0.887 N N 0.391 4.287 0.318 3.825 0.736 0.500 0.590 0.624 0.542 . 5.510 5.510 1.104 1.026 0.599 0.834 0.953 0.814 318 . . . ID=COSV56977327;OCCURENCE=2(liver) GSDMA 247 0 1631 96 0.0555877243775333 TRUE TRUE ENSG00000131746.13 . BCM GRCh38.p13 chr17 40477604 40477604 + T T A Missense_Mutation SNP ENST00000254051.11 exon13 c.A2132T p.D711V exonic ENSG00000131746.13 . nonsynonymous SNV ENSG00000131746.13:ENST00000254051.11:exon13:c.A2132T:p.D711V 17q21.2 C3L-00589 . . . . . . . . . 6.20 D D P P N D M T D 0.196 T T T 0.095 0.564 0.477 0.584 T T T T D T 2.707 22.800 0.991 N N -0.100 2.175 -0.187 1.818 1.000 0.428 0.547 0.547 0.613 . 5.270 4.160 0.316 1.138 0.665 0.011 0.049 0.111 284 PTB/PI_domain . . . TNS4 159 0 299 27 0.0828220858895705 TRUE TRUE ENSG00000108821.14 . BCM GRCh38.p13 chr17 50195614 50195614 + G G A Missense_Mutation SNP ENST00000225964.10 exon17 c.C1108T p.R370C exonic ENSG00000108821.14 . nonsynonymous SNV ENSG00000108821.14:ENST00000225964.10:exon17:c.C1108T:p.R370C 17q21.33 C3L-00589 8.289e-06 0 0 0 0 0 0 6.058e-05 rs758897245 14.15 D D . . D D . D D 0.833 D D D 0.897 0.718 0.979 0.765 T . D D D . 4.612 32 0.998 D D 0.873 10.377 0.816 10.605 1.000 0.707 0.616 0.725 0.639 . 5.610 5.610 2.935 1.176 0.676 1.000 1.000 1.000 893 . . . ID=COSV56802381;OCCURENCE=3(large_intestine),1(stomach) COL1A1 307 0 700 60 0.0789473684210526 TRUE TRUE ENSG00000168646.13 . BCM GRCh38.p13 chr17 65557843 65557843 + - NA CC Frame_Shift_Ins INS ENST00000307078.10 exon2 c.777_778insGG p.S260Gfs*3 exonic ENSG00000168646.13 . frameshift insertion ENSG00000168646.13:ENST00000307078.10:exon2:c.777_778insGG:p.S260Gfs*3 17q24.1 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AXIN2 NA NA NA NA NA NA NA ENSG00000152217.19 . BCM GRCh38.p13 chr18 44951139 44951139 + C C T Missense_Mutation SNP ENST00000649279.2 exon4 c.C1799T p.T600M exonic ENSG00000152217.19 . nonsynonymous SNV ENSG00000152217.19:ENST00000649279.2:exon4:c.C1799T:p.T600M 18q12.3 C3L-00589 . . . . . . . . . 14.20 D D D D D D L T N 0.832 T T D 0.364 0.196 0.534 0.932 D T D D D D 3.552 24.900 0.998 D D 0.734 7.623 0.767 9.210 1.000 0.563 0.654 0.602 0.564 . 6.070 6.070 7.542 1.026 0.599 1.000 0.636 0.689 899 . . . ID=COSV56322690;OCCURENCE=1(stomach) SETBP1 293 0 326 35 0.0969529085872576 TRUE TRUE ENSG00000181588.16 . BCM GRCh38.p13 chr19 1556441 1556441 + C C T Missense_Mutation SNP ENST00000402693.4 exon2 c.G1078A p.D360N exonic ENSG00000181588.16 . nonsynonymous SNV ENSG00000181588.16:ENST00000402693.4:exon2:c.G1078A:p.D360N 19p13.3 C3L-00589 . . . . . . . . . 11.20 D D P P U D M T D 0.733 T T D 0.379 0.671 0.610 . D T T T D D 3.753 25.600 0.999 D D 0.516 5.161 0.521 5.352 1.000 0.707 0.634 0.723 0.714 . 4.730 4.730 7.363 0.947 0.452 1.000 0.998 0.863 976 . . . ID=COSV101183472;OCCURENCE=1(stomach) MEX3D 167 0 442 82 0.156488549618321 TRUE TRUE ENSG00000142303.14 . BCM GRCh38.p13 chr19 8600969 8600969 + G G A Missense_Mutation SNP ENST00000597188.6 exon6 c.C769T p.R257C exonic ENSG00000142303.14 . nonsynonymous SNV ENSG00000142303.14:ENST00000597188.6:exon6:c.C769T:p.R257C 19p13.2 C3L-00589 . . . . . . . . . 15.16 D D . . D D . D D 0.816 D D D 0.848 0.632 0.905 1.610 T . D D D D 4.379 31 0.999 D D 0.741 7.727 0.704 7.836 0.905 0.617 0.574 0.786 0.655 . 5.190 5.190 6.275 1.121 0.644 1.000 0.905 0.935 835 Peptidase_M12B,_ADAM/reprolysin . . ID=COSV54357422;OCCURENCE=1(large_intestine),1(endometrium) ADAMTS10 372 0 838 84 0.0911062906724512 TRUE TRUE ENSG00000170929.6 . BCM GRCh38.p13 chr19 9094002 9094002 + G G A Missense_Mutation SNP ENST00000641627.1 exon2 c.G758A p.G253E exonic ENSG00000170929.6 . nonsynonymous SNV ENSG00000170929.6:ENST00000641627.1:exon2:c.G758A:p.G253E 19p13.2 C3L-00589 . . . . . . . . . 8.20 D D D D D N M T D 0.370 T T T 0.216 0.572 0.697 0.202 T T T T D T 3.042 23.500 0.998 N N 0.417 4.453 0.200 3.183 0.000 0.487 0.574 0.574 0.564 . 3.710 3.710 0.106 0.839 0.663 0.000 0.864 0.830 970 GPCR,_rhodopsin-like,_7TM . . . OR1M1 257 1 379 22 0.0548628428927681 TRUE NA ENSG00000160111.13 . BCM GRCh38.p13 chr19 16993543 16993543 + G G A Missense_Mutation SNP ENST00000443236.6 exon12 c.C1139T p.T380M exonic ENSG00000160111.13 . nonsynonymous SNV ENSG00000160111.13:ENST00000443236.6:exon12:c.C1139T:p.T380M 19p13.11 C3L-00589 8.293e-05 0 8.655e-05 0.0006 0 6.004e-05 0 0 rs183563770 1.17 T T . . N N . T N 0.234 T T T 0.023 . 0.347 0.195 T T T T T T 0.983 11.410 0.759 D N -0.641 0.914 -0.618 1.019 0.001 0.651 0.547 0.651 0.613 . 3.040 0.744 1.588 0.035 -0.119 0.970 0.067 0.063 970 . . . ID=COSV52237911;OCCURENCE=2(large_intestine),1(stomach) CPAMD8 172 2 320 32 0.0909090909090909 NA TRUE ENSG00000213988.11 . BCM GRCh38.p13 chr19 20118726 20118726 + A A C Missense_Mutation SNP ENST00000418063.3 exon4 c.A1172C p.H391P exonic ENSG00000213988.11 . nonsynonymous SNV ENSG00000213988.11:ENST00000418063.3:exon4:c.A1172C:p.H391P 19p12 C3L-00589 . . . . . . . . . 9.19 D D D D . D M T D 0.329 T D T 0.192 0.715 0.405 0.003 T T T T D T 2.018 19.400 0.853 N N 0.096 2.871 -0.221 1.737 0.002 0.635 0.588 0.644 0.564 . 1.180 1.180 4.842 -0.357 -0.272 0.998 0.000 0.001 952 Zinc_finger_C2H2-type . . . ZNF90 229 4 201 21 0.0945945945945946 TRUE TRUE ENSG00000204519.11 . BCM GRCh38.p13 chr19 57687359 57687359 + C C G Missense_Mutation SNP ENST00000282296.10 exon3 c.C1084G p.P362A exonic ENSG00000204519.11 . nonsynonymous SNV ENSG00000204519.11:ENST00000282296.10:exon3:c.C1084G:p.P362A 19q13.43 C3L-00589 . . . . . . . . . 3.17 . D P B . N M T . 0.201 T T T 0.067 0.400 0.276 0.130 T T T T D T 1.122 12.980 0.928 N N -0.617 0.956 -0.844 0.696 0.047 0.672 0.654 0.702 0.636 . 2.580 0.266 0.718 0.031 0.599 0.000 0.009 0.007 976 Zinc_finger_C2H2-type . . . ZNF551 262 0 263 24 0.0836236933797909 TRUE TRUE ENSG00000101327.9 . BCM GRCh38.p13 chr20 1980454 1980454 + G G A Missense_Mutation SNP ENST00000217305.3 exon4 c.C634T p.R212W exonic ENSG00000101327.9 . nonsynonymous SNV ENSG00000101327.9:ENST00000217305.3:exon4:c.C634T:p.R212W 20p13 C3L-00589 2.471e-05 0 8.637e-05 0 0 2.997e-05 0 0 rs201486601 18.20 D D D D D A M D D 0.972 D D D 0.715 . 0.981 0.225 T D D D D D 3.405 24.400 0.999 D N 0.171 3.177 -0.015 2.309 0.000 0.554 0.563 0.602 0.542 . 5.000 -3.040 0.681 0.186 0.618 1.000 0.990 0.997 871 . . . ID=COSV54101259;OCCURENCE=1(breast),1(oesophagus),2(large_intestine),1(central_nervous_system),1(kidney),1(upper_aerodigestive_tract),1(endometrium) PDYN 303 0 468 41 0.0805500982318271 TRUE TRUE ENSG00000172264.17 . BCM GRCh38.p13 chr20 14684894 14684894 + G G - Frame_Shift_Del DEL ENST00000217246.8 exon5 c.353delG p.R118Lfs*3 exonic ENSG00000172264.17 . frameshift deletion ENSG00000172264.17:ENST00000217246.8:exon5:c.353delG:p.R118Lfs*3 20p12.1 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MACROD2 272 0 255 27 0.0957446808510638 NA TRUE ENSG00000101004.15 . BCM GRCh38.p13 chr20 25479019 25479019 + C C T Missense_Mutation SNP ENST00000278886.11 exon16 c.G2105A p.R702H exonic ENSG00000101004.15 . nonsynonymous SNV ENSG00000101004.15:ENST00000278886.11:exon16:c.G2105A:p.R702H 20p11.21 C3L-00589 . . . . . . . . rs917252420 0.20 T T B B N N N T N 0.060 T T T 0.026 0.107 0.085 0.130 T T T T T T -0.882 0.016 0.872 N N -1.877 0.016 -2.004 0.013 1.000 0.672 0.547 0.702 0.636 . 4.190 -8.380 -1.996 -0.754 -0.981 0.000 0.000 0.001 575 . . . . NINL 101 0 285 34 0.106583072100313 TRUE NA ENSG00000118702.9 . BCM GRCh38.p13 chr20 37256856 37256856 + T T C Missense_Mutation SNP ENST00000373614.6 exon2 c.A34G p.T12A exonic ENSG00000118702.9 . nonsynonymous SNV ENSG00000118702.9:ENST00000373614.6:exon2:c.A34G:p.T12A 20q11.23 C3L-00589 . . . . . . . . . 4.20 D T D P N N M T N 0.194 T T T 0.134 0.244 0.382 0.369 T T T T D T 2.519 22.500 0.992 N N -0.239 1.770 -0.309 1.546 0.000 0.554 0.590 0.602 0.530 . 4.970 -1.530 0.264 -0.564 -1.509 0.997 0.987 0.812 839 . . . . GHRH 166 0 311 34 0.0985507246376812 TRUE TRUE ENSG00000124134.9 . BCM GRCh38.p13 chr20 45098402 45098402 + G G A Missense_Mutation SNP ENST00000537075.3 exon3 c.C370T p.H124Y exonic ENSG00000124134.9 . nonsynonymous SNV ENSG00000124134.9:ENST00000537075.3:exon3:c.C370T:p.H124Y 20q13.12 C3L-00589 . . . . . . . . . 17.20 D D P P D D M T D 0.700 D D D 0.859 0.727 0.882 . D D D D D D 4.144 28.100 0.997 D D 0.729 7.544 0.706 7.859 1.000 0.437 0.616 0.504 0.604 . 4.720 4.720 9.668 1.176 0.674 1.000 1.000 0.996 748 Potassium_channel_tetramerisation-type_BTB_domain;BTB/POZ_domain . . . KCNS1 177 0 379 44 0.104018912529551 TRUE TRUE ENSG00000101096.20 . BCM GRCh38.p13 chr20 51523306 51523306 + G G A Missense_Mutation SNP ENST00000396009.7 exon2 c.C935T p.T312M exonic ENSG00000101096.20 . nonsynonymous SNV ENSG00000101096.20:ENST00000396009.7:exon2:c.C935T:p.T312M 20q13.2 C3L-00589 . . . . . . . . rs376937921 4.20 D D P B N N L T D 0.321 T T T 0.114 . 0.274 0.603 T T T T T D 2.080 19.860 0.992 N N -0.177 1.941 -0.251 1.668 1.000 0.707 0.725 0.578 0.636 . 5.570 3.580 2.662 1.176 0.618 0.115 0.876 0.966 969 . . . ID=COSV65359138;OCCURENCE=1(stomach),1(skin),1(lung) NFATC2 134 0 345 34 0.0897097625329815 TRUE TRUE ENSG00000142156.15 . BCM GRCh38.p13 chr21 46002034 46002034 + G G A Missense_Mutation SNP ENST00000361866.8 exon31 c.G2030A p.R677H exonic ENSG00000142156.15 . nonsynonymous SNV ENSG00000142156.15:ENST00000361866.8:exon31:c.G2030A:p.R677H 21q22.3 C3L-00589 2.761e-05 0.0001 0 0.0001 0 0 0 6.611e-05 rs373731596 4.20 T T B B U N L D N 0.213 T T D 0.313 . 0.716 0.841 T T T T T T 1.891 18.420 0.999 D D -0.221 1.819 -0.097 2.056 1.000 0.696 0.588 0.723 0.563 . 4.640 3.680 2.934 1.015 0.676 0.999 0.200 0.140 976 von_Willebrand_factor,_type_A . . ID=COSV62613730;OCCURENCE=2(large_intestine),1(pancreas) COL6A1 457 0 1046 110 0.0951557093425606 TRUE TRUE ENSG00000169184.6 . BCM GRCh38.p13 chr22 27797923 27797923 + G G A Missense_Mutation SNP ENST00000302326.5 exon1 c.C2621T p.P874L exonic ENSG00000169184.6 . nonsynonymous SNV ENSG00000169184.6:ENST00000302326.5:exon1:c.C2621T:p.P874L 22q12.1 C3L-00589 . . . . . . . . . 8.20 D D B B N D L T D 0.127 T T D 0.131 0.312 0.681 . D T T T D T 3.219 23.900 0.995 D N -0.341 1.516 -0.212 1.758 1.000 0.765 0.588 0.674 0.767 . 4.100 4.100 3.708 1.101 0.590 1.000 0.996 0.154 982 . . . . MN1 75 0 256 21 0.075812274368231 TRUE TRUE ENSG00000165288.11 . BCM GRCh38.p13 chrX 80688125 80688125 + C C A Missense_Mutation SNP ENST00000373275.5 exon34 c.G3808T p.D1270Y exonic ENSG00000165288.11 . nonsynonymous SNV ENSG00000165288.11:ENST00000373275.5:exon34:c.G3808T:p.D1270Y Xq21.1 C3L-00589 . . . . . . . . . 8.19 D D D P N D M T N 0.315 T T D 0.084 0.323 0.454 1.120 T T T T D T 5.002 33 0.990 D . . . . . 0.417 . . . . . 5.000 5.000 5.188 1.026 0.599 1.000 0.989 0.889 681 . . . . BRWD3 114 0 93 13 0.122641509433962 TRUE TRUE ENSG00000155966.14 . BCM GRCh38.p13 chrX 148662537 148662537 + C C G Missense_Mutation SNP ENST00000370460.7 exon3 c.C810G p.F270L exonic ENSG00000155966.14 . nonsynonymous SNV ENSG00000155966.14:ENST00000370460.7:exon3:c.C810G:p.F270L Xq28 C3L-00589 . . . . . . . . . 16.19 D D D D D D M T D 0.741 T D D 0.594 0.684 0.681 0.644 T D D D D D 3.114 23.700 0.998 D . . . . . 0.222 . . . . . 5.710 2.890 0.831 -0.016 0.599 1.000 0.998 0.999 663 . . . . AFF2 198 0 251 41 0.14041095890411 TRUE TRUE ENSG00000160211.19 . BCM GRCh38.p13 chrX 154532605 154532606 + CC CC - Frame_Shift_Del DEL ENST00000393562.10 exon10 c.1248_1249del p.E417Vfs*18 exonic ENSG00000160211.19 . frameshift deletion ENSG00000160211.19:ENST00000393562.10:exon10:c.1248_1249del:p.E417Vfs*18 Xq28 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . G6PD 388 0 581 126 0.178217821782178 TRUE TRUE ENSG00000123106.10 . BCM GRCh38.p13 chr12 28362516 28362516 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000123106.10 ENST00000545336.5:exon10:c.654+1G>A . . 12p11.22 C3L-00589 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.655 34 0.994 D . 1.094 17.247 0.939 15.552 0.889 0.294 0.333 0.063 0.057 0.969 5.510 5.510 5.927 1.131 0.595 1.000 0.995 0.997 843 . . . . CCDC91 123 0 104 9 0.079646017699115 TRUE NA ENSG00000077522.13 . BCM GRCh38.p13 chr1 236744762 236744762 + C C T Silent SNP ENST00000366578.6 exon12 c.C1392T p.I464I exonic ENSG00000077522.13 . synonymous SNV ENSG00000077522.13:ENST00000366578.6:exon12:c.C1392T:p.I464I 1q43 C3L-00589 8.281e-06 0 0 0 0 1.507e-05 0 0 rs764086805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63971447;OCCURENCE=1(breast),1(stomach),1(urinary_tract) ACTN2 257 0 706 47 0.0624169986719788 TRUE TRUE ENSG00000071054.16 . BCM GRCh38.p13 chr2 101844209 101844209 + G G A Silent SNP ENST00000347699.8 exon12 c.G1131A p.Q377Q exonic ENSG00000071054.16 . synonymous SNV ENSG00000071054.16:ENST00000347699.8:exon12:c.G1131A:p.Q377Q 2q11.2 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP4K4 254 0 322 64 0.16580310880829 TRUE TRUE ENSG00000136699.19 . BCM GRCh38.p13 chr2 130173594 130173594 + G G A Silent SNP ENST00000409031.5 exon4 c.C306T p.L102L exonic ENSG00000136699.19 . synonymous SNV ENSG00000136699.19:ENST00000409031.5:exon4:c.C306T:p.L102L 2q21.1 C3L-00589 0.0055 0.0009 0.0037 0.0001 0.0014 0.0075 0.0077 0.0057 rs41269839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60081228;OCCURENCE=1(lung) SMPD4 162 0 452 40 0.0813008130081301 NA TRUE ENSG00000124006.15 . BCM GRCh38.p13 chr2 219557494 219557494 + G G A Silent SNP ENST00000404537.6 exon12 c.C3915T p.D1305D exonic ENSG00000124006.15 . synonymous SNV ENSG00000124006.15:ENST00000404537.6:exon12:c.C3915T:p.D1305D 2q35 C3L-00589 . . . . . . . . rs926056344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OBSL1 129 0 307 34 0.0997067448680352 TRUE NA ENSG00000171551.12 . BCM GRCh38.p13 chr2 232484196 232484196 + G G A Silent SNP ENST00000304546.6 exon7 c.C1212T p.R404R exonic ENSG00000171551.12 . synonymous SNV ENSG00000171551.12:ENST00000304546.6:exon7:c.C1212T:p.R404R 2q37.1 C3L-00589 2.522e-05 0 0 0.0002 0 1.532e-05 0 0 rs764036925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58812069;OCCURENCE=1(endometrium) ECEL1 130 0 405 59 0.127155172413793 TRUE TRUE ENSG00000038295.8 . BCM GRCh38.p13 chr4 166091295 166091295 + T T G Silent SNP ENST00000061240.7 exon19 c.T2610G p.S870S exonic ENSG00000038295.8 . synonymous SNV ENSG00000038295.8:ENST00000061240.7:exon19:c.T2610G:p.S870S 4q32.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLL1 128 0 125 8 0.0601503759398496 TRUE TRUE ENSG00000164287.12 . BCM GRCh38.p13 chr5 55124923 55124923 + C C T Silent SNP ENST00000381375.6 exon9 c.G1095A p.P365P exonic ENSG00000164287.12 . synonymous SNV ENSG00000164287.12:ENST00000381375.6:exon9:c.G1095A:p.P365P 5q11.2 C3L-00589 7.414e-05 0 0 0.0003 0 5.994e-05 0 0.0001 rs375917242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57050982;OCCURENCE=1(large_intestine) CDC20B 369 0 605 68 0.101040118870728 TRUE TRUE ENSG00000237441.10 . BCM GRCh38.p13 chr6 33298533 33298533 + C C G Silent SNP ENST00000497454.6 exon2 c.G78C p.R26R exonic ENSG00000237441.10 . synonymous SNV ENSG00000237441.10:ENST00000497454.6:exon2:c.G78C:p.R26R 6p21.32 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGL2 62 0 99 9 0.0833333333333333 TRUE TRUE ENSG00000064218.5 . BCM GRCh38.p13 chr9 977265 977265 + C C T Silent SNP ENST00000190165.3 exon1 c.C264T p.P88P exonic ENSG00000064218.5 . synonymous SNV ENSG00000064218.5:ENST00000190165.3:exon1:c.C264T:p.P88P 9p24.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMRT3 106 0 228 41 0.152416356877323 TRUE TRUE ENSG00000070159.14 . BCM GRCh38.p13 chr9 109404553 109404553 + G G A Silent SNP ENST00000374541.4 exon19 c.C1848T p.P616P exonic ENSG00000070159.14 . synonymous SNV ENSG00000070159.14:ENST00000374541.4:exon19:c.C1848T:p.P616P 9q31.3 C3L-00589 2.495e-05 0 8.639e-05 0 0 3.011e-05 0 0 rs756050290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPN3 50 0 70 20 0.222222222222222 TRUE NA ENSG00000160323.18 . BCM GRCh38.p13 chr9 133440468 133440468 + G G T Silent SNP ENST00000371929.7 exon16 c.G1911T p.L637L exonic ENSG00000160323.18 . synonymous SNV ENSG00000160323.18:ENST00000371929.7:exon16:c.G1911T:p.L637L 9q34.2 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTS13 193 1 452 46 0.0923694779116466 TRUE TRUE ENSG00000130560.9 . BCM GRCh38.p13 chr9 135946333 135946333 + G G A Silent SNP ENST00000371756.4 exon5 c.C480T p.I160I exonic ENSG00000130560.9 . synonymous SNV ENSG00000130560.9:ENST00000371756.4:exon5:c.C480T:p.I160I 9q34.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBAC1 205 0 330 22 0.0625 TRUE NA ENSG00000172489.6 . BCM GRCh38.p13 chr11 56253165 56253165 + G G A Silent SNP ENST00000303059.3 exon1 c.G966A p.L322L exonic ENSG00000172489.6 . synonymous SNV ENSG00000172489.6:ENST00000303059.3:exon1:c.G966A:p.L322L 11q12.1 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5T3 49 0 56 6 0.0967741935483871 TRUE TRUE ENSG00000168060.16 . BCM GRCh38.p13 chr11 65053264 65053264 + G G A Silent SNP ENST00000358658.8 exon8 c.C1152T p.A384A exonic ENSG00000168060.16 . synonymous SNV ENSG00000168060.16:ENST00000358658.8:exon8:c.C1152T:p.A384A 11q13.1 C3L-00589 0.0003 0 0 0 0 0.0003 0 0.0005 rs368997186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAALADL1 157 0 346 36 0.0942408376963351 TRUE NA ENSG00000149294.16 . BCM GRCh38.p13 chr11 113235142 113235142 + C C T Silent SNP ENST00000316851.11 exon14 c.C1803T p.S601S exonic ENSG00000149294.16 . synonymous SNV ENSG00000149294.16:ENST00000316851.11:exon14:c.C1803T:p.S601S 11q23.2 C3L-00589 0.0003 0 0.0002 0 0 0.0001 0 0.0017 rs536431053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57516384;OCCURENCE=1(large_intestine) NCAM1 186 0 435 37 0.0783898305084746 TRUE TRUE ENSG00000175899.15 . BCM GRCh38.p13 chr12 9101645 9101645 + G G A Silent SNP ENST00000318602.12 exon12 c.C1296T p.Y432Y exonic ENSG00000175899.15 . synonymous SNV ENSG00000175899.15:ENST00000318602.12:exon12:c.C1296T:p.Y432Y 12p13.31 C3L-00589 0.0510 0.0078 0.0222 0.0001 0.0374 0.0628 0.0629 0.0811 rs2228222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . A2M 241 0 305 26 0.0785498489425982 TRUE NA ENSG00000060709.15 . BCM GRCh38.p13 chr12 130434821 130434821 + G G A Silent SNP ENST00000261655.8 exon11 c.C2115T p.D705D exonic ENSG00000060709.15 . synonymous SNV ENSG00000060709.15:ENST00000261655.8:exon11:c.C2115T:p.D705D 12q24.33 C3L-00589 1.653e-05 9.662e-05 0 0 0 1.505e-05 0 0 rs761677291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55467808;OCCURENCE=1(urinary_tract),1(lung),1(endometrium) RIMBP2 233 0 398 79 0.165618448637317 TRUE TRUE ENSG00000041515.16 . BCM GRCh38.p13 chr13 109140430 109140430 + G G A Silent SNP ENST00000356711.7 exon32 c.G4152A p.A1384A exonic ENSG00000041515.16 . synonymous SNV ENSG00000041515.16:ENST00000356711.7:exon32:c.G4152A:p.A1384A 13q33.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO16 199 0 535 52 0.0885860306643952 TRUE TRUE ENSG00000128881.17 . BCM GRCh38.p13 chr15 42777162 42777162 + G G A Silent SNP ENST00000267890.11 exon12 c.C1278T p.V426V exonic ENSG00000128881.17 . synonymous SNV ENSG00000128881.17:ENST00000267890.11:exon12:c.C1278T:p.V426V 15q15.2 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TTBK2 420 0 521 50 0.0875656742556918 TRUE NA ENSG00000162069.16 . BCM GRCh38.p13 chr16 3031079 3031079 + G G A Silent SNP ENST00000572449.6 exon3 c.C354T p.A118A exonic ENSG00000162069.16 . synonymous SNV ENSG00000162069.16:ENST00000572449.6:exon3:c.C354T:p.A118A 16p13.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BICDL2 235 0 728 57 0.0726114649681529 TRUE NA ENSG00000102935.11 . BCM GRCh38.p13 chr16 49637163 49637163 + C C T Silent SNP ENST00000561648.5 exon5 c.G1989A p.A663A exonic ENSG00000102935.11 . synonymous SNV ENSG00000102935.11:ENST00000561648.5:exon5:c.G1989A:p.A663A 16q12.1 C3L-00589 0.0021 0.0006 0.0013 0 0.0036 0.0030 0 0.0004 rs143468235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF423 172 0 353 52 0.128395061728395 TRUE NA ENSG00000179588.9 . BCM GRCh38.p13 chr16 88532708 88532708 + C C T Silent SNP ENST00000319555.8 exon8 c.C1041T p.S347S exonic ENSG00000179588.9 . synonymous SNV ENSG00000179588.9:ENST00000319555.8:exon8:c.C1041T:p.S347S 16q24.2 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFPM1 188 0 487 47 0.0880149812734082 TRUE TRUE ENSG00000125414.19 . BCM GRCh38.p13 chr17 10535348 10535348 + C C T Silent SNP ENST00000245503.10 exon18 c.G1992A p.L664L exonic ENSG00000125414.19 . synonymous SNV ENSG00000125414.19:ENST00000245503.10:exon18:c.G1992A:p.L664L 17p13.1 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH2 370 0 365 29 0.0736040609137056 TRUE TRUE ENSG00000132005.9 . BCM GRCh38.p13 chr19 13978042 13978042 + G G A Silent SNP ENST00000254325.9 exon8 c.C879T p.S293S exonic ENSG00000132005.9 . synonymous SNV ENSG00000132005.9:ENST00000254325.9:exon8:c.C879T:p.S293S 19p13.12 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RFX1 140 0 342 28 0.0756756756756757 TRUE NA ENSG00000177558.3 . BCM GRCh38.p13 chr19 35228312 35228312 + C C T Silent SNP ENST00000324675.3 exon1 c.G369A p.L123L exonic ENSG00000177558.3 . synonymous SNV ENSG00000177558.3:ENST00000324675.3:exon1:c.G369A:p.L123L 19q13.12 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM187B 324 0 623 73 0.104885057471264 TRUE NA ENSG00000134830.6 . BCM GRCh38.p13 chr19 47340808 47340808 + C C T Silent SNP ENST00000595464.3 exon2 c.C9T p.N3N exonic ENSG00000134830.6 . synonymous SNV ENSG00000134830.6:ENST00000595464.3:exon2:c.C9T:p.N3N 19q13.32 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57256903;OCCURENCE=1(oesophagus) C5AR2 260 1 597 40 0.0627943485086342 TRUE TRUE ENSG00000198026.8 . BCM GRCh38.p13 chr20 45969590 45969590 + G G A Silent SNP ENST00000322927.3 exon3 c.C303T p.G101G exonic ENSG00000198026.8 . synonymous SNV ENSG00000198026.8:ENST00000322927.3:exon3:c.C303T:p.G101G 20q13.12 C3L-00589 . . . . . . . . rs868406297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59817884;OCCURENCE=2(lung) ZNF335 74 0 172 11 0.0601092896174863 TRUE TRUE ENSG00000164556.7 . BCM GRCh38.p13 chr7 38686426 38686426 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000164556.7 . . . 7p14.1 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM183BP 132 0 271 20 0.0687285223367698 TRUE NA ENSG00000158528.12 . BCM GRCh38.p13 chr7 95269259 95269259 + A A T Intron SNP NA NA NA NA intronic ENSG00000158528.12 . . . 7q21.3 C3L-00589 . . . . . . . . . 4.7 . . . . . D . . . . . . T . . . . . . D D T . 3.012 23.400 0.984 D N -0.187 1.912 -0.028 2.264 1.000 0.615 0.574 0.659 0.564 . 4.420 4.420 2.322 1.312 0.691 1.000 1.000 0.951 865 . . . . PPP1R9A 270 0 317 19 0.056547619047619 TRUE TRUE ENSG00000222468.1 . BCM GRCh38.p13 chr8 31639417 31639417 + G G A IGR SNP NA NA NA NA intergenic ENSG00000222468.1;ENSG00000286648.1 dist=41213;dist=187821 . . 8p12 C3L-00589 . . . . . . . . rs777329120 4.14 D T . . . N . T N 0.226 T T D 0.171 0.434 0.389 . . . T T D T 2.881 23.200 0.996 D N 0.040 2.656 0.092 2.703 1.000 0.437 0.563 0.607 0.555 . 3.450 3.450 2.871 1.089 0.618 1.000 0.954 0.779 875 . . . . RNA5SP261 273 0 703 70 0.0905562742561449 TRUE NA ENSG00000215114.10 . BCM GRCh38.p13 chr8 58434860 58434860 + T T C Intron SNP NA NA NA NA intronic ENSG00000215114.10 . . . 8q12.1 C3L-00589 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . . . . T 2.274 21.400 0.981 D N . . . . 1.000 0.651 0.709 0.659 0.568 . 5.390 5.390 2.324 1.138 0.609 0.977 0.994 0.998 962 SEP_domain . . . UBXN2B 167 0 188 20 0.0961538461538462 TRUE TRUE ENSG00000279813.1 . BCM GRCh38.p13 chr9 136250896 136250896 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000279813.1 . . . 9q34.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CR392000.1 99 0 241 19 0.0730769230769231 TRUE NA ENSG00000256211.1 . BCM GRCh38.p13 chr12 16989067 16989067 + G G A 5'Flank SNP NA NA NA NA upstream ENSG00000256211.1 dist=59 . . 12p12.3 C3L-00589 0 0 0 0 0 0 0 0 rs771370283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC023512.1 128 0 138 43 0.237569060773481 TRUE NA ENSG00000239438.1 . BCM GRCh38.p13 chr14 78243355 78243355 + C C T IGR SNP NA NA NA NA intergenic ENSG00000239438.1;ENSG00000258723.1 dist=11736;dist=36217 . . 14q24.3 C3L-00589 0 0 0 0 0 0 0 0 rs779834039 4.7 . D . . . . . . . 0.655 T T . 0.341 . . . . T . . . D 3.474 24.600 0.999 D D 0.487 4.939 0.597 6.185 1.000 0.638 0.590 0.653 0.564 . 6.160 6.160 6.108 1.026 0.599 1.000 0.996 0.983 555 Laminin_G_domain . . . RPS26P48 84 0 283 21 0.0690789473684211 TRUE NA ENSG00000105426.17 . BCM GRCh38.p13 chr19 5286165 5286165 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000105426.17 ENST00000587303.5:c.-25C>T . . 19p13.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRS 190 0 410 33 0.0744920993227991 TRUE NA ENSG00000125650.4 . BCM GRCh38.p13 chr19 6375850 6375850 + T T A 5'Flank SNP NA NA NA NA upstream ENSG00000125650.4;ENSG00000125652.8 dist=1;dist=600 . . 19p13.3 C3L-00589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSPN 319 0 867 66 0.0707395498392283 TRUE NA ENSG00000143498.18 . BCM GRCh38.p13 chr1 222570634 222570645 + GGCTACTGCATT GGCTACTGCATT - In_Frame_Del DEL ENST00000352967.9 exon6 c.625_636del p.N209_A212del exonic ENSG00000143498.18 . nonframeshift deletion ENSG00000143498.18:ENST00000352967.9:exon6:c.625_636del:p.N209_A212del 1q41 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAF1A 103 0 218 36 0.141732283464567 TRUE TRUE ENSG00000143867.7 . BCM GRCh38.p13 chr2 19353211 19353211 + C C T Missense_Mutation SNP ENST00000272223.3 exon2 c.G595A p.D199N exonic ENSG00000143867.7 . nonsynonymous SNV ENSG00000143867.7:ENST00000272223.3:exon2:c.G595A:p.D199N 2p24.1 C3N-00302 . . . . . . . . . 11.20 T D D P D D N T D 0.593 T T T 0.294 0.441 0.614 . D D T T D D 3.474 24.600 0.999 D D 0.460 4.741 0.498 5.142 1.000 0.598 0.563 0.607 0.639 . 5.940 5.940 7.905 1.026 0.599 1.000 0.706 0.799 917 Zinc_finger_C2H2-type . . . OSR1 317 1 518 145 0.218702865761689 TRUE NA ENSG00000084674.15 . BCM GRCh38.p13 chr2 21012072 21012072 + C C T Missense_Mutation SNP ENST00000233242.5 exon26 c.G4796A p.R1599H exonic ENSG00000084674.15 . nonsynonymous SNV ENSG00000084674.15:ENST00000233242.5:exon26:c.G4796A:p.R1599H 2p24.1 C3N-00302 0.0001 0 0 0.0010 0 1.502e-05 0 0.0003 rs746414462 7.15 D D . . D D . T D 0.192 T T T 0.200 0.297 0.743 0.045 T . T T T . 2.397 22.100 0.999 D D 0.586 5.782 0.564 5.795 1.000 0.554 0.590 0.618 0.621 . 5.980 5.980 2.005 1.026 0.599 0.999 0.879 0.672 863 . . . ID=COSV51927055;OCCURENCE=1(large_intestine),1(stomach),1(upper_aerodigestive_tract),1(endometrium) APOB 69 0 168 45 0.211267605633803 TRUE TRUE ENSG00000136709.12 . BCM GRCh38.p13 chr2 127720275 127720275 + C C T Missense_Mutation SNP ENST00000322313.9 exon16 c.G1750A p.G584R exonic ENSG00000136709.12 . nonsynonymous SNV ENSG00000136709.12:ENST00000322313.9:exon16:c.G1750A:p.G584R 2q14.3 C3N-00302 4.513e-05 0 0 0.0006 0 0 0 0 rs774069217 7.20 D T B B N D L D N 0.768 T D D 0.346 0.480 0.396 0.418 T T T T T D 2.467 22.300 0.992 D N -0.124 2.101 0.007 2.383 0.981 0.707 0.725 0.725 0.714 . 5.290 4.410 2.631 1.026 0.549 0.983 0.973 0.997 934 . . . . WDR33 43 0 62 4 0.0606060606060606 TRUE NA ENSG00000168702.18 . BCM GRCh38.p13 chr2 140485508 140485508 + G G A Missense_Mutation SNP ENST00000389484.8 exon59 c.C9260T p.A3087V exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon59:c.C9260T:p.A3087V 2q22.1 C3N-00302 1.687e-05 0 0 0 0 3.075e-05 0 0 rs753066569 14.20 D T D P D D N D N 0.748 D D D 0.608 . 0.429 0.602 T T D D D D 4.228 28.900 0.999 D D 0.606 5.989 0.678 7.358 0.039 0.487 0.574 0.574 0.564 . 5.430 5.430 9.499 1.172 0.676 1.000 0.988 0.963 955 Domain_of_unknown_function_DUF5050 . . ID=COSV67232817;OCCURENCE=4(lung) LRP1B 65 0 136 31 0.18562874251497 TRUE TRUE ENSG00000169047.5 . BCM GRCh38.p13 chr2 226795968 226795968 + G G A Missense_Mutation SNP ENST00000305123.5 exon1 c.C2771T p.P924L exonic ENSG00000169047.5 . nonsynonymous SNV ENSG00000169047.5:ENST00000305123.5:exon1:c.C2771T:p.P924L 2q36.3 C3N-00302 8.258e-06 0 0 0.0001 0 0 0 0 rs747061950 2.20 D T B B N D N T N 0.057 T T T 0.057 0.353 0.686 0.272 T T T T T T 2.120 20.300 0.879 N N -0.679 0.848 -0.619 1.018 1.000 0.722 0.588 0.699 0.605 . 4.930 3.110 1.163 1.176 0.676 0.001 0.995 0.996 942 . . . . IRS1 528 1 735 203 0.216417910447761 TRUE NA ENSG00000081052.13 . BCM GRCh38.p13 chr2 227060156 227060156 + G G A Missense_Mutation SNP ENST00000396625.5 exon27 c.C2144T p.A715V exonic ENSG00000081052.13 . nonsynonymous SNV ENSG00000081052.13:ENST00000396625.5:exon27:c.C2144T:p.A715V 2q36.3 C3N-00302 0.0002 0 0.0002 0.0001 0 0.0002 0 0.0003 rs76636743 3.19 T T B B . N L D N 0.400 T D D 0.202 . 0.682 0.154 T T T T T T 1.522 15.880 0.986 N N -0.411 1.360 -0.388 1.394 1.000 0.554 0.588 0.618 0.564 . 5.750 5.750 3.413 1.176 0.676 0.219 0.002 0.005 806 . . . ID=COSV99052140;OCCURENCE=2(large_intestine),1(kidney) COL4A4 227 1 352 97 0.216035634743875 TRUE NA ENSG00000181789.14 . BCM GRCh38.p13 chr3 129255003 129255003 + A A G Missense_Mutation SNP ENST00000314797.10 exon7 c.A418G p.I140V exonic ENSG00000181789.14 . nonsynonymous SNV ENSG00000181789.14:ENST00000314797.10:exon7:c.A418G:p.I140V 3q21.3 C3N-00302 5.768e-05 0.0003 0 0 0 1.499e-05 0 0.0002 rs367768969 5.20 T T B P N D M T N 0.230 T T T 0.176 . 0.438 0.847 T T T T T D 2.797 23.000 0.989 D D 0.145 3.069 0.155 2.970 0.988 0.707 0.698 0.725 0.714 . 4.150 3.000 7.077 0.269 0.691 1.000 0.992 0.979 523 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . COPG1 128 0 339 68 0.167076167076167 TRUE NA ENSG00000174564.13 . BCM GRCh38.p13 chr3 136989476 136989476 + G G C Missense_Mutation SNP ENST00000329582.9 exon4 c.G442C p.D148H exonic ENSG00000174564.13 . nonsynonymous SNV ENSG00000174564.13:ENST00000329582.9:exon4:c.G442C:p.D148H 3q22.3 C3N-00302 . . . . . . . . . 4.20 T T B B N D L T D 0.168 T T T 0.040 0.654 0.358 0.318 T T T T D T 2.364 21.900 0.975 D N -0.212 1.844 -0.065 2.150 0.985 0.615 0.588 0.659 0.613 . 4.900 4.010 2.343 0.169 0.676 0.968 0.992 0.974 733 . . . . IL20RB 229 0 578 41 0.0662358642972536 TRUE TRUE ENSG00000205359.10 . BCM GRCh38.p13 chr5 102477840 102477840 + A A G Missense_Mutation SNP ENST00000506729.6 exon3 c.T638C p.V213A exonic ENSG00000205359.10 . nonsynonymous SNV ENSG00000205359.10:ENST00000506729.6:exon3:c.T638C:p.V213A 5q21.1 C3N-00302 . . . . . . . . rs572687157 0.19 T T B B . N L T N 0.120 T T T 0.017 0.387 0.048 0.143 T T T T T T -0.143 0.676 0.425 N N -1.272 0.180 -1.312 0.202 0.000 0.487 0.574 0.574 0.564 . 4.780 -1.250 -0.212 -0.680 -0.810 0.000 0.000 0.000 237 Major_facilitator_superfamily_domain . . . SLCO6A1 55 0 133 37 0.217647058823529 TRUE NA ENSG00000113209.9 . BCM GRCh38.p13 chr5 141137700 141137700 + G G A Missense_Mutation SNP ENST00000231134.8 exon1 c.G2266A p.G756R exonic ENSG00000113209.9 . nonsynonymous SNV ENSG00000113209.9:ENST00000231134.8:exon1:c.G2266A:p.G756R 5q31.3 C3N-00302 2.479e-05 0 0 0 0.0002 1.498e-05 0 6.056e-05 rs781995647 4.14 D D . . . N . T D 0.165 T T D 0.080 . 0.645 0.528 T . T T T . 2.155 20.500 0.923 N N -0.411 1.358 -0.608 1.034 0.000 0.650 0.547 0.607 0.621 . 4.380 0.922 0.478 1.082 0.561 0.000 0.029 0.085 554 . . . ID=COSV50647659;OCCURENCE=2(large_intestine),1(skin) PCDHB5 247 0 439 134 0.233856893542757 TRUE TRUE ENSG00000262209.3 . BCM GRCh38.p13 chr5 141372259 141372259 + G G A Missense_Mutation SNP ENST00000576222.2 exon1 c.G1865A p.R622H exonic ENSG00000262209.3 . nonsynonymous SNV ENSG00000262209.3:ENST00000576222.2:exon1:c.G1865A:p.R622H 5q31.3 C3N-00302 . . . . . . . . . 1.13 . T D P . N N T . 0.210 . . T . . 0.820 0.305 . T T T . T 1.285 14.280 0.901 N N . . . . 0.976 0.549 0.588 0.578 0.616 . 5.140 4.240 0.037 -0.210 -0.123 0.000 0.055 0.002 650 Cadherin-like . . . PCDHGB3 211 0 469 62 0.116760828625235 TRUE NA ENSG00000136193.17 . BCM GRCh38.p13 chr7 29936568 29936574 + GGGGTTC GGGGTTC - Frame_Shift_Del DEL ENST00000242059.10 exon6 c.887_893del p.G296Vfs*17 exonic ENSG00000136193.17 . frameshift deletion ENSG00000136193.17:ENST00000242059.10:exon6:c.887_893del:p.G296Vfs*17 7p14.3 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCRN1 88 0 71 19 0.211111111111111 TRUE TRUE ENSG00000164532.11 . BCM GRCh38.p13 chr7 35253583 35253583 + G G A Missense_Mutation SNP ENST00000408931.4 exon1 c.C38T p.S13F exonic ENSG00000164532.11 . nonsynonymous SNV ENSG00000164532.11:ENST00000408931.4:exon1:c.C38T:p.S13F 7p14.2 C3N-00302 . . . . . . . . . 16.20 D D D P D D L D N 0.465 D D D 0.543 0.286 0.971 1.509 D T D D D D 4.524 32 0.995 D D 0.582 5.746 0.628 6.586 1.000 0.598 0.563 0.378 0.639 . 5.070 5.070 9.565 1.176 0.676 1.000 0.999 0.993 798 . . . . TBX20 192 0 389 21 0.0512195121951219 TRUE NA ENSG00000279961.2 . BCM GRCh38.p13 chr11 56417860 56417860 + C C T Missense_Mutation SNP ENST00000623286.1 exon1 c.G373A p.A125T exonic ENSG00000279961.2 . nonsynonymous SNV ENSG00000279961.2:ENST00000623286.1:exon1:c.G373A:p.A125T 11q12.1 C3N-00302 8.242e-06 0 0 0 0 1.499e-05 0 0 rs771782696 8.16 . . D D U D M . . . T T D 0.215 0.632 . . T T T T D D 3.509 24.700 0.999 D N 0.859 10.054 0.775 9.422 0.982 0.487 0.574 0.574 0.564 . 5.780 5.780 4.980 0.104 -0.193 1.000 0.643 0.003 185 GPCR,_rhodopsin-like,_7TM . . ID=COSV56571910;OCCURENCE=2(breast),2(prostate) OR5R1 161 0 291 37 0.11280487804878 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-00302 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 236 0 424 123 0.224862888482633 TRUE TRUE ENSG00000139687.15 . BCM GRCh38.p13 chr13 48453046 48453046 + T T - Frame_Shift_Del DEL ENST00000267163.5 exon18 c.1749delT p.D584Ifs*27 exonic ENSG00000139687.15 . frameshift deletion ENSG00000139687.15:ENST00000267163.5:exon18:c.1749delT:p.D584Ifs*27 13q14.2 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RB1 141 0 292 170 0.367965367965368 TRUE TRUE ENSG00000156030.13 . BCM GRCh38.p13 chr14 73719432 73719432 + C C T Missense_Mutation SNP ENST00000286523.9 exon12 c.G3007A p.E1003K exonic ENSG00000156030.13 . nonsynonymous SNV ENSG00000156030.13:ENST00000286523.9:exon12:c.G3007A:p.E1003K 14q24.3 C3N-00302 . . . . . . . . . 4.20 D T P B N N N T N 0.268 T T T 0.170 0.255 0.321 0.791 T T T T D D 2.154 20.500 0.998 D N -0.077 2.248 0.025 2.448 1.000 0.707 0.702 0.619 0.714 . 5.780 5.780 1.503 1.026 0.599 0.896 0.621 0.499 447 . . . . MIDEAS 476 1 727 199 0.214902807775378 TRUE TRUE ENSG00000119681.12 . BCM GRCh38.p13 chr14 74552898 74552898 + G G A Missense_Mutation SNP ENST00000261978.9 exon5 c.C1186T p.R396C exonic ENSG00000119681.12 . nonsynonymous SNV ENSG00000119681.12:ENST00000261978.9:exon5:c.C1186T:p.R396C 14q24.3 C3N-00302 2.09e-05 0 0 0 0 3.727e-05 0 0 rs753186679 15.20 D D D D D D M T D 0.811 T T T 0.291 0.554 0.660 0.720 T D D D D D 4.569 32 0.999 D D 0.657 6.559 0.639 6.749 1.000 0.714 0.590 0.576 0.617 . 4.830 4.830 5.782 1.176 0.674 1.000 1.000 0.997 257 EGF-like_domain . . . LTBP2 328 0 537 106 0.164852255054432 TRUE NA ENSG00000277322.1 . BCM GRCh38.p13 chr15 20538638 20538638 + C C T Missense_Mutation SNP ENST00000619213.1 exon3 c.G340A p.E114K exonic ENSG00000277322.1 . nonsynonymous SNV ENSG00000277322.1:ENST00000619213.1:exon3:c.G340A:p.E114K 15q11.2 C3N-00302 . . . . . . . . . 2.13 . D . . . N . . . 0.123 T T T 0.054 . 0.113 . T T T T D T 1.944 18.830 0.950 N N -0.290 1.639 -0.571 1.090 0.000 0.487 0.574 0.574 0.564 . 0.109 0.109 -0.027 0.369 0.302 0.218 0.024 0.026 1000 . . . . GOLGA6L6 30 0 41 12 0.226415094339623 NA TRUE ENSG00000205456.11 . BCM GRCh38.p13 chr16 32253570 32253570 + C C A Missense_Mutation SNP ENST00000398664.4 exon1 c.C217A p.L73I exonic ENSG00000205456.11 . nonsynonymous SNV ENSG00000205456.11:ENST00000398664.4:exon1:c.C217A:p.L73I 16p11.2 C3N-00302 . . . . . . . . . 2.11 D D . . . N . T N 0.099 . . T . . 0.123 2.370 T . T T . . 0.918 10.630 0.881 N N . . . . 0.001 0.487 0.574 0.574 0.564 . 0.253 -0.507 0.173 0.215 0.191 0.017 0.017 0.020 721 . . . . TP53TG3D 208 0 190 83 0.304029304029304 NA TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7670691 7670691 + T T - Frame_Shift_Del DEL ENST00000269305.8 exon10 c.1018delA p.M340Cfs*5 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon10:c.1018delA:p.M340Cfs*5 17p13.1 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53461649;OCCURENCE=1(stomach) TP53 306 0 304 116 0.276190476190476 TRUE TRUE ENSG00000215421.9 . BCM GRCh38.p13 chr18 74631710 74631710 + C C - Frame_Shift_Del DEL ENST00000299687.9 exon1 c.691delC p.H231Ifs*29 exonic ENSG00000215421.9 . frameshift deletion ENSG00000215421.9:ENST00000299687.9:exon1:c.691delC:p.H231Ifs*29 18q22.3 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF407 166 1 212 70 0.24822695035461 TRUE TRUE ENSG00000101445.10 . BCM GRCh38.p13 chr20 38918592 38918592 + C C G Missense_Mutation SNP ENST00000299824.6 exon11 c.C1630G p.P544A exonic ENSG00000101445.10 . nonsynonymous SNV ENSG00000101445.10:ENST00000299824.6:exon11:c.C1630G:p.P544A 20q11.23 C3N-00302 . . . . . . . . . 19.20 D D D D D D M D D 0.553 D D D 0.493 0.485 0.773 1.146 T D D D D D 3.492 24.700 0.996 D D 0.734 7.624 0.714 8.016 1.000 0.707 0.698 0.659 0.714 . 5.350 5.350 5.013 1.026 0.599 1.000 0.998 0.995 888 . . . ID=COSV55379747;OCCURENCE=1(urinary_tract) PPP1R16B 23 0 44 5 0.102040816326531 TRUE TRUE ENSG00000179750.16 . BCM GRCh38.p13 chr22 38989551 38989551 + C C T Missense_Mutation SNP ENST00000333467.4 exon5 c.C664T p.R222C exonic ENSG00000179750.16 . nonsynonymous SNV ENSG00000179750.16:ENST00000333467.4:exon5:c.C664T:p.R222C 22q13.1 C3N-00302 1.7e-05 0 0 0 0 1.517e-05 0 6.267e-05 rs151250472 4.19 D T B B . N M D N 0.217 T D T 0.393 . 0.751 0.317 T T T T T T 0.702 8.476 0.896 N N -0.947 0.464 -1.228 0.260 0.992 0.722 0.699 0.644 0.613 . 1.920 -3.740 -0.122 0.687 0.486 0.001 0.003 0.009 356 APOBEC-like,_N-terminal;Cytidine_and_deoxycytidylate_deaminase_domain . . . APOBEC3B 147 0 193 14 0.0676328502415459 TRUE NA ENSG00000214717.12 . BCM GRCh38.p13 chrX 2488649 2488649 + T T C Missense_Mutation SNP ENST00000652001.1 exon2 c.A2071G p.S691G exonic ENSG00000214717.12 . nonsynonymous SNV ENSG00000214717.12:ENST00000652001.1:exon2:c.A2071G:p.S691G Xp22.33 C3N-00302 . . . . . . . . . 0.18 T T B B N N N . N 0.113 T T T 0.051 0.104 0.105 0.390 T T T T T T 0.193 3.049 0.513 N . . . . . 1.000 . . . . . 2.460 -4.070 0.423 -0.551 -0.375 0.998 0.002 0.002 1000 . . . . ZBED1 91 0 88 41 0.317829457364341 TRUE TRUE ENSG00000172901.20 . BCM GRCh38.p13 chr5 116015767 116015767 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000172901.20 ENST00000357872.9:exon18:c.2756+2T>A . . 5q23.1 C3N-00302 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.415 34 0.990 D . 0.925 11.708 0.745 8.688 0.062 0.075 0.110 0.060 0.057 0.956 5.600 5.600 4.245 1.138 0.665 1.000 0.998 0.660 941 . . . . LVRN 52 0 135 37 0.215116279069767 TRUE TRUE ENSG00000116882.14 . BCM GRCh38.p13 chr1 119393813 119393813 + A A T Silent SNP ENST00000622548.4 exon9 c.A1029T p.R343R exonic ENSG00000116882.14 . synonymous SNV ENSG00000116882.14:ENST00000622548.4:exon9:c.A1029T:p.R343R 1p12 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HAO2 198 0 326 95 0.225653206650831 TRUE TRUE ENSG00000058085.15 . BCM GRCh38.p13 chr1 183227582 183227582 + C C T Silent SNP ENST00000264144.5 exon10 c.C1353T p.N451N exonic ENSG00000058085.15 . synonymous SNV ENSG00000058085.15:ENST00000264144.5:exon10:c.C1353T:p.N451N 1q25.3 C3N-00302 0.0002 0.0004 0 0 0 0.0001 0 0.0006 rs141522697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LAMC2 346 0 570 114 0.166666666666667 TRUE NA ENSG00000182568.17 . BCM GRCh38.p13 chr3 18394726 18394726 + A A T Silent SNP ENST00000338745.11 exon7 c.T942A p.P314P exonic ENSG00000182568.17 . synonymous SNV ENSG00000182568.17:ENST00000338745.11:exon7:c.T942A:p.P314P 3p24.3 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SATB1 249 0 370 76 0.170403587443946 TRUE TRUE ENSG00000144744.17 . BCM GRCh38.p13 chr3 69077894 69077894 + C C A Silent SNP ENST00000361055.9 exon3 c.G87T p.G29G exonic ENSG00000144744.17 . synonymous SNV ENSG00000144744.17:ENST00000361055.9:exon3:c.G87T:p.G29G 3p14.1 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBA3 178 0 264 76 0.223529411764706 TRUE TRUE ENSG00000198944.6 . BCM GRCh38.p13 chr5 132814533 132814533 + G G A Silent SNP ENST00000378693.4 exon1 c.G912A p.A304A exonic ENSG00000198944.6 . synonymous SNV ENSG00000198944.6:ENST00000378693.4:exon1:c.G912A:p.A304A 5q31.1 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SOWAHA 35 0 247 15 0.0572519083969466 TRUE TRUE ENSG00000186340.15 . BCM GRCh38.p13 chr6 169220268 169220268 + G G A Silent SNP ENST00000366787.7 exon22 c.C3441T p.G1147G exonic ENSG00000186340.15 . synonymous SNV ENSG00000186340.15:ENST00000366787.7:exon22:c.C3441T:p.G1147G 6q27 C3N-00302 0.0080 0.0883 0.0029 0 0 0.0002 0.0077 6.056e-05 rs59953407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64677242;OCCURENCE=1(large_intestine) THBS2 136 0 231 16 0.0647773279352227 TRUE TRUE ENSG00000111046.4 . BCM GRCh38.p13 chr12 80707983 80707983 + A A G Silent SNP ENST00000228641.4 exon1 c.A264G p.K88K exonic ENSG00000111046.4 . synonymous SNV ENSG00000111046.4:ENST00000228641.4:exon1:c.A264G:p.K88K 12q21.31 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYF6 537 0 816 241 0.228003784295175 TRUE TRUE ENSG00000229474.6 . BCM GRCh38.p13 chr15 44669354 44669354 + G G A Silent SNP ENST00000434130.5 exon11 c.C990T p.C330C exonic ENSG00000229474.6 . synonymous SNV ENSG00000229474.6:ENST00000434130.5:exon11:c.C990T:p.C330C 15q21.1 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PATL2 224 0 182 67 0.269076305220884 TRUE TRUE ENSG00000103647.13 . BCM GRCh38.p13 chr15 68695175 68695175 + C C T Silent SNP ENST00000261861.10 exon3 c.C252T p.C84C exonic ENSG00000103647.13 . synonymous SNV ENSG00000103647.13:ENST00000261861.10:exon3:c.C252T:p.C84C 15q23 C3N-00302 1.65e-05 0 0 0 0 0 0 0.0001 rs775653466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99962893;OCCURENCE=1(stomach) CORO2B 285 0 270 124 0.314720812182741 TRUE NA ENSG00000182087.14 . BCM GRCh38.p13 chr19 1020817 1020817 + G G A Silent SNP ENST00000356663.8 exon1 c.C180T p.F60F exonic ENSG00000182087.14 . synonymous SNV ENSG00000182087.14:ENST00000356663.8:exon1:c.C180T:p.F60F 19p13.3 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM259 29 0 37 9 0.195652173913043 TRUE TRUE ENSG00000105270.15 . BCM GRCh38.p13 chr19 36027138 36027138 + G G A Silent SNP ENST00000360535.9 exon3 c.C300T p.G100G exonic ENSG00000105270.15 . synonymous SNV ENSG00000105270.15:ENST00000360535.9:exon3:c.C300T:p.G100G 19q13.12 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLIP3 46 0 160 9 0.0532544378698225 TRUE TRUE ENSG00000236065.2 . BCM GRCh38.p13 chr1 33012572 33012572 + C C G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000236065.2 . . . 1p35.1 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL020995.1 111 0 414 38 0.084070796460177 TRUE NA ENSG00000136238.18 . BCM GRCh38.p13 chr7 6398712 6398712 + G G A Intron SNP NA NA NA NA intronic ENSG00000136238.18 . . . 7p22.1 C3N-00302 9.43e-05 0.0009 0 0 0 1.571e-05 0 6.308e-05 rs148122613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61821656;OCCURENCE=1(endometrium) RAC1 148 1 266 54 0.16875 TRUE TRUE ENSG00000148204.12 . BCM GRCh38.p13 chr9 123373942 123373942 + G G A Intron SNP NA NA NA NA intronic ENSG00000148204.12 . . . 9q33.3 C3N-00302 . . . . . . . . rs943584708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRB2 159 0 277 60 0.178041543026706 TRUE NA ENSG00000186452.11 . BCM GRCh38.p13 chr12 50885553 50885553 + C C T Intron SNP NA NA NA NA intronic ENSG00000186452.11 . . . 12q13.12 C3N-00302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMPRSS12 50 0 137 10 0.0680272108843537 TRUE TRUE ENSG00000116731.22 . BCM GRCh38.p13 chr1 13778596 13778610 + GGAAGAGGAGGAGGA GGAAGAGGAGGAGGA - In_Frame_Del DEL ENST00000235372.11 exon8 c.801_815del p.E272_E276del exonic ENSG00000116731.22 . nonframeshift deletion ENSG00000116731.22:ENST00000235372.11:exon8:c.801_815del:p.E272_E276del 1p36.21 C3L-03743 8.263e-05 0 0 0.0003 0 7.522e-05 0 0.0001 rs770109313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM2 278 0 389 71 0.154347826086957 TRUE NA ENSG00000142798.20 . BCM GRCh38.p13 chr1 21844276 21844276 + G G T Missense_Mutation SNP ENST00000374695.8 exon65 c.C8488A p.R2830S exonic ENSG00000142798.20 . nonsynonymous SNV ENSG00000142798.20:ENST00000374695.8:exon65:c.C8488A:p.R2830S 1p36.12 C3L-03743 . . . . . . . . . 4.20 T T D D N N L T N 0.591 T T T 0.182 0.554 0.539 0.691 T T T T D T 3.238 24.000 0.998 D N 0.286 3.709 0.272 3.560 0.014 0.672 0.588 0.702 0.711 . 4.820 3.800 2.144 0.194 -0.154 1.000 0.563 0.009 846 Immunoglobulin_I-set;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain . . . HSPG2 100 0 184 19 0.0935960591133005 TRUE TRUE ENSG00000168710.18 . BCM GRCh38.p13 chr1 110012927 110012927 + G G A Missense_Mutation SNP ENST00000369799.10 exon5 c.G508A p.A170T exonic ENSG00000168710.18 . nonsynonymous SNV ENSG00000168710.18:ENST00000369799.10:exon5:c.G508A:p.A170T 1p13.3 C3L-03743 . . . . . . . . . 19.20 D D D D D D H D D 0.896 D D D 0.699 0.911 0.927 2.333 T D D D D D 4.186 28.500 0.999 D D 1.219 25.549 1.138 32.224 1.000 0.722 0.699 0.725 0.714 . 6.170 6.170 10.003 1.175 0.676 1.000 1.000 0.998 173 . . . . AHCYL1 121 0 231 41 0.150735294117647 TRUE TRUE ENSG00000160688.19 . BCM GRCh38.p13 chr1 154988849 154988849 + G G C Missense_Mutation SNP ENST00000292180.8 exon2 c.G1117C p.G373R exonic ENSG00000160688.19 . nonsynonymous SNV ENSG00000160688.19:ENST00000292180.8:exon2:c.G1117C:p.G373R 1q21.3 C3L-03743 . . . . . . . . . 13.19 D D D D D D M . N 0.568 T T T 0.228 0.434 0.641 0.273 T T D D D D 3.940 26.600 0.998 D D 0.564 5.572 0.613 6.387 1.000 0.707 0.702 0.702 0.714 . 5.650 5.650 4.603 1.176 0.676 1.000 0.980 0.988 374 . . . . FLAD1 238 0 464 37 0.0738522954091816 TRUE TRUE ENSG00000136636.13 . BCM GRCh38.p13 chr1 215620450 215620450 + - NA G Frame_Shift_Ins NA ENST00000259154.9 exon18 c.2281dupG p.G763Rfs*23 exonic ENSG00000136636.13 . frameshift insertion ENSG00000136636.13:ENST00000259154.9:exon18:c.2281dupG:p.G763Rfs*23 1q41 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCTD3 NA NA NA NA NA NA NA ENSG00000198104.3 . BCM GRCh38.p13 chr1 248388136 248388136 + - NA T Frame_Shift_Ins NA ENST00000641644.1 exon3 c.529dupT p.C179Lfs*2 exonic ENSG00000198104.3 . frameshift insertion ENSG00000198104.3:ENST00000641644.1:exon3:c.529dupT:p.C179Lfs*2 1q44 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR2T6 NA NA NA NA NA NA NA ENSG00000173567.15 . BCM GRCh38.p13 chr2 26311924 26311924 + C C A Missense_Mutation SNP ENST00000311519.5 exon11 c.G1804T p.A602S exonic ENSG00000173567.15 . nonsynonymous SNV ENSG00000173567.15:ENST00000311519.5:exon11:c.G1804T:p.A602S 2p23.3 C3L-03743 . . . . . . . . . 0.18 T T B B . N . T N 0.030 T T T 0.018 0.499 0.030 0.076 T T T T T T -0.216 0.471 0.647 N N -1.660 0.043 -1.497 0.109 0.977 0.554 0.588 0.602 0.542 . 6.110 -2.510 -0.105 -0.843 -0.791 0.456 0.019 0.344 445 . . . . ADGRF3 315 1 537 100 0.156985871271586 TRUE TRUE ENSG00000182389.19 . BCM GRCh38.p13 chr2 151870580 151870580 + G G A Missense_Mutation SNP ENST00000637559.1 exon7 c.C548T p.P183L exonic ENSG00000182389.19;ENSG00000283228.1 . nonsynonymous SNV ENSG00000283228.1:ENST00000637559.1:exon7:c.C548T:p.P183L,ENSG00000182389.19:ENST00000539935.6:exon8:c.C650T:p.P217L 2q23.3 C3L-03743 . . . . . . . . . 20.20 D D D D D D M D D 0.909 D D D 0.816 0.753 0.974 1.629 D D D D D D 4.505 32 0.999 D D 1.043 15.344 1.006 19.200 1.000 0.615 0.660 0.659 0.616 . 5.910 5.910 9.962 1.176 0.676 1.000 0.428 0.961 801 . . . . CACNB4 124 1 228 48 0.173913043478261 TRUE TRUE ENSG00000138356.14 . BCM GRCh38.p13 chr2 200612655 200612655 + C C T Missense_Mutation SNP ENST00000374700.7 exon14 c.C1310T p.A437V exonic ENSG00000138356.14 . nonsynonymous SNV ENSG00000138356.14:ENST00000374700.7:exon14:c.C1310T:p.A437V 2q33.1 C3L-03743 1.649e-05 0 0 0 0 1.499e-05 0 6.06e-05 rs368293055 13.20 T D D D D D M T D 0.652 T T D 0.366 . 0.474 0.505 T D T T D D 2.985 23.400 0.999 D D 0.801 8.803 0.759 9.008 1.000 0.638 0.547 0.653 0.613 . 5.410 5.410 3.575 1.026 0.599 0.994 0.926 0.929 676 CO_dehydrogenase_flavoprotein,_C-terminal . . ID=COSV65981353;OCCURENCE=1(oesophagus),1(large_intestine),1(lung),1(endometrium) AOX1 109 0 219 19 0.0798319327731092 TRUE TRUE ENSG00000072195.15 . BCM GRCh38.p13 chr2 219492746 219492746 + G G A Missense_Mutation SNP ENST00000312358.12 exon41 c.G9764A p.R3255H exonic ENSG00000072195.15;ENSG00000286143.1 . nonsynonymous SNV ENSG00000072195.15:ENST00000312358.12:exon41:c.G9764A:p.R3255H 2q35 C3L-03743 0.0010 0.0010 0.0011 0.0002 0 0.0014 0 0 rs55821615 6.20 D D B B N N N T D 0.102 T T D 0.088 . 0.252 0.489 T T T T T D 3.106 23.600 0.999 D N -0.317 1.572 -0.140 1.937 1.000 0.497 0.590 0.299 0.542 . 4.770 2.950 4.475 1.176 0.618 1.000 0.998 0.995 107 . . . ID=COSV100403406;OCCURENCE=1(biliary_tract) SPEG 188 1 435 39 0.0822784810126582 TRUE NA ENSG00000115468.12 . BCM GRCh38.p13 chr2 232681669 232681669 + C C T Missense_Mutation SNP ENST00000264059.8 exon4 c.C670T p.R224W exonic ENSG00000115468.12 . nonsynonymous SNV ENSG00000115468.12:ENST00000264059.8:exon4:c.C670T:p.R224W 2q37.1 C3L-03743 . . . . . . . . rs748253697 12.20 D D D P D D M T D 0.367 T T D 0.226 0.225 0.198 0.454 T T T T D D 3.372 24.300 0.999 D D 0.122 2.974 0.088 2.686 0.107 0.706 0.563 0.710 0.530 . 5.650 3.210 3.060 -0.104 -0.315 1.000 0.012 0.862 755 . . . . EFHD1 162 0 312 59 0.159029649595687 TRUE NA ENSG00000130294.16 . BCM GRCh38.p13 chr2 240788193 240788193 + T T C Missense_Mutation SNP ENST00000649096.1 exon4 c.A221G p.Y74C exonic ENSG00000130294.16 . nonsynonymous SNV ENSG00000130294.16:ENST00000649096.1:exon4:c.A221G:p.Y74C 2q37.3 C3L-03743 . . . . . . . . . 19.20 D D D D U D M D D 0.970 D D D 0.916 0.741 0.948 2.533 D D D D D D 4.131 28.000 0.998 D D 0.889 10.763 0.767 9.224 1.000 0.672 0.547 0.702 0.613 . 4.790 4.790 6.073 1.138 0.665 1.000 0.999 0.987 . Kinesin_motor_domain . . . KIF1A 308 0 580 93 0.138187221396731 TRUE TRUE ENSG00000055955.17 . BCM GRCh38.p13 chr3 52814272 52814272 + C C T Missense_Mutation SNP ENST00000266041.9 exon22 c.G2563A p.E855K exonic ENSG00000055955.17 . nonsynonymous SNV ENSG00000055955.17:ENST00000266041.9:exon22:c.G2563A:p.E855K 3p21.1 C3L-03743 . . . . . . . . . 0.20 T T B B N N N T N 0.187 T T T 0.075 0.571 0.292 0.308 T T T T T T 0.135 2.421 0.931 N N -1.033 0.370 -1.116 0.359 1.000 0.615 0.588 0.659 0.568 . 5.910 -7.750 -1.248 -0.251 0.599 0.000 0.002 0.984 57 Inter-alpha-trypsin_inhibitor_heavy_chain,_C-terminal . . . ITIH4 200 0 302 43 0.12463768115942 TRUE TRUE ENSG00000169760.17 . BCM GRCh38.p13 chr3 174279022 174279022 + G G T Nonsense_Mutation SNP ENST00000457714.5 exon6 c.G1021T p.E341X exonic ENSG00000169760.17 . stopgain ENSG00000169760.17:ENST00000457714.5:exon6:c.G1021T:p.E341X 3q26.31 C3L-03743 . . . . . . . . . 5.6 . . . . D A . . . 0.947 . . . . . . . . . D D . . 7.542 38 0.998 D N 1.249 29.140 1.120 29.515 1.000 0.693 0.574 0.659 0.564 . 5.760 5.760 10.003 1.176 0.618 1.000 1.000 1.000 968 Carboxylesterase,_type_B . . ID=COSV100848839;OCCURENCE=1(endometrium) NLGN1 40 0 86 10 0.104166666666667 TRUE TRUE ENSG00000137449.16 . BCM GRCh38.p13 chr4 15004070 15004070 + C C T Missense_Mutation SNP ENST00000538197.6 exon1 c.C1397T p.S466L exonic ENSG00000137449.16 . nonsynonymous SNV ENSG00000137449.16:ENST00000538197.6:exon1:c.C1397T:p.S466L 4p15.32 C3L-03743 2.004e-05 0 0 0 0 3.654e-05 0 0 rs781349176 7.19 D D D P U D L T N 0.457 T T D 0.142 0.159 0.316 0.601 T T T T D . 3.216 23.900 0.996 D N 0.201 3.309 0.107 2.764 1.000 0.564 0.219 0.504 0.492 . 1.960 1.960 1.183 0.767 0.211 0.683 0.992 0.859 579 . . . . CPEB2 229 0 444 90 0.168539325842697 TRUE NA ENSG00000204963.6 . BCM GRCh38.p13 chr5 140835816 140835816 + C C T Missense_Mutation SNP ENST00000525929.2 exon1 c.C1433T p.S478L exonic ENSG00000204963.6 . nonsynonymous SNV ENSG00000204963.6:ENST00000525929.2:exon1:c.C1433T:p.S478L 5q31.3 C3L-03743 . . . . . . . . . 7.19 D D P P U D M T D 0.515 T T T 0.113 0.459 0.707 . . T T T D D 2.658 22.700 0.981 N N -0.440 1.298 -0.606 1.037 0.009 0.554 0.588 0.555 0.613 . 4.000 2.070 0.151 0.840 0.445 0.000 0.042 0.044 31 Cadherin-like . . . PCDHA7 649 0 1199 111 0.0847328244274809 NA TRUE ENSG00000145882.11 . BCM GRCh38.p13 chr5 149368024 149368024 + G G T Missense_Mutation SNP ENST00000274569.9 exon6 c.G855T p.E285D exonic ENSG00000145882.11 . nonsynonymous SNV ENSG00000145882.11:ENST00000274569.9:exon6:c.G855T:p.E285D 5q32 C3L-03743 . . . . . . . . . 3.20 T T B B D N L T N 0.225 T T T 0.035 0.328 0.289 0.601 T T T T D T 2.161 20.600 0.967 D N -0.121 2.110 -0.010 2.325 1.000 0.744 0.630 0.269 0.692 . 5.530 3.720 2.591 1.176 0.676 0.998 0.728 0.452 451 Prenylcysteine_lyase . . . PCYOX1L 24 0 36 4 0.1 TRUE TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152201831 152201831 + C C T Missense_Mutation SNP ENST00000367255.10 exon127 c.G23138A p.R7713H exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon127:c.G23138A:p.R7713H 6q25.2 C3L-03743 4.944e-05 9.61e-05 8.666e-05 0 0 0 0 0.0002 rs750911961 12.20 T D D D D D M T D 0.387 T T D 0.345 0.383 0.783 0.321 T T T T D D 3.212 23.900 0.999 D D 0.789 8.572 0.780 9.567 1.000 0.651 0.709 0.602 0.636 . 6.080 6.080 6.160 1.026 0.549 1.000 0.863 0.898 899 . . . ID=COSV104542309;OCCURENCE=1(skin) SYNE1 275 0 372 56 0.130841121495327 TRUE NA ENSG00000177409.12 . BCM GRCh38.p13 chr7 93131401 93131401 + C C T Missense_Mutation SNP ENST00000318238.9 exon5 c.G4571A p.R1524H exonic ENSG00000177409.12 . nonsynonymous SNV ENSG00000177409.12:ENST00000318238.9:exon5:c.G4571A:p.R1524H 7q21.2 C3L-03743 8.267e-05 0 0 0 0 7.509e-05 0 0.0003 rs138088725 3.20 D T P B N N M T D 0.319 T T T 0.031 . 0.350 0.500 T T T T T T 1.675 16.860 0.987 N N -0.772 0.697 -0.856 0.680 0.001 0.706 0.710 0.574 0.655 . 5.010 2.150 1.590 0.018 0.454 0.011 0.013 0.250 810 . . . ID=COSV59082294;OCCURENCE=1(breast),1(endometrium) SAMD9L 84 0 144 14 0.0886075949367089 TRUE TRUE ENSG00000055609.18 . BCM GRCh38.p13 chr7 152162220 152162220 + G G A Missense_Mutation SNP ENST00000262189.11 exon43 c.C11357T p.S3786L exonic ENSG00000055609.18 . nonsynonymous SNV ENSG00000055609.18:ENST00000262189.11:exon43:c.C11357T:p.S3786L 7q36.1 C3L-03743 . . . . . . . . . 8.20 D T B B U N M D N 0.306 T T D 0.219 0.165 0.452 0.089 T T T T D D 2.946 23.300 0.963 D D -0.018 2.447 0.100 2.734 1.000 0.707 0.725 0.609 0.636 . 5.510 5.510 7.220 1.176 0.676 1.000 0.970 0.990 804 . . . . KMT2C 72 0 132 20 0.131578947368421 TRUE NA ENSG00000185053.14 . BCM GRCh38.p13 chr8 14108199 14108199 + G G A Missense_Mutation SNP ENST00000382080.6 exon6 c.C584T p.T195M exonic ENSG00000185053.14 . nonsynonymous SNV ENSG00000185053.14:ENST00000382080.6:exon6:c.C584T:p.T195M 8p22 C3L-03743 8.247e-06 0 0 0 0 1.5e-05 0 0 rs372855106 17.18 D D D D D D . D D 0.980 D D D 0.860 . 0.901 0.059 T . D D D D 3.901 26.400 0.998 D D 0.500 5.033 0.404 4.388 0.011 0.487 0.574 0.574 0.564 . 5.600 4.710 7.890 1.176 0.676 1.000 0.650 0.677 957 . . . ID=COSV66007234;OCCURENCE=1(skin) SGCZ 152 0 283 20 0.066006600660066 TRUE NA ENSG00000169122.11 . BCM GRCh38.p13 chr8 58146930 58146930 + G G A Missense_Mutation SNP ENST00000361488.7 exon5 c.G700A p.A234T exonic ENSG00000169122.11 . nonsynonymous SNV ENSG00000169122.11:ENST00000361488.7:exon5:c.G700A:p.A234T 8q12.1 C3L-03743 8.24e-06 0 0 0 0 1.499e-05 0 0 rs755553412 0.20 T T B B N N L T N 0.027 T T T 0.014 0.210 0.061 0.646 T T T T T T 0.248 3.684 0.845 N N -1.101 0.305 -1.098 0.378 1.000 0.653 0.659 0.659 0.564 . 4.380 1.390 0.700 0.066 -0.217 0.601 0.010 0.880 940 . . . ID=COSV64064194;OCCURENCE=1(large_intestine),1(stomach) FAM110B 155 0 302 18 0.05625 TRUE TRUE ENSG00000178860.8 . BCM GRCh38.p13 chr8 71842746 71842746 + G G A Missense_Mutation SNP ENST00000325509.4 exon2 c.C536T p.T179I exonic ENSG00000178860.8 . nonsynonymous SNV ENSG00000178860.8:ENST00000325509.4:exon2:c.C536T:p.T179I 8q13.3 C3L-03743 . . . . . . . . . 18.20 D D D D D D L D D 0.727 D D D 0.799 0.461 0.863 1.277 D T D D D D 5.059 33 0.996 D D 0.762 8.083 0.744 8.665 1.000 0.658 0.522 0.619 0.555 . 4.880 4.880 9.757 1.176 0.676 1.000 0.994 0.997 494 . . . ID=COSV57697609;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) MSC 318 0 495 92 0.156729131175468 TRUE TRUE ENSG00000160957.14 . BCM GRCh38.p13 chr8 144514941 144514941 + C C A Missense_Mutation SNP ENST00000617875.6 exon9 c.G1615T p.D539Y exonic ENSG00000160957.14 . nonsynonymous SNV ENSG00000160957.14:ENST00000617875.6:exon9:c.G1615T:p.D539Y 8q24.3 C3L-03743 . . . . . . . . . 8.11 . D D D . . . . . 0.873 . . T . . 0.687 . T T D D . D 3.108 23.600 0.905 D D . . . . 1.000 0.284 0.272 0.299 0.196 . 5.510 4.640 3.093 1.026 0.599 0.993 0.603 0.113 900 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . RECQL4 182 0 347 67 0.161835748792271 TRUE TRUE ENSG00000181001.2 . BCM GRCh38.p13 chr11 5788253 5788253 + C C A Missense_Mutation SNP ENST00000641645.1 exon2 c.G564T p.K188N exonic ENSG00000181001.2 . nonsynonymous SNV ENSG00000181001.2:ENST00000641645.1:exon2:c.G564T:p.K188N 11p15.4 C3L-03743 . . . . . . . . . 9.20 D D D D D D M T D 0.125 T T T 0.151 0.475 0.456 0.244 T T T T D T 1.245 13.980 0.998 N N 0.111 2.928 -0.087 2.084 0.000 0.487 0.574 0.574 0.564 . 4.590 0.580 -3.145 -3.837 -0.211 0.000 0.000 0.047 729 GPCR,_rhodopsin-like,_7TM . . ID=COSV100398654;OCCURENCE=1(endometrium) OR52N1 316 1 547 92 0.143974960876369 TRUE TRUE ENSG00000176547.10 . BCM GRCh38.p13 chr11 48325062 48325062 + G G A Missense_Mutation SNP ENST00000319856.5 exon1 c.G41A p.G14E exonic ENSG00000176547.10 . nonsynonymous SNV ENSG00000176547.10:ENST00000319856.5:exon1:c.G41A:p.G14E 11p11.2 C3L-03743 . . . . . . . . . 11.16 . . D D D D M . . . T T T 0.337 0.723 0.092 . T T D D D D 2.891 23.200 0.998 D D 0.959 12.685 0.896 13.574 0.583 0.487 0.574 0.574 0.613 . 5.880 5.880 3.017 1.028 0.542 1.000 0.967 0.048 120 . . . ID=COSV60584197;OCCURENCE=1(lung) OR4C3 195 0 305 45 0.128571428571429 NA TRUE ENSG00000172500.13 . BCM GRCh38.p13 chr11 65887723 65887723 + G G T Nonsense_Mutation SNP ENST00000338369.6 exon3 c.C288A p.Y96X exonic ENSG00000172500.13 . stopgain ENSG00000172500.13:ENST00000338369.6:exon3:c.C288A:p.Y96X 11q13.1 C3L-03743 . . . . . . . . . 5.6 . . . . D A . . . 0.491 . . . . . . . . . D D . . 6.643 36 0.994 D N 0.375 4.194 0.196 3.166 1.000 0.628 0.686 0.672 0.639 . 4.490 2.630 2.188 -0.123 -0.671 1.000 0.975 0.822 239 . . . . FIBP 245 1 518 37 0.0666666666666667 TRUE TRUE ENSG00000172508.10 . BCM GRCh38.p13 chr11 67420753 67420753 + G G A Missense_Mutation SNP ENST00000307823.7 exon7 c.G889A p.E297K exonic ENSG00000172508.10 . nonsynonymous SNV ENSG00000172508.10:ENST00000307823.7:exon7:c.G889A:p.E297K 11q13.2 C3L-03743 . . . . . . . . . 10.19 D D D B . D L T N 0.263 T T D 0.087 0.338 0.466 0.417 D T T T D D 4.224 28.900 0.998 D D 0.131 3.012 0.134 2.876 1.000 0.564 0.219 0.504 0.622 . 4.020 4.020 4.397 0.962 0.502 0.999 0.760 0.851 654 . . . . CARNS1 36 0 46 8 0.148148148148148 TRUE TRUE ENSG00000110237.5 . BCM GRCh38.p13 chr11 73363236 73363236 + C C T Missense_Mutation SNP ENST00000263674.4 exon15 c.C5027T p.T1676M exonic ENSG00000110237.5 . nonsynonymous SNV ENSG00000110237.5:ENST00000263674.4:exon15:c.C5027T:p.T1676M 11q13.4 C3L-03743 . . . . . . . . rs989455757 2.20 D T B B N N L T N 0.317 T T T 0.041 0.201 0.378 0.403 T T T T T T 1.704 17.060 0.977 D N -0.363 1.464 -0.238 1.697 1.000 0.707 0.654 0.645 0.714 . 5.180 3.300 1.716 0.126 0.599 0.853 0.875 0.934 465 . . . ID=COSV55234239;OCCURENCE=1(pancreas) ARHGEF17 85 0 186 21 0.101449275362319 TRUE TRUE ENSG00000033327.13 . BCM GRCh38.p13 chr11 78223480 78223480 + C C T Missense_Mutation SNP ENST00000361507.5 exon6 c.G1499A p.R500Q exonic ENSG00000033327.13 . nonsynonymous SNV ENSG00000033327.13:ENST00000361507.5:exon6:c.G1499A:p.R500Q 11q14.1 C3L-03743 8.635e-06 0 0 0 0 1.533e-05 0 0 rs370982595 2.20 T T B B U D L T N 0.234 T T T 0.055 . 0.392 0.059 T T T T T T 2.706 22.800 0.997 D N -0.323 1.559 -0.128 1.969 1.000 0.707 0.648 0.805 0.714 . 4.780 3.880 5.772 1.026 0.594 1.000 0.995 0.987 630 . . . ID=COSV60867614;OCCURENCE=1(urinary_tract) GAB2 49 0 78 21 0.212121212121212 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-03743 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 252 0 405 123 0.232954545454545 TRUE TRUE ENSG00000173208.4 . BCM GRCh38.p13 chr12 39604893 39604893 + T T C Missense_Mutation SNP ENST00000308666.4 exon4 c.A1274G p.N425S exonic ENSG00000173208.4 . nonsynonymous SNV ENSG00000173208.4:ENST00000308666.4:exon4:c.A1274G:p.N425S 12q12 C3L-03743 . . . . . . . . . 10.20 T T B B D D L D N 0.522 D D D 0.346 0.503 0.946 0.497 T T T T D D 2.361 21.900 0.946 D D 0.048 2.686 0.238 3.374 1.000 0.732 0.744 0.574 0.621 . 5.430 5.430 7.338 1.138 0.609 1.000 1.000 0.991 794 . . . . ABCD2 87 0 141 52 0.269430051813472 TRUE TRUE ENSG00000133640.20 . BCM GRCh38.p13 chr12 85056991 85056991 + C C A Missense_Mutation SNP ENST00000393217.7 exon8 c.C2198A p.T733N exonic ENSG00000133640.20 . nonsynonymous SNV ENSG00000133640.20:ENST00000393217.7:exon8:c.C2198A:p.T733N 12q21.31 C3L-03743 . . . . . . . . . 2.20 D D P B N N L T N 0.238 T T T 0.103 0.358 0.495 0.043 T T T T T T 1.224 13.820 0.957 N N -0.245 1.755 -0.333 1.497 0.001 0.554 0.574 0.618 0.530 . 5.660 4.770 1.195 0.128 0.549 0.003 0.099 0.006 922 . . . . LRRIQ1 57 0 84 24 0.222222222222222 TRUE TRUE ENSG00000198838.13 . BCM GRCh38.p13 chr15 33838056 33838056 + G G A Missense_Mutation SNP ENST00000634891.1 exon89 c.G12076A p.E4026K exonic ENSG00000198838.13 . nonsynonymous SNV ENSG00000198838.13:ENST00000634891.1:exon89:c.G12076A:p.E4026K 15q14 C3L-03743 3.312e-05 0 8.64e-05 0.0001 0 2.997e-05 0 0 rs573502706 13.19 D . P B D D N D N 0.684 D D D 0.678 0.577 0.892 0.232 D T D D T D 3.140 23.700 0.998 D D 0.284 3.697 0.368 4.140 1.000 0.554 0.574 0.602 0.568 . 5.110 5.110 4.816 1.166 0.665 1.000 0.579 0.771 830 . . . ID=COSV66778841;OCCURENCE=1(breast),2(large_intestine),1(skin),2(endometrium) RYR3 227 1 385 51 0.11697247706422 TRUE TRUE ENSG00000140332.17 . BCM GRCh38.p13 chr15 70096167 70096167 + - NA A Frame_Shift_Ins NA ENST00000558939.5 exon2 c.118dupT p.Y40Lfs*27 exonic ENSG00000140332.17 . frameshift insertion ENSG00000140332.17:ENST00000558939.5:exon2:c.118dupT:p.Y40Lfs*27 15q23 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLE3 NA NA NA NA NA NA NA ENSG00000140522.12 . BCM GRCh38.p13 chr15 89215223 89215223 + C C T Missense_Mutation SNP ENST00000268125.10 exon6 c.G362A p.R121Q exonic ENSG00000140522.12 . nonsynonymous SNV ENSG00000140522.12:ENST00000268125.10:exon6:c.G362A:p.R121Q 15q26.1 C3L-03743 2.474e-05 9.628e-05 0 0 0 3.002e-05 0 0 rs139108078 17.19 D D D P D D M D D 0.989 D D D 0.923 . 0.911 0.835 T D D D D D 4.167 28.300 0.999 D . 0.870 10.307 0.782 9.601 1.000 0.487 0.574 0.547 0.530 . 4.650 4.650 7.281 1.026 0.599 1.000 1.000 0.998 934 . . . . RLBP1 168 0 291 47 0.13905325443787 TRUE NA ENSG00000167984.18 . BCM GRCh38.p13 chr16 3564462 3564462 + C C T Missense_Mutation SNP ENST00000359128.10 exon5 c.G475A p.V159I exonic ENSG00000167984.18 . nonsynonymous SNV ENSG00000167984.18:ENST00000359128.10:exon5:c.G475A:p.V159I 16p13.3 C3L-03743 8.62e-06 0 0 0 0 1.577e-05 0 0 rs750986719 3.17 T T . . D N . T N 0.114 T T T 0.217 0.732 0.484 . T T T T D T 2.064 19.740 0.996 D N -0.003 2.501 -0.026 2.271 0.048 0.257 0.272 0.074 0.079 . 4.930 3.990 1.997 0.077 0.599 0.928 0.694 0.991 600 NACHT_nucleoside_triphosphatase . . . NLRC3 265 0 592 52 0.0807453416149068 TRUE NA ENSG00000102996.5 . BCM GRCh38.p13 chr16 58037595 58037595 + G G A Missense_Mutation SNP ENST00000219271.4 exon2 c.G286A p.G96S exonic ENSG00000102996.5 . nonsynonymous SNV ENSG00000102996.5:ENST00000219271.4:exon2:c.G286A:p.G96S 16q21 C3L-03743 . . . . . . . . rs910557137 19.20 D D D D D D H D D 0.941 D D D 0.902 0.888 0.951 1.217 T D D D D D 3.735 25.500 0.999 D D 0.773 8.267 0.580 5.981 1.000 0.696 0.590 0.723 0.655 . 3.770 3.770 9.953 1.176 0.676 1.000 0.190 0.205 602 Peptidoglycan_binding-like . . ID=COSV104586469;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) MMP15 206 0 422 32 0.0704845814977974 TRUE NA ENSG00000140836.17 . BCM GRCh38.p13 chr16 72787667 72787667 + C C T Missense_Mutation SNP ENST00000268489.10 exon10 c.G10609A p.A3537T exonic ENSG00000140836.17 . nonsynonymous SNV ENSG00000140836.17:ENST00000268489.10:exon10:c.G10609A:p.A3537T 16q22.2 C3L-03743 . . . . . . . . . 3.20 T T B B N D N D N 0.136 T T D 0.206 0.199 0.117 0.090 T T T T T T 2.000 19.250 0.979 N N -0.545 1.090 -0.364 1.438 1.000 0.564 0.522 0.504 0.273 . 4.220 1.760 1.295 1.025 0.593 1.000 1.000 1.000 191 Zinc_finger_C2H2-type;Matrin/U1-C-like,_C2H2-type_zinc_finger . . ID=COSV51738205;OCCURENCE=1(stomach) ZFHX3 238 0 480 89 0.156414762741652 TRUE TRUE ENSG00000140968.11 . BCM GRCh38.p13 chr16 85913213 85913213 + G G T Missense_Mutation SNP ENST00000268638.10 exon5 c.G530T p.W177L exonic ENSG00000140968.11 . nonsynonymous SNV ENSG00000140968.11:ENST00000268638.10:exon5:c.G530T:p.W177L 16q24.1 C3L-03743 . . . . . . . . . 12.20 D T B B N D L D N 0.676 D D D 0.589 0.484 0.970 1.101 T T D D D D 3.709 25.400 0.973 D D 0.020 2.584 0.187 3.122 1.000 0.646 0.696 0.602 0.542 . 4.860 4.860 7.622 1.176 0.676 1.000 1.000 0.999 969 Interferon_regulatory_factor_DNA-binding_domain . . . IRF8 329 0 660 60 0.0833333333333333 TRUE TRUE ENSG00000225614.4 . BCM GRCh38.p13 chr16 88434539 88434539 + G G A Missense_Mutation SNP ENST00000565624.3 exon3 c.G7069A p.G2357S exonic ENSG00000225614.4 . nonsynonymous SNV ENSG00000225614.4:ENST00000565624.3:exon3:c.G7069A:p.G2357S 16q24.2 C3L-03743 . . . . . . . . . 1.16 T T . . . N . T N 0.046 T T D 0.007 0.255 0.220 . T T T T T T 0.241 3.593 0.391 N N -1.354 0.137 -1.431 0.137 0.337 0.615 0.588 0.576 0.655 . 3.900 -3.670 -0.388 -0.182 0.618 0.000 0.000 0.001 . . . . . ZNF469 188 0 417 41 0.0895196506550218 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673776 7673776 + G G A Missense_Mutation SNP ENST00000269305.8 exon8 c.C844T p.R282W exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.C844T:p.R282W 17p13.1 C3L-03743 1.659e-05 0 0 0 0 3.014e-05 0 0 rs28934574 19.20 D D D D D A M D D 0.932 D D D 0.896 . 0.980 0.392 T D D D D D 4.401 31 0.999 D D 0.395 4.315 0.222 3.292 0.203 0.722 0.702 0.725 0.735 . 4.750 1.490 4.023 1.172 0.672 1.000 0.519 0.997 432 p53,_DNA-binding_domain . . ID=COSV52662048;OCCURENCE=1(salivary_gland),52(breast),2(peritoneum),6(liver),92(oesophagus),1(cervix),279(large_intestine),54(central_nervous_system),12(biliary_tract),1(pleura),6(vulva),25(ovary),3(bone),2(NS),20(haematopoietic_and_lymphoid_tissue),64(stomach),5(kidney),3(soft_tissue),22(urinary_tract),48(pancreas),21(skin),21(prostate),38(lung),6(thyroid),78(upper_aerodigestive_tract),3(thymus),3(small_intestine),13(endometrium) TP53 596 0 744 167 0.183315038419319 TRUE TRUE ENSG00000278540.5 . BCM GRCh38.p13 chr17 37243454 37243454 + T T C Missense_Mutation SNP ENST00000614428.4 exon22 c.A2737G p.N913D exonic ENSG00000278540.5 . nonsynonymous SNV ENSG00000278540.5:ENST00000614428.4:exon22:c.A2737G:p.N913D 17q12 C3L-03743 . . . . . . . . . 4.16 . T B B D D N . . 0.312 T T T 0.061 0.539 0.266 . T T T T D . 2.214 21.000 0.994 D N -0.214 1.837 -0.037 2.236 0.023 0.707 0.654 0.725 0.714 . 4.900 4.900 2.287 1.138 0.665 1.000 0.998 0.961 657 Acetyl-CoA_carboxylase,_central_domain . . . ACACA 195 1 362 80 0.180995475113122 TRUE TRUE ENSG00000171345.13 . BCM GRCh38.p13 chr17 41528058 41528069 + CGCCGCCGTAGG CGCCGCCGTAGG - In_Frame_Del DEL ENST00000361566.7 exon1 c.179_190del p.A60_G63del exonic ENSG00000171345.13 . nonframeshift deletion ENSG00000171345.13:ENST00000361566.7:exon1:c.179_190del:p.A60_G63del 17q21.2 C3L-03743 0.0004 0.0010 0.0003 0 0.0005 0.0004 0.0012 0 rs781617871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT19 288 0 621 65 0.0947521865889213 NA TRUE ENSG00000141449.14 . BCM GRCh38.p13 chr18 21500143 21500143 + G G A Missense_Mutation SNP ENST00000580732.6 exon22 c.G3806A p.R1269Q exonic ENSG00000141449.14 . nonsynonymous SNV ENSG00000141449.14:ENST00000580732.6:exon22:c.G3806A:p.R1269Q 18q11.2 C3L-03743 . . . . . . . . . 14.20 D D D D D D M T D 0.780 T T D 0.348 0.798 0.253 . T T D T D D 3.934 26.500 1.000 D D 0.738 7.691 0.670 7.221 1.000 0.615 0.588 0.602 0.655 . 4.440 4.440 8.999 1.176 0.676 1.000 0.862 0.714 402 . . . . GREB1L 217 0 592 41 0.0647709320695103 TRUE NA ENSG00000134490.14 . BCM GRCh38.p13 chr18 23373759 23373759 + G G C Missense_Mutation SNP ENST00000383233.8 exon7 c.C388G p.L130V exonic ENSG00000134490.14 . nonsynonymous SNV ENSG00000134490.14:ENST00000383233.8:exon7:c.C388G:p.L130V 18q11.2 C3L-03743 . . . . . . . . . 2.20 T T B B N D L T N 0.149 T T T 0.030 0.346 0.696 0.093 T T T T T T 1.674 16.850 0.929 D N -0.136 2.064 -0.100 2.048 0.952 0.742 0.654 0.775 0.636 . 5.990 1.980 1.191 0.210 -0.111 0.968 0.999 0.970 860 . . . . TMEM241 121 0 183 40 0.179372197309417 TRUE TRUE ENSG00000142303.14 . BCM GRCh38.p13 chr19 8603775 8603775 + C C T Missense_Mutation SNP ENST00000597188.6 exon5 c.G545A p.R182H exonic ENSG00000142303.14 . nonsynonymous SNV ENSG00000142303.14:ENST00000597188.6:exon5:c.G545A:p.R182H 19p13.2 C3L-03743 8.246e-06 0 8.657e-05 0 0 0 0 0 rs782567931 11.16 T D . . D D . T D 0.785 T T D 0.355 0.538 0.564 1.759 D . T D D D 3.956 26.700 1.000 D D 0.602 5.944 0.644 6.819 1.000 0.635 0.574 0.644 0.655 . 5.720 5.720 4.528 0.996 0.545 1.000 0.998 0.982 840 . . . ID=COSV54351680;OCCURENCE=1(large_intestine),3(kidney),1(prostate) ADAMTS10 224 0 382 66 0.147321428571429 TRUE TRUE ENSG00000126246.10 . BCM GRCh38.p13 chr19 35739740 35739740 + C C A Nonsense_Mutation SNP ENST00000246532.6 exon4 c.G691T p.E231X exonic ENSG00000126246.10 . stopgain ENSG00000126246.10:ENST00000246532.6:exon4:c.G691T:p.E231X 19q13.12 C3L-03743 . . . . . . . . . 3.6 . . . . U D . . . 0.028 . . . . . . . . . D D . . 5.872 35 0.976 N N -0.076 2.252 -0.464 1.261 1.000 0.726 0.686 0.594 0.604 . 4.650 -1.630 -0.690 1.000 0.599 0.000 0.008 0.004 698 . . . . IGFLR1 25 0 45 16 0.262295081967213 TRUE TRUE ENSG00000124126.14 . BCM GRCh38.p13 chr20 48666319 48666319 + C C T Missense_Mutation SNP ENST00000371941.4 exon15 c.G1702A p.G568S exonic ENSG00000124126.14 . nonsynonymous SNV ENSG00000124126.14:ENST00000371941.4:exon15:c.G1702A:p.G568S 20q13.13 C3L-03743 . . . . . . . . . 14.20 D D D D U D M T D 0.857 T T D 0.433 0.715 0.672 2.213 D T D T D D 3.592 25.000 0.999 D D 0.891 10.817 0.803 10.227 1.000 0.706 0.698 0.710 0.714 . 5.070 5.070 7.530 1.026 0.597 1.000 0.878 0.224 889 DEP_domain . . ID=COSV100906632;OCCURENCE=1(stomach) PREX1 215 0 449 64 0.124756335282651 TRUE TRUE ENSG00000087460.25 . BCM GRCh38.p13 chr20 58854836 58854836 + G G A Missense_Mutation SNP ENST00000371100.8 exon1 c.G1571A p.R524H exonic ENSG00000087460.25 . nonsynonymous SNV ENSG00000087460.25:ENST00000371100.8:exon1:c.G1571A:p.R524H 20q13.32 C3L-03743 9.858e-05 0 0 0.0008 0 0 0 0.0002 rs745875776 5.20 D T D B N N L D N 0.181 T D D 0.338 0.393 0.344 0.530 T T T T T T 1.442 15.360 0.983 N N -0.774 0.693 -0.945 0.560 1.000 0.598 0.627 0.504 0.639 . 3.070 1.030 -0.679 -1.193 -0.279 0.000 0.023 0.249 959 . . . ID=COSV58331713;OCCURENCE=3(large_intestine) GNAS 377 0 707 145 0.17018779342723 TRUE TRUE ENSG00000125510.18 . BCM GRCh38.p13 chr20 64098561 64098561 + C C T Missense_Mutation SNP ENST00000336866.7 exon5 c.C875T p.P292L exonic ENSG00000125510.18 . nonsynonymous SNV ENSG00000125510.18:ENST00000336866.7:exon5:c.C875T:p.P292L 20q13.33 C3L-03743 1.67e-05 0.0002 0 0 0 0 0 0 rs147804138 4.20 T T B B D D N T N 0.073 T T D 0.153 . 0.354 0.555 T T T T T T 1.548 16.040 0.972 D N -0.290 1.639 -0.176 1.846 1.000 0.615 0.588 0.659 0.586 . 5.050 4.100 1.142 0.992 0.578 0.246 0.109 0.062 . GPCR,_rhodopsin-like,_7TM . . . OPRL1 257 1 502 55 0.0987432675044883 TRUE NA ENSG00000198223.16 . BCM GRCh38.p13 chrX 1288852 1288852 + G G A Missense_Mutation SNP ENST00000381524.8 exon6 c.G437A p.R146H exonic ENSG00000198223.16 . nonsynonymous SNV ENSG00000198223.16:ENST00000381524.8:exon6:c.G437A:p.R146H Xp22.33 C3L-03743 4.948e-05 0 0.0003 0 0 1.498e-05 0 0.0001 rs759083963 2.19 T T B B U N L D N 0.322 T D T 0.214 0.621 0.706 0.151 T T T T T T -0.184 0.553 0.901 N . . . . . 0.995 . . . . . 2.020 -4.040 -0.981 -0.800 -1.109 0.000 0.002 0.001 . Type_I_cytokine_receptor,_cytokine-binding_domain;Short_hematopoietin_receptor,_family_2,_conserved_site . . ID=COSV62624542;OCCURENCE=1(ovary) CSF2RA 361 0 554 61 0.0991869918699187 TRUE TRUE ENSG00000171004.18 . BCM GRCh38.p13 chrX 132958562 132958562 + G G A Missense_Mutation SNP ENST00000370836.6 exon2 c.C41T p.P14L exonic ENSG00000171004.18 . nonsynonymous SNV ENSG00000171004.18:ENST00000370836.6:exon2:c.C41T:p.P14L Xq26.2 C3L-03743 6.543e-05 0.0008 0 0 0 0 0 0 rs780044877 4.19 D D P B N D N T N 0.451 T T D 0.333 0.190 0.806 1.032 T T T T T T 3.543 24.800 0.997 N . . . . . 1.000 . . . . . 3.790 2.910 2.541 0.212 -0.153 0.998 0.988 0.493 628 . . . ID=COSV63718619;OCCURENCE=1(thyroid) HS6ST2 103 0 214 16 0.0695652173913043 TRUE TRUE ENSG00000183837.9 . BCM GRCh38.p13 chrX 153057684 153057684 + G G A Missense_Mutation SNP ENST00000593810.2 exon1 c.G629A p.R210Q exonic ENSG00000183837.9 . nonsynonymous SNV ENSG00000183837.9:ENST00000593810.2:exon1:c.G629A:p.R210Q Xq28 C3L-03743 . . . . . . . . . 5.16 . D D D . N M T . 0.144 T T T 0.054 0.509 0.195 . T T T T T D 0.751 8.924 0.997 N . . . . . 0.020 . . . . . 1.980 1.100 0.098 1.141 0.612 0.000 0.011 0.462 77 . . . . PNMA3 311 0 604 48 0.0736196319018405 TRUE NA ENSG00000180879.14 . BCM GRCh38.p13 chrX 153797752 153797752 + G G A Missense_Mutation SNP ENST00000370086.8 exon4 c.G289A p.A97T exonic ENSG00000180879.14 . nonsynonymous SNV ENSG00000180879.14:ENST00000370086.8:exon4:c.G289A:p.A97T Xq28 C3L-03743 . . . . . . . . . 10.19 T T D P D D M T D 0.603 T T D 0.402 0.701 0.787 0.664 T T D D D T 2.561 22.600 0.999 D . . . . . 1.000 . . . . . 5.600 5.600 7.248 1.175 0.676 1.000 0.589 0.066 65 . . . . SSR4 245 0 495 39 0.0730337078651685 TRUE NA ENSG00000075539.15 . BCM GRCh38.p13 chr4 48521047 48521047 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000075539.15 ENST00000358350.9:exon55:c.7689+1G>A . . 4p11 C3L-03743 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.030 33 0.994 D . 1.152 20.175 1.003 19.039 1.000 0.156 0.156 0.126 0.118 0.985 5.610 5.610 7.568 1.026 0.599 1.000 0.998 0.909 132 . . . . FRYL 58 0 109 13 0.10655737704918 TRUE TRUE ENSG00000113569.16 . BCM GRCh38.p13 chr5 37341089 37341089 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000113569.16 ENST00000231498.8:exon11:c.1246+1G>T . . 5p13.2 C3L-03743 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.578 34 0.995 D . 1.173 21.528 1.028 20.683 1.000 0.099 0.105 0.138 0.118 0.990 5.430 5.430 7.196 1.026 0.549 1.000 1.000 0.996 174 . . . . NUP155 167 0 322 43 0.117808219178082 TRUE TRUE ENSG00000187642.9 . BCM GRCh38.p13 chr1 979122 979122 + C C T Silent SNP ENST00000433179.3 exon1 c.G1908A p.P636P exonic ENSG00000187642.9 . synonymous SNV ENSG00000187642.9:ENST00000433179.3:exon1:c.G1908A:p.P636P 1p36.33 C3L-03743 6.96e-05 0 0 0 0 0.0002 0 0 rs759972334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100378962;OCCURENCE=1(large_intestine) PERM1 99 0 220 30 0.12 TRUE NA ENSG00000179403.12 . BCM GRCh38.p13 chr1 1439640 1439640 + C C T Silent SNP ENST00000476993.2 exon3 c.C1191T p.T397T exonic ENSG00000179403.12 . synonymous SNV ENSG00000179403.12:ENST00000476993.2:exon3:c.C1191T:p.T397T 1p36.33 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA1 85 0 256 29 0.101754385964912 TRUE NA ENSG00000183317.17 . BCM GRCh38.p13 chr1 37731454 37731454 + G G T Silent SNP ENST00000373048.9 exon7 c.C1620A p.A540A exonic ENSG00000183317.17 . synonymous SNV ENSG00000183317.17:ENST00000373048.9:exon7:c.C1620A:p.A540A 1p34.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPHA10 98 0 171 18 0.0952380952380952 TRUE TRUE ENSG00000189181.5 . BCM GRCh38.p13 chr1 248681846 248681846 + G G A Silent SNP ENST00000342623.5 exon1 c.C459T p.Y153Y exonic ENSG00000189181.5 . synonymous SNV ENSG00000189181.5:ENST00000342623.5:exon1:c.C459T:p.Y153Y 1q44 C3L-03743 9.071e-05 0 0.0002 0.0003 0 2.999e-05 0 0.0002 rs200035502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61199435;OCCURENCE=1(large_intestine),1(lung) OR14I1 165 0 280 26 0.0849673202614379 TRUE TRUE ENSG00000155052.14 . BCM GRCh38.p13 chr2 124902892 124902892 + T T C Silent SNP ENST00000431078.1 exon22 c.T3444C p.G1148G exonic ENSG00000155052.14 . synonymous SNV ENSG00000155052.14:ENST00000431078.1:exon22:c.T3444C:p.G1148G 2q14.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTNAP5 58 0 125 10 0.0740740740740741 TRUE TRUE ENSG00000144821.10 . BCM GRCh38.p13 chr3 108414411 108414411 + G G T Silent SNP ENST00000273353.4 exon31 c.C4026A p.A1342A exonic ENSG00000144821.10 . synonymous SNV ENSG00000144821.10:ENST00000273353.4:exon31:c.C4026A:p.A1342A 3q13.13 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH15 100 0 237 16 0.0632411067193676 TRUE TRUE ENSG00000206260.4 . BCM GRCh38.p13 chr3 139006230 139006230 + C C T Silent SNP ENST00000383163.4 exon1 c.G39A p.A13A exonic ENSG00000206260.4 . synonymous SNV ENSG00000206260.4:ENST00000383163.4:exon1:c.G39A:p.A13A 3q23 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101270305;OCCURENCE=1(oesophagus) PRR23A 207 0 509 29 0.0539033457249071 NA TRUE ENSG00000138741.11 . BCM GRCh38.p13 chr4 121932481 121932481 + G G A Silent SNP ENST00000379645.8 exon2 c.C777T p.I259I exonic ENSG00000138741.11 . synonymous SNV ENSG00000138741.11:ENST00000379645.8:exon2:c.C777T:p.I259I 4q27 C3L-03743 . . . . . . . . rs201449030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53373268;OCCURENCE=1(large_intestine) TRPC3 311 0 586 56 0.0872274143302181 TRUE TRUE ENSG00000066230.12 . BCM GRCh38.p13 chr5 479953 479953 + G G A Silent SNP ENST00000264938.8 exon10 c.C1530T p.F510F exonic ENSG00000066230.12 . synonymous SNV ENSG00000066230.12:ENST00000264938.8:exon10:c.C1530T:p.F510F 5p15.33 C3L-03743 8.276e-06 9.638e-05 0 0 0 0 0 0 rs369450763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99375525;OCCURENCE=1(breast),1(endometrium) SLC9A3 131 0 270 19 0.0657439446366782 TRUE NA ENSG00000112964.14 . BCM GRCh38.p13 chr5 42718959 42718959 + C C T Silent SNP ENST00000230882.9 exon10 c.C1452T p.I484I exonic ENSG00000112964.14 . synonymous SNV ENSG00000112964.14:ENST00000230882.9:exon10:c.C1452T:p.I484I 5p12 C3L-03743 8.283e-06 0 0 0 0 1.503e-05 0 0 rs778616140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50111829;OCCURENCE=1(endometrium) GHR 122 1 169 33 0.163366336633663 TRUE TRUE ENSG00000248383.4 . BCM GRCh38.p13 chr5 140928551 140928551 + G G A Silent SNP ENST00000253807.2 exon1 c.G1659A p.P553P exonic ENSG00000248383.4 . synonymous SNV ENSG00000248383.4:ENST00000253807.2:exon1:c.G1659A:p.P553P 5q31.3 C3L-03743 8.239e-06 0 0 0 0.0002 0 0 0 rs782615304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99167542;OCCURENCE=1(endometrium) PCDHAC1 191 0 334 32 0.087431693989071 TRUE NA ENSG00000113212.7 . BCM GRCh38.p13 chr5 141174575 141174575 + C C T Silent SNP ENST00000231137.6 exon1 c.C1740T p.A580A exonic ENSG00000113212.7 . synonymous SNV ENSG00000113212.7:ENST00000231137.6:exon1:c.C1740T:p.A580A 5q31.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99177223;OCCURENCE=1(endometrium) PCDHB7 924 1 1479 251 0.145086705202312 NA TRUE ENSG00000137285.10 . BCM GRCh38.p13 chr6 3225399 3225399 + C C T Silent SNP ENST00000259818.8 exon4 c.G690A p.S230S exonic ENSG00000137285.10 . synonymous SNV ENSG00000137285.10:ENST00000259818.8:exon4:c.G690A:p.S230S 6p25.2 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TUBB2B 320 0 509 82 0.138747884940778 NA TRUE ENSG00000146828.18 . BCM GRCh38.p13 chr7 100858896 100858896 + C C T Silent SNP ENST00000354161.8 exon6 c.C819T p.V273V exonic ENSG00000146828.18 . synonymous SNV ENSG00000146828.18:ENST00000354161.8:exon6:c.C819T:p.V273V 7q22.1 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC12A9 215 1 544 40 0.0684931506849315 TRUE TRUE ENSG00000236279.7 . BCM GRCh38.p13 chr7 139542080 139542080 + C C T Silent SNP ENST00000422142.7 exon4 c.C492T p.D164D exonic ENSG00000236279.7 . synonymous SNV ENSG00000236279.7:ENST00000422142.7:exon4:c.C492T:p.D164D 7q34 C3L-03743 9.766e-06 0 0 0.0001 0 0 0 0 rs547876426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV70691354;OCCURENCE=1(large_intestine) CLEC2L 216 0 378 40 0.0956937799043062 TRUE TRUE ENSG00000168453.15 . BCM GRCh38.p13 chr8 22128598 22128598 + G G A Silent SNP ENST00000381418.9 exon2 c.C573T p.G191G exonic ENSG00000168453.15 . synonymous SNV ENSG00000168453.15:ENST00000381418.9:exon2:c.C573T:p.G191G 8p21.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HR 359 0 473 123 0.206375838926175 TRUE TRUE ENSG00000091656.19 . BCM GRCh38.p13 chr8 76704481 76704481 + C C T Silent SNP ENST00000651372.2 exon2 c.C393T p.I131I exonic ENSG00000091656.19 . synonymous SNV ENSG00000091656.19:ENST00000651372.2:exon2:c.C393T:p.I131I 8q21.13 C3L-03743 0.0004 0 0.0006 0 0 0.0003 0.0011 0.0016 rs187480056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50809903;OCCURENCE=1(large_intestine),3(skin) ZFHX4 227 0 430 25 0.0549450549450549 TRUE TRUE ENSG00000070756.16 . BCM GRCh38.p13 chr8 100706891 100706891 + A A G Silent SNP ENST00000318607.10 exon10 c.T1443C p.R481R exonic ENSG00000070756.16 . synonymous SNV ENSG00000070756.16:ENST00000318607.10:exon10:c.T1443C:p.R481R 8q22.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PABPC1 219 0 442 33 0.0694736842105263 TRUE TRUE ENSG00000064218.5 . BCM GRCh38.p13 chr9 977193 977193 + G G T Silent SNP ENST00000190165.3 exon1 c.G192T p.R64R exonic ENSG00000064218.5 . synonymous SNV ENSG00000064218.5:ENST00000190165.3:exon1:c.G192T:p.R64R 9p24.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMRT3 266 0 420 57 0.119496855345912 TRUE TRUE ENSG00000083067.22 . BCM GRCh38.p13 chr9 70625239 70625239 + C C T Silent SNP ENST00000357533.6 exon14 c.G1767A p.T589T exonic ENSG00000083067.22 . synonymous SNV ENSG00000083067.22:ENST00000357533.6:exon14:c.G1767A:p.T589T 9q21.12 C3L-03743 8.303e-06 0 0 0 0 1.508e-05 0 0 rs763892148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRPM3 256 0 522 95 0.153970826580227 TRUE NA ENSG00000095596.12 . BCM GRCh38.p13 chr10 93076612 93076612 + C C T Silent SNP ENST00000224356.5 exon6 c.C1068T p.I356I exonic ENSG00000095596.12 . synonymous SNV ENSG00000095596.12:ENST00000224356.5:exon6:c.C1068T:p.I356I 10q23.33 C3L-03743 4.12e-05 0 0 0.0001 0 0 0 0.0002 rs771602770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56418195;OCCURENCE=1(large_intestine) CYP26A1 102 0 149 27 0.153409090909091 TRUE TRUE ENSG00000061987.16 . BCM GRCh38.p13 chr12 62592665 62592665 + C C T Silent SNP ENST00000393630.8 exon35 c.C5070T p.V1690V exonic ENSG00000061987.16 . synonymous SNV ENSG00000061987.16:ENST00000393630.8:exon35:c.C5070T:p.V1690V 12q14.1 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MON2 62 0 115 12 0.094488188976378 TRUE TRUE ENSG00000136099.13 . BCM GRCh38.p13 chr13 52848050 52848050 + G G A Silent SNP ENST00000377942.7 exon1 c.C387T p.N129N exonic ENSG00000136099.13 . synonymous SNV ENSG00000136099.13:ENST00000377942.7:exon1:c.C387T:p.N129N 13q14.3 C3L-03743 . . . . . . . . rs200833172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDH8 167 0 347 28 0.0746666666666667 TRUE NA ENSG00000198542.14 . BCM GRCh38.p13 chr13 101454093 101454093 + C C G Silent SNP ENST00000376180.8 exon2 c.C309G p.T103T exonic ENSG00000198542.14 . synonymous SNV ENSG00000198542.14:ENST00000376180.8:exon2:c.C309G:p.T103T 13q33.1 C3L-03743 . . . . . . . . . 3.11 . D . . . D . . . 0.172 T T . 0.044 . 0.299 . . T T T T T 1.046 12.180 0.810 D N -0.017 2.452 0.009 2.390 1.000 0.493 0.476 0.596 0.628 . 5.800 3.090 -0.090 0.125 -0.190 0.726 0.965 0.934 951 . . . . ITGBL1 129 0 259 63 0.195652173913043 TRUE NA ENSG00000132613.15 . BCM GRCh38.p13 chr16 70663941 70663941 + G G A Silent SNP ENST00000338779.11 exon15 c.C1980T p.A660A exonic ENSG00000132613.15 . synonymous SNV ENSG00000132613.15:ENST00000338779.11:exon15:c.C1980T:p.A660A 16q22.1 C3L-03743 0 0 0 0 0 0 0 0 rs568672711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTSS2 284 0 660 51 0.0717299578059072 TRUE NA ENSG00000007237.18 . BCM GRCh38.p13 chr17 9959238 9959238 + C C T Silent SNP ENST00000432992.6 exon5 c.G489A p.S163S exonic ENSG00000007237.18 . synonymous SNV ENSG00000007237.18:ENST00000432992.6:exon5:c.G489A:p.S163S 17p13.1 C3L-03743 0.0004 0.0002 0.0004 0 0 0.0006 0 0.0002 rs142589082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60432134;OCCURENCE=1(large_intestine),1(endometrium) GAS7 130 0 215 29 0.118852459016393 TRUE TRUE ENSG00000142449.13 . BCM GRCh38.p13 chr19 8135977 8135977 + G G A Silent SNP ENST00000600128.6 exon13 c.C1575T p.D525D exonic ENSG00000142449.13 . synonymous SNV ENSG00000142449.13:ENST00000600128.6:exon13:c.C1575T:p.D525D 19p13.2 C3L-03743 0.0164 0.1075 0.0170 0 0 0.0024 0.0095 0.0008 rs80125054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54453740;OCCURENCE=1(oesophagus) FBN3 229 1 395 36 0.0835266821345708 TRUE TRUE ENSG00000075702.18 . BCM GRCh38.p13 chr19 36086703 36086703 + C C A Silent SNP ENST00000270301.11 exon13 c.C1659A p.A553A exonic ENSG00000075702.18 . synonymous SNV ENSG00000075702.18:ENST00000270301.11:exon13:c.C1659A:p.A553A 19q13.12 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR62 471 0 1058 86 0.0751748251748252 TRUE TRUE ENSG00000249861.4 . BCM GRCh38.p13 chr19 39660475 39660475 + A A G Silent SNP ENST00000392051.4 exon4 c.A384G p.R128R exonic ENSG00000249861.4 . synonymous SNV ENSG00000249861.4:ENST00000392051.4:exon4:c.A384G:p.R128R 19q13.2 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LGALS16 216 0 271 113 0.294270833333333 TRUE TRUE ENSG00000126464.14 . BCM GRCh38.p13 chr19 49599757 49599757 + C C T Silent SNP ENST00000418929.7 exon5 c.C4164T p.V1388V exonic ENSG00000126464.14 . synonymous SNV ENSG00000126464.14:ENST00000418929.7:exon5:c.C4164T:p.V1388V 19q13.33 C3L-03743 . . . . . . . . rs752042891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV69816723;OCCURENCE=1(liver) PRR12 287 0 685 37 0.0512465373961219 TRUE NA ENSG00000142513.6 . BCM GRCh38.p13 chr19 50794945 50794945 + T T C Silent SNP ENST00000270593.2 exon10 c.T1146C p.Y382Y exonic ENSG00000142513.6 . synonymous SNV ENSG00000142513.6:ENST00000270593.2:exon10:c.T1146C:p.Y382Y 19q13.33 C3L-03743 6.705e-05 0 0 0 0 0 0 0.0005 rs773944011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACP4 106 0 161 91 0.361111111111111 TRUE NA ENSG00000125831.10 . BCM GRCh38.p13 chr20 23451849 23451849 + C C T Silent SNP ENST00000377009.8 exon2 c.G300A p.T100T exonic ENSG00000125831.10 . synonymous SNV ENSG00000125831.10:ENST00000377009.8:exon2:c.G300A:p.T100T 20p11.21 C3L-03743 3.298e-05 0 0 0 0.0003 1.5e-05 0 6.069e-05 rs770430472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65440441;OCCURENCE=1(large_intestine),1(bone),1(NS),1(pancreas),4(skin) CST11 90 0 144 29 0.167630057803468 TRUE TRUE ENSG00000100426.7 . BCM GRCh38.p13 chr22 49886404 49886404 + C C T Silent SNP ENST00000216268.6 exon2 c.C2742T p.V914V exonic ENSG00000100426.7 . synonymous SNV ENSG00000100426.7:ENST00000216268.6:exon2:c.C2742T:p.V914V 22q13.33 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53464482;OCCURENCE=1(endometrium) ZBED4 33 0 60 4 0.0625 TRUE TRUE ENSG00000135842.17 . BCM GRCh38.p13 chr1 184808011 184808011 + C C A Intron SNP NA NA NA NA intronic ENSG00000135842.17 . . . 1q25.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NIBAN1 156 0 231 54 0.189473684210526 TRUE NA ENSG00000105889.15 . BCM GRCh38.p13 chr7 22438686 22438686 + C C T Intron SNP NA NA NA NA intronic ENSG00000105889.15 . . . 7p15.3 C3L-03743 . . . . . . . . . 0.15 T T . . . N . T N 0.042 T T T 0.028 0.175 0.014 1.336 T . T T T T -0.044 1.083 0.068 N N -1.238 0.201 -1.288 0.217 0.999 0.615 0.492 0.602 0.655 . 0.982 0.982 -0.227 0.830 0.545 0.000 0.018 0.004 926 . . . . STEAP1B 243 1 418 88 0.173913043478261 TRUE TRUE ENSG00000036448.10 . BCM GRCh38.p13 chr8 2201166 2201166 + C C T IGR SNP NA NA NA NA intergenic ENSG00000036448.10;ENSG00000253444.1 dist=55710;dist=292710 . . 8p23.3 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYOM2 463 1 736 61 0.0765370138017566 TRUE NA ENSG00000222468.1 . BCM GRCh38.p13 chr8 31640287 31640287 + G G A IGR SNP NA NA NA NA intergenic ENSG00000222468.1;ENSG00000286648.1 dist=42083;dist=186951 . . 8p12 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNA5SP261 14 0 27 5 0.15625 TRUE TRUE ENSG00000066827.16 . BCM GRCh38.p13 chr8 134510062 134510062 + G G A Intron SNP NA NA NA NA intronic ENSG00000066827.16 . . . 8q24.22 C3L-03743 . . . . . . . . . 1.12 D T . . . N . . N . T T . 0.023 0.264 0.092 . . . T T T T 0.261 3.832 0.857 N N -1.087 0.318 -1.275 0.226 0.995 0.487 0.573 0.574 0.564 . 4.010 -3.160 0.155 -0.665 -1.117 0.000 0.000 0.000 964 . . . . ZFAT 138 0 287 65 0.184659090909091 TRUE NA ENSG00000254872.3 . BCM GRCh38.p13 chr11 1100770 1100770 + C C T IGR SNP NA NA NA NA intergenic ENSG00000254872.3;ENSG00000198788.8 dist=45021;dist=1685 . . 11p15.5 C3L-03743 8.998e-05 0.0003 8.78e-05 0.0001 0 0 0 0.0004 rs368859604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02688 30 0 58 19 0.246753246753247 TRUE NA ENSG00000170608.3 . BCM GRCh38.p13 chr19 45864456 45864456 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000170608.3 ENST00000302177.3:c.-1G>A . . 19q13.32 C3L-03743 5.847e-05 0 0 0 0 0.0001 0 0 rs776599578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXA3 22 0 49 21 0.3 TRUE NA ENSG00000167077.13 . BCM GRCh38.p13 chr22 41793914 41793914 + G G C Intron SNP NA NA NA NA intronic ENSG00000167077.13 . . . 22q13.2 C3L-03743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEI1 184 0 336 23 0.064066852367688 TRUE NA ENSG00000198483.13 . BCM GRCh38.p13 chr1 145873063 145873063 + C C T Missense_Mutation SNP ENST00000355594.9 exon10 c.G1706A p.G569E exonic ENSG00000198483.13 . nonsynonymous SNV ENSG00000198483.13:ENST00000355594.9:exon10:c.G1706A:p.G569E 1q21.1 C3N-00511 . . . . . . . . . 0.7 T T . . . . . T N 0.071 . . . . . . . . T . . . T 0.859 9.994 . . N . . . . . . . . . . . . 0.185 1.022 0.596 0.000 0.951 0.976 . . . . ID=COSV100841784;OCCURENCE=1(skin) ANKRD35 64 1 155 46 0.228855721393035 TRUE TRUE ENSG00000143190.23 . BCM GRCh38.p13 chr1 167396359 167396359 + C C G Missense_Mutation SNP ENST00000541643.7 exon11 c.C992G p.A331G exonic ENSG00000143190.23 . nonsynonymous SNV ENSG00000143190.23:ENST00000541643.7:exon11:c.C992G:p.A331G 1q24.2 C3N-00511 . . . . . . . . . 19.20 D D D D D D M D D 0.727 D D D 0.632 0.733 0.865 0.365 D D D D D T 3.983 26.900 0.997 D D 0.917 11.492 0.921 14.666 1.000 0.707 0.725 0.725 0.568 . 6.170 6.170 7.903 1.026 0.599 1.000 1.000 1.000 777 POU-specific_domain;POU_domain . . . POU2F1 173 0 305 58 0.159779614325069 TRUE TRUE ENSG00000066279.18 . BCM GRCh38.p13 chr1 197100872 197100872 + C C T Missense_Mutation SNP ENST00000367409.9 exon18 c.G8379A p.M2793I exonic ENSG00000066279.18 . nonsynonymous SNV ENSG00000066279.18:ENST00000367409.9:exon18:c.G8379A:p.M2793I 1q31.3 C3N-00511 8.262e-06 0 0 0 0 1.501e-05 0 0 rs376057172 0.20 T T B B N N N T N 0.053 T T T 0.011 . 0.061 . T T T T T T -0.098 0.837 0.351 N N -1.534 0.071 -1.533 0.096 0.901 0.706 0.710 0.644 0.613 . 4.490 -3.490 -0.248 -0.369 -0.898 0.000 0.001 0.017 179 . . . ID=COSV54129461;OCCURENCE=1(large_intestine) ASPM 367 0 947 186 0.164165931156222 TRUE TRUE ENSG00000116962.15 . BCM GRCh38.p13 chr1 236029604 236029604 + C C T Missense_Mutation SNP ENST00000264187.7 exon7 c.G1684A p.G562S exonic ENSG00000116962.15 . nonsynonymous SNV ENSG00000116962.15:ENST00000264187.7:exon7:c.G1684A:p.G562S 1q42.3 C3N-00511 0.0002 0 0 0 0 0 0 0.0006 rs536352898 11.20 T T D D D D M T D 0.691 T T D 0.240 . 0.612 0.817 T T T T D D 3.852 26.100 0.998 D D 0.672 6.746 0.602 6.247 1.000 0.706 0.725 0.710 0.714 . 5.400 5.400 5.788 1.026 0.599 1.000 0.025 0.334 472 G2_nidogen/fibulin_G2F . . ID=COSV51615314;OCCURENCE=3(haematopoietic_and_lymphoid_tissue) NID1 285 0 644 154 0.192982456140351 TRUE TRUE ENSG00000115705.22 . BCM GRCh38.p13 chr2 1496033 1496033 + G G A Missense_Mutation SNP ENST00000329066.9 exon12 c.G2051A p.R684H exonic ENSG00000115705.22 . nonsynonymous SNV ENSG00000115705.22:ENST00000329066.9:exon12:c.G2051A:p.R684H 2p25.3 C3N-00511 0.0001 0.0002 0.0004 0 0 0 0 0.0003 rs151064519 0.20 T T B B N N L T N 0.120 T T T 0.127 . 0.669 0.199 T T T T T T -0.114 0.775 0.879 N N -1.310 0.159 -1.500 0.108 1.000 0.487 0.574 0.578 0.613 . 4.520 -6.690 -0.172 -2.469 -1.498 0.000 0.000 0.068 889 . . . . TPO 275 1 547 142 0.206095791001451 TRUE NA ENSG00000173559.14 . BCM GRCh38.p13 chr2 191685709 191685709 + C C T Nonsense_Mutation SNP ENST00000425611.8 exon6 c.C556T p.Q186X exonic ENSG00000173559.14 . stopgain ENSG00000173559.14:ENST00000425611.8:exon6:c.C556T:p.Q186X 2q32.3 C3N-00511 . . . . . . . . . 4.6 . . . . N D . . . 0.344 . . . . . . . . . D D . . 6.914 36 0.993 D N 0.834 9.489 0.625 6.554 1.000 0.722 0.702 0.602 0.735 . 5.350 5.350 3.929 1.008 0.599 0.999 0.900 0.082 523 . . . . NABP1 179 0 319 84 0.208436724565757 TRUE TRUE ENSG00000085982.13 . BCM GRCh38.p13 chr2 233529467 233529467 + T T C Missense_Mutation SNP ENST00000251722.10 exon12 c.A1514G p.E505G exonic ENSG00000085982.13 . nonsynonymous SNV ENSG00000085982.13:ENST00000251722.10:exon12:c.A1514G:p.E505G 2q37.1 C3N-00511 . . . . . . . . . 11.20 D D D D N D M T D 0.648 T T T 0.221 0.326 0.301 0.294 T T T T D D 4.137 28.100 0.999 D D 0.551 5.458 0.520 5.344 1.000 0.651 0.634 0.653 0.684 . 5.760 4.590 4.144 1.134 0.661 1.000 1.000 0.999 923 . . . . USP40 85 0 197 51 0.205645161290323 TRUE TRUE ENSG00000163618.18 . BCM GRCh38.p13 chr3 62516593 62516593 + G G A Missense_Mutation SNP ENST00000383710.9 exon15 c.C2444T p.S815L exonic ENSG00000163618.18 . nonsynonymous SNV ENSG00000163618.18:ENST00000383710.9:exon15:c.C2444T:p.S815L 3p14.2 C3N-00511 . . . . . . . . . 16.20 D D D D D D L T D 0.805 T T D 0.516 0.422 0.660 0.708 D D D D D D 3.597 25.000 0.999 D D 0.854 9.939 0.884 13.092 1.000 0.638 0.574 0.653 0.542 . 5.950 5.950 10.003 1.176 0.676 1.000 1.000 1.000 605 . . . ID=COSV51901891;OCCURENCE=1(liver) CADPS 43 0 104 17 0.140495867768595 TRUE TRUE ENSG00000227124.11 . BCM GRCh38.p13 chr3 75738238 75738238 + T T A Missense_Mutation SNP ENST00000652011.2 exon5 c.A1385T p.N462I exonic ENSG00000227124.11 . nonsynonymous SNV ENSG00000227124.11:ENST00000652011.2:exon5:c.A1385T:p.N462I 3p12.3 C3N-00511 . . . . . . . . . 0.15 T T . . . N . T N 0.142 T T T 0.044 . 0.014 . T . T T T T 0.338 4.732 0.561 N N -1.079 0.325 -1.267 0.231 1.000 0.566 0.616 0.576 0.264 . 1.750 -0.910 -5.434 0.460 0.551 0.000 0.001 0.001 987 Zinc_finger_C2H2-type . . . ZNF717 164 1 367 88 0.193406593406593 NA TRUE ENSG00000168386.18 . BCM GRCh38.p13 chr3 99849839 99849839 + T T A Nonsense_Mutation SNP ENST00000354552.7 exon5 c.A1837T p.K613X exonic ENSG00000168386.18 . stopgain ENSG00000168386.18:ENST00000354552.7:exon5:c.A1837T:p.K613X 3q12.1 C3N-00511 . . . . . . . . . 4.6 . . . . N D . . . 0.925 . . . . . . . . . D D . . 7.225 37 0.996 D N 0.876 10.457 0.764 9.147 1.000 0.707 0.588 0.547 0.714 . 5.790 5.790 6.083 1.138 0.660 1.000 0.995 0.995 445 . . . . FILIP1L 62 0 170 28 0.141414141414141 TRUE TRUE ENSG00000114573.10 . BCM GRCh38.p13 chr3 113795934 113795934 + G G A Missense_Mutation SNP ENST00000273398.8 exon11 c.G1285A p.V429I exonic ENSG00000114573.10 . nonsynonymous SNV ENSG00000114573.10:ENST00000273398.8:exon11:c.G1285A:p.V429I 3q13.31 C3N-00511 8.247e-06 0 0 0 0 0 0 6.059e-05 rs759887224 15.20 D T D D D D M T N 0.492 D D D 0.574 . 0.772 1.229 D D T T D D 3.908 26.400 0.999 D D 0.873 10.368 0.850 11.761 1.000 0.745 0.732 0.744 0.584 . 5.560 5.560 9.298 1.176 0.676 1.000 0.997 0.954 300 ATPase,_F1/V1/A1_complex,_alpha/beta_subunit,_nucleotide-binding_domain . . ID=COSV56363383;OCCURENCE=3(large_intestine) ATP6V1A 128 0 204 45 0.180722891566265 TRUE TRUE ENSG00000114127.10 . BCM GRCh38.p13 chr3 142311584 142311584 + G G - Frame_Shift_Del NA ENST00000264951.8 exon42 c.5048delC p.T1683Nfs*29 exonic ENSG00000114127.10 . frameshift deletion ENSG00000114127.10:ENST00000264951.8:exon42:c.5048delC:p.T1683Nfs*29 3q23 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XRN1 135 0 213 60 0.21978021978022 TRUE TRUE ENSG00000174004.6 . BCM GRCh38.p13 chr3 196659767 196659767 + G G A Missense_Mutation SNP ENST00000328557.5 exon3 c.G124A p.D42N exonic ENSG00000174004.6 . nonsynonymous SNV ENSG00000174004.6:ENST00000328557.5:exon3:c.G124A:p.D42N 3q29 C3N-00511 . . . . . . . . . 2.19 T T B B N N . T N 0.193 T T T 0.093 0.433 0.408 0.379 T T T T D T 2.250 21.200 0.954 D N -0.236 1.777 -0.107 2.028 1.000 0.672 0.702 0.659 0.684 . 6.060 4.280 2.040 1.176 0.674 0.985 0.831 0.860 500 . . . . NRROS 45 0 105 11 0.0948275862068965 TRUE TRUE ENSG00000248713.1 . BCM GRCh38.p13 chr4 99654585 99654585 + C C T Missense_Mutation SNP ENST00000511828.1 exon1 c.G64A p.D22N exonic ENSG00000248713.1 . nonsynonymous SNV ENSG00000248713.1:ENST00000511828.1:exon1:c.G64A:p.D22N 4q23 C3N-00511 0.0002 0 0.0053 0 0 0 0 0.0001 rs753181667 0.14 T T . . . . . T N 0.094 T T T 0.047 0.225 0.102 . . T T T T T 1.839 18.020 0.908 N N -0.627 0.940 -0.645 0.979 1.000 0.487 0.574 0.574 0.564 . 4.900 -1.700 0.696 -0.213 -0.176 1.000 0.946 0.961 927 . . . . C4orf54 93 1 236 55 0.189003436426117 TRUE NA ENSG00000171444.18 . BCM GRCh38.p13 chr5 113143357 113143357 + C C T Missense_Mutation SNP ENST00000302475.8 exon3 c.G175A p.E59K exonic ENSG00000171444.18 . nonsynonymous SNV ENSG00000171444.18:ENST00000302475.8:exon3:c.G175A:p.E59K 5q22.2 C3N-00511 0.0001 0.0013 8.651e-05 0 0.0002 3.001e-05 0 0 rs202120785 14.20 D D D D D D L T N 0.901 D D D 0.289 . 0.870 0.453 D T T D T D 3.493 24.700 0.999 D D 0.681 6.865 0.714 8.031 1.000 0.706 0.563 0.710 0.613 . 5.960 5.960 6.002 1.026 0.599 1.000 0.987 0.865 914 . . . ID=COSV56727288;OCCURENCE=1(urinary_tract) MCC 209 0 299 82 0.215223097112861 TRUE TRUE ENSG00000120738.8 . BCM GRCh38.p13 chr5 138466903 138466903 + G G A Missense_Mutation SNP ENST00000239938.5 exon2 c.G454A p.E152K exonic ENSG00000120738.8 . nonsynonymous SNV ENSG00000120738.8:ENST00000239938.5:exon2:c.G454A:p.E152K 5q31.2 C3N-00511 8.238e-06 0 8.637e-05 0 0 0 0 0 rs767122422 14.20 D D D D D D M T N 0.861 T T D 0.416 0.296 0.738 0.942 T T D D D D 4.580 32 0.999 D D 0.790 8.588 0.760 9.032 1.000 0.726 0.594 0.594 0.555 . 4.890 4.890 10.003 1.176 0.676 1.000 0.997 0.990 370 Early_growth_response_protein . . . EGR1 164 1 397 93 0.189795918367347 TRUE NA ENSG00000253731.3 . BCM GRCh38.p13 chr5 141376310 141376310 + G G A Missense_Mutation SNP ENST00000517434.3 exon1 c.G2227A p.V743M exonic ENSG00000253731.3 . nonsynonymous SNV ENSG00000253731.3:ENST00000517434.3:exon1:c.G2227A:p.V743M 5q31.3 C3N-00511 . . . . . . . . . 1.19 T T B B N D L T N 0.068 T T T 0.108 0.469 0.452 0.324 . T T T T T 0.823 9.623 0.959 N N -0.861 0.570 -0.924 0.588 0.077 0.701 0.588 0.717 0.616 . 5.150 -0.377 0.359 -0.486 -0.733 0.010 0.012 0.018 651 Cadherin,_cytoplasmic_C-terminal_domain . . ID=COSV53899875;OCCURENCE=2(large_intestine),1(pancreas) PCDHGA6 402 0 868 191 0.180358829084042 NA TRUE ENSG00000134516.18 . BCM GRCh38.p13 chr5 170042077 170042077 + G G A Missense_Mutation SNP ENST00000520908.7 exon38 c.G3821A p.R1274Q exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon38:c.G3821A:p.R1274Q 5q35.1 C3N-00511 . . . . . . . . rs145262338 8.20 D T D P D D L T N 0.433 T T T 0.285 . 0.772 0.692 T T T T D D 3.617 25.100 0.998 D D 0.466 4.781 0.513 5.276 1.000 0.672 0.702 0.616 0.542 . 5.180 5.180 8.146 1.176 0.676 1.000 0.999 0.830 964 DHR-2_domain;Dedicator_of_cytokinesis,_C-terminal . . ID=COSV99911970;OCCURENCE=1(large_intestine) DOCK2 167 1 385 97 0.201244813278008 TRUE NA ENSG00000154678.18 . BCM GRCh38.p13 chr7 31879058 31879058 + G G C Missense_Mutation SNP ENST00000396191.6 exon4 c.C363G p.S121R exonic ENSG00000154678.18 . nonsynonymous SNV ENSG00000154678.18:ENST00000396191.6:exon4:c.C363G:p.S121R 7p14.3 C3N-00511 . . . . . . . . . 4.20 T T B B N N L T D 0.495 T T D 0.322 0.434 0.277 0.713 T T T T D D 0.529 6.805 0.955 N N -1.491 0.084 -1.618 0.070 1.000 0.554 0.547 0.602 0.568 . 5.870 -11.200 -4.697 -0.735 -0.668 0.000 0.909 0.964 865 3'5'-cyclic_nucleotide_phosphodiesterase_N-terminal . . . PDE1C 140 0 324 83 0.203931203931204 TRUE TRUE ENSG00000005469.12 . BCM GRCh38.p13 chr7 87392622 87392622 + G G C Missense_Mutation SNP ENST00000331536.8 exon15 c.G1482C p.M494I exonic ENSG00000005469.12 . nonsynonymous SNV ENSG00000005469.12:ENST00000331536.8:exon15:c.G1482C:p.M494I 7q21.12 C3N-00511 . . . . . . . . . 19.20 D D D D D D M D D 0.405 D D D 0.739 0.639 0.672 0.211 T D D D D D 3.912 26.400 0.997 D D 0.771 8.246 0.771 9.322 1.000 0.651 0.709 0.659 0.655 . 5.930 5.930 5.933 1.176 0.676 1.000 1.000 1.000 488 Choline/carnitine_acyltransferase_domain . . . CROT 81 0 260 44 0.144736842105263 TRUE TRUE ENSG00000146966.13 . BCM GRCh38.p13 chr7 140601650 140601650 + C C T Missense_Mutation SNP ENST00000496613.6 exon3 c.G748A p.V250M exonic ENSG00000146966.13 . nonsynonymous SNV ENSG00000146966.13:ENST00000496613.6:exon3:c.G748A:p.V250M 7q34 C3N-00511 8.39e-06 0 0 0.0001 0 0 0 0 rs766779073 2.20 D T P B U N L T N 0.108 T T T 0.056 0.132 0.103 0.213 T T T T T T 0.461 6.089 0.936 D N -0.750 0.731 -0.852 0.686 0.999 0.615 0.563 0.659 0.542 . 3.790 0.966 2.391 -0.238 -0.182 0.284 0.000 0.003 664 . . . ID=COSV52050018;OCCURENCE=1(large_intestine),1(lung) DENND2A 69 0 150 31 0.171270718232044 TRUE TRUE ENSG00000132549.18 . BCM GRCh38.p13 chr8 99275083 99275083 + G G C Missense_Mutation SNP ENST00000358544.6 exon19 c.G2653C p.D885H exonic ENSG00000132549.18 . nonsynonymous SNV ENSG00000132549.18:ENST00000358544.6:exon19:c.G2653C:p.D885H 8q22.2 C3N-00511 . . . . . . . . . 9.20 D D D P N D L T N 0.556 T T D 0.252 0.266 0.816 0.188 T T T T D D 3.321 24.200 0.994 D D 0.418 4.454 0.435 4.618 1.000 0.651 0.709 0.602 0.655 . 5.580 5.580 8.955 1.176 0.618 1.000 0.896 0.262 844 . . . ID=COSV62160790;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) VPS13B 122 0 239 44 0.15547703180212 TRUE TRUE ENSG00000079332.15 . BCM GRCh38.p13 chr10 70161066 70161066 + G G A Missense_Mutation SNP ENST00000373241.9 exon4 c.C182T p.S61L exonic ENSG00000079332.15 . nonsynonymous SNV ENSG00000079332.15:ENST00000373241.9:exon4:c.C182T:p.S61L 10q22.1 C3N-00511 . . . . . . . . . 14.20 D T D P D D M T D 0.859 T T D 0.603 0.521 0.859 1.473 D T D D D D 4.682 32 0.999 D D 0.837 9.551 0.832 11.152 1.000 0.719 0.723 0.702 0.714 . 5.280 5.280 9.883 1.176 0.676 1.000 1.000 0.998 308 Small_GTP-binding_protein_domain . . ID=COSV64698139;OCCURENCE=1(lung) SAR1A 112 0 181 43 0.191964285714286 TRUE TRUE ENSG00000120051.15 . BCM GRCh38.p13 chr10 104400879 104400879 + G G A Missense_Mutation SNP ENST00000369704.8 exon13 c.G2015A p.S672N exonic ENSG00000120051.15 . nonsynonymous SNV ENSG00000120051.15:ENST00000369704.8:exon13:c.G2015A:p.S672N 10q25.1 C3N-00511 . . . . . . . . . 3.19 D T B B D N . T N 0.261 T T T 0.063 0.394 0.138 0.039 T T T T T T 1.484 15.640 0.989 D N -0.283 1.657 -0.072 2.128 0.005 0.615 0.610 0.659 0.564 . 5.870 4.960 1.635 1.176 0.676 0.952 0.994 0.870 167 . . . . CFAP58 100 0 232 63 0.213559322033898 TRUE NA ENSG00000154478.4 . BCM GRCh38.p13 chr10 123666778 123666778 + C C T Missense_Mutation SNP ENST00000284674.2 exon1 c.C371T p.A124V exonic ENSG00000154478.4 . nonsynonymous SNV ENSG00000154478.4:ENST00000284674.2:exon1:c.C371T:p.A124V 10q26.13 C3N-00511 4.835e-05 0 0 0 0 8.801e-05 0 0 rs775340633 4.20 T T B B D D N T N 0.207 T T T 0.059 . 0.353 1.032 T T T T T D 2.313 21.600 0.996 D N -0.148 2.028 0.013 2.403 1.000 0.516 0.610 0.504 0.563 . 4.110 4.110 3.189 1.022 0.596 1.000 0.996 0.992 779 GPCR,_rhodopsin-like,_7TM . . . GPR26 217 0 530 135 0.203007518796992 TRUE NA ENSG00000121898.13 . BCM GRCh38.p13 chr10 123746805 123746805 + G G A Missense_Mutation SNP ENST00000241305.4 exon14 c.C2230T p.R744W exonic ENSG00000121898.13 . nonsynonymous SNV ENSG00000121898.13:ENST00000241305.4:exon14:c.C2230T:p.R744W 10q26.13 C3N-00511 3.298e-05 0 8.637e-05 0.0002 0 0 0 6.056e-05 rs762600262 14.20 D D D D N D M D N 0.480 D D D 0.660 . 0.991 0.198 T T D D T T 3.579 25.000 0.998 D D 0.444 4.628 0.389 4.279 0.983 0.653 0.563 0.676 0.564 . 4.980 4.040 2.491 -0.557 -0.691 1.000 0.849 0.951 883 . . . ID=COSV53860503;OCCURENCE=2(stomach) CPXM2 199 0 407 50 0.109409190371991 TRUE TRUE ENSG00000182022.18 . BCM GRCh38.p13 chr10 124044714 124044714 + C C T Missense_Mutation SNP ENST00000435907.6 exon3 c.G752A p.R251H exonic ENSG00000182022.18 . nonsynonymous SNV ENSG00000182022.18:ENST00000435907.6:exon3:c.G752A:p.R251H 10q26.13 C3N-00511 . . . . . . . . . 16.20 D D D D D D M T D 0.981 T T D 0.492 0.568 0.752 1.101 T D D D D D 4.262 29.200 1.000 D D 0.838 9.576 0.828 11.015 1.000 0.563 0.588 0.616 0.636 . 5.650 5.650 7.581 1.026 0.599 1.000 0.999 0.970 844 . . . . CHST15 108 0 361 75 0.172018348623853 TRUE NA ENSG00000006118.14 . BCM GRCh38.p13 chr11 60936464 60936464 + C C T Missense_Mutation SNP ENST00000453848.6 exon11 c.C2629T p.R877C exonic ENSG00000006118.14 . nonsynonymous SNV ENSG00000006118.14:ENST00000453848.6:exon11:c.C2629T:p.R877C 11q12.2 C3N-00511 . . . . . . . . . 12.20 D D D D N D M T D 0.540 T T D 0.148 0.465 0.377 1.103 T T T T D D 4.147 28.200 0.999 D D 0.621 6.139 0.613 6.392 1.000 0.706 0.702 0.644 0.613 . 5.040 5.040 3.748 1.026 0.599 0.999 1.000 0.989 595 Transmembrane_protein_TMEM132,_C-terminal . . ID=COSV50019253;OCCURENCE=2(stomach) TMEM132A 218 0 445 81 0.153992395437262 TRUE TRUE ENSG00000149418.11 . BCM GRCh38.p13 chr11 130196371 130196371 + C C G Missense_Mutation SNP ENST00000278742.6 exon10 c.C1146G p.F382L exonic ENSG00000149418.11 . nonsynonymous SNV ENSG00000149418.11:ENST00000278742.6:exon10:c.C1146G:p.F382L 11q24.3 C3N-00511 . . . . . . . . . 12.20 D T D D N D M T D 0.879 T T D 0.506 0.869 0.556 1.253 T T D D D T 3.346 24.200 0.997 D D 0.421 4.478 0.279 3.600 0.287 0.696 0.634 0.723 0.613 . 4.620 3.710 3.409 0.130 -0.187 1.000 0.282 0.776 788 CUB_domain . . . ST14 308 0 690 295 0.299492385786802 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-00511 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 235 0 370 117 0.240246406570842 TRUE TRUE ENSG00000139629.16 . BCM GRCh38.p13 chr12 51377228 51377228 + C C G Missense_Mutation SNP ENST00000356317.8 exon4 c.G631C p.E211Q exonic ENSG00000139629.16 . nonsynonymous SNV ENSG00000139629.16:ENST00000356317.8:exon4:c.G631C:p.E211Q 12q13.13 C3N-00511 . . . . . . . . . 16.20 D D D D D D H T N 0.957 D D D 0.738 0.776 0.945 0.732 T T D D D D 3.892 26.300 0.998 D D 0.882 10.586 0.772 9.344 1.000 0.707 0.725 0.609 0.714 . 4.540 4.540 7.847 1.026 0.599 1.000 1.000 0.992 236 Glycosyltransferase_2-like . . . GALNT6 180 0 470 111 0.19104991394148 TRUE TRUE ENSG00000123338.13 . BCM GRCh38.p13 chr12 54518699 54518699 + G G A Missense_Mutation SNP ENST00000293373.11 exon14 c.G1387A p.V463I exonic ENSG00000123338.13 . nonsynonymous SNV ENSG00000123338.13:ENST00000293373.11:exon14:c.G1387A:p.V463I 12q13.2 C3N-00511 3.295e-05 0.0004 0 0 0 0 0 0 rs370847426 7.20 T T D D D D L T N 0.708 T T T 0.254 . 0.262 0.998 T T T T T D 3.340 24.200 0.999 D D 0.818 9.140 0.823 10.855 1.000 0.707 0.725 0.547 0.530 . 5.770 5.770 9.953 1.176 0.676 1.000 0.951 0.932 732 . . . . NCKAP1L 270 0 434 101 0.188785046728972 TRUE NA ENSG00000157423.18 . BCM GRCh38.p13 chr16 70964783 70964783 + C C A Missense_Mutation SNP ENST00000393567.7 exon37 c.G5733T p.K1911N exonic ENSG00000157423.18 . nonsynonymous SNV ENSG00000157423.18:ENST00000393567.7:exon37:c.G5733T:p.K1911N 16q22.2 C3N-00511 . . . . . . . . . 3.16 D . . . U N L T D 0.069 T T T 0.033 0.191 0.296 . T T T T D . 0.797 9.358 0.988 N N -0.808 0.644 -0.855 0.681 1.000 0.497 0.563 0.550 0.542 . 4.930 -0.101 -0.090 0.138 0.599 0.000 0.963 0.916 604 . . . . HYDIN 173 0 276 22 0.0738255033557047 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-00511 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 354 0 476 160 0.251572327044025 TRUE TRUE ENSG00000133026.13 . BCM GRCh38.p13 chr17 8521120 8521120 + C C T Missense_Mutation SNP ENST00000269243.8 exon16 c.G2030A p.R677H exonic ENSG00000133026.13 . nonsynonymous SNV ENSG00000133026.13:ENST00000269243.8:exon16:c.G2030A:p.R677H 17p13.1 C3N-00511 . . . . . . . . . 20.20 D D D D D D M D D 0.960 D D D 0.904 0.961 0.987 2.352 D D D D D D 4.234 29.000 1.000 D D 1.156 20.411 1.056 22.784 1.000 0.707 0.659 0.725 0.711 . 5.930 5.930 7.905 1.026 0.599 1.000 1.000 0.993 531 Myosin_head,_motor_domain . . . MYH10 164 0 271 15 0.0524475524475524 TRUE TRUE ENSG00000168961.17 . BCM GRCh38.p13 chr17 27646559 27646559 + C C T Missense_Mutation SNP ENST00000395473.7 exon8 c.C640T p.P214S exonic ENSG00000168961.17 . nonsynonymous SNV ENSG00000168961.17:ENST00000395473.7:exon8:c.C640T:p.P214S 17q11.2 C3N-00511 . . . . . . . . . 2.20 D T B B N N L T D 0.273 T T T 0.023 0.347 0.314 0.423 T T T T T T 0.948 10.970 0.815 N N -0.822 0.624 -0.882 0.645 0.648 0.732 0.702 0.602 0.728 . 4.190 2.190 0.520 -0.303 -0.258 0.003 0.004 0.006 251 . . . . LGALS9 271 0 430 138 0.242957746478873 NA TRUE ENSG00000129353.15 . BCM GRCh38.p13 chr19 10631683 10631683 + A A G Missense_Mutation SNP ENST00000335757.10 exon8 c.A560G p.N187S exonic ENSG00000129353.15 . nonsynonymous SNV ENSG00000129353.15:ENST00000335757.10:exon8:c.A560G:p.N187S 19p13.2 C3N-00511 . . . . . . . . . 8.20 T D B B D D M T N 0.739 T T T 0.122 0.473 0.453 0.813 T T T T D D 2.526 22.500 0.986 D D 0.036 2.642 0.171 3.044 1.000 0.722 0.725 0.702 0.735 . 4.730 4.730 8.348 1.311 0.754 1.000 0.997 0.834 814 . . . . SLC44A2 321 0 731 162 0.181410974244121 TRUE TRUE ENSG00000180884.10 . BCM GRCh38.p13 chr19 34958105 34958105 + G G C Missense_Mutation SNP ENST00000404801.2 exon4 c.C1750G p.H584D exonic ENSG00000180884.10 . nonsynonymous SNV ENSG00000180884.10:ENST00000404801.2:exon4:c.C1750G:p.H584D 19q13.11 C3N-00511 . . . . . . . . . 12.19 D D D P . D N D D 0.711 D D D 0.428 0.775 0.803 0.773 T T D T D T 3.363 24.300 0.990 N D 0.052 2.700 -0.028 2.264 1.000 0.707 0.654 0.725 0.711 . 2.640 2.640 8.396 0.909 0.676 1.000 0.981 0.821 307 Zinc_finger_C2H2-type . . . ZNF792 181 0 354 80 0.184331797235023 TRUE TRUE ENSG00000074219.14 . BCM GRCh38.p13 chr19 49357267 49357267 + G G C Missense_Mutation SNP ENST00000311227.6 exon4 c.C345G p.I115M exonic ENSG00000074219.14 . nonsynonymous SNV ENSG00000074219.14:ENST00000311227.6:exon4:c.C345G:p.I115M 19q13.33 C3N-00511 . . . . . . . . . 9.20 D T D D D D L T N 0.320 T T T 0.179 0.417 0.570 0.765 T D T T D D 2.155 20.500 0.992 D N -0.070 2.270 -0.187 1.817 0.954 0.722 0.578 0.702 0.735 . 5.410 -3.990 -0.102 -0.126 -0.126 0.750 0.998 0.997 774 TEA/ATTS_domain . . . TEAD2 203 0 488 109 0.182579564489112 TRUE TRUE ENSG00000160318.6 . BCM GRCh38.p13 chr19 51367161 51367161 + C C A Missense_Mutation SNP ENST00000291715.5 exon4 c.G485T p.G162V exonic ENSG00000160318.6 . nonsynonymous SNV ENSG00000160318.6:ENST00000291715.5:exon4:c.G485T:p.G162V 19q13.41 C3N-00511 . . . . . . . . . 11.20 D D D D N N N D N 0.398 D D D 0.476 0.481 0.813 1.126 T T D D D T 2.843 23.100 0.993 N N -0.156 2.005 -0.325 1.513 1.000 0.442 0.484 0.522 0.492 . 4.640 1.350 -0.588 1.010 0.529 0.000 0.978 0.993 982 . . . . CLDND2 250 0 515 107 0.172025723472669 TRUE TRUE ENSG00000130726.12 . BCM GRCh38.p13 chr19 58544912 58544912 + C C G Missense_Mutation SNP ENST00000253024.10 exon1 c.C155G p.A52G exonic ENSG00000130726.12 . nonsynonymous SNV ENSG00000130726.12:ENST00000253024.10:exon1:c.C155G:p.A52G 19q13.43 C3N-00511 . . . . . . . . . 3.20 D T B B U N N T N 0.112 T T D 0.122 0.188 0.311 0.634 D T T T T T 1.853 18.130 0.746 N N -1.001 0.403 -1.106 0.370 1.000 0.733 0.522 0.601 0.373 . 1.940 -0.418 0.157 0.892 -0.501 0.000 0.970 0.033 958 . . . . TRIM28 69 0 185 61 0.247967479674797 TRUE TRUE ENSG00000124151.19 . BCM GRCh38.p13 chr20 47627026 47627026 + G G T Missense_Mutation SNP ENST00000371998.8 exon6 c.G382T p.V128L exonic ENSG00000124151.19 . nonsynonymous SNV ENSG00000124151.19:ENST00000371998.8:exon6:c.G382T:p.V128L 20q13.12 C3N-00511 . . . . . . . . . 16.20 D D D D D D L T D 0.751 T T D 0.509 . 0.770 0.543 D D D D D D 3.976 26.800 0.995 D D 0.461 4.749 0.439 4.651 1.000 0.707 0.725 0.659 0.714 . 6.170 5.220 10.003 1.176 0.676 1.000 1.000 1.000 126 PAS_fold;PAS_domain . . . NCOA3 36 0 96 25 0.206611570247934 TRUE TRUE ENSG00000171587.15 . BCM GRCh38.p13 chr21 40369134 40369134 + G G A Missense_Mutation SNP ENST00000400454.6 exon4 c.C620T p.T207M exonic ENSG00000171587.15 . nonsynonymous SNV ENSG00000171587.15:ENST00000400454.6:exon4:c.C620T:p.T207M 21q22.2 C3N-00511 2.492e-05 0.0003 0 0 0 0 0 0 rs747625181 14.20 D D D D D D M T D 0.768 T T D 0.335 0.224 0.617 1.502 D T T T D D 3.610 25.100 0.999 D D 0.804 8.858 0.738 8.530 1.000 0.487 0.574 0.574 0.564 . 6.070 5.190 8.026 0.190 0.676 1.000 0.290 0.875 970 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV68634704;OCCURENCE=1(stomach),1(skin) DSCAM 87 0 213 52 0.19622641509434 TRUE TRUE ENSG00000099904.15 . BCM GRCh38.p13 chr22 20145258 20145258 + G G A Missense_Mutation SNP ENST00000334554.11 exon11 c.G2156A p.S719N exonic ENSG00000099904.15 . nonsynonymous SNV ENSG00000099904.15:ENST00000334554.11:exon11:c.G2156A:p.S719N 22q11.21 C3N-00511 9.046e-06 0 0 0 0 0 0 9.817e-05 rs760087056 5.19 D T P B N D L T N 0.138 T T D 0.226 0.137 0.198 . . T T T T T 2.369 21.900 0.997 D D 0.352 4.060 0.436 4.622 1.000 0.672 0.644 0.723 0.711 . 5.060 5.060 5.183 1.172 0.672 1.000 1.000 0.989 783 . . . . ZDHHC8 44 0 70 4 0.0540540540540541 TRUE NA ENSG00000182798.10 . BCM GRCh38.p13 chrX 16170900 16170900 + G G A Missense_Mutation SNP ENST00000400004.6 exon2 c.G518A p.R173H exonic ENSG00000182798.10 . nonsynonymous SNV ENSG00000182798.10:ENST00000400004.6:exon2:c.G518A:p.R173H Xp22.2 C3N-00511 . . . . . . . . . 0.17 T T . . N N L T N 0.032 T T T 0.018 0.283 0.085 0.259 T T T T T T 0.246 3.657 0.924 N . . . . . 0.958 . . . . . 2.560 -5.070 -0.364 -2.235 -0.712 0.000 0.000 0.000 416 MAGE_homology_domain . . ID=COSV61556834;OCCURENCE=1(stomach) MAGEB17 134 0 268 49 0.154574132492114 TRUE TRUE ENSG00000154447.15 . BCM GRCh38.p13 chr4 169116268 169116268 + C C - Splice_Site SNP NA NA NA NA splicing ENSG00000154447.15 ENST00000284637.14:exon10:c.2139+1G>- . . 4q32.3 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SH3RF1 36 0 92 8 0.08 TRUE TRUE ENSG00000149305.7 . BCM GRCh38.p13 chr11 113931429 113931429 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000149305.7 ENST00000260191.7:exon3:c.258+1G>C . . 11q23.2 C3N-00511 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.161 33 0.991 D . 1.088 17.014 0.916 14.447 1.000 0.054 0.063 0.060 0.057 0.980 5.650 5.650 7.965 1.176 0.676 1.000 0.957 0.764 874 . . . . HTR3B 47 0 127 17 0.118055555555556 TRUE TRUE ENSG00000140598.15 . BCM GRCh38.p13 chr15 82229033 82229033 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000140598.15 ENST00000268206.12:exon9:c.932+1G>C . . 15q25.2 C3N-00511 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.233 29.000 0.995 D . 0.997 13.820 0.798 10.055 1.000 0.164 0.156 0.121 0.243 0.972 3.950 3.950 6.404 1.026 0.548 1.000 0.998 0.945 890 . . . . EFL1 20 0 80 15 0.157894736842105 NA TRUE ENSG00000176092.15 . BCM GRCh38.p13 chr1 26337627 26337627 + C C A Silent SNP ENST00000308182.9 exon9 c.G3555T p.V1185V exonic ENSG00000176092.15 . synonymous SNV ENSG00000176092.15:ENST00000308182.9:exon9:c.G3555T:p.V1185V 1p36.11 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRYBG2 142 1 381 58 0.132118451025057 TRUE TRUE ENSG00000198198.17 . BCM GRCh38.p13 chr1 43441588 43441588 + T T C Silent SNP ENST00000634258.3 exon54 c.T7596C p.F2532F exonic ENSG00000198198.17 . synonymous SNV ENSG00000198198.17:ENST00000634258.3:exon54:c.T7596C:p.F2532F 1p34.2 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SZT2 131 0 240 45 0.157894736842105 TRUE TRUE ENSG00000153823.18 . BCM GRCh38.p13 chr2 229025845 229025845 + G G A Silent SNP ENST00000354069.6 exon3 c.C540T p.F180F exonic ENSG00000153823.18 . synonymous SNV ENSG00000153823.18:ENST00000354069.6:exon3:c.C540T:p.F180F 2q36.3 C3N-00511 8.237e-06 0 0 0 0 0 0 6.056e-05 rs749402709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62472386;OCCURENCE=2(large_intestine),4(pancreas),3(skin) PID1 394 0 754 183 0.195304162219851 TRUE TRUE ENSG00000213413.2 . BCM GRCh38.p13 chr7 100221044 100221044 + G G A Silent SNP ENST00000317271.2 exon6 c.G774A p.A258A exonic ENSG00000213413.2 . synonymous SNV ENSG00000213413.2:ENST00000317271.2:exon6:c.G774A:p.A258A 7q22.1 C3N-00511 1.664e-05 0 0 0 0 1.508e-05 0 6.26e-05 rs556053924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52782082;OCCURENCE=1(biliary_tract) PVRIG 62 0 166 51 0.235023041474654 NA TRUE ENSG00000168484.12 . BCM GRCh38.p13 chr8 22162672 22162672 + C C T Silent SNP ENST00000318561.7 exon2 c.C141T p.V47V exonic ENSG00000168484.12 . synonymous SNV ENSG00000168484.12:ENST00000318561.7:exon2:c.C141T:p.V47V 8p21.3 C3N-00511 8.281e-06 0 0 0 0 1.499e-05 0 0 rs764818190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SFTPC 505 0 1078 258 0.19311377245509 TRUE NA ENSG00000107951.14 . BCM GRCh38.p13 chr10 30313843 30313843 + A A G Silent SNP ENST00000263063.8 exon9 c.T1515C p.S505S exonic ENSG00000107951.14 . synonymous SNV ENSG00000107951.14:ENST00000263063.8:exon9:c.T1515C:p.S505S 10p11.23 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTPAP 322 0 1770 142 0.0742677824267782 TRUE TRUE ENSG00000064309.14 . BCM GRCh38.p13 chr11 126005885 126005885 + A A T Silent SNP ENST00000392693.7 exon9 c.T1725A p.S575S exonic ENSG00000064309.14 . synonymous SNV ENSG00000064309.14:ENST00000392693.7:exon9:c.T1725A:p.S575S 11q24.2 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDON 284 0 672 167 0.199046483909416 TRUE TRUE ENSG00000170486.11 . BCM GRCh38.p13 chr12 52587801 52587801 + G G A Silent SNP ENST00000293745.7 exon7 c.C1140T p.C380C exonic ENSG00000170486.11 . synonymous SNV ENSG00000170486.11:ENST00000293745.7:exon7:c.C1140T:p.C380C 12q13.13 C3N-00511 1.651e-05 0 8.658e-05 0.0001 0 0 0 0 rs199978375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53373473;OCCURENCE=1(breast),1(stomach) KRT72 191 1 429 115 0.211397058823529 TRUE TRUE ENSG00000120658.13 . BCM GRCh38.p13 chr13 43355953 43355953 + C C T Silent SNP ENST00000261488.10 exon8 c.G789A p.E263E exonic ENSG00000120658.13 . synonymous SNV ENSG00000120658.13:ENST00000261488.10:exon8:c.G789A:p.E263E 13q14.11 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54921473;OCCURENCE=1(liver) ENOX1 109 0 245 63 0.204545454545455 TRUE TRUE ENSG00000124467.19 . BCM GRCh38.p13 chr19 42763916 42763916 + G G A Silent SNP ENST00000306511.5 exon2 c.C430T p.L144L exonic ENSG00000124467.19 . synonymous SNV ENSG00000124467.19:ENST00000306511.5:exon2:c.C430T:p.L144L 19q13.2 C3N-00511 . . . . . . . . . 2.16 T T B B . D . T D 0.077 T T T 0.036 0.642 0.014 . . . T T T T -0.673 0.050 0.533 N N -0.662 0.877 -0.949 0.555 0.002 0.428 0.547 0.547 0.613 . 1.350 0.266 -3.080 -1.225 -4.116 0.000 0.000 0.000 410 . . . ID=COSV60610769;OCCURENCE=1(large_intestine),2(skin),1(lung) PSG8 110 0 194 66 0.253846153846154 NA TRUE ENSG00000063169.10 . BCM GRCh38.p13 chr19 47680901 47680901 + G G A Silent SNP ENST00000396720.7 exon6 c.G1731A p.P577P exonic ENSG00000063169.10 . synonymous SNV ENSG00000063169.10:ENST00000396720.7:exon6:c.G1731A:p.P577P 19q13.33 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BICRA 54 0 138 37 0.211428571428571 TRUE NA ENSG00000197951.9 . BCM GRCh38.p13 chr19 56622481 56622481 + C C T Silent SNP ENST00000328070.10 exon3 c.C1194T p.I398I exonic ENSG00000197951.9 . synonymous SNV ENSG00000197951.9:ENST00000328070.10:exon3:c.C1194T:p.I398I 19q13.43 C3N-00511 . . . . . . . . rs1051755100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60148032;OCCURENCE=1(skin) ZNF71 191 0 514 117 0.185419968304279 TRUE TRUE ENSG00000101400.6 . BCM GRCh38.p13 chr20 33412707 33412707 + C C T Silent SNP ENST00000217381.3 exon4 c.G777A p.S259S exonic ENSG00000101400.6 . synonymous SNV ENSG00000101400.6:ENST00000217381.3:exon4:c.G777A:p.S259S 20q11.21 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNTA1 529 0 1087 280 0.204828090709583 TRUE NA ENSG00000004961.15 . BCM GRCh38.p13 chrX 11121657 11121657 + C C T Silent SNP ENST00000380762.5 exon7 c.C654T p.C218C exonic ENSG00000004961.15 . synonymous SNV ENSG00000004961.15:ENST00000380762.5:exon7:c.C654T:p.C218C Xp22.2 C3N-00511 6.84e-05 0 0.0002 0.0002 0 4.168e-05 0 9.89e-05 rs775880525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58239116;OCCURENCE=1(biliary_tract) HCCS 287 0 488 117 0.193388429752066 TRUE TRUE ENSG00000001497.16 . BCM GRCh38.p13 chrX 65524096 65524096 + G G A Silent SNP ENST00000374811.7 exon10 c.C1260T p.L420L exonic ENSG00000001497.16 . synonymous SNV ENSG00000001497.16:ENST00000374811.7:exon10:c.C1260T:p.L420L Xq12 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LAS1L 299 0 614 136 0.181333333333333 TRUE TRUE ENSG00000127603.29 . BCM GRCh38.p13 chr1 39269435 39269435 + A A G Intron SNP NA NA NA NA intronic ENSG00000127603.29 . . . 1p34.3 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MACF1 283 0 604 141 0.189261744966443 TRUE NA ENSG00000050767.17 . BCM GRCh38.p13 chr5 178255788 178255788 + T T C Intron SNP NA NA NA NA intronic ENSG00000050767.17 . . . 5q35.3 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL23A1 17 0 49 3 0.0576923076923077 TRUE NA ENSG00000260537.2 . BCM GRCh38.p13 chr16 70346901 70346901 + G G T Intron SNP NA NA NA NA intronic ENSG00000260537.2 . . . 16q22.1 C3N-00511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC012184.2 49 0 87 38 0.304 TRUE NA ENSG00000174175.17 . BCM GRCh38.p13 chr1 169613033 169613033 + G G A Missense_Mutation SNP ENST00000263686.11 exon5 c.C671T p.S224L exonic ENSG00000174175.17 . nonsynonymous SNV ENSG00000174175.17:ENST00000263686.11:exon5:c.C671T:p.S224L 1q24.2 C3N-03190 6.603e-05 0 8.673e-05 0 0.0003 7.5e-05 0 0 rs767813249 14.17 D D . . D D . T D 0.771 D D D 0.620 . 0.902 0.341 T T D D D D 4.285 29.400 0.999 D D 1.024 14.691 0.944 15.781 1.000 0.615 0.547 0.574 0.655 . 5.980 5.980 7.013 1.176 0.676 1.000 0.922 0.833 775 Sushi/SCR/CCP_domain . . ID=COSV55253485;OCCURENCE=1(stomach) SELP 147 0 282 57 0.168141592920354 TRUE TRUE ENSG00000179930.6 . BCM GRCh38.p13 chr1 182056629 182056629 + G G A Missense_Mutation SNP ENST00000339948.3 exon2 c.C1382T p.S461L exonic ENSG00000179930.6 . nonsynonymous SNV ENSG00000179930.6:ENST00000339948.3:exon2:c.C1382T:p.S461L 1q25.3 C3N-03190 . . . . . . . . . 8.19 D D P B . D M T D 0.101 T T T 0.100 0.490 0.169 1.119 D T T T D D 2.877 23.200 0.998 N N -0.092 2.199 -0.165 1.871 0.211 0.487 0.563 0.616 0.564 . 2.770 1.850 1.323 1.176 0.676 0.014 1.000 0.998 910 Zinc_finger_C2H2-type . . . ZNF648 444 0 941 88 0.0855199222546161 TRUE NA ENSG00000068781.21 . BCM GRCh38.p13 chr2 48646534 48646534 + A A C Missense_Mutation SNP ENST00000403751.8 exon6 c.A470C p.Q157P exonic ENSG00000068781.21;ENSG00000242441.8 . nonsynonymous SNV ENSG00000242441.8:ENST00000403751.8:exon6:c.A470C:p.Q157P,ENSG00000068781.21:ENST00000394754.5:exon8:c.A2582C:p.Q861P 2p16.3 C3N-03190 8.241e-06 9.625e-05 0 0 0 0 0 0 rs139159145 4.20 T T P B N N M T D 0.367 T T T 0.195 . 0.365 0.007 T T T T D T 2.144 20.400 0.968 D N -0.077 2.248 -0.028 2.264 0.000 0.554 0.588 0.574 0.564 . 5.820 3.240 1.529 1.312 0.691 0.993 0.886 0.389 534 . . . . STON1-GTF2A1L 158 0 391 24 0.0578313253012048 TRUE NA ENSG00000188738.15 . BCM GRCh38.p13 chr2 185804071 185804071 + C C G Missense_Mutation SNP ENST00000424728.6 exon17 c.C14765G p.A4922G exonic ENSG00000188738.15 . nonsynonymous SNV ENSG00000188738.15:ENST00000424728.6:exon17:c.C14765G:p.A4922G 2q32.1 C3N-03190 . . . . . . . . . 0.16 T T . . . N L T N 0.092 T T T 0.020 . 0.234 . T T T T T T 0.359 4.961 0.619 N . -0.740 0.747 -0.800 0.758 0.000 0.554 0.588 0.574 0.621 . 5.450 2.630 -0.211 -0.268 -0.964 0.000 0.077 0.225 735 Fibrous_sheath-interacting_protein_2,_C-terminal . . . FSIP2 49 0 131 15 0.102739726027397 TRUE TRUE ENSG00000188582.10 . BCM GRCh38.p13 chr3 142962715 142962715 + C C T Missense_Mutation SNP ENST00000340634.6 exon1 c.G622A p.A208T exonic ENSG00000188582.10 . nonsynonymous SNV ENSG00000188582.10:ENST00000340634.6:exon1:c.G622A:p.A208T 3q23 C3N-03190 . . . . . . . . . 0.19 T T P B N N L T N 0.069 T T T 0.069 0.588 0.103 1.512 T T T T T T 1.473 15.570 0.990 N . -0.205 1.864 -0.147 1.918 1.000 0.652 0.563 0.641 0.639 . 4.900 4.900 0.304 1.026 0.599 0.000 0.989 0.965 917 . . . ID=COSV61417597;OCCURENCE=1(breast),1(oesophagus),2(large_intestine),1(stomach),1(endometrium) PAQR9 320 0 725 118 0.139976275207592 TRUE TRUE ENSG00000231925.12 . BCM GRCh38.p13 chr6 33313312 33313312 + A A G Missense_Mutation SNP ENST00000434618.7 exon3 c.T374C p.M125T exonic ENSG00000231925.12 . nonsynonymous SNV ENSG00000231925.12:ENST00000434618.7:exon3:c.T374C:p.M125T 6p21.32 C3N-03190 . . . . . . . . . 3.19 T D P B N D . T N 0.416 T T T 0.112 0.524 0.415 0.404 T T T T T T 2.062 19.730 0.893 D N 0.042 2.666 0.111 2.780 1.000 0.442 0.522 0.522 0.562 . 4.300 4.300 1.890 1.301 0.743 0.986 0.989 0.998 632 . . . . TAPBP 258 0 555 74 0.117647058823529 TRUE TRUE ENSG00000188107.15 . BCM GRCh38.p13 chr6 65495077 65495077 + C C T Missense_Mutation SNP ENST00000370621.7 exon4 c.G334A p.V112I exonic ENSG00000188107.15 . nonsynonymous SNV ENSG00000188107.15:ENST00000370621.7:exon4:c.G334A:p.V112I 6q12 C3N-03190 0.0086 0.0012 0.0048 0.0005 0.0002 0.0065 0.0110 0.0323 rs112609906 1.18 T T B B . N N D N 0.055 T T . 0.191 . 0.236 0.010 T T T T T T 0.261 3.838 0.482 N N -0.778 0.687 -0.610 1.030 0.000 0.487 0.574 0.574 0.564 . 4.700 0.626 1.444 0.203 -0.172 1.000 0.708 0.587 916 . . . ID=COSV60995573;OCCURENCE=1(thyroid) EYS 180 0 318 69 0.178294573643411 TRUE NA ENSG00000049540.17 . BCM GRCh38.p13 chr7 74059903 74059903 + G G T Missense_Mutation SNP ENST00000358929.8 exon24 c.G1519T p.G507C exonic ENSG00000049540.17 . nonsynonymous SNV ENSG00000049540.17:ENST00000358929.8:exon24:c.G1519T:p.G507C 7q11.23 C3N-03190 . . . . . . . . . 12.19 D D D D . D L T D 0.821 T T D 0.285 0.376 0.713 0.195 T D D D D T 3.548 24.900 0.973 D N 0.199 3.300 0.038 2.496 1.000 0.646 0.590 0.645 0.563 . 3.710 2.810 3.546 0.811 0.672 0.892 0.002 0.001 917 . . . . ELN 669 1 1414 246 0.148192771084337 TRUE TRUE ENSG00000181638.20 . BCM GRCh38.p13 chr8 143250081 143250081 + C C A Missense_Mutation SNP ENST00000330701.7 exon2 c.C238A p.P80T exonic ENSG00000181638.20;ENSG00000264668.2 . nonsynonymous SNV ENSG00000181638.20:ENST00000330701.7:exon2:c.C238A:p.P80T,ENSG00000264668.2:ENST00000522452.2:exon2:c.C238A:p.P80T 8q24.3 C3N-03190 . . . . . . . . . 0.12 . T . . . N . . . 0.199 T T T 0.086 . 0.165 0.110 T . T T T T 1.915 18.600 0.863 N N -0.321 1.563 -0.420 1.337 0.999 0.651 0.588 0.645 0.684 . 2.820 2.820 2.526 0.074 -0.239 0.017 0.987 0.993 982 . . . . ZFP41 249 0 673 91 0.119109947643979 TRUE TRUE ENSG00000110169.11 . BCM GRCh38.p13 chr11 6440523 6440523 + - NA CAT In_Frame_Ins INS ENST00000265983.8 exon3 c.157_158insATG p.D52_G53insD exonic ENSG00000110169.11 . nonframeshift insertion ENSG00000110169.11:ENST00000265983.8:exon3:c.157_158insATG:p.D52_G53insD 11p15.4 C3N-03190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HPX NA NA NA NA NA NA NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-03190 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 285 0 684 212 0.236607142857143 TRUE TRUE ENSG00000139117.14 . BCM GRCh38.p13 chr12 38839939 38839939 + T T C Missense_Mutation SNP ENST00000331366.10 exon5 c.A307G p.K103E exonic ENSG00000139117.14 . nonsynonymous SNV ENSG00000139117.14:ENST00000331366.10:exon5:c.A307G:p.K103E 12q12 C3N-03190 . . . . . . . . . 8.20 T T B B D D L T N 0.553 T T D 0.228 0.441 0.714 0.831 D T T T D D 2.824 23.100 0.997 D D 0.151 3.094 0.237 3.370 0.783 0.706 0.709 0.602 0.613 . 4.380 4.380 5.683 1.138 0.665 1.000 1.000 0.998 819 C2_domain . . . CPNE8 84 0 235 35 0.12962962962963 TRUE TRUE ENSG00000139219.19 . BCM GRCh38.p13 chr12 47985811 47985811 + G G A Nonsense_Mutation SNP ENST00000380518.8 exon25 c.C1597T p.R533X exonic ENSG00000139219.19 . stopgain ENSG00000139219.19:ENST00000380518.8:exon25:c.C1597T:p.R533X 12q13.11 C3N-03190 . . . . . . . . rs1085307608 5.6 . . . . D A . . . 0.952 . . . . . . . . . D D . . 8.491 43 0.998 D N 0.912 11.373 0.790 9.825 1.000 0.615 0.627 0.659 0.564 . 5.480 4.580 8.047 1.176 0.676 1.000 1.000 0.980 612 . . . . COL2A1 383 0 799 151 0.158947368421053 TRUE NA ENSG00000172867.4 . BCM GRCh38.p13 chr12 52651890 52651890 + C C T Missense_Mutation SNP ENST00000309680.4 exon1 c.G253A p.A85T exonic ENSG00000172867.4 . nonsynonymous SNV ENSG00000172867.4:ENST00000309680.4:exon1:c.G253A:p.A85T 12q13.13 C3N-03190 5.686e-05 0 0 0 0 6.98e-05 0 0.0001 rs747178935 2.19 T T B B . N N D N 0.222 T T D 0.183 0.372 0.400 0.083 T T T T T T -0.301 0.310 0.774 N N -1.516 0.076 -1.551 0.090 0.001 0.497 0.563 0.547 0.542 . 5.270 -3.300 0.065 -0.631 -0.778 0.000 0.002 0.065 761 Keratin_type_II_head . . ID=COSV59011400;OCCURENCE=1(liver) KRT2 143 0 387 59 0.132286995515695 TRUE TRUE ENSG00000139291.14 . BCM GRCh38.p13 chr12 71689613 71689613 + G G A Missense_Mutation SNP ENST00000548802.1 exon2 c.G218A p.R73H exonic ENSG00000139291.14;ENSG00000258064.1 . nonsynonymous SNV ENSG00000258064.1:ENST00000548802.1:exon2:c.G218A:p.R73H 12q21.1 C3N-03190 4.942e-05 9.612e-05 8.637e-05 0 0 1.498e-05 0 0.0002 rs146789654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57000898;OCCURENCE=1(large_intestine) TMEM19 264 1 625 108 0.147339699863574 TRUE TRUE ENSG00000187676.8 . BCM GRCh38.p13 chr13 31247095 31247095 + C C T Missense_Mutation SNP ENST00000343307.5 exon5 c.C343T p.P115S exonic ENSG00000187676.8 . nonsynonymous SNV ENSG00000187676.8:ENST00000343307.5:exon5:c.C343T:p.P115S 13q12.3 C3N-03190 . . . . . . . . . 9.20 D T P P D D M T D 0.429 T T D 0.515 0.652 0.807 0.727 T T T T D D 3.388 24.400 0.999 D N 0.540 5.360 0.518 5.327 0.940 0.638 0.588 0.653 0.655 . 5.610 5.610 3.206 1.026 0.549 0.995 0.054 0.954 900 . . . . B3GLCT 365 0 724 118 0.140142517814727 TRUE TRUE ENSG00000178115.11 . BCM GRCh38.p13 chr15 30562202 30562202 + C C T Missense_Mutation SNP ENST00000562783.1 exon18 c.C1685T p.P562L exonic ENSG00000178115.11 . nonsynonymous SNV ENSG00000178115.11:ENST00000562783.1:exon18:c.C1685T:p.P562L 15q13.2 C3N-03190 . . . . . . . . . 4.10 D D . . . . . T D 0.056 . . T . . 0.248 0.973 . . T T . D 2.139 20.400 0.991 N N . . . . 0.000 0.554 0.588 0.618 0.621 . 0.861 0.861 0.041 0.661 0.255 0.002 0.006 0.024 976 . . . . GOLGA8Q 382 0 892 76 0.0785123966942149 NA TRUE ENSG00000242866.10 . BCM GRCh38.p13 chr15 43600080 43600080 + T T C Missense_Mutation SNP ENST00000450892.7 exon28 c.A5119G p.S1707G exonic ENSG00000242866.10 . nonsynonymous SNV ENSG00000242866.10:ENST00000450892.7:exon28:c.A5119G:p.S1707G 15q15.3 C3N-03190 . . . . . . . . . 3.19 T T B B N D . T N 0.249 T T D 0.121 0.272 0.614 . T T T T T T 2.150 20.500 0.990 D N -0.491 1.194 -0.320 1.524 0.000 0.554 0.588 0.670 0.542 . 4.810 2.480 1.113 1.125 0.607 0.576 0.998 0.988 10 . . . . STRC 449 1 999 77 0.0715613382899628 NA TRUE ENSG00000007545.16 . BCM GRCh38.p13 chr16 1656939 1656939 + C C T Missense_Mutation SNP ENST00000397412.8 exon10 c.C2182T p.R728C exonic ENSG00000007545.16 . nonsynonymous SNV ENSG00000007545.16:ENST00000397412.8:exon10:c.C2182T:p.R728C 16p13.3 C3N-03190 . . . . . . . . rs868557344 13.19 D D D D D D L . D 0.659 T T D 0.311 . 0.143 1.064 T D T T D D 3.936 26.600 0.999 D D 0.608 6.009 0.548 5.629 0.845 0.635 0.577 0.644 0.636 . 4.430 4.430 2.253 1.026 0.599 1.000 0.984 0.911 557 . . . . CRAMP1 41 0 78 17 0.178947368421053 TRUE NA ENSG00000087245.13 . BCM GRCh38.p13 chr16 55488716 55488716 + G G A Missense_Mutation SNP ENST00000219070.9 exon6 c.G1006A p.A336T exonic ENSG00000087245.13 . nonsynonymous SNV ENSG00000087245.13:ENST00000219070.9:exon6:c.G1006A:p.A336T 16q12.2 C3N-03190 . . . . . . . . rs1019194457 9.20 T T D D D D L T N 0.635 T T D 0.234 0.244 0.425 1.028 T T T T D D 5.763 34 0.998 D D 0.581 5.737 0.593 6.138 1.000 0.722 0.574 0.710 0.735 . 4.770 4.770 9.951 1.101 0.590 1.000 0.972 0.309 925 Peptidase,_metallopeptidase;Peptidase_M10A,_catalytic_domain;Peptidase_M10,_metallopeptidase . . ID=COSV54605586;OCCURENCE=1(large_intestine) MMP2 462 1 1032 138 0.117948717948718 TRUE TRUE ENSG00000182885.17 . BCM GRCh38.p13 chr16 57683939 57683939 + C C T Missense_Mutation SNP ENST00000333493.9 exon9 c.C889T p.R297W exonic ENSG00000182885.17 . nonsynonymous SNV ENSG00000182885.17:ENST00000333493.9:exon9:c.C889T:p.R297W 16q21 C3N-03190 2.726e-05 0 0 0.0001 0 3.137e-05 0 0 rs755883919 0.19 T T B B N N . T N 0.148 T T T 0.032 0.650 0.081 0.152 T T T T T T 0.839 9.792 0.873 N N -1.194 0.232 -1.189 0.292 0.997 0.554 0.547 0.602 0.564 . 4.990 -1.440 -0.290 -0.765 -1.024 0.000 0.009 0.198 900 GPCR,_family_2-like . . ID=COSV59649953;OCCURENCE=1(prostate) ADGRG3 29 0 74 4 0.0512820512820513 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7676040 7676040 + C C A Missense_Mutation SNP ENST00000269305.8 exon4 c.G329T p.R110L exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon4:c.G329T:p.R110L 17p13.1 C3N-03190 1.655e-05 0 0 0 0 1.507e-05 0 6.062e-05 rs11540654 13.20 D D P P N N M D D 0.834 D D D 0.632 0.837 0.982 1.738 T D D D D D 1.791 17.670 0.996 N N -0.428 1.322 -0.558 1.110 0.473 0.722 0.702 0.699 0.735 . 4.750 -0.964 0.604 0.138 0.599 0.142 0.811 0.981 434 p53,_DNA-binding_domain . . ID=COSV52662399;OCCURENCE=2(breast),5(liver),1(genital_tract),7(oesophagus),4(large_intestine),1(central_nervous_system),2(ovary),4(haematopoietic_and_lymphoid_tissue),4(stomach),2(soft_tissue),5(urinary_tract),2(pancreas),2(prostate),14(lung),1(thyroid),12(upper_aerodigestive_tract) TP53 172 0 306 65 0.175202156334232 TRUE TRUE ENSG00000173821.19 . BCM GRCh38.p13 chr17 80369827 80369827 + G G T Missense_Mutation SNP ENST00000508628.6 exon47 c.G12532T p.V4178F exonic ENSG00000173821.19 . nonsynonymous SNV ENSG00000173821.19:ENST00000508628.6:exon47:c.G12532T:p.V4178F 17q25.3 C3N-03190 . . . . . . . . . 8.17 D D . . D N . T D 0.500 T T D 0.280 . 0.517 0.722 T T T T D D 3.658 25.200 0.997 D N 0.471 4.816 0.386 4.262 0.011 0.707 0.725 0.725 0.714 . 5.150 3.160 3.050 1.176 0.676 1.000 0.989 0.995 873 . . . . RNF213 465 0 974 176 0.15304347826087 TRUE TRUE ENSG00000124098.10 . BCM GRCh38.p13 chr20 56359006 56359006 + A A G Translation_Start_Site SNP ENST00000371384.4 exon1 c.A1G p.M1? exonic ENSG00000124098.10 . startloss ENSG00000124098.10:ENST00000371384.4:exon1:c.A1G:p.M1? 20q13.2 C3N-03190 0 0 0 0 . 0 0 0 rs531290851 8.18 D D B B N D . T N 0.811 T T D 0.224 0.957 0.171 . . T D D D D 1.926 18.690 0.697 N N -0.629 0.936 -0.677 0.933 1.000 0.652 0.552 0.641 0.250 . 3.480 1.080 1.865 1.064 0.649 0.892 0.120 0.055 988 . . . . FAM210B 153 0 365 60 0.141176470588235 TRUE NA ENSG00000175600.15 . BCM GRCh38.p13 chr7 40449286 40449286 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000175600.15 ENST00000335693.8:exon10:c.838-1G>A . . 7p14.1 C3N-03190 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.135 35 0.995 D . 1.121 18.476 0.968 17.031 0.740 0.078 0.063 0.084 0.057 0.975 5.460 5.460 6.040 1.172 0.672 1.000 1.000 0.998 814 . . . . SUGCT 141 0 298 44 0.128654970760234 TRUE TRUE ENSG00000092621.12 . BCM GRCh38.p13 chr1 119737179 119737179 + C C T Silent SNP ENST00000641597.1 exon11 c.C858T p.A286A exonic ENSG00000092621.12 . synonymous SNV ENSG00000092621.12:ENST00000641597.1:exon11:c.C858T:p.A286A 1p12 C3N-03190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHGDH 415 0 890 172 0.16195856873823 TRUE TRUE ENSG00000186487.20 . BCM GRCh38.p13 chr2 1922872 1922872 + G G A Silent SNP ENST00000647738.2 exon10 c.C897T p.Y299Y exonic ENSG00000186487.20 . synonymous SNV ENSG00000186487.20:ENST00000647738.2:exon10:c.C897T:p.Y299Y 2p25.3 C3N-03190 1.656e-05 0 0 0 0 2.997e-05 0 0 rs377285450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67706951;OCCURENCE=1(large_intestine),1(kidney) MYT1L 297 1 716 90 0.11166253101737 TRUE TRUE ENSG00000120708.17 . BCM GRCh38.p13 chr5 136055715 136055715 + C C T Silent SNP ENST00000442011.7 exon11 c.C1446T p.H482H exonic ENSG00000120708.17 . synonymous SNV ENSG00000120708.17:ENST00000442011.7:exon11:c.C1446T:p.H482H 5q31.1 C3N-03190 8.544e-06 0 0 0 0 1.534e-05 0 0 rs766764647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100526616;OCCURENCE=1(endometrium) TGFBI 112 0 234 26 0.1 TRUE NA ENSG00000113763.12 . BCM GRCh38.p13 chr5 176868939 176868939 + C C T Silent SNP ENST00000329542.9 exon5 c.C696T p.S232S exonic ENSG00000113763.12 . synonymous SNV ENSG00000113763.12:ENST00000329542.9:exon5:c.C696T:p.S232S 5q35.2 C3N-03190 8.673e-05 0 0 0.0011 0 1.574e-05 0 0 rs553124719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56173144;OCCURENCE=1(large_intestine) UNC5A 76 0 177 40 0.184331797235023 TRUE TRUE ENSG00000124493.14 . BCM GRCh38.p13 chr6 34133140 34133140 + C C T Silent SNP ENST00000538487.7 exon2 c.G357A p.S119S exonic ENSG00000124493.14 . synonymous SNV ENSG00000124493.14:ENST00000538487.7:exon2:c.G357A:p.S119S 6p21.31 C3N-03190 0.0001 0.0003 0 0 0 0.0002 0 6.124e-05 rs374197166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65214119;OCCURENCE=1(large_intestine),1(urinary_tract) GRM4 241 0 478 78 0.140287769784173 TRUE TRUE ENSG00000257923.11 . BCM GRCh38.p13 chr7 101916132 101916132 + C C T Silent SNP ENST00000292535.12 exon2 c.C48T p.T16T exonic ENSG00000257923.11 . synonymous SNV ENSG00000257923.11:ENST00000292535.12:exon2:c.C48T:p.T16T 7q22.1 C3N-03190 3.295e-05 9.61e-05 8.637e-05 0 0 2.997e-05 0 0 rs376836450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99472298;OCCURENCE=1(stomach) CUX1 160 0 415 24 0.0546697038724374 TRUE NA ENSG00000117868.17 . BCM GRCh38.p13 chr7 158737143 158737143 + G G A Silent SNP ENST00000275418.13 exon20 c.C2304T p.P768P exonic ENSG00000117868.17 . synonymous SNV ENSG00000117868.17:ENST00000275418.13:exon20:c.C2304T:p.P768P 7q36.3 C3N-03190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ESYT2 220 0 465 78 0.143646408839779 TRUE TRUE ENSG00000111676.15 . BCM GRCh38.p13 chr12 6935837 6935837 + A A T Silent SNP ENST00000396684.3 exon5 c.A570T p.T190T exonic ENSG00000111676.15 . synonymous SNV ENSG00000111676.15:ENST00000396684.3:exon5:c.A570T:p.T190T 12p13.31 C3N-03190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATN1 167 1 352 57 0.139364303178484 TRUE TRUE ENSG00000058335.15 . BCM GRCh38.p13 chr15 79046805 79046805 + G G A Silent SNP ENST00000419573.7 exon5 c.C819T p.A273A exonic ENSG00000058335.15 . synonymous SNV ENSG00000058335.15:ENST00000419573.7:exon5:c.C819T:p.A273A 15q25.1 C3N-03190 . . . . . . . . rs752778899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV69176752;OCCURENCE=2(liver),1(skin),1(endometrium) RASGRF1 348 1 784 62 0.0732860520094563 TRUE TRUE ENSG00000099364.16 . BCM GRCh38.p13 chr16 30946863 30946863 + C C T Silent SNP ENST00000380310.6 exon10 c.C1821T p.C607C exonic ENSG00000099364.16 . synonymous SNV ENSG00000099364.16:ENST00000380310.6:exon10:c.C1821T:p.C607C 16p11.2 C3N-03190 1.896e-05 0 0 0 0 0 0 0.0001 rs749247594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXL19 356 0 658 160 0.19559902200489 TRUE NA ENSG00000103154.9 . BCM GRCh38.p13 chr16 83972165 83972165 + G G T Silent SNP ENST00000305202.8 exon2 c.G216T p.A72A exonic ENSG00000103154.9 . synonymous SNV ENSG00000103154.9:ENST00000305202.8:exon2:c.G216T:p.A72A 16q23.3 C3N-03190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100534054;OCCURENCE=1(skin) NECAB2 347 0 807 154 0.160249739854318 TRUE TRUE ENSG00000160994.4 . BCM GRCh38.p13 chr19 15011269 15011269 + C C T Silent SNP ENST00000292574.4 exon1 c.C444T p.N148N exonic ENSG00000160994.4 . synonymous SNV ENSG00000160994.4:ENST00000292574.4:exon1:c.C444T:p.N148N 19p13.12 C3N-03190 . . . . . . . . rs537607141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC105 120 0 248 41 0.141868512110727 TRUE NA ENSG00000198300.14 . BCM GRCh38.p13 chr19 56815217 56815217 + G G A Silent SNP ENST00000326441.15 exon10 c.C3225T p.S1075S exonic ENSG00000198300.14 . synonymous SNV ENSG00000198300.14:ENST00000326441.15:exon10:c.C3225T:p.S1075S 19q13.43 C3N-03190 5.771e-05 0.0003 0.0002 0.0001 0 0 0 6.08e-05 rs146308462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99688733;OCCURENCE=1(stomach) PEG3 92 0 203 14 0.0645161290322581 TRUE NA ENSG00000198959.12 . BCM GRCh38.p13 chr20 38132602 38132602 + G G T Intron SNP NA NA NA NA intronic ENSG00000198959.12 . . . 20q11.23 C3N-03190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TGM2 105 0 182 11 0.0569948186528497 TRUE NA ENSG00000179253.3 . BCM GRCh38.p13 chr20 61718976 61718976 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000179253.3 . . . 20q13.33 C3N-03190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL162457.1 231 0 483 110 0.185497470489039 TRUE NA ENSG00000162728.5 . BCM GRCh38.p13 chr1 160084469 160084469 + T T G Missense_Mutation SNP ENST00000368088.4 exon2 c.T439G p.S147A exonic ENSG00000162728.5 . nonsynonymous SNV ENSG00000162728.5:ENST00000368088.4:exon2:c.T439G:p.S147A 1q23.2 C3N-00516 . . . . . . . . . 15.20 T T P P D D M D D 0.644 D D D 0.771 0.602 0.835 . T D D D D D 3.501 24.700 0.985 D D 0.486 4.931 0.467 4.873 1.000 0.598 0.552 0.607 0.639 . 4.600 3.380 6.058 1.138 0.665 1.000 1.000 1.000 787 . . . . KCNJ9 280 1 599 126 0.173793103448276 TRUE TRUE ENSG00000116962.15 . BCM GRCh38.p13 chr1 236032428 236032428 + C C T Missense_Mutation SNP ENST00000264187.7 exon6 c.G1510A p.G504R exonic ENSG00000116962.15 . nonsynonymous SNV ENSG00000116962.15:ENST00000264187.7:exon6:c.G1510A:p.G504R 1q42.3 C3N-00516 0.0015 0 0.0002 0.0148 0.0026 0.0002 0.0022 0.0008 rs78916782 11.19 D D D D D D M T D 0.721 T T . 0.384 . 0.610 0.839 T T T T T D 3.637 25.200 0.999 D D 0.722 7.435 0.675 7.307 1.000 0.706 0.709 0.710 0.714 . 5.870 4.960 5.862 1.026 0.599 1.000 0.572 0.964 475 G2_nidogen/fibulin_G2F . . . NID1 208 0 337 50 0.129198966408269 TRUE NA ENSG00000172554.12 . BCM GRCh38.p13 chr2 1267474 1267474 + G G A Missense_Mutation SNP ENST00000308624.10 exon14 c.G1187A p.G396E exonic ENSG00000172554.12 . nonsynonymous SNV ENSG00000172554.12:ENST00000308624.10:exon14:c.G1187A:p.G396E 2p25.3 C3N-00516 8.466e-06 0.0001 0 0 0 0 0 0 rs768494785 12.20 T D D P D D M T D 0.790 T D D 0.476 0.492 0.756 0.458 T T T T D D 2.940 23.300 0.977 D D 0.085 2.826 -0.034 2.248 0.742 0.615 0.574 0.659 0.564 . 4.610 3.730 7.547 1.062 0.676 1.000 0.016 0.014 952 . . . . SNTG2 562 0 655 189 0.2239336492891 TRUE NA ENSG00000168702.18 . BCM GRCh38.p13 chr2 140323991 140323991 + C C T Missense_Mutation SNP ENST00000389484.8 exon81 c.G12416A p.R4139Q exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon81:c.G12416A:p.R4139Q 2q22.1 C3N-00516 8.296e-06 0 0 0 0 0 0 6.059e-05 rs755807737 12.20 D D B B D D M D N 0.552 D D D 0.329 0.583 0.499 0.319 T T T T D D 3.230 23.900 0.998 D N -0.011 2.473 0.128 2.851 0.016 0.487 0.574 0.574 0.564 . 5.670 4.790 2.620 1.026 0.599 1.000 0.999 0.998 939 . . . ID=COSV104701802;OCCURENCE=1(skin) LRP1B 76 0 295 17 0.0544871794871795 TRUE NA ENSG00000178385.15 . BCM GRCh38.p13 chr2 207976933 207976933 + C C A Missense_Mutation SNP ENST00000427836.8 exon3 c.G1264T p.D422Y exonic ENSG00000178385.15 . nonsynonymous SNV ENSG00000178385.15:ENST00000427836.8:exon3:c.G1264T:p.D422Y 2q33.3 C3N-00516 . . . . . . . . . 9.19 D D D D D D L T N 0.723 T T T 0.221 0.662 0.208 0.704 T T T T D . 3.798 25.800 0.996 D D 0.303 3.793 0.418 4.485 1.000 0.615 0.654 0.659 0.636 . 5.820 5.820 4.112 1.026 0.599 1.000 0.992 0.946 739 Pleckstrin_homology_domain . . . PLEKHM3 340 0 406 125 0.235404896421846 TRUE TRUE ENSG00000170266.16 . BCM GRCh38.p13 chr3 33016813 33016813 + T T C Missense_Mutation SNP ENST00000307363.10 exon14 c.A1375G p.N459D exonic ENSG00000170266.16 . nonsynonymous SNV ENSG00000170266.16:ENST00000307363.10:exon14:c.A1375G:p.N459D 3p22.3 C3N-00516 . . . . . . . . . 3.18 T T B B N N . D N 0.240 T D D 0.176 0.451 0.857 0.267 T . T T T T -0.720 0.039 0.911 N N -1.237 0.202 -1.300 0.209 0.426 0.732 0.725 0.744 0.714 . 5.890 -5.180 0.031 -0.211 0.665 0.000 0.001 0.043 819 . . . . GLB1 207 0 292 23 0.073015873015873 TRUE TRUE ENSG00000173706.14 . BCM GRCh38.p13 chr3 125012757 125012757 + G G A Missense_Mutation SNP ENST00000311127.9 exon6 c.C2822T p.S941L exonic ENSG00000173706.14 . nonsynonymous SNV ENSG00000173706.14:ENST00000311127.9:exon6:c.C2822T:p.S941L 3q21.2 C3N-00516 . . . . . . . . . 8.20 D D B B U N M D D 0.131 T D D 0.114 0.318 0.829 0.280 T T T T D T 1.998 19.240 0.973 N N -0.447 1.283 -0.519 1.172 1.000 0.707 0.725 0.609 0.714 . 4.780 2.970 1.622 1.176 0.676 0.010 0.051 0.480 496 . . . . HEG1 363 0 598 62 0.0939393939393939 TRUE TRUE ENSG00000155890.4 . BCM GRCh38.p13 chr3 140682967 140682967 + G G A Missense_Mutation SNP ENST00000286349.4 exon2 c.G847A p.E283K exonic ENSG00000155890.4 . nonsynonymous SNV ENSG00000155890.4:ENST00000286349.4:exon2:c.G847A:p.E283K 3q23 C3N-00516 . . . . . . . . . 1.20 T T B B N N N T N 0.225 T T T 0.085 0.457 0.468 0.259 T T T T T T 2.317 21.700 0.995 D N -0.280 1.664 -0.117 1.998 0.000 0.487 0.574 0.574 0.564 . 5.460 2.460 2.099 1.176 0.676 0.989 0.985 0.987 561 . . . ID=COSV53883465;OCCURENCE=1(breast),1(urinary_tract) TRIM42 524 1 893 52 0.055026455026455 TRUE TRUE ENSG00000038382.20 . BCM GRCh38.p13 chr5 14479976 14479976 + G G T Missense_Mutation SNP ENST00000344204.9 exon43 c.G6301T p.V2101L exonic ENSG00000038382.20 . nonsynonymous SNV ENSG00000038382.20:ENST00000344204.9:exon43:c.G6301T:p.V2101L 5p15.2 C3N-00516 . . . . . . . . . 13.20 D D B B D D H T N 0.815 T T D 0.453 0.715 0.846 0.831 D T D D D D 3.352 24.300 0.998 D D 0.571 5.639 0.641 6.772 1.000 0.732 0.725 0.744 0.714 . 5.900 5.900 8.186 1.176 0.676 1.000 0.998 0.991 764 Dbl_homology_(DH)_domain . . . TRIO 220 0 309 54 0.148760330578512 TRUE TRUE ENSG00000253159.3 . BCM GRCh38.p13 chr5 141430938 141430938 + C C T Missense_Mutation SNP ENST00000252085.4 exon1 c.C179T p.A60V exonic ENSG00000253159.3 . nonsynonymous SNV ENSG00000253159.3:ENST00000252085.4:exon1:c.C179T:p.A60V 5q31.3 C3N-00516 . . . . . . . . . 2.18 D T B B . N L T D 0.083 T T T 0.042 0.559 0.376 . . T T T T T 1.239 13.940 0.986 N N -0.538 1.102 -0.560 1.107 1.000 0.581 0.552 0.576 0.373 . 5.550 2.610 -0.116 -0.352 0.599 0.000 0.021 0.089 818 Cadherin-like;Cadherin,_N-terminal . . ID=COSV52747320;OCCURENCE=1(large_intestine),1(skin) PCDHGA12 101 1 104 6 0.0545454545454545 TRUE NA ENSG00000183117.19 . BCM GRCh38.p13 chr8 3190004 3190004 + G G A Missense_Mutation SNP ENST00000635120.2 exon34 c.C5306T p.P1769L exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon34:c.C5306T:p.P1769L 8p23.2 C3N-00516 1.974e-05 0 0 0 0 3.652e-05 0 0 rs771790436 11.19 D D D D D D . T D 0.785 T T T 0.353 0.572 0.597 . T T T T D D 3.137 23.700 0.999 D D 0.388 4.272 0.354 4.046 0.408 0.554 0.574 0.618 0.564 . 5.340 3.410 7.772 1.176 0.665 1.000 0.433 0.295 934 Sushi/SCR/CCP_domain . . . CSMD1 361 1 648 154 0.192019950124688 TRUE NA ENSG00000156687.11 . BCM GRCh38.p13 chr8 35722260 35722260 + G G A Missense_Mutation SNP ENST00000404895.7 exon9 c.G1168A p.V390I exonic ENSG00000156687.11 . nonsynonymous SNV ENSG00000156687.11:ENST00000404895.7:exon9:c.G1168A:p.V390I 8p12 C3N-00516 0.0014 0.0004 0.0002 0.0001 0.0002 0.0003 0 0.0085 rs144971419 3.20 T T B B N D N T N 0.269 T T T 0.039 . 0.093 0.368 T T T T T D 0.960 11.120 0.988 D N -0.603 0.982 -0.435 1.311 0.971 0.719 0.574 0.723 0.564 . 5.710 3.900 0.934 1.175 0.676 0.624 0.190 0.493 606 . . . ID=COSV54792896;OCCURENCE=1(large_intestine) UNC5D 241 0 412 34 0.0762331838565022 TRUE TRUE ENSG00000136997.20 . BCM GRCh38.p13 chr8 127738927 127738927 + C C G Missense_Mutation SNP ENST00000377970.6 exon2 c.C665G p.S222C exonic ENSG00000136997.20 . nonsynonymous SNV ENSG00000136997.20:ENST00000377970.6:exon2:c.C665G:p.S222C 8q24.21 C3N-00516 . . . . . . . . . 10.19 D D D D N N L T N 0.400 T D D 0.251 0.332 0.911 . T T D T D D 2.540 22.500 0.992 D . 0.609 6.016 0.548 5.633 1.000 0.789 0.672 0.768 0.562 . 4.340 4.340 3.116 0.959 0.520 1.000 0.997 0.888 962 Transcription_regulator_Myc,_N-terminal . . . MYC 122 0 182 44 0.194690265486726 TRUE TRUE ENSG00000099810.21 . BCM GRCh38.p13 chr9 21818198 21818198 + G G C Missense_Mutation SNP ENST00000404796.3 exon4 c.G343C p.D115H exonic ENSG00000099810.21;ENSG00000264545.2 . nonsynonymous SNV ENSG00000264545.2:ENST00000404796.3:exon4:c.G343C:p.D115H,ENSG00000099810.21:ENST00000644715.2:exon4:c.G343C:p.D115H 9p21.3 C3N-00516 . . . . . . . . . 17.20 D D D D N D H T D 0.957 D D D 0.691 0.880 0.911 0.603 T D D D D D 4.116 27.900 0.996 D D 1.013 14.326 0.894 13.500 1.000 0.672 0.654 0.702 0.636 . 5.100 5.100 9.327 1.176 0.676 1.000 1.000 0.987 914 Nucleoside_phosphorylase_domain . . . MTAP 368 0 308 73 0.191601049868766 TRUE TRUE ENSG00000159069.14 . BCM GRCh38.p13 chr9 136942587 136942587 + - NA T Frame_Shift_Ins NA ENST00000325285.8 exon5 c.634dupA p.I212Nfs*53 exonic ENSG00000159069.14 . frameshift insertion ENSG00000159069.14:ENST00000325285.8:exon5:c.634dupA:p.I212Nfs*53 9q34.3 C3N-00516 9.3e-06 0 0 0 0 1.696e-05 0 0 rs762193986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FBXW5 NA NA NA NA NA NA NA ENSG00000151025.11 . BCM GRCh38.p13 chr10 25598948 25598948 + C C T Missense_Mutation SNP ENST00000376351.4 exon11 c.C3322T p.R1108C exonic ENSG00000151025.11 . nonsynonymous SNV ENSG00000151025.11:ENST00000376351.4:exon11:c.C3322T:p.R1108C 10p12.1 C3N-00516 8.265e-06 0 8.648e-05 0 0 0 0 0 rs372238950 0.20 T T B B N N N T N 0.064 T T T 0.128 . 0.043 0.131 T T T T T T 0.038 1.590 0.691 N N -1.353 0.138 -1.408 0.147 0.003 0.487 0.574 0.574 0.564 . 5.790 -6.540 -0.857 -0.239 0.599 0.000 0.000 0.001 898 . . . ID=COSV66267514;OCCURENCE=1(ovary),2(skin) GPR158 294 0 487 99 0.168941979522184 TRUE TRUE ENSG00000197467.15 . BCM GRCh38.p13 chr10 69935390 69935390 + C C T Missense_Mutation SNP ENST00000398978.8 exon31 c.C1736T p.P579L exonic ENSG00000197467.15 . nonsynonymous SNV ENSG00000197467.15:ENST00000398978.8:exon31:c.C1736T:p.P579L 10q22.1 C3N-00516 4.569e-05 0 0 0 0 8.943e-05 0 0 rs766119482 10.20 D T B B N D M D D 0.433 T T D 0.439 0.376 0.884 0.137 T D D D T T 1.576 16.220 0.762 D N 0.204 3.321 0.040 2.500 0.003 0.706 0.547 0.659 0.613 . 5.320 1.320 1.269 -0.280 -0.173 1.000 0.835 0.241 630 . . . . COL13A1 70 0 121 22 0.153846153846154 TRUE NA ENSG00000182272.12 . BCM GRCh38.p13 chr11 376780 376780 + G G A Missense_Mutation SNP ENST00000329962.11 exon14 c.G1657A p.V553I exonic ENSG00000182272.12 . nonsynonymous SNV ENSG00000182272.12:ENST00000329962.11:exon14:c.G1657A:p.V553I 11p15.5 C3N-00516 . . . . . . . . . 2.20 T T B B N N N T N 0.120 T T D 0.047 0.281 0.068 0.805 D T T T T T 0.506 6.564 0.869 N N -0.841 0.598 -0.793 0.767 0.021 0.696 0.547 0.723 0.605 . 3.360 1.450 0.744 0.117 0.482 0.014 0.584 0.047 900 . . . . B4GALNT4 74 0 116 24 0.171428571428571 TRUE NA ENSG00000110665.12 . BCM GRCh38.p13 chr11 2300570 2300570 + C C T Missense_Mutation SNP ENST00000381153.8 exon2 c.G97A p.E33K exonic ENSG00000110665.12 . nonsynonymous SNV ENSG00000110665.12:ENST00000381153.8:exon2:c.G97A:p.E33K 11p15.5 C3N-00516 . . . . . . . . rs951446970 0.17 T T B B . N N . N 0.077 T T T 0.003 0.232 0.241 . . T T T T T -0.368 0.224 0.715 N N -1.866 0.017 -1.944 0.018 1.000 0.487 0.586 0.578 0.613 . 1.190 -2.390 -3.166 -1.582 -1.048 0.000 0.000 0.000 988 . . . . C11orf21 202 0 267 16 0.0565371024734982 TRUE NA ENSG00000175356.13 . BCM GRCh38.p13 chr11 9069424 9069424 + C C T Missense_Mutation SNP ENST00000309263.7 exon5 c.G589A p.A197T exonic ENSG00000175356.13 . nonsynonymous SNV ENSG00000175356.13:ENST00000309263.7:exon5:c.G589A:p.A197T 11p15.4 C3N-00516 3.298e-05 0 8.639e-05 0 0 4.501e-05 0 0 rs370871651 9.20 D T P B D D N D D 0.479 T T T 0.537 . 0.881 0.222 T T T D T D 3.096 23.600 0.997 D D 0.174 3.191 0.276 3.581 1.000 0.659 0.547 0.725 0.542 . 4.790 4.790 2.990 1.026 0.599 0.992 0.927 0.950 643 EGF-like_domain . . ID=COSV58542229;OCCURENCE=1(stomach) SCUBE2 271 0 572 34 0.0561056105610561 TRUE TRUE ENSG00000082175.15 . BCM GRCh38.p13 chr11 101091876 101091876 + C C T Missense_Mutation SNP ENST00000325455.10 exon3 c.G1790A p.G597E exonic ENSG00000082175.15 . nonsynonymous SNV ENSG00000082175.15:ENST00000325455.10:exon3:c.G1790A:p.G597E 11q22.1 C3N-00516 . . . . . . . . . 19.20 D D D D D D L D D 0.695 D D D 0.868 0.676 0.977 . D D D D D D 4.789 33 0.998 D D 0.755 7.964 0.789 9.818 1.000 0.487 0.574 0.574 0.564 . 5.810 5.810 7.810 1.026 0.599 1.000 0.996 0.979 897 Zinc_finger,_nuclear_hormone_receptor-type;Nuclear_hormone_receptor,_ligand-binding_domain . . . PGR 295 0 450 53 0.105367793240557 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-00516 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 330 1 490 162 0.248466257668712 TRUE TRUE ENSG00000139329.5 . BCM GRCh38.p13 chr12 91108276 91108276 + C C T Missense_Mutation SNP ENST00000266718.5 exon2 c.G704A p.R235H exonic ENSG00000139329.5 . nonsynonymous SNV ENSG00000139329.5:ENST00000266718.5:exon2:c.G704A:p.R235H 12q21.33 C3N-00516 . . . . . . . . . 12.20 D T D D D D N T D 0.259 T T D 0.317 0.500 0.781 0.808 T D T T D D 3.642 25.200 0.999 D D 0.432 4.551 0.454 4.767 1.000 0.554 0.547 0.574 0.621 . 5.570 4.680 3.860 1.026 0.599 1.000 1.000 0.978 900 . . . ID=COSV57129387;OCCURENCE=1(breast),1(central_nervous_system) LUM 197 0 390 36 0.0845070422535211 TRUE TRUE ENSG00000184916.9 . BCM GRCh38.p13 chr14 105144998 105144998 + G G A Missense_Mutation SNP ENST00000331782.8 exon24 c.C3016T p.R1006W exonic ENSG00000184916.9 . nonsynonymous SNV ENSG00000184916.9:ENST00000331782.8:exon24:c.C3016T:p.R1006W 14q32.33 C3N-00516 . . . . . . . . . 11.20 D D D P U N M D D 0.567 T D D 0.375 . 0.610 0.695 T D T T D D 3.595 25.000 0.999 N N -0.055 2.320 -0.174 1.848 0.952 0.672 0.588 0.645 0.711 . 3.830 3.830 0.410 1.083 0.618 0.000 0.229 0.228 982 . . . . JAG2 494 0 713 56 0.0728218465539662 TRUE NA ENSG00000226174.7 . BCM GRCh38.p13 chr14 105411495 105411495 + G G T Missense_Mutation SNP ENST00000451127.3 exon3 c.G278T p.R93M exonic ENSG00000226174.7 . nonsynonymous SNV ENSG00000226174.7:ENST00000451127.3:exon3:c.G278T:p.R93M 14q32.33 C3N-00516 . . . . . . . . . 4.18 D D B B . N N . D 0.301 T T D 0.241 0.222 0.030 . T T T T T T 1.491 15.680 0.720 N N -1.495 0.083 -1.620 0.070 1.000 0.583 0.541 0.504 0.619 . 2.620 -5.240 -0.031 0.803 0.517 0.005 0.018 0.009 964 . . . . TEX22 21 0 16 3 0.157894736842105 TRUE NA ENSG00000007541.17 . BCM GRCh38.p13 chr16 580970 580970 + C C T Missense_Mutation SNP ENST00000026218.9 exon9 c.C1529T p.A510V exonic ENSG00000007541.17 . nonsynonymous SNV ENSG00000007541.17:ENST00000026218.9:exon9:c.C1529T:p.A510V 16p13.3 C3N-00516 . . . . . . . . . 10.20 D D D P D D L T N 0.651 T T D 0.153 0.245 0.729 0.482 T T T T D D 4.212 28.800 0.996 D D 0.312 3.840 0.326 3.871 1.000 0.788 0.694 0.000 0.714 . 5.220 5.220 7.585 1.026 0.599 1.000 0.303 0.298 824 . . . ID=COSV50314907;OCCURENCE=1(large_intestine),1(pancreas),1(prostate) PIGQ 215 0 370 79 0.175946547884187 TRUE 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-00516 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 503 0 557 213 0.276623376623377 TRUE TRUE ENSG00000108244.17 . BCM GRCh38.p13 chr17 40930079 40930079 + G G C Missense_Mutation SNP ENST00000209718.8 exon4 c.C497G p.S166C exonic ENSG00000108244.17 . nonsynonymous SNV ENSG00000108244.17:ENST00000209718.8:exon4:c.C497G:p.S166C 17q21.2 C3N-00516 . . . . . . . . . 12.20 D T D D D N M D N 0.155 D D D 0.383 0.500 0.788 0.566 T D T T D T 3.481 24.600 0.804 D N 0.625 6.185 0.617 6.444 0.226 0.487 0.563 0.574 0.530 . 5.740 5.740 3.463 1.176 0.618 0.867 0.999 1.000 150 Intermediate_filament,_rod_domain . . . KRT23 93 1 157 71 0.31140350877193 TRUE TRUE ENSG00000142347.19 . BCM GRCh38.p13 chr19 8544443 8544443 + C C T Missense_Mutation SNP ENST00000644032.2 exon14 c.G1378A p.V460I exonic ENSG00000142347.19 . nonsynonymous SNV ENSG00000142347.19:ENST00000644032.2:exon14:c.G1378A:p.V460I 19p13.2 C3N-00516 0.0001 0 0.0002 0 0 1.636e-05 0.0013 0.0005 rs758097575 6.20 T T B B U D N D N 0.221 T T D 0.243 . 0.538 0.448 T T T T T D 1.473 15.560 0.896 D D -0.724 0.773 -0.494 1.211 0.702 0.646 0.634 0.645 0.613 . 3.490 3.490 1.686 0.883 0.537 0.970 0.982 0.790 624 Class_I_myosin,_motor_domain;Myosin_head,_motor_domain . . ID=COSV57792161;OCCURENCE=1(oesophagus),1(large_intestine) MYO1F 228 0 430 33 0.0712742980561555 TRUE TRUE ENSG00000170929.6 . BCM GRCh38.p13 chr19 9093605 9093605 + G G T Missense_Mutation SNP ENST00000641627.1 exon2 c.G361T p.D121Y exonic ENSG00000170929.6 . nonsynonymous SNV ENSG00000170929.6:ENST00000641627.1:exon2:c.G361T:p.D121Y 19p13.2 C3N-00516 . . . . . . . . . 14.20 D D D P D D H T D 0.792 D T T 0.432 0.605 0.838 0.155 T T D D D D 2.515 22.500 0.991 D D 0.430 4.538 0.235 3.362 0.024 0.554 0.574 0.618 0.564 . 3.900 2.860 6.653 0.009 -0.118 1.000 0.061 0.045 970 GPCR,_rhodopsin-like,_7TM . . . OR1M1 325 0 484 57 0.105360443622921 TRUE TRUE ENSG00000037757.14 . BCM GRCh38.p13 chr19 13768570 13768570 + G G C Missense_Mutation SNP ENST00000040663.8 exon4 c.G557C p.R186P exonic ENSG00000037757.14 . nonsynonymous SNV ENSG00000037757.14:ENST00000040663.8:exon4:c.G557C:p.R186P 19p13.13 C3N-00516 . . . . . . . . . 17.20 D D D D D D H T D 0.958 D T D 0.664 0.763 0.700 1.050 T D D D D D 4.179 28.500 0.996 D D 0.967 12.921 0.816 10.616 1.000 0.707 0.725 0.723 0.714 . 5.430 5.430 8.939 0.195 -0.213 1.000 0.849 0.005 958 . . . . MRI1 122 0 179 38 0.175115207373272 TRUE TRUE ENSG00000171777.16 . BCM GRCh38.p13 chr19 38413413 38413413 + G G A Missense_Mutation SNP ENST00000615439.5 exon10 c.C1292T p.P431L exonic ENSG00000171777.16 . nonsynonymous SNV ENSG00000171777.16:ENST00000615439.5:exon10:c.C1292T:p.P431L 19q13.2 C3N-00516 1.304e-05 0 0 0 0.0003 0 0 0 rs769519232 18.20 D D D D D D M T D 0.851 D D D 0.548 . 0.843 0.987 T D D D D D 4.018 27.100 0.999 D D 0.955 12.560 0.876 12.750 1.000 0.615 0.634 0.659 0.613 . 5.250 5.250 9.211 1.176 0.676 1.000 0.804 0.762 603 Ras_guanine-nucleotide_exchange_factors_catalytic_domain . . ID=COSV53039354;OCCURENCE=1(large_intestine),1(skin) RASGRP4 279 0 404 116 0.223076923076923 TRUE TRUE ENSG00000167380.16 . BCM GRCh38.p13 chr19 44177028 44177028 + G G A Missense_Mutation SNP ENST00000590089.5 exon7 c.G1766A p.C589Y exonic ENSG00000167380.16 . nonsynonymous SNV ENSG00000167380.16:ENST00000590089.5:exon7:c.G1766A:p.C589Y 19q13.31 C3N-00516 . . . . . . . . . 18.20 D D D D N D H D D 0.613 D D D 0.646 0.714 0.967 0.171 D D D D D T 4.140 28.100 0.998 D D 0.892 10.835 0.799 10.086 1.000 0.707 0.702 0.725 0.636 . 4.100 4.100 7.711 1.158 0.656 1.000 0.925 0.997 906 Zinc_finger_C2H2-type . . . ZNF226 268 0 322 136 0.296943231441048 TRUE TRUE ENSG00000124198.9 . BCM GRCh38.p13 chr20 49018910 49018910 + A A C Missense_Mutation SNP ENST00000371917.5 exon34 c.A4536C p.L1512F exonic ENSG00000124198.9 . nonsynonymous SNV ENSG00000124198.9:ENST00000371917.5:exon34:c.A4536C:p.L1512F 20q13.13 C3N-00516 . . . . . . . . . 3.20 T T B B N D L T N 0.501 T T T 0.045 0.167 0.251 0.501 T T T T T D 1.464 15.500 0.822 D N -0.428 1.324 -0.320 1.523 0.002 0.707 0.725 0.725 0.714 . 4.720 1.180 0.440 0.325 -0.043 0.993 1.000 0.997 934 . . . . ARFGEF2 451 0 685 41 0.0564738292011019 TRUE TRUE ENSG00000171587.15 . BCM GRCh38.p13 chr21 40369117 40369117 + C C T Missense_Mutation SNP ENST00000400454.6 exon4 c.G637A p.A213T exonic ENSG00000171587.15 . nonsynonymous SNV ENSG00000171587.15:ENST00000400454.6:exon4:c.G637A:p.A213T 21q22.2 C3N-00516 . . . . . . . . . 12.20 D D D D D D L T D 0.811 T T T 0.289 0.522 0.613 1.447 D T T T D D 3.875 26.200 0.999 D D 0.842 9.661 0.828 11.022 1.000 0.487 0.574 0.574 0.564 . 6.070 6.070 7.813 1.026 0.599 1.000 0.954 0.984 970 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV68648785;OCCURENCE=1(breast) DSCAM 118 0 182 21 0.103448275862069 TRUE TRUE ENSG00000160282.14 . BCM GRCh38.p13 chr21 46138615 46138615 + G G A Missense_Mutation SNP ENST00000397746.8 exon12 c.C1336T p.R446W exonic ENSG00000160282.14 . nonsynonymous SNV ENSG00000160282.14:ENST00000397746.8:exon12:c.C1336T:p.R446W 21q22.3 C3N-00516 8.243e-05 0 0.0002 0.0002 0 4.965e-05 0 0.0002 rs201966668 7.20 T D D P U N M T N 0.350 T T T 0.089 . 0.732 0.278 T T D D T D 3.662 25.300 0.999 N D 0.117 2.954 0.020 2.430 1.000 0.646 0.588 0.645 0.542 . 4.390 3.350 0.498 1.040 0.676 0.000 0.553 0.768 982 Cyclodeaminase/cyclohydrolase . . ID=COSV52428035;OCCURENCE=1(pancreas) FTCD 377 0 758 41 0.0513141426783479 TRUE TRUE ENSG00000100191.5 . BCM GRCh38.p13 chr22 32254154 32254154 + C C T Missense_Mutation SNP ENST00000266086.5 exon2 c.G195A p.M65I exonic ENSG00000100191.5 . nonsynonymous SNV ENSG00000100191.5:ENST00000266086.5:exon2:c.G195A:p.M65I 22q12.3 C3N-00516 . . . . . . . . . 6.20 D T B B D N L D N 0.237 T D T 0.327 0.731 0.675 0.178 T T T T T D 1.549 16.050 0.939 D N -0.510 1.156 -0.513 1.181 0.000 0.554 0.574 0.547 0.621 . 5.390 2.090 5.552 0.068 -0.182 1.000 0.009 0.012 309 . . . . SLC5A4 512 0 624 177 0.220973782771536 TRUE TRUE ENSG00000102038.15 . BCM GRCh38.p13 chrX 129481100 129481100 + C C T Missense_Mutation SNP ENST00000371122.8 exon18 c.G2303A p.R768H exonic ENSG00000102038.15 . nonsynonymous SNV ENSG00000102038.15:ENST00000371122.8:exon18:c.G2303A:p.R768H Xq25 C3N-00516 . . . . . . . . . 18.19 D D D D D D M D D 0.594 D D D 0.848 0.546 0.952 1.765 D T D D D D 4.070 27.500 1.000 D . . . . . 1.000 . . . . . 5.810 5.810 7.905 1.026 0.599 1.000 1.000 0.999 253 ISWI,_HAND_domain . . ID=COSV100946432;OCCURENCE=1(large_intestine) SMARCA1 146 0 133 20 0.130718954248366 TRUE NA ENSG00000144229.12 . BCM GRCh38.p13 chr2 137642573 137642573 + C C T Silent SNP ENST00000409968.6 exon21 c.C3885T p.T1295T exonic ENSG00000144229.12 . synonymous SNV ENSG00000144229.12:ENST00000409968.6:exon21:c.C3885T:p.T1295T 2q22.1 C3N-00516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . THSD7B 241 0 396 35 0.0812064965197216 TRUE TRUE ENSG00000204681.11 . BCM GRCh38.p13 chr6 29607177 29607177 + G G A Silent SNP ENST00000377034.9 exon17 c.C2034T p.Y678Y exonic ENSG00000204681.11 . synonymous SNV ENSG00000204681.11:ENST00000377034.9:exon17:c.C2034T:p.Y678Y 6p22.1 C3N-00516 1.647e-05 0 0 0 0 2.997e-05 0 0 rs758589287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63541979;OCCURENCE=2(large_intestine),1(pancreas),2(lung) GABBR1 270 0 430 30 0.0652173913043478 TRUE TRUE ENSG00000112175.8 . BCM GRCh38.p13 chr6 55874728 55874728 + G G A Silent SNP ENST00000370830.4 exon1 c.C138T p.H46H exonic ENSG00000112175.8 . synonymous SNV ENSG00000112175.8:ENST00000370830.4:exon1:c.C138T:p.H46H 6p12.1 C3N-00516 8.245e-06 0 0 0 0 1.499e-05 0 0 rs773535817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100895669;OCCURENCE=1(central_nervous_system) BMP5 418 0 713 80 0.100882723833544 TRUE NA ENSG00000131018.24 . BCM GRCh38.p13 chr6 152325961 152325961 + G G A Silent SNP ENST00000367255.10 exon80 c.C15435T p.H5145H exonic ENSG00000131018.24 . synonymous SNV ENSG00000131018.24:ENST00000367255.10:exon80:c.C15435T:p.H5145H 6q25.2 C3N-00516 2.481e-05 0 0 0 0 0 0 0.0002 rs747172162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE1 220 0 557 32 0.0543293718166384 TRUE NA ENSG00000149091.15 . BCM GRCh38.p13 chr11 46379017 46379017 + C C T Silent SNP ENST00000456247.6 exon28 c.C2442T p.G814G exonic ENSG00000149091.15 . synonymous SNV ENSG00000149091.15:ENST00000456247.6:exon28:c.C2442T:p.G814G 11p11.2 C3N-00516 2.271e-05 0.0003 0 0 0 0 0 0 rs148565335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58988068;OCCURENCE=1(oesophagus) DGKZ 58 0 109 16 0.128 TRUE TRUE ENSG00000111344.11 . BCM GRCh38.p13 chr12 113115744 113115744 + C C T Silent SNP ENST00000261729.9 exon11 c.G894A p.L298L exonic ENSG00000111344.11 . synonymous SNV ENSG00000111344.11:ENST00000261729.9:exon11:c.G894A:p.L298L 12q24.13 C3N-00516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RASAL1 280 0 405 23 0.0537383177570093 TRUE NA ENSG00000092529.25 . BCM GRCh38.p13 chr15 42394303 42394303 + G G A Silent SNP ENST00000397163.8 exon8 c.G1077A p.P359P exonic ENSG00000092529.25 . synonymous SNV ENSG00000092529.25:ENST00000397163.8:exon8:c.G1077A:p.P359P 15q15.1 C3N-00516 0.0001 0.0003 0 0 0 0.0002 0 0 rs759384108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100532508;OCCURENCE=1(stomach) CAPN3 323 0 513 142 0.216793893129771 TRUE NA ENSG00000077235.18 . BCM GRCh38.p13 chr16 27506073 27506073 + C C T Silent SNP ENST00000356183.9 exon10 c.G1596A p.P532P exonic ENSG00000077235.18 . synonymous SNV ENSG00000077235.18:ENST00000356183.9:exon10:c.G1596A:p.P532P 16p12.1 C3N-00516 1.65e-05 0 0 0 0 3.001e-05 0 0 rs781464590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62239574;OCCURENCE=2(large_intestine) GTF3C1 184 0 312 46 0.128491620111732 TRUE TRUE ENSG00000105392.16 . BCM GRCh38.p13 chr19 47839658 47839658 + G G A Silent SNP ENST00000221996.12 exon4 c.G591A p.P197P exonic ENSG00000105392.16 . synonymous SNV ENSG00000105392.16:ENST00000221996.12:exon4:c.G591A:p.P197P 19q13.33 C3N-00516 0.0002 0 0 0 0 3.009e-05 0 0.0012 rs769009205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55758637;OCCURENCE=2(central_nervous_system) CRX 199 0 304 16 0.05 TRUE TRUE ENSG00000101193.8 . BCM GRCh38.p13 chr20 62943033 62943033 + C C T Silent SNP ENST00000266069.5 exon3 c.C165T p.I55I exonic ENSG00000101193.8 . synonymous SNV ENSG00000101193.8:ENST00000266069.5:exon3:c.C165T:p.I55I 20q13.33 C3N-00516 . . . . . . . . rs965129217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GID8 167 0 245 66 0.212218649517685 TRUE NA ENSG00000168405.17 . BCM GRCh38.p13 chr6 25091957 25091957 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000168405.17 . . . 6p22.3 C3N-00516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CMAHP 78 0 219 17 0.0720338983050847 TRUE NA ENSG00000286759.1 . BCM GRCh38.p13 chr16 81154006 81154006 + C C T 3'Flank SNP NA NA NA NA downstream ENSG00000286759.1 dist=30 . . 16q23.2 C3N-00516 0.0002 0 0 0.0012 0 0.0003 0 0 rs778461537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092718.9 146 0 297 18 0.0571428571428571 TRUE NA ENSG00000243156.9 . BCM GRCh38.p13 chr22 17884300 17884300 + - NA C Intron SNP NA NA NA NA intronic ENSG00000243156.9 . . . 22q11.21 C3N-00516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MICAL3 NA NA NA NA NA NA NA ENSG00000118004.18 . BCM GRCh38.p13 chr2 3644057 3644057 + A A G Missense_Mutation SNP ENST00000349077.9 exon7 c.A755G p.N252S exonic ENSG00000118004.18 . nonsynonymous SNV ENSG00000118004.18:ENST00000349077.9:exon7:c.A755G:p.N252S 2p25.3 C3L-02610 . . . . . . . . . 12.20 D T D D D D M T D 0.627 T T D 0.355 0.880 0.753 1.069 T T T T D D 3.045 23.500 0.998 D D 0.522 5.214 0.529 5.430 1.000 0.554 0.624 0.602 0.613 . 5.090 5.090 5.594 1.278 0.691 1.000 1.000 0.999 946 C-type_lectin-like;C-type_lectin,_conserved_site;Collectin,_C-type_lectin-like_domain . . ID=COSV99363298;OCCURENCE=1(lung) COLEC11 554 0 939 90 0.0874635568513119 TRUE TRUE ENSG00000134115.13 . BCM GRCh38.p13 chr3 1383173 1383173 + G G T Missense_Mutation SNP ENST00000446702.7 exon18 c.G2398T p.D800Y exonic ENSG00000134115.13 . nonsynonymous SNV ENSG00000134115.13:ENST00000446702.7:exon18:c.G2398T:p.D800Y 3p26.3 C3L-02610 . . . . . . . . . 15.20 D D D D D D M T D 0.689 T T D 0.395 0.354 0.874 0.019 T D D T D D 4.118 27.900 0.995 D D 1.027 14.795 0.992 18.378 1.000 0.487 0.574 0.547 0.564 . 6.080 6.080 9.355 1.176 0.676 1.000 1.000 0.948 938 Fibronectin_type_III . . ID=COSV63192865;OCCURENCE=1(lung) CNTN6 128 0 219 23 0.0950413223140496 TRUE TRUE ENSG00000114353.17 . BCM GRCh38.p13 chr3 50257619 50257619 + G G T Missense_Mutation SNP ENST00000313601.11 exon8 c.G997T p.V333L exonic ENSG00000114353.17 . nonsynonymous SNV ENSG00000114353.17:ENST00000313601.11:exon8:c.G997T:p.V333L 3p21.31 C3L-02610 . . . . . . . . . 15.20 D T P P D D L D N 0.760 D D D 0.832 0.667 0.973 2.233 D D D D D D 3.935 26.600 0.997 D D 0.564 5.571 0.585 6.043 1.000 0.722 0.702 0.702 0.735 . 4.500 4.500 8.081 1.161 0.676 1.000 1.000 0.997 3 . . . . GNAI2 81 0 130 14 0.0972222222222222 TRUE TRUE ENSG00000109265.14 . BCM GRCh38.p13 chr4 56314154 56314154 + G G A Missense_Mutation SNP ENST00000264229.11 exon8 c.G652A p.E218K exonic ENSG00000109265.14 . nonsynonymous SNV ENSG00000109265.14:ENST00000264229.11:exon8:c.G652A:p.E218K 4q12 C3L-02610 . . . . . . . . . 3.19 T T P B . N L T N 0.305 T T T 0.031 0.136 0.188 0.857 T T T T D D 2.331 21.700 0.995 D N 0.012 2.553 -0.024 2.279 1.000 0.706 0.588 0.710 0.655 . 4.540 2.710 4.951 0.119 0.590 0.999 0.061 0.806 283 . . . . CRACD 336 0 496 59 0.106306306306306 TRUE TRUE ENSG00000112769.20 . BCM GRCh38.p13 chr6 112114687 112114687 + C C A Missense_Mutation SNP ENST00000230538.12 exon37 c.G5182T p.D1728Y exonic ENSG00000112769.20 . nonsynonymous SNV ENSG00000112769.20:ENST00000230538.12:exon37:c.G5182T:p.D1728Y 6q21 C3L-02610 . . . . . . . . . 15.17 D D . . D D . D D 0.751 D D D 0.729 0.856 0.952 0.632 T T D D D D 4.159 28.300 0.996 D D 0.901 11.068 0.870 12.544 1.000 0.672 0.590 0.574 0.711 . 6.060 6.060 5.004 1.026 0.599 1.000 1.000 0.999 751 Laminin_G_domain . . . LAMA4 383 0 539 68 0.112026359143328 TRUE TRUE ENSG00000146411.6 . BCM GRCh38.p13 chr6 134002127 134002127 + G G A Missense_Mutation SNP ENST00000275230.6 exon4 c.C1570T p.L524F exonic ENSG00000146411.6 . nonsynonymous SNV ENSG00000146411.6:ENST00000275230.6:exon4:c.C1570T:p.L524F 6q23.2 C3L-02610 1.65e-05 0 0 0 0 2.999e-05 0 0 rs138921989 3.20 T T B B N N L T N 0.411 T T D 0.219 . 0.587 0.545 T T T T D T 2.886 23.200 0.996 D N -0.469 1.238 -0.313 1.538 0.999 0.615 0.590 0.659 0.580 . 5.780 3.980 3.843 0.213 -0.148 0.954 0.950 0.875 873 Major_facilitator_superfamily_domain . . . SLC2A12 247 0 257 16 0.0586080586080586 TRUE NA ENSG00000127989.14 . BCM GRCh38.p13 chr7 91874169 91874169 + C C A Missense_Mutation SNP ENST00000351870.8 exon3 c.G625T p.D209Y exonic ENSG00000127989.14 . nonsynonymous SNV ENSG00000127989.14:ENST00000351870.8:exon3:c.G625T:p.D209Y 7q21.2 C3L-02610 . . . . . . . . . 8.19 D D D P N D . T D 0.373 T T T 0.106 0.348 0.325 0.046 T T T T D D 2.592 22.600 0.992 D N -0.125 2.097 -0.203 1.779 0.021 0.707 0.725 0.659 0.592 . 4.880 0.969 1.156 -0.214 -0.242 0.785 0.955 0.976 145 . . . . MTERF1 235 0 260 60 0.1875 TRUE TRUE ENSG00000169876.14 . BCM GRCh38.p13 chr7 101032351 101032351 + C C G Missense_Mutation SNP ENST00000306151.9 exon3 c.C935G p.A312G exonic ENSG00000169876.14 . nonsynonymous SNV ENSG00000169876.14:ENST00000306151.9:exon3:c.C935G:p.A312G 7q22.1 C3L-02610 . . . . . . . . . 1.18 D . P B . N L T N 0.029 T T T 0.021 0.177 0.040 . T T T T T T -0.434 0.164 0.461 N N -1.143 0.270 -1.280 0.222 0.000 0.497 0.590 0.590 0.542 . 1.280 -0.987 -1.205 -1.183 -0.438 0.000 0.000 0.000 830 . . . . MUC17 156 0 209 16 0.0711111111111111 TRUE TRUE ENSG00000171115.4 . BCM GRCh38.p13 chr7 150477308 150477308 + G G A Missense_Mutation SNP ENST00000307271.4 exon5 c.G1526A p.R509Q exonic ENSG00000171115.4 . nonsynonymous SNV ENSG00000171115.4:ENST00000307271.4:exon5:c.G1526A:p.R509Q 7q36.1 C3L-02610 8.238e-06 0 0 0 0 0 0 6.056e-05 rs749652932 0.20 T T B B N N N T N 0.040 T T T 0.028 0.466 0.095 0.166 T T T T T T -1.037 0.006 0.568 N N -2.031 0.008 -2.016 0.013 1.000 0.707 0.725 0.575 0.714 . 4.110 -6.520 -2.630 -0.689 -0.942 0.000 0.002 0.002 946 AIG1-type_guanine_nucleotide-binding_(G)_domain . . ID=COSV56230970;OCCURENCE=1(kidney) GIMAP8 136 1 187 33 0.15 TRUE TRUE ENSG00000183117.19 . BCM GRCh38.p13 chr8 4031967 4031967 + A A T Missense_Mutation SNP ENST00000635120.2 exon4 c.T548A p.L183Q exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon4:c.T548A:p.L183Q 8p23.2 C3L-02610 . . . . . . . . . 15.20 D D D D U D M T D 0.972 D T D 0.658 0.681 0.743 . T T D D D D 3.847 26.100 0.995 D D 0.705 7.189 0.625 6.550 0.998 0.554 0.574 0.602 0.564 . 5.520 5.520 9.011 1.307 0.756 1.000 0.894 0.257 983 Sushi/SCR/CCP_domain . . . CSMD1 182 0 268 33 0.109634551495017 TRUE NA ENSG00000104228.13 . BCM GRCh38.p13 chr8 27289170 27289170 + A A G Missense_Mutation SNP ENST00000305364.9 exon5 c.T896C p.V299A exonic ENSG00000104228.13 . nonsynonymous SNV ENSG00000104228.13:ENST00000305364.9:exon5:c.T896C:p.V299A 8p21.2 C3L-02610 . . . . . . . . . 7.20 T D P B N D M T D 0.401 T T D 0.276 0.669 0.728 0.559 T T T T D T 2.471 22.300 0.979 D N -0.070 2.272 -0.060 2.165 1.000 0.732 0.725 0.744 0.714 . 5.950 5.950 5.404 1.312 0.756 0.644 0.104 0.521 626 0.000 . . . TRIM35 99 0 186 23 0.110047846889952 TRUE TRUE ENSG00000150054.18 . BCM GRCh38.p13 chr10 28131585 28131585 + C C T Missense_Mutation SNP ENST00000337532.9 exon7 c.G422A p.R141H exonic ENSG00000150054.18 . nonsynonymous SNV ENSG00000150054.18:ENST00000337532.9:exon7:c.G422A:p.R141H 10p12.1 C3L-02610 4.953e-05 9.645e-05 0 0 0 1.502e-05 0 0.0002 rs200656300 9.20 T T D D D D M T N 0.939 T T T 0.299 . 0.705 0.789 T T T D T D 4.065 27.500 0.999 D D 0.810 8.969 0.797 10.047 1.000 0.615 0.574 0.659 0.632 . 5.740 5.740 7.776 1.023 0.599 1.000 0.986 0.991 719 PDZ_domain . . ID=COSV61730709;OCCURENCE=1(adrenal_gland),2(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(prostate),1(endometrium) MPP7 129 0 183 26 0.124401913875598 TRUE TRUE ENSG00000171798.18 . BCM GRCh38.p13 chr10 133198691 133198691 + C C A Missense_Mutation SNP ENST00000304613.8 exon14 c.C2183A p.T728K exonic ENSG00000171798.18 . nonsynonymous SNV ENSG00000171798.18:ENST00000304613.8:exon14:c.C2183A:p.T728K 10q26.3 C3L-02610 . . . . . . . . . 1.19 D T P B N N . T N 0.125 T T T 0.020 0.271 0.085 0.243 T T T T T T 0.261 3.828 0.475 N N -0.669 0.865 -0.810 0.743 0.027 0.646 0.547 0.645 0.563 . 4.000 2.050 -3.607 0.072 0.531 0.000 0.000 0.001 994 . . . ID=COSV58831384;OCCURENCE=2(thyroid) KNDC1 106 0 255 16 0.0590405904059041 TRUE TRUE ENSG00000188070.9 . BCM GRCh38.p13 chr11 63764296 63764296 + C C T Missense_Mutation SNP ENST00000433688.2 exon4 c.G1327A p.G443R exonic ENSG00000188070.9 . nonsynonymous SNV ENSG00000188070.9:ENST00000433688.2:exon4:c.G1327A:p.G443R 11q13.1 C3L-02610 . . . . . . . . . 7.9 . D D D . . M . . 0.755 . . . . . 0.140 . . T D D . T 3.908 26.400 0.979 D . . . . . 1.000 0.116 0.097 0.050 0.196 0.955 4.250 4.250 3.159 0.953 0.506 1.000 0.991 0.953 561 Zinc_finger_C2H2-type . . . C11orf95 81 0 242 23 0.0867924528301887 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02610 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 281 0 309 102 0.248175182481752 TRUE TRUE ENSG00000165966.16 . BCM GRCh38.p13 chr12 41573831 41573831 + G G A Missense_Mutation SNP ENST00000402685.7 exon10 c.G3052A p.A1018T exonic ENSG00000165966.16 . nonsynonymous SNV ENSG00000165966.16:ENST00000402685.7:exon10:c.G3052A:p.A1018T 12q12 C3L-02610 . . . . . . . . . 5.20 T T B B D D N T N 0.171 T T T 0.192 0.299 0.614 0.458 T T T T D T 1.665 16.800 0.275 D D -0.499 1.179 -0.253 1.663 0.144 0.554 0.574 0.602 0.564 . 5.000 4.100 3.297 1.176 0.676 1.000 1.000 0.982 789 . . . . PDZRN4 50 0 60 14 0.189189189189189 TRUE TRUE ENSG00000083642.19 . BCM GRCh38.p13 chr13 32770679 32770679 + A A C Missense_Mutation SNP ENST00000315596.15 exon33 c.A4090C p.I1364L exonic ENSG00000083642.19 . nonsynonymous SNV ENSG00000083642.19:ENST00000315596.15:exon33:c.A4090C:p.I1364L 13q13.1 C3L-02610 . . . . . . . . . 1.19 T T B B N N N . N 0.279 T T T 0.048 0.151 0.043 0.084 T T T T T T 1.444 15.370 0.911 D N -0.683 0.841 -0.433 1.314 0.222 0.707 0.725 0.725 0.714 . 6.070 3.350 1.759 0.240 -0.274 1.000 1.000 0.990 670 . . . . PDS5B 200 1 255 31 0.108391608391608 TRUE TRUE ENSG00000133083.14 . BCM GRCh38.p13 chr13 36126004 36126004 + C C T Missense_Mutation SNP ENST00000360631.7 exon2 c.G134A p.R45H exonic ENSG00000133083.14 . nonsynonymous SNV ENSG00000133083.14:ENST00000360631.7:exon2:c.G134A:p.R45H 13q13.3 C3L-02610 . . . . . . . . . 17.20 D D D D D D M T N 0.735 D D D 0.334 0.448 0.864 1.473 D T D D D D 4.153 28.200 0.999 D D 0.860 10.067 0.850 11.766 1.000 0.713 0.574 0.609 0.586 . 5.670 5.670 7.730 1.026 0.599 1.000 0.997 0.996 765 . . . . DCLK1 274 1 428 46 0.0970464135021097 TRUE TRUE ENSG00000133110.15 . BCM GRCh38.p13 chr13 37569789 37569789 + C C T Missense_Mutation SNP ENST00000379747.9 exon20 c.G2302A p.G768R exonic ENSG00000133110.15 . nonsynonymous SNV ENSG00000133110.15:ENST00000379747.9:exon20:c.G2302A:p.G768R 13q13.3 C3L-02610 . . . . . . . . . 11.20 D D P P N D L D N 0.510 D D D 0.414 0.322 0.884 0.414 T T D T D D 3.586 25.000 0.996 D N 0.083 2.820 0.131 2.863 0.811 0.638 0.574 0.574 0.668 . 5.360 4.500 1.860 1.026 0.599 0.994 0.861 0.883 503 . . . . POSTN 215 0 182 17 0.085427135678392 TRUE TRUE ENSG00000197616.12 . BCM GRCh38.p13 chr14 23402464 23402464 + C C A Missense_Mutation SNP ENST00000405093.8 exon12 c.G1141T p.D381Y exonic ENSG00000197616.12 . nonsynonymous SNV ENSG00000197616.12:ENST00000405093.8:exon12:c.G1141T:p.D381Y 14q11.2 C3L-02610 . . . . . . . . . 10.19 T T P P . D L D N 0.567 D D D 0.576 0.448 0.953 0.974 T D T T D D 5.171 33 0.983 D D 0.234 3.459 0.176 3.070 1.000 0.497 0.590 0.578 0.613 . 3.760 3.760 4.794 1.012 0.533 1.000 0.640 0.039 373 Myosin_head,_motor_domain . . . MYH6 154 0 278 31 0.100323624595469 TRUE TRUE ENSG00000198732.11 . BCM GRCh38.p13 chr14 69952250 69952250 + G G A Missense_Mutation SNP ENST00000381280.4 exon2 c.G212A p.R71Q exonic ENSG00000198732.11 . nonsynonymous SNV ENSG00000198732.11:ENST00000381280.4:exon2:c.G212A:p.R71Q 14q24.2 C3L-02610 8.237e-06 9.61e-05 0 0 0 0 0 0 rs376548937 11.20 D D D D D D L T D 0.173 T T T 0.215 . 0.722 0.803 T T T T D D 3.860 26.100 0.999 D D 0.574 5.666 0.546 5.606 1.000 0.638 0.610 0.653 0.564 . 5.440 4.550 4.444 1.176 0.676 1.000 1.000 0.992 700 Kazal_domain . . . SMOC1 205 0 299 47 0.135838150289017 TRUE NA ENSG00000184986.11 . BCM GRCh38.p13 chr14 105528845 105528845 + C C T Missense_Mutation SNP ENST00000392519.7 exon2 c.C11T p.P4L exonic ENSG00000184986.11 . nonsynonymous SNV ENSG00000184986.11:ENST00000392519.7:exon2:c.C11T:p.P4L 14q32.33 C3L-02610 . . . . . . . . . 12.19 D D D D U D N . D 0.388 T T D 0.164 0.235 0.314 1.273 D T T T D D 3.460 24.600 0.998 D D 0.452 4.682 0.424 4.533 1.000 0.583 0.607 0.615 0.568 . 3.770 3.770 4.475 1.010 0.527 1.000 0.998 0.996 952 . . . . TMEM121 87 0 151 27 0.151685393258427 TRUE TRUE ENSG00000179455.9 . BCM GRCh38.p13 chr15 23566425 23566425 + C C T Missense_Mutation SNP ENST00000314520.6 exon1 c.C643T p.R215C exonic ENSG00000179455.9 . nonsynonymous SNV ENSG00000179455.9:ENST00000314520.6:exon1:c.C643T:p.R215C 15q11.2 C3L-02610 8.279e-06 0 0 0 0 1.503e-05 0 0 rs779114986 10.20 D D D P D D M T D 0.313 T T T 0.208 0.529 0.753 0.097 T T T T D T 3.999 27.000 0.999 D D 0.438 4.586 0.380 4.220 1.000 0.487 0.514 0.574 0.651 . 4.070 4.070 3.643 0.941 0.599 1.000 0.749 0.515 994 . . . ID=COSV58809720;OCCURENCE=1(urinary_tract) MKRN3 220 0 402 34 0.0779816513761468 TRUE TRUE ENSG00000159433.12 . BCM GRCh38.p13 chr15 42694658 42694658 + C C A Missense_Mutation SNP ENST00000290607.12 exon24 c.C12895A p.L4299I exonic ENSG00000159433.12 . nonsynonymous SNV ENSG00000159433.12:ENST00000290607.12:exon24:c.C12895A:p.L4299I 15q15.2 C3L-02610 . . . . . . . . . 4.16 D . . . . N M T N 0.240 T T D 0.050 . 0.067 . T T T T D T 1.322 14.550 0.989 N N -0.332 1.536 -0.433 1.314 0.297 0.732 0.744 0.659 0.684 . 5.810 2.620 0.037 1.026 0.599 0.000 0.715 0.475 91 . . . . STARD9 258 0 373 42 0.101204819277108 TRUE TRUE ENSG00000103522.16 . BCM GRCh38.p13 chr16 27443041 27443041 + C C A Missense_Mutation SNP ENST00000337929.8 exon5 c.C432A p.D144E exonic ENSG00000103522.16 . nonsynonymous SNV ENSG00000103522.16:ENST00000337929.8:exon5:c.C432A:p.D144E 16p12.1 C3L-02610 . . . . . . . . rs949248876 1.20 T T B B N N N T N 0.097 T T D 0.019 . 0.457 0.264 T T T T T T -0.519 0.108 0.689 N N -1.636 0.048 -1.639 0.065 0.995 0.672 0.702 0.602 0.613 . 3.630 -2.400 -0.198 -0.434 -0.316 0.005 0.004 0.013 889 Fibronectin_type_III . . . IL21R 103 0 173 18 0.0942408376963351 TRUE NA ENSG00000169181.13 . BCM GRCh38.p13 chr16 28063179 28063179 + - NA G Frame_Shift_Ins NA ENST00000447459.7 exon1 c.245dupC p.G83Wfs*36 exonic ENSG00000169181.13 . frameshift insertion ENSG00000169181.13:ENST00000447459.7:exon1:c.245dupC:p.G83Wfs*36 16p12.1 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GSG1L NA NA NA NA NA NA NA ENSG00000167513.9 . BCM GRCh38.p13 chr16 88804841 88804841 + C C T Missense_Mutation SNP ENST00000301019.9 exon3 c.C431T p.A144V exonic ENSG00000167513.9 . nonsynonymous SNV ENSG00000167513.9:ENST00000301019.9:exon3:c.C431T:p.A144V 16q24.3 C3L-02610 . . . . . . . . . 0.20 T T B B N N L T N 0.046 T T T 0.030 0.204 0.714 0.013 T T T T T T 0.611 7.622 0.979 N N -0.862 0.569 -0.898 0.623 1.000 0.767 0.672 0.672 0.555 . 4.260 2.170 0.747 -0.294 -0.277 0.002 0.007 0.004 793 . . . . CDT1 275 1 497 86 0.147512864493997 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675070 7675070 + C C G Missense_Mutation SNP ENST00000269305.8 exon5 c.G542C p.R181P exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.G542C:p.R181P 17p13.1 C3L-02610 . . . . . . . . . 19.20 D D D D D D M D D 0.890 D D D 0.894 0.944 0.982 1.991 T D D D D D 3.696 25.400 0.997 D D 0.485 4.921 0.396 4.334 0.977 0.722 0.698 0.698 0.735 . 5.260 4.280 0.789 1.026 0.599 0.107 0.987 0.535 434 p53,_DNA-binding_domain . . ID=COSV52676870;OCCURENCE=3(breast),1(liver),3(large_intestine),2(ovary),1(haematopoietic_and_lymphoid_tissue),3(urinary_tract),10(lung),2(upper_aerodigestive_tract) TP53 334 0 524 85 0.139573070607553 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11611672 11611672 + T T A Missense_Mutation SNP ENST00000262442.9 exon4 c.T796A p.Y266N exonic ENSG00000007174.18 . nonsynonymous SNV ENSG00000007174.18:ENST00000262442.9:exon4:c.T796A:p.Y266N 17p12 C3L-02610 . . . . . . . . . 9.20 D D B B N D M T D 0.503 T T D 0.139 0.696 0.646 0.147 T T T T D D 1.551 16.070 0.882 D N -0.249 1.744 -0.180 1.834 0.000 0.487 0.574 0.547 0.564 . 5.690 3.490 1.133 1.120 0.644 1.000 0.998 0.382 670 Dynein_heavy_chain,_domain-1 . . . DNAH9 133 0 158 20 0.112359550561798 TRUE TRUE ENSG00000108375.12 . BCM GRCh38.p13 chr17 58362570 58362570 + G G A Missense_Mutation SNP ENST00000584437.5 exon5 c.C661T p.R221W exonic ENSG00000108375.12;ENSG00000285897.1 . nonsynonymous SNV ENSG00000108375.12:ENST00000584437.5:exon5:c.C661T:p.R221W,ENSG00000285897.1:ENST00000648873.1:exon5:c.C661T:p.R221W 17q22 C3L-02610 4.223e-05 0 0 0 0.0002 1.528e-05 0 0.0002 rs748533737 12.20 D D D D D D M T D 0.597 T T T 0.209 0.544 0.468 1.084 T T T T D D 3.556 24.900 0.999 D D 0.019 2.581 0.019 2.426 1.000 0.646 0.546 0.645 0.542 . 5.430 0.192 1.423 -0.198 -0.182 1.000 0.997 0.943 308 . . . ID=COSV68458461;OCCURENCE=1(large_intestine) RNF43 70 0 142 27 0.159763313609467 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51047143 51047143 + G G T Nonsense_Mutation SNP ENST00000342988.8 exon2 c.G97T p.E33X exonic ENSG00000141646.14 . stopgain ENSG00000141646.14:ENST00000342988.8:exon2:c.G97T:p.E33X 18q21.2 C3L-02610 . . . . . . . . . 5.6 . . . . D A . . . 0.929 . . . . . . . . . D D . . 6.813 36 0.998 D N 1.293 38.414 1.165 37.551 1.000 0.706 0.725 0.710 0.613 . 5.860 5.860 10.003 1.161 0.676 1.000 1.000 1.000 672 MAD_homology_1,_Dwarfin-type;MAD_homology,_MH1 . . ID=COSV61695955;OCCURENCE=1(large_intestine) SMAD4 406 0 380 86 0.184549356223176 TRUE TRUE ENSG00000167554.15 . BCM GRCh38.p13 chr19 52365857 52365857 + C C T Missense_Mutation SNP ENST00000403906.8 exon6 c.C479T p.S160L exonic ENSG00000167554.15 . nonsynonymous SNV ENSG00000167554.15:ENST00000403906.8:exon6:c.C479T:p.S160L 19q13.41 C3L-02610 3.308e-05 0 0 0.0005 0 0 0 0 rs768546961 1.19 T T B B . N L T D 0.159 T T T 0.007 0.345 0.132 0.161 T T T T T T 0.009 1.394 0.760 N N -1.452 0.097 -1.567 0.085 0.000 0.554 0.588 0.602 0.568 . 1.110 -1.380 -1.622 -0.939 -1.203 0.000 0.013 0.011 988 . . . . ZNF610 178 0 188 32 0.145454545454545 TRUE NA ENSG00000099889.14 . BCM GRCh38.p13 chr22 19972408 19972408 + C C T Missense_Mutation SNP ENST00000263207.8 exon17 c.G2645A p.G882D exonic ENSG00000099889.14 . nonsynonymous SNV ENSG00000099889.14:ENST00000263207.8:exon17:c.G2645A:p.G882D 22q11.21 C3L-02610 . . . . . . . . . 1.20 T T B B N N L T N 0.240 T T D 0.072 0.153 0.349 0.155 T T T T T T 0.485 6.346 0.778 N N -1.178 0.243 -1.193 0.289 1.000 0.672 0.551 0.702 0.711 . 4.380 2.280 0.597 -0.240 -0.825 0.000 0.007 0.001 738 . . . . ARVCF 193 0 326 23 0.0659025787965616 TRUE TRUE ENSG00000104499.7 . BCM GRCh38.p13 chr8 142840512 142840512 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000104499.7 ENST00000220940.2:exon2:c.73+2T>C . . 8q24.3 C3L-02610 . . . . . . . . . 1.4 . . . . . D . . . . . . . . . . . . . T T . . 3.656 25.200 0.943 N . 0.662 6.618 0.387 4.265 0.001 0.066 0.061 0.078 0.063 0.205 2.970 2.970 1.566 0.905 0.660 0.984 0.207 0.142 988 . . . . GML 137 0 296 26 0.0807453416149068 TRUE TRUE ENSG00000117148.8 . BCM GRCh38.p13 chr1 17823335 17823335 + G G A Silent SNP ENST00000375406.2 exon2 c.G327A p.A109A exonic ENSG00000117148.8 . synonymous SNV ENSG00000117148.8:ENST00000375406.2:exon2:c.G327A:p.A109A 1p36.13 C3L-02610 7.588e-05 0 8.676e-05 0 0 6.134e-05 0 0.0003 rs765307312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64861016;OCCURENCE=2(endometrium) ACTL8 114 1 165 17 0.0934065934065934 TRUE TRUE ENSG00000186409.18 . BCM GRCh38.p13 chr1 42653899 42653899 + T T C Silent SNP ENST00000342022.8 exon16 c.T2223C p.S741S exonic ENSG00000186409.18 . synonymous SNV ENSG00000186409.18:ENST00000342022.8:exon16:c.T2223C:p.S741S 1p34.2 C3L-02610 8.241e-06 0 0 0 0 1.499e-05 0 0 rs765865782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC30 341 0 347 37 0.0963541666666667 TRUE NA ENSG00000121440.15 . BCM GRCh38.p13 chr3 73624112 73624112 + G G A Silent SNP ENST00000263666.9 exon1 c.C714T p.P238P exonic ENSG00000121440.15 . synonymous SNV ENSG00000121440.15:ENST00000263666.9:exon1:c.C714T:p.P238P 3p13 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDZRN3 85 0 201 26 0.114537444933921 TRUE NA ENSG00000163530.4 . BCM GRCh38.p13 chr3 109312624 109312624 + G G A Silent SNP ENST00000478945.1 exon3 c.C102T p.D34D exonic ENSG00000163530.4 . synonymous SNV ENSG00000163530.4:ENST00000478945.1:exon3:c.C102T:p.D34D 3q13.13 C3L-02610 5.766e-05 9.61e-05 0.0002 0 0 1.499e-05 0 0.0002 rs572153453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV72117901;OCCURENCE=2(breast),5(large_intestine),1(central_nervous_system),1(skin),2(lung) DPPA2 128 0 152 10 0.0617283950617284 TRUE NA ENSG00000215612.8 . BCM GRCh38.p13 chr4 8867846 8867846 + G G A Silent SNP ENST00000400677.5 exon2 c.C894T p.P298P exonic ENSG00000215612.8 . synonymous SNV ENSG00000215612.8:ENST00000400677.5:exon2:c.C894T:p.P298P 4p16.1 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HMX1 26 0 39 13 0.25 TRUE TRUE ENSG00000172869.14 . BCM GRCh38.p13 chr5 119221024 119221024 + C C T Silent SNP ENST00000311085.8 exon36 c.C8157T p.G2719G exonic ENSG00000172869.14 . synonymous SNV ENSG00000172869.14:ENST00000311085.8:exon36:c.C8157T:p.G2719G 5q23.1 C3L-02610 8.304e-06 0 0 0 0 0 0 6.083e-05 rs751162158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DMXL1 191 0 219 27 0.109756097560976 TRUE NA ENSG00000145908.12 . BCM GRCh38.p13 chr5 150895985 150895985 + G G A Silent SNP ENST00000274599.9 exon6 c.C1254T p.F418F exonic ENSG00000145908.12 . synonymous SNV ENSG00000145908.12:ENST00000274599.9:exon6:c.C1254T:p.F418F 5q33.1 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF300 128 1 199 24 0.10762331838565 TRUE TRUE ENSG00000135074.16 . BCM GRCh38.p13 chr5 157488325 157488325 + C C T Silent SNP ENST00000517905.1 exon21 c.G2490A p.S830S exonic ENSG00000135074.16 . synonymous SNV ENSG00000135074.16:ENST00000517905.1:exon21:c.G2490A:p.S830S 5q33.3 C3L-02610 8.265e-06 0 0 0.0001 0 0 0 0 rs764968777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57427459;OCCURENCE=1(prostate) ADAM19 139 0 271 42 0.134185303514377 TRUE TRUE ENSG00000146411.6 . BCM GRCh38.p13 chr6 134006909 134006909 + G G A Silent SNP ENST00000275230.6 exon3 c.C1470T p.I490I exonic ENSG00000146411.6 . synonymous SNV ENSG00000146411.6:ENST00000275230.6:exon3:c.C1470T:p.I490I 6q23.2 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC2A12 192 0 282 33 0.104761904761905 TRUE TRUE ENSG00000188763.5 . BCM GRCh38.p13 chr7 73434685 73434685 + C C A Silent SNP ENST00000344575.5 exon1 c.C678A p.R226R exonic ENSG00000188763.5 . synonymous SNV ENSG00000188763.5:ENST00000344575.5:exon1:c.C678A:p.R226R 7q11.23 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FZD9 117 0 282 83 0.227397260273973 TRUE TRUE ENSG00000061337.15 . BCM GRCh38.p13 chr8 20252803 20252803 + C C T Silent SNP ENST00000381569.5 exon3 c.G1128A p.A376A exonic ENSG00000061337.15 . synonymous SNV ENSG00000061337.15:ENST00000381569.5:exon3:c.G1128A:p.A376A 8p21.3 C3L-02610 1.866e-05 0 0 0.0001 0 0 0 0.0001 rs772680970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56115797;OCCURENCE=1(liver) LZTS1 8 0 36 5 0.121951219512195 TRUE TRUE ENSG00000160973.8 . BCM GRCh38.p13 chr8 144474891 144474891 + G G A Silent SNP ENST00000377317.5 exon3 c.C445T p.L149L exonic ENSG00000160973.8 . synonymous SNV ENSG00000160973.8:ENST00000377317.5:exon3:c.C445T:p.L149L 8q24.3 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FOXH1 259 1 527 131 0.199088145896657 TRUE TRUE ENSG00000176742.2 . BCM GRCh38.p13 chr11 5199864 5199864 + G G A Silent SNP ENST00000321255.1 exon1 c.C837T p.P279P exonic ENSG00000176742.2 . synonymous SNV ENSG00000176742.2:ENST00000321255.1:exon1:c.C837T:p.P279P 11p15.4 C3L-02610 8.247e-06 0 0 0 0 1.5e-05 0 0 rs142226521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR51V1 186 0 244 28 0.102941176470588 TRUE NA ENSG00000173898.13 . BCM GRCh38.p13 chr11 66689853 66689853 + G G A Silent SNP ENST00000533211.5 exon29 c.C5901T p.I1967I exonic ENSG00000173898.13 . synonymous SNV ENSG00000173898.13:ENST00000533211.5:exon29:c.C5901T:p.I1967I 11q13.2 C3L-02610 3.296e-05 0.0003 0 0 0 1.499e-05 0 0 rs200009167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100018167;OCCURENCE=1(stomach) SPTBN2 450 0 731 221 0.232142857142857 TRUE NA ENSG00000165458.14 . BCM GRCh38.p13 chr11 72231608 72231608 + C C T Silent SNP ENST00000298229.7 exon13 c.C1608T p.N536N exonic ENSG00000165458.14 . synonymous SNV ENSG00000165458.14:ENST00000298229.7:exon13:c.C1608T:p.N536N 11q13.4 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INPPL1 174 0 277 37 0.117834394904459 TRUE TRUE ENSG00000154133.15 . BCM GRCh38.p13 chr11 124895650 124895650 + C C T Silent SNP ENST00000306534.8 exon6 c.G843A p.T281T exonic ENSG00000154133.15 . synonymous SNV ENSG00000154133.15:ENST00000306534.8:exon6:c.G843A:p.T281T 11q24.2 C3L-02610 0.0003 0.0031 8.667e-05 0 0 4.664e-05 0 0.0004 rs138055137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ROBO4 111 0 270 24 0.0816326530612245 TRUE NA ENSG00000126218.12 . BCM GRCh38.p13 chr13 113149265 113149265 + C C T Silent SNP ENST00000375559.8 exon8 c.C1215T p.A405A exonic ENSG00000126218.12 . synonymous SNV ENSG00000126218.12:ENST00000375559.8:exon8:c.C1215T:p.A405A 13q34 C3L-02610 1.662e-05 0 0 0 0 3.035e-05 0 0 rs770904651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . F10 404 0 749 93 0.110451306413302 TRUE NA ENSG00000165762.3 . BCM GRCh38.p13 chr14 19876531 19876531 + T T C Silent SNP ENST00000641885.1 exon2 c.T264C p.G88G exonic ENSG00000165762.3 . synonymous SNV ENSG00000165762.3:ENST00000641885.1:exon2:c.T264C:p.G88G 14q11.2 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR4K2 431 1 621 33 0.0504587155963303 TRUE TRUE ENSG00000015413.9 . BCM GRCh38.p13 chr16 89636305 89636305 + C C T Silent SNP ENST00000393092.7 exon4 c.C279T p.D93D exonic ENSG00000015413.9 . synonymous SNV ENSG00000015413.9:ENST00000393092.7:exon4:c.C279T:p.D93D 16q24.3 C3L-02610 0.0009 0.0001 0 0.0103 0 0 0 0.0009 rs141650009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DPEP1 267 0 524 51 0.088695652173913 TRUE NA ENSG00000132141.14 . BCM GRCh38.p13 chr17 34961277 34961277 + A A G Silent SNP ENST00000314144.10 exon1 c.T117C p.G39G exonic ENSG00000132141.14 . synonymous SNV ENSG00000132141.14:ENST00000314144.10:exon1:c.T117C:p.G39G 17q12 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCT6B 58 1 141 23 0.140243902439024 TRUE TRUE ENSG00000125991.19 . BCM GRCh38.p13 chr20 35556059 35556059 + C C T Silent SNP ENST00000348547.6 exon9 c.C744T p.H248H exonic ENSG00000125991.19 . synonymous SNV ENSG00000125991.19:ENST00000348547.6:exon9:c.C744T:p.H248H 20q11.22 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERGIC3 195 0 256 31 0.10801393728223 TRUE TRUE ENSG00000099954.18 . BCM GRCh38.p13 chr22 17548614 17548614 + G G A Silent SNP ENST00000342247.9 exon18 c.G3387A p.T1129T exonic ENSG00000099954.18 . synonymous SNV ENSG00000099954.18:ENST00000342247.9:exon18:c.G3387A:p.T1129T 22q11.21 C3L-02610 1.725e-05 0 0 0.0001 0 1.555e-05 0 0 rs751868810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CECR2 259 0 406 52 0.11353711790393 TRUE NA ENSG00000100249.4 . BCM GRCh38.p13 chr22 29059009 29059009 + C C T Silent SNP ENST00000216071.4 exon3 c.G606A p.T202T exonic ENSG00000100249.4 . synonymous SNV ENSG00000100249.4:ENST00000216071.4:exon3:c.G606A:p.T202T 22q12.1 C3L-02610 0.0003 0 0.0015 0.0002 0 4.495e-05 0.0011 0.0008 rs776057378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53310737;OCCURENCE=1(endometrium) C22orf31 286 0 389 58 0.129753914988814 TRUE TRUE ENSG00000116132.12 . BCM GRCh38.p13 chr1 170730300 170730300 + G G T Intron SNP NA NA NA NA intronic ENSG00000116132.12 . . . 1q24.2 C3L-02610 . . . . . . . . . 12.16 D T D D . D . D N 0.863 D D D 0.488 0.357 0.852 . . . D T D T 1.996 19.230 0.979 D D 0.684 6.900 0.696 7.676 1.000 0.554 0.588 0.624 0.621 . 5.670 5.670 4.317 1.176 0.676 1.000 1.000 1.000 725 . . . . PRRX1 256 0 334 34 0.0923913043478261 TRUE TRUE ENSG00000179397.18 . BCM GRCh38.p13 chr1 244635486 244635486 + - NA A Intron SNP NA NA NA NA intronic ENSG00000179397.18 . . . 1q44 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CATSPERE NA NA NA NA NA NA NA ENSG00000175899.15 . BCM GRCh38.p13 chr12 9115864 9115864 + G G T 5'UTR SNP NA NA NA NA UTR5 ENSG00000175899.15 ENST00000318602.12:c.-15C>A . . 12p13.31 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . A2M 321 1 449 121 0.212280701754386 TRUE NA ENSG00000229807.12 . BCM GRCh38.p13 chrX 73848459 73848459 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229807.12 . . . Xq13.2 C3L-02610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIST 92 0 93 32 0.256 TRUE NA ENSG00000143674.11 . BCM GRCh38.p13 chr1 233362125 233362125 + C C T Missense_Mutation SNP ENST00000366624.8 exon5 c.C1384T p.R462W exonic ENSG00000143674.11 . nonsynonymous SNV ENSG00000143674.11:ENST00000366624.8:exon5:c.C1384T:p.R462W 1q42.2 C3N-02579 8.667e-06 0.0001 0 0 0 0 0 0 rs149651212 16.19 D D D D D D . T D 0.583 D D D 0.542 . 0.764 1.802 T T D D D D 3.926 26.500 0.999 D D 0.268 3.617 0.127 2.848 1.000 0.675 0.547 0.693 0.568 . 4.770 1.470 0.978 1.026 0.599 0.846 0.081 0.962 909 . . . ID=COSV64046138;OCCURENCE=1(biliary_tract) MAP3K21 347 0 364 181 0.332110091743119 TRUE TRUE ENSG00000134115.13 . BCM GRCh38.p13 chr3 1295661 1295661 + G G A Missense_Mutation SNP ENST00000446702.7 exon6 c.G515A p.R172Q exonic ENSG00000134115.13 . nonsynonymous SNV ENSG00000134115.13:ENST00000446702.7:exon6:c.G515A:p.R172Q 3p26.3 C3N-02579 4.169e-05 9.905e-05 8.78e-05 0 0 0 0 0.0002 rs774492055 13.20 D D P B D D H T D 0.496 D D D 0.336 0.836 0.904 0.020 T T T T D D 3.370 24.300 1.000 D D 0.592 5.843 0.490 5.073 0.626 0.487 0.574 0.574 0.564 . 5.910 5.030 5.581 1.176 0.676 0.998 0.233 0.421 981 Immunoglobulin_subtype;Immunoglobulin_subtype_2;Immunoglobulin-like_domain . . ID=COSV63172416;OCCURENCE=1(large_intestine),1(stomach),1(skin),1(endometrium) CNTN6 226 0 289 67 0.188202247191011 TRUE TRUE ENSG00000135605.13 . BCM GRCh38.p13 chr4 48145561 48145561 + G G A Missense_Mutation SNP ENST00000381501.8 exon13 c.C1100T p.P367L exonic ENSG00000135605.13 . nonsynonymous SNV ENSG00000135605.13:ENST00000381501.8:exon13:c.C1100T:p.P367L 4p12 C3N-02579 . . . . . . . . . 13.20 D T D D N D M T D 0.850 T T D 0.451 0.622 0.857 1.110 D D T T D D 4.078 27.600 0.993 D D 0.505 5.074 0.442 4.670 1.000 0.707 0.725 0.602 0.530 . 5.450 4.620 8.041 1.176 0.618 1.000 0.728 0.268 415 . . . . TEC 219 0 247 50 0.168350168350168 TRUE TRUE ENSG00000158321.18 . BCM GRCh38.p13 chr7 70777139 70777139 + G G A Missense_Mutation SNP ENST00000342771.10 exon14 c.G1969A p.A657T exonic ENSG00000158321.18 . nonsynonymous SNV ENSG00000158321.18:ENST00000342771.10:exon14:c.G1969A:p.A657T 7q11.22 C3N-02579 1.648e-05 0 0 0 0 2.997e-05 0 0 rs750187638 17.20 D D D D D D M T D 0.875 T T D 0.514 . 0.602 1.170 D D D D D D 4.370 31 0.986 D D 0.725 7.484 0.700 7.743 1.000 0.731 0.750 0.702 0.621 . 5.530 4.640 9.476 1.176 0.676 1.000 0.999 0.997 942 . . . . AUTS2 257 0 367 63 0.146511627906977 TRUE NA ENSG00000146910.12 . BCM GRCh38.p13 chr7 155509003 155509003 + G G A Missense_Mutation SNP ENST00000321736.5 exon2 c.C35T p.T12M exonic ENSG00000146910.12 . nonsynonymous SNV ENSG00000146910.12:ENST00000321736.5:exon2:c.C35T:p.T12M 7q36.3 C3N-02579 8.298e-05 0.0010 0 0 0 0 0 0 rs192432169 9.19 D D D D D N . T D 0.464 T T D 0.238 . 0.076 0.385 T T T T D T 3.648 25.200 0.999 D N 0.435 4.571 0.364 4.111 1.000 0.598 0.563 0.596 0.530 . 5.000 5.000 4.306 1.176 0.676 0.957 0.953 0.996 784 Domain_of_unknown_function_DUF3456 . . ID=COSV58786471;OCCURENCE=1(breast),2(large_intestine) CNPY1 141 0 145 36 0.198895027624309 TRUE TRUE ENSG00000164961.16 . BCM GRCh38.p13 chr8 125059413 125059413 + C C T Missense_Mutation SNP ENST00000318410.12 exon13 c.G1651A p.V551I exonic ENSG00000164961.16 . nonsynonymous SNV ENSG00000164961.16:ENST00000318410.12:exon13:c.G1651A:p.V551I 8q24.13 C3N-02579 1.65e-05 0 0 0 0 3.002e-05 0 0 rs374338104 3.19 T T P B N N . D N 0.195 T T T 0.162 . 0.508 0.221 T T T T T D 1.023 11.910 0.762 D N -0.574 1.035 -0.478 1.237 0.999 0.732 0.654 0.744 0.714 . 5.670 1.750 1.529 -0.226 0.594 0.872 0.991 0.998 736 . . . . WASHC5 339 0 403 86 0.175869120654397 TRUE NA ENSG00000136881.11 . BCM GRCh38.p13 chr9 101368185 101368185 + T T A Nonsense_Mutation SNP ENST00000259407.6 exon3 c.A604T p.K202X exonic ENSG00000136881.11 . stopgain ENSG00000136881.11:ENST00000259407.6:exon3:c.A604T:p.K202X 9q31.1 C3N-02579 . . . . . . . . . 2.6 . . . . N A . . . 0.728 . . . . . . . . . D T . . 3.045 23.500 0.965 N N -0.576 1.031 -0.992 0.498 1.000 0.554 0.574 0.618 0.564 . 4.470 -4.890 -3.965 -1.337 -0.153 0.000 0.000 0.000 916 . . . . BAAT 367 0 434 125 0.223613595706619 TRUE TRUE ENSG00000175518.8 . BCM GRCh38.p13 chr11 5515748 5515748 + G G A Missense_Mutation SNP ENST00000380184.2 exon1 c.C694T p.L232F exonic ENSG00000175518.8 . nonsynonymous SNV ENSG00000175518.8:ENST00000380184.2:exon1:c.C694T:p.L232F 11p15.4 C3N-02579 8.242e-06 9.641e-05 0 0 0 0 0 0 rs748666024 3.20 T T B B N D M T N 0.188 T T T 0.101 0.542 0.341 0.015 T T T T T T 1.580 16.240 0.998 D N -0.386 1.413 -0.324 1.516 0.925 0.554 0.588 0.602 0.621 . 5.050 3.150 3.762 1.172 0.671 1.000 0.991 0.454 697 . . . . UBQLNL 200 0 225 68 0.232081911262799 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-02579 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 235 0 226 75 0.249169435215947 TRUE TRUE ENSG00000187537.13 . BCM GRCh38.p13 chr14 19413400 19413400 + G G C Missense_Mutation SNP ENST00000547848.5 exon9 c.C1363G p.P455A exonic ENSG00000187537.13 . nonsynonymous SNV ENSG00000187537.13:ENST00000547848.5:exon9:c.C1363G:p.P455A 14q11.2 C3N-02579 . . . . . . . . . 2.16 D D . . . N . T N 0.065 T T T 0.094 0.306 0.043 . T T T T T T 0.605 7.558 0.805 N N -1.023 0.380 -1.241 0.251 0.000 0.554 0.588 0.574 0.564 . 1.530 -1.330 -0.401 -0.066 0.318 0.000 0.001 0.009 994 . . . . POTEG 172 0 158 16 0.0919540229885057 NA TRUE ENSG00000009830.11 . BCM GRCh38.p13 chr14 77280426 77280426 + G G A Missense_Mutation SNP ENST00000261534.8 exon16 c.C1691T p.T564M exonic ENSG00000009830.11 . nonsynonymous SNV ENSG00000009830.11:ENST00000261534.8:exon16:c.C1691T:p.T564M 14q24.3 C3N-02579 0.0001 9.617e-05 0.0005 0.0001 0 8.993e-05 0 6.066e-05 rs142445941 18.20 D D D D D D M D D 0.595 D D D 0.620 . 0.963 0.459 T D T D D D 4.076 27.600 0.999 D D 0.723 7.456 0.715 8.041 1.000 0.706 0.709 0.710 0.714 . 5.490 5.490 5.799 1.176 0.676 1.000 0.941 0.945 738 Protein_O-mannosyl-transferase,_C-terminal_four_TM_domain . . . POMT2 485 0 562 136 0.194842406876791 TRUE NA ENSG00000161992.6 . BCM GRCh38.p13 chr16 563925 563925 + G G A Missense_Mutation SNP ENST00000409413.4 exon2 c.G631A p.V211I exonic ENSG00000161992.6 . nonsynonymous SNV ENSG00000161992.6:ENST00000409413.4:exon2:c.G631A:p.V211I 16p13.3 C3N-02579 0.0001 0 0 0.0004 0 4.958e-05 0 0.0002 rs747782968 1.19 T T P B N N L T N 0.139 T T T 0.038 . 0.048 0.128 . T T T T T 0.492 6.418 0.843 D N 0.077 2.798 0.093 2.706 0.997 0.581 0.627 0.576 0.563 . 4.530 3.500 0.993 -0.180 -0.108 0.655 0.264 0.347 783 . . . . PRR35 162 0 172 51 0.228699551569507 TRUE NA 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-02579 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 645 1 454 171 0.2736 TRUE TRUE ENSG00000132141.14 . BCM GRCh38.p13 chr17 34930964 34930964 + C C T Missense_Mutation SNP ENST00000314144.10 exon12 c.G1435A p.V479I exonic ENSG00000132141.14 . nonsynonymous SNV ENSG00000132141.14:ENST00000314144.10:exon12:c.G1435A:p.V479I 17q12 C3N-02579 3.3e-05 0 8.691e-05 0 0 3e-05 0 6.064e-05 rs779683070 2.20 T T B B N D N T N 0.162 T T D 0.154 0.533 0.235 0.063 T T T T T T 1.150 13.220 0.736 N N -0.838 0.602 -0.668 0.947 0.000 0.638 0.670 0.653 0.586 . 4.850 -0.070 1.588 0.204 -0.169 0.938 1.000 0.963 344 . . . ID=COSV58490240;OCCURENCE=1(kidney) CCT6B 131 0 211 33 0.135245901639344 TRUE TRUE ENSG00000108797.12 . BCM GRCh38.p13 chr17 42697706 42697708 + GTT GTT - In_Frame_Del DEL ENST00000264638.9 exon22 c.3721_3723del p.V1241del exonic ENSG00000108797.12 . nonframeshift deletion ENSG00000108797.12:ENST00000264638.9:exon22:c.3721_3723del:p.V1241del 17q21.2 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTNAP1 525 0 570 102 0.151785714285714 TRUE TRUE ENSG00000076662.10 . BCM GRCh38.p13 chr19 10333915 10333920 + GGCAGA GGCAGA - In_Frame_Del DEL ENST00000160262.10 exon7 c.1581_1586del p.P529_L530del exonic ENSG00000076662.10 . nonframeshift deletion ENSG00000076662.10:ENST00000160262.10:exon7:c.1581_1586del:p.P529_L530del 19p13.2 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ICAM3 223 0 263 44 0.143322475570033 TRUE TRUE ENSG00000179846.9 . BCM GRCh38.p13 chr19 45152057 45152057 + G G A Missense_Mutation SNP ENST00000317951.5 exon3 c.C1714T p.R572C exonic ENSG00000179846.9 . nonsynonymous SNV ENSG00000179846.9:ENST00000317951.5:exon3:c.C1714T:p.R572C 19q13.32 C3N-02579 . . . . . . . . . 1.18 . D P B N N N T . 0.126 T T T 0.065 0.299 0.427 1.452 T T T T T T 1.578 16.230 0.839 N N -0.494 1.189 -0.540 1.139 1.000 0.598 0.551 0.607 0.639 . 4.670 3.630 0.492 1.054 0.526 0.000 0.087 0.020 929 . . . . NKPD1 341 0 407 105 0.205078125 TRUE TRUE ENSG00000104884.16 . BCM GRCh38.p13 chr19 45355719 45355719 + G G A Missense_Mutation SNP ENST00000391945.10 exon16 c.C1489T p.R497C exonic ENSG00000104884.16 . nonsynonymous SNV ENSG00000104884.16:ENST00000391945.10:exon16:c.C1489T:p.R497C 19q13.32 C3N-02579 4.124e-05 0 8.649e-05 0.0002 0 3e-05 0 0 rs199738290 16.20 D D P B D D M D D 0.864 T T D 0.673 . 0.899 0.319 D D D D D D 3.568 24.900 0.999 D D 0.207 3.332 0.281 3.607 0.109 0.707 0.702 0.698 0.714 . 5.680 4.640 3.341 0.227 0.676 1.000 0.553 0.995 911 . . . . ERCC2 466 1 530 80 0.131147540983607 TRUE TRUE ENSG00000105053.11 . BCM GRCh38.p13 chr19 49979146 49979146 + T T G Missense_Mutation SNP ENST00000316763.8 exon14 c.A1373C p.Q458P exonic ENSG00000105053.11 . nonsynonymous SNV ENSG00000105053.11:ENST00000316763.8:exon14:c.A1373C:p.Q458P 19q13.33 C3N-02579 . . . . . . . . . 5.20 D D P B N D M T D 0.529 T T T 0.118 0.420 0.336 0.326 T T T T T T 1.925 18.680 0.972 N N -0.396 1.391 -0.394 1.383 0.001 0.706 0.725 0.710 0.711 . 4.820 3.780 0.821 1.126 0.665 0.013 0.372 0.236 687 Protein_kinase_domain . . . VRK3 156 0 194 46 0.191666666666667 TRUE TRUE ENSG00000198959.12 . BCM GRCh38.p13 chr20 38132440 38132440 + T T A Missense_Mutation SNP ENST00000361475.7 exon11 c.A1676T p.N559I exonic ENSG00000198959.12 . nonsynonymous SNV ENSG00000198959.12:ENST00000361475.7:exon11:c.A1676T:p.N559I 20q11.23 C3N-02579 . . . . . . . . . 13.20 D D D D D D M T D 0.893 T T D 0.406 0.641 0.596 0.950 T T D T D T 3.974 26.800 0.993 D D 0.549 5.438 0.473 4.923 1.000 0.722 0.588 0.604 0.735 . 4.670 4.670 4.087 1.049 0.665 1.000 0.954 0.915 865 Transglutaminase,_C-terminal . . . TGM2 450 0 556 179 0.243537414965986 TRUE TRUE ENSG00000234409.7 . BCM GRCh38.p13 chr22 20148649 20148649 + G G T Missense_Mutation SNP ENST00000439765.4 exon9 c.C1174A p.L392M exonic ENSG00000234409.7 . nonsynonymous SNV ENSG00000234409.7:ENST00000439765.4:exon9:c.C1174A:p.L392M 22q11.21 C3N-02579 . . . . . . . . . 3.9 . D . . . . . . . 0.525 . . . . . 0.085 . T T T T D T 3.411 24.400 0.994 D N -0.353 1.489 -0.322 1.520 0.959 0.660 0.514 0.576 0.592 . 4.460 1.090 1.691 0.231 0.654 1.000 0.997 0.961 798 . . . . CCDC188 184 0 240 65 0.213114754098361 TRUE TRUE ENSG00000184571.13 . BCM GRCh38.p13 chr22 24754168 24754168 + C C T Missense_Mutation SNP ENST00000332271.9 exon8 c.G823A p.E275K exonic ENSG00000184571.13 . nonsynonymous SNV ENSG00000184571.13:ENST00000332271.9:exon8:c.G823A:p.E275K 22q11.23 C3N-02579 . . . . . . . . rs775556342 10.20 D D D D U D M T D 0.623 T T T 0.174 . 0.393 0.572 T T T T D D 3.249 24.000 0.999 D N 0.315 3.856 0.101 2.741 1.000 0.487 0.574 0.547 0.527 . 2.420 2.420 4.911 0.697 0.449 1.000 0.094 0.051 483 . . . ID=COSV59993917;OCCURENCE=1(large_intestine),2(skin) PIWIL3 155 0 229 63 0.215753424657534 TRUE TRUE ENSG00000123165.8 . BCM GRCh38.p13 chrX 128052112 128052112 + C C T Missense_Mutation SNP ENST00000371124.4 exon1 c.G95A p.R32H exonic ENSG00000123165.8 . nonsynonymous SNV ENSG00000123165.8:ENST00000371124.4:exon1:c.G95A:p.R32H Xq25 C3N-02579 3.444e-05 0.0001 0.0001 0.0002 0 0 0 0 rs185459023 11.19 D D D D N N M D D 0.163 D D D 0.305 . 0.942 0.028 T D T T T T 0.829 9.682 0.988 N . . . . . 0.000 . . . . . 3.760 -1.180 1.073 -1.779 -1.973 0.142 0.000 0.000 900 . . . ID=COSV100947479;OCCURENCE=1(stomach),1(lung) ACTRT1 122 1 190 29 0.132420091324201 TRUE NA ENSG00000144057.15 . BCM GRCh38.p13 chr2 106843177 106843177 + G G A Silent SNP ENST00000409382.7 exon2 c.C801T p.T267T exonic ENSG00000144057.15 . synonymous SNV ENSG00000144057.15:ENST00000409382.7:exon2:c.C801T:p.T267T 2q12.3 C3N-02579 9.156e-05 0 0 0 0 0.0002 0 0 rs559643382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ST6GAL2 103 0 142 44 0.236559139784946 TRUE NA ENSG00000187054.15 . BCM GRCh38.p13 chr4 67929938 67929938 + A A G Silent SNP ENST00000334830.11 exon5 c.T432C p.N144N exonic ENSG00000187054.15 . synonymous SNV ENSG00000187054.15:ENST00000334830.11:exon5:c.T432C:p.N144N 4q13.2 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMPRSS11A 95 0 116 22 0.159420289855072 TRUE TRUE ENSG00000138650.9 . BCM GRCh38.p13 chr4 133151289 133151289 + T T A Silent SNP ENST00000264360.7 exon1 c.T1149A p.T383T exonic ENSG00000138650.9 . synonymous SNV ENSG00000138650.9:ENST00000264360.7:exon1:c.T1149A:p.T383T 4q28.3 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDH10 205 0 289 50 0.147492625368732 TRUE TRUE ENSG00000112852.7 . BCM GRCh38.p13 chr5 141095885 141095885 + C C A Silent SNP ENST00000194155.7 exon1 c.C1095A p.T365T exonic ENSG00000112852.7 . synonymous SNV ENSG00000112852.7:ENST00000194155.7:exon1:c.C1095A:p.T365T 5q31.3 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHB2 209 0 229 83 0.266025641025641 TRUE TRUE ENSG00000111912.20 . BCM GRCh38.p13 chr6 125885299 125885299 + C C T Silent SNP ENST00000392477.7 exon8 c.C840T p.L280L exonic ENSG00000111912.20 . synonymous SNV ENSG00000111912.20:ENST00000392477.7:exon8:c.C840T:p.L280L 6q22.32 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCOA7 118 0 107 42 0.281879194630872 TRUE TRUE ENSG00000164941.14 . BCM GRCh38.p13 chr8 94871902 94871902 + T T C Silent SNP ENST00000523731.6 exon21 c.T2433C p.F811F exonic ENSG00000164941.14 . synonymous SNV ENSG00000164941.14:ENST00000523731.6:exon21:c.T2433C:p.F811F 8q22.1 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INTS8 146 0 197 49 0.199186991869919 TRUE TRUE ENSG00000185187.13 . BCM GRCh38.p13 chr11 407115 407115 + G G T Silent SNP ENST00000431843.7 exon7 c.C675A p.I225I exonic ENSG00000185187.13 . synonymous SNV ENSG00000185187.13:ENST00000431843.7:exon7:c.C675A:p.I225I 11p15.5 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIGIRR 199 0 277 72 0.206303724928367 TRUE TRUE ENSG00000135452.10 . BCM GRCh38.p13 chr12 57745756 57745756 + G G A Silent SNP ENST00000257910.8 exon2 c.G75A p.L25L exonic ENSG00000135452.10 . synonymous SNV ENSG00000135452.10:ENST00000257910.8:exon2:c.G75A:p.L25L 12q14.1 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TSPAN31 165 0 196 37 0.158798283261803 TRUE TRUE ENSG00000197838.5 . BCM GRCh38.p13 chr19 41091905 41091905 + G G A Silent SNP ENST00000330436.4 exon5 c.G828A p.Q276Q exonic ENSG00000197838.5 . synonymous SNV ENSG00000197838.5:ENST00000330436.4:exon5:c.G828A:p.Q276Q 19q13.2 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYP2A13 134 0 152 36 0.191489361702128 NA TRUE ENSG00000105287.12 . BCM GRCh38.p13 chr19 46704575 46704575 + G G A Silent SNP ENST00000433867.5 exon5 c.C586T p.L196L exonic ENSG00000105287.12 . synonymous SNV ENSG00000105287.12:ENST00000433867.5:exon5:c.C586T:p.L196L 19q13.32 C3N-02579 3.317e-05 0 8.651e-05 0 0 4.527e-05 0 0 rs747367197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKD2 225 0 265 45 0.145161290322581 TRUE NA ENSG00000142235.11 . BCM GRCh38.p13 chr19 48510120 48510120 + C C T Silent SNP ENST00000600059.5 exon3 c.G264A p.A88A exonic ENSG00000142235.11 . synonymous SNV ENSG00000142235.11:ENST00000600059.5:exon3:c.G264A:p.A88A 19q13.33 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54311884;OCCURENCE=1(central_nervous_system),1(skin) LMTK3 149 0 212 38 0.152 TRUE TRUE ENSG00000183579.16 . BCM GRCh38.p13 chr22 28987168 28987168 + G G A Silent SNP ENST00000544604.7 exon2 c.G393A p.L131L exonic ENSG00000183579.16 . synonymous SNV ENSG00000183579.16:ENST00000544604.7:exon2:c.G393A:p.L131L 22q12.1 C3N-02579 1.658e-05 0 0.0002 0 0 0 0 0 rs746248781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNRF3 92 0 164 35 0.175879396984925 TRUE NA ENSG00000120910.14 . BCM GRCh38.p13 chr8 22523643 22523643 + A A T Intron SNP NA NA NA NA intronic ENSG00000120910.14 . . . 8p21.3 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP3CC 108 0 126 28 0.181818181818182 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65502756 65502756 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 100 1 151 10 0.062111801242236 TRUE NA ENSG00000139915.21 . BCM GRCh38.p13 chr14 46871859 46871859 + G G - Intron SNP NA NA NA NA intronic ENSG00000139915.21 . . . 14q21.3 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MDGA2 94 0 120 26 0.178082191780822 TRUE NA ENSG00000286759.1 . BCM GRCh38.p13 chr16 81160850 81160850 + G G T IGR SNP NA NA NA NA intergenic ENSG00000286759.1;ENSG00000166473.17 dist=6874;dist=9439 . . 16q23.2 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092718.9 374 1 375 99 0.208860759493671 TRUE NA ENSG00000206775.1 . BCM GRCh38.p13 chr19 3982564 3982564 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000206775.1 . . . 19p13.3 C3N-02579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNORD37 134 1 135 22 0.140127388535032 TRUE NA ENSG00000116031.9 . BCM GRCh38.p13 chr2 70833696 70833696 + C C T Missense_Mutation SNP ENST00000410009.5 exon3 c.G515A p.R172Q exonic ENSG00000116031.9 . nonsynonymous SNV ENSG00000116031.9:ENST00000410009.5:exon3:c.G515A:p.R172Q 2p13.3 C3N-03000 0.0004 0 0 0.0001 0 1.535e-05 0 0.0029 rs567546839 0.19 T T B B N N N T N 0.070 T T . 0.007 0.401 0.170 0.160 T T T T T T 0.336 4.703 0.581 N N -1.529 0.073 -1.564 0.086 0.117 0.497 0.590 0.547 0.542 . 4.120 -3.860 -0.555 -1.016 -0.224 0.000 0.001 0.003 877 . . . ID=COSV69652518;OCCURENCE=1(liver),1(central_nervous_system) CD207 99 0 96 8 0.0769230769230769 TRUE TRUE ENSG00000240303.8 . BCM GRCh38.p13 chr3 132642132 132642132 + C C T Missense_Mutation SNP ENST00000264990.11 exon4 c.G377A p.G126D exonic ENSG00000240303.8 . nonsynonymous SNV ENSG00000240303.8:ENST00000264990.11:exon4:c.G377A:p.G126D 3q22.1 C3N-03000 . . . . . . . . . 16.18 D D D D . D H T D 0.967 D D D 0.638 0.944 0.915 0.739 . T D D D D 4.421 31 0.999 D D 1.049 15.527 0.941 15.603 1.000 0.706 0.710 0.653 0.759 . 5.490 5.490 7.058 1.026 0.599 1.000 1.000 0.996 856 Aminoglycoside_phosphotransferase . . . ACAD11 82 0 41 11 0.211538461538462 TRUE TRUE ENSG00000284862.3 . BCM GRCh38.p13 chr3 180642006 180642006 + G G A Missense_Mutation SNP ENST00000476379.6 exon13 c.C1861T p.R621W exonic ENSG00000284862.3 . nonsynonymous SNV ENSG00000284862.3:ENST00000476379.6:exon13:c.C1861T:p.R621W 3q26.33 C3N-03000 2.506e-05 0 8.658e-05 0 0 3.016e-05 0 0 rs771462228 12.19 D D D D D D M . D 0.849 T T D 0.401 . 0.520 0.351 T T T D T T 3.868 26.200 0.999 D D 0.435 4.566 0.325 3.864 0.007 0.554 0.588 0.618 0.564 . 4.900 1.760 1.272 1.155 0.618 1.000 0.972 0.998 552 . . . ID=COSV56484104;OCCURENCE=1(soft_tissue) CCDC39 56 0 33 4 0.108108108108108 TRUE TRUE ENSG00000197410.14 . BCM GRCh38.p13 chr4 154234724 154234724 + G G A Missense_Mutation SNP ENST00000357232.10 exon20 c.C9928T p.R3310C exonic ENSG00000197410.14 . nonsynonymous SNV ENSG00000197410.14:ENST00000357232.10:exon20:c.C9928T:p.R3310C 4q31.3 C3N-03000 2.473e-05 0 0.0002 0 0 1.5e-05 0 0 rs759791153 2.11 . . . . N D . . . . T T T 0.196 . . 0.100 T . T T D . 3.328 24.200 0.995 N N 0.413 4.428 0.377 4.198 0.098 0.487 0.574 0.550 0.564 . 5.930 5.930 2.420 1.176 0.676 0.052 0.444 0.966 745 . . . ID=COSV61767417;OCCURENCE=1(pancreas),1(prostate) DCHS2 119 0 83 20 0.194174757281553 TRUE TRUE ENSG00000204963.6 . BCM GRCh38.p13 chr5 140835917 140835917 + G G A Missense_Mutation SNP ENST00000525929.2 exon1 c.G1534A p.A512T exonic ENSG00000204963.6 . nonsynonymous SNV ENSG00000204963.6:ENST00000525929.2:exon1:c.G1534A:p.A512T 5q31.3 C3N-03000 . . . . . . . . . 5.19 D D P P U D N T D 0.277 T T T 0.062 0.373 0.605 . . T T T D T 3.261 24.000 0.996 N N -0.282 1.659 -0.351 1.462 0.000 0.554 0.574 0.409 0.568 . 4.010 1.990 -0.740 0.982 0.498 0.000 1.000 0.947 31 Cadherin-like . . . PCDHA7 930 0 718 69 0.0876747141041931 NA TRUE ENSG00000248383.4 . BCM GRCh38.p13 chr5 140929090 140929090 + C C G Nonsense_Mutation SNP ENST00000253807.2 exon1 c.C2198G p.S733X exonic ENSG00000248383.4 . stopgain ENSG00000248383.4:ENST00000253807.2:exon1:c.C2198G:p.S733X 5q31.3 C3N-03000 . . . . . . . . . 3.5 . . . . . D . . . 0.055 . . . . . . . . . D D . . 5.829 35 0.980 N N 0.160 3.130 -0.170 1.858 0.018 0.653 0.588 0.676 0.530 . 5.950 -0.875 0.037 0.126 0.599 0.001 0.977 0.982 60 Cadherin,_cytoplasmic_C-terminal_domain . . . PCDHAC1 223 0 138 22 0.1375 TRUE TRUE ENSG00000145990.11 . BCM GRCh38.p13 chr6 13365165 13365165 + C C A Missense_Mutation SNP ENST00000379287.4 exon2 c.G751T p.V251L exonic ENSG00000145990.11 . nonsynonymous SNV ENSG00000145990.11:ENST00000379287.4:exon2:c.G751T:p.V251L 6p24.1 C3N-03000 . . . . . . . . . 6.20 T T B B D D L T N 0.409 T T T 0.122 0.750 0.587 0.990 T T T T D D 2.436 22.200 0.994 D D 0.114 2.942 0.300 3.720 1.000 0.672 0.702 0.616 0.636 . 5.730 5.730 4.994 1.026 0.594 1.000 0.997 0.987 866 . . . . GFOD1 369 0 234 35 0.130111524163569 TRUE TRUE ENSG00000204560.10 . BCM GRCh38.p13 chr6 30660142 30660142 + G G C Missense_Mutation SNP ENST00000376442.8 exon10 c.C1645G p.L549V exonic ENSG00000204560.10 . nonsynonymous SNV ENSG00000204560.10:ENST00000376442.8:exon10:c.C1645G:p.L549V 6p21.33 C3N-03000 . . . . . . . . . 7.19 D D P B D D N T D 0.274 T T T 0.232 0.673 0.453 0.603 T T T T D . 2.064 19.750 0.995 D N -0.212 1.844 -0.174 1.850 1.000 0.707 0.702 0.725 0.714 . 4.900 3.060 0.323 0.222 0.676 0.088 1.000 0.998 856 Helicase_superfamily_1/2,_ATP-binding_domain;DEAD/DEAH_box_helicase_domain . . . DHX16 41 0 29 5 0.147058823529412 TRUE TRUE ENSG00000064999.15 . BCM GRCh38.p13 chr6 35017795 35017795 + A A T Missense_Mutation SNP ENST00000360359.5 exon11 c.A1746T p.E582D exonic ENSG00000064999.15 . nonsynonymous SNV ENSG00000064999.15:ENST00000360359.5:exon11:c.A1746T:p.E582D 6p21.31 C3N-03000 . . . . . . . . . 2.20 T T B B N D L T N 0.076 T T T 0.108 0.064 0.252 0.298 T T T T T T 1.635 16.600 0.979 D N -0.662 0.878 -0.511 1.183 1.000 0.626 0.654 0.805 0.373 . 5.140 1.220 0.823 0.230 0.756 0.992 0.800 0.974 409 . . . . ANKS1A 520 0 432 40 0.0847457627118644 TRUE TRUE ENSG00000197753.11 . BCM GRCh38.p13 chr6 35814606 35814606 + G G A Missense_Mutation SNP ENST00000360215.3 exon2 c.G473A p.R158Q exonic ENSG00000197753.11 . nonsynonymous SNV ENSG00000197753.11:ENST00000360215.3:exon2:c.G473A:p.R158Q 6p21.31 C3N-03000 8.244e-06 0 0 0 0 0 0 6.056e-05 rs566829909 6.19 T D B B D D . T N 0.430 T T D 0.170 0.766 0.584 0.510 T T T T T D 2.792 23.000 0.999 D N 0.027 2.609 0.169 3.037 0.466 0.554 0.588 0.547 0.567 . 5.390 4.400 3.402 1.176 0.676 1.000 0.999 0.980 485 . . . ID=COSV104420417;OCCURENCE=1(large_intestine) LHFPL5 507 0 363 69 0.159722222222222 TRUE NA ENSG00000074706.13 . BCM GRCh38.p13 chr6 154212804 154212804 + G G A Missense_Mutation SNP ENST00000265198.8 exon9 c.C500T p.P167L exonic ENSG00000074706.13;ENSG00000288520.1 . nonsynonymous SNV ENSG00000074706.13:ENST00000265198.8:exon9:c.C500T:p.P167L,ENSG00000288520.1:ENST00000673182.1:exon19:c.C1886T:p.P629L 6q25.2 C3N-03000 . . . . . . . . . 7.20 D D P P D N M T D 0.419 T T T 0.116 0.331 0.168 0.779 T T T T D D 2.484 22.400 0.997 N N 0.094 2.863 0.013 2.405 0.073 0.554 0.546 0.618 0.564 . 5.930 4.160 3.511 1.176 0.676 0.980 0.164 0.867 944 . . . . IPCEF1 121 0 107 7 0.0614035087719298 TRUE TRUE ENSG00000104213.13 . BCM GRCh38.p13 chr8 17642770 17642770 + C C A Missense_Mutation SNP ENST00000251630.11 exon6 c.C1097A p.T366N exonic ENSG00000104213.13 . nonsynonymous SNV ENSG00000104213.13:ENST00000251630.11:exon6:c.C1097A:p.T366N 8p22 C3N-03000 . . . . . . . . . 12.20 D D D D D D M T N 0.782 T T D 0.322 0.542 0.841 0.027 T T T T D D 3.622 25.100 0.992 D D 0.723 7.447 0.687 7.510 1.000 0.672 0.588 0.653 0.711 . 5.420 5.420 7.186 0.947 0.599 1.000 0.914 0.924 731 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . PDGFRL 210 0 154 23 0.129943502824859 TRUE TRUE ENSG00000095303.17 . BCM GRCh38.p13 chr9 122378453 122378453 + C C T Missense_Mutation SNP ENST00000362012.7 exon4 c.C232T p.R78W exonic ENSG00000095303.17 . nonsynonymous SNV ENSG00000095303.17:ENST00000362012.7:exon4:c.C232T:p.R78W 9q33.2 C3N-03000 0.0021 0.0003 0.0203 0 0 0.0001 0.0011 0.0005 rs181947887 11.19 D D D P D D M T D 0.571 T T . 0.420 . 0.903 0.724 T T T D T D 3.375 24.300 0.999 D D 0.306 3.813 0.287 3.642 1.000 0.707 0.588 0.659 0.714 . 5.680 5.680 0.979 1.026 0.599 0.000 0.943 0.850 878 . . . ID=COSV56292653;OCCURENCE=1(central_nervous_system),1(ovary) PTGS1 237 0 214 14 0.0614035087719298 TRUE TRUE ENSG00000119922.10 . BCM GRCh38.p13 chr10 89307062 89307062 + C C T Missense_Mutation SNP ENST00000371826.4 exon2 c.C1106T p.A369V exonic ENSG00000119922.10 . nonsynonymous SNV ENSG00000119922.10:ENST00000371826.4:exon2:c.C1106T:p.A369V 10q23.31 C3N-03000 8.286e-06 0 0 0 0 1.499e-05 0 0 rs768227773 0.20 T T B B U N N T N 0.042 T T T 0.013 0.209 0.173 0.180 T T T T T T -0.500 0.119 0.742 N N -1.666 0.042 -1.803 0.033 1.000 0.707 0.725 0.547 0.616 . 4.580 -8.230 -0.749 -1.509 -2.027 0.000 0.000 0.000 818 . . . ID=COSV51079533;OCCURENCE=2(large_intestine),1(haematopoietic_and_lymphoid_tissue) IFIT2 271 0 246 16 0.0610687022900763 TRUE TRUE ENSG00000166169.17 . BCM GRCh38.p13 chr10 101579722 101579722 + G G A Missense_Mutation SNP ENST00000370162.8 exon9 c.C1459T p.R487W exonic ENSG00000166169.17 . nonsynonymous SNV ENSG00000166169.17:ENST00000370162.8:exon9:c.C1459T:p.R487W 10q24.32 C3N-03000 3.314e-05 0 0 0 0 3.019e-05 0 0.0001 rs113383598 17.20 D D D D D D H T D 0.933 D T D 0.588 . 0.739 0.699 T D D D D D 4.248 29.100 0.999 D D 0.859 10.049 0.748 8.759 1.000 0.707 0.702 0.702 0.714 . 5.250 4.340 5.205 1.176 0.676 1.000 0.993 0.927 372 DNA-directed_DNA_polymerase_X;DNA_polymerase_beta,_palm_domain . . ID=COSV54574776;OCCURENCE=1(stomach) POLL 398 0 297 25 0.077639751552795 TRUE TRUE ENSG00000148843.15 . BCM GRCh38.p13 chr10 103443969 103443969 + G G A Missense_Mutation SNP ENST00000369797.8 exon34 c.G5179A p.V1727M exonic ENSG00000148843.15 . nonsynonymous SNV ENSG00000148843.15:ENST00000369797.8:exon34:c.G5179A:p.V1727M 10q24.33 C3N-03000 . . . . . . . . . 13.20 D D D D D D M T D 0.671 T T T 0.326 0.342 0.600 0.788 T T D T D D 4.290 29.500 0.999 D D 0.702 7.142 0.677 7.346 1.000 0.646 0.702 0.698 0.723 . 5.670 4.760 8.029 1.176 0.676 1.000 0.994 0.906 228 Tetratricopeptide_repeat-containing_domain;Suppressor_of_forked . . . PDCD11 252 0 238 14 0.0555555555555556 TRUE NA ENSG00000175229.7 . BCM GRCh38.p13 chr11 66043412 66043412 + G G A Missense_Mutation SNP ENST00000312006.5 exon3 c.C391T p.R131C exonic ENSG00000175229.7 . nonsynonymous SNV ENSG00000175229.7:ENST00000312006.5:exon3:c.C391T:p.R131C 11q13.1 C3N-03000 1.967e-05 0 0 0 0 3.62e-05 0 0 rs150888474 16.20 D D D D D D H T D 0.959 T T D 0.600 . 0.829 2.081 D T D D D D 4.566 32 0.999 D D 0.903 11.127 0.820 10.756 1.000 0.696 0.547 0.723 0.542 . 4.620 4.620 9.922 1.172 0.676 1.000 1.000 0.985 199 . . . ID=COSV61748859;OCCURENCE=1(oesophagus) GAL3ST3 337 0 322 30 0.0852272727272727 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-03000 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 281 0 190 73 0.277566539923954 TRUE TRUE ENSG00000184613.10 . BCM GRCh38.p13 chr12 44665573 44665573 + C C T Missense_Mutation SNP ENST00000429094.6 exon13 c.G1355A p.R452H exonic ENSG00000184613.10 . nonsynonymous SNV ENSG00000184613.10:ENST00000429094.6:exon13:c.G1355A:p.R452H 12q12 C3N-03000 1.65e-05 0 8.649e-05 0 0 1.501e-05 0 0 rs750566671 9.20 T T D P D D N D N 0.570 T T D 0.597 0.488 0.731 0.200 T T T D T D 2.037 19.540 0.319 D D 0.145 3.069 0.281 3.610 0.832 0.706 0.574 0.710 0.564 . 5.280 4.380 4.728 1.026 0.599 1.000 0.996 0.956 799 EGF-like_domain;EGF-like_calcium-binding_domain . . ID=COSV61570866;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) NELL2 144 0 92 8 0.08 TRUE TRUE ENSG00000060709.15 . BCM GRCh38.p13 chr12 130414226 130414226 + G G A Missense_Mutation SNP ENST00000261655.8 exon14 c.C2551T p.R851W exonic ENSG00000060709.15 . nonsynonymous SNV ENSG00000060709.15:ENST00000261655.8:exon14:c.C2551T:p.R851W 12q24.33 C3N-03000 8.264e-06 0 8.642e-05 0 0 0 0 0 rs769276085 16.20 D D D D D D H T D 0.918 T T D 0.431 0.599 0.642 0.978 T D D D D D 4.240 29.000 0.999 D D 0.839 9.585 0.736 8.483 1.000 0.638 0.670 0.489 0.564 . 4.370 4.370 6.509 1.176 0.676 1.000 0.899 0.925 994 SH3_domain . . ID=COSV55478173;OCCURENCE=2(pancreas) RIMBP2 153 0 84 22 0.207547169811321 TRUE TRUE ENSG00000102805.16 . BCM GRCh38.p13 chr13 77000944 77000944 + G G A Missense_Mutation SNP ENST00000377453.9 exon4 c.G1052A p.R351K exonic ENSG00000102805.16 . nonsynonymous SNV ENSG00000102805.16:ENST00000377453.9:exon4:c.G1052A:p.R351K 13q22.3 C3N-03000 . . . . . . . . . 0.16 . . B B N N L . . . T T T 0.029 0.409 0.231 0.184 T T T T T T -0.084 0.897 0.445 N N -1.742 0.030 -1.745 0.043 1.000 0.732 0.744 0.670 0.728 . 4.930 -2.320 0.191 -0.675 -0.782 0.003 0.022 0.589 899 . . . . CLN5 97 0 103 7 0.0636363636363636 TRUE TRUE ENSG00000070729.14 . BCM GRCh38.p13 chr16 57950483 57950483 + G G A Missense_Mutation SNP ENST00000251102.13 exon13 c.C932T p.P311L exonic ENSG00000070729.14 . nonsynonymous SNV ENSG00000070729.14:ENST00000251102.13:exon13:c.C932T:p.P311L 16q21 C3N-03000 0.0001 0 0 0 0.0002 0.0001 0 0.0003 rs369817749 10.20 D D D P N N L D D 0.465 D D D 0.395 . 0.870 0.340 T T T T D T 2.595 22.600 0.998 D N 0.057 2.720 -0.006 2.337 0.999 0.487 0.574 0.547 0.542 . 4.440 4.440 2.747 0.221 -0.111 0.879 0.004 0.046 824 . . . ID=COSV51897283;OCCURENCE=1(kidney) CNGB1 381 0 355 23 0.0608465608465608 TRUE TRUE ENSG00000171724.3 . BCM GRCh38.p13 chr16 77817036 77817036 + G G A Missense_Mutation SNP ENST00000302536.3 exon2 c.G349A p.V117M exonic ENSG00000171724.3 . nonsynonymous SNV ENSG00000171724.3:ENST00000302536.3:exon2:c.G349A:p.V117M 16q23.1 C3N-03000 . . . . . . . . rs1035718136 12.20 D D D P D D H T D 0.567 T T D 0.339 0.848 0.446 0.507 T T T T D D 3.943 26.600 0.999 D D 0.872 10.349 0.826 10.934 0.999 0.732 0.588 0.744 0.616 . 5.800 5.800 5.270 1.176 0.618 1.000 1.000 0.999 937 Polyketide_synthase,_enoylreductase_domain;Alcohol_dehydrogenase,_N-terminal . . ID=COSV56820606;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) VAT1L 141 0 105 6 0.0540540540540541 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673802 7673802 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G818A p.R273H exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G818A:p.R273H 17p13.1 C3N-03000 2.628e-05 0 0 0 0 4.746e-05 0 0 rs28934576 19.20 D D D D D A M D D 0.965 D D D 0.868 . 0.997 0.264 T D D D D D 3.527 24.800 0.998 D D 0.383 4.238 0.333 3.915 1.000 0.722 0.702 0.725 0.735 . 4.920 4.920 7.905 1.022 0.596 1.000 0.856 0.980 432 p53,_DNA-binding_domain . . ID=COSV52660980;OCCURENCE=3(salivary_gland),135(breast),5(penis),9(liver),2(genital_tract),55(oesophagus),3(adrenal_gland),1(cervix),301(large_intestine),84(central_nervous_system),18(biliary_tract),1(fallopian_tube),1(pleura),4(vulva),73(ovary),8(bone),6(NS),57(haematopoietic_and_lymphoid_tissue),60(stomach),23(urinary_tract),7(soft_tissue),9(kidney),55(pancreas),15(skin),22(prostate),111(lung),11(thyroid),66(upper_aerodigestive_tract),2(thymus),41(endometrium) TP53 607 0 405 99 0.196428571428571 TRUE TRUE ENSG00000109061.10 . BCM GRCh38.p13 chr17 10497149 10497149 + G G A Missense_Mutation SNP ENST00000226207.6 exon33 c.C4576T p.R1526C exonic ENSG00000109061.10 . nonsynonymous SNV ENSG00000109061.10:ENST00000226207.6:exon33:c.C4576T:p.R1526C 17p13.1 C3N-03000 6.607e-05 0 8.655e-05 0.0003 0 1.502e-05 0 0.0002 rs141906658 8.20 D D P B U D M T N 0.389 T T D 0.376 0.613 0.783 0.244 T D T T T T 3.367 24.300 0.998 D D 0.239 3.479 0.380 4.220 0.091 0.487 0.590 0.574 0.564 . 5.660 5.660 2.071 1.176 0.676 0.792 0.998 0.995 169 Myosin_tail . . . MYH1 223 0 137 8 0.0551724137931034 TRUE NA ENSG00000076604.15 . BCM GRCh38.p13 chr17 28748653 28748653 + G G A Missense_Mutation SNP ENST00000262395.10 exon6 c.G767A p.G256D exonic ENSG00000076604.15 . nonsynonymous SNV ENSG00000076604.15:ENST00000262395.10:exon6:c.G767A:p.G256D 17q11.2 C3N-03000 8.36e-06 0 0 0 0 1.525e-05 0 0 rs757460687 18.20 D D D D D D H T D 0.852 D D D 0.726 0.739 0.810 1.992 T D D D D D 4.182 28.500 0.998 D D 1.033 15.005 0.971 17.184 1.000 0.722 0.672 0.699 0.711 . 5.650 5.650 9.173 1.176 0.676 1.000 0.998 0.994 122 Zinc_finger,_TRAF-type . . ID=COSV99286374;OCCURENCE=1(biliary_tract) TRAF4 143 0 97 22 0.184873949579832 TRUE NA ENSG00000105290.13 . BCM GRCh38.p13 chr19 35871682 35871682 + G G A Missense_Mutation SNP ENST00000652533.1 exon5 c.G608A p.R203H exonic ENSG00000105290.13 . nonsynonymous SNV ENSG00000105290.13:ENST00000652533.1:exon5:c.G608A:p.R203H 19q13.12 C3N-03000 2.472e-05 0 0 0.0002 0 0 0 6.057e-05 rs781528434 11.20 T T D D N D L D N 0.401 D D D 0.761 0.752 0.890 1.241 T T T D T D 3.357 24.300 0.999 D D 0.388 4.269 0.387 4.269 1.000 0.706 0.588 0.710 0.655 . 4.410 4.410 5.726 1.083 0.676 1.000 0.999 0.978 862 Amyloidogenic_glycoprotein,_extracellular;Amyloidogenic_glycoprotein,_copper-binding . . ID=COSV55701542;OCCURENCE=1(large_intestine),1(central_nervous_system),1(urinary_tract),1(skin) APLP1 351 0 359 23 0.0602094240837696 TRUE TRUE ENSG00000161681.15 . BCM GRCh38.p13 chr19 50662185 50662185 + G G A Missense_Mutation SNP ENST00000293441.5 exon23 c.C6266T p.P2089L exonic ENSG00000161681.15 . nonsynonymous SNV ENSG00000161681.15:ENST00000293441.5:exon23:c.C6266T:p.P2089L 19q13.33 C3N-03000 . . . . . . . . . 13.20 D D D D U D L T D 0.534 T T D 0.357 0.287 0.661 0.690 D D T T D D 4.218 28.800 0.976 D D 0.649 6.456 0.603 6.257 1.000 0.646 0.547 0.645 0.586 . 3.660 3.660 9.739 1.164 0.654 1.000 0.992 0.998 862 . . . . SHANK1 116 0 144 10 0.0649350649350649 TRUE NA ENSG00000101191.17 . BCM GRCh38.p13 chr20 62879315 62879315 + C C T Missense_Mutation SNP ENST00000395343.6 exon16 c.G6641A p.R2214Q exonic ENSG00000101191.17 . nonsynonymous SNV ENSG00000101191.17:ENST00000395343.6:exon16:c.G6641A:p.R2214Q 20q13.33 C3N-03000 3.883e-05 0.0004 0 0 0 0 0 0 rs369703114 5.20 D T P B N N M T D 0.109 T T D 0.071 . 0.443 0.589 T T T T T T 2.116 20.200 0.998 D N 0.001 2.516 0.014 2.408 1.000 0.789 0.694 0.768 0.604 . 5.290 4.320 1.546 0.070 -0.192 0.009 0.940 0.609 804 . . . . DIDO1 238 0 237 17 0.0669291338582677 TRUE NA ENSG00000100427.16 . BCM GRCh38.p13 chr22 50084845 50084845 + G G A Missense_Mutation SNP ENST00000311597.10 exon2 c.C58T p.R20W exonic ENSG00000100427.16 . nonsynonymous SNV ENSG00000100427.16:ENST00000311597.10:exon2:c.C58T:p.R20W 22q13.33 C3N-03000 . . . . . . . . . 19.20 D D D D D D M D D 0.475 D D D 0.738 0.435 0.923 0.909 T D D D D D 4.033 27.200 0.998 D D 0.152 3.096 0.045 2.521 1.000 0.616 0.627 0.618 0.542 . 5.540 0.936 3.740 -0.322 -0.148 1.000 0.238 0.234 934 . . . . MLC1 433 0 324 37 0.102493074792244 TRUE NA ENSG00000189401.3 . BCM GRCh38.p13 chrX 70063155 70063155 + G G A Missense_Mutation SNP ENST00000338352.3 exon1 c.G631A p.V211M exonic ENSG00000189401.3 . nonsynonymous SNV ENSG00000189401.3:ENST00000338352.3:exon1:c.G631A:p.V211M Xq13.1 C3N-03000 . . . . . . . . . 7.19 D T D D D N M T N 0.113 T T D 0.124 0.450 0.355 0.974 T T T T D T 1.356 14.780 0.996 N . . . . . 0.083 . . . . . 4.420 3.560 1.803 0.225 0.618 0.429 0.002 0.002 170 OTU_domain . . ID=COSV57972732;OCCURENCE=2(breast),1(parathyroid),1(endometrium) OTUD6A 99 0 91 5 0.0520833333333333 TRUE TRUE ENSG00000154358.21 . BCM GRCh38.p13 chr1 228362715 228362715 + C C T Silent SNP ENST00000422127.5 exon80 c.C18801T p.T6267T exonic ENSG00000154358.21 . synonymous SNV ENSG00000154358.21:ENST00000422127.5:exon80:c.C18801T:p.T6267T 1q42.13 C3N-03000 4.611e-05 0 0 0 0 8.587e-05 0 0 rs753136423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52782753;OCCURENCE=1(central_nervous_system) OBSCN 86 0 83 14 0.144329896907216 TRUE TRUE ENSG00000144218.19 . BCM GRCh38.p13 chr2 99593939 99593939 + G G A Silent SNP ENST00000409236.6 exon13 c.C1722T p.N574N exonic ENSG00000144218.19 . synonymous SNV ENSG00000144218.19:ENST00000409236.6:exon13:c.C1722T:p.N574N 2q11.2 C3N-03000 0.0002 0 0 0.0006 0.0003 0.0002 0 0 rs771387532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57841769;OCCURENCE=1(large_intestine) AFF3 39 0 15 12 0.444444444444444 TRUE TRUE ENSG00000138798.13 . BCM GRCh38.p13 chr4 109963231 109963231 + A A G Silent SNP ENST00000265171.10 exon9 c.A1371G p.V457V exonic ENSG00000138798.13 . synonymous SNV ENSG00000138798.13:ENST00000265171.10:exon9:c.A1371G:p.V457V 4q25 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EGF 454 0 273 47 0.146875 TRUE TRUE ENSG00000239389.8 . BCM GRCh38.p13 chr5 140883951 140883951 + C C T Silent SNP ENST00000289272.3 exon1 c.C1683T p.N561N exonic ENSG00000239389.8 . synonymous SNV ENSG00000239389.8:ENST00000289272.3:exon1:c.C1683T:p.N561N 5q31.3 C3N-03000 8.444e-06 0 0 0 0 1.54e-05 0 0 rs782324778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56486193;OCCURENCE=1(large_intestine),1(stomach),1(prostate) PCDHA13 719 0 520 61 0.104991394148021 NA TRUE ENSG00000081853.15 . BCM GRCh38.p13 chr5 141340693 141340693 + C C T Silent SNP ENST00000394576.3 exon1 c.C1722T p.G574G exonic ENSG00000081853.15 . synonymous SNV ENSG00000081853.15:ENST00000394576.3:exon1:c.C1722T:p.G574G 5q31.3 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53912616;OCCURENCE=1(large_intestine),1(skin) PCDHGA2 550 0 464 32 0.0645161290322581 NA TRUE ENSG00000148082.10 . BCM GRCh38.p13 chr9 89071244 89071244 + C C T Silent SNP ENST00000375835.9 exon5 c.G738A p.A246A exonic ENSG00000148082.10 . synonymous SNV ENSG00000148082.10:ENST00000375835.9:exon5:c.G738A:p.A246A 9q22.1 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHC3 227 0 151 33 0.179347826086957 TRUE NA ENSG00000167355.8 . BCM GRCh38.p13 chr11 5343066 5343066 + G G A Silent SNP ENST00000300773.3 exon1 c.C459T p.S153S exonic ENSG00000167355.8 . synonymous SNV ENSG00000167355.8:ENST00000300773.3:exon1:c.C459T:p.S153S 11p15.4 C3N-03000 2.502e-05 0 0 0 0 4.55e-05 0 0 rs62000378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR51B5 140 0 72 22 0.234042553191489 TRUE NA ENSG00000166928.11 . BCM GRCh38.p13 chr11 60416414 60416414 + C C A Silent SNP ENST00000300187.11 exon5 c.C1446A p.S482S exonic ENSG00000166928.11 . synonymous SNV ENSG00000166928.11:ENST00000300187.11:exon5:c.C1446A:p.S482S 11q12.2 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MS4A14 310 0 226 15 0.0622406639004149 TRUE TRUE ENSG00000174516.15 . BCM GRCh38.p13 chr11 66473820 66473820 + C C T Silent SNP ENST00000320740.12 exon7 c.C735T p.G245G exonic ENSG00000174516.15 . synonymous SNV ENSG00000174516.15:ENST00000320740.12:exon7:c.C735T:p.G245G 11q13.2 C3N-03000 8.282e-06 0 0 0 0 0 0 6.058e-05 rs773772009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PELI3 370 0 336 26 0.0718232044198895 TRUE NA ENSG00000211899.10 . BCM GRCh38.p13 chr14 105852214 105852214 + G G A Silent SNP ENST00000637539.2 exon5 c.C1350T p.T450T exonic ENSG00000211899.10 . synonymous SNV ENSG00000211899.10:ENST00000637539.2:exon5:c.C1350T:p.T450T 14q32.33 C3N-03000 1.052e-05 0 0 0 0 1.856e-05 0 0 rs756477133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHM 629 0 539 49 0.0833333333333333 TRUE NA ENSG00000213424.9 . BCM GRCh38.p13 chr17 40657357 40657357 + A A C Silent SNP ENST00000394052.5 exon5 c.T654G p.T218T exonic ENSG00000213424.9;ENSG00000264058.2 . synonymous SNV ENSG00000213424.9:ENST00000394052.5:exon5:c.T654G:p.T218T,ENSG00000264058.2:ENST00000476049.1:exon5:c.T654G:p.T218T 17q21.2 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KRT222 82 0 71 5 0.0657894736842105 NA TRUE ENSG00000005007.13 . BCM GRCh38.p13 chr19 18852182 18852182 + C C T Silent SNP ENST00000599848.5 exon6 c.C858T p.D286D exonic ENSG00000005007.13 . synonymous SNV ENSG00000005007.13:ENST00000599848.5:exon6:c.C858T:p.D286D 19p13.11 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53194445;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) UPF1 180 0 107 47 0.305194805194805 TRUE TRUE ENSG00000181215.15 . BCM GRCh38.p13 chr4 5989703 5989703 + G G A 5'Flank SNP NA NA NA NA upstream ENSG00000181215.15 dist=56 . . 4p16.2 C3N-03000 . . . . . . . . rs892390528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C4orf50 126 0 114 15 0.116279069767442 TRUE NA ENSG00000124549.14 . BCM GRCh38.p13 chr6 26423199 26423199 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000124549.14 . . . 6p22.2 C3N-03000 8.238e-05 0.0004 0 0.0001 0 2.997e-05 0.0011 0.0001 rs368563402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BTN2A3P 205 0 178 29 0.140096618357488 TRUE NA ENSG00000234773.7 . BCM GRCh38.p13 chr19 12250004 12250004 + C C G IGR SNP NA NA NA NA intergenic ENSG00000234773.7;ENSG00000213293.4 dist=40198;dist=10122 . . 19p13.2 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC012618.3 138 0 103 21 0.169354838709677 TRUE NA ENSG00000101292.7 . BCM GRCh38.p13 chr20 5316021 5316021 + C C T IGR SNP NA NA NA NA intergenic ENSG00000101292.7;ENSG00000266908.2 dist=1652;dist=2247 . . 20p12.3 C3N-03000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PROKR2 296 0 276 17 0.0580204778156997 TRUE NA ENSG00000142173.16 . BCM GRCh38.p13 chr21 46129203 46129203 + G G A Intron SNP NA NA NA NA intronic ENSG00000142173.16 . . . 21q22.3 C3N-03000 0.0001 0 8.715e-05 0 0 0.0002 0 0.0003 rs201135253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL6A2 345 0 263 51 0.162420382165605 TRUE NA ENSG00000163349.22 . BCM GRCh38.p13 chr1 113954722 113954722 + G G T Missense_Mutation SNP ENST00000426820.7 exon4 c.G1272T p.R424S exonic ENSG00000163349.22 . nonsynonymous SNV ENSG00000163349.22:ENST00000426820.7:exon4:c.G1272T:p.R424S 1p13.2 C3L-00598 . . . . . . . . . 13.20 D D D D D D L T D 0.898 T T T 0.295 0.631 0.873 1.855 D T D D D D 3.953 26.700 0.998 D N 0.457 4.719 0.465 4.857 0.587 0.732 0.654 0.710 0.728 . 5.000 4.020 2.235 0.226 0.676 1.000 0.999 0.997 505 Protein_kinase_domain . . . HIPK1 153 1 259 52 0.167202572347267 TRUE TRUE ENSG00000162729.14 . BCM GRCh38.p13 chr1 160094985 160094985 + G G A Missense_Mutation SNP ENST00000314485.12 exon2 c.C326T p.A109V exonic ENSG00000162729.14 . nonsynonymous SNV ENSG00000162729.14:ENST00000314485.12:exon2:c.C326T:p.A109V 1q23.2 C3L-00598 . . . . . . . . . 6.20 D T P B N N M T D 0.439 T T T 0.112 0.482 0.399 0.305 T T T T D T 2.056 19.680 0.998 D D -0.082 2.233 0.013 2.403 1.000 0.722 0.725 0.699 0.613 . 5.040 5.040 4.192 0.226 0.676 0.998 0.002 0.102 754 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV58757715;OCCURENCE=1(stomach) IGSF8 254 0 674 136 0.167901234567901 TRUE TRUE ENSG00000136546.16 . BCM GRCh38.p13 chr2 166427882 166427882 + C C T Nonsense_Mutation SNP ENST00000643258.1 exon18 c.G2759A p.W920X exonic ENSG00000136546.16 . stopgain ENSG00000136546.16:ENST00000643258.1:exon18:c.G2759A:p.W920X 2q24.3 C3L-00598 . . . . . . . . . 5.6 . . . . D A . . . 0.906 . . . . . . . . . D D . . 8.080 41 0.996 D N 0.828 9.358 0.663 7.114 1.000 0.554 0.574 0.618 0.613 . 5.020 5.020 7.905 1.026 0.549 1.000 0.982 0.516 556 Sodium_ion_transport-associated . . . SCN7A 167 0 400 28 0.0654205607476635 TRUE TRUE ENSG00000128713.14 . BCM GRCh38.p13 chr2 176107621 176107621 + G G T Missense_Mutation SNP ENST00000249504.7 exon1 c.G266T p.S89I exonic ENSG00000128713.14 . nonsynonymous SNV ENSG00000128713.14:ENST00000249504.7:exon1:c.G266T:p.S89I 2q31.1 C3L-00598 . . . . . . . . . 6.19 D D B B . N N D N 0.231 T D D 0.234 0.289 0.820 . D T T T T T 1.947 18.850 0.960 N N -0.672 0.860 -0.611 1.029 1.000 0.598 0.658 0.608 0.639 . 1.740 1.740 0.559 0.063 -0.865 0.993 0.085 0.007 745 . . . . HOXD11 24 0 70 25 0.263157894736842 TRUE TRUE ENSG00000114654.7 . BCM GRCh38.p13 chr3 129032902 129032902 + G G A Missense_Mutation SNP ENST00000436022.2 exon4 c.G1219A p.E407K exonic ENSG00000114654.7 . nonsynonymous SNV ENSG00000114654.7:ENST00000436022.2:exon4:c.G1219A:p.E407K 3q21.3 C3L-00598 . . . . . . . . . 1.16 . T B B . N L . . 0.126 T T D 0.039 0.173 0.014 . T T T T T T 1.007 11.710 0.991 N N -0.923 0.491 -0.910 0.607 0.996 0.517 0.547 0.479 0.613 . 4.870 1.880 1.818 0.171 0.614 0.048 0.024 0.139 602 . . . ID=COSV104714601;OCCURENCE=1(skin) EFCC1 110 0 252 74 0.226993865030675 TRUE TRUE ENSG00000090402.8 . BCM GRCh38.p13 chr3 165009352 165009352 + G G A Missense_Mutation SNP ENST00000264382.8 exon35 c.C4106T p.S1369F exonic ENSG00000090402.8 . nonsynonymous SNV ENSG00000090402.8:ENST00000264382.8:exon35:c.C4106T:p.S1369F 3q26.1 C3L-00598 . . . . . . . . . 14.20 D D D D N N M D D 0.407 D D D 0.364 0.471 0.937 0.215 T D D T D D 2.975 23.400 0.997 N N 0.266 3.610 0.084 2.671 0.000 0.487 0.574 0.574 0.564 . 4.510 2.610 1.516 1.155 0.618 0.058 0.541 0.415 848 . . . . SI 198 0 242 66 0.214285714285714 TRUE TRUE ENSG00000090530.10 . BCM GRCh38.p13 chr3 189958000 189958000 + C C T Missense_Mutation SNP ENST00000319332.10 exon15 c.G2039A p.R680Q exonic ENSG00000090530.10 . nonsynonymous SNV ENSG00000090530.10:ENST00000319332.10:exon15:c.G2039A:p.R680Q 3q28 C3L-00598 3.297e-05 9.615e-05 8.649e-05 0 0 1.499e-05 0 6.06e-05 rs571855250 14.20 D D D P D D M T D 0.825 T T D 0.301 0.610 0.454 0.376 T T D D D D 4.226 28.900 1.000 D D 0.647 6.434 0.693 7.625 1.000 0.706 0.710 0.644 0.542 . 5.620 5.620 7.358 1.026 0.599 1.000 1.000 0.998 826 . . . ID=COSV60020942;OCCURENCE=1(large_intestine) P3H2 381 0 478 113 0.191201353637902 TRUE TRUE ENSG00000168214.20 . BCM GRCh38.p13 chr4 26430929 26430934 + AAACAG AAACAG - In_Frame_Del DEL ENST00000342295.5 exon12 c.1425_1430del p.N476_S477del exonic ENSG00000168214.20 . nonframeshift deletion ENSG00000168214.20:ENST00000342295.5:exon12:c.1425_1430del:p.N476_S477del 4p15.2 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBPJ 419 0 582 131 0.183730715287518 TRUE TRUE ENSG00000109674.4 . BCM GRCh38.p13 chr4 177341483 177341483 + A A C Missense_Mutation SNP ENST00000264596.4 exon6 c.A710C p.K237T exonic ENSG00000109674.4 . nonsynonymous SNV ENSG00000109674.4:ENST00000264596.4:exon6:c.A710C:p.K237T 4q34.3 C3L-00598 . . . . . . . . . 13.20 D D D D D D M T D 0.628 T T D 0.333 0.468 0.501 0.647 T T T T D D 3.365 24.300 0.998 D D 0.556 5.507 0.471 4.905 1.000 0.706 0.588 0.710 0.655 . 5.620 5.620 5.759 1.312 0.756 1.000 0.989 0.707 975 . . . . NEIL3 96 0 199 47 0.191056910569106 NA TRUE ENSG00000175416.15 . BCM GRCh38.p13 chr5 176392882 176392884 + CTT CTT - In_Frame_Del DEL ENST00000310418.8 exon6 c.580_582del p.K194del exonic ENSG00000175416.15 . nonframeshift deletion ENSG00000175416.15:ENST00000310418.8:exon6:c.580_582del:p.K194del 5q35.2 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLTB 281 0 675 132 0.163568773234201 TRUE TRUE ENSG00000182348.7 . BCM GRCh38.p13 chr7 89336776 89336776 + G G A Missense_Mutation SNP ENST00000333190.5 exon4 c.G3794A p.G1265D exonic ENSG00000182348.7 . nonsynonymous SNV ENSG00000182348.7:ENST00000333190.5:exon4:c.G3794A:p.G1265D 7q21.13 C3L-00598 . . . . . . . . . 9.20 D D D P N D M T D 0.663 T T T 0.172 0.233 0.378 0.273 T T T T D T 3.388 24.400 0.995 D D 0.384 4.247 0.343 3.977 0.115 0.616 0.574 0.575 0.564 . 5.290 4.400 4.851 0.199 -0.153 1.000 0.979 0.876 910 . . . . ZNF804B 276 0 429 145 0.252613240418118 TRUE NA ENSG00000164794.9 . BCM GRCh38.p13 chr8 109968230 109968230 + A A C Missense_Mutation SNP ENST00000524391.6 exon4 c.T1361G p.L454R exonic ENSG00000164794.9 . nonsynonymous SNV ENSG00000164794.9:ENST00000524391.6:exon4:c.T1361G:p.L454R 8q23.2 C3L-00598 . . . . . . . . . 14.20 D T D P D D N D N 0.795 D D D 0.765 0.680 0.955 2.770 D T D D D T 3.448 24.500 0.998 D D 0.504 5.070 0.590 6.095 0.011 0.554 0.588 0.547 0.564 . 5.650 5.650 8.818 1.312 0.756 1.000 0.998 0.998 703 . . . . KCNV1 268 0 450 104 0.187725631768953 TRUE TRUE ENSG00000151224.13 . BCM GRCh38.p13 chr10 80280724 80280724 + C C T Missense_Mutation SNP ENST00000372213.8 exon4 c.G361A p.V121I exonic ENSG00000151224.13 . nonsynonymous SNV ENSG00000151224.13:ENST00000372213.8:exon4:c.G361A:p.V121I 10q22.3 C3L-00598 3.295e-05 0 0 0 0 2.997e-05 0 0.0001 rs545505182 16.20 D D D D D D H D N 0.270 D D D 0.647 . 0.633 0.502 T D T T D D 3.319 24.200 0.999 D D 0.727 7.519 0.626 6.561 1.000 0.615 0.563 0.616 0.564 . 5.430 4.530 5.855 1.026 0.599 1.000 0.959 0.811 946 . . . ID=COSV64747269;OCCURENCE=1(lung) MAT1A 562 1 983 235 0.192939244663383 TRUE TRUE ENSG00000149305.7 . BCM GRCh38.p13 chr11 113932381 113932381 + C C T Missense_Mutation SNP ENST00000260191.7 exon5 c.C461T p.A154V exonic ENSG00000149305.7 . nonsynonymous SNV ENSG00000149305.7:ENST00000260191.7:exon5:c.C461T:p.A154V 11q23.2 C3L-00598 8.237e-06 0 0 0 0 1.499e-05 0 0 rs770088313 14.20 D D D D D D M T N 0.318 T T D 0.506 0.724 0.894 0.484 T T D D D D 2.748 22.900 0.999 D D 0.449 4.662 0.490 5.067 1.000 0.447 0.563 0.492 0.530 . 5.820 5.820 6.176 1.026 0.599 1.000 0.851 0.501 864 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . ID=COSV52746850;OCCURENCE=1(large_intestine),1(small_intestine) HTR3B 200 0 322 55 0.145888594164456 TRUE TRUE ENSG00000166535.20 . BCM GRCh38.p13 chr12 8850220 8850220 + C C T Missense_Mutation SNP ENST00000299698.12 exon18 c.C2180T p.S727F exonic ENSG00000166535.20 . nonsynonymous SNV ENSG00000166535.20:ENST00000299698.12:exon18:c.C2180T:p.S727F 12p13.31 C3L-00598 . . . . . . . . . 5.20 D D P B N N M T D 0.429 T T T 0.085 0.423 0.102 0.344 T T T T D T 2.551 22.500 0.994 N N -0.289 1.642 -0.330 1.504 0.229 0.732 0.590 0.744 0.564 . 3.480 2.570 1.052 1.026 0.599 0.954 0.644 0.253 728 . . . . A2ML1 173 0 423 64 0.131416837782341 TRUE NA ENSG00000121361.5 . BCM GRCh38.p13 chr12 21766177 21766177 + C C T Missense_Mutation SNP ENST00000240662.3 exon3 c.G821A p.R274H exonic ENSG00000121361.5 . nonsynonymous SNV ENSG00000121361.5:ENST00000240662.3:exon3:c.G821A:p.R274H 12p12.1 C3L-00598 5.774e-05 0.0002 0 0 0 7.501e-05 0 0 rs149127157 8.20 T T B B D D N D N 0.351 D D D 0.327 . 0.871 1.682 T D T T T D 2.261 21.300 0.997 N N -0.004 2.495 0.179 3.084 0.203 0.554 0.574 0.618 0.542 . 5.350 5.350 1.772 1.010 0.580 1.000 1.000 0.998 746 . . . ID=COSV53715525;OCCURENCE=1(urinary_tract),2(lung) KCNJ8 134 0 213 99 0.317307692307692 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-00598 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 348 0 475 197 0.293154761904762 TRUE TRUE ENSG00000181803.3 . BCM GRCh38.p13 chr14 20641295 20641295 + G G A Missense_Mutation SNP ENST00000320704.3 exon1 c.C397T p.R133C exonic ENSG00000181803.3 . nonsynonymous SNV ENSG00000181803.3:ENST00000320704.3:exon1:c.C397T:p.R133C 14q11.2 C3L-00598 5.772e-05 0.0002 0 0 0 4.499e-05 0.0011 6.071e-05 rs142856316 6.20 D D B B N N M T D 0.119 T T T 0.100 . 0.544 0.044 T T T T T D 2.742 22.900 0.998 D N -0.027 2.418 0.081 2.659 0.634 0.598 0.551 0.547 0.639 . 5.760 4.800 1.066 1.158 0.656 0.086 0.912 0.974 940 GPCR,_rhodopsin-like,_7TM . . . OR6S1 178 0 337 69 0.169950738916256 TRUE NA ENSG00000211800.3 . BCM GRCh38.p13 chr14 22040893 22040893 + C C T Missense_Mutation SNP ENST00000390448.3 exon2 c.C77T p.T26M exonic ENSG00000211800.3 . nonsynonymous SNV ENSG00000211800.3:ENST00000390448.3:exon2:c.C77T:p.T26M 14q11.2 C3L-00598 1.696e-05 0 0 0 0 3.073e-05 0 0 rs369305527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAV20 138 0 246 77 0.238390092879257 TRUE NA ENSG00000103966.11 . BCM GRCh38.p13 chr15 41919486 41919486 + C C A Missense_Mutation SNP ENST00000220325.9 exon4 c.G648T p.K216N exonic ENSG00000103966.11 . nonsynonymous SNV ENSG00000103966.11:ENST00000220325.9:exon4:c.G648T:p.K216N 15q15.1 C3L-00598 . . . . . . . . . 20.20 D D D D D D H D D 0.958 D D D 0.863 0.706 0.975 1.465 D D D D D D 3.406 24.400 0.999 D D 0.671 6.736 0.556 5.716 1.000 0.722 0.702 0.725 0.735 . 5.320 3.410 1.808 0.138 0.599 1.000 0.999 0.976 116 Dynamin-type_guanine_nucleotide-binding_(G)_domain . . . EHD4 30 0 45 41 0.476744186046512 TRUE TRUE ENSG00000141096.6 . BCM GRCh38.p13 chr16 67980253 67980253 + G G A Missense_Mutation SNP ENST00000268793.6 exon1 c.C128T p.P43L exonic ENSG00000141096.6 . nonsynonymous SNV ENSG00000141096.6:ENST00000268793.6:exon1:c.C128T:p.P43L 16q22.1 C3L-00598 . . . . . . . . . 3.15 D D . . N N . T N 0.109 T T T 0.074 . 0.225 1.281 T . T T D . 1.018 11.850 0.991 N N -0.178 1.939 -0.360 1.446 0.394 0.696 0.547 0.692 0.613 . 3.240 3.240 0.413 0.149 -0.110 0.496 0.003 0.003 10 . . . . DPEP3 164 0 427 86 0.167641325536062 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675136 7675136 + G G A Missense_Mutation SNP ENST00000269305.8 exon5 c.C476T p.A159V exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.C476T:p.A159V 17p13.1 C3L-00598 . . . . . . . . . 18.20 D D D P D D M D D 0.672 D D D 0.774 0.863 0.952 1.552 T D D D D D 3.504 24.700 0.998 D D 0.022 2.591 -0.044 2.215 0.990 0.722 0.698 0.698 0.735 . 5.590 2.420 8.150 1.176 0.676 1.000 0.917 0.632 434 p53,_DNA-binding_domain . . ID=COSV52674926;OCCURENCE=11(breast),3(liver),4(oesophagus),1(cervix),12(large_intestine),3(central_nervous_system),5(ovary),4(stomach),2(haematopoietic_and_lymphoid_tissue),5(urinary_tract),2(pancreas),5(skin),2(prostate),19(lung),1(thyroid),1(upper_aerodigestive_tract),3(endometrium) TP53 403 0 404 167 0.292469352014011 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 C3L-00598 . . . . . . . . . 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 454 0 526 190 0.26536312849162 TRUE TRUE ENSG00000154263.17 . BCM GRCh38.p13 chr17 69152396 69152396 + C C T Missense_Mutation SNP ENST00000269081.8 exon36 c.G4222A p.D1408N exonic ENSG00000154263.17 . nonsynonymous SNV ENSG00000154263.17:ENST00000269081.8:exon36:c.G4222A:p.D1408N 17q24.3 C3L-00598 . . . . . . . . . 15.20 D D D D U D L D D 0.553 D D D 0.625 0.864 0.704 0.224 T T D T D D 3.194 23.800 0.999 D D 0.319 3.880 0.212 3.243 0.020 0.554 0.588 0.574 0.621 . 3.280 2.280 5.118 -0.253 0.526 1.000 0.039 0.311 892 ABC_transporter-like;AAA+_ATPase_domain . . . ABCA10 112 0 274 72 0.208092485549133 TRUE TRUE ENSG00000167210.17 . BCM GRCh38.p13 chr18 46477699 46477699 + C C T Missense_Mutation SNP ENST00000441551.6 exon39 c.G5977A p.E1993K exonic ENSG00000167210.17 . nonsynonymous SNV ENSG00000167210.17:ENST00000441551.6:exon39:c.G5977A:p.E1993K 18q21.1 C3L-00598 9.169e-05 0.0005 0 0 0 0.0001 0 0 rs376559755 13.18 D D D D . D . T D 0.879 T T D 0.475 . 0.326 . T T D D D D 4.071 27.500 0.995 D D 0.846 9.754 0.792 9.905 1.000 0.447 0.563 0.573 0.613 . 5.140 5.140 7.879 1.026 0.599 1.000 0.999 0.986 918 PLAT/LH2_domain . . . LOXHD1 968 2 1162 447 0.277812305779988 TRUE NA ENSG00000105141.6 . BCM GRCh38.p13 chr19 15053790 15053790 + G G A Missense_Mutation SNP ENST00000427043.4 exon4 c.G235A p.V79I exonic ENSG00000105141.6 . nonsynonymous SNV ENSG00000105141.6:ENST00000427043.4:exon4:c.G235A:p.V79I 19p13.12 C3L-00598 0.0002 0 0.0002 0 0 0.0003 0 0 rs143520169 0.20 T T B B N N L T N 0.213 T T T 0.033 . 0.061 0.031 T T T T T T -0.442 0.157 0.855 N N -1.491 0.084 -1.532 0.096 0.000 0.487 0.590 0.574 0.564 . 5.050 -1.630 -0.007 -0.879 -1.077 0.098 0.021 0.006 970 Peptidase_C14A,_caspase_catalytic_domain;Peptidase_C14,__p20_domain . . ID=COSV55667158;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) CASP14 230 1 339 85 0.200471698113208 TRUE TRUE ENSG00000160321.15 . BCM GRCh38.p13 chr19 21972609 21972609 + C C T Missense_Mutation SNP ENST00000397126.9 exon4 c.G2425A p.E809K exonic ENSG00000160321.15 . nonsynonymous SNV ENSG00000160321.15:ENST00000397126.9:exon4:c.G2425A:p.E809K 19p12 C3L-00598 . . . . . . . . . 3.17 T D . . . N L T D 0.227 T T T 0.023 - 0.148 0.008 T T T T D T 0.152 2.600 0.989 N N -0.529 1.120 -0.715 0.878 0.000 0.487 0.574 0.574 0.564 . 2.570 1.500 -0.600 -0.631 -0.790 0.000 0.005 0.003 988 Zinc_finger_C2H2-type . . . ZNF208 232 0 377 77 0.169603524229075 NA TRUE ENSG00000170604.5 . BCM GRCh38.p13 chr19 45884303 45884303 + C C T Missense_Mutation SNP ENST00000302165.5 exon1 c.G1472A p.S491N exonic ENSG00000170604.5 . nonsynonymous SNV ENSG00000170604.5:ENST00000302165.5:exon1:c.G1472A:p.S491N 19q13.32 C3L-00598 . . . . . . . . . 1.20 T T B B N N N T N 0.065 T T T 0.073 0.207 0.082 . T T T T D T 1.206 13.680 0.481 N N -0.792 0.666 -0.722 0.869 1.000 0.543 0.686 0.269 0.636 . 4.490 4.490 2.427 1.026 0.599 0.009 0.722 0.320 702 . . . . IRF2BP1 133 0 334 85 0.202863961813842 TRUE TRUE ENSG00000131398.15 . BCM GRCh38.p13 chr19 50323406 50323406 + C C T Missense_Mutation SNP ENST00000477616.2 exon2 c.G1547A p.G516E exonic ENSG00000131398.15 . nonsynonymous SNV ENSG00000131398.15:ENST00000477616.2:exon2:c.G1547A:p.G516E 19q13.33 C3L-00598 . . . . . . . . . 19.20 D D D D U D H D D 0.989 D D D 0.780 0.909 0.983 . D D D D D D 3.699 25.400 0.996 D D 0.427 4.516 0.218 3.273 0.932 0.706 0.710 0.702 0.605 . 3.260 2.210 7.731 0.883 0.465 1.000 0.997 0.896 628 Ion_transport_domain . . ID=COSV65387131;OCCURENCE=1(upper_aerodigestive_tract) KCNC3 815 1 1177 305 0.205802968960864 TRUE TRUE ENSG00000242019.1 . BCM GRCh38.p13 chr19 54727752 54727752 + G G A Missense_Mutation SNP ENST00000291860.1 exon4 c.G497A p.R166H exonic ENSG00000242019.1 . nonsynonymous SNV ENSG00000242019.1:ENST00000291860.1:exon4:c.G497A:p.R166H 19q13.42 C3L-00598 2.253e-05 0 0 0 0 3.967e-05 0 0 rs201591361 0.14 T T . . . N . T N 0.030 T T T 0.010 . 0.043 2.110 T . T T T . -0.329 0.270 0.471 N N -1.650 0.045 -1.702 0.051 0.000 0.487 0.574 0.574 0.564 . 1.200 -0.022 -0.798 0.012 -0.349 0.000 0.000 0.000 952 Immunoglobulin_subtype . . ID=COSV52549600;OCCURENCE=1(large_intestine),1(lung) KIR3DL3 289 0 638 163 0.203495630461923 TRUE NA ENSG00000101004.15 . BCM GRCh38.p13 chr20 25491413 25491413 + C C T Missense_Mutation SNP ENST00000278886.11 exon11 c.G1423A p.D475N exonic ENSG00000101004.15 . nonsynonymous SNV ENSG00000101004.15:ENST00000278886.11:exon11:c.G1423A:p.D475N 20p11.21 C3L-00598 . . . . . . . . . 10.20 D D D D D D M T D 0.423 T T T 0.177 0.218 0.466 0.121 T T T T D T 2.921 23.300 0.999 D N 0.511 5.125 0.427 4.555 1.000 0.644 0.574 0.688 0.636 . 4.600 4.600 5.738 1.015 0.536 0.999 0.005 0.008 579 . . . . NINL 132 0 354 86 0.195454545454545 TRUE TRUE ENSG00000011201.12 . BCM GRCh38.p13 chrX 8597139 8597139 + C C T Missense_Mutation SNP ENST00000262648.8 exon4 c.G436A p.A146T exonic ENSG00000011201.12 . nonsynonymous SNV ENSG00000011201.12:ENST00000262648.8:exon4:c.G436A:p.A146T Xp22.31 C3L-00598 3.456e-05 0.0002 0.0001 0 0 0 0 0 rs144620955 9.19 D D D D D D L T N 0.557 T T D 0.562 . 0.922 1.674 T T T T T D 3.074 23.600 0.999 D . . . . . 1.000 . . . . . 4.510 4.510 6.705 0.877 0.599 1.000 0.565 0.599 1000 WAP-type_'four-disulfide_core'_domain . . ID=COSV52916486;OCCURENCE=1(central_nervous_system) ANOS1 586 0 1018 204 0.166939443535188 TRUE TRUE ENSG00000184368.16 . BCM GRCh38.p13 chrX 20052943 20052943 + G G A Missense_Mutation SNP ENST00000379651.7 exon5 c.C530T p.T177M exonic ENSG00000184368.16 . nonsynonymous SNV ENSG00000184368.16:ENST00000379651.7:exon5:c.C530T:p.T177M Xp22.12 C3L-00598 . . . . . . . . rs367603064 2.19 T T B B N D N T N 0.143 T T D 0.030 . 0.174 0.184 T T T T T T 0.309 4.395 0.957 N . . . . . 0.002 . . . . . 5.640 0.102 -0.023 1.172 0.672 0.628 0.999 0.997 60 . . . ID=COSV65527236;OCCURENCE=1(large_intestine) MAP7D2 235 0 498 106 0.175496688741722 TRUE TRUE ENSG00000102226.10 . BCM GRCh38.p13 chrX 47247838 47247838 + C C T Nonsense_Mutation SNP ENST00000218348.7 exon21 c.C2800T p.R934X exonic ENSG00000102226.10 . stopgain ENSG00000102226.10:ENST00000218348.7:exon21:c.C2800T:p.R934X Xp11.3 C3L-00598 . . . . . . . . . 3.5 . . . . N D . . . 0.783 . . . . . . . . . D D . . 5.636 34 0.995 N . . . . . 1.000 . . . . . 4.690 4.690 0.560 1.026 0.593 0.058 0.114 0.784 548 . . . . USP11 130 1 255 80 0.238805970149254 TRUE NA ENSG00000126970.16 . BCM GRCh38.p13 chrX 64919125 64919125 + C C T Missense_Mutation SNP ENST00000374839.8 exon4 c.G478A p.A160T exonic ENSG00000126970.16 . nonsynonymous SNV ENSG00000126970.16:ENST00000374839.8:exon4:c.G478A:p.A160T Xq11.2 C3L-00598 2.396e-05 0.0001 0.0001 0 0 0 0 0 rs372946873 6.18 T T D P D D L . N 0.510 T T D 0.138 . 0.407 0.007 T T T T T D 2.482 22.400 0.999 D . . . . . 1.000 . . . . . 5.400 5.400 5.907 1.026 0.599 1.000 0.998 0.989 40 . . . ID=COSV62005205;OCCURENCE=1(skin) ZC4H2 96 0 141 31 0.180232558139535 TRUE TRUE ENSG00000198934.5 . BCM GRCh38.p13 chrX 76430676 76430676 + C C T Nonsense_Mutation SNP ENST00000361470.4 exon1 c.C2746T p.R916X exonic ENSG00000198934.5 . stopgain ENSG00000198934.5:ENST00000361470.4:exon1:c.C2746T:p.R916X Xq13.3 C3L-00598 . . . . . . . . . 3.4 . . . . . D . . . 0.066 . . . . . . . . . D D . . 4.443 31 0.991 N . . . . . 0.001 . . . . . 2.000 0.034 -0.177 0.009 -0.204 0.133 0.998 0.991 203 MAGE_homology_domain . . ID=COSV63912558;OCCURENCE=1(liver),1(stomach) MAGEE1 202 0 446 104 0.189090909090909 TRUE TRUE ENSG00000185313.8 . BCM GRCh38.p13 chr3 38793740 38793740 + C C - Splice_Site SNP NA NA NA NA splicing ENSG00000185313.8 ENST00000449082.3:exon2:c.270+1G>- . . 3p22.2 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN10A 123 0 250 57 0.185667752442997 TRUE TRUE ENSG00000113492.14 . BCM GRCh38.p13 chr5 35010151 35010151 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000113492.14 ENST00000231420.11:exon12:c.1189-2A>T . . 5p13.2 C3L-00598 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.398 34 0.995 D . 1.072 16.369 0.909 14.121 1.000 0.066 0.061 0.060 0.075 0.977 5.670 5.670 7.479 1.138 0.665 1.000 0.966 0.694 722 . . . . AGXT2 419 0 589 158 0.211512717536814 TRUE TRUE ENSG00000018625.15 . BCM GRCh38.p13 chr1 160130218 160130218 + G G A Silent SNP ENST00000361216.8 exon12 c.G1578A p.P526P exonic ENSG00000018625.15 . synonymous SNV ENSG00000018625.15:ENST00000361216.8:exon12:c.G1578A:p.P526P 1q23.2 C3L-00598 4.952e-05 0 0 0.0001 0 7.515e-05 0 0 rs376128790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP1A2 529 1 912 246 0.212435233160622 TRUE NA ENSG00000196843.17 . BCM GRCh38.p13 chr2 96552190 96552190 + C C T Silent SNP ENST00000357485.8 exon7 c.C1662T p.F554F exonic ENSG00000196843.17 . synonymous SNV ENSG00000196843.17:ENST00000357485.8:exon7:c.C1662T:p.F554F 2q11.2 C3L-00598 8.32e-06 0 0 0 0 0 0 6.112e-05 rs770664548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID5A 196 1 309 70 0.184696569920844 TRUE NA ENSG00000144357.17 . BCM GRCh38.p13 chr2 170079891 170079891 + G G A Silent SNP ENST00000272793.10 exon37 c.G5277A p.Q1759Q exonic ENSG00000144357.17 . synonymous SNV ENSG00000144357.17:ENST00000272793.10:exon37:c.G5277A:p.Q1759Q 2q31.1 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBR3 243 0 305 66 0.177897574123989 TRUE NA ENSG00000145555.15 . BCM GRCh38.p13 chr5 16668415 16668415 + G G A Silent SNP ENST00000513610.6 exon40 c.C5937T p.A1979A exonic ENSG00000145555.15 . synonymous SNV ENSG00000145555.15:ENST00000513610.6:exon40:c.C5937T:p.A1979A 5p15.1 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO10 98 0 258 62 0.19375 TRUE TRUE ENSG00000069018.19 . BCM GRCh38.p13 chr5 136356917 136356917 + G G A Silent SNP ENST00000513104.6 exon2 c.C471T p.D157D exonic ENSG00000069018.19 . synonymous SNV ENSG00000069018.19:ENST00000513104.6:exon2:c.C471T:p.D157D 5q31.1 C3L-00598 8.278e-06 0 8.646e-05 0 0 0 0 0 rs753491646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61456624;OCCURENCE=1(prostate),1(upper_aerodigestive_tract) TRPC7 139 0 294 86 0.226315789473684 TRUE TRUE ENSG00000124587.14 . BCM GRCh38.p13 chr6 42964872 42964872 + C C T Silent SNP ENST00000304611.13 exon16 c.G2724A p.Q908Q exonic ENSG00000124587.14 . synonymous SNV ENSG00000124587.14:ENST00000304611.13:exon16:c.G2724A:p.Q908Q 6p21.1 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PEX6 773 0 1162 253 0.178798586572438 TRUE TRUE ENSG00000120899.18 . BCM GRCh38.p13 chr8 27422330 27422330 + C C T Silent SNP ENST00000346049.10 exon5 c.C498T p.Y166Y exonic ENSG00000120899.18 . synonymous SNV ENSG00000120899.18:ENST00000346049.10:exon5:c.C498T:p.Y166Y 8p21.2 C3L-00598 2.509e-05 9.735e-05 0 0 0 0 0 0.0001 rs527933742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTK2B 106 0 169 32 0.159203980099502 TRUE NA ENSG00000140396.13 . BCM GRCh38.p13 chr8 70121350 70121350 + G G A Silent SNP ENST00000452400.7 exon22 c.C4335T p.N1445N exonic ENSG00000140396.13 . synonymous SNV ENSG00000140396.13:ENST00000452400.7:exon22:c.C4335T:p.N1445N 8q13.3 C3L-00598 9.574e-06 0 0.0001 0 0 0 0 0 rs767106389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCOA2 245 0 558 111 0.165919282511211 TRUE NA ENSG00000095319.14 . BCM GRCh38.p13 chr9 128982954 128982954 + G G A Silent SNP ENST00000372577.2 exon17 c.G1722A p.K574K exonic ENSG00000095319.14 . synonymous SNV ENSG00000095319.14:ENST00000372577.2:exon17:c.G1722A:p.K574K 9q34.11 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUP188 248 0 264 83 0.239193083573487 TRUE TRUE ENSG00000150760.12 . BCM GRCh38.p13 chr10 127026372 127026372 + C C T Silent SNP ENST00000280333.9 exon16 c.C1509T p.D503D exonic ENSG00000150760.12 . synonymous SNV ENSG00000150760.12:ENST00000280333.9:exon16:c.C1509T:p.D503D 10q26.2 C3L-00598 3.481e-05 0 0 0 0 7.392e-05 0 0 rs370668962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DOCK1 356 0 612 157 0.204161248374512 TRUE NA ENSG00000183715.13 . BCM GRCh38.p13 chr11 132657112 132657112 + C C T Silent SNP ENST00000331898.11 exon2 c.G375A p.T125T exonic ENSG00000183715.13 . synonymous SNV ENSG00000183715.13:ENST00000331898.11:exon2:c.G375A:p.T125T 11q25 C3L-00598 1.649e-05 0 0 0 0 0 0 0.0001 rs548104590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59419763;OCCURENCE=1(large_intestine),1(endometrium) OPCML 175 0 306 90 0.227272727272727 TRUE TRUE ENSG00000103449.12 . BCM GRCh38.p13 chr16 51140230 51140230 + C C T Silent SNP ENST00000251020.9 exon2 c.G1992A p.P664P exonic ENSG00000103449.12 . synonymous SNV ENSG00000103449.12:ENST00000251020.9:exon2:c.G1992A:p.P664P 16q12.1 C3L-00598 0.0001 0 0 0.0015 0.0002 1.51e-05 0.0011 6.056e-05 rs754352358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SALL1 242 0 380 103 0.213250517598344 TRUE TRUE ENSG00000141519.15 . BCM GRCh38.p13 chr17 80084895 80084895 + C C T Silent SNP ENST00000397545.9 exon13 c.C2142T p.S714S exonic ENSG00000141519.15 . synonymous SNV ENSG00000141519.15:ENST00000397545.9:exon13:c.C2142T:p.S714S 17q25.3 C3L-00598 . . . . . . . . rs927736485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC40 646 2 917 229 0.199825479930192 TRUE NA ENSG00000105143.12 . BCM GRCh38.p13 chr19 14962172 14962172 + C C T Silent SNP ENST00000221742.7 exon5 c.G765A p.E255E exonic ENSG00000105143.12 . synonymous SNV ENSG00000105143.12:ENST00000221742.7:exon5:c.G765A:p.E255E 19p13.12 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC1A6 326 0 634 174 0.215346534653465 TRUE TRUE ENSG00000124191.18 . BCM GRCh38.p13 chr20 44006594 44006594 + G G A Silent SNP ENST00000358131.5 exon3 c.G240A p.P80P exonic ENSG00000124191.18 . synonymous SNV ENSG00000124191.18:ENST00000358131.5:exon3:c.G240A:p.P80P 20q13.12 C3L-00598 6.623e-05 0 0 0 0.0005 6.019e-05 0 6.075e-05 rs774698912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57881921;OCCURENCE=1(large_intestine),1(prostate) TOX2 172 0 369 98 0.209850107066381 TRUE TRUE ENSG00000287916.1 . BCM GRCh38.p13 chr3 156273636 156273636 + T T C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000287916.1 . . . 3q25.31 C3L-00598 . . . . . . . . . 0.13 T T . . . N . T N . T T . 0.023 0.488 0.072 . . . T T T T 0.152 2.598 0.713 N N -1.175 0.245 -1.395 0.154 0.000 0.487 0.574 0.574 0.613 . 0.149 -0.298 -0.718 -0.486 -0.644 0.040 0.023 0.048 766 . . . . AC091607.2 178 0 312 78 0.2 TRUE TRUE ENSG00000072832.15 . BCM GRCh38.p13 chr4 5892632 5892632 + C C T IGR SNP NA NA NA NA intergenic ENSG00000072832.15;ENSG00000181215.15 dist=4151;dist=4959 . . 4p16.2 C3L-00598 . . . . . . . . . 4.16 T T . . N N . D N 0.063 T T D 0.134 0.348 0.282 0.622 D . T T D T 2.328 21.700 0.985 N N -0.385 1.416 -0.294 1.577 0.999 0.726 0.590 0.594 0.563 . 4.420 1.100 0.615 0.927 0.483 0.996 0.992 0.947 981 . . . . CRMP1 10 0 29 11 0.275 TRUE TRUE ENSG00000187821.8 . BCM GRCh38.p13 chr4 185020774 185020774 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000187821.8 ENST00000515777.5:c.*2G>A . . 4q35.1 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100132915;OCCURENCE=1(cervix),1(lung) HELT 43 0 89 28 0.239316239316239 TRUE NA ENSG00000164199.18 . BCM GRCh38.p13 chr5 90781377 90781377 + - NA T Intron SNP NA NA NA NA intronic ENSG00000164199.18 . . . 5q14.3 C3L-00598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRV1 NA NA NA NA NA NA NA ENSG00000067798.16 . BCM GRCh38.p13 chr12 78037056 78037056 + C C T Intron SNP NA NA NA NA intronic ENSG00000067798.16 . . . 12q21.2 C3L-00598 . . . . . . . . . 1.3 . . . . . D . . . . . . . . . . . . . . . . T 1.013 11.790 0.773 N . . . . . 0.241 0.062 0.063 0.091 0.090 0.164 5.720 3.360 1.460 0.239 -0.060 0.937 0.623 0.712 931 . . . . NAV3 173 0 223 76 0.254180602006689 TRUE NA ENSG00000121073.15 . BCM GRCh38.p13 chr17 49707912 49707912 + C C A 5'UTR SNP NA NA NA NA UTR5 ENSG00000121073.15 ENST00000240333.12:c.-79G>T . . 17q21.33 C3L-00598 2.622e-05 0 0 0 0 5.186e-05 0 0 rs777342365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC35B1 182 0 453 131 0.224315068493151 TRUE NA ENSG00000162591.16 . BCM GRCh38.p13 chr1 3506126 3506126 + C C T Missense_Mutation SNP ENST00000356575.9 exon15 c.G1900A p.G634S exonic ENSG00000162591.16 . nonsynonymous SNV ENSG00000162591.16:ENST00000356575.9:exon15:c.G1900A:p.G634S 1p36.32 C3N-03430 2.206e-05 0 0 0 0 4.22e-05 0 0 rs746964214 15.20 D D D P U D H T D 0.939 D T D 0.440 0.563 0.848 0.361 D T D D D D 4.180 28.500 0.998 D D 0.756 7.984 0.630 6.626 1.000 0.651 0.547 0.645 0.684 . 3.770 3.770 7.681 0.919 0.566 1.000 0.817 0.951 982 EGF-like,_conserved_site;EGF-like_domain;Laminin_EGF_domain . . . MEGF6 212 1 350 91 0.206349206349206 TRUE NA ENSG00000142627.13 . BCM GRCh38.p13 chr1 16148998 16148998 + G G T Missense_Mutation SNP ENST00000358432.8 exon3 c.C203A p.S68Y exonic ENSG00000142627.13 . nonsynonymous SNV ENSG00000142627.13:ENST00000358432.8:exon3:c.C203A:p.S68Y 1p36.13 C3N-03430 . . . . . . . . . 8.20 D D D P N D L T N 0.283 T T D 0.199 0.789 0.467 1.158 T T T T D D 3.628 25.100 0.989 D N 0.464 4.766 0.470 4.897 1.000 0.722 0.547 0.702 0.735 . 5.350 5.350 1.504 1.176 0.676 0.818 0.998 0.998 365 Ephrin_type-A_receptor_2,_ligand_binding_domain;Ephrin_receptor_ligand_binding_domain . . . EPHA2 388 0 612 140 0.186170212765957 TRUE TRUE ENSG00000143631.11 . BCM GRCh38.p13 chr1 152309152 152309152 + T T A Missense_Mutation SNP ENST00000368799.2 exon3 c.A5734T p.R1912W exonic ENSG00000143631.11 . nonsynonymous SNV ENSG00000143631.11:ENST00000368799.2:exon3:c.A5734T:p.R1912W 1q21.3 C3N-03430 . . . . . . . . . 6.18 D . D D . N M T D 0.099 T T T 0.040 0.368 0.365 . T T T T D T 1.727 17.210 0.983 N N -0.429 1.321 -0.770 0.801 0.000 0.554 0.574 0.574 0.621 . 3.450 -3.610 -0.666 0.841 0.321 0.000 0.001 0.002 564 . . . . FLG 802 0 1337 116 0.0798348245010324 NA TRUE ENSG00000163207.7 . BCM GRCh38.p13 chr1 152911083 152911083 + A A G Missense_Mutation SNP ENST00000368764.4 exon2 c.A1286G p.Q429R exonic ENSG00000163207.7 . nonsynonymous SNV ENSG00000163207.7:ENST00000368764.4:exon2:c.A1286G:p.Q429R 1q21.3 C3N-03430 . . . . . . . . . 2.19 T D P P . N L T N 0.166 T T D 0.056 0.233 0.510 0.019 T T T T T T 1.443 15.370 0.957 N N -0.356 1.481 -0.522 1.167 1.000 0.615 0.634 0.574 0.564 . 3.470 3.470 -2.148 0.093 0.629 0.000 0.001 0.002 792 . . . ID=COSV100908206;OCCURENCE=1(large_intestine) IVL 242 0 400 38 0.0867579908675799 TRUE TRUE ENSG00000162738.6 . BCM GRCh38.p13 chr1 160419153 160419153 + T T C Missense_Mutation SNP ENST00000368061.3 exon4 c.T344C p.L115P exonic ENSG00000162738.6 . nonsynonymous SNV ENSG00000162738.6:ENST00000368061.3:exon4:c.T344C:p.L115P 1q23.2 C3N-03430 . . . . . . . . . 18.20 D D D D D D M D D 0.972 D D D 0.940 0.750 0.961 1.777 T D D D D T 3.836 26.000 0.999 D D 0.740 7.721 0.663 7.106 1.000 0.707 0.588 0.725 0.542 . 4.930 4.930 5.905 1.055 0.660 1.000 0.992 0.898 764 . . . . VANGL2 202 0 308 68 0.180851063829787 TRUE TRUE ENSG00000130508.11 . BCM GRCh38.p13 chr2 1644735 1644735 + A A G Missense_Mutation SNP ENST00000252804.9 exon18 c.T3626C p.L1209P exonic ENSG00000130508.11 . nonsynonymous SNV ENSG00000130508.11:ENST00000252804.9:exon18:c.T3626C:p.L1209P 2p25.3 C3N-03430 . . . . . . . . . 8.20 T T P P N D L T N 0.783 T T D 0.406 0.576 0.683 1.389 T T D D D D 3.183 23.800 0.996 D D 0.250 3.533 0.206 3.213 1.000 0.707 0.588 0.644 0.714 . 5.420 5.420 4.039 1.251 0.756 0.983 0.271 0.402 824 Peroxidasin,_peroxidase_domain . . . PXDN 95 1 174 12 0.0645161290322581 TRUE TRUE ENSG00000218819.6 . BCM GRCh38.p13 chr2 21137606 21137606 + C C G Missense_Mutation SNP ENST00000405799.3 exon4 c.C139G p.Q47E exonic ENSG00000218819.6 . nonsynonymous SNV ENSG00000218819.6:ENST00000405799.3:exon4:c.C139G:p.Q47E 2p24.1 C3N-03430 . . . . . . . . . 6.14 D D . . . . . T N 0.366 T T D 0.164 0.357 0.193 . . T T T D T 3.023 23.500 0.989 D D 0.219 3.387 0.297 3.697 1.000 0.487 0.574 0.574 0.564 . 5.390 5.390 7.352 1.018 0.589 1.000 0.940 0.932 691 Tudor_domain . . . TDRD15 83 0 147 12 0.0754716981132075 TRUE TRUE ENSG00000170577.8 . BCM GRCh38.p13 chr2 45008827 45008827 + G G A Missense_Mutation SNP ENST00000303077.7 exon1 c.C284T p.A95V exonic ENSG00000170577.8 . nonsynonymous SNV ENSG00000170577.8:ENST00000303077.7:exon1:c.C284T:p.A95V 2p21 C3N-03430 . . . . . . . . . 19.20 D D D P D D M D D 0.733 D D D 0.753 0.533 0.846 1.809 D D D D D D 4.659 32 0.999 D D 0.775 8.309 0.727 8.286 1.000 0.652 0.596 0.666 0.710 . 4.580 4.580 10.003 1.176 0.676 1.000 1.000 0.998 807 Homeobox_protein_SIX1,_N-terminal_SD_domain . . ID=COSV57390105;OCCURENCE=2(large_intestine) SIX2 362 0 642 80 0.110803324099723 TRUE TRUE ENSG00000135636.14 . BCM GRCh38.p13 chr2 71574222 71574222 + G G A Missense_Mutation SNP ENST00000258104.7 exon30 c.G3199A p.E1067K exonic ENSG00000135636.14 . nonsynonymous SNV ENSG00000135636.14:ENST00000258104.7:exon30:c.G3199A:p.E1067K 2p13.2 C3N-03430 . . . . . . . . . 18.20 D T D D D D M D D 0.765 D D D 0.675 0.496 0.935 0.615 T D D D D D 3.578 25.000 0.999 D D 0.807 8.915 0.803 10.211 1.000 0.707 0.547 0.645 0.714 . 5.600 5.600 9.530 1.176 0.676 1.000 0.808 0.670 453 . . . . DYSF 218 0 394 37 0.08584686774942 TRUE NA ENSG00000155657.27 . BCM GRCh38.p13 chr2 178560105 178560105 + A A C Missense_Mutation SNP ENST00000591111.5 exon276 c.T81104G p.L27035R exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon276:c.T81104G:p.L27035R 2q31.2 C3N-03430 . . . . . . . . . 8.17 T . D D . D L T D 0.892 T T T 0.466 0.535 0.755 0.532 T . D T T D 2.796 23.000 0.794 D D 0.498 5.018 0.479 4.971 1.000 0.554 0.588 0.545 0.613 . 5.870 5.870 6.158 1.312 0.756 0.993 0.346 0.310 457 Fibronectin_type_III . . . TTN 127 0 200 15 0.0697674418604651 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178565278 178565278 + C C T Missense_Mutation SNP ENST00000591111.5 exon276 c.G75931A p.V25311I exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon276:c.G75931A:p.V25311I 2q31.2 C3N-03430 8.294e-05 0.0001 8.667e-05 0 0 0.0001 0 0 rs371362606 0.17 T . B B . N N T N 0.082 T T T 0.015 . 0.072 0.069 T . T T T T -1.487 0.001 0.811 N N -1.564 0.064 -1.599 0.075 0.505 0.554 0.602 0.547 0.621 . 5.670 -7.050 -0.830 -2.627 -3.675 0.000 0.002 0.048 434 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV59868478;OCCURENCE=2(large_intestine) TTN 189 0 331 26 0.0728291316526611 TRUE NA ENSG00000155657.27 . BCM GRCh38.p13 chr2 178733476 178733476 + T T C Missense_Mutation SNP ENST00000591111.5 exon52 c.A14866G p.T4956A exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon52:c.A14866G:p.T4956A 2q31.2 C3N-03430 . . . . . . . . . 6.16 T . D P . D . T D 0.251 T T D 0.348 0.440 0.461 0.395 T . T T T T 3.152 23.700 0.951 D D 0.716 7.355 0.745 8.694 1.000 0.487 0.574 0.574 0.564 . 5.860 5.860 7.985 1.138 0.665 1.000 1.000 0.996 341 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 97 0 195 21 0.0972222222222222 TRUE TRUE ENSG00000144406.19 . BCM GRCh38.p13 chr2 209793760 209793760 + T T C Missense_Mutation SNP ENST00000439458.5 exon7 c.T839C p.I280T exonic ENSG00000144406.19 . nonsynonymous SNV ENSG00000144406.19:ENST00000439458.5:exon7:c.T839C:p.I280T 2q34 C3N-03430 8.237e-06 0 0 0 0 0 0 6.056e-05 rs749870075 4.20 D D B B N N N T N 0.196 T T T 0.015 0.212 0.158 0.400 T T T T T D 2.051 19.650 0.985 D N -0.238 1.773 -0.027 2.271 0.000 0.554 0.547 0.602 0.564 . 5.110 5.110 3.506 1.138 0.660 1.000 0.997 0.996 814 . . . . UNC80 205 1 391 42 0.0969976905311778 TRUE NA ENSG00000178568.15 . BCM GRCh38.p13 chr2 211630560 211630560 + G G T Missense_Mutation SNP ENST00000342788.9 exon17 c.C1981A p.L661I exonic ENSG00000178568.15 . nonsynonymous SNV ENSG00000178568.15:ENST00000342788.9:exon17:c.C1981A:p.L661I 2q34 C3N-03430 . . . . . . . . . 8.20 T T P B D D M T N 0.616 T T T 0.284 0.390 0.669 0.519 D T T T D D 2.602 22.600 0.988 D D 0.438 4.591 0.544 5.588 1.000 0.487 0.574 0.574 0.564 . 5.580 5.580 6.401 1.176 0.618 1.000 0.998 0.997 768 . . . . ERBB4 370 0 632 136 0.177083333333333 TRUE TRUE ENSG00000197938.5 . BCM GRCh38.p13 chr3 98283605 98283605 + A A G Missense_Mutation SNP ENST00000355273.2 exon1 c.A718G p.R240G exonic ENSG00000197938.5 . nonsynonymous SNV ENSG00000197938.5:ENST00000355273.2:exon1:c.A718G:p.R240G 3q11.2 C3N-03430 8.265e-06 0 0 0 0 0 0 6.059e-05 rs745774293 1.20 T T B B U N L T D 0.201 T T T 0.022 0.353 0.353 0.020 T T T T T T 0.868 10.100 0.828 N N -0.861 0.571 -0.925 0.586 0.000 0.487 0.574 0.574 0.564 . 3.030 1.790 0.327 1.174 0.665 0.000 0.796 0.569 756 GPCR,_rhodopsin-like,_7TM . . . OR5H2 199 1 447 34 0.0706860706860707 TRUE NA ENSG00000175093.5 . BCM GRCh38.p13 chr3 141066546 141066546 + C C T Missense_Mutation SNP ENST00000310546.3 exon2 c.C442T p.R148C exonic ENSG00000175093.5 . nonsynonymous SNV ENSG00000175093.5:ENST00000310546.3:exon2:c.C442T:p.R148C 3q23 C3N-03430 8.518e-05 0 0 0.0010 0 0 0 0 rs374257422 12.20 D T D P D D M T D 0.459 T T D 0.355 . 0.772 1.584 T T D T D D 4.339 29.900 0.999 D D 0.644 6.407 0.613 6.392 1.000 0.696 0.590 0.723 0.542 . 5.030 4.070 5.605 1.022 0.596 1.000 1.000 0.999 687 0.000 . . . SPSB4 40 0 88 15 0.145631067961165 TRUE NA ENSG00000172238.6 . BCM GRCh38.p13 chr4 93829506 93829509 + AAGC AAGC - Frame_Shift_Del DEL ENST00000306011.6 exon1 c.580_583del p.K194Cfs*108 exonic ENSG00000172238.6 . frameshift deletion ENSG00000172238.6:ENST00000306011.6:exon1:c.580_583del:p.K194Cfs*108 4q22.2 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATOH1 317 0 473 84 0.1508078994614 TRUE TRUE ENSG00000164056.11 . BCM GRCh38.p13 chr4 123402541 123402541 + - NA ACTTT Frame_Shift_Ins INS ENST00000651917.1 exon3 c.950_951insACTTT p.P318Lfs*60 exonic ENSG00000164056.11 . frameshift insertion ENSG00000164056.11:ENST00000651917.1:exon3:c.950_951insACTTT:p.P318Lfs*60 4q28.1 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPRY1 NA NA NA NA NA NA NA ENSG00000196159.12 . BCM GRCh38.p13 chr4 125317162 125317162 + G G A Missense_Mutation SNP ENST00000674496.1 exon1 c.G751A p.G251S exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon1:c.G751A:p.G251S 4q28.1 C3N-03430 . . . . . . . . . 1.20 T T B B U N N T N 0.091 T T T 0.057 0.239 0.082 0.148 T T T T T T 2.188 20.800 0.950 D N -0.695 0.820 -0.460 1.267 1.000 0.447 0.563 0.504 0.373 . 5.130 3.340 3.270 0.230 -0.106 1.000 0.989 0.943 932 Cadherin-like . . . FAT4 74 0 107 28 0.207407407407407 TRUE TRUE ENSG00000170561.13 . BCM GRCh38.p13 chr5 2749600 2749600 + T T C Missense_Mutation SNP ENST00000302057.6 exon2 c.A437G p.E146G exonic ENSG00000170561.13 . nonsynonymous SNV ENSG00000170561.13:ENST00000302057.6:exon2:c.A437G:p.E146G 5p15.33 C3N-03430 . . . . . . . . . 20.20 D D D D D D H D D 0.919 D D D 0.926 0.696 0.958 2.812 D D D D D D 4.650 32 0.999 D D 0.864 10.165 0.775 9.433 1.000 0.767 0.574 0.851 0.639 . 4.850 4.850 7.665 1.134 0.661 1.000 1.000 1.000 946 Homeobox_KN_domain;Homeobox_domain . . . IRX2 536 0 877 75 0.078781512605042 TRUE TRUE ENSG00000037749.12 . BCM GRCh38.p13 chr5 154049822 154049822 + G G A Missense_Mutation SNP ENST00000322602.9 exon2 c.G100A p.E34K exonic ENSG00000037749.12 . nonsynonymous SNV ENSG00000037749.12:ENST00000322602.9:exon2:c.G100A:p.E34K 5q33.2 C3N-03430 . . . . . . . . . 2.20 T T B B N D N T N 0.119 T T T 0.062 0.438 0.442 . T T T T T T 1.685 16.930 0.991 D N -0.440 1.298 -0.307 1.549 1.000 0.737 0.616 0.733 0.711 . 6.020 5.150 4.038 1.176 0.676 0.870 0.894 0.836 835 . . . . MFAP3 275 0 571 40 0.0654664484451719 TRUE TRUE ENSG00000113262.16 . BCM GRCh38.p13 chr5 178989061 178989061 + C C T Missense_Mutation SNP ENST00000517717.3 exon7 c.G1228A p.A410T exonic ENSG00000113262.16 . nonsynonymous SNV ENSG00000113262.16:ENST00000517717.3:exon7:c.G1228A:p.A410T 5q35.3 C3N-03430 . . . . . . . . . 18.19 D D D D . D M D D 0.933 D D D 0.800 0.707 0.931 0.366 T D D D D D 4.013 27.100 0.999 D D 0.790 8.594 0.725 8.239 1.000 0.487 0.574 0.547 0.613 . 5.220 5.220 7.798 0.962 0.524 1.000 0.775 0.483 720 Receptor,_ligand_binding_region . . . GRM6 606 0 1091 110 0.0915903413821815 TRUE TRUE ENSG00000156564.9 . BCM GRCh38.p13 chr6 40432957 40432957 + G G A Missense_Mutation SNP ENST00000338305.7 exon2 c.C157T p.R53W exonic ENSG00000156564.9 . nonsynonymous SNV ENSG00000156564.9:ENST00000338305.7:exon2:c.C157T:p.R53W 6p21.2 C3N-03430 0.0001 0 0 0 0.0002 0.0002 0 0 rs367755986 12.20 D D D D D D L T D 0.651 T T T 0.332 . 0.650 1.101 D D T T T D 3.193 23.800 0.999 D D 0.228 3.428 0.125 2.838 0.074 0.554 0.574 0.602 0.564 . 5.760 1.710 0.294 0.161 0.676 0.969 0.998 0.976 946 . . . ID=COSV57825758;OCCURENCE=3(pancreas) LRFN2 103 0 190 33 0.147982062780269 TRUE TRUE ENSG00000172469.16 . BCM GRCh38.p13 chr6 95605978 95605978 + A A G Missense_Mutation SNP ENST00000358812.9 exon5 c.A962G p.Y321C exonic ENSG00000172469.16 . nonsynonymous SNV ENSG00000172469.16:ENST00000358812.9:exon5:c.A962G:p.Y321C 6q16.1 C3N-03430 . . . . . . . . . 19.20 D D D D D D M D D 0.908 D D D 0.906 0.911 0.990 0.324 D T D D D D 4.199 28.600 0.998 D D 0.980 13.298 0.945 15.807 1.000 0.707 0.725 0.659 0.564 . 6.170 6.170 8.836 1.311 0.756 1.000 1.000 1.000 912 . . . . MANEA 136 0 222 29 0.115537848605578 TRUE TRUE ENSG00000122566.21 . BCM GRCh38.p13 chr7 26193347 26193347 + C C G Missense_Mutation SNP ENST00000354667.8 exon10 c.G904C p.D302H exonic ENSG00000122566.21 . nonsynonymous SNV ENSG00000122566.21:ENST00000354667.8:exon10:c.G904C:p.D302H 7p15.2 C3N-03430 . . . . . . . . . 20.20 D D D D D D M D D 0.756 D D D 0.635 0.270 0.898 2.464 D D D D D D 3.882 26.200 0.988 D D 0.620 6.137 0.652 6.947 1.000 0.722 0.686 0.702 0.735 . 5.750 5.750 4.878 1.008 0.599 1.000 1.000 0.998 699 . . . . HNRNPA2B1 98 0 200 18 0.0825688073394495 TRUE TRUE ENSG00000106571.14 . BCM GRCh38.p13 chr7 42148279 42148279 + C C T Missense_Mutation SNP ENST00000395925.8 exon3 c.G314A p.R105H exonic ENSG00000106571.14 . nonsynonymous SNV ENSG00000106571.14:ENST00000395925.8:exon3:c.G314A:p.R105H 7p14.1 C3N-03430 2.785e-05 0 9.636e-05 0 0 0 0 0.0001 rs750890677 12.20 D D D D D D L T N 0.793 T T D 0.319 0.306 0.705 0.688 T T T D D D 3.572 24.900 1.000 D D 0.618 6.115 0.627 6.581 1.000 0.706 0.574 0.710 0.636 . 5.830 5.830 7.542 1.025 0.599 1.000 0.477 0.253 916 . . . ID=COSV67889940;OCCURENCE=1(large_intestine),1(stomach),1(haematopoietic_and_lymphoid_tissue),1(upper_aerodigestive_tract) GLI3 226 0 450 46 0.092741935483871 TRUE TRUE ENSG00000244219.7 . BCM GRCh38.p13 chr7 99607712 99607712 + A A G Missense_Mutation SNP ENST00000431679.6 exon5 c.A395G p.E132G exonic ENSG00000244219.7 . nonsynonymous SNV ENSG00000244219.7:ENST00000431679.6:exon5:c.A395G:p.E132G 7q22.1 C3N-03430 . . . . . . . . . 1.2 . . . . . . . . . . . . . . . . . . . . . . T 2.852 23.100 0.714 D . . . . . 0.979 0.081 0.085 0.121 0.106 0.132 3.400 2.210 2.426 1.118 0.756 1.000 0.988 0.899 146 . . . . TMEM225B 189 2 336 96 0.222222222222222 TRUE NA ENSG00000106278.12 . BCM GRCh38.p13 chr7 121972671 121972671 + A A C Missense_Mutation SNP ENST00000393386.7 exon4 c.A435C p.E145D exonic ENSG00000106278.12 . nonsynonymous SNV ENSG00000106278.12:ENST00000393386.7:exon4:c.A435C:p.E145D 7q31.32 C3N-03430 . . . . . . . . . 6.20 T T B B D D N T N 0.415 T T D 0.085 0.335 0.187 0.463 T T T T D D 2.091 19.950 0.993 D N -0.228 1.800 0.031 2.470 0.715 0.706 0.574 0.710 0.564 . 5.720 5.720 3.150 1.312 0.756 1.000 1.000 1.000 644 Alpha_carbonic_anhydrase_domain . . . PTPRZ1 96 0 214 18 0.0775862068965517 TRUE TRUE ENSG00000147724.12 . BCM GRCh38.p13 chr8 138151379 138151379 + G G T Missense_Mutation SNP ENST00000395297.6 exon13 c.C3096A p.N1032K exonic ENSG00000147724.12 . nonsynonymous SNV ENSG00000147724.12:ENST00000395297.6:exon13:c.C3096A:p.N1032K 8q24.23 C3N-03430 . . . . . . . . . 13.20 D D D D D D M T D 0.648 T T D 0.141 0.329 0.103 0.325 T T T T D D 3.268 24.000 0.996 D D 0.232 3.447 0.070 2.614 0.000 0.487 0.574 0.574 0.564 . 5.330 2.130 2.828 1.176 0.676 1.000 0.913 0.854 956 . . . . FAM135B 96 0 157 18 0.102857142857143 TRUE TRUE ENSG00000108021.20 . BCM GRCh38.p13 chr10 5747398 5747398 + C C T Missense_Mutation SNP ENST00000328090.9 exon15 c.C3977T p.P1326L exonic ENSG00000108021.20 . nonsynonymous SNV ENSG00000108021.20:ENST00000328090.9:exon15:c.C3977T:p.P1326L 10p15.1 C3N-03430 1.658e-05 0 8.646e-05 0 0 1.5e-05 0 0 rs564549297 3.20 T D P B N N M T D 0.295 T T T 0.161 0.283 0.134 0.084 T T T T T T 1.139 13.130 0.979 N N -0.179 1.937 -0.270 1.628 1.000 0.707 0.725 0.702 0.714 . 5.550 4.640 1.660 1.026 0.549 0.003 0.173 0.006 548 . . . . TASOR2 210 0 308 153 0.331887201735358 TRUE NA ENSG00000187522.16 . BCM GRCh38.p13 chr10 14839905 14839905 + G G A Missense_Mutation SNP ENST00000378372.8 exon2 c.G58A p.D20N exonic ENSG00000187522.16 . nonsynonymous SNV ENSG00000187522.16:ENST00000378372.8:exon2:c.G58A:p.D20N 10p13 C3N-03430 . . . . . . . . . 10.20 T D D D D D N T N 0.480 T T D 0.249 0.426 0.482 0.933 T T T T D D 5.180 33 0.997 D D 0.637 6.323 0.710 7.935 1.000 0.722 0.686 0.699 0.639 . 5.610 5.610 7.146 1.176 0.676 1.000 0.989 0.952 840 . . . . HSPA14 198 0 320 185 0.366336633663366 TRUE TRUE ENSG00000260314.3 . BCM GRCh38.p13 chr10 17866642 17866642 + A A C Missense_Mutation SNP ENST00000569591.3 exon12 c.A1864C p.K622Q exonic ENSG00000260314.3 . nonsynonymous SNV ENSG00000260314.3:ENST00000569591.3:exon12:c.A1864C:p.K622Q 10p12.33 C3N-03430 . . . . . . . . . 11.20 D D D D U D M T D 0.371 T T T 0.250 0.606 0.502 . T T T T D D 4.092 27.700 0.995 D D 0.363 4.125 0.361 4.094 0.001 0.487 0.574 0.574 0.564 . 4.250 4.250 8.947 1.302 0.756 1.000 0.998 0.974 900 C-type_lectin-like . . . MRC1 489 2 908 80 0.0809716599190283 TRUE TRUE ENSG00000225830.14 . BCM GRCh38.p13 chr10 49524090 49524090 + C C G Missense_Mutation SNP ENST00000355832.10 exon5 c.G1340C p.R447P exonic ENSG00000225830.14 . nonsynonymous SNV ENSG00000225830.14:ENST00000355832.10:exon5:c.G1340C:p.R447P 10q11.23 C3N-03430 . . . . . . . . . 8.19 D D B B . D M D N 0.282 T T D 0.078 0.413 0.603 0.545 T T T T D T 2.591 22.600 0.995 D N -0.349 1.498 -0.279 1.608 1.000 0.707 0.725 0.659 0.714 . 6.020 4.080 3.666 0.130 -0.176 0.995 0.021 0.731 707 . . . . ERCC6 230 0 490 36 0.0684410646387833 NA TRUE ENSG00000138336.9 . BCM GRCh38.p13 chr10 68645587 68645587 + T T C Missense_Mutation SNP ENST00000373644.5 exon4 c.T2858C p.L953P exonic ENSG00000138336.9 . nonsynonymous SNV ENSG00000138336.9:ENST00000373644.5:exon4:c.T2858C:p.L953P 10q21.3 C3N-03430 . . . . . . . . . 4.20 D D B B N N M T N 0.300 T T T 0.042 0.155 0.043 0.081 T T T T D T 1.362 14.830 0.996 N N -0.812 0.637 -0.840 0.702 0.005 0.672 0.588 0.702 0.621 . 5.310 1.590 1.403 1.138 0.665 0.008 0.118 0.183 645 . . . . TET1 148 0 271 33 0.108552631578947 TRUE TRUE ENSG00000107518.18 . BCM GRCh38.p13 chr10 115300059 115300059 + G G A Missense_Mutation SNP ENST00000355044.8 exon16 c.G2441A p.R814H exonic ENSG00000107518.18 . nonsynonymous SNV ENSG00000107518.18:ENST00000355044.8:exon16:c.G2441A:p.R814H 10q25.3 C3N-03430 4.947e-05 0 0 0.0001 0.0003 3e-05 0 6.066e-05 rs781892443 8.20 T T D D D D L T N 0.822 T T T 0.376 . 0.430 0.939 D T T T T D 3.929 26.500 0.999 D D 0.857 9.998 0.879 12.865 1.000 0.638 0.588 0.653 0.564 . 5.760 5.760 10.003 1.176 0.676 1.000 1.000 0.996 848 C-type_lectin-like;Attractin-like,_C-type_lectin-like_domain . . ID=COSV58075293;OCCURENCE=4(large_intestine),1(ovary),1(haematopoietic_and_lymphoid_tissue),2(stomach),1(pancreas),2(lung) ATRNL1 129 1 175 50 0.222222222222222 TRUE TRUE ENSG00000182070.5 . BCM GRCh38.p13 chr11 5151933 5151933 + A A C Missense_Mutation SNP ENST00000380367.2 exon2 c.T437G p.I146R exonic ENSG00000182070.5 . nonsynonymous SNV ENSG00000182070.5:ENST00000380367.2:exon2:c.T437G:p.I146R 11p15.4 C3N-03430 . . . . . . . . . 7.20 D D B B N N H T D 0.613 T T T 0.265 0.813 0.421 0.044 T T T T D T 1.930 18.720 0.964 D D 0.011 2.549 -0.021 2.289 1.000 0.615 0.574 0.659 0.564 . 5.280 5.280 2.481 0.315 0.691 0.179 0.003 0.094 834 GPCR,_rhodopsin-like,_7TM . . . OR52A1 192 0 366 37 0.0918114143920596 TRUE TRUE ENSG00000149050.10 . BCM GRCh38.p13 chr11 7000937 7000937 + C C T Missense_Mutation SNP ENST00000278314.5 exon3 c.G746A p.C249Y exonic ENSG00000149050.10 . nonsynonymous SNV ENSG00000149050.10:ENST00000278314.5:exon3:c.G746A:p.C249Y 11p15.4 C3N-03430 . . . . . . . . . 6.20 D D B B N N H T D 0.279 T T T 0.147 0.813 0.367 0.029 T T T T D T 0.370 5.086 0.636 D N -0.518 1.141 -0.649 0.973 0.889 0.638 0.574 0.653 0.568 . 3.750 0.312 1.358 0.038 -0.182 0.006 0.003 0.003 809 Zinc_finger_C2H2-type . . . ZNF214 159 0 276 18 0.0612244897959184 TRUE TRUE ENSG00000176200.1 . BCM GRCh38.p13 chr11 59503891 59503891 + C C A Missense_Mutation SNP ENST00000313253.1 exon1 c.C316A p.L106I exonic ENSG00000176200.1 . nonsynonymous SNV ENSG00000176200.1:ENST00000313253.1:exon1:c.C316A:p.L106I 11q12.1 C3N-03430 . . . . . . . . . 1.20 D T P P N N L T N 0.114 T T T 0.061 0.382 0.262 0.035 T T T T T T 1.635 16.600 0.991 N N -0.186 1.916 -0.186 1.821 0.190 0.428 0.469 0.547 0.613 . 5.440 3.580 -2.633 0.127 0.526 0.000 0.025 0.986 308 GPCR,_rhodopsin-like,_7TM . . . OR4D11 234 0 460 45 0.0891089108910891 TRUE TRUE ENSG00000110046.13 . BCM GRCh38.p13 chr11 64914159 64914159 + G G A Missense_Mutation SNP ENST00000377264.8 exon3 c.C409T p.R137W exonic ENSG00000110046.13 . nonsynonymous SNV ENSG00000110046.13:ENST00000377264.8:exon3:c.C409T:p.R137W 11q13.1 C3N-03430 9.971e-05 0 0 0 0 0.0001 0 0.0001 rs756230306 11.20 D D D P D D L T D 0.304 T T D 0.174 0.324 0.264 1.345 T T T T D D 3.457 24.600 0.999 D D 0.439 4.592 0.430 4.578 1.000 0.696 0.611 0.723 0.636 . 4.220 4.220 4.046 0.221 -0.111 1.000 0.011 0.074 300 . . . . ATG2A 219 0 347 30 0.0795755968169761 TRUE NA ENSG00000175550.8 . BCM GRCh38.p13 chr11 65919795 65919795 + A A C Missense_Mutation SNP ENST00000312515.7 exon2 c.A58C p.I20L exonic ENSG00000175550.8 . nonsynonymous SNV ENSG00000175550.8:ENST00000312515.7:exon2:c.A58C:p.I20L 11q13.1 C3N-03430 . . . . . . . . . 13.20 D D D D N D M T N 0.705 T T D 0.463 0.785 0.757 2.476 D T D T D D 4.346 29.900 0.993 D D 0.649 6.460 0.564 5.797 1.000 0.733 0.522 0.594 0.622 . 3.860 3.860 3.206 1.294 0.740 1.000 1.000 1.000 232 Transcription_factor_CBF/NF-Y/archaeal_histone_domain . . . DRAP1 376 0 649 142 0.179519595448799 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3N-03430 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 247 0 493 189 0.277126099706745 TRUE TRUE ENSG00000167528.12 . BCM GRCh38.p13 chr12 48343367 48343367 + A A T Missense_Mutation SNP ENST00000544117.6 exon6 c.T923A p.I308N exonic ENSG00000167528.12 . nonsynonymous SNV ENSG00000167528.12:ENST00000544117.6:exon6:c.T923A:p.I308N 12q13.11 C3N-03430 . . . . . . . . . 5.20 D D B B N N N T D 0.439 T T T 0.074 0.395 0.267 0.808 T T T T D D 2.683 22.800 0.992 N N -0.250 1.742 -0.140 1.938 0.989 0.615 0.577 0.659 0.636 . 5.670 4.510 -0.106 1.312 0.756 0.000 0.991 0.994 551 Zinc_finger_C2H2-type . . . ZNF641 390 1 631 137 0.178385416666667 TRUE TRUE ENSG00000197651.4 . BCM GRCh38.p13 chr12 90953591 90953591 + T T A Missense_Mutation SNP ENST00000358859.3 exon1 c.A1152T p.L384F exonic ENSG00000197651.4 . nonsynonymous SNV ENSG00000197651.4:ENST00000358859.3:exon1:c.A1152T:p.L384F 12q21.33 C3N-03430 . . . . . . . . . 0.20 T T B B N N N T N 0.067 T T T 0.032 0.256 0.088 0.313 T T T T T T 1.278 14.220 0.877 N N -0.616 0.959 -0.566 1.098 0.000 0.487 0.574 0.547 0.564 . 5.410 0.241 0.460 1.138 0.609 0.990 0.029 0.029 922 . . . . CCER1 159 1 314 31 0.0898550724637681 TRUE TRUE ENSG00000173064.13 . BCM GRCh38.p13 chr12 112184442 112184443 + AG AG - Frame_Shift_Del DEL ENST00000377560.9 exon61 c.10517_10518del p.S3506Cfs*93 exonic ENSG00000173064.13 . frameshift deletion ENSG00000173064.13:ENST00000377560.9:exon61:c.10517_10518del:p.S3506Cfs*93 12q24.13 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HECTD4 152 0 236 56 0.191780821917808 TRUE TRUE ENSG00000121742.19 . BCM GRCh38.p13 chr13 20223428 20223428 + G G T Missense_Mutation SNP ENST00000647029.1 exon5 c.C53A p.T18N exonic ENSG00000121742.19 . nonsynonymous SNV ENSG00000121742.19:ENST00000647029.1:exon5:c.C53A:p.T18N 13q12.11 C3N-03430 . . . . . . . . . 19.20 D D D D D D M D D 0.960 D D D 0.941 0.830 0.969 0.531 T D D D D D 3.927 26.500 0.994 D D 1.026 14.750 0.958 16.483 1.000 0.487 0.590 0.574 0.542 . 5.380 5.380 9.940 1.176 0.676 1.000 1.000 0.990 589 Connexin,_N-terminal . . . GJB6 535 0 996 95 0.0870760769935839 TRUE TRUE ENSG00000176435.7 . BCM GRCh38.p13 chr14 38255896 38255896 + C C T Missense_Mutation SNP ENST00000342213.3 exon1 c.G127A p.A43T exonic ENSG00000176435.7 . nonsynonymous SNV ENSG00000176435.7:ENST00000342213.3:exon1:c.G127A:p.A43T 14q21.1 C3N-03430 . . . . . . . . . 5.20 T D D P N N L T N 0.318 T T D 0.087 0.370 0.654 1.543 T T T T D T 3.610 25.100 0.999 D N -0.037 2.382 -0.029 2.264 1.000 0.487 0.574 0.607 0.562 . 3.960 2.030 1.284 1.026 0.549 0.995 0.997 0.984 805 C-type_lectin-like . . . CLEC14A 394 0 643 49 0.0708092485549133 TRUE TRUE ENSG00000211899.10 . BCM GRCh38.p13 chr14 105856185 105856185 + C C T Missense_Mutation SNP ENST00000637539.2 exon1 c.G34A p.V12I exonic ENSG00000211899.10 . nonsynonymous SNV ENSG00000211899.10:ENST00000637539.2:exon1:c.G34A:p.V12I 14q32.33 C3N-03430 3.773e-05 0 0.0003 0 0 0 0 9.925e-05 rs781905207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHM 211 1 287 57 0.165697674418605 TRUE NA ENSG00000137815.14 . BCM GRCh38.p13 chr15 41438348 41438348 + C C T Missense_Mutation SNP ENST00000389629.8 exon2 c.C226T p.R76C exonic ENSG00000137815.14 . nonsynonymous SNV ENSG00000137815.14:ENST00000389629.8:exon2:c.C226T:p.R76C 15q15.1 C3N-03430 . . . . . . . . . 12.19 D D D D U D L . D 0.583 T T T 0.176 0.270 0.620 2.166 D T D D D D 3.977 26.800 0.999 D N 0.392 4.295 0.344 3.984 1.000 0.732 0.725 0.744 0.714 . 5.100 3.070 1.643 1.026 0.599 1.000 1.000 0.997 201 . . . . RTF1 162 0 283 24 0.0781758957654723 TRUE TRUE ENSG00000174197.16 . BCM GRCh38.p13 chr15 41696971 41696971 + A A C Missense_Mutation SNP ENST00000219905.11 exon3 c.A1961C p.K654T exonic ENSG00000174197.16 . nonsynonymous SNV ENSG00000174197.16:ENST00000219905.11:exon3:c.A1961C:p.K654T 15q15.1 C3N-03430 . . . . . . . . . 10.18 D D . . N D L T D 0.701 T T D 0.295 0.187 0.235 0.529 T T D T D D 3.773 25.700 0.998 D D 0.533 5.307 0.561 5.766 1.000 0.719 0.654 0.725 0.734 . 5.210 5.210 6.786 1.312 0.756 1.000 0.997 0.993 127 . . . . MGA 74 0 129 12 0.0851063829787234 TRUE TRUE ENSG00000166147.14 . BCM GRCh38.p13 chr15 48644705 48644705 + C C T Missense_Mutation SNP ENST00000316623.10 exon2 c.G65A p.S22N exonic ENSG00000166147.14 . nonsynonymous SNV ENSG00000166147.14:ENST00000316623.10:exon2:c.G65A:p.S22N 15q21.1 C3N-03430 . . . . . . . . . 7.17 D T . . N N . D D 0.496 T T D 0.157 0.498 0.666 0.515 T T T T D T 3.024 23.500 0.960 D D 0.072 2.777 0.208 3.224 1.000 0.564 0.484 0.504 0.562 . 4.610 4.610 3.892 1.018 0.549 1.000 1.000 0.994 584 . . . . FBN1 473 1 866 75 0.079702444208289 TRUE TRUE ENSG00000074603.19 . BCM GRCh38.p13 chr15 65480265 65480265 + G G A Missense_Mutation SNP ENST00000341861.9 exon10 c.C1301T p.T434M exonic ENSG00000074603.19 . nonsynonymous SNV ENSG00000074603.19:ENST00000341861.9:exon10:c.C1301T:p.T434M 15q22.31 C3N-03430 . . . . . . . . rs758585687 9.20 D T D D D D L T N 0.655 T T T 0.139 0.390 0.082 0.642 T T T T D D 2.783 23.000 0.999 D D 0.565 5.588 0.628 6.595 0.994 0.732 0.744 0.609 0.714 . 5.670 5.670 6.184 1.176 0.676 1.000 0.998 0.994 456 Dipeptidylpeptidase_IV,_N-terminal_domain . . . DPP8 179 0 340 35 0.0933333333333333 TRUE NA ENSG00000156218.13 . BCM GRCh38.p13 chr15 83988797 83988797 + A A G Missense_Mutation SNP ENST00000286744.10 exon22 c.A3823G p.S1275G exonic ENSG00000156218.13 . nonsynonymous SNV ENSG00000156218.13:ENST00000286744.10:exon22:c.A3823G:p.S1275G 15q25.2 C3N-03430 . . . . . . . . . 7.20 D D D P N N M T N 0.317 T T D 0.215 0.372 0.826 0.217 T T T T D T 3.104 23.600 0.996 D N 0.138 3.039 0.063 2.588 0.329 0.554 0.588 0.618 0.564 . 4.830 3.710 2.121 1.312 0.756 0.992 0.992 0.984 621 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . ADAMTSL3 115 0 184 11 0.0564102564102564 TRUE NA ENSG00000140675.13 . BCM GRCh38.p13 chr16 31487625 31487625 + A A T Missense_Mutation SNP ENST00000330498.4 exon7 c.A751T p.I251F exonic ENSG00000140675.13 . nonsynonymous SNV ENSG00000140675.13:ENST00000330498.4:exon7:c.A751T:p.I251F 16p11.2 C3N-03430 . . . . . . . . . 9.20 T T B B D D L D N 0.604 T T D 0.534 0.421 0.912 0.382 T T D D D T 2.634 22.700 0.962 D D -0.208 1.855 -0.071 2.132 1.000 0.455 0.492 0.504 0.568 . 4.140 4.140 4.091 1.302 0.756 1.000 1.000 0.992 308 . . . . SLC5A2 544 0 977 89 0.0834896810506567 TRUE TRUE ENSG00000141052.17 . BCM GRCh38.p13 chr17 12739285 12739285 + T T G Missense_Mutation SNP ENST00000343344.8 exon7 c.T674G p.L225R exonic ENSG00000141052.17 . nonsynonymous SNV ENSG00000141052.17:ENST00000343344.8:exon7:c.T674G:p.L225R 17p12 C3N-03430 1.667e-05 0 0 0.0001 0 1.511e-05 0 0 rs763274360 1.20 D T B B N N L T N 0.492 T T T 0.128 0.175 0.522 0.119 T T T T T T 1.118 12.950 0.749 N N -0.902 0.518 -0.898 0.623 0.000 0.581 0.574 0.565 0.564 . 4.190 1.780 0.448 1.138 0.609 0.002 0.202 0.724 948 . . . ID=COSV58502009;OCCURENCE=1(liver) MYOCD 80 0 127 11 0.0797101449275362 TRUE TRUE ENSG00000108797.12 . BCM GRCh38.p13 chr17 42688921 42688921 + C C T Missense_Mutation SNP ENST00000264638.9 exon10 c.C1502T p.T501M exonic ENSG00000108797.12 . nonsynonymous SNV ENSG00000108797.12:ENST00000264638.9:exon10:c.C1502T:p.T501M 17q21.2 C3N-03430 . . . . . . . . rs148181656 9.20 T D P B D D L T N 0.530 T T D 0.403 . 0.680 0.576 T T D D D D 2.608 22.700 0.982 D N -0.070 2.271 0.044 2.516 0.992 0.706 0.702 0.710 0.563 . 4.730 4.730 4.176 1.026 0.599 0.999 0.998 0.997 268 Laminin_G_domain . . . CNTNAP1 300 0 435 82 0.158607350096712 TRUE NA ENSG00000168502.17 . BCM GRCh38.p13 chr18 8825546 8825546 + - NA GTC In_Frame_Ins INS ENST00000306329.15 exon13 c.4993_4994insGTC p.C1665_L1666insR exonic ENSG00000168502.17 . nonframeshift insertion ENSG00000168502.17:ENST00000306329.15:exon13:c.4993_4994insGTC:p.C1665_L1666insR 18p11.22 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTCL1 NA NA NA NA NA NA NA ENSG00000181626.12 . BCM GRCh38.p13 chr18 12115415 12115415 + C C T Missense_Mutation SNP ENST00000587848.3 exon10 c.C1121T p.T374M exonic ENSG00000181626.12 . nonsynonymous SNV ENSG00000181626.12:ENST00000587848.3:exon10:c.C1121T:p.T374M 18p11.21 C3N-03430 . . . . . . . . rs192217310 0.16 . T B B . N N . . 0.025 T T T 0.028 . 0.030 0.410 T T T T T T -0.796 0.026 0.730 N N -2.238 0.003 -2.290 0.003 0.465 0.497 0.590 0.547 0.530 . 1.820 -3.640 -0.618 -4.951 -2.704 0.000 0.000 0.001 923 . . . ID=COSV58411732;OCCURENCE=1(large_intestine) ANKRD62 63 0 117 11 0.0859375 TRUE TRUE ENSG00000186300.12 . BCM GRCh38.p13 chr19 2852426 2852426 + G G T Nonsense_Mutation SNP ENST00000334241.9 exon4 c.G361T p.G121X exonic ENSG00000186300.12 . stopgain ENSG00000186300.12:ENST00000334241.9:exon4:c.G361T:p.G121X 19p13.3 C3N-03430 . . . . . . . . . 3.5 . . . . . D . . . 0.032 . . . . . . . . . D D . . 4.833 33 0.987 N N 0.193 3.274 -0.197 1.793 0.008 0.372 0.546 0.464 0.492 . 3.620 1.440 0.806 0.905 0.666 0.005 0.043 0.037 994 . . . . ZNF555 320 0 484 77 0.137254901960784 TRUE TRUE ENSG00000125730.17 . BCM GRCh38.p13 chr19 6690652 6690652 + C C T Missense_Mutation SNP ENST00000245907.11 exon27 c.G3466A p.D1156N exonic ENSG00000125730.17 . nonsynonymous SNV ENSG00000125730.17:ENST00000245907.11:exon27:c.G3466A:p.D1156N 19p13.3 C3N-03430 . . . . . . . . . 3.20 T D B B U N M T N 0.278 T T D 0.642 0.442 0.571 0.589 T T T T T T 2.420 22.200 0.996 N N -0.503 1.170 -0.502 1.199 0.468 0.706 0.547 0.710 0.621 . 5.690 4.650 0.598 1.026 0.549 0.001 0.095 0.594 889 Alpha-macroglobulin_complement_component . . . C3 434 0 711 83 0.104534005037783 TRUE TRUE ENSG00000130477.15 . BCM GRCh38.p13 chr19 17641532 17641532 + C C T Missense_Mutation SNP ENST00000519716.6 exon21 c.G2497A p.V833M exonic ENSG00000130477.15 . nonsynonymous SNV ENSG00000130477.15:ENST00000519716.6:exon21:c.G2497A:p.V833M 19p13.11 C3N-03430 . . . . . . . . . 2.20 T T B B U N L D N 0.323 T T T 0.144 0.400 0.606 1.410 T T T T T D 1.781 17.590 0.970 N N -0.981 0.425 -1.089 0.387 0.006 0.672 0.588 0.702 0.613 . 3.000 -2.630 0.024 0.763 0.463 0.000 0.992 0.593 929 . . . ID=COSV53208124;OCCURENCE=1(breast),1(stomach) UNC13A 188 0 331 43 0.114973262032086 TRUE TRUE ENSG00000064607.17 . BCM GRCh38.p13 chr19 19026220 19026220 + A A C Nonsense_Mutation SNP ENST00000452918.7 exon3 c.T128G p.L43X exonic ENSG00000064607.17 . stopgain ENSG00000064607.17:ENST00000452918.7:exon3:c.T128G:p.L43X 19p13.11 C3N-03430 . . . . . . . . . 4.6 . . . . N D . . . 0.085 . . . . . . . . . D D . . 6.824 36 0.985 D N 0.824 9.267 0.645 6.840 0.988 0.719 0.723 0.725 0.714 . 5.330 4.100 3.593 1.207 0.691 0.995 0.985 0.996 900 . . . . SUGP2 66 0 88 7 0.0736842105263158 TRUE TRUE ENSG00000167232.14 . BCM GRCh38.p13 chr19 23362579 23362579 + C C A Missense_Mutation SNP ENST00000300619.12 exon4 c.G400T p.V134L exonic ENSG00000167232.14 . nonsynonymous SNV ENSG00000167232.14:ENST00000300619.12:exon4:c.G400T:p.V134L 19p12 C3N-03430 . . . . . . . . . 0.19 T T B B . N L T N 0.035 T T T 0.006 0.312 0.196 0.317 T T T T T T -0.008 1.285 0.380 N N -1.156 0.259 -1.325 0.193 0.000 0.732 0.744 0.651 0.492 . 0.987 -1.970 -1.605 0.345 0.282 0.000 0.001 0.001 988 . . . . ZNF91 81 0 142 11 0.0718954248366013 NA TRUE ENSG00000090006.18 . BCM GRCh38.p13 chr19 40625983 40625983 + G G C Missense_Mutation SNP ENST00000308370.11 exon30 c.G4160C p.C1387S exonic ENSG00000090006.18 . nonsynonymous SNV ENSG00000090006.18:ENST00000308370.11:exon30:c.G4160C:p.C1387S 19q13.2 C3N-03430 . . . . . . . . . 16.17 . D D D U D . D . 0.920 D D D 0.858 0.970 0.840 1.232 D D D D D D 4.271 29.300 0.996 D D 0.654 6.525 0.626 6.571 1.000 0.706 0.644 0.644 0.613 . 4.470 4.470 9.942 1.176 0.676 1.000 0.901 0.892 749 TB_domain . . . LTBP4 327 0 500 129 0.205087440381558 TRUE TRUE ENSG00000268964.3 . BCM GRCh38.p13 chr19 53050525 53050525 + A A T Missense_Mutation SNP ENST00000601417.3 exon2 c.A1274T p.D425V exonic ENSG00000268964.3 . nonsynonymous SNV ENSG00000268964.3:ENST00000601417.3:exon2:c.A1274T:p.D425V 19q13.41 C3N-03430 . . . . . . . . . 1.11 . D . . . . L T . 0.293 . . T . . 0.306 . T T T T . T 2.007 19.310 0.502 N N . . . . 0.000 0.487 0.574 0.547 0.564 . 0.418 -0.692 0.347 0.490 0.413 0.059 0.004 0.011 994 . . . . ERVV-2 203 0 382 34 0.0817307692307692 NA TRUE ENSG00000152454.4 . BCM GRCh38.p13 chr19 57942600 57942600 + A A G Missense_Mutation SNP ENST00000282308.4 exon3 c.T208C p.S70P exonic ENSG00000152454.4 . nonsynonymous SNV ENSG00000152454.4:ENST00000282308.4:exon3:c.T208C:p.S70P 19q13.43 C3N-03430 . . . . . . . . . 5.19 D D B B . N M T D 0.147 T T T 0.005 0.335 0.124 0.403 T T T T D T 1.288 14.300 0.978 N N -1.034 0.369 -1.108 0.367 0.002 0.719 0.725 0.723 0.636 . 2.830 0.728 0.159 1.093 0.567 0.000 0.041 0.134 982 Krueppel-associated_box . . . ZNF256 184 0 311 29 0.0852941176470588 TRUE TRUE ENSG00000185052.12 . BCM GRCh38.p13 chr20 19585522 19585522 + T T C Missense_Mutation SNP ENST00000328041.11 exon6 c.T590C p.V197A exonic ENSG00000185052.12 . nonsynonymous SNV ENSG00000185052.12:ENST00000328041.11:exon6:c.T590C:p.V197A 20p11.23 C3N-03430 . . . . . . . . . 11.20 D T B B D D L T D 0.754 T T D 0.410 0.614 0.613 1.512 T T D D D D 3.397 24.400 0.999 D D 0.189 3.255 0.337 3.941 0.999 0.615 0.563 0.659 0.564 . 5.630 5.630 8.017 1.138 0.609 1.000 0.941 0.998 953 Sodium/calcium_exchanger_membrane_region . . . SLC24A3 170 2 337 53 0.135897435897436 TRUE TRUE ENSG00000198646.14 . BCM GRCh38.p13 chr20 34741314 34741314 + G G A Nonsense_Mutation SNP ENST00000359003.7 exon11 c.C4942T p.Q1648X exonic ENSG00000198646.14 . stopgain ENSG00000198646.14:ENST00000359003.7:exon11:c.C4942T:p.Q1648X 20q11.22 C3N-03430 . . . . . . . . . 5.6 . . . . D A . . . 0.899 . . . . . . . . . D D . . 7.635 38 0.995 D N 1.080 16.682 0.932 15.183 0.934 0.707 0.702 0.644 0.714 . 5.460 4.490 4.985 1.176 0.618 1.000 1.000 0.997 335 . . . . NCOA6 229 1 344 61 0.150617283950617 TRUE TRUE ENSG00000214107.8 . BCM GRCh38.p13 chrX 30250540 30250540 + G G A Missense_Mutation SNP ENST00000378981.7 exon4 c.G47A p.R16H exonic ENSG00000214107.8 . nonsynonymous SNV ENSG00000214107.8:ENST00000378981.7:exon4:c.G47A:p.R16H Xp21.2 C3N-03430 3.132e-05 0.0001 0.0001 0 0 0 0 0 rs200931248 2.19 T T P B N N L T D 0.112 T T D 0.022 0.288 0.506 0.109 T T T T T T 1.104 12.810 0.988 N . . . . . 0.798 . . . . . 3.990 0.217 0.008 0.230 -0.106 0.008 0.760 0.922 748 Melanoma_associated_antigen,_N-terminal . . ID=COSV66775637;OCCURENCE=1(pancreas) MAGEB1 93 0 145 36 0.198895027624309 TRUE TRUE ENSG00000196440.11 . BCM GRCh38.p13 chrX 101489488 101489488 + A A T Missense_Mutation SNP ENST00000423738.4 exon2 c.A899T p.D300V exonic ENSG00000196440.11 . nonsynonymous SNV ENSG00000196440.11:ENST00000423738.4:exon2:c.A899T:p.D300V Xq22.1 C3N-03430 . . . . . . . . . 1.12 . D . . . N . T . 0.140 T T T 0.050 . 0.323 . T . T T T T 1.228 13.850 0.874 N . . . . . 0.764 . . . . . 4.990 -1.120 -0.271 -0.116 0.756 0.000 0.877 0.831 124 . . . . ARMCX4 280 2 486 42 0.0795454545454545 TRUE TRUE ENSG00000133124.11 . BCM GRCh38.p13 chrX 108733727 108733727 + G G A Missense_Mutation SNP ENST00000372129.3 exon1 c.C2618T p.P873L exonic ENSG00000133124.11 . nonsynonymous SNV ENSG00000133124.11:ENST00000372129.3:exon1:c.C2618T:p.P873L Xq22.3 C3N-03430 . . . . . . . . . 4.19 D D B B N N L T D 0.035 T T T 0.019 0.250 0.043 0.504 T D T T T T 0.223 3.392 0.939 N . . . . . 1.000 . . . . . 5.080 1.270 -0.144 -0.168 -0.133 0.000 0.004 0.430 256 . . . . IRS4 507 0 751 89 0.105952380952381 TRUE TRUE ENSG00000198354.7 . BCM GRCh38.p13 chrX 126165773 126165773 + A A T Missense_Mutation SNP ENST00000360028.4 exon1 c.T152A p.L51Q exonic ENSG00000198354.7 . nonsynonymous SNV ENSG00000198354.7:ENST00000360028.4:exon1:c.T152A:p.L51Q Xq25 C3N-03430 . . . . . . . . . 8.18 D D P B . D M T D 0.559 T T D 0.060 0.276 0.339 . T T T T D T 2.077 19.840 0.984 D . . . . . 0.793 . . . . . 3.110 1.960 2.559 1.214 0.572 1.000 0.303 0.486 937 . . . . DCAF12L2 418 0 610 62 0.0922619047619048 TRUE TRUE ENSG00000008128.23 . BCM GRCh38.p13 chr1 1708793 1708793 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000008128.23 ENST00000378633.5:exon9:c.1012+1G>A . . 1p36.33 C3N-03430 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 4.956 33 0.905 D . 0.536 5.327 0.203 3.198 0.019 0.263 0.305 0.084 0.093 0.669 2.670 2.670 2.992 0.799 0.265 1.000 0.068 0.290 649 . . . . CDK11A 463 0 957 57 0.0562130177514793 NA TRUE ENSG00000164270.18 . BCM GRCh38.p13 chr5 148548870 148548870 + T T A Splice_Site SNP NA NA NA NA splicing ENSG00000164270.18 ENST00000377888.8:exon4:c.153-2A>T . . 5q32 C3N-03430 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.224 33 0.995 D . 1.174 21.606 1.040 21.559 0.999 0.061 0.063 0.063 0.059 0.981 5.900 5.900 8.017 1.138 0.665 1.000 1.000 0.991 778 . . . . HTR4 175 0 298 39 0.115727002967359 TRUE TRUE ENSG00000144057.15 . BCM GRCh38.p13 chr2 106806720 106806720 + C C T Silent SNP ENST00000409382.7 exon6 c.G1548A p.A516A exonic ENSG00000144057.15 . synonymous SNV ENSG00000144057.15:ENST00000409382.7:exon6:c.G1548A:p.A516A 2q12.3 C3N-03430 1.65e-05 0 0 0 0 3.004e-05 0 0 rs764850258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ST6GAL2 224 1 314 52 0.14207650273224 TRUE NA ENSG00000183091.19 . BCM GRCh38.p13 chr2 151696685 151696685 + G G A Silent SNP ENST00000172853.14 exon17 c.C1521T p.D507D exonic ENSG00000183091.19 . synonymous SNV ENSG00000183091.19:ENST00000172853.14:exon17:c.C1521T:p.D507D 2q23.3 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEB 186 0 339 20 0.0557103064066852 TRUE TRUE ENSG00000185774.16 . BCM GRCh38.p13 chr4 20882627 20882627 + C C T Silent SNP ENST00000382152.7 exon2 c.G144A p.T48T exonic ENSG00000185774.16 . synonymous SNV ENSG00000185774.16:ENST00000382152.7:exon2:c.G144A:p.T48T 4p15.31 C3N-03430 . . . . . . . . rs368526954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62854605;OCCURENCE=1(ovary) KCNIP4 322 0 617 57 0.0845697329376855 TRUE TRUE ENSG00000112902.12 . BCM GRCh38.p13 chr5 9054175 9054175 + A A G Silent SNP ENST00000382496.10 exon19 c.T2601C p.S867S exonic ENSG00000112902.12 . synonymous SNV ENSG00000112902.12:ENST00000382496.10:exon19:c.T2601C:p.S867S 5p15.31 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEMA5A 246 0 461 34 0.0686868686868687 TRUE TRUE ENSG00000204371.11 . BCM GRCh38.p13 chr6 31887031 31887031 + C C T Silent SNP ENST00000375537.8 exon16 c.G2082A p.Q694Q exonic ENSG00000204371.11 . synonymous SNV ENSG00000204371.11:ENST00000375537.8:exon16:c.G2082A:p.Q694Q 6p21.33 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64997676;OCCURENCE=1(oesophagus) EHMT2 370 0 601 60 0.0907715582450832 TRUE TRUE ENSG00000257923.11 . BCM GRCh38.p13 chr7 102248514 102248514 + G G A Silent SNP ENST00000292535.12 exon24 c.G3990A p.A1330A exonic ENSG00000257923.11 . synonymous SNV ENSG00000257923.11:ENST00000292535.12:exon24:c.G3990A:p.A1330A 7q22.1 C3N-03430 7.981e-05 0 0 0 0 8.873e-05 0 0.0001 rs782420178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUX1 325 1 574 56 0.0888888888888889 TRUE NA ENSG00000165156.15 . BCM GRCh38.p13 chr8 123254921 123254921 + A A G Silent SNP ENST00000395571.8 exon3 c.T1026C p.S342S exonic ENSG00000165156.15 . synonymous SNV ENSG00000165156.15:ENST00000395571.8:exon3:c.T1026C:p.S342S 8q24.13 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZHX1 199 0 383 86 0.183368869936034 TRUE TRUE ENSG00000197651.4 . BCM GRCh38.p13 chr12 90954185 90954185 + C C T Silent SNP ENST00000358859.3 exon1 c.G558A p.P186P exonic ENSG00000197651.4 . synonymous SNV ENSG00000197651.4:ENST00000358859.3:exon1:c.G558A:p.P186P 12q21.33 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCER1 239 0 398 45 0.101580135440181 TRUE NA ENSG00000166091.21 . BCM GRCh38.p13 chr14 23379301 23379301 + T T G Silent SNP ENST00000339180.9 exon5 c.T576G p.V192V exonic ENSG00000166091.21 . synonymous SNV ENSG00000166091.21:ENST00000339180.9:exon5:c.T576G:p.V192V 14q11.2 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CMTM5 143 0 255 22 0.0794223826714801 TRUE TRUE ENSG00000119596.18 . BCM GRCh38.p13 chr14 74799509 74799509 + A A G Silent SNP ENST00000325680.12 exon5 c.A4212G p.R1404R exonic ENSG00000119596.18 . synonymous SNV ENSG00000119596.18:ENST00000325680.12:exon5:c.A4212G:p.R1404R 14q24.3 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . YLPM1 178 0 284 68 0.193181818181818 TRUE TRUE ENSG00000165953.9 . BCM GRCh38.p13 chr14 94496522 94496522 + G G A Silent SNP ENST00000341228.2 exon4 c.C756T p.D252D exonic ENSG00000165953.9 . synonymous SNV ENSG00000165953.9:ENST00000341228.2:exon4:c.C756T:p.D252D 14q32.13 C3N-03430 4.946e-05 9.61e-05 8.637e-05 0 0 2.999e-05 0 0.0001 rs761146045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SERPINA12 187 0 327 61 0.157216494845361 TRUE NA ENSG00000185634.12 . BCM GRCh38.p13 chr15 48834937 48834937 + G G A Silent SNP ENST00000332408.9 exon11 c.C1569T p.S523S exonic ENSG00000185634.12 . synonymous SNV ENSG00000185634.12:ENST00000332408.9:exon11:c.C1569T:p.S523S 15q21.1 C3N-03430 0.1045 0.0389 0.0788 0.0684 0.1767 0.1144 0.1083 0.1133 rs1426199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60112821;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) SHC4 277 0 458 47 0.0930693069306931 TRUE TRUE ENSG00000266074.8 . BCM GRCh38.p13 chr17 81461788 81461788 + C C T Silent SNP ENST00000584436.7 exon27 c.C7218T p.A2406A exonic ENSG00000266074.8 . synonymous SNV ENSG00000266074.8:ENST00000584436.7:exon27:c.C7218T:p.A2406A 17q25.3 C3N-03430 . . . . . . . . rs782067875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAHCC1 119 0 165 56 0.253393665158371 TRUE NA ENSG00000180479.14 . BCM GRCh38.p13 chr19 37566065 37566065 + A A G Silent SNP ENST00000451802.7 exon4 c.T363C p.S121S exonic ENSG00000180479.14 . synonymous SNV ENSG00000180479.14:ENST00000451802.7:exon4:c.T363C:p.S121S 19q13.12 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF571 180 0 387 23 0.0560975609756098 TRUE TRUE ENSG00000142512.15 . BCM GRCh38.p13 chr19 51414493 51414493 + C C T Silent SNP ENST00000339313.10 exon9 c.G1638A p.T546T exonic ENSG00000142512.15 . synonymous SNV ENSG00000142512.15:ENST00000339313.10:exon9:c.G1638A:p.T546T 19q13.41 C3N-03430 1.716e-05 0 0 0 0 3.096e-05 0 0 rs201661934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59482899;OCCURENCE=1(endometrium) SIGLEC10 249 1 482 72 0.129963898916967 TRUE TRUE ENSG00000100285.10 . BCM GRCh38.p13 chr22 29481060 29481060 + C C T Silent SNP ENST00000310624.7 exon1 c.C798T p.D266D exonic ENSG00000100285.10 . synonymous SNV ENSG00000100285.10:ENST00000310624.7:exon1:c.C798T:p.D266D 22q12.2 C3N-03430 9.406e-05 0 0 0 . 0 0 0.0001 rs571252099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEFH 368 0 534 130 0.19578313253012 TRUE NA ENSG00000185985.10 . BCM GRCh38.p13 chrX 145824468 145824468 + C C T Silent SNP ENST00000335565.5 exon5 c.C2043T p.D681D exonic ENSG00000185985.10 . synonymous SNV ENSG00000185985.10:ENST00000335565.5:exon5:c.C2043T:p.D681D Xq27.3 C3N-03430 6.851e-05 0.0002 0 0 0 6.265e-05 0 9.898e-05 rs182696674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLITRK2 325 0 515 37 0.0670289855072464 TRUE NA ENSG00000237978.6 . BCM GRCh38.p13 chr3 178843218 178843218 + T T G RNA SNP NA NA NA NA ncRNA_intronic ENSG00000237978.6 . . . 3q26.32 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNMB2-AS1 105 0 216 15 0.0649350649350649 TRUE NA ENSG00000155011.9 . BCM GRCh38.p13 chr4 107188431 107188431 + C C A IGR SNP NA NA NA NA intergenic ENSG00000155011.9;ENSG00000213522.4 dist=152118;dist=14918 . . 4q25 C3N-03430 . . . . . . . . rs558251635 1.13 D . . . . N . T N 0.307 T T T 0.044 0.363 0.093 . . . T T T T 0.708 8.526 0.600 N N -0.477 1.223 -0.612 1.028 0.000 0.487 0.574 0.574 0.613 . 4.640 2.480 0.905 0.126 0.599 0.001 0.039 0.011 557 . . . . DKK2 101 0 158 10 0.0595238095238095 TRUE NA ENSG00000138650.9 . BCM GRCh38.p13 chr4 133163886 133163886 + - NA A Intron SNP NA NA NA NA intronic ENSG00000138650.9 . . . 4q28.3 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDH10 NA NA NA NA NA NA NA ENSG00000016402.13 . BCM GRCh38.p13 chr6 137009286 137009286 + G G C Intron SNP NA NA NA NA intronic ENSG00000016402.13 . . . 6q23.3 C3N-03430 . . . . . . . . . 1.14 T D . . . N . T N 0.181 T T T 0.060 0.444 0.371 . . . T T T T -0.464 0.142 0.728 N N -1.003 0.401 -1.202 0.281 0.001 0.497 0.590 0.547 0.542 . 4.300 -4.350 -0.257 0.145 -0.250 0.000 0.001 0.000 811 . . . . IL20RA 79 0 124 35 0.220125786163522 TRUE TRUE ENSG00000136267.13 . BCM GRCh38.p13 chr7 14209543 14209543 + T T C Intron SNP NA NA NA NA intronic ENSG00000136267.13 . . . 7p21.2 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DGKB 200 1 415 43 0.0938864628820961 TRUE NA ENSG00000276759.2 . BCM GRCh38.p13 chr9 26110093 26110093 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000276759.2 . . . 9p21.2 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL353753.1 104 0 180 26 0.12621359223301 TRUE NA ENSG00000160584.16 . BCM GRCh38.p13 chr11 116950182 116950182 + T T C Intron SNP NA NA NA NA intronic ENSG00000160584.16 . . . 11q23.3 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIK3 123 0 205 15 0.0681818181818182 TRUE NA ENSG00000258723.1 . BCM GRCh38.p13 chr14 78297859 78297859 + A A C IGR SNP NA NA NA NA intergenic ENSG00000258723.1;ENSG00000258719.1 dist=14483;dist=397462 . . 14q24.3 C3N-03430 . . . . . . . . . 3.7 . D . . . . . . . 0.630 T T . 0.111 . . . . T . . . D 3.348 24.300 0.993 D N 0.994 13.745 0.841 11.464 0.997 0.487 0.574 0.492 0.564 . 6.020 4.870 5.512 1.298 0.740 1.000 1.000 0.998 743 . . . . AF099810.1 187 1 350 34 0.0885416666666667 TRUE TRUE ENSG00000140807.7 . BCM GRCh38.p13 chr16 50616090 50616090 + A A C Intron SNP NA NA NA NA intronic ENSG00000140807.7 . . . 16q12.1 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NKD1 71 0 151 15 0.0903614457831325 TRUE NA ENSG00000167046.4 . BCM GRCh38.p13 chr20 62642120 62642120 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000167046.4 . . . 20q13.33 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL357033.1 139 0 261 53 0.168789808917197 TRUE NA ENSG00000204118.2 . BCM GRCh38.p13 chrX 73127562 73127562 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000204118.2 . . . Xq13.2 C3N-03430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAP1L6P 100 0 127 40 0.239520958083832 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178604043 178604043 + C C T Missense_Mutation SNP ENST00000591111.5 exon232 c.G49721A p.R16574H exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon232:c.G49721A:p.R16574H 2q31.2 C3L-02809 8.285e-06 0 0 0 0 1.499e-05 0 0 rs183010574 9.17 D . D D . D M T D 0.432 T T T 0.306 0.501 0.343 0.504 T . T T T D 3.353 24.300 0.936 D D 0.745 7.799 0.766 9.183 1.000 0.554 0.546 0.602 0.621 . 6.160 6.160 3.914 1.026 0.599 1.000 1.000 0.999 416 Fibronectin_type_III . . . TTN 123 0 178 23 0.114427860696517 TRUE NA ENSG00000115556.14 . BCM GRCh38.p13 chr2 218618606 218618606 + G G A Missense_Mutation SNP ENST00000450993.7 exon4 c.G209A p.R70H exonic ENSG00000115556.14 . nonsynonymous SNV ENSG00000115556.14:ENST00000450993.7:exon4:c.G209A:p.R70H 2q35 C3L-02809 2.495e-05 0 0 0 0 1.504e-05 0 0.0001 rs547899357 17.20 D D D D D D M T D 0.748 D D D 0.506 0.635 0.871 0.928 T D T D D D 3.844 26.000 0.964 D D 0.829 9.379 0.717 8.080 1.000 0.659 0.611 0.725 0.568 . 5.040 5.040 7.604 1.176 0.676 1.000 0.955 0.976 925 Pleckstrin_homology_domain . . . PLCD4 326 0 319 93 0.225728155339806 TRUE NA ENSG00000144589.22 . BCM GRCh38.p13 chr2 219614171 219614183 + GTCTCTGCCCCCT GTCTCTGCCCCCT - Frame_Shift_Del DEL ENST00000456909.6 exon22 c.2727_2739del p.S910Pfs*54 exonic ENSG00000144589.22 . frameshift deletion ENSG00000144589.22:ENST00000456909.6:exon22:c.2727_2739del:p.S910Pfs*54 2q35 C3L-02809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STK11IP 402 0 431 91 0.174329501915709 TRUE TRUE ENSG00000144619.15 . BCM GRCh38.p13 chr3 3037296 3037296 + G G A Missense_Mutation SNP ENST00000418658.6 exon18 c.G2060A p.R687H exonic ENSG00000144619.15 . nonsynonymous SNV ENSG00000144619.15:ENST00000418658.6:exon18:c.G2060A:p.R687H 3p26.2 C3L-02809 2.472e-05 0 0 0 0 4.497e-05 0 0 rs760085098 4.20 T T P B D N L T N 0.361 T T T 0.052 0.388 0.701 0.327 T T T T D D 2.485 22.400 0.998 D N -0.101 2.173 -0.103 2.039 0.000 0.554 0.588 0.608 0.564 . 5.480 0.315 1.805 1.176 0.676 0.961 0.983 0.688 953 Fibronectin_type_III . . ID=COSV61868851;OCCURENCE=2(large_intestine),1(stomach),1(upper_aerodigestive_tract) CNTN4 604 0 477 78 0.140540540540541 TRUE TRUE ENSG00000144712.12 . BCM GRCh38.p13 chr3 12817166 12817166 + G G A Missense_Mutation SNP ENST00000456430.6 exon10 c.G2234A p.R745H exonic ENSG00000144712.12 . nonsynonymous SNV ENSG00000144712.12:ENST00000456430.6:exon10:c.G2234A:p.R745H 3p25.2 C3L-02809 8.468e-06 0 0 0.0001 0 0 0 0 rs755177838 2.20 T T B B N N N T N 0.083 T T D 0.018 0.389 0.375 0.219 T T T T T D 0.298 4.265 0.963 N N -0.953 0.456 -0.953 0.550 0.998 0.566 0.610 0.679 0.492 . 4.730 0.145 0.428 -0.516 -0.124 0.000 0.283 0.556 840 . . . ID=COSV99929621;OCCURENCE=1(stomach) CAND2 263 0 221 55 0.199275362318841 TRUE NA ENSG00000169855.20 . BCM GRCh38.p13 chr3 78633955 78633955 + T T A Missense_Mutation SNP ENST00000464233.6 exon24 c.A3461T p.D1154V exonic ENSG00000169855.20 . nonsynonymous SNV ENSG00000169855.20:ENST00000464233.6:exon24:c.A3461T:p.D1154V 3p12.3 C3L-02809 . . . . . . . . . 14.20 D D P B D D M D D 0.929 T T D 0.674 0.260 0.891 0.759 T T D D D D 3.622 25.100 0.995 D D 0.435 4.570 0.495 5.110 1.000 0.661 0.623 0.644 0.668 . 5.820 5.820 7.652 1.138 0.665 1.000 1.000 0.921 732 . . . . ROBO1 217 0 213 25 0.105042016806723 TRUE TRUE ENSG00000174948.6 . BCM GRCh38.p13 chr3 154338150 154338150 + - NA T Frame_Shift_Ins NA ENST00000389740.3 exon4 c.1744dupA p.I582Nfs*6 exonic ENSG00000174948.6 . frameshift insertion ENSG00000174948.6:ENST00000389740.3:exon4:c.1744dupA:p.I582Nfs*6 3q25.2 C3L-02809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPR149 NA NA NA NA NA NA NA ENSG00000170561.13 . BCM GRCh38.p13 chr5 2748564 2748564 + G G T Missense_Mutation SNP ENST00000302057.6 exon3 c.C1144A p.L382I exonic ENSG00000170561.13 . nonsynonymous SNV ENSG00000170561.13:ENST00000302057.6:exon3:c.C1144A:p.L382I 5p15.33 C3L-02809 . . . . . . . . . 4.20 T T B B N D N T N 0.134 T T D 0.052 0.352 0.345 0.466 D T T T T D 1.861 18.190 0.823 N N -0.670 0.865 -0.534 1.147 1.000 0.722 0.574 0.699 0.639 . 4.670 2.510 2.637 1.064 0.560 1.000 0.998 0.811 933 . . . . IRX2 492 0 513 48 0.0855614973262032 TRUE TRUE ENSG00000164176.13 . BCM GRCh38.p13 chr5 84064838 84064838 + G G A Missense_Mutation SNP ENST00000296591.10 exon8 c.C814T p.R272C exonic ENSG00000164176.13 . nonsynonymous SNV ENSG00000164176.13:ENST00000296591.10:exon8:c.C814T:p.R272C 5q14.3 C3L-02809 8.323e-06 0 0 0 0 1.507e-05 0 0 rs752603385 14.20 T T P P D D M D N 0.718 D D D 0.671 0.490 0.977 0.894 T D D D D D 3.554 24.900 0.998 D D 0.415 4.439 0.428 4.564 0.309 0.693 0.588 0.659 0.564 . 5.510 5.510 5.949 1.176 0.618 1.000 0.961 0.483 967 Coagulation_factor_5/8_C-terminal_domain . . ID=COSV56901771;OCCURENCE=7(skin) EDIL3 55 0 90 12 0.117647058823529 TRUE TRUE ENSG00000131437.15 . BCM GRCh38.p13 chr5 132726166 132726166 + G G A Missense_Mutation SNP ENST00000378746.8 exon4 c.C472T p.R158C exonic ENSG00000131437.15 . nonsynonymous SNV ENSG00000131437.15:ENST00000378746.8:exon4:c.C472T:p.R158C 5q31.1 C3L-02809 0.0008 0 0.0080 0 0 0 0 0.0001 rs532600022 17.20 D D D D D D M T D 0.702 D D D 0.692 . 0.802 2.020 D D T D T D 4.569 32 0.999 D D 0.910 11.300 0.848 11.701 1.000 0.732 0.634 0.653 0.728 . 5.690 5.690 5.027 1.176 0.618 1.000 1.000 0.999 891 Kinesin_motor_domain . . ID=COSV66415369;OCCURENCE=1(NS),1(stomach) KIF3A 113 0 159 49 0.235576923076923 TRUE TRUE ENSG00000186472.20 . BCM GRCh38.p13 chr7 83156212 83156212 + A A T Missense_Mutation SNP ENST00000333891.14 exon2 c.T429A p.D143E exonic ENSG00000186472.20 . nonsynonymous SNV ENSG00000186472.20:ENST00000333891.14:exon2:c.T429A:p.D143E 7q21.11 C3L-02809 . . . . . . . . . 1.19 T T P B . N L T N 0.366 T T T 0.063 0.112 0.363 0.035 T T T T T T 1.327 14.580 0.990 D N 0.067 2.757 0.118 2.809 0.000 0.615 0.574 0.659 0.613 . 5.630 3.280 1.403 1.312 0.756 1.000 1.000 0.997 845 . . . . PCLO 225 0 219 12 0.051948051948052 TRUE TRUE ENSG00000146909.8 . BCM GRCh38.p13 chr7 156950237 156950237 + C C T Missense_Mutation SNP ENST00000275820.4 exon1 c.C500T p.T167I exonic ENSG00000146909.8 . nonsynonymous SNV ENSG00000146909.8:ENST00000275820.4:exon1:c.C500T:p.T167I 7q36.3 C3L-02809 . . . . . . . . . 0.20 T T B B N N L T N 0.124 T T T 0.019 0.261 0.294 0.983 T T T T T T 1.394 15.040 0.964 N N -0.664 0.874 -0.640 0.987 1.000 0.243 0.484 0.391 0.373 . 4.080 3.160 0.241 0.997 0.599 0.000 0.744 0.216 810 . . . . NOM1 225 0 243 41 0.144366197183099 TRUE TRUE ENSG00000147485.13 . BCM GRCh38.p13 chr8 51409054 51409054 + G G A Missense_Mutation SNP ENST00000356297.5 exon17 c.C2570T p.A857V exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon17:c.C2570T:p.A857V 8q11.22 C3L-02809 . . . . . . . . . 2.20 T T P B N N N T D 0.272 T T D 0.238 0.554 0.177 0.195 T T T T T T 1.274 14.200 0.564 N N -0.995 0.409 -1.026 0.457 0.002 0.554 0.588 0.576 0.564 . 3.490 0.493 6.243 -0.892 -0.987 0.985 0.000 0.000 895 Peroxidasin,_peroxidase_domain . . ID=COSV62478535;OCCURENCE=1(oesophagus),1(central_nervous_system),1(ovary),1(stomach),1(pancreas) PXDNL 318 0 231 35 0.131578947368421 TRUE TRUE ENSG00000176566.5 . BCM GRCh38.p13 chr8 87873436 87873436 + C C T Missense_Mutation SNP ENST00000319675.5 exon1 c.G536A p.S179N exonic ENSG00000176566.5 . nonsynonymous SNV ENSG00000176566.5:ENST00000319675.5:exon1:c.G536A:p.S179N 8q21.3 C3L-02809 . . . . . . . . . 5.20 D D P B D N L T N 0.171 T T T 0.205 0.709 0.700 0.248 T T T T D D 1.292 14.330 0.668 N N -0.966 0.441 -1.147 0.330 0.539 0.487 0.574 0.547 0.564 . 1.220 -2.440 0.724 -0.980 -1.184 1.000 0.088 0.095 856 . . . ID=COSV60476327;OCCURENCE=1(skin) DCAF4L2 668 0 679 67 0.0898123324396783 TRUE TRUE ENSG00000197919.6 . BCM GRCh38.p13 chr9 21440842 21440842 + T T G Missense_Mutation SNP ENST00000276927.3 exon1 c.T335G p.L112R exonic ENSG00000197919.6 . nonsynonymous SNV ENSG00000197919.6:ENST00000276927.3:exon1:c.T335G:p.L112R 9p21.3 C3L-02809 . . . . . . . . . 12.20 D D D D D N H T D 0.836 T T T 0.303 0.790 0.778 3.211 T T D D D D 3.064 23.500 0.995 D N 0.318 3.871 0.041 2.506 0.315 0.516 0.610 0.574 0.542 . 3.120 3.120 4.620 1.100 0.588 0.662 0.005 0.011 883 . . . . IFNA1 67 0 46 16 0.258064516129032 NA TRUE ENSG00000148120.16 . BCM GRCh38.p13 chr9 94955245 94955245 + C C T Missense_Mutation SNP ENST00000375315.6 exon7 c.C1730T p.P577L exonic ENSG00000148120.16 . nonsynonymous SNV ENSG00000148120.16:ENST00000375315.6:exon7:c.C1730T:p.P577L 9q22.32 C3L-02809 1.653e-05 0.0002 0 0 0 0 0 0 rs143555020 7.15 D D . . N D . T D 0.407 T T D 0.151 . 0.414 0.694 . . T T D T 2.327 21.700 0.985 D N 0.153 3.103 0.048 2.530 1.000 0.615 0.546 0.659 0.568 . 5.000 4.110 2.015 0.129 -0.171 0.761 0.768 0.235 584 Peptidase_M1,_membrane_alanine_aminopeptidase,_N-terminal . . . AOPEP 164 0 118 38 0.243589743589744 TRUE NA ENSG00000165695.10 . BCM GRCh38.p13 chr9 132854918 132854918 + G G A Missense_Mutation SNP ENST00000298545.4 exon5 c.C341T p.P114L exonic ENSG00000165695.10 . nonsynonymous SNV ENSG00000165695.10:ENST00000298545.4:exon5:c.C341T:p.P114L 9q34.13 C3L-02809 . . . . . . . . . 10.20 D D P P D N H T D 0.593 T D D 0.354 0.427 0.668 0.488 T D T T D T 3.088 23.600 0.995 D N 0.257 3.564 0.053 2.551 1.000 0.516 0.610 0.547 0.564 . 3.490 3.490 3.924 1.176 0.618 1.000 0.075 0.103 792 . . . . AK8 202 0 180 27 0.130434782608696 TRUE TRUE ENSG00000048740.18 . BCM GRCh38.p13 chr10 11217487 11217487 + A A G Missense_Mutation SNP ENST00000416382.6 exon3 c.A313G p.N105D exonic ENSG00000048740.18 . nonsynonymous SNV ENSG00000048740.18:ENST00000416382.6:exon3:c.A313G:p.N105D 10p14 C3L-02809 . . . . . . . . . 11.20 T D D D D D N T N 0.740 T T D 0.322 0.612 0.599 . D T T T D D 3.353 24.300 0.996 D D 0.627 6.215 0.683 7.441 1.000 0.706 0.725 0.710 0.613 . 5.540 5.540 8.947 1.312 0.756 1.000 1.000 1.000 909 RNA_recognition_motif_domain;CELF1/2,_RNA_recognition_motif_1 . . . CELF2 168 0 188 57 0.23265306122449 TRUE TRUE ENSG00000069431.11 . BCM GRCh38.p13 chr12 21910225 21910225 + C C T Missense_Mutation SNP ENST00000261201.8 exon8 c.G1252A p.A418T exonic ENSG00000069431.11 . nonsynonymous SNV ENSG00000069431.11:ENST00000261201.8:exon8:c.G1252A:p.A418T 12p12.1 C3L-02809 1.651e-05 0 0 0.0001 0 1.501e-05 0 0 rs781206225 15.20 D D P P D D L D N 0.503 D D D 0.555 0.641 0.924 0.807 D D D T D D 3.066 23.600 0.999 D D 0.503 5.057 0.594 6.155 1.000 0.487 0.574 0.547 0.564 . 5.800 5.800 6.158 0.992 0.580 1.000 0.991 0.990 622 ABC_transporter_type_1,_transmembrane_domain . . ID=COSV53987558;OCCURENCE=1(large_intestine) ABCC9 260 0 315 73 0.188144329896907 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02809 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 326 0 362 158 0.303846153846154 TRUE TRUE ENSG00000167548.15 . BCM GRCh38.p13 chr12 49053566 49053566 + T T C Missense_Mutation SNP ENST00000301067.11 exon6 c.A749G p.H250R exonic ENSG00000167548.15 . nonsynonymous SNV ENSG00000167548.15:ENST00000301067.11:exon6:c.A749G:p.H250R 12q13.12 C3L-02809 . . . . . . . . . 17.19 D . D D N D M D D 0.865 D D D 0.684 0.763 0.822 0.227 D T D D D D 3.821 25.900 0.932 D D 0.814 9.051 0.753 8.862 1.000 0.672 0.702 0.702 0.711 . 5.050 5.050 7.969 1.138 0.665 1.000 1.000 0.997 357 Zinc_finger,_PHD-type;Zinc_finger,_RING-type;Zinc_finger,_PHD-finger . . . KMT2D 274 0 310 130 0.295454545454545 TRUE TRUE ENSG00000133641.18 . BCM GRCh38.p13 chr12 88048270 88048270 + C C G Missense_Mutation SNP ENST00000356891.4 exon7 c.C826G p.P276A exonic ENSG00000133641.18 . nonsynonymous SNV ENSG00000133641.18:ENST00000356891.4:exon7:c.C826G:p.P276A 12q21.32 C3L-02809 . . . . . . . . . 1.19 T T B B N N N T N 0.152 T T T 0.050 0.461 0.107 0.196 . T T T T T 1.193 13.580 0.785 D N -0.494 1.189 -0.323 1.517 0.003 0.706 0.725 0.710 0.714 . 5.730 1.810 1.336 0.126 0.599 1.000 1.000 1.000 876 . . . . C12orf29 45 1 69 35 0.336538461538462 TRUE NA ENSG00000158023.10 . BCM GRCh38.p13 chr12 121960672 121960672 + C C T Missense_Mutation SNP ENST00000288912.9 exon14 c.C2221T p.R741C exonic ENSG00000158023.10 . nonsynonymous SNV ENSG00000158023.10:ENST00000288912.9:exon14:c.C2221T:p.R741C 12q24.31 C3L-02809 . . . . . . . . . 6.19 T D D P N N . T N 0.334 T T D 0.191 0.500 0.775 0.432 T T T T D D 3.519 24.800 0.999 D N 0.398 4.330 0.424 4.533 0.964 0.615 0.627 0.659 0.568 . 4.820 3.870 3.717 1.002 0.599 1.000 0.953 0.982 783 . . . . WDR66 334 0 383 87 0.185106382978723 TRUE NA ENSG00000158113.13 . BCM GRCh38.p13 chr12 122203320 122203320 + C C T Missense_Mutation SNP ENST00000339777.5 exon12 c.C1849T p.P617S exonic ENSG00000158113.13 . nonsynonymous SNV ENSG00000158113.13:ENST00000339777.5:exon12:c.C1849T:p.P617S 12q24.31 C3L-02809 . . . . . . . . . 0.20 T T B B N N N T N 0.080 T T T 0.035 0.235 0.014 0.245 T T T T T T -0.517 0.109 0.849 N N -1.890 0.015 -1.975 0.015 1.000 0.455 0.609 0.607 0.604 . 4.590 -9.190 -1.446 -1.179 -0.978 0.000 0.002 0.000 759 . . . ID=COSV99928274;OCCURENCE=1(pancreas) LRRC43 98 0 208 25 0.107296137339056 TRUE TRUE ENSG00000198542.14 . BCM GRCh38.p13 chr13 101583239 101583239 + A A G Missense_Mutation SNP ENST00000376180.8 exon6 c.A751G p.T251A exonic ENSG00000198542.14 . nonsynonymous SNV ENSG00000198542.14:ENST00000376180.8:exon6:c.A751G:p.T251A 13q33.1 C3L-02809 . . . . . . . . . 6.20 T T B B D D N D N 0.360 T D D 0.240 0.356 0.488 0.199 T T T T T T 1.748 17.360 0.724 D N -0.572 1.039 -0.386 1.397 1.000 0.706 0.574 0.547 0.613 . 5.250 2.570 5.142 0.167 -0.350 1.000 0.998 0.913 945 EGF-like_domain . . . ITGBL1 269 0 365 40 0.0987654320987654 TRUE TRUE ENSG00000139915.21 . BCM GRCh38.p13 chr14 47144128 47144128 + G G C Missense_Mutation SNP ENST00000399232.8 exon4 c.C742G p.L248V exonic ENSG00000139915.21 . nonsynonymous SNV ENSG00000139915.21:ENST00000399232.8:exon4:c.C742G:p.L248V 14q21.3 C3L-02809 . . . . . . . . . 4.19 T . B B U D N T N . T T T 0.056 0.437 0.043 . T T T T T D 2.082 19.880 0.992 D D -0.155 2.005 0.041 2.506 0.001 0.487 0.574 0.574 0.564 . 5.730 4.840 4.553 1.155 0.618 1.000 0.998 0.986 832 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . MDGA2 124 0 105 39 0.270833333333333 TRUE TRUE ENSG00000165617.14 . BCM GRCh38.p13 chr14 58638327 58638327 + A A C Missense_Mutation SNP ENST00000335867.4 exon1 c.A125C p.Q42P exonic ENSG00000165617.14 . nonsynonymous SNV ENSG00000165617.14:ENST00000335867.4:exon1:c.A125C:p.Q42P 14q23.1 C3L-02809 . . . . . . . . . 6.20 T T D D N D L T N 0.280 T T D 0.224 0.133 0.812 4.141 D T T T D T 3.416 24.500 0.975 N N 0.308 3.822 0.228 3.325 1.000 0.437 0.607 0.504 0.604 . 3.280 3.280 0.678 1.190 0.552 0.981 1.000 0.993 641 . . . . DACT1 100 0 109 15 0.120967741935484 TRUE TRUE ENSG00000137877.10 . BCM GRCh38.p13 chr15 41858972 41858972 + G G A Missense_Mutation SNP ENST00000320955.8 exon48 c.C7997T p.A2666V exonic ENSG00000137877.10 . nonsynonymous SNV ENSG00000137877.10:ENST00000320955.8:exon48:c.C7997T:p.A2666V 15q15.1 C3L-02809 0.0002 0 0 0 0.0005 0.0003 0 0.0002 rs377208445 1.20 T T B B N N M T N 0.203 T T T 0.052 . 0.592 . T T T T T T 0.964 11.170 0.933 N N -0.708 0.799 -0.785 0.779 1.000 0.563 0.547 0.506 0.636 . 4.620 2.420 0.416 -0.643 -0.822 0.031 0.002 0.001 198 . . . . SPTBN5 141 0 163 47 0.223809523809524 TRUE NA ENSG00000235711.4 . BCM GRCh38.p13 chr15 79294167 79294167 + C C A Missense_Mutation SNP ENST00000421388.3 exon1 c.C883A p.P295T exonic ENSG00000235711.4 . nonsynonymous SNV ENSG00000235711.4:ENST00000421388.3:exon1:c.C883A:p.P295T 15q25.1 C3L-02809 . . . . . . . . . 0.19 T T B B . N L T N 0.031 T T T 0.067 0.212 0.048 . T T T T T T 0.927 10.730 0.791 N N -0.639 0.918 -0.524 1.163 0.016 0.447 0.563 0.316 0.613 . 4.720 3.800 0.219 1.000 0.599 0.000 0.987 0.530 900 . . . . ANKRD34C 266 0 277 47 0.145061728395062 TRUE TRUE ENSG00000073417.15 . BCM GRCh38.p13 chr15 85109058 85109058 + C C T Nonsense_Mutation SNP ENST00000394553.6 exon12 c.C1042T p.Q348X exonic ENSG00000073417.15 . stopgain ENSG00000073417.15:ENST00000394553.6:exon12:c.C1042T:p.Q348X 15q25.3 C3L-02809 . . . . . . . . . 4.6 . . . . N A . . . 0.884 . . . . . . . . . D D . . 7.983 40 0.998 D N 0.889 10.758 0.699 7.738 1.000 0.732 0.744 0.710 0.714 . 4.010 4.010 6.806 1.010 0.580 1.000 0.994 0.982 595 . . . . PDE8A 121 0 158 35 0.181347150259067 TRUE TRUE ENSG00000140548.10 . BCM GRCh38.p13 chr15 90073162 90073162 + G G A Missense_Mutation SNP ENST00000268154.9 exon3 c.G1550A p.R517Q exonic ENSG00000140548.10 . nonsynonymous SNV ENSG00000140548.10:ENST00000268154.9:exon3:c.G1550A:p.R517Q 15q26.1 C3L-02809 . . . . . . . . . 15.20 D D D D N D M T D 0.796 T T D 0.401 0.601 0.848 1.682 D T D D D D 4.476 32 1.000 D D 0.864 10.163 0.837 11.298 1.000 0.707 0.702 0.571 0.714 . 5.020 5.020 10.003 1.176 0.676 1.000 1.000 0.998 774 Zinc_finger_C2H2-type . . . ZNF710 345 0 389 122 0.238747553816047 TRUE TRUE ENSG00000225614.4 . BCM GRCh38.p13 chr16 88427796 88427796 + C C T Missense_Mutation SNP ENST00000565624.3 exon3 c.C326T p.A109V exonic ENSG00000225614.4 . nonsynonymous SNV ENSG00000225614.4:ENST00000565624.3:exon3:c.C326T:p.A109V 16q24.2 C3L-02809 . . . . . . . . . 2.16 D T . . . N . T N 0.046 T T D 0.064 . 0.421 . T T T T T T -0.144 0.673 0.651 N N -1.255 0.191 -1.241 0.251 0.038 0.554 0.547 0.576 0.568 . 3.760 1.760 1.159 -1.049 -1.423 0.000 0.000 0.001 . . . . ID=COSV71258289;OCCURENCE=1(oesophagus),2(large_intestine),1(pancreas) ZNF469 265 0 330 70 0.175 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674230 7674230 + C C T Missense_Mutation SNP ENST00000269305.8 exon7 c.G733A p.G245S exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.G733A:p.G245S 17p13.1 C3L-02809 8.239e-06 0 0 0 0 1.498e-05 0 0 rs28934575 19.20 D D D D D D M D D 0.921 D D D 0.947 . 0.994 0.387 T D D D D D 4.069 27.500 0.999 D D 0.816 9.103 0.750 8.806 1.000 0.722 0.702 0.725 0.735 . 4.620 4.620 7.905 1.021 0.596 1.000 0.893 0.975 433 p53,_DNA-binding_domain . . ID=COSV52661877;OCCURENCE=4(salivary_gland),48(breast),1(penis),4(liver),34(oesophagus),1(adrenal_gland),2(cervix),215(large_intestine),43(central_nervous_system),3(biliary_tract),27(ovary),6(vulva),1(bone),3(NS),55(stomach),33(haematopoietic_and_lymphoid_tissue),2(kidney),4(soft_tissue),14(urinary_tract),18(pancreas),12(skin),16(prostate),17(lung),6(thyroid),29(upper_aerodigestive_tract),7(small_intestine),13(endometrium) TP53 429 0 307 108 0.260240963855422 TRUE TRUE ENSG00000109061.10 . BCM GRCh38.p13 chr17 10497287 10497287 + G G A Nonsense_Mutation SNP ENST00000226207.6 exon32 c.C4531T p.Q1511X exonic ENSG00000109061.10 . stopgain ENSG00000109061.10:ENST00000226207.6:exon32:c.C4531T:p.Q1511X 17p13.1 C3L-02809 8.332e-06 9.927e-05 0 0 0 0 0 0 rs758051881 5.6 . . . . U A . . . 0.777 . . . . . . . . . D D . . 8.810 45 0.996 D D 1.035 15.068 0.891 13.356 0.026 0.487 0.590 0.574 0.564 . 5.660 5.660 1.240 1.176 0.676 0.996 0.995 0.998 169 Myosin_tail . . . MYH1 109 0 95 46 0.326241134751773 TRUE NA ENSG00000101639.18 . BCM GRCh38.p13 chr18 13100492 13100492 + C C T Missense_Mutation SNP ENST00000506447.5 exon38 c.C6851T p.T2284I exonic ENSG00000101639.18 . nonsynonymous SNV ENSG00000101639.18:ENST00000506447.5:exon38:c.C6851T:p.T2284I 18p11.21 C3L-02809 . . . . . . . . rs374861272 10.17 D D . . D D . T D 0.557 T T D 0.207 . 0.624 0.489 T T T T D D 3.630 25.100 0.999 D D 0.782 8.439 0.754 8.887 1.000 0.732 0.725 0.725 0.728 . 5.520 5.520 4.290 1.025 0.599 1.000 0.998 0.997 481 . . . . CEP192 179 0 160 108 0.402985074626866 TRUE NA ENSG00000105549.11 . BCM GRCh38.p13 chr19 362307 362307 + G G A Missense_Mutation SNP ENST00000342640.9 exon8 c.C1033T p.R345C exonic ENSG00000105549.11 . nonsynonymous SNV ENSG00000105549.11:ENST00000342640.9:exon8:c.C1033T:p.R345C 19p13.3 C3L-02809 2.499e-05 0 0 0 0 4.524e-05 0 0 rs371760649 9.20 D D D D D N M T D 0.728 T T T 0.263 . 0.297 0.370 T T T T D D 3.405 24.400 0.999 N N 0.280 3.675 0.102 2.741 0.029 0.554 0.588 0.479 0.563 . 3.980 3.980 2.325 1.033 0.654 0.436 0.155 0.027 982 . . . ID=COSV61073683;OCCURENCE=1(large_intestine) THEG 113 0 127 23 0.153333333333333 TRUE TRUE ENSG00000105255.11 . BCM GRCh38.p13 chr19 4323108 4323108 + G G A Missense_Mutation SNP ENST00000221856.11 exon11 c.G1162A p.A388T exonic ENSG00000105255.11 . nonsynonymous SNV ENSG00000105255.11:ENST00000221856.11:exon11:c.G1162A:p.A388T 19p13.3 C3L-02809 8.46e-06 0.0001 0 0 0 0 0 0 rs370463498 1.20 T T B B N N L T N 0.374 T T D 0.123 . 0.168 0.524 T T T T T T 1.885 18.370 0.988 N N -0.629 0.936 -0.537 1.142 0.064 0.635 0.634 0.000 0.646 . 4.550 3.470 0.623 1.089 0.511 0.000 0.778 0.956 928 0.000 . . ID=COSV55695576;OCCURENCE=1(upper_aerodigestive_tract) FSD1 501 0 461 84 0.154128440366972 TRUE TRUE ENSG00000181143.15 . BCM GRCh38.p13 chr19 8952257 8952257 + C C A Missense_Mutation SNP ENST00000397910.8 exon3 c.G24513T p.Q8171H exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.G24513T:p.Q8171H 19p13.2 C3L-02809 . . . . . . . . . 1.15 T D . . . N . T N 0.116 T T T 0.029 0.200 0.014 . T . T T T T -1.242 0.002 0.328 N N -1.237 0.202 -1.378 0.163 0.009 0.554 0.574 0.618 0.564 . 3.310 -4.950 -5.435 -1.060 -0.199 0.000 0.000 0.000 917 . . . . MUC16 307 0 300 44 0.127906976744186 TRUE TRUE ENSG00000160505.16 . BCM GRCh38.p13 chr19 55858160 55858160 + C C T Missense_Mutation SNP ENST00000301295.11 exon3 c.C767T p.P256L exonic ENSG00000160505.16 . nonsynonymous SNV ENSG00000160505.16:ENST00000301295.11:exon3:c.C767T:p.P256L 19q13.43 C3L-02809 1.648e-05 0 0 0 0 2.997e-05 0 0 rs749461870 9.19 D D D D . N M T D 0.361 T D D 0.361 0.824 0.911 0.293 T T T T D T 2.859 23.100 0.998 N N 0.272 3.637 0.025 2.447 0.997 0.560 0.624 0.574 0.564 . 4.100 4.100 6.128 0.007 -0.176 0.457 0.002 0.001 895 NACHT_nucleoside_triphosphatase . . ID=COSV56722459;OCCURENCE=1(large_intestine) NLRP4 309 0 339 67 0.165024630541872 TRUE TRUE ENSG00000179709.8 . BCM GRCh38.p13 chr19 55962194 55962194 + G G A Missense_Mutation SNP ENST00000291971.7 exon4 c.G2170A p.A724T exonic ENSG00000179709.8 . nonsynonymous SNV ENSG00000179709.8:ENST00000291971.7:exon4:c.G2170A:p.A724T 19q13.43 C3L-02809 0.0003 0 0 0.0032 0 2.999e-05 0 6.064e-05 rs199475840 2.19 T D B B . N N D N 0.126 T T T 0.168 . 0.272 0.067 T T T T T T -0.444 0.155 0.596 N N -1.499 0.081 -1.656 0.061 0.000 0.487 0.574 0.574 0.564 . 1.930 -3.870 -1.832 -0.854 -0.833 0.000 0.001 0.000 946 . . . ID=COSV52583220;OCCURENCE=1(oesophagus),1(ovary) NLRP8 156 0 176 54 0.234782608695652 TRUE TRUE ENSG00000125885.13 . BCM GRCh38.p13 chr20 5993621 5993621 + G G A Missense_Mutation SNP ENST00000610722.4 exon18 c.G2356A p.V786I exonic ENSG00000125885.13;ENSG00000286235.1 . nonsynonymous SNV ENSG00000125885.13:ENST00000610722.4:exon18:c.G2356A:p.V786I,ENSG00000286235.1:ENST00000652720.1:exon18:c.G2356A:p.V786I 20p12.3 C3L-02809 . . . . . . . . rs768013365 0.20 T T B B N N N T N 0.088 T T T 0.099 0.446 0.221 0.106 T T T T T T 1.441 15.350 0.854 N N -0.707 0.802 -0.433 1.314 0.558 0.732 0.744 0.609 0.684 . 5.820 4.730 1.790 0.308 -0.063 0.852 1.000 0.987 659 . . . ID=COSV54511561;OCCURENCE=1(central_nervous_system),1(upper_aerodigestive_tract),1(endometrium) MCM8 90 0 97 30 0.236220472440945 TRUE TRUE ENSG00000101331.17 . BCM GRCh38.p13 chr20 32015030 32015030 + C C A Missense_Mutation SNP ENST00000452892.3 exon2 c.C157A p.P53T exonic ENSG00000101331.17 . nonsynonymous SNV ENSG00000101331.17:ENST00000452892.3:exon2:c.C157A:p.P53T 20q11.21 C3L-02809 . . . . . . . . . 17.19 D D D D D D M T D 0.926 D D D 0.676 0.589 0.674 0.131 T . D D D D 3.705 25.400 0.998 D D 0.789 8.577 0.728 8.313 1.000 0.563 0.563 0.658 0.636 . 4.530 4.530 7.264 1.026 0.599 1.000 1.000 0.999 500 . . . . CCM2L 60 0 107 20 0.15748031496063 TRUE TRUE ENSG00000169184.6 . BCM GRCh38.p13 chr22 27799629 27799629 + C C G Missense_Mutation SNP ENST00000302326.5 exon1 c.G915C p.Q305H exonic ENSG00000169184.6 . nonsynonymous SNV ENSG00000169184.6:ENST00000302326.5:exon1:c.G915C:p.Q305H 22q12.1 C3L-02809 . . . . . . . . . 4.19 T D P P . D N T N 0.236 T T D 0.109 0.139 0.762 . T T T T T T 2.164 20.600 0.859 D N -0.151 2.018 -0.089 2.079 1.000 0.455 0.547 0.607 0.555 . 4.880 3.860 0.943 0.710 0.448 0.980 0.943 0.844 982 . . . . MN1 180 0 213 20 0.0858369098712446 TRUE TRUE ENSG00000128268.12 . BCM GRCh38.p13 chr22 39488318 39488318 + G G A Missense_Mutation SNP ENST00000341184.7 exon2 c.G971A p.R324H exonic ENSG00000128268.12 . nonsynonymous SNV ENSG00000128268.12:ENST00000341184.7:exon2:c.G971A:p.R324H 22q13.1 C3L-02809 8.403e-06 9.944e-05 0 0 0 0 0 0 rs747893252 7.19 D T P B D D L . D 0.139 T T T 0.117 0.640 0.227 1.566 T D T T T D 2.737 22.900 0.998 D N 0.419 4.464 0.468 4.884 1.000 0.701 0.702 0.717 0.563 . 5.370 5.370 5.062 1.172 0.672 1.000 0.721 0.966 906 . . . ID=COSV100361829;OCCURENCE=1(endometrium) MGAT3 291 0 314 45 0.125348189415042 TRUE NA ENSG00000147162.14 . BCM GRCh38.p13 chrX 71563398 71563398 + A A G Missense_Mutation SNP ENST00000373719.8 exon18 c.A2335G p.M779V exonic ENSG00000147162.14 . nonsynonymous SNV ENSG00000147162.14:ENST00000373719.8:exon18:c.A2335G:p.M779V Xq13.1 C3L-02809 . . . . . . . . . 7.19 T T B B D D N T N 0.535 T T D 0.363 0.348 0.977 1.452 T T D T D D 1.813 17.820 0.444 D . . . . . 1.000 . . . . . 5.340 5.340 9.112 1.312 0.754 1.000 1.000 1.000 314 O-GlcNAc_transferase,_C-terminal . . ID=COSV65481612;OCCURENCE=1(upper_aerodigestive_tract) OGT 69 0 47 36 0.433734939759036 TRUE TRUE ENSG00000162385.11 . BCM GRCh38.p13 chr1 53233574 53233574 + A A G Silent SNP ENST00000371470.8 exon3 c.T226C p.L76L exonic ENSG00000162385.11 . synonymous SNV ENSG00000162385.11:ENST00000371470.8:exon3:c.T226C:p.L76L 1p32.3 C3L-02809 8.24e-06 0 0 0 0 0 0 6.06e-05 rs368006653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGOH 222 0 238 21 0.0810810810810811 TRUE NA ENSG00000162595.7 . BCM GRCh38.p13 chr1 68047181 68047181 + G G A Silent SNP ENST00000370981.3 exon4 c.C117T p.R39R exonic ENSG00000162595.7 . synonymous SNV ENSG00000162595.7:ENST00000370981.3:exon4:c.C117T:p.R39R 1p31.3 C3L-02809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63970826;OCCURENCE=1(liver) DIRAS3 437 0 413 57 0.121276595744681 TRUE TRUE ENSG00000189030.10 . BCM GRCh38.p13 chr1 156299169 156299169 + G G A Silent SNP ENST00000339922.5 exon1 c.C21T p.N7N exonic ENSG00000189030.10 . synonymous SNV ENSG00000189030.10:ENST00000339922.5:exon1:c.C21T:p.N7N 1q22 C3L-02809 . . . . . . . . rs138677254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VHLL 74 0 54 10 0.15625 TRUE NA ENSG00000143199.18 . BCM GRCh38.p13 chr1 167823060 167823060 + G G T Silent SNP ENST00000367851.9 exon29 c.C4116A p.I1372I exonic ENSG00000143199.18 . synonymous SNV ENSG00000143199.18:ENST00000367851.9:exon29:c.C4116A:p.I1372I 1q24.2 C3L-02809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADCY10 544 0 493 175 0.261976047904192 TRUE TRUE ENSG00000172752.14 . BCM GRCh38.p13 chr3 130440665 130440665 + C C T Silent SNP ENST00000265379.10 exon36 c.C6315T p.Y2105Y exonic ENSG00000172752.14 . synonymous SNV ENSG00000172752.14:ENST00000265379.10:exon36:c.C6315T:p.Y2105Y 3q22.1 C3L-02809 0.0003 0.0002 0.0006 0 0 0.0001 0 0.0013 rs374598016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55206059;OCCURENCE=1(skin) COL6A5 350 0 296 45 0.131964809384164 TRUE TRUE ENSG00000113212.7 . BCM GRCh38.p13 chr5 141174929 141174929 + C C G Silent SNP ENST00000231137.6 exon1 c.C2094G p.L698L exonic ENSG00000113212.7 . synonymous SNV ENSG00000113212.7:ENST00000231137.6:exon1:c.C2094G:p.L698L 5q31.3 C3L-02809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHB7 1486 0 1481 99 0.0626582278481013 NA TRUE ENSG00000226490.2 . BCM GRCh38.p13 chr8 141518472 141518472 + C C T Silent SNP ENST00000643770.1 exon2 c.C336T p.P112P exonic ENSG00000226490.2 . synonymous SNV ENSG00000226490.2:ENST00000643770.1:exon2:c.C336T:p.P112P 8q24.3 C3L-02809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC138647.1 172 0 254 35 0.121107266435986 TRUE NA ENSG00000154118.13 . BCM GRCh38.p13 chr16 87689836 87689836 + C C T Silent SNP ENST00000284262.3 exon4 c.C1476T p.P492P exonic ENSG00000154118.13 . synonymous SNV ENSG00000154118.13:ENST00000284262.3:exon4:c.C1476T:p.P492P 16q24.2 C3L-02809 0.0005 0 0 0 0 0 0 0.0027 rs537678092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . JPH3 106 0 91 67 0.424050632911392 TRUE NA ENSG00000184185.10 . BCM GRCh38.p13 chr17 21415396 21415396 + C C T Silent SNP ENST00000583088.6 exon3 c.C54T p.D18D exonic ENSG00000184185.10 . synonymous SNV ENSG00000184185.10:ENST00000583088.6:exon3:c.C54T:p.D18D 17p11.2 C3L-02809 3.31e-05 0 0 0.0001 0 0 0 0.0002 rs781815544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59163119;OCCURENCE=1(biliary_tract),1(stomach) KCNJ12 510 1 567 38 0.0628099173553719 NA TRUE ENSG00000161681.15 . BCM GRCh38.p13 chr19 50703682 50703682 + C C T Silent SNP ENST00000293441.5 exon10 c.G1371A p.A457A exonic ENSG00000161681.15 . synonymous SNV ENSG00000161681.15:ENST00000293441.5:exon10:c.G1371A:p.A457A 19q13.33 C3L-02809 . . . . . . . . rs1007850886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHANK1 104 0 111 21 0.159090909090909 TRUE NA ENSG00000142173.16 . BCM GRCh38.p13 chr21 46132366 46132366 + C C T Silent SNP ENST00000300527.9 exon28 c.C2874T p.H958H exonic ENSG00000142173.16 . synonymous SNV ENSG00000142173.16:ENST00000300527.9:exon28:c.C2874T:p.H958H 21q22.3 C3L-02809 2.564e-05 0.0002 0 0 0 1.562e-05 0 0 rs765550338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99385721;OCCURENCE=1(stomach) COL6A2 388 0 273 81 0.228813559322034 TRUE NA ENSG00000100364.18 . BCM GRCh38.p13 chr22 45202996 45202996 + G G A Silent SNP ENST00000336156.9 exon7 c.C846T p.H282H exonic ENSG00000100364.18 . synonymous SNV ENSG00000100364.18:ENST00000336156.9:exon7:c.C846T:p.H282H 22q13.31 C3L-02809 2.578e-05 0 0 0 0 4.629e-05 0 0 rs372186039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99326138;OCCURENCE=2(large_intestine) KIAA0930 81 0 75 14 0.157303370786517 TRUE TRUE ENSG00000138430.16 . BCM GRCh38.p13 chr2 174247725 174247729 + CTCAT CTCAT - Intron DEL NA NA NA NA intronic ENSG00000138430.16 . . . 2q31.1 C3L-02809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OLA1 350 1 294 70 0.192307692307692 TRUE TRUE ENSG00000135424.18 . BCM GRCh38.p13 chr12 55686217 55686217 + C C A Intron SNP NA NA NA NA intronic ENSG00000135424.18 . . . 12q13.2 C3L-02809 . . . . . . . . . 3.9 D . . . . D . . N . T T T 0.086 0.363 . . . . . . . T 2.225 21.100 0.997 D N 0.102 2.895 0.145 2.925 0.991 0.497 0.547 0.537 0.542 . 5.470 3.600 2.381 1.026 0.599 0.997 0.998 0.999 748 . . . . ITGA7 226 1 260 79 0.233038348082596 TRUE TRUE ENSG00000116254.18 . BCM GRCh38.p13 chr1 6130220 6130220 + G G A Missense_Mutation SNP ENST00000262450.8 exon22 c.C3371T p.P1124L exonic ENSG00000116254.18 . nonsynonymous SNV ENSG00000116254.18:ENST00000262450.8:exon22:c.C3371T:p.P1124L 1p36.31 C3N-02768 . . . . . . . . . 20.20 D D D D D D H D D 0.919 D D D 0.938 0.862 0.939 2.459 D D D D D D 4.513 32 0.999 D D 0.992 13.661 0.894 13.489 1.000 0.646 0.547 0.645 0.563 . 4.810 4.810 9.899 1.176 0.676 1.000 0.996 0.981 873 Helicase,_C-terminal . . . CHD5 145 0 201 28 0.122270742358079 TRUE TRUE ENSG00000142599.19 . BCM GRCh38.p13 chr1 8365899 8365899 + G G A Missense_Mutation SNP ENST00000400908.7 exon13 c.C1360T p.R454C exonic ENSG00000142599.19 . nonsynonymous SNV ENSG00000142599.19:ENST00000400908.7:exon13:c.C1360T:p.R454C 1p36.23 C3N-02768 . . . . . . . . . 16.19 D D D D . D M T D 0.882 T T D 0.549 0.559 0.818 2.297 D D D D D D 4.741 32 0.999 D D 0.934 11.974 0.942 15.669 1.000 0.672 0.702 0.702 0.711 . 5.970 5.970 10.003 1.176 0.676 1.000 1.000 0.991 840 . . . . RERE 341 0 395 61 0.133771929824561 TRUE NA ENSG00000058668.14 . BCM GRCh38.p13 chr1 203707953 203707953 + C C T Missense_Mutation SNP ENST00000357681.9 exon10 c.C1406T p.T469M exonic ENSG00000058668.14 . nonsynonymous SNV ENSG00000058668.14:ENST00000357681.9:exon10:c.C1406T:p.T469M 1q32.1 C3N-02768 8.237e-06 0 0 0 0 0 0 6.056e-05 rs778946356 18.19 D D D D D D H D D 0.912 D D D 0.952 0.856 0.958 1.315 T . D D D D 4.029 27.200 0.999 D D 1.061 15.969 0.949 16.008 1.000 0.732 0.588 0.744 0.714 . 5.540 5.540 7.874 1.026 0.599 1.000 0.838 0.992 586 . . . . ATP2B4 462 0 589 66 0.100763358778626 TRUE NA ENSG00000181873.13 . BCM GRCh38.p13 chr1 228174865 228174865 + C C A Missense_Mutation SNP ENST00000366711.4 exon2 c.C515A p.A172D exonic ENSG00000181873.13 . nonsynonymous SNV ENSG00000181873.13:ENST00000366711.4:exon2:c.C515A:p.A172D 1q42.13 C3N-02768 . . . . . . . . . 1.20 T T B B N N M T N 0.294 T T T 0.047 0.542 0.088 0.388 T T T T T T 0.719 8.629 0.472 N N -1.267 0.184 -1.257 0.239 1.000 0.672 0.702 0.460 0.636 . 4.650 2.730 0.166 0.138 -0.165 0.000 0.000 0.000 540 . . . ID=COSV64511631;OCCURENCE=2(thyroid) IBA57 144 0 234 43 0.155234657039711 TRUE TRUE ENSG00000169432.18 . BCM GRCh38.p13 chr2 166198901 166198901 + G G A Missense_Mutation SNP ENST00000642356.2 exon27 c.C5738T p.S1913L exonic ENSG00000169432.18 . nonsynonymous SNV ENSG00000169432.18:ENST00000642356.2:exon27:c.C5738T:p.S1913L 2q24.3 C3N-02768 . . . . . . . . . 15.18 D D . . N D M D D 0.264 T D D 0.550 0.407 0.862 0.104 T D D D D D 3.121 23.700 0.997 D D 0.260 3.582 0.406 4.404 0.556 0.581 0.574 0.565 0.621 . 6.080 6.080 4.224 1.176 0.618 1.000 1.000 0.996 346 . . . . SCN9A 287 0 351 28 0.0738786279683377 TRUE NA ENSG00000213672.8 . BCM GRCh38.p13 chr3 48682483 48682483 + C C A Missense_Mutation SNP ENST00000294129.7 exon3 c.G351T p.M117I exonic ENSG00000213672.8 . nonsynonymous SNV ENSG00000213672.8:ENST00000294129.7:exon3:c.G351T:p.M117I 3p21.31 C3N-02768 . . . . . . . . . 2.20 T T B B U N N T N 0.310 T T T 0.037 0.394 0.284 0.148 T T T T T D 1.606 16.410 0.981 D N -0.341 1.517 -0.193 1.803 1.000 0.707 0.725 0.702 0.714 . 4.720 3.820 1.220 0.952 0.599 1.000 0.543 0.970 2 . . . . NCKIPSD 386 0 430 47 0.0985324947589098 TRUE TRUE ENSG00000138468.16 . BCM GRCh38.p13 chr3 101337518 101337518 + G G A Missense_Mutation SNP ENST00000394095.7 exon17 c.C2471T p.P824L exonic ENSG00000138468.16 . nonsynonymous SNV ENSG00000138468.16:ENST00000394095.7:exon17:c.C2471T:p.P824L 3q12.3 C3N-02768 . . . . . . . . . 5.20 T T P B N D L T D 0.080 T T T 0.057 0.504 0.162 1.690 T T T T D D 2.871 23.200 0.985 D N 0.159 3.125 0.311 3.784 0.906 0.651 0.670 0.618 0.684 . 5.680 4.800 3.095 1.176 0.676 1.000 1.000 1.000 278 Ulp1_protease_family,_C-terminal_catalytic_domain . . . SENP7 34 0 65 8 0.10958904109589 TRUE TRUE ENSG00000078177.14 . BCM GRCh38.p13 chr4 40120372 40120372 + A A G Missense_Mutation SNP ENST00000261435.11 exon9 c.A2261G p.E754G exonic ENSG00000078177.14 . nonsynonymous SNV ENSG00000078177.14:ENST00000261435.11:exon9:c.A2261G:p.E754G 4p14 C3N-02768 . . . . . . . . . 4.20 D D B B N N L T D 0.068 T T T 0.068 0.206 0.463 0.093 T T T T T T 2.262 21.300 0.992 D N -0.048 2.344 -0.077 2.112 1.000 0.653 0.634 0.676 0.655 . 5.260 5.260 1.082 1.298 0.756 0.943 0.123 0.164 428 . . . . N4BP2 152 0 151 26 0.146892655367232 TRUE TRUE ENSG00000109654.15 . BCM GRCh38.p13 chr4 153294456 153294456 + T T G Missense_Mutation SNP ENST00000437508.6 exon5 c.T676G p.L226V exonic ENSG00000109654.15 . nonsynonymous SNV ENSG00000109654.15:ENST00000437508.6:exon5:c.T676G:p.L226V 4q31.3 C3N-02768 . . . . . . . . . 7.20 T T B B D D M T N 0.550 T T T 0.184 0.358 0.357 1.259 D T T T D D 1.740 17.300 0.994 D N -0.297 1.621 -0.148 1.916 0.999 0.732 0.590 0.744 0.655 . 6.170 3.530 3.116 -0.224 -0.187 1.000 0.990 0.993 605 B-box,_C-terminal . . . TRIM2 120 0 145 21 0.126506024096386 TRUE TRUE ENSG00000112182.15 . BCM GRCh38.p13 chr6 89950623 89950623 + G G A Missense_Mutation SNP ENST00000257749.9 exon7 c.C1483T p.R495W exonic ENSG00000112182.15 . nonsynonymous SNV ENSG00000112182.15:ENST00000257749.9:exon7:c.C1483T:p.R495W 6q15 C3N-02768 . . . . . . . . . 13.20 D D D D N D M T N 0.887 T T D 0.360 . 0.430 1.465 D T D T D D 3.593 25.000 0.999 D D 0.157 3.117 0.151 2.953 1.000 0.554 0.590 0.618 0.586 . 5.210 3.410 2.062 0.209 -0.130 1.000 0.997 0.997 809 . . . ID=COSV57588264;OCCURENCE=1(prostate) BACH2 163 0 217 24 0.0995850622406639 TRUE TRUE ENSG00000164542.12 . BCM GRCh38.p13 chr7 36326855 36326855 + G G A Missense_Mutation SNP ENST00000297063.10 exon7 c.C1468T p.H490Y exonic ENSG00000164542.12 . nonsynonymous SNV ENSG00000164542.12:ENST00000297063.10:exon7:c.C1468T:p.H490Y 7p14.2 C3N-02768 . . . . . . . . . 11.19 T D D P D D M . D 0.598 T T T 0.308 0.567 0.242 1.013 T T D T D D 3.427 24.500 0.997 D D 0.611 6.035 0.627 6.581 0.999 0.554 0.588 0.547 0.621 . 5.500 4.620 9.424 1.176 0.676 1.000 0.998 0.996 917 . . . . KIAA0895 249 0 328 51 0.134564643799472 TRUE TRUE ENSG00000002746.15 . BCM GRCh38.p13 chr7 43311916 43311916 + G G A Missense_Mutation SNP ENST00000395891.7 exon4 c.G181A p.V61I exonic ENSG00000002746.15 . nonsynonymous SNV ENSG00000002746.15:ENST00000395891.7:exon4:c.G181A:p.V61I 7p13 C3N-02768 3.314e-05 0 0 0 0 0 0.0011 0.0002 rs770727253 1.20 T T B B N N L T N 0.187 T T T 0.044 0.083 0.202 0.402 T T T T T T 1.691 16.960 0.992 D N -0.463 1.250 -0.341 1.483 0.992 0.615 0.547 0.659 0.564 . 5.760 3.250 3.055 0.245 0.676 0.997 0.438 0.960 929 . . . ID=COSV67836527;OCCURENCE=1(breast),1(oesophagus),1(stomach),1(pancreas) HECW1 331 0 492 52 0.0955882352941176 TRUE TRUE ENSG00000205277.9 . BCM GRCh38.p13 chr7 101006557 101006557 + G G T Nonsense_Mutation SNP ENST00000379442.7 exon6 c.G15472T p.E5158X exonic ENSG00000205277.9 . stopgain ENSG00000205277.9:ENST00000379442.7:exon6:c.G15472T:p.E5158X 7q22.1 C3N-02768 . . . . . . . . . 3.5 . . . . . A . . . 0.561 . . . . . . . . . D D . . 8.194 41 0.972 N N 0.073 2.779 -0.347 1.470 0.000 0.554 0.574 0.602 0.542 . 2.990 0.773 0.571 0.111 0.597 0.007 0.019 0.034 818 . . . . MUC12 148 0 175 42 0.193548387096774 TRUE TRUE ENSG00000196456.13 . BCM GRCh38.p13 chr7 150397503 150397503 + A A T Missense_Mutation SNP ENST00000329630.10 exon3 c.A1022T p.H341L exonic ENSG00000196456.13 . nonsynonymous SNV ENSG00000196456.13:ENST00000329630.10:exon3:c.A1022T:p.H341L 7q36.1 C3N-02768 . . . . . . . . . 4.19 D T B B . N N T D 0.218 T T D 0.036 0.521 0.242 1.182 D T T T T T 0.815 9.541 0.945 N N -1.037 0.366 -0.975 0.521 0.989 0.651 0.654 0.780 0.684 . 3.780 -0.251 0.514 -1.220 0.552 0.000 0.010 0.959 929 Zinc_finger_C2H2-type . . . ZNF775 524 0 759 84 0.099644128113879 TRUE TRUE ENSG00000106565.18 . BCM GRCh38.p13 chr7 150793202 150793218 + AGTGTCGATGTATAAAA AGTGTCGATGTATAAAA - Frame_Shift_Del DEL ENST00000326442.10 exon5 c.470_486del p.F157Cfs*3 exonic ENSG00000106565.18 . frameshift deletion ENSG00000106565.18:ENST00000326442.10:exon5:c.470_486del:p.F157Cfs*3 7q36.1 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM176B 697 0 927 87 0.0857988165680473 TRUE TRUE ENSG00000261150.3 . BCM GRCh38.p13 chr8 143867291 143867291 + G G C Missense_Mutation SNP ENST00000615648.2 exon2 c.C5963G p.P1988R exonic ENSG00000261150.3 . nonsynonymous SNV ENSG00000261150.3:ENST00000615648.2:exon2:c.C5963G:p.P1988R 8q24.3 C3N-02768 . . . . . . . . . 6.14 . T . . . D L . . 0.216 T T D 0.325 0.640 0.675 . T T T T D D 3.055 23.500 0.996 D D 0.156 3.114 0.093 2.708 1.000 0.696 0.610 0.723 0.563 . 4.760 4.760 4.673 1.176 0.618 0.989 0.002 0.002 964 . . . . EPPK1 194 0 381 44 0.103529411764706 TRUE TRUE ENSG00000197694.18 . BCM GRCh38.p13 chr9 128627404 128627404 + C C T Nonsense_Mutation SNP ENST00000372731.8 exon49 c.C6580T p.Q2194X exonic ENSG00000197694.18 . stopgain ENSG00000197694.18:ENST00000372731.8:exon49:c.C6580T:p.Q2194X 9q34.11 C3N-02768 . . . . . . . . . 5.6 . . . . D A . . . 0.461 . . . . . . . . . D D . . 9.062 47 0.997 D N 1.078 16.613 0.936 15.396 1.000 0.672 0.702 0.702 0.711 . 5.400 5.400 7.510 0.966 0.530 1.000 0.996 0.896 352 . . . . SPTAN1 204 0 169 88 0.342412451361868 TRUE TRUE ENSG00000151655.19 . BCM GRCh38.p13 chr10 7731929 7731929 + T T C Missense_Mutation SNP ENST00000358415.9 exon13 c.T1580C p.I527T exonic ENSG00000151655.19 . nonsynonymous SNV ENSG00000151655.19:ENST00000358415.9:exon13:c.T1580C:p.I527T 10p14 C3N-02768 . . . . . . . . . 14.20 D D D D D D M T D 0.920 T T D 0.495 0.711 0.476 0.475 T T D T D D 4.128 28.000 0.998 D D 0.818 9.152 0.753 8.866 1.000 0.487 0.574 0.574 0.564 . 5.440 5.440 7.434 1.126 0.654 1.000 0.999 0.979 917 . . . . ITIH2 148 0 212 33 0.13469387755102 TRUE TRUE ENSG00000176273.15 . BCM GRCh38.p13 chr10 93894197 93894197 + C C T Missense_Mutation SNP ENST00000427197.2 exon1 c.C164T p.S55F exonic ENSG00000176273.15 . nonsynonymous SNV ENSG00000176273.15:ENST00000427197.2:exon1:c.C164T:p.S55F 10q23.33 C3N-02768 . . . . . . . . . 3.20 D D B B N N L T N 0.163 T T D 0.213 0.522 0.103 0.263 T T T T T T 1.192 13.580 0.930 N N -0.692 0.827 -0.752 0.825 1.000 0.267 0.219 0.520 0.250 . 3.640 2.720 0.470 0.930 0.467 0.016 0.035 0.006 234 . . . . SLC35G1 110 0 151 12 0.0736196319018405 TRUE NA ENSG00000148965.10 . BCM GRCh38.p13 chr11 18231580 18231580 + G G T Missense_Mutation SNP ENST00000278222.7 exon4 c.C315A p.N105K exonic ENSG00000148965.10;ENSG00000255071.3 . nonsynonymous SNV ENSG00000148965.10:ENST00000278222.7:exon4:c.C315A:p.N105K,ENSG00000255071.3:ENST00000524555.3:exon6:c.C549A:p.N183K 11p15.1 C3N-02768 2.472e-05 0 0 0 0.0002 2.998e-05 0 0 rs541989724 2.19 D D P P . N L T N 0.274 T T T 0.145 0.655 0.048 0.389 T T T T T T 1.440 15.350 0.871 N N -0.839 0.600 -1.010 0.476 0.309 0.554 0.547 0.602 0.564 . 3.260 -1.490 0.873 -0.861 -1.131 0.950 0.000 0.000 862 . . . . SAA4 315 0 340 115 0.252747252747253 TRUE TRUE ENSG00000179292.5 . BCM GRCh38.p13 chr11 66295013 66295013 + G G A Missense_Mutation SNP ENST00000327259.5 exon2 c.G767A p.R256H exonic ENSG00000179292.5 . nonsynonymous SNV ENSG00000179292.5:ENST00000327259.5:exon2:c.G767A:p.R256H 11q13.2 C3N-02768 . . . . . . . . . 14.19 D D D D D D L . D 0.610 T T D 0.487 0.736 0.291 . T T D D D D 4.442 31 0.999 D D 0.818 9.138 0.756 8.933 1.000 0.646 0.610 0.645 0.563 . 4.210 4.210 9.685 1.168 0.670 1.000 1.000 0.998 91 . . . ID=COSV59174702;OCCURENCE=1(large_intestine),1(lung) TMEM151A 394 0 640 69 0.0973201692524683 TRUE TRUE ENSG00000172830.13 . BCM GRCh38.p13 chr11 67310084 67310084 + G G A Nonsense_Mutation SNP ENST00000308127.9 exon13 c.G1428A p.W476X exonic ENSG00000172830.13 . stopgain ENSG00000172830.13:ENST00000308127.9:exon13:c.G1428A:p.W476X 11q13.2 C3N-02768 . . . . . . . . . 4.6 . . . . N D . . . 0.047 . . . . . . . . . D D . . 7.804 39 0.988 D N 0.755 7.970 0.613 6.389 1.000 0.706 0.547 0.710 0.636 . 4.650 4.650 3.675 1.176 0.676 1.000 1.000 0.997 397 . . . . SSH3 149 0 149 72 0.32579185520362 TRUE TRUE ENSG00000186174.12 . BCM GRCh38.p13 chr11 118900819 118900819 + G G A Missense_Mutation SNP ENST00000334801.7 exon6 c.C2924T p.S975L exonic ENSG00000186174.12 . nonsynonymous SNV ENSG00000186174.12:ENST00000334801.7:exon6:c.C2924T:p.S975L 11q23.3 C3N-02768 2.478e-05 0 8.64e-05 0 0 3.005e-05 0 0 rs147776799 14.20 D D D D D D M T D 0.839 T T D 0.391 . 0.393 0.732 T D T T D D 4.042 27.300 0.999 D D 0.694 7.043 0.704 7.822 1.000 0.707 0.577 0.696 0.714 . 5.110 5.110 7.763 1.176 0.676 1.000 0.937 0.971 463 . . . ID=COSV52689604;OCCURENCE=1(skin) BCL9L 142 0 136 88 0.392857142857143 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3N-02768 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 280 0 337 148 0.305154639175258 TRUE TRUE ENSG00000135503.13 . BCM GRCh38.p13 chr12 51981034 51981034 + G G A Missense_Mutation SNP ENST00000257963.9 exon4 c.G646A p.G216S exonic ENSG00000135503.13 . nonsynonymous SNV ENSG00000135503.13:ENST00000257963.9:exon4:c.G646A:p.G216S 12q13.13 C3N-02768 . . . . . . . . . 19.20 D D D D D D H D D 0.963 D D D 0.942 0.817 0.985 2.167 D T D D D D 4.351 30 0.999 D D 1.108 17.872 1.003 19.039 1.000 0.732 0.590 0.744 0.662 . 5.120 5.120 10.003 1.176 0.674 1.000 1.000 0.996 661 Protein_kinase_domain;Protein_kinase,_ATP_binding_site . . ID=COSV57777072;OCCURENCE=2(large_intestine),1(endometrium) ACVR1B 124 0 141 28 0.165680473372781 TRUE TRUE ENSG00000139648.7 . BCM GRCh38.p13 chr12 52548744 52548744 + G G A Missense_Mutation SNP ENST00000267119.6 exon4 c.C770T p.S257F exonic ENSG00000139648.7 . nonsynonymous SNV ENSG00000139648.7:ENST00000267119.6:exon4:c.C770T:p.S257F 12q13.13 C3N-02768 . . . . . . . . . 13.20 D T D D N N H D D 0.346 D D D 0.452 0.513 0.935 0.106 T D T D D D 3.429 24.500 0.998 N N 0.473 4.833 0.317 3.816 0.949 0.497 0.590 0.547 0.542 . 4.450 4.450 0.260 1.176 0.676 0.000 1.000 0.985 856 Intermediate_filament,_rod_domain . . . KRT71 323 0 449 53 0.105577689243028 TRUE NA ENSG00000152137.7 . BCM GRCh38.p13 chr12 119179398 119179398 + G G A Missense_Mutation SNP ENST00000281938.7 exon1 c.G86A p.R29H exonic ENSG00000152137.7 . nonsynonymous SNV ENSG00000152137.7:ENST00000281938.7:exon1:c.G86A:p.R29H 12q24.23 C3N-02768 . . . . . . . . . 16.20 D D D P D D M D D 0.720 D D D 0.759 0.445 0.996 0.799 T T D D D T 4.390 31 1.000 D D 0.518 5.180 0.525 5.392 1.000 0.767 0.563 0.851 0.639 . 4.420 4.420 9.151 1.083 0.676 1.000 0.999 0.995 964 . . . ID=COSV56139133;OCCURENCE=1(large_intestine) HSPB8 572 0 619 198 0.24235006119951 TRUE NA ENSG00000139364.10 . BCM GRCh38.p13 chr12 125653844 125653844 + C C A Missense_Mutation SNP ENST00000299308.7 exon9 c.C2371A p.P791T exonic ENSG00000139364.10 . nonsynonymous SNV ENSG00000139364.10:ENST00000299308.7:exon9:c.C2371A:p.P791T 12q24.32 C3N-02768 . . . . . . . . . 2.20 T T P B N D L T N 0.049 T T T 0.034 0.238 0.055 0.445 T T T T T T 0.420 5.650 0.185 D N -0.383 1.421 -0.362 1.441 0.760 0.732 0.574 0.744 0.564 . 5.810 3.970 2.637 1.026 0.599 0.492 0.857 0.747 937 . . . . TMEM132B 395 0 467 44 0.086105675146771 TRUE TRUE ENSG00000184564.11 . BCM GRCh38.p13 chr13 85796175 85796175 + C C A Missense_Mutation SNP ENST00000647374.2 exon2 c.G334T p.G112C exonic ENSG00000184564.11 . nonsynonymous SNV ENSG00000184564.11:ENST00000647374.2:exon2:c.G334T:p.G112C 13q31.1 C3N-02768 . . . . . . . . . 10.20 D D D P D D M T N 0.386 T T D 0.208 0.411 0.830 0.207 T T T T D T 2.937 23.300 0.988 D D 0.547 5.422 0.564 5.802 0.998 0.487 0.574 0.547 0.564 . 6.170 5.330 3.864 0.126 0.599 1.000 0.996 0.983 973 . . . . SLITRK6 141 0 145 17 0.104938271604938 TRUE TRUE ENSG00000184986.11 . BCM GRCh38.p13 chr14 105529349 105529349 + G G A Missense_Mutation SNP ENST00000392519.7 exon2 c.G515A p.R172H exonic ENSG00000184986.11 . nonsynonymous SNV ENSG00000184986.11:ENST00000392519.7:exon2:c.G515A:p.R172H 14q32.33 C3N-02768 . . . . . . . . . 6.19 T T D P U D L . N 0.309 T T D 0.074 0.229 0.194 2.165 T T T T D D 4.030 27.200 0.999 D N 0.162 3.138 0.203 3.197 1.000 0.583 0.609 0.615 0.568 . 4.290 3.320 2.459 1.175 0.614 1.000 1.000 0.989 952 . . . ID=COSV66796086;OCCURENCE=1(large_intestine),1(endometrium) TMEM121 343 0 442 119 0.212121212121212 TRUE TRUE ENSG00000179938.12 . BCM GRCh38.p13 chr15 30089295 30089295 + G G C Missense_Mutation SNP ENST00000567927.1 exon11 c.G846C p.R282S exonic ENSG00000179938.12 . nonsynonymous SNV ENSG00000179938.12:ENST00000567927.1:exon11:c.G846C:p.R282S 15q13.2 C3N-02768 . . . . . . . . . 4.15 T D . . . N M T D 0.104 T T T 0.026 . 0.081 2.121 . T T T D . 1.633 16.590 0.967 N N -0.721 0.778 -0.935 0.573 0.000 0.554 0.588 0.618 0.621 . 1.480 0.478 0.329 -1.211 0.314 0.012 0.000 0.013 483 . . . . GOLGA8J 47 0 46 12 0.206896551724138 NA TRUE ENSG00000134152.11 . BCM GRCh38.p13 chr15 34152873 34152873 + G G A Nonsense_Mutation SNP ENST00000256544.8 exon4 c.C355T p.R119X exonic ENSG00000134152.11 . stopgain ENSG00000134152.11:ENST00000256544.8:exon4:c.C355T:p.R119X 15q14 C3N-02768 . . . . . . . . . 5.6 . . . . D A . . . 0.384 . . . . . . . . . D D . . 6.687 36 0.997 D N 0.719 7.393 0.546 5.605 0.998 0.732 0.654 0.725 0.728 . 5.470 2.510 3.945 1.155 0.676 1.000 1.000 0.998 659 . . . . KATNBL1 296 0 399 54 0.119205298013245 NA TRUE ENSG00000138622.4 . BCM GRCh38.p13 chr15 73343455 73343455 + G G A Missense_Mutation SNP ENST00000261917.4 exon2 c.C1139T p.T380M exonic ENSG00000138622.4 . nonsynonymous SNV ENSG00000138622.4:ENST00000261917.4:exon2:c.C1139T:p.T380M 15q24.1 C3N-02768 . . . . . . . . . 19.19 D D D D . D M D D 0.653 D D D 0.889 0.561 0.998 1.721 D D D D D D 4.090 27.700 0.999 D D 0.853 9.899 0.851 11.808 1.000 0.707 0.574 0.725 0.564 . 5.340 5.340 9.866 1.157 0.654 1.000 0.979 0.992 635 Ion_transport_domain . . ID=COSV56086245;OCCURENCE=3(large_intestine),1(pancreas),1(upper_aerodigestive_tract) HCN4 261 0 347 48 0.121518987341772 TRUE TRUE ENSG00000169375.16 . BCM GRCh38.p13 chr15 75381635 75381635 + G G A Missense_Mutation SNP ENST00000394947.8 exon18 c.C3266T p.S1089L exonic ENSG00000169375.16 . nonsynonymous SNV ENSG00000169375.16:ENST00000394947.8:exon18:c.C3266T:p.S1089L 15q24.2 C3N-02768 . . . . . . . . rs929890594 11.20 T T D P D D M T D 0.417 T T D 0.337 0.292 0.675 1.512 D T T T D D 4.314 29.700 0.999 D D 0.578 5.705 0.624 6.541 1.000 0.722 0.699 0.723 0.714 . 5.450 5.450 9.874 1.106 0.507 1.000 0.965 0.989 530 Sin3,_C-terminal . . . SIN3A 193 0 252 31 0.109540636042403 TRUE NA ENSG00000157766.18 . BCM GRCh38.p13 chr15 88847321 88847321 + C C T Missense_Mutation SNP ENST00000439576.7 exon8 c.C1508T p.T503M exonic ENSG00000157766.18 . nonsynonymous SNV ENSG00000157766.18:ENST00000439576.7:exon8:c.C1508T:p.T503M 15q26.1 C3N-02768 3.587e-05 0 0 0 0 7.452e-05 0 0 rs779937883 7.19 D D D P . N L T D 0.520 T T T 0.161 0.577 0.043 0.205 T T T T D D 3.285 24.100 0.993 D N 0.453 4.692 0.424 4.536 0.921 0.581 0.574 0.576 0.613 . 5.540 5.540 4.998 1.012 0.583 0.997 0.383 0.200 969 Link_domain . . ID=COSV100719479;OCCURENCE=1(stomach) ACAN 208 0 276 35 0.112540192926045 TRUE NA ENSG00000169344.15 . BCM GRCh38.p13 chr16 20348877 20348877 + G G A Missense_Mutation SNP ENST00000302509.8 exon3 c.C424T p.R142W exonic ENSG00000169344.15 . nonsynonymous SNV ENSG00000169344.15:ENST00000302509.8:exon3:c.C424T:p.R142W 16p12.3 C3N-02768 . . . . . . . . . 3.19 T T B B N N L D N 0.214 T D D 0.368 0.673 0.030 0.823 T . T T T T -0.420 0.175 0.810 N N -1.772 0.027 -1.941 0.018 1.000 0.526 0.616 0.596 0.584 . 5.450 -10.900 -3.370 -2.600 -0.948 0.000 0.000 0.029 829 EGF-like_domain;EGF-like_calcium-binding_domain . . . UMOD 396 0 472 100 0.174825174825175 TRUE NA ENSG00000090863.12 . BCM GRCh38.p13 chr16 74457914 74457914 + A A - Frame_Shift_Del DEL ENST00000422840.7 exon24 c.3225delT p.K1076Nfs*27 exonic ENSG00000090863.12 . frameshift deletion ENSG00000090863.12:ENST00000422840.7:exon24:c.3225delT:p.K1076Nfs*27 16q23.1 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLG1 176 0 247 15 0.0572519083969466 NA TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675137 7675137 + C C G Missense_Mutation SNP ENST00000269305.8 exon5 c.G475C p.A159P exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon5:c.G475C:p.A159P 17p13.1 C3N-02768 . . . . . . . . rs730882000 19.20 D D D D D D M D D 0.893 D D D 0.815 0.925 0.986 1.881 T D D D D D 3.398 24.400 0.996 D D 0.360 4.107 0.165 3.018 0.988 0.722 0.698 0.698 0.735 . 5.590 2.400 5.040 1.026 0.599 1.000 0.863 0.456 434 p53,_DNA-binding_domain . . ID=COSV52661847;OCCURENCE=1(salivary_gland),2(breast),7(liver),2(oesophagus),5(large_intestine),1(central_nervous_system),2(biliary_tract),1(bone),3(haematopoietic_and_lymphoid_tissue),1(urinary_tract),1(kidney),1(pancreas),26(lung),1(thyroid),5(upper_aerodigestive_tract),2(endometrium) TP53 341 0 283 108 0.276214833759591 TRUE TRUE ENSG00000065325.13 . BCM GRCh38.p13 chr17 9857439 9857439 + C C T Missense_Mutation SNP ENST00000262441.10 exon6 c.C628T p.R210C exonic ENSG00000065325.13 . nonsynonymous SNV ENSG00000065325.13:ENST00000262441.10:exon6:c.C628T:p.R210C 17p13.1 C3N-02768 4.122e-05 0 0.0002 0 0 4.499e-05 0 0 rs575133662 15.20 D D D D N D H T D 0.960 T T D 0.475 0.928 0.928 1.141 T D D D D D 4.410 31 0.988 D D 0.962 12.780 0.868 12.452 0.014 0.487 0.574 0.574 0.564 . 5.280 5.280 5.460 1.026 0.599 1.000 1.000 0.983 940 GPCR,_family_2-like . . ID=COSV52324255;OCCURENCE=1(ovary),1(stomach),1(thyroid),1(endometrium) GLP2R 118 0 121 51 0.296511627906977 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11769213 11769213 + C C T Missense_Mutation SNP ENST00000262442.9 exon38 c.C7436T p.T2479M exonic ENSG00000007174.18 . nonsynonymous SNV ENSG00000007174.18:ENST00000262442.9:exon38:c.C7436T:p.T2479M 17p12 C3N-02768 1.65e-05 0.0002 0 0 0 0 0 0 rs546685970 4.19 D . P P N N L T D 0.356 T T D 0.112 . 0.598 0.332 T T T T T D 2.267 21.400 0.998 N N -0.318 1.570 -0.447 1.291 0.000 0.487 0.574 0.574 0.564 . 5.710 1.050 0.518 1.026 0.599 0.000 0.092 0.456 837 AAA+_ATPase_domain . . ID=COSV52334403;OCCURENCE=1(large_intestine) DNAH9 620 0 618 191 0.236093943139679 TRUE TRUE ENSG00000176927.15 . BCM GRCh38.p13 chr17 30053272 30053272 + G G A Missense_Mutation SNP ENST00000394835.7 exon10 c.G1318A p.E440K exonic ENSG00000176927.15 . nonsynonymous SNV ENSG00000176927.15:ENST00000394835.7:exon10:c.G1318A:p.E440K 17q11.2 C3N-02768 . . . . . . . . . 7.20 D T P B N D M T N 0.280 T T T 0.122 0.385 0.713 0.405 T T T T D D 4.240 29.000 0.999 D D 0.574 5.664 0.607 6.310 0.932 0.487 0.590 0.574 0.530 . 5.830 5.830 2.799 1.106 0.596 1.000 0.999 0.974 814 . . . . EFCAB5 51 0 90 16 0.150943396226415 TRUE TRUE ENSG00000176927.15 . BCM GRCh38.p13 chr17 30053329 30053329 + G G A Missense_Mutation SNP ENST00000394835.7 exon10 c.G1375A p.E459K exonic ENSG00000176927.15 . nonsynonymous SNV ENSG00000176927.15:ENST00000394835.7:exon10:c.G1375A:p.E459K 17q11.2 C3N-02768 . . . . . . . . . 10.20 D D D P D D L T N 0.233 T T D 0.164 0.444 0.669 0.491 T T T T D D 3.300 24.100 0.999 D D 0.567 5.604 0.527 5.416 0.932 0.549 0.590 0.618 0.616 . 5.830 5.830 2.425 1.106 0.596 1.000 0.989 0.275 813 . . . . EFCAB5 107 0 172 27 0.135678391959799 TRUE TRUE ENSG00000176927.15 . BCM GRCh38.p13 chr17 30053473 30053473 + G G C Missense_Mutation SNP ENST00000394835.7 exon10 c.G1519C p.E507Q exonic ENSG00000176927.15 . nonsynonymous SNV ENSG00000176927.15:ENST00000394835.7:exon10:c.G1519C:p.E507Q 17q11.2 C3N-02768 . . . . . . . . . 4.20 T D D P N N M T N 0.141 T D T 0.189 0.145 0.651 0.106 T T T T T T 0.766 9.063 0.967 N N -0.220 1.822 -0.365 1.436 0.063 0.554 0.563 0.618 0.530 . 5.970 5.010 1.543 -0.087 -0.203 0.995 0.013 0.013 813 . . . . EFCAB5 190 1 306 41 0.118155619596542 TRUE TRUE ENSG00000176927.15 . BCM GRCh38.p13 chr17 30053497 30053497 + G G A Missense_Mutation SNP ENST00000394835.7 exon10 c.G1543A p.E515K exonic ENSG00000176927.15 . nonsynonymous SNV ENSG00000176927.15:ENST00000394835.7:exon10:c.G1543A:p.E515K 17q11.2 C3N-02768 . . . . . . . . . 0.20 T T B B N N L T N 0.088 T T T 0.030 0.328 0.267 0.111 T T T T T T 1.319 14.520 0.988 N N -0.932 0.481 -0.947 0.557 0.000 0.487 0.563 0.574 0.530 . 5.150 0.827 0.470 0.176 0.596 0.000 0.072 0.337 813 . . . . EFCAB5 244 1 374 64 0.146118721461187 TRUE TRUE ENSG00000176927.15 . BCM GRCh38.p13 chr17 30053683 30053683 + G G A Missense_Mutation SNP ENST00000394835.7 exon10 c.G1729A p.G577R exonic ENSG00000176927.15 . nonsynonymous SNV ENSG00000176927.15:ENST00000394835.7:exon10:c.G1729A:p.G577R 17q11.2 C3N-02768 . . . . . . . . . 6.20 D D D P N N M T N 0.095 T T T 0.121 0.245 0.694 0.122 T T T T D T 1.742 17.320 0.999 D N -0.099 2.179 -0.165 1.872 0.000 0.549 0.457 0.574 0.616 . 5.750 1.260 0.473 1.106 0.596 0.260 0.657 0.183 812 . . . . EFCAB5 278 0 470 79 0.143897996357013 TRUE TRUE ENSG00000167680.16 . BCM GRCh38.p13 chr19 4544521 4544521 + G G A Missense_Mutation SNP ENST00000586582.6 exon17 c.C1747T p.R583W exonic ENSG00000167680.16 . nonsynonymous SNV ENSG00000167680.16:ENST00000586582.6:exon17:c.C1747T:p.R583W 19p13.3 C3N-02768 . . . . . . . . . 8.18 . D D P U D L T . 0.382 T T D 0.136 0.521 0.117 0.665 D T T T D T 3.319 24.200 0.998 D D 0.099 2.883 0.043 2.511 0.999 0.635 0.547 0.644 0.563 . 3.220 2.160 4.964 0.868 0.497 0.998 0.833 0.213 952 . . . . SEMA6B 76 0 69 27 0.28125 TRUE TRUE ENSG00000130382.9 . BCM GRCh38.p13 chr19 6213365 6213365 + G G A Missense_Mutation SNP ENST00000252674.9 exon11 c.C1523T p.A508V exonic ENSG00000130382.9 . nonsynonymous SNV ENSG00000130382.9:ENST00000252674.9:exon11:c.C1523T:p.A508V 19p13.3 C3N-02768 . . . . . . . . . 8.19 D T B B U D M . N 0.743 T T D 0.333 0.618 0.396 1.982 D T T T D D 3.446 24.500 0.996 D N -0.116 2.126 -0.092 2.069 0.926 0.707 0.702 0.723 0.714 . 4.320 3.280 7.647 1.160 0.597 1.000 0.997 0.997 952 . . . . MLLT1 278 0 402 36 0.0821917808219178 TRUE NA ENSG00000104883.8 . BCM GRCh38.p13 chr19 7482091 7482091 + G G A Missense_Mutation SNP ENST00000221480.6 exon3 c.C370T p.R124W exonic ENSG00000104883.8 . nonsynonymous SNV ENSG00000104883.8:ENST00000221480.6:exon3:c.C370T:p.R124W 19p13.2 C3N-02768 4.53e-05 0 0 0 0 5.507e-05 0.0021 0 rs774587572 2.20 T T B B N N M T D 0.245 T T T 0.028 0.672 0.588 0.056 T T T T T T 1.494 15.700 0.993 N N -0.705 0.804 -0.742 0.839 0.877 0.646 0.551 0.645 0.605 . 4.760 -1.000 0.104 0.245 0.676 0.001 0.910 0.759 889 . . . . PEX11G 177 0 266 35 0.116279069767442 TRUE NA ENSG00000177380.14 . BCM GRCh38.p13 chr19 49138260 49138260 + C C T Missense_Mutation SNP ENST00000334186.9 exon16 c.C1909T p.R637W exonic ENSG00000177380.14 . nonsynonymous SNV ENSG00000177380.14:ENST00000334186.9:exon16:c.C1909T:p.R637W 19q13.33 C3N-02768 8.476e-06 0 0 0 0 1.536e-05 0 0 rs773800064 13.20 D D D D U D M T D 0.760 T T D 0.276 0.257 0.479 1.236 T D T T D D 3.631 25.200 0.999 D D 0.683 6.890 0.605 6.293 1.000 0.706 0.588 0.710 0.568 . 4.600 4.600 2.806 0.098 -0.236 1.000 0.998 0.959 631 . . . ID=COSV61952960;OCCURENCE=1(stomach),1(skin) PPFIA3 169 0 194 115 0.372168284789644 TRUE TRUE ENSG00000126583.11 . BCM GRCh38.p13 chr19 53892568 53892568 + G G A Missense_Mutation SNP ENST00000263431.4 exon7 c.G746A p.R249Q exonic ENSG00000126583.11 . nonsynonymous SNV ENSG00000126583.11:ENST00000263431.4:exon7:c.G746A:p.R249Q 19q13.42 C3N-02768 . . . . . . . . . 10.19 D T D P . D L T D 0.571 T T D 0.543 0.815 0.687 1.112 T D T T D D 3.745 25.600 1.000 D D 0.378 4.209 0.364 4.111 1.000 0.706 0.547 0.710 0.568 . 4.110 4.110 4.452 1.176 0.676 1.000 0.986 0.991 994 C2_domain . . . PRKCG 247 0 414 46 0.1 TRUE NA ENSG00000167646.14 . BCM GRCh38.p13 chr19 55161370 55161370 + C C T Missense_Mutation SNP ENST00000524407.7 exon7 c.G712A p.V238I exonic ENSG00000167646.14 . nonsynonymous SNV ENSG00000167646.14:ENST00000524407.7:exon7:c.G712A:p.V238I 19q13.42 C3N-02768 . . . . . . . . . 2.20 T T P B D N L T N 0.251 T T T 0.069 0.682 0.154 0.295 T T T T D T 2.120 20.300 0.994 N N -0.057 2.313 -0.039 2.231 1.000 0.598 0.610 0.607 0.639 . 4.150 3.110 1.439 0.992 0.582 0.606 0.993 0.998 988 Dynein_assembly_factor_3,_C-terminal_domain . . ID=COSV100788022;OCCURENCE=1(pancreas) DNAAF3 143 0 305 29 0.0868263473053892 TRUE NA ENSG00000087510.7 . BCM GRCh38.p13 chr20 56633545 56633545 + C C T Missense_Mutation SNP ENST00000201031.3 exon4 c.C779T p.S260L exonic ENSG00000087510.7 . nonsynonymous SNV ENSG00000087510.7:ENST00000201031.3:exon4:c.C779T:p.S260L 20q13.31 C3N-02768 . . . . . . . . . 20.20 D D D D D D M D D 0.856 D D D 0.944 0.864 0.985 1.932 D D D D D D 4.309 29.700 0.999 D D 0.996 13.811 0.937 15.440 1.000 0.677 0.563 0.673 0.530 . 5.930 5.930 7.769 1.026 0.599 1.000 0.927 0.978 976 Transcription_factor_AP-2,_C-terminal . . . TFAP2C 181 0 286 44 0.133333333333333 TRUE TRUE ENSG00000026036.22 . BCM GRCh38.p13 chr20 63688534 63688534 + G G A Missense_Mutation SNP ENST00000492259.6 exon19 c.G1813A p.D605N exonic ENSG00000026036.22;ENSG00000258366.9 . nonsynonymous SNV ENSG00000026036.22:ENST00000492259.6:exon19:c.G1813A:p.D605N,ENSG00000258366.9:ENST00000370018.7:exon21:c.G1729A:p.D577N 20q13.33 C3N-02768 1.995e-05 0 0 0.0001 0 1.795e-05 0 0 rs371161995 6.20 D T B B N N N D N 0.383 T D D 0.299 . 0.792 . T T T T T D 2.454 22.300 0.990 D N -0.281 1.661 -0.231 1.713 1.000 0.635 0.644 0.723 0.563 . 4.770 4.770 4.946 1.079 0.618 1.000 0.035 0.062 . ATP-dependent_helicase,_C-terminal . . ID=COSV58899923;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) RTEL1-TNFRSF6B 332 0 456 55 0.107632093933464 TRUE TRUE ENSG00000171189.17 . BCM GRCh38.p13 chr21 29561768 29561768 + C C A Nonsense_Mutation SNP ENST00000399907.5 exon15 c.G2212T p.E738X exonic ENSG00000171189.17 . stopgain ENSG00000171189.17:ENST00000399907.5:exon15:c.G2212T:p.E738X 21q21.3 C3N-02768 . . . . . . . . . 5.6 . . . . D A . . . 0.958 . . . . . . . . . D D . . 7.869 40 0.998 D N 1.072 16.389 0.881 12.976 1.000 0.487 0.574 0.574 0.564 . 4.960 4.960 7.870 1.026 0.599 1.000 0.875 0.772 937 Ionotropic_glutamate_receptor . . . GRIK1 325 0 369 54 0.127659574468085 TRUE TRUE ENSG00000042781.14 . BCM GRCh38.p13 chr1 215845823 215845823 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000042781.14 ENST00000307340.8:exon45:c.9055+1G>T . . 1q41 C3N-02768 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.125 33 0.994 D . 1.143 19.650 1.010 19.496 1.000 0.061 0.063 0.063 0.057 0.985 5.910 5.910 4.357 1.026 0.599 1.000 0.981 0.996 848 . . . . USH2A 484 0 579 68 0.105100463678516 TRUE TRUE ENSG00000123983.14 . BCM GRCh38.p13 chr2 222918156 222918156 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000123983.14 ENST00000357430.8:exon6:c.666+1G>A . . 2q36.1 C3N-02768 . . . . . . . . rs191324442 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.657 34 0.995 D . 1.253 29.778 1.116 28.999 1.000 0.322 0.319 0.084 0.243 0.988 5.740 5.740 9.444 1.176 0.676 1.000 0.954 0.968 932 . . . . ACSL3 63 0 51 23 0.310810810810811 TRUE NA ENSG00000144677.15 . BCM GRCh38.p13 chr3 37957144 37957144 + G G A Splice_Site SNP NA NA NA NA splicing ENSG00000144677.15 ENST00000273179.10:exon3:c.267+1G>A . . 3p22.2 C3N-02768 . . . . . . . . rs200957541 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.791 33 0.993 D . 1.018 14.499 0.838 11.359 1.000 0.109 0.071 0.060 0.125 0.886 4.960 4.050 6.839 1.176 0.676 1.000 1.000 1.000 636 . . . . CTDSPL 203 2 264 39 0.128712871287129 TRUE NA ENSG00000114204.14 . BCM GRCh38.p13 chr3 167452976 167452976 + G G A Silent SNP ENST00000476257.5 exon7 c.C924T p.T308T exonic ENSG00000114204.14 . synonymous SNV ENSG00000114204.14:ENST00000476257.5:exon7:c.C924T:p.T308T 3q26.1 C3N-02768 0.0002 0.0009 0 0 0 0.0001 0 0 rs140665807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52988479;OCCURENCE=1(kidney) SERPINI2 119 0 151 28 0.156424581005587 TRUE TRUE ENSG00000229924.3 . BCM GRCh38.p13 chr4 9173855 9173855 + C C T Silent SNP ENST00000512047.2 exon5 c.C189T p.C63C exonic ENSG00000229924.3 . synonymous SNV ENSG00000229924.3:ENST00000512047.2:exon5:c.C189T:p.C63C 4p16.1 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM90A26 361 0 359 115 0.242616033755274 NA TRUE ENSG00000184108.8 . BCM GRCh38.p13 chr4 188147114 188147114 + C C T Silent SNP ENST00000332517.4 exon6 c.C1149T p.I383I exonic ENSG00000184108.8 . synonymous SNV ENSG00000184108.8:ENST00000332517.4:exon6:c.C1149T:p.I383I 4q35.2 C3N-02768 4.945e-05 0 0 0 0 6.001e-05 0 0.0001 rs758081985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60193621;OCCURENCE=1(prostate),1(endometrium) TRIML1 144 0 169 20 0.105820105820106 TRUE TRUE ENSG00000081842.18 . BCM GRCh38.p13 chr5 140829903 140829903 + C C T Silent SNP ENST00000529310.6 exon1 c.C1812T p.N604N exonic ENSG00000081842.18 . synonymous SNV ENSG00000081842.18:ENST00000529310.6:exon1:c.C1812T:p.N604N 5q31.3 C3N-02768 8.254e-06 0 0 0 0 1.502e-05 0 0 rs782134190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHA6 770 0 707 213 0.231521739130435 TRUE NA ENSG00000204560.10 . BCM GRCh38.p13 chr6 30662953 30662953 + G G A Silent SNP ENST00000376442.8 exon8 c.C1386T p.A462A exonic ENSG00000204560.10 . synonymous SNV ENSG00000204560.10:ENST00000376442.8:exon8:c.C1386T:p.A462A 6p21.33 C3N-02768 5.172e-05 0.0002 0 0.0005 0 0 0 0 rs141437592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DHX16 387 0 434 48 0.0995850622406639 TRUE NA ENSG00000028839.10 . BCM GRCh38.p13 chr6 133984456 133984456 + A A G Silent SNP ENST00000237264.9 exon5 c.A363G p.T121T exonic ENSG00000028839.10 . synonymous SNV ENSG00000028839.10:ENST00000237264.9:exon5:c.A363G:p.T121T 6q23.2 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBPL1 145 0 173 28 0.139303482587065 TRUE TRUE ENSG00000105877.18 . BCM GRCh38.p13 chr7 21591292 21591292 + G G A Silent SNP ENST00000409508.8 exon14 c.G2382A p.E794E exonic ENSG00000105877.18 . synonymous SNV ENSG00000105877.18:ENST00000409508.8:exon14:c.G2382A:p.E794E 7p15.3 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60984471;OCCURENCE=1(skin) DNAH11 75 0 128 23 0.152317880794702 TRUE TRUE ENSG00000254656.2 . BCM GRCh38.p13 chr14 100884477 100884477 + G G A Silent SNP ENST00000649591.1 exon4 c.C312T p.N104N exonic ENSG00000254656.2 . synonymous SNV ENSG00000254656.2:ENST00000649591.1:exon4:c.C312T:p.N104N 14q32.2 C3N-02768 4.978e-05 9.692e-05 0 0 0 7.559e-05 0 0 rs370765201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66016441;OCCURENCE=1(skin) RTL1 199 0 286 59 0.171014492753623 TRUE TRUE ENSG00000067141.17 . BCM GRCh38.p13 chr15 73260305 73260305 + C C T Silent SNP ENST00000261908.11 exon15 c.C2238T p.H746H exonic ENSG00000067141.17 . synonymous SNV ENSG00000067141.17:ENST00000261908.11:exon15:c.C2238T:p.H746H 15q24.1 C3N-02768 3.299e-05 0 0 0 0 0 0 0.0002 rs148124514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEO1 140 0 156 44 0.22 TRUE NA ENSG00000172349.17 . BCM GRCh38.p13 chr15 81299396 81299396 + G G A Silent SNP ENST00000302987.8 exon13 c.G2070A p.P690P exonic ENSG00000172349.17 . synonymous SNV ENSG00000172349.17:ENST00000302987.8:exon13:c.G2070A:p.P690P 15q25.1 C3N-02768 8.263e-06 0 0 0 0 1.503e-05 0 0 rs775632260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL16 196 0 247 29 0.105072463768116 TRUE NA ENSG00000149435.12 . BCM GRCh38.p13 chr20 23986089 23986089 + A A G Silent SNP ENST00000335694.4 exon3 c.T291C p.N97N exonic ENSG00000149435.12 . synonymous SNV ENSG00000149435.12:ENST00000335694.4:exon3:c.T291C:p.N97N 20p11.21 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GGTLC1 295 0 404 54 0.117903930131004 NA TRUE ENSG00000124126.14 . BCM GRCh38.p13 chr20 48646012 48646012 + G G A Silent SNP ENST00000371941.4 exon26 c.C3351T p.D1117D exonic ENSG00000124126.14 . synonymous SNV ENSG00000124126.14:ENST00000371941.4:exon26:c.C3351T:p.D1117D 20q13.13 C3N-02768 0.0002 9.651e-05 0 0 0 0 0 0.0015 rs560827696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PREX1 425 0 535 150 0.218978102189781 TRUE NA ENSG00000075043.18 . BCM GRCh38.p13 chr20 63406935 63406935 + G G A Silent SNP ENST00000359125.6 exon17 c.C2328T p.P776P exonic ENSG00000075043.18 . synonymous SNV ENSG00000075043.18:ENST00000359125.6:exon17:c.C2328T:p.P776P 20q13.33 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNQ2 228 0 260 67 0.204892966360856 TRUE TRUE ENSG00000183421.12 . BCM GRCh38.p13 chr21 41740883 41740883 + G G A Silent SNP ENST00000352483.3 exon9 c.C2454T p.G818G exonic ENSG00000183421.12 . synonymous SNV ENSG00000183421.12:ENST00000352483.3:exon9:c.C2454T:p.G818G 21q22.3 C3N-02768 0.0001 0 0.0005 0 0 4.757e-05 0 0.0002 rs767725466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100205401;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) RIPK4 161 0 162 31 0.160621761658031 TRUE NA ENSG00000224960.5 . BCM GRCh38.p13 chrX 27462502 27462502 + C C T Silent SNP ENST00000412172.4 exon1 c.G795A p.Q265Q exonic ENSG00000224960.5 . synonymous SNV ENSG00000224960.5:ENST00000412172.4:exon1:c.G795A:p.Q265Q Xp21.3 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP4R3C 170 0 173 12 0.0648648648648649 TRUE TRUE ENSG00000116580.18 . BCM GRCh38.p13 chr1 155764919 155764919 + G G A Intron SNP NA NA NA NA intronic ENSG00000116580.18 . . . 1q22 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GON4L 257 2 316 87 0.215880893300248 NA TRUE ENSG00000134640.2 . BCM GRCh38.p13 chr11 92984808 92984808 + T T C IGR SNP NA NA NA NA intergenic ENSG00000134640.2;ENSG00000242807.1 dist=2026;dist=67587 . . 11q14.3 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTNR1B 90 0 117 20 0.145985401459854 TRUE TRUE ENSG00000103066.13 . BCM GRCh38.p13 chr16 68253500 68253500 + G G A Intron SNP NA NA NA NA intronic ENSG00000103066.13 . . . 16q22.1 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLA2G15 94 0 155 12 0.0718562874251497 TRUE NA ENSG00000188755.10 . BCM GRCh38.p13 chr17 62273815 62273815 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000188755.10 . . . 17q23.2 C3N-02768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D3P2 734 2 1106 130 0.105177993527508 TRUE NA ENSG00000116213.16 . BCM GRCh38.p13 chr1 3635264 3635264 + G G A Missense_Mutation SNP ENST00000270708.12 exon7 c.C634T p.R212W exonic ENSG00000116213.16 . nonsynonymous SNV ENSG00000116213.16:ENST00000270708.12:exon7:c.C634T:p.R212W 1p36.32 C3L-03123 1.659e-05 0 0 0 0 3.019e-05 0 0 rs762956397 16.20 D D D D D D M T D 0.886 D T D 0.422 . 0.679 0.729 T T D D D D 4.060 27.400 0.999 D D 0.822 9.229 0.705 7.849 1.000 0.706 0.725 0.710 0.714 . 5.650 5.650 6.036 1.120 0.676 1.000 0.035 0.020 945 Anaphase-promoting_complex_subunit_4,_WD40_domain . . . WRAP73 332 0 368 39 0.0958230958230958 TRUE NA ENSG00000158292.7 . BCM GRCh38.p13 chr1 6254698 6254698 + G G A Missense_Mutation SNP ENST00000377893.3 exon2 c.C208T p.R70W exonic ENSG00000158292.7 . nonsynonymous SNV ENSG00000158292.7:ENST00000377893.3:exon2:c.C208T:p.R70W 1p36.31 C3L-03123 1.657e-05 0 0 0 0 3.014e-05 0 0 rs762655763 14.20 D D D D D D L T D 0.902 T T D 0.569 0.748 0.727 1.050 T T D D D D 4.513 32 0.999 D D 0.703 7.166 0.729 8.332 1.000 0.635 0.634 0.644 0.655 . 5.420 5.420 7.920 1.083 0.676 1.000 0.993 0.899 862 GPCR,_rhodopsin-like,_7TM . . . GPR153 153 1 214 18 0.0775862068965517 TRUE NA ENSG00000215788.10 . BCM GRCh38.p13 chr1 6461558 6461558 + T T G Missense_Mutation SNP ENST00000356876.7 exon10 c.A1130C p.E377A exonic ENSG00000215788.10 . nonsynonymous SNV ENSG00000215788.10:ENST00000356876.7:exon10:c.A1130C:p.E377A 1p36.31 C3L-03123 . . . . . . . . . 18.20 D D D D U D L D D 0.588 D D D 0.664 0.556 0.973 2.433 D D D D D D 4.476 32 0.995 D D 0.553 5.475 0.570 5.867 1.000 0.672 0.547 0.723 0.711 . 5.250 5.250 6.204 1.138 0.665 1.000 1.000 0.998 834 Death_domain . . . TNFRSF25 409 0 484 54 0.100371747211896 TRUE TRUE ENSG00000130940.15 . BCM GRCh38.p13 chr1 10655693 10655693 + C C T Missense_Mutation SNP ENST00000377022.8 exon9 c.G1621A p.G541S exonic ENSG00000130940.15 . nonsynonymous SNV ENSG00000130940.15:ENST00000377022.8:exon9:c.G1621A:p.G541S 1p36.22 C3L-03123 . . . . . . . . rs376189072 15.19 D D D D D D L . D 0.787 T T D 0.294 . 0.415 . T D D D D D 3.441 24.500 0.999 D D 0.576 5.690 0.562 5.778 1.000 0.696 0.634 0.723 0.605 . 4.320 4.320 5.641 1.026 0.599 1.000 0.977 0.993 792 . . . . CASZ1 282 0 345 38 0.0992167101827676 TRUE NA ENSG00000204624.8 . BCM GRCh38.p13 chr1 11516084 11516084 + G G A Missense_Mutation SNP ENST00000294484.7 exon6 c.G1672A p.V558I exonic ENSG00000204624.8 . nonsynonymous SNV ENSG00000204624.8:ENST00000294484.7:exon6:c.G1672A:p.V558I 1p36.22 C3L-03123 4.976e-05 0 0 0 0 7.503e-05 0 6.061e-05 rs374554491 2.19 T T B B N N . D N 0.075 T T D 0.225 . 0.276 0.301 T T T T T T 1.324 14.560 0.368 N N -0.693 0.824 -0.470 1.252 0.975 0.646 0.588 0.645 0.568 . 5.260 4.140 1.888 0.288 -0.116 0.994 0.958 0.985 837 Sterol-sensing_domain . . ID=COSV53819941;OCCURENCE=2(large_intestine),1(biliary_tract),1(stomach),2(lung) DISP3 270 0 348 43 0.10997442455243 TRUE TRUE ENSG00000116688.17 . BCM GRCh38.p13 chr1 12005821 12005821 + G G A Missense_Mutation SNP ENST00000235329.10 exon15 c.G1606A p.D536N exonic ENSG00000116688.17 . nonsynonymous SNV ENSG00000116688.17:ENST00000235329.10:exon15:c.G1606A:p.D536N 1p36.22 C3L-03123 . . . . . . . . . 12.20 T T D P D D M T D 0.855 T T D 0.529 0.813 0.771 0.777 D D T T D D 4.358 30 0.999 D D 0.769 8.202 0.763 9.123 1.000 0.731 0.750 0.725 0.714 . 4.970 4.970 9.602 1.176 0.676 1.000 0.999 0.989 774 . . . . MFN2 774 0 830 83 0.0909090909090909 TRUE TRUE ENSG00000116809.11 . BCM GRCh38.p13 chr1 15948357 15948357 + C C T Missense_Mutation SNP ENST00000375743.8 exon3 c.G139A p.E47K exonic ENSG00000116809.11 . nonsynonymous SNV ENSG00000116809.11:ENST00000375743.8:exon3:c.G139A:p.E47K 1p36.13 C3L-03123 8.256e-06 0 0 0 0 0 0 6.056e-05 rs753476579 5.20 D T P B D D N T N 0.532 T T T 0.123 0.678 0.180 1.195 T T T T D T 2.655 22.700 0.999 D N 0.300 3.778 0.393 4.310 1.000 0.742 0.602 0.775 0.711 . 5.300 5.300 2.055 1.026 0.599 0.983 1.000 0.998 410 BTB/POZ_domain . . . ZBTB17 709 0 698 87 0.110828025477707 TRUE NA ENSG00000117115.13 . BCM GRCh38.p13 chr1 17075812 17075812 + C C T Missense_Mutation SNP ENST00000375486.9 exon12 c.G1322A p.R441Q exonic ENSG00000117115.13 . nonsynonymous SNV ENSG00000117115.13:ENST00000375486.9:exon12:c.G1322A:p.R441Q 1p36.13 C3L-03123 0.0001 0.0003 0 0 0.0011 4.496e-05 0.0011 6.056e-05 rs201295732 10.20 D T D D D D M T D 0.585 T T T 0.261 0.867 0.600 0.809 T T T T T D 3.649 25.200 0.999 D D 0.443 4.619 0.362 4.098 1.000 0.653 0.611 0.597 0.584 . 4.110 4.110 4.507 1.026 0.599 1.000 0.325 0.422 830 Protein-arginine_deiminase,_C-terminal . . . PADI2 376 0 472 59 0.111111111111111 TRUE NA ENSG00000244038.10 . BCM GRCh38.p13 chr1 20652647 20652647 + A A G Missense_Mutation SNP ENST00000415136.6 exon10 c.T1195C p.Y399H exonic ENSG00000244038.10 . nonsynonymous SNV ENSG00000244038.10:ENST00000415136.6:exon10:c.T1195C:p.Y399H 1p36.12 C3L-03123 . . . . . . . . . 18.20 D D D P D D M T D 0.917 D D D 0.881 0.852 0.933 0.825 D D D D D D 4.339 29.900 0.999 D D 0.824 9.267 0.805 10.276 1.000 0.707 0.698 0.725 0.714 . 5.650 5.650 9.290 1.312 0.756 1.000 0.996 0.995 751 . . . . DDOST 388 0 451 68 0.13102119460501 TRUE TRUE ENSG00000142798.20 . BCM GRCh38.p13 chr1 21828396 21828396 + T T C Missense_Mutation SNP ENST00000374695.8 exon89 c.A12268G p.T4090A exonic ENSG00000142798.20 . nonsynonymous SNV ENSG00000142798.20:ENST00000374695.8:exon89:c.A12268G:p.T4090A 1p36.12 C3L-03123 . . . . . . . . . 6.20 T D P P N D N T N 0.255 T T D 0.248 0.366 0.600 0.549 T T T T D T 3.516 24.800 0.996 D D 0.076 2.794 0.166 3.020 0.069 0.707 0.634 0.725 0.711 . 4.410 4.410 4.573 1.138 0.665 1.000 1.000 0.989 861 Laminin_G_domain . . . HSPG2 352 0 450 52 0.103585657370518 TRUE TRUE ENSG00000126698.11 . BCM GRCh38.p13 chr1 28203776 28203776 + G G A Missense_Mutation SNP ENST00000263697.6 exon8 c.C610T p.R204W exonic ENSG00000126698.11 . nonsynonymous SNV ENSG00000126698.11:ENST00000263697.6:exon8:c.C610T:p.R204W 1p35.3 C3L-03123 2.485e-05 0 0 0 0 2.997e-05 0 6.057e-05 rs770285519 12.19 T T D P D D M T D 0.543 T T D 0.343 0.214 0.753 1.510 D T D D D . 3.486 24.700 0.999 D D 0.583 5.758 0.561 5.764 0.030 0.707 0.725 0.725 0.714 . 4.890 3.840 3.870 -0.127 -0.112 1.000 0.996 0.995 546 . . . . DNAJC8 413 1 454 39 0.0791075050709939 TRUE NA ENSG00000121904.17 . BCM GRCh38.p13 chr1 33724555 33724555 + G G A Missense_Mutation SNP ENST00000373388.6 exon18 c.C2725T p.P909S exonic ENSG00000121904.17 . nonsynonymous SNV ENSG00000121904.17:ENST00000373388.6:exon18:c.C2725T:p.P909S 1p35.1 C3L-03123 . . . . . . . . . 8.20 T T P P D D N T N 0.793 T T T 0.296 0.347 0.567 . T T D D D D 2.973 23.400 0.998 D D 0.164 3.146 0.354 4.045 1.000 0.696 0.616 0.692 0.564 . 5.740 5.740 6.771 1.176 0.676 1.000 0.998 0.984 513 Sushi/SCR/CCP_domain . . . CSMD2 203 0 242 42 0.147887323943662 TRUE TRUE ENSG00000134698.11 . BCM GRCh38.p13 chr1 35816915 35816915 + G G A Missense_Mutation SNP ENST00000373210.4 exon2 c.G53A p.R18H exonic ENSG00000134698.11 . nonsynonymous SNV ENSG00000134698.11:ENST00000373210.4:exon2:c.G53A:p.R18H 1p34.3 C3L-03123 1.648e-05 0 8.637e-05 0 0 0 0 6.057e-05 rs759153717 16.20 D D D D D D H T D 0.831 T T D 0.564 0.509 0.701 2.072 D D T D D D 4.281 29.400 1.000 D D 1.061 15.985 0.983 17.834 1.000 0.615 0.634 0.537 0.655 . 5.350 5.350 9.941 1.176 0.676 1.000 1.000 0.999 160 . . . ID=COSV64617690;OCCURENCE=1(liver),1(endometrium) AGO4 204 1 242 44 0.153846153846154 TRUE TRUE ENSG00000171812.13 . BCM GRCh38.p13 chr1 36099400 36099400 + G G - Frame_Shift_Del DEL ENST00000397799.2 exon4 c.281delC p.P94Lfs*143 exonic ENSG00000171812.13 . frameshift deletion ENSG00000171812.13:ENST00000397799.2:exon4:c.281delC:p.P94Lfs*143 1p34.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL8A2 204 0 254 18 0.0661764705882353 NA TRUE ENSG00000142694.6 . BCM GRCh38.p13 chr1 36322318 36322318 + G G T Missense_Mutation SNP ENST00000270824.1 exon3 c.C475A p.L159M exonic ENSG00000142694.6 . nonsynonymous SNV ENSG00000142694.6:ENST00000270824.1:exon3:c.C475A:p.L159M 1p34.3 C3L-03123 . . . . . . . . . 2.19 D D B B N N L . N 0.267 T T T 0.054 0.139 0.123 1.414 T T T T T T 2.115 20.200 0.992 N N -0.225 1.807 -0.149 1.913 1.000 0.726 0.644 0.594 0.639 . 5.010 0.733 1.511 1.101 0.590 0.985 0.549 0.275 145 . . . . EVA1B 227 0 292 34 0.104294478527607 TRUE TRUE ENSG00000117408.11 . BCM GRCh38.p13 chr1 43956922 43956922 + A A G Missense_Mutation SNP ENST00000372343.8 exon5 c.A1217G p.D406G exonic ENSG00000117408.11 . nonsynonymous SNV ENSG00000117408.11:ENST00000372343.8:exon5:c.A1217G:p.D406G 1p34.1 C3L-03123 . . . . . . . . . 14.20 D D P B D D L T D 0.754 T T D 0.471 0.606 0.862 1.555 D D D D D D 3.791 25.800 0.998 D D 0.413 4.427 0.545 5.594 1.000 0.706 0.710 0.725 0.714 . 6.030 6.030 9.049 1.290 0.731 1.000 1.000 1.000 310 . . . . IPO13 369 0 425 49 0.10337552742616 TRUE TRUE ENSG00000116205.14 . BCM GRCh38.p13 chr1 54096367 54096367 + C C T Missense_Mutation SNP ENST00000234827.6 exon5 c.C521T p.T174M exonic ENSG00000116205.14 . nonsynonymous SNV ENSG00000116205.14:ENST00000234827.6:exon5:c.C521T:p.T174M 1p32.3 C3L-03123 8.252e-06 0 0 0 0 0 0.0011 0 rs764470272 7.20 D T D B D D L T N 0.299 T T T 0.167 0.638 0.257 0.311 T T T T D D 2.283 21.500 0.989 D N 0.311 3.839 0.391 4.298 1.000 0.653 0.654 0.659 0.669 . 5.340 5.340 2.443 0.126 0.599 0.977 1.000 1.000 826 Transcription_elongation_factor_S-II,_central_domain . . . TCEANC2 217 0 235 30 0.113207547169811 TRUE NA ENSG00000132849.20 . BCM GRCh38.p13 chr1 62084524 62084524 + A A G Missense_Mutation SNP ENST00000371158.6 exon33 c.A4253G p.Q1418R exonic ENSG00000132849.20 . nonsynonymous SNV ENSG00000132849.20:ENST00000371158.6:exon33:c.A4253G:p.Q1418R 1p31.3 C3L-03123 . . . . . . . . . 4.20 T T B B N N M T N 0.212 T T T 0.074 0.527 0.487 0.155 T T T T D T 2.525 22.500 0.996 D D -0.165 1.976 -0.025 2.276 0.990 0.706 0.588 0.710 0.568 . 5.020 3.800 3.200 1.312 0.756 0.996 0.970 0.896 951 . . . . PATJ 158 0 202 18 0.0818181818181818 TRUE TRUE ENSG00000187140.6 . BCM GRCh38.p13 chr1 63323312 63323312 + C C T Missense_Mutation SNP ENST00000371116.4 exon1 c.C254T p.A85V exonic ENSG00000187140.6 . nonsynonymous SNV ENSG00000187140.6:ENST00000371116.4:exon1:c.C254T:p.A85V 1p31.3 C3L-03123 . . . . . . . . . 5.20 T T D B N N N D N 0.037 T T D 0.220 0.224 0.659 . D T T T D T 1.473 15.560 0.997 N N -0.537 1.104 -0.568 1.095 1.000 0.726 0.596 0.594 0.555 . 2.860 1.950 0.161 0.853 0.366 0.256 0.931 0.733 526 . . . . FOXD3 110 0 122 12 0.0895522388059701 TRUE TRUE ENSG00000122482.21 . BCM GRCh38.p13 chr1 90937506 90937506 + T T - Frame_Shift_Del DEL ENST00000337393.10 exon4 c.3667delA p.M1223Wfs*3 exonic ENSG00000122482.21 . frameshift deletion ENSG00000122482.21:ENST00000337393.10:exon4:c.3667delA:p.M1223Wfs*3 1p22.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF644 339 1 344 38 0.0994764397905759 TRUE TRUE ENSG00000189195.14 . BCM GRCh38.p13 chr1 92177525 92177525 + A A G Missense_Mutation SNP ENST00000637221.2 exon3 c.A793G p.S265G exonic ENSG00000189195.14 . nonsynonymous SNV ENSG00000189195.14:ENST00000637221.2:exon3:c.A793G:p.S265G 1p22.1 C3L-03123 . . . . . . . . . 0.13 . . . . N N . . . . T T T 0.041 0.151 0.014 . T T T T T T 0.480 6.294 0.869 N N -1.099 0.307 -1.135 0.341 0.000 0.554 0.588 0.547 0.621 . 5.470 -1.980 0.676 0.190 -0.050 0.007 0.277 0.739 734 . . . . BTBD8 70 0 73 4 0.051948051948052 TRUE NA ENSG00000198691.13 . BCM GRCh38.p13 chr1 94025039 94025039 + G G A Missense_Mutation SNP ENST00000370225.4 exon31 c.C4549T p.R1517C exonic ENSG00000198691.13 . nonsynonymous SNV ENSG00000198691.13:ENST00000370225.4:exon31:c.C4549T:p.R1517C 1p22.1 C3L-03123 . . . . . . . . rs1800550 8.20 T T P B N D L D N 0.626 T D D 0.415 0.399 0.913 0.282 T D T T D D 2.661 22.800 0.999 D N 0.167 3.162 0.181 3.092 1.000 0.554 0.590 0.547 0.568 . 5.090 4.160 0.932 1.176 0.676 0.628 0.992 0.709 531 . . . ID=COSV64676804;OCCURENCE=1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(small_intestine) ABCA4 534 0 586 63 0.0970724191063174 TRUE TRUE ENSG00000159164.10 . BCM GRCh38.p13 chr1 149908114 149908114 + C C T Missense_Mutation SNP ENST00000369146.8 exon9 c.G1472A p.R491H exonic ENSG00000159164.10 . nonsynonymous SNV ENSG00000159164.10:ENST00000369146.8:exon9:c.G1472A:p.R491H 1q21.2 C3L-03123 0.0001 0 0 0 0 0.0003 0 0 rs199799449 1.20 T T B B N N L T N 0.243 T T T 0.071 . 0.268 0.527 T T T T T D 1.530 15.930 0.957 N N -0.505 1.167 -0.378 1.413 1.000 0.706 0.710 0.725 0.595 . 5.260 4.350 -0.001 1.026 0.599 0.000 0.974 0.955 188 Major_facilitator_superfamily_domain . . . SV2A 237 0 277 32 0.103559870550162 TRUE NA ENSG00000213171.3 . BCM GRCh38.p13 chr1 151802596 151802596 + A A G Missense_Mutation SNP ENST00000368820.4 exon2 c.T109C p.C37R exonic ENSG00000213171.3 . nonsynonymous SNV ENSG00000213171.3:ENST00000368820.4:exon2:c.T109C:p.C37R 1q21.3 C3L-03123 . . . . . . . . . 18.20 D D D D D D M D D 0.907 D D D 0.852 0.893 0.951 0.657 T D D D D T 4.014 27.100 0.996 D D 0.832 9.439 0.762 9.098 1.000 0.447 0.563 0.547 0.530 . 5.510 5.510 9.320 1.312 0.756 1.000 0.997 0.973 534 Leucine-rich_repeat_N-terminal_domain . . . LINGO4 127 0 143 8 0.0529801324503311 TRUE NA ENSG00000225556.1 . BCM GRCh38.p13 chr1 151838328 151838328 + A A G Missense_Mutation SNP ENST00000454109.1 exon2 c.T662C p.L221P exonic ENSG00000225556.1 . nonsynonymous SNV ENSG00000225556.1:ENST00000454109.1:exon2:c.T662C:p.L221P 1q21.3 C3L-03123 . . . . . . . . . 14.19 D D D D . D M T D 0.796 T T D 0.426 0.394 0.446 . D T D D D T 4.315 29.700 0.998 D D 0.516 5.164 0.381 4.226 1.000 0.564 0.552 0.608 0.555 . 3.230 3.230 7.745 1.086 0.552 1.000 0.995 0.973 580 . . . . C2CD4D 245 0 206 25 0.108225108225108 TRUE TRUE ENSG00000197915.7 . BCM GRCh38.p13 chr1 152219618 152219618 + G G A Missense_Mutation SNP ENST00000368801.4 exon3 c.C2011T p.H671Y exonic ENSG00000197915.7 . nonsynonymous SNV ENSG00000197915.7:ENST00000368801.4:exon3:c.C2011T:p.H671Y 1q21.3 C3L-03123 . . . . . . . . . 2.19 D D B B . N L T N 0.170 T T T 0.044 0.361 0.331 . T T T T T T 0.751 8.918 0.582 N N -1.350 0.139 -1.440 0.132 0.000 0.487 0.547 0.574 0.564 . 3.220 -1.620 -0.211 -0.566 -0.339 0.000 0.000 0.000 570 . . . . HRNR 1076 0 1150 101 0.0807354116706635 NA TRUE ENSG00000197915.7 . BCM GRCh38.p13 chr1 152219663 152219663 + A A T Missense_Mutation SNP ENST00000368801.4 exon3 c.T1966A p.S656T exonic ENSG00000197915.7 . nonsynonymous SNV ENSG00000197915.7:ENST00000368801.4:exon3:c.T1966A:p.S656T 1q21.3 C3L-03123 . . . . . . . . . 1.19 T T P B . N M T N 0.103 T T T 0.031 0.267 0.433 . T T T T T T 0.834 9.732 0.556 N N -0.683 0.842 -0.805 0.751 0.000 0.487 0.547 0.574 0.564 . 4.050 1.380 0.593 0.968 0.554 0.000 0.001 0.001 570 . . . . HRNR 1554 0 1682 105 0.0587576944599888 NA TRUE ENSG00000143578.16 . BCM GRCh38.p13 chr1 153969153 153969153 + T T C Missense_Mutation SNP ENST00000368607.8 exon3 c.T398C p.V133A exonic ENSG00000143578.16 . nonsynonymous SNV ENSG00000143578.16:ENST00000368607.8:exon3:c.T398C:p.V133A 1q21.3 C3L-03123 . . . . . . . . . 3.20 T T B B N D M T N 0.117 T T T 0.055 0.284 0.391 0.039 T T T T T T 1.760 17.450 0.788 D N -0.301 1.612 -0.243 1.686 1.000 0.660 0.663 0.686 0.568 . 4.800 4.800 0.720 1.055 0.665 0.682 0.201 0.219 75 . . . . CREB3L4 404 0 432 65 0.130784708249497 TRUE TRUE ENSG00000143549.21 . BCM GRCh38.p13 chr1 154191992 154191992 + C C T Missense_Mutation SNP ENST00000651641.1 exon1 c.G27A p.M9I exonic ENSG00000143549.21 . nonsynonymous SNV ENSG00000143549.21:ENST00000651641.1:exon1:c.G27A:p.M9I 1q21.3 C3L-03123 . . . . . . . . . 17.18 D T . . D D M D D 0.757 D D D 0.850 . 0.970 2.373 D D D D D D 3.944 26.600 0.997 D D 0.943 12.220 0.907 14.041 1.000 0.495 0.627 0.537 0.751 . 5.750 5.750 7.905 1.026 0.599 1.000 1.000 0.998 76 . . . . TPM3 775 0 822 86 0.0947136563876652 TRUE TRUE ENSG00000163462.18 . BCM GRCh38.p13 chr1 155175476 155175476 + G G A Missense_Mutation SNP ENST00000334634.9 exon2 c.G154A p.V52M exonic ENSG00000163462.18 . nonsynonymous SNV ENSG00000163462.18:ENST00000334634.9:exon2:c.G154A:p.V52M 1q22 C3L-03123 . . . . . . . . rs907670977 15.20 D D D D D D L D N 0.681 D D D 0.668 0.684 0.480 1.803 T T D D D D 3.731 25.500 0.999 D N 0.660 6.600 0.595 6.159 1.000 0.726 0.588 0.594 0.555 . 4.530 4.530 2.603 1.176 0.676 0.998 1.000 0.998 70 Zinc_finger,_RING-type;RING-type_zinc-finger,_LisH_dimerisation_motif;Zinc_finger,_RING-type,_conserved_site . . . TRIM46 322 1 438 40 0.0836820083682008 TRUE NA ENSG00000160752.14 . BCM GRCh38.p13 chr1 155312363 155312363 + C C T Missense_Mutation SNP ENST00000356657.10 exon4 c.C448T p.R150W exonic ENSG00000160752.14 . nonsynonymous SNV ENSG00000160752.14:ENST00000356657.10:exon4:c.C448T:p.R150W 1q22 C3L-03123 . . . . . . . . . 5.20 T T B B N D N T D 0.531 T T T 0.326 0.689 0.800 0.333 T D T T T T 2.577 22.600 0.997 D D -0.294 1.629 -0.201 1.782 1.000 0.722 0.686 0.702 0.735 . 4.790 1.570 0.700 1.005 0.596 0.944 0.998 0.977 40 . . . ID=COSV100756081;OCCURENCE=1(cervix) FDPS 316 0 359 46 0.11358024691358 TRUE NA ENSG00000254726.3 . BCM GRCh38.p13 chr1 156077124 156077124 + C C T Missense_Mutation SNP ENST00000532414.3 exon2 c.G1013A p.S338N exonic ENSG00000254726.3 . nonsynonymous SNV ENSG00000254726.3:ENST00000532414.3:exon2:c.G1013A:p.S338N 1q22 C3L-03123 . . . . . . . . . 6.20 T T P P D D L T N 0.345 T T T 0.148 0.441 0.093 1.272 D T T T D T 3.524 24.800 0.993 D D 0.415 4.437 0.470 4.896 1.000 0.731 0.552 0.750 0.662 . 5.190 5.190 5.593 1.022 0.545 1.000 1.000 0.996 337 . . . . MEX3A 483 0 555 73 0.116242038216561 TRUE TRUE ENSG00000196189.13 . BCM GRCh38.p13 chr1 156172928 156172928 + G G A Missense_Mutation SNP ENST00000368285.8 exon11 c.G1237A p.V413M exonic ENSG00000196189.13 . nonsynonymous SNV ENSG00000196189.13:ENST00000368285.8:exon11:c.G1237A:p.V413M 1q22 C3L-03123 1.647e-05 9.612e-05 0 0 0.0002 0 0 0 rs764520336 10.20 D D D D N D M T N 0.601 T T T 0.231 0.613 0.443 0.674 T T T T D D 3.946 26.600 0.999 D D 0.764 8.123 0.691 7.588 1.000 0.778 0.702 0.854 0.639 . 5.230 5.230 5.515 1.083 0.676 1.000 0.984 0.492 481 Sema_domain . . ID=COSV61771873;OCCURENCE=1(endometrium) SEMA4A 592 0 663 87 0.116 TRUE TRUE ENSG00000158859.10 . BCM GRCh38.p13 chr1 161196846 161196846 + A A G Missense_Mutation SNP ENST00000367996.6 exon2 c.T668C p.L223P exonic ENSG00000158859.10 . nonsynonymous SNV ENSG00000158859.10:ENST00000367996.6:exon2:c.T668C:p.L223P 1q23.3 C3L-03123 . . . . . . . . . 19.20 D D D D D D M D D 0.936 D D D 0.943 0.814 0.985 1.260 T D D D D D 4.310 29.700 0.999 D D 0.883 10.626 0.790 9.842 1.000 0.545 0.547 0.602 0.628 . 4.640 4.640 9.277 1.303 0.751 1.000 0.859 0.966 404 Peptidase_M12B,_ADAM/reprolysin . . . ADAMTS4 175 0 232 36 0.134328358208955 TRUE TRUE ENSG00000076258.10 . BCM GRCh38.p13 chr1 171332830 171332830 + G G A Missense_Mutation SNP ENST00000367749.4 exon7 c.G749A p.R250H exonic ENSG00000076258.10 . nonsynonymous SNV ENSG00000076258.10:ENST00000367749.4:exon7:c.G749A:p.R250H 1q24.3 C3L-03123 8.253e-06 0 8.688e-05 0 0 0 0 0 rs770794489 0.20 T T P P N N L T N 0.121 T T T 0.173 0.477 0.735 0.193 T T T T T T 1.750 17.370 0.387 N N -0.188 1.911 -0.347 1.470 0.000 0.554 0.588 0.618 0.564 . 5.630 3.560 1.593 1.176 0.671 0.008 0.170 0.029 804 . . . . FMO4 444 1 384 40 0.0943396226415094 TRUE NA ENSG00000116183.11 . BCM GRCh38.p13 chr1 176556758 176556758 + G G A Missense_Mutation SNP ENST00000367662.5 exon2 c.G436A p.A146T exonic ENSG00000116183.11 . nonsynonymous SNV ENSG00000116183.11:ENST00000367662.5:exon2:c.G436A:p.A146T 1q25.2 C3L-03123 . . . . . . . . . 0.20 T T B B N N N T N 0.032 T T T 0.052 0.503 0.163 0.165 T T T T T T 0.804 9.434 0.424 N N -1.089 0.316 -0.825 0.724 0.027 0.487 0.590 0.547 0.564 . 4.630 2.200 2.056 0.308 -0.063 1.000 0.996 0.881 721 . . . ID=COSV100866822;OCCURENCE=1(central_nervous_system) PAPPA2 262 0 306 40 0.115606936416185 TRUE NA ENSG00000163395.17 . BCM GRCh38.p13 chr1 201222816 201222816 + G G A Missense_Mutation SNP ENST00000295591.12 exon21 c.G2908A p.V970I exonic ENSG00000163395.17 . nonsynonymous SNV ENSG00000163395.17:ENST00000295591.12:exon21:c.G2908A:p.V970I 1q32.1 C3L-03123 0.0005 0.0050 0.0003 0 0 1.536e-05 0 6.433e-05 rs114765060 1.18 T T . . N N N T N 0.133 T T D 0.050 . 0.107 . T T T T T T 0.277 4.024 0.692 N N -1.458 0.095 -1.493 0.110 1.000 0.526 0.600 0.596 0.584 . 4.030 -0.173 0.487 -4.626 -1.733 0.024 0.000 0.008 917 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV55184728;OCCURENCE=1(skin) IGFN1 87 0 112 15 0.118110236220472 TRUE TRUE ENSG00000143847.15 . BCM GRCh38.p13 chr1 203075694 203075694 + C C T Missense_Mutation SNP ENST00000447715.6 exon34 c.C3445T p.R1149C exonic ENSG00000143847.15 . nonsynonymous SNV ENSG00000143847.15:ENST00000447715.6:exon34:c.C3445T:p.R1149C 1q32.1 C3L-03123 . . . . . . . . . 11.20 D D P B U D M T D 0.819 T T D 0.167 - 0.462 0.898 D T T T D D 3.833 26.000 0.999 D D 0.105 2.906 0.151 2.952 1.000 0.652 0.383 0.641 0.639 . 4.990 3.080 4.356 1.026 0.597 1.000 0.997 0.994 808 . . . . PPFIA4 51 0 73 12 0.141176470588235 TRUE TRUE ENSG00000133063.16 . BCM GRCh38.p13 chr1 203216980 203216980 + A A G Missense_Mutation SNP ENST00000367229.6 exon11 c.T1310C p.F437S exonic ENSG00000133063.16 . nonsynonymous SNV ENSG00000133063.16:ENST00000367229.6:exon11:c.T1310C:p.F437S 1q32.1 C3L-03123 . . . . . . . . . 6.20 D D P P N N M T D 0.523 T T D 0.252 0.855 0.502 0.592 T T T T D T 1.758 17.430 0.995 N N -0.160 1.991 -0.457 1.272 1.000 0.497 0.547 0.608 0.542 . 4.950 -6.020 -0.247 -0.242 -0.103 0.617 0.883 0.791 878 Chitin_binding_domain . . . CHIT1 250 0 297 35 0.105421686746988 TRUE TRUE ENSG00000198049.7 . BCM GRCh38.p13 chr1 206116035 206116035 + T T C Missense_Mutation SNP ENST00000367126.5 exon1 c.A856G p.I286V exonic ENSG00000198049.7 . nonsynonymous SNV ENSG00000198049.7:ENST00000367126.5:exon1:c.A856G:p.I286V 1q32.1 C3L-03123 . . . . . . . . . 2.7 T T . . . . . T N 0.679 . . . . . . . . T . . . D 3.267 24.000 . . D . . . . . . . . . . . . 8.017 1.138 0.665 1.000 0.989 0.979 934 GPCR,_rhodopsin-like,_7TM . . . AVPR1B 207 0 249 25 0.0912408759124088 TRUE TRUE ENSG00000170745.12 . BCM GRCh38.p13 chr2 17931070 17931070 + - NA G Frame_Shift_Ins NA ENST00000304101.9 exon3 c.63dupG p.F24Lfs*2 exonic ENSG00000170745.12 . frameshift insertion ENSG00000170745.12:ENST00000304101.9:exon3:c.63dupG:p.F24Lfs*2 2p24.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KCNS3 NA NA NA NA NA NA NA ENSG00000119777.20 . BCM GRCh38.p13 chr2 27035214 27035214 + A A G Missense_Mutation SNP ENST00000238788.14 exon3 c.A431G p.D144G exonic ENSG00000119777.20 . nonsynonymous SNV ENSG00000119777.20:ENST00000238788.14:exon3:c.A431G:p.D144G 2p23.3 C3L-03123 . . . . . . . . . 18.20 D D D D D D M D D 0.916 D D D 0.759 0.339 0.817 0.560 T T D D D D 4.413 31 0.999 D D 0.787 8.535 0.781 9.583 1.000 0.732 0.672 0.744 0.714 . 5.670 5.670 8.495 1.308 0.756 1.000 1.000 0.999 444 . . . . TMEM214 337 0 350 86 0.197247706422018 TRUE TRUE ENSG00000075426.12 . BCM GRCh38.p13 chr2 28411954 28411954 + A A T Nonsense_Mutation SNP ENST00000264716.9 exon4 c.A487T p.K163X exonic ENSG00000075426.12 . stopgain ENSG00000075426.12:ENST00000264716.9:exon4:c.A487T:p.K163X 2p23.2 C3L-03123 . . . . . . . . . 5.6 . . . . D D . . . 0.712 . . . . . . . . . D D . . 7.777 39 0.996 D N 0.845 9.734 0.697 7.700 1.000 0.672 0.588 0.659 0.711 . 4.310 4.310 7.431 1.207 0.756 1.000 1.000 0.999 453 Basic-leucine_zipper_domain . . . FOSL2 390 0 409 110 0.211946050096339 TRUE TRUE ENSG00000158125.10 . BCM GRCh38.p13 chr2 31350198 31350198 + A A G Missense_Mutation SNP ENST00000379416.4 exon25 c.T2657C p.M886T exonic ENSG00000158125.10 . nonsynonymous SNV ENSG00000158125.10:ENST00000379416.4:exon25:c.T2657C:p.M886T 2p23.1 C3L-03123 . . . . . . . . . 9.20 T T B B D D L T N 0.773 T T D 0.408 0.475 0.745 0.102 T T D D D D 2.715 22.900 0.626 D D -0.055 2.320 0.022 2.435 1.000 0.554 0.590 0.602 0.564 . 5.850 4.680 9.276 1.298 0.740 1.000 1.000 0.998 940 Aldehyde_oxidase/xanthine_dehydrogenase,_molybdopterin_binding . . . XDH 631 0 722 74 0.092964824120603 TRUE TRUE ENSG00000008869.12 . BCM GRCh38.p13 chr2 37060617 37060617 + G G A Nonsense_Mutation SNP ENST00000233099.6 exon12 c.C1813T p.Q605X exonic ENSG00000008869.12 . stopgain ENSG00000008869.12:ENST00000233099.6:exon12:c.C1813T:p.Q605X 2p22.2 C3L-03123 . . . . . . . . . 5.6 . . . . D A . . . 0.359 . . . . . . . . . D D . . 9.275 48 0.999 D N 1.162 20.805 1.013 19.686 1.000 0.707 0.614 0.659 0.714 . 5.010 5.010 9.814 1.176 0.676 1.000 1.000 0.995 595 . . . . HEATR5B 189 0 219 72 0.247422680412371 TRUE TRUE ENSG00000214595.12 . BCM GRCh38.p13 chr2 54959120 54959120 + C C T Missense_Mutation SNP ENST00000356458.7 exon34 c.C4712T p.T1571M exonic ENSG00000214595.12 . nonsynonymous SNV ENSG00000214595.12:ENST00000356458.7:exon34:c.C4712T:p.T1571M 2p16.1 C3L-03123 . . . . . . . . rs925445892 14.20 D D D D D D H T D 0.678 T T D 0.393 . 0.501 0.687 D T T T D D 3.837 26.000 0.999 D D 0.826 9.312 0.793 9.933 1.000 0.554 0.547 0.602 0.613 . 5.780 5.780 4.658 1.026 0.599 1.000 1.000 1.000 543 . . . ID=COSV62864133;OCCURENCE=1(large_intestine) EML6 136 0 168 25 0.129533678756477 TRUE TRUE ENSG00000138035.15 . BCM GRCh38.p13 chr2 55646279 55646279 + T T C Missense_Mutation SNP ENST00000447944.7 exon21 c.A1718G p.E573G exonic ENSG00000138035.15 . nonsynonymous SNV ENSG00000138035.15:ENST00000447944.7:exon21:c.A1718G:p.E573G 2p16.1 C3L-03123 . . . . . . . . . 14.19 D D D D D D M T D 0.885 T T D 0.475 0.469 0.525 0.605 T T D D D . 4.844 33 0.999 D D 0.648 6.450 0.622 6.505 1.000 0.732 0.744 0.651 0.728 . 4.970 4.970 7.731 1.138 0.665 1.000 0.995 0.856 356 . . . ID=COSV53177581;OCCURENCE=1(large_intestine) PNPT1 265 0 267 66 0.198198198198198 TRUE TRUE ENSG00000143971.9 . BCM GRCh38.p13 chr2 67404283 67404283 + A A T Missense_Mutation SNP ENST00000272342.6 exon5 c.A1601T p.N534I exonic ENSG00000143971.9 . nonsynonymous SNV ENSG00000143971.9:ENST00000272342.6:exon5:c.A1601T:p.N534I 2p14 C3L-03123 . . . . . . . . . 3.20 T T P P N N M T D 0.158 T T T 0.074 0.174 0.117 0.229 T T T T D T 1.455 15.450 0.971 N N -0.636 0.923 -0.795 0.765 0.990 0.732 0.744 0.609 0.636 . 5.760 -0.728 0.077 -0.128 -0.070 0.000 0.016 0.244 948 . . . . ETAA1 121 0 104 27 0.206106870229008 TRUE TRUE ENSG00000163235.16 . BCM GRCh38.p13 chr2 70456463 70456463 + G G A Missense_Mutation SNP ENST00000295400.11 exon4 c.C241T p.R81C exonic ENSG00000163235.16 . nonsynonymous SNV ENSG00000163235.16:ENST00000295400.11:exon4:c.C241T:p.R81C 2p13.3 C3L-03123 . . . . . . . . . 16.20 D D D D D D M T D 0.921 T T D 0.672 0.739 0.709 0.946 T D D D D D 4.506 32 0.999 D D 0.907 11.242 0.842 11.471 1.000 0.615 0.590 0.659 0.586 . 5.530 5.530 5.767 1.176 0.676 1.000 0.816 0.990 324 EGF-like,_conserved_site;EGF-like_domain . . . TGFA 263 0 243 64 0.208469055374593 TRUE NA ENSG00000196504.18 . BCM GRCh38.p13 chr2 152676723 152676723 + G G A Missense_Mutation SNP ENST00000410080.7 exon10 c.C713T p.P238L exonic ENSG00000196504.18 . nonsynonymous SNV ENSG00000196504.18:ENST00000410080.7:exon10:c.C713T:p.P238L 2q23.3 C3L-03123 . . . . . . . . rs962275215 5.15 D T . . N D . . D . T T T 0.025 0.284 0.327 0.635 T . T T T D 2.360 21.900 0.977 D N -0.109 2.146 0.080 2.654 1.000 0.707 0.725 0.702 0.714 . 5.260 5.260 2.783 1.176 0.676 0.996 0.931 0.883 343 . . . . PRPF40A 80 0 64 15 0.189873417721519 TRUE NA ENSG00000082438.17 . BCM GRCh38.p13 chr2 164694786 164694786 + A A - Frame_Shift_Del DEL ENST00000375458.6 exon11 c.2606delT p.L869Cfs*12 exonic ENSG00000082438.17 . frameshift deletion ENSG00000082438.17:ENST00000375458.6:exon11:c.2606delT:p.L869Cfs*12 2q24.3 C3L-03123 0.0027 0.0017 0.0011 0.0022 0.0005 0.0037 0.0026 0.0015 rs772030741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COBLL1 298 12 264 103 0.280653950953678 TRUE NA ENSG00000138382.15 . BCM GRCh38.p13 chr2 169821175 169821175 + T T C Missense_Mutation SNP ENST00000260953.10 exon3 c.A323G p.D108G exonic ENSG00000138382.15 . nonsynonymous SNV ENSG00000138382.15:ENST00000260953.10:exon3:c.A323G:p.D108G 2q31.1 C3L-03123 . . . . . . . . . 17.20 D D D D D D M T D 0.800 D D D 0.556 0.816 0.898 0.865 T T D D D D 3.666 25.300 0.999 D D 0.557 5.512 0.569 5.861 1.000 0.732 0.710 0.744 0.613 . 5.040 5.040 6.094 1.122 0.665 1.000 1.000 0.999 814 Methyltransferase_small_domain . . . METTL5 203 0 211 44 0.172549019607843 TRUE TRUE ENSG00000188738.15 . BCM GRCh38.p13 chr2 185753836 185753836 + A A G Missense_Mutation SNP ENST00000424728.6 exon8 c.A985G p.T329A exonic ENSG00000188738.15 . nonsynonymous SNV ENSG00000188738.15:ENST00000424728.6:exon8:c.A985G:p.T329A 2q32.1 C3L-03123 . . . . . . . . . 0.20 T T B B N N N T N 0.052 T T T 0.013 0.184 0.076 . T T T T T T 0.073 1.862 0.387 N N -1.146 0.268 -1.231 0.258 0.000 0.554 0.588 0.574 0.621 . 4.700 -4.160 -0.434 1.284 0.744 0.000 0.222 0.209 751 . . . . FSIP2 67 0 54 7 0.114754098360656 TRUE TRUE ENSG00000115896.16 . BCM GRCh38.p13 chr2 198085015 198085015 + C C T Nonsense_Mutation SNP ENST00000428675.6 exon2 c.C1498T p.Q500X exonic ENSG00000115896.16 . stopgain ENSG00000115896.16:ENST00000428675.6:exon2:c.C1498T:p.Q500X 2q33.1 C3L-03123 . . . . . . . . . 5.6 . . . . D A . . . 0.499 . . . . . . . . . D D . . 6.645 36 0.998 D N 1.162 20.769 1.014 19.724 1.000 0.638 0.588 0.547 0.668 . 5.940 5.940 7.895 1.026 0.599 1.000 0.894 0.754 716 Phosphatidylinositol-specific_phospholipase_C,_X_domain . . . PLCL1 144 0 176 10 0.0537634408602151 TRUE NA ENSG00000178385.15 . BCM GRCh38.p13 chr2 208001134 208001134 + T T A Missense_Mutation SNP ENST00000427836.8 exon2 c.A506T p.Q169L exonic ENSG00000178385.15 . nonsynonymous SNV ENSG00000178385.15:ENST00000427836.8:exon2:c.A506T:p.Q169L 2q33.3 C3L-03123 . . . . . . . . . 6.19 D D P B U D N D N 0.330 T T D 0.283 0.274 0.452 0.142 T T T T T . 1.837 18.000 0.957 D N -0.568 1.047 -0.489 1.220 0.999 0.651 0.654 0.602 0.684 . 5.330 2.840 2.029 0.145 -0.186 1.000 0.445 0.003 799 . . . . PLEKHM3 412 0 518 41 0.073345259391771 TRUE TRUE ENSG00000115414.20 . BCM GRCh38.p13 chr2 215383328 215383328 + C C A Missense_Mutation SNP ENST00000354785.10 exon31 c.G5050T p.D1684Y exonic ENSG00000115414.20 . nonsynonymous SNV ENSG00000115414.20:ENST00000354785.10:exon31:c.G5050T:p.D1684Y 2q35 C3L-03123 . . . . . . . . . 16.20 D D D D D D M T D 0.575 D T D 0.397 0.458 0.800 1.011 T D D T D D 5.985 35 0.994 D D 0.599 5.913 0.484 5.019 1.000 0.732 0.588 0.744 0.711 . 4.020 4.020 4.538 0.798 0.599 1.000 0.994 0.936 798 Fibronectin_type_III . . ID=COSV60548363;OCCURENCE=1(large_intestine) FN1 470 1 538 35 0.0610820244328098 TRUE TRUE ENSG00000138375.13 . BCM GRCh38.p13 chr2 216428659 216428659 + C C T Missense_Mutation SNP ENST00000357276.9 exon7 c.C1211T p.A404V exonic ENSG00000138375.13 . nonsynonymous SNV ENSG00000138375.13:ENST00000357276.9:exon7:c.C1211T:p.A404V 2q35 C3L-03123 8.236e-06 0 0 0 0 0 0 6.056e-05 rs761003078 8.20 T D P B D D M D N 0.115 T D T 0.258 0.274 0.891 0.523 T T T T D T 1.637 16.610 0.999 D N 0.130 3.006 0.270 3.547 1.000 0.707 0.725 0.725 0.714 . 6.070 6.070 3.314 1.026 0.599 0.996 0.077 0.135 844 . . . . SMARCAL1 428 0 604 58 0.0876132930513595 TRUE NA ENSG00000127831.11 . BCM GRCh38.p13 chr2 218424307 218424307 + A A G Missense_Mutation SNP ENST00000248444.10 exon3 c.A106G p.T36A exonic ENSG00000127831.11 . nonsynonymous SNV ENSG00000127831.11:ENST00000248444.10:exon3:c.A106G:p.T36A 2q35 C3L-03123 . . . . . . . . . 0.20 T T B B N N N T N 0.158 T T T 0.022 0.284 0.470 0.183 T T T T T T 1.079 12.560 0.294 N N -0.939 0.472 -0.796 0.764 0.156 0.706 0.574 0.710 0.564 . 4.380 1.760 0.261 1.312 0.691 0.001 1.000 0.978 890 Gelsolin-like_domain . . . VIL1 190 0 315 40 0.112676056338028 TRUE TRUE ENSG00000116106.12 . BCM GRCh38.p13 chr2 221563821 221563821 + T T - Frame_Shift_Del DEL ENST00000281821.7 exon3 c.733delA p.M245Cfs*89 exonic ENSG00000116106.12 . frameshift deletion ENSG00000116106.12:ENST00000281821.7:exon3:c.733delA:p.M245Cfs*89 2q36.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPHA4 373 0 459 41 0.082 TRUE TRUE ENSG00000130561.17 . BCM GRCh38.p13 chr2 233338678 233338678 + T T C Missense_Mutation SNP ENST00000409110.6 exon12 c.T947C p.I316T exonic ENSG00000130561.17 . nonsynonymous SNV ENSG00000130561.17:ENST00000409110.6:exon12:c.T947C:p.I316T 2q37.1 C3L-03123 . . . . . . . . . 5.19 D T P P N N L T D 0.318 T T T 0.162 0.644 0.475 0.177 T T T T D . 3.199 23.900 0.997 D D -0.001 2.507 0.028 2.459 1.000 0.560 0.624 0.547 0.530 . 5.380 5.380 4.959 1.138 0.665 0.780 0.994 0.999 878 Arrestin_C-terminal-like_domain . . . SAG 158 0 227 23 0.092 TRUE TRUE ENSG00000167165.19 . BCM GRCh38.p13 chr2 233772404 233772404 + T T G Missense_Mutation SNP ENST00000305139.11 exon5 c.T1444G p.W482G exonic ENSG00000167165.19;ENSG00000240224.1;ENSG00000241119.2;ENSG00000241635.8;ENSG00000242366.3;ENSG00000242515.5;ENSG00000243135.6;ENSG00000244122.2;ENSG00000244474.6 . nonsynonymous SNV ENSG00000167165.19:ENST00000305139.11:exon5:c.T1444G:p.W482G,ENSG00000241635.8:ENST00000305208.10:exon5:c.T1447G:p.W483G,ENSG00000242515.5:ENST00000344644.9:exon5:c.T1438G:p.W480G,ENSG00000241119.2:ENST00000354728.5:exon5:c.T1438G:p.W480G,ENSG00000244474.6:ENST00000373409.8:exon5:c.T1450G:p.W484G,ENSG00000240224.1:ENST00000373414.3:exon5:c.T1450G:p.W484G,ENSG00000244122.2:ENST00000373426.3:exon5:c.T1438G:p.W480G,ENSG00000242366.3:ENST00000373450.4:exon5:c.T1438G:p.W480G,ENSG00000243135.6:ENST00000482026.5:exon5:c.T1450G:p.W484G 2q37.1 C3L-03123 . . . . . . . . . 18.20 D D D D D D H T D 0.954 D D D 0.871 0.926 0.918 0.927 T D D D D D 4.275 29.400 0.982 D D 0.977 13.226 0.912 14.266 1.000 0.487 0.590 0.574 0.564 . 5.830 5.830 7.809 1.071 0.587 1.000 1.000 0.991 697 . . . . UGT1A6 565 0 647 73 0.101388888888889 TRUE TRUE ENSG00000204104.12 . BCM GRCh38.p13 chr2 238325902 238325902 + G G A Missense_Mutation SNP ENST00000373327.5 exon3 c.G286A p.V96M exonic ENSG00000204104.12 . nonsynonymous SNV ENSG00000204104.12:ENST00000373327.5:exon3:c.G286A:p.V96M 2q37.3 C3L-03123 1.648e-05 0 0 0 0 2.999e-05 0 0 rs527454385 14.20 D D D D D D M T D 0.814 T T T 0.400 0.701 0.689 0.578 T T D D D D 3.563 24.900 0.999 D D 0.697 7.076 0.601 6.239 1.000 0.706 0.709 0.710 0.684 . 4.330 3.440 7.717 1.176 0.676 1.000 0.512 0.508 912 . . . . TRAF3IP1 232 1 261 83 0.241279069767442 TRUE NA ENSG00000226321.5 . BCM GRCh38.p13 chr2 240963611 240963611 + G G A Missense_Mutation SNP ENST00000443866.2 exon21 c.G3149A p.R1050H exonic ENSG00000226321.5 . nonsynonymous SNV ENSG00000226321.5:ENST00000443866.2:exon21:c.G3149A:p.R1050H 2q37.3 C3L-03123 . . . . . . . . rs965037522 0.9 . T . . . . . . . 0.129 T T . 0.074 . 0.048 . . T T T T . 1.268 14.150 0.982 N N -0.650 0.899 -0.824 0.724 0.999 0.403 0.547 0.578 0.563 . 3.810 -1.240 -0.014 0.217 0.604 0.000 0.887 0.770 970 . . . . CROCC2 227 0 250 72 0.22360248447205 TRUE NA ENSG00000168395.16 . BCM GRCh38.p13 chr2 241709317 241709317 + G G A Missense_Mutation SNP ENST00000313552.11 exon3 c.G211A p.A71T exonic ENSG00000168395.16 . nonsynonymous SNV ENSG00000168395.16:ENST00000313552.11:exon3:c.G211A:p.A71T 2q37.3 C3L-03123 . . . . . . . . rs747667282 10.19 T T P B D D M . N 0.740 T T D 0.273 0.299 0.301 1.748 T T D D D D 2.388 22.000 0.997 D D 0.411 4.410 0.461 4.821 1.000 0.707 0.702 0.702 0.714 . 5.740 4.860 8.933 1.094 0.604 1.000 0.975 0.695 970 Inhibitor_of_growth_protein,_N-terminal_histone-binding . . . ING5 188 0 239 48 0.167247386759582 TRUE NA ENSG00000144619.15 . BCM GRCh38.p13 chr3 3026122 3026122 + C C - Frame_Shift_Del DEL ENST00000418658.6 exon15 c.1507delC p.P504Lfs*18 exonic ENSG00000144619.15 . frameshift deletion ENSG00000144619.15:ENST00000418658.6:exon15:c.1507delC:p.P504Lfs*18 3p26.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNTN4 503 0 444 38 0.0788381742738589 TRUE TRUE ENSG00000150995.19 . BCM GRCh38.p13 chr3 4665217 4665217 + G G A Missense_Mutation SNP ENST00000649015.1 exon17 c.G1634A p.R545Q exonic ENSG00000150995.19 . nonsynonymous SNV ENSG00000150995.19:ENST00000649015.1:exon17:c.G1634A:p.R545Q 3p26.1 C3L-03123 . . . . . . . . . 16.20 D T P P D D M D D 0.576 D D D 0.761 0.494 0.927 1.697 T D D D D D 4.188 28.500 0.999 D D 0.487 4.938 0.504 5.195 1.000 0.615 0.654 0.602 0.655 . 4.560 4.560 6.831 1.176 0.676 1.000 0.929 0.819 946 RIH_domain . . . ITPR1 231 0 249 32 0.113879003558719 TRUE TRUE ENSG00000163702.20 . BCM GRCh38.p13 chr3 9928379 9928379 + G G A Missense_Mutation SNP ENST00000295981.7 exon11 c.G1165A p.A389T exonic ENSG00000163702.20 . nonsynonymous SNV ENSG00000163702.20:ENST00000295981.7:exon11:c.G1165A:p.A389T 3p25.3 C3L-03123 0.0037 0.0005 0.0009 0 0.0178 0.0044 0.0023 0.0009 rs145516404 3.19 D T D D N N L T N 0.262 T T . 0.159 . 0.102 0.291 T T T T T T 2.687 22.800 0.997 N N -0.474 1.229 -0.550 1.123 0.999 0.696 0.547 0.723 0.636 . 4.840 3.950 2.774 1.176 0.676 0.362 0.004 0.007 644 Interleukin-17_receptor_C/E,_N-terminal . . . IL17RC 103 0 120 17 0.124087591240876 TRUE NA ENSG00000131386.19 . BCM GRCh38.p13 chr3 16212687 16212687 + G G A Missense_Mutation SNP ENST00000339732.10 exon6 c.G1316A p.R439H exonic ENSG00000131386.19 . nonsynonymous SNV ENSG00000131386.19:ENST00000339732.10:exon6:c.G1316A:p.R439H 3p25.1 C3L-03123 2.471e-05 0 0 0 0 2.997e-05 0 6.056e-05 rs149803620 13.20 D D D P N D H T D 0.593 D T D 0.460 . 0.658 0.246 T D T T D D 3.560 24.900 0.999 D D 0.654 6.525 0.509 5.245 0.994 0.516 0.563 0.547 0.586 . 5.380 3.530 4.426 0.049 0.590 1.000 0.917 0.935 878 . . . ID=COSV60220265;OCCURENCE=1(large_intestine) GALNT15 458 0 459 56 0.10873786407767 TRUE TRUE ENSG00000177479.19 . BCM GRCh38.p13 chr3 48967161 48967161 + T T C Missense_Mutation SNP ENST00000356401.8 exon6 c.T424C p.C142R exonic ENSG00000177479.19 . nonsynonymous SNV ENSG00000177479.19:ENST00000356401.8:exon6:c.T424C:p.C142R 3p21.31 C3L-03123 . . . . . . . . . 20.20 D D D D D D M D D 0.983 D D D 0.915 0.873 0.996 2.250 D D D D D D 4.202 28.700 0.997 D D 0.554 5.482 0.615 6.417 1.000 0.722 0.699 0.725 0.714 . 5.870 5.870 7.481 1.138 0.609 1.000 1.000 0.990 0 Zinc_finger,_RING-type . . . ARIH2 155 0 196 30 0.132743362831858 TRUE TRUE ENSG00000172046.19 . BCM GRCh38.p13 chr3 49116098 49116098 + G G A Missense_Mutation SNP ENST00000398888.6 exon9 c.C1117T p.R373C exonic ENSG00000172046.19 . nonsynonymous SNV ENSG00000172046.19:ENST00000398888.6:exon9:c.C1117T:p.R373C 3p21.31 C3L-03123 . . . . . . . . . 10.20 D D D P D D N T D 0.609 T T T 0.236 0.632 0.117 0.669 T T T T D D 3.728 25.500 0.999 D D 0.593 5.849 0.629 6.601 0.999 0.745 0.702 0.732 0.636 . 5.920 4.980 3.605 1.176 0.676 1.000 0.998 0.998 0 CS_domain . . . USP19 141 0 197 21 0.0963302752293578 TRUE TRUE ENSG00000172037.14 . BCM GRCh38.p13 chr3 49130290 49130290 + C C T Missense_Mutation SNP ENST00000305544.9 exon9 c.G1166A p.C389Y exonic ENSG00000172037.14 . nonsynonymous SNV ENSG00000172037.14:ENST00000305544.9:exon9:c.G1166A:p.C389Y 3p21.31 C3L-03123 . . . . . . . . . 19.20 D D D D D D H D D 0.983 D D D 0.981 0.990 0.998 1.760 D T D D D D 3.856 26.100 0.997 D D 1.071 16.330 0.949 16.035 1.000 0.737 0.590 0.733 0.714 . 5.170 5.170 7.899 1.026 0.549 1.000 1.000 0.970 0 Laminin_EGF_domain . . . LAMB2 416 0 512 51 0.0905861456483126 TRUE TRUE ENSG00000187492.9 . BCM GRCh38.p13 chr3 49798852 49798852 + G G T Missense_Mutation SNP ENST00000412678.7 exon4 c.C469A p.P157T exonic ENSG00000187492.9 . nonsynonymous SNV ENSG00000187492.9:ENST00000412678.7:exon4:c.C469A:p.P157T 3p21.31 C3L-03123 . . . . . . . . . 7.20 D D P B N N M T D 0.608 T T D 0.095 0.358 0.421 0.229 T T T T D T 2.469 22.300 0.996 D N -0.376 1.436 -0.306 1.553 1.000 0.554 0.588 0.547 0.613 . 4.810 3.940 4.624 0.221 -0.202 1.000 0.896 0.489 2 . . . . CDHR4 259 0 309 31 0.0911764705882353 TRUE TRUE ENSG00000114349.10 . BCM GRCh38.p13 chr3 50194573 50194573 + G G T Missense_Mutation SNP ENST00000232461.8 exon7 c.G781T p.V261L exonic ENSG00000114349.10 . nonsynonymous SNV ENSG00000114349.10:ENST00000232461.8:exon7:c.G781T:p.V261L 3p21.31 C3L-03123 . . . . . . . . . 15.20 D D B B D D M D N 0.565 T D D 0.615 0.616 0.957 0.824 D T D D D D 3.328 24.200 0.994 D D 0.017 2.571 0.188 3.126 1.000 0.649 0.596 0.504 0.636 . 5.140 5.140 4.550 1.176 0.676 1.000 1.000 0.986 4 . . . . GNAT1 522 0 635 67 0.0954415954415954 TRUE TRUE ENSG00000157445.15 . BCM GRCh38.p13 chr3 54562808 54562808 + A A T Missense_Mutation SNP ENST00000474759.6 exon6 c.A553T p.I185F exonic ENSG00000157445.15 . nonsynonymous SNV ENSG00000157445.15:ENST00000474759.6:exon6:c.A553T:p.I185F 3p14.3 C3L-03123 . . . . . . . . . 16.20 D D D D D D M T D 0.911 T T D 0.628 0.872 0.767 1.192 T D D D D D 4.035 27.200 0.988 D D 0.914 11.421 0.858 12.080 1.000 0.487 0.574 0.547 0.564 . 5.820 5.820 9.118 1.207 0.756 1.000 0.874 0.841 887 VWA_N-terminal . . . CACNA2D3 127 0 136 24 0.15 TRUE TRUE ENSG00000136068.15 . BCM GRCh38.p13 chr3 58153476 58153476 + T T C Missense_Mutation SNP ENST00000295956.9 exon39 c.T6469C p.F2157L exonic ENSG00000136068.15 . nonsynonymous SNV ENSG00000136068.15:ENST00000295956.9:exon39:c.T6469C:p.F2157L 3p14.3 C3L-03123 . . . . . . . . . 18.20 D D D D D D H T D 0.943 D D D 0.699 0.751 0.749 0.962 T D D D D D 4.428 31 0.999 D D 0.652 6.498 0.669 7.207 1.000 0.707 0.702 0.725 0.711 . 5.770 5.770 8.017 1.138 0.665 1.000 0.967 0.971 574 . . . . FLNB 513 0 574 68 0.105919003115265 TRUE TRUE ENSG00000185008.17 . BCM GRCh38.p13 chr3 77558016 77558016 + C C T Missense_Mutation SNP ENST00000461745.5 exon9 c.C1304T p.A435V exonic ENSG00000185008.17 . nonsynonymous SNV ENSG00000185008.17:ENST00000461745.5:exon9:c.C1304T:p.A435V 3p12.3 C3L-03123 1.661e-05 0.0001 0 0 0 1.502e-05 0 0 rs748723178 5.19 T T P B D . N T N 0.629 T T D 0.269 0.558 0.718 0.679 T T T T T D 1.820 17.880 0.550 D D 0.082 2.814 0.187 3.121 1.000 0.554 0.574 0.602 0.564 . 5.680 5.680 6.089 1.026 0.549 1.000 0.765 0.417 798 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV59935500;OCCURENCE=1(endometrium) ROBO2 343 0 337 49 0.126943005181347 TRUE TRUE ENSG00000080200.10 . BCM GRCh38.p13 chr3 97872363 97872363 + G G A Missense_Mutation SNP ENST00000389622.7 exon4 c.G1169A p.R390H exonic ENSG00000080200.10 . nonsynonymous SNV ENSG00000080200.10:ENST00000389622.7:exon4:c.G1169A:p.R390H 3q11.2 C3L-03123 . . . . . . . . . 1.11 . D . . . . . . . 0.058 T T . 0.053 0.241 0.203 . T T T T T T 1.703 17.050 0.941 N N -0.688 0.832 -0.646 0.978 1.000 0.781 0.588 0.618 0.600 . 5.960 4.080 0.896 1.176 0.676 0.001 0.023 0.063 797 . . . ID=COSV51711661;OCCURENCE=1(large_intestine) CRYBG3 198 0 239 35 0.127737226277372 TRUE TRUE ENSG00000175054.16 . BCM GRCh38.p13 chr3 142556459 142556459 + G G A Missense_Mutation SNP ENST00000350721.9 exon9 c.C2002T p.R668W exonic ENSG00000175054.16 . nonsynonymous SNV ENSG00000175054.16:ENST00000350721.9:exon9:c.C2002T:p.R668W 3q23 C3L-03123 8.25e-06 0 0 0 0 0 0 6.059e-05 rs761352811 14.20 D D D D D D L T D 0.745 T T D 0.551 0.574 0.897 0.689 T T D D D D 4.175 28.400 0.999 D D 0.464 4.767 0.461 4.823 0.743 0.651 0.654 0.659 0.684 . 5.160 4.280 4.223 0.220 0.618 1.000 0.999 0.998 616 . . . . ATR 234 0 264 26 0.0896551724137931 TRUE NA ENSG00000213186.8 . BCM GRCh38.p13 chr3 160438024 160438024 + C C T Missense_Mutation SNP ENST00000309784.9 exon3 c.G1160A p.C387Y exonic ENSG00000213186.8 . nonsynonymous SNV ENSG00000213186.8:ENST00000309784.9:exon3:c.G1160A:p.C387Y 3q25.33 C3L-03123 . . . . . . . . . 2.20 T D B B N D N T N 0.094 T T T 0.050 0.651 0.145 0.102 T T T T T T 0.329 4.622 0.373 N N -0.927 0.487 -0.917 0.597 1.000 0.707 0.725 0.609 0.592 . 5.680 2.920 0.141 -0.244 -1.062 0.039 0.904 0.052 754 . . . . TRIM59 40 0 45 8 0.150943396226415 TRUE TRUE ENSG00000114204.14 . BCM GRCh38.p13 chr3 167471659 167471659 + A A G Missense_Mutation SNP ENST00000476257.5 exon3 c.T176C p.V59A exonic ENSG00000114204.14 . nonsynonymous SNV ENSG00000114204.14:ENST00000476257.5:exon3:c.T176C:p.V59A 3q26.1 C3L-03123 . . . . . . . . . 8.20 D D P B N N L D N 0.488 T T D 0.531 0.751 0.650 0.524 T T D T D T 3.666 25.300 0.995 D D 0.421 4.479 0.503 5.184 0.276 0.487 0.574 0.547 0.564 . 5.700 5.700 6.023 1.312 0.756 0.881 0.994 0.988 716 Serpin_domain . . . SERPINI2 310 0 283 35 0.110062893081761 TRUE NA ENSG00000114248.10 . BCM GRCh38.p13 chr3 169869681 169869681 + C C T Missense_Mutation SNP ENST00000316428.10 exon1 c.G127A p.D43N exonic ENSG00000114248.10 . nonsynonymous SNV ENSG00000114248.10:ENST00000316428.10:exon1:c.G127A:p.D43N 3q26.2 C3L-03123 . . . . . . . . . 1.20 T T P B N N M T N 0.104 T T T 0.035 0.222 0.213 0.029 T T T T T T 0.688 8.343 0.585 N N -0.685 0.837 -0.741 0.841 0.617 0.447 0.492 0.547 0.530 . 4.400 3.530 0.488 0.877 0.599 0.000 0.014 0.011 422 . . . . LRRC31 195 0 243 33 0.119565217391304 TRUE NA ENSG00000114770.17 . BCM GRCh38.p13 chr3 183988677 183988677 + G G A Missense_Mutation SNP ENST00000334444.11 exon4 c.C338T p.S113L exonic ENSG00000114770.17 . nonsynonymous SNV ENSG00000114770.17:ENST00000334444.11:exon4:c.C338T:p.S113L 3q27.1 C3L-03123 8.252e-06 0 0 0 0 1.502e-05 0 0 rs758646463 11.20 D D D P D D M T D 0.812 T T T 0.351 0.583 0.440 0.839 T T T T D D 3.461 24.600 0.999 D D 0.741 7.740 0.721 8.164 1.000 0.737 0.588 0.733 0.636 . 5.750 5.750 7.193 1.176 0.676 1.000 0.992 0.991 351 . . . ID=COSV55586863;OCCURENCE=4(skin),1(lung) ABCC5 273 0 285 32 0.100946372239748 TRUE TRUE ENSG00000145191.15 . BCM GRCh38.p13 chr3 184140153 184140153 + A A C Missense_Mutation SNP ENST00000648915.2 exon6 c.A839C p.E280A exonic ENSG00000145191.15 . nonsynonymous SNV ENSG00000145191.15:ENST00000648915.2:exon6:c.A839C:p.E280A 3q27.1 C3L-03123 . . . . . . . . . 19.20 D D D D D D M D D 0.814 D D D 0.901 0.783 0.924 0.708 D T D D D D 4.192 28.600 0.997 D D 0.888 10.756 0.864 12.290 1.000 0.732 0.723 0.744 0.714 . 5.930 5.930 8.880 1.312 0.756 1.000 0.999 0.988 851 . . . . EIF2B5 549 0 661 84 0.112751677852349 TRUE TRUE ENSG00000136527.18 . BCM GRCh38.p13 chr3 185922117 185922117 + G G A Missense_Mutation SNP ENST00000453386.7 exon5 c.C532T p.R178C exonic ENSG00000136527.18 . nonsynonymous SNV ENSG00000136527.18:ENST00000453386.7:exon5:c.C532T:p.R178C 3q27.2 C3L-03123 . . . . . . . . . 9.20 T D B B D D L T D 0.461 T T T 0.148 0.413 0.223 2.076 D T T T D D 3.326 24.200 0.997 D D 0.067 2.756 0.221 3.287 1.000 0.672 0.698 0.702 0.711 . 6.030 4.190 4.594 1.176 0.676 1.000 1.000 0.998 923 RNA_recognition_motif_domain . . . TRA2B 100 0 132 15 0.102040816326531 TRUE NA ENSG00000061938.19 . BCM GRCh38.p13 chr3 195882259 195882259 + C C T Missense_Mutation SNP ENST00000333602.13 exon6 c.G679A p.G227R exonic ENSG00000061938.19 . nonsynonymous SNV ENSG00000061938.19:ENST00000333602.13:exon6:c.G679A:p.G227R 3q29 C3L-03123 . . . . . . . . . 7.20 T T D P N D N D N 0.670 T T T 0.262 0.495 0.933 1.053 T T T T D D 3.038 23.500 0.999 D D 0.096 2.870 0.221 3.288 0.550 0.672 0.702 0.723 0.636 . 4.740 4.740 1.531 1.022 0.596 1.000 1.000 0.999 884 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . TNK2 367 0 397 66 0.142548596112311 TRUE TRUE ENSG00000072274.13 . BCM GRCh38.p13 chr3 196074002 196074002 + C C T Missense_Mutation SNP ENST00000360110.9 exon4 c.G362A p.R121H exonic ENSG00000072274.13 . nonsynonymous SNV ENSG00000072274.13:ENST00000360110.9:exon4:c.G362A:p.R121H 3q29 C3L-03123 8.238e-05 0 0.0008 0 0 1.499e-05 0 0 rs772641140 0.20 T T B B N N L T N 0.054 T T T 0.024 0.437 0.309 0.199 T T T T T T -0.113 0.779 0.719 N N -1.152 0.263 -1.185 0.296 1.000 0.707 0.672 0.702 0.714 . 5.500 -0.264 -1.065 -0.815 -1.338 0.000 0.022 0.000 613 . . . ID=COSV64053836;OCCURENCE=1(lung),1(endometrium) TFRC 239 0 252 34 0.118881118881119 TRUE TRUE ENSG00000159788.19 . BCM GRCh38.p13 chr4 3317380 3317380 + G G A Missense_Mutation SNP ENST00000344733.9 exon2 c.G1210A p.A404T exonic ENSG00000159788.19 . nonsynonymous SNV ENSG00000159788.19:ENST00000344733.9:exon2:c.G1210A:p.A404T 4p16.3 C3L-03123 8.25e-06 0 0 0 0 1.502e-05 0 0 rs768337709 11.20 D D D P D D M T N 0.756 T T D 0.201 0.323 0.618 0.610 T T T T D D 3.224 23.900 0.999 D D 0.631 6.253 0.636 6.698 1.000 0.615 0.588 0.659 0.636 . 4.730 4.730 9.613 1.164 0.604 1.000 0.814 0.755 693 . . . ID=COSV60907521;OCCURENCE=3(large_intestine),1(haematopoietic_and_lymphoid_tissue) RGS12 315 0 428 49 0.10272536687631 TRUE TRUE ENSG00000157765.13 . BCM GRCh38.p13 chr4 25676469 25676469 + G G A Missense_Mutation SNP ENST00000382051.8 exon13 c.G1793A p.R598H exonic ENSG00000157765.13 . nonsynonymous SNV ENSG00000157765.13:ENST00000382051.8:exon13:c.G1793A:p.R598H 4p15.2 C3L-03123 8.253e-06 0 0 0 0 0 0 6.057e-05 rs780836430 0.20 T T B B N N N T N 0.113 T T T 0.169 0.761 0.263 0.301 T T T T T T -0.739 0.035 0.865 N N -1.643 0.046 -1.580 0.081 0.082 0.615 0.547 0.659 0.564 . 5.180 -7.820 0.053 -1.293 -1.153 0.410 0.920 0.778 923 . . . . SLC34A2 408 2 455 55 0.107843137254902 TRUE NA ENSG00000145244.12 . BCM GRCh38.p13 chr4 47692994 47692994 + C C T Missense_Mutation SNP ENST00000273857.9 exon6 c.G889A p.D297N exonic ENSG00000145244.12 . nonsynonymous SNV ENSG00000145244.12:ENST00000273857.9:exon6:c.G889A:p.D297N 4p12 C3L-03123 8.242e-06 0 0 0 0 1.499e-05 0 0 rs751480678 19.20 D D D D D D M D D 0.912 D D D 0.780 0.720 0.967 0.319 T D D D D D 4.115 27.900 0.999 D D 0.726 7.491 0.660 7.068 1.000 0.581 0.627 0.565 0.613 . 5.650 4.790 7.324 1.023 0.544 1.000 0.701 0.961 535 . . . ID=COSV56687485;OCCURENCE=2(liver) CORIN 252 0 251 44 0.149152542372881 TRUE TRUE ENSG00000138663.9 . BCM GRCh38.p13 chr4 83063125 83063125 + C C A Nonsense_Mutation SNP ENST00000264389.7 exon7 c.C765A p.C255X exonic ENSG00000138663.9 . stopgain ENSG00000138663.9:ENST00000264389.7:exon7:c.C765A:p.C255X 4q21.22 C3L-03123 . . . . . . . . . 5.6 . . . . D A . . . 0.564 . . . . . . . . . D D . . 6.671 36 0.994 D N 0.638 6.332 0.449 4.726 0.003 0.732 0.744 0.710 0.714 . 5.830 1.520 0.527 0.126 0.549 0.997 1.000 0.999 917 Proteasome_component_(PCI)_domain . . . COPS4 199 1 222 12 0.0512820512820513 TRUE TRUE ENSG00000163644.15 . BCM GRCh38.p13 chr4 88278474 88278474 + G G A Missense_Mutation SNP ENST00000608933.6 exon2 c.C110T p.T37M exonic ENSG00000163644.15 . nonsynonymous SNV ENSG00000163644.15:ENST00000608933.6:exon2:c.C110T:p.T37M 4q22.1 C3L-03123 8.243e-05 9.623e-05 0.0003 0 0.0002 5.998e-05 0 6.059e-05 rs537053098 1.20 T T B B N N L T N 0.111 T T T 0.037 . 0.636 0.300 T T T T T D 0.925 10.710 0.983 N N -0.447 1.284 -0.476 1.241 1.000 0.624 0.517 0.668 0.568 . 4.310 3.470 0.535 1.071 0.524 0.001 0.002 0.438 673 . . . ID=COSV55796456;OCCURENCE=1(large_intestine) PPM1K 432 0 403 50 0.11037527593819 TRUE TRUE ENSG00000138814.17 . BCM GRCh38.p13 chr4 101093824 101093824 + T T C Missense_Mutation SNP ENST00000394854.8 exon6 c.A734G p.Q245R exonic ENSG00000138814.17 . nonsynonymous SNV ENSG00000138814.17:ENST00000394854.8:exon6:c.A734G:p.Q245R 4q24 C3L-03123 . . . . . . . . . 8.20 T T B B D D N T N 0.461 T T T 0.143 0.324 0.642 1.434 D D T T D D 2.294 21.500 0.975 D D -0.161 1.989 0.042 2.507 1.000 0.706 0.670 0.710 0.613 . 5.260 5.260 4.729 1.129 0.597 1.000 1.000 0.999 861 Serine/threonine-specific_protein_phosphatase/bis(5-nucleosyl)-tetraphosphatase;Calcineurin-like_phosphoesterase_domain,_ApaH_type . . ID=COSV59928585;OCCURENCE=2(large_intestine) PPP3CA 109 1 98 9 0.0841121495327103 NA TRUE ENSG00000138658.15 . BCM GRCh38.p13 chr4 112617493 112617493 + G G A Missense_Mutation SNP ENST00000505019.5 exon6 c.C2549T p.T850I exonic ENSG00000138658.15 . nonsynonymous SNV ENSG00000138658.15:ENST00000505019.5:exon6:c.C2549T:p.T850I 4q25 C3L-03123 . . . . . . . . . 3.19 D T B B N N L D N 0.129 T T D 0.065 0.279 0.250 0.076 . T T T T T 0.215 3.293 0.943 N N -1.025 0.378 -1.046 0.434 0.000 0.615 0.634 0.609 0.655 . 5.980 2.250 0.164 -1.264 -0.780 0.000 0.001 0.100 832 . . . . ZGRF1 89 0 101 12 0.106194690265487 TRUE NA ENSG00000138741.11 . BCM GRCh38.p13 chr4 121911978 121911978 + G G A Missense_Mutation SNP ENST00000379645.8 exon5 c.C1457T p.T486M exonic ENSG00000138741.11 . nonsynonymous SNV ENSG00000138741.11:ENST00000379645.8:exon5:c.C1457T:p.T486M 4q27 C3L-03123 1.649e-05 0 0 0 0 1.5e-05 0 6.058e-05 rs766044392 5.16 T T . . D D . T N 0.541 T T D 0.150 . 0.507 0.801 T . T T T D 2.304 21.600 0.936 D N 0.017 2.573 0.181 3.092 0.011 0.554 0.574 0.618 0.530 . 5.490 5.490 2.734 1.083 0.676 0.993 0.938 0.878 834 . . . ID=COSV99312717;OCCURENCE=1(ovary) TRPC3 464 0 474 60 0.112359550561798 TRUE NA ENSG00000137473.17 . BCM GRCh38.p13 chr4 146939864 146939864 + C C T Missense_Mutation SNP ENST00000325106.8 exon3 c.G32A p.R11H exonic ENSG00000137473.17 . nonsynonymous SNV ENSG00000137473.17:ENST00000325106.8:exon3:c.G32A:p.R11H 4q31.22 C3L-03123 4.248e-05 0.0001 0 0 0 6.101e-05 0 0 rs759589838 1.20 T T B B N N L T D 0.144 T T T 0.030 . 0.113 0.016 T T T T T T 0.788 9.275 0.998 N N -0.795 0.663 -0.735 0.850 0.021 0.549 0.574 0.574 0.616 . 5.300 2.430 -0.128 0.138 0.599 0.000 0.330 0.921 925 . . . ID=COSV57271312;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(kidney) TTC29 243 0 307 27 0.0808383233532934 TRUE TRUE ENSG00000198589.14 . BCM GRCh38.p13 chr4 150590764 150590764 + C C T Missense_Mutation SNP ENST00000357115.9 exon40 c.G6175A p.D2059N exonic ENSG00000198589.14 . nonsynonymous SNV ENSG00000198589.14:ENST00000357115.9:exon40:c.G6175A:p.D2059N 4q31.3 C3L-03123 . . . . . . . . . 11.20 T D D D N D M T D 0.768 T T D 0.164 0.469 0.533 0.528 T T T T D D 3.551 24.900 0.999 D D 0.408 4.395 0.529 5.433 1.000 0.707 0.725 0.688 0.564 . 5.850 5.850 7.568 1.026 0.599 1.000 1.000 0.998 820 . . . . LRBA 208 0 245 23 0.0858208955223881 TRUE NA ENSG00000154447.15 . BCM GRCh38.p13 chr4 169107052 169107052 + C C A Missense_Mutation SNP ENST00000284637.14 exon11 c.G2293T p.G765C exonic ENSG00000154447.15 . nonsynonymous SNV ENSG00000154447.15:ENST00000284637.14:exon11:c.G2293T:p.G765C 4q32.3 C3L-03123 . . . . . . . . . 4.20 D T D P N N M T N 0.406 T T T 0.157 0.260 0.537 0.876 T T T T D T 2.572 22.600 0.996 N N -0.036 2.387 -0.195 1.797 1.000 0.651 0.654 0.651 0.636 . 5.760 4.920 1.074 1.026 0.599 0.003 0.001 0.001 824 . . . . SH3RF1 245 0 272 35 0.11400651465798 TRUE TRUE ENSG00000083857.14 . BCM GRCh38.p13 chr4 186619820 186619820 + C C T Missense_Mutation SNP ENST00000441802.7 exon10 c.G6766A p.A2256T exonic ENSG00000083857.14 . nonsynonymous SNV ENSG00000083857.14:ENST00000441802.7:exon10:c.G6766A:p.A2256T 4q35.2 C3L-03123 3.312e-05 0 0 0.0002 0 2.997e-05 0 0 rs752611276 18.20 D D D D D D H T D 0.979 D D D 0.803 0.818 0.746 0.496 T D D D D D 3.437 24.500 0.998 D D 0.799 8.766 0.599 6.207 1.000 0.672 0.574 0.702 0.668 . 5.050 5.050 7.905 1.026 0.599 1.000 0.013 0.085 889 Cadherin-like . . ID=COSV71675024;OCCURENCE=2(large_intestine) FAT1 251 0 287 35 0.108695652173913 TRUE TRUE ENSG00000185028.4 . BCM GRCh38.p13 chr5 195199 195199 + G G A Missense_Mutation SNP ENST00000328278.4 exon2 c.G1391A p.R464Q exonic ENSG00000185028.4 . nonsynonymous SNV ENSG00000185028.4:ENST00000328278.4:exon2:c.G1391A:p.R464Q 5p15.33 C3L-03123 2.485e-05 0 0 0 0 4.497e-05 0 0 rs764290390 0.20 T T B B N N N T N 0.234 T T T 0.044 . 0.061 0.243 T T T T T T 0.596 7.477 0.933 N N -1.187 0.236 -1.158 0.319 0.992 0.554 0.588 0.576 0.563 . 5.410 -1.620 1.784 0.143 -0.113 0.719 0.030 0.007 862 . . . ID=COSV57255999;OCCURENCE=1(bone) LRRC14B 556 0 730 126 0.147196261682243 TRUE TRUE ENSG00000174358.16 . BCM GRCh38.p13 chr5 1214046 1214046 + T T C Missense_Mutation SNP ENST00000304460.11 exon6 c.T868C p.S290P exonic ENSG00000174358.16 . nonsynonymous SNV ENSG00000174358.16:ENST00000304460.11:exon6:c.T868C:p.S290P 5p15.33 C3L-03123 . . . . . . . . . 18.20 D D D D D D H T D 0.937 D D D 0.893 0.892 0.948 0.883 T D D D D D 4.448 32 0.999 D D 0.816 9.103 0.713 8.000 1.000 0.403 0.547 0.578 0.613 . 4.960 4.960 4.721 1.073 0.609 1.000 1.000 0.968 952 . . . . SLC6A19 450 0 492 50 0.0922509225092251 TRUE TRUE ENSG00000170561.13 . BCM GRCh38.p13 chr5 2748378 2748378 + G G A Missense_Mutation SNP ENST00000302057.6 exon3 c.C1330T p.R444W exonic ENSG00000170561.13 . nonsynonymous SNV ENSG00000170561.13:ENST00000302057.6:exon3:c.C1330T:p.R444W 5p15.33 C3L-03123 . . . . . . . . . 13.20 D D D P N D M T D 0.739 T T D 0.401 0.257 0.733 0.864 D T D D D T 3.562 24.900 0.998 D D -0.067 2.283 -0.140 1.938 1.000 0.646 0.574 0.696 0.639 . 4.430 0.708 1.305 -0.336 -0.306 1.000 0.948 0.749 927 . . . . IRX2 453 0 402 70 0.148305084745763 TRUE TRUE ENSG00000170549.4 . BCM GRCh38.p13 chr5 3596337 3596337 + G G A Missense_Mutation SNP ENST00000302006.4 exon1 c.G232A p.A78T exonic ENSG00000170549.4 . nonsynonymous SNV ENSG00000170549.4:ENST00000302006.4:exon1:c.G232A:p.A78T 5p15.33 C3L-03123 . . . . . . . . . 8.20 T T D D U D M T N 0.467 T T D 0.212 0.376 0.912 . D T T T D D 3.913 26.400 0.999 N N 0.382 4.234 0.284 3.623 1.000 0.685 0.547 0.674 0.639 . 2.560 2.560 2.762 1.008 0.516 1.000 0.834 0.930 987 . . . . IRX1 150 0 210 29 0.121338912133891 TRUE TRUE ENSG00000168685.15 . BCM GRCh38.p13 chr5 35867414 35867414 + G G T Missense_Mutation SNP ENST00000303115.8 exon3 c.G330T p.K110N exonic ENSG00000168685.15 . nonsynonymous SNV ENSG00000168685.15:ENST00000303115.8:exon3:c.G330T:p.K110N 5p13.2 C3L-03123 . . . . . . . . . 4.20 T D D P N N M T N 0.517 T T D 0.296 0.491 0.868 0.090 T T T T T T 1.229 13.860 0.994 N N -0.369 1.451 -0.553 1.118 0.993 0.615 0.588 0.574 0.655 . 5.700 -1.780 -0.234 -0.670 -0.198 0.054 0.154 0.066 632 . . . ID=COSV57414424;OCCURENCE=1(breast),1(large_intestine) IL7R 266 1 298 40 0.118343195266272 TRUE TRUE ENSG00000197603.14 . BCM GRCh38.p13 chr5 37184842 37184842 + G G A Missense_Mutation SNP ENST00000425232.6 exon25 c.C4427T p.T1476M exonic ENSG00000197603.14 . nonsynonymous SNV ENSG00000197603.14:ENST00000425232.6:exon25:c.C4427T:p.T1476M 5p13.2 C3L-03123 . . . . . . . . . 3.16 D T . . N N . T D 0.078 T T D 0.224 . 0.395 0.234 . T T T T T 0.350 4.859 0.955 N N -0.690 0.830 -0.743 0.838 1.000 0.707 0.686 0.602 0.714 . 6.080 3.380 0.642 -0.552 -1.694 0.003 0.040 0.030 140 . . . . CPLANE1 324 0 333 44 0.116710875331565 TRUE NA ENSG00000169271.3 . BCM GRCh38.p13 chr5 54456136 54456136 + G G A Missense_Mutation SNP ENST00000302005.3 exon1 c.G347A p.R116Q exonic ENSG00000169271.3 . nonsynonymous SNV ENSG00000169271.3:ENST00000302005.3:exon1:c.G347A:p.R116Q 5q11.2 C3L-03123 0.0008 0 0.0083 0 0 1.498e-05 0 0.0004 rs150931007 18.20 D D D D D D H D D 0.915 D D D 0.881 . 0.959 0.511 T D D D T D 4.281 29.400 1.000 D D 0.977 13.216 0.896 13.583 1.000 0.447 0.563 0.547 0.530 . 5.810 5.810 7.817 1.176 0.676 0.999 0.991 0.579 503 Heat_shock_protein_beta-3;Alpha_crystallin/Hsp20_domain . . ID=COSV57356641;OCCURENCE=1(pancreas) HSPB3 834 0 917 112 0.108843537414966 TRUE TRUE ENSG00000164253.14 . BCM GRCh38.p13 chr5 77433254 77433254 + T T C Missense_Mutation SNP ENST00000296679.9 exon13 c.A1261G p.T421A exonic ENSG00000164253.14 . nonsynonymous SNV ENSG00000164253.14:ENST00000296679.9:exon13:c.A1261G:p.T421A 5q13.3 C3L-03123 . . . . . . . . . 12.20 D D P B D D M T N 0.876 T T D 0.533 0.621 0.594 0.145 T T D D D D 3.444 24.500 0.996 D D 0.576 5.684 0.646 6.853 1.000 0.732 0.744 0.710 0.728 . 5.960 5.960 7.354 1.138 0.609 1.000 1.000 0.992 646 . . . . WDR41 172 0 169 23 0.119791666666667 TRUE TRUE ENSG00000158985.13 . BCM GRCh38.p13 chr5 131385630 131385630 + A A G Missense_Mutation SNP ENST00000505065.1 exon4 c.A142G p.S48G exonic ENSG00000158985.13 . nonsynonymous SNV ENSG00000158985.13:ENST00000505065.1:exon4:c.A142G:p.S48G 5q31.1 C3L-03123 . . . . . . . . . 5.18 T T B B D D . . N 0.547 T T T 0.234 0.151 0.266 0.685 T T T T D T 2.479 22.400 0.994 D D 0.000 2.512 0.142 2.912 1.000 0.719 0.702 0.710 0.734 . 4.510 4.510 5.648 1.312 0.756 1.000 0.998 0.997 386 CRIB_domain . . . CDC42SE2 170 0 154 26 0.144444444444444 TRUE TRUE ENSG00000069018.19 . BCM GRCh38.p13 chr5 136216250 136216250 + - NA T Frame_Shift_Ins NA ENST00000513104.6 exon11 c.2368dupA p.R790Kfs*13 exonic ENSG00000069018.19 . frameshift insertion ENSG00000069018.19:ENST00000513104.6:exon11:c.2368dupA:p.R790Kfs*13 5q31.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRPC7 NA NA NA NA NA NA NA ENSG00000240764.4 . BCM GRCh38.p13 chr5 141489728 141489728 + G G A Missense_Mutation SNP ENST00000252087.3 exon1 c.G488A p.G163D exonic ENSG00000240764.4 . nonsynonymous SNV ENSG00000240764.4:ENST00000252087.3:exon1:c.G488A:p.G163D 5q31.3 C3L-03123 . . . . . . . . . 16.20 D D D D D D M T D 0.880 T T D 0.566 0.665 0.905 1.252 D T D D D D 4.034 27.200 0.997 D D 0.990 13.596 0.914 14.347 1.000 0.516 0.588 0.409 0.586 . 6.080 6.080 9.955 1.176 0.676 1.000 0.997 0.928 737 Cadherin-like . . ID=COSV52776399;OCCURENCE=1(thyroid) PCDHGC5 198 0 215 26 0.107883817427386 TRUE TRUE ENSG00000156453.13 . BCM GRCh38.p13 chr5 141863836 141863836 + G G A Missense_Mutation SNP ENST00000394536.4 exon3 c.C2495T p.T832M exonic ENSG00000156453.13 . nonsynonymous SNV ENSG00000156453.13:ENST00000394536.4:exon3:c.C2495T:p.T832M 5q31.3 C3L-03123 6.606e-05 0 8.642e-05 0 0 0.0001 0 0 rs555945646 14.20 D D D D D D M T D 0.803 T T D 0.554 . 0.155 1.335 T T T D D D 4.071 27.500 0.999 D D 0.830 9.387 0.783 9.647 1.000 0.672 0.590 0.702 0.711 . 5.230 5.230 9.957 1.176 0.676 1.000 0.671 0.526 910 Protocadherin . . . PCDH1 352 1 406 49 0.107692307692308 TRUE NA ENSG00000113555.5 . BCM GRCh38.p13 chr5 141955067 141955067 + G G A Missense_Mutation SNP ENST00000231484.3 exon1 c.C2785T p.R929C exonic ENSG00000113555.5 . nonsynonymous SNV ENSG00000113555.5:ENST00000231484.3:exon1:c.C2785T:p.R929C 5q31.3 C3L-03123 1.67e-05 0 8.648e-05 0 0 1.52e-05 0 0 rs182860036 10.20 D D D P N D M T N 0.223 T T D 0.192 . 0.875 0.509 T T T T D D 4.366 31 0.999 D D 0.564 5.572 0.540 5.542 1.000 0.615 0.547 0.547 0.655 . 4.810 4.810 6.560 1.176 0.676 1.000 0.639 0.911 870 . . . ID=COSV51521112;OCCURENCE=1(large_intestine),1(skin) PCDH12 423 0 516 58 0.101045296167247 TRUE TRUE ENSG00000145819.18 . BCM GRCh38.p13 chr5 143134073 143134073 + C C T Missense_Mutation SNP ENST00000274498.9 exon19 c.C1805T p.T602M exonic ENSG00000145819.18 . nonsynonymous SNV ENSG00000145819.18:ENST00000274498.9:exon19:c.C1805T:p.T602M 5q31.3 C3L-03123 4.956e-05 0.0003 0 0.0001 0.0002 0 0 6.115e-05 rs770272847 9.20 D T D D D D M T N 0.655 T T T 0.185 0.285 0.424 1.254 T T T T T D 3.166 23.800 0.999 D D 0.649 6.456 0.692 7.613 1.000 0.707 0.725 0.644 0.542 . 5.950 5.950 5.524 1.026 0.599 1.000 0.998 0.893 910 . . . ID=COSV50843457;OCCURENCE=1(NS) ARHGAP26 102 0 118 23 0.163120567375887 TRUE TRUE ENSG00000113649.11 . BCM GRCh38.p13 chr5 146503405 146503405 + A A G Missense_Mutation SNP ENST00000296702.9 exon17 c.A2413G p.N805D exonic ENSG00000113649.11 . nonsynonymous SNV ENSG00000113649.11:ENST00000296702.9:exon17:c.A2413G:p.N805D 5q32 C3L-03123 . . . . . . . . rs755292554 5.20 T T B B D D N T N 0.178 T T T 0.128 0.485 0.374 1.115 T T T T D D 2.359 21.900 0.988 D N -0.365 1.460 -0.064 2.152 0.998 0.732 0.744 0.725 0.728 . 5.050 5.050 6.523 1.295 0.691 1.000 1.000 0.999 920 FF_domain . . . TCERG1 159 0 201 37 0.15546218487395 TRUE NA ENSG00000135074.16 . BCM GRCh38.p13 chr5 157497046 157497046 + C C T Missense_Mutation SNP ENST00000517905.1 exon14 c.G1442A p.C481Y exonic ENSG00000135074.16 . nonsynonymous SNV ENSG00000135074.16:ENST00000517905.1:exon14:c.G1442A:p.C481Y 5q33.3 C3L-03123 . . . . . . . . . 18.20 D D D D D D H T D 0.970 D D D 0.696 0.941 0.841 1.894 T D D D D D 3.993 26.900 0.998 D D 0.742 7.755 0.706 7.864 1.000 0.732 0.702 0.786 0.728 . 5.350 5.350 7.870 1.008 0.599 1.000 0.966 0.934 813 Disintegrin_domain . . . ADAM19 149 0 191 29 0.131818181818182 TRUE TRUE ENSG00000145934.16 . BCM GRCh38.p13 chr5 168247685 168247685 + A A G Missense_Mutation SNP ENST00000518659.5 exon27 c.A6746G p.D2249G exonic ENSG00000145934.16 . nonsynonymous SNV ENSG00000145934.16:ENST00000518659.5:exon27:c.A6746G:p.D2249G 5q34 C3L-03123 . . . . . . . . . 18.20 D D D D D D M D D 0.929 D D D 0.935 0.678 0.928 1.429 T T D D D D 4.252 29.200 0.998 D D 0.910 11.315 0.866 12.370 1.000 0.638 0.547 0.653 0.564 . 5.590 5.590 9.325 1.312 0.756 1.000 0.998 0.990 898 . . . . TENM2 332 0 343 45 0.115979381443299 TRUE TRUE ENSG00000131187.9 . BCM GRCh38.p13 chr5 177404544 177404544 + G G A Missense_Mutation SNP ENST00000253496.3 exon8 c.C755T p.A252V exonic ENSG00000131187.9 . nonsynonymous SNV ENSG00000131187.9:ENST00000253496.3:exon8:c.C755T:p.A252V 5q35.3 C3L-03123 . . . . . . . . rs985081288 1.20 T T P B N N L T N 0.137 T T D 0.077 0.469 0.705 0.841 T T T T T T 0.814 9.529 0.984 N N -0.772 0.696 -0.878 0.650 1.000 0.564 0.179 0.504 0.273 . 5.010 0.324 -0.183 0.111 0.590 0.000 0.047 0.829 929 Kringle . . . F12 340 0 472 29 0.0578842315369262 TRUE NA ENSG00000161013.17 . BCM GRCh38.p13 chr5 179799619 179799619 + G G T Missense_Mutation SNP ENST00000292591.12 exon9 c.C928A p.L310M exonic ENSG00000161013.17 . nonsynonymous SNV ENSG00000161013.17:ENST00000292591.12:exon9:c.C928A:p.L310M 5q35.3 C3L-03123 . . . . . . . . . 7.19 T T D D D D L T N 0.505 T T T 0.100 0.283 0.285 1.300 D T T T D . 2.709 22.800 0.993 D N 0.296 3.759 0.260 3.493 1.000 0.672 0.702 0.702 0.711 . 4.370 3.500 2.431 0.158 0.672 0.997 0.973 0.984 906 . . . . MGAT4B 262 0 309 55 0.151098901098901 TRUE TRUE ENSG00000146054.18 . BCM GRCh38.p13 chr5 181204764 181204764 + T T C Missense_Mutation SNP ENST00000274773.12 exon1 c.A347G p.H116R exonic ENSG00000146054.18 . nonsynonymous SNV ENSG00000146054.18:ENST00000274773.12:exon1:c.A347G:p.H116R 5q35.3 C3L-03123 . . . . . . . . . 2.20 T T B B N N N T N 0.064 T T D 0.029 0.195 0.208 1.571 D T T T T T -0.091 0.864 0.498 N N -1.502 0.080 -1.522 0.100 1.000 0.455 0.542 0.608 0.568 . 3.390 -3.430 -0.597 -0.450 -0.625 0.000 0.004 0.023 . . . . . TRIM7 238 0 199 18 0.0829493087557604 TRUE TRUE ENSG00000095951.17 . BCM GRCh38.p13 chr6 12122680 12122680 + A A - Frame_Shift_Del DEL ENST00000379388.7 exon4 c.2885delA p.T963Lfs*30 exonic ENSG00000095951.17 . frameshift deletion ENSG00000095951.17:ENST00000379388.7:exon4:c.2885delA:p.T963Lfs*30 6p24.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HIVEP1 207 0 315 30 0.0869565217391304 TRUE TRUE ENSG00000204498.11 . BCM GRCh38.p13 chr6 31558483 31558483 + C C T Missense_Mutation SNP ENST00000376148.9 exon4 c.C1018T p.R340C exonic ENSG00000204498.11 . nonsynonymous SNV ENSG00000204498.11:ENST00000376148.9:exon4:c.C1018T:p.R340C 6p21.33 C3L-03123 0 0 0 0 0 0 0 0 rs200385924 9.19 D D D B N D . T D 0.543 T T D 0.135 . 0.204 1.808 T T T T D D 3.420 24.500 0.999 D N 0.475 4.845 0.502 5.174 1.000 0.732 0.672 0.744 0.735 . 5.640 4.730 3.101 1.026 0.599 0.961 1.000 0.998 934 . . . . NFKBIL1 286 0 368 39 0.0958230958230958 TRUE NA ENSG00000204469.13 . BCM GRCh38.p13 chr6 31629258 31629258 + G G A Missense_Mutation SNP ENST00000376033.3 exon13 c.G1880A p.R627H exonic ENSG00000204469.13 . nonsynonymous SNV ENSG00000204469.13:ENST00000376033.3:exon13:c.G1880A:p.R627H 6p21.33 C3L-03123 . . . . . . . . rs1011254957 6.20 D T D P D D L T N 0.245 T T T 0.139 0.129 0.093 0.435 T T T T D D 3.418 24.500 0.999 N N 0.431 4.539 0.401 4.365 1.000 0.672 0.698 0.702 0.711 . 5.550 5.550 1.251 1.163 0.664 0.002 0.046 0.967 878 . . . . PRRC2A 166 0 226 32 0.124031007751938 TRUE NA ENSG00000204396.11 . BCM GRCh38.p13 chr6 31775408 31775408 + A A G Missense_Mutation SNP ENST00000375688.5 exon4 c.T535C p.W179R exonic ENSG00000204396.11 . nonsynonymous SNV ENSG00000204396.11:ENST00000375688.5:exon4:c.T535C:p.W179R 6p21.33 C3L-03123 . . . . . . . . . 14.19 D D D D D D M T D 0.950 T T D 0.781 . 0.516 1.350 T T D D D . 4.159 28.300 0.997 D D 0.784 8.476 0.767 9.207 1.000 0.554 0.588 0.578 0.568 . 5.670 5.670 7.742 1.312 0.756 1.000 1.000 0.983 895 . . . . VWA7 200 0 265 23 0.0798611111111111 TRUE TRUE ENSG00000243649.9 . BCM GRCh38.p13 chr6 31947393 31947393 + T T C Missense_Mutation SNP ENST00000425368.7 exon4 c.T530C p.V177A exonic ENSG00000243649.9;ENSG00000244255.5 . nonsynonymous SNV ENSG00000243649.9:ENST00000425368.7:exon4:c.T530C:p.V177A,ENSG00000244255.5:ENST00000456570.5:exon16:c.T2036C:p.V679A 6p21.33 C3L-03123 . . . . . . . . . 2.20 T T B B N D N T N 0.095 T T T 0.041 0.525 0.126 0.572 T T T T T T 2.120 20.300 0.965 N D -0.504 1.168 -0.356 1.453 1.000 0.554 0.514 0.514 0.568 . 4.930 0.996 0.421 1.049 0.665 0.999 1.000 0.997 923 Sushi/SCR/CCP_domain . . . CFB 780 0 840 121 0.125910509885536 TRUE TRUE ENSG00000157343.8 . BCM GRCh38.p13 chr6 35747379 35747379 + G G A Missense_Mutation SNP ENST00000373866.3 exon4 c.G563A p.R188Q exonic ENSG00000157343.8 . nonsynonymous SNV ENSG00000157343.8:ENST00000373866.3:exon4:c.G563A:p.R188Q 6p21.31 C3L-03123 2.471e-05 0 0 0 0 0 0 0.0002 rs756954794 8.20 T D D P D D M T N 0.709 T T T 0.276 0.691 0.772 0.549 T T T T D D 3.964 26.700 0.999 D N 0.273 3.646 0.304 3.741 0.561 0.706 0.634 0.710 0.616 . 4.470 4.470 3.722 1.176 0.676 1.000 0.995 0.997 675 Armadillo_repeat-containing_domain . . ID=COSV55362032;OCCURENCE=1(stomach) ARMC12 401 0 492 49 0.0905730129390018 TRUE TRUE ENSG00000112139.16 . BCM GRCh38.p13 chr6 37650144 37650144 + C C T Missense_Mutation SNP ENST00000434837.8 exon8 c.G1574A p.R525H exonic ENSG00000112139.16 . nonsynonymous SNV ENSG00000112139.16:ENST00000434837.8:exon8:c.G1574A:p.R525H 6p21.2 C3L-03123 . . . . . . . . . 6.20 T D D P N D N T N 0.405 T T T 0.148 0.488 0.654 1.863 T T T T D D 3.645 25.200 0.999 D N 0.421 4.478 0.404 4.390 1.000 0.598 0.541 0.378 0.639 . 3.920 3.920 3.757 1.026 0.599 1.000 0.978 0.980 892 Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV51801910;OCCURENCE=1(large_intestine) MDGA1 199 0 246 25 0.0922509225092251 TRUE TRUE ENSG00000112624.12 . BCM GRCh38.p13 chr6 42829660 42829660 + A A G Missense_Mutation SNP ENST00000314073.9 exon6 c.A1327G p.M443V exonic ENSG00000112624.12 . nonsynonymous SNV ENSG00000112624.12:ENST00000314073.9:exon6:c.A1327G:p.M443V 6p21.1 C3L-03123 . . . . . . . . . 8.19 D T B P D D . T N 0.646 T T T 0.154 0.428 0.155 0.789 T T D D D D 2.676 22.800 0.993 D N 0.314 3.852 0.420 4.501 0.999 0.707 0.702 0.725 0.636 . 5.870 5.870 4.867 1.307 0.751 1.000 1.000 1.000 435 . . . . BICRAL 359 0 390 60 0.133333333333333 TRUE TRUE ENSG00000112782.19 . BCM GRCh38.p13 chr6 45941583 45941583 + C C T Missense_Mutation SNP ENST00000185206.12 exon4 c.G847A p.A283T exonic ENSG00000112782.19 . nonsynonymous SNV ENSG00000112782.19:ENST00000185206.12:exon4:c.G847A:p.A283T 6p21.1 C3L-03123 . . . . . . . . . 16.20 D D P B D D M D D 0.883 D D D 0.774 0.662 0.976 0.237 T T D D D D 3.277 24.100 0.998 D D 0.582 5.741 0.600 6.220 1.000 0.554 0.574 0.602 0.564 . 5.440 5.440 7.844 0.947 0.599 1.000 0.999 0.994 867 Glutathione_S-transferase,_C-terminal-like . . . CLIC5 421 0 542 54 0.0906040268456376 TRUE TRUE ENSG00000082269.16 . BCM GRCh38.p13 chr6 70559755 70559755 + C C T Missense_Mutation SNP ENST00000418814.6 exon22 c.C4382T p.P1461L exonic ENSG00000082269.16 . nonsynonymous SNV ENSG00000082269.16:ENST00000418814.6:exon22:c.C4382T:p.P1461L 6q13 C3L-03123 . . . . . . . . . 15.20 D D D D D D M T D 0.843 T T D 0.483 0.758 0.629 0.769 T T D D D D 3.233 23.900 0.999 D D 0.728 7.526 0.651 6.920 1.000 0.638 0.634 0.659 0.668 . 5.410 5.410 7.905 1.026 0.549 1.000 0.122 0.046 783 . . . . FAM135A 382 0 335 43 0.113756613756614 TRUE TRUE ENSG00000079841.18 . BCM GRCh38.p13 chr6 72251255 72251255 + C C T Missense_Mutation SNP ENST00000521978.5 exon15 c.C2585T p.P862L exonic ENSG00000079841.18 . nonsynonymous SNV ENSG00000079841.18:ENST00000521978.5:exon15:c.C2585T:p.P862L 6q13 C3L-03123 0 0 0 0 0 0 0 0 rs771037675 18.20 D D D D D D M T D 0.849 D T D 0.633 0.392 0.833 0.637 D D D D D D 3.769 25.700 0.999 D D 0.661 6.611 0.676 7.326 1.000 0.554 0.574 0.602 0.613 . 5.550 5.550 7.871 0.877 0.549 1.000 0.864 0.846 888 C2_domain . . ID=COSV53462859;OCCURENCE=1(large_intestine) RIMS1 299 0 318 28 0.0809248554913295 TRUE NA ENSG00000188994.13 . BCM GRCh38.p13 chr6 87260895 87260897 + TCT TCT - In_Frame_Del DEL ENST00000369577.8 exon8 c.7266_7268del p.L2424del exonic ENSG00000188994.13 . nonframeshift deletion ENSG00000188994.13:ENST00000369577.8:exon8:c.7266_7268del:p.L2424del 6q14.3 C3L-03123 2.979e-05 0 0 0 0.0002 3.586e-05 0 0 rs756631142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF292 213 0 215 23 0.0966386554621849 TRUE TRUE ENSG00000164414.18 . BCM GRCh38.p13 chr6 87509115 87509115 + G G A Missense_Mutation SNP ENST00000369552.9 exon7 c.G826A p.A276T exonic ENSG00000164414.18 . nonsynonymous SNV ENSG00000164414.18:ENST00000369552.9:exon7:c.G826A:p.A276T 6q15 C3L-03123 . . . . . . . . . 5.20 T T P P U D N T N 0.855 T T T 0.277 0.625 0.354 0.373 T T T T D D 2.951 23.300 0.905 D D 0.073 2.781 0.271 3.554 1.000 0.707 0.725 0.576 0.714 . 5.300 5.300 9.516 1.176 0.618 1.000 0.998 0.996 809 . . . . SLC35A1 618 0 626 83 0.117066290550071 TRUE TRUE ENSG00000178409.13 . BCM GRCh38.p13 chr6 107070128 107070128 + C C T Missense_Mutation SNP ENST00000429433.3 exon5 c.G1063A p.A355T exonic ENSG00000178409.13 . nonsynonymous SNV ENSG00000178409.13:ENST00000429433.3:exon5:c.G1063A:p.A355T 6q21 C3L-03123 6.833e-05 0 0 0.0006 0 3.138e-05 0 6.075e-05 rs199991434 0.19 T T B B N N N . N 0.011 T T T 0.034 . 0.150 0.478 T T T T T T -0.961 0.010 0.757 N N -1.733 0.032 -1.806 0.033 1.000 0.707 0.546 0.725 0.528 . 5.110 -10.200 -0.908 -1.402 -1.091 0.000 0.042 0.053 634 . . . . BEND3 347 0 421 46 0.0985010706638116 TRUE NA ENSG00000203797.11 . BCM GRCh38.p13 chr6 110392872 110392872 + C C - Frame_Shift_Del DEL ENST00000368924.8 exon5 c.1013delG p.G338Afs*16 exonic ENSG00000203797.11 . frameshift deletion ENSG00000203797.11:ENST00000368924.8:exon5:c.1013delG:p.G338Afs*16 6q21 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DDO 179 0 203 28 0.121212121212121 TRUE NA ENSG00000112769.20 . BCM GRCh38.p13 chr6 112132797 112132797 + G G A Nonsense_Mutation SNP ENST00000230538.12 exon28 c.C3790T p.R1264X exonic ENSG00000112769.20 . stopgain ENSG00000112769.20:ENST00000230538.12:exon28:c.C3790T:p.R1264X 6q21 C3L-03123 . . . . . . . . . 5.6 . . . . D A . . . 0.956 . . . . . . . . . D D . . 8.529 43 0.998 D N 0.947 12.338 0.847 11.647 1.000 0.672 0.574 0.574 0.711 . 6.070 6.070 5.555 1.176 0.676 1.000 1.000 0.993 669 Laminin_G_domain . . ID=COSV57899815;OCCURENCE=1(biliary_tract) LAMA4 303 0 337 34 0.091644204851752 TRUE TRUE ENSG00000111875.8 . BCM GRCh38.p13 chr6 118907486 118907486 + G G A Missense_Mutation SNP ENST00000229595.6 exon4 c.G487A p.A163T exonic ENSG00000111875.8 . nonsynonymous SNV ENSG00000111875.8:ENST00000229595.6:exon4:c.G487A:p.A163T 6q22.31 C3L-03123 . . . . . . . . . 3.19 T T B B D D N . N 0.054 T T T 0.062 0.137 0.266 0.819 T T T T T T 1.891 18.420 0.860 D N -0.529 1.120 -0.270 1.628 0.999 0.707 0.725 0.725 0.714 . 5.910 5.050 1.963 -0.127 -0.119 1.000 0.998 0.997 488 . . . . ASF1A 301 0 378 23 0.057356608478803 TRUE TRUE ENSG00000111961.18 . BCM GRCh38.p13 chr6 148546090 148546090 + G G A Missense_Mutation SNP ENST00000367467.8 exon19 c.G3424A p.A1142T exonic ENSG00000111961.18 . nonsynonymous SNV ENSG00000111961.18:ENST00000367467.8:exon19:c.G3424A:p.A1142T 6q25.1 C3L-03123 4.127e-05 0 0.0004 0 0 0 0 0 rs769622545 10.20 D D D B D D N T N 0.933 T T T 0.281 0.144 0.656 0.636 T T T D D D 3.170 23.800 0.999 D D 0.450 4.669 0.528 5.420 1.000 0.732 0.610 0.744 0.711 . 5.460 5.460 7.540 1.083 0.676 1.000 0.978 0.952 958 . . . ID=COSV66562621;OCCURENCE=1(large_intestine) SASH1 237 1 318 17 0.0507462686567164 TRUE NA ENSG00000131023.13 . BCM GRCh38.p13 chr6 149680118 149680118 + A A G Missense_Mutation SNP ENST00000543571.6 exon5 c.T2350C p.Y784H exonic ENSG00000131023.13 . nonsynonymous SNV ENSG00000131023.13:ENST00000543571.6:exon5:c.T2350C:p.Y784H 6q25.1 C3L-03123 . . . . . . . . . 16.20 D D D D D D M T D 0.927 T T D 0.666 0.908 0.884 2.026 D T D D D D 4.114 27.900 0.999 D D 0.767 8.169 0.761 9.064 1.000 0.707 0.654 0.659 0.714 . 5.500 5.500 9.325 1.308 0.756 1.000 1.000 0.997 416 Protein_kinase_domain . . . LATS1 129 0 136 12 0.0810810810810811 TRUE TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152463478 152463478 + T T C Missense_Mutation SNP ENST00000367255.10 exon19 c.A1972G p.T658A exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon19:c.A1972G:p.T658A 6q25.2 C3L-03123 . . . . . . . . . 1.20 T T B B N N N T N 0.129 T T T 0.029 0.259 0.130 0.130 T T T T T T 1.339 14.670 0.543 D N -1.109 0.298 -1.009 0.477 1.000 0.554 0.590 0.618 0.613 . 5.560 -3.000 1.792 -0.150 -0.164 1.000 0.742 0.964 699 . . . . SYNE1 466 0 520 34 0.0613718411552347 TRUE TRUE ENSG00000130338.13 . BCM GRCh38.p13 chr6 158502352 158502352 + G G A Missense_Mutation SNP ENST00000367097.8 exon13 c.G2689A p.V897M exonic ENSG00000130338.13 . nonsynonymous SNV ENSG00000130338.13:ENST00000367097.8:exon13:c.G2689A:p.V897M 6q25.3 C3L-03123 8.327e-06 0 0 0 0 1.52e-05 0 0 rs770190031 14.20 D T D D D D M T N 0.776 T T D 0.362 0.222 0.610 0.852 D T D D D D 3.758 25.600 0.999 D D 0.815 9.087 0.792 9.877 1.000 0.646 0.654 0.645 0.636 . 5.120 5.120 9.013 1.075 0.672 1.000 0.960 0.924 693 . . . . TULP4 300 0 351 21 0.0564516129032258 TRUE NA ENSG00000130338.13 . BCM GRCh38.p13 chr6 158502496 158502496 + C C T Missense_Mutation SNP ENST00000367097.8 exon13 c.C2833T p.R945C exonic ENSG00000130338.13 . nonsynonymous SNV ENSG00000130338.13:ENST00000367097.8:exon13:c.C2833T:p.R945C 6q25.3 C3L-03123 4.975e-05 0 0 0 0 7.555e-05 0 6.058e-05 rs367875154 14.20 D D D D D D M T D 0.829 T T D 0.461 . 0.362 1.001 D T D D T D 3.822 25.900 0.999 D N 0.559 5.527 0.514 5.290 0.735 0.646 0.546 0.645 0.636 . 4.490 4.490 2.031 0.940 0.596 1.000 0.988 0.999 693 . . . ID=COSV65582646;OCCURENCE=1(biliary_tract) TULP4 249 0 310 23 0.0690690690690691 TRUE TRUE ENSG00000106012.18 . BCM GRCh38.p13 chr7 2578266 2578266 + G G A Missense_Mutation SNP ENST00000402050.7 exon7 c.G490A p.V164M exonic ENSG00000106012.18 . nonsynonymous SNV ENSG00000106012.18:ENST00000402050.7:exon7:c.G490A:p.V164M 7p22.3 C3L-03123 9.138e-05 0 0 0 0 0.0002 0 0 rs749622221 3.20 T T D D N N L T N 0.219 T T T 0.037 0.274 0.194 0.251 T T T T T T 1.459 15.470 0.997 D N 0.128 3.000 -0.023 2.282 0.100 0.646 0.602 0.645 0.636 . 5.500 3.680 1.741 -0.124 -0.113 0.966 0.240 0.112 873 . . . ID=COSV100383649;OCCURENCE=1(endometrium) IQCE 351 0 412 45 0.0984682713347921 TRUE NA ENSG00000106346.11 . BCM GRCh38.p13 chr7 6139110 6139110 + G G A Missense_Mutation SNP ENST00000306177.9 exon5 c.G572A p.R191H exonic ENSG00000106346.11 . nonsynonymous SNV ENSG00000106346.11:ENST00000306177.9:exon5:c.G572A:p.R191H 7p22.1 C3L-03123 1.369e-05 0 0 0 0 2.556e-05 0 0 rs763773392 9.20 T T P B D D L T D 0.126 T T T 0.289 0.559 0.416 1.648 T T D D D D 2.830 23.100 0.998 D D 0.540 5.362 0.587 6.060 1.000 0.651 0.654 0.651 0.636 . 5.440 5.440 5.419 1.155 0.676 1.000 0.994 0.998 646 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . ID=COSV60362082;OCCURENCE=1(large_intestine) USP42 205 0 228 24 0.0952380952380952 TRUE TRUE ENSG00000105877.18 . BCM GRCh38.p13 chr7 21773803 21773803 + A A G Missense_Mutation SNP ENST00000409508.8 exon56 c.A9140G p.H3047R exonic ENSG00000105877.18 . nonsynonymous SNV ENSG00000105877.18:ENST00000409508.8:exon56:c.A9140G:p.H3047R 7p15.3 C3L-03123 . . . . . . . . . 6.16 D . . . N N . T D 0.592 T T D 0.203 0.487 0.391 . T T T T D D 2.680 22.800 0.983 D N 0.192 3.266 0.165 3.019 0.778 0.554 0.590 0.602 0.542 . 5.730 4.470 3.808 1.311 0.756 0.860 0.353 0.203 829 Dynein_heavy_chain,_AAA_module_D4 . . . DNAH11 155 0 172 21 0.10880829015544 TRUE TRUE ENSG00000105996.7 . BCM GRCh38.p13 chr7 27102321 27102321 + G G T Missense_Mutation SNP ENST00000222718.7 exon1 c.C180A p.N60K exonic ENSG00000105996.7 . nonsynonymous SNV ENSG00000105996.7:ENST00000222718.7:exon1:c.C180A:p.N60K 7p15.2 C3L-03123 . . . . . . . . . 11.20 T T P P D D M D N 0.494 D D D 0.569 0.312 0.972 1.502 D T T T D T 2.813 23.000 0.997 D D 0.522 5.210 0.518 5.328 1.000 0.598 0.590 0.596 0.492 . 5.350 5.350 1.046 0.227 -0.161 1.000 1.000 0.988 436 . . . . HOXA2 460 0 481 70 0.127041742286751 TRUE TRUE ENSG00000106571.14 . BCM GRCh38.p13 chr7 41965523 41965523 + C C T Missense_Mutation SNP ENST00000395925.8 exon15 c.G3550A p.A1184T exonic ENSG00000106571.14 . nonsynonymous SNV ENSG00000106571.14:ENST00000395925.8:exon15:c.G3550A:p.A1184T 7p14.1 C3L-03123 . . . . . . . . . 1.20 T T B B N N N T N 0.038 T T D 0.033 0.181 0.206 0.281 T T T T T T -1.366 0.001 0.894 N N -1.601 0.055 -1.741 0.043 1.000 0.719 0.574 0.723 0.492 . 5.350 -10.700 -3.579 -0.854 -0.233 0.000 0.000 0.001 938 . . . ID=COSV67890876;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) GLI3 138 0 171 21 0.109375 TRUE TRUE ENSG00000164659.15 . BCM GRCh38.p13 chr7 86926771 86926771 + G G T Missense_Mutation SNP ENST00000450689.7 exon9 c.C1235A p.P412H exonic ENSG00000164659.15 . nonsynonymous SNV ENSG00000164659.15:ENST00000450689.7:exon9:c.C1235A:p.P412H 7q21.12 C3L-03123 . . . . . . . . . 14.20 D D D D D D M T D 0.813 T T D 0.341 0.449 0.447 0.888 T T D T D D 4.078 27.600 0.997 D D 0.774 8.302 0.756 8.949 1.000 0.778 0.567 0.780 0.826 . 5.530 5.530 8.120 1.176 0.676 1.000 1.000 0.990 587 Tyrosine-protein_kinase_ephrin_type_A/B_receptor-like . . . KIAA1324L 119 0 134 11 0.0758620689655172 TRUE TRUE ENSG00000085563.15 . BCM GRCh38.p13 chr7 87544903 87544903 + G G C Missense_Mutation SNP ENST00000622132.5 exon16 c.C1984G p.L662V exonic ENSG00000085563.15 . nonsynonymous SNV ENSG00000085563.15:ENST00000622132.5:exon16:c.C1984G:p.L662V 7q21.12 C3L-03123 . . . . . . . . . 2.19 T T B B N N M D N 0.136 T T T 0.297 0.251 0.600 0.211 T . T T T T 1.365 14.840 0.991 N N -0.500 1.177 -0.390 1.391 0.000 0.554 0.588 0.574 0.621 . 5.420 1.230 0.219 0.222 0.676 0.633 0.998 0.996 499 . . . . ABCB1 309 0 384 46 0.106976744186047 TRUE TRUE ENSG00000157240.4 . BCM GRCh38.p13 chr7 91266784 91266784 + C C T Missense_Mutation SNP ENST00000287934.4 exon1 c.C1904T p.T635M exonic ENSG00000157240.4 . nonsynonymous SNV ENSG00000157240.4:ENST00000287934.4:exon1:c.C1904T:p.T635M 7q21.13 C3L-03123 . . . . . . . . . 8.20 T T P B D D L D N 0.422 T T D 0.442 0.371 0.905 . T T T T D D 2.709 22.800 0.984 D D 0.095 2.868 0.197 3.168 1.000 0.624 0.627 0.504 0.580 . 4.890 4.890 2.023 1.022 0.596 0.998 0.989 0.971 603 Frizzled/Smoothened,_transmembrane_domain . . . FZD1 74 0 114 14 0.109375 TRUE TRUE ENSG00000001629.10 . BCM GRCh38.p13 chr7 92307411 92307411 + A A C Missense_Mutation SNP ENST00000265742.8 exon3 c.A241C p.T81P exonic ENSG00000001629.10 . nonsynonymous SNV ENSG00000001629.10:ENST00000265742.8:exon3:c.A241C:p.T81P 7q21.2 C3L-03123 . . . . . . . . . 14.20 D D D D D D L T D 0.729 T T D 0.819 0.798 0.952 1.967 T T D D D D 3.956 26.700 0.996 D D 0.657 6.562 0.692 7.600 1.000 0.706 0.725 0.710 0.613 . 5.440 5.440 8.910 1.311 0.689 1.000 1.000 0.999 508 Ankyrin_repeat-containing_domain . . . ANKIB1 296 1 260 36 0.121621621621622 TRUE TRUE ENSG00000242950.7 . BCM GRCh38.p13 chr7 92470306 92470306 + G G A Missense_Mutation SNP ENST00000603053.2 exon2 c.C76T p.R26C exonic ENSG00000242950.7 . nonsynonymous SNV ENSG00000242950.7:ENST00000603053.2:exon2:c.C76T:p.R26C 7q21.2 C3L-03123 0.0013 0.0016 8.684e-05 0 0.0005 0.0019 0.0012 0 rs138779740 0.16 T T . . . N . T N 0.184 T T T 0.053 . 0.150 0.450 T T T T T T 1.438 15.340 0.957 N N -0.652 0.896 -0.752 0.826 0.000 0.487 0.547 0.547 0.564 . 0.046 0.046 0.171 0.170 0.171 0.773 0.638 0.655 616 . . . ID=COSV71259637;OCCURENCE=1(large_intestine) ERVW-1 75 0 84 10 0.106382978723404 NA TRUE ENSG00000106351.13 . BCM GRCh38.p13 chr7 100562667 100562667 + G G T Missense_Mutation SNP ENST00000300176.9 exon8 c.G1072T p.G358W exonic ENSG00000106351.13 . nonsynonymous SNV ENSG00000106351.13:ENST00000300176.9:exon8:c.G1072T:p.G358W 7q22.1 C3L-03123 . . . . . . . . . 6.20 D D D D N N M T N 0.667 T T T 0.131 0.384 0.271 1.073 T T T T D T 3.330 24.200 0.995 N N -0.226 1.805 -0.309 1.546 0.997 0.672 0.702 0.490 0.636 . 5.000 3.200 1.113 1.176 0.676 0.013 0.962 0.965 . . . . . AGFG2 164 0 195 23 0.105504587155963 TRUE TRUE ENSG00000087087.20 . BCM GRCh38.p13 chr7 100884111 100884111 + G G T Missense_Mutation SNP ENST00000611405.5 exon6 c.G629T p.R210L exonic ENSG00000087087.20 . nonsynonymous SNV ENSG00000087087.20:ENST00000611405.5:exon6:c.G629T:p.R210L 7q22.1 C3L-03123 8.248e-06 0 0 0 0 1.501e-05 0 0 rs777364262 7.17 . T P B D D L . . 0.608 T T T 0.152 0.400 0.043 . T D T T D D 2.855 23.100 0.991 D D -0.023 2.431 0.059 2.571 1.000 0.672 0.698 0.702 0.711 . 3.900 3.000 3.179 1.176 0.618 1.000 1.000 0.995 692 SERRATE/Ars2,_N-terminal . . . SRRT 148 0 179 21 0.105 TRUE NA ENSG00000169871.13 . BCM GRCh38.p13 chr7 101088412 101088412 + G G A Missense_Mutation SNP ENST00000306085.11 exon3 c.G1100A p.R367Q exonic ENSG00000169871.13 . nonsynonymous SNV ENSG00000169871.13:ENST00000306085.11:exon3:c.G1100A:p.R367Q 7q22.1 C3L-03123 4.716e-05 0 0 0 0 8.372e-05 0 0 rs763535074 0.19 T T B B . N N T N 0.030 T T T 0.037 0.427 0.245 0.594 T T T T T T -0.109 0.794 0.642 N N -1.635 0.048 -1.627 0.068 1.000 0.632 0.698 0.723 0.636 . 3.460 0.095 -0.643 0.226 -0.109 0.000 0.482 0.711 840 . . . . TRIM56 100 0 97 12 0.110091743119266 TRUE NA ENSG00000160999.10 . BCM GRCh38.p13 chr7 102301173 102301173 + C C T Missense_Mutation SNP ENST00000536178.3 exon2 c.C752T p.A251V exonic ENSG00000160999.10 . nonsynonymous SNV ENSG00000160999.10:ENST00000536178.3:exon2:c.C752T:p.A251V 7q22.1 C3L-03123 . . . . . . . . . 7.15 D D . . N . . T N 0.260 T T D 0.078 0.395 0.639 0.287 D . T T D T 2.113 20.200 0.997 D D 0.071 2.772 0.087 2.681 1.000 0.789 0.702 0.768 0.767 . 3.370 3.370 4.500 0.896 0.450 0.991 0.623 0.293 759 . . . ID=COSV60825846;OCCURENCE=1(breast),1(large_intestine) SH2B2 256 0 307 34 0.0997067448680352 TRUE TRUE ENSG00000001626.16 . BCM GRCh38.p13 chr7 117603579 117603579 + G G A Missense_Mutation SNP ENST00000003084.11 exon17 c.G2705A p.S902N exonic ENSG00000001626.16 . nonsynonymous SNV ENSG00000001626.16:ENST00000003084.11:exon17:c.G2705A:p.S902N 7q31.2 C3L-03123 . . . . . . . . . 3.20 T T B B N N L D N 0.195 T D D 0.235 0.601 0.953 0.004 T T T T T T 0.686 8.325 0.956 N N -0.768 0.703 -0.780 0.786 0.204 0.615 0.574 0.659 0.564 . 5.820 2.690 0.203 0.169 0.618 0.001 0.283 0.576 852 ABC_transporter_type_1,_transmembrane_domain . . . CFTR 455 0 468 51 0.0982658959537572 TRUE TRUE ENSG00000230626.4 . BCM GRCh38.p13 chr7 129127329 129127329 + C C T Missense_Mutation SNP ENST00000467614.2 exon1 c.C812T p.A271V exonic ENSG00000230626.4 . nonsynonymous SNV ENSG00000230626.4:ENST00000467614.2:exon1:c.C812T:p.A271V 7q32.1 C3L-03123 . . . . . . . . . 2.2 . . . . . . . . . . . . . . . . . . . . . . D 1.263 14.110 0.871 D . . . . . 0.008 0.096 0.097 0.105 0.091 0.610 2.170 1.250 5.624 0.152 0.394 1.000 0.090 0.217 448 . . . . AC011005.1 554 1 578 71 0.10939907550077 NA TRUE ENSG00000158525.15 . BCM GRCh38.p13 chr7 130362909 130362909 + G G A Missense_Mutation SNP ENST00000485477.5 exon8 c.G662A p.R221H exonic ENSG00000158525.15 . nonsynonymous SNV ENSG00000158525.15:ENST00000485477.5:exon8:c.G662A:p.R221H 7q32.2 C3L-03123 . . . . . . . . rs530926535 0.20 T T B B N N L T N 0.193 T T T 0.014 . 0.136 0.219 T T T T T T -0.179 0.565 0.889 N N -2.105 0.005 -2.201 0.005 1.000 0.554 0.588 0.547 0.613 . 5.490 -11.000 -0.161 -1.643 -1.715 0.000 0.001 0.098 622 Peptidase_M14,_carboxypeptidase_A . . ID=COSV62570788;OCCURENCE=1(upper_aerodigestive_tract) CPA5 155 0 172 20 0.104166666666667 TRUE TRUE ENSG00000013374.16 . BCM GRCh38.p13 chr7 151351478 151351478 + T T C Missense_Mutation SNP ENST00000470229.6 exon4 c.T340C p.S114P exonic ENSG00000013374.16 . nonsynonymous SNV ENSG00000013374.16:ENST00000470229.6:exon4:c.T340C:p.S114P 7q36.1 C3L-03123 . . . . . . . . . 6.20 D D P B N D L T N 0.664 T T D 0.164 0.378 0.442 0.787 T T T T D T 2.805 23.000 0.997 D N 0.090 2.848 0.059 2.571 1.000 0.731 0.750 0.636 0.714 . 5.430 2.850 0.797 1.138 0.665 0.993 0.986 0.994 946 . . . . NUB1 114 0 154 17 0.0994152046783626 NA TRUE ENSG00000180190.11 . BCM GRCh38.p13 chr8 492446 492446 + G G A Missense_Mutation SNP ENST00000613071.1 exon4 c.C511T p.R171W exonic ENSG00000180190.11 . nonsynonymous SNV ENSG00000180190.11:ENST00000613071.1:exon4:c.C511T:p.R171W 8p23.3 C3L-03123 1.157e-05 0 0 0 0 2.004e-05 0 0 rs773185041 14.18 D D D D D D M . D 0.811 T T D 0.392 0.509 0.260 . . T D D D D 1.467 15.530 0.998 D N 0.068 2.762 -0.058 2.170 0.585 0.719 0.547 0.723 0.621 . 6.080 4.240 3.517 0.155 -0.154 0.991 0.017 0.011 958 . . . ID=COSV100138523;OCCURENCE=1(biliary_tract) TDRP 140 0 153 23 0.130681818181818 TRUE NA ENSG00000236125.3 . BCM GRCh38.p13 chr8 7338091 7338091 + C C T Missense_Mutation SNP ENST00000526929.1 exon1 c.C977T p.A326V exonic ENSG00000236125.3 . nonsynonymous SNV ENSG00000236125.3:ENST00000526929.1:exon1:c.C977T:p.A326V 8p23.1 C3L-03123 . . . . . . . . . 0.8 . T . . . . N . . 0.161 . . . . . 0.076 . T T T T . T 0.866 10.080 0.757 N . . . . . 0.000 0.061 0.063 0.063 0.057 0.082 0.488 0.488 1.601 0.467 0.405 0.207 0.016 0.026 994 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP17L4 841 0 846 102 0.107594936708861 NA TRUE ENSG00000183638.6 . BCM GRCh38.p13 chr8 10610941 10610941 + C C T Missense_Mutation SNP ENST00000382483.4 exon4 c.G3157A p.E1053K exonic ENSG00000183638.6 . nonsynonymous SNV ENSG00000183638.6:ENST00000382483.4:exon4:c.G3157A:p.E1053K 8p23.1 C3L-03123 0.0002 0.0024 0 0 0 1.774e-05 0 0.0003 rs139223185 1.18 T T . . N N N T N 0.091 T T D 0.072 . 0.099 . T T T T T T -0.191 0.534 0.944 N N -1.169 0.249 -1.236 0.254 0.000 0.487 0.574 0.578 0.563 . 4.600 -2.930 -0.322 -0.950 -0.259 0.000 0.000 0.000 793 . . . ID=COSV66755946;OCCURENCE=1(large_intestine) RP1L1 333 0 346 37 0.0966057441253264 TRUE TRUE ENSG00000003989.18 . BCM GRCh38.p13 chr8 17562031 17562031 + C C T Missense_Mutation SNP ENST00000494857.6 exon11 c.C1592T p.A531V exonic ENSG00000003989.18 . nonsynonymous SNV ENSG00000003989.18:ENST00000494857.6:exon11:c.C1592T:p.A531V 8p22 C3L-03123 4.119e-05 0 0 0 0 7.493e-05 0 0 rs772998799 1.20 T T B B N N N D N 0.087 T T T 0.174 0.323 0.564 0.021 T T T T T T -0.472 0.136 0.291 N N -1.424 0.107 -1.437 0.134 0.928 0.732 0.574 0.744 0.714 . 4.830 -2.740 0.687 -3.265 -1.584 0.006 0.000 0.015 840 . . . ID=COSV50262885;OCCURENCE=1(large_intestine),1(endometrium) SLC7A2 325 1 416 37 0.0816777041942605 TRUE TRUE ENSG00000104613.12 . BCM GRCh38.p13 chr8 19832058 19832058 + C C T Missense_Mutation SNP ENST00000397977.8 exon11 c.C1325T p.T442M exonic ENSG00000104613.12 . nonsynonymous SNV ENSG00000104613.12:ENST00000397977.8:exon11:c.C1325T:p.T442M 8p21.3 C3L-03123 7.454e-05 0 0 0 0.0003 0.0001 0 0 rs200006596 12.19 D D D D D D M . N 0.774 T T T 0.353 0.653 0.384 0.541 T T D D T D 3.405 24.400 0.999 D D 0.773 8.284 0.797 10.023 1.000 0.707 0.725 0.725 0.714 . 5.820 5.820 7.459 1.008 0.599 1.000 0.997 0.967 865 . . . . INTS10 298 0 341 36 0.0954907161803713 TRUE NA ENSG00000167034.10 . BCM GRCh38.p13 chr8 23681400 23681400 + G G A Missense_Mutation SNP ENST00000380871.5 exon2 c.C526T p.R176C exonic ENSG00000167034.10 . nonsynonymous SNV ENSG00000167034.10:ENST00000380871.5:exon2:c.C526T:p.R176C 8p21.2 C3L-03123 . . . . . . . . . 20.20 D D D D D D H D D 0.890 D D D 0.894 0.933 0.992 0.920 D D D D D D 4.405 31 0.999 D D 1.015 14.409 0.903 13.882 1.000 0.443 0.590 0.666 0.530 . 5.660 5.660 2.712 1.176 0.676 1.000 1.000 0.997 783 Homeobox_domain,_metazoa;Homeobox,_conserved_site;Homeobox_domain . . ID=COSV66512049;OCCURENCE=1(liver),3(large_intestine),1(biliary_tract) NKX3-1 320 0 445 36 0.0748440748440748 TRUE TRUE ENSG00000104228.13 . BCM GRCh38.p13 chr8 27287831 27287831 + G G A Missense_Mutation SNP ENST00000305364.9 exon6 c.C1201T p.R401C exonic ENSG00000104228.13 . nonsynonymous SNV ENSG00000104228.13:ENST00000305364.9:exon6:c.C1201T:p.R401C 8p21.2 C3L-03123 9.76e-06 0 0 0 0 1.756e-05 0 0 rs377763568 10.20 T T D D D D L T N 0.334 T T D 0.365 . 0.831 1.487 T T D D D T 4.371 31 0.999 D D 0.667 6.681 0.657 7.021 1.000 0.732 0.702 0.744 0.714 . 5.550 5.550 3.298 1.101 0.590 1.000 0.999 0.915 635 0.000 . . ID=COSV59523637;OCCURENCE=1(oesophagus) TRIM35 316 2 370 42 0.101941747572816 TRUE TRUE ENSG00000169499.15 . BCM GRCh38.p13 chr8 38969509 38969509 + G G A Missense_Mutation SNP ENST00000617275.5 exon12 c.G1004A p.R335Q exonic ENSG00000169499.15 . nonsynonymous SNV ENSG00000169499.15:ENST00000617275.5:exon12:c.G1004A:p.R335Q 8p11.22 C3L-03123 1.801e-05 0 0 0 0 3.255e-05 0 0 rs376761444 5.16 . T D B N D . . . 0.373 T T T 0.106 . 0.356 . T T T T T D 2.940 23.300 0.995 D D 0.277 3.664 0.316 3.813 1.000 0.707 0.725 0.602 0.568 . 5.910 5.910 3.629 1.176 0.676 1.000 0.205 0.525 636 . . . ID=COSV56760240;OCCURENCE=2(biliary_tract) PLEKHA2 576 0 657 71 0.0975274725274725 TRUE NA ENSG00000171316.12 . BCM GRCh38.p13 chr8 60852139 60852139 + T T C Missense_Mutation SNP ENST00000423902.7 exon29 c.T5786C p.M1929T exonic ENSG00000171316.12 . nonsynonymous SNV ENSG00000171316.12:ENST00000423902.7:exon29:c.T5786C:p.M1929T 8q12.2 C3L-03123 . . . . . . . . . 10.20 T T B B D D N D N 0.738 T T D 0.453 0.227 0.897 0.889 D T D T D D 2.537 22.500 0.902 D D 0.005 2.528 0.190 3.136 1.000 0.707 0.725 0.725 0.655 . 5.380 5.380 4.974 1.138 0.665 1.000 1.000 1.000 810 . . . . CHD7 384 0 450 44 0.0890688259109312 TRUE NA ENSG00000147647.13 . BCM GRCh38.p13 chr8 104381266 104381266 + C C T Missense_Mutation SNP ENST00000351513.7 exon9 c.G1492A p.A498T exonic ENSG00000147647.13 . nonsynonymous SNV ENSG00000147647.13:ENST00000351513.7:exon9:c.G1492A:p.A498T 8q22.3 C3L-03123 5.766e-05 0.0004 8.64e-05 0 0 0 0 0.0001 rs368932527 4.20 T T B B N N N D N 0.084 D D D 0.269 . 0.723 0.135 T T T T T T -0.333 0.266 0.786 N N -1.428 0.106 -1.453 0.127 0.029 0.554 0.547 0.602 0.564 . 5.850 -2.600 -1.787 -1.209 -1.150 0.000 0.027 0.183 581 . . . ID=COSV60907211;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(prostate) DPYS 509 0 492 70 0.124555160142349 TRUE TRUE ENSG00000205038.12 . BCM GRCh38.p13 chr8 109510903 109510903 + G G A Missense_Mutation SNP ENST00000378402.10 exon71 c.G11522A p.R3841Q exonic ENSG00000205038.12 . nonsynonymous SNV ENSG00000205038.12:ENST00000378402.10:exon71:c.G11522A:p.R3841Q 8q23.2 C3L-03123 8.317e-06 0 0 0 0 1.503e-05 0 0 rs751619314 17.20 D D D P D D M D D 0.714 D D D 0.557 0.581 0.479 0.246 T T D D D D 4.015 27.100 1.000 D D 0.717 7.361 0.685 7.483 0.999 0.554 0.574 0.618 0.621 . 5.770 4.890 6.621 1.176 0.676 1.000 1.000 0.981 604 . . . . PKHD1L1 223 0 249 35 0.123239436619718 TRUE NA ENSG00000180938.6 . BCM GRCh38.p13 chr8 124976420 124976420 + C C A Missense_Mutation SNP ENST00000319286.6 exon3 c.C152A p.P51H exonic ENSG00000180938.6 . nonsynonymous SNV ENSG00000180938.6:ENST00000319286.6:exon3:c.C152A:p.P51H 8q24.13 C3L-03123 . . . . . . . . . 1.20 D T B B N N N T N 0.086 T T T 0.026 0.285 0.122 0.130 T T T T T T 0.378 5.176 0.926 N N -1.024 0.379 -1.080 0.397 1.000 0.581 0.588 0.565 0.568 . 4.730 -1.750 -0.494 -0.708 -0.171 0.000 0.355 0.318 863 . . . . ZNF572 158 0 175 20 0.102564102564103 TRUE TRUE ENSG00000180921.7 . BCM GRCh38.p13 chr8 143728175 143728175 + A A C Missense_Mutation SNP ENST00000388913.4 exon5 c.T1286G p.V429G exonic ENSG00000180921.7 . nonsynonymous SNV ENSG00000180921.7:ENST00000388913.4:exon5:c.T1286G:p.V429G 8q24.3 C3L-03123 0.0011 0.0026 0 0 0.0057 0.0011 0 0 rs201186432 5.19 D D B B N D L T D 0.205 T T D 0.208 . 0.249 0.442 T T T T T . 2.088 19.920 0.963 N N -0.572 1.039 -0.476 1.241 0.999 0.718 0.634 0.571 0.563 . 4.960 3.780 0.513 1.159 0.714 0.108 0.967 0.053 884 . . . . FAM83H 494 1 535 79 0.128664495114007 TRUE TRUE ENSG00000179698.14 . BCM GRCh38.p13 chr8 144115434 144115434 + G G A Missense_Mutation SNP ENST00000323662.9 exon22 c.G4171A p.G1391R exonic ENSG00000179698.14 . nonsynonymous SNV ENSG00000179698.14:ENST00000323662.9:exon22:c.G4171A:p.G1391R 8q24.3 C3L-03123 . . . . . . . . . 1.18 T T B B . N . T N 0.079 T T D 0.014 0.309 0.312 . T T T T T T -0.518 0.109 0.326 N N -1.550 0.067 -1.683 0.055 0.999 0.581 0.547 0.578 0.605 . 1.710 -3.410 -1.303 -1.242 -1.458 0.000 0.000 0.000 970 . . . . WDR97 163 0 196 18 0.0841121495327103 TRUE NA ENSG00000107036.12 . BCM GRCh38.p13 chr9 5689960 5689960 + C C T Missense_Mutation SNP ENST00000414202.7 exon3 c.C254T p.T85M exonic ENSG00000107036.12 . nonsynonymous SNV ENSG00000107036.12:ENST00000414202.7:exon3:c.C254T:p.T85M 9p24.1 C3L-03123 1.657e-05 0 0 0.0001 0 1.507e-05 0 0 rs747029814 14.20 D D D P D D L T D 0.957 D T D 0.478 0.547 0.235 . T T D D D D 4.310 29.700 0.998 D D 0.614 6.069 0.628 6.594 1.000 0.706 0.710 0.659 0.613 . 5.310 5.310 5.459 0.934 0.599 1.000 0.962 0.979 579 . . . . RIC1 146 1 117 12 0.0930232558139535 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971106 21971106 + C C T Missense_Mutation SNP ENST00000304494.9 exon2 c.G253A p.A85T exonic ENSG00000147889.17 . nonsynonymous SNV ENSG00000147889.17:ENST00000304494.9:exon2:c.G253A:p.A85T 9p21.3 C3L-03123 . . . . . . . . rs878853646 15.18 D D D D . D . T D 0.875 D D D 0.834 0.816 0.957 1.189 T T D D D D 4.431 31 0.999 D D 0.733 7.608 0.773 9.366 1.000 0.677 0.383 0.607 0.601 . 5.930 5.930 7.307 1.026 0.599 1.000 0.980 0.979 900 Ankyrin_repeat-containing_domain . . ID=COSV58684450;OCCURENCE=1(large_intestine),1(central_nervous_system) CDKN2A 1086 0 929 153 0.141404805914972 NA TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21974733 21974733 + A A G Missense_Mutation SNP ENST00000304494.9 exon1 c.T95C p.L32P exonic ENSG00000147889.17 . nonsynonymous SNV ENSG00000147889.17:ENST00000304494.9:exon1:c.T95C:p.L32P 9p21.3 C3L-03123 . . . . . . . . rs878853650 15.18 D D D D . D . T D 0.858 D D D 0.804 0.741 0.969 1.566 T D D D D T 4.292 29.500 0.999 D D 0.924 11.692 0.777 9.484 1.000 0.455 0.609 0.607 0.568 . 4.890 4.890 4.468 1.312 0.756 0.998 0.407 0.906 893 Ankyrin_repeat-containing_domain . . ID=COSV58685103;OCCURENCE=1(oesophagus),1(pancreas) CDKN2A 375 0 414 69 0.142857142857143 TRUE TRUE ENSG00000122756.15 . BCM GRCh38.p13 chr9 34568939 34568939 + C C T Missense_Mutation SNP ENST00000378980.8 exon3 c.G43A p.A15T exonic ENSG00000122756.15 . nonsynonymous SNV ENSG00000122756.15:ENST00000378980.8:exon3:c.G43A:p.A15T 9p13.3 C3L-03123 . . . . . . . . rs369923771 7.19 T D D D D . M T N 0.467 T T T 0.135 0.518 0.449 0.377 T T T T D T 2.741 22.900 0.998 D N 0.457 4.716 0.436 4.622 1.000 0.609 0.596 0.769 0.639 . 4.830 4.830 2.532 0.126 0.599 0.997 0.011 0.445 400 . . . . CNTFR 391 2 577 58 0.0913385826771654 TRUE NA ENSG00000122705.17 . BCM GRCh38.p13 chr9 36211757 36211757 + G G A Missense_Mutation SNP ENST00000433436.6 exon7 c.G730A p.A244T exonic ENSG00000122705.17 . nonsynonymous SNV ENSG00000122705.17:ENST00000433436.6:exon7:c.G730A:p.A244T 9p13.3 C3L-03123 8.336e-06 0 0 0 0 1.51e-05 0 0 rs747907818 4.19 T T B B N D N . N 0.250 T T T 0.278 0.504 0.238 0.512 T T T T T D 1.827 17.930 0.869 D D -0.494 1.188 -0.237 1.701 1.000 0.707 0.725 0.702 0.723 . 5.790 3.950 1.926 1.176 0.676 1.000 1.000 0.998 410 . . . . CLTA 115 0 128 19 0.129251700680272 TRUE TRUE ENSG00000148053.16 . BCM GRCh38.p13 chr9 84707867 84707867 + C C T Missense_Mutation SNP ENST00000323115.9 exon4 c.C383T p.T128M exonic ENSG00000148053.16 . nonsynonymous SNV ENSG00000148053.16:ENST00000323115.9:exon4:c.C383T:p.T128M 9q21.33 C3L-03123 8.243e-06 0 0 0.0001 0 0 0 0 rs201256653 14.20 D D D D D D M T D 0.309 T T D 0.237 . 0.724 0.949 T T T D D D 3.506 24.700 0.999 D D 0.752 7.914 0.712 7.990 1.000 0.554 0.588 0.547 0.632 . 5.620 5.620 3.527 1.026 0.599 0.995 0.981 0.990 826 . . . ID=COSV52867961;OCCURENCE=1(large_intestine) NTRK2 199 0 275 28 0.0924092409240924 TRUE TRUE ENSG00000165025.15 . BCM GRCh38.p13 chr9 90844023 90844023 + G G A Missense_Mutation SNP ENST00000375754.9 exon2 c.G125A p.R42H exonic ENSG00000165025.15 . nonsynonymous SNV ENSG00000165025.15:ENST00000375754.9:exon2:c.G125A:p.R42H 9q22.2 C3L-03123 . . . . . . . . . 20.20 D D D D D D H D D 0.876 D D D 0.961 0.936 0.969 0.802 D D D D D D 4.400 31 1.000 D D 1.045 15.384 0.960 16.558 1.000 0.707 0.725 0.659 0.564 . 5.160 5.160 9.382 1.164 0.662 1.000 1.000 0.992 964 SH2_domain;SYK/ZAP-70,_N-terminal_SH2_domain . . ID=COSV65326552;OCCURENCE=1(oesophagus),1(prostate) SYK 120 0 140 14 0.0909090909090909 TRUE TRUE ENSG00000185963.14 . BCM GRCh38.p13 chr9 92720721 92720721 + C C T Missense_Mutation SNP ENST00000375512.3 exon4 c.G641A p.R214H exonic ENSG00000185963.14 . nonsynonymous SNV ENSG00000185963.14:ENST00000375512.3:exon4:c.G641A:p.R214H 9q22.31 C3L-03123 1.651e-05 0 0 0 0 1.502e-05 0 6.065e-05 rs373760993 14.20 T T D D D D M T D 0.731 T T D 0.397 . 0.712 1.665 T D D D D D 3.549 24.900 1.000 D D 0.748 7.854 0.720 8.146 1.000 0.722 0.699 0.725 0.714 . 5.490 5.490 6.071 1.026 0.599 1.000 0.999 0.993 976 . . . ID=COSV63547819;OCCURENCE=1(large_intestine) BICD2 315 1 306 48 0.135593220338983 TRUE TRUE ENSG00000197724.11 . BCM GRCh38.p13 chr9 93667105 93667105 + C C T Missense_Mutation SNP ENST00000359246.9 exon17 c.C2213T p.S738L exonic ENSG00000197724.11 . nonsynonymous SNV ENSG00000197724.11:ENST00000359246.9:exon17:c.C2213T:p.S738L 9q22.31 C3L-03123 7.516e-05 0 0 0.0001 0 0.0001 0 0 rs763214520 3.20 T T B B N D L T N 0.154 T T T 0.051 0.162 0.093 0.621 T T T T T D 1.963 18.980 0.995 D N -0.244 1.756 -0.091 2.071 1.000 0.732 0.744 0.723 0.728 . 4.990 4.990 4.625 1.012 0.531 1.000 0.197 0.134 958 . . . . PHF2 257 0 348 32 0.0842105263157895 TRUE NA ENSG00000106799.13 . BCM GRCh38.p13 chr9 99129073 99129073 + T T C Missense_Mutation SNP ENST00000374994.9 exon2 c.T316C p.C106R exonic ENSG00000106799.13 . nonsynonymous SNV ENSG00000106799.13:ENST00000374994.9:exon2:c.T316C:p.C106R 9q22.33 C3L-03123 . . . . . . . . . 19.20 D D D D D D M D D 0.988 D D D 0.906 0.957 0.990 1.935 T D D D D D 4.228 28.900 0.997 D D 0.865 10.178 0.839 11.376 1.000 0.757 0.858 0.710 0.613 . 6.080 6.080 7.358 1.138 0.609 1.000 1.000 0.999 514 Activin_types_I_and_II_receptor_domain . . . TGFBR1 336 0 355 38 0.0966921119592875 TRUE TRUE ENSG00000106799.13 . BCM GRCh38.p13 chr9 99142568 99142568 + T T C Missense_Mutation SNP ENST00000374994.9 exon5 c.T838C p.S280P exonic ENSG00000106799.13 . nonsynonymous SNV ENSG00000106799.13:ENST00000374994.9:exon5:c.T838C:p.S280P 9q22.33 C3L-03123 . . . . . . . . . 18.20 D D D D D D L D D 0.946 D D D 0.951 0.746 0.977 1.854 D T D D D D 4.269 29.300 0.999 D D 0.825 9.299 0.821 10.791 1.000 0.732 0.744 0.744 0.613 . 5.870 5.870 8.017 1.138 0.665 1.000 1.000 0.989 480 Protein_kinase_domain . . . TGFBR1 373 0 429 43 0.0911016949152542 TRUE TRUE ENSG00000066697.14 . BCM GRCh38.p13 chr9 100442101 100442101 + G G A Missense_Mutation SNP ENST00000613183.1 exon2 c.G163A p.E55K exonic ENSG00000066697.14 . nonsynonymous SNV ENSG00000066697.14:ENST00000613183.1:exon2:c.G163A:p.E55K 9q31.1 C3L-03123 . . . . . . . . . 11.18 D D P P . D L . N 0.770 T T T 0.237 0.664 0.189 1.232 D D D D D D 3.623 25.100 0.999 D D 0.458 4.725 0.513 5.278 1.000 0.745 0.634 0.710 0.762 . 5.800 5.800 6.857 1.168 0.667 1.000 0.981 0.936 312 Myb/SANT-like_DNA-binding_domain . . ID=COSV58492424;OCCURENCE=1(breast) MSANTD3 361 1 446 58 0.115079365079365 TRUE TRUE ENSG00000148356.13 . BCM GRCh38.p13 chr9 127479500 127479500 + A A G Missense_Mutation SNP ENST00000323301.8 exon12 c.A898G p.K300E exonic ENSG00000148356.13 . nonsynonymous SNV ENSG00000148356.13:ENST00000323301.8:exon12:c.A898G:p.K300E 9q33.3 C3L-03123 . . . . . . . . . 5.20 D T B B N D L T N 0.476 T T T 0.078 0.211 0.566 0.262 T T T T D D 3.007 23.400 0.995 D N -0.187 1.913 -0.058 2.172 0.868 0.707 0.725 0.725 0.714 . 5.740 4.570 3.594 1.312 0.756 1.000 0.996 0.907 513 . . . . LRSAM1 411 0 478 35 0.0682261208576998 TRUE TRUE ENSG00000136802.11 . BCM GRCh38.p13 chr9 128907616 128907616 + C C T Missense_Mutation SNP ENST00000259324.5 exon3 c.C452T p.S151L exonic ENSG00000136802.11 . nonsynonymous SNV ENSG00000136802.11:ENST00000259324.5:exon3:c.C452T:p.S151L 9q34.11 C3L-03123 . . . . . . . . . 16.20 D D D D D D M T D 0.895 T T D 0.392 0.274 0.413 1.903 D T D D D D 3.983 26.900 0.999 D D 0.783 8.462 0.765 9.160 1.000 0.707 0.577 0.725 0.711 . 5.170 5.170 7.905 1.026 0.599 1.000 0.987 0.992 901 LRRC8,_pannexin-like_TM_region . . . LRRC8A 347 0 430 49 0.102296450939457 TRUE TRUE ENSG00000107147.13 . BCM GRCh38.p13 chr9 135786344 135786344 + A A C Missense_Mutation SNP ENST00000488444.6 exon28 c.A3247C p.S1083R exonic ENSG00000107147.13 . nonsynonymous SNV ENSG00000107147.13:ENST00000488444.6:exon28:c.A3247C:p.S1083R 9q34.3 C3L-03123 . . . . . . . . . 10.18 D D . . U D M T N 0.810 T T D 0.315 - 0.599 0.409 T T D T D D 3.902 26.400 0.997 D D 0.566 5.591 0.485 5.022 1.000 0.649 0.547 0.596 0.563 . 4.750 4.750 8.557 1.202 0.683 1.000 0.984 0.740 536 . . . . KCNT1 622 1 684 82 0.107049608355091 TRUE TRUE ENSG00000159069.14 . BCM GRCh38.p13 chr9 136942070 136942070 + G G T Missense_Mutation SNP ENST00000325285.8 exon6 c.C1072A p.L358I exonic ENSG00000159069.14 . nonsynonymous SNV ENSG00000159069.14:ENST00000325285.8:exon6:c.C1072A:p.L358I 9q34.3 C3L-03123 . . . . . . . . . 9.20 T T D P D D M T N 0.448 T T D 0.133 0.274 0.807 . T T T T D D 3.004 23.400 0.993 D D 0.355 4.077 0.357 4.069 1.000 0.672 0.698 0.702 0.711 . 4.590 3.690 6.228 1.082 0.567 1.000 1.000 0.996 878 . . . . FBXW5 158 0 229 23 0.0912698412698413 TRUE TRUE ENSG00000198113.3 . BCM GRCh38.p13 chr9 137279281 137279281 + G G A Missense_Mutation SNP ENST00000357503.3 exon2 c.G592A p.V198M exonic ENSG00000198113.3 . nonsynonymous SNV ENSG00000198113.3:ENST00000357503.3:exon2:c.G592A:p.V198M 9q34.3 C3L-03123 . . . . . . . . . 14.20 D D D D D D H T N 0.593 T T D 0.424 0.706 0.313 2.400 D T D T D D 4.075 27.500 0.999 D D 0.832 9.446 0.790 9.839 1.000 0.722 0.699 0.654 0.639 . 5.140 5.140 2.988 1.085 0.570 0.999 0.997 0.994 988 AAA+_ATPase_domain . . . TOR4A 320 0 359 34 0.0865139949109415 TRUE TRUE ENSG00000134461.16 . BCM GRCh38.p13 chr10 5883052 5883052 + A A G Missense_Mutation SNP ENST00000380094.10 exon5 c.T803C p.V268A exonic ENSG00000134461.16 . nonsynonymous SNV ENSG00000134461.16:ENST00000380094.10:exon5:c.T803C:p.V268A 10p15.1 C3L-03123 . . . . . . . . . 0.20 T T B B N N N T N 0.108 T T T 0.015 0.379 0.120 0.225 T T T T T T 0.770 9.096 0.322 N N -1.407 0.114 -1.394 0.154 0.745 0.707 0.725 0.725 0.636 . 5.330 -1.960 0.215 -0.051 -0.050 0.084 0.000 0.004 819 Ankyrin_repeat-containing_domain . . . ANKRD16 240 0 264 36 0.12 TRUE TRUE ENSG00000177354.12 . BCM GRCh38.p13 chr10 49326491 49326491 + G G A Missense_Mutation SNP ENST00000374144.8 exon3 c.G3946A p.E1316K exonic ENSG00000177354.12 . nonsynonymous SNV ENSG00000177354.12:ENST00000374144.8:exon3:c.G3946A:p.E1316K 10q11.23 C3L-03123 . . . . . . . . . 4.15 D D . . U N . T N 0.109 T T D 0.088 0.166 0.286 0.297 . . T T T T 2.765 23.000 0.997 D N -0.048 2.344 -0.073 2.126 0.800 0.487 0.590 0.547 0.564 . 5.650 4.750 1.793 0.230 -0.194 0.979 0.045 0.410 894 . . . ID=COSV60506011;OCCURENCE=1(cervix) C10orf71 253 0 293 41 0.122754491017964 TRUE TRUE ENSG00000171988.19 . BCM GRCh38.p13 chr10 63264682 63264682 + A A T Nonsense_Mutation SNP ENST00000399262.7 exon3 c.T416A p.L139X exonic ENSG00000171988.19 . stopgain ENSG00000171988.19:ENST00000399262.7:exon3:c.T416A:p.L139X 10q21.3 C3L-03123 . . . . . . . . . 4.6 . . . . U D . . . 0.742 . . . . . . . . . D D . . 6.866 36 0.989 D N 0.858 10.014 0.747 8.733 1.000 0.660 0.587 0.663 0.658 . 5.620 5.620 4.294 1.298 0.674 1.000 1.000 0.997 595 . . . . JMJD1C 158 0 168 23 0.120418848167539 TRUE TRUE ENSG00000138336.9 . BCM GRCh38.p13 chr10 68691516 68691516 + G G A Missense_Mutation SNP ENST00000373644.5 exon12 c.G6113A p.R2038H exonic ENSG00000138336.9 . nonsynonymous SNV ENSG00000138336.9:ENST00000373644.5:exon12:c.G6113A:p.R2038H 10q21.3 C3L-03123 . . . . . . . . . 14.20 D D D D D D M T D 0.725 T T T 0.498 0.436 0.151 1.134 T T D D D D 4.405 31 1.000 D D 0.830 9.404 0.770 9.293 1.000 0.672 0.588 0.702 0.568 . 5.600 5.600 9.559 1.176 0.676 1.000 0.201 0.987 792 2OGFeDO,_oxygenase_domain . . ID=COSV65383302;OCCURENCE=1(stomach) TET1 319 0 408 26 0.0599078341013825 TRUE TRUE ENSG00000189129.14 . BCM GRCh38.p13 chr10 80142148 80142148 + C C T Missense_Mutation SNP ENST00000372263.4 exon2 c.C131T p.A44V exonic ENSG00000189129.14 . nonsynonymous SNV ENSG00000189129.14:ENST00000372263.4:exon2:c.C131T:p.A44V 10q22.3 C3L-03123 . . . . . . . . . 9.18 D D D D N N . . D 0.691 T T T 0.241 0.199 0.105 0.042 T T D D D T 3.557 24.900 0.996 D N 0.295 3.753 0.182 3.095 1.000 0.706 0.590 0.710 0.646 . 3.740 3.740 2.722 0.985 0.530 0.958 0.052 0.038 919 . . . . PLAC9 105 0 118 9 0.0708661417322835 TRUE TRUE ENSG00000182771.19 . BCM GRCh38.p13 chr10 85724627 85724627 + C C T Missense_Mutation SNP ENST00000327946.12 exon11 c.G1583A p.S528N exonic ENSG00000182771.19 . nonsynonymous SNV ENSG00000182771.19:ENST00000327946.12:exon11:c.G1583A:p.S528N 10q23.1 C3L-03123 . . . . . . . . . 3.20 T T B B D D N T N 0.129 T T T 0.127 0.292 0.123 0.213 T T T T T T 1.185 13.510 0.362 D N -0.587 1.011 -0.335 1.494 0.000 0.534 0.611 0.616 0.564 . 5.830 4.930 1.286 0.127 -0.193 0.968 0.998 0.974 931 Ionotropic_glutamate_receptor,_L-glutamate_and_glycine-binding_domain;Ionotropic_glutamate_receptor . . ID=COSV60052579;OCCURENCE=1(large_intestine) GRID1 208 0 209 21 0.091304347826087 TRUE TRUE ENSG00000119922.10 . BCM GRCh38.p13 chr10 89306911 89306911 + G G A Missense_Mutation SNP ENST00000371826.4 exon2 c.G955A p.A319T exonic ENSG00000119922.10 . nonsynonymous SNV ENSG00000119922.10:ENST00000371826.4:exon2:c.G955A:p.A319T 10q23.31 C3L-03123 1.659e-05 0.0001 0 0 0 1.501e-05 0 0 rs775027680 3.20 D T P B U N N T D 0.496 T T D 0.318 0.776 0.737 0.652 T T T T T T 2.288 21.500 0.999 N N -0.213 1.841 -0.305 1.553 1.000 0.563 0.654 0.547 0.616 . 4.580 3.670 0.451 1.176 0.676 0.000 0.535 0.855 818 . . . ID=COSV99260146;OCCURENCE=1(large_intestine),1(endometrium) IFIT2 392 0 426 47 0.0993657505285412 TRUE TRUE ENSG00000155287.11 . BCM GRCh38.p13 chr10 99620121 99620121 + A A G Missense_Mutation SNP ENST00000370495.6 exon1 c.T215C p.V72A exonic ENSG00000155287.11 . nonsynonymous SNV ENSG00000155287.11:ENST00000370495.6:exon1:c.T215C:p.V72A 10q24.2 C3L-03123 . . . . . . . . . 5.20 T T B B N D L T N 0.301 T T D 0.299 0.723 0.390 1.539 D T T T D T 3.506 24.700 0.987 D N -0.029 2.411 0.097 2.723 1.000 0.652 0.522 0.641 0.581 . 4.490 4.490 4.154 1.214 0.639 1.000 1.000 0.996 821 . . . . SLC25A28 228 0 297 27 0.0833333333333333 TRUE TRUE ENSG00000107816.17 . BCM GRCh38.p13 chr10 101007032 101007032 + A A G Missense_Mutation SNP ENST00000370220.1 exon4 c.A1874G p.Y625C exonic ENSG00000107816.17 . nonsynonymous SNV ENSG00000107816.17:ENST00000370220.1:exon4:c.A1874G:p.Y625C 10q24.31 C3L-03123 . . . . . . . . . 9.20 D D B B N D M T D 0.310 T T D 0.241 0.790 0.223 0.353 T T T T D T 3.083 23.600 0.982 D D -0.230 1.794 -0.114 2.007 1.000 0.732 0.744 0.607 0.714 . 5.100 1.200 4.229 1.228 0.658 1.000 1.000 0.999 554 . . . . LZTS2 297 0 362 25 0.0645994832041344 TRUE TRUE ENSG00000187164.20 . BCM GRCh38.p13 chr10 116906662 116906662 + C C T Missense_Mutation SNP ENST00000355371.9 exon15 c.G1445A p.R482H exonic ENSG00000187164.20 . nonsynonymous SNV ENSG00000187164.20:ENST00000355371.9:exon15:c.G1445A:p.R482H 10q25.3 C3L-03123 5.838e-05 0.0001 0.0004 0 0 1.513e-05 0 0 rs764643872 9.19 D D D D N D L . N 0.680 T T T 0.191 . 0.313 1.394 T T T D T D 3.966 26.700 0.999 D D 0.693 7.028 0.693 7.628 1.000 0.706 0.574 0.710 0.714 . 5.490 5.490 5.432 1.026 0.599 1.000 1.000 0.998 603 . . . ID=COSV104592860;OCCURENCE=1(skin) SHTN1 189 0 262 27 0.0934256055363322 TRUE NA ENSG00000154485.5 . BCM GRCh38.p13 chr10 125772245 125772245 + C C T Missense_Mutation SNP ENST00000368808.3 exon4 c.G952A p.D318N exonic ENSG00000154485.5 . nonsynonymous SNV ENSG00000154485.5:ENST00000368808.3:exon4:c.G952A:p.D318N 10q26.2 C3L-03123 . . . . . . . . . 15.20 D D D D D D H T D 0.910 D D D 0.597 0.924 0.954 0.818 T T T T D D 3.237 24.000 0.999 D D 0.883 10.630 0.737 8.500 1.000 0.517 0.514 0.479 0.568 . 5.190 5.190 5.053 1.026 0.599 1.000 0.984 0.204 940 Peptidase,_metallopeptidase;Peptidase_M10A,_catalytic_domain;Peptidase_M10,_metallopeptidase . . . MMP21 267 0 303 39 0.114035087719298 TRUE TRUE ENSG00000177595.18 . BCM GRCh38.p13 chr11 799384 799384 + G G A Missense_Mutation SNP ENST00000347755.10 exon16 c.C2656T p.R886C exonic ENSG00000177595.18 . nonsynonymous SNV ENSG00000177595.18:ENST00000347755.10:exon16:c.C2656T:p.R886C 11p15.5 C3L-03123 . . . . . . . . . 17.20 D D D D D N M D D 0.646 D D D 0.379 0.301 0.877 0.299 T D D D D D 3.639 25.200 0.998 D N 0.143 3.059 0.040 2.500 1.000 0.672 0.644 0.644 0.711 . 5.040 5.040 2.841 1.087 0.574 0.827 0.057 0.005 884 . . . . PIDD1 247 0 360 32 0.0816326530612245 TRUE TRUE ENSG00000110713.17 . BCM GRCh38.p13 chr11 3691464 3691464 + G G T Missense_Mutation SNP ENST00000359171.8 exon28 c.C4388A p.A1463D exonic ENSG00000110713.17 . nonsynonymous SNV ENSG00000110713.17:ENST00000359171.8:exon28:c.C4388A:p.A1463D 11p15.4 C3L-03123 . . . . . . . . . 15.19 D D D D D D M . D 0.939 T T D 0.492 0.344 0.571 0.933 T T D D D D 3.972 26.800 0.998 D D 0.485 4.922 0.502 5.182 1.000 0.707 0.725 0.725 0.714 . 5.570 5.570 9.606 1.071 0.604 1.000 0.990 0.182 534 Nuclear_protein_96 . . . NUP98 367 0 376 49 0.115294117647059 TRUE TRUE ENSG00000197790.1 . BCM GRCh38.p13 chr11 4546083 4546083 + G G A Missense_Mutation SNP ENST00000360213.1 exon1 c.G893A p.R298H exonic ENSG00000197790.1 . nonsynonymous SNV ENSG00000197790.1:ENST00000360213.1:exon1:c.G893A:p.R298H 11p15.4 C3L-03123 0.0012 0.0124 0.0009 0 0 0.0001 0.0022 0 rs78242421 5.19 D D B B D N H T D 0.312 T T . 0.119 . 0.598 . T T T T T T 1.221 13.800 0.991 N N -0.273 1.682 -0.391 1.388 0.003 0.487 0.574 0.574 0.542 . 4.910 3.030 0.531 -0.140 -0.682 0.000 0.015 0.017 800 . . . ID=COSV99081024;OCCURENCE=2(lung) OR52M1 140 0 195 17 0.080188679245283 TRUE NA ENSG00000179532.13 . BCM GRCh38.p13 chr11 6545497 6545497 + C C T Missense_Mutation SNP ENST00000254579.11 exon21 c.C4558T p.R1520W exonic ENSG00000179532.13 . nonsynonymous SNV ENSG00000179532.13:ENST00000254579.11:exon21:c.C4558T:p.R1520W 11p15.4 C3L-03123 . . . . . . . . . 0.20 T T B B N N L T N 0.251 T T T 0.066 0.733 0.145 0.124 T T T T T T 1.657 16.740 0.991 N N -0.553 1.075 -0.466 1.258 0.683 0.615 0.577 0.616 0.528 . 5.660 -0.134 -0.444 0.123 0.599 0.551 0.998 0.991 470 . . . . DNHD1 420 0 418 29 0.0648769574944072 TRUE NA ENSG00000179057.13 . BCM GRCh38.p13 chr11 18716970 18716970 + T T C Missense_Mutation SNP ENST00000513874.5 exon10 c.A1004G p.K335R exonic ENSG00000179057.13 . nonsynonymous SNV ENSG00000179057.13:ENST00000513874.5:exon10:c.A1004G:p.K335R 11p15.1 C3L-03123 . . . . . . . . . 3.16 T D . . U N . T N 0.204 T T T 0.227 0.523 0.871 0.419 T . T T D T 2.709 22.800 0.999 D N 0.316 3.864 0.292 3.672 0.004 0.447 0.563 0.563 0.530 . 5.030 3.860 2.046 1.138 0.665 0.980 0.684 0.964 786 . . . . IGSF22 188 0 217 19 0.0805084745762712 TRUE TRUE ENSG00000109920.13 . BCM GRCh38.p13 chr11 47722991 47722991 + T T - Frame_Shift_Del DEL ENST00000263773.10 exon15 c.2790delA p.G931Efs*17 exonic ENSG00000109920.13 . frameshift deletion ENSG00000109920.13:ENST00000263773.10:exon15:c.2790delA:p.G931Efs*17 11p11.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FNBP4 125 1 161 20 0.110497237569061 TRUE TRUE ENSG00000198561.15 . BCM GRCh38.p13 chr11 57796575 57796575 + G G A Missense_Mutation SNP ENST00000399050.10 exon6 c.G539A p.R180H exonic ENSG00000198561.15 . nonsynonymous SNV ENSG00000198561.15:ENST00000399050.10:exon6:c.G539A:p.R180H 11q12.1 C3L-03123 1.656e-05 0 0 0.0001 0 1.499e-05 0 0 rs771907778 17.20 D D D D D D M T D 0.836 D D D 0.529 0.597 0.840 1.228 T T D D D D 4.220 28.900 1.000 D D 0.851 9.866 0.866 12.378 1.000 0.707 0.725 0.702 0.714 . 6.010 6.010 6.501 1.176 0.676 1.000 1.000 0.999 378 . . . . CTNND1 215 0 225 14 0.0585774058577406 TRUE NA ENSG00000124942.14 . BCM GRCh38.p13 chr11 62524384 62524384 + C C A Missense_Mutation SNP ENST00000378024.9 exon5 c.G10033T p.G3345C exonic ENSG00000124942.14 . nonsynonymous SNV ENSG00000124942.14:ENST00000378024.9:exon5:c.G10033T:p.G3345C 11q12.3 C3L-03123 . . . . . . . . . 9.18 D D D D . D M T D 0.408 T T T 0.139 0.256 0.140 0.206 T D T T D T 3.103 23.600 0.993 N . 0.306 3.811 0.060 2.576 0.345 0.706 0.710 0.659 0.714 . 4.050 1.960 0.573 0.128 0.549 0.002 0.841 0.989 244 . . . . AHNAK 182 0 245 19 0.071969696969697 TRUE TRUE ENSG00000149823.9 . BCM GRCh38.p13 chr11 65108580 65108580 + G G A Missense_Mutation SNP ENST00000279281.8 exon5 c.G1109A p.R370Q exonic ENSG00000149823.9 . nonsynonymous SNV ENSG00000149823.9:ENST00000279281.8:exon5:c.G1109A:p.R370Q 11q13.1 C3L-03123 . . . . . . . . . 12.19 D T P B D D M . D 0.730 T T T 0.658 0.738 0.459 1.804 D T D D D D 3.713 25.500 0.999 D D 0.516 5.165 0.569 5.851 1.000 0.672 0.702 0.723 0.636 . 5.190 4.220 9.745 1.083 0.574 1.000 1.000 0.994 373 . . . . VPS51 679 0 707 79 0.100508905852417 TRUE TRUE ENSG00000197136.4 . BCM GRCh38.p13 chr11 65623610 65623610 + T T C Missense_Mutation SNP ENST00000355703.3 exon12 c.T2477C p.L826P exonic ENSG00000197136.4 . nonsynonymous SNV ENSG00000197136.4:ENST00000355703.3:exon12:c.T2477C:p.L826P 11q13.1 C3L-03123 . . . . . . . . . 15.19 D D D P . D M T D 0.934 D T D 0.793 0.564 0.970 . D T D D D D 4.141 28.100 0.999 D D 0.596 5.881 0.551 5.664 1.000 0.732 0.702 0.744 0.714 . 4.310 4.310 7.920 1.104 0.625 1.000 0.994 0.994 275 . . . . PCNX3 296 0 333 28 0.0775623268698061 TRUE TRUE ENSG00000175463.12 . BCM GRCh38.p13 chr11 67405982 67405982 + G G A Missense_Mutation SNP ENST00000542590.2 exon5 c.G547A p.V183M exonic ENSG00000175463.12 . nonsynonymous SNV ENSG00000175463.12:ENST00000542590.2:exon5:c.G547A:p.V183M 11q13.2 C3L-03123 1.432e-05 0 0.0002 0 0 0 0 0 rs778177831 9.19 D D D D D D . T N 0.640 T T T 0.222 0.714 0.326 . T T T T D D 3.928 26.500 0.999 D N 0.529 5.271 0.467 4.869 1.000 0.628 0.672 0.578 0.605 . 4.340 4.340 2.011 1.176 0.676 0.990 0.680 0.661 514 Rab-GTPase-TBC_domain . . . TBC1D10C 222 0 252 44 0.148648648648649 TRUE NA ENSG00000149300.10 . BCM GRCh38.p13 chr11 111926036 111926036 + T T C Missense_Mutation SNP ENST00000278601.6 exon4 c.T209C p.M70T exonic ENSG00000149300.10 . nonsynonymous SNV ENSG00000149300.10:ENST00000278601.6:exon4:c.T209C:p.M70T 11q23.1 C3L-03123 8.242e-06 0 0 0.0001 0 0 0 0 rs587644032 0.19 T T B B N N N T N 0.054 T T T 0.085 . 0.107 0.614 . T T T T T -0.936 0.011 0.277 N N -1.924 0.013 -1.985 0.015 1.000 0.539 0.624 0.784 0.550 . 4.720 -8.720 -1.469 -3.140 -1.794 0.000 0.000 0.000 90 . . . . C11orf52 589 1 624 40 0.0602409638554217 TRUE NA ENSG00000110063.10 . BCM GRCh38.p13 chr11 126345369 126345369 + G G A Missense_Mutation SNP ENST00000263579.5 exon6 c.G770A p.R257Q exonic ENSG00000110063.10 . nonsynonymous SNV ENSG00000110063.10:ENST00000263579.5:exon6:c.G770A:p.R257Q 11q24.2 C3L-03123 1.654e-05 0 0 0.0001 0 0 0 6.064e-05 rs747057647 1.20 T T B B N N N D N 0.131 T T T 0.281 . 0.508 0.132 T T T T T T 1.165 13.360 0.679 N N -1.586 0.058 -1.439 0.133 1.000 0.722 0.702 0.699 0.711 . 5.300 -2.920 2.718 -0.084 -0.773 1.000 0.563 0.072 933 . . . . DCPS 336 0 365 28 0.0712468193384224 TRUE NA ENSG00000149571.12 . BCM GRCh38.p13 chr11 126521384 126521384 + C C T Missense_Mutation SNP ENST00000525144.7 exon4 c.G364A p.D122N exonic ENSG00000149571.12 . nonsynonymous SNV ENSG00000149571.12:ENST00000525144.7:exon4:c.G364A:p.D122N 11q24.2 C3L-03123 4.265e-05 0 0.0016 0 0 0 0 0 rs767674597 13.20 D D D D D D M T D 0.543 T T D 0.366 0.341 0.613 1.262 T T T T D D 3.605 25.100 0.999 D D 0.746 7.821 0.650 6.907 1.000 0.554 0.563 0.602 0.564 . 4.650 4.650 7.867 1.026 0.599 1.000 0.036 0.085 954 Immunoglobulin_subtype_2;Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV73104760;OCCURENCE=3(oesophagus) KIRREL3 154 0 187 14 0.0696517412935323 TRUE TRUE ENSG00000149418.11 . BCM GRCh38.p13 chr11 130189885 130189885 + T T C Missense_Mutation SNP ENST00000278742.6 exon5 c.T587C p.V196A exonic ENSG00000149418.11 . nonsynonymous SNV ENSG00000149418.11:ENST00000278742.6:exon5:c.T587C:p.V196A 11q24.3 C3L-03123 . . . . . . . . . 10.20 T D P P N D M D N 0.533 D D D 0.444 0.328 0.894 0.966 T T T T D T 3.582 25.000 0.998 D D 0.413 4.427 0.414 4.457 1.000 0.632 0.634 0.780 0.542 . 4.980 4.980 2.952 1.138 0.665 0.955 0.986 0.639 729 SEA_domain . . . ST14 409 0 427 47 0.0991561181434599 TRUE TRUE ENSG00000183715.13 . BCM GRCh38.p13 chr11 132437248 132437248 + A A G Missense_Mutation SNP ENST00000331898.11 exon4 c.T638C p.V213A exonic ENSG00000183715.13 . nonsynonymous SNV ENSG00000183715.13:ENST00000331898.11:exon4:c.T638C:p.V213A 11q25 C3L-03123 . . . . . . . . . 6.20 D T P P D D N T N 0.581 T T T 0.094 0.463 0.385 1.597 T T T T D T 3.626 25.100 0.998 D D 0.432 4.547 0.520 5.343 1.000 0.554 0.590 0.602 0.564 . 5.950 5.950 5.900 1.312 0.756 1.000 0.727 0.811 938 Immunoglobulin-like_domain;Immunoglobulin_subtype . . . OPCML 190 0 183 21 0.102941176470588 TRUE TRUE ENSG00000139044.12 . BCM GRCh38.p13 chr12 460413 460413 + C C A Missense_Mutation SNP ENST00000266383.10 exon1 c.C37A p.L13M exonic ENSG00000139044.12 . nonsynonymous SNV ENSG00000139044.12:ENST00000266383.10:exon1:c.C37A:p.L13M 12p13.33 C3L-03123 . . . . . . . . . 2.20 T T P B U N L T N 0.308 T T D 0.084 0.345 0.190 0.140 D T T T T T 1.141 13.150 0.836 N N -0.490 1.196 -0.577 1.081 1.000 0.455 0.492 0.607 0.555 . 3.870 -2.510 -0.258 0.815 0.417 0.000 0.789 0.146 461 . . . . B4GALNT3 233 1 314 84 0.21105527638191 TRUE NA ENSG00000111262.6 . BCM GRCh38.p13 chr12 4911922 4911922 + G G A Missense_Mutation SNP ENST00000382545.5 exon2 c.G544A p.V182I exonic ENSG00000111262.6 . nonsynonymous SNV ENSG00000111262.6:ENST00000382545.5:exon2:c.G544A:p.V182I 12p13.32 C3L-03123 . . . . . . . . . 8.20 T T B B D D L T N 0.367 T T T 0.134 0.434 0.733 2.081 D D T T D D 2.550 22.500 0.986 D D 0.032 2.626 0.205 3.209 1.000 0.765 0.541 0.732 0.530 . 4.710 4.710 8.123 1.176 0.676 1.000 0.998 0.997 855 Ion_transport_domain . . ID=COSV66838528;OCCURENCE=1(large_intestine),1(lung) KCNA1 225 0 280 24 0.0789473684210526 TRUE TRUE ENSG00000110799.13 . BCM GRCh38.p13 chr12 6075367 6075367 + A A G Missense_Mutation SNP ENST00000261405.9 exon7 c.T842C p.V281A exonic ENSG00000110799.13 . nonsynonymous SNV ENSG00000110799.13:ENST00000261405.9:exon7:c.T842C:p.V281A 12p13.31 C3L-03123 . . . . . . . . . 2.20 T T B B N N L T N 0.333 T T D 0.172 0.561 0.506 0.381 T T T T D T 1.361 14.810 0.758 N N -0.671 0.862 -0.718 0.874 1.000 0.731 0.596 0.769 0.649 . 4.840 1.060 2.240 1.312 0.756 0.362 0.066 0.016 917 Uncharacterised_domain,_cysteine-rich . . . VWF 506 0 670 64 0.0871934604904632 TRUE TRUE ENSG00000111676.15 . BCM GRCh38.p13 chr12 6938860 6938860 + C C T Missense_Mutation SNP ENST00000396684.3 exon7 c.C2897T p.P966L exonic ENSG00000111676.15 . nonsynonymous SNV ENSG00000111676.15:ENST00000396684.3:exon7:c.C2897T:p.P966L 12p13.31 C3L-03123 . . . . . . . . . 10.20 D D D D U D L T D 0.336 T T D 0.228 . 0.422 2.054 T D T T D T 2.926 23.300 0.999 D N 0.384 4.246 0.390 4.290 1.000 0.722 0.699 0.696 0.711 . 4.910 4.910 0.397 1.026 -0.173 0.014 0.995 0.219 754 . . . . ATN1 413 0 535 108 0.16796267496112 TRUE NA ENSG00000139178.11 . BCM GRCh38.p13 chr12 7101969 7101969 + C C T Missense_Mutation SNP ENST00000266542.9 exon3 c.G419A p.R140H exonic ENSG00000139178.11 . nonsynonymous SNV ENSG00000139178.11:ENST00000266542.9:exon3:c.G419A:p.R140H 12p13.31 C3L-03123 0.0002 0 0.0023 0.0001 0 1.5e-05 0 0 rs201847594 2.20 T T D D N N L T N 0.049 T T T 0.055 . 0.061 0.224 T T T T T T -0.184 0.553 0.967 N N -1.074 0.330 -1.261 0.236 1.000 0.719 0.634 0.723 0.714 . 3.760 -4.020 -1.326 -0.732 -0.202 0.000 0.003 0.149 637 CUB_domain . . ID=COSV56926292;OCCURENCE=1(large_intestine) C1RL 324 0 385 37 0.0876777251184834 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-03123 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 411 0 459 217 0.321005917159763 TRUE TRUE ENSG00000064102.15 . BCM GRCh38.p13 chr12 26928772 26928772 + G G A Missense_Mutation SNP ENST00000261191.12 exon4 c.C434T p.T145I exonic ENSG00000064102.15 . nonsynonymous SNV ENSG00000064102.15:ENST00000261191.12:exon4:c.C434T:p.T145I 12p11.23 C3L-03123 . . . . . . . . . 8.19 T D P P D D . T D 0.246 T T T 0.227 0.518 0.043 0.783 T T T T D D 3.252 24.000 0.997 D D 0.556 5.503 0.604 6.280 1.000 0.707 0.725 0.725 0.714 . 5.370 5.370 6.288 1.157 0.595 1.000 1.000 0.999 827 . . . . INTS13 456 0 554 52 0.0858085808580858 TRUE NA ENSG00000177875.5 . BCM GRCh38.p13 chr12 48184565 48184565 + C C A Missense_Mutation SNP ENST00000316554.5 exon1 c.C443A p.P148H exonic ENSG00000177875.5 . nonsynonymous SNV ENSG00000177875.5:ENST00000316554.5:exon1:c.C443A:p.P148H 12q13.11 C3L-03123 . . . . . . . . . 5.19 D D P P N N N T D 0.421 T T T 0.157 0.142 0.159 0.799 . T T T D T 3.804 25.900 0.940 D N 0.240 3.484 0.295 3.689 1.000 0.598 0.563 0.504 0.639 . 5.110 5.110 1.630 1.026 0.599 0.845 0.357 0.986 739 . . . ID=COSV100344059;OCCURENCE=1(stomach) CCDC184 161 0 204 13 0.0599078341013825 TRUE TRUE ENSG00000187166.1 . BCM GRCh38.p13 chr12 48329587 48329587 + C C T Missense_Mutation SNP ENST00000335017.1 exon1 c.C296T p.A99V exonic ENSG00000187166.1 . nonsynonymous SNV ENSG00000187166.1:ENST00000335017.1:exon1:c.C296T:p.A99V 12q13.11 C3L-03123 4.634e-05 0 0 0 0.0005 3.39e-05 0 0 rs775913130 2.19 D D P B . N L T N 0.093 T T T 0.049 0.280 0.202 0.632 T T T T T T 0.606 7.568 0.997 N N -0.692 0.827 -0.798 0.761 0.000 0.487 0.574 0.547 0.542 . 4.900 0.701 0.268 -0.844 0.599 0.000 0.000 0.002 582 . . . . H1-7 481 0 499 142 0.221528861154446 TRUE NA ENSG00000181418.8 . BCM GRCh38.p13 chr12 48997263 48997263 + T T C Missense_Mutation SNP ENST00000421952.3 exon2 c.A1613G p.D538G exonic ENSG00000181418.8 . nonsynonymous SNV ENSG00000181418.8:ENST00000421952.3:exon2:c.A1613G:p.D538G 12q13.12 C3L-03123 . . . . . . . . . 4.20 D T P B N N L T D 0.220 T T D 0.127 0.173 0.303 1.475 T T T T D T 2.218 21.000 0.993 N N -0.630 0.934 -0.734 0.852 1.000 0.564 0.552 0.608 0.619 . 3.680 2.490 0.100 1.066 0.519 0.004 0.025 0.031 612 . . . . DDN 136 0 129 38 0.227544910179641 TRUE TRUE ENSG00000011465.17 . BCM GRCh38.p13 chr12 91153099 91153099 + G G C Missense_Mutation SNP ENST00000052754.10 exon6 c.C743G p.A248G exonic ENSG00000011465.17 . nonsynonymous SNV ENSG00000011465.17:ENST00000052754.10:exon6:c.C743G:p.A248G 12q21.33 C3L-03123 . . . . . . . . . 5.20 T T B B N D N T N 0.458 T T T 0.108 0.381 0.597 0.277 T T T T D D 4.447 32 0.986 D D 0.065 2.751 0.267 3.532 1.000 0.554 0.574 0.618 0.564 . 5.450 5.450 9.806 1.176 0.618 1.000 0.999 0.895 893 . . . . DCN 345 1 315 80 0.20253164556962 TRUE TRUE ENSG00000110906.13 . BCM GRCh38.p13 chr12 109456258 109456258 + G G A Missense_Mutation SNP ENST00000228495.11 exon6 c.C583T p.R195C exonic ENSG00000110906.13 . nonsynonymous SNV ENSG00000110906.13:ENST00000228495.11:exon6:c.C583T:p.R195C 12q24.11 C3L-03123 . . . . . . . . . 15.20 D D D P D D M T D 0.768 T T D 0.370 0.582 0.520 1.720 D T D D D D 4.550 32 0.999 D D 0.627 6.207 0.578 5.963 1.000 0.707 0.725 0.702 0.714 . 4.650 4.650 2.436 1.176 0.676 1.000 0.993 0.994 758 . . . ID=COSV57327587;OCCURENCE=1(large_intestine) KCTD10 477 0 649 59 0.0833333333333333 TRUE TRUE ENSG00000089250.19 . BCM GRCh38.p13 chr12 117311466 117311466 + C C A Missense_Mutation SNP ENST00000317775.11 exon3 c.G852T p.Q284H exonic ENSG00000089250.19 . nonsynonymous SNV ENSG00000089250.19:ENST00000317775.11:exon3:c.G852T:p.Q284H 12q24.22 C3L-03123 . . . . . . . . . 6.20 T T P B D D L T N 0.526 T T T 0.088 0.253 0.509 0.444 T T T T D D 3.897 26.300 0.995 D D 0.500 5.039 0.556 5.718 0.975 0.554 0.574 0.602 0.564 . 5.650 5.650 5.112 1.016 0.587 1.000 0.978 0.876 888 . . . . NOS1 110 0 116 35 0.231788079470199 TRUE TRUE ENSG00000135090.14 . BCM GRCh38.p13 chr12 118161957 118161957 + C C T Missense_Mutation SNP ENST00000392533.8 exon18 c.G1970A p.R657Q exonic ENSG00000135090.14 . nonsynonymous SNV ENSG00000135090.14:ENST00000392533.8:exon18:c.G1970A:p.R657Q 12q24.23 C3L-03123 8.237e-06 0 0 0 0 0 0 6.056e-05 rs753899938 5.20 T T B B D D N T N 0.130 T T T 0.132 0.321 0.420 1.135 T T T T D D 2.210 20.900 0.875 D N -0.392 1.400 -0.078 2.111 0.999 0.706 0.702 0.710 0.714 . 5.550 5.550 2.508 1.026 0.599 0.996 1.000 0.998 967 . . . ID=COSV101183383;OCCURENCE=1(central_nervous_system) TAOK3 366 0 335 86 0.204275534441805 TRUE NA ENSG00000179195.16 . BCM GRCh38.p13 chr12 124012169 124012169 + A A G Missense_Mutation SNP ENST00000337815.9 exon5 c.A25G p.R9G exonic ENSG00000179195.16 . nonsynonymous SNV ENSG00000179195.16:ENST00000337815.9:exon5:c.A25G:p.R9G 12q24.31 C3L-03123 . . . . . . . . . 3.20 T T B B D D N T N 0.103 T T T 0.279 0.518 0.161 1.202 T T T T D T 1.709 17.090 0.865 N N -0.571 1.041 -0.312 1.540 0.935 0.732 0.725 0.744 0.714 . 4.520 3.350 2.588 1.312 0.756 1.000 1.000 1.000 749 Zinc_finger_C2H2-type . . . ZNF664 151 0 146 34 0.188888888888889 TRUE TRUE ENSG00000151849.15 . BCM GRCh38.p13 chr13 24906317 24906317 + T T C Missense_Mutation SNP ENST00000381884.9 exon7 c.A1721G p.E574G exonic ENSG00000151849.15 . nonsynonymous SNV ENSG00000151849.15:ENST00000381884.9:exon7:c.A1721G:p.E574G 13q12.13 C3L-03123 . . . . . . . . . 15.20 D D D D D D M T D 0.799 T T D 0.400 0.244 0.852 0.621 T T D D D D 4.216 28.800 0.999 D D 0.849 9.820 0.835 11.243 1.000 0.707 0.725 0.651 0.636 . 6.030 6.030 7.309 1.126 0.665 1.000 1.000 0.998 884 . . . . CENPJ 59 0 82 9 0.0989010989010989 TRUE TRUE ENSG00000133119.13 . BCM GRCh38.p13 chr13 33825841 33825841 + G G A Missense_Mutation SNP ENST00000380071.8 exon4 c.G346A p.A116T exonic ENSG00000133119.13 . nonsynonymous SNV ENSG00000133119.13:ENST00000380071.8:exon4:c.G346A:p.A116T 13q13.2 C3L-03123 . . . . . . . . . 15.20 D D D D D D M T D 0.737 T T D 0.553 0.764 0.872 0.322 T T D D D D 4.146 28.200 0.999 D D 0.953 12.499 0.896 13.573 1.000 0.732 0.644 0.725 0.728 . 5.150 5.150 9.655 1.006 0.676 1.000 0.998 0.992 916 AAA+_ATPase_domain . . . RFC3 120 0 139 12 0.0794701986754967 TRUE TRUE ENSG00000172915.18 . BCM GRCh38.p13 chr13 35045400 35045400 + C C T Missense_Mutation SNP ENST00000400445.7 exon4 c.C722T p.A241V exonic ENSG00000172915.18 . nonsynonymous SNV ENSG00000172915.18:ENST00000400445.7:exon4:c.C722T:p.A241V 13q13.3 C3L-03123 . . . . . . . . . 18.20 D D D D D D M T D 0.856 D D D 0.619 0.645 0.294 1.820 D D D T D D 4.674 32 0.999 D D 0.807 8.919 0.810 10.419 1.000 0.615 0.588 0.659 0.621 . 5.670 5.670 7.637 1.026 0.599 1.000 1.000 1.000 938 . . . ID=COSV59791392;OCCURENCE=1(large_intestine),1(stomach),1(lung) NBEA 184 0 217 29 0.117886178861789 TRUE TRUE ENSG00000136104.21 . BCM GRCh38.p13 chr13 50934924 50934924 + G G A Missense_Mutation SNP ENST00000336617.8 exon5 c.G361A p.V121M exonic ENSG00000136104.21 . nonsynonymous SNV ENSG00000136104.21:ENST00000336617.8:exon5:c.G361A:p.V121M 13q14.3 C3L-03123 8.442e-06 0 0 0 0 1.537e-05 0 0 rs764980431 3.20 T T B B N N N D N 0.145 T D D 0.209 0.330 0.493 0.051 T T T T T T -0.661 0.054 0.761 N N -1.389 0.122 -1.372 0.166 1.000 0.706 0.725 0.710 0.714 . 5.700 -1.540 -0.066 -0.428 -0.904 0.000 0.402 0.560 836 . . . . RNASEH2B 384 0 439 62 0.12375249500998 TRUE NA ENSG00000178235.8 . BCM GRCh38.p13 chr13 83879941 83879941 + G G A Nonsense_Mutation SNP ENST00000377084.3 exon1 c.C1567T p.Q523X exonic ENSG00000178235.8 . stopgain ENSG00000178235.8:ENST00000377084.3:exon1:c.C1567T:p.Q523X 13q31.1 C3L-03123 . . . . . . . . . 5.6 . . . . D D . . . 0.934 . . . . . . . . . D D . . 7.856 39 0.998 D N 1.178 21.923 1.029 20.737 1.000 0.652 0.547 0.641 0.564 . 5.220 5.220 8.020 1.176 0.676 1.000 1.000 0.999 973 . . . . SLITRK1 372 1 361 50 0.121654501216545 TRUE TRUE ENSG00000198176.13 . BCM GRCh38.p13 chr13 113611043 113611043 + G G T Missense_Mutation SNP ENST00000375370.10 exon3 c.G60T p.Q20H exonic ENSG00000198176.13 . nonsynonymous SNV ENSG00000198176.13:ENST00000375370.10:exon3:c.G60T:p.Q20H 13q34 C3L-03123 . . . . . . . . . 10.20 D D D P D D M T N 0.635 T T D 0.170 0.465 0.093 0.810 T T T T D D 4.023 27.100 0.997 D N 0.431 4.544 0.383 4.238 0.926 0.707 0.725 0.609 0.714 . 4.270 3.170 3.232 1.121 0.616 1.000 1.000 0.998 982 . . . . TFDP1 265 0 283 22 0.0721311475409836 TRUE TRUE ENSG00000187790.11 . BCM GRCh38.p13 chr14 45181673 45181673 + G G T Missense_Mutation SNP ENST00000267430.10 exon16 c.G4354T p.A1452S exonic ENSG00000187790.11 . nonsynonymous SNV ENSG00000187790.11:ENST00000267430.10:exon16:c.G4354T:p.A1452S 14q21.2 C3L-03123 . . . . . . . . . 5.20 D T D P N N M T N 0.470 T T T 0.088 0.161 0.469 0.234 T T T T D T 3.490 24.700 0.996 D N 0.202 3.314 0.257 3.474 1.000 0.615 0.634 0.659 0.655 . 5.250 4.360 2.774 1.161 0.618 0.991 0.997 0.998 815 . . . . FANCM 383 1 299 59 0.164804469273743 TRUE TRUE ENSG00000100614.18 . BCM GRCh38.p13 chr14 60289857 60289857 + G G A Missense_Mutation SNP ENST00000395076.9 exon4 c.G1004A p.R335H exonic ENSG00000100614.18 . nonsynonymous SNV ENSG00000100614.18:ENST00000395076.9:exon4:c.G1004A:p.R335H 14q23.1 C3L-03123 8.411e-06 0 0 0.0001 0 0 0 0 rs755451132 8.20 T T B B D D L T N 0.691 T T T 0.168 0.707 0.700 1.047 D T D T D D 2.812 23.000 0.997 D D 0.123 2.977 0.318 3.824 1.000 0.732 0.725 0.630 0.728 . 5.360 5.360 8.068 1.176 0.618 1.000 1.000 0.996 491 Protein_serine/threonine_phosphatase_2C,_C-terminal . . ID=COSV57785310;OCCURENCE=3(large_intestine) PPM1A 176 0 145 36 0.198895027624309 TRUE NA ENSG00000099814.16 . BCM GRCh38.p13 chr14 104886377 104886377 + C C T Missense_Mutation SNP ENST00000414716.8 exon12 c.C2138T p.A713V exonic ENSG00000099814.16 . nonsynonymous SNV ENSG00000099814.16:ENST00000414716.8:exon12:c.C2138T:p.A713V 14q32.33 C3L-03123 . . . . . . . . . 1.20 T T B B N N M T N 0.160 T T T 0.015 0.205 0.110 0.176 T T T T T T 0.668 8.162 0.953 N N -1.075 0.329 -1.113 0.362 0.215 0.707 0.588 0.723 0.714 . 4.830 0.253 1.208 -0.773 -0.193 0.003 0.052 0.022 976 . . . . CEP170B 214 0 226 46 0.169117647058824 TRUE NA ENSG00000170113.16 . BCM GRCh38.p13 chr15 22824211 22824211 + T T C Missense_Mutation SNP ENST00000337435.9 exon5 c.T962C p.M321T exonic ENSG00000170113.16 . nonsynonymous SNV ENSG00000170113.16:ENST00000337435.9:exon5:c.T962C:p.M321T 15q11.2 C3L-03123 . . . . . . . . . 4.7 D D . . . . . D N 0.249 . . . . . . . . T . . . T 2.937 23.300 . . D . . . . . . . . . . . . 4.052 1.138 0.609 1.000 1.000 0.999 809 . . . ID=COSV61680728;OCCURENCE=1(stomach) NIPA1 294 0 360 28 0.0721649484536082 TRUE TRUE ENSG00000275835.5 . BCM GRCh38.p13 chr15 23022088 23022088 + T T G Missense_Mutation SNP ENST00000615383.5 exon11 c.A1242C p.K414N exonic ENSG00000275835.5 . nonsynonymous SNV ENSG00000275835.5:ENST00000615383.5:exon11:c.A1242C:p.K414N 15q11.2 C3L-03123 2.471e-05 0 0 0 0 0 0 0.0002 . 1.4 . T . . . . . . . 0.583 . . . . . . . . T . . . D 2.715 22.900 . . N . . . . . . . . . . . . 1.603 1.138 0.665 1.000 1.000 0.997 773 . . . . TUBGCP5 532 1 594 66 0.1 TRUE TRUE ENSG00000128731.18 . BCM GRCh38.p13 chr15 28265882 28265882 + G G A Missense_Mutation SNP ENST00000261609.13 exon13 c.C1691T p.A564V exonic ENSG00000128731.18 . nonsynonymous SNV ENSG00000128731.18:ENST00000261609.13:exon13:c.C1691T:p.A564V 15q13.1 C3L-03123 8.247e-06 0 0 0 0 1.501e-05 0 0 rs367923183 16.19 T . D D D D L D D 0.931 D D D 0.597 . 0.747 1.767 T D D D D D 3.568 24.900 0.998 D D 0.694 7.042 0.667 7.171 1.000 0.707 0.714 0.725 0.636 . 5.700 5.700 9.516 1.176 0.676 1.000 0.195 0.516 867 . . . ID=COSV55356651;OCCURENCE=1(large_intestine) HERC2 514 0 509 55 0.0975177304964539 TRUE NA ENSG00000169918.9 . BCM GRCh38.p13 chr15 31484076 31484076 + C C T Missense_Mutation SNP ENST00000307050.5 exon11 c.G1999A p.A667T exonic ENSG00000169918.9 . nonsynonymous SNV ENSG00000169918.9:ENST00000307050.5:exon11:c.G1999A:p.A667T 15q13.3 C3L-03123 . . . . . . . . . 8.20 D T P B U D L T N 0.143 T T D 0.052 0.232 0.168 . D T T T D D 2.056 19.680 0.998 D D 0.023 2.592 0.051 2.544 1.000 0.598 0.588 0.666 0.639 . 3.930 3.000 3.491 0.072 -0.292 1.000 0.666 0.011 958 . . . . OTUD7A 184 0 229 28 0.108949416342412 TRUE NA ENSG00000198838.13 . BCM GRCh38.p13 chr15 33613240 33613240 + T T C Missense_Mutation SNP ENST00000634891.1 exon19 c.T2222C p.V741A exonic ENSG00000198838.13 . nonsynonymous SNV ENSG00000198838.13:ENST00000634891.1:exon19:c.T2222C:p.V741A 15q14 C3L-03123 . . . . . . . . . 17.19 D . D D D D H T D 0.867 D D D 0.670 0.767 0.614 0.807 T D D D D D 3.816 25.900 0.999 D D 0.846 9.754 0.761 9.056 1.000 0.497 0.590 0.492 0.613 . 5.400 5.400 8.017 1.134 0.661 1.000 0.912 0.837 923 0.000 . . . RYR3 419 0 474 36 0.0705882352941176 TRUE TRUE ENSG00000128829.12 . BCM GRCh38.p13 chr15 39976643 39976643 + G G A Missense_Mutation SNP ENST00000263791.10 exon12 c.G2048A p.R683H exonic ENSG00000128829.12 . nonsynonymous SNV ENSG00000128829.12:ENST00000263791.10:exon12:c.G2048A:p.R683H 15q15.1 C3L-03123 . . . . . . . . . 1.20 T T B B N N N T N 0.092 T T D 0.073 0.426 0.666 1.258 T T T T T T 0.722 8.656 0.987 N N -1.046 0.357 -1.127 0.348 1.000 0.726 0.725 0.594 0.373 . 4.650 -2.340 -0.925 0.036 0.509 0.000 0.002 0.020 619 Protein_kinase_domain . . . EIF2AK4 308 0 376 53 0.123543123543124 TRUE TRUE ENSG00000137843.12 . BCM GRCh38.p13 chr15 40273407 40273407 + C C T Missense_Mutation SNP ENST00000560346.5 exon8 c.C1552T p.H518Y exonic ENSG00000137843.12 . nonsynonymous SNV ENSG00000137843.12:ENST00000560346.5:exon8:c.C1552T:p.H518Y 15q15.1 C3L-03123 . . . . . . . . . 20.20 D D D D D D M D D 0.937 D D D 0.953 0.848 0.941 0.661 D D D D D D 3.898 26.300 0.998 D D 0.946 12.312 0.860 12.156 1.000 0.744 0.588 0.630 0.584 . 5.090 5.090 7.841 0.943 0.596 1.000 1.000 0.997 632 Protein_kinase_domain . . . PAK6 248 0 311 28 0.0825958702064897 TRUE TRUE ENSG00000159433.12 . BCM GRCh38.p13 chr15 42663368 42663368 + C C A Missense_Mutation SNP ENST00000290607.12 exon12 c.C956A p.S319Y exonic ENSG00000159433.12 . nonsynonymous SNV ENSG00000159433.12:ENST00000290607.12:exon12:c.C956A:p.S319Y 15q15.2 C3L-03123 . . . . . . . . . 5.16 D . . . . N M T N 0.329 T T D 0.223 0.398 0.511 . T T T T D T 1.928 18.710 0.995 D N 0.015 2.565 -0.003 2.348 1.000 0.563 0.654 0.602 0.492 . 4.270 4.270 2.120 1.022 0.545 0.008 0.624 0.611 93 Kinesin_motor_domain . . . STARD9 254 0 292 21 0.0670926517571885 TRUE TRUE ENSG00000140326.13 . BCM GRCh38.p13 chr15 42730598 42730598 + C C T Missense_Mutation SNP ENST00000356231.4 exon14 c.G2174A p.R725Q exonic ENSG00000140326.13 . nonsynonymous SNV ENSG00000140326.13:ENST00000356231.4:exon14:c.G2174A:p.R725Q 15q15.2 C3L-03123 . . . . . . . . rs962870388 18.20 D D D D D D M D D 0.767 D D D 0.575 0.476 0.702 0.473 T T D D D D 4.782 33 0.999 D D 0.666 6.664 0.623 6.527 1.000 0.840 0.380 0.737 0.636 . 5.770 5.770 5.818 1.026 0.599 1.000 0.359 0.112 83 . . . ID=COSV100661202;OCCURENCE=1(endometrium) CDAN1 693 0 759 87 0.102836879432624 TRUE NA ENSG00000103995.14 . BCM GRCh38.p13 chr15 48748457 48748457 + A A G Missense_Mutation SNP ENST00000380950.7 exon22 c.T3620C p.V1207A exonic ENSG00000103995.14 . nonsynonymous SNV ENSG00000103995.14:ENST00000380950.7:exon22:c.T3620C:p.V1207A 15q21.1 C3L-03123 . . . . . . . . . 3.20 T T B B N D L T N 0.371 T T T 0.080 0.150 0.685 0.425 T T T T D T 3.277 24.100 0.998 D N 0.177 3.201 0.314 3.800 0.999 0.615 0.654 0.602 0.655 . 5.920 5.920 3.994 1.307 0.751 1.000 1.000 0.999 258 . . . . CEP152 119 0 126 24 0.16 TRUE NA ENSG00000198535.5 . BCM GRCh38.p13 chr15 62068582 62068582 + C C A Missense_Mutation SNP ENST00000355522.5 exon2 c.C969A p.D323E exonic ENSG00000198535.5 . nonsynonymous SNV ENSG00000198535.5:ENST00000355522.5:exon2:c.C969A:p.D323E 15q22.2 C3L-03123 . . . . . . . . . 9.20 D D P P D D M T D 0.206 T T D 0.291 0.306 0.783 . T T T T D T 3.522 24.800 0.994 D N -0.087 2.216 -0.232 1.710 1.000 0.623 0.607 0.378 0.562 . 3.410 1.430 1.577 -0.308 0.522 1.000 0.068 0.844 868 . . . . C2CD4A 328 0 383 32 0.0771084337349398 TRUE TRUE ENSG00000028528.15 . BCM GRCh38.p13 chr15 64136915 64136915 + C C A Missense_Mutation SNP ENST00000559844.6 exon14 c.C1501A p.L501I exonic ENSG00000028528.15 . nonsynonymous SNV ENSG00000028528.15:ENST00000559844.6:exon14:c.C1501A:p.L501I 15q22.31 C3L-03123 . . . . . . . . . 8.20 D D D P D D L T N 0.528 T T T 0.276 0.585 0.253 0.798 T T T T D D 2.985 23.400 0.985 D N -0.024 2.428 -0.031 2.258 1.000 0.737 0.702 0.733 0.714 . 5.660 5.660 0.786 1.026 0.599 0.251 0.992 0.979 337 Sorting_nexin_Vps5-like,_C-terminal . . . SNX1 93 0 127 13 0.0928571428571429 TRUE TRUE ENSG00000103591.13 . BCM GRCh38.p13 chr15 67231846 67231846 + G G A Missense_Mutation SNP ENST00000261880.10 exon5 c.C503T p.A168V exonic ENSG00000103591.13 . nonsynonymous SNV ENSG00000103591.13:ENST00000261880.10:exon5:c.C503T:p.A168V 15q23 C3L-03123 . . . . . . . . . 16.20 D D D D D D M T D 0.978 T T D 0.506 0.765 0.705 0.078 D T D D D D 4.105 27.800 0.999 D D 0.727 7.515 0.692 7.612 1.000 0.732 0.725 0.725 0.728 . 5.210 4.300 9.250 1.176 0.676 1.000 1.000 0.996 929 . . . ID=COSV99971832;OCCURENCE=1(upper_aerodigestive_tract) AAGAB 252 0 289 29 0.0911949685534591 TRUE TRUE ENSG00000103653.16 . BCM GRCh38.p13 chr15 74802448 74802448 + C C T Missense_Mutation SNP ENST00000220003.13 exon13 c.C1288T p.R430W exonic ENSG00000103653.16 . nonsynonymous SNV ENSG00000103653.16:ENST00000220003.13:exon13:c.C1288T:p.R430W 15q24.1 C3L-03123 . . . . . . . . . 17.20 D D D D N D H T D 0.916 D D D 0.788 0.945 0.953 2.473 T D D D D D 3.548 24.900 0.999 D D 0.604 5.961 0.364 4.116 1.000 0.706 0.702 0.710 0.714 . 4.280 2.300 2.591 0.050 0.599 0.980 0.378 0.565 309 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . ID=COSV54974500;OCCURENCE=1(large_intestine),1(central_nervous_system) CSK 384 1 470 54 0.103053435114504 TRUE TRUE ENSG00000188869.13 . BCM GRCh38.p13 chr15 81332840 81332840 + C C T Missense_Mutation SNP ENST00000359440.6 exon22 c.G2882A p.R961H exonic ENSG00000188869.13 . nonsynonymous SNV ENSG00000188869.13:ENST00000359440.6:exon22:c.G2882A:p.R961H 15q25.1 C3L-03123 8.891e-06 0 0 0.0001 0 0 0 0 rs779434727 0.20 T T B B U N L T N 0.047 T T T 0.072 0.146 0.360 0.187 T T T T T T -0.050 1.052 0.976 N N -0.910 0.508 -0.959 0.541 1.000 0.554 0.547 0.602 0.542 . 5.310 0.120 -0.068 0.125 0.599 0.000 0.000 0.004 929 . . . ID=COSV63923699;OCCURENCE=1(liver) TMC3 167 0 193 23 0.106481481481481 TRUE TRUE ENSG00000183571.11 . BCM GRCh38.p13 chr15 98969537 98969537 + C C T Missense_Mutation SNP ENST00000378919.6 exon4 c.G259A p.V87M exonic ENSG00000183571.11 . nonsynonymous SNV ENSG00000183571.11:ENST00000378919.6:exon4:c.G259A:p.V87M 15q26.3 C3L-03123 4.141e-05 0 0 0.0001 0.0002 4.498e-05 0 0 rs761032396 5.20 D D D P N N M T N 0.222 T T T 0.089 0.376 0.257 0.249 T T T T T T 1.914 18.590 0.998 D N 0.375 4.195 0.270 3.548 0.999 0.568 0.547 0.573 0.613 . 4.370 4.370 1.979 1.026 0.599 0.927 0.053 0.140 982 . . . ID=COSV100967265;OCCURENCE=1(large_intestine),1(lung) PGPEP1L 820 1 864 117 0.119266055045872 TRUE NA ENSG00000154237.13 . BCM GRCh38.p13 chr15 101027364 101027364 + C C T Nonsense_Mutation SNP ENST00000388948.8 exon18 c.C2509T p.R837X exonic ENSG00000154237.13 . stopgain ENSG00000154237.13:ENST00000388948.8:exon18:c.C2509T:p.R837X 15q26.3 C3L-03123 . . . . . . . . . 4.6 . . . . N A . . . 0.903 . . . . . . . . . D D . . 8.127 41 0.996 D N 0.271 3.634 0.002 2.367 1.000 0.672 0.702 0.608 0.636 . 5.340 -1.290 2.068 -0.352 0.599 0.997 0.485 0.915 854 . . . . LRRK1 155 0 178 20 0.101010101010101 TRUE NA ENSG00000063854.13 . BCM GRCh38.p13 chr16 1819127 1819127 + C C T Missense_Mutation SNP ENST00000397356.8 exon5 c.G529A p.A177T exonic ENSG00000063854.13 . nonsynonymous SNV ENSG00000063854.13:ENST00000397356.8:exon5:c.G529A:p.A177T 16p13.3 C3L-03123 8.738e-06 0 8.956e-05 0 0 0 0 0 rs749671466 15.20 D D D D D D M T D 0.674 D D D 0.516 0.458 0.820 0.280 T T T T D D 3.001 23.400 0.998 D D 0.316 3.863 0.143 2.916 0.931 0.707 0.644 0.571 0.714 . 4.920 3.960 5.291 1.025 0.593 1.000 0.328 0.161 616 Hydroxyacylglutathione_hydrolase,_MBL_domain;Metallo-beta-lactamase . . . HAGH 133 0 155 20 0.114285714285714 TRUE NA ENSG00000131653.13 . BCM GRCh38.p13 chr16 2175146 2175146 + T T C Missense_Mutation SNP ENST00000326181.11 exon15 c.T1382C p.I461T exonic ENSG00000131653.13 . nonsynonymous SNV ENSG00000131653.13:ENST00000326181.11:exon15:c.T1382C:p.I461T 16p13.3 C3L-03123 . . . . . . . . . 14.20 D D P P D D M T D 0.942 T T D 0.710 0.646 0.775 2.373 D T D D D D 3.873 26.200 0.993 D D 0.528 5.264 0.498 5.141 0.999 0.672 0.702 0.702 0.711 . 5.310 4.220 2.776 1.138 0.665 1.000 1.000 0.991 637 WD40_repeat,_conserved_site;WD40-repeat-containing_domain . . . TRAF7 291 0 287 46 0.138138138138138 TRUE TRUE ENSG00000067365.15 . BCM GRCh38.p13 chr16 8642565 8642565 + G G T Missense_Mutation SNP ENST00000381920.8 exon9 c.G1010T p.R337M exonic ENSG00000067365.15 . nonsynonymous SNV ENSG00000067365.15:ENST00000381920.8:exon9:c.G1010T:p.R337M 16p13.2 C3L-03123 . . . . . . . . . 15.20 D D D D D D H T D 0.932 T T D 0.526 0.747 0.880 0.127 T T D D D D 6.502 36 0.962 D D 0.790 8.585 0.673 7.277 1.000 0.707 0.725 0.725 0.636 . 4.050 4.050 8.018 1.176 0.676 1.000 1.000 0.979 . . . . . METTL22 255 0 320 57 0.151193633952255 TRUE TRUE ENSG00000103381.12 . BCM GRCh38.p13 chr16 12781200 12781200 + T T C Missense_Mutation SNP ENST00000381774.9 exon2 c.A274G p.I92V exonic ENSG00000103381.12 . nonsynonymous SNV ENSG00000103381.12:ENST00000381774.9:exon2:c.A274G:p.I92V 16p13.12 C3L-03123 . . . . . . . . . 2.20 T T B B N N N D N 0.143 T T D 0.198 0.599 0.452 0.047 T T T T T T 0.196 3.081 0.533 N N -0.989 0.416 -0.816 0.735 0.003 0.706 0.725 0.710 0.714 . 5.250 0.101 -0.243 -0.142 0.665 0.483 0.982 0.911 976 Calcineurin-like_phosphoesterase_domain,_ApaH_type . . . CPPED1 283 0 310 54 0.148351648351648 TRUE TRUE ENSG00000166847.10 . BCM GRCh38.p13 chr16 23665629 23665629 + C C T Missense_Mutation SNP ENST00000300087.7 exon5 c.C352T p.R118C exonic ENSG00000166847.10 . nonsynonymous SNV ENSG00000166847.10:ENST00000300087.7:exon5:c.C352T:p.R118C 16p12.2 C3L-03123 8.283e-06 0 0 0 0 1.504e-05 0 0 rs373307086 12.20 T T B B D D M T D 0.866 T T D 0.577 . 0.831 2.151 D D T D D D 3.861 26.100 0.995 D D 0.239 3.481 0.336 3.935 1.000 0.707 0.702 0.725 0.714 . 5.500 4.550 7.291 1.026 0.599 1.000 0.996 0.988 379 . . . ID=COSV55614942;OCCURENCE=3(large_intestine),1(lung) DCTN5 177 0 178 32 0.152380952380952 TRUE TRUE ENSG00000140691.17 . BCM GRCh38.p13 chr16 31466651 31466651 + G G A Missense_Mutation SNP ENST00000268314.9 exon6 c.G2570A p.R857H exonic ENSG00000140691.17 . nonsynonymous SNV ENSG00000140691.17:ENST00000268314.9:exon6:c.G2570A:p.R857H 16p11.2 C3L-03123 4.255e-05 0 0 0 0 3.717e-05 0 0.0001 rs780179674 1.20 T T B B N D L T N 0.172 T T T 0.017 . 0.184 0.746 T T T T T T 0.748 8.890 0.992 N N -0.721 0.778 -0.597 1.050 0.958 0.732 0.702 0.744 0.636 . 5.070 1.990 0.031 0.222 0.665 0.000 0.755 0.602 371 . . . . ARMC5 160 0 236 24 0.0923076923076923 TRUE NA ENSG00000256812.2 . BCM GRCh38.p13 chr16 55567279 55567279 + C C T Missense_Mutation SNP ENST00000457326.3 exon1 c.C523T p.R175W exonic ENSG00000256812.2 . nonsynonymous SNV ENSG00000256812.2:ENST00000457326.3:exon1:c.C523T:p.R175W 16q12.2 C3L-03123 . . . . . . . . rs981036666 9.19 D D D P . D M T D 0.392 T T D 0.275 0.569 0.694 0.331 T T T T D T 3.882 26.200 0.999 D N 0.472 4.824 0.447 4.712 1.000 0.487 0.574 0.574 0.323 . 5.980 3.850 2.349 1.018 0.599 0.971 0.983 0.995 719 EF-hand_domain . . . CAPNS2 218 1 255 35 0.120689655172414 TRUE NA ENSG00000159753.14 . BCM GRCh38.p13 chr16 67646484 67646484 + C C A Missense_Mutation SNP ENST00000334583.11 exon6 c.C433A p.P145T exonic ENSG00000159753.14 . nonsynonymous SNV ENSG00000159753.14:ENST00000334583.11:exon6:c.C433A:p.P145T 16q22.1 C3L-03123 . . . . . . . . . 1.19 T T B B N D . T N 0.322 T T T 0.031 0.231 0.105 0.248 T T T T T T 0.105 2.133 0.874 N N -1.076 0.328 -1.024 0.459 1.000 0.726 0.594 0.673 0.563 . 4.870 0.519 -0.157 -0.234 -0.175 0.000 0.004 0.009 45 . . . . CARMIL2 244 0 295 45 0.132352941176471 TRUE TRUE ENSG00000159792.10 . BCM GRCh38.p13 chr16 67909297 67909297 + G G A Missense_Mutation SNP ENST00000291041.6 exon2 c.G548A p.R183H exonic ENSG00000159792.10 . nonsynonymous SNV ENSG00000159792.10:ENST00000291041.6:exon2:c.G548A:p.R183H 16q22.1 C3L-03123 0.0006 0.0003 0.0013 0 0.0005 0.0008 0 0 rs141391249 13.20 D D D D D D L T D 0.846 T T D 0.568 . 0.820 1.900 D T T D T D 4.320 29.700 0.999 D D 0.285 3.704 0.288 3.650 1.000 0.732 0.702 0.744 0.714 . 5.530 4.580 8.002 1.176 0.676 1.000 0.796 0.979 8 Protein_kinase_domain . . ID=COSV52122721;OCCURENCE=2(large_intestine) PSKH1 195 2 280 17 0.0572390572390572 TRUE TRUE ENSG00000132600.16 . BCM GRCh38.p13 chr16 68353508 68353508 + G G A Missense_Mutation SNP ENST00000339507.9 exon16 c.G1592A p.R531Q exonic ENSG00000132600.16 . nonsynonymous SNV ENSG00000132600.16:ENST00000339507.9:exon16:c.G1592A:p.R531Q 16q22.1 C3L-03123 . . . . . . . . . 14.20 D D D D D D M T D 0.935 T T T 0.440 0.626 0.664 0.620 T T D D D D 4.852 33 0.999 D D 0.954 12.544 0.939 15.514 1.000 0.707 0.725 0.725 0.714 . 5.950 5.950 9.250 1.176 0.671 1.000 1.000 1.000 42 . . . . PRMT7 198 0 247 43 0.148275862068966 TRUE NA ENSG00000140835.9 . BCM GRCh38.p13 chr16 71537616 71537616 + G G T Missense_Mutation SNP ENST00000338482.5 exon3 c.G939T p.K313N exonic ENSG00000140835.9 . nonsynonymous SNV ENSG00000140835.9:ENST00000338482.5:exon3:c.G939T:p.K313N 16q22.2 C3L-03123 . . . . . . . . . 7.20 T T P P D D M T N 0.432 T T D 0.338 0.365 0.843 0.764 T T T T D T 3.505 24.700 0.998 D D 0.317 3.870 0.363 4.105 0.797 0.744 0.685 0.630 0.584 . 6.020 5.060 1.358 1.176 0.676 1.000 0.987 0.949 222 Sulfotransferase_domain . . . CHST4 355 0 404 48 0.106194690265487 TRUE TRUE ENSG00000102984.15 . BCM GRCh38.p13 chr16 71860380 71860380 + G G A Missense_Mutation SNP ENST00000425432.6 exon8 c.C877T p.R293W exonic ENSG00000102984.15 . nonsynonymous SNV ENSG00000102984.15:ENST00000425432.6:exon8:c.C877T:p.R293W 16q22.2 C3L-03123 . . . . . . . . . 15.20 D D D D D D L T D 0.738 T T D 0.236 0.247 0.320 2.032 D T D D D D 4.105 27.800 0.999 D D 0.585 5.775 0.565 5.813 0.990 0.745 0.702 0.732 0.636 . 5.750 4.780 3.516 0.161 0.676 1.000 0.996 0.999 81 . . . . ZNF821 557 0 629 74 0.105263157894737 TRUE TRUE ENSG00000141258.13 . BCM GRCh38.p13 chr17 2379468 2379468 + G G A Missense_Mutation SNP ENST00000426855.6 exon23 c.G2969A p.R990Q exonic ENSG00000141258.13 . nonsynonymous SNV ENSG00000141258.13:ENST00000426855.6:exon23:c.G2969A:p.R990Q 17p13.3 C3L-03123 8.454e-06 0 0 0.0001 0 0 0 0 rs373345397 3.20 T T B B N D N T N 0.114 T T T 0.081 . 0.236 0.151 T T T T T D 2.514 22.500 0.970 D N -0.539 1.101 -0.283 1.599 0.999 0.707 0.644 0.723 0.714 . 5.410 4.420 1.026 0.222 0.676 0.775 0.993 0.958 675 . . . . SGSM2 186 0 211 41 0.162698412698413 TRUE NA ENSG00000182327.8 . BCM GRCh38.p13 chr17 4789877 4789877 + G G A Missense_Mutation SNP ENST00000331264.8 exon4 c.G457A p.A153T exonic ENSG00000182327.8 . nonsynonymous SNV ENSG00000182327.8:ENST00000331264.8:exon4:c.G457A:p.A153T 17p13.2 C3L-03123 . . . . . . . . . 0.19 T T B B N N N . N 0.037 T T T 0.092 0.549 0.030 0.794 T T T T T T 0.542 6.940 0.843 N N -1.171 0.248 -1.175 0.304 1.000 0.437 0.166 0.504 0.604 . 4.590 -0.171 -0.425 -0.115 0.656 0.000 0.027 0.398 382 Glycolipid_transfer_protein_domain . . . GLTPD2 329 0 342 60 0.149253731343284 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674953 7674953 + T T A Missense_Mutation SNP ENST00000269305.8 exon6 c.A578T p.H193L exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon6:c.A578T:p.H193L 17p13.1 C3L-03123 . . . . . . . . rs786201838 18.20 D D D D D D M D D 0.954 D D D 0.864 0.941 0.998 1.846 T D D D D T 4.270 29.300 0.932 D D 0.484 4.915 0.345 3.989 0.963 0.722 0.698 0.702 0.735 . 5.410 4.330 8.017 1.138 0.665 1.000 0.997 0.987 433 p53,_DNA-binding_domain . . ID=COSV52663304;OCCURENCE=9(breast),4(liver),14(oesophagus),1(adrenal_gland),6(large_intestine),3(central_nervous_system),1(biliary_tract),6(ovary),6(haematopoietic_and_lymphoid_tissue),3(stomach),4(pancreas),2(skin),2(prostate),7(lung),18(upper_aerodigestive_tract),3(endometrium) TP53 591 0 591 133 0.183701657458564 TRUE TRUE ENSG00000065325.13 . BCM GRCh38.p13 chr17 9836458 9836458 + T T C Missense_Mutation SNP ENST00000262441.10 exon3 c.T365C p.L122S exonic ENSG00000065325.13 . nonsynonymous SNV ENSG00000065325.13:ENST00000262441.10:exon3:c.T365C:p.L122S 17p13.1 C3L-03123 . . . . . . . . . 14.19 D D D D N D . T D 0.905 D D D 0.664 0.732 0.951 1.153 T T D D D T 4.343 29.900 0.999 D D 0.865 10.184 0.804 10.244 1.000 0.487 0.574 0.547 0.613 . 5.480 5.480 6.945 1.138 0.665 1.000 1.000 0.999 922 GPCR,_family_2,_extracellular_hormone_receptor_domain . . . GLP2R 299 0 313 70 0.182767624020888 TRUE TRUE ENSG00000091536.19 . BCM GRCh38.p13 chr17 18121256 18121256 + C C T Missense_Mutation SNP ENST00000647165.2 exon2 c.C2456T p.S819L exonic ENSG00000091536.19 . nonsynonymous SNV ENSG00000091536.19:ENST00000647165.2:exon2:c.C2456T:p.S819L 17p11.2 C3L-03123 . . . . . . . . . 8.19 D D D B . N M D N 0.356 T T D 0.289 0.276 0.724 . D T T T T T 1.833 17.970 0.992 D N -0.189 1.909 -0.241 1.691 0.095 0.517 0.547 0.479 0.563 . 4.360 4.360 0.112 0.835 0.439 0.000 0.009 0.006 247 . . . . MYO15A 165 0 141 19 0.11875 TRUE TRUE ENSG00000188522.15 . BCM GRCh38.p13 chr17 18977771 18977771 + C C T Missense_Mutation SNP ENST00000388995.11 exon5 c.G1895A p.R632H exonic ENSG00000188522.15 . nonsynonymous SNV ENSG00000188522.15:ENST00000388995.11:exon5:c.G1895A:p.R632H 17p11.2 C3L-03123 5.232e-05 0.0001 0 0.0001 0 4.667e-05 0 7.349e-05 rs374490985 2.20 T T B B N D L T N 0.245 T T T 0.033 . 0.257 0.226 T T T T T T 2.238 21.100 0.997 D N -0.247 1.747 -0.084 2.093 0.496 0.707 0.702 0.725 0.714 . 5.800 3.770 1.978 0.947 0.597 1.000 1.000 0.963 819 . . . ID=COSV58756809;OCCURENCE=2(liver),1(endometrium) FAM83G 157 0 128 21 0.140939597315436 TRUE TRUE ENSG00000188522.15 . BCM GRCh38.p13 chr17 18978827 18978827 + G G A Missense_Mutation SNP ENST00000388995.11 exon5 c.C839T p.T280M exonic ENSG00000188522.15 . nonsynonymous SNV ENSG00000188522.15:ENST00000388995.11:exon5:c.C839T:p.T280M 17p11.2 C3L-03123 0.0002 0 0 0 0 3.111e-05 0 0.0012 rs746971207 7.20 T T D D D D L T N 0.694 T T T 0.248 0.481 0.560 1.709 T T T T T D 3.062 23.500 0.999 D D 0.531 5.284 0.567 5.839 0.999 0.707 0.725 0.725 0.636 . 5.220 5.220 6.237 1.176 0.674 1.000 0.779 0.649 819 . . . . FAM83G 173 0 209 49 0.189922480620155 TRUE NA ENSG00000141068.14 . BCM GRCh38.p13 chr17 27605509 27605509 + C C T Missense_Mutation SNP ENST00000644974.1 exon14 c.C1690T p.R564W exonic ENSG00000141068.14 . nonsynonymous SNV ENSG00000141068.14:ENST00000644974.1:exon14:c.C1690T:p.R564W 17q11.2 C3L-03123 . . . . . . . . rs879225861 4.15 . D . . N N . T . 0.076 T T D 0.293 . 0.352 0.380 T T T T T D 2.450 22.300 0.997 D N -0.305 1.602 -0.103 2.038 0.100 0.707 0.654 0.805 0.714 . 5.670 3.500 0.880 1.026 0.599 1.000 1.000 0.988 133 . . . ID=COSV52028283;OCCURENCE=1(large_intestine) KSR1 581 0 676 119 0.149685534591195 TRUE TRUE ENSG00000132589.16 . BCM GRCh38.p13 chr17 28883147 28883147 + C C T Missense_Mutation SNP ENST00000394908.9 exon4 c.G307A p.V103I exonic ENSG00000132589.16 . nonsynonymous SNV ENSG00000132589.16:ENST00000394908.9:exon4:c.G307A:p.V103I 17q11.2 C3L-03123 8.288e-06 0 8.642e-05 0 0 0 0 0 rs777162321 6.20 T T B B D D N D N 0.352 T T D 0.357 . 0.756 0.449 T T T T T D 1.641 16.640 0.908 D N -0.393 1.399 -0.093 2.066 1.000 0.672 0.702 0.702 0.711 . 5.670 5.670 3.247 1.026 0.599 0.996 1.000 0.998 221 Band_7_domain . . ID=COSV67529033;OCCURENCE=1(liver),1(testis),1(endometrium) FLOT2 310 0 364 57 0.135391923990499 TRUE TRUE ENSG00000270765.6 . BCM GRCh38.p13 chr17 35745986 35745986 + G G T Missense_Mutation SNP ENST00000604641.6 exon6 c.C1511A p.P504H exonic ENSG00000270765.6 . nonsynonymous SNV ENSG00000270765.6:ENST00000604641.6:exon6:c.C1511A:p.P504H 17q12 C3L-03123 . . . . . . . . . 8.18 . D D D D D L T . 0.343 T T D 0.190 0.494 0.777 . T T T T D T 3.400 24.400 0.996 D N 0.193 3.273 0.128 2.854 0.000 0.517 0.590 0.479 0.563 . 5.190 4.210 2.822 1.176 0.676 0.613 0.363 0.190 461 . . . . GAS2L2 91 0 105 13 0.110169491525424 TRUE TRUE ENSG00000033627.16 . BCM GRCh38.p13 chr17 42468069 42468069 + C C A Missense_Mutation SNP ENST00000343619.8 exon4 c.C256A p.P86T exonic ENSG00000033627.16 . nonsynonymous SNV ENSG00000033627.16:ENST00000343619.8:exon4:c.C256A:p.P86T 17q21.2 C3L-03123 . . . . . . . . . 20.20 D D D D D D M D D 0.707 D D D 0.810 0.544 0.303 2.089 D D D D D D 3.625 25.100 0.998 D D 0.894 10.900 0.892 13.402 1.000 0.732 0.744 0.744 0.728 . 5.990 5.990 7.874 1.023 0.599 1.000 1.000 0.998 197 . . . . ATP6V0A1 199 0 273 30 0.099009900990099 TRUE TRUE ENSG00000182575.8 . BCM GRCh38.p13 chr17 49579101 49579101 + G G A Missense_Mutation SNP ENST00000328741.6 exon2 c.G560A p.R187Q exonic ENSG00000182575.8 . nonsynonymous SNV ENSG00000182575.8:ENST00000328741.6:exon2:c.G560A:p.R187Q 17q21.33 C3L-03123 . . . . . . . . rs374258057 6.19 T D D P N D L . N 0.182 T T T 0.290 . 0.202 0.753 T T T T D D 4.025 27.200 0.999 D N 0.496 5.008 0.491 5.080 1.000 0.696 0.588 0.723 0.605 . 4.440 4.440 5.312 1.164 0.660 1.000 1.000 0.999 869 . . . ID=COSV60872825;OCCURENCE=1(large_intestine) NXPH3 394 1 511 55 0.0971731448763251 TRUE TRUE ENSG00000136449.15 . BCM GRCh38.p13 chr17 50531426 50531426 + T T C Nonstop_Mutation SNP ENST00000323776.11 exon19 c.T2824C p.X942R exonic ENSG00000136449.15 . stoploss ENSG00000136449.15:ENST00000323776.11:exon19:c.T2824C:p.X942R 17q21.33 C3L-03123 . . . . . . . . . 0.4 . . . . . N . . . 0.016 . . . . . . . . . T T . . 0.639 7.890 0.840 N . 0.344 4.016 0.024 2.444 1.000 0.119 0.060 0.068 0.128 0.054 5.310 4.200 0.907 1.138 0.654 0.153 0.063 0.025 940 . . . . MYCBPAP 207 0 263 39 0.129139072847682 TRUE TRUE ENSG00000154945.7 . BCM GRCh38.p13 chr17 50699720 50699720 + C C T Missense_Mutation SNP ENST00000285243.7 exon3 c.G457A p.A153T exonic ENSG00000154945.7 . nonsynonymous SNV ENSG00000154945.7:ENST00000285243.7:exon3:c.G457A:p.A153T 17q21.33 C3L-03123 . . . . . . . . . 0.20 T T B B N N L T N 0.103 T T T 0.034 0.333 0.143 0.289 T T T T T T 1.294 14.340 0.717 N N -0.618 0.955 -0.566 1.097 1.000 0.707 0.725 0.725 0.714 . 5.070 4.080 2.855 1.026 0.599 0.056 0.840 0.947 878 . . . ID=COSV53334620;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) ANKRD40 141 0 156 31 0.165775401069519 TRUE TRUE ENSG00000176160.11 . BCM GRCh38.p13 chr17 58487752 58487752 + G G A Missense_Mutation SNP ENST00000323777.8 exon1 c.C523T p.P175S exonic ENSG00000176160.11 . nonsynonymous SNV ENSG00000176160.11:ENST00000323777.8:exon1:c.C523T:p.P175S 17q22 C3L-03123 . . . . . . . . . 2.15 D T . . N N . T N 0.228 T T T 0.055 0.261 0.297 1.383 T . T T T . 1.770 17.520 0.917 D N -0.770 0.700 -0.675 0.935 1.000 0.422 0.600 0.596 0.555 . 3.550 2.570 1.109 1.137 0.587 0.978 0.207 0.048 307 . . . . HSF5 94 0 63 15 0.192307692307692 TRUE TRUE ENSG00000161509.14 . BCM GRCh38.p13 chr17 74850294 74850294 + A A G Missense_Mutation SNP ENST00000293190.10 exon6 c.T1403C p.V468A exonic ENSG00000161509.14 . nonsynonymous SNV ENSG00000161509.14:ENST00000293190.10:exon6:c.T1403C:p.V468A 17q25.1 C3L-03123 . . . . . . . . . 1.20 T T B B N N N T N 0.122 T T T 0.031 0.491 0.500 0.578 T T T T T T 1.779 17.580 0.941 D N -0.554 1.073 -0.367 1.433 0.010 0.598 0.551 0.596 0.605 . 4.510 2.050 1.284 1.312 0.756 0.997 1.000 0.996 895 Ionotropic_glutamate_receptor,_L-glutamate_and_glycine-binding_domain;Ionotropic_glutamate_receptor . . . GRIN2C 419 2 504 80 0.136986301369863 TRUE TRUE ENSG00000183034.13 . BCM GRCh38.p13 chr17 74933527 74933527 + G G T Missense_Mutation SNP ENST00000331427.9 exon7 c.G1671T p.E557D exonic ENSG00000183034.13 . nonsynonymous SNV ENSG00000183034.13:ENST00000331427.9:exon7:c.G1671T:p.E557D 17q25.1 C3L-03123 . . . . . . . . . 10.20 D D D D D D M T N 0.834 T T T 0.221 0.859 0.229 0.630 T T T T D T 3.592 25.000 0.999 D D 0.596 5.884 0.556 5.708 0.436 0.598 0.563 0.616 0.639 . 4.620 4.620 2.326 1.176 0.674 1.000 1.000 0.978 923 . . . . OTOP2 68 0 72 12 0.142857142857143 TRUE TRUE ENSG00000070495.14 . BCM GRCh38.p13 chr17 76723975 76723975 + T T C Missense_Mutation SNP ENST00000397625.8 exon3 c.A602G p.Q201R exonic ENSG00000070495.14 . nonsynonymous SNV ENSG00000070495.14:ENST00000397625.8:exon3:c.A602G:p.Q201R 17q25.1 C3L-03123 . . . . . . . . . 6.20 T T B B D D N T N 0.714 T T T 0.215 0.452 0.709 0.614 T T T T D D 2.435 22.200 0.958 D D -0.102 2.169 0.122 2.826 1.000 0.745 0.672 0.732 0.735 . 5.160 5.160 8.006 1.129 0.654 1.000 1.000 0.997 822 JmjC_domain . . . JMJD6 508 0 571 103 0.152818991097923 TRUE TRUE ENSG00000187775.17 . BCM GRCh38.p13 chr17 78486285 78486285 + T T C Missense_Mutation SNP ENST00000389840.7 exon45 c.A7040G p.Y2347C exonic ENSG00000187775.17 . nonsynonymous SNV ENSG00000187775.17:ENST00000389840.7:exon45:c.A7040G:p.Y2347C 17q25.3 C3L-03123 . . . . . . . . . 6.12 . . . . . D . T . 0.888 T T T 0.367 . 0.270 . T . D T D D 4.342 29.900 0.998 D D 0.546 5.415 0.515 5.296 1.000 0.543 0.686 0.602 0.563 . 4.560 4.560 7.783 1.049 0.665 1.000 1.000 0.982 908 . . . . DNAH17 81 0 112 13 0.104 TRUE TRUE ENSG00000266074.8 . BCM GRCh38.p13 chr17 81442176 81442176 + G G A Missense_Mutation SNP ENST00000584436.7 exon5 c.G827A p.R276H exonic ENSG00000266074.8 . nonsynonymous SNV ENSG00000266074.8:ENST00000584436.7:exon5:c.G827A:p.R276H 17q25.3 C3L-03123 0 0 0 0 0 0 0 0 rs782588265 6.19 T T B B . D M T N 0.542 T T D 0.082 0.252 0.048 0.510 T T T T D D 3.258 24.000 0.999 D N -0.142 2.046 -0.098 2.052 0.595 0.646 0.547 0.576 0.700 . 3.770 3.770 1.390 1.160 0.597 0.034 0.997 0.734 . . . . . BAHCC1 92 0 146 29 0.165714285714286 TRUE NA ENSG00000183010.17 . BCM GRCh38.p13 chr17 81933227 81933227 + G G A Missense_Mutation SNP ENST00000329875.13 exon7 c.C947T p.A316V exonic ENSG00000183010.17 . nonsynonymous SNV ENSG00000183010.17:ENST00000329875.13:exon7:c.C947T:p.A316V 17q25.3 C3L-03123 1.664e-05 0 0 0 0 3.038e-05 0 0 rs781071840 2.20 T T B B N N M T N 0.099 T T D 0.190 0.084 0.567 0.121 T T T T T T 0.826 9.650 0.515 N N -1.352 0.138 -1.417 0.143 0.989 0.672 0.698 0.644 0.711 . 3.460 -0.061 1.097 -0.120 -0.682 0.002 0.002 0.011 . . . . . PYCR1 391 0 482 70 0.126811594202899 TRUE NA ENSG00000169710.9 . BCM GRCh38.p13 chr17 82093369 82093369 + G G A Nonsense_Mutation SNP ENST00000306749.4 exon5 c.C505T p.Q169X exonic ENSG00000169710.9 . stopgain ENSG00000169710.9:ENST00000306749.4:exon5:c.C505T:p.Q169X 17q25.3 C3L-03123 . . . . . . . . . 4.6 . . . . N A . . . 0.923 . . . . . . . . . D D . . 6.115 35 0.997 D N 0.467 4.790 0.206 3.214 1.000 0.672 0.702 0.702 0.711 . 4.770 2.630 4.548 0.223 -0.110 1.000 0.018 0.013 . Polyketide_synthase,_beta-ketoacyl_synthase_domain;Beta-ketoacyl_synthase,_N-terminal . . . FASN 378 0 440 73 0.142300194931774 TRUE TRUE ENSG00000168675.18 . BCM GRCh38.p13 chr18 13621215 13621215 + C C T Missense_Mutation SNP ENST00000359446.9 exon4 c.C280T p.R94W exonic ENSG00000168675.18 . nonsynonymous SNV ENSG00000168675.18:ENST00000359446.9:exon4:c.C280T:p.R94W 18p11.21 C3L-03123 . . . . . . . . rs948982534 6.20 T T B B D D L T D 0.413 T T T 0.070 . 0.380 . T T T T D D 2.395 22.100 0.993 D N -0.465 1.247 -0.341 1.483 1.000 0.635 0.644 0.602 0.586 . 5.580 2.710 2.942 0.129 -0.218 0.995 0.994 0.993 917 . . . . LDLRAD4 344 0 455 41 0.0826612903225806 TRUE NA ENSG00000101752.11 . BCM GRCh38.p13 chr18 21791552 21791552 + C C T Missense_Mutation SNP ENST00000261537.6 exon7 c.C1087T p.L363F exonic ENSG00000101752.11 . nonsynonymous SNV ENSG00000101752.11:ENST00000261537.6:exon7:c.C1087T:p.L363F 18q11.2 C3L-03123 . . . . . . . . . 13.20 D D P D D D L T N 0.719 T T D 0.323 0.335 0.262 0.859 D T D D D D 2.907 23.200 0.999 D D 0.524 5.229 0.641 6.775 1.000 0.732 0.725 0.725 0.728 . 6.170 6.170 7.893 1.011 0.581 1.000 1.000 0.998 889 . . . . MIB1 132 0 159 20 0.111731843575419 TRUE TRUE ENSG00000215474.8 . BCM GRCh38.p13 chr18 47248100 47248100 + C C T Missense_Mutation SNP ENST00000425639.3 exon2 c.G1084A p.V362M exonic ENSG00000215474.8 . nonsynonymous SNV ENSG00000215474.8:ENST00000425639.3:exon2:c.G1084A:p.V362M 18q21.1 C3L-03123 . . . . . . . . . 5.15 D T . . . D . T N 0.164 T T D 0.074 0.236 0.439 0.956 D . T T T T 2.448 22.300 0.979 D N -0.280 1.663 -0.303 1.558 0.999 0.598 0.590 0.596 0.639 . 2.540 2.540 3.177 0.757 0.482 0.024 0.298 0.154 872 . . . . SKOR2 80 0 75 11 0.127906976744186 TRUE NA ENSG00000150637.9 . BCM GRCh38.p13 chr18 69895806 69895806 + C C T Missense_Mutation SNP ENST00000582621.6 exon3 c.G622A p.V208I exonic ENSG00000150637.9 . nonsynonymous SNV ENSG00000150637.9:ENST00000582621.6:exon3:c.G622A:p.V208I 18q22.2 C3L-03123 7.413e-05 0.0004 0 0 0 0 0 0.0003 rs143019865 0.20 T T B B N N N T N 0.081 T T T 0.006 . 0.401 0.153 T T T T T T -1.362 0.001 0.747 N N -2.127 0.005 -2.199 0.005 1.000 0.722 0.699 0.006 0.564 . 4.820 -9.640 -2.138 -2.803 -1.604 0.000 0.000 0.000 994 Immunoglobulin_subtype_2;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV54614593;OCCURENCE=1(large_intestine) CD226 522 0 567 70 0.10989010989011 TRUE TRUE ENSG00000131196.17 . BCM GRCh38.p13 chr18 79451120 79451120 + G G A Missense_Mutation SNP ENST00000427363.6 exon5 c.G1756A p.E586K exonic ENSG00000131196.17 . nonsynonymous SNV ENSG00000131196.17:ENST00000427363.6:exon5:c.G1756A:p.E586K 18q23 C3L-03123 . . . . . . . . . 17.20 D D D D D D M T D 0.920 T T D 0.496 0.583 0.624 2.011 D D D D D D 4.654 32 0.999 D D 0.693 7.018 0.585 6.046 0.999 0.672 0.702 0.645 0.636 . 4.650 4.650 7.544 1.121 0.676 1.000 0.941 0.663 . Rel_homology_domain_(RHD),_DNA-binding_domain . . ID=COSV99501587;OCCURENCE=1(skin),1(endometrium) NFATC1 138 0 160 21 0.116022099447514 TRUE TRUE ENSG00000175221.15 . BCM GRCh38.p13 chr19 872001 872001 + C C T Missense_Mutation SNP ENST00000325464.6 exon12 c.G2023A p.V675M exonic ENSG00000175221.15 . nonsynonymous SNV ENSG00000175221.15:ENST00000325464.6:exon12:c.G2023A:p.V675M 19p13.3 C3L-03123 . . . . . . . . . 6.20 D D P P U D L T N 0.661 T T D 0.068 0.374 0.384 . T T T T D D 3.677 25.300 0.999 N N 0.326 3.919 0.292 3.670 1.000 0.718 0.644 0.269 0.553 . 3.960 2.830 2.403 1.016 0.582 0.985 0.987 0.988 994 . . . . MED16 340 0 437 50 0.102669404517454 TRUE NA ENSG00000115268.9 . BCM GRCh38.p13 chr19 1440401 1440401 + T T C Missense_Mutation SNP ENST00000592588.6 exon4 c.T377C p.V126A exonic ENSG00000115268.9 . nonsynonymous SNV ENSG00000115268.9:ENST00000592588.6:exon4:c.T377C:p.V126A 19p13.3 C3L-03123 . . . . . . . . . 10.17 . D P P U D H . . 0.810 D D D 0.292 0.510 0.511 2.132 D T T T D T 3.254 24.000 0.993 D D 0.380 4.223 0.282 3.611 1.000 0.722 0.672 0.686 0.735 . 4.470 3.450 7.848 1.062 0.576 1.000 0.995 0.356 917 . . . . RPS15 886 0 889 134 0.130987292277615 TRUE TRUE ENSG00000186111.10 . BCM GRCh38.p13 chr19 3642935 3642935 + G G A Missense_Mutation SNP ENST00000335312.8 exon14 c.C1654T p.R552C exonic ENSG00000186111.10 . nonsynonymous SNV ENSG00000186111.10:ENST00000335312.8:exon14:c.C1654T:p.R552C 19p13.3 C3L-03123 8.285e-06 9.666e-05 0 0 0 0 0 0 rs367846781 9.20 D D D P U D L T N 0.681 T T D 0.187 . 0.310 1.104 T T T T D D 4.604 32 0.999 D D 0.577 5.698 0.574 5.912 1.000 0.706 0.710 0.571 0.714 . 4.660 4.660 8.223 1.158 0.662 1.000 0.966 0.741 970 . . . ID=COSV58951921;OCCURENCE=1(large_intestine),1(NS) PIP5K1C 391 0 436 53 0.10838445807771 TRUE TRUE ENSG00000127663.15 . BCM GRCh38.p13 chr19 5134011 5134011 + C C T Missense_Mutation SNP ENST00000159111.9 exon14 c.C2035T p.R679C exonic ENSG00000127663.15 . nonsynonymous SNV ENSG00000127663.15:ENST00000159111.9:exon14:c.C2035T:p.R679C 19p13.3 C3L-03123 8.354e-05 9.817e-05 0.0006 0 0 3.051e-05 0 0 rs140874022 2.19 T D P B N N . T N 0.369 T T T 0.065 . 0.159 1.092 T T T T T D 2.042 19.580 0.992 N N -0.447 1.283 -0.566 1.098 0.850 0.707 0.698 0.723 0.714 . 3.980 2.920 1.604 1.026 0.599 0.001 0.006 0.044 970 . . . ID=COSV50222952;OCCURENCE=1(biliary_tract) KDM4B 259 0 279 35 0.111464968152866 TRUE TRUE ENSG00000171017.11 . BCM GRCh38.p13 chr19 7900687 7900687 + G G A Missense_Mutation SNP ENST00000306708.11 exon3 c.G2165A p.R722H exonic ENSG00000171017.11 . nonsynonymous SNV ENSG00000171017.11:ENST00000306708.11:exon3:c.G2165A:p.R722H 19p13.2 C3L-03123 9.183e-05 0 0.0009 0 0 1.526e-05 0 0 rs190239641 1.20 T T B B N N N T N 0.077 T T T 0.023 . 0.607 0.317 T T T T T T 1.879 18.330 0.987 D N -0.508 1.162 -0.454 1.279 1.000 0.646 0.547 0.645 0.568 . 4.350 2.070 2.594 0.245 0.618 0.985 0.649 0.111 879 . . . ID=COSV100142867;OCCURENCE=1(stomach) LRRC8E 230 0 287 37 0.114197530864198 TRUE NA ENSG00000076984.17 . BCM GRCh38.p13 chr19 7910330 7910330 + G G A Nonsense_Mutation SNP ENST00000397979.3 exon4 c.G404A p.W135X exonic ENSG00000076984.17 . stopgain ENSG00000076984.17:ENST00000397979.3:exon4:c.G404A:p.W135X 19p13.2 C3L-03123 . . . . . . . . . 5.6 . . . . D A . . . 0.808 . . . . . . . . . D D . . 8.607 44 0.995 D N 1.090 17.093 0.947 15.909 0.654 0.707 0.702 0.702 0.714 . 5.310 5.310 3.367 1.174 0.676 1.000 1.000 0.996 874 Protein_kinase_domain . . . MAP2K7 309 1 297 59 0.165730337078652 TRUE TRUE ENSG00000127616.18 . BCM GRCh38.p13 chr19 10986949 10986949 + C C - Frame_Shift_Del DEL ENST00000344626.9 exon5 c.805delC p.M272Cfs*31 exonic ENSG00000127616.18 . frameshift deletion ENSG00000127616.18:ENST00000344626.9:exon5:c.805delC:p.M272Cfs*31 19p13.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMARCA4 337 0 396 47 0.106094808126411 NA TRUE ENSG00000008441.16 . BCM GRCh38.p13 chr19 13090316 13090316 + G G A Missense_Mutation SNP ENST00000592199.5 exon10 c.G1420A p.A474T exonic ENSG00000008441.16 . nonsynonymous SNV ENSG00000008441.16:ENST00000592199.5:exon10:c.G1420A:p.A474T 19p13.13 C3L-03123 8.305e-06 0 0 0.0001 0 0 0 0 rs777228135 2.16 . T . . N D N T . 0.091 T T T 0.243 . 0.899 . T T T T T T 0.894 10.380 0.600 D N -0.438 1.302 -0.357 1.451 1.000 0.696 0.588 0.578 0.563 . 4.370 3.330 0.403 0.128 -0.247 0.998 1.000 0.994 798 . . . . NFIX 433 0 475 48 0.0917782026768642 TRUE NA ENSG00000074181.9 . BCM GRCh38.p13 chr19 15161579 15161579 + G G A Missense_Mutation SNP ENST00000263388.7 exon33 c.C6049T p.H2017Y exonic ENSG00000074181.9 . nonsynonymous SNV ENSG00000074181.9:ENST00000263388.7:exon33:c.C6049T:p.H2017Y 19p13.12 C3L-03123 . . . . . . . . . 14.19 D D D D . D L T D 0.668 T T D 0.519 0.498 0.571 1.645 T D D D D D 4.079 27.600 0.998 D D 0.759 8.028 0.692 7.610 1.000 0.696 0.616 0.723 0.639 . 3.920 3.920 9.961 1.176 0.676 1.000 1.000 0.973 940 Ankyrin_repeat-containing_domain . . . NOTCH3 472 1 496 47 0.0865561694290976 TRUE TRUE ENSG00000127527.14 . BCM GRCh38.p13 chr19 16392420 16392420 + A A G Missense_Mutation SNP ENST00000248070.10 exon19 c.T1987C p.F663L exonic ENSG00000127527.14 . nonsynonymous SNV ENSG00000127527.14:ENST00000248070.10:exon19:c.T1987C:p.F663L 19p13.11 C3L-03123 . . . . . . . . . 12.20 D D P B D D M T D 0.723 T T D 0.299 0.252 0.512 0.377 T T D T D D 4.104 27.800 0.998 D D 0.471 4.821 0.470 4.900 0.999 0.719 0.725 0.725 0.734 . 4.440 4.440 8.673 1.207 0.756 1.000 1.000 0.969 970 . . . . EPS15L1 263 0 294 44 0.130177514792899 TRUE TRUE ENSG00000085872.15 . BCM GRCh38.p13 chr19 16525347 16525347 + G G A Missense_Mutation SNP ENST00000546361.7 exon10 c.C1636T p.R546C exonic ENSG00000085872.15 . nonsynonymous SNV ENSG00000085872.15:ENST00000546361.7:exon10:c.C1636T:p.R546C 19p13.11 C3L-03123 . . . . . . . . . 17.19 D D D D . D L D D 0.578 D D D 0.586 0.242 0.911 2.209 D T D D D D 4.584 32 0.999 D D 0.730 7.564 0.715 8.048 1.000 0.707 0.702 0.702 0.714 . 5.130 5.130 7.297 1.075 0.672 1.000 1.000 0.996 799 . . . . CHERP 50 0 50 12 0.193548387096774 TRUE NA ENSG00000099331.13 . BCM GRCh38.p13 chr19 17102118 17102118 + G G A Missense_Mutation SNP ENST00000594824.5 exon2 c.G401A p.R134H exonic ENSG00000099331.13 . nonsynonymous SNV ENSG00000099331.13:ENST00000594824.5:exon2:c.G401A:p.R134H 19p13.11 C3L-03123 1.67e-05 0 0 0.0001 0 1.515e-05 0 0 rs201870397 11.18 T D . . N D L D D 0.196 D D D 0.335 . 0.798 1.802 T T T T D D 3.568 24.900 0.999 D D 0.222 3.404 0.311 3.779 1.000 0.707 0.702 0.725 0.714 . 5.620 5.620 6.286 1.083 0.676 1.000 0.582 0.787 964 . . . . MYO9B 403 0 384 63 0.140939597315436 TRUE NA ENSG00000105669.14 . BCM GRCh38.p13 chr19 18906991 18906991 + G G A Missense_Mutation SNP ENST00000262812.9 exon4 c.C412T p.R138C exonic ENSG00000105669.14 . nonsynonymous SNV ENSG00000105669.14:ENST00000262812.9:exon4:c.C412T:p.R138C 19p13.11 C3L-03123 0 0 0 0 0 0 0 0 rs781041495 15.20 D D D D D D M T D 0.855 T T D 0.419 0.564 0.645 0.763 T T D D D D 4.015 27.100 0.999 D D 0.713 7.307 0.620 6.483 1.000 0.707 0.702 0.644 0.714 . 4.760 4.760 6.062 1.052 0.676 1.000 0.399 0.186 934 . . . . COPE 242 0 258 44 0.145695364238411 TRUE NA ENSG00000198597.9 . BCM GRCh38.p13 chr19 30443936 30443936 + G G A Missense_Mutation SNP ENST00000355537.4 exon2 c.G374A p.R125H exonic ENSG00000198597.9 . nonsynonymous SNV ENSG00000198597.9:ENST00000355537.4:exon2:c.G374A:p.R125H 19q12 C3L-03123 . . . . . . . . rs866467288 11.20 D D D D D D L T N 0.808 T T T 0.304 0.456 0.134 2.089 D T T T D D 4.196 28.600 0.998 D D 0.411 4.410 0.454 4.763 0.999 0.487 0.574 0.578 0.613 . 5.800 5.800 8.182 1.175 0.676 1.000 0.974 0.988 777 . . . ID=COSV62820141;OCCURENCE=2(large_intestine) ZNF536 937 0 1126 87 0.0717230008244023 TRUE TRUE ENSG00000272333.7 . BCM GRCh38.p13 chr19 35720528 35720528 + C C T Missense_Mutation SNP ENST00000420124.4 exon3 c.C1181T p.A394V exonic ENSG00000272333.7 . nonsynonymous SNV ENSG00000272333.7:ENST00000420124.4:exon3:c.C1181T:p.A394V 19q13.12 C3L-03123 . . . . . . . . . 1.19 T T B B . N N T N 0.031 T T D 0.024 . 0.159 . T T T T T T -0.429 0.167 0.737 N N -1.576 0.060 -1.545 0.092 1.000 0.707 0.702 0.723 0.714 . 3.910 0.402 0.306 -1.548 -2.334 0.010 0.001 0.002 733 . . . . KMT2B 88 0 131 14 0.096551724137931 TRUE NA ENSG00000272333.7 . BCM GRCh38.p13 chr19 35733632 35733632 + G G A Missense_Mutation SNP ENST00000420124.4 exon29 c.G6995A p.R2332H exonic ENSG00000272333.7 . nonsynonymous SNV ENSG00000272333.7:ENST00000420124.4:exon29:c.G6995A:p.R2332H 19q13.12 C3L-03123 2.406e-05 0 0 0 0 4.588e-05 0 0 rs758088530 13.20 D D D D N D L D N 0.223 D D D 0.512 0.405 0.445 . T T D T D D 3.148 23.700 0.997 D N 0.442 4.612 0.446 4.699 0.986 0.672 0.702 0.723 0.711 . 5.190 5.190 2.717 1.172 0.672 0.997 0.968 0.530 713 . . . ID=COSV55856608;OCCURENCE=1(endometrium) KMT2B 296 0 358 67 0.157647058823529 TRUE TRUE ENSG00000105254.12 . BCM GRCh38.p13 chr19 36120784 36120784 + A A C Missense_Mutation SNP ENST00000221855.8 exon3 c.A333C p.Q111H exonic ENSG00000105254.12 . nonsynonymous SNV ENSG00000105254.12:ENST00000221855.8:exon3:c.A333C:p.Q111H 19q13.12 C3L-03123 . . . . . . . . . 8.20 D D B B N D L D N 0.281 D D D 0.256 0.266 0.844 0.755 T T T T T T 2.271 21.400 0.982 D N -0.324 1.556 -0.321 1.521 0.999 0.707 0.698 0.269 0.714 . 5.220 -1.150 -0.348 1.312 0.743 0.184 1.000 0.997 382 . . . . TBCB 209 0 287 17 0.0559210526315789 TRUE TRUE ENSG00000099341.11 . BCM GRCh38.p13 chr19 38380903 38380903 + T T C Missense_Mutation SNP ENST00000215071.8 exon5 c.T707C p.L236P exonic ENSG00000099341.11 . nonsynonymous SNV ENSG00000099341.11:ENST00000215071.8:exon5:c.T707C:p.L236P 19q13.2 C3L-03123 . . . . . . . . . 18.19 D D D D D D H . D 0.985 D T D 0.824 0.901 0.797 1.275 D D D D D D 4.416 31 0.999 D D 0.861 10.087 0.812 10.487 1.000 0.707 0.698 0.725 0.714 . 5.560 5.560 7.748 1.138 0.665 1.000 1.000 0.985 603 Proteasome_component_(PCI)_domain;CSN8/PSMD8/EIF3K . . . PSMD8 88 0 162 15 0.0847457627118644 TRUE TRUE ENSG00000131116.12 . BCM GRCh38.p13 chr19 43607976 43607976 + G G A Missense_Mutation SNP ENST00000300811.8 exon3 c.C208T p.R70C exonic ENSG00000131116.12 . nonsynonymous SNV ENSG00000131116.12:ENST00000300811.8:exon3:c.C208T:p.R70C 19q13.31 C3L-03123 5.112e-05 0 0 0 0 9.742e-05 0 0 rs759543944 11.20 D T D D D D N T D 0.633 T T D 0.225 0.333 0.397 1.411 D T T T D D 3.939 26.600 0.999 D N 0.447 4.647 0.466 4.862 1.000 0.672 0.702 0.644 0.711 . 4.700 4.700 2.959 1.172 0.672 1.000 0.984 0.971 895 . . . ID=COSV100334614;OCCURENCE=1(lung) ZNF428 466 0 593 64 0.0974124809741248 TRUE NA ENSG00000267680.5 . BCM GRCh38.p13 chr19 44107061 44107061 + T T C Missense_Mutation SNP ENST00000336976.10 exon6 c.T901C p.S301P exonic ENSG00000267680.5 . nonsynonymous SNV ENSG00000267680.5:ENST00000336976.10:exon6:c.T901C:p.S301P 19q13.31 C3L-03123 . . . . . . . . . 6.19 D D D P . N M T D 0.136 T T T 0.102 0.603 0.233 0.475 T T T T D T 2.455 22.300 0.992 N N -0.252 1.736 -0.493 1.214 0.005 0.707 0.702 0.725 0.636 . 2.770 2.770 -1.675 1.028 -0.194 0.000 0.005 0.094 610 Zinc_finger_C2H2-type . . . ZNF224 50 0 59 10 0.144927536231884 TRUE TRUE ENSG00000104884.16 . BCM GRCh38.p13 chr19 45361629 45361629 + G G A Missense_Mutation SNP ENST00000391945.10 exon12 c.C1132T p.R378C exonic ENSG00000104884.16 . nonsynonymous SNV ENSG00000104884.16:ENST00000391945.10:exon12:c.C1132T:p.R378C 19q13.32 C3L-03123 8.285e-06 0 0 0 0 1.505e-05 0 0 rs186220206 19.20 D D D D D D M T D 0.908 D D D 0.677 . 0.910 0.939 D D D D D D 4.538 32 0.999 D D 0.743 7.766 0.616 6.431 0.999 0.719 0.702 0.723 0.714 . 5.540 5.540 3.440 1.176 0.676 1.000 0.900 0.097 900 Helical_and_beta-bridge_domain . . . ERCC2 220 0 280 33 0.105431309904153 TRUE NA ENSG00000105287.12 . BCM GRCh38.p13 chr19 46674545 46674545 + G G A Missense_Mutation SNP ENST00000433867.5 exon19 c.C2615T p.A872V exonic ENSG00000105287.12 . nonsynonymous SNV ENSG00000105287.12:ENST00000433867.5:exon19:c.C2615T:p.A872V 19q13.32 C3L-03123 1.776e-05 0 0 0 0 0 0 0.0001 rs757479531 6.20 D D P B D N L T N 0.223 T T D 0.056 0.242 0.375 0.304 T T T T T D 2.468 22.300 0.997 D N -0.055 2.322 -0.002 2.352 0.022 0.672 0.702 0.702 0.711 . 4.200 4.200 1.647 1.164 0.662 0.103 0.630 0.698 929 . . . ID=COSV52188016;OCCURENCE=1(large_intestine) PRKD2 211 0 206 35 0.145228215767635 TRUE TRUE ENSG00000105523.3 . BCM GRCh38.p13 chr19 48603592 48603592 + C C T Missense_Mutation SNP ENST00000263266.3 exon4 c.G1078A p.A360T exonic ENSG00000105523.3 . nonsynonymous SNV ENSG00000105523.3:ENST00000263266.3:exon4:c.G1078A:p.A360T 19q13.33 C3L-03123 3.129e-05 0 0.0001 0 0 2.793e-05 0 0 rs747933011 0.20 T T B B N N N T N 0.067 T T T 0.032 0.187 0.040 0.233 T T T T T T 0.398 5.401 0.955 N N -1.220 0.213 -1.220 0.267 0.001 0.581 0.547 0.576 0.563 . 4.450 -0.222 -0.435 0.130 0.589 0.000 0.001 0.014 884 . . . . FAM83E 144 0 201 15 0.0694444444444444 TRUE NA ENSG00000174951.11 . BCM GRCh38.p13 chr19 48750470 48750470 + T T C Missense_Mutation SNP ENST00000310160.7 exon4 c.A812G p.N271S exonic ENSG00000174951.11 . nonsynonymous SNV ENSG00000174951.11:ENST00000310160.7:exon4:c.A812G:p.N271S 19q13.33 C3L-03123 . . . . . . . . . 15.20 T T D D D D M D D 0.565 D D D 0.540 0.750 0.988 1.142 T T D D D T 2.769 23.000 0.984 D D 0.316 3.863 0.156 2.976 1.000 0.707 0.610 0.725 0.636 . 4.460 4.460 4.851 1.138 0.665 1.000 0.239 0.044 867 . . . . FUT1 706 0 741 118 0.137369033760186 TRUE TRUE ENSG00000104804.8 . BCM GRCh38.p13 chr19 48888023 48888023 + C C T Missense_Mutation SNP ENST00000221399.8 exon8 c.G875A p.R292H exonic ENSG00000104804.8 . nonsynonymous SNV ENSG00000104804.8:ENST00000221399.8:exon8:c.G875A:p.R292H 19q13.33 C3L-03123 8.261e-06 0 8.646e-05 0 0 0 0 0 rs768050219 19.20 D D D D D D H D D 0.739 D D D 0.757 0.948 0.885 0.641 T D D D D D 3.198 23.900 0.999 D D 0.458 4.726 0.230 3.332 0.906 0.653 0.588 0.676 0.613 . 4.630 3.590 6.015 0.975 0.594 1.000 0.004 0.001 720 Tubby,_C-terminal . . . TULP2 290 0 390 55 0.123595505617978 TRUE NA ENSG00000142530.11 . BCM GRCh38.p13 chr19 50467728 50467728 + C C T Missense_Mutation SNP ENST00000600100.6 exon4 c.G641A p.R214Q exonic ENSG00000142530.11 . nonsynonymous SNV ENSG00000142530.11:ENST00000600100.6:exon4:c.G641A:p.R214Q 19q13.33 C3L-03123 . . . . . . . . rs919256556 0.17 . T B B N N L . . 0.185 T T T 0.025 0.400 0.067 0.209 T T T T T T 0.771 9.108 0.796 N N -0.997 0.407 -0.949 0.554 0.436 0.706 0.574 0.710 0.568 . 4.000 2.960 -0.064 0.071 -0.193 0.014 0.091 0.013 809 Domain_of_unknown_function_DUF3699 . . . FAM71E1 762 1 814 113 0.121898597626753 TRUE NA ENSG00000167754.13 . BCM GRCh38.p13 chr19 50949910 50949910 + C C T Missense_Mutation SNP ENST00000336334.8 exon3 c.G280A p.G94R exonic ENSG00000167754.13 . nonsynonymous SNV ENSG00000167754.13:ENST00000336334.8:exon3:c.G280A:p.G94R 19q13.41 C3L-03123 3.365e-05 0.0002 0 0 0 1.536e-05 0 6.081e-05 rs780972904 18.20 D D D D U D H D D 0.898 D D D 0.839 . 0.991 0.545 T D D D D D 4.077 27.600 0.999 D D 0.803 8.848 0.620 6.480 1.000 0.534 0.574 0.686 0.613 . 4.430 4.430 4.788 1.026 0.599 0.998 0.771 0.845 923 Serine_proteases,_trypsin_domain . . ID=COSV60451823;OCCURENCE=1(large_intestine) KLK5 513 0 531 63 0.106060606060606 TRUE TRUE ENSG00000169035.12 . BCM GRCh38.p13 chr19 50977645 50977645 + A A G Missense_Mutation SNP ENST00000595820.6 exon6 c.T653C p.L218P exonic ENSG00000169035.12 . nonsynonymous SNV ENSG00000169035.12:ENST00000595820.6:exon6:c.T653C:p.L218P 19q13.41 C3L-03123 . . . . . . . . . 18.20 D D D D U D M D D 0.739 D D D 0.774 0.869 0.973 0.285 T D D D D D 3.968 26.800 0.999 D D 0.526 5.244 0.452 4.747 0.991 0.554 0.588 0.602 0.613 . 4.900 4.900 7.737 1.311 0.686 0.822 0.992 0.898 912 Serine_proteases,_trypsin_domain . . . KLK7 349 0 432 48 0.1 TRUE NA ENSG00000179922.6 . BCM GRCh38.p13 chr19 55622151 55622151 + G G A Missense_Mutation SNP ENST00000325351.5 exon2 c.C572T p.A191V exonic ENSG00000179922.6 . nonsynonymous SNV ENSG00000179922.6:ENST00000325351.5:exon2:c.C572T:p.A191V 19q13.42 C3L-03123 . . . . . . . . . 1.20 T T B B N N N T N 0.105 T T T 0.041 0.308 0.076 0.767 D T T T T T 1.364 14.840 0.997 N N -0.917 0.499 -0.929 0.581 0.809 0.635 0.644 0.696 0.605 . 3.300 1.150 2.046 0.191 0.588 0.315 0.007 0.061 911 . . . . ZNF784 247 0 303 48 0.136752136752137 TRUE NA ENSG00000176293.19 . BCM GRCh38.p13 chr19 58067142 58067142 + G G A Missense_Mutation SNP ENST00000313434.9 exon5 c.G658A p.G220R exonic ENSG00000176293.19 . nonsynonymous SNV ENSG00000176293.19:ENST00000313434.9:exon5:c.G658A:p.G220R 19q13.43 C3L-03123 . . . . . . . . rs374589646 3.18 D D P B . N . T D 0.169 T T T 0.098 . 0.126 0.127 T T T T T T 2.204 20.900 0.828 N N -0.763 0.710 -0.879 0.649 0.000 0.563 0.574 0.609 0.568 . 3.510 2.460 0.458 0.177 -0.188 0.000 0.993 0.981 970 Zinc_finger_C2H2-type . . ID=COSV57880516;OCCURENCE=1(large_intestine),1(skin) ZNF135 476 0 516 79 0.132773109243697 NA TRUE ENSG00000083845.9 . BCM GRCh38.p13 chr19 58394540 58394540 + G G A Missense_Mutation SNP ENST00000196551.8 exon5 c.G491A p.R164Q exonic ENSG00000083845.9 . nonsynonymous SNV ENSG00000083845.9:ENST00000196551.8:exon5:c.G491A:p.R164Q 19q13.43 C3L-03123 4.127e-05 0 0 0 0 7.512e-05 0 0 rs564673381 14.19 D D D B N D H . D 0.665 D T D 0.755 0.616 0.611 1.435 D D T D D T 4.002 27.000 0.989 D D 0.811 8.991 0.744 8.673 1.000 0.672 0.698 0.702 0.711 . 4.870 4.870 8.172 1.079 0.672 1.000 0.998 0.992 952 Ribosomal_protein_S7_domain . . . RPS5 439 0 498 48 0.0879120879120879 TRUE NA ENSG00000171574.18 . BCM GRCh38.p13 chr19 58417773 58417773 + G G A Missense_Mutation SNP ENST00000306910.9 exon4 c.G1255A p.V419I exonic ENSG00000171574.18 . nonsynonymous SNV ENSG00000171574.18:ENST00000306910.9:exon4:c.G1255A:p.V419I 19q13.43 C3L-03123 4.341e-05 0.0002 0 0 0 4.634e-05 0 0 rs756765928 1.18 T D B B . N N T N 0.041 T T T 0.045 . 0.126 0.147 T T T T T T -1.189 0.002 0.608 N . -1.859 0.018 -1.969 0.016 0.999 0.615 0.654 0.659 0.636 . 4.110 -8.230 -1.844 -3.315 -1.710 0.000 0.000 0.001 929 . . . . ZNF584 80 0 114 17 0.129770992366412 TRUE NA ENSG00000088826.18 . BCM GRCh38.p13 chr20 4183629 4183629 + C C T Missense_Mutation SNP ENST00000305958.9 exon6 c.C1505T p.P502L exonic ENSG00000088826.18 . nonsynonymous SNV ENSG00000088826.18:ENST00000305958.9:exon6:c.C1505T:p.P502L 20p13 C3L-03123 . . . . . . . . . 17.20 D D D P D D L D D 0.837 D D D 0.344 0.562 0.922 1.457 T D D D D D 2.916 23.200 0.998 D D 0.239 3.482 0.354 4.047 1.000 0.732 0.590 0.710 0.728 . 5.220 5.220 7.874 1.015 0.588 1.000 0.617 0.518 952 Amine_oxidase . . . SMOX 108 0 105 14 0.117647058823529 TRUE NA ENSG00000125848.10 . BCM GRCh38.p13 chr20 14325559 14325559 + A A G Nonstop_Mutation SNP ENST00000341420.5 exon3 c.T1948C p.X650R exonic ENSG00000125848.10 . stoploss ENSG00000125848.10:ENST00000341420.5:exon3:c.T1948C:p.X650R 20p12.1 C3L-03123 . . . . . . . . . 2.4 . . . . . D . . . 0.301 . . . . . . . . . T T . . 1.904 18.520 0.907 D . 1.237 27.622 1.115 28.891 1.000 0.075 0.063 0.060 0.102 0.969 6.160 6.160 9.325 1.312 0.756 1.000 1.000 1.000 513 . . . . FLRT3 89 0 95 13 0.12037037037037 TRUE TRUE ENSG00000171456.20 . BCM GRCh38.p13 chr20 32436109 32436109 + T T C Missense_Mutation SNP ENST00000375687.10 exon13 c.T3397C p.S1133P exonic ENSG00000171456.20 . nonsynonymous SNV ENSG00000171456.20:ENST00000375687.10:exon13:c.T3397C:p.S1133P 20q11.21 C3L-03123 . . . . . . . . . 0.20 T T B B N N L T N 0.114 T T T 0.012 0.109 0.130 0.070 T T T T T T 0.245 3.645 0.500 N N -1.684 0.039 -1.729 0.045 1.000 0.707 0.702 0.725 0.711 . 4.560 -3.450 -0.308 -0.141 -0.688 0.000 0.002 0.004 516 . . . . ASXL1 256 0 281 40 0.124610591900312 TRUE TRUE ENSG00000125965.9 . BCM GRCh38.p13 chr20 35434336 35434336 + G G A Missense_Mutation SNP ENST00000374369.8 exon2 c.C1079T p.A360V exonic ENSG00000125965.9;ENSG00000204183.2 . nonsynonymous SNV ENSG00000125965.9:ENST00000374369.8:exon2:c.C1079T:p.A360V,ENSG00000204183.2:ENST00000650879.1:exon2:c.G178A:p.A60T 20q11.22 C3L-03123 . . . . . . . . . 9.19 T T P P D D . T N 0.494 T T D 0.438 0.369 0.607 0.807 D T D T D D 3.390 24.400 0.999 D D 0.319 3.879 0.346 3.998 1.000 0.581 0.574 0.576 0.613 . 4.290 4.290 5.305 1.172 0.614 1.000 1.000 0.995 378 . . . . GDF5 751 0 797 83 0.0943181818181818 TRUE TRUE ENSG00000198959.12 . BCM GRCh38.p13 chr20 38156026 38156026 + T T G Missense_Mutation SNP ENST00000361475.7 exon3 c.A254C p.E85A exonic ENSG00000198959.12 . nonsynonymous SNV ENSG00000198959.12:ENST00000361475.7:exon3:c.A254C:p.E85A 20q11.23 C3L-03123 . . . . . . . . . 4.20 T T B B N D L D N 0.223 T T D 0.157 0.371 0.443 0.246 T T T T T T 1.335 14.640 0.391 D N -1.094 0.312 -1.137 0.339 1.000 0.722 0.634 0.618 0.735 . 5.300 -0.056 1.083 0.179 -0.133 0.010 0.006 0.002 882 Transglutaminase,_N-terminal . . . TGM2 455 1 507 63 0.110526315789474 TRUE TRUE ENSG00000124159.15 . BCM GRCh38.p13 chr20 45304603 45304603 + C C T Missense_Mutation SNP ENST00000372754.5 exon2 c.G268A p.A90T exonic ENSG00000124159.15 . nonsynonymous SNV ENSG00000124159.15:ENST00000372754.5:exon2:c.G268A:p.A90T 20q13.12 C3L-03123 . . . . . . . . . 3.20 T T B B D D N T N 0.078 T T T 0.149 0.283 0.678 0.428 T T T T T T 1.955 18.910 0.914 D N -0.883 0.542 -0.733 0.853 0.002 0.598 0.588 0.576 0.639 . 4.640 2.630 2.634 0.947 0.599 0.992 0.276 0.450 872 von_Willebrand_factor,_type_A . . ID=COSV59212550;OCCURENCE=1(large_intestine) MATN4 105 0 131 17 0.114864864864865 TRUE TRUE ENSG00000124140.14 . BCM GRCh38.p13 chr20 46053677 46053677 + C C T Missense_Mutation SNP ENST00000454036.6 exon20 c.C2716T p.R906C exonic ENSG00000124140.14 . nonsynonymous SNV ENSG00000124140.14:ENST00000454036.6:exon20:c.C2716T:p.R906C 20q13.12 C3L-03123 . . . . . . . . . 20.20 D D D D D D M D D 0.862 D D D 0.883 . 0.920 1.637 D D D D D D 4.185 28.500 0.999 D D 0.700 7.122 0.605 6.288 0.991 0.516 0.547 0.577 0.542 . 4.250 4.250 4.715 1.026 0.549 1.000 0.982 0.869 867 SLC12A_transporter,_C-terminal . . ID=COSV54788554;OCCURENCE=1(large_intestine) SLC12A5 126 0 190 12 0.0594059405940594 TRUE TRUE ENSG00000149635.3 . BCM GRCh38.p13 chr20 46541687 46541687 + C C T Missense_Mutation SNP ENST00000279028.3 exon3 c.G1288A p.A430T exonic ENSG00000149635.3 . nonsynonymous SNV ENSG00000149635.3:ENST00000279028.3:exon3:c.G1288A:p.A430T 20q13.12 C3L-03123 . . . . . . . . . 9.20 D D D D N D M T N 0.603 T T D 0.192 0.773 0.177 . T T T T D T 3.757 25.600 0.999 D N 0.487 4.933 0.495 5.114 0.996 0.520 0.627 0.441 0.542 . 5.060 5.060 2.220 1.026 0.599 0.996 0.969 0.882 958 Dendritic_cell-specific_transmembrane_protein-like . . . OCSTAMP 426 0 482 70 0.126811594202899 TRUE TRUE ENSG00000124098.10 . BCM GRCh38.p13 chr20 56365195 56365195 + G G A Missense_Mutation SNP ENST00000371384.4 exon2 c.G295A p.V99I exonic ENSG00000124098.10 . nonsynonymous SNV ENSG00000124098.10:ENST00000371384.4:exon2:c.G295A:p.V99I 20q13.2 C3L-03123 . . . . . . . . . 4.20 T T B B N D L T N 0.230 T T T 0.137 0.612 0.173 0.840 T T T T D T 2.089 19.930 0.994 D D -0.026 2.419 -0.057 2.176 1.000 0.706 0.634 0.710 0.714 . 5.360 4.410 6.639 1.176 0.613 1.000 0.064 0.591 988 Domain_of_unknown_function_DUF1279 . . . FAM210B 216 0 225 29 0.114173228346457 TRUE TRUE ENSG00000054796.13 . BCM GRCh38.p13 chr20 57329895 57329895 + G G A Missense_Mutation SNP ENST00000371263.8 exon1 c.G28A p.A10T exonic ENSG00000054796.13 . nonsynonymous SNV ENSG00000054796.13:ENST00000371263.8:exon1:c.G28A:p.A10T 20q13.31 C3L-03123 . . . . . . . . . 7.20 D T D D D N L T N 0.551 T T D 0.287 0.580 0.849 0.344 T T T T D T 3.781 25.700 0.999 D N 0.392 4.295 0.385 4.255 1.000 0.526 0.616 0.596 0.542 . 4.340 4.340 2.840 1.176 0.618 1.000 0.994 0.995 865 Meiosis-specific_protein_Spo11 . . . SPO11 172 0 207 14 0.0633484162895928 TRUE TRUE ENSG00000087460.25 . BCM GRCh38.p13 chr20 58854241 58854241 + G G A Missense_Mutation SNP ENST00000371100.8 exon1 c.G976A p.D326N exonic ENSG00000087460.25 . nonsynonymous SNV ENSG00000087460.25:ENST00000371100.8:exon1:c.G976A:p.D326N 20q13.32 C3L-03123 . . . . . . . . . 8.19 D D D P N D L D N 0.526 T T . 0.325 0.130 0.834 0.397 T T T T D T 4.134 28.000 0.995 D D 0.117 2.952 0.165 3.016 1.000 0.685 0.563 0.674 0.639 . 3.760 3.760 3.208 1.176 0.676 1.000 1.000 0.908 957 . . . . GNAS 168 0 205 31 0.13135593220339 TRUE TRUE ENSG00000101191.17 . BCM GRCh38.p13 chr20 62895056 62895056 + G G A Missense_Mutation SNP ENST00000395343.6 exon9 c.C2324T p.A775V exonic ENSG00000101191.17 . nonsynonymous SNV ENSG00000101191.17:ENST00000395343.6:exon9:c.C2324T:p.A775V 20q13.33 C3L-03123 1.649e-05 0 0 0 0 1.499e-05 0 6.058e-05 rs566821138 1.20 D T P B N N L T N 0.162 T T T 0.052 0.479 0.277 0.602 T T T T T T 1.467 15.520 0.994 N N -0.569 1.045 -0.617 1.021 0.999 0.672 0.709 0.702 0.711 . 5.520 3.520 0.496 1.176 0.676 0.000 0.001 0.004 798 Transcription_elongation_factor_S-II,_central_domain . . . DIDO1 75 0 115 12 0.094488188976378 TRUE NA ENSG00000130589.16 . BCM GRCh38.p13 chr20 63564552 63564552 + G G A Missense_Mutation SNP ENST00000467148.1 exon8 c.C4270T p.R1424C exonic ENSG00000130589.16 . nonsynonymous SNV ENSG00000130589.16:ENST00000467148.1:exon8:c.C4270T:p.R1424C 20q13.33 C3L-03123 0.0002 0.0005 0 0 0 0.0003 0 0 rs369824033 13.20 D D D D D D M T D 0.487 T T D 0.590 . 0.508 0.369 T T T D D D 3.723 25.500 0.999 D N 0.503 5.056 0.364 4.116 0.897 0.651 0.644 0.645 0.684 . 4.660 3.690 2.903 1.083 0.618 1.000 0.277 0.184 . Ribonuclease_II/R . . ID=COSV71296095;OCCURENCE=1(large_intestine) HELZ2 377 0 419 54 0.114164904862579 TRUE TRUE ENSG00000196700.9 . BCM GRCh38.p13 chr20 63962738 63962738 + G G A Missense_Mutation SNP ENST00000369888.6 exon13 c.C2012T p.P671L exonic ENSG00000196700.9 . nonsynonymous SNV ENSG00000196700.9:ENST00000369888.6:exon13:c.C2012T:p.P671L 20q13.33 C3L-03123 1.333e-05 0 0 0 0 2.322e-05 0 0 rs375420745 0.20 T T B B N N N T N 0.028 T T T 0.010 . 0.043 . T T T T T T 1.140 13.140 0.811 N N -0.934 0.479 -0.796 0.764 0.118 0.672 0.702 0.702 0.636 . 5.220 1.220 0.946 0.297 -0.076 0.000 0.346 0.362 . . . . ID=COSV53866905;OCCURENCE=1(large_intestine) ZNF512B 236 0 317 48 0.131506849315068 TRUE TRUE ENSG00000154736.6 . BCM GRCh38.p13 chr21 26965809 26965809 + G G A Missense_Mutation SNP ENST00000284987.6 exon1 c.C583T p.R195C exonic ENSG00000154736.6 . nonsynonymous SNV ENSG00000154736.6:ENST00000284987.6:exon1:c.C583T:p.R195C 21q21.3 C3L-03123 . . . . . . . . . 14.20 D D D P D D L T D 0.654 T T D 0.387 0.496 0.822 1.482 D D D T D D 4.635 32 0.999 D D 0.348 4.039 0.384 4.250 1.000 0.598 0.574 0.607 0.639 . 4.380 3.420 2.822 1.168 0.672 1.000 1.000 0.999 735 . . . . ADAMTS5 206 0 214 35 0.140562248995984 TRUE TRUE ENSG00000159128.14 . BCM GRCh38.p13 chr21 33421613 33421613 + C C T Missense_Mutation SNP ENST00000290219.10 exon3 c.C340T p.R114C exonic ENSG00000159128.14 . nonsynonymous SNV ENSG00000159128.14:ENST00000290219.10:exon3:c.C340T:p.R114C 21q22.11 C3L-03123 . . . . . . . . . 16.20 D D D D D N M D D 0.873 D D D 0.603 . 1.000 1.445 T D D D D D 3.565 24.900 0.997 N N -0.054 2.323 -0.295 1.575 1.000 0.707 0.702 0.658 0.714 . 4.530 3.640 1.819 0.084 -0.242 0.099 0.002 0.100 946 Fibronectin_type_III . . . IFNGR2 627 0 696 118 0.144963144963145 TRUE NA ENSG00000182240.16 . BCM GRCh38.p13 chr21 41226321 41226321 + A A G Missense_Mutation SNP ENST00000330333.11 exon2 c.A368G p.H123R exonic ENSG00000182240.16 . nonsynonymous SNV ENSG00000182240.16:ENST00000330333.11:exon2:c.A368G:p.H123R 21q22.3 C3L-03123 . . . . . . . . . 5.20 D T P B D N M T D 0.638 T T T 0.197 0.579 0.597 1.002 T T T T D T 1.990 19.180 0.916 N N -0.135 2.067 -0.253 1.665 1.000 0.706 0.590 0.710 0.714 . 4.740 4.740 3.816 1.298 0.740 0.454 0.127 0.068 969 Peptidase_family_A1_domain;Memapsin-like . . . BACE2 339 0 343 37 0.0973684210526316 TRUE TRUE ENSG00000142182.9 . BCM GRCh38.p13 chr21 44256100 44256100 + G G A Missense_Mutation SNP ENST00000628202.3 exon7 c.C571T p.R191W exonic ENSG00000142182.9 . nonsynonymous SNV ENSG00000142182.9:ENST00000628202.3:exon7:c.C571T:p.R191W 21q22.3 C3L-03123 . . . . . . . . rs943771422 13.20 D D D D N N M T D 0.866 T D D 0.499 0.748 0.854 0.637 T D D D D D 2.803 23.000 0.997 N N -0.031 2.404 -0.297 1.571 0.999 0.497 0.590 0.547 0.563 . 3.440 2.530 0.550 1.075 0.676 0.157 0.038 0.019 934 . . . ID=COSV99533392;OCCURENCE=1(endometrium) DNMT3L 269 0 291 38 0.115501519756839 TRUE NA ENSG00000099991.18 . BCM GRCh38.p13 chr22 24055016 24055016 + C C T Missense_Mutation SNP ENST00000263119.10 exon9 c.C950T p.T317M exonic ENSG00000099991.18 . nonsynonymous SNV ENSG00000099991.18:ENST00000263119.10:exon9:c.C950T:p.T317M 22q11.23 C3L-03123 . . . . . . . . rs1056788500 4.20 D D B B N N L T N 0.254 T T D 0.049 0.203 0.632 0.291 T T T T T T 0.681 8.279 0.980 D N -0.642 0.912 -0.629 1.003 0.992 0.732 0.725 0.744 0.714 . 5.350 4.330 2.594 1.001 0.597 0.061 0.008 0.039 923 . . . ID=COSV54088980;OCCURENCE=1(large_intestine) CABIN1 739 0 838 85 0.0920910075839653 TRUE TRUE ENSG00000099991.18 . BCM GRCh38.p13 chr22 24165607 24165607 + C C T Missense_Mutation SNP ENST00000263119.10 exon31 c.C4988T p.T1663M exonic ENSG00000099991.18 . nonsynonymous SNV ENSG00000099991.18:ENST00000263119.10:exon31:c.C4988T:p.T1663M 22q11.23 C3L-03123 3.608e-05 0.0001 0 0.0002 0 1.617e-05 0 0 rs552263560 8.20 D D D D D D L T N 0.552 T T T 0.139 . 0.615 2.167 T T T T T D 3.867 26.200 0.999 D N 0.468 4.796 0.444 4.687 1.000 0.719 0.702 0.723 0.734 . 4.330 4.330 2.939 1.008 0.597 0.991 0.990 0.897 732 . . . . CABIN1 470 0 522 69 0.116751269035533 TRUE NA ENSG00000128294.16 . BCM GRCh38.p13 chr22 26541048 26541048 + G G A Missense_Mutation SNP ENST00000338754.9 exon3 c.C583T p.R195C exonic ENSG00000128294.16 . nonsynonymous SNV ENSG00000128294.16:ENST00000338754.9:exon3:c.C583T:p.R195C 22q12.1 C3L-03123 8.269e-06 0 0 0 0 1.504e-05 0 0 rs749743940 15.20 D T D P D D M T D 0.951 T T D 0.510 0.683 0.740 1.701 D D D D D D 4.289 29.500 0.999 D D 0.339 3.985 0.267 3.532 1.000 0.707 0.725 0.698 0.714 . 5.010 4.000 2.764 1.176 0.676 0.999 1.000 0.989 975 . . . . TPST2 137 1 172 20 0.104166666666667 TRUE NA ENSG00000100154.14 . BCM GRCh38.p13 chr22 28014355 28014355 + C C T Missense_Mutation SNP ENST00000397906.6 exon14 c.G4111A p.V1371M exonic ENSG00000100154.14 . nonsynonymous SNV ENSG00000100154.14:ENST00000397906.6:exon14:c.G4111A:p.V1371M 22q12.1 C3L-03123 . . . . . . . . . 3.20 T T B B N N N D N 0.181 T T D 0.246 0.227 0.184 . T T T T T D 0.195 3.064 0.604 N N -1.581 0.059 -1.627 0.068 0.998 0.707 0.670 0.717 0.714 . 4.750 -5.730 -0.333 -1.177 -0.780 0.003 0.002 0.026 952 . . . . TTC28 219 0 252 26 0.0935251798561151 TRUE NA ENSG00000100150.20 . BCM GRCh38.p13 chr22 31804188 31804188 + G G T Nonsense_Mutation SNP ENST00000646701.1 exon14 c.G1024T p.G342X exonic ENSG00000100150.20;ENSG00000285404.1 . stopgain ENSG00000285404.1:ENST00000646701.1:exon14:c.G1024T:p.G342X,ENSG00000100150.20:ENST00000651528.2:exon16:c.G1108T:p.G370X 22q12.3 C3L-03123 . . . . . . . . . 5.6 . . . . D A . . . 0.963 . . . . . . . . . D D . . 7.945 40 0.993 D N 1.171 21.422 1.018 20.015 1.000 0.707 0.725 0.651 0.636 . 5.250 5.250 8.785 1.158 0.671 1.000 1.000 0.990 196 . . . . DEPDC5 346 0 361 34 0.0860759493670886 TRUE TRUE ENSG00000100346.18 . BCM GRCh38.p13 chr22 39678009 39678009 + C C A Nonsense_Mutation SNP ENST00000402142.4 exon31 c.C4956A p.C1652X exonic ENSG00000100346.18 . stopgain ENSG00000100346.18:ENST00000402142.4:exon31:c.C4956A:p.C1652X 22q13.1 C3L-03123 . . . . . . . . rs758332678 4.6 . . . . D A . . . 0.911 . . . . . . . . . D D . . 4.398 31 0.985 N N -0.221 1.818 -0.531 1.152 0.325 0.646 0.590 0.645 0.563 . 4.250 -3.500 -1.229 -2.002 -1.613 0.003 0.203 0.393 829 Ion_transport_domain . . . CACNA1I 192 0 234 35 0.130111524163569 TRUE TRUE ENSG00000100403.12 . BCM GRCh38.p13 chr22 41332210 41332210 + G G A Missense_Mutation SNP ENST00000352645.5 exon7 c.G565A p.A189T exonic ENSG00000100403.12 . nonsynonymous SNV ENSG00000100403.12:ENST00000352645.5:exon7:c.G565A:p.A189T 22q13.2 C3L-03123 . . . . . . . . . 0.20 T T B B N N N T N 0.103 T T T 0.065 0.229 0.082 0.680 T T T T T T 0.957 11.080 0.882 N N -0.948 0.462 -0.932 0.577 0.043 0.707 0.702 0.723 0.714 . 4.940 1.250 0.517 1.175 0.674 0.103 0.798 0.663 183 . . . . ZC3H7B 306 0 303 37 0.108823529411765 TRUE TRUE ENSG00000075240.17 . BCM GRCh38.p13 chr22 46672896 46672896 + C C T Missense_Mutation SNP ENST00000406902.6 exon14 c.C1138T p.P380S exonic ENSG00000075240.17 . nonsynonymous SNV ENSG00000075240.17:ENST00000406902.6:exon14:c.C1138T:p.P380S 22q13.31 C3L-03123 . . . . . . . . rs1011786250 12.20 D D P P D D M T D 0.850 T T D 0.207 0.449 0.174 1.523 T D T T D D 3.419 24.500 0.999 D D 0.460 4.742 0.472 4.913 1.000 0.732 0.744 0.723 0.700 . 4.630 4.630 5.367 1.022 0.596 1.000 0.968 0.809 637 . . . . GRAMD4 265 0 345 55 0.1375 TRUE NA ENSG00000100253.13 . BCM GRCh38.p13 chr22 50489812 50489812 + C C A Missense_Mutation SNP ENST00000216075.11 exon10 c.C814A p.Q272K exonic ENSG00000100253.13 . nonsynonymous SNV ENSG00000100253.13:ENST00000216075.11:exon10:c.C814A:p.Q272K 22q13.33 C3L-03123 . . . . . . . . . 8.18 T T P B D D . . D 0.540 T T D 0.180 0.671 0.122 0.259 T T T T D D 2.873 23.200 0.937 D D 0.437 4.578 0.461 4.825 0.965 0.554 0.588 0.576 0.613 . 4.690 3.640 4.568 1.022 0.596 1.000 0.998 0.986 794 . . . . MIOX 449 0 520 62 0.106529209621993 TRUE TRUE ENSG00000182378.14 . BCM GRCh38.p13 chrX 284293 284293 + C C A Missense_Mutation SNP ENST00000381657.8 exon2 c.C106A p.L36I exonic ENSG00000182378.14 . nonsynonymous SNV ENSG00000182378.14:ENST00000381657.8:exon2:c.C106A:p.L36I Xp22.33 C3L-03123 . . . . . . . . . 6.18 D T D P U N M . N 0.251 T T T 0.184 0.702 0.235 0.331 T T T T D D 1.701 17.030 0.991 D . . . . . 1.000 . . . . . 1.980 1.980 0.663 0.477 0.424 0.040 0.463 0.175 1000 Phosphatidylinositol-specific_phospholipase_C,_X_domain . . . PLCXD1 302 0 366 34 0.085 TRUE TRUE ENSG00000167393.18 . BCM GRCh38.p13 chrX 386592 386592 + C C T Missense_Mutation SNP ENST00000390665.9 exon1 c.G100A p.D34N exonic ENSG00000167393.18 . nonsynonymous SNV ENSG00000167393.18:ENST00000390665.9:exon1:c.G100A:p.D34N Xp22.33 C3L-03123 . . . . . . . . . 1.18 T T P B U N . T N 0.226 T T T 0.081 0.277 0.462 0.142 T T T T D T 2.041 19.570 0.990 N . . . . . 1.000 . . . . . 1.070 1.070 2.793 0.577 0.428 0.979 0.030 0.084 1000 . . . . PPP2R3B 307 0 424 31 0.0681318681318681 TRUE TRUE ENSG00000146938.16 . BCM GRCh38.p13 chrX 5893389 5893389 + G G A Nonsense_Mutation SNP ENST00000381095.8 exon6 c.C1879T p.R627X exonic ENSG00000146938.16 . stopgain ENSG00000146938.16:ENST00000381095.8:exon6:c.C1879T:p.R627X Xp22.32 C3L-03123 . . . . . . . . . 4.5 . . . . N D . . . 0.882 . . . . . . . . . D D . . 5.515 34 0.989 D . . . . . 0.042 . . . . . 4.000 2.100 4.309 1.006 0.676 1.000 0.013 0.005 1000 . . . ID=COSV52023286;OCCURENCE=1(endometrium) NLGN4X 843 2 829 89 0.0969498910675381 NA TRUE ENSG00000046651.15 . BCM GRCh38.p13 chrX 13760282 13760282 + A A T Missense_Mutation SNP ENST00000340096.11 exon16 c.A1822T p.I608F exonic ENSG00000046651.15 . nonsynonymous SNV ENSG00000046651.15:ENST00000340096.11:exon16:c.A1822T:p.I608F Xp22.2 C3L-03123 . . . . . . . . . 6.19 T T D P N N M D N 0.226 D D D 0.289 0.595 0.886 0.676 T T T T T T 0.637 7.864 0.795 N . . . . . 1.000 . . . . . 5.550 -3.820 -0.153 -0.037 0.756 0.000 0.002 0.081 116 . . . . OFD1 423 0 461 62 0.118546845124283 TRUE TRUE ENSG00000130150.12 . BCM GRCh38.p13 chrX 14895391 14895391 + T T A Missense_Mutation SNP ENST00000380492.8 exon4 c.T319A p.L107M exonic ENSG00000130150.12 . nonsynonymous SNV ENSG00000130150.12:ENST00000380492.8:exon4:c.T319A:p.L107M Xp22.2 C3L-03123 . . . . . . . . . 11.19 D D D D D D M T N 0.613 T T D 0.386 0.676 0.426 1.482 T T T T D D 2.912 23.200 0.997 D . . . . . 0.991 . . . . . 4.540 3.370 1.768 1.138 0.665 1.000 1.000 0.999 120 CRAL-TRIO_lipid_binding_domain . . . MOSPD2 154 0 126 26 0.171052631578947 TRUE TRUE ENSG00000214107.8 . BCM GRCh38.p13 chrX 30251470 30251470 + G G A Missense_Mutation SNP ENST00000378981.7 exon4 c.G977A p.R326H exonic ENSG00000214107.8 . nonsynonymous SNV ENSG00000214107.8:ENST00000378981.7:exon4:c.G977A:p.R326H Xp21.2 C3L-03123 . . . . . . . . . 1.19 T T D B N N L T N 0.094 T T T 0.074 0.288 0.209 0.057 T T T T T T 0.466 6.150 0.928 N . . . . . 0.808 . . . . . 3.760 -0.457 -0.452 -0.208 0.676 0.000 0.001 0.002 738 . . . ID=COSV66775656;OCCURENCE=1(large_intestine),1(skin),1(prostate) MAGEB1 245 0 261 41 0.135761589403974 TRUE TRUE ENSG00000102226.10 . BCM GRCh38.p13 chrX 47233035 47233035 + C C T Missense_Mutation SNP ENST00000218348.7 exon1 c.C121T p.R41W exonic ENSG00000102226.10 . nonsynonymous SNV ENSG00000102226.10:ENST00000218348.7:exon1:c.C121T:p.R41W Xp11.3 C3L-03123 . . . . . . . . . 2.18 D D B B . N N T N 0.182 T T T 0.054 0.519 0.222 0.910 T T T T T T 1.896 18.460 0.991 N . . . . . 1.000 . . . . . 4.450 0.156 -0.094 0.124 0.596 0.006 0.035 0.082 548 . . . ID=COSV52092520;OCCURENCE=1(endometrium) USP11 488 0 633 76 0.107193229901269 TRUE TRUE ENSG00000187690.4 . BCM GRCh38.p13 chrX 51407287 51407287 + G G A Missense_Mutation SNP ENST00000342995.4 exon1 c.G271A p.A91T exonic ENSG00000187690.4 . nonsynonymous SNV ENSG00000187690.4:ENST00000342995.4:exon1:c.G271A:p.A91T Xp11.22 C3L-03123 1.259e-05 0 0 0 0 2.29e-05 0 0 rs781827373 0.17 T T P B N N . T N 0.063 T T T 0.228 0.247 0.453 0.061 . T T T T T -1.061 0.005 0.977 N . . . . . 0.609 . . . . . 3.360 -6.710 -3.495 -0.947 -0.847 0.000 0.000 0.000 242 . . . . EZHIP 576 0 629 75 0.106534090909091 TRUE TRUE ENSG00000247746.4 . BCM GRCh38.p13 chrX 55488648 55488648 + C C T Missense_Mutation SNP ENST00000500968.3 exon2 c.G292A p.V98I exonic ENSG00000247746.4 . nonsynonymous SNV ENSG00000247746.4:ENST00000500968.3:exon2:c.G292A:p.V98I Xp11.21 C3L-03123 0.0002 0 0 0 0 0 0 0.0016 rs779961341 1.19 T T B B U N N T N 0.011 T T T 0.011 . 0.043 0.510 D T T T T T 1.666 16.800 0.964 N . . . . . 1.000 . . . . . 2.650 -0.596 0.124 0.006 0.514 0.000 0.519 0.883 280 . . . . USP51 223 0 283 28 0.090032154340836 TRUE NA ENSG00000131089.17 . BCM GRCh38.p13 chrX 63678504 63678504 + T T G Missense_Mutation SNP ENST00000253401.10 exon5 c.A630C p.K210N exonic ENSG00000131089.17 . nonsynonymous SNV ENSG00000131089.17:ENST00000253401.10:exon5:c.A630C:p.K210N Xq11.1 C3L-03123 . . . . . . . . . 6.19 T D B B D D N T N 0.393 T T T 0.087 0.452 0.690 1.157 D T T T T D 1.011 11.770 0.403 D . . . . . 0.002 . . . . . 5.080 -0.415 -0.102 -0.818 -0.883 0.720 0.991 0.984 26 Dbl_homology_(DH)_domain . . . ARHGEF9 215 0 264 31 0.105084745762712 TRUE TRUE ENSG00000120509.10 . BCM GRCh38.p13 chrX 70287336 70287336 + C C A Missense_Mutation SNP ENST00000239666.8 exon6 c.G328T p.A110S exonic ENSG00000120509.10 . nonsynonymous SNV ENSG00000120509.10:ENST00000239666.8:exon6:c.G328T:p.A110S Xq13.1 C3L-03123 . . . . . . . . . 11.19 D D P B D D M T D 0.795 T T D 0.422 0.714 0.589 1.969 T T D T D D 4.414 31 0.996 D . . . . . 1.000 . . . . . 4.880 4.880 7.157 0.998 0.531 1.000 1.000 0.997 45 PDZ_domain . . . PDZD11 313 0 395 33 0.0771028037383178 TRUE TRUE ENSG00000147206.17 . BCM GRCh38.p13 chrX 103079417 103079417 + G G A Missense_Mutation SNP ENST00000395065.8 exon15 c.C1277T p.A426V exonic ENSG00000147206.17 . nonsynonymous SNV ENSG00000147206.17:ENST00000395065.8:exon15:c.C1277T:p.A426V Xq22.1 C3L-03123 0.0021 0 0.0001 0.0002 0 4.168e-05 0.0047 0.0176 rs371513942 0.18 T T B B N N N T N 0.095 T T . 0.047 . 0.546 0.218 T T T T T T -0.889 0.015 0.556 N . . . . . 0.000 . . . . . 4.220 -1.490 0.986 -2.607 -4.041 0.992 0.000 0.000 253 Nuclear_transport_factor_2,_eukaryote;Nuclear_transport_factor_2 . . ID=COSV67702792;OCCURENCE=2(large_intestine),1(biliary_tract) NXF3 575 0 591 59 0.0907692307692308 NA TRUE ENSG00000123575.9 . BCM GRCh38.p13 chrX 104189648 104189648 + G G A Missense_Mutation SNP ENST00000493442.2 exon6 c.G1037A p.R346H exonic ENSG00000123575.9 . nonsynonymous SNV ENSG00000123575.9:ENST00000493442.2:exon6:c.G1037A:p.R346H Xq22.2 C3L-03123 1.14e-05 0 0.0001 0 0 0 0 0 rs782702516 12.19 D D D D D D L T D 0.585 T T D 0.341 0.307 0.309 2.553 D T T T D D 4.246 29.100 0.999 D . . . . . 1.000 . . . . . 5.070 5.070 9.943 1.175 0.676 1.000 1.000 1.000 471 . . . ID=COSV55433623;OCCURENCE=1(stomach),2(thyroid) FAM199X 514 2 540 52 0.0878378378378378 TRUE TRUE ENSG00000009694.13 . BCM GRCh38.p13 chrX 124520536 124520536 + C C T Nonsense_Mutation SNP ENST00000371130.7 exon18 c.G3282A p.W1094X exonic ENSG00000009694.13 . stopgain ENSG00000009694.13:ENST00000371130.7:exon18:c.G3282A:p.W1094X Xq25 C3L-03123 . . . . . . . . . 4.5 . . . . N A . . . 0.448 . . . . . . . . . D D . . 6.675 36 0.994 D . . . . . 0.293 . . . . . 5.430 3.500 0.300 1.026 0.599 0.982 1.000 0.846 962 . . . . TENM1 119 0 112 19 0.145038167938931 TRUE TRUE ENSG00000129680.16 . BCM GRCh38.p13 chrX 136251305 136251305 + C C A Missense_Mutation SNP ENST00000316077.14 exon1 c.G54T p.E18D exonic ENSG00000129680.16 . nonsynonymous SNV ENSG00000129680.16:ENST00000316077.14:exon1:c.G54T:p.E18D Xq26.3 C3L-03123 . . . . . . . . . 0.18 T T P P . N N T N 0.061 T T T 0.040 0.106 0.328 0.183 T T T T T T 0.304 4.330 0.521 N . . . . . 1.000 . . . . . 3.070 -6.140 -1.425 0.083 0.542 0.000 0.002 0.002 789 . . . . MAP7D3 233 0 354 51 0.125925925925926 TRUE TRUE ENSG00000155495.9 . BCM GRCh38.p13 chrX 141908270 141908270 + T T C Missense_Mutation SNP ENST00000285879.5 exon4 c.T2866C p.F956L exonic ENSG00000155495.9 . nonsynonymous SNV ENSG00000155495.9:ENST00000285879.5:exon4:c.T2866C:p.F956L Xq27.2 C3L-03123 . . . . . . . . . 0.18 T T B B . N L T N 0.155 T T T 0.012 0.285 0.095 . T T T T T T 0.379 5.191 0.168 N . . . . . 0.000 . . . . . 0.837 -0.771 -0.281 -0.467 -0.681 0.000 0.002 0.043 987 MAGE_homology_domain . . . MAGEC1 221 0 253 37 0.127586206896552 TRUE TRUE ENSG00000183479.12 . BCM GRCh38.p13 chrX 153444944 153444944 + G G A Missense_Mutation SNP ENST00000330912.6 exon13 c.C487T p.R163W exonic ENSG00000183479.12 . nonsynonymous SNV ENSG00000183479.12:ENST00000330912.6:exon13:c.C487T:p.R163W Xq28 C3L-03123 0.0001 0 0 0 0.0056 0 0 0 rs782383635 7.19 D D D D U N L T D 0.368 T T D 0.155 0.406 0.308 0.178 T T T T T T 3.051 23.500 0.999 D . . . . . 0.495 . . . . . 4.890 1.530 0.338 0.150 0.599 0.050 0.949 0.519 209 Exonuclease,_RNase_T/DNA_polymerase_III . . . TREX2 402 0 455 44 0.0881763527054108 TRUE NA ENSG00000089820.16 . BCM GRCh38.p13 chrX 153912708 153912708 + A A G Missense_Mutation SNP ENST00000350060.10 exon12 c.T1534C p.F512L exonic ENSG00000089820.16 . nonsynonymous SNV ENSG00000089820.16:ENST00000350060.10:exon12:c.T1534C:p.F512L Xq28 C3L-03123 . . . . . . . . . 10.19 D D D P D D N T D 0.665 T T D 0.264 0.296 0.554 0.197 T T T T D D 4.072 27.500 0.998 D . . . . . 1.000 . . . . . 5.460 5.460 8.984 1.312 0.756 1.000 1.000 0.998 180 Rho_GTPase-activating_protein_domain . . . ARHGAP4 130 0 177 29 0.140776699029126 TRUE TRUE ENSG00000142661.19 . BCM GRCh38.p13 chr1 24082716 24082716 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000142661.19 ENST00000374434.4:exon17:c.1971-2A>G . . 1p36.11 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.528 34 0.995 D . 0.994 13.731 0.821 10.760 0.988 0.054 0.060 0.060 0.059 0.981 5.410 5.410 5.954 1.138 0.665 1.000 0.998 0.967 405 . . . . MYOM3 81 0 110 13 0.105691056910569 TRUE TRUE ENSG00000117595.12 . BCM GRCh38.p13 chr1 209796554 209796554 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000117595.12 ENST00000367021.8:exon4:c.175-2A>G . . 1q32.2 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.056 35 0.996 D . 1.136 19.264 0.993 18.423 1.000 0.075 0.110 0.084 0.090 0.976 5.630 5.630 7.494 1.138 0.665 1.000 0.998 0.981 814 . . . . IRF6 362 0 418 67 0.138144329896907 TRUE TRUE ENSG00000204525.16 . BCM GRCh38.p13 chr6 31269527 31269527 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000204525.16 ENST00000376228.9:exon6:c.1016-2A>G . . 6p21.33 C3L-03123 . . . . . . . . . 1.5 . . . . . D . . . . . . . . . . . . . T T . . 3.753 25.600 0.913 N N 0.236 3.465 -0.141 1.934 1.000 0.707 0.672 0.702 0.714 . 2.310 2.310 0.971 0.984 0.597 0.146 0.310 0.040 934 . . . . HLA-C 537 0 576 56 0.0886075949367089 TRUE TRUE ENSG00000096968.14 . BCM GRCh38.p13 chr9 5126448 5126448 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000096968.14 ENST00000381652.4:exon24:c.3291+2T>C . . 9p24.1 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.918 33 0.994 D . 1.029 14.857 0.859 12.102 1.000 0.099 0.105 0.060 0.093 0.968 5.110 5.110 7.661 1.122 0.645 1.000 0.950 0.836 668 . . . . JAK2 142 0 129 25 0.162337662337662 TRUE TRUE ENSG00000106714.17 . BCM GRCh38.p13 chr9 39102495 39102495 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000106714.17 ENST00000297668.10:exon17:c.2755+2T>C . . 9p12 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.044 33 0.984 D . 0.928 11.796 0.701 7.773 0.072 0.106 0.085 0.084 0.110 0.876 2.960 2.960 8.391 1.182 0.580 1.000 0.994 0.961 988 . . . . CNTNAP3 155 0 169 9 0.050561797752809 NA TRUE ENSG00000135070.15 . BCM GRCh38.p13 chr9 86272114 86272114 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000135070.15 ENST00000375991.9:exon3:c.136-2A>G . . 9q21.33 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 6.009 35 0.995 D . 1.149 20.003 1.010 19.482 1.000 0.106 0.106 0.121 0.118 0.980 5.730 5.730 7.674 1.138 0.665 1.000 1.000 0.999 527 . . . . ISCA1 320 0 346 25 0.0673854447439353 TRUE TRUE ENSG00000148362.11 . BCM GRCh38.p13 chr9 136993666 136993666 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000148362.11 ENST00000371620.4:exon6:c.575+2T>C . . 9q34.3 C3L-03123 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . D T . . 3.569 24.900 0.992 N . 0.731 7.573 0.494 5.109 1.000 0.116 0.080 0.072 0.110 0.848 3.970 3.970 1.381 1.066 0.519 0.936 0.961 0.508 976 . . . . PAXX 366 0 452 51 0.101391650099404 TRUE TRUE ENSG00000005810.18 . BCM GRCh38.p13 chr13 77140046 77140046 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000005810.18 ENST00000544440.7:exon51:c.7518+1G>C . . 13q22.3 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 4.641 32 0.994 D . 1.216 25.235 1.083 25.213 1.000 0.295 0.304 0.084 0.110 0.992 5.910 5.910 7.568 1.026 0.599 1.000 1.000 0.964 894 . . . . MYCBP2 114 0 151 23 0.132183908045977 TRUE TRUE ENSG00000140829.12 . BCM GRCh38.p13 chr16 72099889 72099889 + T T C Splice_Site SNP NA NA NA NA splicing ENSG00000140829.12 ENST00000268482.8:exon8:c.1116+2T>C . . 16q22.2 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.656 34 0.987 D . 0.980 13.317 0.796 10.021 1.000 0.156 0.158 0.172 0.221 0.902 4.500 4.500 5.808 1.138 0.665 1.000 0.996 0.962 159 . . . . DHX38 206 0 219 27 0.109756097560976 TRUE TRUE ENSG00000067900.8 . BCM GRCh38.p13 chr18 21015429 21015429 + A A G Splice_Site SNP NA NA NA NA splicing ENSG00000067900.8 ENST00000399799.3:exon13:c.1410+2T>C . . 18q11.1 C3L-03123 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.218 33 0.994 D . 1.106 17.772 0.960 16.562 1.000 0.322 0.319 0.060 0.082 0.977 5.500 5.500 6.369 1.312 0.756 1.000 1.000 1.000 530 . . . . ROCK1 271 0 312 40 0.113636363636364 TRUE TRUE ENSG00000187583.11 . BCM GRCh38.p13 chr1 970375 970375 + A A G Silent SNP ENST00000379410.8 exon3 c.A282G p.G94G exonic ENSG00000187583.11 . synonymous SNV ENSG00000187583.11:ENST00000379410.8:exon3:c.A282G:p.G94G 1p36.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHN1 317 0 331 37 0.10054347826087 TRUE TRUE ENSG00000130762.15 . BCM GRCh38.p13 chr1 3473153 3473153 + C C T Silent SNP ENST00000378378.9 exon7 c.C1098T p.H366H exonic ENSG00000130762.15 . synonymous SNV ENSG00000130762.15:ENST00000378378.9:exon7:c.C1098T:p.H366H 1p36.32 C3L-03123 8.315e-06 0 8.667e-05 0 0 0 0 0 rs764714977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGEF16 249 0 331 36 0.0980926430517711 TRUE NA ENSG00000204859.13 . BCM GRCh38.p13 chr1 6588393 6588393 + T T C Silent SNP ENST00000377674.9 exon9 c.T1632C p.H544H exonic ENSG00000204859.13 . synonymous SNV ENSG00000204859.13:ENST00000377674.9:exon9:c.T1632C:p.H544H 1p36.31 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBTB48 107 0 122 14 0.102941176470588 TRUE TRUE ENSG00000158816.15 . BCM GRCh38.p13 chr1 20332861 20332861 + C C T Silent SNP ENST00000375079.6 exon12 c.C1668T p.P556P exonic ENSG00000158816.15 . synonymous SNV ENSG00000158816.15:ENST00000375079.6:exon12:c.C1668T:p.P556P 1p36.12 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VWA5B1 382 0 442 40 0.0829875518672199 TRUE NA ENSG00000158022.6 . BCM GRCh38.p13 chr1 26057261 26057261 + G G A Silent SNP ENST00000374272.3 exon7 c.C921T p.F307F exonic ENSG00000158022.6 . synonymous SNV ENSG00000158022.6:ENST00000374272.3:exon7:c.C921T:p.F307F 1p36.11 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRIM63 217 0 274 26 0.0866666666666667 TRUE TRUE ENSG00000117751.18 . BCM GRCh38.p13 chr1 27838788 27838788 + G G T Silent SNP ENST00000311772.10 exon3 c.G207T p.R69R exonic ENSG00000117751.18 . synonymous SNV ENSG00000117751.18:ENST00000311772.10:exon3:c.G207T:p.R69R 1p35.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R8 226 0 257 16 0.0586080586080586 TRUE NA ENSG00000204084.13 . BCM GRCh38.p13 chr1 37945827 37945827 + C C T Silent SNP ENST00000373023.6 exon3 c.G81A p.E27E exonic ENSG00000204084.13 . synonymous SNV ENSG00000204084.13:ENST00000373023.6:exon3:c.G81A:p.E27E 1p34.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INPP5B 184 0 281 21 0.0695364238410596 TRUE TRUE ENSG00000127603.29 . BCM GRCh38.p13 chr1 39336239 39336239 + T T C Silent SNP ENST00000372915.7 exon36 c.T9666C p.S3222S exonic ENSG00000127603.29 . synonymous SNV ENSG00000127603.29:ENST00000372915.7:exon36:c.T9666C:p.S3222S 1p34.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MACF1 146 0 145 22 0.131736526946108 TRUE NA ENSG00000117385.16 . BCM GRCh38.p13 chr1 42750235 42750235 + C C T Silent SNP ENST00000296388.10 exon11 c.G1671A p.T557T exonic ENSG00000117385.16 . synonymous SNV ENSG00000117385.16:ENST00000296388.10:exon11:c.G1671A:p.T557T 1p34.2 C3L-03123 1.757e-05 0 0 0 0 1.58e-05 0 6.552e-05 rs772912578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52531745;OCCURENCE=1(stomach) P3H1 361 0 366 42 0.102941176470588 TRUE TRUE ENSG00000081985.12 . BCM GRCh38.p13 chr1 67367913 67367913 + T T C Silent SNP ENST00000262345.5 exon10 c.T1347C p.S449S exonic ENSG00000081985.12 . synonymous SNV ENSG00000081985.12:ENST00000262345.5:exon10:c.T1347C:p.S449S 1p31.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL12RB2 735 2 818 104 0.112798264642082 TRUE TRUE ENSG00000134186.12 . BCM GRCh38.p13 chr1 108696174 108696174 + G G A Silent SNP ENST00000370025.9 exon3 c.G477A p.A159A exonic ENSG00000134186.12 . synonymous SNV ENSG00000134186.12:ENST00000370025.9:exon3:c.G477A:p.A159A 1p13.3 C3L-03123 2.473e-05 0 0 0 0 1.499e-05 0 0.0001 rs770782317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64223659;OCCURENCE=2(large_intestine),1(endometrium) PRPF38B 153 0 183 20 0.0985221674876847 TRUE TRUE ENSG00000163554.15 . BCM GRCh38.p13 chr1 158661357 158661357 + C C A Silent SNP ENST00000643759.2 exon18 c.G2517T p.L839L exonic ENSG00000163554.15 . synonymous SNV ENSG00000163554.15:ENST00000643759.2:exon18:c.G2517T:p.L839L 1q23.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPTA1 751 1 723 83 0.102977667493797 TRUE TRUE ENSG00000116690.13 . BCM GRCh38.p13 chr1 186312866 186312866 + C C T Silent SNP ENST00000445192.7 exon12 c.C4089T p.D1363D exonic ENSG00000116690.13 . synonymous SNV ENSG00000116690.13:ENST00000445192.7:exon12:c.C4089T:p.D1363D 1q31.1 C3L-03123 0.0001 9.612e-05 0 0 0.0002 0.0002 0.0011 0.0002 rs145515394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63355709;OCCURENCE=1(stomach),1(lung) PRG4 280 0 315 39 0.110169491525424 TRUE TRUE ENSG00000081237.20 . BCM GRCh38.p13 chr1 198741964 198741964 + A A G Silent SNP ENST00000442510.8 exon24 c.A2499G p.K833K exonic ENSG00000081237.20 . synonymous SNV ENSG00000081237.20:ENST00000442510.8:exon24:c.A2499G:p.K833K 1q32.1 C3L-03123 . . . . . . . . rs975797535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PTPRC 487 0 609 64 0.0950965824665676 TRUE NA ENSG00000042781.14 . BCM GRCh38.p13 chr1 215867098 215867098 + C C T Silent SNP ENST00000307340.8 exon44 c.G8754A p.V2918V exonic ENSG00000042781.14 . synonymous SNV ENSG00000042781.14:ENST00000307340.8:exon44:c.G8754A:p.V2918V 1q41 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USH2A 335 0 381 39 0.0928571428571429 TRUE TRUE ENSG00000143772.9 . BCM GRCh38.p13 chr1 226736679 226736679 + A A G Silent SNP ENST00000429204.5 exon2 c.T780C p.G260G exonic ENSG00000143772.9 . synonymous SNV ENSG00000143772.9:ENST00000429204.5:exon2:c.T780C:p.G260G 1q42.12 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITPKB 205 0 235 16 0.0637450199203187 TRUE TRUE ENSG00000054267.22 . BCM GRCh38.p13 chr1 235255715 235255715 + A A G Silent SNP ENST00000264183.9 exon5 c.T219C p.G73G exonic ENSG00000054267.22 . synonymous SNV ENSG00000054267.22:ENST00000264183.9:exon5:c.T219C:p.G73G 1q42.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID4B 187 0 161 16 0.0903954802259887 TRUE TRUE ENSG00000115593.15 . BCM GRCh38.p13 chr2 88087937 88087937 + C C T Silent SNP ENST00000419482.7 exon3 c.C390T p.D130D exonic ENSG00000115593.15 . synonymous SNV ENSG00000115593.15:ENST00000419482.7:exon3:c.C390T:p.D130D 2p11.2 C3L-03123 2.501e-05 0 0.0002 0 0 0 0 6.153e-05 rs771497079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV70225065;OCCURENCE=1(biliary_tract),1(prostate),1(endometrium) SMYD1 200 1 202 59 0.226053639846743 TRUE TRUE ENSG00000135968.21 . BCM GRCh38.p13 chr2 108452421 108452421 + A A G Silent SNP ENST00000309863.11 exon4 c.A171G p.E57E exonic ENSG00000135968.21 . synonymous SNV ENSG00000135968.21:ENST00000309863.11:exon4:c.A171G:p.E57E 2q12.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GCC2 229 0 210 72 0.25531914893617 TRUE TRUE ENSG00000196834.12 . BCM GRCh38.p13 chr2 130508873 130508873 + T T C Silent SNP ENST00000451531.6 exon1 c.A363G p.G121G exonic ENSG00000196834.12 . synonymous SNV ENSG00000196834.12:ENST00000451531.6:exon1:c.A363G:p.G121G 2q21.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . POTEI 380 1 314 93 0.228501228501229 NA TRUE ENSG00000183091.19 . BCM GRCh38.p13 chr2 151506909 151506909 + C C T Silent SNP ENST00000172853.14 exon135 c.G18453A p.S6151S exonic ENSG00000183091.19 . synonymous SNV ENSG00000183091.19:ENST00000172853.14:exon135:c.G18453A:p.S6151S 2q23.3 C3L-03123 8.352e-06 0.0001 0 0 0 0 0 0 rs769787871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51083619;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) NEB 270 0 227 66 0.225255972696246 TRUE TRUE ENSG00000115183.15 . BCM GRCh38.p13 chr2 159179131 159179131 + C C T Silent SNP ENST00000263635.8 exon14 c.C2478T p.D826D exonic ENSG00000115183.15 . synonymous SNV ENSG00000115183.15:ENST00000263635.8:exon14:c.C2478T:p.D826D 2q24.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TANC1 133 0 159 45 0.220588235294118 TRUE NA ENSG00000155760.2 . BCM GRCh38.p13 chr2 202035367 202035367 + C C T Silent SNP ENST00000286201.2 exon1 c.C720T p.N240N exonic ENSG00000155760.2 . synonymous SNV ENSG00000155760.2:ENST00000286201.2:exon1:c.C720T:p.N240N 2q33.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53808472;OCCURENCE=1(large_intestine),1(stomach) FZD7 279 0 401 46 0.102908277404922 TRUE TRUE ENSG00000123977.10 . BCM GRCh38.p13 chr2 227893867 227893867 + G G A Silent SNP ENST00000309931.3 exon5 c.G390A p.L130L exonic ENSG00000123977.10 . synonymous SNV ENSG00000123977.10:ENST00000309931.3:exon5:c.G390A:p.L130L 2q36.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DAW1 237 0 285 29 0.0923566878980892 TRUE TRUE ENSG00000173692.13 . BCM GRCh38.p13 chr2 231072401 231072401 + A A G Silent SNP ENST00000308696.11 exon7 c.A867G p.G289G exonic ENSG00000173692.13 . synonymous SNV ENSG00000173692.13:ENST00000308696.11:exon7:c.A867G:p.G289G 2q37.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PSMD1 399 0 482 41 0.0783938814531549 TRUE TRUE ENSG00000150995.19 . BCM GRCh38.p13 chr3 4783872 4783872 + C C T Silent SNP ENST00000649015.1 exon51 c.C6567T p.D2189D exonic ENSG00000150995.19 . synonymous SNV ENSG00000150995.19:ENST00000649015.1:exon51:c.C6567T:p.D2189D 3p26.1 C3L-03123 6.392e-05 0.0003 0 0.0004 0 2.261e-05 0 0 rs578051224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56990162;OCCURENCE=1(large_intestine),1(endometrium) ITPR1 118 1 161 14 0.08 TRUE TRUE ENSG00000170876.8 . BCM GRCh38.p13 chr3 14134849 14134849 + T T C Silent SNP ENST00000306077.5 exon8 c.T663C p.R221R exonic ENSG00000170876.8 . synonymous SNV ENSG00000170876.8:ENST00000306077.5:exon8:c.T663C:p.R221R 3p25.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM43 347 0 356 47 0.116625310173697 TRUE TRUE ENSG00000164080.13 . BCM GRCh38.p13 chr3 51633729 51633729 + G G A Silent SNP ENST00000409535.6 exon7 c.G978A p.T326T exonic ENSG00000164080.13 . synonymous SNV ENSG00000164080.13:ENST00000409535.6:exon7:c.G978A:p.T326T 3p21.2 C3L-03123 6.592e-05 0.0004 0 0.0002 0 2.998e-05 0 0 rs753671462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAD54L2 220 1 237 24 0.0919540229885057 TRUE NA ENSG00000157445.15 . BCM GRCh38.p13 chr3 54569960 54569960 + C C T Silent SNP ENST00000474759.6 exon8 c.C744T p.I248I exonic ENSG00000157445.15 . synonymous SNV ENSG00000157445.15:ENST00000474759.6:exon8:c.C744T:p.I248I 3p14.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNA2D3 183 1 185 26 0.123222748815166 TRUE TRUE ENSG00000031081.11 . BCM GRCh38.p13 chr3 119413942 119413942 + G G A Silent SNP ENST00000264245.9 exon12 c.G2013A p.S671S exonic ENSG00000031081.11 . synonymous SNV ENSG00000031081.11:ENST00000264245.9:exon12:c.G2013A:p.S671S 3q13.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51789399;OCCURENCE=1(stomach),1(endometrium) ARHGAP31 412 0 450 51 0.101796407185629 TRUE TRUE ENSG00000152977.10 . BCM GRCh38.p13 chr3 147410151 147410151 + C C T Silent SNP ENST00000282928.5 exon1 c.C39T p.G13G exonic ENSG00000152977.10 . synonymous SNV ENSG00000152977.10:ENST00000282928.5:exon1:c.C39T:p.G13G 3q24 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZIC1 171 0 230 24 0.094488188976378 TRUE TRUE ENSG00000078177.14 . BCM GRCh38.p13 chr4 40102115 40102115 + T T A Silent SNP ENST00000261435.11 exon4 c.T270A p.T90T exonic ENSG00000078177.14 . synonymous SNV ENSG00000078177.14:ENST00000261435.11:exon4:c.T270A:p.T90T 4p14 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . N4BP2 89 0 96 8 0.0769230769230769 TRUE TRUE ENSG00000151834.15 . BCM GRCh38.p13 chr4 46305695 46305695 + T T C Silent SNP ENST00000510861.5 exon7 c.A576G p.S192S exonic ENSG00000151834.15 . synonymous SNV ENSG00000151834.15:ENST00000510861.5:exon7:c.A576G:p.S192S 4p12 C3L-03123 8.278e-06 0 0 0 0 1.507e-05 0 0 rs200053930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABRA2 143 0 181 18 0.0904522613065327 TRUE NA ENSG00000138801.9 . BCM GRCh38.p13 chr4 107693822 107693822 + A A G Silent SNP ENST00000265174.5 exon3 c.T360C p.F120F exonic ENSG00000138801.9 . synonymous SNV ENSG00000138801.9:ENST00000265174.5:exon3:c.T360C:p.F120F 4q25 C3L-03123 1.651e-05 0 8.741e-05 0 0 1.501e-05 0 0 rs375007289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PAPSS1 405 0 447 52 0.104208416833667 TRUE NA ENSG00000138650.9 . BCM GRCh38.p13 chr4 133150737 133150737 + C C T Silent SNP ENST00000264360.7 exon1 c.C597T p.Y199Y exonic ENSG00000138650.9 . synonymous SNV ENSG00000138650.9:ENST00000264360.7:exon1:c.C597T:p.Y199Y 4q28.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDH10 155 0 164 17 0.0939226519337017 TRUE TRUE ENSG00000121210.16 . BCM GRCh38.p13 chr4 153598704 153598704 + C C T Silent SNP ENST00000409663.7 exon21 c.C2235T p.P745P exonic ENSG00000121210.16 . synonymous SNV ENSG00000121210.16:ENST00000409663.7:exon21:c.C2235T:p.P745P 4q31.3 C3L-03123 9.082e-05 0.0004 0.0003 0 0 3.004e-05 0 0.0001 rs200199904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM131L 224 0 232 40 0.147058823529412 TRUE NA ENSG00000113504.21 . BCM GRCh38.p13 chr5 1086981 1086981 + G G A Silent SNP ENST00000264930.10 exon6 c.C597T p.G199G exonic ENSG00000113504.21 . synonymous SNV ENSG00000113504.21:ENST00000264930.10:exon6:c.C597T:p.G199G 5p15.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC12A7 376 1 433 55 0.112704918032787 TRUE TRUE ENSG00000170549.4 . BCM GRCh38.p13 chr5 3599735 3599735 + C C A Silent SNP ENST00000302006.4 exon2 c.C787A p.R263R exonic ENSG00000170549.4 . synonymous SNV ENSG00000170549.4:ENST00000302006.4:exon2:c.C787A:p.R263R 5p15.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IRX1 242 0 284 35 0.109717868338558 TRUE TRUE ENSG00000112902.12 . BCM GRCh38.p13 chr5 9062963 9062963 + G G A Silent SNP ENST00000382496.10 exon18 c.C2442T p.P814P exonic ENSG00000112902.12 . synonymous SNV ENSG00000112902.12:ENST00000382496.10:exon18:c.C2442T:p.P814P 5p15.31 C3L-03123 2.472e-05 0 8.642e-05 0.0001 0 1.499e-05 0 0 rs769162684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66803970;OCCURENCE=1(lung) SEMA5A 643 0 676 69 0.0926174496644295 TRUE TRUE ENSG00000164190.19 . BCM GRCh38.p13 chr5 37020548 37020548 + A A G Silent SNP ENST00000282516.13 exon26 c.A5100G p.S1700S exonic ENSG00000164190.19 . synonymous SNV ENSG00000164190.19:ENST00000282516.13:exon26:c.A5100G:p.S1700S 5p13.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NIPBL 426 0 452 52 0.103174603174603 TRUE NA ENSG00000095015.6 . BCM GRCh38.p13 chr5 56882809 56882809 + C C T Silent SNP ENST00000399503.4 exon14 c.C3609T p.P1203P exonic ENSG00000095015.6 . synonymous SNV ENSG00000095015.6:ENST00000399503.4:exon14:c.C3609T:p.P1203P 5q11.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K1 94 0 107 12 0.100840336134454 TRUE TRUE ENSG00000094880.11 . BCM GRCh38.p13 chr5 138213160 138213160 + A A G Silent SNP ENST00000394886.7 exon1 c.T153C p.S51S exonic ENSG00000094880.11 . synonymous SNV ENSG00000094880.11:ENST00000394886.7:exon1:c.T153C:p.S51S 5q31.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDC23 209 0 288 51 0.150442477876106 TRUE TRUE ENSG00000081842.18 . BCM GRCh38.p13 chr5 140829978 140829978 + C C T Silent SNP ENST00000529310.6 exon1 c.C1887T p.G629G exonic ENSG00000081842.18 . synonymous SNV ENSG00000081842.18:ENST00000529310.6:exon1:c.C1887T:p.G629G 5q31.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHA6 604 0 645 85 0.116438356164384 NA TRUE ENSG00000133706.19 . BCM GRCh38.p13 chr5 146133053 146133053 + A A G Silent SNP ENST00000394434.7 exon23 c.T2241C p.G747G exonic ENSG00000133706.19 . synonymous SNV ENSG00000133706.19:ENST00000394434.7:exon23:c.T2241C:p.G747G 5q32 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LARS1 265 0 283 26 0.0841423948220065 TRUE TRUE ENSG00000113649.11 . BCM GRCh38.p13 chr5 146459144 146459144 + A A C Silent SNP ENST00000296702.9 exon4 c.A699C p.A233A exonic ENSG00000113649.11 . synonymous SNV ENSG00000113649.11:ENST00000296702.9:exon4:c.A699C:p.A233A 5q32 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCERG1 1060 2 1113 130 0.104585679806919 TRUE NA ENSG00000113649.11 . BCM GRCh38.p13 chr5 146459147 146459147 + A A G Silent SNP ENST00000296702.9 exon4 c.A702G p.Q234Q exonic ENSG00000113649.11 . synonymous SNV ENSG00000113649.11:ENST00000296702.9:exon4:c.A702G:p.Q234Q 5q32 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57042834;OCCURENCE=1(liver) TCERG1 1142 8 1211 144 0.106273062730627 TRUE TRUE ENSG00000055163.20 . BCM GRCh38.p13 chr5 157324004 157324004 + A A G Silent SNP ENST00000616178.4 exon17 c.A1830G p.G610G exonic ENSG00000055163.20 . synonymous SNV ENSG00000055163.20:ENST00000616178.4:exon17:c.A1830G:p.G610G 5q33.3 C3L-03123 0.0006 0.0064 0.0005 0 0 6.898e-05 0.0026 0 rs142973944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CYFIP2 272 0 291 27 0.0849056603773585 TRUE NA ENSG00000197226.12 . BCM GRCh38.p13 chr5 179863685 179863685 + G G A Silent SNP ENST00000356834.7 exon22 c.C3516T p.D1172D exonic ENSG00000197226.12 . synonymous SNV ENSG00000197226.12:ENST00000356834.7:exon22:c.C3516T:p.D1172D 5q35.3 C3L-03123 1.654e-05 0 0 0 0 1.507e-05 0 6.057e-05 rs755536613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52971691;OCCURENCE=1(biliary_tract) TBC1D9B 379 0 463 73 0.136194029850746 TRUE TRUE ENSG00000197226.12 . BCM GRCh38.p13 chr5 179863715 179863715 + C C T Silent SNP ENST00000356834.7 exon22 c.G3486A p.T1162T exonic ENSG00000197226.12 . synonymous SNV ENSG00000197226.12:ENST00000356834.7:exon22:c.G3486A:p.T1162T 5q35.3 C3L-03123 0.0001 0 8.645e-05 0 0.0009 7.532e-05 0.0011 0 rs760539290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99481797;OCCURENCE=1(large_intestine) TBC1D9B 422 0 552 82 0.129337539432177 TRUE NA ENSG00000096696.14 . BCM GRCh38.p13 chr6 7565448 7565448 + C C T Silent SNP ENST00000379802.8 exon7 c.C867T p.C289C exonic ENSG00000096696.14 . synonymous SNV ENSG00000096696.14:ENST00000379802.8:exon7:c.C867T:p.C289C 6p24.3 C3L-03123 8.239e-06 0 0 0 0 1.499e-05 0 0 rs397516973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101131207;OCCURENCE=1(urinary_tract) DSP 530 0 581 62 0.0964230171073095 TRUE NA ENSG00000096433.11 . BCM GRCh38.p13 chr6 33677026 33677026 + C C T Silent SNP ENST00000605930.3 exon27 c.C3459T p.D1153D exonic ENSG00000096433.11 . synonymous SNV ENSG00000096433.11:ENST00000605930.3:exon27:c.C3459T:p.D1153D 6p21.31 C3L-03123 3.31e-05 0 0 0.0002 0 3.012e-05 0 0 rs377753110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65408352;OCCURENCE=1(large_intestine) ITPR3 215 0 289 30 0.0940438871473354 TRUE TRUE ENSG00000096060.14 . BCM GRCh38.p13 chr6 35637018 35637018 + G G A Silent SNP ENST00000536438.5 exon4 c.C246T p.G82G exonic ENSG00000096060.14 . synonymous SNV ENSG00000096060.14:ENST00000536438.5:exon4:c.C246T:p.G82G 6p21.31 C3L-03123 8.481e-06 0 0 0 0 1.551e-05 0 0 rs749128269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FKBP5 126 0 144 11 0.0709677419354839 TRUE NA ENSG00000124608.5 . BCM GRCh38.p13 chr6 44313318 44313318 + T T C Silent SNP ENST00000244571.5 exon1 c.A6G p.A2A exonic ENSG00000124608.5 . synonymous SNV ENSG00000124608.5:ENST00000244571.5:exon1:c.A6G:p.A2A 6p21.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AARS2 579 0 614 71 0.103649635036496 TRUE NA ENSG00000188107.15 . BCM GRCh38.p13 chr6 64230808 64230808 + G G A Silent SNP ENST00000370621.7 exon31 c.C6208T p.L2070L exonic ENSG00000188107.15 . synonymous SNV ENSG00000188107.15:ENST00000370621.7:exon31:c.C6208T:p.L2070L 6q12 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EYS 196 1 156 21 0.11864406779661 TRUE TRUE ENSG00000112379.9 . BCM GRCh38.p13 chr6 138291931 138291931 + G G A Silent SNP ENST00000251691.5 exon19 c.G3246A p.L1082L exonic ENSG00000112379.9 . synonymous SNV ENSG00000112379.9:ENST00000251691.5:exon19:c.G3246A:p.L1082L 6q23.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARFGEF3 79 0 115 8 0.0650406504065041 TRUE TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152433879 152433879 + G G A Silent SNP ENST00000367255.10 exon34 c.C4377T p.S1459S exonic ENSG00000131018.24 . synonymous SNV ENSG00000131018.24:ENST00000367255.10:exon34:c.C4377T:p.S1459S 6q25.2 C3L-03123 6.615e-05 0 0 0 0 9.02e-05 0 0.0001 rs146567226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV104543098;OCCURENCE=1(large_intestine) SYNE1 345 0 359 42 0.104738154613466 TRUE NA ENSG00000106066.15 . BCM GRCh38.p13 chr7 29064087 29064087 + A A G Silent SNP ENST00000265394.10 exon11 c.T1111C p.L371L exonic ENSG00000106066.15 . synonymous SNV ENSG00000106066.15:ENST00000265394.10:exon11:c.T1111C:p.L371L 7p14.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPVL 261 1 318 39 0.109243697478992 TRUE TRUE ENSG00000234444.10 . BCM GRCh38.p13 chr7 64336922 64336922 + C C T Silent SNP ENST00000423484.3 exon3 c.C166T p.L56L exonic ENSG00000234444.10 . synonymous SNV ENSG00000234444.10:ENST00000423484.3:exon3:c.C166T:p.L56L 7q11.21 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF736 520 1 541 71 0.116013071895425 NA TRUE ENSG00000066923.17 . BCM GRCh38.p13 chr7 100198150 100198150 + C C T Silent SNP ENST00000426455.5 exon12 c.C1228T p.L410L exonic ENSG00000066923.17 . synonymous SNV ENSG00000066923.17:ENST00000426455.5:exon12:c.C1228T:p.L410L 7q22.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STAG3 646 1 741 78 0.0952380952380952 NA TRUE ENSG00000146842.17 . BCM GRCh38.p13 chr7 130184205 130184205 + T T C Silent SNP ENST00000397622.7 exon8 c.A1002G p.S334S exonic ENSG00000146842.17 . synonymous SNV ENSG00000146842.17:ENST00000397622.7:exon8:c.A1002G:p.S334S 7q32.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM209 152 0 153 23 0.130681818181818 TRUE TRUE ENSG00000128567.17 . BCM GRCh38.p13 chr7 131510952 131510952 + C C T Silent SNP ENST00000378555.8 exon2 c.G582A p.S194S exonic ENSG00000128567.17 . synonymous SNV ENSG00000128567.17:ENST00000378555.8:exon2:c.G582A:p.S194S 7q32.3 C3L-03123 8.238e-06 9.61e-05 0 0 0 0 0 0 rs774359433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PODXL 498 0 628 81 0.114245416078984 TRUE NA ENSG00000221970.2 . BCM GRCh38.p13 chr7 144318400 144318400 + C C A Silent SNP ENST00000641044.1 exon2 c.C276A p.S92S exonic ENSG00000221970.2 . synonymous SNV ENSG00000221970.2:ENST00000641044.1:exon2:c.C276A:p.S92S 7q35 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR2A1 1367 0 1381 111 0.0743967828418231 NA TRUE ENSG00000158863.22 . BCM GRCh38.p13 chr8 22102602 22102602 + G G A Silent SNP ENST00000289921.8 exon16 c.G2067A p.Q689Q exonic ENSG00000158863.22 . synonymous SNV ENSG00000158863.22:ENST00000289921.8:exon16:c.G2067A:p.Q689Q 8p21.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM160B2 331 0 369 52 0.123515439429929 TRUE NA ENSG00000175305.17 . BCM GRCh38.p13 chr8 94892889 94892889 + A A G Silent SNP ENST00000520509.5 exon5 c.T246C p.S82S exonic ENSG00000175305.17 . synonymous SNV ENSG00000175305.17:ENST00000520509.5:exon5:c.T246C:p.S82S 8q22.1 C3L-03123 8.29e-06 9.96e-05 0 0 0 0 0 0 rs142239101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCNE2 158 0 192 20 0.0943396226415094 TRUE NA ENSG00000169946.14 . BCM GRCh38.p13 chr8 105801468 105801468 + A A G Silent SNP ENST00000407775.7 exon8 c.A1386G p.K462K exonic ENSG00000169946.14 . synonymous SNV ENSG00000169946.14:ENST00000407775.7:exon8:c.A1386G:p.K462K 8q23.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFPM2 830 0 866 111 0.113613101330604 TRUE TRUE ENSG00000178209.15 . BCM GRCh38.p13 chr8 143919441 143919441 + G G A Silent SNP ENST00000322810.8 exon32 c.C10791T p.H3597H exonic ENSG00000178209.15 . synonymous SNV ENSG00000178209.15:ENST00000322810.8:exon32:c.C10791T:p.H3597H 8q24.3 C3L-03123 7.539e-05 0.0003 0 0.0002 0 4.548e-05 0 6.089e-05 rs371407635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59691323;OCCURENCE=1(large_intestine),1(stomach) PLEC 264 0 339 38 0.10079575596817 TRUE TRUE ENSG00000205808.7 . BCM GRCh38.p13 chr9 4662474 4662474 + C C T Silent SNP ENST00000381883.5 exon1 c.C99T p.G33G exonic ENSG00000205808.7 . synonymous SNV ENSG00000205808.7:ENST00000381883.5:exon1:c.C99T:p.G33G 9p24.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLPP6 348 3 309 66 0.176 TRUE NA ENSG00000086065.14 . BCM GRCh38.p13 chr9 33266018 33266018 + T T C Silent SNP ENST00000223500.9 exon2 c.T78C p.S26S exonic ENSG00000086065.14 . synonymous SNV ENSG00000086065.14:ENST00000223500.9:exon2:c.T78C:p.S26S 9p13.3 C3L-03123 . . . . . . . . rs1023861534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHMP5 114 0 150 12 0.0740740740740741 TRUE NA ENSG00000122733.12 . BCM GRCh38.p13 chr9 34977094 34977094 + G G A Silent SNP ENST00000242315.3 exon6 c.G861A p.L287L exonic ENSG00000122733.12 . synonymous SNV ENSG00000122733.12:ENST00000242315.3:exon6:c.G861A:p.L287L 9p13.3 C3L-03123 8.603e-06 0 0 0 0 0 0.0012 0 rs764545031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHF24 120 0 153 13 0.0783132530120482 TRUE NA ENSG00000136783.10 . BCM GRCh38.p13 chr9 104753033 104753033 + A A G Silent SNP ENST00000374767.5 exon3 c.A399G p.P133P exonic ENSG00000136783.10 . synonymous SNV ENSG00000136783.10:ENST00000374767.5:exon3:c.A399G:p.P133P 9q31.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NIPSNAP3A 319 1 349 51 0.1275 TRUE TRUE ENSG00000119396.11 . BCM GRCh38.p13 chr9 121190655 121190655 + T T C Silent SNP ENST00000373840.9 exon4 c.A183G p.K61K exonic ENSG00000119396.11 . synonymous SNV ENSG00000119396.11:ENST00000373840.9:exon4:c.A183G:p.K61K 9q33.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB14 381 0 395 56 0.124168514412417 TRUE TRUE ENSG00000130635.16 . BCM GRCh38.p13 chr9 134814817 134814817 + A A C Silent SNP ENST00000371817.8 exon50 c.A3927C p.G1309G exonic ENSG00000130635.16 . synonymous SNV ENSG00000130635.16:ENST00000371817.8:exon50:c.A3927C:p.G1309G 9q34.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL5A1 241 0 339 24 0.0661157024793388 TRUE TRUE ENSG00000165731.20 . BCM GRCh38.p13 chr10 43116673 43116673 + G G A Silent SNP ENST00000355710.8 exon12 c.G2226A p.T742T exonic ENSG00000165731.20 . synonymous SNV ENSG00000165731.20:ENST00000355710.8:exon12:c.G2226A:p.T742T 10q11.21 C3L-03123 0.0002 0 0 0 0 4.495e-05 0 0.0015 rs762876946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100394888;OCCURENCE=1(upper_aerodigestive_tract) RET 341 0 407 59 0.126609442060086 TRUE NA ENSG00000172538.7 . BCM GRCh38.p13 chr10 49132330 49132330 + C C T Silent SNP ENST00000311787.6 exon2 c.G135A p.S45S exonic ENSG00000172538.7 . synonymous SNV ENSG00000172538.7:ENST00000311787.6:exon2:c.G135A:p.S45S 10q11.23 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM170B 114 0 103 12 0.104347826086957 TRUE TRUE ENSG00000138182.14 . BCM GRCh38.p13 chr10 89758729 89758729 + A A T Silent SNP ENST00000371728.7 exon27 c.A4527T p.T1509T exonic ENSG00000138182.14 . synonymous SNV ENSG00000138182.14:ENST00000371728.7:exon27:c.A4527T:p.T1509T 10q23.31 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIF20B 137 0 144 20 0.121951219512195 TRUE TRUE ENSG00000119969.15 . BCM GRCh38.p13 chr10 94574178 94574178 + A A G Silent SNP ENST00000348459.10 exon8 c.A696G p.E232E exonic ENSG00000119969.15 . synonymous SNV ENSG00000119969.15:ENST00000348459.10:exon8:c.A696G:p.E232E 10q23.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HELLS 198 0 222 17 0.0711297071129707 TRUE TRUE ENSG00000165863.17 . BCM GRCh38.p13 chr10 116665669 116665669 + G G A Silent SNP ENST00000588184.2 exon3 c.C213T p.S71S exonic ENSG00000165863.17 . synonymous SNV ENSG00000165863.17:ENST00000588184.2:exon3:c.C213T:p.S71S 10q25.3 C3L-03123 2.473e-05 0.0003 0 0 0 0 0 0 rs374577819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65024708;OCCURENCE=1(skin) C10orf82 190 0 211 31 0.128099173553719 TRUE TRUE ENSG00000198873.12 . BCM GRCh38.p13 chr10 119436788 119436788 + G G A Silent SNP ENST00000392870.3 exon9 c.G876A p.A292A exonic ENSG00000198873.12 . synonymous SNV ENSG00000198873.12:ENST00000392870.3:exon9:c.G876A:p.A292A 10q26.11 C3L-03123 6.652e-05 0 0.0004 0.0001 0 3.019e-05 0 0 rs764564796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRK5 165 0 152 27 0.150837988826816 TRUE NA ENSG00000214279.13 . BCM GRCh38.p13 chr10 133459533 133459533 + C C T Silent SNP ENST00000640237.1 exon6 c.C1332T p.D444D exonic ENSG00000214279.13 . synonymous SNV ENSG00000214279.13:ENST00000640237.1:exon6:c.C1332T:p.D444D 10q26.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCART1 99 0 121 14 0.103703703703704 TRUE NA ENSG00000206013.2 . BCM GRCh38.p13 chr11 299404 299404 + C C T Silent SNP ENST00000382614.2 exon1 c.G87A p.P29P exonic ENSG00000206013.2 . synonymous SNV ENSG00000206013.2:ENST00000382614.2:exon1:c.G87A:p.P29P 11p15.5 C3L-03123 0.0018 0 0.0012 0.0007 0 0.0009 0.0037 0.0059 rs372443030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66888507;OCCURENCE=2(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(soft_tissue) IFITM5 115 0 158 13 0.0760233918128655 TRUE NA ENSG00000110628.16 . BCM GRCh38.p13 chr11 2909250 2909250 + C C A Silent SNP ENST00000649076.2 exon4 c.C297A p.A99A exonic ENSG00000110628.16 . synonymous SNV ENSG00000110628.16:ENST00000649076.2:exon4:c.C297A:p.A99A 11p15.4 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC22A18 341 0 433 38 0.0806794055201698 TRUE TRUE ENSG00000166833.21 . BCM GRCh38.p13 chr11 19879999 19879999 + C C T Silent SNP ENST00000396087.7 exon5 c.C642T p.A214A exonic ENSG00000166833.21 . synonymous SNV ENSG00000166833.21:ENST00000396087.7:exon5:c.C642T:p.A214A 11p15.1 C3L-03123 7.583e-05 0 0 0 0 1.541e-05 0 0.0005 rs764794415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NAV2 389 0 522 33 0.0594594594594595 TRUE NA ENSG00000197901.11 . BCM GRCh38.p13 chr11 62983580 62983580 + C C T Silent SNP ENST00000377871.7 exon3 c.G585A p.S195S exonic ENSG00000197901.11 . synonymous SNV ENSG00000197901.11:ENST00000377871.7:exon3:c.G585A:p.S195S 11q12.3 C3L-03123 6.378e-05 0 0 0 0 0.0001 0 0 rs778657112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC22A6 369 0 453 29 0.0601659751037344 TRUE NA ENSG00000118369.13 . BCM GRCh38.p13 chr11 78196869 78196869 + C C T Silent SNP ENST00000529308.6 exon2 c.C624T p.A208A exonic ENSG00000118369.13 . synonymous SNV ENSG00000118369.13:ENST00000529308.6:exon2:c.C624T:p.A208A 11q14.1 C3L-03123 0 0 0 0 0 0 0 0 rs750266219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP35 150 0 138 12 0.08 TRUE NA ENSG00000149256.16 . BCM GRCh38.p13 chr11 78729611 78729611 + G G A Silent SNP ENST00000278550.12 exon22 c.C3171T p.C1057C exonic ENSG00000149256.16 . synonymous SNV ENSG00000149256.16:ENST00000278550.12:exon22:c.C3171T:p.C1057C 11q14.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TENM4 144 0 136 10 0.0684931506849315 TRUE NA ENSG00000168959.14 . BCM GRCh38.p13 chr11 88509300 88509300 + C C T Silent SNP ENST00000305447.4 exon9 c.G2931A p.T977T exonic ENSG00000168959.14 . synonymous SNV ENSG00000168959.14:ENST00000305447.4:exon9:c.G2931A:p.T977T 11q14.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GRM5 418 0 318 36 0.101694915254237 TRUE TRUE ENSG00000110400.11 . BCM GRCh38.p13 chr11 119665029 119665029 + G G A Silent SNP ENST00000264025.8 exon6 c.C1272T p.D424D exonic ENSG00000110400.11 . synonymous SNV ENSG00000110400.11:ENST00000264025.8:exon6:c.C1272T:p.D424D 11q23.3 C3L-03123 4.231e-05 0 0 0.0004 0 1.55e-05 0 6.066e-05 rs200452076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NECTIN1 420 0 476 40 0.0775193798449612 TRUE NA ENSG00000080854.15 . BCM GRCh38.p13 chr11 133919813 133919813 + C C T Silent SNP ENST00000321016.12 exon18 c.G3912A p.T1304T exonic ENSG00000080854.15 . synonymous SNV ENSG00000080854.15:ENST00000321016.12:exon18:c.G3912A:p.T1304T 11q25 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58065150;OCCURENCE=3(large_intestine),1(stomach) IGSF9B 9 0 21 3 0.125 TRUE TRUE ENSG00000080854.15 . BCM GRCh38.p13 chr11 133925919 133925919 + C C T Silent SNP ENST00000321016.12 exon14 c.G1854A p.P618P exonic ENSG00000080854.15 . synonymous SNV ENSG00000080854.15:ENST00000321016.12:exon14:c.G1854A:p.P618P 11q25 C3L-03123 . . . . . . . . rs936155611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGSF9B 524 0 526 72 0.120401337792642 TRUE NA ENSG00000118972.3 . BCM GRCh38.p13 chr12 4379541 4379541 + G G A Silent SNP ENST00000237837.2 exon1 c.C42T p.C14C exonic ENSG00000118972.3 . synonymous SNV ENSG00000118972.3:ENST00000237837.2:exon1:c.C42T:p.C14C 12p13.32 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FGF23 541 0 603 84 0.122270742358079 TRUE TRUE ENSG00000067182.8 . BCM GRCh38.p13 chr12 6329803 6329803 + G G A Silent SNP ENST00000162749.7 exon9 c.C1032T p.S344S exonic ENSG00000067182.8 . synonymous SNV ENSG00000067182.8:ENST00000162749.7:exon9:c.C1032T:p.S344S 12p13.31 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TNFRSF1A 181 0 255 17 0.0625 TRUE TRUE ENSG00000123066.8 . BCM GRCh38.p13 chr12 115975190 115975190 + A A G Silent SNP ENST00000281928.8 exon25 c.T5712C p.L1904L exonic ENSG00000123066.8 . synonymous SNV ENSG00000123066.8:ENST00000281928.8:exon25:c.T5712C:p.L1904L 12q24.21 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MED13L 674 0 612 143 0.189403973509934 TRUE TRUE ENSG00000197653.16 . BCM GRCh38.p13 chr12 123871563 123871563 + T T C Silent SNP ENST00000638045.1 exon44 c.T7392C p.T2464T exonic ENSG00000197653.16 . synonymous SNV ENSG00000197653.16:ENST00000638045.1:exon44:c.T7392C:p.T2464T 12q24.31 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH10 277 0 280 22 0.0728476821192053 TRUE TRUE ENSG00000213995.11 . BCM GRCh38.p13 chr13 110615758 110615758 + G G A Silent SNP ENST00000309957.2 exon1 c.G84A p.G28G exonic ENSG00000213995.11 . synonymous SNV ENSG00000213995.11:ENST00000309957.2:exon1:c.G84A:p.G28G 13q34 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100010719;OCCURENCE=1(endometrium) NAXD 127 0 136 22 0.139240506329114 TRUE TRUE ENSG00000153531.13 . BCM GRCh38.p13 chr13 113453402 113453402 + G G A Silent SNP ENST00000375418.7 exon1 c.C36T p.S12S exonic ENSG00000153531.13 . synonymous SNV ENSG00000153531.13:ENST00000375418.7:exon1:c.C36T:p.S12S 13q34 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADPRHL1 426 0 449 61 0.119607843137255 TRUE NA ENSG00000100813.14 . BCM GRCh38.p13 chr14 23081748 23081748 + C C T Silent SNP ENST00000262710.5 exon5 c.G699A p.Q233Q exonic ENSG00000100813.14 . synonymous SNV ENSG00000100813.14:ENST00000262710.5:exon5:c.G699A:p.Q233Q 14q11.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ACIN1 175 0 217 13 0.0565217391304348 TRUE TRUE ENSG00000092009.10 . BCM GRCh38.p13 chr14 24506262 24506262 + C C T Silent SNP ENST00000250378.7 exon4 c.G366A p.L122L exonic ENSG00000092009.10 . synonymous SNV ENSG00000092009.10:ENST00000250378.7:exon4:c.G366A:p.L122L 14q12 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CMA1 234 0 224 58 0.205673758865248 TRUE TRUE ENSG00000054654.18 . BCM GRCh38.p13 chr14 63909193 63909193 + C C A Silent SNP ENST00000344113.8 exon2 c.C45A p.S15S exonic ENSG00000054654.18 . synonymous SNV ENSG00000054654.18:ENST00000344113.8:exon2:c.C45A:p.S15S 14q23.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYNE2 227 0 217 44 0.168582375478927 TRUE TRUE ENSG00000184507.16 . BCM GRCh38.p13 chr15 34357218 34357218 + C C A Silent SNP ENST00000614490.4 exon8 c.C3126A p.A1042A exonic ENSG00000184507.16 . synonymous SNV ENSG00000184507.16:ENST00000614490.4:exon8:c.C3126A:p.A1042A 15q14 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NUTM1 375 1 405 37 0.083710407239819 TRUE TRUE ENSG00000137802.14 . BCM GRCh38.p13 chr15 41815725 41815725 + C C T Silent SNP ENST00000456763.6 exon13 c.C1437T p.R479R exonic ENSG00000137802.14 . synonymous SNV ENSG00000137802.14:ENST00000456763.6:exon13:c.C1437T:p.R479R 15q15.1 C3L-03123 3.302e-05 9.638e-05 0.0002 0 0 1.501e-05 0 0 rs150429615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAPKBP1 249 0 300 24 0.0740740740740741 TRUE NA ENSG00000168970.22 . BCM GRCh38.p13 chr15 41844572 41844572 + C C T Silent SNP ENST00000452633.5 exon13 c.C981T p.C327C exonic ENSG00000168970.22;ENSG00000243708.10 . synonymous SNV ENSG00000243708.10:ENST00000452633.5:exon13:c.C981T:p.C327C,ENSG00000168970.22:ENST00000382448.8:exon17:c.C1674T:p.C558C 15q15.1 C3L-03123 1.648e-05 9.612e-05 8.642e-05 0 0 0 0 0 rs754262196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58022293;OCCURENCE=1(large_intestine) JMJD7-PLA2G4B 427 1 495 46 0.0850277264325323 TRUE TRUE ENSG00000137877.10 . BCM GRCh38.p13 chr15 41867610 41867610 + C C T Silent SNP ENST00000320955.8 exon35 c.G6240A p.S2080S exonic ENSG00000137877.10 . synonymous SNV ENSG00000137877.10:ENST00000320955.8:exon35:c.G6240A:p.S2080S 15q15.1 C3L-03123 1.657e-05 0 0 0 0 0 0 0.0001 rs768341497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58025373;OCCURENCE=1(stomach) SPTBN5 467 0 588 73 0.110438729198185 TRUE TRUE ENSG00000166035.11 . BCM GRCh38.p13 chr15 58541892 58541892 + C C T Silent SNP ENST00000299022.10 exon3 c.C381T p.H127H exonic ENSG00000166035.11 . synonymous SNV ENSG00000166035.11:ENST00000299022.10:exon3:c.C381T:p.H127H 15q21.3 C3L-03123 8.73e-06 0 0 0 0 1.574e-05 0 0 rs776118661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LIPC 456 0 497 71 0.125 TRUE NA ENSG00000169118.18 . BCM GRCh38.p13 chr15 64207566 64207566 + G G A Silent SNP ENST00000303052.13 exon7 c.C708T p.A236A exonic ENSG00000169118.18 . synonymous SNV ENSG00000169118.18:ENST00000303052.13:exon7:c.C708T:p.A236A 15q22.31 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSNK1G1 357 0 414 29 0.0654627539503386 TRUE TRUE ENSG00000103811.17 . BCM GRCh38.p13 chr15 78931504 78931504 + C C T Silent SNP ENST00000220166.10 exon7 c.G495A p.A165A exonic ENSG00000103811.17 . synonymous SNV ENSG00000103811.17:ENST00000220166.10:exon7:c.G495A:p.A165A 15q25.1 C3L-03123 0.0002 0.0017 8.658e-05 0.0001 0 0 0 0 rs140674602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTSH 523 0 489 39 0.0738636363636364 TRUE NA ENSG00000103245.14 . BCM GRCh38.p13 chr16 736300 736300 + A A G Silent SNP ENST00000251588.7 exon4 c.T405C p.T135T exonic ENSG00000103245.14 . synonymous SNV ENSG00000103245.14:ENST00000251588.7:exon4:c.T405C:p.T135T 16p13.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CIAO3 361 1 389 43 0.099537037037037 TRUE TRUE ENSG00000100726.15 . BCM GRCh38.p13 chr16 1509924 1509924 + C C T Silent SNP ENST00000262319.11 exon21 c.C2502T p.P834P exonic ENSG00000100726.15 . synonymous SNV ENSG00000100726.15:ENST00000262319.11:exon21:c.C2502T:p.P834P 16p13.3 C3L-03123 5.066e-05 0 0 0 0 9.374e-05 0 0 rs776080837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TELO2 260 0 294 52 0.15028901734104 TRUE NA ENSG00000171490.13 . BCM GRCh38.p13 chr16 11846783 11846783 + G G A Silent SNP ENST00000571133.6 exon4 c.C445T p.L149L exonic ENSG00000171490.13 . synonymous SNV ENSG00000171490.13:ENST00000571133.6:exon4:c.C445T:p.L149L 16p13.13 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RSL1D1 312 0 368 28 0.0707070707070707 TRUE TRUE ENSG00000102871.16 . BCM GRCh38.p13 chr16 67155139 67155139 + C C T Silent SNP ENST00000345057.9 exon4 c.G585A p.P195P exonic ENSG00000102871.16 . synonymous SNV ENSG00000102871.16:ENST00000345057.9:exon4:c.G585A:p.P195P 16q22.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50757919;OCCURENCE=1(large_intestine) TRADD 318 0 426 52 0.108786610878661 NA TRUE ENSG00000103064.15 . BCM GRCh38.p13 chr16 68275062 68275062 + C C T Silent SNP ENST00000219343.11 exon3 c.C336T p.Y112Y exonic ENSG00000103064.15 . synonymous SNV ENSG00000103064.15:ENST00000219343.11:exon3:c.C336T:p.Y112Y 16q22.1 C3L-03123 8.236e-05 0 0 0 0 8.99e-05 0 0.0002 rs144605306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54718761;OCCURENCE=1(endometrium) SLC7A6 460 0 483 95 0.164359861591695 TRUE TRUE ENSG00000140836.17 . BCM GRCh38.p13 chr16 72959258 72959258 + C C T Silent SNP ENST00000268489.10 exon2 c.G888A p.S296S exonic ENSG00000140836.17 . synonymous SNV ENSG00000140836.17:ENST00000268489.10:exon2:c.G888A:p.S296S 16q22.3 C3L-03123 4.118e-05 0 0 0 0 2.997e-05 0 0.0002 rs377655061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFHX3 308 0 376 21 0.052896725440806 TRUE NA ENSG00000169992.10 . BCM GRCh38.p13 chr17 7417226 7417226 + G G A Silent SNP ENST00000302926.7 exon7 c.G1935A p.P645P exonic ENSG00000169992.10 . synonymous SNV ENSG00000169992.10:ENST00000302926.7:exon7:c.G1935A:p.P645P 17p13.1 C3L-03123 3.219e-05 0.0005 0 0 0 0 0 0 rs367900044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NLGN2 212 0 161 36 0.182741116751269 TRUE NA ENSG00000176994.11 . BCM GRCh38.p13 chr17 18316944 18316944 + A A G Silent SNP ENST00000406438.5 exon1 c.A1155G p.K385K exonic ENSG00000176994.11 . synonymous SNV ENSG00000176994.11:ENST00000406438.5:exon1:c.A1155G:p.K385K 17p11.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMCR8 232 0 255 47 0.155629139072848 TRUE NA ENSG00000160602.14 . BCM GRCh38.p13 chr17 28734872 28734872 + T T C Silent SNP ENST00000268766.11 exon3 c.T354C p.H118H exonic ENSG00000160602.14 . synonymous SNV ENSG00000160602.14:ENST00000268766.11:exon3:c.T354C:p.H118H 17q11.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NEK8 570 2 712 88 0.11 TRUE TRUE ENSG00000196535.16 . BCM GRCh38.p13 chr17 29115084 29115084 + G G A Silent SNP ENST00000527372.6 exon14 c.C2334T p.S778S exonic ENSG00000196535.16 . synonymous SNV ENSG00000196535.16:ENST00000527372.6:exon14:c.C2334T:p.S778S 17q11.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO18A 169 1 176 30 0.145631067961165 TRUE TRUE ENSG00000125686.12 . BCM GRCh38.p13 chr17 39410457 39410457 + C C T Silent SNP ENST00000300651.11 exon17 c.G1764A p.S588S exonic ENSG00000125686.12 . synonymous SNV ENSG00000125686.12:ENST00000300651.11:exon17:c.G1764A:p.S588S 17q12 C3L-03123 8.236e-06 0 0 0 0 1.498e-05 0 0 rs755797231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MED1 456 0 563 79 0.123052959501558 TRUE NA ENSG00000126368.6 . BCM GRCh38.p13 chr17 40095984 40095984 + C C T Silent SNP ENST00000246672.4 exon5 c.G708A p.P236P exonic ENSG00000126368.6 . synonymous SNV ENSG00000126368.6:ENST00000246672.4:exon5:c.G708A:p.P236P 17q21.1 C3L-03123 0.0002 0.0004 0.0002 0 0 0.0002 0.0012 0 rs147503529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99225674;OCCURENCE=1(endometrium) NR1D1 296 0 519 49 0.0862676056338028 TRUE NA ENSG00000049283.18 . BCM GRCh38.p13 chr17 50541329 50541329 + T T C Silent SNP ENST00000268933.8 exon8 c.T1350C p.P450P exonic ENSG00000049283.18 . synonymous SNV ENSG00000049283.18:ENST00000268933.8:exon8:c.T1350C:p.P450P 17q21.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPN3 169 0 232 34 0.12781954887218 TRUE TRUE ENSG00000167306.20 . BCM GRCh38.p13 chr18 49839163 49839163 + G G A Silent SNP ENST00000285039.12 exon36 c.C4833T p.G1611G exonic ENSG00000167306.20 . synonymous SNV ENSG00000167306.20:ENST00000285039.12:exon36:c.C4833T:p.G1611G 18q21.1 C3L-03123 9.109e-05 0.0008 0.0003 0 0 0 0 0 rs376462138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO5B 454 0 457 47 0.0932539682539683 TRUE NA ENSG00000105143.12 . BCM GRCh38.p13 chr19 14956691 14956691 + G G A Silent SNP ENST00000221742.7 exon6 c.C954T p.I318I exonic ENSG00000105143.12 . synonymous SNV ENSG00000105143.12:ENST00000221742.7:exon6:c.C954T:p.I318I 19p13.12 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC1A6 155 0 133 18 0.119205298013245 TRUE TRUE ENSG00000130477.15 . BCM GRCh38.p13 chr19 17630735 17630735 + G G A Silent SNP ENST00000519716.6 exon29 c.C3444T p.F1148F exonic ENSG00000130477.15 . synonymous SNV ENSG00000130477.15:ENST00000519716.6:exon29:c.C3444T:p.F1148F 19p13.11 C3L-03123 8.295e-06 0 0 0 0 0 0 6.059e-05 rs570146186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UNC13A 257 0 288 44 0.132530120481928 TRUE NA ENSG00000130283.9 . BCM GRCh38.p13 chr19 18869257 18869257 + C C T Silent SNP ENST00000247005.8 exon8 c.G459A p.A153A exonic ENSG00000130283.9;ENSG00000223802.7 . synonymous SNV ENSG00000130283.9:ENST00000247005.8:exon8:c.G459A:p.A153A,ENSG00000223802.7:ENST00000623927.1:exon8:c.G459A:p.A153A 19p13.11 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GDF1 250 0 223 41 0.15530303030303 TRUE TRUE ENSG00000198597.9 . BCM GRCh38.p13 chr19 30445392 30445392 + C C T Silent SNP ENST00000355537.4 exon2 c.C1830T p.H610H exonic ENSG00000198597.9 . synonymous SNV ENSG00000198597.9:ENST00000355537.4:exon2:c.C1830T:p.H610H 19q12 C3L-03123 5.767e-05 0 0.0005 0 0 0 0 6.057e-05 rs771230573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62830782;OCCURENCE=1(large_intestine),1(endometrium) ZNF536 403 0 437 55 0.111788617886179 TRUE TRUE ENSG00000196218.13 . BCM GRCh38.p13 chr19 38451796 38451796 + C C T Silent SNP ENST00000359596.8 exon12 c.C1155T p.D385D exonic ENSG00000196218.13 . synonymous SNV ENSG00000196218.13:ENST00000359596.8:exon12:c.C1155T:p.D385D 19q13.2 C3L-03123 8.262e-05 0.0002 8.645e-05 0.0006 0 3.009e-05 0 0 rs144658230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62091304;OCCURENCE=1(oesophagus),1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue) RYR1 708 0 814 122 0.13034188034188 TRUE TRUE ENSG00000263002.8 . BCM GRCh38.p13 chr19 44156637 44156637 + C C T Silent SNP ENST00000426739.7 exon6 c.C621T p.D207D exonic ENSG00000263002.8 . synonymous SNV ENSG00000263002.8:ENST00000426739.7:exon6:c.C621T:p.D207D 19q13.31 C3L-03123 8.241e-05 0.0006 0 0.0001 0 0 0 0.0002 rs375861956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV70604151;OCCURENCE=1(liver) ZNF234 366 2 381 76 0.166301969365427 NA TRUE ENSG00000142230.13 . BCM GRCh38.p13 chr19 47152912 47152912 + C C T Silent SNP ENST00000270225.12 exon4 c.C399T p.C133C exonic ENSG00000142230.13 . synonymous SNV ENSG00000142230.13:ENST00000270225.12:exon4:c.C399T:p.C133C 19q13.32 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SAE1 117 0 160 26 0.139784946236559 NA TRUE ENSG00000063169.10 . BCM GRCh38.p13 chr19 47694947 47694947 + C C T Silent SNP ENST00000396720.7 exon9 c.C2943T p.A981A exonic ENSG00000063169.10 . synonymous SNV ENSG00000063169.10:ENST00000396720.7:exon9:c.C2943T:p.A981A 19q13.33 C3L-03123 0.0017 0.0204 0.0002 0.0005 0 1.924e-05 0 0.0001 rs10415283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV104708512;OCCURENCE=1(skin) BICRA 27 0 47 9 0.160714285714286 TRUE NA ENSG00000104951.16 . BCM GRCh38.p13 chr19 49889883 49889883 + C C T Silent SNP ENST00000391826.7 exon8 c.G1491A p.A497A exonic ENSG00000104951.16 . synonymous SNV ENSG00000104951.16:ENST00000391826.7:exon8:c.G1491A:p.A497A 19q13.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55577025;OCCURENCE=2(large_intestine) IL4I1 148 0 195 23 0.105504587155963 TRUE TRUE ENSG00000160505.16 . BCM GRCh38.p13 chr19 55857912 55857912 + G G A Silent SNP ENST00000301295.11 exon3 c.G519A p.S173S exonic ENSG00000160505.16 . synonymous SNV ENSG00000160505.16:ENST00000301295.11:exon3:c.G519A:p.S173S 19q13.43 C3L-03123 8.238e-06 0 0 0 0 0 0 6.056e-05 rs749484722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56709907;OCCURENCE=3(oesophagus),1(large_intestine) NLRP4 363 0 402 44 0.0986547085201794 TRUE TRUE ENSG00000125878.6 . BCM GRCh38.p13 chr20 610222 610222 + G G A Silent SNP ENST00000246080.3 exon1 c.C16T p.L6L exonic ENSG00000125878.6 . synonymous SNV ENSG00000125878.6:ENST00000246080.3:exon1:c.C16T:p.L6L 20p13 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TCF15 56 0 86 8 0.0851063829787234 TRUE NA ENSG00000088888.18 . BCM GRCh38.p13 chr20 3865985 3865985 + G G A Silent SNP ENST00000428216.4 exon7 c.G1461A p.A487A exonic ENSG00000088888.18 . synonymous SNV ENSG00000088888.18:ENST00000428216.4:exon7:c.G1461A:p.A487A 20p13 C3L-03123 2.548e-05 0.0003 0 0 0 0 0 0 rs767756615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63927348;OCCURENCE=1(skin) MAVS 316 0 371 46 0.11031175059952 TRUE TRUE ENSG00000101294.18 . BCM GRCh38.p13 chr20 31514599 31514599 + C C T Silent SNP ENST00000340852.9 exon1 c.C48T p.G16G exonic ENSG00000101294.18 . synonymous SNV ENSG00000101294.18:ENST00000340852.9:exon1:c.C48T:p.G16G 20q11.21 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HM13 643 0 862 110 0.113168724279835 TRUE TRUE ENSG00000159140.21 . BCM GRCh38.p13 chr21 33554064 33554064 + T T C Silent SNP ENST00000356577.10 exon3 c.T4833C p.G1611G exonic ENSG00000159140.21 . synonymous SNV ENSG00000159140.21:ENST00000356577.10:exon3:c.T4833C:p.G1611G 21q22.11 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SON 301 0 320 23 0.0670553935860058 TRUE TRUE ENSG00000177398.18 . BCM GRCh38.p13 chr21 42127831 42127831 + C C T Silent SNP ENST00000408910.6 exon20 c.C3690T p.I1230I exonic ENSG00000177398.18 . synonymous SNV ENSG00000177398.18:ENST00000408910.6:exon20:c.C3690T:p.I1230I 21q22.3 C3L-03123 2.494e-05 0.0001 0 0.0002 0 0 0 0 rs1021984474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UMODL1 171 0 216 18 0.0769230769230769 TRUE NA ENSG00000099994.11 . BCM GRCh38.p13 chr22 24187254 24187254 + A A G Silent SNP ENST00000358321.4 exon11 c.A1695G p.S565S exonic ENSG00000099994.11 . synonymous SNV ENSG00000099994.11:ENST00000358321.4:exon11:c.A1695G:p.S565S 22q11.23 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUSD2 438 0 499 80 0.138169257340242 TRUE TRUE ENSG00000133454.16 . BCM GRCh38.p13 chr22 25847534 25847534 + A A G Silent SNP ENST00000335473.12 exon20 c.A3657G p.P1219P exonic ENSG00000133454.16 . synonymous SNV ENSG00000133454.16:ENST00000335473.12:exon20:c.A3657G:p.P1219P 22q12.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO18B 660 0 706 92 0.115288220551378 TRUE TRUE ENSG00000100154.14 . BCM GRCh38.p13 chr22 27982707 27982707 + G G T Silent SNP ENST00000397906.6 exon23 c.C6960A p.P2320P exonic ENSG00000100154.14 . synonymous SNV ENSG00000100154.14:ENST00000397906.6:exon23:c.C6960A:p.P2320P 22q12.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67416297;OCCURENCE=1(large_intestine) TTC28 255 0 333 35 0.0951086956521739 TRUE TRUE ENSG00000100078.4 . BCM GRCh38.p13 chr22 31136946 31136946 + G G A Silent SNP ENST00000215885.4 exon5 c.C1161T p.S387S exonic ENSG00000100078.4 . synonymous SNV ENSG00000100078.4:ENST00000215885.4:exon5:c.C1161T:p.S387S 22q12.2 C3L-03123 4.32e-05 0 0.0004 0 0 2.587e-05 0 0 rs777451080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLA2G3 154 1 174 27 0.134328358208955 TRUE NA ENSG00000130021.15 . BCM GRCh38.p13 chrX 7105834 7105834 + A A G Silent SNP ENST00000381077.10 exon2 c.T66C p.T22T exonic ENSG00000130021.15 . synonymous SNV ENSG00000130021.15:ENST00000381077.10:exon2:c.T66C:p.T22T Xp22.31 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PUDP 242 0 231 33 0.125 TRUE TRUE ENSG00000102054.18 . BCM GRCh38.p13 chrX 16852611 16852611 + A A G Silent SNP ENST00000380087.7 exon8 c.T903C p.D301D exonic ENSG00000102054.18 . synonymous SNV ENSG00000102054.18:ENST00000380087.7:exon8:c.T903C:p.D301D Xp22.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBBP7 242 0 240 34 0.124087591240876 TRUE TRUE ENSG00000071859.15 . BCM GRCh38.p13 chrX 154448524 154448524 + C C T Silent SNP ENST00000393600.8 exon5 c.C483T p.D161D exonic ENSG00000071859.15 . synonymous SNV ENSG00000071859.15:ENST00000393600.8:exon5:c.C483T:p.D161D Xq28 C3L-03123 1.142e-05 0 0 0.0002 0 0 0 0 rs782616761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM50A 304 0 321 35 0.098314606741573 TRUE NA ENSG00000054523.17 . BCM GRCh38.p13 chr1 10303310 10303310 + C C T Intron SNP NA NA NA NA intronic ENSG00000054523.17 . . . 1p36.22 C3L-03123 8.256e-06 9.684e-05 0 0 0 0 0 0 rs780600214 11.16 D D D D . D . T D 0.697 D D D 0.406 0.169 0.576 . . . T T T D 1.947 18.850 0.999 D N 0.554 5.487 0.547 5.620 1.000 0.707 0.546 0.725 0.714 . 6.130 5.210 2.450 1.023 0.593 1.000 0.996 0.992 236 . . . . KIF1B 708 0 701 69 0.0896103896103896 TRUE NA ENSG00000252151.1 . BCM GRCh38.p13 chr1 14180493 14180493 + G G A IGR SNP NA NA NA NA intergenic ENSG00000252151.1;ENSG00000231606.2 dist=56158;dist=41394 . . 1p36.21 C3L-03123 . . . . . . . . rs374201920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNU6-1265P 310 0 299 33 0.0993975903614458 TRUE NA ENSG00000143387.13 . BCM GRCh38.p13 chr1 150807301 150807301 + G G A Intron SNP NA NA NA NA intronic ENSG00000143387.13 . . . 1q21.3 C3L-03123 . . . . . . . . rs908212829 1.13 D . . . . N . T N . T T . 0.119 0.429 0.465 . . T T T T T 0.238 3.560 0.544 N N -0.857 0.575 -0.990 0.502 1.000 0.554 0.588 0.492 0.649 . 3.920 2.790 0.199 -0.040 -0.584 0.000 0.000 0.002 65 . . . . CTSK 259 0 273 24 0.0808080808080808 TRUE NA ENSG00000143554.14 . BCM GRCh38.p13 chr1 153775490 153775490 + C C T 5'UTR SNP NA NA NA NA UTR5 ENSG00000143554.14 ENST00000624995.4:c.-8C>T . . 1q21.3 C3L-03123 . . . . . . . . . 3.16 D D . . N N . T N 0.129 T T D 0.053 0.245 0.143 0.123 T T T T T . 0.520 6.715 0.990 N N -1.198 0.229 -1.274 0.227 1.000 0.442 0.522 0.504 0.373 . 4.360 -5.630 -0.273 -0.235 0.524 0.001 0.088 0.065 81 . . . . SLC27A3 579 1 723 54 0.0694980694980695 TRUE NA ENSG00000160818.16 . BCM GRCh38.p13 chr1 156597844 156597844 + C C T Intron SNP NA NA NA NA intronic ENSG00000160818.16 . . . 1q22 C3L-03123 0.0172 0.0151 0.0155 0.0319 0.0055 0.0154 0.0139 0.0207 rs62617853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPATCH4 184 0 197 24 0.108597285067873 TRUE NA ENSG00000163395.17 . BCM GRCh38.p13 chr1 201207224 201207224 + C C T Intron SNP NA NA NA NA intronic ENSG00000163395.17 . . . 1q32.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGFN1 331 0 357 44 0.109725685785536 TRUE TRUE ENSG00000150540.14 . BCM GRCh38.p13 chr2 137981321 137981321 + G G A Intron SNP NA NA NA NA intronic ENSG00000150540.14 . . . 2q22.1 C3L-03123 8.237e-06 0 0 0.0001 0 0 0 0 rs760879749 2.15 D D B B . N . . N 0.127 T T T 0.036 0.154 0.222 . . . T T T T -0.198 0.516 0.661 N N -1.364 0.132 -1.463 0.122 0.999 0.554 0.574 0.618 0.492 . 4.130 -2.800 -0.432 -0.938 -0.166 0.000 0.053 0.030 809 . . . ID=COSV54507117;OCCURENCE=1(cervix),1(large_intestine) HNMT 374 1 400 116 0.224806201550388 TRUE TRUE ENSG00000159692.15 . BCM GRCh38.p13 chr4 1238123 1238123 + G G A Intron SNP NA NA NA NA intronic ENSG00000159692.15 . . . 4p16.3 C3L-03123 0.0002 0.0001 0 0.0018 0 1.605e-05 0 0.0004 rs370349402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTBP1 213 0 244 40 0.140845070422535 TRUE NA ENSG00000159788.19 . BCM GRCh38.p13 chr4 3417657 3417657 + T T A Intron SNP NA NA NA NA intronic ENSG00000159788.19 . . . 4p16.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RGS12 80 0 91 5 0.0520833333333333 TRUE NA ENSG00000159788.19 . BCM GRCh38.p13 chr4 3428210 3428210 + C C T Intron SNP NA NA NA NA intronic ENSG00000159788.19 . . . 4p16.3 C3L-03123 3.361e-05 0 0 0.0001 0.0002 1.539e-05 0 6.101e-05 rs766043248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58748813;OCCURENCE=2(large_intestine) RGS12 149 0 174 24 0.121212121212121 TRUE NA ENSG00000145362.20 . BCM GRCh38.p13 chr4 113372562 113372562 + G G T Intron SNP NA NA NA NA intronic ENSG00000145362.20 . . . 4q26 C3L-03123 . . . . . . . . . 3.14 T T . . . D . D N 0.099 T T T 0.162 0.169 0.531 . . . T T T T 2.099 20.100 0.995 D N 0.172 3.182 0.231 3.337 0.942 0.563 0.574 0.609 0.542 . 5.660 3.760 1.652 1.176 0.676 1.000 1.000 0.995 608 . . . . ANK2 276 0 308 42 0.12 TRUE TRUE ENSG00000232633.4 . BCM GRCh38.p13 chr5 113340651 113340651 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000232633.4 . . . 5q22.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC079465.1 454 0 570 73 0.11353032659409 TRUE TRUE ENSG00000198624.13 . BCM GRCh38.p13 chr5 151183232 151183232 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000198624.13 ENST00000355417.7:c.*205G>A . . 5q33.1 C3L-03123 0.0014 0.0276 0.0053 0 0 0.0005 0 0 rs79663067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC69 674 0 668 77 0.103355704697987 TRUE NA ENSG00000145975.15 . BCM GRCh38.p13 chr6 4078899 4078899 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000145975.15 ENST00000274673.8:c.-1485C>T . . 6p25.2 C3L-03123 . . . . . . . . rs902801457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99212675;OCCURENCE=1(stomach) FAM217A 112 0 133 16 0.10738255033557 TRUE NA ENSG00000128573.26 . BCM GRCh38.p13 chr7 114690786 114690786 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000128573.26 ENST00000350908.9:c.*860C>T . . 7q31.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63483636;OCCURENCE=1(pancreas) FOXP2 350 0 375 54 0.125874125874126 TRUE NA ENSG00000105967.16 . BCM GRCh38.p13 chr7 116110792 116110792 + C C T IGR SNP NA NA NA NA intergenic ENSG00000105967.16;ENSG00000279086.1 dist=80029;dist=98442 . . 7q31.2 C3L-03123 . . . . . . . . . 1.16 T T B B . N . T N 0.235 T T T 0.022 0.280 0.171 . . . T T T T 1.495 15.700 0.974 D N -0.249 1.744 -0.127 1.973 0.999 0.624 0.660 0.574 0.621 . 5.050 4.170 2.219 1.026 0.594 0.807 0.997 0.908 658 . . . . TFEC 170 0 193 24 0.110599078341014 TRUE TRUE ENSG00000197558.13 . BCM GRCh38.p13 chr7 149800317 149800317 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000197558.13 . . . 7q36.1 C3L-03123 . . . . . . . . . 0.6 . T . . . . . . . 0.285 . . . . . 0.170 . T . T T . T 0.463 6.113 0.765 N . . . . . 0.603 0.057 0.078 0.074 0.058 0.221 4.520 -3.500 0.152 0.118 -0.269 0.000 0.103 0.210 982 . . . . SSPO 258 0 301 27 0.0823170731707317 TRUE TRUE ENSG00000204876.4 . BCM GRCh38.p13 chr7 155964751 155964751 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000204876.4 . . . 7q36.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC021218.1 82 0 87 12 0.121212121212121 TRUE NA ENSG00000167632.17 . BCM GRCh38.p13 chr8 140458550 140458550 + C C T 5'Flank SNP NA NA NA NA upstream ENSG00000167632.17 dist=806 . . 8q24.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAPPC9 390 0 492 68 0.121428571428571 TRUE TRUE ENSG00000147789.15 . BCM GRCh38.p13 chr8 144838062 144838062 + C C A Intron SNP NA NA NA NA intronic ENSG00000147789.15 . . . 8q24.3 C3L-03123 . . . . . . . . . 1.17 D T P P . N . T N 0.112 T T T 0.029 0.210 0.439 . . T T T T T -0.131 0.716 0.930 N N -0.597 0.994 -0.845 0.695 0.990 0.461 0.577 0.576 0.636 . 2.060 0.063 -1.250 0.704 0.599 0.000 0.005 0.006 754 . . . . ZNF7 250 0 302 35 0.103857566765579 TRUE TRUE ENSG00000147955.17 . BCM GRCh38.p13 chr9 34635629 34635629 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000147955.17 ENST00000277010.9:c.*3A>G . . 9p13.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SIGMAR1 689 0 968 73 0.0701248799231508 TRUE NA ENSG00000187753.13 . BCM GRCh38.p13 chr9 86229605 86229605 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000187753.13 ENST00000376001.7:c.-2C>T . . 9q21.33 C3L-03123 8.543e-06 0 0 0 0 1.548e-05 0 0 rs779590719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59251420;OCCURENCE=1(large_intestine),2(endometrium) C9orf153 299 0 289 40 0.121580547112462 TRUE NA ENSG00000232850.3 . BCM GRCh38.p13 chr9 128129127 128129127 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000232850.3 . . . 9q34.11 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL590708.1 450 0 554 63 0.102106969205835 TRUE NA ENSG00000160293.17 . BCM GRCh38.p13 chr9 133764061 133764061 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000160293.17 ENST00000371850.8:c.*1C>T . . 9q34.2 C3L-03123 0.0017 0.0007 0.0011 0.0001 0.0002 0.0024 0.0011 0.0012 rs145903019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VAV2 344 0 385 36 0.0855106888361045 TRUE NA ENSG00000160349.9 . BCM GRCh38.p13 chr9 135526452 135526452 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000160349.9 ENST00000263598.6:c.*105C>T . . 9q34.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LCN1 117 0 183 10 0.0518134715025907 TRUE NA ENSG00000152463.15 . BCM GRCh38.p13 chr10 15056836 15056836 + A A G Intron SNP NA NA NA NA intronic ENSG00000152463.15 . . . 10p13 C3L-03123 . . . . . . . . . 1.17 T T B B . N . T D 0.173 T T T 0.008 0.294 0.088 0.008 . T T T T T -0.048 1.062 0.523 N N -1.107 0.300 -1.248 0.245 0.000 0.554 0.588 0.574 0.530 . . . 0.376 -0.228 -0.276 0.003 0.001 0.001 895 . . . . OLAH 148 0 199 22 0.0995475113122172 TRUE TRUE ENSG00000198788.8 . BCM GRCh38.p13 chr11 1110350 1110350 + G G A IGR SNP NA NA NA NA intergenic ENSG00000198788.8;ENSG00000215182.8 dist=6894;dist=47603 . . 11p15.5 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC2 194 0 259 17 0.0615942028985507 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65502315 65502315 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 140 0 176 35 0.165876777251185 TRUE NA ENSG00000174871.11 . BCM GRCh38.p13 chr11 66281440 66281440 + C C T Intron SNP NA NA NA NA intronic ENSG00000174871.11 . . . 11q13.2 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNIH2 352 0 385 47 0.108796296296296 TRUE NA ENSG00000177098.8 . BCM GRCh38.p13 chr11 118133949 118133949 + A A C 3'UTR SNP NA NA NA NA UTR3 ENSG00000177098.8 ENST00000324727.8:c.*3078T>G . . 11q23.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN4B 183 0 184 27 0.127962085308057 TRUE NA ENSG00000151136.15 . BCM GRCh38.p13 chr12 107580977 107580977 + A A G Intron SNP NA NA NA NA intronic ENSG00000151136.15 . . . 12q23.3 C3L-03123 . . . . . . . . . 2.14 D T . . . D . T N 0.082 T T T 0.038 0.385 0.451 . . . T T T T 1.503 15.760 0.986 N N -0.775 0.692 -0.714 0.879 0.964 0.497 0.590 0.616 0.542 . 4.180 -0.006 0.156 1.293 0.686 0.033 0.915 0.895 777 . . . . BTBD11 371 0 344 65 0.158924205378973 TRUE NA ENSG00000151835.16 . BCM GRCh38.p13 chr13 23329463 23329463 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000151835.16 ENST00000382292.9:c.*673G>A . . 13q12.12 C3L-03123 . . . . . . . . . 0.9 . . . . . N . . . . T T . 0.173 . 0.410 . . . T T T T 0.645 7.942 0.870 N N -0.942 0.470 -1.024 0.460 1.000 0.706 0.710 0.659 0.613 . 5.840 -3.760 0.086 -0.216 0.599 0.006 0.128 0.679 988 . . . . SACS 184 0 205 18 0.0807174887892377 TRUE NA ENSG00000182957.16 . BCM GRCh38.p13 chr13 24249619 24249619 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000182957.16 ENST00000382095.8:c.-80G>A . . 13q12.12 C3L-03123 0.0001 0.0017 0 0 0 0 0 0 rs371511214 8.15 D T . . . D . T N 0.626 D D D 0.288 . 0.721 1.120 T . T T T D 4.109 27.800 0.999 D D 0.106 2.911 0.096 2.717 1.000 0.617 0.588 0.786 0.655 . 5.800 4.960 7.258 1.172 0.672 1.000 0.020 0.523 866 . . . . SPATA13 447 1 544 73 0.118314424635332 TRUE NA ENSG00000196364.9 . BCM GRCh38.p13 chr16 1262917 1262917 + A A G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000196364.9 . . . 16p13.3 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRSS29P 453 0 485 52 0.0968342644320298 TRUE NA ENSG00000226180.3 . BCM GRCh38.p13 chr16 87695638 87695638 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000226180.3 . . . 16q24.2 C3L-03123 . . . . . . . . rs767820964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC010536.1 310 0 375 43 0.102870813397129 TRUE NA ENSG00000005156.12 . BCM GRCh38.p13 chr17 35002998 35002998 + C C T Intron SNP NA NA NA NA intronic ENSG00000005156.12 . . . 17q12 C3L-03123 . . . . . . . . rs753303003 5.14 D D . . . D . T N 0.265 T T D 0.060 0.242 0.366 . . . T T T T 1.649 16.690 0.998 D N -0.397 1.389 -0.271 1.625 0.612 0.461 0.577 0.576 0.492 . 5.400 2.160 0.757 -0.237 -0.171 0.994 0.828 0.925 855 . . . . LIG3 284 0 392 40 0.0925925925925926 TRUE NA ENSG00000188662.6 . BCM GRCh38.p13 chr17 50171817 50171817 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000188662.6 . . . 17q21.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . H1-9P 472 1 571 101 0.150297619047619 TRUE NA ENSG00000131943.18 . BCM GRCh38.p13 chr19 29702425 29702425 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000131943.18 ENST00000392278.2:c.*287C>T . . 19q12 C3L-03123 . . . . . . . . rs996766909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf12 977 1 1055 140 0.117154811715481 TRUE NA ENSG00000186008.7 . BCM GRCh38.p13 chr19 34092908 34092908 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000186008.7 . . . 19q13.11 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPS4XP21 300 0 334 48 0.12565445026178 TRUE NA ENSG00000268049.1 . BCM GRCh38.p13 chr19 58359172 58359172 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000268049.1 . . . 19q13.43 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC012313.2 414 1 456 70 0.133079847908745 TRUE NA ENSG00000149451.18 . BCM GRCh38.p13 chr20 3669713 3669713 + T T A Intron SNP NA NA NA NA intronic ENSG00000149451.18 . . . 20p13 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAM33 263 0 345 28 0.0750670241286863 TRUE NA ENSG00000128165.9 . BCM GRCh38.p13 chr22 50482950 50482950 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000128165.9 ENST00000395737.2:c.*47C>T . . 22q13.33 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADM2 262 0 380 48 0.11214953271028 TRUE NA ENSG00000198223.16 . BCM GRCh38.p13 chrX 1309753 1309753 + C C T 3'UTR SNP NA NA NA NA UTR3 ENSG00000198223.16 ENST00000381524.8:c.*274C>T . . Xp22.33 C3L-03123 0.0069 0.0548 0.0091 0 0 0 0 0.0005 rs144177234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSF2RA 44 0 45 9 0.166666666666667 TRUE NA ENSG00000223611.5 . BCM GRCh38.p13 chrX 24314182 24314182 + C C T 5'Flank SNP NA NA NA NA upstream ENSG00000223611.5 dist=867 . . Xp22.11 C3L-03123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUPT20HL2 66 0 79 11 0.122222222222222 TRUE NA ENSG00000102225.16 . BCM GRCh38.p13 chrX 47223273 47223273 + C C T Intron SNP NA NA NA NA intronic ENSG00000102225.16 . . . Xp11.3 C3L-03123 0.0103 0.0039 0.0769 0.2442 0 0.0023 0.0331 0.0032 rs17550472 2.13 D T . . . P . T N 0.122 T T . 0.255 . . 1.266 T . T T T T 1.874 18.290 0.999 D . . . . . 1.000 . . . . . 4.170 4.170 3.526 0.969 0.587 0.999 0.276 0.009 541 . . . ID=COSV52094571;OCCURENCE=1(stomach),1(lung) CDK16 313 0 327 45 0.120967741935484 TRUE TRUE ENSG00000123569.8 . BCM GRCh38.p13 chrX 104013796 104013796 + G G A 5'Flank SNP NA NA NA NA upstream ENSG00000123569.8 dist=109 . . Xq22.2 C3L-03123 0.0006 0 0 0 0 0 0 0.0013 rs782170537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . H2BW1 262 0 327 40 0.108991825613079 TRUE NA ENSG00000060718.22 . BCM GRCh38.p13 chr1 103074775 103074775 + T T A Missense_Mutation SNP ENST00000370096.9 exon4 c.A494T p.H165L exonic ENSG00000060718.22 . nonsynonymous SNV ENSG00000060718.22:ENST00000370096.9:exon4:c.A494T:p.H165L 1p21.1 C3N-02010 . . . . . . . . . 20.20 D D D D D D M D D 0.957 D D D 0.937 0.748 0.985 0.628 D D D D D D 4.099 27.700 0.964 D D 0.976 13.180 0.905 13.986 1.000 0.638 0.574 0.653 0.564 . 5.730 5.730 8.014 1.138 0.665 1.000 1.000 0.997 826 Laminin_G_domain . . . COL11A1 291 0 192 31 0.139013452914798 TRUE TRUE ENSG00000162729.14 . BCM GRCh38.p13 chr1 160093863 160093863 + C C T Missense_Mutation SNP ENST00000314485.12 exon3 c.G751A p.D251N exonic ENSG00000162729.14 . nonsynonymous SNV ENSG00000162729.14:ENST00000314485.12:exon3:c.G751A:p.D251N 1q23.2 C3N-02010 1.657e-05 9.673e-05 0 0 0 1.508e-05 0 0 rs373796213 1.20 T T P B N D L T N 0.136 T T T 0.049 . 0.165 0.204 T T T T T T 1.405 15.120 0.988 N N -0.562 1.058 -0.592 1.059 1.000 0.719 0.723 0.644 0.655 . 3.740 2.780 1.948 1.026 0.549 0.006 0.355 0.311 754 Immunoglobulin_subtype . . . IGSF8 311 0 282 36 0.113207547169811 TRUE NA ENSG00000198626.17 . BCM GRCh38.p13 chr1 237627960 237627960 + C C T Missense_Mutation SNP ENST00000366574.7 exon41 c.C6320T p.T2107M exonic ENSG00000198626.17 . nonsynonymous SNV ENSG00000198626.17:ENST00000366574.7:exon41:c.C6320T:p.T2107M 1q43 C3N-02010 4.983e-05 0 8.678e-05 0.0001 0 3.005e-05 0 0.0001 rs370331492 17.19 D . D D D D M D D 0.736 D D D 0.805 . 0.903 0.775 T D T D D D 3.285 24.100 0.999 D D 0.769 8.205 0.682 7.422 0.998 0.554 0.574 0.618 0.564 . 5.170 5.170 7.881 1.026 0.549 1.000 0.876 0.224 911 . . . ID=COSV63683450;OCCURENCE=1(endometrium) RYR2 306 0 215 51 0.191729323308271 TRUE TRUE ENSG00000179921.15 . BCM GRCh38.p13 chr2 218262902 218262911 + GCTGGGCTGC GCTGGGCTGC - Frame_Shift_Del DEL ENST00000519574.2 exon2 c.178_187del p.A60Sfs*53 exonic ENSG00000179921.15 . frameshift deletion ENSG00000179921.15:ENST00000519574.2:exon2:c.178_187del:p.A60Sfs*53 2q35 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPBAR1 367 0 219 84 0.277227722772277 TRUE TRUE ENSG00000073803.14 . BCM GRCh38.p13 chr3 185473084 185473084 + C C T Nonsense_Mutation SNP ENST00000265026.8 exon11 c.C1753T p.R585X exonic ENSG00000073803.14 . stopgain ENSG00000073803.14:ENST00000265026.8:exon11:c.C1753T:p.R585X 3q27.2 C3N-02010 . . . . . . . . . 5.6 . . . . D A . . . 0.381 . . . . . . . . . D D . . 6.941 36 0.998 D N 0.701 7.132 0.558 5.739 1.000 0.563 0.654 0.602 0.568 . 5.470 4.600 3.816 0.096 0.599 1.000 0.753 0.978 739 . . . ID=COSV53983886;OCCURENCE=2(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(endometrium) MAP3K13 406 1 368 46 0.111111111111111 TRUE TRUE ENSG00000083857.14 . BCM GRCh38.p13 chr4 186709194 186709194 + A A C Missense_Mutation SNP ENST00000441802.7 exon2 c.T634G p.Y212D exonic ENSG00000083857.14 . nonsynonymous SNV ENSG00000083857.14:ENST00000441802.7:exon2:c.T634G:p.Y212D 4q35.2 C3N-02010 . . . . . . . . . 9.20 D D P P N D M T D 0.611 T T D 0.233 0.684 0.413 0.497 T T T T D D 2.692 22.800 0.929 D N -0.003 2.501 -0.152 1.905 0.997 0.672 0.574 0.702 0.668 . 5.200 1.330 3.511 0.315 0.691 1.000 0.011 0.127 945 Cadherin-like . . . FAT1 201 0 105 43 0.290540540540541 TRUE TRUE ENSG00000066230.12 . BCM GRCh38.p13 chr5 476297 476297 + G G A Missense_Mutation SNP ENST00000264938.8 exon13 c.C1972T p.R658W exonic ENSG00000066230.12 . nonsynonymous SNV ENSG00000066230.12:ENST00000264938.8:exon13:c.C1972T:p.R658W 5p15.33 C3N-02010 . . . . . . . . . 17.20 D D D P D D M T D 0.853 D D D 0.621 0.450 0.750 0.863 T D D D D D 4.255 29.200 0.999 D D 0.339 3.989 0.250 3.438 1.000 0.741 0.644 0.000 0.601 . 4.750 1.430 2.520 0.119 0.614 1.000 0.992 0.995 835 . . . ID=COSV53800318;OCCURENCE=1(large_intestine),1(prostate) SLC9A3 408 1 360 58 0.138755980861244 TRUE TRUE ENSG00000170561.13 . BCM GRCh38.p13 chr5 2749690 2749690 + G G A Missense_Mutation SNP ENST00000302057.6 exon2 c.C347T p.A116V exonic ENSG00000170561.13 . nonsynonymous SNV ENSG00000170561.13:ENST00000302057.6:exon2:c.C347T:p.A116V 5p15.33 C3N-02010 . . . . . . . . . 17.20 D D D P D D M D D 0.805 D D D 0.616 0.392 0.876 2.622 T T D D D D 4.368 31 0.999 D D 0.787 8.524 0.763 9.111 1.000 0.733 0.574 0.601 0.639 . 4.850 4.850 9.551 1.172 0.672 1.000 1.000 0.998 946 Homeobox_domain . . . IRX2 304 0 180 82 0.312977099236641 TRUE TRUE ENSG00000205359.10 . BCM GRCh38.p13 chr5 102373434 102373434 + C C T Missense_Mutation SNP ENST00000506729.6 exon13 c.G2078A p.R693H exonic ENSG00000205359.10 . nonsynonymous SNV ENSG00000205359.10:ENST00000506729.6:exon13:c.G2078A:p.R693H 5q21.1 C3N-02010 0.0001 0.0002 0 0 0.0002 0.0002 0 0 rs143214362 0.20 T T B B N N N T N 0.132 T T T 0.040 . 0.085 0.134 T T T T T T -1.520 0.001 0.329 N N -1.916 0.014 -1.994 0.014 0.000 0.487 0.574 0.574 0.564 . 3.070 -5.960 -5.298 -1.487 -1.710 0.000 0.000 0.000 253 . . . ID=COSV65813613;OCCURENCE=2(central_nervous_system) SLCO6A1 74 0 72 5 0.0649350649350649 TRUE NA ENSG00000113108.19 . BCM GRCh38.p13 chr5 140563900 140563900 + T T C Missense_Mutation SNP ENST00000357560.8 exon2 c.A65G p.D22G exonic ENSG00000113108.19 . nonsynonymous SNV ENSG00000113108.19:ENST00000357560.8:exon2:c.A65G:p.D22G 5q31.3 C3N-02010 . . . . . . . . . 13.20 D T D D D D L T D 0.836 T T D 0.429 0.429 0.798 1.048 T T D D D D 4.418 31 0.998 D D 0.551 5.454 0.578 5.964 1.000 0.733 0.522 0.601 0.581 . 5.130 5.130 7.835 1.138 0.665 1.000 0.992 0.872 216 . . . . APBB3 120 1 80 33 0.292035398230089 TRUE TRUE ENSG00000137261.14 . BCM GRCh38.p13 chr6 24588660 24588660 + - NA G Nonsense_Mutation SNP ENST00000378214.8 exon4 c.926dupC p.S310* exonic ENSG00000137261.14 . stopgain ENSG00000137261.14:ENST00000378214.8:exon4:c.926dupC:p.S310* 6p22.3 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KIAA0319 NA NA NA NA NA NA NA ENSG00000112763.17 . BCM GRCh38.p13 chr6 26459485 26459485 + G G C Missense_Mutation SNP ENST00000312541.10 exon3 c.G87C p.Q29H exonic ENSG00000112763.17 . nonsynonymous SNV ENSG00000112763.17:ENST00000312541.10:exon3:c.G87C:p.Q29H 6p22.2 C3N-02010 . . . . . . . . . 8.20 T D P B D D M T D 0.291 T T D 0.427 0.687 0.880 0.151 T T T T T D 1.527 15.910 0.969 D N -0.089 2.211 -0.163 1.878 1.000 0.722 0.686 0.644 0.735 . 3.120 2.230 0.402 1.151 0.618 0.955 0.841 0.238 654 Immunoglobulin-like_domain . . . BTN2A1 113 0 101 10 0.0900900900900901 NA TRUE ENSG00000112763.17 . BCM GRCh38.p13 chr6 26459531 26459531 + G G A Missense_Mutation SNP ENST00000312541.10 exon3 c.G133A p.E45K exonic ENSG00000112763.17 . nonsynonymous SNV ENSG00000112763.17:ENST00000312541.10:exon3:c.G133A:p.E45K 6p22.2 C3N-02010 . . . . . . . . . 9.20 D D D D N D M T N 0.297 T T T 0.180 0.498 0.524 0.389 T T T T D D 3.456 24.600 0.999 D N 0.286 3.706 0.131 2.865 1.000 0.722 0.686 0.644 0.735 . 3.120 3.120 1.811 1.151 0.618 0.903 0.273 0.164 654 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . BTN2A1 183 0 194 29 0.130044843049327 TRUE TRUE ENSG00000181220.17 . BCM GRCh38.p13 chr7 149475052 149475052 + C C T Missense_Mutation SNP ENST00000340622.8 exon7 c.G1267A p.E423K exonic ENSG00000181220.17 . nonsynonymous SNV ENSG00000181220.17:ENST00000340622.8:exon7:c.G1267A:p.E423K 7q36.1 C3N-02010 . . . . . . . . . 0.20 T T B B U N N T N 0.104 T T T 0.066 0.462 0.340 0.683 T T T T T T 1.124 13.000 0.874 N N -0.819 0.627 -0.727 0.861 0.976 0.658 0.577 0.660 0.636 . 4.430 3.550 1.773 0.125 0.599 0.224 0.883 0.944 934 . . . . ZNF746 108 0 82 31 0.274336283185841 TRUE TRUE ENSG00000107105.15 . BCM GRCh38.p13 chr9 23762020 23762020 + C C T Missense_Mutation SNP ENST00000397312.7 exon2 c.G215A p.R72K exonic ENSG00000107105.15 . nonsynonymous SNV ENSG00000107105.15:ENST00000397312.7:exon2:c.G215A:p.R72K 9p21.3 C3N-02010 . . . . . . . . . 13.20 D D P B D D L T D 0.842 T T D 0.262 0.642 0.849 1.146 D T D D D D 3.060 23.500 0.994 D D 0.335 3.967 0.478 4.966 1.000 0.563 0.574 0.609 0.621 . 5.920 5.920 6.156 1.026 0.549 1.000 1.000 0.999 809 RNA_recognition_motif_domain;Splicing_factor_ELAV/Hu,_RNA_recognition_motif_1 . . . ELAVL2 147 0 63 29 0.315217391304348 TRUE NA ENSG00000197969.14 . BCM GRCh38.p13 chr9 77213241 77213241 + G G A Missense_Mutation SNP ENST00000360280.8 exon9 c.G623A p.R208Q exonic ENSG00000197969.14 . nonsynonymous SNV ENSG00000197969.14:ENST00000360280.8:exon9:c.G623A:p.R208Q 9q21.2 C3N-02010 0.0002 0 0.0007 0.0019 0 0 0 0.0001 rs201208791 5.20 T T D P D D L T N 0.254 T T T 0.145 0.488 0.503 0.155 T T T T T D 2.239 21.200 0.973 D N -0.319 1.568 -0.278 1.610 0.910 0.732 0.709 0.651 0.728 . 5.950 2.150 3.538 -1.073 -1.485 1.000 0.975 0.948 760 Vacuolar_protein_sorting-associated_protein_13,_second_N-terminal_domain . . . VPS13A 162 0 71 34 0.323809523809524 TRUE NA ENSG00000138308.6 . BCM GRCh38.p13 chr10 72954651 72954651 + A A G Missense_Mutation SNP ENST00000373032.4 exon1 c.T35C p.L12P exonic ENSG00000138308.6 . nonsynonymous SNV ENSG00000138308.6:ENST00000373032.4:exon1:c.T35C:p.L12P 10q22.1 C3N-02010 . . . . . . . . . 12.19 D D D D D D M . N 0.753 T T T 0.674 0.865 0.408 0.472 T T D D D T 4.075 27.500 0.999 D D 0.618 6.107 0.586 6.047 1.000 0.487 0.574 0.492 0.530 . 5.650 5.650 5.810 1.207 0.756 1.000 0.965 0.883 935 . . . . PLA2G12B 223 1 160 24 0.130434782608696 TRUE TRUE ENSG00000183389.5 . BCM GRCh38.p13 chr11 6002551 6002551 + C C T Missense_Mutation SNP ENST00000641156.1 exon3 c.G442A p.V148M exonic ENSG00000183389.5 . nonsynonymous SNV ENSG00000183389.5:ENST00000641156.1:exon3:c.G442A:p.V148M 11p15.4 C3N-02010 2.474e-05 0 0 0 0 1.5e-05 0 0.0001 rs764719331 1.20 D T P B U N L T N 0.094 T T T 0.071 0.619 0.237 0.217 T T T T T T 0.262 3.849 0.980 N N -0.703 0.808 -0.892 0.631 0.000 0.487 0.574 0.547 0.564 . 3.590 -1.620 -1.897 0.125 0.599 0.000 0.048 0.205 808 GPCR,_rhodopsin-like,_7TM . . ID=COSV58110383;OCCURENCE=1(urinary_tract) OR56A4 247 1 179 63 0.260330578512397 TRUE TRUE ENSG00000149054.16 . BCM GRCh38.p13 chr11 6956253 6956253 + C C G Missense_Mutation SNP ENST00000278319.10 exon7 c.C1276G p.Q426E exonic ENSG00000149054.16 . nonsynonymous SNV ENSG00000149054.16:ENST00000278319.10:exon7:c.C1276G:p.Q426E 11p15.4 C3N-02010 . . . . . . . . . 5.20 D D P B N D L T N 0.148 T T T 0.155 0.603 0.698 0.025 T T T T D D 1.923 18.670 0.987 N N -0.374 1.440 -0.389 1.393 0.889 0.707 0.670 0.725 0.655 . 4.850 2.930 0.491 -0.042 -0.224 0.173 0.994 0.965 769 Zinc_finger_C2H2-type . . . ZNF215 161 0 81 34 0.295652173913043 TRUE TRUE ENSG00000235718.9 . BCM GRCh38.p13 chr11 119346276 119346276 + C C T Nonsense_Mutation SNP ENST00000619721.6 exon2 c.G153A p.W51X exonic ENSG00000235718.9 . stopgain ENSG00000235718.9:ENST00000619721.6:exon2:c.G153A:p.W51X 11q23.3 C3N-02010 . . . . . . . . . 5.6 . . . . D D . . . 0.630 . . . . . . . . . D D . . 7.303 37 0.995 D N 0.733 7.614 0.577 5.945 1.000 0.497 0.590 0.547 0.542 . 4.690 4.690 1.471 1.026 0.599 0.909 0.858 0.474 749 . . . . MFRP 662 1 534 146 0.214705882352941 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245351 25245351 + C C G Missense_Mutation SNP ENST00000256078.10 exon2 c.G34C p.G12R exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G34C:p.G12R 12p12.1 C3N-02010 . . . . . . . . rs121913530 16.20 D D P P D D L T D 0.927 D D D 0.821 0.721 0.943 2.165 D D D D D D 3.764 25.700 0.999 D D 0.678 6.825 0.715 8.034 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497582;OCCURENCE=10(breast),1(peritoneum),1(oesophagus),3(cervix),316(large_intestine),2(central_nervous_system),34(biliary_tract),33(ovary),8(bone),4(NS),1(stomach),33(haematopoietic_and_lymphoid_tissue),1(soft_tissue),11(urinary_tract),911(pancreas),2(gastrointestinal_tract_(site_indeterminate)),5(skin),4(prostate),107(lung),31(thyroid),2(upper_aerodigestive_tract),7(testis),3(small_intestine),4(endometrium) KRAS 273 1 180 88 0.328358208955224 TRUE TRUE ENSG00000174106.3 . BCM GRCh38.p13 chr12 65245936 65245936 + G G A Missense_Mutation SNP ENST00000308330.3 exon12 c.G2569A p.D857N exonic ENSG00000174106.3 . nonsynonymous SNV ENSG00000174106.3:ENST00000308330.3:exon12:c.G2569A:p.D857N 12q14.3 C3N-02010 . . . . . . . . . 12.20 D D P P D D M T D 0.679 T T T 0.227 0.537 0.736 . D D T T D D 4.470 32 0.999 D D 0.633 6.274 0.675 7.302 0.999 0.732 0.744 0.710 0.728 . 5.170 5.170 9.326 1.176 0.665 1.000 1.000 0.995 693 MAN1,_RNA_recognition_motif . . . LEMD3 311 0 331 43 0.114973262032086 TRUE TRUE ENSG00000133116.8 . BCM GRCh38.p13 chr13 33061126 33061126 + C C A Missense_Mutation SNP ENST00000380099.4 exon4 c.C2047A p.L683I exonic ENSG00000133116.8 . nonsynonymous SNV ENSG00000133116.8:ENST00000380099.4:exon4:c.C2047A:p.L683I 13q13.1 C3N-02010 1.651e-05 0.0002 0 0 0 0 0 0 rs372004513 1.20 T T B B N N L T N 0.269 T T T 0.031 . 0.325 0.161 T T T T T T 0.870 10.120 0.873 D N -0.978 0.428 -0.970 0.528 0.997 0.554 0.588 0.573 0.613 . 5.810 -1.260 0.658 -1.792 -0.780 0.999 0.001 0.163 546 . . . . KL 109 1 68 28 0.291666666666667 TRUE NA ENSG00000174015.10 . BCM GRCh38.p13 chr13 45714001 45714001 + G G A Missense_Mutation SNP ENST00000310521.6 exon3 c.G976A p.A326T exonic ENSG00000174015.10 . nonsynonymous SNV ENSG00000174015.10:ENST00000310521.6:exon3:c.G976A:p.A326T 13q14.13 C3N-02010 0 0 0 0 0 0 0 0 rs540448583 2.20 T T B B N N L T N 0.085 T T D 0.043 0.332 0.193 0.335 T T T T T T 0.927 10.730 0.957 D N -0.910 0.507 -0.881 0.646 0.073 0.403 0.578 0.578 0.563 . 4.900 1.220 1.292 -0.132 -0.129 0.797 0.017 0.059 717 . . . ID=COSV60118895;OCCURENCE=1(pancreas) CBY2 60 0 42 5 0.106382978723404 NA TRUE ENSG00000197616.12 . BCM GRCh38.p13 chr14 23389665 23389665 + C C T Missense_Mutation SNP ENST00000405093.8 exon27 c.G3787A p.V1263M exonic ENSG00000197616.12 . nonsynonymous SNV ENSG00000197616.12:ENST00000405093.8:exon27:c.G3787A:p.V1263M 14q11.2 C3N-02010 4.119e-05 0.0003 0 0 0 2.997e-05 0 0 rs375819633 1.19 T T B B . N N T N 0.167 T T D 0.204 . 0.599 0.255 T T T T T T -1.923 0.001 0.877 N N -2.318 0.002 -2.395 0.002 1.000 0.497 0.590 0.578 0.613 . 4.820 -9.630 -2.027 -4.344 -4.235 0.000 0.007 0.028 368 Myosin_tail . . . MYH6 563 0 415 169 0.289383561643836 TRUE TRUE ENSG00000066735.14 . BCM GRCh38.p13 chr14 104171855 104171855 + G G A Missense_Mutation SNP ENST00000423312.6 exon6 c.G1246A p.A416T exonic ENSG00000066735.14 . nonsynonymous SNV ENSG00000066735.14:ENST00000423312.6:exon6:c.G1246A:p.A416T 14q32.33 C3N-02010 . . . . . . . . . 2.19 D T P B . N L T N 0.066 T T D 0.205 . 0.937 0.085 T T T T T T 1.013 11.780 0.982 N N -0.872 0.556 -0.966 0.532 1.000 0.742 0.547 0.775 0.605 . 3.450 0.403 1.235 -0.780 -0.716 0.005 0.005 0.170 553 Kinesin_motor_domain . . . KIF26A 223 0 241 90 0.27190332326284 TRUE NA ENSG00000180357.9 . BCM GRCh38.p13 chr15 64674331 64674331 + G G A Missense_Mutation SNP ENST00000326648.4 exon4 c.G1477A p.V493I exonic ENSG00000180357.9 . nonsynonymous SNV ENSG00000180357.9:ENST00000326648.4:exon4:c.G1477A:p.V493I 15q22.31 C3N-02010 0.0005 9.621e-05 8.637e-05 0.0012 0.0003 0.0004 0 0.0008 rs200890644 4.20 T T B B D D N T N 0.162 T T T 0.028 . 0.043 0.228 T T T T T D 2.068 19.770 0.976 D N 0.007 2.534 0.213 3.248 1.000 0.707 0.725 0.725 0.714 . 5.610 5.610 4.519 1.176 0.676 1.000 0.998 0.989 306 . . . ID=COSV58583491;OCCURENCE=3(central_nervous_system),2(stomach),1(kidney),1(prostate),1(lung) ZNF609 215 0 116 57 0.329479768786127 TRUE 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-02010 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 342 0 190 118 0.383116883116883 TRUE TRUE ENSG00000129646.14 . BCM GRCh38.p13 chr17 76275858 76275858 + G G A Missense_Mutation SNP ENST00000262765.10 exon18 c.C4945T p.R1649W exonic ENSG00000129646.14 . nonsynonymous SNV ENSG00000129646.14:ENST00000262765.10:exon18:c.C4945T:p.R1649W 17q25.1 C3N-02010 8.4e-06 0 0 0 0 0 0 6.076e-05 rs748067581 10.19 D D D D . D L T D 0.628 T T D 0.128 0.105 0.102 0.696 T T T T D D 3.615 25.100 0.996 D N 0.078 2.800 0.039 2.499 1.000 0.646 0.551 0.645 0.528 . 3.880 3.880 1.246 1.083 0.676 0.911 0.892 0.179 964 . . . . QRICH2 249 0 124 67 0.350785340314136 TRUE NA ENSG00000141452.10 . BCM GRCh38.p13 chr18 23527860 23527860 + G G A Missense_Mutation SNP ENST00000269221.8 exon14 c.G1255A p.E419K exonic ENSG00000141452.10 . nonsynonymous SNV ENSG00000141452.10:ENST00000269221.8:exon14:c.G1255A:p.E419K 18q11.2 C3N-02010 . . . . . . . . . 9.17 D T P B D D . . N 0.677 T T T 0.198 0.401 0.134 0.598 . T D D D D 3.145 23.700 0.998 D D 0.282 3.687 0.423 4.528 1.000 0.732 0.702 0.744 0.714 . 5.340 5.340 9.564 1.176 0.676 1.000 0.994 0.994 850 . . . . RMC1 173 0 141 53 0.27319587628866 TRUE TRUE ENSG00000181143.15 . BCM GRCh38.p13 chr19 8959941 8959941 + C C T Missense_Mutation SNP ENST00000397910.8 exon3 c.G16829A p.R5610Q exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.G16829A:p.R5610Q 19p13.2 C3N-02010 1.66e-05 0 0 0 0 1.501e-05 0 6.058e-05 rs761072024 0.15 T T . . . N . T N 0.071 T T T 0.077 0.254 0.048 . T . T T T T -0.420 0.175 0.367 N N -1.047 0.356 -1.258 0.238 0.000 0.554 0.574 0.618 0.564 . 1.460 -2.920 -3.305 -2.978 -0.486 0.000 0.000 0.001 905 . . . ID=COSV67470593;OCCURENCE=1(liver),1(oesophagus),1(large_intestine) MUC16 292 0 129 97 0.429203539823009 TRUE TRUE ENSG00000089050.16 . BCM GRCh38.p13 chr20 18489768 18489768 + G G A Missense_Mutation SNP ENST00000337227.9 exon5 c.C557T p.A186V exonic ENSG00000089050.16 . nonsynonymous SNV ENSG00000089050.16:ENST00000337227.9:exon5:c.C557T:p.A186V 20p11.23 C3N-02010 . . . . . . . . . 3.19 D D B B N N L . N 0.055 T T T 0.127 0.433 0.262 0.151 T T T T T T 1.929 18.710 0.986 D N -0.654 0.892 -0.642 0.984 0.015 0.707 0.725 0.609 0.714 . 4.880 -1.150 1.076 0.161 0.671 0.945 0.918 0.858 526 . . . . RBBP9 84 0 54 30 0.357142857142857 TRUE TRUE ENSG00000154654.15 . BCM GRCh38.p13 chr21 21335590 21335590 + G G T Missense_Mutation SNP ENST00000400546.6 exon7 c.G823T p.D275Y exonic ENSG00000154654.15 . nonsynonymous SNV ENSG00000154654.15:ENST00000400546.6:exon7:c.G823T:p.D275Y 21q21.1 C3N-02010 . . . . . . . . . 19.20 D D D D D D M D D 0.970 D D D 0.884 0.709 0.857 0.456 T D D D D D 4.227 28.900 0.995 D D 0.838 9.566 0.740 8.582 0.973 0.554 0.574 0.574 0.621 . 5.320 5.320 7.220 1.155 0.618 1.000 0.737 0.641 999 Immunoglobulin_V-set_domain;Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_I-set;Immunoglobulin_subtype . . . NCAM2 123 0 53 23 0.302631578947368 TRUE TRUE ENSG00000206203.5 . BCM GRCh38.p13 chr22 19131739 19131739 + C C T Missense_Mutation SNP ENST00000399635.4 exon1 c.C340T p.R114C exonic ENSG00000206203.5 . nonsynonymous SNV ENSG00000206203.5:ENST00000399635.4:exon1:c.C340T:p.R114C 22q11.21 C3N-02010 0.0002 0.0016 0 0 0 1.5e-05 0 6.06e-05 rs142708655 13.20 D D D P D D M D D 0.296 D D D 0.545 . 0.946 0.589 T T T D T D 3.014 23.400 0.999 N N 0.305 3.805 0.228 3.324 1.000 0.000 0.573 0.508 0.492 . 5.480 5.480 1.581 1.008 0.599 0.030 0.650 0.534 878 Protein_kinase_domain . . ID=COSV52818638;OCCURENCE=1(oesophagus),1(central_nervous_system) TSSK2 173 0 129 45 0.258620689655172 TRUE TRUE ENSG00000183762.12 . BCM GRCh38.p13 chr22 29140335 29140335 + G G T Missense_Mutation SNP ENST00000407188.5 exon8 c.G1222T p.V408L exonic ENSG00000183762.12 . nonsynonymous SNV ENSG00000183762.12:ENST00000407188.5:exon8:c.G1222T:p.V408L 22q12.1 C3N-02010 . . . . . . . . . 1.20 T T B B N D N T N 0.115 T T T 0.089 0.467 0.294 0.172 T T T T T T 1.184 13.510 0.799 N N -1.012 0.391 -0.938 0.570 1.000 0.653 0.574 0.676 0.616 . 5.530 -2.540 0.424 1.176 0.676 0.159 1.000 1.000 506 . . . . KREMEN1 200 0 175 44 0.200913242009132 TRUE TRUE ENSG00000056972.20 . BCM GRCh38.p13 chr6 111567623 111567623 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000056972.20 ENST00000340026.10:exon7:c.1386+1G>A . . 6q21 C3N-02010 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.527 34 0.995 D . 1.167 21.118 1.031 20.850 1.000 0.322 0.319 0.084 0.127 0.990 5.760 5.760 6.309 1.026 0.599 1.000 1.000 0.980 426 . . . . TRAF3IP2 133 0 107 23 0.176923076923077 TRUE TRUE ENSG00000033122.21 . BCM GRCh38.p13 chr1 70023191 70023191 + G G T Silent SNP ENST00000651989.2 exon17 c.G1611T p.L537L exonic ENSG00000033122.21 . synonymous SNV ENSG00000033122.21:ENST00000651989.2:exon17:c.G1611T:p.L537L 1p31.1 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRC7 49 0 43 24 0.358208955223881 TRUE TRUE ENSG00000096264.14 . BCM GRCh38.p13 chr6 41336202 41336202 + G G A Silent SNP ENST00000373089.10 exon2 c.G168A p.K56K exonic ENSG00000096264.14 . synonymous SNV ENSG00000096264.14:ENST00000373089.10:exon2:c.G168A:p.K56K 6p21.1 C3N-02010 . . . . . . . . rs865913443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NCR2 284 0 465 82 0.149908592321755 TRUE NA ENSG00000004846.16 . BCM GRCh38.p13 chr7 20643310 20643310 + T T A Silent SNP ENST00000404938.6 exon6 c.T441A p.V147V exonic ENSG00000004846.16 . synonymous SNV ENSG00000004846.16:ENST00000404938.6:exon6:c.T441A:p.V147V 7p21.1 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCB5 127 0 85 36 0.297520661157025 TRUE TRUE ENSG00000164867.11 . BCM GRCh38.p13 chr7 150999226 150999226 + C C T Silent SNP ENST00000297494.8 exon9 c.C993T p.Y331Y exonic ENSG00000164867.11 . synonymous SNV ENSG00000164867.11:ENST00000297494.8:exon9:c.C993T:p.Y331Y 7q36.1 C3N-02010 8.424e-06 0 0 0 0 1.543e-05 0 0 rs370490675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52489831;OCCURENCE=2(large_intestine),1(urinary_tract),1(pancreas) NOS3 93 0 87 37 0.298387096774194 TRUE TRUE ENSG00000108018.15 . BCM GRCh38.p13 chr10 106629350 106629350 + G G A Silent SNP ENST00000263054.10 exon19 c.C2514T p.G838G exonic ENSG00000108018.15 . synonymous SNV ENSG00000108018.15:ENST00000263054.10:exon19:c.C2514T:p.G838G 10q25.1 C3N-02010 1.659e-05 0 0 0 0 3.011e-05 0 0 rs144932995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53883534;OCCURENCE=1(central_nervous_system),1(stomach),1(endometrium) SORCS1 102 0 79 16 0.168421052631579 TRUE TRUE ENSG00000172572.6 . BCM GRCh38.p13 chr12 20369503 20369503 + G G C Silent SNP ENST00000359062.3 exon1 c.G219C p.L73L exonic ENSG00000172572.6 . synonymous SNV ENSG00000172572.6:ENST00000359062.3:exon1:c.G219C:p.L73L 12p12.2 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE3A 150 0 111 52 0.319018404907975 TRUE TRUE ENSG00000139116.18 . BCM GRCh38.p13 chr12 39301632 39301632 + C C T Silent SNP ENST00000361418.9 exon37 c.G4779A p.V1593V exonic ENSG00000139116.18 . synonymous SNV ENSG00000139116.18:ENST00000361418.9:exon37:c.G4779A:p.V1593V 12q12 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62775337;OCCURENCE=1(biliary_tract) KIF21A 164 0 82 55 0.401459854014599 TRUE TRUE ENSG00000270123.4 . BCM GRCh38.p13 chr5 136080526 136080526 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000270123.4;ENSG00000278815.1 . . . 5q31.1 C3N-02010 . . . . . . . . rs954556926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VTRNA2-1 131 0 84 34 0.288135593220339 TRUE NA ENSG00000109881.17 . BCM GRCh38.p13 chr11 27350270 27350270 + T T G Intron SNP NA NA NA NA intronic ENSG00000109881.17 . . . 11p14.1 C3N-02010 . . . . . . . . . 1.16 D T B B . N . T N 0.181 T T T 0.026 0.242 0.122 . . . T T T T 0.404 5.475 0.716 N N -1.010 0.394 -1.105 0.371 1.000 0.554 0.588 0.547 0.621 . 4.190 0.056 0.019 0.200 -0.194 0.001 0.006 0.063 623 . . . . CCDC34 72 1 57 6 0.0952380952380952 NA TRUE ENSG00000251562.8 . BCM GRCh38.p13 chr11 65505172 65505175 + TTTA TTTA - RNA DEL NA NA NA NA ncRNA_intronic ENSG00000251562.8 . . . 11q13.1 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 139 0 92 30 0.245901639344262 TRUE NA ENSG00000204529.4 . BCM GRCh38.p13 chr11 76719522 76719522 + G G T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000204529.4 . . . 11q13.5 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GUCY2EP 52 3 29 8 0.216216216216216 TRUE NA ENSG00000258167.1 . BCM GRCh38.p13 chr12 40429573 40429573 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000258167.1 . . . 12q12 C3N-02010 0.0028 0 0 0 0 0.0016 0 0.0053 rs79310720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC107023.1 116 0 72 25 0.257731958762887 TRUE NA ENSG00000223611.5 . BCM GRCh38.p13 chrX 24311635 24311635 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000223611.5 . . . Xp22.11 C3N-02010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUPT20HL2 224 0 93 45 0.326086956521739 TRUE NA ENSG00000134262.13 . BCM GRCh38.p13 chr1 113897901 113897901 + T T A Missense_Mutation SNP ENST00000369569.6 exon7 c.A1241T p.Q414L exonic ENSG00000134262.13 . nonsynonymous SNV ENSG00000134262.13:ENST00000369569.6:exon7:c.A1241T:p.Q414L 1p13.2 C3L-01031 . . . . . . . . . 12.20 D T D D D D M T D 0.716 T T D 0.463 0.528 0.508 0.524 T T T T D D 4.145 28.200 0.996 D D 0.614 6.072 0.643 6.814 1.000 0.706 0.725 0.710 0.714 . 5.510 5.510 7.375 1.138 0.665 1.000 1.000 0.998 576 Clathrin/coatomer_adaptor,_adaptin-like,_N-terminal . . . AP4B1 374 0 750 274 0.267578125 TRUE TRUE ENSG00000117691.10 . BCM GRCh38.p13 chr1 212445866 212445866 + G G C Missense_Mutation SNP ENST00000366988.5 exon4 c.G379C p.E127Q exonic ENSG00000117691.10 . nonsynonymous SNV ENSG00000117691.10:ENST00000366988.5:exon4:c.G379C:p.E127Q 1q32.3 C3L-01031 . . . . . . . . . 5.20 T D B B N N L T N 0.061 T T D 0.255 0.414 0.846 0.050 T T T T D T 2.782 23.000 0.990 D D -0.018 2.447 0.134 2.877 0.114 0.706 0.725 0.710 0.613 . 4.920 4.920 5.141 1.176 0.618 1.000 0.918 0.861 761 Cytochrome_b5-like_heme/steroid_binding_domain . . . NENF 221 0 585 36 0.0579710144927536 TRUE TRUE ENSG00000084774.14 . BCM GRCh38.p13 chr2 27242890 27242890 + G G C Missense_Mutation SNP ENST00000264705.9 exon42 c.G6397C p.E2133Q exonic ENSG00000084774.14 . nonsynonymous SNV ENSG00000084774.14:ENST00000264705.9:exon42:c.G6397C:p.E2133Q 2p23.3 C3L-01031 . . . . . . . . . 14.20 T T D D D D M D N 0.774 T T D 0.759 0.513 0.875 1.257 T D D D D D 3.571 24.900 0.998 D D 0.520 5.196 0.584 6.023 1.000 0.707 0.702 0.702 0.714 . 5.280 5.280 9.118 1.157 0.654 1.000 0.992 0.633 251 Aspartate/ornithine_carbamoyltransferase,_Asp/Orn-binding_domain . . . CAD 161 0 572 37 0.0607553366174056 TRUE TRUE ENSG00000124383.9 . BCM GRCh38.p13 chr2 71141280 71141280 + G G A Missense_Mutation SNP ENST00000244230.7 exon7 c.G1357A p.E453K exonic ENSG00000124383.9 . nonsynonymous SNV ENSG00000124383.9:ENST00000244230.7:exon7:c.G1357A:p.E453K 2p13.3 C3L-01031 . . . . . . . . . 13.20 D D D D D D M T D 0.585 T T D 0.229 0.511 0.472 0.606 T T T T D D 4.341 29.900 0.999 D D 0.596 5.879 0.608 6.331 1.000 0.707 0.725 0.725 0.714 . 5.520 5.520 5.738 0.225 -0.165 1.000 0.998 0.979 872 . . . . MPHOSPH10 142 0 143 40 0.218579234972678 TRUE TRUE ENSG00000172318.5 . BCM GRCh38.p13 chr2 167869999 167869999 + C C A Missense_Mutation SNP ENST00000392690.3 exon1 c.C960A p.S320R exonic ENSG00000172318.5 . nonsynonymous SNV ENSG00000172318.5:ENST00000392690.3:exon1:c.C960A:p.S320R 2q24.3 C3L-01031 . . . . . . . . . 4.19 T T P B N D N T N 0.581 T T T 0.091 0.355 0.508 0.636 D T T T D T 1.999 19.250 0.982 D . 0.173 3.186 0.298 3.704 1.000 0.651 0.574 0.651 0.564 . 5.540 4.640 3.756 1.026 0.599 1.000 1.000 0.999 753 . . . . B3GALT1 71 0 117 43 0.26875 TRUE TRUE ENSG00000188738.15 . BCM GRCh38.p13 chr2 185793789 185793789 + G G A Missense_Mutation SNP ENST00000424728.6 exon16 c.G6653A p.R2218K exonic ENSG00000188738.15 . nonsynonymous SNV ENSG00000188738.15:ENST00000424728.6:exon16:c.G6653A:p.R2218K 2q32.1 C3L-01031 . . . . . . . . . 0.16 T T . . . N N T N 0.035 T T T 0.033 . 0.081 . T T T T T T 0.010 1.396 0.588 N . -1.328 0.150 -1.361 0.172 0.956 0.487 0.547 0.574 0.564 . 5.530 -1.400 -0.232 -0.106 -0.124 0.000 0.015 0.342 771 . . . . FSIP2 153 2 235 37 0.136029411764706 TRUE TRUE ENSG00000196950.14 . BCM GRCh38.p13 chr2 195680217 195680217 + - NA A Frame_Shift_Ins NA ENST00000359634.10 exon2 c.176dupA p.Y62Ifs*4 exonic ENSG00000196950.14 . frameshift insertion ENSG00000196950.14:ENST00000359634.10:exon2:c.176dupA:p.Y62Ifs*4 2q32.3 C3L-01031 8.449e-06 0 0 0 0 1.536e-05 0 0 rs771462597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC39A10 NA NA NA NA NA NA NA ENSG00000085982.13 . BCM GRCh38.p13 chr2 233477445 233477445 + G G A Missense_Mutation SNP ENST00000251722.10 exon32 c.C3655T p.R1219W exonic ENSG00000085982.13 . nonsynonymous SNV ENSG00000085982.13:ENST00000251722.10:exon32:c.C3655T:p.R1219W 2q37.1 C3L-01031 6.744e-05 0 0.0002 0 0 6.114e-05 0.0011 6.129e-05 rs200793850 5.20 D D D P N N M T N 0.475 T T T 0.096 . 0.421 0.245 T T T T T D 3.569 24.900 0.998 N N -0.118 2.119 -0.303 1.558 0.999 0.732 0.744 0.571 0.684 . 4.700 2.820 1.474 0.161 0.676 0.289 0.001 0.040 929 . . . . USP40 433 0 1172 77 0.0616493194555644 TRUE NA ENSG00000154743.18 . BCM GRCh38.p13 chr3 12489922 12489922 + G G A Missense_Mutation SNP ENST00000284995.11 exon2 c.G122A p.R41H exonic ENSG00000154743.18 . nonsynonymous SNV ENSG00000154743.18:ENST00000284995.11:exon2:c.G122A:p.R41H 3p25.2 C3L-01031 0.0381 0.1732 0.0414 0.0321 0.0112 0.0146 0.0331 0.0601 rs12495784 0.19 T T B B N P L T N 0.032 T T . 0.050 . . 0.035 T T T T T T 0.249 3.688 0.926 N N -1.499 0.081 -1.506 0.106 1.000 0.732 0.744 0.723 0.728 . 5.700 -1.600 -0.262 -2.786 -1.655 0.002 0.001 0.064 808 . TSEN2 Colon_Transverse;Esophagus_Mucosa;Muscle_Skeletal;Adipose_Visceral_Omentum;Esophagus_Muscularis;Nerve_Tibial . TSEN2 453 0 1015 91 0.0822784810126582 TRUE NA ENSG00000164077.14 . BCM GRCh38.p13 chr3 49929718 49929718 + C C T Missense_Mutation SNP ENST00000296473.7 exon1 c.G169A p.E57K exonic ENSG00000164077.14 . nonsynonymous SNV ENSG00000164077.14:ENST00000296473.7:exon1:c.G169A:p.E57K 3p21.31 C3L-01031 . . . . . . . . . 0.14 T T . . . N . . N 0.085 T T T 0.021 . 0.140 0.092 T . T T T T 1.469 15.540 0.987 N N -1.247 0.196 -1.287 0.218 1.000 0.442 0.522 0.522 0.562 . 5.770 -3.630 -0.454 0.130 -0.176 0.001 0.013 0.027 1 . . . ID=COSV56562816;OCCURENCE=1(skin) MON1A 250 0 789 55 0.0651658767772512 TRUE TRUE ENSG00000164077.14 . BCM GRCh38.p13 chr3 49929856 49929856 + C C T Missense_Mutation SNP ENST00000296473.7 exon1 c.G31A p.E11K exonic ENSG00000164077.14 . nonsynonymous SNV ENSG00000164077.14:ENST00000296473.7:exon1:c.G31A:p.E11K 3p21.31 C3L-01031 . . . . . . . . . 0.14 T T . . . N . . N 0.073 T T T 0.002 0.279 0.148 0.093 T . T T T T 1.038 12.090 0.953 N N -1.357 0.136 -1.438 0.134 1.000 0.035 0.179 0.289 0.003 . 4.790 -5.410 -0.114 -0.784 -0.214 0.000 0.001 0.048 1 . . . . MON1A 275 0 1035 72 0.0650406504065041 TRUE TRUE ENSG00000174564.13 . BCM GRCh38.p13 chr3 136982213 136982213 + C C T Missense_Mutation SNP ENST00000329582.9 exon3 c.C269T p.S90L exonic ENSG00000174564.13 . nonsynonymous SNV ENSG00000174564.13:ENST00000329582.9:exon3:c.C269T:p.S90L 3q22.3 C3L-01031 . . . . . . . . . 2.20 T D B B N N L T N 0.365 T T D 0.132 0.502 0.640 0.228 T T T T T T 2.560 22.600 0.992 N N -0.287 1.645 -0.255 1.659 0.332 0.615 0.588 0.659 0.528 . 4.910 1.910 1.599 1.026 0.549 0.901 0.606 0.452 715 Fibronectin_type_III . . . IL20RB 61 0 148 12 0.075 TRUE TRUE ENSG00000120756.13 . BCM GRCh38.p13 chr3 142711883 142711883 + C C T Missense_Mutation SNP ENST00000457734.7 exon16 c.C1766T p.S589L exonic ENSG00000120756.13 . nonsynonymous SNV ENSG00000120756.13:ENST00000457734.7:exon16:c.C1766T:p.S589L 3q23 C3L-01031 . . . . . . . . . 19.20 D D D D D D H D D 0.960 D D D 0.976 0.772 0.988 0.730 T D D D D D 4.266 29.300 0.999 D D 1.012 14.299 0.944 15.799 1.000 0.706 0.588 0.710 0.621 . 5.700 5.700 7.905 1.026 0.599 1.000 1.000 0.999 554 Calponin_homology_domain . . ID=COSV61833764;OCCURENCE=1(breast) PLS1 183 1 412 60 0.127118644067797 TRUE TRUE ENSG00000109436.8 . BCM GRCh38.p13 chr4 140622680 140622680 + C C T Missense_Mutation SNP ENST00000442267.3 exon21 c.G3316A p.V1106M exonic ENSG00000109436.8 . nonsynonymous SNV ENSG00000109436.8:ENST00000442267.3:exon21:c.G3316A:p.V1106M 4q31.21 C3L-01031 8.584e-06 0 0 0 0 0 0 6.687e-05 rs545624117 0.19 T T B B . N N T N 0.026 T T T 0.029 0.076 0.129 0.491 T T T T T T 0.785 9.243 0.921 N N -0.947 0.463 -0.973 0.523 0.944 0.707 0.634 0.650 0.714 . 5.350 1.120 -0.032 0.130 -0.176 0.002 0.005 0.070 878 . . . ID=COSV71308588;OCCURENCE=1(large_intestine) TBC1D9 95 0 216 94 0.303225806451613 TRUE TRUE ENSG00000169862.19 . BCM GRCh38.p13 chr5 11236707 11236707 + T T C Missense_Mutation SNP ENST00000304623.13 exon10 c.A1745G p.N582S exonic ENSG00000169862.19 . nonsynonymous SNV ENSG00000169862.19:ENST00000304623.13:exon10:c.A1745G:p.N582S 5p15.2 C3L-01031 . . . . . . . . . 10.20 T T D D D D L T D 0.349 T T D 0.379 0.526 0.663 1.202 T T T T D D 3.776 25.700 0.999 D D 0.523 5.222 0.582 6.009 1.000 0.693 0.574 0.659 0.564 . 5.810 5.810 6.167 1.138 0.665 1.000 1.000 0.996 925 . . . . CTNND2 216 0 516 191 0.27015558698727 TRUE NA ENSG00000164309.15 . BCM GRCh38.p13 chr5 79729873 79729873 + G G A Missense_Mutation SNP ENST00000446378.3 exon2 c.G1108A p.E370K exonic ENSG00000164309.15 . nonsynonymous SNV ENSG00000164309.15:ENST00000446378.3:exon2:c.G1108A:p.E370K 5q14.1 C3L-01031 . . . . . . . . . 3.20 D T P B N N L T N 0.141 T T D 0.152 0.200 0.382 0.060 T T T T D T 1.691 16.970 0.995 N N -0.352 1.490 -0.424 1.329 1.000 0.487 0.574 0.574 0.564 . 5.810 4.940 2.543 0.224 0.676 0.988 0.099 0.272 422 . . . ID=COSV104716739;OCCURENCE=1(skin) CMYA5 281 0 722 46 0.0598958333333333 TRUE TRUE ENSG00000277157.2 . BCM GRCh38.p13 chr6 26188958 26188958 + C C A Missense_Mutation SNP ENST00000614247.2 exon1 c.G119T p.R40L exonic ENSG00000277157.2 . nonsynonymous SNV ENSG00000277157.2:ENST00000614247.2:exon1:c.G119T:p.R40L 6p22.2 C3L-01031 . . . . . . . . . 12.12 . D . . D D . . . 0.825 D D D 0.741 . 0.366 . D . D D D . 3.811 25.900 0.997 D D 0.198 3.296 0.185 3.110 1.000 0.025 0.219 0.240 0.250 . 5.320 5.320 5.783 1.026 0.594 1.000 0.313 0.022 675 . . . . H4C4 189 0 507 36 0.0662983425414365 TRUE TRUE ENSG00000273802.2 . BCM GRCh38.p13 chr6 26216434 26216434 + G G C Missense_Mutation SNP ENST00000541790.3 exon1 c.C210G p.I70M exonic ENSG00000273802.2 . nonsynonymous SNV ENSG00000273802.2:ENST00000541790.3:exon1:c.C210G:p.I70M 6p22.2 C3L-01031 . . . . . . . . . 7.15 D T . . . N . T D 0.802 T T T 0.303 . 0.543 . D . D T D D 2.513 22.400 0.993 D N -0.303 1.608 -0.350 1.465 1.000 0.442 0.522 0.522 0.373 . 3.990 1.190 0.884 0.228 -0.113 1.000 0.999 0.596 698 . . . ID=COSV99773400;OCCURENCE=1(cervix) H2BC8 217 0 346 183 0.34593572778828 TRUE TRUE ENSG00000137221.14 . BCM GRCh38.p13 chr6 43505505 43505505 + C C A Missense_Mutation SNP ENST00000372445.9 exon11 c.C1324A p.L442M exonic ENSG00000137221.14 . nonsynonymous SNV ENSG00000137221.14:ENST00000372445.9:exon11:c.C1324A:p.L442M 6p21.1 C3L-01031 . . . . . . . . . 9.19 D T D D D D M . N 0.442 T T T 0.128 0.219 0.216 0.858 T T T T D T 3.272 24.000 0.995 D D 0.472 4.822 0.412 4.442 1.000 0.719 0.702 0.723 0.714 . 5.560 2.580 3.328 0.130 0.599 1.000 0.508 0.874 225 . . . . TJAP1 254 1 670 100 0.12987012987013 TRUE TRUE ENSG00000180113.16 . BCM GRCh38.p13 chr6 46688786 46688786 + G G A Missense_Mutation SNP ENST00000316081.11 exon1 c.G658A p.V220M exonic ENSG00000180113.16 . nonsynonymous SNV ENSG00000180113.16:ENST00000316081.11:exon1:c.G658A:p.V220M 6p12.3 C3L-01031 1.721e-05 0.0002 0 0 0 0 0 0 rs139956934 0.20 T T B B N N N T N 0.025 T T T 0.034 . 0.095 0.029 T T T T T T -1.644 0.001 0.771 N N -1.803 0.023 -1.993 0.014 1.000 0.487 0.574 0.578 0.542 . 5.330 -10.700 -6.398 -0.921 -0.113 0.000 0.002 0.010 505 . . . ID=COSV60173801;OCCURENCE=1(large_intestine) TDRD6 132 0 408 31 0.0706150341685649 TRUE TRUE ENSG00000196313.11 . BCM GRCh38.p13 chr7 72942917 72942917 + C C G Missense_Mutation SNP ENST00000434423.4 exon11 c.C2924G p.A975G exonic ENSG00000196313.11 . nonsynonymous SNV ENSG00000196313.11:ENST00000434423.4:exon11:c.C2924G:p.A975G 7q11.23 C3L-01031 . . . . . . . . . 4.20 D D P B N N L T N 0.231 T T D 0.064 0.164 0.014 . T T T T D T 1.143 13.160 0.968 N N -0.430 1.319 -0.609 1.032 0.002 0.672 0.702 0.723 0.636 . 2.330 2.330 2.583 0.946 0.284 0.011 0.009 0.049 441 . . . . POM121 93 0 256 75 0.226586102719033 NA TRUE ENSG00000091656.19 . BCM GRCh38.p13 chr8 76863417 76863417 + G G A Missense_Mutation SNP ENST00000651372.2 exon11 c.G9703A p.E3235K exonic ENSG00000091656.19 . nonsynonymous SNV ENSG00000091656.19:ENST00000651372.2:exon11:c.G9703A:p.E3235K 8q21.13 C3L-01031 . . . . . . . . . 7.16 D D . . U D . T N 0.372 T T T 0.213 0.461 0.043 0.205 T . T T D D 2.828 23.100 0.996 D D 0.403 4.362 0.477 4.960 1.000 0.638 0.588 0.618 0.668 . 4.710 4.710 9.715 1.176 0.676 1.000 0.072 0.335 795 . . . ID=COSV99261375;OCCURENCE=1(skin) ZFHX4 289 0 601 33 0.0520504731861199 TRUE NA ENSG00000079102.16 . BCM GRCh38.p13 chr8 92017273 92017273 + G G C Missense_Mutation SNP ENST00000613302.4 exon5 c.C179G p.P60R exonic ENSG00000079102.16 . nonsynonymous SNV ENSG00000079102.16:ENST00000613302.4:exon5:c.C179G:p.P60R 8q21.3 C3L-01031 . . . . . . . . . 15.20 D D D D D D M T D 0.741 T T T 0.306 0.441 0.472 1.658 D D D T D D 3.901 26.400 0.999 D D 0.792 8.617 0.823 10.847 1.000 0.732 0.574 0.663 0.728 . 5.660 5.660 8.102 1.172 0.676 1.000 1.000 0.997 531 . . . ID=COSV56158222;OCCURENCE=2(lung) RUNX1T1 193 0 437 24 0.052060737527115 TRUE TRUE ENSG00000122728.6 . BCM GRCh38.p13 chr9 32633707 32633707 + G G T Missense_Mutation SNP ENST00000242310.4 exon1 c.C1873A p.H625N exonic ENSG00000122728.6 . nonsynonymous SNV ENSG00000122728.6:ENST00000242310.4:exon1:c.C1873A:p.H625N 9p21.1 C3L-01031 . . . . . . . . . 10.20 D D D D D D L T D 0.357 T T T 0.263 0.452 0.531 0.582 T T T T D D 2.729 22.900 0.985 D N 0.251 3.537 0.081 2.658 0.959 0.638 0.670 0.659 0.568 . 0.633 0.633 4.836 0.310 0.268 1.000 0.857 0.663 835 Transcription_initiation_factor_TFIID_subunit_1,_domain_of_unknown_function . . . TAF1L 328 0 632 60 0.0867052023121387 NA TRUE ENSG00000165282.14 . BCM GRCh38.p13 chr9 35091822 35091822 + G G A Missense_Mutation SNP ENST00000378617.4 exon7 c.C2065T p.R689C exonic ENSG00000165282.14 . nonsynonymous SNV ENSG00000165282.14:ENST00000378617.4:exon7:c.C2065T:p.R689C 9p13.3 C3L-01031 3.423e-05 0 0 0 0 6.267e-05 0 0 rs775041042 4.20 T D B B N D L T D 0.230 T T T 0.102 0.598 0.601 0.209 T T T T T T 2.014 19.360 0.915 D N -0.605 0.979 -0.533 1.149 0.821 0.732 0.702 0.744 0.636 . 5.440 2.590 2.006 -0.127 -0.104 0.953 0.891 0.738 109 . . . ID=COSV53055142;OCCURENCE=1(large_intestine) PIGO 354 0 917 63 0.0642857142857143 TRUE TRUE ENSG00000196116.8 . BCM GRCh38.p13 chr9 97495824 97495824 + G G A Missense_Mutation SNP ENST00000355295.5 exon17 c.G3238A p.D1080N exonic ENSG00000196116.8 . nonsynonymous SNV ENSG00000196116.8:ENST00000355295.5:exon17:c.G3238A:p.D1080N 9q22.33 C3L-01031 . . . . . . . . rs879227282 14.20 D D D D D D M T D 0.795 T T D 0.356 0.511 0.725 0.662 T D T T D D 4.157 28.300 0.999 D D 0.853 9.909 0.840 11.403 1.000 0.732 0.744 0.618 0.613 . 5.200 5.200 9.516 1.176 0.676 1.000 0.921 0.987 481 . . . . TDRD7 485 1 920 53 0.0544707091469681 TRUE NA ENSG00000136937.13 . BCM GRCh38.p13 chr9 97661011 97661011 + G G A Missense_Mutation SNP ENST00000375147.8 exon16 c.G1543A p.D515N exonic ENSG00000136937.13 . nonsynonymous SNV ENSG00000136937.13:ENST00000375147.8:exon16:c.G1543A:p.D515N 9q22.33 C3L-01031 . . . . . . . . . 9.19 D D B P D D L . D 0.137 T T T 0.176 0.379 0.677 1.133 T T T T D D 3.434 24.500 0.999 D D 0.364 4.130 0.480 4.982 1.000 0.707 0.725 0.725 0.714 . 5.450 5.450 5.924 1.176 0.676 1.000 1.000 1.000 719 MIF4G-like,_type_2 . . . NCBP1 135 0 266 21 0.0731707317073171 TRUE TRUE ENSG00000177354.12 . BCM GRCh38.p13 chr10 49326572 49326572 + G G A Missense_Mutation SNP ENST00000374144.8 exon3 c.G4027A p.V1343M exonic ENSG00000177354.12 . nonsynonymous SNV ENSG00000177354.12:ENST00000374144.8:exon3:c.G4027A:p.V1343M 10q11.23 C3L-01031 . . . . . . . . rs906410500 6.15 D D . . U D . T N 0.148 T T D 0.085 0.172 0.337 0.347 . . T T D T 2.762 22.900 0.999 D N 0.185 3.237 0.220 3.282 1.000 0.487 0.590 0.547 0.564 . 5.360 5.360 3.615 1.176 0.610 1.000 0.193 0.236 894 . . . ID=COSV60510676;OCCURENCE=1(stomach) C10orf71 219 0 629 36 0.0541353383458647 TRUE TRUE ENSG00000170370.12 . BCM GRCh38.p13 chr10 117543443 117543443 + C C G Missense_Mutation SNP ENST00000553456.5 exon1 c.C176G p.A59G exonic ENSG00000170370.12 . nonsynonymous SNV ENSG00000170370.12:ENST00000553456.5:exon1:c.C176G:p.A59G 10q26.11 C3L-01031 . . . . . . . . . 11.20 D T B B D D N D N 0.151 D D D 0.301 0.436 0.851 . T T D T D T 2.458 22.300 0.885 D D 0.021 2.587 0.224 3.306 1.000 0.598 0.590 0.378 0.639 . 5.810 5.810 4.902 1.011 0.569 1.000 0.999 0.953 784 . . . . EMX2 273 0 835 62 0.0691192865105909 TRUE TRUE ENSG00000110427.16 . BCM GRCh38.p13 chr11 33542848 33542848 + A A T Missense_Mutation SNP ENST00000321505.9 exon1 c.A394T p.I132L exonic ENSG00000110427.16 . nonsynonymous SNV ENSG00000110427.16:ENST00000321505.9:exon1:c.A394T:p.I132L 11p13 C3L-01031 . . . . . . . . . 0.18 T T B B . N N . N 0.080 T T T 0.009 0.213 0.061 0.170 T T T T T T 0.665 8.134 0.769 N N -1.513 0.077 -1.504 0.106 1.000 0.744 0.588 0.659 0.584 . 4.830 -2.280 -0.484 -0.943 -0.875 0.000 0.846 0.211 683 . . . . KIAA1549L 109 0 236 98 0.293413173652695 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01031 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 315 0 581 280 0.32520325203252 TRUE TRUE ENSG00000118600.12 . BCM GRCh38.p13 chr12 63781145 63781145 + G G A Missense_Mutation SNP ENST00000261234.11 exon2 c.G296A p.S99N exonic ENSG00000118600.12 . nonsynonymous SNV ENSG00000118600.12:ENST00000261234.11:exon2:c.G296A:p.S99N 12q14.2 C3L-01031 . . . . . . . . . 0.19 T T B B N N . T N 0.087 T T T 0.026 0.280 0.085 0.153 T T T T T T -0.450 0.151 0.753 N N -1.339 0.144 -1.406 0.149 1.000 0.543 0.686 0.731 0.639 . 4.340 -3.420 -0.452 -2.199 -0.182 0.000 0.025 0.825 921 . . . . RXYLT1 123 0 188 13 0.0646766169154229 TRUE TRUE ENSG00000136051.15 . BCM GRCh38.p13 chr12 105164713 105164713 + G G C Missense_Mutation SNP ENST00000332180.10 exon32 c.G3427C p.E1143Q exonic ENSG00000136051.15 . nonsynonymous SNV ENSG00000136051.15:ENST00000332180.10:exon32:c.G3427C:p.E1143Q 12q23.3 C3L-01031 . . . . . . . . . 10.19 D D D D D D . T N 0.517 T T T 0.309 0.153 0.757 0.706 T T T T D D 4.512 32 0.998 D D 0.967 12.904 0.975 17.361 1.000 0.719 0.725 0.725 0.734 . 6.170 6.170 9.918 1.176 0.676 1.000 1.000 0.992 682 . . . . WASHC4 293 1 658 37 0.0532374100719424 TRUE NA ENSG00000089169.15 . BCM GRCh38.p13 chr12 112890045 112890045 + G G A Missense_Mutation SNP ENST00000389385.9 exon18 c.G1585A p.G529R exonic ENSG00000089169.15 . nonsynonymous SNV ENSG00000089169.15:ENST00000389385.9:exon18:c.G1585A:p.G529R 12q24.13 C3L-01031 1.648e-05 0 8.637e-05 0 0 1.499e-05 0 0 rs756037748 12.20 D D P B D D L T D 0.840 T T D 0.379 0.518 0.692 0.357 T T D D D D 2.954 23.300 0.994 D D 0.192 3.267 0.172 3.048 1.000 0.598 0.578 0.578 0.639 . 5.290 5.290 6.146 1.176 0.676 1.000 0.627 0.152 88 . . . ID=COSV66990225;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) RPH3A 161 0 447 126 0.219895287958115 TRUE TRUE ENSG00000187498.16 . BCM GRCh38.p13 chr13 110176428 110176428 + C C A Missense_Mutation SNP ENST00000375820.10 exon36 c.G3054T p.L1018F exonic ENSG00000187498.16 . nonsynonymous SNV ENSG00000187498.16:ENST00000375820.10:exon36:c.G3054T:p.L1018F 13q34 C3L-01031 . . . . . . . . . 12.20 D T D D N D L D N 0.346 D D D 0.400 0.373 0.600 1.245 T D T T D D 2.371 22.000 0.998 D N 0.179 3.212 0.150 2.951 0.988 0.732 0.590 0.744 0.711 . 5.420 2.780 0.627 0.125 0.599 0.999 0.993 0.979 994 . . . . COL4A1 475 1 1255 376 0.230533415082771 TRUE TRUE ENSG00000151812.15 . BCM GRCh38.p13 chr14 57589457 57589457 + C C T Missense_Mutation SNP ENST00000339762.10 exon3 c.G454A p.A152T exonic ENSG00000151812.15 . nonsynonymous SNV ENSG00000151812.15:ENST00000339762.10:exon3:c.G454A:p.A152T 14q22.3 C3L-01031 . . . . . . . . . 2.20 T T B B N D N T N 0.071 T T T 0.070 0.277 0.361 0.041 T T T T T T 1.591 16.320 0.970 D N -0.493 1.190 -0.254 1.661 0.000 0.487 0.574 0.574 0.564 . 6.060 4.040 2.195 0.065 -0.187 1.000 0.995 0.975 863 . . . ID=COSV100333696;OCCURENCE=3(central_nervous_system) SLC35F4 160 0 298 30 0.0914634146341463 TRUE TRUE ENSG00000036530.9 . BCM GRCh38.p13 chr14 99707601 99707601 + G G T Missense_Mutation SNP ENST00000261835.8 exon7 c.G616T p.G206C exonic ENSG00000036530.9 . nonsynonymous SNV ENSG00000036530.9:ENST00000261835.8:exon7:c.G616T:p.G206C 14q32.2 C3L-01031 . . . . . . . . . 11.20 D D P P N D M D D 0.357 T T D 0.269 0.592 0.715 1.725 T D T T D T 4.008 27.000 0.997 D D 0.221 3.395 0.293 3.678 0.882 0.554 0.574 0.602 0.542 . 4.480 4.480 3.563 1.176 0.676 1.000 1.000 1.000 941 . . . . CYP46A1 165 0 299 172 0.365180467091295 TRUE TRUE ENSG00000104044.16 . BCM GRCh38.p13 chr15 27871239 27871239 + C C T Missense_Mutation SNP ENST00000354638.8 exon21 c.G2159A p.R720H exonic ENSG00000104044.16 . nonsynonymous SNV ENSG00000104044.16:ENST00000354638.8:exon21:c.G2159A:p.R720H 15q13.1 C3L-01031 8.308e-06 0 0 0 0 0 0 6.071e-05 rs776631782 18.20 D D D D D D L D D 0.874 D D D 0.806 0.851 0.988 0.534 T D D D D D 4.060 27.400 0.999 D D 0.650 6.472 0.598 6.203 1.000 0.554 0.574 0.602 0.564 . 5.420 5.420 7.194 1.026 0.599 1.000 0.448 0.168 976 Citrate_transporter-like_domain . . ID=COSV62343363;OCCURENCE=1(pancreas) OCA2 469 0 1153 106 0.0841938046068308 TRUE TRUE ENSG00000159433.12 . BCM GRCh38.p13 chr15 42688227 42688227 + G G C Missense_Mutation SNP ENST00000290607.12 exon23 c.G6649C p.E2217Q exonic ENSG00000159433.12 . nonsynonymous SNV ENSG00000159433.12:ENST00000290607.12:exon23:c.G6649C:p.E2217Q 15q15.2 C3L-01031 . . . . . . . . . 1.16 T . . . . N L T N 0.087 T T D 0.054 0.164 0.151 . T T T T T T 0.780 9.199 0.989 N N -0.625 0.944 -0.755 0.821 0.996 0.557 0.546 0.659 0.297 . 5.300 0.646 0.055 0.222 0.676 0.002 0.001 0.038 91 . . . ID=COSV51898800;OCCURENCE=3(oesophagus) STARD9 219 0 432 33 0.0709677419354839 TRUE TRUE ENSG00000074803.20 . BCM GRCh38.p13 chr15 48244864 48244864 + G G A Missense_Mutation SNP ENST00000380993.8 exon11 c.G1412A p.R471Q exonic ENSG00000074803.20 . nonsynonymous SNV ENSG00000074803.20:ENST00000380993.8:exon11:c.G1412A:p.R471Q 15q21.1 C3L-01031 . . . . . . . . rs369307402 2.20 T T B B N N N D N 0.200 T T D 0.255 . 0.524 0.163 T T T T T T 0.568 7.200 0.636 N N -1.611 0.053 -1.628 0.068 1.000 0.487 0.590 0.547 0.564 . 5.580 -7.250 0.036 -0.482 -0.642 0.000 0.961 0.843 727 Amino_acid_permease/_SLC12A_domain . . ID=COSV101119520;OCCURENCE=1(large_intestine) SLC12A1 251 0 553 52 0.0859504132231405 TRUE NA ENSG00000138600.10 . BCM GRCh38.p13 chr15 50726350 50726350 + C C T Missense_Mutation SNP ENST00000261854.10 exon11 c.G1117A p.A373T exonic ENSG00000138600.10 . nonsynonymous SNV ENSG00000138600.10:ENST00000261854.10:exon11:c.G1117A:p.A373T 15q21.2 C3L-01031 2.489e-05 0 0 0 0 1.511e-05 0 0.0001 rs550930877 15.20 D D D D D D H T D 0.921 T T D 0.472 0.849 0.641 0.592 T T D D D D 4.001 27.000 0.999 D D 0.847 9.774 0.830 11.080 1.000 0.732 0.725 0.710 0.728 . 5.830 5.830 6.396 1.026 0.549 1.000 1.000 0.992 344 . . . ID=COSV55942276;OCCURENCE=1(oesophagus) SPPL2A 228 0 385 25 0.0609756097560976 TRUE TRUE ENSG00000140955.11 . BCM GRCh38.p13 chr16 84196670 84196670 + G G C Missense_Mutation SNP ENST00000315906.10 exon9 c.G1550C p.R517P exonic ENSG00000140955.11 . nonsynonymous SNV ENSG00000140955.11:ENST00000315906.10:exon9:c.G1550C:p.R517P 16q24.1 C3L-01031 . . . . . . . . . 18.20 D D D D D D H D D 0.874 D D D 0.911 0.841 0.956 . T D D D D T 4.346 29.900 0.996 D D 0.667 6.677 0.568 5.841 1.000 0.581 0.627 0.576 0.563 . 5.270 4.250 1.369 1.176 0.618 1.000 0.828 0.910 759 Adenosine_deaminase/editase . . . ADAD2 117 0 321 118 0.26879271070615 TRUE TRUE ENSG00000181291.8 . BCM GRCh38.p13 chr17 34637708 34637708 + G G A Missense_Mutation SNP ENST00000631683.2 exon9 c.G2701A p.A901T exonic ENSG00000181291.8 . nonsynonymous SNV ENSG00000181291.8:ENST00000631683.2:exon9:c.G2701A:p.A901T 17q12 C3L-01031 . . . . . . . . . 16.20 D D D D D D M T D 0.832 T T D 0.600 0.559 0.313 1.345 D T D D D D 4.476 32 0.999 D D 0.869 10.272 0.798 10.067 1.000 0.765 0.563 0.732 0.530 . 4.500 4.500 9.993 1.175 0.606 1.000 0.997 0.987 970 Transmembrane_protein_TMEM132,_C-terminal . . ID=COSV58698849;OCCURENCE=1(prostate) TMEM132E 176 2 593 56 0.086286594761171 TRUE TRUE ENSG00000141449.14 . BCM GRCh38.p13 chr18 21401201 21401201 + C C T Missense_Mutation SNP ENST00000580732.6 exon6 c.C584T p.T195M exonic ENSG00000141449.14 . nonsynonymous SNV ENSG00000141449.14:ENST00000580732.6:exon6:c.C584T:p.T195M 18q11.1 C3L-01031 . . . . . . . . . 13.19 D D D D . D L T D 0.876 T T T 0.617 0.566 0.451 . D T D D D D 3.794 25.800 0.997 D D 0.898 11.001 0.883 13.038 1.000 0.625 0.574 0.590 0.595 . 5.800 5.800 7.905 1.026 0.599 1.000 1.000 0.994 424 . . . . GREB1L 246 0 724 112 0.133971291866029 TRUE NA ENSG00000130377.13 . BCM GRCh38.p13 chr19 6141545 6141545 + T T C Translation_Start_Site SNP ENST00000586696.5 exon2 c.T2C p.M1? exonic ENSG00000130377.13 . startloss ENSG00000130377.13:ENST00000586696.5:exon2:c.T2C:p.M1? 19p13.3 C3L-01031 . . . . . . . . . 2.15 . D B B . N . T . 0.277 T T T 0.084 0.982 0.095 . . T T T T D 0.115 2.227 0.576 N N -1.163 0.255 -1.254 0.241 0.000 0.487 0.574 0.574 0.542 . 4.240 -1.880 -0.665 -0.601 -0.203 0.000 0.003 0.005 917 . . . . ACSBG2 195 0 323 83 0.204433497536946 TRUE TRUE ENSG00000167772.12 . BCM GRCh38.p13 chr19 8366293 8366293 + C C T Missense_Mutation SNP ENST00000301455.7 exon3 c.C521T p.P174L exonic ENSG00000167772.12 . nonsynonymous SNV ENSG00000167772.12:ENST00000301455.7:exon3:c.C521T:p.P174L 19p13.2 C3L-01031 0.0003 0 0.0003 0.0001 0 4.524e-05 0.0011 0.0014 rs533599788 0.20 T T B B N N L T N 0.217 T T T 0.021 . 0.499 0.198 T T T T T T -0.528 0.104 0.439 N N -1.316 0.156 -1.321 0.195 1.000 0.677 0.590 0.673 0.655 . 4.190 0.861 -0.450 -3.802 -1.690 0.000 0.000 0.001 856 . . . ID=COSV56845072;OCCURENCE=1(large_intestine) ANGPTL4 412 0 1017 240 0.190930787589499 TRUE TRUE ENSG00000181143.15 . BCM GRCh38.p13 chr19 8948250 8948250 + G G A Missense_Mutation SNP ENST00000397910.8 exon3 c.C28520T p.T9507M exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.C28520T:p.T9507M 19p13.2 C3L-01031 3.314e-05 0.0001 0 0 0 4.498e-05 0 0 rs370765065 3.15 D D . . . N . T D 0.042 T T T 0.040 . 0.153 . T . T T T T -0.083 0.898 0.253 N N -1.428 0.106 -1.493 0.110 0.001 0.487 0.574 0.574 0.564 . 2.290 -1.470 -0.072 -1.428 -1.579 0.000 0.000 0.001 917 . . . ID=COSV67449619;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue),1(endometrium) MUC16 173 0 322 24 0.069364161849711 TRUE TRUE ENSG00000104998.4 . BCM GRCh38.p13 chr19 14046195 14046195 + C C G Missense_Mutation SNP ENST00000263379.4 exon7 c.C810G p.F270L exonic ENSG00000104998.4 . nonsynonymous SNV ENSG00000104998.4:ENST00000263379.4:exon7:c.C810G:p.F270L 19p13.12 C3L-01031 . . . . . . . . . 1.20 T T B B N N L T N 0.506 T T D 0.058 0.489 0.285 0.209 T T T T T T 0.983 11.410 0.748 N N -1.050 0.353 -1.072 0.405 0.003 0.617 0.698 0.786 0.655 . 4.520 0.435 1.381 -0.772 -0.186 0.007 0.001 0.012 824 . . . . IL27RA 182 0 400 23 0.0543735224586288 TRUE TRUE ENSG00000039650.12 . BCM GRCh38.p13 chr19 49861678 49861678 + C C G Missense_Mutation SNP ENST00000322344.8 exon15 c.G1316C p.R439P exonic ENSG00000039650.12 . nonsynonymous SNV ENSG00000039650.12:ENST00000322344.8:exon15:c.G1316C:p.R439P 19q13.33 C3L-01031 . . . . . . . . . 5.20 D D P B N N L T N 0.528 T T D 0.222 0.530 0.670 0.473 T T T T D D 1.363 14.830 0.981 N N -0.535 1.108 -0.759 0.815 1.000 0.672 0.702 0.644 0.636 . 4.090 -0.918 -0.387 -0.667 0.593 0.000 0.000 0.001 594 . . . . PNKP 178 0 654 38 0.0549132947976879 TRUE TRUE ENSG00000167755.15 . BCM GRCh38.p13 chr19 50967223 50967223 + C C A Missense_Mutation SNP ENST00000310157.7 exon4 c.G143T p.G48V exonic ENSG00000167755.15 . nonsynonymous SNV ENSG00000167755.15:ENST00000310157.7:exon4:c.G143T:p.G48V 19q13.41 C3L-01031 . . . . . . . . . 18.20 D D D D N D H D D 0.664 D D D 0.821 0.934 0.985 0.916 T D D D D D 3.008 23.400 0.997 D D 0.632 6.266 0.438 4.642 0.967 0.615 0.563 0.659 0.605 . 4.310 4.310 3.611 1.022 0.596 0.751 0.028 0.125 912 Serine_proteases,_trypsin_domain . . ID=COSV59565217;OCCURENCE=1(lung) KLK6 233 0 714 55 0.0715214564369311 TRUE TRUE ENSG00000142156.15 . BCM GRCh38.p13 chr21 46001357 46001357 + G G A Missense_Mutation SNP ENST00000361866.8 exon30 c.G1927A p.D643N exonic ENSG00000142156.15 . nonsynonymous SNV ENSG00000142156.15:ENST00000361866.8:exon30:c.G1927A:p.D643N 21q22.3 C3L-01031 . . . . . . . . rs369365801 6.20 T T D P D D L T N 0.453 T T D 0.441 0.707 0.834 0.823 T T T T D T 3.242 24.000 0.986 N D 0.241 3.492 0.243 3.401 1.000 0.718 0.588 0.571 0.563 . 5.200 5.200 4.723 1.094 0.660 1.000 0.825 0.466 976 von_Willebrand_factor,_type_A . . ID=COSV62613550;OCCURENCE=1(pancreas) COL6A1 235 0 636 49 0.0715328467153285 TRUE TRUE ENSG00000138944.8 . BCM GRCh38.p13 chr22 44285547 44285547 + C C A Missense_Mutation SNP ENST00000381176.5 exon4 c.G480T p.Q160H exonic ENSG00000138944.8 . nonsynonymous SNV ENSG00000138944.8:ENST00000381176.5:exon4:c.G480T:p.Q160H 22q13.31 C3L-01031 . . . . . . . . . 2.17 T T P P N . . . N 0.303 T T T 0.067 0.175 0.281 0.519 T T T T D T 2.949 23.300 0.994 D N -0.026 2.419 -0.016 2.304 1.000 0.581 0.590 0.576 0.563 . 4.240 4.240 3.736 0.933 0.505 1.000 0.187 0.039 883 . . . . SHISAL1 114 1 174 10 0.0543478260869565 NA TRUE ENSG00000101871.15 . BCM GRCh38.p13 chrX 10567013 10567013 + C C T Missense_Mutation SNP ENST00000317552.9 exon2 c.G535A p.E179K exonic ENSG00000101871.15 . nonsynonymous SNV ENSG00000101871.15:ENST00000317552.9:exon2:c.G535A:p.E179K Xp22.2 C3L-01031 . . . . . . . . . 7.19 T T P P D D L T N 0.691 T T D 0.112 0.506 0.561 1.483 D T T T D D 2.426 22.200 0.997 D . . . . . 1.000 . . . . . 5.640 5.640 6.023 1.026 0.599 1.000 1.000 0.982 603 B-box-type_zinc_finger . . . MID1 527 0 1257 76 0.0570142535633908 TRUE TRUE ENSG00000169297.8 . BCM GRCh38.p13 chrX 30308645 30308645 + G G A Missense_Mutation SNP ENST00000378970.5 exon1 c.C719T p.S240F exonic ENSG00000169297.8 . nonsynonymous SNV ENSG00000169297.8:ENST00000378970.5:exon1:c.C719T:p.S240F Xp21.2 C3L-01031 . . . . . . . . . 5.19 T D P B N N L D N 0.155 D D D 0.401 0.447 0.632 0.830 T T T T T T 0.527 6.781 0.992 N . . . . . 1.000 . . . . . 3.980 2.070 -0.011 -0.973 -0.954 0.024 0.000 0.001 832 Nuclear_hormone_receptor,_ligand-binding_domain . . . NR0B1 198 0 667 43 0.0605633802816901 TRUE NA ENSG00000147118.12 . BCM GRCh38.p13 chrX 47977579 47977579 + T T C Missense_Mutation SNP ENST00000396965.5 exon7 c.A508G p.N170D exonic ENSG00000147118.12 . nonsynonymous SNV ENSG00000147118.12:ENST00000396965.5:exon7:c.A508G:p.N170D Xp11.23 C3L-01031 . . . . . . . . . 1.18 T T B B . N M T N 0.266 T T T 0.058 0.254 0.435 0.522 T T T T T T 1.455 15.440 0.989 N . . . . . 0.009 . . . . . 3.730 3.730 2.531 1.138 0.665 0.898 0.995 0.994 595 . . . . ZNF182 135 0 206 11 0.0506912442396313 TRUE TRUE ENSG00000147255.19 . BCM GRCh38.p13 chrX 131277943 131277943 + C C T Missense_Mutation SNP ENST00000361420.8 exon13 c.G2233A p.E745K exonic ENSG00000147255.19 . nonsynonymous SNV ENSG00000147255.19:ENST00000361420.8:exon13:c.G2233A:p.E745K Xq26.1 C3L-01031 2.279e-05 0 0 0 0 2.084e-05 0 9.881e-05 rs778830663 3.19 D T P B N N L T N 0.187 T T D 0.056 0.424 0.151 0.395 T T T T T D 1.247 14.000 0.972 N . . . . . 0.999 . . . . . 4.880 -0.898 -0.743 1.026 0.599 0.000 0.995 0.998 61 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV100812485;OCCURENCE=1(cervix) IGSF1 262 0 618 62 0.0911764705882353 TRUE NA ENSG00000212747.5 . BCM GRCh38.p13 chrX 135022248 135022248 + C C T Missense_Mutation SNP ENST00000391440.3 exon1 c.G212A p.R71H exonic ENSG00000212747.5 . nonsynonymous SNV ENSG00000212747.5:ENST00000391440.3:exon1:c.G212A:p.R71H Xq26.3 C3L-01031 . . . . . . . . . 6.18 D T D D U N . T N 0.274 T T D 0.204 0.555 0.682 1.374 T T T T D D 3.762 25.700 0.999 N . . . . . 1.000 . . . . . 2.350 2.350 1.841 0.845 0.530 1.000 1.000 0.999 484 Domain_of_unknown_function_DUF4939 . . ID=COSV66954595;OCCURENCE=1(large_intestine) RTL8B 179 0 549 35 0.0599315068493151 NA TRUE ENSG00000067842.17 . BCM GRCh38.p13 chrX 153541512 153541512 + C C G Missense_Mutation SNP ENST00000263519.4 exon2 c.C362G p.S121C exonic ENSG00000067842.17 . nonsynonymous SNV ENSG00000067842.17:ENST00000263519.4:exon2:c.C362G:p.S121C Xq28 C3L-01031 . . . . . . . . . 19.19 D D D D D D H D D 0.814 D D D 0.896 0.716 0.960 1.526 D D D D D D 3.446 24.500 0.991 D . . . . . 1.000 . . . . . 5.690 5.690 7.902 1.022 0.596 1.000 0.989 0.905 109 Cation-transporting_P-type_ATPase,_N-terminal . . . ATP2B3 298 0 972 57 0.0553935860058309 TRUE TRUE ENSG00000162402.14 . BCM GRCh38.p13 chr1 55157255 55157255 + C C G Splice_Site SNP NA NA NA NA splicing ENSG00000162402.14 ENST00000294383.7:exon11:c.1342+1G>C . . 1p32.3 C3L-01031 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.483 34 0.995 D . 1.126 18.735 0.982 17.802 1.000 0.322 0.319 0.121 0.110 0.982 5.930 5.930 7.568 1.026 0.549 1.000 1.000 0.990 878 . . . . USP24 224 0 335 77 0.186893203883495 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675237 7675237 + C C T Splice_Site SNP NA NA NA NA splicing ENSG00000141510.17 ENST00000269305.8:exon5:c.376-1G>A . . 17p13.1 C3L-01031 . . . . . . . . rs868137297 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.764 34 0.992 D . 1.034 15.036 0.849 11.733 1.000 0.284 0.272 0.299 0.344 0.828 4.870 3.900 7.742 1.026 0.599 1.000 0.929 0.884 434 . . . ID=COSV52688618;OCCURENCE=14(breast),7(liver),6(oesophagus),10(large_intestine),5(central_nervous_system),1(biliary_tract),1(fallopian_tube),5(ovary),1(NS),6(haematopoietic_and_lymphoid_tissue),4(stomach),2(soft_tissue),1(urinary_tract),8(pancreas),1(skin),2(prostate),2(lung),4(upper_aerodigestive_tract) TP53 301 0 418 197 0.320325203252033 TRUE TRUE ENSG00000157881.16 . BCM GRCh38.p13 chr1 2518194 2518194 + G G A Silent SNP ENST00000378466.9 exon9 c.C1188T p.L396L exonic ENSG00000157881.16 . synonymous SNV ENSG00000157881.16:ENST00000378466.9:exon9:c.C1188T:p.L396L 1p36.32 C3L-01031 0.0014 0 0.0003 0 0 1.564e-05 0.0023 0.0097 rs201136616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PANK4 140 1 420 32 0.0707964601769911 TRUE NA ENSG00000204262.14 . BCM GRCh38.p13 chr2 189039285 189039285 + G G A Silent SNP ENST00000374866.9 exon51 c.C3912T p.S1304S exonic ENSG00000204262.14 . synonymous SNV ENSG00000204262.14:ENST00000374866.9:exon51:c.C3912T:p.S1304S 2q32.2 C3L-01031 1.648e-05 0 0 0 0 2.998e-05 0 0 rs571598585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL5A2 452 1 949 165 0.148114901256732 TRUE NA ENSG00000112992.18 . BCM GRCh38.p13 chr5 43649151 43649151 + C C G Silent SNP ENST00000344920.9 exon11 c.C1449G p.L483L exonic ENSG00000112992.18 . synonymous SNV ENSG00000112992.18:ENST00000344920.9:exon11:c.C1449G:p.L483L 5p12 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NNT 128 0 323 18 0.0527859237536657 TRUE TRUE ENSG00000158458.21 . BCM GRCh38.p13 chr5 139848067 139848067 + C C T Silent SNP ENST00000361474.6 exon10 c.G2403A p.A801A exonic ENSG00000158458.21 . synonymous SNV ENSG00000158458.21:ENST00000361474.6:exon10:c.G2403A:p.A801A 5q31.2 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NRG2 317 0 959 411 0.3 TRUE TRUE ENSG00000096088.16 . BCM GRCh38.p13 chr6 41742322 41742322 + G G A Silent SNP ENST00000373025.7 exon5 c.C615T p.L205L exonic ENSG00000096088.16 . synonymous SNV ENSG00000096088.16:ENST00000373025.7:exon5:c.C615T:p.L205L 6p21.1 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PGC 213 0 736 40 0.0515463917525773 TRUE TRUE ENSG00000096088.16 . BCM GRCh38.p13 chr6 41742400 41742400 + G G A Silent SNP ENST00000373025.7 exon5 c.C537T p.I179I exonic ENSG00000096088.16 . synonymous SNV ENSG00000096088.16:ENST00000373025.7:exon5:c.C537T:p.I179I 6p21.1 C3L-01031 . . . . . . . . rs879101322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PGC 394 0 1125 70 0.0585774058577406 TRUE NA ENSG00000167632.17 . BCM GRCh38.p13 chr8 140275803 140275803 + T T C Silent SNP ENST00000438773.4 exon15 c.A2133G p.Q711Q exonic ENSG00000167632.17 . synonymous SNV ENSG00000167632.17:ENST00000438773.4:exon15:c.A2133G:p.Q711Q 8q24.3 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAPPC9 322 0 612 44 0.0670731707317073 TRUE NA ENSG00000187783.12 . BCM GRCh38.p13 chr10 44935008 44935008 + C C T Silent SNP ENST00000544540.5 exon4 c.C348T p.S116S exonic ENSG00000187783.12 . synonymous SNV ENSG00000187783.12:ENST00000544540.5:exon4:c.C348T:p.S116S 10q11.21 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101273622;OCCURENCE=1(skin) TMEM72 188 0 398 87 0.179381443298969 TRUE TRUE ENSG00000132535.21 . BCM GRCh38.p13 chr17 7192990 7192990 + G G A Silent SNP ENST00000399506.9 exon17 c.C1821T p.H607H exonic ENSG00000132535.21 . synonymous SNV ENSG00000132535.21:ENST00000399506.9:exon17:c.C1821T:p.H607H 17p13.1 C3L-01031 . . . . . . . . rs1006147091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DLG4 202 0 470 31 0.06187624750499 TRUE NA ENSG00000180336.18 . BCM GRCh38.p13 chr17 44667114 44667114 + G G A Silent SNP ENST00000409122.7 exon5 c.G1203A p.L401L exonic ENSG00000180336.18 . synonymous SNV ENSG00000180336.18:ENST00000409122.7:exon5:c.G1203A:p.L401L 17q21.31 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MEIOC 199 1 332 24 0.0674157303370786 TRUE TRUE ENSG00000141384.13 . BCM GRCh38.p13 chr18 26227209 26227209 + G G A Silent SNP ENST00000269142.10 exon1 c.G276A p.Q92Q exonic ENSG00000141384.13 . synonymous SNV ENSG00000141384.13:ENST00000269142.10:exon1:c.G276A:p.Q92Q 18q11.2 C3L-01031 8.29e-06 0 0 0 0 1.501e-05 0 0 rs780195768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAF4B 443 0 983 78 0.0735155513666352 TRUE NA ENSG00000130702.15 . BCM GRCh38.p13 chr20 62333666 62333666 + C C T Silent SNP ENST00000252999.7 exon24 c.G2919A p.T973T exonic ENSG00000130702.15 . synonymous SNV ENSG00000130702.15:ENST00000252999.7:exon24:c.G2919A:p.T973T 20q13.33 C3L-01031 0.0006 0.0044 0 0 0 0.0001 0 0.0003 rs147701856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LAMA5 93 0 362 173 0.323364485981308 TRUE NA ENSG00000101210.12 . BCM GRCh38.p13 chr20 63495871 63495871 + G G T Silent SNP ENST00000217182.6 exon3 c.C309A p.I103I exonic ENSG00000101210.12 . synonymous SNV ENSG00000101210.12:ENST00000217182.6:exon3:c.C309A:p.I103I 20q13.33 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EEF1A2 132 0 409 129 0.239776951672862 TRUE TRUE ENSG00000196132.14 . BCM GRCh38.p13 chr20 64232356 64232356 + C C T Silent SNP ENST00000328439.6 exon19 c.C2868T p.H956H exonic ENSG00000196132.14 . synonymous SNV ENSG00000196132.14:ENST00000328439.6:exon19:c.C2868T:p.H956H 20q13.33 C3L-01031 0.0002 0.0009 0 0 0 0.0001 0 0 rs144371248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYT1 224 0 852 294 0.256544502617801 TRUE NA ENSG00000101871.15 . BCM GRCh38.p13 chrX 10567227 10567227 + G G A Silent SNP ENST00000317552.9 exon2 c.C321T p.D107D exonic ENSG00000101871.15 . synonymous SNV ENSG00000101871.15:ENST00000317552.9:exon2:c.C321T:p.D107D Xp22.2 C3L-01031 1.15e-05 0 0 0 0 2.091e-05 0 0 rs754833237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100452340;OCCURENCE=1(stomach) MID1 139 0 298 68 0.185792349726776 TRUE NA ENSG00000175556.17 . BCM GRCh38.p13 chrX 118974819 118974819 + C C A Silent SNP ENST00000371628.8 exon1 c.C39A p.P13P exonic ENSG00000175556.17 . synonymous SNV ENSG00000175556.17:ENST00000371628.8:exon1:c.C39A:p.P13P Xq24 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LONRF3 142 0 642 39 0.0572687224669604 TRUE NA ENSG00000155966.14 . BCM GRCh38.p13 chrX 148662459 148662459 + C C T Silent SNP ENST00000370460.7 exon3 c.C732T p.F244F exonic ENSG00000155966.14 . synonymous SNV ENSG00000155966.14:ENST00000370460.7:exon3:c.C732T:p.F244F Xq28 C3L-01031 6.839e-05 0.0001 0 0.0002 0 0 0 0.0004 rs370542676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60671578;OCCURENCE=1(breast),1(oesophagus),1(large_intestine),1(endometrium) AFF2 279 0 619 38 0.0578386605783866 TRUE TRUE ENSG00000232818.2 . BCM GRCh38.p13 chr7 23490630 23490630 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000232818.2 . . . 7p15.3 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPS2P32 196 0 664 40 0.0568181818181818 TRUE NA ENSG00000255109.6 . BCM GRCh38.p13 chr11 42241099 42241099 + C C A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000255109.6 . . . 11p12 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02740 294 0 536 86 0.138263665594855 TRUE NA ENSG00000156030.13 . BCM GRCh38.p13 chr14 73718964 73718964 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000156030.13 ENST00000286523.9:c.*337A>G . . 14q24.3 C3L-01031 . . . . . . . . . 3.3 . . . . . D . . . . . . . . . . . . . . . . D 2.132 20.400 0.916 D . . . . . 1.000 0.257 0.272 0.064 0.221 0.976 5.620 5.620 7.586 1.138 0.663 1.000 0.994 0.990 443 Zinc_finger_C2H2-type . . . MIDEAS 61 0 153 67 0.304545454545455 TRUE TRUE ENSG00000179094.16 . BCM GRCh38.p13 chr17 8144661 8144661 + G G A Intron SNP NA NA NA NA intronic ENSG00000179094.16 . . . 17p13.1 C3L-01031 . . . . . . . . . 4.14 D T . . . D . T N 0.070 T T D 0.077 0.183 0.103 . . . T T D T 0.694 8.404 0.980 N N -0.561 1.060 -0.582 1.073 0.999 0.421 0.553 0.537 0.509 . 3.700 3.700 0.575 0.154 0.676 0.002 0.069 0.107 303 . . . . PER1 80 0 231 19 0.076 TRUE TRUE ENSG00000131042.14 . BCM GRCh38.p13 chr19 54276646 54276646 + A A G Intron SNP NA NA NA NA intronic ENSG00000131042.14 . . . 19q13.42 C3L-01031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LILRB2 25 0 45 21 0.318181818181818 TRUE NA ENSG00000134253.10 . BCM GRCh38.p13 chr1 117121008 117121008 + C C T Missense_Mutation SNP ENST00000256649.9 exon1 c.G194A p.R65Q exonic ENSG00000134253.10 . nonsynonymous SNV ENSG00000134253.10:ENST00000256649.9:exon1:c.G194A:p.R65Q 1p13.1 C3N-01167 . . . . . . . . . 6.19 T D P B N D M D N 0.077 T T D 0.183 0.449 0.858 0.278 T T T T D T 2.567 22.600 0.998 N . -0.356 1.481 -0.309 1.545 1.000 0.628 0.406 0.672 0.375 . 4.910 3.990 1.936 1.022 0.596 0.433 0.925 0.589 778 Zinc_finger,_RING-type . . ID=COSV56714109;OCCURENCE=1(urinary_tract),1(lung) TRIM45 259 0 805 74 0.0841865756541524 TRUE TRUE ENSG00000163060.8 . BCM GRCh38.p13 chr2 94871584 94871584 + C C A Missense_Mutation SNP ENST00000295201.5 exon1 c.C5A p.A2E exonic ENSG00000163060.8 . nonsynonymous SNV ENSG00000163060.8:ENST00000295201.5:exon1:c.C5A:p.A2E 2q11.1 C3N-01167 . . . . . . . . . 3.20 T D D D U N N T N 0.195 T T T 0.102 0.352 0.122 0.046 T T T T T T 1.451 15.420 0.959 N N -0.506 1.164 -0.738 0.845 0.922 0.403 0.547 0.578 0.563 . 0.566 0.566 0.708 0.381 0.310 0.003 0.029 0.039 . . . . . TEKT4 52 0 179 48 0.211453744493392 TRUE TRUE ENSG00000169994.18 . BCM GRCh38.p13 chr2 127576680 127576680 + C C T Missense_Mutation SNP ENST00000428314.5 exon8 c.C821T p.T274M exonic ENSG00000169994.18 . nonsynonymous SNV ENSG00000169994.18:ENST00000428314.5:exon8:c.C821T:p.T274M 2q14.3 C3N-01167 2.522e-05 0.0001 0 0.0001 0 1.519e-05 0 0 rs755921738 2.20 T T B B N N L D N 0.187 T T D 0.070 0.420 0.250 0.088 T T T T T T 0.923 10.690 0.907 N N -0.915 0.502 -0.932 0.577 1.000 0.653 0.659 0.056 0.542 . 4.940 0.523 -0.049 -2.006 -0.313 0.000 0.354 0.983 958 Myosin_head,_motor_domain;Class_VII_myosin,_motor_domain . . ID=COSV67344428;OCCURENCE=1(breast) MYO7B 77 0 170 25 0.128205128205128 TRUE TRUE ENSG00000115839.18 . BCM GRCh38.p13 chr2 135163083 135163083 + A A - Frame_Shift_Del DEL ENST00000264158.13 exon22 c.2588delA p.K864Rfs*8 exonic ENSG00000115839.18 . frameshift deletion ENSG00000115839.18:ENST00000264158.13:exon22:c.2588delA:p.K864Rfs*8 2q21.3 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB3GAP1 350 1 891 139 0.13495145631068 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178592092 178592092 + C C T Missense_Mutation SNP ENST00000591111.5 exon252 c.G54889A p.A18297T exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon252:c.G54889A:p.A18297T 2q31.2 C3N-01167 8.387e-06 0 0 0 0 1.513e-05 0 0 rs755204306 10.17 D . D D . D M T D 0.687 T T D 0.268 0.387 0.466 0.409 T . T T T D 3.076 23.600 0.946 D D 0.708 7.236 0.728 8.317 1.000 0.487 0.447 0.447 0.564 . 6.030 6.030 4.138 1.026 0.599 1.000 0.999 0.997 410 Fibronectin_type_III . . ID=COSV60146923;OCCURENCE=1(skin) TTN 259 0 508 152 0.23030303030303 TRUE TRUE ENSG00000168036.18 . BCM GRCh38.p13 chr3 41224622 41224622 + C C G Missense_Mutation SNP ENST00000349496.11 exon3 c.C110G p.S37C exonic ENSG00000168036.18 . nonsynonymous SNV ENSG00000168036.18:ENST00000349496.11:exon3:c.C110G:p.S37C 3p22.1 C3N-01167 . . . . . . . . rs121913403 17.20 D D D D D D M T D 0.787 T T D 0.489 0.428 0.708 2.265 D D D D D D 3.958 26.700 0.991 D D 0.917 11.504 0.895 13.540 1.000 0.707 0.725 0.702 0.711 . 5.760 5.760 7.905 1.026 0.597 1.000 1.000 0.999 681 . . . ID=COSV62688281;OCCURENCE=3(breast),47(liver),1(oesophagus),3(adrenal_gland),1(cervix),2(large_intestine),8(central_nervous_system),10(biliary_tract),1(paratesticular_tissues),28(ovary),1(bone),8(stomach),1(kidney),7(urinary_tract),1(soft_tissue),8(pancreas),13(pituitary),4(skin),4(prostate),19(lung),2(testis),42(endometrium) CTNNB1 355 1 905 5 0.00549450549450549 TRUE NA ENSG00000152953.13 . BCM GRCh38.p13 chr4 5446768 5446768 + C C T Missense_Mutation SNP ENST00000282908.10 exon7 c.C658T p.R220W exonic ENSG00000152953.13 . nonsynonymous SNV ENSG00000152953.13:ENST00000282908.10:exon7:c.C658T:p.R220W 4p16.2 C3N-01167 5.784e-05 0.0002 0 0 0 7.513e-05 0 0 rs745729733 10.20 D T D D U D L T D 0.838 T T T 0.220 0.645 0.613 0.142 D T T T D D 4.331 29.800 0.999 D D 0.508 5.100 0.518 5.329 0.975 0.638 0.574 0.659 0.668 . 5.390 5.390 1.579 1.026 0.599 1.000 0.986 0.994 964 Protein_kinase_domain . . ID=COSV51481411;OCCURENCE=1(large_intestine),2(central_nervous_system),2(prostate),1(endometrium) STK32B 192 0 414 119 0.223264540337711 TRUE TRUE ENSG00000174123.11 . BCM GRCh38.p13 chr4 38774888 38774888 + G G A Nonsense_Mutation SNP ENST00000308973.9 exon4 c.C703T p.R235X exonic ENSG00000174123.11 . stopgain ENSG00000174123.11:ENST00000308973.9:exon4:c.C703T:p.R235X 4p14 C3N-01167 0.0001 9.66e-05 8.696e-05 0 0 3.012e-05 0.0022 0.0006 rs139408237 1.6 . . . . N D . . . 0.809 . . . . . . . . . T T . . 5.183 33 0.980 N N -0.166 1.975 -0.547 1.128 0.998 0.632 0.698 0.547 0.530 . 4.910 -1.230 -0.325 -0.699 -0.113 0.000 0.001 0.015 725 . . . ID=COSV100457716;OCCURENCE=1(endometrium) TLR10 62 0 139 21 0.13125 TRUE NA ENSG00000189184.11 . BCM GRCh38.p13 chr4 137521040 137521040 + G G A Missense_Mutation SNP ENST00000344876.8 exon4 c.C3397T p.R1133C exonic ENSG00000189184.11 . nonsynonymous SNV ENSG00000189184.11:ENST00000344876.8:exon4:c.C3397T:p.R1133C 4q28.3 C3N-01167 . . . . . . . . . 15.20 D D D D D D L T D 0.910 T T D 0.248 0.400 0.852 0.632 D T D D D D 4.352 30 0.999 D D 0.590 5.826 0.605 6.282 1.000 0.707 0.588 0.725 0.528 . 5.090 5.090 3.435 1.172 0.614 1.000 1.000 0.997 954 . . . ID=COSV61272057;OCCURENCE=1(skin) PCDH18 30 0 56 17 0.232876712328767 TRUE TRUE ENSG00000205359.10 . BCM GRCh38.p13 chr5 102498772 102498772 + C C T Missense_Mutation SNP ENST00000506729.6 exon1 c.G73A p.A25T exonic ENSG00000205359.10 . nonsynonymous SNV ENSG00000205359.10:ENST00000506729.6:exon1:c.G73A:p.A25T 5q21.1 C3N-01167 . . . . . . . . . 3.20 D T D B N N L T N 0.040 T T T 0.120 0.252 0.030 0.354 T T T T D T -1.144 0.003 0.903 N N -1.501 0.081 -1.718 0.048 0.319 0.422 0.574 0.600 0.613 . 2.880 -5.770 -3.709 -0.555 0.549 0.000 0.000 0.001 238 . . . ID=COSV65808025;OCCURENCE=1(breast),1(oesophagus),1(large_intestine),2(pancreas) SLCO6A1 144 0 397 85 0.176348547717842 TRUE TRUE ENSG00000254245.3 . BCM GRCh38.p13 chr5 141345546 141345546 + G G A Missense_Mutation SNP ENST00000253812.8 exon1 c.G1513A p.V505I exonic ENSG00000254245.3 . nonsynonymous SNV ENSG00000254245.3:ENST00000253812.8:exon1:c.G1513A:p.V505I 5q31.3 C3N-01167 . . . . . . . . . 1.19 T T B B U D L T N 0.042 T T T 0.036 0.446 0.475 0.431 . T T T T T 0.089 1.992 0.920 N N -1.080 0.324 -1.094 0.382 0.085 0.549 0.616 0.686 0.616 . 5.360 -3.500 -1.431 0.242 0.672 0.000 0.808 0.897 725 Cadherin-like . . ID=COSV53891908;OCCURENCE=1(cervix),3(large_intestine),1(prostate) PCDHGA3 315 0 667 135 0.168329177057357 TRUE TRUE ENSG00000253485.2 . BCM GRCh38.p13 chr5 141366006 141366006 + C C T Missense_Mutation SNP ENST00000518069.1 exon1 c.C1676T p.T559M exonic ENSG00000253485.2 . nonsynonymous SNV ENSG00000253485.2:ENST00000518069.1:exon1:c.C1676T:p.T559M 5q31.3 C3N-01167 2.48e-05 0 0 0 0 4.495e-05 0 0 rs760966863 2.18 D D B B . N L T N 0.199 T T T 0.040 0.410 0.332 0.192 . T T T T T 0.612 7.630 0.931 N N -1.117 0.292 -1.282 0.221 0.847 0.549 0.588 0.576 0.616 . 4.720 -5.000 -0.230 -1.331 -0.862 0.000 0.000 0.008 649 Cadherin_conserved_site;Cadherin-like . . ID=COSV54003473;OCCURENCE=1(large_intestine),2(stomach),1(lung) PCDHGA5 342 1 669 318 0.322188449848024 NA TRUE ENSG00000086570.12 . BCM GRCh38.p13 chr5 151543319 151543319 + G G A Missense_Mutation SNP ENST00000261800.5 exon9 c.C7808T p.P2603L exonic ENSG00000086570.12 . nonsynonymous SNV ENSG00000086570.12:ENST00000261800.5:exon9:c.C7808T:p.P2603L 5q33.1 C3N-01167 2.471e-05 0 0.0002 0 0 1.498e-05 0 0 rs372313673 10.20 T D D D D D L T D 0.795 T T D 0.422 . 0.763 0.574 T T T T T D 3.315 24.200 0.993 D D 0.471 4.816 0.491 5.079 1.000 0.554 0.590 0.618 0.564 . 5.360 5.360 9.920 1.176 0.676 1.000 0.050 0.316 891 Cadherin-like . . ID=COSV55822638;OCCURENCE=1(skin) FAT2 179 0 320 168 0.344262295081967 TRUE TRUE ENSG00000164463.12 . BCM GRCh38.p13 chr5 173090407 173090407 + T T A Missense_Mutation SNP ENST00000296953.6 exon4 c.T228A p.D76E exonic ENSG00000164463.12 . nonsynonymous SNV ENSG00000164463.12:ENST00000296953.6:exon4:c.T228A:p.D76E 5q35.1 C3N-01167 . . . . . . . . . 4.20 T T B B D D L T N 0.609 T T T 0.198 0.330 0.123 0.869 T T T T D T 2.031 19.490 0.995 D N -0.135 2.066 0.085 2.673 1.000 0.732 0.744 0.602 0.636 . 5.780 5.780 2.140 1.138 0.665 1.000 1.000 0.999 963 . . . . CREBRF 126 0 342 71 0.171912832929782 TRUE TRUE ENSG00000204687.4 . BCM GRCh38.p13 chr6 29487479 29487479 + C C T Missense_Mutation SNP ENST00000377127.4 exon1 c.G424A p.V142M exonic ENSG00000204687.4 . nonsynonymous SNV ENSG00000204687.4:ENST00000377127.4:exon1:c.G424A:p.V142M 6p22.1 C3N-01167 8.264e-06 0 0 0 0 1.504e-05 0 0 rs755412096 0.18 T T B B . N N T N 0.029 T T T 0.013 0.547 0.014 0.069 T T T T T . -0.095 0.850 0.573 N N -1.737 0.031 -1.844 0.028 0.115 0.487 0.574 0.574 0.564 . 2.130 -4.260 -1.083 -1.290 -2.172 0.000 0.140 0.000 824 GPCR,_rhodopsin-like,_7TM . . . MAS1L 157 0 400 65 0.139784946236559 TRUE NA ENSG00000124813.23 . BCM GRCh38.p13 chr6 45422893 45422893 + A A G Missense_Mutation SNP ENST00000647337.2 exon3 c.A359G p.N120S exonic ENSG00000124813.23 . nonsynonymous SNV ENSG00000124813.23:ENST00000647337.2:exon3:c.A359G:p.N120S 6p21.1 C3N-01167 . . . . . . . . . 15.20 D T B B D D L D D 0.614 D D D 0.582 . 0.858 0.471 T D D D D D 2.619 22.700 0.977 D D -0.087 2.216 -0.023 2.283 1.000 0.443 0.492 0.666 0.555 . 3.660 2.480 6.587 0.240 0.634 1.000 1.000 0.998 663 Runt_domain . . . RUNX2 277 0 549 274 0.332928311057108 TRUE TRUE ENSG00000112038.18 . BCM GRCh38.p13 chr6 154091094 154091094 + G G C Missense_Mutation SNP ENST00000330432.12 exon3 c.G786C p.K262N exonic ENSG00000112038.18 . nonsynonymous SNV ENSG00000112038.18:ENST00000330432.12:exon3:c.G786C:p.K262N 6q25.2 C3N-01167 . . . . . . . . . 12.20 D D D D D D L T D 0.849 T T T 0.397 0.713 0.721 0.353 D T T T D D 3.681 25.300 0.999 D D 0.885 10.661 0.873 12.654 0.999 0.487 0.574 0.574 0.564 . 5.960 5.960 5.730 0.227 -0.103 1.000 1.000 0.993 953 GPCR,_rhodopsin-like,_7TM . . . OPRM1 304 1 494 207 0.295292439372325 TRUE NA ENSG00000158525.15 . BCM GRCh38.p13 chr7 130368538 130368538 + C C G Missense_Mutation SNP ENST00000485477.5 exon12 c.C1252G p.Q418E exonic ENSG00000158525.15 . nonsynonymous SNV ENSG00000158525.15:ENST00000485477.5:exon12:c.C1252G:p.Q418E 7q32.2 C3N-01167 . . . . . . . . . 1.19 T T B B N D . T N 0.103 T T T 0.098 0.410 0.183 0.189 T T T T T T 0.164 2.719 0.160 N N -1.073 0.331 -0.931 0.578 1.000 0.554 0.588 0.602 0.613 . 5.850 1.760 0.369 -0.291 -0.188 0.045 0.925 0.390 646 Peptidase_M14,_carboxypeptidase_A . . . CPA5 186 0 497 146 0.22706065318818 TRUE TRUE ENSG00000164756.12 . BCM GRCh38.p13 chr8 117157832 117157832 + C C T Missense_Mutation SNP ENST00000456015.6 exon4 c.C560T p.A187V exonic ENSG00000164756.12 . nonsynonymous SNV ENSG00000164756.12:ENST00000456015.6:exon4:c.C560T:p.A187V 8q24.11 C3N-01167 0.0003 0 0.0003 0 0 0.0005 0 0 rs141202988 0.20 T T B B N N N T N 0.183 T T T 0.117 . 0.504 0.046 T T T T T T 0.420 5.642 0.145 N N -0.791 0.667 -0.672 0.940 0.000 0.500 0.574 0.624 0.564 . 5.760 2.110 1.001 0.126 -0.173 0.444 0.889 0.109 949 . . . ID=COSV69970408;OCCURENCE=1(liver),2(large_intestine),3(central_nervous_system),1(ovary),2(stomach),1(endometrium) SLC30A8 78 0 421 62 0.128364389233954 TRUE TRUE ENSG00000122733.12 . BCM GRCh38.p13 chr9 34971624 34971624 + G G A Missense_Mutation SNP ENST00000242315.3 exon2 c.G326A p.R109Q exonic ENSG00000122733.12 . nonsynonymous SNV ENSG00000122733.12:ENST00000242315.3:exon2:c.G326A:p.R109Q 9p13.3 C3N-01167 8.37e-06 0.0001 0 0 0 0 0 0 rs372641183 9.18 D D D P D D . . N 0.780 T T T 0.105 . 0.422 1.125 T T T T D D 3.967 26.800 0.999 D D 0.565 5.583 0.604 6.272 1.000 0.554 0.590 0.602 0.542 . 6.030 5.130 9.437 1.176 0.676 1.000 0.909 0.865 266 . . . ID=COSV54273291;OCCURENCE=1(breast),1(large_intestine),1(stomach) PHF24 83 0 830 88 0.0958605664488017 TRUE TRUE ENSG00000204246.3 . BCM GRCh38.p13 chr9 104536089 104536089 + A A T Missense_Mutation SNP ENST00000374781.2 exon1 c.T725A p.M242K exonic ENSG00000204246.3 . nonsynonymous SNV ENSG00000204246.3:ENST00000374781.2:exon1:c.T725A:p.M242K 9q31.1 C3N-01167 . . . . . . . . . 4.20 D D B B U N L T D 0.257 T T T 0.189 0.776 0.559 0.015 T T T T D T 1.999 19.250 0.937 N N -0.337 1.526 -0.339 1.487 0.000 0.487 0.574 0.574 0.564 . 4.180 4.180 1.328 1.312 0.691 0.000 0.997 0.974 666 GPCR,_rhodopsin-like,_7TM . . . OR13C3 168 0 551 203 0.269230769230769 TRUE TRUE ENSG00000130635.16 . BCM GRCh38.p13 chr9 134835097 134835097 + G G A Missense_Mutation SNP ENST00000371817.8 exon65 c.G5263A p.A1755T exonic ENSG00000130635.16 . nonsynonymous SNV ENSG00000130635.16:ENST00000371817.8:exon65:c.G5263A:p.A1755T 9q34.3 C3N-01167 5.877e-05 0 8.728e-05 0.0007 0 0 0 0 rs776748227 3.20 T T P B U D L T N 0.464 T T T 0.189 0.434 0.649 0.287 T T T T T T 2.850 23.100 0.985 D D 0.337 3.978 0.430 4.581 1.000 0.672 0.659 0.723 0.711 . 5.030 5.030 6.035 1.176 0.676 1.000 0.979 0.977 805 Fibrillar_collagen,_C-terminal . . ID=COSV65666442;OCCURENCE=3(stomach) COL5A1 339 1 843 339 0.286802030456853 TRUE NA ENSG00000283787.1 . BCM GRCh38.p13 chr11 1889290 1889290 + C C T Missense_Mutation SNP ENST00000640310.1 exon1 c.G1295A p.R432H exonic ENSG00000283787.1 . nonsynonymous SNV ENSG00000283787.1:ENST00000640310.1:exon1:c.G1295A:p.R432H 11p15.5 C3N-01167 . . . . . . . . . 2.10 . . . . . D . . . . T T D 0.044 0.338 . . . . T T T T 1.326 14.570 0.971 N N -0.284 1.654 -0.385 1.400 1.000 0.461 0.577 0.578 0.563 . 3.410 1.290 0.650 0.910 0.530 0.003 0.809 0.209 982 . . . ID=COSV100289042;OCCURENCE=1(stomach) PRR33 61 0 205 33 0.138655462184874 TRUE NA ENSG00000064201.16 . BCM GRCh38.p13 chr11 2314539 2314539 + G G A Missense_Mutation SNP ENST00000182290.9 exon6 c.G511A p.D171N exonic ENSG00000064201.16 . nonsynonymous SNV ENSG00000064201.16:ENST00000182290.9:exon6:c.G511A:p.D171N 11p15.5 C3N-01167 . . . . . . . . . 1.20 T T P P N N L T N 0.090 T T D 0.241 0.226 0.736 0.038 T T T T T T 0.618 7.688 0.989 N N -0.744 0.740 -0.941 0.565 0.943 0.581 0.574 0.578 0.605 . 3.570 0.325 -0.543 -0.530 -0.196 0.000 0.000 0.001 988 . . . . TSPAN32 228 0 508 131 0.205007824726135 TRUE TRUE ENSG00000184350.11 . BCM GRCh38.p13 chr11 3227890 3227890 + G G A Missense_Mutation SNP ENST00000389832.7 exon2 c.C910T p.R304C exonic ENSG00000184350.11 . nonsynonymous SNV ENSG00000184350.11:ENST00000389832.7:exon2:c.C910T:p.R304C 11p15.4 C3N-01167 . . . . . . . . rs994216531 0.18 T T . . U N N T N 0.227 T T T 0.059 . 0.349 . T T T T T T 2.150 20.500 0.987 N N -0.383 1.421 -0.449 1.286 0.992 0.487 0.574 0.578 0.613 . 3.380 2.390 0.039 0.191 -0.106 0.000 0.001 0.891 976 . . . . MRGPRE 13 0 37 10 0.212765957446809 TRUE NA ENSG00000110514.19 . BCM GRCh38.p13 chr11 47285542 47285542 + G G A Missense_Mutation SNP ENST00000311027.9 exon14 c.G2503A p.V835I exonic ENSG00000110514.19 . nonsynonymous SNV ENSG00000110514.19:ENST00000311027.9:exon14:c.G2503A:p.V835I 11p11.2 C3N-01167 8.26e-06 0 0 0 0 1.502e-05 0 0 rs760678538 3.20 T T B B N D N T N 0.165 T T T 0.096 . 0.157 0.073 T T T T T D 0.889 10.320 0.936 D N -0.685 0.838 -0.488 1.222 0.258 0.707 0.702 0.725 0.714 . 6.170 1.260 0.931 -0.122 -0.106 0.998 0.997 0.997 19 . . . . MADD 183 0 323 180 0.357852882703777 TRUE NA ENSG00000149256.16 . BCM GRCh38.p13 chr11 78672142 78672142 + C C T Missense_Mutation SNP ENST00000278550.12 exon31 c.G5684A p.G1895D exonic ENSG00000149256.16 . nonsynonymous SNV ENSG00000149256.16:ENST00000278550.12:exon31:c.G5684A:p.G1895D 11q14.1 C3N-01167 . . . . . . . . . 17.20 T D D D D D L D D 0.954 D D D 0.617 0.575 0.531 0.806 T D D D D D 3.852 26.100 0.998 D D 0.739 7.701 0.728 8.314 1.000 0.646 0.574 0.645 0.563 . 5.550 5.550 6.170 1.026 0.599 1.000 0.985 0.967 882 . . . . TENM4 300 0 546 258 0.32089552238806 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227341 25227341 + T T G Missense_Mutation SNP ENST00000256078.10 exon3 c.A183C p.Q61H exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A183C:p.Q61H 12p12.1 C3N-01167 . . . . . . . . rs17851045 17.20 D D B B D D M D D 0.760 D D D 0.644 0.659 0.905 1.857 D D D D D T 2.993 23.400 0.997 D D 0.298 3.768 0.383 4.239 0.998 0.722 0.710 0.710 0.735 . 5.770 5.770 2.812 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55498802;OCCURENCE=2(breast),6(liver),1(genital_tract),1(cervix),117(large_intestine),2(central_nervous_system),17(biliary_tract),3(ovary),8(stomach),50(haematopoietic_and_lymphoid_tissue),2(urinary_tract),1(kidney),71(pancreas),2(skin),2(prostate),28(lung),1(thyroid),2(small_intestine),5(endometrium) KRAS 159 1 337 172 0.337917485265226 TRUE TRUE ENSG00000180263.14 . BCM GRCh38.p13 chr12 95172626 95172626 + C C G Missense_Mutation SNP ENST00000343958.9 exon3 c.G2560C p.E854Q exonic ENSG00000180263.14 . nonsynonymous SNV ENSG00000180263.14:ENST00000343958.9:exon3:c.G2560C:p.E854Q 12q22 C3N-01167 . . . . . . . . . 7.20 D T D P N D M T N 0.109 T T T 0.134 0.174 0.617 0.453 T T T T D T 3.397 24.400 0.953 D D 0.513 5.138 0.548 5.625 1.000 0.722 0.588 0.710 0.735 . 5.940 5.940 4.121 1.026 0.599 1.000 0.981 0.973 881 . . . . FGD6 81 0 162 88 0.352 TRUE TRUE ENSG00000139767.10 . BCM GRCh38.p13 chr12 119102258 119102258 + G G A Missense_Mutation SNP ENST00000267260.5 exon2 c.G154A p.V52I exonic ENSG00000139767.10 . nonsynonymous SNV ENSG00000139767.10:ENST00000267260.5:exon2:c.G154A:p.V52I 12q24.23 C3N-01167 0.0002 0.0001 0 0 0 0.0004 0 6.137e-05 rs118023042 0.20 T T B B N N N T N 0.057 T T T 0.007 . 0.014 0.122 T T T T T T -1.410 0.001 0.722 N N -1.738 0.031 -1.853 0.027 1.000 0.660 0.574 0.696 0.564 . 4.830 -9.650 -2.232 -3.593 -1.475 0.000 0.000 0.005 944 . . . . SRRM4 66 0 224 53 0.191335740072202 TRUE NA ENSG00000111452.13 . BCM GRCh38.p13 chr12 131084604 131084604 + G G A Missense_Mutation SNP ENST00000261654.10 exon15 c.G1612A p.V538I exonic ENSG00000111452.13 . nonsynonymous SNV ENSG00000111452.13:ENST00000261654.10:exon15:c.G1612A:p.V538I 12q24.33 C3N-01167 4.971e-05 0 8.667e-05 0.0001 0 4.526e-05 0 6.063e-05 rs200971352 1.18 T T B B N N . T N 0.129 T T D 0.137 . 0.076 0.134 T T T T T T -0.954 0.010 0.823 . N -2.007 0.009 -2.035 0.011 0.376 0.554 0.588 0.578 0.613 . 4.990 -6.860 -0.108 -3.259 -2.868 0.001 0.000 0.096 988 GPS_motif . . ID=COSV55440249;OCCURENCE=1(oesophagus),2(large_intestine),1(stomach),1(pancreas) ADGRD1 270 0 465 198 0.298642533936652 TRUE TRUE ENSG00000198033.12 . BCM GRCh38.p13 chr13 19177009 19177009 + G G A Missense_Mutation SNP ENST00000400113.8 exon4 c.C974T p.P325L exonic ENSG00000198033.12 . nonsynonymous SNV ENSG00000198033.12:ENST00000400113.8:exon4:c.C974T:p.P325L 13q12.11 C3N-01167 8.237e-06 0 8.637e-05 0 0 0 0 0 rs572405672 9.16 . D . . U D H D D 0.489 T D T 0.413 0.760 0.721 1.612 T . T T D D 3.550 24.900 0.988 D N -0.131 2.078 -0.221 1.737 0.009 0.487 0.574 0.547 0.613 . 1.210 0.295 5.243 0.685 0.340 1.000 0.701 0.073 988 Tubulin/FtsZ,_2-layer_sandwich_domain . . ID=COSV68029607;OCCURENCE=1(thyroid) TUBA3C 230 1 775 242 0.23795476892822 NA TRUE ENSG00000102738.8 . BCM GRCh38.p13 chr13 40771109 40771109 + - NA TT Frame_Shift_Ins INS ENST00000323563.8 exon1 c.27_28insAA p.P10Nfs*57 exonic ENSG00000102738.8 . frameshift insertion ENSG00000102738.8:ENST00000323563.8:exon1:c.27_28insAA:p.P10Nfs*57 13q14.11 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MRPS31 NA NA NA NA NA NA NA ENSG00000047346.12 . BCM GRCh38.p13 chr15 52609869 52609869 + G G A Missense_Mutation SNP ENST00000261844.11 exon6 c.C1045T p.R349C exonic ENSG00000047346.12 . nonsynonymous SNV ENSG00000047346.12:ENST00000261844.11:exon6:c.C1045T:p.R349C 15q21.3 C3N-01167 3.5e-05 0.0003 0 0 0 1.592e-05 0 0 rs201191117 0.20 T T B B N N L T N 0.071 T T T 0.074 . 0.234 0.123 T T T T T T 1.442 15.360 0.840 N N -0.900 0.520 -0.877 0.652 0.073 0.707 0.654 0.659 0.714 . 5.370 -1.230 0.369 0.245 0.676 0.000 0.951 0.894 333 . . . ID=COSV55927930;OCCURENCE=1(liver) FAM214A 156 0 282 47 0.142857142857143 TRUE TRUE ENSG00000066813.14 . BCM GRCh38.p13 chr16 20543253 20543253 + C C G Missense_Mutation SNP ENST00000329697.10 exon11 c.G1291C p.D431H exonic ENSG00000066813.14 . nonsynonymous SNV ENSG00000066813.14:ENST00000329697.10:exon11:c.G1291C:p.D431H 16p12.3 C3N-01167 . . . . . . . . . 2.20 D D B B N N L T N 0.346 T T T 0.135 0.559 0.169 0.306 T T T T T T 1.279 14.230 0.878 N N -1.200 0.227 -1.397 0.153 0.000 0.487 0.590 0.492 0.564 . 3.260 -6.350 0.036 -0.488 -0.542 0.005 0.005 0.003 764 AMP-dependent_synthetase/ligase . . . ACSM2B 95 0 389 61 0.135555555555556 NA TRUE ENSG00000080603.17 . BCM GRCh38.p13 chr16 30707352 30707352 + G G T Missense_Mutation SNP ENST00000380361.7 exon2 c.G419T p.R140L exonic ENSG00000080603.17;ENSG00000282034.1 . nonsynonymous SNV ENSG00000282034.1:ENST00000380361.7:exon2:c.G419T:p.R140L,ENSG00000080603.17:ENST00000262518.9:exon5:c.G476T:p.R159L 16p11.2 C3N-01167 . . . . . . . . rs993440316 13.20 T T P P D D L D D 0.467 D D D 0.718 0.558 0.660 1.620 D T D D D T 3.622 25.100 0.987 D D 0.320 3.886 0.371 4.160 1.000 0.672 0.702 0.702 0.711 . 5.290 4.310 5.625 1.176 0.676 1.000 1.000 0.969 10 Helicase/SANT-associated_domain . . . SRCAP 96 1 252 116 0.315217391304348 TRUE TRUE ENSG00000169896.18 . BCM GRCh38.p13 chr16 31297859 31297859 + G G A Missense_Mutation SNP ENST00000544665.9 exon14 c.G1612A p.V538M exonic ENSG00000169896.18 . nonsynonymous SNV ENSG00000169896.18:ENST00000544665.9:exon14:c.G1612A:p.V538M 16p11.2 C3N-01167 . . . . . . . . . 16.19 D D D D . D M T D 0.680 D D D 0.557 0.717 0.901 0.991 T D D T D D 3.811 25.900 0.999 D D 0.746 7.820 0.632 6.647 0.999 0.615 0.634 0.618 0.613 . 3.760 3.760 4.152 1.155 0.676 1.000 0.988 0.995 268 . . . . ITGAM 116 0 258 93 0.264957264957265 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673582 7673583 + GA GA - Frame_Shift_Del DEL ENST00000269305.8 exon9 c.945_946del p.Q317Afs*19 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon9:c.945_946del:p.Q317Afs*19 17p13.1 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 261 0 430 282 0.396067415730337 TRUE TRUE ENSG00000196156.5 . BCM GRCh38.p13 chr17 41167961 41167961 + C C T Missense_Mutation SNP ENST00000391356.4 exon1 c.G212A p.R71H exonic ENSG00000196156.5 . nonsynonymous SNV ENSG00000196156.5:ENST00000391356.4:exon1:c.G212A:p.R71H 17q21.2 C3N-01167 . . . . . . . . . 1.19 T T P B . N M T N 0.040 T T T 0.053 0.477 0.164 0.026 T T T T T T 0.665 8.129 0.965 N N -0.551 1.077 -0.652 0.969 0.000 0.497 0.590 0.316 0.613 . 4.460 1.320 -3.085 -0.966 -0.304 0.000 0.032 0.437 266 . . . ID=COSV101194142;OCCURENCE=1(large_intestine),1(central_nervous_system),1(pancreas) KRTAP4-3 303 0 460 202 0.305135951661631 TRUE NA ENSG00000141646.14 . BCM GRCh38.p13 chr18 51067141 51067157 + CACCTGGAGATGCTGTT CACCTGGAGATGCTGTT - Nonsense_Mutation DEL ENST00000342988.8 exon10 c.1262_1278del p.P422* exonic ENSG00000141646.14 . stopgain ENSG00000141646.14:ENST00000342988.8:exon10:c.1262_1278del:p.P422* 18q21.2 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMAD4 291 0 427 109 0.203358208955224 TRUE TRUE ENSG00000187323.12 . BCM GRCh38.p13 chr18 53207763 53207763 + C C T Missense_Mutation SNP ENST00000442544.7 exon11 c.C1807T p.R603C exonic ENSG00000187323.12 . nonsynonymous SNV ENSG00000187323.12:ENST00000442544.7:exon11:c.C1807T:p.R603C 18q21.2 C3N-01167 4.119e-05 0 0 0 0.0006 1.498e-05 0 0 rs267605206 16.20 D D D D D D M T D 0.759 T T D 0.412 0.682 0.786 0.854 D T D D D D 4.243 29.100 0.992 D D 0.780 8.400 0.755 8.927 0.049 0.487 0.574 0.574 0.564 . 5.830 5.830 3.568 1.026 0.599 1.000 0.949 0.926 715 Fibronectin_type_III . . ID=COSV59087112;OCCURENCE=1(large_intestine),1(skin),1(thyroid),1(endometrium) DCC 311 0 388 102 0.208163265306122 TRUE TRUE ENSG00000196172.9 . BCM GRCh38.p13 chr19 23745169 23745169 + A A C Nonsense_Mutation SNP ENST00000402377.3 exon4 c.T381G p.Y127X exonic ENSG00000196172.9 . stopgain ENSG00000196172.9:ENST00000402377.3:exon4:c.T381G:p.Y127X 19p12 C3N-01167 . . . . . . . . . 1.5 . . . . . D . . . 0.014 . . . . . . . . . T T . . 3.410 24.400 0.888 N N -0.762 0.712 -1.205 0.279 0.000 0.615 0.588 0.659 0.564 . 1.230 -2.460 -2.328 -1.543 -0.711 0.000 0.072 0.029 988 . . . . ZNF681 109 0 282 22 0.0723684210526316 TRUE TRUE ENSG00000196218.13 . BCM GRCh38.p13 chr19 38490122 38490122 + G G A Missense_Mutation SNP ENST00000359596.8 exon36 c.G5861A p.R1954H exonic ENSG00000196218.13 . nonsynonymous SNV ENSG00000196218.13:ENST00000359596.8:exon36:c.G5861A:p.R1954H 19q13.2 C3N-01167 8.278e-06 0 0 0 0 1.507e-05 0 0 rs775643457 17.19 D . D D U D M T D 0.838 D D D 0.763 0.621 0.990 0.758 D D D D D D 4.434 31 0.999 D D 0.871 10.332 0.806 10.301 1.000 0.707 0.593 0.725 0.613 . 4.610 4.610 9.903 1.172 0.671 1.000 0.992 0.993 746 . . . . RYR1 419 0 1071 359 0.251048951048951 TRUE NA ENSG00000182393.3 . BCM GRCh38.p13 chr19 39296516 39296516 + A A G Missense_Mutation SNP ENST00000333625.3 exon1 c.A95G p.K32R exonic ENSG00000182393.3 . nonsynonymous SNV ENSG00000182393.3:ENST00000333625.3:exon1:c.A95G:p.K32R 19q13.2 C3N-01167 . . . . . . . . . 0.20 T T B B N N N T N 0.071 T T T 0.010 0.286 0.030 0.061 T T T T T T -0.774 0.029 0.289 N N -1.966 0.011 -2.007 0.013 0.988 0.497 0.590 0.547 0.542 . 4.590 -9.180 -1.166 -0.641 -0.140 0.000 0.002 0.018 608 . . . . IFNL1 155 0 348 101 0.224944320712695 TRUE TRUE ENSG00000183035.13 . BCM GRCh38.p13 chrX 83874548 83874548 + C C A Missense_Mutation SNP ENST00000329312.5 exon4 c.C1840A p.P614T exonic ENSG00000183035.13 . nonsynonymous SNV ENSG00000183035.13:ENST00000329312.5:exon4:c.C1840A:p.P614T Xq21.1 C3N-01167 . . . . . . . . . 1.18 T T P B . N L T D 0.358 T T T 0.119 0.118 0.110 0.003 T T T T T T 0.137 2.439 0.841 N . . . . . 0.000 . . . . . 3.480 0.596 0.114 -0.231 -0.174 0.478 0.173 0.688 620 . . . ID=COSV100254500;OCCURENCE=1(lung) CYLC1 157 0 401 69 0.146808510638298 TRUE TRUE ENSG00000182195.9 . BCM GRCh38.p13 chrX 141176917 141176917 + G G T Nonsense_Mutation SNP ENST00000370526.5 exon1 c.C105A p.C35X exonic ENSG00000182195.9 . stopgain ENSG00000182195.9:ENST00000370526.5:exon1:c.C105A:p.C35X Xq27.1 C3N-01167 . . . . . . . . . 3.5 . . . . N D . . . 0.806 . . . . . . . . . D D . . 6.526 36 0.993 N . . . . . 1.000 . . . . . 3.610 2.720 1.584 -0.103 -0.190 1.000 0.998 0.994 987 Domain_of_unknown_function_DUF4939 . . . LDOC1 189 0 583 209 0.263888888888889 TRUE TRUE ENSG00000178104.19 . BCM GRCh38.p13 chr1 149027526 149027526 + C C T Silent SNP ENST00000369354.7 exon40 c.C6568T p.L2190L exonic ENSG00000178104.19 . synonymous SNV ENSG00000178104.19:ENST00000369354.7:exon40:c.C6568T:p.L2190L 1q21.2 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57720123;OCCURENCE=1(skin) PDE4DIP 20 0 66 57 0.463414634146341 NA TRUE ENSG00000133063.16 . BCM GRCh38.p13 chr1 203225758 203225758 + G G A Silent SNP ENST00000367229.6 exon3 c.C168T p.Y56Y exonic ENSG00000133063.16 . synonymous SNV ENSG00000133063.16:ENST00000367229.6:exon3:c.C168T:p.Y56Y 1q32.1 C3N-01167 6.591e-05 0.0006 0 0.0001 0 0 0 6.056e-05 rs149551689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CHIT1 500 1 1714 255 0.129507364144236 TRUE NA ENSG00000197591.3 . BCM GRCh38.p13 chr1 247841063 247841063 + G G A Silent SNP ENST00000355784.3 exon1 c.C834T p.Y278Y exonic ENSG00000197591.3 . synonymous SNV ENSG00000197591.3:ENST00000355784.3:exon1:c.C834T:p.Y278Y 1q44 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR11L1 167 0 858 51 0.0561056105610561 TRUE TRUE ENSG00000119778.15 . BCM GRCh38.p13 chr2 23864826 23864826 + A A G Silent SNP ENST00000238789.10 exon11 c.T1287C p.F429F exonic ENSG00000119778.15 . synonymous SNV ENSG00000119778.15:ENST00000238789.10:exon11:c.T1287C:p.F429F 2p23.3 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATAD2B 92 0 192 42 0.179487179487179 TRUE TRUE ENSG00000121988.18 . BCM GRCh38.p13 chr2 135315485 135315485 + A A G Silent SNP ENST00000264159.11 exon7 c.T723C p.N241N exonic ENSG00000121988.18 . synonymous SNV ENSG00000121988.18:ENST00000264159.11:exon7:c.T723C:p.N241N 2q21.3 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZRANB3 57 0 125 43 0.255952380952381 TRUE TRUE ENSG00000114841.17 . BCM GRCh38.p13 chr3 52370590 52370590 + C C T Silent SNP ENST00000420323.6 exon40 c.C6372T p.R2124R exonic ENSG00000114841.17 . synonymous SNV ENSG00000114841.17:ENST00000420323.6:exon40:c.C6372T:p.R2124R 3p21.1 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH1 218 0 376 206 0.353951890034364 TRUE TRUE ENSG00000081148.12 . BCM GRCh38.p13 chr3 101229485 101229485 + G G A Silent SNP ENST00000193391.8 exon17 c.C3528T p.P1176P exonic ENSG00000081148.12 . synonymous SNV ENSG00000081148.12:ENST00000193391.8:exon17:c.C3528T:p.P1176P 3q12.3 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IMPG2 203 0 349 190 0.352504638218924 TRUE TRUE ENSG00000188848.16 . BCM GRCh38.p13 chr4 42143656 42143656 + G G A Silent SNP ENST00000502486.6 exon3 c.C826T p.L276L exonic ENSG00000188848.16 . synonymous SNV ENSG00000188848.16:ENST00000502486.6:exon3:c.C826T:p.L276L 4p13 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BEND4 136 0 505 82 0.1396933560477 TRUE TRUE ENSG00000168491.10 . BCM GRCh38.p13 chr4 185458523 185458523 + A A G Silent SNP ENST00000307588.8 exon6 c.T2064C p.S688S exonic ENSG00000168491.10 . synonymous SNV ENSG00000168491.10:ENST00000307588.8:exon6:c.T2064C:p.S688S 4q35.1 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC110 93 0 138 29 0.173652694610778 TRUE NA ENSG00000121898.13 . BCM GRCh38.p13 chr10 123768610 123768610 + C C T Silent SNP ENST00000241305.4 exon9 c.G1215A p.A405A exonic ENSG00000121898.13 . synonymous SNV ENSG00000121898.13:ENST00000241305.4:exon9:c.G1215A:p.A405A 10q26.13 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CPXM2 126 0 224 208 0.481481481481481 TRUE NA ENSG00000149016.16 . BCM GRCh38.p13 chr11 62578833 62578833 + G G A Silent SNP ENST00000476907.6 exon5 c.C888T p.S296S exonic ENSG00000149016.16;ENSG00000255508.7 . synonymous SNV ENSG00000149016.16:ENST00000476907.6:exon5:c.C888T:p.S296S,ENSG00000255508.7:ENST00000496634.2:exon5:c.C888T:p.S296S 11q12.3 C3N-01167 1.651e-05 0 0 0 0 1.501e-05 0 6.089e-05 rs376134412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TUT1 121 0 202 40 0.165289256198347 TRUE NA ENSG00000165617.14 . BCM GRCh38.p13 chr14 58646915 58646915 + C C T Silent SNP ENST00000335867.4 exon4 c.C2292T p.G764G exonic ENSG00000165617.14 . synonymous SNV ENSG00000165617.14:ENST00000335867.4:exon4:c.C2292T:p.G764G 14q23.1 C3N-01167 8.239e-05 9.617e-05 0 0 0 0.0001 0.0011 0 rs140041218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DACT1 218 0 393 66 0.143790849673203 TRUE NA ENSG00000007545.16 . BCM GRCh38.p13 chr16 1655951 1655951 + G G A Silent SNP ENST00000397412.8 exon10 c.G1194A p.L398L exonic ENSG00000007545.16 . synonymous SNV ENSG00000007545.16:ENST00000397412.8:exon10:c.G1194A:p.L398L 16p13.3 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CRAMP1 117 0 320 164 0.338842975206612 TRUE TRUE ENSG00000276231.5 . BCM GRCh38.p13 chr17 8837809 8837809 + G G A Silent SNP ENST00000619866.5 exon5 c.C252T p.L84L exonic ENSG00000276231.5 . synonymous SNV ENSG00000276231.5:ENST00000619866.5:exon5:c.C252T:p.L84L 17p13.1 C3N-01167 8.296e-06 0 0 0 0 1.501e-05 0 0 rs373458593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PIK3R6 125 0 143 122 0.460377358490566 TRUE NA ENSG00000101493.11 . BCM GRCh38.p13 chr18 76442647 76442647 + G G A Silent SNP ENST00000443185.7 exon3 c.C408T p.G136G exonic ENSG00000101493.11 . synonymous SNV ENSG00000101493.11:ENST00000443185.7:exon3:c.C408T:p.G136G 18q23 C3N-01167 3.378e-05 0.0003 0 0 0 0 0 8.422e-05 rs773122359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV71587445;OCCURENCE=1(stomach) ZNF516 144 0 245 75 0.234375 TRUE TRUE ENSG00000171804.11 . BCM GRCh38.p13 chr19 37889822 37889822 + G G A Silent SNP ENST00000447313.7 exon6 c.C3849T p.D1283D exonic ENSG00000171804.11 . synonymous SNV ENSG00000171804.11:ENST00000447313.7:exon6:c.C3849T:p.D1283D 19q13.13 C3N-01167 0 0 0 0 0 0 0 0 rs544768229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WDR87 130 0 444 132 0.229166666666667 TRUE NA ENSG00000101331.17 . BCM GRCh38.p13 chr20 32031164 32031164 + G G A Silent SNP ENST00000452892.3 exon10 c.G1566A p.A522A exonic ENSG00000101331.17 . synonymous SNV ENSG00000101331.17:ENST00000452892.3:exon10:c.G1566A:p.A522A 20q11.21 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCM2L 185 0 509 84 0.141652613827993 TRUE TRUE ENSG00000237298.10 . BCM GRCh38.p13 chr2 178750139 178750139 + G G C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000237298.10 . . . 2q31.2 C3N-01167 . . . . . . . . . 0.16 T T B B . N . T N 0.109 T T T 0.047 0.387 0.030 . . . T T T T -0.379 0.213 0.949 N N -1.484 0.086 -1.558 0.088 0.998 0.549 0.574 0.574 0.616 . 5.760 -6.430 -1.156 -0.610 -0.633 0.000 0.000 0.001 341 . . . . TTN-AS1 192 0 449 157 0.259075907590759 TRUE NA ENSG00000254588.1 . BCM GRCh38.p13 chr11 128527056 128527056 + T T A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000254588.1 . . . 11q24.3 C3N-01167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ETS1-AS1 49 0 86 25 0.225225225225225 TRUE NA ENSG00000140848.17 . BCM GRCh38.p13 chr16 57094074 57094074 + C C T Intron SNP NA NA NA NA intronic ENSG00000140848.17 . . . 16q13 C3N-01167 . . . . . . . . rs778148063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99321214;OCCURENCE=1(cervix),1(skin) CPNE2 189 0 437 139 0.241319444444444 TRUE NA ENSG00000047644.19 . BCM GRCh38.p13 chrX 10117697 10117697 + C C T Intron SNP NA NA NA NA intronic ENSG00000047644.19 . . . Xp22.2 C3N-01167 5.853e-05 0 0 0 0 0.0001 0 0 rs763486319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WWC3 71 0 139 60 0.301507537688442 TRUE NA ENSG00000117724.13 . BCM GRCh38.p13 chr1 214641403 214641403 + A A T Missense_Mutation SNP ENST00000366955.8 exon12 c.A3065T p.K1022I exonic ENSG00000117724.13 . nonsynonymous SNV ENSG00000117724.13:ENST00000366955.8:exon12:c.A3065T:p.K1022I 1q41 C3L-01971 . . . . . . . . . 4.19 D D D P N N . T N 0.209 T T T 0.091 0.320 0.300 0.110 T T T T D T 1.676 16.870 0.985 N N -0.469 1.238 -0.617 1.021 0.780 0.732 0.725 0.651 0.728 . 4.860 -1.530 0.292 -0.888 -0.074 0.061 0.329 0.971 899 . . . . CENPF 87 0 170 21 0.109947643979058 TRUE TRUE ENSG00000079308.19 . BCM GRCh38.p13 chr2 217818025 217818025 + C C T Missense_Mutation SNP ENST00000171887.8 exon24 c.G3995A p.R1332Q exonic ENSG00000079308.19 . nonsynonymous SNV ENSG00000079308.19:ENST00000171887.8:exon24:c.G3995A:p.R1332Q 2q35 C3L-01971 1.398e-05 0 0 0 0 2.52e-05 0 0 rs747091639 8.20 D T B B N D L D N 0.208 T D D 0.145 0.306 0.560 0.147 T T T T T D 2.476 22.400 0.997 D D -0.222 1.815 -0.128 1.968 1.000 0.707 0.610 0.659 0.714 . 5.100 3.260 2.279 0.104 0.599 0.961 0.867 0.604 944 . . . . TNS1 150 0 379 29 0.071078431372549 TRUE NA ENSG00000221944.8 . BCM GRCh38.p13 chr2 232549438 232549438 + T T G Missense_Mutation SNP ENST00000408957.6 exon1 c.A445C p.K149Q exonic ENSG00000221944.8 . nonsynonymous SNV ENSG00000221944.8:ENST00000408957.6:exon1:c.A445C:p.K149Q 2q37.1 C3L-01971 . . . . . . . . . 1.19 T T P P . N M T N 0.086 T T T 0.045 0.387 0.602 . T T T T T T 2.400 22.100 0.871 N N -0.409 1.363 -0.642 0.984 0.999 0.635 0.628 0.644 0.605 . 0.556 0.556 0.446 0.737 0.661 0.544 0.453 0.605 917 HTH_CenpB-type_DNA-binding_domain . . . TIGD1 41 0 96 20 0.172413793103448 NA TRUE ENSG00000038219.13 . BCM GRCh38.p13 chr4 13603491 13603491 + T T - Frame_Shift_Del DEL ENST00000040738.10 exon10 c.3409delA p.T1137Pfs*18 exonic ENSG00000038219.13 . frameshift deletion ENSG00000038219.13:ENST00000040738.10:exon10:c.3409delA:p.T1137Pfs*18 4p15.33 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BOD1L1 170 0 280 20 0.0666666666666667 NA TRUE ENSG00000172403.11 . BCM GRCh38.p13 chr4 119027234 119027234 + G G A Missense_Mutation SNP ENST00000429713.7 exon3 c.G865A p.D289N exonic ENSG00000172403.11 . nonsynonymous SNV ENSG00000172403.11:ENST00000429713.7:exon3:c.G865A:p.D289N 4q26 C3L-01971 8.251e-06 0 0 0 0 0 0 6.058e-05 rs756133104 3.20 T T B B N D L T N 0.131 T T T 0.077 0.283 0.082 0.089 T T T T T T 2.652 22.700 0.998 D D 0.223 3.404 0.303 3.732 1.000 0.659 0.574 0.725 0.542 . 4.680 4.680 3.555 1.176 0.676 1.000 0.905 0.970 576 . . . ID=COSV61107334;OCCURENCE=1(large_intestine) SYNPO2 159 0 300 20 0.0625 TRUE TRUE ENSG00000113205.5 . BCM GRCh38.p13 chr5 141102820 141102820 + G G A Missense_Mutation SNP ENST00000231130.3 exon1 c.G2171A p.R724H exonic ENSG00000113205.5 . nonsynonymous SNV ENSG00000113205.5:ENST00000231130.3:exon1:c.G2171A:p.R724H 5q31.3 C3L-01971 . . . . . . . . . 1.14 T T . . . N . T N 0.077 T T T 0.091 0.495 0.334 . T . T T D T 0.673 8.210 0.996 N . -0.421 1.338 -0.640 0.987 0.000 0.693 0.574 0.659 0.621 . 4.140 2.020 -0.871 0.140 -0.390 0.000 0.404 0.057 491 . . . ID=COSV99166913;OCCURENCE=1(endometrium) PCDHB3 193 0 364 102 0.218884120171674 NA TRUE ENSG00000253159.3 . BCM GRCh38.p13 chr5 141432627 141432627 + C C T Missense_Mutation SNP ENST00000252085.4 exon1 c.C1868T p.T623M exonic ENSG00000253159.3 . nonsynonymous SNV ENSG00000253159.3:ENST00000252085.4:exon1:c.C1868T:p.T623M 5q31.3 C3L-01971 . . . . . . . . . 11.18 D D D D . D H T D 0.442 T T D 0.357 0.706 0.849 . . T T T D D 2.856 23.100 0.998 D N 0.506 5.082 0.342 3.968 0.986 0.677 0.588 0.576 0.601 . 5.060 4.130 -0.548 1.021 0.578 0.000 0.980 0.520 813 Cadherin-like . . ID=COSV52744421;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(stomach) PCDHGA12 363 0 834 72 0.0794701986754967 NA TRUE ENSG00000204227.5 . BCM GRCh38.p13 chr6 33209959 33209959 + G G A Missense_Mutation SNP ENST00000374656.5 exon4 c.G284A p.R95Q exonic ENSG00000204227.5 . nonsynonymous SNV ENSG00000204227.5:ENST00000374656.5:exon4:c.G284A:p.R95Q 6p21.32 C3L-01971 . . . . . . . . . 13.19 D D D P D D M T D 0.796 T T D 0.403 0.341 0.793 1.680 T D D T D . 4.320 29.700 1.000 D D 0.772 8.258 0.714 8.018 1.000 0.707 0.702 0.554 0.714 . 4.230 4.230 9.588 1.166 0.665 1.000 0.998 0.995 712 . . . ID=COSV63002527;OCCURENCE=1(stomach),1(endometrium) RING1 307 0 556 148 0.210227272727273 TRUE TRUE ENSG00000213204.8 . BCM GRCh38.p13 chr6 87416780 87416780 + G G A Missense_Mutation SNP ENST00000369562.9 exon6 c.G584A p.R195H exonic ENSG00000213204.8;ENSG00000272514.6 . nonsynonymous SNV ENSG00000272514.6:ENST00000369562.9:exon6:c.G584A:p.R195H,ENSG00000213204.8:ENST00000507897.5:exon6:c.G584A:p.R195H 6q15 C3L-01971 3.298e-05 0 0 0.0001 0 2.999e-05 0 6.061e-05 rs757635858 14.18 D D D D D D . T D 0.728 T T D 0.575 0.833 0.558 0.743 . D T D D D 4.159 28.300 0.999 D D 0.928 11.807 0.892 13.419 1.000 0.516 0.574 0.574 0.586 . 5.700 5.700 6.493 1.176 0.676 1.000 1.000 1.000 819 . . . ID=COSV51532616;OCCURENCE=1(large_intestine),1(prostate) AL049697.1 105 0 194 49 0.201646090534979 TRUE TRUE ENSG00000189241.8 . BCM GRCh38.p13 chr6 116278753 116278753 + C C T Missense_Mutation SNP ENST00000368608.4 exon1 c.G1078A p.G360R exonic ENSG00000189241.8 . nonsynonymous SNV ENSG00000189241.8:ENST00000368608.4:exon1:c.G1078A:p.G360R 6q22.1 C3L-01971 . . . . . . . . . 11.20 D D D D N D M T D 0.620 T T D 0.303 0.682 0.542 1.617 T T T T D D 4.150 28.200 0.999 D N 0.676 6.797 0.586 6.055 1.000 0.543 0.686 0.686 0.639 . 4.320 4.320 4.231 0.959 0.520 0.996 0.971 0.997 566 . . . . TSPYL1 161 0 310 45 0.126760563380282 TRUE TRUE ENSG00000152818.18 . BCM GRCh38.p13 chr6 144485461 144485461 + G G A Missense_Mutation SNP ENST00000367545.7 exon27 c.G3764A p.R1255Q exonic ENSG00000152818.18 . nonsynonymous SNV ENSG00000152818.18:ENST00000367545.7:exon27:c.G3764A:p.R1255Q 6q24.2 C3L-01971 4.118e-05 0.0002 0 0 0 2.997e-05 0 6.056e-05 rs752470080 5.19 D . D B D N L T N 0.129 T T T 0.067 0.404 0.321 0.277 T T T T T D 3.347 24.300 0.999 D N 0.231 3.445 0.261 3.497 0.722 0.732 0.725 0.744 0.714 . 5.120 4.250 3.133 1.176 0.676 0.999 0.907 0.990 894 . . . ID=COSV104423030;OCCURENCE=1(large_intestine) UTRN 178 0 290 24 0.0764331210191083 TRUE NA ENSG00000132436.11 . BCM GRCh38.p13 chr7 50445787 50445787 + C C T Missense_Mutation SNP ENST00000419119.1 exon2 c.G1501A p.E501K exonic ENSG00000132436.11 . nonsynonymous SNV ENSG00000132436.11:ENST00000419119.1:exon2:c.G1501A:p.E501K 7p12.2 C3L-01971 . . . . . . . . . 20.20 D D D D D D H D D 0.919 D D D 0.959 0.970 0.996 0.172 D D D D D D 4.110 27.800 0.999 D D 1.132 19.049 1.050 22.319 1.000 0.722 0.699 0.710 0.735 . 6.170 6.170 7.905 1.026 0.599 1.000 1.000 0.994 768 ATPase,_AAA-type,_core;AAA+_ATPase_domain . . ID=COSV63553302;OCCURENCE=1(large_intestine),3(endometrium) FIGNL1 178 0 297 79 0.210106382978723 TRUE TRUE ENSG00000001626.16 . BCM GRCh38.p13 chr7 117611704 117611704 + A A G Missense_Mutation SNP ENST00000003084.11 exon20 c.A3263G p.N1088S exonic ENSG00000001626.16 . nonsynonymous SNV ENSG00000001626.16:ENST00000003084.11:exon20:c.A3263G:p.N1088S 7q31.2 C3L-01971 . . . . . . . . . 8.20 T T B B D D L D N 0.387 T T D 0.279 0.682 0.984 0.005 T T T T D D 1.427 15.260 0.961 D D 0.222 3.403 0.346 3.997 0.999 0.554 0.574 0.618 0.564 . 5.690 5.690 3.790 0.321 -0.057 1.000 1.000 0.997 845 ABC_transporter_type_1,_transmembrane_domain . . ID=COSV50054547;OCCURENCE=1(skin) CFTR 345 0 706 143 0.168433451118963 TRUE TRUE ENSG00000135253.14 . BCM GRCh38.p13 chr7 128877528 128877528 + C C T Missense_Mutation SNP ENST00000613019.4 exon37 c.G4394A p.R1465H exonic ENSG00000135253.14 . nonsynonymous SNV ENSG00000135253.14:ENST00000613019.4:exon37:c.G4394A:p.R1465H 7q32.1 C3L-01971 0.0001 0.0005 0 0 0 0 0 0.0001 rs368547608 5.7 . D . . . . . . . 0.473 . . . . . 0.362 . T T D D . D 3.703 25.400 0.868 D . . . . . 1.000 0.162 0.187 0.129 0.059 0.974 5.280 5.280 1.064 1.022 0.596 0.489 1.000 0.994 571 Uncharacterised_domain,_cysteine-rich . . . KCP 183 0 431 40 0.0849256900212314 TRUE NA ENSG00000226660.2 . BCM GRCh38.p13 chr7 142301019 142301019 + T T C Missense_Mutation SNP ENST00000455382.2 exon1 c.T22C p.W8R exonic ENSG00000226660.2 . nonsynonymous SNV ENSG00000226660.2:ENST00000455382.2:exon1:c.T22C:p.W8R 7q34 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRBV2 249 0 571 91 0.137462235649547 TRUE TRUE ENSG00000184661.14 . BCM GRCh38.p13 chr8 25507073 25507073 + G G T Nonsense_Mutation SNP ENST00000330560.8 exon15 c.G2407T p.E803X exonic ENSG00000184661.14 . stopgain ENSG00000184661.14:ENST00000330560.8:exon15:c.G2407T:p.E803X 8p21.2 C3L-01971 . . . . . . . . . 3.6 . . . . N D . . . 0.112 . . . . . . . . . D D . . 7.433 38 0.986 N N 0.463 4.759 0.171 3.046 1.000 0.732 0.725 0.688 0.728 . 5.600 3.690 1.811 1.176 0.676 0.762 0.256 0.628 925 . . . . CDCA2 184 1 293 45 0.133136094674556 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971178 21971178 + C C - Frame_Shift_Del DEL ENST00000304494.9 exon2 c.181delG p.E61Sfs*85 exonic ENSG00000147889.17 . frameshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.181delG:p.E61Sfs*85 9p21.3 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 271 0 496 221 0.308228730822873 NA TRUE ENSG00000205143.3 . BCM GRCh38.p13 chr9 34623584 34623584 + C C A Missense_Mutation SNP ENST00000378909.3 exon4 c.G706T p.G236C exonic ENSG00000205143.3 . nonsynonymous SNV ENSG00000205143.3:ENST00000378909.3:exon4:c.G706T:p.G236C 9p13.3 C3L-01971 . . . . . . . . . 4.20 D T P B N N M T N 0.171 T T D 0.029 0.329 0.238 0.292 T T T T T T 1.287 14.290 0.996 D N -0.444 1.290 -0.565 1.099 0.999 0.598 0.563 0.596 0.639 . 4.780 0.709 0.188 0.129 0.526 0.260 0.015 0.071 269 . . . . ARID3C 43 0 119 32 0.211920529801325 TRUE TRUE ENSG00000136929.13 . BCM GRCh38.p13 chr9 97930076 97930076 + G G A Missense_Mutation SNP ENST00000616898.2 exon3 c.C1319T p.A440V exonic ENSG00000136929.13 . nonsynonymous SNV ENSG00000136929.13:ENST00000616898.2:exon3:c.C1319T:p.A440V 9q22.33 C3L-01971 . . . . . . . . . 0.19 T T B B N N L . N 0.090 T T T 0.036 0.139 0.183 0.056 T T T T T T 1.001 11.640 0.947 N N -0.781 0.683 -0.775 0.793 1.000 0.497 0.547 0.590 0.530 . 4.650 2.670 0.296 0.203 -0.244 0.000 0.954 0.985 605 . . . . HEMGN 186 0 385 38 0.0898345153664303 TRUE TRUE ENSG00000136861.18 . BCM GRCh38.p13 chr9 120536391 120536391 + C C A Missense_Mutation SNP ENST00000349780.9 exon7 c.G643T p.V215F exonic ENSG00000136861.18 . nonsynonymous SNV ENSG00000136861.18:ENST00000349780.9:exon7:c.G643T:p.V215F 9q33.2 C3L-01971 . . . . . . . . . 5.20 D T D P N N M T N 0.404 T T T 0.086 0.111 0.563 0.225 T T T T D D 2.940 23.300 0.994 N N 0.273 3.643 0.248 3.427 1.000 0.707 0.725 0.725 0.714 . 5.390 5.390 2.196 1.026 0.599 0.394 0.174 0.827 951 . . . . CDK5RAP2 207 0 466 59 0.112380952380952 TRUE TRUE ENSG00000197694.18 . BCM GRCh38.p13 chr9 128577223 128577223 + C C T Missense_Mutation SNP ENST00000372731.8 exon7 c.C880T p.L294F exonic ENSG00000197694.18 . nonsynonymous SNV ENSG00000197694.18:ENST00000372731.8:exon7:c.C880T:p.L294F 9q34.11 C3L-01971 . . . . . . . . . 10.20 T T D D D D L T N 0.755 T T D 0.190 0.632 0.525 1.837 D T T T D D 3.045 23.500 0.999 D D 0.702 7.140 0.726 8.277 1.000 0.707 0.725 0.725 0.711 . 6.170 6.170 3.891 1.026 0.599 1.000 1.000 0.996 0 . . . . SPTAN1 473 0 886 188 0.175046554934823 TRUE TRUE ENSG00000180720.7 . BCM GRCh38.p13 chr11 46385280 46385280 + G G C Missense_Mutation SNP ENST00000433765.3 exon1 c.C1278G p.C426W exonic ENSG00000180720.7 . nonsynonymous SNV ENSG00000180720.7:ENST00000433765.3:exon1:c.C1278G:p.C426W 11p11.2 C3L-01971 . . . . . . . . . 18.19 D D D D . D M T D 0.939 D D D 0.719 0.747 0.896 2.271 D D D D D D 4.014 27.100 0.994 D D 0.579 5.713 0.517 5.321 1.000 0.660 0.590 0.696 0.605 . 4.580 4.580 0.876 1.164 0.660 1.000 1.000 0.999 31 GPCR,_rhodopsin-like,_7TM . . . CHRM4 155 0 358 79 0.180778032036613 TRUE TRUE ENSG00000149136.9 . BCM GRCh38.p13 chr11 57332713 57332713 + C C T Missense_Mutation SNP ENST00000278412.7 exon6 c.G680A p.G227D exonic ENSG00000149136.9 . nonsynonymous SNV ENSG00000149136.9:ENST00000278412.7:exon6:c.G680A:p.G227D 11q12.1 C3L-01971 . . . . . . . . . 19.20 D D D D D D H T D 0.886 D D D 0.711 0.932 0.771 2.726 D D D D D D 3.867 26.200 0.999 D D 0.974 13.124 0.913 14.338 1.000 0.719 0.723 0.725 0.714 . 5.800 5.800 7.521 1.026 0.599 1.000 0.954 0.964 442 . . . ID=COSV53479305;OCCURENCE=1(prostate) SSRP1 124 1 286 53 0.156342182890855 TRUE TRUE ENSG00000149311.18 . BCM GRCh38.p13 chr11 108229309 108229309 + A A G Missense_Mutation SNP ENST00000278616.8 exon4 c.A317G p.K106R exonic ENSG00000149311.18 . nonsynonymous SNV ENSG00000149311.18:ENST00000278616.8:exon4:c.A317G:p.K106R 11q22.3 C3L-01971 . . . . . . . . rs878853501 2.20 T T B B N N N T N 0.299 T T T 0.082 0.309 0.748 0.106 T T T T D T 1.853 18.120 0.838 D N -0.395 1.394 -0.153 1.904 1.000 0.732 0.744 0.651 0.684 . 5.850 3.570 5.673 1.288 0.756 1.000 1.000 0.998 125 Telomere-length_maintenance_and_DNA_damage_repair . . . ATM 232 0 434 85 0.163776493256262 TRUE NA ENSG00000149294.16 . BCM GRCh38.p13 chr11 113235153 113235153 + C C T Missense_Mutation SNP ENST00000316851.11 exon14 c.C1814T p.T605M exonic ENSG00000149294.16 . nonsynonymous SNV ENSG00000149294.16:ENST00000316851.11:exon14:c.C1814T:p.T605M 11q23.2 C3L-01971 8.861e-06 0 0 0 0 1.605e-05 0 0 rs782353037 12.16 . D D D U D . . . 0.857 T T D 0.487 0.184 0.488 . T D D D D D 4.117 27.900 0.999 D D 0.804 8.852 0.819 10.706 1.000 0.554 0.563 0.602 0.564 . 5.840 5.840 7.715 1.026 0.549 1.000 0.993 0.988 656 Fibronectin_type_III . . ID=COSV57517108;OCCURENCE=1(cervix),4(large_intestine) NCAM1 137 0 366 74 0.168181818181818 TRUE TRUE ENSG00000149428.19 . BCM GRCh38.p13 chr11 119048802 119048802 + G G A Missense_Mutation SNP ENST00000617285.5 exon18 c.C2077T p.R693W exonic ENSG00000149428.19 . nonsynonymous SNV ENSG00000149428.19:ENST00000617285.5:exon18:c.C2077T:p.R693W 11q23.3 C3L-01971 8.255e-06 0 0 0 0 1.5e-05 0 0 rs782191000 6.16 . D P P D D L . . 0.263 T T T 0.183 0.477 0.310 . T T T T D . 3.995 26.900 0.999 D D 0.425 4.502 0.441 4.661 1.000 0.707 0.696 0.702 0.714 . 5.370 5.370 4.285 1.176 0.676 1.000 0.990 0.753 243 . . . . HYOU1 98 0 278 55 0.165165165165165 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-01971 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 245 0 412 210 0.337620578778135 TRUE TRUE ENSG00000139718.10 . BCM GRCh38.p13 chr12 121825313 121825314 + AG AG - Frame_Shift_Del DEL ENST00000604567.5 exon13 c.5284_5285del p.R1762Ifs*11 exonic ENSG00000139718.10 . frameshift deletion ENSG00000139718.10:ENST00000604567.5:exon13:c.5284_5285del:p.R1762Ifs*11 12q24.31 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETD1B 178 0 351 76 0.177985948477752 TRUE TRUE ENSG00000185950.9 . BCM GRCh38.p13 chr13 109783310 109783310 + C C T Missense_Mutation SNP ENST00000375856.5 exon1 c.G2744A p.S915N exonic ENSG00000185950.9 . nonsynonymous SNV ENSG00000185950.9:ENST00000375856.5:exon1:c.G2744A:p.S915N 13q34 C3L-01971 . . . . . . . . . 15.20 D D D D U D M T N 0.447 D D D 0.290 0.274 0.869 . D D T T D D 3.676 25.300 0.997 D D 0.740 7.714 0.682 7.430 1.000 0.696 0.588 0.692 0.605 . 4.420 4.420 5.687 0.950 0.520 1.000 0.998 0.986 968 . . . . IRS2 61 0 156 51 0.246376811594203 TRUE TRUE ENSG00000213903.9 . BCM GRCh38.p13 chr14 24316130 24316130 + C C T Missense_Mutation SNP ENST00000345363.8 exon2 c.C479T p.P160L exonic ENSG00000213903.9 . nonsynonymous SNV ENSG00000213903.9:ENST00000345363.8:exon2:c.C479T:p.P160L 14q12 C3L-01971 . . . . . . . . . 0.19 T T B B N N N T N 0.178 T T T 0.168 0.496 0.384 0.884 T T T T T . -1.716 0.001 0.728 N N -1.861 0.018 -2.007 0.013 1.000 0.741 0.644 0.000 0.722 . 5.330 -10.700 -11.165 -0.097 -1.657 0.000 0.000 0.001 856 GPCR,_rhodopsin-like,_7TM . . . LTB4R 179 0 516 98 0.159609120521173 TRUE TRUE ENSG00000157766.18 . BCM GRCh38.p13 chr15 88838876 88838876 + G G A Missense_Mutation SNP ENST00000439576.7 exon3 c.G284A p.R95Q exonic ENSG00000157766.18 . nonsynonymous SNV ENSG00000157766.18:ENST00000439576.7:exon3:c.G284A:p.R95Q 15q26.1 C3L-01971 1.656e-05 0 0 0 0 2.998e-05 0 0 rs539804190 8.19 D D P B . D L T D 0.344 T T T 0.174 0.619 0.159 0.228 T D T T D D 2.850 23.100 0.999 D N 0.229 3.432 0.264 3.515 1.000 0.526 0.590 0.506 0.584 . 5.360 4.450 3.285 1.176 0.618 1.000 0.463 0.885 966 Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV61360848;OCCURENCE=1(lung) ACAN 381 0 724 95 0.115995115995116 TRUE NA ENSG00000197562.10 . BCM GRCh38.p13 chr16 627597 627597 + C C G Missense_Mutation SNP ENST00000248139.8 exon6 c.C821G p.S274W exonic ENSG00000197562.10 . nonsynonymous SNV ENSG00000197562.10:ENST00000248139.8:exon6:c.C821G:p.S274W 16p13.3 C3L-01971 . . . . . . . . . 9.20 D D P B D D L T N 0.514 T T D 0.224 0.285 0.862 1.866 T T T T D D 3.247 24.000 0.987 D D 0.350 4.050 0.400 4.362 1.000 0.660 0.694 0.723 0.662 . 4.850 4.850 6.063 1.026 0.599 1.000 0.828 0.929 649 . . . . RAB40C 63 0 117 30 0.204081632653061 TRUE TRUE ENSG00000103351.13 . BCM GRCh38.p13 chr16 3504755 3504755 + C C T Nonsense_Mutation SNP ENST00000576634.6 exon2 c.C58T p.R20X exonic ENSG00000103351.13 . stopgain ENSG00000103351.13:ENST00000576634.6:exon2:c.C58T:p.R20X 16p13.3 C3L-01971 8.239e-06 0 0 0.0001 0 0 0 0 rs759248659 5.6 . . . . D D . . . 0.474 . . . . . . . . . D D . . 7.708 39 0.998 D N 0.776 8.322 0.635 6.693 1.000 0.745 0.634 0.659 0.762 . 5.340 4.390 5.648 0.963 0.526 1.000 0.992 0.978 707 . . . ID=COSV58892567;OCCURENCE=1(central_nervous_system) CLUAP1 192 0 322 43 0.117808219178082 TRUE TRUE ENSG00000183549.10 . BCM GRCh38.p13 chr16 20423981 20423981 + C C A Missense_Mutation SNP ENST00000331849.8 exon6 c.C833A p.A278E exonic ENSG00000183549.10 . nonsynonymous SNV ENSG00000183549.10:ENST00000331849.8:exon6:c.C833A:p.A278E 16p12.3 C3L-01971 . . . . . . . . . 11.20 D D D D D D H T N 0.603 T T T 0.420 0.824 0.784 0.605 T T D T D D 3.232 23.900 0.995 N D 0.526 5.246 0.391 4.298 1.000 0.554 0.547 0.618 0.564 . 4.560 4.560 2.121 1.026 0.599 0.040 1.000 0.996 809 AMP-dependent_synthetase/ligase . . . ACSM5 259 0 577 94 0.140089418777943 NA TRUE ENSG00000006116.4 . BCM GRCh38.p13 chr16 24361649 24361649 + G G A Missense_Mutation SNP ENST00000005284.4 exon4 c.G734A p.R245Q exonic ENSG00000006116.4 . nonsynonymous SNV ENSG00000006116.4:ENST00000005284.4:exon4:c.G734A:p.R245Q 16p12.1 C3L-01971 1.648e-05 0 0 0 0 2.999e-05 0 0 rs746004181 10.20 D T D P D D M T N 0.355 T T D 0.235 0.300 0.448 1.962 T T T T D D 3.738 25.600 1.000 D D 0.685 6.908 0.679 7.376 0.999 0.554 0.588 0.618 0.564 . 4.950 4.950 6.470 1.176 0.674 1.000 1.000 0.999 917 . . . ID=COSV50065372;OCCURENCE=1(central_nervous_system),1(skin),1(prostate) CACNG3 123 0 232 59 0.202749140893471 TRUE TRUE ENSG00000168676.11 . BCM GRCh38.p13 chr16 67290959 67290959 + C C T Missense_Mutation SNP ENST00000304372.6 exon15 c.G2593A p.V865M exonic ENSG00000168676.11 . nonsynonymous SNV ENSG00000168676.11:ENST00000304372.6:exon15:c.G2593A:p.V865M 16q22.1 C3L-01971 . . . . . . . . . 13.20 D D D D D D L T N 0.776 T T D 0.270 0.158 0.861 0.956 T T D D D D 3.661 25.300 0.999 D D 0.599 5.918 0.637 6.725 1.000 0.554 0.588 0.547 0.568 . 5.670 5.670 4.713 1.026 0.599 1.000 1.000 0.997 23 . . . . KCTD19 132 0 312 66 0.174603174603175 TRUE TRUE ENSG00000140873.16 . BCM GRCh38.p13 chr16 77353875 77353875 + G G A Missense_Mutation SNP ENST00000282849.10 exon10 c.C1472T p.A491V exonic ENSG00000140873.16 . nonsynonymous SNV ENSG00000140873.16:ENST00000282849.10:exon10:c.C1472T:p.A491V 16q23.1 C3L-01971 . . . . . . . . . 9.20 D D B B D D L T D 0.855 T T T 0.367 0.856 0.444 . T T T T D D 3.572 24.900 0.998 D D 0.389 4.275 0.502 5.178 1.000 0.563 0.574 0.547 0.636 . 5.220 5.220 9.488 1.167 0.676 1.000 0.671 0.775 791 Peptidase_M12B,_ADAM/reprolysin . . ID=COSV51423374;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) ADAMTS18 438 0 712 143 0.167251461988304 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7673823 7673823 + C C T Missense_Mutation SNP ENST00000269305.8 exon8 c.G797A p.G266E exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon8:c.G797A:p.G266E 17p13.1 C3L-01971 . . . . . . . . rs193920774 19.20 D D D D D D M D D 0.974 D D D 0.973 0.928 0.991 0.434 T D D D D D 4.155 28.200 0.998 D D 0.885 10.673 0.802 10.174 1.000 0.722 0.702 0.725 0.735 . 5.130 5.130 7.905 1.022 0.596 1.000 0.975 0.969 432 p53,_DNA-binding_domain . . ID=COSV52664019;OCCURENCE=22(breast),3(liver),1(genital_tract),10(oesophagus),1(cervix),12(large_intestine),3(central_nervous_system),5(biliary_tract),1(vulva),4(ovary),1(bone),1(NS),5(stomach),8(haematopoietic_and_lymphoid_tissue),2(kidney),7(urinary_tract),8(pancreas),4(skin),2(prostate),11(lung),1(thyroid),9(upper_aerodigestive_tract),1(small_intestine),2(endometrium) TP53 457 0 724 193 0.210468920392585 TRUE TRUE ENSG00000141741.12 . BCM GRCh38.p13 chr17 39730221 39730221 + C C T Missense_Mutation SNP ENST00000394231.8 exon2 c.G160A p.E54K exonic ENSG00000141741.12 . nonsynonymous SNV ENSG00000141741.12:ENST00000394231.8:exon2:c.G160A:p.E54K 17q12 C3L-01971 . . . . . . . . . 3.20 T T B B N N L T N 0.372 T T T 0.031 0.427 0.134 0.435 D T T T D T 2.752 22.900 0.985 D N -0.254 1.730 -0.094 2.063 1.000 0.442 0.522 0.522 0.562 . 5.050 2.960 1.872 1.016 0.537 1.000 0.996 0.991 583 . . . . MIEN1 128 1 376 38 0.0917874396135266 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51048711 51048712 + AT AT - Frame_Shift_Del DEL ENST00000342988.8 exon3 c.275_276del p.H92Rfs*11 exonic ENSG00000141646.14 . frameshift deletion ENSG00000141646.14:ENST00000342988.8:exon3:c.275_276del:p.H92Rfs*11 18q21.2 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMAD4 418 0 609 137 0.183646112600536 TRUE TRUE ENSG00000172000.7 . BCM GRCh38.p13 chr19 2877334 2877334 + T T C Missense_Mutation SNP ENST00000307635.3 exon4 c.T376C p.F126L exonic ENSG00000172000.7 . nonsynonymous SNV ENSG00000172000.7:ENST00000307635.3:exon4:c.T376C:p.F126L 19p13.3 C3L-01971 . . . . . . . . . 2.19 T T B B . N M T D 0.108 T T T 0.035 0.377 0.076 0.072 T T T T T T 0.507 6.580 0.830 N N -0.941 0.470 -1.091 0.385 0.000 0.487 0.574 0.547 0.564 . 2.270 -0.059 -0.246 -0.090 0.468 0.000 0.002 0.015 994 . . . . ZNF556 132 0 228 54 0.191489361702128 TRUE TRUE ENSG00000089847.12 . BCM GRCh38.p13 chr19 4219678 4219678 + C C T Missense_Mutation SNP ENST00000600132.5 exon19 c.C3091T p.R1031W exonic ENSG00000089847.12 . nonsynonymous SNV ENSG00000089847.12:ENST00000600132.5:exon19:c.C3091T:p.R1031W 19p13.3 C3L-01971 3.344e-05 0.0003 0 0 0 0 0 6.089e-05 rs771211944 11.19 D D D D . N M T D 0.674 T T D 0.129 . 0.355 0.925 D T T T D D 3.734 25.500 0.999 D N 0.176 3.197 0.104 2.751 0.000 0.706 0.634 0.710 0.568 . 3.790 2.620 2.771 1.021 0.549 0.996 0.005 0.082 928 . . . ID=COSV53667982;OCCURENCE=1(oesophagus) ANKRD24 168 0 531 43 0.0749128919860627 TRUE TRUE ENSG00000129353.15 . BCM GRCh38.p13 chr19 10631065 10631065 + C C G Missense_Mutation SNP ENST00000335757.10 exon5 c.C254G p.P85R exonic ENSG00000129353.15 . nonsynonymous SNV ENSG00000129353.15:ENST00000335757.10:exon5:c.C254G:p.P85R 19p13.2 C3L-01971 . . . . . . . . . 12.20 D D P P D D M T D 0.596 T T D 0.276 0.529 0.625 0.658 T T D T D D 3.385 24.400 0.995 D D 0.543 5.384 0.521 5.358 1.000 0.707 0.725 0.644 0.714 . 4.690 4.690 5.566 1.011 0.582 0.977 0.677 0.975 814 . . . . SLC44A2 67 0 148 31 0.173184357541899 TRUE TRUE ENSG00000161270.19 . BCM GRCh38.p13 chr19 35845685 35845685 + C C A Missense_Mutation SNP ENST00000378910.9 exon13 c.G1741T p.D581Y exonic ENSG00000161270.19 . nonsynonymous SNV ENSG00000161270.19:ENST00000378910.9:exon13:c.G1741T:p.D581Y 19q13.12 C3L-01971 . . . . . . . . . 5.20 T T B B D D L T N 0.593 T T D 0.358 0.497 0.726 1.807 T T T T D T 3.685 25.300 0.968 D N -0.442 1.294 -0.261 1.646 1.000 0.598 0.563 0.666 0.639 . 5.140 5.140 1.267 0.868 0.511 1.000 0.998 0.784 824 Immunoglobulin_subtype_2;CD80-like,_immunoglobulin_C2-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . NPHS1 164 0 344 30 0.0802139037433155 TRUE TRUE ENSG00000170949.17 . BCM GRCh38.p13 chr19 53068768 53068768 + C C G Missense_Mutation SNP ENST00000429604.5 exon7 c.G1766C p.G589A exonic ENSG00000170949.17 . nonsynonymous SNV ENSG00000170949.17:ENST00000429604.5:exon7:c.G1766C:p.G589A 19q13.41 C3L-01971 . . . . . . . . . 6.19 D D D D . N L T D 0.198 T T T 0.111 0.461 0.375 0.841 T T T T D T 2.832 23.100 0.996 N N 0.002 2.518 -0.215 1.751 0.057 0.707 0.725 0.702 0.636 . 2.230 1.160 1.805 0.632 0.505 0.007 0.993 0.724 994 Zinc_finger_C2H2-type . . . ZNF160 128 0 253 64 0.201892744479495 TRUE TRUE ENSG00000083814.13 . BCM GRCh38.p13 chr19 57723241 57723241 + C C A Nonsense_Mutation SNP ENST00000317398.10 exon2 c.G238T p.E80X exonic ENSG00000083814.13 . stopgain ENSG00000083814.13:ENST00000317398.10:exon2:c.G238T:p.E80X 19q13.43 C3L-01971 . . . . . . . . . 3.5 . . . . . A . . . 0.070 . . . . . . . . . D D . . 5.173 33 0.994 N N 0.207 3.335 -0.197 1.793 0.000 0.672 0.702 0.651 0.492 . 1.250 0.119 0.765 -0.053 0.549 0.004 0.018 0.999 970 Krueppel-associated_box . . . ZNF671 57 0 97 27 0.217741935483871 TRUE TRUE ENSG00000124203.6 . BCM GRCh38.p13 chr20 59194719 59194719 + A A G Missense_Mutation SNP ENST00000637017.1 exon4 c.A3700G p.T1234A exonic ENSG00000124203.6 . nonsynonymous SNV ENSG00000124203.6:ENST00000637017.1:exon4:c.A3700G:p.T1234A 20q13.32 C3L-01971 . . . . . . . . . 0.20 T T B B N N L T N 0.069 T T T 0.035 0.098 0.055 0.208 T T T T T T 0.670 8.176 0.791 N N -0.922 0.493 -0.988 0.503 0.000 0.554 0.588 0.547 0.564 . 3.550 1.290 0.698 1.290 0.731 0.000 0.011 0.012 993 . . . . ZNF831 40 0 74 22 0.229166666666667 TRUE TRUE ENSG00000142207.7 . BCM GRCh38.p13 chr21 32363160 32363160 + C C A Missense_Mutation SNP ENST00000382751.4 exon11 c.G1505T p.S502I exonic ENSG00000142207.7 . nonsynonymous SNV ENSG00000142207.7:ENST00000382751.4:exon11:c.G1505T:p.S502I 21q22.11 C3L-01971 . . . . . . . . . 9.20 T D D P D D M T N 0.591 T T T 0.202 0.391 0.486 . T T T T D D 3.698 25.400 0.996 D D 0.533 5.300 0.521 5.353 1.000 0.707 0.654 0.725 0.714 . 5.380 4.470 7.169 1.026 0.599 1.000 1.000 0.968 921 . . . . URB1 72 1 141 42 0.229508196721311 TRUE TRUE ENSG00000258992.7 . BCM GRCh38.p13 chrY 9467440 9467440 + G G A Missense_Mutation SNP ENST00000451548.6 exon1 c.G440A p.R147H exonic ENSG00000258992.7 . nonsynonymous SNV ENSG00000258992.7:ENST00000451548.6:exon1:c.G440A:p.R147H Yp11.2 C3L-01971 . . . . . . . . . 2.16 T T P B . . L T D 0.083 T T D 0.041 . 0.193 . . T T T T T 0.493 6.432 0.977 N . . . . . 0.000 . . . . . . . -0.053 0.225 0.221 0.669 0.017 0.017 . . . . . TSPY1 187 0 326 27 0.0764872521246459 NA TRUE ENSG00000130779.20 . BCM GRCh38.p13 chr12 122328260 122328260 + C C A Splice_Site SNP NA NA NA NA splicing ENSG00000130779.20 ENST00000620786.4:exon16:c.3033+1G>T . . 12q24.31 C3L-01971 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.049 33 0.991 D . 0.982 13.367 0.791 9.852 1.000 0.156 0.156 0.126 0.235 0.960 5.250 5.250 4.037 1.026 0.599 1.000 0.953 0.562 653 . . . . CLIP1 87 0 231 30 0.114942528735632 TRUE TRUE ENSG00000163485.17 . BCM GRCh38.p13 chr1 203129136 203129136 + C C T Silent SNP ENST00000337894.9 exon3 c.C295T p.L99L exonic ENSG00000163485.17 . synonymous SNV ENSG00000163485.17:ENST00000337894.9:exon3:c.C295T:p.L99L 1q32.1 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADORA1 91 0 216 23 0.096234309623431 TRUE TRUE ENSG00000196878.15 . BCM GRCh38.p13 chr1 209634624 209634624 + G G A Silent SNP ENST00000356082.9 exon6 c.C387T p.A129A exonic ENSG00000196878.15 . synonymous SNV ENSG00000196878.15:ENST00000356082.9:exon6:c.C387T:p.A129A 1q32.2 C3L-01971 7.06e-05 0.0009 0 0 0 0 0 0 rs374988953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61919934;OCCURENCE=1(endometrium) LAMB3 273 0 450 112 0.199288256227758 TRUE TRUE ENSG00000115902.11 . BCM GRCh38.p13 chr2 65021113 65021113 + C C G Silent SNP ENST00000234256.4 exon8 c.C1566G p.A522A exonic ENSG00000115902.11 . synonymous SNV ENSG00000115902.11:ENST00000234256.4:exon8:c.C1566G:p.A522A 2p14 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC1A4 158 0 241 27 0.100746268656716 TRUE TRUE ENSG00000168356.12 . BCM GRCh38.p13 chr3 38897154 38897154 + G G T Silent SNP ENST00000668754.1 exon21 c.C2094A p.V698V exonic ENSG00000168356.12 . synonymous SNV ENSG00000168356.12:ENST00000668754.1:exon21:c.C2094A:p.V698V 3p22.2 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN11A 160 1 277 64 0.187683284457478 TRUE TRUE ENSG00000164050.13 . BCM GRCh38.p13 chr3 48419736 48419736 + G G A Silent SNP ENST00000296440.11 exon11 c.C2550T p.P850P exonic ENSG00000164050.13 . synonymous SNV ENSG00000164050.13:ENST00000296440.11:exon11:c.C2550T:p.P850P 3p21.31 C3L-01971 3.384e-05 0.0002 0 0 0 4.081e-05 0 0 rs774347842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLXNB1 107 0 319 33 0.09375 TRUE NA ENSG00000133401.16 . BCM GRCh38.p13 chr5 32090663 32090663 + C C T Silent SNP ENST00000438447.2 exon20 c.C7215T p.S2405S exonic ENSG00000133401.16 . synonymous SNV ENSG00000133401.16:ENST00000438447.2:exon20:c.C7215T:p.S2405S 5p13.3 C3L-01971 3.297e-05 0 0.0002 0 0 1.5e-05 0.0011 0 rs768918693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56876735;OCCURENCE=1(large_intestine) PDZD2 105 0 278 63 0.18475073313783 TRUE TRUE ENSG00000145794.17 . BCM GRCh38.p13 chr5 127438515 127438515 + C C T Silent SNP ENST00000503335.7 exon17 c.C2181T p.Y727Y exonic ENSG00000145794.17 . synonymous SNV ENSG00000145794.17:ENST00000503335.7:exon17:c.C2181T:p.Y727Y 5q23.2 C3L-01971 1.649e-05 0 0 0 0 3e-05 0 0 rs757670476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV57244980;OCCURENCE=1(oesophagus) MEGF10 184 0 338 29 0.0790190735694823 TRUE TRUE ENSG00000204767.4 . BCM GRCh38.p13 chr5 169883734 169883734 + G G A Silent SNP ENST00000377365.4 exon2 c.C165T p.D55D exonic ENSG00000204767.4 . synonymous SNV ENSG00000204767.4:ENST00000377365.4:exon2:c.C165T:p.D55D 5q35.1 C3L-01971 . . . . . . . . rs748170159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INSYN2B 86 1 195 35 0.152173913043478 TRUE NA ENSG00000113749.7 . BCM GRCh38.p13 chr5 175683989 175683989 + C C T Silent SNP ENST00000231683.3 exon1 c.C756T p.T252T exonic ENSG00000113749.7 . synonymous SNV ENSG00000113749.7:ENST00000231683.3:exon1:c.C756T:p.T252T 5q35.2 C3L-01971 0.0002 0 0 0.0003 0 0.0001 0 0.0007 rs199745107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99199547;OCCURENCE=1(endometrium) HRH2 364 0 734 143 0.163055872291904 TRUE NA ENSG00000157593.19 . BCM GRCh38.p13 chr6 44256429 44256429 + C C T Silent SNP ENST00000393812.4 exon3 c.G273A p.E91E exonic ENSG00000157593.19 . synonymous SNV ENSG00000157593.19:ENST00000393812.4:exon3:c.G273A:p.E91E 6p21.1 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC35B2 206 0 358 115 0.243128964059197 TRUE TRUE ENSG00000196876.18 . BCM GRCh38.p13 chr12 51706619 51706619 + G G A Silent SNP ENST00000354534.11 exon11 c.G1539A p.E513E exonic ENSG00000196876.18 . synonymous SNV ENSG00000196876.18:ENST00000354534.11:exon11:c.G1539A:p.E513E 12q13.13 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCN8A 92 0 149 66 0.306976744186047 TRUE TRUE ENSG00000167780.12 . BCM GRCh38.p13 chr12 53123164 53123164 + C C T Silent SNP ENST00000301466.8 exon13 c.C1320T p.F440F exonic ENSG00000167780.12 . synonymous SNV ENSG00000167780.12:ENST00000301466.8:exon13:c.C1320T:p.F440F 12q13.13 C3L-01971 . . . . . . . . rs201335480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56859558;OCCURENCE=1(skin),1(upper_aerodigestive_tract) SOAT2 207 0 383 185 0.325704225352113 TRUE TRUE ENSG00000188596.11 . BCM GRCh38.p13 chr12 96623802 96623802 + A A G Silent SNP ENST00000524981.9 exon28 c.A3807G p.P1269P exonic ENSG00000188596.11 . synonymous SNV ENSG00000188596.11:ENST00000524981.9:exon28:c.A3807G:p.P1269P 12q23.1 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP54 136 0 291 45 0.133928571428571 TRUE TRUE ENSG00000100505.13 . BCM GRCh38.p13 chr14 50981871 50981871 + G G A Silent SNP ENST00000298355.7 exon8 c.C1836T p.D612D exonic ENSG00000100505.13 . synonymous SNV ENSG00000100505.13:ENST00000298355.7:exon8:c.C1836T:p.D612D 14q22.1 C3L-01971 8.236e-06 9.61e-05 0 0 0 0 0 0 rs757270399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53624076;OCCURENCE=1(stomach),1(endometrium) TRIM9 283 0 636 60 0.0862068965517241 TRUE TRUE ENSG00000054690.14 . BCM GRCh38.p13 chr14 67562735 67562735 + T T G Silent SNP ENST00000329153.10 exon7 c.T1104G p.A368A exonic ENSG00000054690.14 . synonymous SNV ENSG00000054690.14:ENST00000329153.10:exon7:c.T1104G:p.A368A 14q24.1 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHH1 257 0 521 114 0.179527559055118 TRUE TRUE ENSG00000211972.2 . BCM GRCh38.p13 chr14 106675299 106675299 + C C T Silent SNP ENST00000390632.2 exon2 c.G66A p.Q22Q exonic ENSG00000211972.2 . synonymous SNV ENSG00000211972.2:ENST00000390632.2:exon2:c.G66A:p.Q22Q 14q32.33 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGHV3-66 247 1 511 92 0.15257048092869 NA TRUE ENSG00000082641.16 . BCM GRCh38.p13 chr17 48059590 48059590 + C C T Silent SNP ENST00000362042.8 exon6 c.C2268T p.A756A exonic ENSG00000082641.16 . synonymous SNV ENSG00000082641.16:ENST00000362042.8:exon6:c.C2268T:p.A756A 17q21.32 C3L-01971 0.0093 0.0008 0.0008 0 0.0706 0.0088 0.0146 0.0008 rs143499120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFE2L1 39 0 89 9 0.0918367346938776 TRUE NA ENSG00000100228.12 . BCM GRCh38.p13 chr22 23145548 23145548 + G G T Silent SNP ENST00000263116.6 exon1 c.G183T p.S61S exonic ENSG00000100228.12 . synonymous SNV ENSG00000100228.12:ENST00000263116.6:exon1:c.G183T:p.S61S 22q11.23 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAB36 78 1 130 44 0.252873563218391 TRUE TRUE ENSG00000100241.21 . BCM GRCh38.p13 chr22 50464849 50464849 + G G A Silent SNP ENST00000348911.10 exon13 c.C1404T p.V468V exonic ENSG00000100241.21 . synonymous SNV ENSG00000100241.21:ENST00000348911.10:exon13:c.C1404T:p.V468V 22q13.33 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SBF1 151 0 382 35 0.0839328537170264 TRUE TRUE ENSG00000185960.14 . BCM GRCh38.p13 chrX 634820 634820 + C C T Silent SNP ENST00000381578.6 exon3 c.C480T p.R160R exonic ENSG00000185960.14 . synonymous SNV ENSG00000185960.14:ENST00000381578.6:exon3:c.C480T:p.R160R Xp22.33 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHOX 179 1 337 92 0.214452214452214 TRUE TRUE ENSG00000174175.17 . BCM GRCh38.p13 chr1 169630076 169630076 + T T C 5'UTR SNP NA NA NA NA UTR5 ENSG00000174175.17 ENST00000263686.11:c.-2A>G . . 1q24.2 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SELP 163 0 335 30 0.0821917808219178 TRUE NA ENSG00000163531.15 . BCM GRCh38.p13 chr1 205016621 205016621 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000163531.15 ENST00000339876.10:c.*82G>A . . 1q32.1 C3L-01971 0.0002 0.0005 0 0 0 0.0003 0 9.747e-05 rs541890830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58370252;OCCURENCE=1(skin) NFASC 197 0 363 88 0.195121951219512 TRUE NA ENSG00000118960.13 . BCM GRCh38.p13 chr2 20640916 20640916 + C C T Intron SNP NA NA NA NA intronic ENSG00000118960.13 . . . 2p24.1 C3L-01971 8.603e-06 0 0 0 0 0 0 7.322e-05 rs771649844 1.14 D . B B . N . . N 0.060 T T T 0.055 0.122 0.124 . . . T T T T -0.972 0.009 0.290 N N -1.784 0.025 -1.962 0.016 1.000 0.554 0.588 0.576 0.509 . 3.710 -7.420 -4.833 -0.847 -0.876 0.000 0.000 0.000 850 . . . ID=COSV58313647;OCCURENCE=1(large_intestine),1(central_nervous_system) HS1BP3 73 0 127 34 0.211180124223602 TRUE NA ENSG00000047849.21 . BCM GRCh38.p13 chr3 47911566 47911568 + AAG AAG - Intron DEL NA NA NA NA intronic ENSG00000047849.21 . . . 3p21.31 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP4 154 0 269 51 0.159375 TRUE NA ENSG00000181195.11 . BCM GRCh38.p13 chr8 56444019 56444019 + C C T Intron SNP NA NA NA NA intronic ENSG00000181195.11 . . . 8q12.1 C3L-01971 . . . . . . . . . 0.13 T T . . . N . . N 0.050 T T T 0.058 0.374 0.113 . . . T T T T 0.221 3.367 0.856 N N -0.672 0.861 -0.890 0.634 0.000 0.497 0.590 0.563 0.542 . 2.960 -1.140 -0.545 -0.006 0.599 0.000 0.004 0.109 759 . . . . PENK 68 0 200 55 0.215686274509804 TRUE TRUE ENSG00000046889.19 . BCM GRCh38.p13 chr8 67952568 67952568 + C C T Intron SNP NA NA NA NA intronic ENSG00000046889.19 . . . 8q13.2 C3L-01971 2.008e-05 0 0 0 0 3.78e-05 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55756819;OCCURENCE=1(large_intestine) PREX2 197 1 494 130 0.208333333333333 TRUE NA ENSG00000079102.16 . BCM GRCh38.p13 chr8 91979826 91979826 + T T C Intron SNP NA NA NA NA intronic ENSG00000079102.16 . . . 8q21.3 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RUNX1T1 152 0 250 66 0.208860759493671 TRUE NA ENSG00000184428.13 . BCM GRCh38.p13 chr8 143328302 143328302 + G G A Intron SNP NA NA NA NA intronic ENSG00000184428.13 . . . 8q24.3 C3L-01971 . . . . . . . . rs921883903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOP1MT 159 0 380 32 0.0776699029126214 TRUE NA ENSG00000280486.2 . BCM GRCh38.p13 chr19 1388972 1388972 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000280486.2 . . . 19p13.3 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC005329.3 162 0 351 82 0.189376443418014 TRUE NA ENSG00000198223.16 . BCM GRCh38.p13 chrX 1268852 1268852 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000198223.16 ENST00000381524.8:c.-13852G>A . . Xp22.33 C3L-01971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSF2RA 245 0 540 40 0.0689655172413793 TRUE NA ENSG00000162490.7 . BCM GRCh38.p13 chr1 11709328 11709328 + G G A Missense_Mutation SNP ENST00000294485.6 exon3 c.G505A p.E169K exonic ENSG00000162490.7 . nonsynonymous SNV ENSG00000162490.7:ENST00000294485.6:exon3:c.G505A:p.E169K 1p36.22 C3L-02604 8.588e-06 9.954e-05 0 0 0 0 0 0 rs762451052 3.20 T T D B N D L T N 0.260 T T T 0.150 . 0.377 0.275 T T T T T T 1.826 17.930 0.996 D N 0.055 2.711 0.068 2.608 1.000 0.696 0.547 0.723 0.605 . 5.420 4.510 1.985 1.176 0.676 0.865 0.039 0.082 878 . . . . DRAXIN 145 0 233 95 0.289634146341463 TRUE NA ENSG00000162599.17 . BCM GRCh38.p13 chr1 61406638 61406638 + C C T Missense_Mutation SNP ENST00000403491.8 exon9 c.C1331T p.P444L exonic ENSG00000162599.17 . nonsynonymous SNV ENSG00000162599.17:ENST00000403491.8:exon9:c.C1331T:p.P444L 1p31.3 C3L-02604 8.606e-06 0 0 0 0 0 0 6.378e-05 rs761025450 14.20 D D D D D D M T D 0.815 T T D 0.249 . 0.459 1.888 D T T T D D 4.034 27.200 0.999 D D 0.779 8.387 0.791 9.864 1.000 0.563 0.590 0.618 0.636 . 5.990 5.990 7.384 1.026 0.599 1.000 0.943 0.987 957 . . . ID=COSV63607764;OCCURENCE=1(large_intestine) NFIA 173 0 255 81 0.241071428571429 TRUE TRUE ENSG00000143067.5 . BCM GRCh38.p13 chr1 119623436 119623436 + C C T Missense_Mutation SNP ENST00000421812.3 exon3 c.G907A p.D303N exonic ENSG00000143067.5 . nonsynonymous SNV ENSG00000143067.5:ENST00000421812.3:exon3:c.G907A:p.D303N 1p12 C3L-02604 . . . . . . . . . 3.19 T T D P . N N T N 0.106 T T D 0.095 0.236 0.055 0.641 D T T T T T 1.605 16.400 0.916 N N -0.585 1.015 -0.640 0.987 1.000 0.701 0.546 0.717 0.636 . 4.230 3.320 -1.033 0.085 -0.393 0.000 0.005 0.001 665 Zinc_finger_C2H2-type . . . ZNF697 236 0 334 108 0.244343891402715 TRUE TRUE ENSG00000143847.15 . BCM GRCh38.p13 chr1 203043962 203043962 + C C G Missense_Mutation SNP ENST00000447715.6 exon8 c.C368G p.S123C exonic ENSG00000143847.15 . nonsynonymous SNV ENSG00000143847.15:ENST00000447715.6:exon8:c.C368G:p.S123C 1q32.1 C3L-02604 . . . . . . . . . 12.18 D D . . D D M T D 0.698 T T D 0.380 0.259 0.720 . D T T T D D 3.866 26.200 0.994 D D 0.744 7.783 0.734 8.433 1.000 0.706 0.710 0.659 0.542 . 4.870 4.870 7.905 1.026 0.599 1.000 1.000 0.999 734 . . . . PPFIA4 68 0 126 41 0.245508982035928 TRUE TRUE ENSG00000135801.9 . BCM GRCh38.p13 chr1 229602637 229602637 + C C T Missense_Mutation SNP ENST00000258281.6 exon4 c.G530A p.R177H exonic ENSG00000135801.9 . nonsynonymous SNV ENSG00000135801.9:ENST00000258281.6:exon4:c.G530A:p.R177H 1q42.13 C3L-02604 8.237e-06 0 0 0 0 0 0 6.056e-05 rs762046097 13.20 D T D D D D M T D 0.831 T T D 0.377 0.753 0.507 0.471 T T D D D T 4.084 27.600 1.000 D D 0.681 6.858 0.723 8.197 1.000 0.707 0.702 0.725 0.714 . 5.690 5.690 7.552 1.026 0.599 1.000 1.000 1.000 517 TFIID_subunit_TAF5,_NTD2_domain . . . TAF5L 243 0 312 85 0.214105793450882 TRUE NA ENSG00000115705.22 . BCM GRCh38.p13 chr2 1504038 1504038 + C C T Missense_Mutation SNP ENST00000329066.9 exon14 c.C2477T p.A826V exonic ENSG00000115705.22 . nonsynonymous SNV ENSG00000115705.22:ENST00000329066.9:exon14:c.C2477T:p.A826V 2p25.3 C3L-02604 8.247e-06 0 0 0 0 1.5e-05 0 0 rs748124213 5.20 D D P B N N N D N 0.163 T T D 0.248 . 0.766 0.163 T D T T T T 0.849 9.890 0.973 N N -0.950 0.460 -1.040 0.441 0.802 0.487 0.574 0.547 0.613 . 4.400 1.480 0.200 -1.562 -0.262 0.000 0.000 0.001 900 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . ID=COSV61095654;OCCURENCE=1(large_intestine),2(stomach) TPO 412 0 594 181 0.233548387096774 TRUE TRUE ENSG00000188177.14 . BCM GRCh38.p13 chr2 112322887 112322887 + A A G Missense_Mutation SNP ENST00000409871.6 exon9 c.A1325G p.H442R exonic ENSG00000188177.14 . nonsynonymous SNV ENSG00000188177.14:ENST00000409871.6:exon9:c.A1325G:p.H442R 2q14.1 C3L-02604 . . . . . . . . . 7.20 D T P B D D L T N 0.277 T T T 0.200 0.437 0.139 0.305 T T T T D D 3.092 23.600 0.989 D D 0.437 4.578 0.527 5.413 1.000 0.638 0.670 0.659 0.568 . 5.430 5.430 8.639 1.295 0.756 1.000 1.000 0.999 934 . . . . ZC3H6 72 0 101 44 0.303448275862069 TRUE TRUE ENSG00000168702.18 . BCM GRCh38.p13 chr2 140903028 140903028 + T T A Missense_Mutation SNP ENST00000389484.8 exon23 c.A3658T p.N1220Y exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon23:c.A3658T:p.N1220Y 2q22.1 C3L-02604 . . . . . . . . . 7.20 D D B B N N L D N 0.211 T D D 0.212 0.489 0.316 0.611 T T T T D T 2.302 21.600 0.976 D N -0.577 1.030 -0.554 1.116 0.000 0.487 0.574 0.547 0.564 . 5.530 3.020 0.930 0.133 0.665 0.685 0.411 0.952 934 EGF-like_domain . . . LRP1B 224 0 366 60 0.140845070422535 TRUE TRUE ENSG00000119041.11 . BCM GRCh38.p13 chr2 196772918 196772918 + G G C Missense_Mutation SNP ENST00000263956.8 exon14 c.C2067G p.I689M exonic ENSG00000119041.11 . nonsynonymous SNV ENSG00000119041.11:ENST00000263956.8:exon14:c.C2067G:p.I689M 2q33.1 C3L-02604 . . . . . . . . . 9.20 D D D P D D L T N 0.847 T T T 0.163 0.378 0.672 1.161 T T T T D D 4.198 28.600 0.997 D D 0.428 4.524 0.465 4.854 0.745 0.707 0.725 0.725 0.714 . 4.750 4.750 4.903 1.176 0.676 1.000 0.999 0.975 240 . . . . GTF3C3 37 0 54 10 0.15625 TRUE TRUE ENSG00000116117.18 . BCM GRCh38.p13 chr2 205615578 205615578 + G G A Missense_Mutation SNP ENST00000406610.7 exon23 c.G3383A p.R1128H exonic ENSG00000116117.18 . nonsynonymous SNV ENSG00000116117.18:ENST00000406610.7:exon23:c.G3383A:p.R1128H 2q33.3 C3L-02604 6.63e-05 0.0002 8.645e-05 0.0006 0 0 0 0 rs200129953 0.20 T T B B N N L T N 0.278 T T T 0.066 . 0.389 0.024 T T T T T T 1.910 18.570 0.943 N N -0.612 0.966 -0.592 1.059 0.266 0.615 0.590 0.659 0.580 . 5.750 3.870 3.122 1.106 0.596 0.823 0.499 0.032 882 . . . . PARD3B 151 0 228 90 0.283018867924528 TRUE NA ENSG00000055955.17 . BCM GRCh38.p13 chr3 52823675 52823675 + C C T Missense_Mutation SNP ENST00000266041.9 exon11 c.G1420A p.V474M exonic ENSG00000055955.17 . nonsynonymous SNV ENSG00000055955.17:ENST00000266041.9:exon11:c.G1420A:p.V474M 3p21.1 C3L-02604 4.945e-05 0.0003 0 0.0001 0 2.999e-05 0 0 rs201445354 13.20 D D D D D D H T D 0.313 T T D 0.314 . 0.437 0.956 T D T T D D 3.062 23.500 0.999 N D 0.398 4.329 0.214 3.254 1.000 0.615 0.588 0.659 0.621 . 4.560 4.560 1.033 1.026 0.599 0.215 0.223 0.334 82 . . . . ITIH4 282 1 394 121 0.23495145631068 TRUE NA ENSG00000144802.11 . BCM GRCh38.p13 chr3 101859324 101859324 + C C G Missense_Mutation SNP ENST00000326172.9 exon12 c.C2110G p.R704G exonic ENSG00000144802.11 . nonsynonymous SNV ENSG00000144802.11:ENST00000326172.9:exon12:c.C2110G:p.R704G 3q12.3 C3L-02604 . . . . . . . . . 16.20 D D D D D D M T D 0.763 T T D 0.315 0.595 0.383 0.533 T D D D D D 3.456 24.600 0.998 D D 0.195 3.282 0.223 3.297 1.000 0.722 0.699 0.725 0.711 . 5.530 3.620 3.065 -0.244 -0.226 1.000 0.994 0.981 874 . . . ID=COSV100396872;OCCURENCE=1(biliary_tract) NFKBIZ 244 0 307 85 0.216836734693878 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-02604 . . . . . . . . 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 106 0 204 54 0.209302325581395 NA TRUE ENSG00000178597.7 . BCM GRCh38.p13 chr4 7434347 7434347 + G G A Missense_Mutation SNP ENST00000319098.7 exon1 c.C533T p.A178V exonic ENSG00000178597.7 . nonsynonymous SNV ENSG00000178597.7:ENST00000319098.7:exon1:c.C533T:p.A178V 4p16.1 C3L-02604 1.061e-05 0 0 0 0 1.904e-05 0 0 rs763107725 0.19 T T B B . N N T N 0.013 T T T 0.031 . 0.391 0.026 T T T T T T -0.454 0.148 0.807 N N -1.931 0.013 -1.980 0.015 1.000 0.487 0.574 0.547 0.613 . 3.470 -6.940 -0.609 -0.450 -1.442 0.000 0.000 0.000 994 . . . . PSAPL1 189 1 306 94 0.235 TRUE NA ENSG00000145375.8 . BCM GRCh38.p13 chr4 123256125 123256125 + A A G Missense_Mutation SNP ENST00000274008.5 exon15 c.A2450G p.N817S exonic ENSG00000145375.8 . nonsynonymous SNV ENSG00000145375.8:ENST00000274008.5:exon15:c.A2450G:p.N817S 4q28.1 C3L-02604 . . . . . . . . . 3.19 T T B B N N . D N 0.125 T T D 0.173 0.429 0.709 0.113 T T T T T D 0.571 7.225 0.573 N N -1.073 0.331 -1.036 0.445 0.094 0.693 0.634 0.659 0.655 . 4.870 0.948 1.444 1.312 0.756 0.007 0.095 0.025 127 . . . . SPATA5 172 0 260 68 0.207317073170732 TRUE TRUE ENSG00000039139.9 . BCM GRCh38.p13 chr5 13810124 13810124 + G G A Missense_Mutation SNP ENST00000265104.4 exon45 c.C7544T p.T2515M exonic ENSG00000039139.9 . nonsynonymous SNV ENSG00000039139.9:ENST00000265104.4:exon45:c.C7544T:p.T2515M 5p15.2 C3L-02604 . . . . . . . . . 0.19 T . B B N N L T N 0.144 T T T 0.086 0.272 0.478 0.392 T T T T T T 1.142 13.150 0.920 N N -0.798 0.657 -0.861 0.673 0.001 0.487 0.574 0.547 0.613 . 5.100 0.471 0.791 0.980 0.674 0.000 0.001 0.034 684 . . . ID=COSV54224881;OCCURENCE=1(large_intestine),1(stomach) DNAH5 264 0 395 132 0.250474383301708 TRUE TRUE ENSG00000040731.10 . BCM GRCh38.p13 chr5 24537485 24537485 + C C A Nonsense_Mutation SNP ENST00000264463.8 exon3 c.G421T p.E141X exonic ENSG00000040731.10 . stopgain ENSG00000040731.10:ENST00000264463.8:exon3:c.G421T:p.E141X 5p14.2 C3L-02604 . . . . . . . . . 5.6 . . . . D A . . . 0.429 . . . . . . . . . D D . . 7.118 37 0.998 D N 1.212 24.837 1.082 25.101 1.000 0.487 0.574 0.574 0.564 . 5.820 5.820 7.905 1.015 0.599 1.000 0.999 0.993 783 Cadherin-like . . ID=COSV100050671;OCCURENCE=1(stomach) CDH10 353 0 470 130 0.216666666666667 TRUE TRUE ENSG00000204516.10 . BCM GRCh38.p13 chr6 31509908 31509908 + A A C Nonstop_Mutation SNP ENST00000252229.7 exon6 c.A1151C p.X384S exonic ENSG00000204516.10 . stoploss ENSG00000204516.10:ENST00000252229.7:exon6:c.A1151C:p.X384S 6p21.33 C3L-02604 . . . . . . . . . 0.4 . . . . . N . . . 0.213 . . . . . . . . . T T . . -0.320 0.284 0.699 N . 0.047 2.684 -0.394 1.384 0.186 0.295 0.272 0.320 0.323 0.050 1.310 1.310 -0.389 0.636 0.393 0.000 0.005 0.009 934 . . . . MICB 71 0 94 30 0.241935483870968 TRUE TRUE ENSG00000112164.6 . BCM GRCh38.p13 chr6 39072920 39072920 + C C T Nonsense_Mutation SNP ENST00000373256.5 exon6 c.C568T p.R190X exonic ENSG00000112164.6 . stopgain ENSG00000112164.6:ENST00000373256.5:exon6:c.C568T:p.R190X 6p21.2 C3L-02604 8.237e-06 0 0 0 0 1.498e-05 0 0 rs763103077 5.6 . . . . D A . . . 0.953 . . . . . . . . . D D . . 7.675 39 0.998 D N 0.268 3.617 0.087 2.681 0.999 0.653 0.563 0.676 0.530 . 5.710 3.900 1.200 0.129 -0.218 0.677 0.990 0.986 780 GPCR,_family_2-like . . ID=COSV100952773;OCCURENCE=1(endometrium) GLP1R 185 0 274 93 0.253405994550409 TRUE NA ENSG00000010810.17 . BCM GRCh38.p13 chr6 111694504 111694504 + C C A Nonsense_Mutation SNP ENST00000354650.7 exon12 c.G1144T p.E382X exonic ENSG00000010810.17 . stopgain ENSG00000010810.17:ENST00000354650.7:exon12:c.G1144T:p.E382X 6q21 C3L-02604 . . . . . . . . . 5.6 . . . . D A . . . 0.986 . . . . . . . . . D D . . 8.084 41 0.998 D N 1.243 28.311 1.115 28.870 1.000 0.722 0.725 0.725 0.735 . 5.950 5.950 7.905 1.026 0.599 1.000 0.999 0.996 173 Tyrosine-protein_kinase,_catalytic_domain;Protein_kinase_domain;Serine-threonine/tyrosine-protein_kinase,_catalytic_domain . . . FYN 130 0 197 85 0.301418439716312 TRUE TRUE ENSG00000106571.14 . BCM GRCh38.p13 chr7 42026344 42026344 + C C T Missense_Mutation SNP ENST00000395925.8 exon8 c.G1097A p.R366Q exonic ENSG00000106571.14 . nonsynonymous SNV ENSG00000106571.14:ENST00000395925.8:exon8:c.G1097A:p.R366Q 7p14.1 C3L-02604 8.272e-06 0 0 0 0 1.501e-05 0 0 rs774754578 7.20 T T B B D D N T N 0.672 T T D 0.222 0.323 0.513 0.661 T T T T D D 2.284 21.500 0.864 D D 0.091 2.852 0.298 3.703 1.000 0.644 0.590 0.688 0.636 . 5.900 5.900 7.347 1.025 0.599 1.000 1.000 0.995 905 . . . ID=COSV67889423;OCCURENCE=1(endometrium) GLI3 707 2 961 248 0.205128205128205 TRUE TRUE ENSG00000015520.14 . BCM GRCh38.p13 chr7 44522066 44522067 + TG TG - Frame_Shift_Del DEL ENST00000289547.8 exon11 c.2813_2814del p.T938Rfs*4 exonic ENSG00000015520.14 . frameshift deletion ENSG00000015520.14:ENST00000289547.8:exon11:c.2813_2814del:p.T938Rfs*4 7p13 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NPC1L1 179 0 235 80 0.253968253968254 TRUE TRUE ENSG00000009950.16 . BCM GRCh38.p13 chr7 73597395 73597395 + T T G Missense_Mutation SNP ENST00000313375.8 exon9 c.A1390C p.S464R exonic ENSG00000009950.16 . nonsynonymous SNV ENSG00000009950.16:ENST00000313375.8:exon9:c.A1390C:p.S464R 7q11.23 C3L-02604 . . . . . . . . . 0.20 T T B B N N N T N 0.169 T T T 0.017 . 0.043 0.104 T T T T T T 0.303 4.330 0.164 N N -1.226 0.209 -1.229 0.260 0.232 0.646 0.574 0.645 0.563 . 3.900 1.970 0.276 -0.019 -0.352 0.023 0.047 0.004 900 . . . . MLXIPL 10 0 15 8 0.347826086956522 TRUE NA ENSG00000006453.14 . BCM GRCh38.p13 chr7 98307735 98307735 + C C T Missense_Mutation SNP ENST00000005260.9 exon10 c.G1117A p.E373K exonic ENSG00000006453.14 . nonsynonymous SNV ENSG00000006453.14:ENST00000005260.9:exon10:c.G1117A:p.E373K 7q21.3 C3L-02604 . . . . . . . . . 12.20 D D D D D D L T D 0.612 T T D 0.351 0.713 0.799 0.776 T T T T D D 4.185 28.500 0.999 D D 0.667 6.683 0.657 7.020 1.000 0.719 0.723 0.723 0.646 . 4.870 4.870 7.503 1.026 0.599 1.000 0.988 0.909 799 SH3_domain;IRTKS,_SH3_domain . . ID=COSV50056804;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) BAIAP2L1 331 0 430 135 0.238938053097345 TRUE TRUE ENSG00000008311.15 . BCM GRCh38.p13 chr7 122133591 122133591 + G G T Missense_Mutation SNP ENST00000417368.7 exon2 c.C136A p.H46N exonic ENSG00000008311.15 . nonsynonymous SNV ENSG00000008311.15:ENST00000417368.7:exon2:c.C136A:p.H46N 7q31.32 C3L-02604 . . . . . . . . . 10.20 T T P P D D L T D 0.866 T T D 0.499 0.591 0.906 0.661 T D D T D D 3.282 24.100 0.986 D D 0.584 5.766 0.638 6.727 1.000 0.706 0.670 0.696 0.613 . 5.320 5.320 9.904 1.175 0.676 1.000 0.956 0.969 609 Alanine_dehydrogenase/pyridine_nucleotide_transhydrogenase,_N-terminal . . . AASS 557 0 825 266 0.243813015582035 TRUE TRUE ENSG00000147485.13 . BCM GRCh38.p13 chr8 51472280 51472280 + G G A Missense_Mutation SNP ENST00000356297.5 exon8 c.C719T p.P240L exonic ENSG00000147485.13 . nonsynonymous SNV ENSG00000147485.13:ENST00000356297.5:exon8:c.C719T:p.P240L 8q11.22 C3L-02604 1.657e-05 0 0.0002 0 0 0 0 0 rs760527870 10.19 D D D D . D L T D 0.638 T T T 0.405 0.729 0.544 0.556 T T T T D D 3.409 24.400 0.998 D D 0.437 4.583 0.308 3.763 0.971 0.554 0.574 0.618 0.564 . 3.840 3.840 8.547 1.006 0.618 1.000 0.046 0.396 912 Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . ID=COSV62488380;OCCURENCE=1(breast),1(large_intestine),1(lung) PXDNL 127 0 163 38 0.189054726368159 TRUE TRUE ENSG00000176571.12 . BCM GRCh38.p13 chr8 87284765 87284765 + G G A Missense_Mutation SNP ENST00000518476.6 exon7 c.G859A p.D287N exonic ENSG00000176571.12 . nonsynonymous SNV ENSG00000176571.12:ENST00000518476.6:exon7:c.G859A:p.D287N 8q21.3 C3L-02604 9.566e-05 0.0007 0 0 0 5.963e-05 0 0 rs370856044 6.20 T T D P N N L D N 0.248 D D D 0.257 . 0.374 0.008 T T T T T T 2.561 22.600 0.995 D N 0.273 3.641 0.178 3.076 0.016 0.487 0.574 0.574 0.564 . 5.250 5.250 2.351 1.121 0.618 0.845 0.320 0.320 656 . . . ID=COSV73072544;OCCURENCE=1(stomach),4(skin) CNBD1 135 0 179 49 0.214912280701754 TRUE TRUE ENSG00000122728.6 . BCM GRCh38.p13 chr9 32633406 32633406 + C C T Missense_Mutation SNP ENST00000242310.4 exon1 c.G2174A p.R725Q exonic ENSG00000122728.6 . nonsynonymous SNV ENSG00000122728.6:ENST00000242310.4:exon1:c.G2174A:p.R725Q 9p21.1 C3L-02604 1.647e-05 0 0 0 0 2.997e-05 0 0 rs145899352 10.20 D D D D D D M T D 0.107 T T T 0.208 . 0.503 0.372 T T T T D D 2.850 23.100 0.999 N N 0.137 3.035 -0.107 2.026 0.064 0.706 0.659 0.710 0.613 . 0.633 -0.574 0.829 0.275 0.240 1.000 0.928 0.833 835 Transcription_initiation_factor_TFIID_subunit_1,_domain_of_unknown_function . . ID=COSV54262132;OCCURENCE=1(lung) TAF1L 366 0 338 172 0.337254901960784 TRUE TRUE ENSG00000137094.14 . BCM GRCh38.p13 chr9 34996579 34996579 + C C T Missense_Mutation SNP ENST00000545841.5 exon3 c.C526T p.R176W exonic ENSG00000137094.14 . nonsynonymous SNV ENSG00000137094.14:ENST00000545841.5:exon3:c.C526T:p.R176W 9p13.3 C3L-02604 . . . . . . . . . 10.20 T T D B N D M D N 0.434 T T D 0.437 0.525 0.875 1.040 D T T T D D 2.393 22.100 0.998 D D 0.029 2.618 0.026 2.449 1.000 0.707 0.634 0.698 0.714 . 5.110 0.996 1.110 1.026 0.599 1.000 1.000 1.000 139 Chaperone_DnaJ,_C-terminal . . ID=COSV100257705;OCCURENCE=1(biliary_tract) DNAJB5 405 1 637 332 0.342621259029928 TRUE NA ENSG00000157654.19 . BCM GRCh38.p13 chr9 110136527 110136527 + C C T Missense_Mutation SNP ENST00000259318.7 exon2 c.C290T p.A97V exonic ENSG00000157654.19 . nonsynonymous SNV ENSG00000157654.19:ENST00000259318.7:exon2:c.C290T:p.A97V 9q31.3 C3L-02604 7.419e-05 0 0.0003 0 0 0 0 0.0004 rs147894013 0.20 T T B B N N L T N 0.096 T T T 0.123 . 0.153 0.083 T T T T T T 0.634 7.839 0.930 N N -0.833 0.609 -0.791 0.770 1.000 0.722 0.702 0.710 0.735 . 6.170 4.290 0.482 -0.215 0.599 0.000 0.000 0.001 917 . . . ID=COSV52179816;OCCURENCE=1(upper_aerodigestive_tract) PALM2AKAP2 182 0 285 109 0.276649746192893 TRUE TRUE ENSG00000148204.12 . BCM GRCh38.p13 chr9 123367210 123367210 + T T C Missense_Mutation SNP ENST00000373631.8 exon5 c.T793C p.C265R exonic ENSG00000148204.12 . nonsynonymous SNV ENSG00000148204.12:ENST00000373631.8:exon5:c.T793C:p.C265R 9q33.3 C3L-02604 . . . . . . . . . 20.20 D D D D D D H D D 0.980 D D D 0.908 0.959 0.993 0.505 D D D D D D 4.010 27.000 0.996 D D 0.836 9.532 0.680 7.392 1.000 0.646 0.541 0.645 0.563 . 5.100 5.100 7.699 1.127 0.640 1.000 0.952 0.304 373 EGF-like_domain;EGF-like_calcium-binding_domain . . . CRB2 133 0 198 67 0.252830188679245 TRUE TRUE ENSG00000260314.3 . BCM GRCh38.p13 chr10 17856260 17856260 + C C T Missense_Mutation SNP ENST00000569591.3 exon9 c.C1426T p.R476W exonic ENSG00000260314.3 . nonsynonymous SNV ENSG00000260314.3:ENST00000569591.3:exon9:c.C1426T:p.R476W 10p12.33 C3L-02604 0 0 0 0 0 0 0 0 rs782693726 5.20 T T D D U N L T D 0.172 T T T 0.150 0.750 0.213 . T T T T D D 2.415 22.100 0.998 N N -0.226 1.804 -0.374 1.419 0.000 0.554 0.574 0.574 0.621 . 4.580 2.540 -0.254 0.074 0.599 0.000 0.097 0.526 923 C-type_lectin-like;C-type_lectin,_conserved_site . . . MRC1 529 0 694 196 0.220224719101124 TRUE NA ENSG00000177354.12 . BCM GRCh38.p13 chr10 49326721 49326721 + C C A Nonsense_Mutation SNP ENST00000374144.8 exon3 c.C4176A p.C1392X exonic ENSG00000177354.12 . stopgain ENSG00000177354.12:ENST00000374144.8:exon3:c.C4176A:p.C1392X 10q11.23 C3L-02604 . . . . . . . . . 3.6 . . . . U D . . . 0.047 . . . . . . . . . D D . . 6.456 36 0.970 N N -0.022 2.435 -0.421 1.335 0.619 0.487 0.590 0.547 0.564 . 5.320 -3.250 -0.412 0.138 0.544 0.000 0.001 0.036 894 . . . . C10orf71 357 0 498 177 0.262222222222222 TRUE TRUE ENSG00000204033.10 . BCM GRCh38.p13 chr10 84225450 84225450 + C C A Missense_Mutation SNP ENST00000372113.7 exon1 c.G71T p.C24F exonic ENSG00000204033.10 . nonsynonymous SNV ENSG00000204033.10:ENST00000372113.7:exon1:c.G71T:p.C24F 10q23.1 C3L-02604 . . . . . . . . . 16.20 D D D D D D M T D 0.569 D D D 0.632 0.735 0.648 0.021 T T D D D T 2.947 23.300 0.990 D D 0.453 4.689 0.334 3.920 0.779 0.497 0.590 0.547 0.613 . 5.870 4.960 3.330 1.026 0.599 1.000 0.789 0.785 930 Proteinase_inhibitor_I2,_Kunitz,_conserved_site . . . LRIT2 169 1 238 77 0.244444444444444 TRUE TRUE ENSG00000148848.14 . BCM GRCh38.p13 chr10 126101214 126101214 + C C T Missense_Mutation SNP ENST00000368679.8 exon9 c.G778A p.V260M exonic ENSG00000148848.14 . nonsynonymous SNV ENSG00000148848.14:ENST00000368679.8:exon9:c.G778A:p.V260M 10q26.2 C3L-02604 4.12e-05 9.612e-05 0 0.0001 0 4.496e-05 0 0 rs35025137 10.20 D D D D D D L T N 0.646 T T D 0.301 . 0.818 0.843 T T T T T D 3.032 23.500 0.999 D D 0.671 6.736 0.613 6.384 1.000 0.603 0.547 0.547 0.663 . 5.320 5.320 5.002 0.127 -0.175 1.000 0.476 0.679 845 Peptidase_M12B,_ADAM/reprolysin;Reprolysin_domain,_adamalysin-type . . ID=COSV64114634;OCCURENCE=1(oesophagus) ADAM12 135 0 168 119 0.414634146341463 TRUE TRUE ENSG00000175294.6 . BCM GRCh38.p13 chr11 66020615 66020615 + A A T Missense_Mutation SNP ENST00000312106.6 exon7 c.T1940A p.I647N exonic ENSG00000175294.6 . nonsynonymous SNV ENSG00000175294.6:ENST00000312106.6:exon7:c.T1940A:p.I647N 11q13.1 C3L-02604 . . . . . . . . . 16.20 D D D D U D L D D 0.802 D D D 0.688 0.617 0.946 1.358 T D D D D T 4.103 27.800 0.993 D D 0.502 5.050 0.502 5.181 1.000 0.601 0.590 0.547 0.620 . 4.700 4.700 5.111 1.312 0.756 1.000 0.998 0.939 207 Ion_transport_domain . . . CATSPER1 400 0 552 162 0.226890756302521 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02604 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 266 0 244 133 0.352785145888594 TRUE TRUE ENSG00000013573.17 . BCM GRCh38.p13 chr12 31101869 31101869 + G G A Missense_Mutation SNP ENST00000545668.5 exon21 c.G2089A p.G697S exonic ENSG00000013573.17 . nonsynonymous SNV ENSG00000013573.17:ENST00000545668.5:exon21:c.G2089A:p.G697S 12p11.21 C3L-02604 6.627e-05 0 0 0 0 8.997e-05 0 0.0001 rs748906306 2.19 T T P B N D . D N 0.227 T T T 0.244 . 0.906 . T T T T T T 1.385 14.980 0.860 N N -0.945 0.465 -0.903 0.617 0.000 0.672 0.702 0.702 0.684 . 3.720 1.170 4.627 -0.528 -1.013 1.000 0.204 0.011 976 ATP-dependent_helicase,_C-terminal . . ID=COSV52501136;OCCURENCE=1(large_intestine) DDX11 585 0 583 276 0.321303841676368 NA TRUE ENSG00000123360.12 . BCM GRCh38.p13 chr12 54575214 54575214 + G G A Missense_Mutation SNP ENST00000243052.8 exon11 c.G1181A p.R394H exonic ENSG00000123360.12 . nonsynonymous SNV ENSG00000123360.12:ENST00000243052.8:exon11:c.G1181A:p.R394H 12q13.2 C3L-02604 4.127e-05 9.615e-05 0 0 0.0003 3.002e-05 0 0 rs143206355 17.20 D D D D D D M D D 0.525 D D D 0.552 . 0.876 1.175 T D T T D D 4.256 29.200 0.999 D D 0.784 8.471 0.744 8.657 0.999 0.563 0.654 0.602 0.542 . 5.250 5.250 5.729 1.176 0.676 1.000 1.000 0.968 691 3'5'-cyclic_nucleotide_phosphodiesterase,_catalytic_domain . . ID=COSV99226542;OCCURENCE=1(upper_aerodigestive_tract) PDE1B 152 0 204 63 0.235955056179775 TRUE TRUE ENSG00000139718.10 . BCM GRCh38.p13 chr12 121828048 121828048 + G G A Missense_Mutation SNP ENST00000604567.5 exon16 c.G5705A p.R1902H exonic ENSG00000139718.10 . nonsynonymous SNV ENSG00000139718.10:ENST00000604567.5:exon16:c.G5705A:p.R1902H 12q24.31 C3L-02604 . . . . . . . . . 17.18 D D . . D D H D D 0.906 D D D 0.770 - 0.881 1.604 D T D D D D 4.479 32 0.992 D D 0.932 11.916 0.854 11.911 1.000 0.707 0.702 0.725 0.711 . 5.110 5.110 9.994 1.176 0.676 1.000 0.938 0.963 518 SET_domain . . . SETD1B 175 0 256 78 0.233532934131737 TRUE TRUE ENSG00000088451.11 . BCM GRCh38.p13 chr13 94592269 94592269 + G G T Missense_Mutation SNP ENST00000261296.7 exon3 c.C194A p.S65Y exonic ENSG00000088451.11 . nonsynonymous SNV ENSG00000088451.11:ENST00000261296.7:exon3:c.C194A:p.S65Y 13q32.1 C3L-02604 . . . . . . . . . 19.20 D D D D D D M D D 0.367 D D D 0.739 0.562 0.895 0.661 T D D D D D 3.171 23.800 0.994 D D 0.601 5.929 0.575 5.929 1.000 0.707 0.725 0.725 0.714 . 5.630 4.780 4.289 1.176 0.676 1.000 1.000 0.999 909 NAD(P)-binding_domain . . . TGDS 79 0 136 26 0.160493827160494 TRUE TRUE ENSG00000211797.2 . BCM GRCh38.p13 chr14 21997958 21997958 + T T C Missense_Mutation SNP ENST00000390445.2 exon2 c.T127C p.C43R exonic ENSG00000211797.2 . nonsynonymous SNV ENSG00000211797.2:ENST00000390445.2:exon2:c.T127C:p.C43R 14q11.2 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TRAV17 63 0 122 36 0.227848101265823 TRUE TRUE ENSG00000100644.17 . BCM GRCh38.p13 chr14 61721775 61721775 + C C T Missense_Mutation SNP ENST00000337138.9 exon4 c.C409T p.H137Y exonic ENSG00000100644.17 . nonsynonymous SNV ENSG00000100644.17:ENST00000337138.9:exon4:c.C409T:p.H137Y 14q23.2 C3L-02604 . . . . . . . . . 17.20 D D D D D D H T D 0.919 T T D 0.706 0.833 0.773 1.921 D D D D D D 3.962 26.700 0.998 D D 1.007 14.157 0.945 15.845 1.000 0.732 0.744 0.744 0.714 . 5.750 5.750 7.905 1.026 0.599 1.000 1.000 0.996 677 PAS_fold;PAS_domain . . . HIF1A 170 0 244 76 0.2375 TRUE TRUE ENSG00000102882.12 . BCM GRCh38.p13 chr16 30121915 30121915 + C C T Missense_Mutation SNP ENST00000263025.9 exon2 c.G262A p.E88K exonic ENSG00000102882.12 . nonsynonymous SNV ENSG00000102882.12:ENST00000263025.9:exon2:c.G262A:p.E88K 16p11.2 C3L-02604 . . . . . . . . . 19.20 D D D D D D M D D 0.978 D D D 0.939 0.904 0.969 1.778 D T D D D D 4.178 28.500 0.999 D D 1.006 14.099 0.922 14.744 1.000 0.706 0.710 0.644 0.562 . 5.630 5.630 7.858 1.026 0.599 1.000 0.890 0.917 150 Mitogen-activated_protein_(MAP)_kinase,_conserved_site;Protein_kinase_domain . . . MAPK3 452 0 874 190 0.178571428571429 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675153 7675153 + G G - Frame_Shift_Del DEL ENST00000269305.8 exon5 c.459delC p.G154Afs*16 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon5:c.459delC:p.G154Afs*16 17p13.1 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 244 0 191 118 0.381877022653722 TRUE TRUE ENSG00000108557.19 . BCM GRCh38.p13 chr17 17793232 17793232 + C C T Missense_Mutation SNP ENST00000353383.6 exon3 c.C284T p.P95L exonic ENSG00000108557.19 . nonsynonymous SNV ENSG00000108557.19:ENST00000353383.6:exon3:c.C284T:p.P95L 17p11.2 C3L-02604 0.0001 0 0 0.0008 0 0 0 0.0004 rs370882080 9.20 D D P B N D M T D 0.346 T T D 0.176 . 0.481 0.518 T D T T T D 2.290 21.500 0.989 D N 0.038 2.651 0.056 2.559 0.998 0.563 0.654 0.607 0.684 . 4.550 4.550 1.917 0.947 0.599 0.893 0.357 0.457 313 . . . . RAI1 192 0 198 92 0.317241379310345 TRUE NA ENSG00000161381.14 . BCM GRCh38.p13 chr17 39151389 39151389 + G G A Missense_Mutation SNP ENST00000315392.9 exon1 c.C49T p.R17W exonic ENSG00000161381.14 . nonsynonymous SNV ENSG00000161381.14:ENST00000315392.9:exon1:c.C49T:p.R17W 17q12 C3L-02604 . . . . . . . . . 3.20 D T P P N N L T N 0.181 T T D 0.140 0.417 0.194 0.245 D T T T T T 2.182 20.700 0.952 N N -0.357 1.479 -0.447 1.290 1.000 0.658 0.596 0.619 0.639 . 3.310 -2.420 -0.104 -0.753 -2.103 0.001 0.423 0.751 599 . . . . PLXDC1 28 0 32 10 0.238095238095238 TRUE NA ENSG00000177469.13 . BCM GRCh38.p13 chr17 42405136 42405136 + C C T Missense_Mutation SNP ENST00000357037.6 exon2 c.G724A p.E242K exonic ENSG00000177469.13 . nonsynonymous SNV ENSG00000177469.13:ENST00000357037.6:exon2:c.G724A:p.E242K 17q21.2 C3L-02604 . . . . . . . . . 10.19 T D D P D D . T N 0.468 T T D 0.197 0.156 0.918 . D T T T D D 4.063 27.400 0.998 D D 0.571 5.641 0.596 6.178 1.000 0.722 0.634 0.723 0.735 . 5.480 5.480 4.928 1.026 0.539 1.000 1.000 0.998 511 . . . . CAVIN1 564 0 680 131 0.161528976572133 TRUE TRUE ENSG00000108821.14 . BCM GRCh38.p13 chr17 50199273 50199273 + C C T Missense_Mutation SNP ENST00000225964.10 exon5 c.G424A p.G142R exonic ENSG00000108821.14 . nonsynonymous SNV ENSG00000108821.14:ENST00000225964.10:exon5:c.G424A:p.G142R 17q21.33 C3L-02604 . . . . . . . . . 14.15 D D . . N D . D D 0.955 D D D 0.943 0.968 0.988 0.671 D . D D D . 4.434 31 0.999 D D 0.950 12.428 0.840 11.427 1.000 0.660 0.547 0.663 0.568 . 5.150 5.150 5.501 1.026 0.597 0.999 1.000 0.999 897 . . . . COL1A1 88 0 127 28 0.180645161290323 TRUE TRUE ENSG00000108375.12 . BCM GRCh38.p13 chr17 58358746 58358746 + G G A Nonsense_Mutation SNP ENST00000584437.5 exon8 c.C1030T p.Q344X exonic ENSG00000108375.12;ENSG00000285897.1 . stopgain ENSG00000108375.12:ENST00000584437.5:exon8:c.C1030T:p.Q344X,ENSG00000285897.1:ENST00000648873.1:exon8:c.C1030T:p.Q344X 17q22 C3L-02604 . . . . . . . . . 4.6 . . . . N D . . . 0.915 . . . . . . . . . D D . . 7.610 38 0.998 D N 0.851 9.872 0.653 6.954 1.000 0.581 0.380 0.576 0.542 . 3.540 3.540 6.660 1.157 0.654 1.000 0.996 0.990 308 . . . . RNF43 87 0 104 38 0.267605633802817 TRUE TRUE ENSG00000134438.10 . BCM GRCh38.p13 chr18 59272431 59272431 + G G T Missense_Mutation SNP ENST00000334889.4 exon2 c.C473A p.S158Y exonic ENSG00000134438.10 . nonsynonymous SNV ENSG00000134438.10:ENST00000334889.4:exon2:c.C473A:p.S158Y 18q21.32 C3L-02604 . . . . . . . . . 18.20 D D D D D D L D D 0.771 D D D 0.870 0.531 0.981 2.093 D D D D D T 4.599 32 0.995 D D 0.955 12.575 0.956 16.386 1.000 0.598 0.596 0.666 0.639 . 6.040 6.040 10.003 1.176 0.676 1.000 0.998 0.998 902 Homeobox_domain . . . RAX 298 0 311 155 0.332618025751073 TRUE TRUE ENSG00000141905.19 . BCM GRCh38.p13 chr19 3434282 3434282 + G G A Missense_Mutation SNP ENST00000443272.3 exon5 c.G715A p.V239M exonic ENSG00000141905.19 . nonsynonymous SNV ENSG00000141905.19:ENST00000443272.3:exon5:c.G715A:p.V239M 19p13.3 C3L-02604 0.0002 0 8.711e-05 0.0001 0 1.534e-05 0 0.0014 rs529235700 11.20 D T D D D D M T N 0.913 T T D 0.274 0.663 0.703 1.400 D T T T T D 4.150 28.200 0.998 D D 0.630 6.244 0.551 5.655 1.000 0.722 0.686 0.576 0.735 . 3.480 3.480 8.430 1.176 0.676 1.000 0.982 0.947 970 . . . ID=COSV59417612;OCCURENCE=1(pancreas) NFIC 56 0 86 42 0.328125 TRUE TRUE ENSG00000196365.12 . BCM GRCh38.p13 chr19 5699049 5699049 + C C T Missense_Mutation SNP ENST00000360614.8 exon10 c.G1663A p.V555M exonic ENSG00000196365.12 . nonsynonymous SNV ENSG00000196365.12:ENST00000360614.8:exon10:c.G1663A:p.V555M 19p13.3 C3L-02604 . . . . . . . . . 20.20 D D D D D D M D D 0.867 D D D 0.791 . 0.848 1.082 D D D D D D 3.954 26.700 0.999 D D 0.784 8.470 0.719 8.131 1.000 0.672 0.698 0.702 0.711 . 4.730 4.730 7.612 1.018 0.589 1.000 0.609 0.880 835 ATPase,_AAA-type,_core;AAA+_ATPase_domain . . . LONP1 117 0 111 52 0.319018404907975 TRUE NA ENSG00000142449.13 . BCM GRCh38.p13 chr19 8106225 8106225 + C C T Missense_Mutation SNP ENST00000600128.6 exon38 c.G4696A p.E1566K exonic ENSG00000142449.13 . nonsynonymous SNV ENSG00000142449.13:ENST00000600128.6:exon38:c.G4696A:p.E1566K 19p13.2 C3L-02604 1.653e-05 9.653e-05 0 0 0 1.502e-05 0 0 rs765122699 17.20 D D D P U D M D D 0.881 D D D 0.909 0.875 0.910 0.777 T D D D D D 3.966 26.800 0.999 D D 0.765 8.139 0.619 6.475 1.000 0.707 0.547 0.725 0.564 . 3.250 3.250 7.407 0.877 0.599 1.000 0.974 0.996 878 EGF-like_domain;EGF-like_calcium-binding_domain . . ID=COSV54469893;OCCURENCE=1(biliary_tract) FBN3 143 0 183 75 0.290697674418605 TRUE TRUE ENSG00000177599.13 . BCM GRCh38.p13 chr19 11806095 11806095 + G G A Missense_Mutation SNP ENST00000323169.10 exon3 c.G142A p.G48R exonic ENSG00000177599.13 . nonsynonymous SNV ENSG00000177599.13:ENST00000323169.10:exon3:c.G142A:p.G48R 19p13.2 C3L-02604 . . . . . . . . . 1.19 T T B B . N N T D 0.082 T T T 0.040 . 0.030 0.024 T T T T T T -0.592 0.076 0.946 N N -1.724 0.033 -1.793 0.035 0.000 0.554 0.588 0.602 0.621 . 1.010 -1.780 -4.884 -1.275 -0.181 0.000 0.000 0.000 934 Zinc_finger_C2H2-type . . . ZNF491 188 0 162 65 0.286343612334802 TRUE TRUE ENSG00000105695.15 . BCM GRCh38.p13 chr19 35310030 35310030 + C C A Nonsense_Mutation SNP ENST00000392213.8 exon8 c.C1388A p.S463X exonic ENSG00000105695.15 . stopgain ENSG00000105695.15:ENST00000392213.8:exon8:c.C1388A:p.S463X 19q13.12 C3L-02604 . . . . . . . . . 4.6 . . . . N A . . . 0.779 . . . . . . . . . D D . . 7.841 39 0.996 D N 0.773 8.284 0.637 6.722 1.000 0.554 0.588 0.576 0.613 . 4.800 4.800 3.659 1.026 0.599 0.991 0.954 0.811 923 . . . . MAG 332 0 417 175 0.295608108108108 TRUE TRUE ENSG00000105675.9 . BCM GRCh38.p13 chr19 35557766 35557766 + G G A Missense_Mutation SNP ENST00000262623.4 exon11 c.C1582T p.R528C exonic ENSG00000105675.9 . nonsynonymous SNV ENSG00000105675.9:ENST00000262623.4:exon11:c.C1582T:p.R528C 19q13.12 C3L-02604 . . . . . . . . . 18.20 D T D D D D M T D 0.927 D D D 0.801 0.655 0.929 2.128 D D D D D D 4.735 32 0.999 D D 0.608 6.006 0.503 5.190 1.000 0.659 0.689 0.240 0.604 . 3.800 2.690 3.646 1.164 0.604 1.000 1.000 0.999 799 . . . . ATP4A 146 0 259 57 0.180379746835443 TRUE NA ENSG00000090006.18 . BCM GRCh38.p13 chr19 40611251 40611251 + G G A Missense_Mutation SNP ENST00000308370.11 exon16 c.G2111A p.G704D exonic ENSG00000090006.18 . nonsynonymous SNV ENSG00000090006.18:ENST00000308370.11:exon16:c.G2111A:p.G704D 19q13.2 C3L-02604 . . . . . . . . . 17.20 D T D D D D H D D 0.764 D D D 0.777 0.811 0.765 1.273 T D D D D D 3.471 24.600 0.998 D N 0.555 5.493 0.433 4.598 1.000 0.741 0.634 0.000 0.563 . 4.810 3.760 0.605 1.176 0.676 0.012 0.999 0.998 749 EGF-like,_conserved_site;EGF-like_domain;EGF-like_calcium-binding_domain . . . LTBP4 370 1 556 183 0.247631935047361 TRUE TRUE ENSG00000087510.7 . BCM GRCh38.p13 chr20 56631259 56631259 + G G A Missense_Mutation SNP ENST00000201031.3 exon2 c.G103A p.A35T exonic ENSG00000087510.7 . nonsynonymous SNV ENSG00000087510.7:ENST00000201031.3:exon2:c.G103A:p.A35T 20q13.31 C3L-02604 8.68e-06 0 0 0 0.0002 0 0 0 rs775607231 5.20 D T B B D D L T N 0.152 T T D 0.213 0.162 0.590 0.905 T T T T T T 2.044 19.590 0.989 D N -0.618 0.955 -0.579 1.078 1.000 0.726 0.563 0.594 0.639 . 5.670 1.470 3.687 0.110 0.575 0.995 0.035 0.667 976 . . . ID=COSV104389725;OCCURENCE=1(large_intestine) TFAP2C 45 0 62 15 0.194805194805195 TRUE NA ENSG00000156282.5 . BCM GRCh38.p13 chr21 30166436 30166436 + C C T Missense_Mutation SNP ENST00000286808.5 exon1 c.G182A p.R61Q exonic ENSG00000156282.5 . nonsynonymous SNV ENSG00000156282.5:ENST00000286808.5:exon1:c.G182A:p.R61Q 21q21.3 C3L-02604 8.249e-06 0 0 0 0 1.501e-05 0 0 rs773823219 4.20 T T P B D N N D N 0.123 T T D 0.310 0.506 0.719 0.075 T T T T T D 1.777 17.560 0.491 N N -0.729 0.764 -0.739 0.844 0.917 0.487 0.574 0.574 0.564 . 5.220 2.250 0.507 0.087 0.599 0.071 0.143 0.972 565 Claudin,_conserved_site . . ID=COSV54522581;OCCURENCE=1(stomach) CLDN17 194 0 273 85 0.237430167597765 TRUE TRUE ENSG00000244486.9 . BCM GRCh38.p13 chr22 20431966 20431966 + C C T Missense_Mutation SNP ENST00000623402.1 exon2 c.G196A p.A66T exonic ENSG00000244486.9 . nonsynonymous SNV ENSG00000244486.9:ENST00000623402.1:exon2:c.G196A:p.A66T 22q11.21 C3L-02604 . . . . . . . . . 0.17 . T B B N N N . . 0.094 T T T 0.020 0.414 0.132 . T T T T T T 0.558 7.095 0.972 N N -0.575 1.034 -0.561 1.106 1.000 0.696 0.610 0.654 0.563 . 4.530 -0.482 -3.023 0.943 0.545 0.000 0.985 0.775 982 . . . ID=COSV56733297;OCCURENCE=1(large_intestine) SCARF2 560 2 516 254 0.32987012987013 TRUE TRUE ENSG00000099949.21 . BCM GRCh38.p13 chr22 20987536 20987536 + G G A Missense_Mutation SNP ENST00000646124.2 exon4 c.G353A p.R118H exonic ENSG00000099949.21 . nonsynonymous SNV ENSG00000099949.21:ENST00000646124.2:exon4:c.G353A:p.R118H 22q11.21 C3L-02604 2.485e-05 0 0 0 0 1.51e-05 0 0.0001 rs769001939 18.20 D D D D D D H T D 0.945 D D D 0.830 0.901 0.891 1.885 D T D D D D 4.204 28.700 1.000 D D 1.040 15.223 0.954 16.251 1.000 0.706 0.654 0.710 0.711 . 5.280 5.280 7.638 1.172 0.672 1.000 0.984 0.786 923 . . . ID=COSV53145056;OCCURENCE=1(central_nervous_system) LZTR1 188 0 197 88 0.308771929824561 TRUE TRUE ENSG00000159307.19 . BCM GRCh38.p13 chr22 43210123 43210123 + C C A Missense_Mutation SNP ENST00000360835.9 exon19 c.G2501T p.R834L exonic ENSG00000159307.19 . nonsynonymous SNV ENSG00000159307.19:ENST00000360835.9:exon19:c.G2501T:p.R834L 22q13.2 C3L-02604 . . . . . . . . . 15.20 D D D D D D L T D 0.864 T T D 0.591 0.629 0.687 1.828 D T D D D D 4.059 27.400 0.998 D D 0.595 5.871 0.543 5.573 1.000 0.646 0.590 0.645 0.568 . 3.630 3.630 7.831 1.026 0.599 1.000 0.994 0.865 691 CUB_domain . . . SCUBE1 59 0 81 25 0.235849056603774 TRUE TRUE ENSG00000169891.18 . BCM GRCh38.p13 chrX 17062532 17062532 + - NA GTAA Frame_Shift_Ins INS ENST00000357277.8 exon9 c.1209_1210insGTAA p.K404Vfs*6 exonic ENSG00000169891.18 . frameshift insertion ENSG00000169891.18:ENST00000357277.8:exon9:c.1209_1210insGTAA:p.K404Vfs*6 Xp22.2 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . REPS2 NA NA NA NA NA NA NA ENSG00000158352.15 . BCM GRCh38.p13 chrX 50608178 50608178 + C C A Missense_Mutation SNP ENST00000376020.6 exon6 c.G2964T p.M988I exonic ENSG00000158352.15 . nonsynonymous SNV ENSG00000158352.15:ENST00000376020.6:exon6:c.G2964T:p.M988I Xp11.22 C3L-02604 . . . . . . . . . 2.19 T T B B N N L T N 0.174 T T D 0.075 0.188 0.151 0.116 T T T T T T 1.105 12.820 0.939 D . . . . . 0.976 . . . . . 5.640 2.860 0.183 1.026 0.599 0.938 0.999 0.983 799 . . . ID=COSV56795761;OCCURENCE=1(lung) SHROOM4 281 1 382 108 0.220408163265306 TRUE TRUE ENSG00000126733.21 . BCM GRCh38.p13 chrX 86695179 86695179 + A A T Nonsense_Mutation SNP ENST00000373125.9 exon5 c.A931T p.R311X exonic ENSG00000126733.21 . stopgain ENSG00000126733.21:ENST00000373125.9:exon5:c.A931T:p.R311X Xq21.2 C3L-02604 . . . . . . . . . 5.5 . . . . D A . . . 0.978 . . . . . . . . . D D . . 6.895 36 0.997 D . . . . . 0.000 . . . . . 4.990 3.800 3.376 0.104 0.663 1.000 0.968 0.969 937 . . . . DACH2 18 0 23 7 0.233333333333333 NA TRUE ENSG00000171054.8 . BCM GRCh38.p13 chrX 131544948 131544948 + - NA A Frame_Shift_Ins INS ENST00000338616.5 exon1 c.876dupA p.D295Rfs*3 exonic ENSG00000171054.8 . frameshift insertion ENSG00000171054.8:ENST00000338616.5:exon1:c.876dupA:p.D295Rfs*3 Xq26.2 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR13H1 NA NA NA NA NA NA NA ENSG00000004487.17 . BCM GRCh38.p13 chr1 23083310 23083310 + G G A Silent SNP ENST00000356634.7 exon19 c.G2505A p.T835T exonic ENSG00000004487.17 . synonymous SNV ENSG00000004487.17:ENST00000356634.7:exon19:c.G2505A:p.T835T 1p36.12 C3L-02604 0.0010 0.0107 0.0004 0 0 0.0001 0 0 rs150794224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56500797;OCCURENCE=1(stomach),1(urinary_tract) KDM1A 124 1 187 58 0.236734693877551 TRUE TRUE ENSG00000136630.13 . BCM GRCh38.p13 chr1 220884317 220884317 + C C T Silent SNP ENST00000366903.8 exon4 c.C1080T p.G360G exonic ENSG00000136630.13 . synonymous SNV ENSG00000136630.13:ENST00000366903.8:exon4:c.C1080T:p.G360G 1q41 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HLX 151 0 211 87 0.291946308724832 TRUE TRUE ENSG00000115414.20 . BCM GRCh38.p13 chr2 215397741 215397741 + G G A Silent SNP ENST00000354785.10 exon22 c.C3456T p.T1152T exonic ENSG00000115414.20 . synonymous SNV ENSG00000115414.20:ENST00000354785.10:exon22:c.C3456T:p.T1152T 2q35 C3L-02604 8.239e-06 0 0 0 0 0 0.0011 0 rs762269962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FN1 323 0 453 145 0.24247491638796 TRUE NA ENSG00000063660.9 . BCM GRCh38.p13 chr2 240462213 240462213 + C C T Silent SNP ENST00000264039.7 exon3 c.C348T p.N116N exonic ENSG00000063660.9 . synonymous SNV ENSG00000063660.9:ENST00000264039.7:exon3:c.C348T:p.N116N 2q37.3 C3L-02604 5.45e-05 0 0 0 0 7.625e-05 0 9.649e-05 rs374492921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV50867247;OCCURENCE=1(large_intestine),1(endometrium) GPC1 66 0 79 30 0.275229357798165 TRUE TRUE ENSG00000133256.12 . BCM GRCh38.p13 chr4 625932 625932 + C C T Silent SNP ENST00000496514.5 exon1 c.C306T p.G102G exonic ENSG00000133256.12 . synonymous SNV ENSG00000133256.12:ENST00000496514.5:exon1:c.C306T:p.G102G 4p16.3 C3L-02604 7.699e-05 0.0002 0.0003 0.0003 0 3.604e-05 0 0 rs201939549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55328837;OCCURENCE=1(oesophagus),1(biliary_tract) PDE6B 124 0 206 61 0.228464419475655 TRUE TRUE ENSG00000261934.2 . BCM GRCh38.p13 chr5 141404806 141404806 + G G A Silent SNP ENST00000573521.1 exon1 c.G1854A p.S618S exonic ENSG00000261934.2 . synonymous SNV ENSG00000261934.2:ENST00000573521.1:exon1:c.G1854A:p.S618S 5q31.3 C3L-02604 2.485e-05 0 0 0.0003 0 0 0 0 rs774487660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PCDHGA9 401 1 559 183 0.246630727762803 TRUE NA ENSG00000120278.16 . BCM GRCh38.p13 chr6 150831496 150831496 + C C T Silent SNP ENST00000358517.6 exon15 c.C2385T p.D795D exonic ENSG00000120278.16 . synonymous SNV ENSG00000120278.16:ENST00000358517.6:exon15:c.C2385T:p.D795D 6q25.1 C3L-02604 . . . . . . . . rs140164486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEKHG1 151 0 223 86 0.27831715210356 TRUE NA ENSG00000146555.19 . BCM GRCh38.p13 chr7 4114045 4114045 + G G A Silent SNP ENST00000404826.7 exon25 c.G3594A p.P1198P exonic ENSG00000146555.19 . synonymous SNV ENSG00000146555.19:ENST00000404826.7:exon25:c.G3594A:p.P1198P 7p22.2 C3L-02604 1.654e-05 0 0 0 0 0 0 0.0001 rs775204533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV101269355;OCCURENCE=1(stomach),1(skin) SDK1 234 0 326 124 0.275555555555556 TRUE NA ENSG00000003989.18 . BCM GRCh38.p13 chr8 17551876 17551876 + G G A Silent SNP ENST00000494857.6 exon7 c.G945A p.P315P exonic ENSG00000003989.18 . synonymous SNV ENSG00000003989.18:ENST00000494857.6:exon7:c.G945A:p.P315P 8p22 C3L-02604 5.766e-05 0.0002 0 0 0 0 0 0.0003 rs141741899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99136558;OCCURENCE=1(stomach) SLC7A2 495 0 641 209 0.245882352941176 TRUE NA ENSG00000177354.12 . BCM GRCh38.p13 chr10 49323433 49323433 + C C T Silent SNP ENST00000374144.8 exon3 c.C888T p.T296T exonic ENSG00000177354.12 . synonymous SNV ENSG00000177354.12:ENST00000374144.8:exon3:c.C888T:p.T296T 10q11.23 C3L-02604 1.663e-05 0 0 0.0001 0 1.505e-05 0 0 rs372950100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60508142;OCCURENCE=1(stomach),1(skin) C10orf71 142 0 191 64 0.250980392156863 TRUE TRUE ENSG00000099204.20 . BCM GRCh38.p13 chr10 114601828 114601828 + T T C Silent SNP ENST00000277895.9 exon2 c.A378G p.K126K exonic ENSG00000099204.20 . synonymous SNV ENSG00000099204.20:ENST00000277895.9:exon2:c.A378G:p.K126K 10q25.3 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABLIM1 462 0 960 256 0.210526315789474 TRUE TRUE ENSG00000175029.17 . BCM GRCh38.p13 chr10 124998088 124998088 + C C A Silent SNP ENST00000337195.9 exon6 c.G441T p.R147R exonic ENSG00000175029.17 . synonymous SNV ENSG00000175029.17:ENST00000337195.9:exon6:c.G441T:p.R147R 10q26.13 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CTBP2 378 0 747 168 0.183606557377049 TRUE TRUE ENSG00000184154.14 . BCM GRCh38.p13 chr11 72106041 72106041 + G G A Silent SNP ENST00000541899.2 exon1 c.G90A p.T30T exonic ENSG00000184154.14;ENSG00000284844.1 . synonymous SNV ENSG00000284844.1:ENST00000541899.2:exon1:c.G90A:p.T30T,ENSG00000184154.14:ENST00000307198.11:exon5:c.G189A:p.T63T 11q13.4 C3L-02604 5.07e-05 0 0 0.0016 0 0 0 0 rs556093010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53825266;OCCURENCE=1(endometrium) LRTOMT 184 0 292 89 0.233595800524934 TRUE TRUE ENSG00000088808.18 . BCM GRCh38.p13 chr14 103741872 103741872 + G G A Silent SNP ENST00000202556.14 exon11 c.C1740T p.Y580Y exonic ENSG00000088808.18 . synonymous SNV ENSG00000088808.18:ENST00000202556.14:exon11:c.C1740T:p.Y580Y 14q32.33 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPP1R13B 264 0 351 120 0.254777070063694 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11854293 11854293 + C C T Silent SNP ENST00000262442.9 exon50 c.C9798T p.C3266C exonic ENSG00000007174.18 . synonymous SNV ENSG00000007174.18:ENST00000262442.9:exon50:c.C9798T:p.C3266C 17p12 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH9 334 0 349 136 0.280412371134021 TRUE TRUE ENSG00000153976.3 . BCM GRCh38.p13 chr17 13600593 13600593 + G G A Silent SNP ENST00000284110.2 exon1 c.C537T p.R179R exonic ENSG00000153976.3 . synonymous SNV ENSG00000153976.3:ENST00000284110.2:exon1:c.C537T:p.R179R 17p12 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99404235;OCCURENCE=1(large_intestine) HS3ST3A1 326 0 338 160 0.321285140562249 TRUE TRUE ENSG00000125319.14 . BCM GRCh38.p13 chr17 44148334 44148334 + A A T Silent SNP ENST00000319977.8 exon3 c.A531T p.G177G exonic ENSG00000125319.14 . synonymous SNV ENSG00000125319.14:ENST00000319977.8:exon3:c.A531T:p.G177G 17q21.31 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HROB 172 0 290 57 0.164265129682997 TRUE TRUE ENSG00000004939.15 . BCM GRCh38.p13 chr17 44255273 44255273 + G G A Silent SNP ENST00000262418.12 exon15 c.C1824T p.F608F exonic ENSG00000004939.15 . synonymous SNV ENSG00000004939.15:ENST00000262418.12:exon15:c.C1824T:p.F608F 17q21.31 C3L-02604 4.652e-05 0 0 0 0 0.0001 0 0 rs751967295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99292966;OCCURENCE=1(cervix) SLC4A1 138 0 218 69 0.240418118466899 TRUE NA ENSG00000196090.12 . BCM GRCh38.p13 chr20 42115274 42115274 + G G A Silent SNP ENST00000373187.5 exon22 c.C3024T p.Y1008Y exonic ENSG00000196090.12 . synonymous SNV ENSG00000196090.12:ENST00000373187.5:exon22:c.C3024T:p.Y1008Y 20q12 C3L-02604 6.628e-05 0.0002 8.64e-05 0 0 7.496e-05 0 0 rs369837092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61957752;OCCURENCE=3(oesophagus) PTPRT 230 0 345 88 0.203233256351039 TRUE TRUE ENSG00000054796.13 . BCM GRCh38.p13 chr20 57333239 57333239 + G G A Silent SNP ENST00000371263.8 exon3 c.G297A p.K99K exonic ENSG00000054796.13 . synonymous SNV ENSG00000054796.13:ENST00000371263.8:exon3:c.G297A:p.K99K 20q13.31 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPO11 171 0 239 61 0.203333333333333 TRUE TRUE ENSG00000130702.15 . BCM GRCh38.p13 chr20 62318580 62318580 + G G A Silent SNP ENST00000252999.7 exon53 c.C7113T p.R2371R exonic ENSG00000130702.15 . synonymous SNV ENSG00000130702.15:ENST00000252999.7:exon53:c.C7113T:p.R2371R 20q13.33 C3L-02604 9.3e-05 0 0.0003 0 0 9.291e-05 0 6.067e-05 rs111275179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99442975;OCCURENCE=2(large_intestine) LAMA5 279 0 449 149 0.249163879598662 TRUE NA ENSG00000234469.4 . BCM GRCh38.p13 chrX 9967438 9967438 + G G A Silent SNP ENST00000445307.4 exon1 c.G81A p.T27T exonic ENSG00000234469.4 . synonymous SNV ENSG00000234469.4:ENST00000445307.4:exon1:c.G81A:p.T27T Xp22.2 C3L-02604 . . . . . . . . rs1035174605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLDN34 198 0 304 87 0.222506393861893 TRUE NA ENSG00000180815.14 . BCM GRCh38.p13 chrX 19398306 19398306 + C C T Silent SNP ENST00000338883.8 exon15 c.G1986A p.T662T exonic ENSG00000180815.14 . synonymous SNV ENSG00000180815.14:ENST00000338883.8:exon15:c.G1986A:p.T662T Xp22.12 C3L-02604 6.838e-05 0 0 0 0 0 0 0.0006 rs757580712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K15 286 2 445 107 0.193840579710145 TRUE NA ENSG00000116473.14 . BCM GRCh38.p13 chr1 111703333 111703333 + - NA AGG Intron INS NA NA NA NA intronic ENSG00000116473.14 . . . 1p13.2 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RAP1A NA NA NA NA NA NA NA ENSG00000274702.1 . BCM GRCh38.p13 chr1 187641480 187641480 + C C T IGR SNP NA NA NA NA intergenic ENSG00000274702.1;ENSG00000236401.1 dist=9041;dist=65081 . . 1q31.1 C3L-02604 5.667e-05 0 0 0 0 0 0 0.0001 rs764508334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AL357559.1 136 0 202 68 0.251851851851852 TRUE NA ENSG00000116962.15 . BCM GRCh38.p13 chr1 236064610 236064610 + G G A Intron SNP NA NA NA NA intronic ENSG00000116962.15 . . . 1q42.3 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NID1 58 0 72 18 0.2 TRUE NA ENSG00000135636.14 . BCM GRCh38.p13 chr2 71620556 71620556 + G G A Intron SNP NA NA NA NA intronic ENSG00000135636.14 . . . 2p13.2 C3L-02604 4.604e-05 0.0005 0 0 0 0 0 0 rs766512164 6.17 T T D P . D . D N 0.666 T T D 0.360 . 0.777 0.193 T . T T T T 2.497 22.400 0.997 D D 0.017 2.573 0.161 2.998 1.000 0.707 0.574 0.659 0.714 . 4.740 4.740 5.316 1.083 0.618 1.000 0.981 0.966 428 . . . . DYSF 217 0 346 88 0.202764976958525 TRUE NA ENSG00000163602.10 . BCM GRCh38.p13 chr3 72446646 72446646 + A A - 5'Flank SNP NA NA NA NA upstream ENSG00000163602.10 dist=25 . . 3p13 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RYBP 291 0 374 140 0.272373540856031 TRUE TRUE ENSG00000287916.1 . BCM GRCh38.p13 chr3 156291951 156291951 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000287916.1 . . . 3q25.31 C3L-02604 . . . . . . . . . 8.18 D T D P D D . T N 0.445 T T T 0.207 0.450 0.429 . . T T T D D 2.376 22.000 0.999 D D 0.669 6.712 0.686 7.503 1.000 0.437 0.563 0.607 0.604 . 5.040 5.040 9.745 1.176 0.618 1.000 1.000 0.999 791 . . . . AC091607.2 384 0 571 184 0.243708609271523 TRUE TRUE ENSG00000197226.12 . BCM GRCh38.p13 chr5 179862581 179862581 + C C A 3'UTR SNP NA NA NA NA UTR3 ENSG00000197226.12 ENST00000356834.7:c.*867G>T . . 5q35.3 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D9B 151 0 314 117 0.271461716937355 TRUE TRUE ENSG00000215244.3 . BCM GRCh38.p13 chr10 6328184 6328184 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000215244.3 . . . 10p15.1 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC02649 183 0 389 97 0.199588477366255 TRUE NA ENSG00000187185.4 . BCM GRCh38.p13 chr16 57816735 57816735 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000187185.4 . . . 16q21 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC092118.1 207 0 300 98 0.246231155778894 TRUE NA ENSG00000267757.4 . BCM GRCh38.p13 chr19 45645273 45645273 + C C T IGR SNP NA NA NA NA intergenic ENSG00000267757.4;ENSG00000241226.3 dist=2433;dist=6237 . . 19q13.32 C3L-02604 . . . . . . . . . 7.13 . D . . . D . T . 0.311 T T D 0.157 . 0.691 0.683 D . T T D T 5.806 35 0.961 D D 0.383 4.239 0.412 4.443 1.000 0.455 0.547 0.607 0.563 . 4.390 4.390 4.998 1.025 0.596 1.000 1.000 0.995 770 . . . . EML2-AS1 229 1 361 69 0.16046511627907 TRUE TRUE ENSG00000101203.16 . BCM GRCh38.p13 chr20 63325271 63325271 + A A C Intron SNP NA NA NA NA intronic ENSG00000101203.16 . . . 20q13.33 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . COL20A1 251 0 386 105 0.213849287169043 TRUE NA ENSG00000168702.18 . BCM GRCh38.p13 chr2 140903039 140903040 + TC TC CA Unknown MNP ENST00000389484.8 exon23 c.3646_3647delinsTG p.D1216C exonic ENSG00000168702.18 . nonframeshift substitution ENSG00000168702.18:ENST00000389484.8:exon23:c.3646_3647delinsTG:p.D1216C 2q22.1 C3L-02604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP1B 216 1 354 78 0.180555555555556 TRUE TRUE ENSG00000065526.12 . BCM GRCh38.p13 chr1 15929695 15929695 + C C A Nonsense_Mutation SNP ENST00000375759.8 exon11 c.C3455A p.S1152X exonic ENSG00000065526.12 . stopgain ENSG00000065526.12:ENST00000375759.8:exon11:c.C3455A:p.S1152X 1p36.13 C3L-00277 . . . . . . . . . 3.5 . . . . . A . . . 0.788 . . . . . . . . . D D . . 5.872 35 0.996 N N 0.406 4.379 0.198 3.172 0.011 0.707 0.725 0.725 0.714 . 5.200 3.290 1.126 0.088 0.599 0.028 0.984 1.000 419 . . . . SPEN 128 0 121 54 0.308571428571429 TRUE TRUE ENSG00000162692.12 . BCM GRCh38.p13 chr1 100732632 100732632 + A A C Missense_Mutation SNP ENST00000294728.7 exon7 c.A1740C p.E580D exonic ENSG00000162692.12 . nonsynonymous SNV ENSG00000162692.12:ENST00000294728.7:exon7:c.A1740C:p.E580D 1p21.2 C3L-00277 . . . . . . . . . 7.20 D D B B N D M T N 0.340 T T T 0.141 0.650 0.390 0.236 T T T T D T 1.559 16.110 0.995 D D -0.135 2.068 -0.154 1.900 0.112 0.554 0.602 0.574 0.621 . 5.570 3.230 1.814 -0.076 -0.828 1.000 0.998 0.620 427 Immunoglobulin_subtype_2;Immunoglobulin_V-set_domain;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . VCAM1 78 0 95 39 0.291044776119403 TRUE NA ENSG00000116584.20 . BCM GRCh38.p13 chr1 155951050 155951050 + G G A Missense_Mutation SNP ENST00000361247.9 exon20 c.C2482T p.R828W exonic ENSG00000116584.20 . nonsynonymous SNV ENSG00000116584.20:ENST00000361247.9:exon20:c.C2482T:p.R828W 1q22 C3L-00277 . . . . . . . . . 11.20 D D D D D N N T D 0.443 T T D 0.134 . 0.545 1.282 D T T T D D 3.336 24.200 0.999 D N 0.401 4.347 0.417 4.484 0.999 0.672 0.702 0.702 0.636 . 5.120 5.120 0.602 1.176 0.676 0.000 0.160 0.882 111 . . . . ARHGEF2 201 0 606 94 0.134285714285714 TRUE NA ENSG00000198400.11 . BCM GRCh38.p13 chr1 156864747 156864747 + C C T Missense_Mutation SNP ENST00000524377.5 exon3 c.C307T p.L103F exonic ENSG00000198400.11 . nonsynonymous SNV ENSG00000198400.11:ENST00000524377.5:exon3:c.C307T:p.L103F 1q23.1 C3L-00277 . . . . . . . . . 13.20 D D D D D D M T N 0.774 T T D 0.617 0.565 0.921 0.923 T T D D D T 3.999 27.000 0.999 D D 0.693 7.023 0.648 6.885 1.000 0.598 0.547 0.596 0.550 . 5.140 5.140 3.614 1.026 0.549 0.997 0.990 0.993 623 . . . . NTRK1 249 0 486 408 0.456375838926175 TRUE TRUE ENSG00000162735.18 . BCM GRCh38.p13 chr1 160282074 160282074 + C C A Missense_Mutation SNP ENST00000485079.1 exon2 c.G169T p.V57L exonic ENSG00000162735.18;ENSG00000258465.8 . nonsynonymous SNV ENSG00000258465.8:ENST00000485079.1:exon2:c.G169T:p.V57L,ENSG00000162735.18:ENST00000368072.9:exon5:c.G559T:p.V187L 1q23.2 C3L-00277 . . . . . . . . . 10.19 D T P B D D L T N 0.532 T T D 0.278 0.695 0.509 0.288 . T D D D D 2.767 23.000 0.997 D D 0.173 3.187 0.325 3.867 1.000 0.722 0.725 0.699 0.714 . 5.080 5.080 5.349 1.026 0.599 1.000 1.000 0.986 300 . . . . PEX19 298 0 670 79 0.105473965287049 TRUE TRUE ENSG00000143512.13 . BCM GRCh38.p13 chr1 222532110 222532110 + G G A Nonsense_Mutation SNP ENST00000343410.7 exon6 c.C1579T p.R527X exonic ENSG00000143512.13 . stopgain ENSG00000143512.13:ENST00000343410.7:exon6:c.C1579T:p.R527X 1q41 C3L-00277 1.711e-05 0 0 0 0 3.099e-05 0 0 rs779253171 6.6 . . . . D A . . . 0.417 . . . . . . . . . D D . . 9.137 47 0.999 D D 0.758 8.012 0.608 6.329 0.558 0.487 0.574 0.574 0.564 . 5.000 4.090 5.495 1.122 0.595 1.000 1.000 0.996 913 Glucose/Sorbosone_dehydrogenase . . ID=COSV58567693;OCCURENCE=1(central_nervous_system) HHIPL2 79 0 163 26 0.137566137566138 TRUE TRUE ENSG00000003137.8 . BCM GRCh38.p13 chr2 72133100 72133100 + C C T Missense_Mutation SNP ENST00000001146.6 exon5 c.G1069A p.V357I exonic ENSG00000003137.8 . nonsynonymous SNV ENSG00000003137.8:ENST00000001146.6:exon5:c.G1069A:p.V357I 2p13.2 C3L-00277 3.382e-05 0.0002 0 0 0 1.55e-05 0 6.089e-05 rs541205721 9.20 D D D D N D M T N 0.268 T T D 0.402 0.831 0.645 0.694 T T T T T D 2.946 23.300 0.999 D N 0.614 6.065 0.584 6.032 1.000 0.516 0.574 0.604 0.586 . 5.640 4.760 4.884 1.026 0.599 1.000 0.976 0.960 920 . . . ID=COSV50014098;OCCURENCE=1(lung) CYP26B1 452 1 569 137 0.194050991501416 TRUE TRUE ENSG00000115598.10 . BCM GRCh38.p13 chr2 102239237 102239237 + G G C Missense_Mutation SNP ENST00000264257.7 exon12 c.G1724C p.G575A exonic ENSG00000115598.10 . nonsynonymous SNV ENSG00000115598.10:ENST00000264257.7:exon12:c.G1724C:p.G575A 2q12.1 C3L-00277 . . . . . . . . . 2.19 D D B B . N N T N 0.132 T T T 0.022 0.191 0.048 0.160 T T T T T T -0.131 0.715 0.939 N N -1.352 0.138 -1.407 0.148 1.000 0.616 0.575 0.547 0.632 . 2.290 0.318 -1.014 -0.522 -0.891 0.000 0.002 0.003 834 . . . . IL1RL2 169 0 196 41 0.172995780590717 TRUE TRUE ENSG00000144460.12 . BCM GRCh38.p13 chr2 225651486 225651486 + C C T Missense_Mutation SNP ENST00000636099.1 exon7 c.C1883T p.P628L exonic ENSG00000144460.12 . nonsynonymous SNV ENSG00000144460.12:ENST00000636099.1:exon7:c.C1883T:p.P628L 2q36.3 C3L-00277 . . . . . . . . . 9.20 D T D D N D M T N 0.563 T T T 0.290 0.091 0.103 1.101 T T T T D D 3.754 25.600 0.999 D D 0.578 5.709 0.614 6.402 1.000 0.487 0.563 0.547 0.564 . 5.720 5.720 5.752 1.026 0.599 1.000 0.946 0.815 608 Neuronal_tyrosine-phosphorylated_phosphoinositide-3-kinase_adapter,_C-terminal_domain . . . NYAP2 295 0 439 90 0.170132325141777 TRUE TRUE ENSG00000126524.10 . BCM GRCh38.p13 chr7 66988402 66988402 + T T A Missense_Mutation SNP ENST00000246868.7 exon5 c.A722T p.D241V exonic ENSG00000126524.10 . nonsynonymous SNV ENSG00000126524.10:ENST00000246868.7:exon5:c.A722T:p.D241V 7q11.21 C3L-00277 . . . . . . . . . 13.20 T T B B D D L D D 0.808 D D D 0.627 0.273 0.957 0.650 T T D D D D 2.660 22.800 0.957 D D -0.210 1.848 -0.022 2.285 0.502 0.707 0.725 0.725 0.714 . 5.050 3.880 7.105 0.951 0.550 1.000 0.967 0.944 929 . . . . SBDS 298 0 361 227 0.386054421768707 NA TRUE ENSG00000128512.23 . BCM GRCh38.p13 chr7 111739238 111739238 + G G T Missense_Mutation SNP ENST00000437633.6 exon48 c.C5101A p.P1701T exonic ENSG00000128512.23 . nonsynonymous SNV ENSG00000128512.23:ENST00000437633.6:exon48:c.C5101A:p.P1701T 7q31.1 C3L-00277 . . . . . . . . . 16.20 D D D D D D L T D 0.635 T D D 0.377 0.227 0.680 0.412 D T D D D D 4.027 27.200 0.997 D D 0.943 12.217 0.946 15.856 1.000 0.707 0.547 0.567 0.714 . 6.050 6.050 9.356 1.176 0.676 1.000 0.992 0.986 906 . . . . DOCK4 212 0 478 91 0.159929701230228 TRUE TRUE ENSG00000104626.15 . BCM GRCh38.p13 chr8 9007991 9007991 + G G T Missense_Mutation SNP ENST00000250263.8 exon2 c.G130T p.D44Y exonic ENSG00000104626.15 . nonsynonymous SNV ENSG00000104626.15:ENST00000250263.8:exon2:c.G130T:p.D44Y 8p23.1 C3L-00277 . . . . . . . . . 7.20 D D B B N D M T D 0.284 T T T 0.103 0.256 0.403 0.033 T T T T D T 2.889 23.200 0.994 D N -0.012 2.469 0.126 2.844 1.000 0.706 0.710 0.710 0.635 . 5.000 5.000 2.630 1.176 0.676 0.997 0.991 0.804 870 . . . . ERI1 136 0 245 13 0.0503875968992248 TRUE NA ENSG00000164736.6 . BCM GRCh38.p13 chr8 54459073 54459073 + C C T Missense_Mutation SNP ENST00000297316.5 exon2 c.C323T p.A108V exonic ENSG00000164736.6 . nonsynonymous SNV ENSG00000164736.6:ENST00000297316.5:exon2:c.C323T:p.A108V 8q11.23 C3L-00277 . . . . . . . . rs931390946 17.20 D D D D D D L D D 0.249 D D D 0.731 0.472 0.682 1.891 T D D D D T 4.157 28.300 0.999 D D 0.546 5.414 0.502 5.176 1.000 0.437 0.563 0.607 0.562 . 4.030 4.030 4.856 0.940 0.501 1.000 0.990 0.995 905 High_mobility_group_box_domain . . ID=COSV52024391;OCCURENCE=1(large_intestine),2(central_nervous_system) SOX17 122 0 192 128 0.4 TRUE TRUE ENSG00000284609.1 . BCM GRCh38.p13 chr11 124396568 124396568 + A A G Missense_Mutation SNP ENST00000641139.1 exon2 c.T784C p.Y262H exonic ENSG00000284609.1 . nonsynonymous SNV ENSG00000284609.1:ENST00000641139.1:exon2:c.T784C:p.Y262H 11q24.2 C3L-00277 . . . . . . . . . 2.20 D D B B N N N T N 0.220 T T T 0.019 0.616 0.168 0.710 T T T T T T 1.063 12.380 0.919 N N -1.045 0.358 -1.032 0.450 0.000 0.487 0.574 0.547 0.564 . 3.760 1.450 -0.152 -0.241 0.641 0.000 0.006 0.975 861 GPCR,_rhodopsin-like,_7TM . . . OR8B3 147 0 215 71 0.248251748251748 NA TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227341 25227341 + T T G Missense_Mutation SNP ENST00000256078.10 exon3 c.A183C p.Q61H exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A183C:p.Q61H 12p12.1 C3L-00277 . . . . . . . . rs17851045 17.20 D D B B D D M D D 0.760 D D D 0.644 0.659 0.905 1.857 D D D D D T 2.993 23.400 0.997 D D 0.298 3.768 0.383 4.239 0.998 0.722 0.710 0.710 0.735 . 5.770 5.770 2.812 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55498802;OCCURENCE=2(breast),6(liver),1(genital_tract),1(cervix),117(large_intestine),2(central_nervous_system),17(biliary_tract),3(ovary),8(stomach),50(haematopoietic_and_lymphoid_tissue),2(urinary_tract),1(kidney),71(pancreas),2(skin),2(prostate),28(lung),1(thyroid),2(small_intestine),5(endometrium) KRAS 179 0 268 151 0.360381861575179 TRUE TRUE ENSG00000112787.13 . BCM GRCh38.p13 chr12 132583593 132583593 + C C A Missense_Mutation SNP ENST00000434748.2 exon17 c.C2953A p.L985I exonic ENSG00000112787.13 . nonsynonymous SNV ENSG00000112787.13:ENST00000434748.2:exon17:c.C2953A:p.L985I 12q24.33 C3L-00277 . . . . . . . . . 2.20 T T B B U N L T N 0.054 T T D 0.015 0.218 0.014 . D T T T T T 1.048 12.210 0.979 N N -0.852 0.582 -0.839 0.703 0.999 0.658 0.588 0.619 0.563 . 3.150 0.605 1.606 0.615 0.373 0.995 0.508 0.252 769 . . . . FBRSL1 11 0 34 3 0.0810810810810811 TRUE NA ENSG00000185215.10 . BCM GRCh38.p13 chr14 103135235 103135235 + G G A Missense_Mutation SNP ENST00000560869.6 exon12 c.G1840A p.A614T exonic ENSG00000185215.10 . nonsynonymous SNV ENSG00000185215.10:ENST00000560869.6:exon12:c.G1840A:p.A614T 14q32.32 C3L-00277 2.477e-05 0 8.643e-05 0 0 3.007e-05 0 0 rs368740303 11.20 D D D D D D M T D 0.226 T T D 0.268 . 0.538 0.964 T T T T D T 3.711 25.500 0.999 D N 0.416 4.443 0.337 3.937 1.000 0.707 0.702 0.723 0.714 . 4.600 3.710 2.204 1.083 0.674 0.994 0.996 0.920 636 . . . ID=COSV60696133;OCCURENCE=1(stomach),1(endometrium) TNFAIP2 287 0 489 219 0.309322033898305 TRUE TRUE ENSG00000006116.4 . BCM GRCh38.p13 chr16 24354949 24354949 + G G A Missense_Mutation SNP ENST00000005284.4 exon3 c.G412A p.A138T exonic ENSG00000006116.4 . nonsynonymous SNV ENSG00000006116.4:ENST00000005284.4:exon3:c.G412A:p.A138T 16p12.1 C3L-00277 . . . . . . . . . 17.20 D T P P D D M D D 0.969 D D D 0.783 0.742 0.800 1.747 D D D D D D 4.129 28.000 0.999 D D 0.746 7.807 0.762 9.079 1.000 0.554 0.588 0.527 0.564 . 5.410 5.410 9.602 1.176 0.676 1.000 0.984 0.998 923 . . . ID=COSV50064715;OCCURENCE=2(large_intestine),2(central_nervous_system),1(pancreas),1(lung) CACNG3 163 0 231 67 0.224832214765101 TRUE TRUE ENSG00000140873.16 . BCM GRCh38.p13 chr16 77362123 77362123 + C C T Missense_Mutation SNP ENST00000282849.10 exon7 c.G1198A p.E400K exonic ENSG00000140873.16 . nonsynonymous SNV ENSG00000140873.16:ENST00000282849.10:exon7:c.G1198A:p.E400K 16q23.1 C3L-00277 . . . . . . . . . 7.20 T T P P D D N T N 0.469 T T T 0.157 0.575 0.606 . D T T T D D 3.638 25.200 0.998 D D 0.066 2.753 0.183 3.100 0.999 0.745 0.574 0.547 0.762 . 5.260 4.320 6.125 1.026 0.599 1.000 1.000 1.000 780 Peptidase_M12B,_ADAM/reprolysin . . . ADAMTS18 309 0 512 103 0.167479674796748 TRUE NA ENSG00000083290.20 . BCM GRCh38.p13 chr17 19804753 19804753 + C C A Missense_Mutation SNP ENST00000395544.9 exon15 c.G1235T p.R412L exonic ENSG00000083290.20 . nonsynonymous SNV ENSG00000083290.20:ENST00000395544.9:exon15:c.G1235T:p.R412L 17p11.2 C3L-00277 . . . . . . . . . 16.20 D D D D D D L T D 0.701 D D D 0.567 0.476 0.939 0.643 T D D T D D 3.828 26.000 0.999 D D 0.759 8.030 0.726 8.260 1.000 0.732 0.588 0.659 0.728 . 5.160 5.160 5.446 1.006 0.575 1.000 1.000 0.998 501 . . . . ULK2 131 0 288 22 0.0709677419354839 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51065449 51065451 + TAC TAC - In_Frame_Del DEL ENST00000342988.8 exon9 c.982_984del p.Y328del exonic ENSG00000141646.14 . nonframeshift deletion ENSG00000141646.14:ENST00000342988.8:exon9:c.982_984del:p.Y328del 18q21.2 C3L-00277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMAD4 330 0 268 106 0.283422459893048 TRUE TRUE ENSG00000181143.15 . BCM GRCh38.p13 chr19 8956509 8956509 + T T C Missense_Mutation SNP ENST00000397910.8 exon3 c.A20261G p.D6754G exonic ENSG00000181143.15 . nonsynonymous SNV ENSG00000181143.15:ENST00000397910.8:exon3:c.A20261G:p.D6754G 19p13.2 C3L-00277 . . . . . . . . . 1.15 D T . . . N . T N 0.095 T T T 0.166 0.064 0.048 . T . T T T T 0.710 8.546 0.303 N N -1.028 0.374 -1.141 0.335 0.000 0.500 0.574 0.574 0.504 . 2.520 1.450 -0.433 0.022 -0.979 0.000 0.001 0.001 911 . . . . MUC16 122 0 200 48 0.193548387096774 TRUE TRUE ENSG00000089048.14 . BCM GRCh38.p13 chr20 13769995 13769995 + T T C Missense_Mutation SNP ENST00000202816.5 exon7 c.A1430G p.D477G exonic ENSG00000089048.14 . nonsynonymous SNV ENSG00000089048.14:ENST00000202816.5:exon7:c.A1430G:p.D477G 20p12.1 C3L-00277 . . . . . . . . . 13.20 D D D D D D M T D 0.714 T T T 0.395 0.425 0.744 0.484 T T D T D D 4.084 27.600 0.999 D D 0.833 9.466 0.795 9.976 1.000 0.732 0.725 0.744 0.714 . 5.970 5.970 5.304 1.137 0.665 1.000 1.000 0.997 668 . . . . ESF1 181 0 183 104 0.362369337979094 TRUE TRUE ENSG00000102302.8 . BCM GRCh38.p13 chrX 54471401 54471401 + G G A Missense_Mutation SNP ENST00000375135.4 exon2 c.C394T p.R132W exonic ENSG00000102302.8 . nonsynonymous SNV ENSG00000102302.8:ENST00000375135.4:exon2:c.C394T:p.R132W Xp11.22 C3L-00277 1.149e-05 0 0 0.0002 0 0 0 0 rs746549256 1.19 T D B B N N N T N 0.122 T T T 0.148 0.316 0.192 0.294 T T T T T T 1.399 15.070 0.874 N . . . . . 1.000 . . . . . 4.880 -8.250 -0.121 -0.648 -0.746 0.988 0.656 0.847 62 . . . ID=COSV100911078;OCCURENCE=1(stomach),1(endometrium) FGD1 124 0 142 92 0.393162393162393 TRUE NA ENSG00000143450.17 . BCM GRCh38.p13 chr1 151766817 151766817 + C C T Silent SNP ENST00000400999.6 exon1 c.C96T p.Y32Y exonic ENSG00000143450.17 . synonymous SNV ENSG00000143450.17:ENST00000400999.6:exon1:c.C96T:p.Y32Y 1q21.3 C3L-00277 6.106e-05 0 0 0 0 5.825e-05 0 0.0002 rs755800995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OAZ3 326 0 748 90 0.107398568019093 TRUE NA ENSG00000160796.18 . BCM GRCh38.p13 chr3 47001132 47001132 + G G C Silent SNP ENST00000450053.8 exon28 c.G4437C p.L1479L exonic ENSG00000160796.18 . synonymous SNV ENSG00000160796.18:ENST00000450053.8:exon28:c.G4437C:p.L1479L 3p21.31 C3L-00277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NBEAL2 104 0 169 50 0.228310502283105 TRUE TRUE ENSG00000176597.12 . BCM GRCh38.p13 chr3 183270005 183270005 + G G A Silent SNP ENST00000326505.4 exon2 c.G207A p.A69A exonic ENSG00000176597.12 . synonymous SNV ENSG00000176597.12:ENST00000326505.4:exon2:c.G207A:p.A69A 3q27.1 C3L-00277 8.238e-06 0 0 0.0001 0 0 0 0 rs201133824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . B3GNT5 175 0 230 125 0.352112676056338 TRUE NA ENSG00000113621.15 . BCM GRCh38.p13 chr5 134888053 134888053 + G G A Silent SNP ENST00000358387.9 exon2 c.G462A p.A154A exonic ENSG00000113621.15 . synonymous SNV ENSG00000113621.15:ENST00000358387.9:exon2:c.G462A:p.A154A 5q31.1 C3L-00277 1.649e-05 9.634e-05 0 0 0 1.5e-05 0 0 rs143292161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV64379749;OCCURENCE=1(stomach),1(skin) TXNDC15 268 0 464 65 0.122873345935728 TRUE TRUE ENSG00000112659.14 . BCM GRCh38.p13 chr6 43187751 43187751 + C C T Silent SNP ENST00000252050.9 exon7 c.C1620T p.S540S exonic ENSG00000112659.14 . synonymous SNV ENSG00000112659.14:ENST00000252050.9:exon7:c.C1620T:p.S540S 6p21.1 C3L-00277 3.3e-05 0 0 0 0 4.499e-05 0 6.064e-05 rs369198783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CUL9 162 0 248 97 0.281159420289855 TRUE NA ENSG00000188676.13 . BCM GRCh38.p13 chr8 40005367 40005367 + C C T Silent SNP ENST00000502986.2 exon9 c.C747T p.I249I exonic ENSG00000188676.13 . synonymous SNV ENSG00000188676.13:ENST00000502986.2:exon9:c.C747T:p.I249I 8p11.21 C3L-00277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IDO2 54 0 74 32 0.30188679245283 TRUE TRUE ENSG00000137103.20 . BCM GRCh38.p13 chr9 35853669 35853669 + C C T Silent SNP ENST00000377991.9 exon14 c.C1248T p.L416L exonic ENSG00000137103.20 . synonymous SNV ENSG00000137103.20:ENST00000377991.9:exon14:c.C1248T:p.L416L 9p13.3 C3L-00277 . . . . . . . . rs1030771341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM8B 183 0 231 69 0.23 TRUE NA ENSG00000150093.19 . BCM GRCh38.p13 chr10 32928140 32928140 + T T C Silent SNP ENST00000302278.8 exon5 c.A501G p.T167T exonic ENSG00000150093.19 . synonymous SNV ENSG00000150093.19:ENST00000302278.8:exon5:c.A501G:p.T167T 10p11.22 C3L-00277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ITGB1 108 0 149 32 0.176795580110497 TRUE TRUE ENSG00000015133.19 . BCM GRCh38.p13 chr14 91417676 91417676 + G G C Silent SNP ENST00000389857.11 exon1 c.C15G p.V5V exonic ENSG00000015133.19 . synonymous SNV ENSG00000015133.19:ENST00000389857.11:exon1:c.C15G:p.V5V 14q32.12 C3L-00277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCDC88C 158 0 264 120 0.3125 TRUE NA ENSG00000186297.12 . BCM GRCh38.p13 chr15 26937252 26937252 + G G A Silent SNP ENST00000335625.10 exon8 c.G648A p.A216A exonic ENSG00000186297.12 . synonymous SNV ENSG00000186297.12:ENST00000335625.10:exon8:c.G648A:p.A216A 15q12 C3L-00277 8.291e-06 0 0 0 0 1.501e-05 0 0 rs778210544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59476246;OCCURENCE=2(large_intestine),2(central_nervous_system),1(stomach) GABRA5 222 0 323 100 0.236406619385343 TRUE TRUE ENSG00000006788.14 . BCM GRCh38.p13 chr17 10303202 10303202 + C C T Silent SNP ENST00000252172.9 exon39 c.G5661A p.E1887E exonic ENSG00000006788.14 . synonymous SNV ENSG00000006788.14:ENST00000252172.9:exon39:c.G5661A:p.E1887E 17p13.1 C3L-00277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99354622;OCCURENCE=1(skin) MYH13 124 0 205 63 0.235074626865672 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11769124 11769124 + G G A Silent SNP ENST00000262442.9 exon38 c.G7347A p.A2449A exonic ENSG00000007174.18 . synonymous SNV ENSG00000007174.18:ENST00000262442.9:exon38:c.G7347A:p.A2449A 17p12 C3L-00277 . . . . . . . . rs1048445167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH9 232 0 377 82 0.178649237472767 TRUE NA ENSG00000089558.9 . BCM GRCh38.p13 chr17 42165620 42165620 + G G A Silent SNP ENST00000264661.4 exon11 c.C1914T p.F638F exonic ENSG00000089558.9 . synonymous SNV ENSG00000089558.9:ENST00000264661.4:exon11:c.C1914T:p.F638F 17q21.2 C3L-00277 2.473e-05 9.626e-05 0 0 0 2.998e-05 0 0 rs371090330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52917353;OCCURENCE=1(urinary_tract) KCNH4 484 0 582 134 0.187150837988827 TRUE TRUE ENSG00000175221.15 . BCM GRCh38.p13 chr19 881614 881614 + C C T Silent SNP ENST00000325464.6 exon7 c.G1086A p.S362S exonic ENSG00000175221.15 . synonymous SNV ENSG00000175221.15:ENST00000325464.6:exon7:c.G1086A:p.S362S 19p13.3 C3L-00277 1.671e-05 0 0 0 0 1.53e-05 0 6.061e-05 rs757826255 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54125914;OCCURENCE=1(liver) MED16 141 0 248 80 0.24390243902439 TRUE TRUE ENSG00000241973.11 . BCM GRCh38.p13 chr22 20764888 20764888 + G G A Silent SNP ENST00000255882.11 exon22 c.C2637T p.S879S exonic ENSG00000241973.11 . synonymous SNV ENSG00000241973.11:ENST00000255882.11:exon22:c.C2637T:p.S879S 22q11.21 C3L-00277 2.483e-05 0 0 0.0001 0 1.504e-05 0 6.157e-05 rs757543742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PI4KA 79 0 136 16 0.105263157894737 TRUE NA ENSG00000143387.13 . BCM GRCh38.p13 chr1 150807342 150807342 + C C T Intron SNP NA NA NA NA intronic ENSG00000143387.13 . . . 1q21.3 C3L-00277 . . . . . . . . . 1.13 D . . . . N . T N . T T . 0.087 0.230 0.746 . . T T T T T 0.668 8.160 0.963 N N -0.289 1.642 -0.389 1.392 1.000 0.554 0.588 0.492 0.466 . 4.240 3.330 0.230 0.119 0.599 0.000 0.004 0.358 65 . . . . CTSK 199 0 562 43 0.0710743801652893 TRUE TRUE ENSG00000177994.16 . BCM GRCh38.p13 chr2 54381899 54381899 + G G A IGR SNP NA NA NA NA intergenic ENSG00000177994.16;ENSG00000115306.16 dist=20318;dist=74428 . . 2p16.2 C3L-00277 . . . . . . . . . 1.12 D . . . . N . . N 0.138 T T T 0.018 0.172 0.030 . . . T T T T 0.647 7.962 0.320 N N -0.543 1.094 -0.749 0.829 1.000 0.497 0.590 0.547 0.542 . 1.600 1.600 -0.285 0.791 0.596 0.000 0.003 0.003 564 . . . . C2orf73 175 0 274 62 0.18452380952381 TRUE TRUE ENSG00000053108.17 . BCM GRCh38.p13 chr5 133583339 133583339 + C C T Intron SNP NA NA NA NA intronic ENSG00000053108.17 . . . 5q31.1 C3L-00277 . . . . . . . . . 2.13 D D . . . N . T N . T T . 0.061 0.321 0.082 . . . T T T T 0.261 3.834 0.930 N N -0.178 1.940 -0.310 1.544 0.009 0.455 0.590 0.607 0.564 . . . . . . . . . 415 . . . . FSTL4 82 0 108 23 0.175572519083969 TRUE NA ENSG00000255108.1 . BCM GRCh38.p13 chr11 829181 829181 + C C T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000255108.1 . . . 11p15.5 C3L-00277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP006621.1 54 0 115 23 0.166666666666667 TRUE NA ENSG00000117713.20 . BCM GRCh38.p13 chr1 26763101 26763101 + - NA A Nonsense_Mutation SNP ENST00000324856.13 exon8 c.2549dupA p.Y850* exonic ENSG00000117713.20 . stopgain ENSG00000117713.20:ENST00000324856.13:exon8:c.2549dupA:p.Y850* 1p36.11 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID1A NA NA NA NA NA NA NA ENSG00000265972.6 . BCM GRCh38.p13 chr1 145994663 145994663 + T T C Missense_Mutation SNP ENST00000582401.6 exon5 c.A712G p.R238G exonic ENSG00000265972.6 . nonsynonymous SNV ENSG00000265972.6:ENST00000582401.6:exon5:c.A712G:p.R238G 1q21.1 C3L-01328 . . . . . . . . . 5.7 D D . . . . . T D 0.888 . . . . . . . . T . . . D 4.110 27.800 . . D . . . . . . . . . . . . 1.934 1.137 0.661 0.995 1.000 0.996 958 Arrestin_C-terminal-like_domain . . . TXNIP 733 0 1117 100 0.0821692686935086 TRUE TRUE ENSG00000122224.18 . BCM GRCh38.p13 chr1 160796227 160796227 + G G A Missense_Mutation SNP ENST00000263285.11 exon1 c.G40A p.G14R exonic ENSG00000122224.18 . nonsynonymous SNV ENSG00000122224.18:ENST00000263285.11:exon1:c.G40A:p.G14R 1q23.3 C3L-01328 1.648e-05 0 0 0 0 2.998e-05 0 0 rs369975202 0.18 T T B B . N . T N 0.143 T T T 0.010 . 0.346 0.072 T T T T T T 1.018 11.850 0.527 N N -1.151 0.263 -1.179 0.301 1.000 0.500 0.522 0.624 0.564 . 2.860 0.959 0.322 0.062 0.575 0.000 0.001 0.027 789 . . . . LY9 220 0 403 28 0.0649651972157773 TRUE NA ENSG00000116183.11 . BCM GRCh38.p13 chr1 176739725 176739725 + T T C Missense_Mutation SNP ENST00000367662.5 exon13 c.T3898C p.Y1300H exonic ENSG00000116183.11 . nonsynonymous SNV ENSG00000116183.11:ENST00000367662.5:exon13:c.T3898C:p.Y1300H 1q25.2 C3L-01328 . . . . . . . . . 0.20 T T B B N N N T N 0.117 T T T 0.057 0.544 0.234 0.223 T T T T T T 0.723 8.664 0.128 N N -1.284 0.174 -1.221 0.266 0.000 0.487 0.574 0.574 0.564 . 5.670 1.060 1.385 -0.632 -0.135 0.124 0.001 0.033 730 . . . . PAPPA2 306 0 411 69 0.14375 TRUE TRUE ENSG00000143341.12 . BCM GRCh38.p13 chr1 186189628 186189628 + G G A Missense_Mutation SNP ENST00000271588.9 exon107 c.G16658A p.R5553Q exonic ENSG00000143341.12 . nonsynonymous SNV ENSG00000143341.12:ENST00000271588.9:exon107:c.G16658A:p.R5553Q 1q31.1 C3L-01328 1.673e-05 9.747e-05 0 0.0001 0 0 0 0 rs148530862 16.20 D D D D D D M T D 0.520 D D T 0.565 . 0.893 0.447 T T D D D D 4.389 31 0.999 D D 0.904 11.155 0.909 14.140 1.000 0.706 0.588 0.710 0.563 . 5.910 5.910 9.940 1.176 0.676 1.000 1.000 1.000 662 . . . ID=COSV54897273;OCCURENCE=1(stomach) HMCN1 137 0 140 50 0.263157894736842 TRUE TRUE ENSG00000170802.16 . BCM GRCh38.p13 chr2 48374931 48374931 + C C T Missense_Mutation SNP ENST00000340553.8 exon7 c.C784T p.L262F exonic ENSG00000170802.16 . nonsynonymous SNV ENSG00000170802.16:ENST00000340553.8:exon7:c.C784T:p.L262F 2p16.3 C3L-01328 . . . . . . . . . 8.20 D T B B N D L D N 0.254 D D D 0.206 0.403 0.966 0.087 T T T T D T 2.197 20.800 0.998 D N 0.001 2.515 0.112 2.786 0.999 0.563 0.654 0.609 0.636 . 5.080 4.200 2.639 1.025 0.599 0.988 1.000 0.999 687 . . . . FOXN2 100 0 164 12 0.0681818181818182 TRUE TRUE ENSG00000214336.5 . BCM GRCh38.p13 chr2 88448458 88448458 + G G A Missense_Mutation SNP ENST00000428390.3 exon2 c.C1012T p.R338C exonic ENSG00000214336.5 . nonsynonymous SNV ENSG00000214336.5:ENST00000428390.3:exon2:c.C1012T:p.R338C 2p11.2 C3L-01328 . . . . . . . . rs922394321 3.10 . T D P . . M . . 0.100 . . . . . 0.401 . T T T T . T 4.155 28.200 0.575 D . . . . . 0.964 0.134 0.085 0.184 0.075 0.178 4.130 3.250 2.581 1.176 -0.135 1.000 0.971 0.004 818 . . . . FOXI3 639 0 786 216 0.215568862275449 TRUE NA ENSG00000175874.10 . BCM GRCh38.p13 chr2 101383577 101383577 + G G - Frame_Shift_Del NA ENST00000324768.6 exon2 c.567delC p.M190Wfs*4 exonic ENSG00000175874.10 . frameshift deletion ENSG00000175874.10:ENST00000324768.6:exon2:c.567delC:p.M190Wfs*4 2q11.2 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CREG2 399 0 569 63 0.0996835443037975 TRUE TRUE ENSG00000213672.8 . BCM GRCh38.p13 chr3 48679842 48679842 + C C T Missense_Mutation SNP ENST00000294129.7 exon7 c.G1309A p.E437K exonic ENSG00000213672.8 . nonsynonymous SNV ENSG00000213672.8:ENST00000294129.7:exon7:c.G1309A:p.E437K 3p21.31 C3L-01328 8.251e-05 0 0.0002 0 0 0 0 0.0005 rs201067488 3.20 T T B B U N L T N 0.475 T T D 0.045 . 0.775 0.154 T T T T T D 1.984 19.130 0.996 D N -0.025 2.424 -0.021 2.290 1.000 0.646 0.696 0.702 0.636 . 5.200 4.320 1.888 1.026 0.599 0.989 0.615 0.812 3 . . . . NCKIPSD 375 0 372 136 0.267716535433071 TRUE NA ENSG00000144909.8 . BCM GRCh38.p13 chr3 125532005 125532005 + C C T Nonsense_Mutation SNP ENST00000296220.6 exon12 c.G2034A p.W678X exonic ENSG00000144909.8 . stopgain ENSG00000144909.8:ENST00000296220.6:exon12:c.G2034A:p.W678X 3q21.2 C3L-01328 . . . . . . . . . 5.6 . . . . D A . . . 0.367 . . . . . . . . . D D . . 8.536 43 0.995 D N 0.869 10.280 0.724 8.228 1.000 0.732 0.744 0.744 0.714 . 4.710 4.710 7.314 0.947 0.599 1.000 0.999 0.995 895 . . . . OSBPL11 173 0 235 27 0.103053435114504 TRUE TRUE ENSG00000137601.17 . BCM GRCh38.p13 chr4 169585428 169585428 + G G T Missense_Mutation SNP ENST00000439128.6 exon9 c.C728A p.P243H exonic ENSG00000137601.17 . nonsynonymous SNV ENSG00000137601.17:ENST00000439128.6:exon9:c.C728A:p.P243H 4q33 C3L-01328 . . . . . . . . . 15.20 D D D D D D M T D 0.926 T T D 0.720 0.754 0.678 0.373 T T D D D D 4.085 27.600 0.997 D D 0.987 13.525 0.951 16.141 1.000 0.651 0.654 0.659 0.684 . 5.680 5.680 9.860 1.176 0.618 1.000 1.000 0.996 951 Protein_kinase_domain . . ID=COSV71457147;OCCURENCE=1(endometrium) NEK1 263 0 356 79 0.181609195402299 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971121 21971121 + G G A Nonsense_Mutation SNP ENST00000304494.9 exon2 c.C238T p.R80X exonic ENSG00000147889.17 . stopgain ENSG00000147889.17:ENST00000304494.9:exon2:c.C238T:p.R80X 9p21.3 C3L-01328 . . . . . . . . rs121913388 9.16 T D . . N D . D D 0.305 T T . 0.480 . 0.977 . T T D D D T 7.418 38 0.998 D D 0.265 3.604 0.302 3.727 1.000 0.677 0.383 0.608 0.601 . 5.930 5.010 1.260 1.176 0.676 0.882 0.552 0.951 900 . . . ID=COSV58682746;OCCURENCE=1(salivary_gland),2(breast),17(penis),1(liver),29(oesophagus),6(large_intestine),4(central_nervous_system),9(biliary_tract),11(vulva),5(ovary),2(bone),7(NS),3(stomach),19(haematopoietic_and_lymphoid_tissue),2(soft_tissue),2(kidney),6(urinary_tract),26(pancreas),49(skin),1(prostate),15(lung),7(thyroid),70(upper_aerodigestive_tract),2(thymus),1(small_intestine),3(endometrium) CDKN2A 643 0 725 249 0.25564681724846 TRUE TRUE ENSG00000106799.13 . BCM GRCh38.p13 chr9 99144809 99144809 + G G A Missense_Mutation SNP ENST00000374994.9 exon6 c.G1051A p.D351N exonic ENSG00000106799.13 . nonsynonymous SNV ENSG00000106799.13:ENST00000374994.9:exon6:c.G1051A:p.D351N 9q22.33 C3L-01328 . . . . . . . . . 19.20 D D D D D D H D D 0.978 D D D 0.852 0.969 0.976 1.636 D T D D D D 4.436 31 0.999 D D 1.201 23.785 1.102 27.323 1.000 0.732 0.725 0.725 0.728 . 5.730 5.730 9.988 1.176 0.676 1.000 1.000 0.998 477 Protein_kinase_domain . . . TGFBR1 450 0 407 106 0.206627680311891 TRUE TRUE ENSG00000111241.2 . BCM GRCh38.p13 chr12 4445495 4445495 + C C T Missense_Mutation SNP ENST00000228837.2 exon1 c.G76A p.V26I exonic ENSG00000111241.2 . nonsynonymous SNV ENSG00000111241.2:ENST00000228837.2:exon1:c.G76A:p.V26I 12p13.32 C3L-01328 2.487e-05 9.697e-05 0 0 0 1.506e-05 0 6.121e-05 rs767850309 1.20 T T B B N D N T N 0.079 T T T 0.022 0.343 0.244 0.174 T T T T T T -0.260 0.380 0.925 N N -1.093 0.313 -0.956 0.546 0.709 0.616 0.590 0.575 0.542 . 5.000 -0.352 -0.478 -0.241 -0.831 0.002 0.997 0.899 850 . . . ID=COSV57404471;OCCURENCE=1(large_intestine) FGF6 244 0 296 272 0.47887323943662 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-01328 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 506 0 543 358 0.397336293007769 TRUE TRUE ENSG00000132970.14 . BCM GRCh38.p13 chr13 26682705 26682705 + G G A Missense_Mutation SNP ENST00000335327.6 exon9 c.G1082A p.S361N exonic ENSG00000132970.14 . nonsynonymous SNV ENSG00000132970.14:ENST00000335327.6:exon9:c.G1082A:p.S361N 13q12.13 C3L-01328 . . . . . . . . . 6.20 D T P P N D M T N 0.553 T T D 0.116 0.189 0.220 0.909 T T T T D T 2.933 23.300 0.995 D N 0.424 4.493 0.427 4.552 1.000 0.732 0.574 0.744 0.714 . 5.690 4.830 3.536 1.175 0.676 1.000 0.999 0.985 928 . . . . WASF3 683 1 669 85 0.112732095490716 TRUE TRUE ENSG00000102531.16 . BCM GRCh38.p13 chr13 49131150 49131150 + A A G Missense_Mutation SNP ENST00000492622.6 exon5 c.A266G p.N89S exonic ENSG00000102531.16 . nonsynonymous SNV ENSG00000102531.16:ENST00000492622.6:exon5:c.A266G:p.N89S 13q14.2 C3L-01328 4.12e-05 0 0 0 0 1.499e-05 0 0.0002 rs774395306 11.20 T T D D D D M T D 0.835 T T T 0.194 0.473 0.454 0.352 T D T T D D 3.063 23.500 0.997 D D 0.345 4.017 0.367 4.133 1.000 0.707 0.698 0.725 0.714 . 5.650 4.480 7.708 0.321 -0.050 1.000 1.000 0.997 466 . . . ID=COSV65696263;OCCURENCE=1(urinary_tract) FNDC3A 307 0 404 60 0.129310344827586 TRUE TRUE ENSG00000102539.5 . BCM GRCh38.p13 chr13 49222291 49222291 + G G A Missense_Mutation SNP ENST00000218721.1 exon2 c.G1153A p.D385N exonic ENSG00000102539.5 . nonsynonymous SNV ENSG00000102539.5:ENST00000218721.1:exon2:c.G1153A:p.D385N 13q14.2 C3L-01328 . . . . . . . . . 0.20 T T B B U N N T N 0.168 T T T 0.112 0.238 0.402 . T T T T T T 1.204 13.670 0.602 N N -1.431 0.104 -1.424 0.140 1.000 0.516 0.610 0.616 0.530 . 4.720 -1.410 1.828 -0.533 -0.712 0.223 0.009 0.040 665 . . . . MLNR 502 0 583 65 0.100308641975309 TRUE TRUE ENSG00000102452.17 . BCM GRCh38.p13 chr13 101061978 101061978 + C C T Missense_Mutation SNP ENST00000251127.11 exon41 c.G4745A p.R1582H exonic ENSG00000102452.17 . nonsynonymous SNV ENSG00000102452.17:ENST00000251127.11:exon41:c.G4745A:p.R1582H 13q32.3 C3L-01328 8.327e-06 0 0 0.0001 0 0 0 0 rs764045715 19.20 D D D D D D L D D 0.677 D D D 0.664 0.436 0.687 2.726 D D D D D D 4.221 28.900 1.000 D D 0.739 7.706 0.769 9.257 1.000 0.638 0.574 0.574 0.668 . 5.820 5.820 7.353 1.026 0.599 1.000 0.999 0.977 846 . . . ID=COSV51954405;OCCURENCE=1(thyroid) NALCN 160 1 194 28 0.126126126126126 TRUE TRUE ENSG00000128918.15 . BCM GRCh38.p13 chr15 57963932 57963932 + G G A Missense_Mutation SNP ENST00000249750.9 exon9 c.C1039T p.R347C exonic ENSG00000128918.15 . nonsynonymous SNV ENSG00000128918.15:ENST00000249750.9:exon9:c.C1039T:p.R347C 15q21.3 C3L-01328 2.472e-05 0 0 0 0 2.999e-05 0 6.058e-05 rs778997757 13.20 D T B B D D L T D 0.780 T T D 0.545 0.423 0.936 1.358 D D D D D D 5.111 33 0.999 D D 0.235 3.462 0.371 4.160 0.948 0.706 0.590 0.574 0.613 . 5.600 4.640 4.495 1.172 0.671 1.000 1.000 0.995 871 Aldehyde_dehydrogenase_domain . . ID=COSV51092676;OCCURENCE=2(stomach),1(skin) ALDH1A2 322 0 376 98 0.206751054852321 TRUE TRUE ENSG00000103888.17 . BCM GRCh38.p13 chr15 80884313 80884313 + G G A Missense_Mutation SNP ENST00000394685.8 exon7 c.G756A p.M252I exonic ENSG00000103888.17 . nonsynonymous SNV ENSG00000103888.17:ENST00000394685.8:exon7:c.G756A:p.M252I 15q25.1 C3L-01328 8.249e-06 0 0 0 0 0 0 6.062e-05 rs562341405 3.20 T T B B D D N T N 0.365 T T T 0.056 0.412 0.472 0.411 T T T T T T 1.960 18.950 0.571 D N -0.452 1.272 -0.183 1.827 0.998 0.161 0.563 0.409 0.530 . 5.380 5.380 3.094 1.136 0.665 1.000 0.994 0.990 934 Cell_surface_hyaluronidase,_PANDER-like_domain;ILEI/PANDER_domain . . . CEMIP 702 0 832 87 0.0946681175190424 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674220 7674220 + C C T Missense_Mutation SNP ENST00000269305.8 exon7 c.G743A p.R248Q exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.G743A:p.R248Q 17p13.1 C3L-01328 5.768e-05 0 0 0.0002 0 7.493e-05 0 0 rs11540652 19.20 D D D D D A M D D 0.946 D D D 0.934 . 0.975 0.412 T D D D D D 4.282 29.400 0.999 D D 0.660 6.591 0.561 5.765 0.799 0.722 0.702 0.725 0.735 . 4.620 3.650 6.163 1.021 0.596 1.000 0.981 0.841 433 p53,_DNA-binding_domain . . ID=COSV52661580;OCCURENCE=3(salivary_gland),148(breast),3(penis),1(peritoneum),13(liver),1(genital_tract),73(oesophagus),2(adrenal_gland),1(meninges),4(cervix),277(large_intestine),71(central_nervous_system),10(biliary_tract),3(pleura),11(vulva),57(ovary),8(bone),8(NS),70(stomach),116(haematopoietic_and_lymphoid_tissue),6(soft_tissue),8(kidney),57(urinary_tract),34(pancreas),1(pituitary),23(skin),46(prostate),53(lung),18(thyroid),74(upper_aerodigestive_tract),1(testis),1(eye),1(thymus),11(small_intestine),44(endometrium) TP53 442 0 444 211 0.322137404580153 TRUE TRUE ENSG00000198445.4 . BCM GRCh38.p13 chr22 16591778 16591778 + G G A Missense_Mutation SNP ENST00000359963.4 exon1 c.C773T p.T258M exonic ENSG00000198445.4 . nonsynonymous SNV ENSG00000198445.4:ENST00000359963.4:exon1:c.C773T:p.T258M 22q11.1 C3L-01328 0.0002 0 0 0 0 0.0001 0 0.0006 rs147789853 7.19 D D D P N N . T D 0.150 T D T 0.168 . 0.289 0.419 T D T T D T 1.755 17.410 0.991 N N -0.605 0.979 -0.925 0.586 0.000 0.487 0.574 0.578 0.564 . 1.980 -0.751 0.473 -1.363 -0.474 0.001 0.001 0.045 994 . . . ID=COSV63461617;OCCURENCE=1(ovary),1(NS),1(skin),2(prostate),1(endometrium) CCT8L2 644 1 753 113 0.130484988452656 NA TRUE ENSG00000171603.18 . BCM GRCh38.p13 chr1 9751651 9751651 + C C A Silent SNP ENST00000377298.9 exon5 c.G471T p.V157V exonic ENSG00000171603.18 . synonymous SNV ENSG00000171603.18:ENST00000377298.9:exon5:c.G471T:p.V157V 1p36.22 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CLSTN1 364 1 561 72 0.113744075829384 TRUE TRUE ENSG00000142920.17 . BCM GRCh38.p13 chr1 33118036 33118036 + C C T Silent SNP ENST00000294517.11 exon11 c.C1164T p.G388G exonic ENSG00000142920.17 . synonymous SNV ENSG00000142920.17:ENST00000294517.11:exon11:c.C1164T:p.G388G 1p35.1 C3L-01328 8.042e-05 0.0002 8.696e-05 0.0002 0 6.224e-05 0 0 rs61737104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53860705;OCCURENCE=1(oesophagus) AZIN2 102 0 114 35 0.23489932885906 TRUE TRUE ENSG00000138678.11 . BCM GRCh38.p13 chr4 83588213 83588213 + C C T Silent SNP ENST00000264409.5 exon5 c.C558T p.L186L exonic ENSG00000138678.11 . synonymous SNV ENSG00000138678.11:ENST00000264409.5:exon5:c.C558T:p.L186L 4q21.23 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GPAT3 257 0 346 78 0.183962264150943 TRUE TRUE ENSG00000147596.4 . BCM GRCh38.p13 chr8 70069561 70069561 + C C T Silent SNP ENST00000276594.3 exon2 c.G300A p.P100P exonic ENSG00000147596.4 . synonymous SNV ENSG00000147596.4:ENST00000276594.3:exon2:c.G300A:p.P100P 8q13.3 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM14 118 0 140 36 0.204545454545455 TRUE TRUE ENSG00000174576.10 . BCM GRCh38.p13 chr11 66422483 66422483 + C C T Silent SNP ENST00000311034.7 exon3 c.C360T p.Y120Y exonic ENSG00000174576.10 . synonymous SNV ENSG00000174576.10:ENST00000311034.7:exon3:c.C360T:p.Y120Y 11q13.2 C3L-01328 7.414e-05 0 0 0.0002 0 7.492e-05 0 0.0001 rs377576767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60651020;OCCURENCE=4(large_intestine),1(central_nervous_system),2(stomach),1(lung),1(endometrium) NPAS4 468 1 629 67 0.0962643678160919 TRUE TRUE ENSG00000139351.15 . BCM GRCh38.p13 chr12 101737891 101737891 + C C T Silent SNP ENST00000392924.2 exon2 c.G45A p.P15P exonic ENSG00000139351.15 . synonymous SNV ENSG00000139351.15:ENST00000392924.2:exon2:c.G45A:p.P15P 12q23.2 C3L-01328 1.647e-05 0 0 0 0 2.997e-05 0 0 rs566435135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SYCP3 535 0 592 167 0.220026350461133 TRUE NA ENSG00000157895.11 . BCM GRCh38.p13 chr12 121011106 121011106 + G G C Silent SNP ENST00000288757.7 exon2 c.C186G p.L62L exonic ENSG00000157895.11 . synonymous SNV ENSG00000157895.11:ENST00000288757.7:exon2:c.C186G:p.L62L 12q24.31 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C12orf43 435 0 528 116 0.180124223602484 TRUE TRUE ENSG00000108309.14 . BCM GRCh38.p13 chr17 44316472 44316472 + G G A Silent SNP ENST00000426726.8 exon9 c.G1041A p.L347L exonic ENSG00000108309.14 . synonymous SNV ENSG00000108309.14:ENST00000426726.8:exon9:c.G1041A:p.L347L 17q21.31 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RUNDC3A 226 0 276 88 0.241758241758242 TRUE TRUE ENSG00000172519.9 . BCM GRCh38.p13 chr19 15794147 15794147 + G G C Silent SNP ENST00000642092.1 exon2 c.G99C p.L33L exonic ENSG00000172519.9 . synonymous SNV ENSG00000172519.9:ENST00000642092.1:exon2:c.G99C:p.L33L 19p13.12 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100454611;OCCURENCE=1(lung) OR10H5 268 0 379 38 0.0911270983213429 NA TRUE ENSG00000105643.10 . BCM GRCh38.p13 chr19 18008565 18008565 + C C T Silent SNP ENST00000222250.5 exon1 c.C255T p.R85R exonic ENSG00000105643.10 . synonymous SNV ENSG00000105643.10:ENST00000222250.5:exon1:c.C255T:p.R85R 19p13.11 C3L-01328 8.027e-05 0 0 0.0005 0 0.0001 0 0 rs779259957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARRDC2 174 0 335 94 0.219114219114219 TRUE NA ENSG00000197213.9 . BCM GRCh38.p13 chr19 56190073 56190073 + G G A Silent SNP ENST00000586855.6 exon5 c.C1242T p.D414D exonic ENSG00000197213.9 . synonymous SNV ENSG00000197213.9:ENST00000586855.6:exon5:c.C1242T:p.D414D 19q13.43 C3L-01328 0.0003 0.0034 0.0002 0 0 2.997e-05 0 6.056e-05 rs199617146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV62000266;OCCURENCE=1(large_intestine) ZSCAN5B 371 0 348 112 0.243478260869565 TRUE TRUE ENSG00000163395.17 . BCM GRCh38.p13 chr1 201212833 201212833 + G G A Intron SNP NA NA NA NA intronic ENSG00000163395.17 . . . 1q32.1 C3L-01328 . . . . . . . . . 2.15 D D . . . N . T N 0.101 T T T 0.033 . 0.214 . T . T T T T 1.478 15.590 0.688 N N -0.595 0.997 -0.680 0.929 0.000 0.500 0.590 0.624 0.542 . 3.210 2.260 0.220 1.167 0.608 0.000 0.236 0.095 917 . . . . IGFN1 184 0 288 64 0.181818181818182 TRUE NA ENSG00000151136.15 . BCM GRCh38.p13 chr12 107649294 107649294 + G G A Intron SNP NA NA NA NA intronic ENSG00000151136.15 . . . 12q23.3 C3L-01328 . . . . . . . . . 1.15 D . B B . N . T N 0.070 T T T 0.015 0.303 0.068 . . . T T T T -1.220 0.002 0.554 N N -1.565 0.063 -1.731 0.045 1.000 0.497 0.590 0.547 0.542 . 3.330 -6.650 -4.501 -3.508 -1.809 0.000 0.000 0.000 783 . . . . BTBD11 211 0 281 41 0.127329192546584 TRUE NA ENSG00000109511.12 . BCM GRCh38.p13 chr4 168184587 168184588 + TC TC CA Unknown MNP ENST00000359299.8 exon11 c.812_813delinsCA p.I271T exonic ENSG00000109511.12 . nonframeshift substitution ENSG00000109511.12:ENST00000359299.8:exon11:c.812_813delinsCA:p.I271T 4q32.3 C3L-01328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANXA10 287 0 375 5 0.0131578947368421 TRUE NA ENSG00000204478.9 . BCM GRCh38.p13 chr1 13418418 13418418 + T T C Missense_Mutation SNP ENST00000316412.9 exon3 c.T584C p.I195T exonic ENSG00000204478.9 . nonsynonymous SNV ENSG00000204478.9:ENST00000316412.9:exon3:c.T584C:p.I195T 1p36.21 C3L-03639 . . . . . . . . . 3.17 D D . . N N . T D 0.287 T T T 0.072 0.692 0.030 . T T T T T T 0.159 2.672 0.828 N N -0.542 1.094 -0.781 0.784 0.000 0.487 0.574 0.574 0.564 . 1.680 1.680 -1.152 0.704 0.588 0.000 0.004 0.004 982 . . . . PRAMEF20 912 0 1039 224 0.17735550277118 TRUE TRUE ENSG00000169291.10 . BCM GRCh38.p13 chr1 154489204 154489204 + C C T Missense_Mutation SNP ENST00000304760.3 exon3 c.G871A p.D291N exonic ENSG00000169291.10 . nonsynonymous SNV ENSG00000169291.10:ENST00000304760.3:exon3:c.G871A:p.D291N 1q21.3 C3L-03639 0.0003 9.737e-05 0 0 0 9.028e-05 0.0011 0.0015 rs12043246 13.20 D D D D D D M T D 0.923 T T D 0.325 . 0.782 1.121 T D T T T D 3.466 24.600 0.999 D D 0.752 7.915 0.677 7.338 1.000 0.722 0.547 0.602 0.735 . 5.610 5.610 5.796 1.026 0.599 1.000 0.796 0.073 425 . . . ID=COSV59072909;OCCURENCE=1(stomach) SHE 415 0 699 70 0.0910273081924577 TRUE TRUE ENSG00000160838.14 . BCM GRCh38.p13 chr1 156924691 156924691 + C C T Missense_Mutation SNP ENST00000337428.8 exon4 c.C488T p.P163L exonic ENSG00000160838.14 . nonsynonymous SNV ENSG00000160838.14:ENST00000337428.8:exon4:c.C488T:p.P163L 1q23.1 C3L-03639 . . . . . . . . . 9.20 D T D D N D M T D 0.445 T T D 0.265 0.463 0.486 0.697 T T T T D T 3.478 24.600 0.998 D N 0.402 4.357 0.312 3.787 1.000 0.583 0.563 0.616 0.621 . 3.670 3.670 5.420 0.867 0.450 0.999 0.700 0.450 415 . . . . LRRC71 365 0 616 104 0.144444444444444 TRUE TRUE ENSG00000163554.15 . BCM GRCh38.p13 chr1 158666363 158666363 + G G A Nonsense_Mutation SNP ENST00000643759.2 exon16 c.C2173T p.R725X exonic ENSG00000163554.15 . stopgain ENSG00000163554.15:ENST00000643759.2:exon16:c.C2173T:p.R725X 1q23.1 C3L-03639 . . . . . . . . . 4.6 . . . . N A . . . 0.840 . . . . . . . . . D D . . 7.420 38 0.995 D N 0.240 3.487 -0.024 2.279 0.001 0.487 0.574 0.574 0.564 . 4.550 2.620 4.389 -0.755 -0.890 1.000 0.294 0.116 603 . . . ID=COSV63749301;OCCURENCE=1(central_nervous_system),1(prostate),1(endometrium) SPTA1 435 0 631 103 0.140326975476839 TRUE TRUE ENSG00000018625.15 . BCM GRCh38.p13 chr1 160129007 160129007 + C C T Missense_Mutation SNP ENST00000361216.8 exon10 c.C1244T p.T415M exonic ENSG00000018625.15 . nonsynonymous SNV ENSG00000018625.15:ENST00000361216.8:exon10:c.C1244T:p.T415M 1q23.2 C3L-03639 2.459e-05 0 0.0003 0 0 0 0 0 rs121918618 18.20 D D D D D A M T D 0.865 D D D 0.785 0.781 0.945 1.764 T D D D D D 3.486 24.700 0.998 D D 0.374 4.188 0.246 3.415 1.000 0.719 0.590 0.723 0.542 . 4.130 4.130 7.905 1.013 0.599 1.000 0.954 0.819 851 . . . ID=COSV63406206;OCCURENCE=1(kidney) ATP1A2 507 1 850 113 0.117341640706127 TRUE TRUE ENSG00000158859.10 . BCM GRCh38.p13 chr1 161195635 161195635 + C C T Missense_Mutation SNP ENST00000367996.6 exon4 c.G1091A p.G364D exonic ENSG00000158859.10 . nonsynonymous SNV ENSG00000158859.10:ENST00000367996.6:exon4:c.G1091A:p.G364D 1q23.3 C3L-03639 . . . . . . . . . 19.20 D T D D D D M D D 0.956 D D D 0.983 0.863 0.990 1.139 D D D D D D 4.129 28.000 0.998 D D 0.857 9.990 0.713 8.006 1.000 0.732 0.492 0.744 0.735 . 4.630 4.630 7.568 1.026 0.599 1.000 0.614 0.405 413 Peptidase_M12B,_ADAM/reprolysin . . . ADAMTS4 87 0 143 20 0.122699386503067 TRUE TRUE ENSG00000162761.14 . BCM GRCh38.p13 chr1 165249559 165249559 + G G C Nonsense_Mutation SNP ENST00000342310.7 exon4 c.C345G p.Y115X exonic ENSG00000162761.14 . stopgain ENSG00000162761.14:ENST00000342310.7:exon4:c.C345G:p.Y115X 1q23.3 C3L-03639 . . . . . . . . . 5.6 . . . . D A . . . 0.921 . . . . . . . . . D D . . 8.297 42 0.998 D N 0.826 9.302 0.685 7.479 1.000 0.616 0.574 0.618 0.564 . 4.610 4.610 4.960 1.176 0.618 1.000 0.998 0.999 916 Zinc_finger,_LIM-type . . . LMX1A 367 0 606 38 0.0590062111801242 TRUE TRUE ENSG00000198771.11 . BCM GRCh38.p13 chr1 167697690 167697690 + G G C Missense_Mutation SNP ENST00000367854.8 exon6 c.G1066C p.V356L exonic ENSG00000198771.11 . nonsynonymous SNV ENSG00000198771.11:ENST00000367854.8:exon6:c.G1066C:p.V356L 1q24.2 C3L-03639 . . . . . . . . . 0.20 T T B B N N L T N 0.084 T T T 0.011 0.220 0.272 0.030 T T T T T T 0.352 4.890 0.844 N N -1.062 0.341 -1.108 0.367 0.994 0.672 0.702 0.602 0.542 . 4.640 -1.260 -0.034 0.224 0.618 0.000 0.029 0.163 872 . . . . RCSD1 86 0 146 15 0.093167701863354 TRUE TRUE ENSG00000010165.20 . BCM GRCh38.p13 chr1 171796740 171796740 + C C T Missense_Mutation SNP ENST00000361735.4 exon8 c.C2084T p.T695M exonic ENSG00000010165.20 . nonsynonymous SNV ENSG00000010165.20:ENST00000361735.4:exon8:c.C2084T:p.T695M 1q24.3 C3L-03639 3.31e-05 0 0 0.0001 0 4.515e-05 0 0 rs575314244 1.20 T T P B N N L T N 0.124 T T T 0.020 0.340 0.396 0.229 T T T T T T 1.252 14.040 0.969 D N -0.229 1.796 -0.121 1.988 1.000 0.707 0.725 0.725 0.714 . 5.640 4.730 2.485 0.129 -0.171 0.965 0.832 0.212 686 . . . ID=COSV62283000;OCCURENCE=1(breast),1(endometrium) EEF1AKNMT 217 0 296 39 0.116417910447761 TRUE TRUE ENSG00000158715.6 . BCM GRCh38.p13 chr1 205659331 205659331 + G G A Missense_Mutation SNP ENST00000367145.4 exon5 c.C1565T p.A522V exonic ENSG00000158715.6 . nonsynonymous SNV ENSG00000158715.6:ENST00000367145.4:exon5:c.C1565T:p.A522V 1q32.1 C3L-03639 . . . . . . . . . 8.20 T T P B D D M T N 0.554 T T T 0.418 0.351 0.398 0.533 T T D D D T 3.517 24.800 0.999 D D 0.530 5.279 0.652 6.946 1.000 0.713 0.546 0.636 0.684 . 5.880 5.880 9.941 1.176 0.618 1.000 0.991 0.995 686 . . . . SLC45A3 370 1 379 47 0.110328638497653 TRUE TRUE ENSG00000182795.13 . BCM GRCh38.p13 chr1 207027567 207027567 + G G A Missense_Mutation SNP ENST00000359470.6 exon2 c.C32T p.T11I exonic ENSG00000182795.13 . nonsynonymous SNV ENSG00000182795.13:ENST00000359470.6:exon2:c.C32T:p.T11I 1q32.1 C3L-03639 . . . . . . . . . 1.15 T T . . N D . T N 0.114 T T T 0.058 0.162 0.030 0.077 . . T T T T 2.402 22.100 0.993 N N -0.447 1.283 -0.219 1.741 1.000 0.497 0.563 0.496 0.542 . 5.630 3.740 2.220 0.245 0.676 1.000 0.898 0.990 784 . . . . C1orf116 342 0 505 60 0.106194690265487 TRUE TRUE ENSG00000143473.13 . BCM GRCh38.p13 chr1 210804146 210804146 + A A C Missense_Mutation SNP ENST00000271751.10 exon8 c.T1483G p.F495V exonic ENSG00000143473.13 . nonsynonymous SNV ENSG00000143473.13:ENST00000271751.10:exon8:c.T1483G:p.F495V 1q32.2 C3L-03639 . . . . . . . . . 19.20 D D D D D D L D D 0.823 D D D 0.931 0.566 0.997 2.854 D D D D D D 4.017 27.100 0.992 D D 0.712 7.295 0.729 8.329 1.000 0.500 0.624 0.624 0.564 . 5.660 5.660 8.987 1.312 0.756 1.000 0.997 0.952 934 Ion_transport_domain . . ID=COSV55068201;OCCURENCE=1(oesophagus) KCNH1 257 1 349 41 0.105128205128205 TRUE TRUE ENSG00000144229.12 . BCM GRCh38.p13 chr2 137272601 137272601 + T T G Missense_Mutation SNP ENST00000409968.6 exon11 c.T2335G p.C779G exonic ENSG00000144229.12 . nonsynonymous SNV ENSG00000144229.12:ENST00000409968.6:exon11:c.T2335G:p.C779G 2q22.1 C3L-03639 . . . . . . . . . 14.19 D D D D D D . T D 0.877 T T D 0.558 0.675 0.770 0.339 T T D D D D 4.159 28.300 0.988 D D 0.893 10.883 0.839 11.381 0.991 0.554 0.574 0.602 0.564 . 5.720 5.720 7.226 1.138 0.665 1.000 0.999 0.992 822 . . . . THSD7B 300 1 302 32 0.0958083832335329 TRUE TRUE ENSG00000168702.18 . BCM GRCh38.p13 chr2 141229236 141229236 + T T A Missense_Mutation SNP ENST00000389484.8 exon6 c.A797T p.K266I exonic ENSG00000168702.18 . nonsynonymous SNV ENSG00000168702.18:ENST00000389484.8:exon6:c.A797T:p.K266I 2q22.1 C3L-03639 . . . . . . . . . 11.20 D D P P U D M D N 0.529 D D D 0.560 0.602 0.419 0.344 T T D T D T 2.900 23.200 0.990 D N 0.204 3.320 0.219 3.276 0.005 0.487 0.574 0.574 0.564 . 5.200 3.990 1.531 1.138 0.609 1.000 1.000 0.998 639 . . . . LRP1B 267 0 185 84 0.312267657992565 TRUE TRUE ENSG00000153253.18 . BCM GRCh38.p13 chr2 165139592 165139592 + G G A Missense_Mutation SNP ENST00000360093.7 exon14 c.C2036T p.T679M exonic ENSG00000153253.18 . nonsynonymous SNV ENSG00000153253.18:ENST00000360093.7:exon14:c.C2036T:p.T679M 2q24.3 C3L-03639 4.123e-05 9.614e-05 8.681e-05 0 0 2.999e-05 0.0011 0 rs139860168 16.20 D T D P D D M D D 0.572 D D D 0.541 . 0.745 1.010 T D T D D D 2.482 22.400 0.995 D D 0.622 6.151 0.670 7.228 1.000 0.487 0.547 0.574 0.564 . 5.650 5.650 5.774 1.176 0.676 1.000 0.923 0.679 853 Voltage-gated_Na+_ion_channel,_cytoplasmic_domain . . ID=COSV51802949;OCCURENCE=1(breast),1(oesophagus),2(large_intestine) SCN3A 404 0 420 40 0.0869565217391304 TRUE TRUE ENSG00000185038.14 . BCM GRCh38.p13 chr2 233805083 233805083 + C C T Missense_Mutation SNP ENST00000389758.3 exon19 c.C2024T p.A675V exonic ENSG00000185038.14 . nonsynonymous SNV ENSG00000185038.14:ENST00000389758.3:exon19:c.C2024T:p.A675V 2q37.1 C3L-03639 . . . . . . . . rs1056895420 0.16 T T . . N N . T N 0.042 T T T 0.059 0.274 0.014 0.000 . T T T T T 0.761 9.019 0.932 N N -0.977 0.429 -0.929 0.581 0.001 0.487 0.590 0.574 0.613 . 5.450 -1.690 0.466 -1.394 -2.031 0.880 0.000 0.001 813 . . . . MROH2A 294 0 379 39 0.0933014354066986 TRUE NA ENSG00000168038.11 . BCM GRCh38.p13 chr3 41800179 41800179 + G G C Missense_Mutation SNP ENST00000301831.9 exon20 c.C1963G p.L655V exonic ENSG00000168038.11 . nonsynonymous SNV ENSG00000168038.11:ENST00000301831.9:exon20:c.C1963G:p.L655V 3p22.1 C3L-03639 . . . . . . . . . 13.20 D D D D U D M T N 0.683 T T D 0.388 0.413 0.659 0.210 T T D D D D 3.938 26.600 0.997 D D 0.474 4.839 0.402 4.374 0.972 0.615 0.588 0.659 0.655 . 5.320 4.440 6.200 1.176 0.676 1.000 0.926 0.782 690 . . . . ULK4 141 0 141 46 0.245989304812834 TRUE TRUE ENSG00000163814.8 . BCM GRCh38.p13 chr3 45089118 45089118 + C C A Missense_Mutation SNP ENST00000296129.6 exon8 c.G2017T p.A673S exonic ENSG00000163814.8 . nonsynonymous SNV ENSG00000163814.8:ENST00000296129.6:exon8:c.G2017T:p.A673S 3p21.31 C3L-03639 . . . . . . . . . 1.20 T T B B N N L T N 0.341 T T T 0.057 0.446 0.316 0.414 T T T T D T 1.442 15.360 0.928 N N -0.520 1.138 -0.530 1.154 1.000 0.563 0.590 0.609 0.586 . 5.700 4.820 2.439 1.026 0.599 0.011 0.002 0.010 567 . . . . CDCP1 263 0 352 38 0.0974358974358974 TRUE TRUE ENSG00000114270.17 . BCM GRCh38.p13 chr3 48579271 48579271 + G G A Missense_Mutation SNP ENST00000328333.12 exon61 c.C5314T p.R1772W exonic ENSG00000114270.17 . nonsynonymous SNV ENSG00000114270.17:ENST00000328333.12:exon61:c.C5314T:p.R1772W 3p21.31 C3L-03639 . . . . . . . . rs1032335328 18.20 D D D D N D M D D 0.849 D D D 0.749 . 0.947 0.259 T D D D D D 4.271 29.300 0.998 D D 0.769 8.205 0.694 7.645 0.999 0.646 0.627 0.645 0.613 . 5.160 5.160 2.445 1.176 0.676 0.984 0.964 0.990 11 . . . . COL7A1 634 0 757 198 0.207329842931937 TRUE NA ENSG00000001617.12 . BCM GRCh38.p13 chr3 50175146 50175146 + - NA A Frame_Shift_Ins NA ENST00000002829.8 exon6 c.508dupA p.T170Nfs*23 exonic ENSG00000001617.12 . frameshift insertion ENSG00000001617.12:ENST00000002829.8:exon6:c.508dupA:p.T170Nfs*23 3p21.31 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEMA3F NA NA NA NA NA NA NA ENSG00000163637.13 . BCM GRCh38.p13 chr3 64147338 64147338 + C C A Missense_Mutation SNP ENST00000638394.2 exon7 c.G1152T p.Q384H exonic ENSG00000163637.13 . nonsynonymous SNV ENSG00000163637.13:ENST00000638394.2:exon7:c.G1152T:p.Q384H 3p14.1 C3L-03639 . . . . . . . . . 11.16 . . D P D D M . . . T T D 0.344 0.119 0.782 1.335 T T D D D D 3.535 24.800 0.991 D D 0.239 3.480 0.195 3.161 1.000 0.563 0.588 0.609 0.492 . 5.940 5.070 3.048 1.026 -0.202 1.000 0.997 0.070 784 . . . . PRICKLE2 253 0 344 101 0.226966292134831 TRUE TRUE ENSG00000118017.4 . BCM GRCh38.p13 chr3 138124394 138124394 + C C T Missense_Mutation SNP ENST00000236709.4 exon3 c.G893A p.R298Q exonic ENSG00000118017.4 . nonsynonymous SNV ENSG00000118017.4:ENST00000236709.4:exon3:c.G893A:p.R298Q 3q22.3 C3L-03639 2.471e-05 0 0 0 0 1.498e-05 0 0.0001 rs771025283 5.20 T D D B N N M T N 0.087 T T D 0.372 0.545 0.319 0.156 T T T T D T 0.672 8.195 0.997 N N -0.565 1.052 -0.788 0.775 1.000 0.549 0.574 0.578 0.616 . 5.530 -5.190 -1.078 -0.217 0.599 0.000 0.000 0.053 556 Alpha_1,4-glycosyltransferase_domain . . ID=COSV52629476;OCCURENCE=1(lung) A4GNT 443 0 486 102 0.173469387755102 TRUE TRUE ENSG00000075651.16 . BCM GRCh38.p13 chr3 171699756 171699756 + T T C Missense_Mutation SNP ENST00000351298.9 exon12 c.A1216G p.K406E exonic ENSG00000075651.16 . nonsynonymous SNV ENSG00000075651.16:ENST00000351298.9:exon12:c.A1216G:p.K406E 3q26.31 C3L-03639 . . . . . . . . . 8.20 T T B B D D M T D 0.818 T T T 0.224 0.480 0.442 0.180 T T T T D D 3.403 24.400 0.998 D D 0.399 4.340 0.470 4.896 1.000 0.732 0.547 0.618 0.728 . 4.880 4.880 7.808 1.138 0.665 1.000 1.000 1.000 962 . . . . PLD1 142 0 138 28 0.168674698795181 TRUE TRUE ENSG00000182903.16 . BCM GRCh38.p13 chr4 441898 441898 + T T A Nonsense_Mutation SNP ENST00000338977.5 exon2 c.A2533T p.R845X exonic ENSG00000182903.16 . stopgain ENSG00000182903.16:ENST00000338977.5:exon2:c.A2533T:p.R845X 4p16.3 C3L-03639 . . . . . . . . . 3.5 . . . . . D . . . 0.029 . . . . . . . . . D D . . 5.967 35 0.991 N N -0.199 1.879 -0.602 1.043 0.025 0.732 0.744 0.702 0.592 . 0.499 0.499 -0.826 0.496 0.476 0.000 0.102 0.076 912 Zinc_finger_C2H2-type . . . ZNF721 394 0 467 121 0.20578231292517 NA TRUE ENSG00000157404.16 . BCM GRCh38.p13 chr4 54698428 54698428 + G G T Missense_Mutation SNP ENST00000288135.6 exon3 c.G482T p.R161M exonic ENSG00000157404.16 . nonsynonymous SNV ENSG00000157404.16:ENST00000288135.6:exon3:c.G482T:p.R161M 4q12 C3L-03639 . . . . . . . . . 1.20 D T B B N N L T N 0.238 T T T 0.150 0.463 0.642 0.501 T T T T T T 1.139 13.130 0.862 N N -1.023 0.380 -1.025 0.458 0.990 0.732 0.574 0.744 0.632 . 5.750 -0.886 -0.755 0.113 0.665 0.000 0.259 0.628 894 . . . ID=COSV55423622;OCCURENCE=1(large_intestine) KIT 441 0 411 118 0.223062381852552 TRUE TRUE ENSG00000163739.5 . BCM GRCh38.p13 chr4 73869749 73869749 + A A G Missense_Mutation SNP ENST00000395761.4 exon2 c.A181G p.N61D exonic ENSG00000163739.5 . nonsynonymous SNV ENSG00000163739.5:ENST00000395761.4:exon2:c.A181G:p.N61D 4q13.3 C3L-03639 . . . . . . . . . 0.20 T T B B N N L T N 0.240 T T T 0.009 0.322 0.386 0.156 T T T T T T 1.211 13.720 0.901 N N -1.159 0.257 -1.212 0.273 1.000 0.628 0.563 0.504 0.658 . 4.850 -0.812 0.120 -0.533 -0.074 0.089 0.000 0.010 429 CXC_chemokine,_conserved_site;Chemokine_interleukin-8-like_domain;CXC_Chemokine_domain . . . CXCL1 336 0 469 118 0.201022146507666 NA TRUE ENSG00000186212.4 . BCM GRCh38.p13 chr4 76896021 76896021 + A A C Missense_Mutation SNP ENST00000334306.4 exon1 c.T1829G p.I610S exonic ENSG00000186212.4 . nonsynonymous SNV ENSG00000186212.4:ENST00000334306.4:exon1:c.T1829G:p.I610S 4q21.1 C3L-03639 . . . . . . . . . 1.20 T D B B U N L T N 0.138 T T T 0.026 0.399 0.163 . T T T T T T 1.172 13.410 0.641 N N -0.985 0.420 -0.954 0.548 1.000 0.598 0.541 0.615 0.639 . 5.230 1.040 0.150 0.268 0.756 0.000 0.376 0.442 545 . . . . SOWAHB 136 0 177 16 0.0829015544041451 TRUE TRUE ENSG00000164066.13 . BCM GRCh38.p13 chr4 127706694 127706694 + - NA A Frame_Shift_Ins NA ENST00000335251.11 exon12 c.1997dupA p.T668Nfs*3 exonic ENSG00000164066.13 . frameshift insertion ENSG00000164066.13:ENST00000335251.11:exon12:c.1997dupA:p.T668Nfs*3 4q28.1 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INTU NA NA NA NA NA NA NA ENSG00000164306.11 . BCM GRCh38.p13 chr4 184661857 184661857 + C C T Missense_Mutation SNP ENST00000314970.11 exon5 c.C362T p.A121V exonic ENSG00000164306.11 . nonsynonymous SNV ENSG00000164306.11:ENST00000314970.11:exon5:c.C362T:p.A121V 4q35.1 C3L-03639 . . . . . . . . . 7.20 T T D D N D M T N 0.247 T T T 0.134 0.407 0.494 0.215 T T T T D D 2.084 19.890 0.999 D N 0.282 3.687 0.287 3.644 1.000 0.651 0.709 0.659 0.684 . 5.800 4.080 2.887 0.948 0.530 0.993 0.997 0.996 894 . . . . PRIMPOL 183 0 177 26 0.12807881773399 TRUE TRUE ENSG00000083857.14 . BCM GRCh38.p13 chr4 186707942 186707942 + G G C Missense_Mutation SNP ENST00000441802.7 exon2 c.C1886G p.S629W exonic ENSG00000083857.14 . nonsynonymous SNV ENSG00000083857.14:ENST00000441802.7:exon2:c.C1886G:p.S629W 4q35.2 C3L-03639 . . . . . . . . . 13.20 D D D P D D M T D 0.612 T T D 0.331 0.492 0.492 0.483 T D T T D D 3.333 24.200 0.991 D D 0.667 6.682 0.603 6.261 1.000 0.672 0.574 0.702 0.668 . 5.400 5.400 10.003 1.176 0.676 1.000 0.002 0.001 951 Cadherin-like . . . FAT1 325 0 318 65 0.169712793733681 TRUE TRUE ENSG00000040731.10 . BCM GRCh38.p13 chr5 24487886 24487886 + T T G Missense_Mutation SNP ENST00000264463.8 exon12 c.A2144C p.N715T exonic ENSG00000040731.10 . nonsynonymous SNV ENSG00000040731.10:ENST00000264463.8:exon12:c.A2144C:p.N715T 5p14.2 C3L-03639 . . . . . . . . . 5.20 T T P P D D M T N 0.215 T T T 0.288 0.475 0.821 0.483 T T T T D T 2.243 21.200 0.989 D N 0.003 2.520 -0.010 2.324 1.000 0.487 0.574 0.574 0.564 . 5.680 4.500 1.616 1.134 0.661 0.999 0.544 0.999 858 Cadherin,_cytoplasmic_domain . . . CDH10 358 1 397 42 0.0956719817767654 TRUE TRUE ENSG00000152582.14 . BCM GRCh38.p13 chr5 35641463 35641463 + G G A Missense_Mutation SNP ENST00000356031.8 exon3 c.G194A p.R65H exonic ENSG00000152582.14 . nonsynonymous SNV ENSG00000152582.14:ENST00000356031.8:exon3:c.G194A:p.R65H 5p13.2 C3L-03639 4.128e-05 0 8.714e-05 0 0 3.002e-05 0 0.0001 rs772509398 14.20 D D D D D D M T D 0.691 T T D 0.355 0.706 0.356 0.249 T T T D D D 3.903 26.400 0.999 D D 0.835 9.509 0.825 10.890 0.999 0.554 0.574 0.618 0.564 . 5.930 5.930 5.520 1.155 0.676 1.000 1.000 0.998 609 CH-like_domain_in_sperm_protein;Calponin_homology_domain . . ID=COSV56796785;OCCURENCE=2(liver),1(large_intestine) SPEF2 205 0 283 1054 0.788332086761406 TRUE TRUE ENSG00000053108.17 . BCM GRCh38.p13 chr5 133220828 133220828 + C C T Missense_Mutation SNP ENST00000265342.12 exon12 c.G1378A p.D460N exonic ENSG00000053108.17 . nonsynonymous SNV ENSG00000053108.17:ENST00000265342.12:exon12:c.G1378A:p.D460N 5q31.1 C3L-03639 0.0002 0 0.0015 0 0 2.997e-05 0 6.056e-05 rs201737601 4.20 T D B B N D L T N 0.400 T T T 0.083 . 0.341 0.226 T T T T T D 0.678 8.250 0.911 D N -0.563 1.055 -0.585 1.070 0.999 0.615 0.588 0.616 0.447 . 5.480 0.679 1.617 0.129 -0.242 0.822 0.003 0.342 887 . . . . FSTL4 352 0 418 95 0.185185185185185 TRUE NA ENSG00000070614.15 . BCM GRCh38.p13 chr5 150521486 150521486 + C C T Missense_Mutation SNP ENST00000261797.7 exon2 c.C232T p.P78S exonic ENSG00000070614.15 . nonsynonymous SNV ENSG00000070614.15:ENST00000261797.7:exon2:c.C232T:p.P78S 5q33.1 C3L-03639 . . . . . . . . . 3.20 T T B B D D N T N 0.075 T T T 0.063 0.119 0.155 0.669 T T T T T T 1.486 15.640 0.281 D N -0.552 1.077 -0.383 1.404 1.000 0.707 0.654 0.702 0.714 . 5.110 3.990 1.798 1.026 0.599 0.271 0.911 0.684 872 Heparan_sulphate-N-deacetylase . . . NDST1 562 0 802 55 0.0641773628938156 TRUE TRUE ENSG00000145990.11 . BCM GRCh38.p13 chr6 13365539 13365539 + G G A Missense_Mutation SNP ENST00000379287.4 exon2 c.C377T p.P126L exonic ENSG00000145990.11 . nonsynonymous SNV ENSG00000145990.11:ENST00000379287.4:exon2:c.C377T:p.P126L 6p24.1 C3L-03639 8.377e-06 0 0 0 0 1.532e-05 0 0 rs757177243 19.20 D D D D D D H D D 0.967 D D D 0.880 0.790 0.985 2.194 D T D D D D 4.265 29.300 0.999 D D 0.936 12.018 0.888 13.255 1.000 0.672 0.702 0.616 0.492 . 5.150 5.150 9.968 1.176 0.671 1.000 0.997 0.997 866 . . . ID=COSV64954512;OCCURENCE=1(skin) GFOD1 444 0 644 108 0.143617021276596 TRUE NA ENSG00000112655.16 . BCM GRCh38.p13 chr6 43139520 43139520 + G G A Missense_Mutation SNP ENST00000230419.9 exon10 c.G1613A p.R538Q exonic ENSG00000112655.16 . nonsynonymous SNV ENSG00000112655.16:ENST00000230419.9:exon10:c.G1613A:p.R538Q 6p21.1 C3L-03639 . . . . . . . . . 10.20 D D D P D D M T N 0.274 T T D 0.191 0.723 0.511 1.764 T T T T D D 3.878 26.200 0.999 D N 0.567 5.601 0.552 5.670 0.999 0.706 0.634 0.644 0.613 . 5.590 4.720 5.201 1.176 0.618 1.000 0.845 0.707 249 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . PTK7 136 0 181 111 0.38013698630137 TRUE TRUE ENSG00000180113.16 . BCM GRCh38.p13 chr6 46688271 46688271 + G G A Missense_Mutation SNP ENST00000316081.11 exon1 c.G143A p.R48Q exonic ENSG00000180113.16 . nonsynonymous SNV ENSG00000180113.16:ENST00000316081.11:exon1:c.G143A:p.R48Q 6p12.3 C3L-03639 . . . . . . . . . 1.20 T T B B N N L T N 0.105 T T D 0.030 0.356 0.334 0.034 T T T T T T 0.891 10.340 0.990 N N -0.603 0.981 -0.547 1.128 0.000 0.487 0.574 0.578 0.542 . 5.200 0.668 0.106 0.201 -0.760 0.000 0.995 0.821 502 Tudor_domain . . . TDRD6 193 0 377 56 0.12933025404157 TRUE NA ENSG00000164418.20 . BCM GRCh38.p13 chr6 102068476 102068476 + G G A Missense_Mutation SNP ENST00000421544.6 exon19 c.G2692A p.D898N exonic ENSG00000164418.20 . nonsynonymous SNV ENSG00000164418.20:ENST00000421544.6:exon19:c.G2692A:p.D898N 6q16.3 C3L-03639 8.37e-06 9.728e-05 0 0 0 0 0 0 rs751533944 7.20 D T P B D D L T N 0.699 T T T 0.211 0.229 0.602 0.504 D T T T T D 3.433 24.500 0.999 D D 0.455 4.705 0.570 5.869 1.000 0.554 0.574 0.618 0.564 . 5.790 5.790 9.561 1.176 0.676 1.000 1.000 1.000 905 . . . ID=COSV59729088;OCCURENCE=1(large_intestine) GRIK2 151 0 124 85 0.406698564593301 TRUE TRUE ENSG00000164877.19 . BCM GRCh38.p13 chr7 1444926 1444926 + G G A Missense_Mutation SNP ENST00000297508.8 exon6 c.C1144T p.P382S exonic ENSG00000164877.19 . nonsynonymous SNV ENSG00000164877.19:ENST00000297508.8:exon6:c.C1144T:p.P382S 7p22.3 C3L-03639 0 0 0 0 0 0 0 0 rs774800327 2.20 T T B B N N L T D 0.090 T T D 0.019 0.371 0.324 0.015 T T T T T T -0.059 1.009 0.656 N N -1.269 0.182 -1.334 0.188 0.249 0.646 0.588 0.576 0.700 . 3.880 -1.690 -0.005 -0.262 -0.115 0.009 0.000 0.001 938 . . . . MICALL2 77 0 164 56 0.254545454545455 TRUE NA ENSG00000105866.15 . BCM GRCh38.p13 chr7 21428767 21428767 + A A G Missense_Mutation SNP ENST00000222584.8 exon2 c.A98G p.K33R exonic ENSG00000105866.15 . nonsynonymous SNV ENSG00000105866.15:ENST00000222584.8:exon2:c.A98G:p.K33R 7p15.3 C3L-03639 . . . . . . . . . 6.20 D T P B D D N T N 0.306 T T T 0.146 0.181 0.252 0.247 T T T T D T 2.826 23.100 0.948 D D 0.129 3.002 0.225 3.308 1.000 0.243 0.299 0.391 0.373 . 4.650 4.650 5.843 1.312 0.756 1.000 1.000 1.000 866 . . . . SP4 207 0 448 43 0.0875763747454175 TRUE TRUE ENSG00000105778.19 . BCM GRCh38.p13 chr7 32552236 32552236 + A A G Missense_Mutation SNP ENST00000318709.9 exon6 c.A470G p.Y157C exonic ENSG00000105778.19 . nonsynonymous SNV ENSG00000105778.19:ENST00000318709.9:exon6:c.A470G:p.Y157C 7p14.3 C3L-03639 . . . . . . . . . 16.20 D D D D D D M T D 0.931 T T D 0.825 0.750 0.817 0.800 D T D D D D 4.366 31 0.998 D D 0.895 10.918 0.859 12.091 1.000 0.707 0.725 0.651 0.714 . 5.650 5.650 8.628 1.311 0.756 1.000 1.000 0.998 705 Tripartite_DENN_domain;AVL9/DENND6_domain . . . AVL9 85 0 114 14 0.109375 TRUE TRUE ENSG00000091128.13 . BCM GRCh38.p13 chr7 108076970 108076970 + C C T Missense_Mutation SNP ENST00000388781.8 exon17 c.G2098A p.A700T exonic ENSG00000091128.13 . nonsynonymous SNV ENSG00000091128.13:ENST00000388781.8:exon17:c.G2098A:p.A700T 7q31.1 C3L-03639 5.774e-05 0 0 0 0 0 0 0.0004 rs754196717 0.20 T T B B N N L T N 0.075 T T T 0.010 0.402 0.014 0.062 T T T T T T -0.021 1.209 0.738 N N -1.527 0.073 -1.530 0.097 0.988 0.487 0.574 0.547 0.634 . 5.300 0.207 -0.410 -0.824 -1.051 0.001 0.030 0.029 729 Laminin_IV_type_B . . ID=COSV52726584;OCCURENCE=1(breast) LAMB4 174 0 270 48 0.150943396226415 TRUE TRUE ENSG00000183117.19 . BCM GRCh38.p13 chr8 3307810 3307810 + C C A Missense_Mutation SNP ENST00000635120.2 exon25 c.G3835T p.G1279C exonic ENSG00000183117.19 . nonsynonymous SNV ENSG00000183117.19:ENST00000635120.2:exon25:c.G3835T:p.G1279C 8p23.2 C3L-03639 . . . . . . . . . 15.19 D D D D N D . T D 0.945 D D D 0.560 0.838 0.602 . T T D D D D 3.900 26.300 0.997 D D 0.463 4.763 0.357 4.068 0.445 0.554 0.574 0.618 0.564 . 4.610 4.610 5.979 1.000 0.599 1.000 0.137 0.849 922 CUB_domain . . . CSMD1 148 0 185 10 0.0512820512820513 TRUE TRUE ENSG00000077782.21 . BCM GRCh38.p13 chr8 38424658 38424658 + C C T Missense_Mutation SNP ENST00000447712.7 exon7 c.G787A p.A263T exonic ENSG00000077782.21 . nonsynonymous SNV ENSG00000077782.21:ENST00000447712.7:exon7:c.G787A:p.A263T 8p11.23 C3L-03639 2.489e-05 0 0 0 0 0 0 0.0002 rs747978107 15.20 D D D D D D N T D 0.718 T T D 0.436 0.567 0.817 2.306 D D T D D D 3.538 24.800 0.999 D D 0.648 6.452 0.735 8.459 1.000 0.722 0.588 0.702 0.735 . 6.080 6.080 7.905 1.025 0.599 1.000 0.902 0.754 845 Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . FGFR1 95 0 111 41 0.269736842105263 TRUE NA ENSG00000176406.23 . BCM GRCh38.p13 chr8 103885963 103885963 + G G A Missense_Mutation SNP ENST00000666250.1 exon4 c.G1364A p.R455Q exonic ENSG00000176406.23 . nonsynonymous SNV ENSG00000176406.23:ENST00000666250.1:exon4:c.G1364A:p.R455Q 8q22.3 C3L-03639 . . . . . . . . . 8.18 D T D D . D . T N 0.443 T T T 0.181 . 0.642 . T T T T D D 3.930 26.500 0.999 D D 0.387 4.266 0.377 4.202 0.999 0.693 0.574 0.659 0.564 . 5.650 4.780 5.511 1.176 0.676 1.000 0.997 0.995 631 . . . ID=COSV51653092;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(stomach) RIMS2 360 0 533 68 0.113144758735441 TRUE TRUE ENSG00000177283.7 . BCM GRCh38.p13 chr10 35640073 35640073 + A A T Missense_Mutation SNP ENST00000374694.2 exon1 c.T1357A p.S453T exonic ENSG00000177283.7 . nonsynonymous SNV ENSG00000177283.7:ENST00000374694.2:exon1:c.T1357A:p.S453T 10p11.21 C3L-03639 . . . . . . . . . 7.20 T T B B U D N T N 0.678 T T D 0.449 0.558 0.376 . D T T T D D 2.072 19.800 0.633 D D -0.531 1.116 -0.378 1.412 1.000 0.789 0.588 0.768 0.604 . 3.810 3.810 6.930 1.025 0.514 1.000 0.997 0.528 733 GPCR,_family_2-like;Frizzled/Smoothened,_transmembrane_domain . . . FZD8 314 0 684 38 0.0526315789473684 TRUE TRUE ENSG00000107651.13 . BCM GRCh38.p13 chr10 119933007 119933007 + - NA A Frame_Shift_Ins NA ENST00000369075.8 exon17 c.2762dupA p.V923Gfs*3 exonic ENSG00000107651.13 . frameshift insertion ENSG00000107651.13:ENST00000369075.8:exon17:c.2762dupA:p.V923Gfs*3 10q26.12 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEC23IP NA NA NA NA NA NA NA ENSG00000181752.3 . BCM GRCh38.p13 chr11 56159519 56159519 + A A C Missense_Mutation SNP ENST00000313447.1 exon1 c.T799G p.F267V exonic ENSG00000181752.3 . nonsynonymous SNV ENSG00000181752.3:ENST00000313447.1:exon1:c.T799G:p.F267V 11q12.1 C3L-03639 . . . . . . . . . 3.20 D D B B D N N T N 0.050 T T T 0.153 0.436 0.294 0.005 T T T T T T 1.344 14.700 0.975 N N -0.797 0.659 -0.729 0.858 0.000 0.487 0.574 0.574 0.564 . 3.980 3.980 0.261 0.983 0.647 0.000 0.001 0.002 161 GPCR,_rhodopsin-like,_7TM . . ID=COSV100537127;OCCURENCE=1(stomach) OR8K5 226 0 251 54 0.177049180327869 TRUE TRUE ENSG00000159063.13 . BCM GRCh38.p13 chr11 78124139 78124139 + A A T Missense_Mutation SNP ENST00000299626.10 exon3 c.T250A p.Y84N exonic ENSG00000159063.13 . nonsynonymous SNV ENSG00000159063.13:ENST00000299626.10:exon3:c.T250A:p.Y84N 11q14.1 C3L-03639 . . . . . . . . . 13.20 D D P P N D M D D 0.728 T D D 0.515 0.457 0.943 0.473 T D D T D D 3.570 24.900 0.974 D N 0.295 3.754 0.315 3.807 0.366 0.732 0.710 0.725 0.728 . 6.010 3.570 3.020 1.312 0.756 1.000 1.000 0.995 638 . . . . ALG8 196 0 878 47 0.0508108108108108 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-03639 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 298 0 213 174 0.449612403100775 TRUE TRUE ENSG00000198393.8 . BCM GRCh38.p13 chr12 133011428 133011428 + A A G Missense_Mutation SNP ENST00000328654.10 exon4 c.A1549G p.K517E exonic ENSG00000198393.8 . nonsynonymous SNV ENSG00000198393.8:ENST00000328654.10:exon4:c.A1549G:p.K517E 12q24.33 C3L-03639 . . . . . . . . . 5.20 D D B B N N L T D 0.215 T T T 0.092 0.493 0.067 . T T T T D T 2.929 23.300 0.999 D N -0.065 2.287 -0.031 2.257 0.011 0.707 0.725 0.659 0.636 . 4.030 2.870 4.089 1.031 0.658 1.000 0.998 0.995 934 Zinc_finger_C2H2-type . . . ZNF26 90 0 107 21 0.1640625 TRUE TRUE ENSG00000196199.14 . BCM GRCh38.p13 chr13 19659276 19659276 + A A G Missense_Mutation SNP ENST00000361479.10 exon7 c.A1778G p.N593S exonic ENSG00000196199.14 . nonsynonymous SNV ENSG00000196199.14:ENST00000361479.10:exon7:c.A1778G:p.N593S 13q12.11 C3L-03639 . . . . . . . . . 11.20 D D D D D D L T N 0.469 T T D 0.362 0.341 0.703 0.780 T T T T D D 3.844 26.000 0.999 D D 0.647 6.438 0.655 6.992 1.000 0.707 0.725 0.786 0.714 . 5.180 5.180 8.480 1.312 0.756 1.000 0.997 0.974 946 Ankyrin_repeat-containing_domain . . . MPHOSPH8 77 0 135 19 0.123376623376623 TRUE TRUE ENSG00000136111.14 . BCM GRCh38.p13 chr13 75362211 75362211 + G G A Missense_Mutation SNP ENST00000377636.8 exon2 c.C895T p.R299W exonic ENSG00000136111.14 . nonsynonymous SNV ENSG00000136111.14:ENST00000377636.8:exon2:c.C895T:p.R299W 13q22.2 C3L-03639 . . . . . . . . . 10.20 D D D D D D L T N 0.614 T T T 0.214 0.417 0.649 0.913 T T T T D D 3.132 23.700 0.994 D D -0.218 1.826 -0.403 1.367 1.000 0.706 0.634 0.710 0.714 . 5.180 -2.140 1.076 0.161 0.676 1.000 0.722 0.147 938 PTB/PI_domain . . . TBC1D4 596 0 845 165 0.163366336633663 TRUE TRUE ENSG00000102452.17 . BCM GRCh38.p13 chr13 101067961 101067961 + C C T Missense_Mutation SNP ENST00000251127.11 exon39 c.G4403A p.R1468H exonic ENSG00000102452.17 . nonsynonymous SNV ENSG00000102452.17:ENST00000251127.11:exon39:c.G4403A:p.R1468H 13q32.3 C3L-03639 . . . . . . . . . 18.20 D D D P D D N D D 0.766 D D D 0.798 0.511 0.724 2.231 D D D D D D 3.520 24.800 0.999 D D 0.629 6.234 0.701 7.764 1.000 0.638 0.574 0.618 0.668 . 5.900 5.900 7.568 1.026 0.599 1.000 0.998 0.987 840 . . . ID=COSV51916921;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(endometrium) NALCN 201 0 275 44 0.137931034482759 TRUE TRUE ENSG00000129484.13 . BCM GRCh38.p13 chr14 20346866 20346866 + C C T Missense_Mutation SNP ENST00000250416.9 exon4 c.C316T p.H106Y exonic ENSG00000129484.13 . nonsynonymous SNV ENSG00000129484.13:ENST00000250416.9:exon4:c.C316T:p.H106Y 14q11.2 C3L-03639 8.288e-06 0 0 0.0001 0 0 0 0 rs761099507 10.20 D T D D D D L T D 0.825 T T T 0.247 0.586 0.537 0.209 T T T T D D 3.007 23.400 0.997 D D 0.697 7.076 0.730 8.344 1.000 0.707 0.725 0.725 0.714 . 5.860 5.860 6.614 1.008 0.581 1.000 0.997 0.981 911 . . . . PARP2 183 0 165 37 0.183168316831683 TRUE NA ENSG00000187790.11 . BCM GRCh38.p13 chr14 45175500 45175500 + G G T Missense_Mutation SNP ENST00000267430.10 exon14 c.G2746T p.V916F exonic ENSG00000187790.11 . nonsynonymous SNV ENSG00000187790.11:ENST00000267430.10:exon14:c.G2746T:p.V916F 14q21.2 C3L-03639 . . . . . . . . . 1.20 T T B B N N M T N 0.216 T T T 0.045 0.302 0.210 0.127 T T T T T T -0.174 0.582 0.977 N N -1.030 0.373 -1.056 0.422 0.423 0.615 0.588 0.602 0.655 . 4.350 2.480 0.300 -0.146 -0.919 0.000 0.042 0.055 819 . . . . FANCM 82 0 113 8 0.0661157024793388 TRUE TRUE ENSG00000100731.16 . BCM GRCh38.p13 chr14 70978357 70978357 + G G A Missense_Mutation SNP ENST00000304743.7 exon6 c.G2020A p.A674T exonic ENSG00000100731.16 . nonsynonymous SNV ENSG00000100731.16:ENST00000304743.7:exon6:c.G2020A:p.A674T 14q24.2 C3L-03639 . . . . . . . . . 2.20 T T B B N D N T N 0.033 T T T 0.083 0.199 0.043 0.100 T T T T T T 1.664 16.790 0.977 D N -0.430 1.318 -0.321 1.521 0.996 0.707 0.654 0.725 0.714 . 5.870 0.155 0.850 0.222 0.674 0.999 0.565 0.876 773 . . . . PCNX1 121 0 167 20 0.106951871657754 TRUE TRUE ENSG00000140937.14 . BCM GRCh38.p13 chr16 65004788 65004788 + G G A Missense_Mutation SNP ENST00000268603.9 exon3 c.C82T p.R28W exonic ENSG00000140937.14 . nonsynonymous SNV ENSG00000140937.14:ENST00000268603.9:exon3:c.C82T:p.R28W 16q21 C3L-03639 1.655e-05 0 0 0.0003 0 0 0 0 rs779648442 7.20 D D D P N D L T D 0.429 T T D 0.145 0.439 0.530 0.995 T T T T T D 2.744 22.900 0.959 N N -0.120 2.112 -0.157 1.894 0.897 0.638 0.574 0.653 0.655 . 5.740 2.590 0.370 1.176 0.618 0.000 0.101 0.606 413 . . . . CDH11 260 0 293 80 0.214477211796247 TRUE NA ENSG00000184811.4 . BCM GRCh38.p13 chr17 1280056 1280056 + G G A Missense_Mutation SNP ENST00000333813.4 exon1 c.G55A p.A19T exonic ENSG00000184811.4 . nonsynonymous SNV ENSG00000184811.4:ENST00000333813.4:exon1:c.G55A:p.A19T 17p13.3 C3L-03639 . . . . . . . . . 1.19 T T B B N N . T N 0.021 T T D 0.067 0.163 0.072 0.049 T T T T T T 0.296 4.244 0.878 N N -1.533 0.072 -1.473 0.118 0.000 0.554 0.588 0.578 0.542 . 5.220 1.680 1.219 -0.583 -2.444 0.018 0.016 0.006 710 . . . ID=COSV61562600;OCCURENCE=1(large_intestine),1(stomach) TRARG1 85 0 145 26 0.152046783625731 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674897 7674899 + AAG AAG - In_Frame_Del DEL ENST00000269305.8 exon6 c.632_634del p.T211_F212delinsI exonic ENSG00000141510.17 . nonframeshift deletion ENSG00000141510.17:ENST00000269305.8:exon6:c.632_634del:p.T211_F212delinsI 17p13.1 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 482 0 374 265 0.41471048513302 TRUE TRUE ENSG00000277161.2 . BCM GRCh38.p13 chr17 36537813 36537813 + T T G Missense_Mutation SNP ENST00000614443.2 exon2 c.T712G p.F238V exonic ENSG00000277161.2 . nonsynonymous SNV ENSG00000277161.2:ENST00000614443.2:exon2:c.T712G:p.F238V 17q12 C3L-03639 . . . . . . . . . 15.17 . D D D D D H . . 0.947 D D D 0.955 0.921 0.656 . T T D D D D 3.985 26.900 0.991 D D 0.903 11.139 0.842 11.494 1.000 0.707 0.702 0.609 0.714 . 5.790 5.790 7.432 1.138 0.665 1.000 1.000 1.000 622 . . . . PIGW 151 0 148 65 0.305164319248826 TRUE TRUE ENSG00000173801.17 . BCM GRCh38.p13 chr17 41757684 41757684 + C C T Missense_Mutation SNP ENST00000393931.8 exon11 c.G1874A p.G625E exonic ENSG00000173801.17 . nonsynonymous SNV ENSG00000173801.17:ENST00000393931.8:exon11:c.G1874A:p.G625E 17q21.2 C3L-03639 . . . . . . . . . 17.20 D D D D D D M T D 0.882 T T D 0.653 0.727 0.872 1.590 D D D D D D 3.827 26.000 0.998 D D 0.658 6.574 0.609 6.338 1.000 0.707 0.725 0.725 0.714 . 4.980 4.980 7.694 0.947 0.599 1.000 0.955 0.719 577 . . . . JUP 130 0 201 43 0.176229508196721 TRUE TRUE ENSG00000120068.7 . BCM GRCh38.p13 chr17 48614428 48614428 + G G A Missense_Mutation SNP ENST00000239144.5 exon1 c.C277T p.R93C exonic ENSG00000120068.7 . nonsynonymous SNV ENSG00000120068.7:ENST00000239144.5:exon1:c.C277T:p.R93C 17q21.32 C3L-03639 . . . . . . . . . 13.20 D D D D U D M T D 0.780 T T D 0.343 0.467 0.816 2.433 D T D T D D 4.446 32 0.998 D N 0.355 4.075 0.195 3.160 1.000 0.598 0.596 0.000 0.604 . 2.970 0.652 2.433 1.082 0.511 1.000 1.000 0.994 643 . . . . HOXB8 242 0 253 191 0.43018018018018 TRUE TRUE ENSG00000185269.12 . BCM GRCh38.p13 chr17 81957895 81957895 + G G T Missense_Mutation SNP ENST00000409678.8 exon6 c.C606A p.F202L exonic ENSG00000185269.12 . nonsynonymous SNV ENSG00000185269.12:ENST00000409678.8:exon6:c.C606A:p.F202L 17q25.3 C3L-03639 . . . . . . . . . 17.19 D D D D D D H . D 0.987 T T D 0.800 0.851 0.157 1.487 D D D D D D 3.607 25.100 0.998 D D 0.492 4.971 0.336 3.937 1.000 0.583 0.590 0.615 0.563 . 4.510 2.450 3.085 1.083 0.618 1.000 0.967 0.371 . . . . . NOTUM 234 1 331 103 0.237327188940092 TRUE TRUE ENSG00000215421.9 . BCM GRCh38.p13 chr18 74633568 74633568 + G G A Missense_Mutation SNP ENST00000299687.9 exon1 c.G2549A p.R850Q exonic ENSG00000215421.9 . nonsynonymous SNV ENSG00000215421.9:ENST00000299687.9:exon1:c.G2549A:p.R850Q 18q22.3 C3L-03639 . . . . . . . . . 8.20 D T D D N N L T N 0.472 T T D 0.279 0.471 0.397 0.500 T T T T D D 4.144 28.100 1.000 D D 0.613 6.063 0.621 6.491 1.000 0.615 0.654 0.659 0.636 . 5.630 5.630 7.106 1.176 0.676 1.000 0.994 0.996 730 Zinc_finger_C2H2-type . . ID=COSV55241328;OCCURENCE=1(large_intestine) ZNF407 196 0 192 43 0.182978723404255 TRUE TRUE ENSG00000005206.17 . BCM GRCh38.p13 chr19 2334692 2334692 + G G A Missense_Mutation SNP ENST00000613503.5 exon2 c.G157A p.A53T exonic ENSG00000005206.17;ENSG00000273734.1 . nonsynonymous SNV ENSG00000005206.17:ENST00000613503.5:exon2:c.G157A:p.A53T 19p13.3 C3L-03639 . . . . . . . . . 8.14 . T D D D . N . . 0.860 T T . 0.255 0.440 0.040 . T T D D D D 3.226 23.900 0.996 D . 0.454 4.696 0.429 4.570 1.000 0.295 0.304 0.341 0.293 0.878 4.280 4.280 9.503 1.083 0.676 1.000 0.907 0.396 964 . . . . SPPL2B 187 0 292 88 0.231578947368421 TRUE TRUE ENSG00000172009.15 . BCM GRCh38.p13 chr19 2790583 2790583 + C C G Missense_Mutation SNP ENST00000307741.11 exon2 c.C179G p.S60C exonic ENSG00000172009.15 . nonsynonymous SNV ENSG00000172009.15:ENST00000307741.11:exon2:c.C179G:p.S60C 19p13.3 C3L-03639 . . . . . . . . . 8.20 D D B B D D M T N 0.492 T T T 0.194 0.595 0.388 0.744 T T T T D T 2.411 22.100 0.961 D D -0.185 1.920 -0.074 2.122 1.000 0.707 0.672 0.725 0.714 . 5.030 5.030 3.425 1.026 0.599 0.997 0.032 0.007 994 . . . . THOP1 52 0 88 6 0.0638297872340425 TRUE NA ENSG00000276043.5 . BCM GRCh38.p13 chr19 4950741 4950741 + G G A Missense_Mutation SNP ENST00000650932.1 exon12 c.G1648A p.A550T exonic ENSG00000276043.5 . nonsynonymous SNV ENSG00000276043.5:ENST00000650932.1:exon12:c.G1648A:p.A550T 19p13.3 C3L-03639 6.82e-05 0.0001 0 0 0 4.601e-05 0.0012 0.0002 rs371287720 0.14 . T B B N . N . . 0.133 T T . 0.026 . 0.081 . T T T T T T 0.798 9.373 0.984 N . -0.952 0.457 -0.957 0.544 0.001 0.322 0.304 0.331 0.323 0.111 5.140 1.170 1.479 1.176 0.676 0.029 0.053 0.012 952 SRA-YDG . . . UHRF1 164 0 209 42 0.167330677290837 TRUE NA ENSG00000185236.12 . BCM GRCh38.p13 chr19 8390435 8390435 + G G T Nonsense_Mutation SNP ENST00000328024.11 exon1 c.G19T p.E7X exonic ENSG00000185236.12 . stopgain ENSG00000185236.12:ENST00000328024.11:exon1:c.G19T:p.E7X 19p13.2 C3L-03639 . . . . . . . . . 5.6 . . . . D A . . . 0.853 . . . . . . . . . D D . . 8.566 44 0.997 D N 0.996 13.789 0.847 11.671 1.000 0.442 0.522 0.522 0.562 . 5.720 4.670 6.712 1.176 0.618 1.000 0.999 0.983 808 . . . ID=COSV100033165;OCCURENCE=1(kidney) RAB11B 88 0 153 48 0.238805970149254 TRUE TRUE ENSG00000128011.4 . BCM GRCh38.p13 chr19 39307719 39307719 + C C A Missense_Mutation SNP ENST00000248668.4 exon2 c.G2230T p.G744W exonic ENSG00000128011.4 . nonsynonymous SNV ENSG00000128011.4:ENST00000248668.4:exon2:c.G2230T:p.G744W 19q13.2 C3L-03639 . . . . . . . . . 5.20 T T P B N N N T N 0.411 T T D 0.090 0.380 0.134 . D T T T D T 2.910 23.200 0.994 D D 0.134 3.024 0.202 3.195 1.000 0.652 0.588 0.641 0.621 . 4.360 3.240 1.548 1.022 0.596 0.932 1.000 0.997 560 . . . . LRFN1 75 0 322 17 0.0501474926253687 TRUE NA ENSG00000105323.17 . BCM GRCh38.p13 chr19 41304163 41304163 + A A - Frame_Shift_Del DEL ENST00000392006.8 exon13 c.2164delA p.N722Tfs*193 exonic ENSG00000105323.17 . frameshift deletion ENSG00000105323.17:ENST00000392006.8:exon13:c.2164delA:p.N722Tfs*193 19q13.2 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HNRNPUL1 266 2 504 87 0.147208121827411 TRUE TRUE ENSG00000213024.12 . BCM GRCh38.p13 chr19 49908289 49908289 + C C T Missense_Mutation SNP ENST00000352066.8 exon3 c.G1519A p.E507K exonic ENSG00000213024.12 . nonsynonymous SNV ENSG00000213024.12:ENST00000352066.8:exon3:c.G1519A:p.E507K 19q13.33 C3L-03639 . . . . . . . . . 8.20 D T P B U D L T D 0.469 T T D 0.129 0.336 0.641 0.354 T T T T D D 2.880 23.200 0.999 D D 0.289 3.722 0.354 4.046 1.000 0.731 0.750 0.699 0.714 . 5.260 4.230 7.182 1.026 0.599 1.000 0.956 0.975 645 . . . ID=COSV61311921;OCCURENCE=1(lung) NUP62 224 0 334 78 0.189320388349515 TRUE TRUE ENSG00000142528.16 . BCM GRCh38.p13 chr19 50046946 50046946 + G G C Missense_Mutation SNP ENST00000270617.8 exon5 c.G2503C p.V835L exonic ENSG00000142528.16 . nonsynonymous SNV ENSG00000142528.16:ENST00000270617.8:exon5:c.G2503C:p.V835L 19q13.33 C3L-03639 . . . . . . . . . 0.20 T T B B N N N T N 0.079 T T T 0.024 0.596 0.215 0.437 T T T T T T 0.354 4.911 0.934 N N -1.058 0.345 -1.113 0.362 1.000 0.719 0.723 0.780 0.636 . 4.380 -1.200 -0.231 0.275 -0.142 0.000 0.992 0.636 740 Zinc_finger_C2H2-type . . ID=COSV54522812;OCCURENCE=2(lung) ZNF473 270 0 370 22 0.0561224489795918 TRUE TRUE ENSG00000198300.14 . BCM GRCh38.p13 chr19 56815930 56815930 + A A C Missense_Mutation SNP ENST00000326441.15 exon10 c.T2512G p.L838V exonic ENSG00000198300.14 . nonsynonymous SNV ENSG00000198300.14:ENST00000326441.15:exon10:c.T2512G:p.L838V 19q13.43 C3L-03639 . . . . . . . . . 2.19 T D P B N . M T N 0.146 T T T 0.025 0.400 0.346 0.101 T T T T T T -0.390 0.202 0.569 N N -0.893 0.530 -1.129 0.347 0.048 0.487 0.574 0.574 0.564 . 3.990 -4.480 -0.859 1.312 0.691 0.000 0.159 0.013 976 . . . . PEG3 46 0 43 16 0.271186440677966 TRUE TRUE ENSG00000196476.12 . BCM GRCh38.p13 chr20 279284 279284 + C C T Missense_Mutation SNP ENST00000360321.7 exon5 c.G353A p.R118H exonic ENSG00000196476.12 . nonsynonymous SNV ENSG00000196476.12:ENST00000360321.7:exon5:c.G353A:p.R118H 20p13 C3L-03639 8.389e-06 0 0 0 0 0 0 6.08e-05 rs754475212 0.19 T T B B N N N T N 0.271 T T T 0.083 0.246 0.199 0.053 . T T T T T 0.775 9.148 0.779 N N -1.699 0.037 -1.533 0.096 1.000 0.789 0.710 0.768 0.692 . 4.920 3.820 0.621 -0.139 -0.661 0.245 0.010 0.002 862 . . . . C20orf96 374 1 592 97 0.140783744557329 TRUE NA ENSG00000101333.16 . BCM GRCh38.p13 chr20 9457453 9457453 + C C G Missense_Mutation SNP ENST00000378493.5 exon30 c.C3000G p.I1000M exonic ENSG00000101333.16 . nonsynonymous SNV ENSG00000101333.16:ENST00000378493.5:exon30:c.C3000G:p.I1000M 20p12.2 C3L-03639 . . . . . . . . . 4.20 T T B B D D N T N 0.391 T T T 0.053 0.238 0.375 0.299 T T T T T D 1.520 15.870 0.964 D N -0.480 1.217 -0.310 1.544 1.000 0.706 0.233 0.710 0.621 . 4.900 2.630 3.431 -0.562 -0.685 1.000 0.995 0.993 786 . . . . PLCB4 227 0 278 32 0.103225806451613 TRUE TRUE ENSG00000260903.3 . BCM GRCh38.p13 chr20 31996975 31996975 + G G A Missense_Mutation SNP ENST00000562532.3 exon3 c.G1258A p.V420I exonic ENSG00000260903.3 . nonsynonymous SNV ENSG00000260903.3:ENST00000562532.3:exon3:c.G1258A:p.V420I 20q11.21 C3L-03639 . . . . . . . . . 5.17 . T P B D D L . . 0.207 T T T 0.150 0.560 0.043 . T T T T D T 2.260 21.300 0.990 D D 0.248 3.520 0.305 3.746 0.969 0.646 0.590 0.645 0.542 . 5.020 5.020 3.841 1.172 0.672 1.000 0.995 0.930 499 . . . ID=COSV73813507;OCCURENCE=1(large_intestine),1(lung) XKR7 280 0 535 100 0.15748031496063 TRUE TRUE ENSG00000101162.4 . BCM GRCh38.p13 chr20 59023767 59023767 + G G A Missense_Mutation SNP ENST00000217133.2 exon4 c.G340A p.E114K exonic ENSG00000101162.4 . nonsynonymous SNV ENSG00000101162.4:ENST00000217133.2:exon4:c.G340A:p.E114K 20q13.32 C3L-03639 0.0001 9.617e-05 0 0 0 5.993e-05 0 0.0007 rs200931731 11.20 D D D B D D H T N 0.302 D T D 0.427 . 0.836 0.271 T T T T T D 2.680 22.800 0.998 D D 0.363 4.125 0.219 3.275 1.000 0.498 0.380 0.573 0.711 . 5.390 4.430 8.124 0.189 0.676 1.000 0.002 0.002 973 Tubulin/FtsZ,_GTPase_domain . . . TUBB1 212 0 320 71 0.181585677749361 TRUE NA ENSG00000221890.5 . BCM GRCh38.p13 chr22 38843830 38843830 + G G C Missense_Mutation SNP ENST00000333039.3 exon1 c.C29G p.A10G exonic ENSG00000221890.5 . nonsynonymous SNV ENSG00000221890.5:ENST00000333039.3:exon1:c.C29G:p.A10G 22q13.1 C3L-03639 . . . . . . . . . 7.18 D D D D . . L T N 0.172 T T D 0.109 0.365 0.285 . T T T T D T 3.795 25.800 0.982 D N 0.217 3.381 0.093 2.705 1.000 0.437 0.578 0.504 0.604 . 1.470 1.470 1.961 0.068 0.441 0.980 0.993 0.997 764 . . . . NPTXR 42 0 78 14 0.152173913043478 TRUE TRUE ENSG00000182872.16 . BCM GRCh38.p13 chrX 47176587 47176587 + G G C Splice_Site SNP NA NA NA NA splicing ENSG00000182872.16 ENST00000377604.8:exon7:c.663+1G>C . . Xp11.3 C3L-03639 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.570 34 0.995 D . . . . . 1.000 . . . . 0.974 4.720 4.720 9.728 1.166 0.663 1.000 1.000 0.997 332 . . . . RBM10 224 0 202 120 0.372670807453416 TRUE TRUE ENSG00000142611.17 . BCM GRCh38.p13 chr1 3186327 3186327 + C C T Silent SNP ENST00000270722.10 exon2 c.C240T p.I80I exonic ENSG00000142611.17 . synonymous SNV ENSG00000142611.17:ENST00000270722.10:exon2:c.C240T:p.I80I 1p36.32 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRDM16 89 0 172 35 0.169082125603865 TRUE TRUE ENSG00000065526.12 . BCM GRCh38.p13 chr1 15934232 15934232 + G G A Silent SNP ENST00000375759.8 exon11 c.G7992A p.P2664P exonic ENSG00000065526.12 . synonymous SNV ENSG00000065526.12:ENST00000375759.8:exon11:c.G7992A:p.P2664P 1p36.13 C3L-03639 5.774e-05 0 0.0006 0 0 0 0 0 rs757330925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SPEN 222 1 354 93 0.208053691275168 TRUE NA ENSG00000184313.20 . BCM GRCh38.p13 chr1 54679980 54679980 + C C G Silent SNP ENST00000414150.6 exon13 c.C2316G p.L772L exonic ENSG00000184313.20;ENSG00000271723.5 . synonymous SNV ENSG00000271723.5:ENST00000414150.6:exon13:c.C2316G:p.L772L,ENSG00000184313.20:ENST00000421030.7:exon13:c.C2316G:p.L772L 1p32.3 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MROH7 282 0 439 80 0.154142581888247 TRUE TRUE ENSG00000157064.11 . BCM GRCh38.p13 chr1 183293744 183293744 + G G A Silent SNP ENST00000287713.7 exon2 c.C135T p.G45G exonic ENSG00000157064.11 . synonymous SNV ENSG00000157064.11:ENST00000287713.7:exon2:c.C135T:p.G45G 1q25.3 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54270332;OCCURENCE=1(pancreas),1(endometrium) NMNAT2 287 0 376 27 0.0669975186104218 TRUE TRUE ENSG00000136002.19 . BCM GRCh38.p13 chr2 131038855 131038855 + C C T Silent SNP ENST00000326016.10 exon6 c.C570T p.L190L exonic ENSG00000136002.19 . synonymous SNV ENSG00000136002.19:ENST00000326016.10:exon6:c.C570T:p.L190L 2q21.1 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARHGEF4 82 0 114 8 0.0655737704918033 TRUE TRUE ENSG00000004399.12 . BCM GRCh38.p13 chr3 129571196 129571196 + G G A Silent SNP ENST00000324093.8 exon18 c.C3444T p.D1148D exonic ENSG00000004399.12 . synonymous SNV ENSG00000004399.12:ENST00000324093.8:exon18:c.C3444T:p.D1148D 3q22.1 C3L-03639 0.0033 9.647e-05 8.639e-05 0 0 3e-05 0.0022 0.0240 rs148029269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLXND1 621 0 799 204 0.203389830508475 TRUE NA ENSG00000152977.10 . BCM GRCh38.p13 chr3 147410232 147410232 + C C T Silent SNP ENST00000282928.5 exon1 c.C120T p.F40F exonic ENSG00000152977.10 . synonymous SNV ENSG00000152977.10:ENST00000282928.5:exon1:c.C120T:p.F40F 3q24 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV51551108;OCCURENCE=1(large_intestine) ZIC1 326 0 492 103 0.173109243697479 TRUE TRUE ENSG00000090402.8 . BCM GRCh38.p13 chr3 165043068 165043068 + G G A Silent SNP ENST00000264382.8 exon17 c.C1995T p.D665D exonic ENSG00000090402.8 . synonymous SNV ENSG00000090402.8:ENST00000264382.8:exon17:c.C1995T:p.D665D 3q26.1 C3L-03639 1.653e-05 0 0.0002 0 0 0 0 0 rs757380218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52272737;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) SI 266 1 208 42 0.168 TRUE TRUE ENSG00000137462.8 . BCM GRCh38.p13 chr4 153703993 153703993 + A A G Silent SNP ENST00000260010.6 exon1 c.A1086G p.L362L exonic ENSG00000137462.8 . synonymous SNV ENSG00000137462.8:ENST00000260010.6:exon1:c.A1086G:p.L362L 4q31.3 C3L-03639 8.334e-06 0 0 0.0001 0 0 0 0 rs765818382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TLR2 141 0 145 45 0.236842105263158 TRUE NA ENSG00000164393.8 . BCM GRCh38.p13 chr6 47681807 47681807 + C C A Silent SNP ENST00000296862.5 exon6 c.C1248A p.S416S exonic ENSG00000164393.8 . synonymous SNV ENSG00000164393.8:ENST00000296862.5:exon6:c.C1248A:p.S416S 6p12.3 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRF2 194 0 292 19 0.0610932475884244 TRUE TRUE ENSG00000047936.10 . BCM GRCh38.p13 chr6 117365695 117365695 + C C T Silent SNP ENST00000368508.7 exon19 c.G2859A p.E953E exonic ENSG00000047936.10 . synonymous SNV ENSG00000047936.10:ENST00000368508.7:exon19:c.G2859A:p.E953E 6q22.1 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ROS1 87 0 68 27 0.284210526315789 TRUE TRUE ENSG00000266524.3 . BCM GRCh38.p13 chr10 47310040 47310040 + C C T Silent SNP ENST00000580279.2 exon2 c.C564T p.R188R exonic ENSG00000266524.3 . synonymous SNV ENSG00000266524.3:ENST00000580279.2:exon2:c.C564T:p.R188R 10q11.22 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GDF10 125 0 173 41 0.191588785046729 TRUE TRUE ENSG00000204130.13 . BCM GRCh38.p13 chr10 68396785 68396785 + G G C Silent SNP ENST00000602465.5 exon4 c.C393G p.L131L exonic ENSG00000204130.13 . synonymous SNV ENSG00000204130.13:ENST00000602465.5:exon4:c.C393G:p.L131L 10q21.3 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RUFY2 142 0 201 15 0.0694444444444444 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11781121 11781121 + C C T Silent SNP ENST00000262442.9 exon39 c.C7665T p.Y2555Y exonic ENSG00000007174.18 . synonymous SNV ENSG00000007174.18:ENST00000262442.9:exon39:c.C7665T:p.Y2555Y 17p12 C3L-03639 5.002e-05 0 0 0.0002 0 6.064e-05 0 0 rs529737124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH9 175 0 250 33 0.11660777385159 TRUE NA ENSG00000130881.14 . BCM GRCh38.p13 chr19 33206727 33206727 + G G A Silent SNP ENST00000253193.9 exon6 c.G1719A p.A573A exonic ENSG00000130881.14 . synonymous SNV ENSG00000130881.14:ENST00000253193.9:exon6:c.G1719A:p.A573A 19q13.11 C3L-03639 0.0002 9.833e-05 8.723e-05 0 0.0017 0.0001 0.0013 0.0001 rs148993115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRP3 21 0 32 4 0.111111111111111 TRUE NA ENSG00000198300.14 . BCM GRCh38.p13 chr19 56817233 56817233 + C C T Silent SNP ENST00000326441.15 exon10 c.G1209A p.S403S exonic ENSG00000198300.14 . synonymous SNV ENSG00000198300.14:ENST00000326441.15:exon10:c.G1209A:p.S403S 19q13.43 C3L-03639 1.651e-05 0 8.637e-05 0.0001 0 0 0 0 rs751816891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV55626305;OCCURENCE=1(skin),1(lung),1(endometrium) PEG3 237 0 268 75 0.21865889212828 TRUE TRUE ENSG00000215568.9 . BCM GRCh38.p13 chr22 16969953 16969953 + C C T Silent SNP ENST00000400588.5 exon4 c.G927A p.A309A exonic ENSG00000215568.9 . synonymous SNV ENSG00000215568.9:ENST00000400588.5:exon4:c.G927A:p.A309A 22q11.1 C3L-03639 5.795e-05 0.0002 0 0.0003 0 0 0 0.0001 rs756284558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GAB4 374 2 454 210 0.316265060240964 TRUE NA ENSG00000249592.6 . BCM GRCh38.p13 chr4 781196 781196 + A A C RNA SNP NA NA NA NA ncRNA_intronic ENSG00000249592.6 . . . 4p16.3 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC139887.2 13 0 19 20 0.512820512820513 TRUE NA ENSG00000207692.3 . BCM GRCh38.p13 chr7 127058102 127058102 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000207692.3 . . . 7q31.33 C3L-03639 . . . . . . . . rs1027479075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR592 116 0 165 28 0.145077720207254 TRUE NA ENSG00000197558.13 . BCM GRCh38.p13 chr7 149819419 149819419 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000197558.13 . . . 7q36.1 C3L-03639 0.0005 0 0 0 0 0.0009 0.0015 0 rs376818048 2.6 . D . . . . . . . 0.395 . . . . . 0.165 . T . T T . T 3.548 24.900 0.892 D . . . . . 0.920 0.056 0.063 0.072 0.079 0.812 4.050 3.150 1.302 0.074 0.599 0.349 0.795 0.595 982 . . . ID=COSV100946961;OCCURENCE=1(pancreas) SSPO 204 0 425 46 0.0976645435244161 TRUE NA ENSG00000095777.17 . BCM GRCh38.p13 chr10 26212026 26212026 + A A C 3'UTR SNP NA NA NA NA UTR3 ENSG00000095777.17 ENST00000642920.2:c.*63A>C . . 10p12.1 C3L-03639 . . . . . . . . . 2.16 D . B B . N . T N 0.266 T T D 0.117 0.446 0.173 . . T T T T T 0.136 2.431 0.510 N N -0.891 0.531 -0.958 0.542 0.789 0.443 0.563 0.666 0.564 . 4.460 0.875 -0.430 0.186 0.756 0.000 0.002 0.007 670 . . . . MYO3A 54 0 134 13 0.0884353741496599 TRUE TRUE ENSG00000139910.20 . BCM GRCh38.p13 chr14 26472253 26472253 + - NA T Intron SNP NA NA NA NA intronic ENSG00000139910.20 . . . 14q12 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NOVA1 NA NA NA NA NA NA NA ENSG00000168746.8 . BCM GRCh38.p13 chr20 44461944 44461944 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000168746.8 . . . 20q13.12 C3L-03639 0.0073 0 0.0156 0 0 0.0048 0 0.0100 rs180762562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01620 219 0 355 34 0.0874035989717224 TRUE NA ENSG00000242520.5 . BCM GRCh38.p13 chrX 152115177 152115177 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000242520.5;ENSG00000266560.5 . . . Xq28 C3L-03639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEA5 175 0 125 203 0.61890243902439 TRUE NA ENSG00000196182.11 . BCM GRCh38.p13 chr1 36341850 36341850 + C C T Missense_Mutation SNP ENST00000373132.4 exon11 c.G1213A p.G405S exonic ENSG00000196182.11 . nonsynonymous SNV ENSG00000196182.11:ENST00000373132.4:exon11:c.G1213A:p.G405S 1p34.3 C3N-04282 1.659e-05 9.682e-05 0 0 0 1.511e-05 0 0 rs200773119 7.20 T T D B D D L T N 0.659 T T D 0.164 . 0.375 0.618 T T T T T D 2.302 21.600 0.990 D D 0.146 3.071 0.232 3.345 1.000 0.707 0.702 0.725 0.636 . 5.180 5.180 7.489 1.010 0.580 1.000 0.928 0.836 120 . . . ID=COSV63735707;OCCURENCE=1(large_intestine) STK40 301 0 426 96 0.183908045977011 TRUE TRUE ENSG00000066557.6 . BCM GRCh38.p13 chr1 70152466 70152466 + C C A Missense_Mutation SNP ENST00000370952.4 exon12 c.G1406T p.C469F exonic ENSG00000066557.6 . nonsynonymous SNV ENSG00000066557.6:ENST00000370952.4:exon12:c.G1406T:p.C469F 1p31.1 C3N-04282 . . . . . . . . . 11.20 D T D P D D M T D 0.697 T T D 0.243 0.504 0.805 0.377 T T D T D T 3.648 25.200 0.991 D D 0.464 4.767 0.506 5.218 1.000 0.732 0.744 0.710 0.613 . 5.550 5.550 4.476 0.929 0.599 0.994 0.993 0.996 899 . . . . LRRC40 83 0 193 25 0.114678899082569 TRUE TRUE ENSG00000197915.7 . BCM GRCh38.p13 chr1 152216060 152216060 + T T G Missense_Mutation SNP ENST00000368801.4 exon3 c.A5569C p.S1857R exonic ENSG00000197915.7 . nonsynonymous SNV ENSG00000197915.7:ENST00000368801.4:exon3:c.A5569C:p.S1857R 1q21.3 C3N-04282 . . . . . . . . . 2.19 T D B B . N M T N 0.236 T T T 0.018 0.306 0.175 . T T T T T T 0.048 1.663 0.474 N N -1.557 0.065 -1.682 0.055 0.022 0.554 0.852 0.574 0.621 . 3.930 -6.460 -2.475 -0.698 -0.156 0.000 0.000 0.003 568 . . . . HRNR 1660 1 2766 147 0.0504634397528321 NA TRUE ENSG00000162849.16 . BCM GRCh38.p13 chr1 245688799 245688799 + C C G Missense_Mutation SNP ENST00000407071.7 exon12 c.C5816G p.S1939C exonic ENSG00000162849.16 . nonsynonymous SNV ENSG00000162849.16:ENST00000407071.7:exon12:c.C5816G:p.S1939C 1q44 C3N-04282 . . . . . . . . . 7.19 D D P B . D M T D 0.272 D T D 0.262 0.223 0.316 0.294 T T T T T T 2.554 22.500 0.904 N N 0.017 2.573 -0.060 2.165 0.997 0.706 0.710 0.607 0.563 . 5.330 5.330 1.877 0.866 0.505 0.446 0.125 0.062 965 . . . . KIF26B 85 0 106 31 0.226277372262774 TRUE TRUE ENSG00000144028.15 . BCM GRCh38.p13 chr2 96281896 96281896 + G G A Missense_Mutation SNP ENST00000323853.10 exon35 c.C4942T p.R1648W exonic ENSG00000144028.15 . nonsynonymous SNV ENSG00000144028.15:ENST00000323853.10:exon35:c.C4942T:p.R1648W 2q11.2 C3N-04282 1.648e-05 0 0 0 0 2.998e-05 0 0 rs377595031 19.20 D D D D D D M T D 0.935 D D D 0.781 . 0.849 2.143 D D D D D D 4.293 29.500 0.999 D D 0.730 7.561 0.639 6.750 0.999 0.707 0.702 0.725 0.711 . 5.320 3.400 5.106 1.176 0.676 1.000 1.000 1.000 291 Helicase,_C-terminal . . ID=COSV100108041;OCCURENCE=1(lung) SNRNP200 195 0 286 73 0.203342618384401 TRUE NA ENSG00000138439.12 . BCM GRCh38.p13 chr2 202726233 202726258 + TATTTTTGCTTTCTCAGATTGCAAAA TATTTTTGCTTTCTCAGATTGCAAAA - In_Frame_Del DEL ENST00000392238.3 exon4 c.847_855del p.I283_K285del exonic ENSG00000138439.12 . nonframeshift deletion ENSG00000138439.12:ENST00000392238.3:exon4:c.847_855del:p.I283_K285del 2q33.2 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FAM117B 196 0 217 89 0.290849673202614 NA TRUE ENSG00000123989.14 . BCM GRCh38.p13 chr2 219543331 219543331 + C C G Missense_Mutation SNP ENST00000243776.11 exon1 c.G208C p.E70Q exonic ENSG00000123989.14 . nonsynonymous SNV ENSG00000123989.14:ENST00000243776.11:exon1:c.G208C:p.E70Q 2q35 C3N-04282 . . . . . . . . . 2.20 T T P B N N N T N 0.148 T T D 0.022 0.135 0.354 0.830 D T T T T T 2.072 19.800 0.871 N N -0.726 0.770 -0.670 0.943 1.000 0.726 0.594 0.522 0.568 . 3.090 1.170 0.479 0.954 0.459 0.072 0.964 0.904 115 . . . . CHPF 233 0 318 69 0.178294573643411 TRUE TRUE ENSG00000132182.12 . BCM GRCh38.p13 chr3 13319958 13319958 + C C T Missense_Mutation SNP ENST00000254508.7 exon37 c.G5188A p.V1730M exonic ENSG00000132182.12 . nonsynonymous SNV ENSG00000132182.12:ENST00000254508.7:exon37:c.G5188A:p.V1730M 3p25.1 C3N-04282 1.675e-05 0 0 0.0001 0 1.527e-05 0 0 rs773034259 7.20 D D D P N D M T N 0.455 T T T 0.149 . 0.409 0.483 T T T T T D 3.016 23.400 0.996 D N 0.135 3.026 0.066 2.597 0.695 0.745 0.702 0.732 0.655 . 5.660 4.790 1.844 1.026 0.599 0.936 0.003 0.001 878 . . . ID=COSV54404122;OCCURENCE=1(large_intestine) NUP210 244 0 370 135 0.267326732673267 TRUE TRUE ENSG00000114529.12 . BCM GRCh38.p13 chr3 112109567 112109567 + C C G Missense_Mutation SNP ENST00000264848.9 exon4 c.C421G p.P141A exonic ENSG00000114529.12 . nonsynonymous SNV ENSG00000114529.12:ENST00000264848.9:exon4:c.C421G:p.P141A 3q13.2 C3N-04282 . . . . . . . . . 5.14 T D . . D D . T D 0.328 T T T 0.166 0.278 0.136 . . . T T D . 1.167 13.370 0.992 N N 0.294 3.750 0.151 2.952 1.000 0.615 0.588 0.659 0.568 . 4.990 4.990 1.706 1.010 0.580 0.292 0.451 0.876 830 . . . . C3orf52 112 0 190 52 0.214876033057851 TRUE NA ENSG00000114019.14 . BCM GRCh38.p13 chr3 134367549 134367549 + C C T Missense_Mutation SNP ENST00000422605.6 exon3 c.G989A p.R330Q exonic ENSG00000114019.14 . nonsynonymous SNV ENSG00000114019.14:ENST00000422605.6:exon3:c.G989A:p.R330Q 3q22.2 C3N-04282 8.331e-06 0 0 0 0 1.518e-05 0 0 rs756431790 3.20 T T B B D D L T N 0.171 T T T 0.034 . 0.218 0.158 T T T T T D 1.807 17.780 0.999 N N -0.596 0.994 -0.497 1.207 1.000 0.778 0.616 0.854 0.735 . 5.360 2.080 -0.379 0.949 0.524 0.016 0.993 0.995 768 . . . . AMOTL2 526 0 707 253 0.263541666666667 TRUE NA ENSG00000047662.5 . BCM GRCh38.p13 chr4 17709488 17709488 + G G A Missense_Mutation SNP ENST00000265018.4 exon2 c.C298T p.R100C exonic ENSG00000047662.5 . nonsynonymous SNV ENSG00000047662.5:ENST00000265018.4:exon2:c.C298T:p.R100C 4p15.31 C3N-04282 . . . . . . . . . 16.20 D D D D N D M T D 0.303 D D D 0.516 . 0.513 . T T D D D D 4.435 31 0.999 D D 0.708 7.239 0.672 7.258 1.000 0.554 0.588 0.573 0.564 . 4.650 4.650 8.320 1.176 0.676 1.000 0.342 0.917 790 Protein_FAM184A/B,_N-terminal . . ID=COSV53958874;OCCURENCE=1(breast) FAM184B 141 0 225 86 0.276527331189711 TRUE TRUE ENSG00000145147.20 . BCM GRCh38.p13 chr4 20523888 20523888 + G G A Missense_Mutation SNP ENST00000504154.6 exon13 c.G1259A p.R420Q exonic ENSG00000145147.20 . nonsynonymous SNV ENSG00000145147.20:ENST00000504154.6:exon13:c.G1259A:p.R420Q 4p15.31 C3N-04282 8.238e-06 0 0 0 0 1.499e-05 0 0 rs749945090 9.20 T T D B D D N T N 0.908 T T T 0.297 0.397 0.847 1.069 T T D D D D 3.656 25.200 0.999 D D 0.288 3.715 0.436 4.626 1.000 0.706 0.574 0.653 0.613 . 5.300 5.300 9.985 1.176 0.676 1.000 0.999 0.998 853 . . . . SLIT2 165 0 272 90 0.248618784530387 TRUE NA ENSG00000113088.6 . BCM GRCh38.p13 chr5 55024807 55024807 + G G A Missense_Mutation SNP ENST00000231009.3 exon2 c.G212A p.R71Q exonic ENSG00000113088.6 . nonsynonymous SNV ENSG00000113088.6:ENST00000231009.3:exon2:c.G212A:p.R71Q 5q11.2 C3N-04282 0.0006 9.707e-05 0.0004 0 0 4.562e-05 0 0.0039 rs559900915 1.20 T T B B N N L D N 0.135 T T T 0.215 0.402 0.554 0.048 T T T T T T 1.369 14.870 0.770 N N -1.892 0.015 -1.870 0.025 0.001 0.516 0.610 0.574 0.613 . 4.550 -1.730 -1.011 -0.130 -0.854 0.000 0.002 0.000 477 Serine_proteases,_trypsin_domain . . . GZMK 39 0 63 10 0.136986301369863 TRUE NA ENSG00000171617.14 . BCM GRCh38.p13 chr5 74636343 74636343 + A A T Missense_Mutation SNP ENST00000651128.1 exon3 c.T143A p.V48D exonic ENSG00000171617.14 . nonsynonymous SNV ENSG00000171617.14:ENST00000651128.1:exon3:c.T143A:p.V48D 5q13.3 C3N-04282 . . . . . . . . . 19.20 D D D D D D H T D 0.960 D D D 0.936 0.847 0.879 2.504 D D D D D D 4.289 29.500 0.940 D D 1.071 16.334 0.977 17.493 1.000 0.722 0.699 0.710 0.735 . 5.740 5.740 9.325 1.312 0.756 1.000 0.810 0.951 428 BTB/POZ_domain . . . ENC1 340 0 348 129 0.270440251572327 TRUE TRUE ENSG00000204956.5 . BCM GRCh38.p13 chr5 141331611 141331611 + C C A Missense_Mutation SNP ENST00000517417.2 exon1 c.C927A p.F309L exonic ENSG00000204956.5 . nonsynonymous SNV ENSG00000204956.5:ENST00000517417.2:exon1:c.C927A:p.F309L 5q31.3 C3N-04282 . . . . . . . . . 5.19 D D P P N N M T D 0.551 T T T 0.139 0.629 0.323 0.582 . T T T D T 0.303 4.325 0.991 N N -0.441 1.296 -0.667 0.947 0.960 0.549 0.574 0.547 0.616 . 3.990 -5.810 -1.513 -4.327 -2.735 0.000 0.269 0.807 472 Cadherin-like . . . PCDHGA1 122 0 168 60 0.263157894736842 TRUE TRUE ENSG00000146963.18 . BCM GRCh38.p13 chr7 139409602 139409602 + C C G Missense_Mutation SNP ENST00000354926.9 exon7 c.C727G p.R243G exonic ENSG00000146963.18;ENSG00000269955.2 . nonsynonymous SNV ENSG00000146963.18:ENST00000354926.9:exon7:c.C727G:p.R243G,ENSG00000269955.2:ENST00000541515.3:exon8:c.C925G:p.R309G 7q34 C3N-04282 . . . . . . . . . 10.18 D T D D D . L T D 0.381 T T D 0.161 0.404 0.151 2.969 . T T T D D 3.770 25.700 0.997 D D 0.630 6.240 0.598 6.198 0.868 0.732 0.725 0.744 0.714 . 4.890 4.890 2.680 1.007 0.589 1.000 0.998 0.994 834 . . . . LUC7L2 87 0 172 39 0.184834123222749 TRUE TRUE ENSG00000257743.8 . BCM GRCh38.p13 chr7 142186004 142186004 + G G A Missense_Mutation SNP ENST00000477922.3 exon35 c.G4003A p.V1335I exonic ENSG00000257743.8 . nonsynonymous SNV ENSG00000257743.8:ENST00000477922.3:exon35:c.G4003A:p.V1335I 7q34 C3N-04282 . . . . . . . . rs937654142 4.11 . D . . D . . . . 0.146 T T T 0.207 . 0.055 . . T T T D . 2.622 22.700 0.998 D N -0.021 2.438 -0.066 2.148 1.000 0.487 0.563 0.574 0.564 . 4.800 3.920 1.937 1.176 0.676 0.144 0.542 0.818 934 . . . ID=COSV72176648;OCCURENCE=1(ovary),2(skin) MGAM2 111 0 197 64 0.245210727969349 TRUE TRUE ENSG00000129696.13 . BCM GRCh38.p13 chr8 33512031 33512031 + C C G Missense_Mutation SNP ENST00000431156.7 exon2 c.G583C p.E195Q exonic ENSG00000129696.13 . nonsynonymous SNV ENSG00000129696.13:ENST00000431156.7:exon2:c.G583C:p.E195Q 8p12 C3N-04282 . . . . . . . . . 4.20 D T P B N N M T N 0.243 T T D 0.316 0.437 0.408 0.476 T T T T D T 1.940 18.790 0.989 N N -0.191 1.903 -0.284 1.597 1.000 0.660 0.587 0.663 0.639 . 4.660 3.780 1.276 0.129 -0.182 0.348 0.457 0.515 863 . . . . TTI2 344 0 401 200 0.332778702163062 TRUE TRUE ENSG00000182674.6 . BCM GRCh38.p13 chr8 72936799 72936799 + G G A Missense_Mutation SNP ENST00000523207.2 exon3 c.G1444A p.A482T exonic ENSG00000182674.6 . nonsynonymous SNV ENSG00000182674.6:ENST00000523207.2:exon3:c.G1444A:p.A482T 8q21.11 C3N-04282 1.65e-05 0 0 0 0 3.001e-05 0 0 rs770363006 0.20 T T B B N N N T N 0.012 T T T 0.093 0.368 0.420 0.539 T T T T T T 0.128 2.353 0.735 N N -1.060 0.343 -1.041 0.440 0.000 0.554 0.547 0.602 0.564 . 5.470 -0.202 -0.227 1.176 0.676 0.000 0.076 0.285 847 . . . ID=COSV73050496;OCCURENCE=1(large_intestine) KCNB2 135 0 224 107 0.323262839879154 TRUE TRUE ENSG00000154493.19 . BCM GRCh38.p13 chr10 126459124 126459124 + G G A Missense_Mutation SNP ENST00000284694.11 exon6 c.C1813T p.R605W exonic ENSG00000154493.19 . nonsynonymous SNV ENSG00000154493.19:ENST00000284694.11:exon6:c.C1813T:p.R605W 10q26.2 C3N-04282 5.766e-05 0 0 0 0 2.997e-05 0 0.0003 rs756021619 9.19 D D D P N N L T D 0.487 T T D 0.223 . 0.534 0.276 . T T T D D 4.097 27.700 0.999 D D 0.479 4.873 0.443 4.679 1.000 0.487 0.574 0.574 0.564 . 4.950 4.000 4.588 1.157 0.654 1.000 0.039 0.085 623 ALMS_motif . . ID=COSV99504737;OCCURENCE=1(breast) C10orf90 275 1 504 125 0.19872813990461 TRUE NA ENSG00000133703.13 . BCM GRCh38.p13 chr12 25227341 25227341 + T T G Missense_Mutation SNP ENST00000256078.10 exon3 c.A183C p.Q61H exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon3:c.A183C:p.Q61H 12p12.1 C3N-04282 . . . . . . . . rs17851045 17.20 D D B B D D M D D 0.760 D D D 0.644 0.659 0.905 1.857 D D D D D T 2.993 23.400 0.997 D D 0.298 3.768 0.383 4.239 0.998 0.722 0.710 0.710 0.735 . 5.770 5.770 2.812 1.120 0.644 1.000 1.000 1.000 855 Small_GTP-binding_protein_domain . . ID=COSV55498802;OCCURENCE=2(breast),6(liver),1(genital_tract),1(cervix),117(large_intestine),2(central_nervous_system),17(biliary_tract),3(ovary),8(stomach),50(haematopoietic_and_lymphoid_tissue),2(urinary_tract),1(kidney),71(pancreas),2(skin),2(prostate),28(lung),1(thyroid),2(small_intestine),5(endometrium) KRAS 172 0 199 163 0.450276243093923 TRUE TRUE ENSG00000189079.17 . BCM GRCh38.p13 chr12 45837391 45837391 + C C - Nonsense_Mutation SNP ENST00000334344.11 exon9 c.1094delC p.S365* exonic ENSG00000189079.17 . stopgain ENSG00000189079.17:ENST00000334344.11:exon9:c.1094delC:p.S365* 12q12 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ARID2 45 0 58 42 0.42 TRUE TRUE ENSG00000100926.15 . BCM GRCh38.p13 chr14 24192840 24192840 + G G A Missense_Mutation SNP ENST00000261789.9 exon3 c.C775T p.R259C exonic ENSG00000100926.15;ENSG00000254692.1 . nonsynonymous SNV ENSG00000100926.15:ENST00000261789.9:exon3:c.C775T:p.R259C,ENSG00000254692.1:ENST00000530611.1:exon7:c.C1402T:p.R468C 14q12 C3N-04282 8.263e-06 0 0 0 0 1.502e-05 0 0 rs759491065 17.19 D D D D D D H T D 0.893 D D D 0.771 0.843 0.909 1.514 D T D D D . 4.426 31 0.999 D D 0.823 9.250 0.695 7.666 1.000 0.707 0.702 0.702 0.714 . 5.100 4.210 4.196 1.176 0.676 1.000 1.000 0.999 895 . . . ID=COSV55778221;OCCURENCE=2(large_intestine),1(endometrium) TM9SF1 70 0 112 44 0.282051282051282 TRUE TRUE ENSG00000169783.12 . BCM GRCh38.p13 chr15 77614913 77614913 + G G A Missense_Mutation SNP ENST00000355300.6 exon2 c.C994T p.R332C exonic ENSG00000169783.12 . nonsynonymous SNV ENSG00000169783.12:ENST00000355300.6:exon2:c.C994T:p.R332C 15q24.3 C3N-04282 8.367e-06 0 0 0 0 0 0 6.112e-05 rs758132909 12.20 D D D P D D L T D 0.759 T T D 0.324 0.639 0.378 2.079 T T T D D D 3.757 25.600 0.999 D D 0.528 5.262 0.553 5.683 0.999 0.707 0.588 0.725 0.568 . 5.080 5.080 5.170 1.172 0.672 1.000 0.998 0.993 0 . . . ID=COSV62438690;OCCURENCE=1(large_intestine),1(skin) LINGO1 213 0 371 122 0.247464503042596 TRUE TRUE ENSG00000122257.20 . BCM GRCh38.p13 chr16 24559539 24559539 + C C - Frame_Shift_Del DEL ENST00000319715.10 exon8 c.709delC p.F238Sfs*29 exonic ENSG00000122257.20 . frameshift deletion ENSG00000122257.20:ENST00000319715.10:exon8:c.709delC:p.F238Sfs*29 16p12.1 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RBBP6 78 0 98 47 0.324137931034483 TRUE TRUE ENSG00000178188.14 . BCM GRCh38.p13 chr16 28866399 28866399 + C C T Missense_Mutation SNP ENST00000322610.12 exon4 c.C305T p.S102L exonic ENSG00000178188.14 . nonsynonymous SNV ENSG00000178188.14:ENST00000322610.12:exon4:c.C305T:p.S102L 16p11.2 C3N-04282 . . . . . . . . . 2.20 T T B B N D N T N 0.144 T T D 0.119 0.272 0.068 0.208 T T T T T T 0.766 9.063 0.960 N N -0.747 0.735 -0.612 1.029 1.000 0.745 0.744 0.723 0.762 . 4.800 3.830 0.806 0.966 0.528 0.000 0.036 0.583 289 . . . ID=COSV59466817;OCCURENCE=1(endometrium) SH2B1 179 0 248 54 0.178807947019868 TRUE TRUE ENSG00000141013.17 . BCM GRCh38.p13 chr16 90043214 90043214 + C C T Missense_Mutation SNP ENST00000268699.9 exon11 c.C1306T p.R436C exonic ENSG00000141013.17 . nonsynonymous SNV ENSG00000141013.17:ENST00000268699.9:exon11:c.C1306T:p.R436C 16q24.3 C3N-04282 0.0003 0.0005 0 0 0 0 0 0.0015 rs555627699 9.19 D D D P N D . T D 0.437 T T D 0.167 0.340 0.511 0.063 T T T T T D 4.040 27.300 0.999 D D 0.571 5.636 0.565 5.814 1.000 0.707 0.574 0.723 0.714 . 5.510 5.510 2.289 0.921 0.599 1.000 0.941 0.825 779 . . . ID=COSV99243807;OCCURENCE=1(endometrium) GAS8 80 0 90 27 0.230769230769231 TRUE NA ENSG00000185158.12 . BCM GRCh38.p13 chr17 32022046 32022046 + G G T Missense_Mutation SNP ENST00000394713.7 exon1 c.G900T p.Q300H exonic ENSG00000185158.12 . nonsynonymous SNV ENSG00000185158.12:ENST00000394713.7:exon1:c.G900T:p.Q300H 17q11.2 C3N-04282 . . . . . . . . . 5.19 T T D D . N M T D 0.101 T T T 0.103 0.295 0.509 0.292 T T T T D T 0.793 9.319 0.927 N N -0.628 0.938 -0.910 0.607 0.000 0.651 0.654 0.651 0.492 . 1.530 -1.270 -0.437 0.852 0.262 0.000 0.020 0.013 961 Leucine-rich_repeat-containing_protein_37,_N-terminal . . . LRRC37B 339 1 326 214 0.396296296296296 NA TRUE ENSG00000108883.13 . BCM GRCh38.p13 chr17 44862735 44862735 + G G A Missense_Mutation SNP ENST00000426333.7 exon16 c.C1585T p.R529C exonic ENSG00000108883.13 . nonsynonymous SNV ENSG00000108883.13:ENST00000426333.7:exon16:c.C1585T:p.R529C 17q21.31 C3N-04282 . . . . . . . . rs376157050 19.20 D D D D D D H T D 0.840 D D D 0.425 . 0.546 1.784 D D D D D D 4.439 31 0.999 D D 0.998 13.850 0.953 16.217 1.000 0.722 0.702 0.725 0.735 . 6.160 6.160 6.242 1.176 0.676 1.000 1.000 0.997 560 Translation_elongation_factor_EFTu-like,_domain_2 . . ID=COSV101274541;OCCURENCE=1(upper_aerodigestive_tract) EFTUD2 88 0 137 48 0.259459459459459 TRUE NA ENSG00000108375.12 . BCM GRCh38.p13 chr17 58360862 58360862 + C C - Frame_Shift_Del DEL ENST00000584437.5 exon6 c.770delG p.G257Vfs*162 exonic ENSG00000108375.12;ENSG00000285897.1 . frameshift deletion ENSG00000108375.12:ENST00000584437.5:exon6:c.770delG:p.G257Vfs*162,ENSG00000285897.1:ENST00000648873.1:exon6:c.770delG:p.G257Vfs*162 17q22 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF43 183 0 229 76 0.249180327868852 TRUE TRUE ENSG00000182687.4 . BCM GRCh38.p13 chr17 76076994 76076994 + G G A Missense_Mutation SNP ENST00000329003.4 exon2 c.G727A p.A243T exonic ENSG00000182687.4 . nonsynonymous SNV ENSG00000182687.4:ENST00000329003.4:exon2:c.G727A:p.A243T 17q25.1 C3N-04282 . . . . . . . . . 2.20 T T B B N N L T N 0.093 T T T 0.054 0.509 0.409 . T T T T T D 2.546 22.500 0.995 D N -0.314 1.579 -0.307 1.550 1.000 0.765 0.628 0.607 0.621 . 4.850 2.600 2.907 1.172 0.672 0.223 0.951 0.993 676 GPCR,_rhodopsin-like,_7TM . . ID=COSV57162907;OCCURENCE=3(stomach) GALR2 256 0 374 126 0.252 TRUE TRUE ENSG00000105429.13 . BCM GRCh38.p13 chr19 42348404 42348404 + G G A Missense_Mutation SNP ENST00000251268.11 exon13 c.G2230A p.V744M exonic ENSG00000105429.13 . nonsynonymous SNV ENSG00000105429.13:ENST00000251268.11:exon13:c.G2230A:p.V744M 19q13.2 C3N-04282 . . . . . . . . rs1015184528 4.20 T T B B D D N T N 0.141 T T D 0.031 0.227 0.143 . T T T T T T 1.885 18.370 0.990 D N -0.040 2.373 0.051 2.544 0.872 0.707 0.634 0.723 0.714 . 5.200 5.200 3.358 1.176 0.618 0.999 0.698 0.168 551 . . . . MEGF8 150 0 119 137 0.53515625 TRUE NA ENSG00000124225.16 . BCM GRCh38.p13 chr20 57652585 57652585 + G G T Missense_Mutation SNP ENST00000341744.8 exon4 c.C332A p.A111D exonic ENSG00000124225.16 . nonsynonymous SNV ENSG00000124225.16:ENST00000341744.8:exon4:c.C332A:p.A111D 20q13.31 C3N-04282 . . . . . . . . . 7.20 T T P B D D M T N 0.508 T T D 0.106 0.244 0.214 1.320 T T T T D T 2.665 22.800 0.981 D D 0.201 3.308 0.264 3.513 1.000 0.707 0.610 0.723 0.714 . 5.320 5.320 4.368 1.176 0.618 0.997 0.931 0.846 865 . . . . PMEPA1 18 0 23 16 0.41025641025641 TRUE TRUE ENSG00000215440.12 . BCM GRCh38.p13 chr20 58701082 58701082 + A A G Missense_Mutation SNP ENST00000356091.11 exon6 c.A746G p.D249G exonic ENSG00000215440.12 . nonsynonymous SNV ENSG00000215440.12:ENST00000356091.11:exon6:c.A746G:p.D249G 20q13.32 C3N-04282 . . . . . . . . . 5.20 T T B B N N N T D 0.278 T T T 0.105 0.341 0.428 0.306 T T T T D D 2.546 22.500 0.943 D D -0.719 0.781 -0.615 1.023 1.000 0.732 0.644 0.723 0.728 . 5.100 4.000 5.451 1.312 -0.065 1.000 0.012 0.037 951 Peptidase_M17,_leucyl_aminopeptidase,_C-terminal . . . NPEPL1 178 0 259 36 0.122033898305085 TRUE TRUE ENSG00000100393.14 . BCM GRCh38.p13 chr22 41166634 41166634 + G G T Missense_Mutation SNP ENST00000263253.9 exon23 c.G3842T p.R1281L exonic ENSG00000100393.14 . nonsynonymous SNV ENSG00000100393.14:ENST00000263253.9:exon23:c.G3842T:p.R1281L 22q13.2 C3N-04282 . . . . . . . . . 11.20 T T D P N D N D D 0.318 T T D 0.494 0.462 0.805 . T D D T D D 3.828 26.000 0.996 D D 0.468 4.797 0.564 5.796 1.000 0.732 0.725 0.744 0.728 . 5.850 5.850 6.289 1.167 0.618 1.000 1.000 0.997 255 . . . ID=COSV99607677;OCCURENCE=1(urinary_tract) EP300 141 0 155 84 0.351464435146443 TRUE TRUE ENSG00000196576.15 . BCM GRCh38.p13 chr22 50286252 50286252 + G G A Nonsense_Mutation SNP ENST00000359337.9 exon9 c.C1798T p.R600X exonic ENSG00000196576.15 . stopgain ENSG00000196576.15:ENST00000359337.9:exon9:c.C1798T:p.R600X 22q13.33 C3N-04282 . . . . . . . . . 3.6 . . . . N A . . . 0.067 . . . . . . . . . D D . . 5.621 34 0.995 N N 0.076 2.792 -0.297 1.569 0.992 0.672 0.702 0.723 0.711 . 4.010 1.610 -0.472 -0.192 0.618 0.000 0.000 0.001 616 . . . ID=COSV63780558;OCCURENCE=1(oesophagus),1(large_intestine),1(upper_aerodigestive_tract) PLXNB2 205 0 181 114 0.386440677966102 TRUE TRUE ENSG00000101850.13 . BCM GRCh38.p13 chrX 9765805 9765805 + G G A Missense_Mutation SNP ENST00000467482.6 exon1 c.C13T p.R5C exonic ENSG00000101850.13 . nonsynonymous SNV ENSG00000101850.13:ENST00000467482.6:exon1:c.C13T:p.R5C Xp22.2 C3N-04282 . . . . . . . . rs62635289 19.19 D D D D D D M D D 0.726 D D D 0.925 0.874 0.995 0.320 D D D D D D 3.698 25.400 0.999 D . . . . . 1.000 . . . . . 4.350 3.370 2.578 0.940 0.658 0.999 0.996 0.950 974 . . . . GPR143 58 0 41 44 0.517647058823529 TRUE NA ENSG00000094631.21 . BCM GRCh38.p13 chrX 48824601 48824601 + C C T Missense_Mutation SNP ENST00000334136.11 exon29 c.C3637T p.H1213Y exonic ENSG00000094631.21 . nonsynonymous SNV ENSG00000094631.21:ENST00000334136.11:exon29:c.C3637T:p.H1213Y Xp11.23 C3N-04282 . . . . . . . . . 2.19 T T P B N N M T N 0.165 T T D 0.039 0.275 0.666 0.067 T T T T T T 0.663 8.110 0.994 N . . . . . 0.009 . . . . . 5.310 3.410 0.785 1.022 0.596 0.003 0.999 0.972 7 . . . . HDAC6 63 0 50 75 0.6 TRUE TRUE ENSG00000089820.16 . BCM GRCh38.p13 chrX 153921447 153921447 + G G A Missense_Mutation SNP ENST00000350060.10 exon3 c.C353T p.A118V exonic ENSG00000089820.16 . nonsynonymous SNV ENSG00000089820.16:ENST00000350060.10:exon3:c.C353T:p.A118V Xq28 C3N-04282 0 0 0 0 0 0 0 0 rs142621606 6.19 D D P P N N M T D 0.400 T T T 0.081 0.471 0.344 1.205 T T T T D D 2.098 20.000 0.998 N . . . . . 1.000 . . . . . 4.800 2.840 1.322 0.196 -0.157 0.188 0.617 0.690 180 FCH_domain;F-BAR_domain . . ID=COSV63131159;OCCURENCE=1(large_intestine) ARHGAP4 89 0 81 126 0.608695652173913 TRUE TRUE ENSG00000162722.9 . BCM GRCh38.p13 chr1 247864821 247864821 + G G A Silent SNP ENST00000366481.4 exon3 c.G633A p.T211T exonic ENSG00000162722.9 . synonymous SNV ENSG00000162722.9:ENST00000366481.4:exon3:c.G633A:p.T211T 1q44 C3N-04282 0.0005 0.0056 0.0003 0 0 3.179e-05 0 0 rs149673594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63570480;OCCURENCE=1(breast),1(large_intestine),1(endometrium) TRIM58 437 0 513 232 0.311409395973154 TRUE TRUE ENSG00000188219.14 . BCM GRCh38.p13 chr2 131264224 131264224 + C C T Silent SNP ENST00000356920.9 exon15 c.C2769T p.F923F exonic ENSG00000188219.14 . synonymous SNV ENSG00000188219.14:ENST00000356920.9:exon15:c.C2769T:p.F923F 2q21.1 C3N-04282 6.769e-05 0.0001 8.639e-05 0 0 9.257e-05 0 0 rs745389252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58228074;OCCURENCE=2(skin) POTEE 1817 0 2638 220 0.0769769069279216 NA TRUE ENSG00000178057.15 . BCM GRCh38.p13 chr3 49022976 49022976 + G G T Silent SNP ENST00000326925.11 exon4 c.G438T p.T146T exonic ENSG00000178057.15 . synonymous SNV ENSG00000178057.15:ENST00000326925.11:exon4:c.G438T:p.T146T 3p21.31 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDUFAF3 327 0 469 181 0.278461538461538 TRUE TRUE ENSG00000138777.20 . BCM GRCh38.p13 chr4 105473973 105473973 + G G C Silent SNP ENST00000341695.10 exon1 c.C78G p.T26T exonic ENSG00000138777.20 . synonymous SNV ENSG00000138777.20:ENST00000341695.10:exon1:c.C78G:p.T26T 4q24 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PPA2 172 0 253 41 0.139455782312925 TRUE TRUE ENSG00000164532.11 . BCM GRCh38.p13 chr7 35250100 35250100 + G G A Silent SNP ENST00000408931.4 exon2 c.C231T p.S77S exonic ENSG00000164532.11 . synonymous SNV ENSG00000164532.11:ENST00000408931.4:exon2:c.C231T:p.S77S 7p14.2 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBX20 227 0 346 126 0.266949152542373 TRUE TRUE ENSG00000065675.15 . BCM GRCh38.p13 chr10 6515070 6515070 + G G A Silent SNP ENST00000263125.10 exon2 c.C66T p.G22G exonic ENSG00000065675.15 . synonymous SNV ENSG00000065675.15:ENST00000263125.10:exon2:c.C66T:p.G22G 10p15.1 C3N-04282 1.649e-05 0 0 0 0 3.001e-05 0 0 rs762275564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRKCQ 184 0 284 119 0.295285359801489 TRUE NA ENSG00000068383.19 . BCM GRCh38.p13 chr10 132726839 132726839 + C C T Silent SNP ENST00000368594.8 exon9 c.C666T p.F222F exonic ENSG00000068383.19 . synonymous SNV ENSG00000068383.19:ENST00000368594.8:exon9:c.C666T:p.F222F 10q26.3 C3N-04282 0.0001 9.615e-05 0 0 0 0 0 0.0008 rs554890216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . INPP5A 40 0 51 22 0.301369863013699 TRUE NA ENSG00000188906.16 . BCM GRCh38.p13 chr12 40278168 40278168 + G G A Silent SNP ENST00000298910.12 exon18 c.G2148A p.A716A exonic ENSG00000188906.16 . synonymous SNV ENSG00000188906.16:ENST00000298910.12:exon18:c.G2148A:p.A716A 12q12 C3N-04282 3.295e-05 0 0 0 0 4.495e-05 0 6.056e-05 rs200459681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LRRK2 316 1 263 230 0.466531440162272 TRUE NA ENSG00000064300.9 . BCM GRCh38.p13 chr17 49506315 49506315 + C C T Silent SNP ENST00000172229.8 exon3 c.C225T p.D75D exonic ENSG00000064300.9 . synonymous SNV ENSG00000064300.9:ENST00000172229.8:exon3:c.C225T:p.D75D 17q21.33 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99412701;OCCURENCE=1(prostate) NGFR 100 0 120 40 0.25 TRUE NA ENSG00000181027.11 . BCM GRCh38.p13 chr19 46756725 46756725 + C C T Silent SNP ENST00000318584.10 exon4 c.C1275T p.G425G exonic ENSG00000181027.11 . synonymous SNV ENSG00000181027.11:ENST00000318584.10:exon4:c.C1275T:p.G425G 19q13.32 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FKRP 592 0 459 583 0.559500959692898 TRUE NA ENSG00000063245.15 . BCM GRCh38.p13 chr19 55691777 55691777 + C C T Silent SNP ENST00000270460.11 exon7 c.C786T p.D262D exonic ENSG00000063245.15 . synonymous SNV ENSG00000063245.15:ENST00000270460.11:exon7:c.C786T:p.D262D 19q13.42 C3N-04282 9.304e-05 0 0.0004 0 0 9.211e-05 0 0 rs373830625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . EPN1 110 0 113 88 0.437810945273632 TRUE NA ENSG00000118473.22 . BCM GRCh38.p13 chr1 66694467 66694467 + A A G Intron SNP NA NA NA NA intronic ENSG00000118473.22 . . . 1p31.3 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SGIP1 94 0 145 34 0.189944134078212 TRUE TRUE ENSG00000095951.17 . BCM GRCh38.p13 chr6 12020394 12020394 + G G A Intron SNP NA NA NA NA intronic ENSG00000095951.17 . . . 6p24.1 C3N-04282 . . . . . . . . . 1.11 D . . . . N . . N . T T . 0.178 0.381 0.043 . . . T T T T 0.100 2.091 0.593 N N -0.720 0.779 -0.961 0.539 1.000 0.676 0.573 0.564 0.714 . 2.710 -2.580 0.009 -1.125 -0.104 0.000 0.000 0.003 780 . . . . HIVEP1 226 0 208 123 0.371601208459215 TRUE TRUE ENSG00000199069.3 . BCM GRCh38.p13 chr14 101025781 101025781 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000199069.3 . . . 14q32.31 C3N-04282 1.654e-05 0 0 0 0 3.017e-05 0 0 rs762957686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MIR323A 193 1 267 117 0.3046875 TRUE NA ENSG00000229807.12 . BCM GRCh38.p13 chrX 73822783 73822783 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000229807.12;ENSG00000270641.1 . . . Xq13.2 C3N-04282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . XIST 48 0 44 54 0.551020408163265 TRUE NA ENSG00000162643.13 . BCM GRCh38.p13 chr1 85097586 85097586 + C C G Missense_Mutation SNP ENST00000294664.11 exon12 c.C1281G p.I427M exonic ENSG00000162643.13 . nonsynonymous SNV ENSG00000162643.13:ENST00000294664.11:exon12:c.C1281G:p.I427M 1p22.3 C3L-04072 . . . . . . . . . 9.20 D D D D D N M T D 0.854 T T D 0.284 0.377 0.545 0.753 T T T T D T 2.422 22.200 0.987 N N -0.079 2.242 -0.307 1.550 0.001 0.549 0.588 0.547 0.616 . 5.270 -3.890 0.117 -0.016 0.599 0.991 0.693 0.156 763 . . . . WDR63 121 0 180 10 0.0526315789473684 TRUE NA ENSG00000178104.19 . BCM GRCh38.p13 chr1 148981303 148981303 + G G - Frame_Shift_Del NA ENST00000369354.7 exon21 c.2721delG p.E908Kfs*10 exonic ENSG00000178104.19 . frameshift deletion ENSG00000178104.19:ENST00000369354.7:exon21:c.2721delG:p.E908Kfs*10 1q21.2 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PDE4DIP 279 0 326 105 0.243619489559165 NA TRUE ENSG00000135750.15 . BCM GRCh38.p13 chr1 233614296 233614296 + C C T Missense_Mutation SNP ENST00000366621.8 exon1 c.C125T p.S42F exonic ENSG00000135750.15 . nonsynonymous SNV ENSG00000135750.15:ENST00000366621.8:exon1:c.C125T:p.S42F 1q42.2 C3L-04072 . . . . . . . . . 16.20 D D D D D D M T D 0.872 T T D 0.416 0.525 0.583 1.226 D T D D D D 4.291 29.500 0.998 D D 0.656 6.548 0.540 5.545 1.000 0.442 0.522 0.522 0.555 . 4.020 4.020 7.344 0.941 0.535 1.000 0.967 0.963 945 . . . . KCNK1 463 0 864 51 0.0557377049180328 TRUE TRUE ENSG00000162992.3 . BCM GRCh38.p13 chr2 181678284 181678284 + G G A Missense_Mutation SNP ENST00000295108.3 exon2 c.C577T p.R193W exonic ENSG00000162992.3 . nonsynonymous SNV ENSG00000162992.3:ENST00000295108.3:exon2:c.C577T:p.R193W 2q31.3 C3L-04072 . . . . . . . . . 18.20 D D D D D D M T D 0.748 D D D 0.617 0.417 0.979 1.366 D D D D D D 4.304 29.600 0.999 N D 0.819 9.167 0.796 10.016 1.000 0.447 0.563 0.616 0.527 . 6.020 6.020 2.665 1.176 0.676 1.000 1.000 1.000 854 Neurogenic_differentiation_factor,_domain_of_unknown_function . . ID=COSV54551146;OCCURENCE=1(urinary_tract) NEUROD1 128 0 226 13 0.0543933054393305 TRUE TRUE ENSG00000153827.13 . BCM GRCh38.p13 chr2 229799354 229799354 + C C T Missense_Mutation SNP ENST00000283943.9 exon21 c.G3011A p.R1004Q exonic ENSG00000153827.13 . nonsynonymous SNV ENSG00000153827.13:ENST00000283943.9:exon21:c.G3011A:p.R1004Q 2q36.3 C3L-04072 . . . . . . . . . 10.19 D T D D D D N T N 0.720 T T D 0.238 0.157 0.481 1.163 T T D T D D 4.309 29.700 1.000 D . 0.707 7.219 0.738 8.535 1.000 0.707 0.725 0.725 0.714 . 5.520 5.520 7.448 1.026 0.549 1.000 1.000 0.998 907 . . . . TRIP12 320 0 458 72 0.135849056603774 TRUE NA ENSG00000154310.17 . BCM GRCh38.p13 chr3 171126028 171126028 + C C T Missense_Mutation SNP ENST00000436636.7 exon17 c.G1897A p.V633M exonic ENSG00000154310.17 . nonsynonymous SNV ENSG00000154310.17:ENST00000436636.7:exon17:c.G1897A:p.V633M 3q26.2 C3L-04072 1.66e-05 0 0 0 0 3.003e-05 0 0 rs780229852 4.20 T T D P N N N T N 0.194 T T D 0.149 0.068 0.261 0.664 T T T T T D 2.153 20.500 0.995 D N -0.108 2.148 -0.056 2.176 1.000 0.737 0.725 0.733 0.714 . 5.660 4.790 1.605 1.026 0.599 0.971 0.858 0.935 940 . . . . TNIK 156 0 239 82 0.255451713395639 TRUE NA ENSG00000163961.4 . BCM GRCh38.p13 chr3 196487504 196487504 + - NA GCTA Frame_Shift_Ins INS ENST00000318037.3 exon3 c.452_453insTAGC p.E152Sfs*25 exonic ENSG00000163961.4 . frameshift insertion ENSG00000163961.4:ENST00000318037.3:exon3:c.452_453insTAGC:p.E152Sfs*25 3q29 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF168 NA NA NA NA NA NA NA ENSG00000198189.11 . BCM GRCh38.p13 chr4 87390979 87390979 + C C G Missense_Mutation SNP ENST00000358290.9 exon1 c.G92C p.R31T exonic ENSG00000198189.11 . nonsynonymous SNV ENSG00000198189.11:ENST00000358290.9:exon1:c.G92C:p.R31T 4q22.1 C3L-04072 . . . . . . . . . 11.16 D D . . N D . D D 0.498 T D D 0.321 0.501 0.851 0.993 T . T T D D 3.231 23.900 0.980 D D 0.230 3.441 0.202 3.193 1.000 0.442 0.522 0.522 0.562 . 5.980 2.790 0.288 -0.238 0.599 0.361 0.997 0.995 600 . . . . HSD17B11 283 0 426 36 0.0779220779220779 TRUE TRUE ENSG00000213949.10 . BCM GRCh38.p13 chr5 52849472 52849472 + G G A Missense_Mutation SNP ENST00000282588.7 exon2 c.G169A p.E57K exonic ENSG00000213949.10 . nonsynonymous SNV ENSG00000213949.10:ENST00000282588.7:exon2:c.G169A:p.E57K 5q11.2 C3L-04072 8.298e-06 0 0 0 0 0 0 6.095e-05 rs567216405 6.20 T T P P D D M T N 0.484 T T T 0.220 0.523 0.789 0.197 T T T T D D 3.502 24.700 0.999 D N 0.461 4.744 0.552 5.668 1.000 0.615 0.588 0.659 0.575 . 5.820 5.820 5.615 1.176 0.671 1.000 0.998 0.995 823 . . . . ITGA1 72 0 114 39 0.254901960784314 TRUE NA ENSG00000113161.16 . BCM GRCh38.p13 chr5 75360109 75360109 + A A G Missense_Mutation SNP ENST00000287936.9 exon19 c.A2582G p.H861R exonic ENSG00000113161.16 . nonsynonymous SNV ENSG00000113161.16:ENST00000287936.9:exon19:c.A2582G:p.H861R 5q13.3 C3L-04072 . . . . . . . . . 18.20 D D D D D D M T D 0.787 D D D 0.521 0.690 0.761 1.203 T D D D D D 3.286 24.100 0.998 D D 0.668 6.698 0.693 7.618 1.000 0.707 0.702 0.702 0.714 . 5.700 5.700 9.272 1.312 0.756 1.000 0.999 0.976 900 Hydroxymethylglutaryl-CoA_reductase,_class_I/II,_conserved_site . . . HMGCR 269 1 382 104 0.213991769547325 TRUE TRUE ENSG00000169131.13 . BCM GRCh38.p13 chr5 178713447 178713447 + A A T Missense_Mutation SNP ENST00000335815.7 exon5 c.T431A p.I144K exonic ENSG00000169131.13 . nonsynonymous SNV ENSG00000169131.13:ENST00000335815.7:exon5:c.T431A:p.I144K 5q35.3 C3L-04072 . . . . . . . . . 0.20 T T B B N N L T N 0.135 T T T 0.046 0.480 0.099 0.365 T T T T T T -0.028 1.171 0.367 N N -1.327 0.151 -1.316 0.199 0.010 0.651 0.670 0.651 0.636 . 4.430 -0.930 -1.236 0.114 0.751 0.000 0.038 0.278 969 . . . . ZNF354A 187 0 325 85 0.207317073170732 TRUE TRUE ENSG00000170927.15 . BCM GRCh38.p13 chr6 51627053 51627053 + G G A Missense_Mutation SNP ENST00000371117.8 exon66 c.C11729T p.S3910L exonic ENSG00000170927.15 . nonsynonymous SNV ENSG00000170927.15:ENST00000371117.8:exon66:c.C11729T:p.S3910L 6p12.3 C3L-04072 . . . . . . . . . 4.20 D D B B N N L D N 0.165 T T D 0.145 0.259 0.944 0.056 T T T T T T 1.310 14.460 0.986 N N -0.526 1.127 -0.480 1.235 0.000 0.487 0.574 0.574 0.564 . 5.000 4.120 2.114 1.176 0.676 0.075 0.068 0.022 673 . . . . PKHD1 382 0 531 38 0.0667838312829526 TRUE TRUE ENSG00000118412.12 . BCM GRCh38.p13 chr6 89868743 89868743 + C C T Missense_Mutation SNP ENST00000551025.3 exon8 c.C5453T p.S1818L exonic ENSG00000118412.12 . nonsynonymous SNV ENSG00000118412.12:ENST00000551025.3:exon8:c.C5453T:p.S1818L 6q15 C3L-04072 . . . . . . . . . 0.7 . T . . . . . . . . . . . . . 0.496 . T T T T . T 0.887 10.300 0.645 N . . . . . 0.175 0.295 0.157 0.343 0.221 0.101 5.770 3.760 0.368 1.026 0.599 0.000 0.329 0.095 573 . . . . CASP8AP2 146 0 242 74 0.234177215189873 TRUE TRUE ENSG00000118412.12 . BCM GRCh38.p13 chr6 89868800 89868800 + G G A Missense_Mutation SNP ENST00000551025.3 exon8 c.G5510A p.R1837K exonic ENSG00000118412.12 . nonsynonymous SNV ENSG00000118412.12:ENST00000551025.3:exon8:c.G5510A:p.R1837K 6q15 C3L-04072 . . . . . . . . . 0.7 . T . . . . . . . . . . . . . 0.637 . T T T T . T 0.863 10.050 0.499 N . . . . . 0.009 0.322 0.319 0.343 0.323 0.131 5.770 3.260 0.299 0.281 -0.102 0.993 0.958 0.734 573 . . . . CASP8AP2 188 0 281 79 0.219444444444444 TRUE TRUE ENSG00000006715.16 . BCM GRCh38.p13 chr7 38772631 38772631 + G G A Missense_Mutation SNP ENST00000310301.9 exon13 c.C1019T p.S340F exonic ENSG00000006715.16 . nonsynonymous SNV ENSG00000006715.16:ENST00000310301.9:exon13:c.C1019T:p.S340F 7p14.1 C3L-04072 . . . . . . . . . 8.20 T T D P D D L T N 0.791 T T T 0.214 0.381 0.610 0.381 T T D T D D 3.710 25.400 0.996 D D 0.399 4.339 0.401 4.367 1.000 0.707 0.725 0.659 0.714 . 6.060 6.060 9.813 1.083 0.676 1.000 0.899 0.888 749 . . . . VPS41 106 0 215 22 0.0928270042194093 TRUE TRUE ENSG00000164659.15 . BCM GRCh38.p13 chr7 86913095 86913095 + G G A Missense_Mutation SNP ENST00000450689.7 exon14 c.C1841T p.S614L exonic ENSG00000164659.15 . nonsynonymous SNV ENSG00000164659.15:ENST00000450689.7:exon14:c.C1841T:p.S614L 7q21.12 C3L-04072 0.0003 0.0029 8.67e-05 0 0 0.0001 0 0 rs146838031 4.20 T T B B D D N T N 0.296 T T T 0.044 . 0.273 0.197 T T T T T T 1.971 19.040 0.829 D D -0.328 1.547 -0.125 1.978 0.954 0.706 0.710 0.710 0.714 . 5.820 4.020 3.262 1.176 0.676 1.000 1.000 0.996 587 . . . . KIAA1324L 362 0 506 148 0.226299694189602 TRUE NA ENSG00000188037.12 . BCM GRCh38.p13 chr7 143323327 143323327 + G G A Missense_Mutation SNP ENST00000343257.7 exon6 c.G715A p.A239T exonic ENSG00000188037.12 . nonsynonymous SNV ENSG00000188037.12:ENST00000343257.7:exon6:c.G715A:p.A239T 7q34 C3L-04072 . . . . . . . . . 19.20 D D D D D D M D D 0.968 D D D 0.919 0.814 0.977 0.712 T D D D D D 4.468 32 0.999 D D 0.880 10.536 0.801 10.142 1.000 0.428 0.547 0.547 0.613 . 4.270 4.270 10.003 1.172 0.672 1.000 0.999 0.997 . . . . . CLCN1 233 0 362 92 0.202643171806167 TRUE TRUE ENSG00000104765.16 . BCM GRCh38.p13 chr8 26383206 26383206 + C C G Missense_Mutation SNP ENST00000380629.7 exon1 c.C76G p.L26V exonic ENSG00000104765.16 . nonsynonymous SNV ENSG00000104765.16:ENST00000380629.7:exon1:c.C76G:p.L26V 8p21.2 C3L-04072 . . . . . . . . rs950774191 3.19 D T P P N N L . N 0.079 T T D 0.118 0.294 0.095 0.269 T T T T D T 0.975 11.310 0.925 N N -0.821 0.625 -1.086 0.390 1.000 0.442 0.522 0.522 0.562 . 5.100 -5.690 -0.468 -0.416 -0.270 0.003 0.166 0.010 749 . . . . BNIP3L 341 0 418 71 0.14519427402863 TRUE NA ENSG00000213930.12 . BCM GRCh38.p13 chr9 34647172 34647172 + C C G Missense_Mutation SNP ENST00000378842.8 exon2 c.C166G p.Q56E exonic ENSG00000213930.12;ENSG00000258728.1 . nonsynonymous SNV ENSG00000213930.12:ENST00000378842.8:exon2:c.C166G:p.Q56E,ENSG00000258728.1:ENST00000556278.1:exon2:c.C166G:p.Q56E 9p13.3 C3L-04072 . . . . . . . . . 16.20 D D D P U D M D N 0.562 D D D 0.788 0.422 0.993 1.672 T D D D D D 3.780 25.700 0.994 D D 0.924 11.695 0.880 12.926 1.000 0.442 0.522 0.522 0.562 . 5.770 5.770 7.279 1.026 0.599 1.000 0.997 0.996 327 Galactose-1-phosphate_uridyl_transferase,_N-terminal . . . GALT 412 2 556 48 0.0794701986754967 TRUE TRUE ENSG00000213930.12 . BCM GRCh38.p13 chr9 34647243 34647243 + C C G Missense_Mutation SNP ENST00000378842.8 exon2 c.C237G p.I79M exonic ENSG00000213930.12;ENSG00000258728.1 . nonsynonymous SNV ENSG00000213930.12:ENST00000378842.8:exon2:c.C237G:p.I79M,ENSG00000258728.1:ENST00000556278.1:exon2:c.C237G:p.I79M 9p13.3 C3L-04072 . . . . . . . . . 10.19 D D B B U N . D N 0.172 D D D 0.540 0.375 0.883 0.943 T D D D T D 1.576 16.220 0.942 N N -0.815 0.633 -1.106 0.369 1.000 0.628 0.522 0.686 0.658 . 5.530 -11.100 -0.903 -0.105 -0.975 0.000 0.969 0.813 327 Galactose-1-phosphate_uridyl_transferase,_N-terminal . . . GALT 290 0 360 32 0.0816326530612245 TRUE TRUE ENSG00000130559.19 . BCM GRCh38.p13 chr9 135822260 135822260 + G G C Missense_Mutation SNP ENST00000389532.9 exon11 c.C2401G p.Q801E exonic ENSG00000130559.19 . nonsynonymous SNV ENSG00000130559.19:ENST00000389532.9:exon11:c.C2401G:p.Q801E 9q34.3 C3L-04072 1.648e-05 0 8.637e-05 0.0001 0 0 0 0 rs749774202 13.20 D D D D D D L T N 0.699 D D D 0.290 0.137 0.557 0.619 T T T T D D 3.255 24.000 0.995 D D 0.622 6.156 0.497 5.136 1.000 0.707 0.725 0.725 0.714 . 5.140 5.140 9.459 1.176 0.676 1.000 0.291 0.077 627 . . . ID=COSV56719156;OCCURENCE=1(oesophagus),1(lung) CAMSAP1 170 0 286 86 0.231182795698925 TRUE TRUE ENSG00000172987.13 . BCM GRCh38.p13 chr10 99232465 99232465 + C C T Missense_Mutation SNP ENST00000370552.8 exon2 c.G331A p.A111T exonic ENSG00000172987.13 . nonsynonymous SNV ENSG00000172987.13:ENST00000370552.8:exon2:c.G331A:p.A111T 10q24.2 C3L-04072 . . . . . . . . . 16.20 D D D D D D M T D 0.812 T T D 0.414 0.821 0.030 0.241 T D D D D D 3.471 24.600 0.999 D D 0.572 5.654 0.600 6.220 1.000 0.623 0.563 0.378 0.530 . 5.270 5.270 6.894 1.026 0.599 1.000 1.000 0.984 385 . . . . HPSE2 329 0 487 150 0.235478806907378 TRUE TRUE ENSG00000197142.10 . BCM GRCh38.p13 chr10 112408432 112408432 + C C T Missense_Mutation SNP ENST00000393081.5 exon6 c.C443T p.S148F exonic ENSG00000197142.10 . nonsynonymous SNV ENSG00000197142.10:ENST00000393081.5:exon6:c.C443T:p.S148F 10q25.2 C3L-04072 . . . . . . . . . 9.20 T T B B D D M T D 0.810 T T D 0.231 0.681 0.788 0.357 T T T T D D 2.380 22.000 0.925 D D 0.321 3.889 0.445 4.690 1.000 0.707 0.725 0.547 0.586 . 5.920 5.920 6.323 1.010 0.589 1.000 0.932 0.917 821 AMP-dependent_synthetase/ligase . . . ACSL5 74 0 127 24 0.158940397350993 TRUE TRUE ENSG00000148773.14 . BCM GRCh38.p13 chr10 128108980 128108980 + A A T Missense_Mutation SNP ENST00000368654.8 exon13 c.T2860A p.W954R exonic ENSG00000148773.14 . nonsynonymous SNV ENSG00000148773.14:ENST00000368654.8:exon13:c.T2860A:p.W954R 10q26.2 C3L-04072 . . . . . . . . . 0.20 T T B B N N N T N 0.173 T T T 0.019 0.267 0.154 0.112 T T T T T T 0.669 8.170 0.649 N N -1.155 0.261 -1.193 0.288 0.987 0.707 0.702 0.725 0.714 . 3.440 -0.129 0.552 0.150 0.756 0.000 0.003 0.050 963 . . . . MKI67 463 0 698 200 0.22271714922049 TRUE TRUE ENSG00000165490.13 . BCM GRCh38.p13 chr11 82934133 82934133 + A A C Missense_Mutation SNP ENST00000533655.6 exon6 c.A2795C p.K932T exonic ENSG00000165490.13 . nonsynonymous SNV ENSG00000165490.13:ENST00000533655.6:exon6:c.A2795C:p.K932T 11q14.1 C3L-04072 . . . . . . . . . 1.18 D T B B N N . T N 0.125 T T T 0.065 0.316 0.145 0.037 . T T T T T 1.331 14.610 0.825 N N -0.617 0.957 -0.487 1.224 0.725 0.651 0.546 0.651 0.655 . 5.830 4.640 0.813 0.162 0.756 0.019 0.021 0.084 514 . . . . DDIAS 101 0 169 38 0.183574879227053 TRUE TRUE ENSG00000002016.18 . BCM GRCh38.p13 chr12 930102 930102 + C C T Missense_Mutation SNP ENST00000358495.8 exon4 c.G229A p.E77K exonic ENSG00000002016.18 . nonsynonymous SNV ENSG00000002016.18:ENST00000358495.8:exon4:c.G229A:p.E77K 12p13.33 C3L-04072 . . . . . . . . . 15.20 D D D D D D M T D 0.934 T T D 0.490 0.832 0.865 0.574 T T D D D D 4.164 28.300 0.999 D D 0.569 5.619 0.522 5.364 0.998 0.563 0.654 0.609 0.636 . 4.890 3.990 7.811 1.026 0.549 1.000 1.000 0.996 484 . . . . RAD52 138 0 389 77 0.165236051502146 TRUE TRUE ENSG00000213809.9 . BCM GRCh38.p13 chr12 10378595 10378595 + G G A Nonsense_Mutation SNP ENST00000240618.11 exon6 c.C388T p.Q130X exonic ENSG00000213809.9 . stopgain ENSG00000213809.9:ENST00000240618.11:exon6:c.C388T:p.Q130X 12p13.2 C3L-04072 . . . . . . . . . 3.6 . . . . N A . . . 0.929 . . . . . . . . . D D . . 7.508 38 0.993 N N 0.520 5.193 0.261 3.496 0.075 0.554 0.588 0.547 0.528 . 5.960 3.110 3.173 1.155 0.618 0.998 0.998 0.995 861 . . . ID=COSV99555187;OCCURENCE=1(skin) KLRK1 159 0 461 27 0.055327868852459 TRUE TRUE ENSG00000121361.5 . BCM GRCh38.p13 chr12 21765872 21765872 + G G T Missense_Mutation SNP ENST00000240662.3 exon3 c.C1126A p.H376N exonic ENSG00000121361.5 . nonsynonymous SNV ENSG00000121361.5:ENST00000240662.3:exon3:c.C1126A:p.H376N 12p12.1 C3L-04072 . . . . . . . . . 14.20 T T D P D D L D N 0.652 D D D 0.427 0.370 0.923 2.308 D T D D D D 3.079 23.600 0.990 D D 0.498 5.021 0.599 6.212 1.000 0.487 0.574 0.574 0.542 . 5.600 5.600 7.615 1.157 0.654 1.000 0.951 0.994 746 . . . . KCNJ8 300 0 718 117 0.140119760479042 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C T Missense_Mutation SNP ENST00000256078.10 exon2 c.G35A p.G12D exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35A:p.G12D 12p12.1 C3L-04072 1.976e-05 0.0001 0 0 0 1.873e-05 0 0 rs121913529 16.20 D D P B D D M T D 0.915 D D D 0.875 0.772 0.957 2.257 D D D D D T 3.144 23.700 0.998 D D 0.606 5.981 0.660 7.073 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497369;OCCURENCE=1(salivary_gland),30(breast),3(penis),22(liver),95(peritoneum),3(genital_tract),18(oesophagus),50(cervix),8956(large_intestine),11(central_nervous_system),453(biliary_tract),1(pleura),345(ovary),2(bone),24(NS),265(haematopoietic_and_lymphoid_tissue),130(stomach),12(kidney),30(soft_tissue),41(urinary_tract),3242(pancreas),20(gastrointestinal_tract_(site_indeterminate)),42(skin),25(prostate),1366(lung),40(thyroid),37(upper_aerodigestive_tract),7(testis),3(eye),103(small_intestine),254(endometrium) KRAS 274 0 427 357 0.455357142857143 TRUE TRUE ENSG00000123342.16 . BCM GRCh38.p13 chr12 55837632 55837632 + - NA G Frame_Shift_Ins INS ENST00000322569.9 exon8 c.1110dupC p.K371Qfs*5 exonic ENSG00000123342.16 . frameshift insertion ENSG00000123342.16:ENST00000322569.9:exon8:c.1110dupC:p.K371Qfs*5 12q13.2 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MMP19 NA NA NA NA NA NA NA ENSG00000133116.8 . BCM GRCh38.p13 chr13 33063878 33063878 + G G A Missense_Mutation SNP ENST00000380099.4 exon5 c.G2731A p.G911R exonic ENSG00000133116.8 . nonsynonymous SNV ENSG00000133116.8:ENST00000380099.4:exon5:c.G2731A:p.G911R 13q13.1 C3L-04072 8.237e-06 0 0 0 0 1.499e-05 0 0 rs777451765 17.20 D D D D D D H T D 0.900 D D D 0.835 0.774 0.944 0.630 T T D D D D 4.416 31 0.999 D D 0.914 11.428 0.789 9.816 1.000 0.554 0.588 0.547 0.613 . 5.330 5.330 9.889 1.172 0.676 1.000 0.982 0.448 542 . . . ID=COSV66310398;OCCURENCE=1(large_intestine) KL 270 2 365 88 0.194260485651214 TRUE TRUE ENSG00000054654.18 . BCM GRCh38.p13 chr14 64152690 64152690 + C C T Nonsense_Mutation SNP ENST00000344113.8 exon85 c.C15766T p.Q5256X exonic ENSG00000054654.18 . stopgain ENSG00000054654.18:ENST00000344113.8:exon85:c.C15766T:p.Q5256X 14q23.2 C3L-04072 . . . . . . . . . 4.6 . . . . N A . . . 0.910 . . . . . . . . . D D . . 9.021 47 0.998 D N 0.623 6.161 0.368 4.137 0.420 0.707 0.725 0.725 0.714 . 5.940 5.040 1.876 1.026 0.599 0.962 0.980 0.652 544 . . . . SYNE2 216 0 357 31 0.0798969072164948 TRUE TRUE ENSG00000103932.12 . BCM GRCh38.p13 chr15 41527053 41527053 + G G A Missense_Mutation SNP ENST00000304330.9 exon14 c.C1762T p.R588W exonic ENSG00000103932.12 . nonsynonymous SNV ENSG00000103932.12:ENST00000304330.9:exon14:c.C1762T:p.R588W 15q15.1 C3L-04072 . . . . . . . . . 10.20 D D P B N D M T D 0.582 T T D 0.464 0.502 0.890 0.220 T T T T D D 3.413 24.400 0.997 D D 0.121 2.968 0.133 2.876 0.054 0.707 0.725 0.725 0.714 . 5.100 1.900 4.527 1.164 0.662 1.000 0.990 0.910 199 . . . ID=COSV58538487;OCCURENCE=1(cervix) RPAP1 95 0 151 37 0.196808510638298 TRUE TRUE ENSG00000104177.18 . BCM GRCh38.p13 chr15 48178197 48178197 + C C G Missense_Mutation SNP ENST00000324324.12 exon1 c.G41C p.G14A exonic ENSG00000104177.18 . nonsynonymous SNV ENSG00000104177.18:ENST00000324324.12:exon1:c.G41C:p.G14A 15q21.1 C3L-04072 . . . . . . . . . 5.17 D D . . N D . T N 0.195 T T D 0.146 0.110 0.349 0.431 T T T T D T 2.043 19.580 0.988 N N 0.204 3.320 0.121 2.820 1.000 0.442 0.484 0.522 0.373 . 4.170 4.170 1.768 0.933 0.576 0.005 0.216 0.587 798 . . . . MYEF2 290 0 357 94 0.208425720620843 TRUE TRUE ENSG00000073417.15 . BCM GRCh38.p13 chr15 85113930 85113930 + C C G Missense_Mutation SNP ENST00000394553.6 exon14 c.C1243G p.L415V exonic ENSG00000073417.15 . nonsynonymous SNV ENSG00000073417.15:ENST00000394553.6:exon14:c.C1243G:p.L415V 15q25.3 C3L-04072 . . . . . . . . . 12.20 D D D D D D M T N 0.725 T T D 0.435 0.416 0.416 0.743 T T T T D D 2.686 22.800 0.994 D D 0.109 2.920 -0.006 2.339 0.982 0.707 0.725 0.659 0.714 . 5.230 0.407 2.413 -0.262 -0.773 1.000 0.992 0.958 572 . . . . PDE8A 179 0 272 68 0.2 TRUE NA ENSG00000178952.11 . BCM GRCh38.p13 chr16 28845966 28845966 + T T C Missense_Mutation SNP ENST00000313511.8 exon2 c.A193G p.T65A exonic ENSG00000178952.11 . nonsynonymous SNV ENSG00000178952.11:ENST00000313511.8:exon2:c.A193G:p.T65A 16p11.2 C3L-04072 . . . . . . . . . 14.16 D D . . D D . T D 0.908 D D D 0.777 . 0.867 1.603 T . D D D D 4.349 30 0.998 D D 0.986 13.503 0.909 14.123 1.000 0.442 0.522 0.522 0.562 . 6.000 6.000 6.702 1.138 0.665 1.000 0.998 0.995 285 . . . . TUFM 608 0 819 226 0.216267942583732 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674859 7674859 + C C G Missense_Mutation SNP ENST00000269305.8 exon6 c.G672C p.E224D exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon6:c.G672C:p.E224D 17p13.1 C3L-04072 . . . . . . . . . 15.20 D D B B D D M D N 0.501 D D D 0.697 0.546 0.946 0.651 T D D D D T 5.210 33 0.995 D D 0.062 2.739 0.195 3.158 0.999 0.732 0.698 0.744 0.735 . 5.280 4.310 6.162 1.026 0.599 1.000 0.998 0.992 433 p53,_DNA-binding_domain . . ID=COSV52721244;OCCURENCE=4(breast),2(large_intestine),1(central_nervous_system),1(bone),1(haematopoietic_and_lymphoid_tissue),1(stomach),1(urinary_tract),5(lung) TP53 313 0 351 129 0.26875 TRUE TRUE ENSG00000108375.12 . BCM GRCh38.p13 chr17 58415447 58415447 + - NA G Frame_Shift_Ins INS ENST00000584437.5 exon1 c.130dupC p.Q44Pfs*31 exonic ENSG00000108375.12;ENSG00000285897.1 . frameshift insertion ENSG00000108375.12:ENST00000584437.5:exon1:c.130dupC:p.Q44Pfs*31,ENSG00000285897.1:ENST00000648873.1:exon1:c.130dupC:p.Q44Pfs*31 17q22 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF43 NA NA NA NA NA NA NA ENSG00000099817.12 . BCM GRCh38.p13 chr19 1095291 1095291 + G G C Missense_Mutation SNP ENST00000615234.5 exon1 c.C25G p.R9G exonic ENSG00000099817.12 . nonsynonymous SNV ENSG00000099817.12:ENST00000615234.5:exon1:c.C25G:p.R9G 19p13.3 C3L-04072 . . . . . . . . . 12.18 . D D D D D M T . 0.870 T T D 0.635 0.884 0.740 . D T D D D D 4.892 33 0.998 N N 0.617 6.099 0.540 5.548 1.000 0.726 0.522 0.594 0.562 . 5.150 4.100 3.398 1.078 0.672 1.000 1.000 0.998 988 RNA_polymerase,_Rpb5,_N-terminal . . ID=COSV53124052;OCCURENCE=1(pancreas) POLR2E 245 1 289 77 0.210382513661202 TRUE TRUE ENSG00000088247.17 . BCM GRCh38.p13 chr19 6416404 6416404 + G G C Missense_Mutation SNP ENST00000398148.7 exon15 c.C1492G p.P498A exonic ENSG00000088247.17 . nonsynonymous SNV ENSG00000088247.17:ENST00000398148.7:exon15:c.C1492G:p.P498A 19p13.3 C3L-04072 . . . . . . . . . 11.20 T D D D D D M T D 0.612 T T D 0.328 0.301 0.519 2.031 T T T T D T 3.250 24.000 0.918 D D 0.776 8.322 0.783 9.639 1.000 0.707 0.698 0.702 0.714 . 5.410 5.410 7.059 1.176 0.676 1.000 0.998 0.990 795 . . . . KHSRP 339 0 367 70 0.160183066361556 TRUE TRUE ENSG00000172519.9 . BCM GRCh38.p13 chr19 15794547 15794547 + G G A Missense_Mutation SNP ENST00000642092.1 exon2 c.G499A p.A167T exonic ENSG00000172519.9 . nonsynonymous SNV ENSG00000172519.9:ENST00000642092.1:exon2:c.G499A:p.A167T 19p13.12 C3L-04072 0.0005 0 0.0002 0.0001 0 0.0003 0.0011 0.0024 rs201858159 0.20 T T B B N N N T N 0.038 T T T 0.010 . 0.040 0.273 T T T T T T 0.047 1.656 0.708 N N -1.805 0.023 -1.770 0.038 0.000 0.487 0.574 0.574 0.564 . 3.360 -0.366 -1.428 -0.933 -0.742 0.000 0.000 0.000 976 GPCR,_rhodopsin-like,_7TM . . ID=COSV58277840;OCCURENCE=1(large_intestine) OR10H5 314 0 429 96 0.182857142857143 NA TRUE ENSG00000088876.13 . BCM GRCh38.p13 chr20 2483750 2483750 + G G C Nonsense_Mutation SNP ENST00000278772.9 exon6 c.C1211G p.S404X exonic ENSG00000088876.13 . stopgain ENSG00000088876.13:ENST00000278772.9:exon6:c.C1211G:p.S404X 20p13 C3L-04072 . . . . . . . . . 4.5 . . . . . D . . . 0.072 . . . . . . . . . D D . . 5.396 34 0.992 D N 0.458 4.729 0.124 2.837 0.001 0.615 0.654 0.659 0.636 . 2.830 0.629 3.185 -0.016 -0.191 0.605 0.006 0.035 900 Zinc_finger_C2H2-type . . . ZNF343 252 1 200 101 0.335548172757475 TRUE TRUE ENSG00000125817.8 . BCM GRCh38.p13 chr20 3786402 3786402 + T T A Nonsense_Mutation SNP ENST00000379751.5 exon1 c.A82T p.K28X exonic ENSG00000125817.8 . stopgain ENSG00000125817.8:ENST00000379751.5:exon1:c.A82T:p.K28X 20p13 C3L-04072 . . . . . . . . . 4.6 . . . . U D . . . 0.688 . . . . . . . . . D D . . 6.916 36 0.994 D N 0.494 4.986 0.287 3.639 1.000 0.726 0.522 0.594 0.273 . 2.900 2.900 0.785 0.931 0.438 0.871 1.000 0.996 809 DNA_binding_HTH_domain,_Psq-type . . . CENPB 288 0 291 143 0.329493087557604 TRUE TRUE ENSG00000173198.6 . BCM GRCh38.p13 chrX 78272750 78272750 + C C A Nonsense_Mutation SNP ENST00000373304.4 exon3 c.G997T p.E333X exonic ENSG00000173198.6 . stopgain ENSG00000173198.6:ENST00000373304.4:exon3:c.G997T:p.E333X Xq21.1 C3L-04072 . . . . . . . . . 2.5 . . . . N N . . . 0.552 . . . . . . . . . D D . . 6.187 35 0.993 N . . . . . 0.045 . . . . . 4.300 4.300 1.649 1.026 0.549 0.254 0.972 0.767 388 . . . . CYSLTR1 23 0 31 10 0.24390243902439 TRUE TRUE ENSG00000136040.9 . BCM GRCh38.p13 chr12 94297221 94297221 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000136040.9 ENST00000258526.9:exon25:c.3966+1G>T . . 12q22 C3L-04072 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.876 35 0.994 D . 0.994 13.721 0.814 10.562 1.000 0.156 0.156 0.084 0.093 0.978 4.730 3.810 4.891 1.176 0.676 1.000 1.000 0.894 969 . . . . PLXNC1 226 0 286 100 0.259067357512953 TRUE TRUE ENSG00000185278.15 . BCM GRCh38.p13 chr1 173870276 173870276 + T T A Silent SNP ENST00000367701.9 exon2 c.T51A p.S17S exonic ENSG00000185278.15 . synonymous SNV ENSG00000185278.15:ENST00000367701.9:exon2:c.T51A:p.S17S 1q25.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZBTB37 134 0 180 64 0.262295081967213 TRUE TRUE ENSG00000115705.22 . BCM GRCh38.p13 chr2 1484763 1484763 + G G A Silent SNP ENST00000329066.9 exon9 c.G1506A p.R502R exonic ENSG00000115705.22 . synonymous SNV ENSG00000115705.22:ENST00000329066.9:exon9:c.G1506A:p.R502R 2p25.3 C3L-04072 5.793e-05 0 8.661e-05 0 0 9.05e-05 0 0 rs773237793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TPO 301 0 412 127 0.235621521335807 TRUE NA ENSG00000163961.4 . BCM GRCh38.p13 chr3 196487507 196487507 + C C T Silent SNP ENST00000318037.3 exon3 c.G450A p.L150L exonic ENSG00000163961.4 . synonymous SNV ENSG00000163961.4:ENST00000318037.3:exon3:c.G450A:p.L150L 3q29 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RNF168 414 0 711 133 0.157582938388626 TRUE NA ENSG00000147570.10 . BCM GRCh38.p13 chr8 66076813 66076813 + C C T Silent SNP ENST00000276570.10 exon4 c.C273T p.A91A exonic ENSG00000147570.10 . synonymous SNV ENSG00000147570.10:ENST00000276570.10:exon4:c.C273T:p.A91A 8q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAJC5B 395 1 491 81 0.141608391608392 TRUE TRUE ENSG00000148680.16 . BCM GRCh38.p13 chr10 90857288 90857288 + G G C Silent SNP ENST00000336152.8 exon1 c.C384G p.L128L exonic ENSG00000148680.16 . synonymous SNV ENSG00000148680.16:ENST00000336152.8:exon1:c.C384G:p.L128L 10q23.31 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HTR7 248 0 460 35 0.0707070707070707 TRUE TRUE ENSG00000183269.5 . BCM GRCh38.p13 chr11 5857235 5857235 + C C G Silent SNP ENST00000537935.1 exon1 c.G468C p.L156L exonic ENSG00000183269.5 . synonymous SNV ENSG00000183269.5:ENST00000537935.1:exon1:c.G468C:p.L156L 11p15.4 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR52E8 89 0 114 70 0.380434782608696 TRUE TRUE ENSG00000132275.11 . BCM GRCh38.p13 chr11 6600245 6600245 + G G A Silent SNP ENST00000254605.11 exon7 c.C1272T p.F424F exonic ENSG00000132275.11 . synonymous SNV ENSG00000132275.11:ENST00000254605.11:exon7:c.C1272T:p.F424F 11p15.4 C3L-04072 8.531e-06 9.764e-05 0 0 0 0 0 0 rs144962503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RRP8 48 0 48 12 0.2 TRUE NA ENSG00000184271.17 . BCM GRCh38.p13 chr12 51190589 51190589 + G G A Silent SNP ENST00000333640.11 exon11 c.C1494T p.F498F exonic ENSG00000184271.17 . synonymous SNV ENSG00000184271.17:ENST00000333640.11:exon11:c.C1494T:p.F498F 12q13.13 C3L-04072 1.673e-05 0 0 0 0 0 0 0.0001 rs750339632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV104659560;OCCURENCE=1(skin) POU6F1 106 0 203 12 0.0558139534883721 TRUE NA ENSG00000185567.7 . BCM GRCh38.p13 chr14 104950183 104950183 + G G C Silent SNP ENST00000333244.6 exon7 c.C5268G p.L1756L exonic ENSG00000185567.7 . synonymous SNV ENSG00000185567.7:ENST00000333244.6:exon7:c.C5268G:p.L1756L 14q32.33 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AHNAK2 580 0 896 67 0.0695742471443406 NA TRUE ENSG00000259288.7 . BCM GRCh38.p13 chr15 40240681 40240681 + G G A Unknown SNP NA NA NA NA exonic ENSG00000259288.7 . unknown UNKNOWN 15q15.1 C3L-04072 . . . . . . . . rs566666956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BUB1B-PAK6 122 0 204 51 0.2 TRUE NA ENSG00000167984.18 . BCM GRCh38.p13 chr16 3564598 3564598 + G G A Silent SNP ENST00000359128.10 exon5 c.C339T p.R113R exonic ENSG00000167984.18 . synonymous SNV ENSG00000167984.18:ENST00000359128.10:exon5:c.C339T:p.R113R 16p13.3 C3L-04072 2.69e-05 0.0001 0 0.0001 0 1.651e-05 0 0 rs373142707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100072814;OCCURENCE=1(soft_tissue) NLRC3 222 0 247 98 0.284057971014493 TRUE NA ENSG00000198900.6 . BCM GRCh38.p13 chr20 41115436 41115436 + C C T Silent SNP ENST00000361337.3 exon16 c.C1704T p.L568L exonic ENSG00000198900.6 . synonymous SNV ENSG00000198900.6:ENST00000361337.3:exon16:c.C1704T:p.L568L 20q12 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TOP1 103 0 218 13 0.0562770562770563 TRUE TRUE ENSG00000156253.7 . BCM GRCh38.p13 chr21 29007988 29007988 + G G A Silent SNP ENST00000493196.2 exon4 c.C498T p.V166V exonic ENSG00000156253.7 . synonymous SNV ENSG00000156253.7:ENST00000493196.2:exon4:c.C498T:p.V166V 21q21.3 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RWDD2B 252 0 355 23 0.0608465608465608 TRUE TRUE ENSG00000115956.10 . BCM GRCh38.p13 chr2 68395818 68395818 + G G A 3'UTR SNP NA NA NA NA UTR3 ENSG00000115956.10 ENST00000234313.8:c.*2G>A . . 2p14 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PLEK 181 0 264 23 0.0801393728222996 TRUE NA ENSG00000270117.1 . BCM GRCh38.p13 chr11 65498368 65498368 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000270117.1 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AP000769.2 107 0 178 36 0.168224299065421 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499079 65499079 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . rs773811321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 151 0 211 44 0.172549019607843 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499309 65499309 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 180 0 300 62 0.171270718232044 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499509 65499509 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 108 0 217 46 0.174904942965779 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499606 65499606 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 122 0 212 42 0.165354330708661 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499691 65499691 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . rs187715624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 73 0 157 33 0.173684210526316 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65499943 65499943 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . rs899566078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 89 0 149 27 0.153409090909091 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65500073 65500073 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 141 0 237 41 0.147482014388489 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65500950 65500950 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 153 0 246 52 0.174496644295302 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65501795 65501795 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 128 0 237 44 0.156583629893238 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65502603 65502603 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 42 1 65 14 0.177215189873418 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65502918 65502918 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8;ENSG00000278217.1 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 103 0 175 41 0.189814814814815 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65503064 65503064 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 0.0001 0 0.0002 0.0010 0 2.785e-05 0 0 rs755452277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 80 0 127 25 0.164473684210526 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65503781 65503781 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 59 0 98 11 0.100917431192661 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65503784 65503784 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 59 0 98 11 0.100917431192661 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65503835 65503835 + G G A RNA SNP NA NA NA NA ncRNA_exonic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 68 0 106 25 0.190839694656489 TRUE NA ENSG00000251562.8 . BCM GRCh38.p13 chr11 65505304 65505304 + G G A RNA SNP NA NA NA NA ncRNA_intronic ENSG00000251562.8 . . . 11q13.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MALAT1 143 0 234 50 0.176056338028169 TRUE NA ENSG00000238244.3 . BCM GRCh38.p13 chr15 90349149 90349149 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000238244.3;ENSG00000279980.1 . . . 15q26.1 C3L-04072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GABARAPL3 250 0 400 100 0.2 TRUE NA ENSG00000205786.8 . BCM GRCh38.p13 chr19 35408287 35408287 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000205786.8 . . . 19q13.12 C3L-04072 0.0004 0 0 0 0 0 0 0.0007 rs145775447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC01531 44 1 82 27 0.247706422018349 TRUE NA ENSG00000142733.17 . BCM GRCh38.p13 chr1 27366492 27366510 + CCGGGGGCGCCGCGAGCTG CCGGGGGCGCCGCGAGCTG - Frame_Shift_Del DEL ENST00000357582.3 exon1 c.88_106del p.Q30Afs*16 exonic ENSG00000142733.17 . frameshift deletion ENSG00000142733.17:ENST00000357582.3:exon1:c.88_106del:p.Q30Afs*16 1p36.11 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP3K6 18 0 13 13 0.5 TRUE TRUE ENSG00000116544.12 . BCM GRCh38.p13 chr1 34905013 34905013 + T T A Missense_Mutation SNP ENST00000373347.6 exon3 c.A371T p.Q124L exonic ENSG00000116544.12 . nonsynonymous SNV ENSG00000116544.12:ENST00000373347.6:exon3:c.A371T:p.Q124L 1p34.3 C3L-02613 . . . . . . . . . 14.20 D D P P D D M T D 0.826 T T D 0.357 0.183 0.571 1.450 T D D D D D 3.806 25.900 0.995 D D 0.551 5.457 0.541 5.556 1.000 0.653 0.610 0.597 0.613 . 4.470 4.470 7.899 1.129 0.654 1.000 1.000 1.000 914 . . . ID=COSV99332805;OCCURENCE=1(stomach) DLGAP3 323 0 626 297 0.321776814734561 TRUE TRUE ENSG00000163873.10 . BCM GRCh38.p13 chr1 36825724 36825724 + G G A Nonsense_Mutation SNP ENST00000373091.8 exon11 c.C1633T p.R545X exonic ENSG00000163873.10 . stopgain ENSG00000163873.10:ENST00000373091.8:exon11:c.C1633T:p.R545X 1p34.3 C3L-02613 . . . . . . . . . 5.6 . . . . D A . . . 0.976 . . . . . . . . . D D . . 7.741 39 0.998 D N 0.867 10.240 0.753 8.872 1.000 0.615 0.590 0.659 0.564 . 5.460 5.460 4.784 1.176 0.676 1.000 0.994 0.995 582 Ionotropic_glutamate_receptor,_L-glutamate_and_glycine-binding_domain;Ionotropic_glutamate_receptor . . . GRIK3 125 0 246 105 0.299145299145299 TRUE TRUE ENSG00000127603.29 . BCM GRCh38.p13 chr1 39387757 39387757 + C C A Missense_Mutation SNP ENST00000372915.7 exon57 c.C14930A p.S4977Y exonic ENSG00000127603.29 . nonsynonymous SNV ENSG00000127603.29:ENST00000372915.7:exon57:c.C14930A:p.S4977Y 1p34.3 C3L-02613 . . . . . . . . . 11.19 D D D D D D . T D 0.384 T T T 0.153 0.438 0.227 . T T T T D D 3.525 24.800 0.986 D D 0.515 5.151 0.541 5.556 1.000 0.731 0.725 0.723 0.649 . 6.170 5.270 4.556 1.026 0.599 1.000 1.000 0.998 809 . . . . MACF1 216 0 467 163 0.258730158730159 TRUE TRUE ENSG00000178965.14 . BCM GRCh38.p13 chr1 74573120 74573120 + C C T Missense_Mutation SNP ENST00000326665.10 exon14 c.G2590A p.A864T exonic ENSG00000178965.14 . nonsynonymous SNV ENSG00000178965.14:ENST00000326665.10:exon14:c.G2590A:p.A864T 1p31.1 C3L-02613 . . . . . . . . . 1.18 T T D P . N N T N 0.112 T T T 0.081 0.250 0.110 0.021 . T T T T T 1.695 16.990 0.873 N N -0.360 1.471 -0.444 1.296 0.000 0.516 0.610 0.547 0.564 . 5.230 3.250 1.158 0.129 0.599 0.001 0.001 0.005 713 . . . . ERICH3 97 0 173 76 0.305220883534137 TRUE TRUE ENSG00000134249.7 . BCM GRCh38.p13 chr1 119894096 119894096 + T T A Missense_Mutation SNP ENST00000369400.2 exon1 c.A2241T p.K747N exonic ENSG00000134249.7 . nonsynonymous SNV ENSG00000134249.7:ENST00000369400.2:exon1:c.A2241T:p.K747N 1p12 C3L-02613 . . . . . . . . . 1.19 D T B B . N N T N 0.175 T T T 0.004 0.226 0.072 0.122 T T T T T T -0.032 1.146 0.864 N N -1.277 0.178 -1.379 0.162 1.000 0.497 0.590 0.547 0.542 . 2.360 -2.740 -0.283 0.644 -0.770 0.000 0.007 0.001 882 . . . . ADAM30 288 0 409 148 0.265709156193896 TRUE TRUE ENSG00000134250.20 . BCM GRCh38.p13 chr1 119915749 119915749 + G G A Nonsense_Mutation SNP ENST00000256646.7 exon34 c.C6973T p.Q2325X exonic ENSG00000134250.20 . stopgain ENSG00000134250.20:ENST00000256646.7:exon34:c.C6973T:p.Q2325X 1p12 C3L-02613 . . . . . . . . . 4.6 . . . . U D . . . 0.730 . . . . . . . . . D D . . 8.477 43 0.997 D N 1.115 18.203 0.972 17.212 0.998 0.707 0.660 0.725 0.714 . 5.500 5.500 4.913 1.101 0.590 1.000 0.994 0.989 837 . . . ID=COSV56682148;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) NOTCH2 46 0 121 52 0.300578034682081 TRUE TRUE ENSG00000163346.17 . BCM GRCh38.p13 chr1 154951246 154951246 + G G T Nonsense_Mutation SNP ENST00000368463.8 exon5 c.C395A p.S132X exonic ENSG00000163346.17 . stopgain ENSG00000163346.17:ENST00000368463.8:exon5:c.C395A:p.S132X 1q21.3 C3L-02613 . . . . . . . . . 3.6 . . . . N A . . . 0.197 . . . . . . . . . D D . . 5.896 35 0.983 N N 0.219 3.389 -0.079 2.108 1.000 0.707 0.686 0.644 0.714 . 4.290 3.330 1.751 1.176 0.618 0.031 0.115 0.284 331 . . . . PBXIP1 109 0 301 168 0.358208955223881 TRUE TRUE ENSG00000116833.14 . BCM GRCh38.p13 chr1 200120907 200120907 + G G C Missense_Mutation SNP ENST00000367362.8 exon7 c.G1330C p.D444H exonic ENSG00000116833.14 . nonsynonymous SNV ENSG00000116833.14:ENST00000367362.8:exon7:c.G1330C:p.D444H 1q32.1 C3L-02613 . . . . . . . . . 19.20 D D D D D D H D D 0.950 D D D 0.956 0.905 0.954 1.411 T D D D D D 4.366 31 0.996 D D 1.096 17.336 1.026 20.536 1.000 0.554 0.590 0.602 0.564 . 5.760 5.760 9.953 1.176 0.676 1.000 1.000 0.999 895 Nuclear_hormone_receptor,_ligand-binding_domain . . . NR5A2 131 0 174 82 0.3203125 TRUE TRUE ENSG00000076356.7 . BCM GRCh38.p13 chr1 208103164 208103164 + C C A Missense_Mutation SNP ENST00000367033.4 exon5 c.G1590T p.W530C exonic ENSG00000076356.7 . nonsynonymous SNV ENSG00000076356.7:ENST00000367033.4:exon5:c.G1590T:p.W530C 1q32.2 C3L-02613 . . . . . . . . . 18.20 D D D D D D H D D 0.975 D D D 0.928 0.905 0.924 1.067 T T D D D D 4.289 29.500 0.995 D D 0.970 12.999 0.868 12.455 1.000 0.672 0.596 0.576 0.711 . 4.800 4.800 7.624 1.026 0.599 1.000 1.000 0.996 917 PSI_domain . . . PLXNA2 203 0 436 151 0.257240204429302 TRUE TRUE ENSG00000119283.15 . BCM GRCh38.p13 chr1 231209087 231209087 + G G A Missense_Mutation SNP ENST00000366653.5 exon8 c.G1960A p.E654K exonic ENSG00000119283.15 . nonsynonymous SNV ENSG00000119283.15:ENST00000366653.5:exon8:c.G1960A:p.E654K 1q42.2 C3L-02613 . . . . . . . . . 18.20 D D D D D D M D D 0.983 D D D 0.890 0.891 0.877 1.567 T T D D D D 4.288 29.500 0.999 D D 0.964 12.822 0.910 14.168 1.000 0.428 0.547 0.547 0.613 . 5.730 4.760 7.951 1.176 0.676 1.000 1.000 0.996 889 0.000 . . . TRIM67 118 0 301 119 0.283333333333333 TRUE NA ENSG00000162714.12 . BCM GRCh38.p13 chr1 247328725 247328725 + C C A Missense_Mutation SNP ENST00000294753.8 exon4 c.G532T p.G178W exonic ENSG00000162714.12 . nonsynonymous SNV ENSG00000162714.12:ENST00000294753.8:exon4:c.G532T:p.G178W 1q44 C3L-02613 . . . . . . . . . 10.20 D D D D D D M T D 0.513 T T T 0.195 0.445 0.219 1.410 T T T T D T 3.541 24.800 0.994 D N 0.382 4.234 0.336 3.935 1.000 0.707 0.702 0.702 0.714 . 4.700 4.700 2.720 0.921 0.599 0.944 0.232 0.437 912 . . . . ZNF496 45 0 101 53 0.344155844155844 TRUE TRUE ENSG00000084674.15 . BCM GRCh38.p13 chr2 21007462 21007462 + G G C Missense_Mutation SNP ENST00000233242.5 exon26 c.C9406G p.R3136G exonic ENSG00000084674.15 . nonsynonymous SNV ENSG00000084674.15:ENST00000233242.5:exon26:c.C9406G:p.R3136G 2p24.1 C3L-02613 . . . . . . . . . 2.15 T T . . N N . T N 0.073 T T T 0.004 0.427 0.364 0.044 T . T T D . 0.817 9.562 0.691 N D -1.190 0.234 -1.148 0.329 0.995 0.487 0.590 0.574 0.564 . 5.680 0.363 0.174 0.200 -0.140 0.000 0.261 0.316 861 . . . . APOB 262 0 396 169 0.299115044247788 TRUE TRUE ENSG00000152291.14 . BCM GRCh38.p13 chr2 85327445 85327445 + T T C Missense_Mutation SNP ENST00000377386.8 exon2 c.A287G p.N96S exonic ENSG00000152291.14 . nonsynonymous SNV ENSG00000152291.14:ENST00000377386.8:exon2:c.A287G:p.N96S 2p11.2 C3L-02613 . . . . . . . . . 0.19 T T B B . N N T N 0.101 T T T 0.014 . 0.081 . T T T T T T -1.258 0.002 0.499 N N -1.962 0.011 -2.050 0.011 1.000 0.442 0.522 0.522 0.562 . 3.220 -6.440 -1.959 -5.337 -4.031 0.000 0.000 0.000 894 . . . . TGOLN2 454 1 816 409 0.333877551020408 TRUE NA ENSG00000187627.16 . BCM GRCh38.p13 chr2 86986832 86986832 + T T A Missense_Mutation SNP ENST00000409776.6 exon20 c.T3909A p.D1303E exonic ENSG00000187627.16 . nonsynonymous SNV ENSG00000187627.16:ENST00000409776.6:exon20:c.T3909A:p.D1303E 2p11.2 C3L-02613 . . . . . . . . . 9.19 D T D D . N M T D 0.248 T T T 0.085 0.154 0.076 . T T T T D D 3.064 23.500 0.994 D D -0.055 2.323 -0.143 1.928 0.000 0.638 0.670 0.653 0.668 . 2.350 1.140 1.763 1.014 0.319 1.000 1.000 0.991 544 . . . . RGPD1 59 0 139 47 0.252688172043011 NA TRUE ENSG00000144026.12 . BCM GRCh38.p13 chr2 95150049 95150049 + T T C Missense_Mutation SNP ENST00000295208.7 exon5 c.A436G p.T146A exonic ENSG00000144026.12 . nonsynonymous SNV ENSG00000144026.12:ENST00000295208.7:exon5:c.A436G:p.T146A 2q11.1 C3L-02613 . . . . . . . . . 0.19 T T B B . N N T N 0.140 T T T 0.076 0.405 0.328 0.044 T T T T T T 0.627 7.773 0.575 N N -0.767 0.704 -0.893 0.629 0.004 0.707 0.670 0.725 0.636 . 2.920 1.750 0.027 0.877 0.665 0.000 0.004 0.012 . . . . . ZNF514 197 0 337 176 0.34307992202729 TRUE TRUE ENSG00000249715.12 . BCM GRCh38.p13 chr2 96704678 96704704 + GCCCCAGGAGACTAATTAGTCCATGCT GCCCCAGGAGACTAATTAGTCCATGCT - Frame_Shift_Del DEL ENST00000624922.6 exon53 c.6160_6186del p.P2055_D2057delinsWLSSCYQQPSPWAGYQFFVSIF exonic ENSG00000249715.12 . frameshift deletion ENSG00000249715.12:ENST00000624922.6:exon53:c.6160_6186del:p.P2055_D2057delinsWLSSCYQQPSPWAGYQFFVSIF 2q11.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FER1L5 165 0 326 143 0.304904051172708 TRUE NA ENSG00000144191.12 . BCM GRCh38.p13 chr2 98396675 98396675 + T T A Missense_Mutation SNP ENST00000272602.7 exon8 c.T1505A p.V502E exonic ENSG00000144191.12 . nonsynonymous SNV ENSG00000144191.12:ENST00000272602.7:exon8:c.T1505A:p.V502E 2q11.2 C3L-02613 . . . . . . . . . 18.20 D D D D D D L D D 0.908 D D D 0.866 0.619 0.993 0.649 T D D D D D 4.102 27.800 0.990 D D 0.723 7.459 0.678 7.363 1.000 0.497 0.563 0.547 0.542 . 4.830 4.830 7.671 1.135 0.660 1.000 0.885 0.988 279 Cyclic_nucleotide-binding_domain . . . CNGA3 451 0 1063 463 0.303407601572739 TRUE TRUE ENSG00000153165.19 . BCM GRCh38.p13 chr2 106424733 106424733 + T T G Missense_Mutation SNP ENST00000409886.4 exon20 c.A3234C p.K1078N exonic ENSG00000153165.19 . nonsynonymous SNV ENSG00000153165.19:ENST00000409886.4:exon20:c.A3234C:p.K1078N 2q12.2 C3L-02613 . . . . . . . . . 11.19 D D D D . N M T D 0.903 T T T 0.320 0.641 0.199 . D T D T D D 3.543 24.800 0.998 D N 0.346 4.028 0.159 2.989 0.102 0.554 0.588 0.618 0.621 . 2.350 2.350 2.110 1.014 0.309 1.000 1.000 0.976 911 Ran_binding_domain . . . RGPD3 550 0 936 441 0.320261437908497 NA TRUE ENSG00000176601.13 . BCM GRCh38.p13 chr2 134987244 134987244 + T T A Missense_Mutation SNP ENST00000392915.6 exon10 c.A1628T p.K543M exonic ENSG00000176601.13 . nonsynonymous SNV ENSG00000176601.13:ENST00000392915.6:exon10:c.A1628T:p.K543M 2q21.3 C3L-02613 . . . . . . . . . 15.20 D D D D D D M T N 0.609 D D D 0.274 0.193 0.873 0.617 T T D D D T 3.278 24.100 0.993 D D 0.376 4.196 0.273 3.566 0.995 0.487 0.547 0.574 0.530 . 5.100 5.100 5.918 1.138 0.665 1.000 0.038 0.258 897 . . . . MAP3K19 164 0 282 139 0.330166270783848 TRUE TRUE ENSG00000082438.17 . BCM GRCh38.p13 chr2 164728151 164728151 + A A C Missense_Mutation SNP ENST00000375458.6 exon4 c.T479G p.I160R exonic ENSG00000082438.17 . nonsynonymous SNV ENSG00000082438.17:ENST00000375458.6:exon4:c.T479G:p.I160R 2q24.3 C3L-02613 . . . . . . . . . 18.20 D D D D D D M D D 0.786 D D D 0.823 0.713 0.978 0.417 T T D D D D 3.820 25.900 0.989 D D 0.827 9.327 0.850 11.769 1.000 0.706 0.574 0.574 0.613 . 6.170 6.170 9.325 1.312 0.756 1.000 0.998 0.942 868 Cordon-bleu,_ubiquitin-like_domain . . . COBLL1 166 0 272 94 0.256830601092896 TRUE TRUE ENSG00000136531.17 . BCM GRCh38.p13 chr2 165314035 165314035 + A A G Missense_Mutation SNP ENST00000375437.7 exon10 c.A1310G p.E437G exonic ENSG00000136531.17 . nonsynonymous SNV ENSG00000136531.17:ENST00000375437.7:exon10:c.A1310G:p.E437G 2q24.3 C3L-02613 . . . . . . . . . 18.20 D D D D N D M D D 0.306 D D D 0.790 0.273 0.961 . T D D D D D 3.738 25.600 0.999 D D 0.897 10.973 0.873 12.662 1.000 0.554 0.574 0.618 0.564 . 5.770 5.770 9.325 1.312 0.756 1.000 0.979 0.992 782 . . . . SCN2A 229 0 380 109 0.222903885480573 TRUE TRUE ENSG00000118997.14 . BCM GRCh38.p13 chr2 195934653 195934653 + T T - Frame_Shift_Del DEL ENST00000312428.11 exon21 c.3409delA p.R1137Efs*11 exonic ENSG00000118997.14 . frameshift deletion ENSG00000118997.14:ENST00000312428.11:exon21:c.3409delA:p.R1137Efs*11 2q32.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH7 189 0 353 24 0.0636604774535809 NA TRUE ENSG00000115020.17 . BCM GRCh38.p13 chr2 208285811 208285811 + G G C Missense_Mutation SNP ENST00000264380.9 exon6 c.G699C p.L233F exonic ENSG00000115020.17 . nonsynonymous SNV ENSG00000115020.17:ENST00000264380.9:exon6:c.G699C:p.L233F 2q34 C3L-02613 8.237e-06 0 0 0 0 1.498e-05 0 0 rs777357869 11.20 D D D D D D L T D 0.867 T T T 0.144 0.203 0.514 1.025 T D T T D D 3.631 25.100 0.999 D N 0.470 4.809 0.445 4.694 0.895 0.563 0.654 0.609 0.636 . 5.920 3.130 2.212 1.176 0.676 1.000 1.000 0.997 652 . . . . PIKFYVE 274 0 419 171 0.289830508474576 TRUE NA ENSG00000144406.19 . BCM GRCh38.p13 chr2 209976283 209976283 + C C T Missense_Mutation SNP ENST00000439458.5 exon56 c.C8554T p.R2852C exonic ENSG00000144406.19 . nonsynonymous SNV ENSG00000144406.19:ENST00000439458.5:exon56:c.C8554T:p.R2852C 2q34 C3L-02613 . . . . . . . . . 12.19 D D D D . D L T N 0.737 T T T 0.224 0.548 0.554 1.244 D T D D D D 3.785 25.800 0.999 D D 0.573 5.661 0.609 6.342 0.001 0.487 0.574 0.574 0.530 . 5.850 4.900 3.149 1.026 0.599 1.000 1.000 0.993 748 . . . ID=COSV55897971;OCCURENCE=1(large_intestine),1(stomach) UNC80 290 0 506 174 0.255882352941176 TRUE TRUE ENSG00000163464.8 . BCM GRCh38.p13 chr2 218165055 218165055 + T T A Missense_Mutation SNP ENST00000295683.3 exon2 c.A157T p.S53C exonic ENSG00000163464.8 . nonsynonymous SNV ENSG00000163464.8:ENST00000295683.3:exon2:c.A157T:p.S53C 2q35 C3L-02613 . . . . . . . . . 11.20 D T D D D D M T D 0.489 T T D 0.266 0.647 0.732 0.405 T T T T D T 3.329 24.200 0.991 D D 0.505 5.076 0.491 5.077 1.000 0.497 0.563 0.590 0.530 . 5.350 5.350 3.250 1.138 0.665 0.932 0.879 0.866 929 . . . . CXCR1 293 0 721 38 0.0500658761528327 TRUE TRUE ENSG00000079263.19 . BCM GRCh38.p13 chr2 230253327 230253327 + T T A Missense_Mutation SNP ENST00000392045.8 exon11 c.T1069A p.S357T exonic ENSG00000079263.19 . nonsynonymous SNV ENSG00000079263.19:ENST00000392045.8:exon11:c.T1069A:p.S357T 2q37.1 C3L-02613 . . . . . . . . . 0.19 T T P B . N N T N 0.163 T T T 0.063 0.149 0.549 0.080 T T T T T T 0.150 2.576 0.303 N N -0.615 0.961 -0.809 0.745 0.025 0.672 0.702 0.618 0.530 . 2.550 1.360 0.005 0.011 0.647 0.000 0.001 0.001 834 . . . . SP140 172 0 281 106 0.27390180878553 NA TRUE ENSG00000008300.17 . BCM GRCh38.p13 chr3 48660525 48660525 + C C T Missense_Mutation SNP ENST00000164024.5 exon1 c.G2110A p.A704T exonic ENSG00000008300.17 . nonsynonymous SNV ENSG00000008300.17:ENST00000164024.5:exon1:c.G2110A:p.A704T 3p21.31 C3L-02613 8.247e-06 0 0 0 0 0 0 6.061e-05 rs767164011 6.19 T D D P . D N T N 0.628 T T T 0.216 0.386 0.567 1.831 T T T T T D 3.027 23.500 0.997 D D 0.251 3.536 0.321 3.842 1.000 0.635 0.514 0.644 0.621 . 5.950 5.070 4.952 1.026 0.599 1.000 0.996 0.955 3 Cadherin-like . . . CELSR3 208 0 248 187 0.429885057471264 TRUE NA ENSG00000163377.16 . BCM GRCh38.p13 chr3 68739071 68739084 + TTGCCTTCGTAGTT TTGCCTTCGTAGTT - Nonsense_Mutation DEL ENST00000295569.12 exon5 c.402_411del p.T135* exonic ENSG00000163377.16 . stopgain ENSG00000163377.16:ENST00000295569.12:exon5:c.402_411del:p.T135* 3p14.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TAFA4 170 0 130 94 0.419642857142857 TRUE TRUE ENSG00000114544.16 . BCM GRCh38.p13 chr3 126068050 126068050 + G G A Missense_Mutation SNP ENST00000315891.10 exon2 c.C170T p.P57L exonic ENSG00000114544.16 . nonsynonymous SNV ENSG00000114544.16:ENST00000315891.10:exon2:c.C170T:p.P57L 3q21.2 C3L-02613 . . . . . . . . . 1.20 T T B B N N N T D 0.040 T T T 0.007 0.326 0.076 0.150 T T T T T T -0.134 0.705 0.410 N N -1.320 0.154 -1.291 0.215 0.018 0.732 0.710 0.710 0.728 . 3.950 1.930 -0.025 -0.212 -0.797 0.008 0.007 0.001 825 . . . . SLC41A3 126 0 282 86 0.233695652173913 TRUE NA ENSG00000206384.10 . BCM GRCh38.p13 chr3 130565096 130565096 + G G T Missense_Mutation SNP ENST00000358511.10 exon3 c.G764T p.S255I exonic ENSG00000206384.10 . nonsynonymous SNV ENSG00000206384.10:ENST00000358511.10:exon3:c.G764T:p.S255I 3q22.1 C3L-02613 . . . . . . . . . 1.20 T T B B D N N T N 0.348 T T T 0.368 0.492 0.411 0.392 T T T T T T 1.531 15.930 0.576 N N -0.625 0.943 -0.411 1.352 0.001 0.487 0.590 0.574 0.564 . 5.090 4.150 1.707 0.217 0.676 0.006 0.377 0.972 670 von_Willebrand_factor,_type_A . . ID=COSV62031119;OCCURENCE=1(kidney) COL6A6 258 0 420 214 0.337539432176656 TRUE TRUE ENSG00000168779.19 . BCM GRCh38.p13 chr3 158105866 158105866 + G G T Missense_Mutation SNP ENST00000441443.6 exon1 c.C159A p.S53R exonic ENSG00000168779.19 . nonsynonymous SNV ENSG00000168779.19:ENST00000441443.6:exon1:c.C159A:p.S53R 3q25.32 C3L-02613 . . . . . . . . . 7.20 T T P P D D N T N 0.172 T D D 0.272 0.296 0.797 0.894 D T T T D T 2.622 22.700 0.971 D N -0.219 1.823 -0.163 1.877 1.000 0.437 0.492 0.607 0.555 . 3.900 2.050 1.357 0.151 -0.223 1.000 1.000 0.985 554 . . . . SHOX2 181 0 524 199 0.275242047026279 TRUE TRUE ENSG00000169760.17 . BCM GRCh38.p13 chr3 173807769 173807769 + A A T Missense_Mutation SNP ENST00000457714.5 exon4 c.A583T p.S195C exonic ENSG00000169760.17 . nonsynonymous SNV ENSG00000169760.17:ENST00000457714.5:exon4:c.A583T:p.S195C 3q26.31 C3L-02613 . . . . . . . . . 17.19 D D D D D D . T D 0.828 D D D 0.784 0.690 0.655 1.113 D T D D D D 4.155 28.200 0.994 D D 0.975 13.167 0.898 13.657 1.000 0.706 0.574 0.653 0.613 . 5.430 5.430 9.325 1.312 0.756 1.000 1.000 0.998 914 Carboxylesterase,_type_B . . . NLGN1 261 0 652 153 0.190062111801242 TRUE TRUE ENSG00000038210.14 . BCM GRCh38.p13 chr4 25252406 25252406 + A A T Missense_Mutation SNP ENST00000264864.8 exon2 c.A354T p.E118D exonic ENSG00000038210.14 . nonsynonymous SNV ENSG00000038210.14:ENST00000264864.8:exon2:c.A354T:p.E118D 4p15.2 C3L-02613 . . . . . . . . . 3.20 T T B B D D L T N 0.113 T T T 0.090 0.326 0.503 0.294 T T T T T D 1.948 18.860 0.992 N N -0.435 1.309 -0.267 1.633 0.999 0.507 0.658 0.659 0.655 . 5.430 3.040 0.963 1.312 0.691 0.824 1.000 0.998 676 . . . . PI4K2B 135 0 97 72 0.42603550295858 TRUE TRUE ENSG00000163288.14 . BCM GRCh38.p13 chr4 47403438 47403438 + A A T Missense_Mutation SNP ENST00000295454.8 exon6 c.A665T p.K222M exonic ENSG00000163288.14 . nonsynonymous SNV ENSG00000163288.14:ENST00000295454.8:exon6:c.A665T:p.K222M 4p12 C3L-02613 . . . . . . . . . 7.20 T T D P N D N T N 0.421 T T D 0.402 0.507 0.866 1.837 T T T T D D 3.656 25.200 0.982 D D 0.189 3.254 0.344 3.983 0.272 0.487 0.574 0.574 0.530 . 5.430 5.430 6.116 1.312 0.756 1.000 1.000 1.000 793 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . GABRB1 99 0 159 76 0.323404255319149 TRUE TRUE ENSG00000132466.19 . BCM GRCh38.p13 chr4 73091136 73091136 + C C T Missense_Mutation SNP ENST00000358602.9 exon29 c.G6492A p.M2164I exonic ENSG00000132466.19 . nonsynonymous SNV ENSG00000132466.19:ENST00000358602.9:exon29:c.G6492A:p.M2164I 4q13.3 C3L-02613 . . . . . . . . . 2.20 T T B B D N N T N 0.196 T T T 0.070 0.130 0.403 0.329 T T T T T T 1.510 15.800 0.787 D N -0.138 2.056 0.052 2.547 0.989 0.707 0.702 0.702 0.714 . 5.070 5.070 0.282 0.130 0.599 0.197 1.000 0.998 778 . . . . ANKRD17 234 0 504 234 0.317073170731707 TRUE TRUE ENSG00000138685.16 . BCM GRCh38.p13 chr4 122827307 122827307 + C C T Missense_Mutation SNP ENST00000644866.2 exon1 c.C133T p.P45S exonic ENSG00000138685.16 . nonsynonymous SNV ENSG00000138685.16:ENST00000644866.2:exon1:c.C133T:p.P45S 4q28.1 C3L-02613 . . . . . . . . . 7.19 D T P P N . L D D 0.118 T T D 0.335 0.596 0.777 . T D T T D D 3.027 23.500 0.987 N N 0.025 2.603 0.043 2.511 1.000 0.733 0.219 0.601 0.373 . 3.560 3.560 1.366 0.946 0.504 0.712 0.998 0.589 511 . . . . FGF2 174 0 195 202 0.508816120906801 TRUE TRUE ENSG00000174358.16 . BCM GRCh38.p13 chr5 1219600 1219600 + A A T Missense_Mutation SNP ENST00000304460.11 exon10 c.A1474T p.I492F exonic ENSG00000174358.16 . nonsynonymous SNV ENSG00000174358.16:ENST00000304460.11:exon10:c.A1474T:p.I492F 5p15.33 C3L-02613 . . . . . . . . . 9.20 T T P B D D L T N 0.445 T T D 0.461 0.342 0.614 0.503 T T D D D D 2.346 21.800 0.709 D D -0.164 1.981 -0.120 1.990 1.000 0.497 0.590 0.578 0.563 . 4.830 3.670 2.274 1.239 0.677 0.998 0.674 0.674 923 . . . . SLC6A19 301 0 801 667 0.454359673024523 TRUE TRUE ENSG00000154162.15 . BCM GRCh38.p13 chr5 21751883 21751883 + C C T Missense_Mutation SNP ENST00000382254.6 exon15 c.G2239A p.V747M exonic ENSG00000154162.15 . nonsynonymous SNV ENSG00000154162.15:ENST00000382254.6:exon15:c.G2239A:p.V747M 5p14.3 C3L-02613 8.241e-06 0 0 0 0 1.499e-05 0 0 rs763180534 7.20 D T P B N D M T N 0.494 T D D 0.350 0.524 0.765 0.774 T T T T T D 1.497 15.720 0.996 D N -0.183 1.924 -0.389 1.391 0.089 0.554 0.574 0.574 0.621 . 4.940 0.576 1.840 0.129 0.549 0.185 0.002 0.086 853 Cadherin,_cytoplasmic_domain . . ID=COSV66389256;OCCURENCE=1(breast),1(large_intestine),1(upper_aerodigestive_tract) CDH12 376 0 1162 77 0.0621468926553672 TRUE TRUE ENSG00000113389.16 . BCM GRCh38.p13 chr5 32712278 32712278 + G G A Missense_Mutation SNP ENST00000265074.13 exon1 c.G502A p.D168N exonic ENSG00000113389.16 . nonsynonymous SNV ENSG00000113389.16:ENST00000265074.13:exon1:c.G502A:p.D168N 5p13.3 C3L-02613 . . . . . . . . . 5.20 T T B B N D N D N 0.090 T T D 0.230 0.330 0.857 . T T T T T D 2.379 22.000 0.995 D N -0.361 1.470 -0.132 1.959 1.000 0.437 0.563 0.607 0.555 . 4.890 4.890 1.490 1.172 0.672 0.997 0.996 0.952 844 Receptor,_ligand_binding_region . . ID=COSV54090080;OCCURENCE=1(skin) NPR3 140 0 394 245 0.383411580594679 TRUE TRUE ENSG00000168724.17 . BCM GRCh38.p13 chr5 34950315 34950315 + G G T Missense_Mutation SNP ENST00000648817.1 exon10 c.G1331T p.C444F exonic ENSG00000168724.17 . nonsynonymous SNV ENSG00000168724.17:ENST00000648817.1:exon10:c.G1331T:p.C444F 5p13.2 C3L-02613 . . . . . . . . . 4.20 D T D P N N M T N 0.259 T T T 0.081 0.141 0.574 0.316 T T T T D T 3.444 24.500 0.904 N N -0.003 2.500 0.006 2.380 0.999 0.707 0.725 0.725 0.714 . 5.670 3.820 1.132 1.176 0.618 0.423 0.798 0.996 554 . . . . DNAJC21 89 0 247 20 0.0749063670411985 TRUE TRUE ENSG00000053108.17 . BCM GRCh38.p13 chr5 133400923 133400923 + C C T Missense_Mutation SNP ENST00000265342.12 exon4 c.G224A p.R75Q exonic ENSG00000053108.17 . nonsynonymous SNV ENSG00000053108.17:ENST00000265342.12:exon4:c.G224A:p.R75Q 5q31.1 C3L-02613 0.0001 0.0007 0.0004 0 0 1.547e-05 0 0 rs368837848 1.20 T T B B N N L T N 0.116 T T T 0.033 . 0.372 0.262 T T T T T D 1.390 15.020 0.993 N N -0.646 0.905 -0.519 1.171 0.983 0.497 0.547 0.299 0.542 . 5.570 2.420 0.877 -0.723 -0.823 0.053 0.057 0.853 714 . . . ID=COSV54769570;OCCURENCE=1(lung) FSTL4 215 0 483 212 0.305035971223022 TRUE TRUE ENSG00000239389.8 . BCM GRCh38.p13 chr5 140883337 140883337 + C C G Missense_Mutation SNP ENST00000289272.3 exon1 c.C1069G p.L357V exonic ENSG00000239389.8 . nonsynonymous SNV ENSG00000239389.8:ENST00000289272.3:exon1:c.C1069G:p.L357V 5q31.3 C3L-02613 . . . . . . . . . 1.18 T T B B . N N T D 0.124 T T T 0.028 0.411 0.390 . . T T T T T 1.163 13.340 0.866 N N -0.772 0.696 -0.737 0.846 0.851 0.646 0.574 0.645 0.567 . 5.440 1.640 -0.675 1.026 0.599 0.000 0.890 0.984 74 . . . . PCDHA13 161 0 351 141 0.286585365853659 TRUE TRUE ENSG00000070814.22 . BCM GRCh38.p13 chr5 150396320 150396320 + T T G Missense_Mutation SNP ENST00000377797.7 exon24 c.T3820G p.S1274A exonic ENSG00000070814.22 . nonsynonymous SNV ENSG00000070814.22:ENST00000377797.7:exon24:c.T3820G:p.S1274A 5q32 C3L-02613 . . . . . . . . . 1.20 D T P B N N N T N 0.120 T T T 0.093 0.105 0.103 0.070 T T T T T T 1.478 15.600 0.986 N N -0.849 0.586 -0.781 0.784 0.454 0.707 0.702 0.702 0.714 . 4.540 0.521 -0.124 0.100 -0.272 0.963 0.870 0.448 856 . . . . TCOF1 292 2 588 274 0.317865429234339 TRUE TRUE ENSG00000183072.10 . BCM GRCh38.p13 chr5 173234875 173234875 + C C T Missense_Mutation SNP ENST00000329198.5 exon1 c.G209A p.R70H exonic ENSG00000183072.10 . nonsynonymous SNV ENSG00000183072.10:ENST00000329198.5:exon1:c.G209A:p.R70H 5q35.1 C3L-02613 . . . . . . . . . 7.20 T T D P N N L D N 0.289 T D D 0.225 0.225 0.773 1.550 T T T T D D 2.067 19.770 0.999 D N -0.161 1.989 -0.231 1.714 1.000 0.598 0.563 0.607 0.639 . 4.590 3.700 0.462 0.962 0.524 0.002 0.748 0.282 872 . . . ID=COSV61299276;OCCURENCE=1(prostate) NKX2-5 70 0 428 26 0.0572687224669604 TRUE TRUE ENSG00000204520.14 . BCM GRCh38.p13 chr6 31411287 31411287 + C C A Missense_Mutation SNP ENST00000449934.7 exon3 c.C541A p.H181N exonic ENSG00000204520.14 . nonsynonymous SNV ENSG00000204520.14:ENST00000449934.7:exon3:c.C541A:p.H181N 6p21.33 C3L-02613 . . . . . . . . . 1.17 D T B B U N . T N 0.146 T T T 0.033 0.303 0.014 0.213 T . T T T . 0.039 1.599 0.532 N N -1.647 0.045 -1.810 0.032 0.850 0.722 0.725 0.725 0.735 . 1.410 -2.820 -0.482 -0.458 -1.453 0.000 0.000 0.000 934 MHC_class_I-like_antigen_recognition-like . . . MICA 180 0 445 153 0.255852842809365 NA TRUE ENSG00000111886.11 . BCM GRCh38.p13 chr6 89265631 89265631 + G G T Missense_Mutation SNP ENST00000402938.4 exon7 c.C871A p.P291T exonic ENSG00000111886.11 . nonsynonymous SNV ENSG00000111886.11:ENST00000402938.4:exon7:c.C871A:p.P291T 6q15 C3L-02613 . . . . . . . . . 15.16 . D . . D D M D . 0.965 D D D 0.900 . 0.974 0.684 T D D D D D 4.073 27.500 0.997 D D 1.034 15.040 0.984 17.892 1.000 0.549 0.588 0.602 0.616 . 5.830 5.830 9.968 1.176 0.676 1.000 0.998 0.963 905 Neurotransmitter-gated_ion-channel_transmembrane_domain . . . GABRR2 122 0 108 93 0.462686567164179 TRUE TRUE ENSG00000112299.8 . BCM GRCh38.p13 chr6 132694071 132694071 + - NA T Frame_Shift_Ins NA ENST00000367928.5 exon3 c.452dupA p.C152Vfs*4 exonic ENSG00000112299.8 . frameshift insertion ENSG00000112299.8:ENST00000367928.5:exon3:c.452dupA:p.C152Vfs*4 6q23.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . VNN1 NA NA NA NA NA NA NA ENSG00000131016.17 . BCM GRCh38.p13 chr6 151352625 151352625 + G G A Missense_Mutation SNP ENST00000402676.7 exon4 c.G4234A p.V1412I exonic ENSG00000131016.17 . nonsynonymous SNV ENSG00000131016.17:ENST00000402676.7:exon4:c.G4234A:p.V1412I 6q25.1 C3L-02613 8.257e-06 9.733e-05 0 0 0 0 0 0 rs569396619 2.20 D T B B N N L T N 0.072 T T T 0.033 . 0.326 0.135 T T T T D T 1.430 15.280 0.978 N N -0.728 0.766 -0.731 0.856 1.000 0.737 0.616 0.733 0.735 . 4.860 2.960 1.437 1.176 0.676 0.003 0.608 0.179 928 . . . . AKAP12 142 0 334 38 0.102150537634409 TRUE NA ENSG00000180347.13 . BCM GRCh38.p13 chr7 31553175 31553175 + A A G Missense_Mutation SNP ENST00000407970.7 exon2 c.A151G p.I51V exonic ENSG00000180347.13 . nonsynonymous SNV ENSG00000180347.13:ENST00000407970.7:exon2:c.A151G:p.I51V 7p14.3 C3L-02613 . . . . . . . . . 0.19 T T B B N N . T N 0.037 T T T 0.005 0.160 0.040 0.028 T T T T T T -0.782 0.028 0.566 N N -1.080 0.324 -1.149 0.327 0.000 0.487 0.574 0.547 0.564 . 5.120 -1.640 -0.460 -0.049 -0.041 0.000 0.001 0.003 866 . . . . ITPRID1 86 0 176 64 0.266666666666667 TRUE NA ENSG00000127980.16 . BCM GRCh38.p13 chr7 92522125 92522125 + G G T Missense_Mutation SNP ENST00000248633.9 exon2 c.C250A p.L84I exonic ENSG00000127980.16 . nonsynonymous SNV ENSG00000127980.16:ENST00000248633.9:exon2:c.C250A:p.L84I 7q21.2 C3L-02613 . . . . . . . . . 16.20 D T D D D D M D N 0.545 D D D 0.600 0.695 0.875 0.702 T T D D D D 3.816 25.900 0.996 D D 0.878 10.494 0.885 13.125 1.000 0.706 0.634 0.710 0.655 . 6.030 6.030 7.753 1.176 0.676 1.000 1.000 0.993 798 Peroxisome_biogenesis_factor_1,_N-terminal,_alpha/beta . . . PEX1 266 0 521 40 0.071301247771836 TRUE TRUE ENSG00000105967.16 . BCM GRCh38.p13 chr7 115974199 115974199 + C C G Missense_Mutation SNP ENST00000265440.12 exon3 c.G238C p.A80P exonic ENSG00000105967.16 . nonsynonymous SNV ENSG00000105967.16:ENST00000265440.12:exon3:c.G238C:p.A80P 7q31.2 C3L-02613 . . . . . . . . . 2.20 T T B B U D N T N 0.319 T T T 0.020 0.340 0.267 0.048 T T T T T T 1.506 15.770 0.970 D N -0.879 0.547 -0.741 0.841 0.257 0.693 0.588 0.574 0.564 . 4.770 -2.880 0.551 -0.195 -0.169 0.995 0.980 0.994 730 . . . . TFEC 106 0 136 40 0.227272727272727 TRUE TRUE ENSG00000064419.13 . BCM GRCh38.p13 chr7 129017007 129017007 + C C T Missense_Mutation SNP ENST00000265388.9 exon3 c.G371A p.G124E exonic ENSG00000064419.13 . nonsynonymous SNV ENSG00000064419.13:ENST00000265388.9:exon3:c.G371A:p.G124E 7q32.1 C3L-02613 . . . . . . . . . 10.20 T T B B D D L T N 0.870 T T D 0.273 0.750 0.771 1.613 D T D D D D 2.003 19.280 0.692 D D 0.043 2.667 0.257 3.474 1.000 0.732 0.658 0.744 0.728 . 5.810 5.810 7.852 1.026 0.599 1.000 1.000 0.998 431 Exportin-1/Importin-beta-like . . . TNPO3 233 0 365 126 0.256619144602851 TRUE TRUE ENSG00000129422.14 . BCM GRCh38.p13 chr8 17754363 17754378 + GATTTTCCTAAACTGG GATTTTCCTAAACTGG - Frame_Shift_Del DEL ENST00000262102.10 exon2 c.1430_1445del p.P477Qfs*9 exonic ENSG00000129422.14 . frameshift deletion ENSG00000129422.14:ENST00000262102.10:exon2:c.1430_1445del:p.P477Qfs*9 8p22 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTUS1 274 0 242 177 0.422434367541766 TRUE TRUE ENSG00000253729.8 . BCM GRCh38.p13 chr8 47776977 47776977 + C C G Missense_Mutation SNP ENST00000314191.7 exon85 c.G12049C p.E4017Q exonic ENSG00000253729.8 . nonsynonymous SNV ENSG00000253729.8:ENST00000314191.7:exon85:c.G12049C:p.E4017Q 8q11.21 C3L-02613 8.329e-06 0 8.645e-05 0 0 0 0 0 rs375321876 11.17 . D D P D D M . . 0.354 D D T 0.396 0.340 0.834 0.675 T T T T D D 3.653 25.200 0.998 D D 0.699 7.106 0.718 8.096 1.000 0.707 0.725 0.725 0.714 . 5.620 5.620 7.482 1.001 0.587 1.000 0.986 0.968 620 Phosphatidylinositol_3-/4-kinase,_catalytic_domain . . . PRKDC 78 0 96 66 0.407407407407407 TRUE NA ENSG00000175073.8 . BCM GRCh38.p13 chr8 66666729 66666729 + T T G Missense_Mutation SNP ENST00000310421.5 exon1 c.A230C p.H77P exonic ENSG00000175073.8 . nonsynonymous SNV ENSG00000175073.8:ENST00000310421.5:exon1:c.A230C:p.H77P 8q13.1 C3L-02613 . . . . . . . . . 14.20 D D D D D D M T D 0.777 T T D 0.471 0.380 0.472 2.042 T T D D D T 4.207 28.700 0.969 D D 0.794 8.661 0.798 10.066 1.000 0.405 0.484 0.686 0.373 . 5.930 5.930 7.602 1.138 0.665 1.000 1.000 0.998 654 . . . . VCPIP1 85 0 231 90 0.280373831775701 TRUE TRUE ENSG00000104218.14 . BCM GRCh38.p13 chr8 67132007 67132007 + G G C Missense_Mutation SNP ENST00000262210.9 exon14 c.G1739C p.G580A exonic ENSG00000104218.14 . nonsynonymous SNV ENSG00000104218.14:ENST00000262210.9:exon14:c.G1739C:p.G580A 8q13.2 C3L-02613 . . . . . . . . . 8.18 D T D P N D . T D 0.600 T T T 0.227 . 0.675 0.543 T . D T D T 2.960 23.300 0.989 D D 0.471 4.816 0.509 5.240 1.000 0.732 0.709 0.744 0.684 . 5.300 5.300 5.118 1.176 0.618 1.000 0.953 0.696 714 . . . . CSPP1 66 0 119 11 0.0846153846153846 TRUE TRUE ENSG00000091656.19 . BCM GRCh38.p13 chr8 76863115 76863121 + GCATGCT GCATGCT - Frame_Shift_Del DEL ENST00000651372.2 exon11 c.9401_9407del p.G3134Vfs*64 exonic ENSG00000091656.19 . frameshift deletion ENSG00000091656.19:ENST00000651372.2:exon11:c.9401_9407del:p.G3134Vfs*64 8q21.13 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZFHX4 57 0 52 28 0.35 TRUE TRUE ENSG00000164796.18 . BCM GRCh38.p13 chr8 112265486 112265486 + T T C Missense_Mutation SNP ENST00000297405.10 exon60 c.A9613G p.M3205V exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon60:c.A9613G:p.M3205V 8q23.3 C3L-02613 8.241e-06 0 0 0 0 1.499e-05 0 0 rs762522299 10.20 D D B B D D L T D 0.732 T T T 0.250 . 0.749 0.233 T T D T D D 2.633 22.700 0.944 D D -0.045 2.355 0.072 2.621 0.123 0.487 0.574 0.547 0.564 . 5.440 4.250 5.024 1.138 0.609 1.000 0.484 0.711 865 Sushi/SCR/CCP_domain . . ID=COSV52331748;OCCURENCE=1(lung) CSMD3 255 0 469 65 0.121722846441948 TRUE TRUE ENSG00000107338.10 . BCM GRCh38.p13 chr9 37948688 37948688 + G G T Missense_Mutation SNP ENST00000377707.4 exon5 c.C1293A p.S431R exonic ENSG00000107338.10 . nonsynonymous SNV ENSG00000107338.10:ENST00000377707.4:exon5:c.C1293A:p.S431R 9p13.1 C3L-02613 . . . . . . . . . 20.20 D D D D D D M D D 0.971 D D D 0.852 0.708 0.956 0.996 D D D D D D 3.900 26.300 0.998 D D 0.631 6.258 0.563 5.786 1.000 0.706 0.710 0.644 0.714 . 5.110 4.210 4.353 1.106 0.596 1.000 1.000 0.998 674 SHB,_SH2_domain;SH2_domain . . . SHB 203 0 475 146 0.235104669887279 TRUE TRUE ENSG00000273514.1 . BCM GRCh38.p13 chr9 41127545 41127545 + C C T Missense_Mutation SNP ENST00000622588.1 exon1 c.G839A p.G280E exonic ENSG00000273514.1 . nonsynonymous SNV ENSG00000273514.1:ENST00000622588.1:exon1:c.G839A:p.G280E 9p11.2 C3L-02613 . . . . . . . . . 0.4 . T . . . . . . . 0.054 . . . . . . . . T . . . T -0.129 0.721 . . N . . . . . . . . . . . . 0.091 -0.400 -0.919 0.000 0.000 0.009 994 . . . . FOXD4L6 142 0 413 24 0.0549199084668192 NA TRUE ENSG00000204779.2 . BCM GRCh38.p13 chr9 65283539 65283539 + C C T Missense_Mutation SNP ENST00000377420.1 exon1 c.G839A p.G280E exonic ENSG00000204779.2 . nonsynonymous SNV ENSG00000204779.2:ENST00000377420.1:exon1:c.G839A:p.G280E 9q21.11 C3L-02613 . . . . . . . . . 2.20 T T B B N N N D N 0.022 T T D 0.167 0.426 0.148 . T T T T T T -0.295 0.319 0.868 N N -1.425 0.107 -1.489 0.112 0.000 0.487 0.574 0.590 0.542 . . . -1.032 -0.400 -0.935 0.000 0.000 0.010 . . . . . FOXD4L5 672 0 1511 297 0.164269911504425 NA TRUE ENSG00000165757.9 . BCM GRCh38.p13 chr10 30027270 30027270 + C C T Missense_Mutation SNP ENST00000375377.2 exon3 c.G2878A p.E960K exonic ENSG00000165757.9 . nonsynonymous SNV ENSG00000165757.9:ENST00000375377.2:exon3:c.G2878A:p.E960K 10p11.23 C3L-02613 . . . . . . . . . 3.20 D D P B N N L T N 0.123 T T T 0.055 0.371 0.204 0.216 T T T T D T 2.095 19.980 0.998 N N -0.193 1.897 -0.281 1.603 1.000 0.731 0.552 0.660 0.649 . 5.170 4.270 3.114 0.941 0.599 0.396 0.017 0.003 975 . . . . JCAD 275 0 333 270 0.447761194029851 TRUE TRUE ENSG00000148498.16 . BCM GRCh38.p13 chr10 34119718 34119718 + T T G Missense_Mutation SNP ENST00000374789.8 exon24 c.A3572C p.Q1191P exonic ENSG00000148498.16 . nonsynonymous SNV ENSG00000148498.16:ENST00000374789.8:exon24:c.A3572C:p.Q1191P 10p11.22 C3L-02613 . . . . . . . . . 6.20 T T D D N D N T N 0.390 T T T 0.098 0.179 0.429 0.104 T T T T D D 3.036 23.500 0.976 D N 0.072 2.776 0.100 2.736 0.953 0.706 0.588 0.710 0.655 . 5.400 4.220 4.573 1.135 0.665 1.000 0.896 0.340 927 . . . . PARD3 93 0 160 140 0.466666666666667 TRUE TRUE ENSG00000107736.21 . BCM GRCh38.p13 chr10 71803262 71803262 + C C A Missense_Mutation SNP ENST00000224721.12 exon55 c.C7714A p.Q2572K exonic ENSG00000107736.21 . nonsynonymous SNV ENSG00000107736.21:ENST00000224721.12:exon55:c.C7714A:p.Q2572K 10q22.1 C3L-02613 . . . . . . . . . 5.20 T D B B D D N T N 0.312 T T T 0.049 0.705 0.595 0.185 T T T T T T 2.095 19.980 0.954 D D -0.253 1.732 -0.066 2.146 1.000 0.497 0.547 0.590 0.542 . 5.020 4.110 3.030 1.026 0.589 1.000 1.000 0.998 807 Cadherin-like . . . CDH23 223 0 708 58 0.0757180156657963 TRUE NA ENSG00000184698.5 . BCM GRCh38.p13 chr11 5390245 5390245 + G G A Missense_Mutation SNP ENST00000642046.1 exon3 c.G847A p.A283T exonic ENSG00000184698.5 . nonsynonymous SNV ENSG00000184698.5:ENST00000642046.1:exon3:c.G847A:p.A283T 11p15.4 C3L-02613 4.154e-05 0 0.0004 0 0 0 0 0 rs779170296 0.18 T T . . U N L T N 0.122 T T T 0.039 . 0.072 0.011 T T T T T T 1.700 17.030 0.927 N N -0.812 0.638 -0.775 0.794 0.064 0.526 0.616 0.616 0.584 . 5.240 2.150 0.210 0.217 -0.107 0.000 0.002 0.001 706 GPCR,_rhodopsin-like,_7TM . . . OR51M1 177 1 231 135 0.368852459016393 TRUE NA ENSG00000135372.9 . BCM GRCh38.p13 chr11 34141164 34141164 + C C T Nonsense_Mutation SNP ENST00000257829.8 exon25 c.C2668T p.Q890X exonic ENSG00000135372.9 . stopgain ENSG00000135372.9:ENST00000257829.8:exon25:c.C2668T:p.Q890X 11p13 C3L-02613 . . . . . . . . . 5.6 . . . . D D . . . 0.453 . . . . . . . . . D D . . 8.292 42 0.998 D N 1.180 22.046 1.045 21.952 1.000 0.707 0.725 0.725 0.714 . 5.650 5.650 7.903 1.026 0.597 1.000 0.980 0.986 338 Possible_tRNA_binding_domain . . . NAT10 217 0 463 118 0.203098106712565 TRUE NA ENSG00000175216.15 . BCM GRCh38.p13 chr11 46796832 46796832 + C C G Missense_Mutation SNP ENST00000529230.6 exon12 c.G1447C p.D483H exonic ENSG00000175216.15 . nonsynonymous SNV ENSG00000175216.15:ENST00000529230.6:exon12:c.G1447C:p.D483H 11p11.2 C3L-02613 . . . . . . . . . 16.20 D D D D D D M T D 0.903 T T D 0.607 0.634 0.817 0.660 T D D D D D 4.101 27.800 0.996 D D 0.898 10.996 0.855 11.949 1.000 0.707 0.725 0.725 0.714 . 5.290 5.290 7.776 0.947 0.599 1.000 1.000 0.999 12 TOG_domain . . . CKAP5 139 0 214 130 0.377906976744186 TRUE TRUE ENSG00000131620.17 . BCM GRCh38.p13 chr11 70170982 70171010 + GCCAAAAAGTTTGTCACTGAGCTCCGAAG GCCAAAAAGTTTGTCACTGAGCTCCGAAG - Frame_Shift_Del DEL ENST00000355303.9 exon22 c.2293_2321del p.K766Gfs*35 exonic ENSG00000131620.17 . frameshift deletion ENSG00000131620.17:ENST00000355303.9:exon22:c.2293_2321del:p.K766Gfs*35 11q13.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANO1 183 0 427 69 0.139112903225806 TRUE TRUE ENSG00000137491.15 . BCM GRCh38.p13 chr11 75203335 75203349 + CAGCGCCATCGACAC CAGCGCCATCGACAC - In_Frame_Del DEL ENST00000289575.10 exon13 c.1857_1871del p.S620_T624del exonic ENSG00000137491.15 . nonframeshift deletion ENSG00000137491.15:ENST00000289575.10:exon13:c.1857_1871del:p.S620_T624del 11q13.4 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLCO2B1 160 0 520 45 0.079646017699115 TRUE TRUE ENSG00000137474.22 . BCM GRCh38.p13 chr11 77162265 77162265 + G G C Missense_Mutation SNP ENST00000409709.9 exon13 c.G1489C p.D497H exonic ENSG00000137474.22 . nonsynonymous SNV ENSG00000137474.22:ENST00000409709.9:exon13:c.G1489C:p.D497H 11q13.5 C3L-02613 . . . . . . . . . 19.20 D D D D D D M D D 0.889 D D D 0.882 0.793 0.978 0.506 T D D D D D 4.260 29.200 0.996 D D 0.997 13.838 0.935 15.350 1.000 0.603 0.549 0.602 0.563 . 5.390 5.390 10.003 1.175 0.618 1.000 1.000 0.987 569 Myosin_head,_motor_domain;Class_VII_myosin,_motor_domain . . . MYO7A 303 0 591 179 0.232467532467532 TRUE TRUE ENSG00000178795.9 . BCM GRCh38.p13 chr11 77271317 77271317 + A A C Missense_Mutation SNP ENST00000376217.6 exon5 c.T284G p.L95R exonic ENSG00000178795.9 . nonsynonymous SNV ENSG00000178795.9:ENST00000376217.6:exon5:c.T284G:p.L95R 11q13.5 C3L-02613 . . . . . . . . . 0.20 T T P P N N L T N 0.466 T T T 0.283 0.532 0.230 0.077 T T T T T T 2.253 21.300 0.347 N N -0.391 1.402 -0.455 1.276 0.001 0.554 0.574 0.618 0.530 . 4.380 1.850 1.544 0.302 -0.127 0.943 0.521 0.751 425 . . . . GDPD4 185 0 328 92 0.219047619047619 TRUE TRUE ENSG00000137707.13 . BCM GRCh38.p13 chr11 111497305 111497305 + G G C Nonsense_Mutation SNP ENST00000356018.6 exon4 c.C416G p.S139X exonic ENSG00000137707.13 . stopgain ENSG00000137707.13:ENST00000356018.6:exon4:c.C416G:p.S139X 11q23.1 C3L-02613 . . . . . . . . . 3.6 . . . . N D . . . 0.303 . . . . . . . . . D D . . 4.197 28.600 0.923 N N -0.085 2.224 -0.444 1.294 0.003 0.554 0.563 0.602 0.564 . 5.360 0.044 0.750 -0.150 -0.116 0.000 0.001 0.040 162 . . . . BTG4 69 1 131 8 0.0575539568345324 TRUE TRUE ENSG00000052126.14 . BCM GRCh38.p13 chr12 19274598 19274598 + A A T Missense_Mutation SNP ENST00000299275.10 exon10 c.A910T p.I304F exonic ENSG00000052126.14 . nonsynonymous SNV ENSG00000052126.14:ENST00000299275.10:exon10:c.A910T:p.I304F 12p12.3 C3L-02613 . . . . . . . . . 5.20 D D B B N D L T N 0.214 T T T 0.014 0.294 0.082 0.085 T T T T T D 1.940 18.800 0.419 D N -0.562 1.058 -0.461 1.266 1.000 0.732 0.588 0.744 0.563 . 5.300 1.070 0.683 -0.279 -0.050 0.715 0.982 0.980 786 . . . . PLEKHA5 186 1 148 107 0.419607843137255 TRUE TRUE ENSG00000133703.13 . BCM GRCh38.p13 chr12 25245350 25245350 + C C A Missense_Mutation SNP ENST00000256078.10 exon2 c.G35T p.G12V exonic ENSG00000133703.13 . nonsynonymous SNV ENSG00000133703.13:ENST00000256078.10:exon2:c.G35T:p.G12V 12p12.1 C3L-02613 . . . . . . . . rs121913529 18.20 D D D D D D L T D 0.939 D D D 0.910 0.767 0.989 2.351 D D D D D D 3.784 25.800 0.998 D D 0.948 12.354 0.902 13.818 1.000 0.732 0.710 0.744 0.632 . 5.680 5.680 7.892 1.010 0.580 1.000 1.000 1.000 707 Small_GTP-binding_protein_domain . . ID=COSV55497419;OCCURENCE=21(breast),1(female_genital_tract_(site_indeterminate)),7(liver),36(peritoneum),9(genital_tract),7(oesophagus),25(cervix),5747(large_intestine),1(central_nervous_system),189(biliary_tract),2(pleura),1(vulva),341(ovary),20(NS),45(stomach),96(haematopoietic_and_lymphoid_tissue),8(kidney),9(soft_tissue),32(urinary_tract),2142(pancreas),1(autonomic_ganglia),11(gastrointestinal_tract_(site_indeterminate)),30(skin),43(prostate),1580(lung),25(thyroid),5(upper_aerodigestive_tract),24(testis),1(eye),4(thymus),42(small_intestine),165(endometrium) KRAS 219 0 362 338 0.482857142857143 TRUE TRUE ENSG00000139209.16 . BCM GRCh38.p13 chr12 46777002 46777002 + C C T Missense_Mutation SNP ENST00000266579.9 exon13 c.G1076A p.R359Q exonic ENSG00000139209.16 . nonsynonymous SNV ENSG00000139209.16:ENST00000266579.9:exon13:c.G1076A:p.R359Q 12q13.11 C3L-02613 . . . . . . . . . 10.20 D T D D D D M T N 0.623 T T T 0.261 0.501 0.171 0.989 T T T T D D 3.650 25.200 0.999 D D 0.738 7.678 0.703 7.808 1.000 0.693 0.547 0.659 0.621 . 5.960 5.960 4.038 1.026 0.599 1.000 0.841 0.666 550 Amino_acid_transporter,_transmembrane_domain . . ID=COSV56969984;OCCURENCE=1(oesophagus) SLC38A4 171 0 154 154 0.5 TRUE TRUE ENSG00000139618.15 . BCM GRCh38.p13 chr13 32332274 32332274 + T T - Frame_Shift_Del DEL ENST00000380152.7 exon10 c.796delT p.F266Lfs*11 exonic ENSG00000139618.15 . frameshift deletion ENSG00000139618.15:ENST00000380152.7:exon10:c.796delT:p.F266Lfs*11 13q13.1 C3L-02613 . . . . . . . . rs886040739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BRCA2 93 0 39 35 0.472972972972973 TRUE NA ENSG00000179630.11 . BCM GRCh38.p13 chr13 43881521 43881521 + C C A Missense_Mutation SNP ENST00000325686.7 exon2 c.C536A p.T179N exonic ENSG00000179630.11 . nonsynonymous SNV ENSG00000179630.11:ENST00000325686.7:exon2:c.C536A:p.T179N 13q14.11 C3L-02613 . . . . . . . . . 4.20 T T P B N D M T N 0.261 T T T 0.078 0.397 0.560 0.386 T T T T D T 1.850 18.110 0.989 D N 0.300 3.779 0.327 3.880 1.000 0.615 0.588 0.668 0.655 . 5.870 4.080 0.968 1.026 0.599 1.000 0.998 0.994 889 . . . . LACC1 58 0 42 46 0.522727272727273 TRUE TRUE ENSG00000153498.12 . BCM GRCh38.p13 chr13 112398066 112398066 + G G C Missense_Mutation SNP ENST00000283550.8 exon3 c.G169C p.E57Q exonic ENSG00000153498.12 . nonsynonymous SNV ENSG00000153498.12:ENST00000283550.8:exon3:c.G169C:p.E57Q 13q34 C3L-02613 . . . . . . . . . 7.19 D D D D . N L T D 0.427 T T T 0.131 0.255 0.081 0.300 T T T T D T 3.674 25.300 0.993 D N 0.213 3.360 0.125 2.839 0.074 0.487 0.574 0.574 0.564 . 2.840 2.840 3.083 1.175 0.618 1.000 0.995 0.830 . . . . ID=COSV52098902;OCCURENCE=1(urinary_tract) SPACA7 149 0 187 25 0.117924528301887 NA TRUE ENSG00000198824.7 . BCM GRCh38.p13 chr13 114324977 114324977 + T T G Missense_Mutation SNP ENST00000361283.4 exon3 c.T1135G p.S379A exonic ENSG00000198824.7 . nonsynonymous SNV ENSG00000198824.7:ENST00000361283.4:exon3:c.T1135G:p.S379A 13q34 C3L-02613 . . . . . . . . . 2.20 T T P B N N M T N 0.124 T T T 0.063 0.344 0.393 0.462 T T T T D T 1.508 15.790 0.995 N N 0.056 2.717 0.053 2.550 1.000 0.707 0.702 0.702 0.714 . 5.920 4.760 0.280 1.138 0.665 0.082 0.998 0.916 946 . . . . CHAMP1 206 0 206 206 0.5 TRUE TRUE ENSG00000054654.18 . BCM GRCh38.p13 chr14 64056086 64056086 + C C G Missense_Mutation SNP ENST00000344113.8 exon49 c.C9887G p.P3296R exonic ENSG00000054654.18 . nonsynonymous SNV ENSG00000054654.18:ENST00000344113.8:exon49:c.C9887G:p.P3296R 14q23.2 C3L-02613 . . . . . . . . . 1.20 T D P B N N L T N 0.295 T T T 0.044 0.338 0.263 0.125 T T T T T T 0.489 6.393 0.961 N N -0.752 0.728 -0.801 0.756 0.509 0.707 0.725 0.659 0.636 . 5.270 2.480 0.188 0.129 0.549 0.000 0.000 0.008 621 . . . . SYNE2 209 0 418 31 0.0690423162583519 TRUE TRUE ENSG00000103932.12 . BCM GRCh38.p13 chr15 41531028 41531028 + G G A Missense_Mutation SNP ENST00000304330.9 exon7 c.C938T p.A313V exonic ENSG00000103932.12 . nonsynonymous SNV ENSG00000103932.12:ENST00000304330.9:exon7:c.C938T:p.A313V 15q15.1 C3L-02613 . . . . . . . . . 2.20 T T B B N D L T N 0.062 T T T 0.055 0.190 0.309 0.201 T T T T T T 1.185 13.510 0.978 D N -0.149 2.024 0.026 2.449 1.000 0.707 0.577 0.725 0.662 . 5.360 5.360 1.333 0.209 0.662 0.901 0.028 0.056 201 . . . . RPAP1 64 0 146 15 0.093167701863354 NA TRUE ENSG00000140279.13 . BCM GRCh38.p13 chr15 45101813 45101813 + C C A Missense_Mutation SNP ENST00000603300.1 exon21 c.G2831T p.G944V exonic ENSG00000140279.13 . nonsynonymous SNV ENSG00000140279.13:ENST00000603300.1:exon21:c.G2831T:p.G944V 15q21.1 C3L-02613 . . . . . . . . . 8.20 T D B B D D M T N 0.636 T T D 0.281 0.492 0.808 0.078 T T D T T T 1.393 15.030 0.983 D D 0.016 2.567 0.046 2.522 0.995 0.497 0.590 0.608 0.542 . 6.080 3.170 3.882 0.129 -0.171 1.000 0.647 0.648 592 . . . . DUOX2 260 1 466 179 0.277519379844961 TRUE TRUE ENSG00000138604.10 . BCM GRCh38.p13 chr15 69256205 69256225 + TGAGAAATATTTTGATGTTTA TGAGAAATATTTTGATGTTTA - In_Frame_Del DEL ENST00000261858.7 exon3 c.399_419del p.E134_Y140del exonic ENSG00000138604.10 . nonframeshift deletion ENSG00000138604.10:ENST00000261858.7:exon3:c.399_419del:p.E134_Y140del 15q23 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLCE 340 0 451 225 0.332840236686391 TRUE TRUE ENSG00000167971.16 . BCM GRCh38.p13 chr16 2187071 2187071 + C C A Missense_Mutation SNP ENST00000343516.8 exon9 c.G837T p.E279D exonic ENSG00000167971.16 . nonsynonymous SNV ENSG00000167971.16:ENST00000343516.8:exon9:c.G837T:p.E279D 16p13.3 C3L-02613 . . . . . . . . . 4.19 T T B B . D N T N 0.231 T T T 0.099 0.239 0.563 1.010 T T T T T D 1.720 17.160 0.829 D D -0.297 1.623 -0.091 2.074 0.983 0.646 0.588 0.645 0.605 . 4.810 4.810 0.623 0.130 -0.176 1.000 0.989 0.809 654 Ankyrin_repeat-containing_domain . . . CASKIN1 162 2 396 221 0.358184764991896 TRUE TRUE ENSG00000085644.14 . BCM GRCh38.p13 chr16 3140768 3140768 + C C G Missense_Mutation SNP ENST00000396878.8 exon6 c.C801G p.D267E exonic ENSG00000085644.14 . nonsynonymous SNV ENSG00000085644.14:ENST00000396878.8:exon6:c.C801G:p.D267E 16p13.3 C3L-02613 . . . . . . . . . 0.19 T T B B N N . T N 0.011 T T T 0.018 0.175 0.326 0.156 T T T T T T -0.974 0.009 0.331 N N -1.436 0.103 -1.429 0.137 0.009 0.651 0.709 0.645 0.636 . 4.790 -2.900 -2.090 -1.859 -0.491 0.000 0.002 0.001 744 Krueppel-associated_box . . . ZNF213 52 0 167 94 0.360153256704981 TRUE TRUE ENSG00000153446.15 . BCM GRCh38.p13 chr16 5044622 5044622 + T T G Missense_Mutation SNP ENST00000315997.5 exon8 c.A1170C p.R390S exonic ENSG00000153446.15 . nonsynonymous SNV ENSG00000153446.15:ENST00000315997.5:exon8:c.A1170C:p.R390S 16p13.3 C3L-02613 . . . . . . . . . 1.18 D T B B . N N T N 0.082 T T T 0.022 0.327 0.014 0.007 . T T T T T -0.307 0.301 0.211 N N -2.310 0.002 -2.351 0.002 0.999 0.713 0.588 0.609 0.542 . 0.235 -0.470 -2.243 -1.030 -1.316 0.000 0.003 0.060 862 . . . . C16orf89 102 0 354 114 0.243589743589744 TRUE TRUE ENSG00000103479.16 . BCM GRCh38.p13 chr16 53465568 53465568 + G G C Missense_Mutation SNP ENST00000262133.11 exon13 c.G1829C p.R610T exonic ENSG00000103479.16 . nonsynonymous SNV ENSG00000103479.16:ENST00000262133.11:exon13:c.G1829C:p.R610T 16q12.2 C3L-02613 8.314e-06 9.93e-05 0 0 0 0 0 0 rs369108451 13.20 D D D D D D M D N 0.407 D D D 0.475 . 0.740 0.371 T T T T T D 3.581 25.000 0.933 D N 0.138 3.041 0.162 3.005 0.999 0.732 0.744 0.744 0.677 . 4.990 3.020 2.046 1.176 0.676 0.989 1.000 0.998 429 . . . . RBL2 68 0 172 13 0.0702702702702703 TRUE NA ENSG00000177508.12 . BCM GRCh38.p13 chr16 54285986 54285986 + G G T Missense_Mutation SNP ENST00000329734.4 exon1 c.C65A p.A22D exonic ENSG00000177508.12 . nonsynonymous SNV ENSG00000177508.12:ENST00000329734.4:exon1:c.C65A:p.A22D 16q12.2 C3L-02613 . . . . . . . . . 3.19 T T B B . N N T N 0.278 T T D 0.038 0.151 0.342 . D T T T T T 1.795 17.700 0.885 D N -0.527 1.125 -0.513 1.181 1.000 0.598 0.590 0.608 0.639 . 3.020 2.050 2.049 0.993 0.337 1.000 0.973 0.720 942 . . . . IRX3 100 0 128 84 0.39622641509434 TRUE NA ENSG00000132604.11 . BCM GRCh38.p13 chr16 69366976 69366976 + C C G Missense_Mutation SNP ENST00000254942.8 exon7 c.G1171C p.E391Q exonic ENSG00000132604.11 . nonsynonymous SNV ENSG00000132604.11:ENST00000254942.8:exon7:c.G1171C:p.E391Q 16q22.1 C3L-02613 . . . . . . . . . 4.17 D T . . N D M . N 0.193 T T T 0.127 . 0.434 . T T T T T T 3.438 24.500 0.993 D N 0.077 2.795 0.254 3.461 1.000 0.707 0.725 0.725 0.714 . 6.070 6.070 2.386 1.026 0.599 1.000 0.902 0.913 168 . . . . TERF2 184 0 446 183 0.29093799682035 TRUE TRUE ENSG00000157368.10 . BCM GRCh38.p13 chr16 70660024 70660040 + AGGACTGTGAGGTGCCA AGGACTGTGAGGTGCCA - Frame_Shift_Del DEL ENST00000429149.6 exon7 c.566_582del p.D190Sfs*57 exonic ENSG00000157368.10 . frameshift deletion ENSG00000157368.10:ENST00000429149.6:exon7:c.566_582del:p.D190Sfs*57 16q22.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IL34 135 0 172 79 0.314741035856574 TRUE TRUE ENSG00000174231.17 . BCM GRCh38.p13 chr17 1654016 1654016 + A A C Missense_Mutation SNP ENST00000304992.11 exon38 c.T5988G p.N1996K exonic ENSG00000174231.17 . nonsynonymous SNV ENSG00000174231.17:ENST00000304992.11:exon38:c.T5988G:p.N1996K 17p13.3 C3L-02613 . . . . . . . . . 12.19 D T B B D D M D D 0.926 T D . 0.420 0.524 0.819 1.846 D D T T D D 1.708 17.080 0.997 D N -0.336 1.528 -0.364 1.438 0.972 0.707 0.702 0.698 0.714 . 6.170 -2.620 0.012 -0.043 0.756 0.912 0.949 0.476 631 PRP8_domain_IV_core . . . PRPF8 358 1 688 111 0.13892365456821 TRUE TRUE 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-02613 . . . . . . . . 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 483 0 549 457 0.45427435387674 TRUE TRUE ENSG00000278540.5 . BCM GRCh38.p13 chr17 37258365 37258365 + C C A Missense_Mutation SNP ENST00000614428.4 exon13 c.G1398T p.M466I exonic ENSG00000278540.5 . nonsynonymous SNV ENSG00000278540.5:ENST00000614428.4:exon13:c.G1398T:p.M466I 17q12 C3L-02613 . . . . . . . . . 15.16 . D D D D D M . . 0.741 D D D 0.955 0.681 0.897 . T D D D D . 3.692 25.400 0.998 D D 1.030 14.888 0.971 17.190 1.000 0.707 0.709 0.725 0.714 . 5.830 5.830 7.905 1.026 0.599 1.000 1.000 0.998 689 Biotin_carboxylation_domain;Carbamoyl-phosphate_synthetase_large_subunit-like,_ATP-binding_domain;ATP-grasp_fold . . . ACACA 196 0 277 99 0.263297872340426 TRUE TRUE ENSG00000012048.23 . BCM GRCh38.p13 chr17 43094779 43094779 + T T A Missense_Mutation SNP ENST00000357654.9 exon10 c.A752T p.K251M exonic ENSG00000012048.23 . nonsynonymous SNV ENSG00000012048.23:ENST00000357654.9:exon10:c.A752T:p.K251M 17q21.31 C3L-02613 . . . . . . . . . 14.20 D D D D N D M D D 0.549 T T D 0.519 0.199 0.905 0.521 T T D D D D 3.492 24.700 0.994 D N 0.077 2.797 0.073 2.626 1.000 0.707 0.725 0.725 0.636 . 4.640 4.640 1.531 1.138 0.609 0.987 0.969 0.535 494 . . . . BRCA1 74 0 130 48 0.269662921348315 TRUE TRUE ENSG00000186185.14 . BCM GRCh38.p13 chr17 44928050 44928050 + C C A Missense_Mutation SNP ENST00000593135.6 exon13 c.G2252T p.R751M exonic ENSG00000186185.14 . nonsynonymous SNV ENSG00000186185.14:ENST00000593135.6:exon13:c.G2252T:p.R751M 17q21.31 C3L-02613 . . . . . . . . . 1.16 . T B B . N . T . 0.329 T T D 0.113 0.258 0.431 0.313 T T T T T T 1.652 16.710 0.907 N N -0.828 0.614 -0.869 0.663 0.029 0.632 0.577 0.698 0.636 . 4.680 -1.640 0.161 -0.288 0.599 0.000 0.008 0.286 737 . . . . KIF18B 16 0 38 23 0.377049180327869 TRUE TRUE ENSG00000182742.6 . BCM GRCh38.p13 chr17 48578000 48578000 + C C A Missense_Mutation SNP ENST00000332503.6 exon1 c.G320T p.G107V exonic ENSG00000182742.6 . nonsynonymous SNV ENSG00000182742.6:ENST00000332503.6:exon1:c.G320T:p.G107V 17q21.32 C3L-02613 . . . . . . . . . 6.20 T T B B N D M T N 0.230 T T D 0.049 0.325 0.655 1.025 D D T T T T 2.278 21.400 0.928 D N -0.623 0.946 -0.568 1.096 1.000 0.598 0.569 0.596 0.492 . 3.380 2.290 0.798 0.943 0.441 0.665 0.991 0.954 654 . . . . HOXB4 12 0 10 8 0.444444444444444 TRUE TRUE ENSG00000154265.16 . BCM GRCh38.p13 chr17 69254338 69254356 + ACTTGCACTCATTCCTTTG ACTTGCACTCATTCCTTTG - Frame_Shift_Del DEL ENST00000392676.8 exon32 c.4203_4221del p.K1402Tfs*2 exonic ENSG00000154265.16 . frameshift deletion ENSG00000154265.16:ENST00000392676.8:exon32:c.4203_4221del:p.K1402Tfs*2 17q24.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ABCA5 97 0 111 61 0.354651162790698 TRUE TRUE ENSG00000167880.8 . BCM GRCh38.p13 chr17 76018954 76018954 + G G C Missense_Mutation SNP ENST00000301607.8 exon11 c.C1244G p.P415R exonic ENSG00000167880.8 . nonsynonymous SNV ENSG00000167880.8:ENST00000301607.8:exon11:c.C1244G:p.P415R 17q25.1 C3L-02613 . . . . . . . . . 11.20 D D P B D D M T D 0.466 T T D 0.267 0.154 0.791 0.477 T D T T D T 3.673 25.300 0.998 D D 0.444 4.630 0.452 4.747 0.998 0.581 0.574 0.576 0.613 . 5.030 5.030 7.425 1.176 0.618 1.000 0.317 0.876 701 SH3_domain . . . EVPL 33 0 117 52 0.307692307692308 TRUE TRUE ENSG00000101557.15 . BCM GRCh38.p13 chr18 199215 199215 + G G A Missense_Mutation SNP ENST00000261601.8 exon10 c.G775A p.E259K exonic ENSG00000101557.15 . nonsynonymous SNV ENSG00000101557.15:ENST00000261601.8:exon10:c.G775A:p.E259K 18p11.32 C3L-02613 . . . . . . . . . 13.20 D D D D N D M T D 0.777 T T D 0.506 0.388 0.418 1.675 T T D T D D 4.524 32 0.999 D D 0.975 13.144 0.936 15.389 1.000 0.707 0.725 0.702 0.742 . 5.730 5.730 9.341 0.218 0.604 1.000 0.998 0.993 558 Ubiquitin_specific_protease_domain;Peptidase_C19,_ubiquitin_carboxyl-terminal_hydrolase . . . USP14 124 0 245 73 0.229559748427673 TRUE TRUE ENSG00000082397.17 . BCM GRCh38.p13 chr18 5397109 5397109 + C C G Missense_Mutation SNP ENST00000341928.6 exon18 c.G2790C p.Q930H exonic ENSG00000082397.17 . nonsynonymous SNV ENSG00000082397.17:ENST00000341928.6:exon18:c.G2790C:p.Q930H 18p11.31 C3L-02613 . . . . . . . . . 1.20 T T B B N N L T N 0.194 T T T 0.048 0.083 0.582 0.149 T T T T T T 1.222 13.810 0.874 D N -0.351 1.493 -0.280 1.605 0.991 0.706 0.574 0.710 0.714 . 5.870 5.000 1.490 0.130 0.549 0.997 0.012 0.077 766 . . . . EPB41L3 103 0 121 230 0.655270655270655 TRUE TRUE ENSG00000101680.15 . BCM GRCh38.p13 chr18 6975011 6975011 + C C T Missense_Mutation SNP ENST00000389658.4 exon46 c.G6515A p.R2172Q exonic ENSG00000101680.15 . nonsynonymous SNV ENSG00000101680.15:ENST00000389658.4:exon46:c.G6515A:p.R2172Q 18p11.31 C3L-02613 8.486e-06 0 0 0 0 0 0 6.217e-05 rs746251281 6.20 D T B B N D L T D 0.469 T T D 0.211 0.556 0.704 0.207 T T T T D T 2.762 22.900 0.999 D N 0.034 2.634 0.142 2.911 0.003 0.719 0.574 0.723 0.564 . 5.380 4.500 1.866 1.018 0.589 0.918 0.710 0.806 872 Laminin_G_domain . . . LAMA1 144 0 244 106 0.302857142857143 TRUE NA ENSG00000134508.12 . BCM GRCh38.p13 chr18 23135913 23135913 + C C - Frame_Shift_Del DEL ENST00000256925.11 exon1 c.151delC p.R53Gfs*80 exonic ENSG00000134508.12 . frameshift deletion ENSG00000134508.12:ENST00000256925.11:exon1:c.151delC:p.R53Gfs*80 18q11.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CABLES1 21 0 33 4 0.108108108108108 NA TRUE ENSG00000179981.10 . BCM GRCh38.p13 chr18 75287248 75287248 + C C T Missense_Mutation SNP ENST00000580243.2 exon2 c.C1841T p.S614F exonic ENSG00000179981.10 . nonsynonymous SNV ENSG00000179981.10:ENST00000580243.2:exon2:c.C1841T:p.S614F 18q22.3 C3L-02613 . . . . . . . . . 3.20 D D B B N N M T N 0.251 T T T 0.040 0.345 0.342 0.608 T T T T T T 1.417 15.200 0.266 N N -0.886 0.538 -1.039 0.442 0.112 0.563 0.654 0.547 0.636 . 2.020 1.130 1.525 0.952 0.599 0.005 0.003 0.034 1000 . . . . TSHZ1 158 0 399 122 0.234165067178503 TRUE TRUE ENSG00000189001.11 . BCM GRCh38.p13 chr19 35527711 35527711 + C C A Nonsense_Mutation SNP ENST00000452271.7 exon1 c.G571T p.G191X exonic ENSG00000189001.11 . stopgain ENSG00000189001.11:ENST00000452271.7:exon1:c.G571T:p.G191X 19q13.12 C3L-02613 . . . . . . . . . 3.5 . . . . . D . . . 0.221 . . . . . . . . . D D . . 4.947 33 0.988 N N 0.429 4.529 0.085 2.674 0.939 0.549 0.627 0.590 0.542 . 4.100 4.100 1.410 0.959 0.594 0.003 0.004 0.003 835 . . . . SBSN 546 1 1059 370 0.258922323303009 TRUE TRUE ENSG00000105675.9 . BCM GRCh38.p13 chr19 35560485 35560485 + C C T Missense_Mutation SNP ENST00000262623.4 exon6 c.G665A p.C222Y exonic ENSG00000105675.9 . nonsynonymous SNV ENSG00000105675.9:ENST00000262623.4:exon6:c.G665A:p.C222Y 19q13.12 C3L-02613 . . . . . . . . . 19.20 D D D D D D L D D 0.856 D D D 0.874 0.578 0.994 1.796 D D D D D D 3.944 26.600 0.997 D D 0.740 7.716 0.655 6.994 1.000 0.549 0.588 0.590 0.542 . 4.160 4.160 6.117 1.025 0.547 1.000 1.000 0.997 814 . . . . ATP4A 239 0 619 239 0.278554778554779 TRUE TRUE ENSG00000196235.14 . BCM GRCh38.p13 chr19 39458834 39458836 + TGT TGT - In_Frame_Del DEL ENST00000432763.7 exon6 c.336_338del p.V114del exonic ENSG00000196235.14 . nonframeshift deletion ENSG00000196235.14:ENST00000432763.7:exon6:c.336_338del:p.V114del 19q13.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SUPT5H 65 0 111 44 0.283870967741935 TRUE TRUE ENSG00000224420.3 . BCM GRCh38.p13 chr19 49690239 49690239 + C C G Missense_Mutation SNP ENST00000420022.3 exon2 c.C208G p.R70G exonic ENSG00000224420.3 . nonsynonymous SNV ENSG00000224420.3:ENST00000420022.3:exon2:c.C208G:p.R70G 19q13.33 C3L-02613 . . . . . . . . . 3.18 D D P B . N N . D 0.148 T T T 0.034 0.284 0.076 1.256 T T T T T T 0.779 9.190 0.928 N N -0.889 0.534 -1.058 0.421 1.000 0.658 0.707 0.240 0.619 . 2.140 -0.566 -2.753 0.811 0.524 0.000 0.009 0.006 814 . . . . ADM5 222 0 498 179 0.264401772525849 TRUE TRUE ENSG00000105501.12 . BCM GRCh38.p13 chr19 51627924 51627924 + G G A Nonsense_Mutation SNP ENST00000429354.3 exon5 c.C907T p.R303X exonic ENSG00000105501.12;ENSG00000268500.5 . stopgain ENSG00000268500.5:ENST00000429354.3:exon5:c.C907T:p.R303X,ENSG00000105501.12:ENST00000534261.3:exon6:c.C907T:p.R303X 19q13.41 C3L-02613 0.0008 0.0002 0.0010 0 0.0032 0.0009 0.0033 0.0001 rs149130627 2.6 . . . . N A . . . 0.415 . . . . . . . . . T D . . 4.961 33 0.981 N N -0.384 1.418 -0.782 0.783 0.999 0.615 0.634 0.624 0.564 . 3.400 -1.480 -0.550 0.071 -0.119 0.000 0.000 0.000 982 Immunoglobulin_subtype_2;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . SIGLEC5 79 0 126 46 0.267441860465116 TRUE NA ENSG00000232388.5 . BCM GRCh38.p13 chr20 18569380 18569380 + C C T Missense_Mutation SNP ENST00000411646.2 exon2 c.C263T p.T88I exonic ENSG00000232388.5 . nonsynonymous SNV ENSG00000232388.5:ENST00000411646.2:exon2:c.C263T:p.T88I 20p11.23 C3L-02613 . . . . . . . . . 2.7 . D . . . N . . . 0.147 . . . . . 0.350 . . T T T . T 2.860 23.100 0.659 D . . . . . 0.908 0.732 0.725 0.710 0.728 0.766 5.320 4.340 0.924 -0.246 0.596 1.000 0.077 0.372 618 . . . . SMIM26 256 0 470 169 0.264475743348983 TRUE TRUE ENSG00000198547.9 . BCM GRCh38.p13 chr20 32651150 32651150 + C C A Translation_Start_Site SNP ENST00000608990.6 exon3 c.G3T p.M1? exonic ENSG00000198547.9 . startloss ENSG00000198547.9:ENST00000608990.6:exon3:c.G3T:p.M1? 20q11.21 C3L-02613 . . . . . . . . . 0.2 . . . . . . . . . . . . . . . . . . T . . . . 0.820 9.597 0.645 N . . . . . 0.997 0.054 0.061 0.045 0.057 0.084 0.722 -0.879 0.305 0.377 0.333 0.029 0.149 0.089 293 . . . . C20orf203 23 0 111 11 0.0901639344262295 TRUE NA ENSG00000185513.16 . BCM GRCh38.p13 chr20 43534013 43534013 + C C T Missense_Mutation SNP ENST00000427442.8 exon14 c.C1453T p.P485S exonic ENSG00000185513.16;ENSG00000288000.1 . nonsynonymous SNV ENSG00000185513.16:ENST00000427442.8:exon14:c.C1453T:p.P485S 20q13.12 C3L-02613 . . . . . . . . . 9.20 D D B B D D L T D 0.285 T T T 0.137 0.401 0.259 0.233 T T T T D D 2.904 23.200 0.999 D D 0.291 3.733 0.436 4.628 1.000 0.615 0.634 0.659 0.655 . 5.920 5.920 4.710 1.026 0.599 1.000 1.000 0.997 649 . . . . L3MBTL1 136 0 278 135 0.326876513317191 TRUE TRUE ENSG00000154645.14 . BCM GRCh38.p13 chr21 18262833 18262833 + C C A Missense_Mutation SNP ENST00000299295.7 exon5 c.C677A p.P226H exonic ENSG00000154645.14 . nonsynonymous SNV ENSG00000154645.14:ENST00000299295.7:exon5:c.C677A:p.P226H 21q21.1 C3L-02613 . . . . . . . . . 15.20 D D D D D D M T D 0.905 T T D 0.353 0.457 0.270 0.415 D T D T D D 3.536 24.800 0.996 D D 0.729 7.538 0.679 7.382 1.000 0.554 0.588 0.574 0.613 . 5.390 5.390 7.070 1.026 0.599 1.000 0.572 0.909 984 . . . . CHODL 172 0 248 77 0.236923076923077 TRUE TRUE ENSG00000211658.2 . BCM GRCh38.p13 chr22 22668615 22668615 + - NA A Nonsense_Mutation SNP ENST00000390304.2 exon2 c.149dupA p.Y50* exonic ENSG00000211658.2 . stopgain ENSG00000211658.2:ENST00000390304.2:exon2:c.149dupA:p.Y50* 22q11.22 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IGLV3-27 NA NA NA NA NA NA NA ENSG00000056487.16 . BCM GRCh38.p13 chr22 44891311 44891311 + G G T Missense_Mutation SNP ENST00000313237.10 exon8 c.C1010A p.A337E exonic ENSG00000056487.16 . nonsynonymous SNV ENSG00000056487.16:ENST00000313237.10:exon8:c.C1010A:p.A337E 22q13.31 C3L-02613 . . . . . . . . . 7.20 D T D P N N L T D 0.441 T T D 0.092 0.382 0.134 0.548 T T T T D D 3.344 24.200 0.992 D N 0.324 3.905 0.321 3.840 1.000 0.635 0.547 0.644 0.568 . 4.910 4.910 4.308 1.176 0.676 1.000 0.491 0.066 982 . . . . PHF21B 173 0 438 30 0.0641025641025641 TRUE TRUE ENSG00000169306.10 . BCM GRCh38.p13 chrX 29917596 29917596 + G G A Missense_Mutation SNP ENST00000378993.6 exon7 c.G911A p.R304K exonic ENSG00000169306.10 . nonsynonymous SNV ENSG00000169306.10:ENST00000378993.6:exon7:c.G911A:p.R304K Xp21.2 C3L-02613 . . . . . . . . . 6.19 T T B B D D N T N 0.086 T T D 0.108 0.598 0.725 0.860 T T T T D D 3.451 24.600 0.983 D . . . . . 1.000 . . . . . 5.780 5.780 7.288 1.175 0.676 1.000 0.998 0.899 821 Immunoglobulin_subtype_2;Immunoglobulin;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . IL1RAPL1 249 0 352 133 0.274226804123711 NA TRUE ENSG00000184675.11 . BCM GRCh38.p13 chrX 64190851 64190861 + AGCGATGTCAA AGCGATGTCAA - Nonsense_Mutation DEL ENST00000374869.8 exon2 c.2426_2436del p.F809* exonic ENSG00000184675.11 . stopgain ENSG00000184675.11:ENST00000374869.8:exon2:c.2426_2436del:p.F809* Xq11.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AMER1 242 0 501 149 0.229230769230769 TRUE TRUE ENSG00000147140.16 . BCM GRCh38.p13 chrX 71294339 71294339 + A A G Missense_Mutation SNP ENST00000276079.13 exon5 c.A461G p.N154S exonic ENSG00000147140.16 . nonsynonymous SNV ENSG00000147140.16:ENST00000276079.13:exon5:c.A461G:p.N154S Xq13.1 C3L-02613 . . . . . . . . . 9.19 D T P P D D M T D 0.834 T T D 0.389 0.651 0.896 2.287 T T T T D D 3.608 25.100 0.999 D . . . . . 1.000 . . . . . 4.660 4.660 9.203 1.197 0.747 1.000 1.000 0.996 526 RNA_recognition_motif_domain;p54nrb,_RNA_recognition_motif_2 . . . NONO 378 1 952 79 0.0766246362754607 NA TRUE ENSG00000102385.12 . BCM GRCh38.p13 chrX 101241918 101241918 + G G T Missense_Mutation SNP ENST00000395209.7 exon7 c.G810T p.E270D exonic ENSG00000102385.12 . nonsynonymous SNV ENSG00000102385.12:ENST00000395209.7:exon7:c.G810T:p.E270D Xq22.1 C3L-02613 . . . . . . . . . 3.19 T T B B N D N T N 0.157 T T D 0.135 0.457 0.355 0.367 T T T T T T 0.564 7.159 0.303 D . . . . . 0.263 . . . . . 5.290 -3.150 0.193 -0.140 0.676 0.975 0.997 0.998 124 . . . . DRP2 118 0 142 107 0.429718875502008 TRUE TRUE ENSG00000134594.5 . BCM GRCh38.p13 chrX 130184429 130184429 + T T A Missense_Mutation SNP ENST00000257017.5 exon2 c.T403A p.C135S exonic ENSG00000134594.5 . nonsynonymous SNV ENSG00000134594.5:ENST00000257017.5:exon2:c.T403A:p.C135S Xq26.1 C3L-02613 . . . . . . . . . 15.19 D D D D D D L T D 0.748 T T D 0.829 0.718 0.977 2.533 D D D D D D 3.781 25.700 0.994 D . . . . . 1.000 . . . . . 4.720 4.720 8.017 1.137 0.665 1.000 1.000 0.999 519 Small_GTP-binding_protein_domain . . . RAB33A 247 1 275 225 0.45 TRUE TRUE ENSG00000171806.12 . BCM GRCh38.p13 chr1 169793300 169793300 + C C T Silent SNP ENST00000310392.5 exon2 c.G396A p.V132V exonic ENSG00000171806.12 . synonymous SNV ENSG00000171806.12:ENST00000310392.5:exon2:c.G396A:p.V132V 1q24.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . METTL18 124 0 257 109 0.297814207650273 TRUE TRUE ENSG00000158089.15 . BCM GRCh38.p13 chr2 30958452 30958452 + G G A Silent SNP ENST00000349752.10 exon4 c.C411T p.R137R exonic ENSG00000158089.15 . synonymous SNV ENSG00000158089.15:ENST00000349752.10:exon4:c.C411T:p.R137R 2p23.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GALNT14 134 0 251 75 0.230061349693252 TRUE TRUE ENSG00000162881.6 . BCM GRCh38.p13 chr2 42762983 42762983 + C C T Silent SNP ENST00000378661.3 exon1 c.G1197A p.R399R exonic ENSG00000162881.6 . synonymous SNV ENSG00000162881.6:ENST00000378661.3:exon1:c.G1197A:p.R399R 2p21 C3L-02613 8.277e-06 0 0 0 0 1.509e-05 0 0 rs142162926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OXER1 181 0 464 220 0.321637426900585 TRUE NA ENSG00000138399.18 . BCM GRCh38.p13 chr2 169571799 169571799 + C C T Silent SNP ENST00000453153.7 exon2 c.G231A p.K77K exonic ENSG00000138399.18 . synonymous SNV ENSG00000138399.18:ENST00000453153.7:exon2:c.G231A:p.K77K 2q31.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV70006980;OCCURENCE=1(large_intestine) FASTKD1 129 0 258 65 0.201238390092879 TRUE TRUE ENSG00000163946.13 . BCM GRCh38.p13 chr3 56646562 56646562 + G G C Silent SNP ENST00000355628.9 exon14 c.C2175G p.A725A exonic ENSG00000163946.13 . synonymous SNV ENSG00000163946.13:ENST00000355628.9:exon14:c.C2175G:p.A725A 3p14.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TASOR 97 0 80 48 0.375 TRUE TRUE ENSG00000174948.6 . BCM GRCh38.p13 chr3 154337894 154337894 + C C A Silent SNP ENST00000389740.3 exon4 c.G2001T p.G667G exonic ENSG00000174948.6 . synonymous SNV ENSG00000174948.6:ENST00000389740.3:exon4:c.G2001T:p.G667G 3q25.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67668118;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) GPR149 73 0 179 49 0.214912280701754 TRUE TRUE ENSG00000180611.7 . BCM GRCh38.p13 chr3 192798650 192798650 + G G T Silent SNP ENST00000392452.3 exon2 c.C1212A p.R404R exonic ENSG00000180611.7 . synonymous SNV ENSG00000180611.7:ENST00000392452.3:exon2:c.C1212A:p.R404R 3q29 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MB21D2 146 0 758 167 0.180540540540541 TRUE TRUE ENSG00000163960.12 . BCM GRCh38.p13 chr3 196356700 196356700 + T T G Silent SNP ENST00000296328.9 exon11 c.A1455C p.V485V exonic ENSG00000163960.12 . synonymous SNV ENSG00000163960.12:ENST00000296328.9:exon11:c.A1455C:p.V485V 3q29 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBXN7 100 0 496 63 0.112701252236136 TRUE TRUE ENSG00000138823.13 . BCM GRCh38.p13 chr4 99591351 99591351 + G G A Silent SNP ENST00000457717.5 exon6 c.G618A p.Q206Q exonic ENSG00000138823.13 . synonymous SNV ENSG00000138823.13:ENST00000457717.5:exon6:c.G618A:p.Q206Q 4q23 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MTTP 212 0 318 145 0.31317494600432 TRUE NA ENSG00000113749.7 . BCM GRCh38.p13 chr5 175683572 175683572 + C C T Silent SNP ENST00000231683.3 exon1 c.C339T p.S113S exonic ENSG00000113749.7 . synonymous SNV ENSG00000113749.7:ENST00000231683.3:exon1:c.C339T:p.S113S 5q35.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HRH2 267 0 790 251 0.241114313160423 TRUE TRUE ENSG00000178187.7 . BCM GRCh38.p13 chr5 178946364 178946364 + G G A Silent SNP ENST00000320129.7 exon3 c.G39A p.S13S exonic ENSG00000178187.7 . synonymous SNV ENSG00000178187.7:ENST00000320129.7:exon3:c.G39A:p.S13S 5q35.3 C3L-02613 1.647e-05 0 0 0 0 2.997e-05 0 0 rs770644793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100194756;OCCURENCE=1(central_nervous_system) ZNF454 156 0 498 147 0.227906976744186 TRUE NA ENSG00000197226.12 . BCM GRCh38.p13 chr5 179870430 179870430 + G G A Silent SNP ENST00000356834.7 exon16 c.C2550T p.S850S exonic ENSG00000197226.12 . synonymous SNV ENSG00000197226.12:ENST00000356834.7:exon16:c.C2550T:p.S850S 5q35.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TBC1D9B 157 0 326 308 0.485804416403785 TRUE TRUE ENSG00000261272.1 . BCM GRCh38.p13 chr6 31025599 31025599 + T T G Silent SNP ENST00000561890.1 exon2 c.T168G p.T56T exonic ENSG00000261272.1 . synonymous SNV ENSG00000261272.1:ENST00000561890.1:exon2:c.T168G:p.T56T 6p21.33 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC22 139 0 346 62 0.151960784313725 TRUE TRUE ENSG00000173041.12 . BCM GRCh38.p13 chr7 64522184 64522184 + T T A Silent SNP ENST00000309683.11 exon4 c.A570T p.S190S exonic ENSG00000173041.12 . synonymous SNV ENSG00000173041.12:ENST00000309683.11:exon4:c.A570T:p.S190S 7q11.21 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF680 107 0 127 51 0.286516853932584 TRUE TRUE ENSG00000148082.10 . BCM GRCh38.p13 chr9 89042123 89042123 + T T A Silent SNP ENST00000375835.9 exon10 c.A1263T p.A421A exonic ENSG00000148082.10 . synonymous SNV ENSG00000148082.10:ENST00000375835.9:exon10:c.A1263T:p.A421A 9q22.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SHC3 83 0 130 53 0.289617486338798 TRUE TRUE ENSG00000169071.15 . BCM GRCh38.p13 chr9 91724145 91724145 + G G A Silent SNP ENST00000375708.4 exon9 c.C2349T p.N783N exonic ENSG00000169071.15 . synonymous SNV ENSG00000169071.15:ENST00000375708.4:exon9:c.C2349T:p.N783N 9q22.31 C3L-02613 4.132e-05 9.701e-05 0 0 0 3.008e-05 0 0.0001 rs761291207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100995391;OCCURENCE=1(large_intestine),1(stomach) ROR2 132 0 263 138 0.344139650872818 TRUE NA ENSG00000165124.18 . BCM GRCh38.p13 chr9 110472286 110472286 + G G A Silent SNP ENST00000374469.6 exon15 c.C2637T p.Y879Y exonic ENSG00000165124.18 . synonymous SNV ENSG00000165124.18:ENST00000374469.6:exon15:c.C2637T:p.Y879Y 9q31.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SVEP1 107 0 163 71 0.303418803418803 TRUE TRUE ENSG00000197859.11 . BCM GRCh38.p13 chr9 133554545 133554545 + A A C Silent SNP ENST00000651351.2 exon10 c.A1128C p.S376S exonic ENSG00000197859.11 . synonymous SNV ENSG00000197859.11:ENST00000651351.2:exon10:c.A1128C:p.S376S 9q34.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADAMTSL2 161 0 465 201 0.301801801801802 TRUE TRUE ENSG00000181371.4 . BCM GRCh38.p13 chr11 56490612 56490612 + G G T Silent SNP ENST00000327216.4 exon1 c.C759A p.T253T exonic ENSG00000181371.4 . synonymous SNV ENSG00000181371.4:ENST00000327216.4:exon1:c.C759A:p.T253T 11q12.1 C3L-02613 8.295e-06 0 0 0.0001 0 0 0 0 rs777315851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5M8 138 0 168 86 0.338582677165354 TRUE NA ENSG00000213593.10 . BCM GRCh38.p13 chr11 57739257 57739257 + T T G Silent SNP ENST00000278422.9 exon7 c.T741G p.S247S exonic ENSG00000213593.10 . synonymous SNV ENSG00000213593.10:ENST00000278422.9:exon7:c.T741G:p.S247S 11q12.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMX2 144 0 282 98 0.257894736842105 TRUE TRUE ENSG00000186513.3 . BCM GRCh38.p13 chr11 58190712 58190712 + G G A Silent SNP ENST00000641291.1 exon2 c.G222A p.S74S exonic ENSG00000186513.3 . synonymous SNV ENSG00000186513.3:ENST00000641291.1:exon2:c.G222A:p.S74S 11q12.1 C3L-02613 0 0 0 0 0 0 0 0 rs760143408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61113093;OCCURENCE=1(stomach),1(thyroid) OR9Q2 163 0 380 125 0.247524752475248 TRUE TRUE ENSG00000169884.14 . BCM GRCh38.p13 chr12 48970129 48970129 + G G A Silent SNP ENST00000301061.9 exon3 c.C297T p.G99G exonic ENSG00000169884.14 . synonymous SNV ENSG00000169884.14:ENST00000301061.9:exon3:c.C297T:p.G99G 12q13.12 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . WNT10B 79 0 118 132 0.528 TRUE TRUE ENSG00000187857.4 . BCM GRCh38.p13 chr12 55365767 55365767 + C C A Silent SNP ENST00000641576.1 exon3 c.C657A p.I219I exonic ENSG00000187857.4 . synonymous SNV ENSG00000187857.4:ENST00000641576.1:exon3:c.C657A:p.I219I 12q13.2 C3L-02613 8.243e-06 0 0 0 0 1.499e-05 0 0 rs375544134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100595436;OCCURENCE=1(endometrium) OR6C75 228 0 218 207 0.487058823529412 TRUE NA ENSG00000111087.10 . BCM GRCh38.p13 chr12 57465832 57465832 + A A G Silent SNP ENST00000228682.7 exon7 c.A669G p.R223R exonic ENSG00000111087.10 . synonymous SNV ENSG00000111087.10:ENST00000228682.7:exon7:c.A669G:p.R223R 12q13.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GLI1 172 0 180 162 0.473684210526316 TRUE TRUE ENSG00000090975.12 . BCM GRCh38.p13 chr12 122987391 122987391 + C C G Silent SNP ENST00000320201.8 exon22 c.G3303C p.L1101L exonic ENSG00000090975.12 . synonymous SNV ENSG00000090975.12:ENST00000320201.8:exon22:c.G3303C:p.L1101L 12q24.31 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PITPNM2 164 0 196 171 0.465940054495913 TRUE TRUE ENSG00000074803.20 . BCM GRCh38.p13 chr15 48291829 48291829 + C C T Silent SNP ENST00000380993.8 exon24 c.C2925T p.I975I exonic ENSG00000074803.20 . synonymous SNV ENSG00000074803.20:ENST00000380993.8:exon24:c.C2925T:p.I975I 15q21.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC12A1 143 0 241 68 0.220064724919094 TRUE TRUE ENSG00000153443.13 . BCM GRCh38.p13 chr16 4609740 4609740 + G G A Silent SNP ENST00000283474.12 exon3 c.C427T p.L143L exonic ENSG00000153443.13 . synonymous SNV ENSG00000153443.13:ENST00000283474.12:exon3:c.C427T:p.L143L 16p13.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UBALD1 10 0 25 9 0.264705882352941 TRUE TRUE ENSG00000140623.14 . BCM GRCh38.p13 chr16 4777962 4777962 + G G A Silent SNP ENST00000268231.13 exon10 c.C912T p.N304N exonic ENSG00000140623.14 . synonymous SNV ENSG00000140623.14:ENST00000268231.13:exon10:c.C912T:p.N304N 16p13.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SEPTIN12 170 0 382 174 0.31294964028777 TRUE TRUE ENSG00000184857.8 . BCM GRCh38.p13 chr16 8796243 8796243 + C C G Silent SNP ENST00000333050.7 exon2 c.G351C p.L117L exonic ENSG00000184857.8 . synonymous SNV ENSG00000184857.8:ENST00000333050.7:exon2:c.G351C:p.L117L 16p13.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM186 214 0 452 173 0.2768 TRUE TRUE ENSG00000168447.11 . BCM GRCh38.p13 chr16 23380780 23380780 + C C T Silent SNP ENST00000343070.7 exon13 c.C1902T p.D634D exonic ENSG00000168447.11 . synonymous SNV ENSG00000168447.11:ENST00000343070.7:exon13:c.C1902T:p.D634D 16p12.2 C3L-02613 . . . . . . . . rs995687895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SCNN1B 168 0 432 56 0.114754098360656 TRUE NA ENSG00000167889.12 . BCM GRCh38.p13 chr17 76926660 76926660 + C C G Silent SNP ENST00000569840.6 exon10 c.C1221G p.A407A exonic ENSG00000167889.12 . synonymous SNV ENSG00000167889.12:ENST00000569840.6:exon10:c.C1221G:p.A407A 17q25.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MGAT5B 147 0 372 103 0.216842105263158 TRUE TRUE ENSG00000186818.12 . BCM GRCh38.p13 chr19 54664220 54664220 + G G A Silent SNP ENST00000391733.7 exon4 c.G390A p.P130P exonic ENSG00000186818.12 . synonymous SNV ENSG00000186818.12:ENST00000391733.7:exon4:c.G390A:p.P130P 19q13.42 C3L-02613 8.266e-06 0 0 0 0 1.502e-05 0 0 rs372420039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54406424;OCCURENCE=1(large_intestine) LILRB4 128 0 229 187 0.449519230769231 TRUE TRUE ENSG00000101161.8 . BCM GRCh38.p13 chr20 63999098 63999098 + G G A Silent SNP ENST00000266079.5 exon7 c.G825A p.T275T exonic ENSG00000101161.8 . synonymous SNV ENSG00000101161.8:ENST00000266079.5:exon7:c.G825A:p.T275T 20q13.33 C3L-02613 8.447e-06 0.0001 0 0 0 0 0 0 rs201487454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PRPF6 226 1 447 203 0.312307692307692 TRUE NA ENSG00000169548.3 . BCM GRCh38.p13 chr22 22515073 22515073 + T T A Silent SNP ENST00000302097.3 exon2 c.A558T p.G186G exonic ENSG00000169548.3 . synonymous SNV ENSG00000169548.3:ENST00000302097.3:exon2:c.A558T:p.G186G 22q11.22 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF280A 177 0 428 40 0.0854700854700855 TRUE TRUE ENSG00000181798.3 . BCM GRCh38.p13 chr2 231509270 231509270 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000181798.3 . . . 2q37.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LINC00471 191 0 419 186 0.307438016528926 TRUE NA ENSG00000245317.2 . BCM GRCh38.p13 chr5 179860595 179860595 + A A C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000245317.2 . . . 5q35.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC008393.1 220 0 724 70 0.0881612090680101 TRUE NA ENSG00000124721.18 . BCM GRCh38.p13 chr6 38722836 38722836 + C C G 5'Flank SNP NA NA NA NA upstream ENSG00000124721.18 dist=286 . . 6p21.2 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DNAH8 63 0 205 54 0.208494208494208 TRUE TRUE ENSG00000122852.15 . BCM GRCh38.p13 chr10 79611631 79611631 + C C T Intron SNP NA NA NA NA intronic ENSG00000122852.15 . . . 10q22.3 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SFTPA1 87 0 100 80 0.444444444444444 NA TRUE ENSG00000177359.20 . BCM GRCh38.p13 chr12 31136138 31136138 + A A T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000177359.20 . . . 12p11.21 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC024940.2 230 0 289 136 0.32 NA TRUE ENSG00000258365.1 . BCM GRCh38.p13 chr12 94279766 94279779 + CAGCCAGGTTGTTC CAGCCAGGTTGTTC - RNA DEL NA NA NA NA ncRNA_exonic ENSG00000258365.1 . . . 12q22 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC073655.2 175 0 181 65 0.264227642276423 TRUE NA ENSG00000073910.22 . BCM GRCh38.p13 chr13 32287873 32287873 + G G T Intron SNP NA NA NA NA intronic ENSG00000073910.22 . . . 13q13.1 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FRY 60 0 63 39 0.382352941176471 TRUE NA ENSG00000287385.1 . BCM GRCh38.p13 chr14 68611157 68611157 + G G C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000287385.1 . . . 14q24.1 C3L-02613 . . . . . . . . . 0.17 T T B B . N . T N 0.098 T T T 0.053 0.315 0.085 . . T T T T T 0.634 7.837 0.216 N N -0.939 0.473 -1.051 0.428 1.000 0.554 0.588 0.574 0.568 . 2.870 -0.439 1.121 1.160 0.655 0.009 0.005 0.003 511 . . . . AL121820.3 329 1 882 54 0.0576923076923077 TRUE TRUE ENSG00000214941.8 . BCM GRCh38.p13 chr17 15999627 15999627 + G G A 5'UTR SNP NA NA NA NA UTR5 ENSG00000214941.8 ENST00000399277.6:c.-33C>T . . 17p12 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZSWIM7 283 0 366 336 0.478632478632479 TRUE NA ENSG00000184922.14 . BCM GRCh38.p13 chr17 45246355 45246355 + C C G Intron SNP NA NA NA NA intronic ENSG00000184922.14 . . . 17q21.31 C3L-02613 . . . . . . . . . 1.9 . D . . . N . T . . . . . . . 0.506 . . T T T . T 0.235 3.531 0.649 N N . . . . 1.000 0.722 0.699 0.615 0.639 . 3.300 0.844 0.727 0.053 -0.319 0.000 0.001 0.002 463 . . . . FMNL1 162 0 447 28 0.0589473684210526 TRUE TRUE ENSG00000131943.18 . BCM GRCh38.p13 chr19 29705352 29705352 + G G A Intron SNP NA NA NA NA intronic ENSG00000131943.18 . . . 19q12 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C19orf12 105 0 118 49 0.293413173652695 TRUE NA ENSG00000176029.14 . BCM GRCh38.p13 chr11 8925852 8925853 + GC GC AT Unknown MNP ENST00000326053.10 exon5 c.814_815delinsAT p.A272I exonic ENSG00000176029.14 . nonframeshift substitution ENSG00000176029.14:ENST00000326053.10:exon5:c.814_815delinsAT:p.A272I 11p15.4 C3L-02613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C11orf16 241 0 501 168 0.251121076233184 TRUE TRUE ENSG00000143669.14 . BCM GRCh38.p13 chr1 235788702 235788702 + G G A Missense_Mutation SNP ENST00000389793.7 exon13 c.C4687T p.R1563C exonic ENSG00000143669.14 . nonsynonymous SNV ENSG00000143669.14:ENST00000389793.7:exon13:c.C4687T:p.R1563C 1q42.3 C3N-01012 8.439e-06 0 0 0 0 1.539e-05 0 0 rs749045467 16.20 D D D P N D M T D 0.932 D D D 0.709 0.749 0.821 . T D D D D D 5.279 33 0.999 D D 0.691 6.994 0.693 7.619 0.988 0.615 0.588 0.574 0.655 . 5.620 5.620 5.114 1.176 0.676 1.000 1.000 0.997 846 . . . ID=COSV67710457;OCCURENCE=1(large_intestine) LYST 258 1 480 33 0.064327485380117 TRUE TRUE ENSG00000178568.15 . BCM GRCh38.p13 chr2 212124891 212124891 + G G A Missense_Mutation SNP ENST00000342788.9 exon2 c.C95T p.T32M exonic ENSG00000178568.15 . nonsynonymous SNV ENSG00000178568.15:ENST00000342788.9:exon2:c.C95T:p.T32M 2q34 C3N-01012 . . . . . . . . . 19.20 D D D D D D M T D 0.769 D D D 0.795 0.684 0.857 0.918 D D D D D D 3.849 26.100 0.999 D D 0.856 9.979 0.846 11.617 1.000 0.487 0.574 0.547 0.632 . 5.280 5.280 9.938 1.176 0.676 1.000 1.000 0.997 801 . . . ID=COSV53593488;OCCURENCE=1(large_intestine) ERBB4 304 0 609 35 0.0543478260869565 TRUE NA ENSG00000163359.16 . BCM GRCh38.p13 chr2 237394887 237394887 + G G A Missense_Mutation SNP ENST00000295550.9 exon3 c.C409T p.R137W exonic ENSG00000163359.16 . nonsynonymous SNV ENSG00000163359.16:ENST00000295550.9:exon3:c.C409T:p.R137W 2q37.3 C3N-01012 2.474e-05 0.0002 0 0 0 1.501e-05 0 0 rs143819673 18.20 D D D D U D H D D 0.795 D D D 0.896 . 0.945 0.660 T D D D D D 4.378 31 0.975 D D 0.699 7.103 0.613 6.384 1.000 0.487 0.590 0.574 0.479 . 4.930 3.980 3.349 1.176 0.676 1.000 0.998 0.996 937 von_Willebrand_factor,_type_A . . . COL6A3 68 0 117 14 0.106870229007634 TRUE NA ENSG00000145949.11 . BCM GRCh38.p13 chr6 2685322 2685322 + C C A Missense_Mutation SNP ENST00000274643.9 exon6 c.G519T p.K173N exonic ENSG00000145949.11 . nonsynonymous SNV ENSG00000145949.11:ENST00000274643.9:exon6:c.G519T:p.K173N 6p25.2 C3N-01012 . . . . . . . . . 3.20 T T B B N D N T D 0.388 T T T 0.058 0.441 0.241 0.231 T T T T T T 2.695 22.800 0.994 D N -0.308 1.595 -0.160 1.886 1.000 0.554 0.574 0.618 0.568 . 5.630 4.760 1.537 1.010 0.580 1.000 0.882 0.796 853 Protein_kinase_domain . . . MYLK4 94 0 205 14 0.0639269406392694 TRUE TRUE ENSG00000135355.4 . BCM GRCh38.p13 chr6 89894637 89894637 + C C T Missense_Mutation SNP ENST00000369352.1 exon1 c.C169T p.R57W exonic ENSG00000135355.4 . nonsynonymous SNV ENSG00000135355.4:ENST00000369352.1:exon1:c.C169T:p.R57W 6q15 C3N-01012 5.767e-05 0 0 0.0001 0 0 0 0.0004 rs548704385 14.20 D D D P N N L D D 0.288 D D D 0.603 0.610 0.972 0.218 T D T D D D 3.993 26.900 0.999 D D 0.621 6.140 0.603 6.258 0.916 0.497 0.590 0.547 0.613 . 4.800 4.800 4.605 0.947 0.599 1.000 0.990 0.993 644 Connexin,_conserved_site;Connexin,_N-terminal . . . GJA10 170 0 335 20 0.0563380281690141 TRUE NA ENSG00000181072.11 . BCM GRCh38.p13 chr7 137016138 137016138 + G G A Missense_Mutation SNP ENST00000445907.6 exon3 c.G1273A p.G425S exonic ENSG00000181072.11 . nonsynonymous SNV ENSG00000181072.11:ENST00000445907.6:exon3:c.G1273A:p.G425S 7q33 C3N-01012 . . . . . . . . . 16.20 D D D D D D M T D 0.827 T T D 0.610 0.553 0.966 1.505 D T D D D D 4.177 28.400 0.998 D D 0.712 7.290 0.740 8.563 1.000 0.487 0.574 0.574 0.564 . 5.810 5.810 9.940 1.176 0.618 1.000 0.989 0.962 833 GPCR,_rhodopsin-like,_7TM . . . CHRM2 120 0 172 20 0.104166666666667 TRUE TRUE ENSG00000132549.18 . BCM GRCh38.p13 chr8 99143057 99143057 + A A G Missense_Mutation SNP ENST00000358544.6 exon13 c.A1735G p.I579V exonic ENSG00000132549.18 . nonsynonymous SNV ENSG00000132549.18:ENST00000358544.6:exon13:c.A1735G:p.I579V 8q22.2 C3N-01012 1.648e-05 0 0 0 0 2.997e-05 0 0 rs750419805 2.20 T T B B N D N T N 0.128 T T T 0.049 . 0.331 0.101 T T T T T T 0.997 11.580 0.460 D N -0.581 1.022 -0.383 1.403 0.935 0.638 0.634 0.653 0.646 . 5.430 1.370 1.651 1.312 0.691 1.000 1.000 0.997 767 . . . ID=COSV100662337;OCCURENCE=1(lung) VPS13B 224 0 369 36 0.0888888888888889 TRUE NA ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971112 21971112 + G G A Missense_Mutation SNP ENST00000304494.9 exon2 c.C247T p.H83Y exonic ENSG00000147889.17 . nonsynonymous SNV ENSG00000147889.17:ENST00000304494.9:exon2:c.C247T:p.H83Y 9p21.3 C3N-01012 . . . . . . . . rs121913385 14.18 D D D D . D . T D 0.922 T T D 0.804 0.752 0.994 1.310 T D D D D D 4.439 31 0.999 D D 0.754 7.946 0.801 10.158 1.000 0.677 0.383 0.608 0.601 . 5.930 5.930 9.231 1.176 0.676 1.000 0.843 0.926 900 Ankyrin_repeat-containing_domain . . ID=COSV58682852;OCCURENCE=1(salivary_gland),10(breast),7(penis),7(liver),10(oesophagus),2(large_intestine),5(central_nervous_system),5(biliary_tract),4(ovary),2(vulva),4(haematopoietic_and_lymphoid_tissue),2(stomach),3(soft_tissue),6(urinary_tract),25(pancreas),5(skin),14(lung),11(upper_aerodigestive_tract) CDKN2A 631 0 1244 123 0.0899780541331383 NA TRUE ENSG00000180263.14 . BCM GRCh38.p13 chr12 95089642 95089642 + C C T Missense_Mutation SNP ENST00000343958.9 exon18 c.G3905A p.S1302N exonic ENSG00000180263.14 . nonsynonymous SNV ENSG00000180263.14:ENST00000343958.9:exon18:c.G3905A:p.S1302N 12q22 C3N-01012 . . . . . . . . . 6.20 D T P P D D M T N 0.320 T T T 0.072 0.206 0.636 0.220 T T T T D T 2.314 21.700 0.992 D N 0.264 3.601 0.378 4.207 0.998 0.707 0.659 0.725 0.714 . 5.660 5.660 2.683 1.015 0.599 1.000 1.000 0.998 936 . . . . FGD6 140 0 285 16 0.053156146179402 TRUE TRUE ENSG00000135124.14 . BCM GRCh38.p13 chr12 121210249 121210249 + G G A Missense_Mutation SNP ENST00000337233.8 exon1 c.G85A p.G29R exonic ENSG00000135124.14 . nonsynonymous SNV ENSG00000135124.14:ENST00000337233.8:exon1:c.G85A:p.G29R 12q24.31 C3N-01012 . . . . . . . . . 15.20 D D D D N D H T D 0.771 T T D 0.682 0.916 0.786 1.127 D T D D D D 4.307 29.600 0.998 D D 0.766 8.155 0.647 6.865 1.000 0.442 0.522 0.520 0.562 . 3.870 3.870 4.993 1.042 0.513 1.000 1.000 0.997 525 . . . . P2RX4 223 1 565 47 0.076797385620915 TRUE NA ENSG00000080618.16 . BCM GRCh38.p13 chr13 46073949 46073949 + T T C Missense_Mutation SNP ENST00000181383.10 exon6 c.A515G p.N172S exonic ENSG00000080618.16 . nonsynonymous SNV ENSG00000080618.16:ENST00000181383.10:exon6:c.A515G:p.N172S 13q14.13 C3N-01012 . . . . . . . . . 1.20 T T B B N N L T N 0.091 T T T 0.033 0.555 0.316 0.306 T T T T T T 1.593 16.330 0.986 D N -0.415 1.351 -0.255 1.660 0.970 0.487 0.547 0.574 0.542 . 5.170 2.650 0.877 1.138 0.665 1.000 1.000 0.997 602 Carboxypeptidase_B2;Peptidase_M14,_carboxypeptidase_A . . . CPB2 54 0 99 7 0.0660377358490566 TRUE TRUE ENSG00000103994.17 . BCM GRCh38.p13 chr15 42439309 42439316 + GTGGAGGT GTGGAGGT - Frame_Shift_Del DEL ENST00000263805.8 exon8 c.4192_4199del p.T1398Lfs*16 exonic ENSG00000103994.17 . frameshift deletion ENSG00000103994.17:ENST00000263805.8:exon8:c.4192_4199del:p.T1398Lfs*16 15q15.1 C3N-01012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF106 174 0 363 22 0.0571428571428571 NA TRUE ENSG00000136378.15 . BCM GRCh38.p13 chr15 78796723 78796723 + C C T Missense_Mutation SNP ENST00000388820.5 exon4 c.G686A p.R229Q exonic ENSG00000136378.15 . nonsynonymous SNV ENSG00000136378.15:ENST00000388820.5:exon4:c.G686A:p.R229Q 15q25.1 C3N-01012 9.111e-06 0 0 0 0 1.695e-05 0 0 rs772813306 1.20 T T B B N N L T N 0.223 T T D 0.051 0.257 0.453 0.227 T T T T T T 1.005 11.680 0.950 N N -0.839 0.600 -0.861 0.673 0.997 0.696 0.574 0.723 0.636 . 4.640 2.290 3.070 0.847 0.596 0.093 0.003 0.002 532 . . . . ADAMTS7 269 0 550 38 0.0646258503401361 TRUE NA ENSG00000140983.14 . BCM GRCh38.p13 chr16 670127 670127 + G G A Missense_Mutation SNP ENST00000315082.9 exon6 c.G281A p.R94Q exonic ENSG00000140983.14 . nonsynonymous SNV ENSG00000140983.14:ENST00000315082.9:exon6:c.G281A:p.R94Q 16p13.3 C3N-01012 4.425e-05 0 0 0.0003 0 1.577e-05 0 8.158e-05 rs576916494 5.20 T T P P D D L T N 0.505 T T D 0.324 0.444 0.885 0.239 T T T T T D 3.209 23.900 0.907 D N 0.346 4.025 0.401 4.363 1.000 0.707 0.698 0.725 0.714 . 5.070 5.070 4.452 1.083 0.676 1.000 0.997 0.659 645 MIRO_domain;Small_GTP-binding_protein_domain . . . RHOT2 63 0 126 10 0.0735294117647059 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7675201 7675207 + CAGTTGG CAGTTGG - Frame_Shift_Del DEL ENST00000269305.8 exon5 c.405_411del p.C135Wfs*33 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon5:c.405_411del:p.C135Wfs*33 17p13.1 C3N-01012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 240 0 513 40 0.0723327305605787 TRUE TRUE ENSG00000007174.18 . BCM GRCh38.p13 chr17 11669136 11669136 + C C T Missense_Mutation SNP ENST00000262442.9 exon16 c.C2804T p.P935L exonic ENSG00000007174.18 . nonsynonymous SNV ENSG00000007174.18:ENST00000262442.9:exon16:c.C2804T:p.P935L 17p12 C3N-01012 8.247e-06 9.632e-05 0 0 0 0 0 0 rs556779874 12.19 T . D P D D H T D 0.988 T T D 0.570 0.588 0.756 0.470 T T D D D D 3.081 23.600 0.997 D D 0.588 5.801 0.468 4.880 1.000 0.487 0.574 0.233 0.564 . 5.410 5.410 7.539 1.026 0.599 1.000 0.784 0.584 854 . . . ID=COSV52331561;OCCURENCE=1(breast),1(ovary),2(pancreas) DNAH9 85 0 168 12 0.0666666666666667 TRUE TRUE ENSG00000171431.4 . BCM GRCh38.p13 chr17 40884840 40884840 + C C A Missense_Mutation SNP ENST00000167588.4 exon1 c.G346T p.D116Y exonic ENSG00000171431.4 . nonsynonymous SNV ENSG00000171431.4:ENST00000167588.4:exon1:c.G346T:p.D116Y 17q21.2 C3N-01012 . . . . . . . . . 19.20 D D D D D D H D D 0.865 D D D 0.766 0.698 0.966 1.079 T D D D D D 3.296 24.100 0.992 D D 0.844 9.712 0.707 7.877 1.000 0.497 0.590 0.547 0.530 . 5.500 5.500 5.873 1.026 0.599 1.000 0.060 0.058 105 Intermediate_filament,_rod_domain . . . KRT20 134 0 251 33 0.116197183098592 TRUE TRUE ENSG00000142449.13 . BCM GRCh38.p13 chr19 8131716 8131716 + C C T Missense_Mutation SNP ENST00000600128.6 exon15 c.G1828A p.V610M exonic ENSG00000142449.13 . nonsynonymous SNV ENSG00000142449.13:ENST00000600128.6:exon15:c.G1828A:p.V610M 19p13.2 C3N-01012 . . . . . . . . rs375756610 4.20 T D B B N N N D N 0.177 T D D 0.315 . 0.393 0.203 T T T T T T -0.958 0.010 0.859 N N -1.582 0.059 -1.721 0.047 0.001 0.696 0.547 0.723 0.613 . 3.020 -4.140 0.128 -1.247 -2.241 0.006 0.000 0.000 934 EGF-like_domain;EGF-like_calcium-binding_domain . . ID=COSV54456688;OCCURENCE=1(liver),1(pancreas) FBN3 261 0 598 64 0.0966767371601208 TRUE TRUE ENSG00000171223.6 . BCM GRCh38.p13 chr19 12792600 12792600 + C C T Missense_Mutation SNP ENST00000302754.6 exon1 c.C829T p.R277W exonic ENSG00000171223.6 . nonsynonymous SNV ENSG00000171223.6:ENST00000302754.6:exon1:c.C829T:p.R277W 19p13.13 C3N-01012 . . . . . . . . . 14.19 D D D D U D H T D 0.734 T T D 0.638 0.708 0.791 . D T D D D D 4.225 28.900 0.999 D . 0.520 5.191 0.353 4.041 1.000 0.442 0.522 0.474 0.373 . 3.720 2.650 0.268 0.938 0.589 0.981 1.000 1.000 520 Basic-leucine_zipper_domain . . . JUNB 332 0 740 79 0.0964590964590965 TRUE TRUE ENSG00000127527.14 . BCM GRCh38.p13 chr19 16418055 16418055 + C C A Missense_Mutation SNP ENST00000248070.10 exon11 c.G1000T p.A334S exonic ENSG00000127527.14 . nonsynonymous SNV ENSG00000127527.14:ENST00000248070.10:exon11:c.G1000T:p.A334S 19p13.11 C3N-01012 . . . . . . . . . 5.20 T T P P D D L T N 0.407 T T T 0.090 0.394 0.277 0.632 T T T T D D 2.732 22.900 0.994 D N 0.070 2.769 0.104 2.749 1.000 0.713 0.672 0.780 0.692 . 4.450 4.450 1.995 0.947 0.599 1.000 0.992 0.994 964 EF-hand_domain;EH_domain . . . EPS15L1 124 0 333 26 0.0724233983286908 TRUE TRUE ENSG00000179954.16 . BCM GRCh38.p13 chr19 55489497 55489497 + G G A Missense_Mutation SNP ENST00000389623.11 exon3 c.G196A p.A66T exonic ENSG00000179954.16 . nonsynonymous SNV ENSG00000179954.16:ENST00000389623.11:exon3:c.G196A:p.A66T 19q13.42 C3N-01012 . . . . . . . . . 10.20 D D D D N D M T D 0.400 T T D 0.423 0.772 0.672 0.109 D T T T D T 3.412 24.400 0.999 N N 0.290 3.727 0.137 2.892 1.000 0.609 0.514 0.769 0.568 . 3.930 3.930 2.276 1.089 0.498 0.708 0.362 0.117 970 SRCR_domain;SRCR-like_domain . . . SSC5D 114 0 244 16 0.0615384615384615 TRUE NA ENSG00000165194.15 . BCM GRCh38.p13 chrX 100402795 100402795 + C C A Missense_Mutation SNP ENST00000373034.8 exon3 c.G2345T p.S782I exonic ENSG00000165194.15 . nonsynonymous SNV ENSG00000165194.15:ENST00000373034.8:exon3:c.G2345T:p.S782I Xq22.1 C3N-01012 . . . . . . . . . 9.19 D D P P D D N T D 0.498 T T D 0.147 0.326 0.537 0.752 T T T T D D 2.590 22.600 0.995 D . . . . . 0.999 . . . . . 5.940 3.860 2.482 1.026 0.597 1.000 1.000 1.000 167 . . . . PCDH19 145 0 236 45 0.160142348754448 TRUE TRUE ENSG00000108443.14 . BCM GRCh38.p13 chr17 59934168 59934168 + A A C Splice_Site SNP NA NA NA NA splicing ENSG00000108443.14 ENST00000225577.9:exon8:c.689-2A>C . . 17q23.1 C3N-01012 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.350 34 0.980 D . 1.032 14.962 0.863 12.252 0.220 0.164 0.157 0.232 0.221 0.862 5.320 4.250 8.888 1.215 0.653 1.000 1.000 0.997 305 . . . . RPS6KB1 85 0 182 12 0.0618556701030928 NA TRUE ENSG00000163531.15 . BCM GRCh38.p13 chr1 204954299 204954299 + G G A Silent SNP ENST00000339876.10 exon6 c.G327A p.P109P exonic ENSG00000163531.15 . synonymous SNV ENSG00000163531.15:ENST00000339876.10:exon6:c.G327A:p.P109P 1q32.1 C3N-01012 9.938e-05 0.0003 0 0.0009 0 1.506e-05 0 0 rs202239718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NFASC 197 0 514 31 0.0568807339449541 TRUE NA ENSG00000159239.13 . BCM GRCh38.p13 chr2 74414592 74414592 + G G A Silent SNP ENST00000517883.2 exon2 c.C1300T p.L434L exonic ENSG00000159239.13;ENSG00000284308.1 . synonymous SNV ENSG00000159239.13:ENST00000517883.2:exon2:c.C1300T:p.L434L,ENSG00000284308.1:ENST00000612891.4:exon4:c.C1486T:p.L496L 2p13.1 C3N-01012 . . . . . . . . rs965251194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC005041.1 94 0 228 30 0.116279069767442 TRUE NA ENSG00000188886.3 . BCM GRCh38.p13 chr2 96132664 96132664 + C C T Silent SNP ENST00000342380.2 exon6 c.G513A p.T171T exonic ENSG00000188886.3 . synonymous SNV ENSG00000188886.3:ENST00000342380.2:exon6:c.G513A:p.T171T 2q11.2 C3N-01012 2.491e-05 0 8.655e-05 0 0 1.516e-05 0 6.067e-05 rs778436747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ASTL 89 0 270 24 0.0816326530612245 TRUE NA ENSG00000144821.10 . BCM GRCh38.p13 chr3 108464698 108464698 + C C T Silent SNP ENST00000273353.4 exon16 c.G1731A p.K577K exonic ENSG00000144821.10 . synonymous SNV ENSG00000144821.10:ENST00000273353.4:exon16:c.G1731A:p.K577K 3q13.13 C3N-01012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYH15 120 0 253 20 0.0732600732600733 TRUE TRUE ENSG00000164796.18 . BCM GRCh38.p13 chr8 112265496 112265496 + T T C Silent SNP ENST00000297405.10 exon60 c.A9603G p.P3201P exonic ENSG00000164796.18 . synonymous SNV ENSG00000164796.18:ENST00000297405.10:exon60:c.A9603G:p.P3201P 8q23.3 C3N-01012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CSMD3 304 0 611 35 0.0541795665634675 TRUE TRUE ENSG00000148400.12 . BCM GRCh38.p13 chr9 136497466 136497466 + A A G Silent SNP ENST00000651671.1 exon34 c.T6273C p.D2091D exonic ENSG00000148400.12 . synonymous SNV ENSG00000148400.12:ENST00000651671.1:exon34:c.T6273C:p.D2091D 9q34.3 C3N-01012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53101518;OCCURENCE=1(lung) NOTCH1 181 0 341 34 0.0906666666666667 TRUE TRUE ENSG00000155495.9 . BCM GRCh38.p13 chrX 141908038 141908038 + T T C Silent SNP ENST00000285879.5 exon4 c.T2634C p.Y878Y exonic ENSG00000155495.9 . synonymous SNV ENSG00000155495.9:ENST00000285879.5:exon4:c.T2634C:p.Y878Y Xq27.2 C3N-01012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV53582181;OCCURENCE=1(large_intestine) MAGEC1 98 0 169 44 0.206572769953052 TRUE TRUE ENSG00000197322.4 . BCM GRCh38.p13 chr17 34579232 34579232 + C C G RNA SNP NA NA NA NA ncRNA_exonic ENSG00000197322.4 . . . 17q12 C3N-01012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . C17orf102 131 0 304 21 0.0646153846153846 TRUE NA ENSG00000178821.13 . BCM GRCh38.p13 chr1 1917998 1917998 + C C T Missense_Mutation SNP ENST00000310991.8 exon5 c.G514A p.A172T exonic ENSG00000178821.13 . nonsynonymous SNV ENSG00000178821.13:ENST00000310991.8:exon5:c.G514A:p.A172T 1p36.33 C3N-03426 . . . . . . . . . 0.20 T T B B N N L T N 0.069 T T T 0.031 0.059 0.014 0.046 T T T T T T 0.153 2.602 0.879 N N -1.284 0.174 -1.330 0.190 1.000 0.767 0.610 0.851 0.605 . 4.040 -0.366 -0.190 -0.923 -0.830 0.000 0.000 0.000 923 . . . . TMEM52 360 0 556 132 0.191860465116279 TRUE NA ENSG00000162669.16 . BCM GRCh38.p13 chr1 91323169 91323169 + G G C Missense_Mutation SNP ENST00000370425.8 exon22 c.C2458G p.L820V exonic ENSG00000162669.16 . nonsynonymous SNV ENSG00000162669.16:ENST00000370425.8:exon22:c.C2458G:p.L820V 1p22.2 C3N-03426 . . . . . . . . . 0.20 T T B B N N L T N 0.160 T T T 0.024 0.374 0.072 0.051 T T T T T T 0.673 8.206 0.914 N N -0.979 0.427 -0.882 0.644 0.000 0.487 0.574 0.574 0.564 . 5.180 1.130 0.118 -0.169 -0.113 0.172 0.997 0.989 678 Sec63_domain . . . HFM1 161 0 261 60 0.186915887850467 TRUE TRUE ENSG00000060718.22 . BCM GRCh38.p13 chr1 103017870 103017870 + G G A Missense_Mutation SNP ENST00000370096.9 exon11 c.C1363T p.P455S exonic ENSG00000060718.22 . nonsynonymous SNV ENSG00000060718.22:ENST00000370096.9:exon11:c.C1363T:p.P455S 1p21.1 C3N-03426 . . . . . . . . . 19.20 D D D D D D M D D 0.587 D D D 0.703 . 0.629 0.569 T D D D D D 3.951 26.700 0.997 D D 0.837 9.555 0.823 10.849 0.999 0.615 0.574 0.659 0.564 . 5.380 5.380 6.184 1.176 0.676 1.000 1.000 0.992 834 . . . ID=COSV62191823;OCCURENCE=1(urinary_tract) COL11A1 289 0 389 83 0.175847457627119 TRUE TRUE ENSG00000157181.16 . BCM GRCh38.p13 chr1 186393983 186393983 + C C A Missense_Mutation SNP ENST00000287859.11 exon9 c.C748A p.H250N exonic ENSG00000157181.16 . nonsynonymous SNV ENSG00000157181.16:ENST00000287859.11:exon9:c.C748A:p.H250N 1q31.1 C3N-03426 . . . . . . . . . 1.19 T T B B N D L T N 0.191 T T T 0.026 0.385 0.115 0.151 . T T T T T 1.752 17.390 0.954 N N -0.488 1.200 -0.375 1.418 1.000 0.757 0.744 0.744 0.657 . 5.340 4.430 2.392 1.026 0.599 0.034 0.928 0.847 386 . . . . ODR4 169 0 288 53 0.155425219941349 TRUE TRUE ENSG00000162687.18 . BCM GRCh38.p13 chr1 196326807 196326807 + C C A Missense_Mutation SNP ENST00000294725.13 exon19 c.G2186T p.G729V exonic ENSG00000162687.18 . nonsynonymous SNV ENSG00000162687.18:ENST00000294725.13:exon19:c.G2186T:p.G729V 1q31.3 C3N-03426 . . . . . . . . . 17.20 D D D D D D M T D 0.915 T D D 0.580 0.360 0.693 1.353 D T D D D D 3.118 23.700 0.997 D D 0.637 6.321 0.662 7.093 1.000 0.554 0.574 0.602 0.564 . 5.280 5.280 7.905 1.026 0.599 1.000 1.000 0.999 520 . . . . KCNT2 83 0 142 44 0.236559139784946 TRUE TRUE ENSG00000162889.11 . BCM GRCh38.p13 chr1 206728734 206728734 + C C T Missense_Mutation SNP ENST00000367103.4 exon2 c.C304T p.R102C exonic ENSG00000162889.11 . nonsynonymous SNV ENSG00000162889.11:ENST00000367103.4:exon2:c.C304T:p.R102C 1q32.1 C3N-03426 . . . . . . . . . 14.19 D D D D . D L T D 0.792 T T D 0.506 0.642 0.853 2.459 D T D D D D 4.443 31 0.999 D D 0.667 6.676 0.620 6.482 1.000 0.732 0.725 0.744 0.714 . 5.330 4.420 5.949 1.026 0.599 1.000 0.998 0.995 771 Protein_kinase_domain . . . MAPKAPK2 153 0 237 29 0.109022556390977 TRUE TRUE ENSG00000187554.14 . BCM GRCh38.p13 chr1 223112940 223112940 + G G A Missense_Mutation SNP ENST00000642603.2 exon6 c.C92T p.A31V exonic ENSG00000187554.14 . nonsynonymous SNV ENSG00000187554.14:ENST00000642603.2:exon6:c.C92T:p.A31V 1q41 C3N-03426 . . . . . . . . . 14.16 D D . . D D . D D 0.468 D D D 0.384 0.309 0.918 0.263 T . D T D D 3.284 24.100 0.999 D D 0.243 3.498 0.165 3.015 1.000 0.646 0.590 0.645 0.613 . 4.750 4.750 6.874 1.176 0.676 1.000 0.005 0.004 756 . . . . TLR5 383 0 695 70 0.0915032679738562 TRUE TRUE ENSG00000162711.17 . BCM GRCh38.p13 chr1 247425220 247425220 + G G A Missense_Mutation SNP ENST00000336119.7 exon3 c.G1777A p.E593K exonic ENSG00000162711.17 . nonsynonymous SNV ENSG00000162711.17:ENST00000336119.7:exon3:c.G1777A:p.E593K 1q44 C3N-03426 . . . . . . . . . 16.19 D T D D D D . D D 0.633 D D D 0.578 0.595 0.997 0.973 T D D D D D 3.217 23.900 0.999 D N 0.436 4.573 0.357 4.067 1.000 0.487 0.852 0.547 0.564 . 3.960 3.960 0.426 1.146 0.676 0.021 0.965 0.927 889 . . . ID=COSV60221154;OCCURENCE=3(skin) NLRP3 723 1 1106 253 0.18616629874908 TRUE TRUE ENSG00000196208.14 . BCM GRCh38.p13 chr2 11593083 11593083 + C C G Missense_Mutation SNP ENST00000381486.7 exon11 c.C1653G p.C551W exonic ENSG00000196208.14 . nonsynonymous SNV ENSG00000196208.14:ENST00000381486.7:exon11:c.C1653G:p.C551W 2p25.1 C3N-03426 . . . . . . . . . 9.20 D D D P N D L T D 0.654 T T D 0.236 0.613 0.348 1.153 T T T T D T 2.853 23.100 0.992 D D -0.024 2.428 -0.113 2.010 0.485 0.646 0.590 0.645 0.567 . 4.820 -1.230 0.097 -1.284 -0.289 0.963 0.867 0.987 921 . . . . GREB1 106 0 151 17 0.101190476190476 TRUE TRUE ENSG00000011523.14 . BCM GRCh38.p13 chr2 65071806 65071806 + C C - Frame_Shift_Del DEL ENST00000377990.7 exon3 c.710delC p.S238Lfs*5 exonic ENSG00000011523.14 . frameshift deletion ENSG00000011523.14:ENST00000377990.7:exon3:c.710delC:p.S238Lfs*5 2p14 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CEP68 73 0 129 15 0.104166666666667 TRUE TRUE ENSG00000116127.18 . BCM GRCh38.p13 chr2 73451542 73451542 + T T C Missense_Mutation SNP ENST00000613296.5 exon8 c.T5015C p.V1672A exonic ENSG00000116127.18 . nonsynonymous SNV ENSG00000116127.18:ENST00000613296.5:exon8:c.T5015C:p.V1672A 2p13.1 C3N-03426 . . . . . . . . . 0.14 . T . . N N . . . 0.148 T T T 0.048 . 0.110 . T T T T T T -0.803 0.025 0.606 N N -1.361 0.134 -1.423 0.140 1.000 0.732 0.617 0.744 0.684 . 4.050 -2.850 -1.473 -0.238 0.665 0.000 0.002 0.010 492 . . . . ALMS1 187 0 321 39 0.108333333333333 TRUE NA ENSG00000080345.18 . BCM GRCh38.p13 chr2 151440061 151440061 + G G C Missense_Mutation SNP ENST00000444746.7 exon15 c.G1581C p.L527F exonic ENSG00000080345.18 . nonsynonymous SNV ENSG00000080345.18:ENST00000444746.7:exon15:c.G1581C:p.L527F 2q23.3 C3N-03426 . . . . . . . . . 10.20 T D D D D D M T N 0.665 T T D 0.230 0.208 0.344 0.294 T T T T D D 2.759 22.900 0.999 D N 0.340 3.993 0.276 3.580 0.141 0.707 0.577 0.696 0.714 . 5.040 3.210 0.941 1.176 0.613 1.000 0.983 0.924 819 . . . . RIF1 102 0 205 22 0.0969162995594714 TRUE TRUE ENSG00000155657.27 . BCM GRCh38.p13 chr2 178773946 178773946 + G G T Missense_Mutation SNP ENST00000591111.5 exon31 c.C7222A p.Q2408K exonic ENSG00000155657.27 . nonsynonymous SNV ENSG00000155657.27:ENST00000591111.5:exon31:c.C7222A:p.Q2408K 2q31.2 C3N-03426 . . . . . . . . . 8.17 T D P B . D . T D 0.480 T T D 0.238 0.579 0.223 0.125 T . T T D D 2.521 22.500 0.974 D D 0.256 3.559 0.448 4.720 1.000 0.554 0.602 0.618 0.586 . 5.820 5.820 8.066 1.176 0.676 1.000 1.000 0.998 343 Immunoglobulin_I-set;Immunoglobulin-like_domain;Immunoglobulin_subtype . . . TTN 348 0 487 49 0.0914179104477612 TRUE TRUE ENSG00000170396.8 . BCM GRCh38.p13 chr2 184936001 184936001 + A A C Missense_Mutation SNP ENST00000302277.7 exon4 c.A605C p.D202A exonic ENSG00000170396.8 . nonsynonymous SNV ENSG00000170396.8:ENST00000302277.7:exon4:c.A605C:p.D202A 2q32.1 C3N-03426 . . . . . . . . . 6.20 D T B B N D M T D 0.225 T T T 0.078 0.268 0.103 0.285 T T T T D T 2.937 23.300 0.993 D N -0.138 2.057 -0.039 2.229 0.002 0.554 0.588 0.574 0.621 . 5.320 4.130 3.256 1.312 0.691 1.000 0.998 0.998 883 . . . . ZNF804A 171 0 283 38 0.118380062305296 TRUE TRUE ENSG00000177483.11 . BCM GRCh38.p13 chr2 237829332 237829332 + G G T Nonsense_Mutation SNP ENST00000316997.8 exon13 c.G2719T p.E907X exonic ENSG00000177483.11 . stopgain ENSG00000177483.11:ENST00000316997.8:exon13:c.G2719T:p.E907X 2q37.3 C3N-03426 . . . . . . . . . 4.5 . . . . . A . . . 0.227 . . . . . . . . . D D . . 7.798 39 0.998 D N 1.026 14.754 0.852 11.851 0.979 0.554 0.588 0.547 0.621 . 4.700 4.700 5.321 1.166 0.665 1.000 0.996 0.765 982 . . . . RBM44 175 0 309 40 0.114613180515759 TRUE TRUE ENSG00000168427.9 . BCM GRCh38.p13 chr2 238141086 238141086 + C C T Missense_Mutation SNP ENST00000409223.2 exon2 c.C332T p.A111V exonic ENSG00000168427.9 . nonsynonymous SNV ENSG00000168427.9:ENST00000409223.2:exon2:c.C332T:p.A111V 2q37.3 C3N-03426 0.0001 0 8.76e-05 0.0013 0 0 0 0 rs539598913 4.20 D D P B N N N T N 0.151 T T D 0.087 0.337 0.697 0.442 T T T T T T 1.951 18.880 0.998 D N -0.113 2.134 -0.076 2.116 1.000 0.428 0.547 0.547 0.613 . 5.750 3.770 3.635 1.026 0.599 1.000 0.021 0.010 969 BTB/POZ_domain . . . KLHL30 118 0 168 28 0.142857142857143 TRUE NA ENSG00000163939.18 . BCM GRCh38.p13 chr3 52587431 52587431 + T T G Missense_Mutation SNP ENST00000296302.11 exon19 c.A3045C p.K1015N exonic ENSG00000163939.18 . nonsynonymous SNV ENSG00000163939.18:ENST00000296302.11:exon19:c.A3045C:p.K1015N 3p21.1 C3N-03426 . . . . . . . . . 14.20 D T D D D D N D D 0.751 T D D 0.495 0.778 0.817 1.201 D D T T D D 3.074 23.600 0.996 D N -0.105 2.158 -0.043 2.218 0.000 0.732 0.744 0.725 0.728 . 5.920 2.270 -0.104 1.138 0.665 0.800 1.000 1.000 27 Bromo_adjacent_homology_(BAH)_domain . . . PBRM1 168 0 205 17 0.0765765765765766 NA TRUE ENSG00000180353.11 . BCM GRCh38.p13 chr3 121658316 121658316 + G G T Missense_Mutation SNP ENST00000314583.8 exon2 c.C32A p.S11Y exonic ENSG00000180353.11 . nonsynonymous SNV ENSG00000180353.11:ENST00000314583.8:exon2:c.C32A:p.S11Y 3q13.33 C3N-03426 . . . . . . . . . 13.20 D D D D N D M T D 0.510 T T T 0.233 0.327 0.677 0.384 T D D T D D 3.805 25.900 0.995 D D 0.655 6.534 0.621 6.497 1.000 0.732 0.686 0.602 0.728 . 4.980 4.980 4.958 1.176 0.676 1.000 1.000 0.998 336 . . . . HCLS1 124 0 264 24 0.0833333333333333 TRUE TRUE ENSG00000284862.3 . BCM GRCh38.p13 chr3 180619363 180619363 + C C T Missense_Mutation SNP ENST00000476379.6 exon16 c.G2161A p.D721N exonic ENSG00000284862.3 . nonsynonymous SNV ENSG00000284862.3:ENST00000476379.6:exon16:c.G2161A:p.D721N 3q26.33 C3N-03426 . . . . . . . . . 6.19 T D P B . D L T N 0.142 T T D 0.244 0.128 0.860 0.064 T T T T D D 2.757 22.900 0.994 D N 0.040 2.656 0.105 2.754 0.045 0.554 0.588 0.574 0.613 . 5.690 3.800 2.788 1.026 0.599 1.000 0.986 0.228 601 . . . . CCDC39 114 0 271 20 0.0687285223367698 TRUE TRUE ENSG00000134853.12 . BCM GRCh38.p13 chr4 54295213 54295213 + G G A Missense_Mutation SNP ENST00000257290.10 exon23 c.G3211A p.D1071N exonic ENSG00000134853.12;ENSG00000282278.1 . nonsynonymous SNV ENSG00000134853.12:ENST00000257290.10:exon23:c.G3211A:p.D1071N,ENSG00000282278.1:ENST00000507166.5:exon24:c.G2491A:p.D831N 4q12 C3N-03426 4.118e-05 9.61e-05 0 0 0 4.495e-05 0 6.056e-05 rs376544204 6.20 D T P B U D L T N 0.302 T T D 0.317 . 0.387 0.074 T T T T T D 2.904 23.200 0.999 D D 0.236 3.467 0.386 4.261 0.998 0.549 0.574 0.618 0.616 . 5.840 5.000 6.097 1.146 0.676 1.000 1.000 0.999 422 . . . ID=COSV57264427;OCCURENCE=1(breast),1(penis),2(large_intestine),2(lung),4(endometrium) PDGFRA 271 0 364 57 0.135391923990499 TRUE TRUE ENSG00000169248.13 . BCM GRCh38.p13 chr4 76035319 76035319 + G G A Missense_Mutation SNP ENST00000306621.8 exon2 c.C85T p.R29C exonic ENSG00000169248.13 . nonsynonymous SNV ENSG00000169248.13:ENST00000306621.8:exon2:c.C85T:p.R29C 4q21.1 C3N-03426 4.971e-05 0.0002 0 0.0001 0 1.508e-05 0 0.0001 rs377189872 8.19 D D B B D D . T D 0.810 T T D 0.223 0.926 0.373 0.181 T D T T T D 2.399 22.100 0.987 N N -0.398 1.388 -0.390 1.390 1.000 0.615 0.476 0.618 0.655 . 5.370 3.620 1.210 0.222 0.676 0.534 0.569 0.335 879 Chemokine_interleukin-8-like_domain;CXC_Chemokine_domain . . ID=COSV60666552;OCCURENCE=1(large_intestine),1(stomach),1(endometrium) CXCL11 244 0 370 55 0.129411764705882 TRUE TRUE ENSG00000185149.6 . BCM GRCh38.p13 chr4 155214274 155214274 + T T C Missense_Mutation SNP ENST00000329476.4 exon2 c.T335C p.L112S exonic ENSG00000185149.6 . nonsynonymous SNV ENSG00000185149.6:ENST00000329476.4:exon2:c.T335C:p.L112S 4q32.1 C3N-03426 . . . . . . . . . 17.20 D D D D D D M T D 0.930 D D D 0.887 0.774 0.972 1.214 T T D D D D 4.080 27.600 0.999 D D 0.861 10.087 0.818 10.665 1.000 0.487 0.574 0.574 0.542 . 5.440 5.440 8.010 1.138 0.654 0.998 0.998 0.996 651 GPCR,_rhodopsin-like,_7TM . . . NPY2R 156 0 270 37 0.120521172638436 TRUE TRUE ENSG00000256394.3 . BCM GRCh38.p13 chr4 155836690 155836690 + T T A Missense_Mutation SNP ENST00000537611.3 exon8 c.A1234T p.R412W exonic ENSG00000256394.3 . nonsynonymous SNV ENSG00000256394.3:ENST00000537611.3:exon8:c.A1234T:p.R412W 4q32.1 C3N-03426 . . . . . . . . . 15.20 D D D D D D M T D 0.841 T T D 0.463 0.387 0.625 0.098 T T D D D D 5.249 33 0.999 D D 0.486 4.929 0.341 3.962 0.000 0.487 0.574 0.574 0.564 . 4.800 2.320 3.502 0.142 0.665 1.000 0.992 0.887 917 . . . . ASIC5 66 0 126 21 0.142857142857143 TRUE TRUE ENSG00000040731.10 . BCM GRCh38.p13 chr5 24487902 24487902 + C C T Missense_Mutation SNP ENST00000264463.8 exon12 c.G2128A p.V710I exonic ENSG00000040731.10 . nonsynonymous SNV ENSG00000040731.10:ENST00000264463.8:exon12:c.G2128A:p.V710I 5p14.2 C3N-03426 1.649e-05 0 0 0.0002 0 0 0 0 rs560951980 6.20 T T D P D D L T N 0.411 T T T 0.335 0.547 0.753 1.144 T T T T D T 2.937 23.300 0.999 D D 0.403 4.361 0.496 5.120 1.000 0.487 0.574 0.574 0.564 . 5.410 5.410 6.103 1.022 0.596 1.000 0.999 0.999 858 Cadherin,_cytoplasmic_domain . . ID=COSV52600093;OCCURENCE=1(lung) CDH10 352 0 556 64 0.103225806451613 TRUE TRUE ENSG00000168724.17 . BCM GRCh38.p13 chr5 34938958 34938958 + G G A Missense_Mutation SNP ENST00000648817.1 exon6 c.G844A p.G282R exonic ENSG00000168724.17 . nonsynonymous SNV ENSG00000168724.17:ENST00000648817.1:exon6:c.G844A:p.G282R 5p13.2 C3N-03426 . . . . . . . . . 6.20 T T P B N D M T N 0.327 T T T 0.137 0.275 0.533 0.073 T T T T D D 3.121 23.700 0.998 D D 0.181 3.221 0.334 3.918 1.000 0.707 0.725 0.725 0.714 . 6.170 6.170 6.344 1.176 0.676 1.000 0.956 0.759 528 . . . . DNAJC21 168 0 274 68 0.198830409356725 TRUE TRUE ENSG00000133302.13 . BCM GRCh38.p13 chr5 94694992 94694992 + G G C Missense_Mutation SNP ENST00000265140.10 exon21 c.G2857C p.E953Q exonic ENSG00000133302.13 . nonsynonymous SNV ENSG00000133302.13:ENST00000265140.10:exon21:c.G2857C:p.E953Q 5q15 C3N-03426 . . . . . . . . . 9.19 D D D D D D . T N 0.590 T T T 0.270 0.367 0.735 0.406 T T T T D T 3.810 25.900 0.998 D D 0.686 6.929 0.711 7.956 1.000 0.660 0.654 0.659 0.592 . 5.460 5.460 6.883 1.172 0.613 1.000 1.000 0.999 847 . . . . SLF1 108 0 250 25 0.0909090909090909 TRUE TRUE ENSG00000133302.13 . BCM GRCh38.p13 chr5 94694997 94694997 + T T G Missense_Mutation SNP ENST00000265140.10 exon21 c.T2862G p.F954L exonic ENSG00000133302.13 . nonsynonymous SNV ENSG00000133302.13:ENST00000265140.10:exon21:c.T2862G:p.F954L 5q15 C3N-03426 . . . . . . . . rs767172390 3.19 T T P B D D . T N 0.102 T T T 0.062 . 0.466 0.121 T T T T T T 1.805 17.760 0.994 D N -0.264 1.705 -0.163 1.876 0.998 0.660 0.654 0.659 0.592 . 5.460 1.500 1.286 0.194 0.604 1.000 0.998 0.998 847 . . . . SLF1 100 21 239 21 0.0807692307692308 TRUE NA ENSG00000113441.16 . BCM GRCh38.p13 chr5 96979473 96979473 + G G A Missense_Mutation SNP ENST00000231368.10 exon2 c.G355A p.V119M exonic ENSG00000113441.16 . nonsynonymous SNV ENSG00000113441.16:ENST00000231368.10:exon2:c.G355A:p.V119M 5q15 C3N-03426 8.246e-06 0 0 0 0 1.499e-05 0 0 rs763065052 6.20 D T D P N D L T N 0.260 T T D 0.149 . 0.162 0.460 T T T T T D 1.685 16.930 0.998 D N 0.014 2.562 -0.042 2.220 1.000 0.707 0.725 0.602 0.714 . 6.070 4.240 2.133 1.176 0.618 0.998 0.102 0.143 869 . . . . LNPEP 197 0 303 38 0.111436950146628 TRUE NA ENSG00000145901.15 . BCM GRCh38.p13 chr5 151036804 151036804 + A A T Missense_Mutation SNP ENST00000315050.11 exon13 c.T1381A p.L461M exonic ENSG00000145901.15 . nonsynonymous SNV ENSG00000145901.15:ENST00000315050.11:exon13:c.T1381A:p.L461M 5q33.1 C3N-03426 . . . . . . . . . 11.20 D T D P D N N D N 0.478 D D D 0.364 0.202 0.378 0.775 D T D T D D 2.746 22.900 0.990 N N -0.250 1.740 -0.414 1.348 1.000 0.732 0.698 0.744 0.714 . 5.530 -4.100 0.780 0.283 -0.065 0.411 0.987 0.887 803 NF-kappa-B_essential_modulator_NEMO,_CC2-LZ_domain . . . TNIP1 211 0 345 31 0.0824468085106383 TRUE TRUE ENSG00000170613.4 . BCM GRCh38.p13 chr5 157162827 157162827 + T T G Missense_Mutation SNP ENST00000302938.4 exon2 c.A1438C p.K480Q exonic ENSG00000170613.4 . nonsynonymous SNV ENSG00000170613.4:ENST00000302938.4:exon2:c.A1438C:p.K480Q 5q33.3 C3N-03426 0.0003 0.0031 0.0003 0 0 0 0 0 rs148949971 3.20 D T D P N N M T N 0.068 T T T 0.054 . 0.102 0.140 T T T T T T 2.183 20.700 0.948 N N 0.025 2.600 -0.158 1.891 0.064 0.487 0.547 0.574 0.564 . 4.640 3.450 0.753 0.197 0.665 0.907 0.174 0.239 558 . . . . FAM71B 378 0 536 53 0.0899830220713073 TRUE NA ENSG00000164330.17 . BCM GRCh38.p13 chr5 158796368 158796368 + C C T Missense_Mutation SNP ENST00000313708.11 exon9 c.G886A p.G296S exonic ENSG00000164330.17 . nonsynonymous SNV ENSG00000164330.17:ENST00000313708.11:exon9:c.G886A:p.G296S 5q33.3 C3N-03426 . . . . . . . . . 20.20 D D D D D D M D D 0.914 D D D 0.905 0.817 0.945 2.226 D D D D D D 3.954 26.700 0.999 D D 0.948 12.371 0.914 14.382 1.000 0.707 0.725 0.574 0.564 . 5.680 5.680 7.905 1.026 0.599 1.000 1.000 1.000 786 IPT_domain;Transcription_factor_COE,_IPT_domain . . . EBF1 113 0 194 22 0.101851851851852 TRUE TRUE ENSG00000145934.16 . BCM GRCh38.p13 chr5 168190405 168190405 + C C T Missense_Mutation SNP ENST00000518659.5 exon14 c.C2638T p.R880W exonic ENSG00000145934.16 . nonsynonymous SNV ENSG00000145934.16:ENST00000518659.5:exon14:c.C2638T:p.R880W 5q34 C3N-03426 5.848e-05 0 0 0.0008 0 0 0 0 rs748990955 17.20 D D D D D D M T D 0.826 D D D 0.559 0.533 0.337 1.255 D T T D D D 3.946 26.600 0.999 D D 0.575 5.674 0.560 5.761 1.000 0.554 0.588 0.574 0.564 . 5.940 5.060 3.122 1.026 0.599 1.000 1.000 0.999 910 . . . ID=COSV69133491;OCCURENCE=1(large_intestine) TENM2 183 0 240 39 0.139784946236559 TRUE TRUE ENSG00000134516.18 . BCM GRCh38.p13 chr5 170050275 170050275 + G G A Missense_Mutation SNP ENST00000520908.7 exon41 c.G4091A p.R1364H exonic ENSG00000134516.18 . nonsynonymous SNV ENSG00000134516.18:ENST00000520908.7:exon41:c.G4091A:p.R1364H 5q35.1 C3N-03426 8.248e-06 0 0 0 0 1.501e-05 0 0 rs769663046 14.20 D D D D D D M T D 0.821 T T D 0.473 0.620 0.776 1.630 T T D T D D 4.616 32 0.999 D D 1.041 15.255 0.968 16.995 1.000 0.707 0.725 0.653 0.613 . 5.420 5.420 10.003 1.176 0.676 1.000 0.929 0.793 964 DHR-2_domain;Dedicator_of_cytokinesis,_C-terminal . . ID=COSV56987375;OCCURENCE=1(stomach),1(upper_aerodigestive_tract) DOCK2 114 0 195 29 0.129464285714286 TRUE TRUE ENSG00000169220.18 . BCM GRCh38.p13 chr5 177371201 177371201 + G G A Missense_Mutation SNP ENST00000408923.8 exon12 c.G1291A p.V431M exonic ENSG00000169220.18 . nonsynonymous SNV ENSG00000169220.18:ENST00000408923.8:exon12:c.G1291A:p.V431M 5q35.3 C3N-03426 . . . . . . . . . 13.20 D D D D D D M T N 0.657 T T D 0.290 0.591 0.765 1.165 T D T T D D 4.362 31 0.999 D D 0.708 7.226 0.683 7.448 1.000 0.733 0.639 0.601 0.604 . 5.570 5.570 4.810 1.079 0.667 1.000 0.980 0.858 934 Raf-like_Ras-binding . . . RGS14 233 0 394 43 0.0983981693363844 TRUE TRUE ENSG00000124802.12 . BCM GRCh38.p13 chr6 8090202 8090202 + C C T Missense_Mutation SNP ENST00000379715.10 exon3 c.G368A p.G123E exonic ENSG00000124802.12;ENSG00000265818.1 . nonsynonymous SNV ENSG00000124802.12:ENST00000379715.10:exon3:c.G368A:p.G123E,ENSG00000265818.1:ENST00000397456.2:exon3:c.G368A:p.G123E 6p24.3 C3N-03426 . . . . . . . . . 14.20 D T D D D D M T D 0.968 T T D 0.347 0.657 0.576 1.109 T T D D D D 4.096 27.700 0.998 D D 0.686 6.934 0.651 6.923 1.000 0.732 0.744 0.744 0.728 . 4.960 4.960 6.954 1.026 0.599 1.000 0.994 0.999 898 Glutathione_S-transferase,_C-terminal-like;Glutathione_S-transferase,_C-terminal . . . EEF1E1 47 0 137 10 0.0680272108843537 TRUE TRUE ENSG00000197935.6 . BCM GRCh38.p13 chr6 28998786 28998786 + G G C Missense_Mutation SNP ENST00000377179.3 exon6 c.C363G p.D121E exonic ENSG00000197935.6 . nonsynonymous SNV ENSG00000197935.6:ENST00000377179.3:exon6:c.C363G:p.D121E 6p22.1 C3N-03426 . . . . . . . . . 0.18 T T B B . N N T N 0.034 T T T 0.064 0.371 0.146 0.175 T T T T T . -0.476 0.133 0.222 N N -1.216 0.216 -1.136 0.340 0.008 0.615 0.590 0.659 0.568 . 3.730 1.720 -1.726 0.007 -0.231 0.000 0.026 0.115 749 Krueppel-associated_box . . . ZNF311 205 0 343 34 0.0901856763925729 TRUE TRUE ENSG00000096060.14 . BCM GRCh38.p13 chr6 35642769 35642769 + G G T Missense_Mutation SNP ENST00000536438.5 exon3 c.C56A p.A19D exonic ENSG00000096060.14 . nonsynonymous SNV ENSG00000096060.14:ENST00000536438.5:exon3:c.C56A:p.A19D 6p21.31 C3N-03426 . . . . . . . . . 4.20 T T B B N D L D N 0.194 T T T 0.296 0.224 0.973 0.466 T T T T D T 1.927 18.690 0.983 D N 0.163 3.144 0.230 3.332 0.950 0.719 0.723 0.710 0.714 . 5.950 5.080 2.498 1.176 0.676 1.000 0.490 0.730 581 . . . . FKBP5 157 0 306 34 0.1 TRUE TRUE ENSG00000001084.13 . BCM GRCh38.p13 chr6 53514486 53514486 + C C G Missense_Mutation SNP ENST00000650454.1 exon5 c.G572C p.R191T exonic ENSG00000001084.13 . nonsynonymous SNV ENSG00000001084.13:ENST00000650454.1:exon5:c.G572C:p.R191T 6p12.1 C3N-03426 . . . . . . . . . 16.20 D T D D D D M T D 0.865 T T D 0.551 0.442 0.724 1.728 D D D D D D 3.701 25.400 0.962 D D 0.849 9.814 0.834 11.220 1.000 0.707 0.709 0.725 0.714 . 5.940 5.940 7.472 1.026 0.599 1.000 1.000 0.997 697 . . . . GCLC 344 0 561 71 0.112341772151899 TRUE TRUE ENSG00000112245.12 . BCM GRCh38.p13 chr6 63578898 63578898 + G G A Missense_Mutation SNP ENST00000648894.1 exon6 c.G199A p.D67N exonic ENSG00000112245.12 . nonsynonymous SNV ENSG00000112245.12:ENST00000648894.1:exon6:c.G199A:p.D67N 6q12 C3N-03426 . . . . . . . . . 10.17 . T B B D D M . . 0.378 T D D 0.426 0.543 0.540 . T D T T D D 4.270 29.300 0.999 D D 0.287 3.712 0.429 4.569 1.000 0.707 0.581 0.702 0.714 . 5.660 5.660 7.861 1.102 0.505 1.000 1.000 0.992 796 Protein-tyrosine_phosphatase,_catalytic;Dual_specificity_phosphatase,_catalytic_domain . . . PTP4A1 38 0 92 8 0.08 TRUE TRUE ENSG00000135346.8 . BCM GRCh38.p13 chr6 87086429 87086429 + G G A Missense_Mutation SNP ENST00000627148.2 exon3 c.C94T p.P32S exonic ENSG00000135346.8 . nonsynonymous SNV ENSG00000135346.8:ENST00000627148.2:exon3:c.C94T:p.P32S 6q14.3 C3N-03426 . . . . . . . . . 9.19 T T D D D D M . N 0.471 T T T 0.230 0.410 0.450 1.803 T T T T D D 2.596 22.600 0.998 D D 0.408 4.395 0.393 4.312 0.674 0.487 0.547 0.547 0.564 . 5.050 5.050 4.973 1.176 0.618 1.000 0.997 0.253 824 . . . . CGA 51 0 144 12 0.0769230769230769 TRUE TRUE ENSG00000164418.20 . BCM GRCh38.p13 chr6 101928577 101928577 + A A G Missense_Mutation SNP ENST00000421544.6 exon16 c.A2030G p.Q677R exonic ENSG00000164418.20 . nonsynonymous SNV ENSG00000164418.20:ENST00000421544.6:exon16:c.A2030G:p.Q677R 6q16.3 C3N-03426 . . . . . . . . . 17.20 D D D D D D M T D 0.842 T T D 0.698 0.879 0.860 2.243 D D D D D D 3.929 26.500 0.999 D D 0.972 13.057 0.919 14.574 1.000 0.554 0.574 0.618 0.564 . 5.810 5.810 9.255 1.233 0.665 1.000 1.000 0.999 861 Ionotropic_glutamate_receptor . . . GRIK2 342 0 506 57 0.101243339253996 TRUE TRUE ENSG00000131018.24 . BCM GRCh38.p13 chr6 152455482 152455482 + C C T Missense_Mutation SNP ENST00000367255.10 exon24 c.G2836A p.A946T exonic ENSG00000131018.24 . nonsynonymous SNV ENSG00000131018.24:ENST00000367255.10:exon24:c.G2836A:p.A946T 6q25.2 C3N-03426 . . . . . . . . . 16.20 D D D D D D M T D 0.813 T T D 0.325 0.316 0.683 0.596 T D D D D D 3.163 23.800 0.999 D D 0.713 7.305 0.688 7.534 1.000 0.554 0.590 0.624 0.568 . 5.480 5.480 7.514 1.026 0.599 1.000 0.746 0.957 686 . . . . SYNE1 155 0 255 36 0.123711340206186 TRUE TRUE ENSG00000106305.10 . BCM GRCh38.p13 chr7 6015217 6015217 + G G T Missense_Mutation SNP ENST00000223029.8 exon2 c.G207T p.L69F exonic ENSG00000106305.10 . nonsynonymous SNV ENSG00000106305.10:ENST00000223029.8:exon2:c.G207T:p.L69F 7p22.1 C3N-03426 . . . . . . . . . 16.20 D D D D D D M T D 0.743 D T D 0.364 0.443 0.651 0.251 T T D D D D 3.908 26.400 0.999 D D 0.753 7.938 0.705 7.839 1.000 0.646 0.696 0.702 0.742 . 5.260 5.260 3.423 1.176 0.676 1.000 1.000 1.000 814 . . . . AIMP2 309 0 576 68 0.105590062111801 TRUE TRUE ENSG00000180347.13 . BCM GRCh38.p13 chr7 31643166 31643166 + C C T Missense_Mutation SNP ENST00000407970.7 exon11 c.C1796T p.S599L exonic ENSG00000180347.13 . nonsynonymous SNV ENSG00000180347.13:ENST00000407970.7:exon11:c.C1796T:p.S599L 7p14.3 C3N-03426 . . . . . . . . . 3.19 D D B B N N . T D 0.146 T T T 0.059 0.165 0.240 0.043 T T T T T T 1.544 16.020 0.996 N N -0.517 1.143 -0.593 1.057 0.427 0.554 0.590 0.602 0.564 . 6.020 1.880 0.283 1.026 0.599 0.000 0.037 0.244 803 . . . . ITPRID1 168 0 326 26 0.0738636363636364 TRUE TRUE ENSG00000180347.13 . BCM GRCh38.p13 chr7 31643174 31643174 + A A T Missense_Mutation SNP ENST00000407970.7 exon11 c.A1804T p.N602Y exonic ENSG00000180347.13 . nonsynonymous SNV ENSG00000180347.13:ENST00000407970.7:exon11:c.A1804T:p.N602Y 7p14.3 C3N-03426 . . . . . . . . . 0.19 T T B B N N . T N 0.244 T T T 0.034 0.109 0.407 0.042 T T T T T T 0.270 3.936 0.960 N N -0.744 0.740 -0.786 0.778 0.484 0.554 0.590 0.602 0.564 . 6.020 2.240 0.459 1.312 0.756 0.000 0.036 0.309 803 . . . ID=COSV100086850;OCCURENCE=1(central_nervous_system) ITPRID1 162 0 326 28 0.0790960451977401 TRUE TRUE ENSG00000128573.26 . BCM GRCh38.p13 chr7 114652252 114652252 + C C T Nonsense_Mutation SNP ENST00000350908.9 exon9 c.C1144T p.R382X exonic ENSG00000128573.26 . stopgain ENSG00000128573.26:ENST00000350908.9:exon9:c.C1144T:p.R382X 7q31.1 C3N-03426 . . . . . . . . . 5.6 . . . . D D . . . 0.966 . . . . . . . . . D D . . 7.264 37 0.998 D N 0.857 9.992 0.752 8.843 0.995 0.554 0.486 0.489 0.568 . 5.800 5.800 2.611 0.102 -0.224 1.000 1.000 0.990 760 FOXP,_coiled-coil_domain . . . FOXP2 356 0 612 66 0.0973451327433628 TRUE TRUE ENSG00000105967.16 . BCM GRCh38.p13 chr7 115984375 115984375 + C C A Missense_Mutation SNP ENST00000265440.12 exon2 c.G67T p.G23W exonic ENSG00000105967.16 . nonsynonymous SNV ENSG00000105967.16:ENST00000265440.12:exon2:c.G67T:p.G23W 7q31.2 C3N-03426 . . . . . . . . . 4.20 D D D P N N N T N 0.405 T T T 0.076 0.410 0.170 0.124 T T T T D T 1.222 13.810 0.966 N N -0.587 1.012 -0.710 0.885 0.971 0.706 0.670 0.574 0.613 . 5.090 0.691 -0.501 0.138 0.599 0.000 0.000 0.005 750 . . . . TFEC 416 0 722 64 0.0814249363867685 TRUE TRUE ENSG00000128524.5 . BCM GRCh38.p13 chr7 128862914 128862914 + - NA G Nonsense_Mutation SNP ENST00000249289.5 exon1 c.11dupG p.K6* exonic ENSG00000128524.5 . stopgain ENSG00000128524.5:ENST00000249289.5:exon1:c.11dupG:p.K6* 7q32.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ATP6V1F NA NA NA NA NA NA NA ENSG00000157168.20 . BCM GRCh38.p13 chr8 32759348 32759348 + G G C Missense_Mutation SNP ENST00000405005.7 exon10 c.G973C p.E325Q exonic ENSG00000157168.20 . nonsynonymous SNV ENSG00000157168.20:ENST00000405005.7:exon10:c.G973C:p.E325Q 8p12 C3N-03426 . . . . . . . . . 11.20 D T D D D D M T N 0.565 T T D 0.286 0.529 0.568 0.814 T T T T D D 3.919 26.500 0.998 D D 0.810 8.984 0.839 11.394 0.994 0.707 0.588 0.602 0.714 . 6.160 6.160 7.051 1.176 0.676 1.000 0.998 0.992 835 Neuregulin,_C-terminal . . . NRG1 131 0 221 27 0.108870967741935 TRUE TRUE ENSG00000206579.9 . BCM GRCh38.p13 chr8 55102690 55102690 + T T A Missense_Mutation SNP ENST00000327381.7 exon1 c.T202A p.C68S exonic ENSG00000206579.9 . nonsynonymous SNV ENSG00000206579.9:ENST00000327381.7:exon1:c.T202A:p.C68S 8q12.1 C3N-03426 . . . . . . . . . 3.20 T T B B N N N D N 0.265 T T D 0.194 0.487 0.043 0.786 D T T T T T 2.038 19.540 0.936 N N -0.568 1.047 -0.435 1.310 0.994 0.598 0.542 0.504 0.639 . 3.510 2.310 0.061 0.987 0.519 0.996 0.995 0.972 885 . . . . XKR4 34 0 53 3 0.0535714285714286 TRUE NA ENSG00000155100.11 . BCM GRCh38.p13 chr8 91078412 91078412 + T T G Missense_Mutation SNP ENST00000404789.8 exon4 c.T372G p.I124M exonic ENSG00000155100.11 . nonsynonymous SNV ENSG00000155100.11:ENST00000404789.8:exon4:c.T372G:p.I124M 8q21.3 C3N-03426 . . . . . . . . . 3.20 T T B B D D N T N 0.338 T T T 0.095 0.385 0.475 0.132 T T T T T T 2.714 22.900 0.753 D N -0.080 2.240 -0.001 2.356 0.997 0.707 0.725 0.725 0.714 . 6.060 3.650 2.201 -0.156 -0.133 1.000 0.998 0.993 505 . . . . OTUD6B 159 0 274 40 0.127388535031847 TRUE TRUE ENSG00000164796.18 . BCM GRCh38.p13 chr8 112636903 112636903 + G G A Missense_Mutation SNP ENST00000297405.10 exon22 c.C3629T p.S1210L exonic ENSG00000164796.18 . nonsynonymous SNV ENSG00000164796.18:ENST00000297405.10:exon22:c.C3629T:p.S1210L 8q23.3 C3N-03426 8.248e-06 0 0 0 0 1.499e-05 0 0 rs749839773 1.20 T T B B N N L T N 0.257 T T T 0.051 . 0.103 0.140 T T T T T T 1.824 17.910 0.993 D N -0.513 1.152 -0.361 1.444 0.005 0.487 0.574 0.574 0.564 . 5.740 1.510 1.780 -0.101 0.676 0.744 0.907 0.990 822 Sushi/SCR/CCP_domain . . ID=COSV52105227;OCCURENCE=1(ovary),1(skin) CSMD3 342 0 583 69 0.105828220858896 TRUE TRUE ENSG00000165632.8 . BCM GRCh38.p13 chr10 7965242 7965242 + G G A Missense_Mutation SNP ENST00000344293.6 exon3 c.G1732A p.E578K exonic ENSG00000165632.8 . nonsynonymous SNV ENSG00000165632.8:ENST00000344293.6:exon3:c.G1732A:p.E578K 10p14 C3N-03426 . . . . . . . . . 7.20 D T P B N D M T N 0.282 T T T 0.082 0.260 0.232 0.248 T T T T D D 3.112 23.700 0.997 D D 0.251 3.536 0.368 4.141 1.000 0.732 0.744 0.653 0.655 . 5.670 5.670 9.169 1.176 0.676 1.000 0.224 0.517 778 . . . . TAF3 129 0 219 25 0.102459016393443 TRUE TRUE ENSG00000148516.21 . BCM GRCh38.p13 chr10 31521364 31521364 + C C G Missense_Mutation SNP ENST00000320985.14 exon7 c.C2029G p.L677V exonic ENSG00000148516.21 . nonsynonymous SNV ENSG00000148516.21:ENST00000320985.14:exon7:c.C2029G:p.L677V 10p11.22 C3N-03426 8.256e-06 0 0 0 0 0 0 6.06e-05 rs267602469 0.20 T T B B N N L T N 0.119 T T T 0.049 0.064 0.239 0.145 T T T T T T 0.394 5.363 0.591 N N -1.138 0.274 -1.119 0.356 0.941 0.707 0.725 0.618 0.714 . 5.340 1.110 1.103 -0.325 -0.224 0.002 0.001 0.854 796 . . . . ZEB1 385 0 644 70 0.0980392156862745 TRUE NA ENSG00000122863.6 . BCM GRCh38.p13 chr10 72005902 72005902 + G G C Missense_Mutation SNP ENST00000373115.5 exon2 c.G60C p.M20I exonic ENSG00000122863.6 . nonsynonymous SNV ENSG00000122863.6:ENST00000373115.5:exon2:c.G60C:p.M20I 10q22.1 C3N-03426 . . . . . . . . . 10.20 T T B B N D N D N 0.315 D D D 0.359 0.248 0.970 0.721 T T D D D T 2.507 22.400 0.990 D D -0.097 2.184 0.081 2.657 1.000 0.615 0.547 0.576 0.655 . 5.660 4.730 5.265 0.161 0.676 1.000 0.923 0.966 725 . . . . CHST3 495 0 693 87 0.111538461538462 TRUE TRUE ENSG00000122376.11 . BCM GRCh38.p13 chr10 87187153 87187153 + A A C Missense_Mutation SNP ENST00000298784.5 exon8 c.A2261C p.E754A exonic ENSG00000122376.11 . nonsynonymous SNV ENSG00000122376.11:ENST00000298784.5:exon8:c.A2261C:p.E754A 10q23.2 C3N-03426 . . . . . . . . . 9.19 D D D D U D . T D 0.490 T T T 0.182 0.353 0.421 1.399 T T T T D D 3.987 26.900 0.994 D N 0.112 2.935 0.098 2.725 0.266 0.737 0.725 0.733 0.728 . 3.130 3.130 5.889 1.298 0.684 1.000 0.993 0.974 919 Protein_FAM35A,_C-terminal_domain . . . SHLD2 171 0 272 24 0.0810810810810811 NA TRUE ENSG00000121236.21 . BCM GRCh38.p13 chr11 5605503 5605503 + C C T Missense_Mutation SNP ENST00000278302.9 exon4 c.C686T p.S229L exonic ENSG00000121236.21;ENSG00000258588.3 . nonsynonymous SNV ENSG00000121236.21:ENST00000278302.9:exon4:c.C686T:p.S229L,ENSG00000258588.3:ENST00000354852.5:exon4:c.C770T:p.S257L 11p15.4 C3N-03426 2.474e-05 0 0 0 0 3e-05 0 6.062e-05 rs751430177 0.19 T T P B . N N T N 0.296 T T T 0.066 0.354 0.216 0.039 T T T T T T 1.035 12.060 0.810 N N -0.740 0.746 -0.775 0.793 1.000 0.707 0.670 0.725 0.655 . 4.850 2.910 0.132 1.026 0.599 0.000 0.326 0.618 814 . . . ID=COSV53479532;OCCURENCE=1(oesophagus),1(large_intestine) TRIM6 323 0 489 56 0.102752293577982 TRUE TRUE ENSG00000166311.10 . BCM GRCh38.p13 chr11 6391901 6391901 + G G A Missense_Mutation SNP ENST00000342245.9 exon2 c.G836A p.G279E exonic ENSG00000166311.10 . nonsynonymous SNV ENSG00000166311.10:ENST00000342245.9:exon2:c.G836A:p.G279E 11p15.4 C3N-03426 . . . . . . . . rs727504168 17.17 D D . . D D . D D 0.936 D D D 0.979 . 0.991 0.920 D D D D D D 4.036 27.200 0.998 D D 1.038 15.154 0.936 15.389 1.000 0.732 0.744 0.616 0.714 . 5.130 5.130 9.346 1.079 0.676 1.000 0.998 0.990 804 Calcineurin-like_phosphoesterase_domain,_ApaH_type . . . SMPD1 220 0 327 46 0.123324396782842 TRUE NA ENSG00000166833.21 . BCM GRCh38.p13 chr11 20068336 20068336 + C C T Missense_Mutation SNP ENST00000396087.7 exon24 c.C5089T p.R1697W exonic ENSG00000166833.21 . nonsynonymous SNV ENSG00000166833.21:ENST00000396087.7:exon24:c.C5089T:p.R1697W 11p15.1 C3N-03426 1.648e-05 0 8.658e-05 0 0 0 0 6.058e-05 rs151080998 20.20 D D D D D D M D D 0.831 D D D 0.638 0.446 0.973 1.274 D D D D D D 3.744 25.600 0.999 D D 0.115 2.944 0.011 2.396 0.772 0.707 0.588 0.725 0.714 . 5.420 0.330 1.411 0.074 0.599 0.847 0.998 0.994 840 . . . ID=COSV100216568;OCCURENCE=3(central_nervous_system),1(endometrium) NAV2 259 0 422 44 0.0944206008583691 TRUE NA ENSG00000109881.17 . BCM GRCh38.p13 chr11 27357403 27357403 + C C G Missense_Mutation SNP ENST00000328697.11 exon2 c.G498C p.E166D exonic ENSG00000109881.17 . nonsynonymous SNV ENSG00000109881.17:ENST00000328697.11:exon2:c.G498C:p.E166D 11p14.1 C3N-03426 . . . . . . . . . 12.20 D D D D D D M T D 0.397 T T D 0.186 0.167 0.741 0.579 T T T T D T 5.998 35 0.999 D D 0.695 7.046 0.695 7.655 1.000 0.706 0.634 0.710 0.668 . 5.610 5.610 4.573 1.026 0.599 1.000 0.996 0.970 563 . . . . CCDC34 108 0 204 25 0.109170305676856 TRUE NA ENSG00000173120.15 . BCM GRCh38.p13 chr11 67245216 67245216 + C C T Missense_Mutation SNP ENST00000529006.7 exon14 c.C1591T p.R531W exonic ENSG00000173120.15 . nonsynonymous SNV ENSG00000173120.15:ENST00000529006.7:exon14:c.C1591T:p.R531W 11q13.2 C3N-03426 . . . . . . . . . 9.20 D D D P N D L T N 0.375 T T D 0.110 0.440 0.182 1.768 T T T T D D 3.833 26.000 0.999 D D 0.249 3.529 0.296 3.695 1.000 0.672 0.698 0.702 0.711 . 5.360 4.430 2.652 0.074 0.599 1.000 0.992 0.986 253 . . . . KDM2A 178 0 276 47 0.145510835913313 TRUE TRUE ENSG00000023445.16 . BCM GRCh38.p13 chr11 102324951 102324951 + T T A Missense_Mutation SNP ENST00000263464.9 exon2 c.T442A p.S148T exonic ENSG00000023445.16 . nonsynonymous SNV ENSG00000023445.16:ENST00000263464.9:exon2:c.T442A:p.S148T 11q22.2 C3N-03426 . . . . . . . . . 0.20 T T B B N N L T N 0.074 T T T 0.065 0.248 0.363 0.250 T T T T T T 0.783 9.223 0.071 N N -0.898 0.523 -0.868 0.663 1.000 0.638 0.686 0.574 0.668 . 5.400 4.250 0.891 1.043 0.609 0.001 0.019 0.087 740 . . . . BIRC3 202 0 339 47 0.121761658031088 TRUE TRUE ENSG00000182634.8 . BCM GRCh38.p13 chr11 124038589 124038589 + C C T Missense_Mutation SNP ENST00000641585.1 exon2 c.G413A p.R138H exonic ENSG00000182634.8 . nonsynonymous SNV ENSG00000182634.8:ENST00000641585.1:exon2:c.G413A:p.R138H 11q24.2 C3N-03426 0.0008 0.0068 0.0022 0 0 1.498e-05 0 0 rs146405371 4.20 D T P P N N M T D 0.299 T T D 0.330 . 0.886 1.232 T T T T T T 1.740 17.300 0.998 N N -0.334 1.532 -0.585 1.070 0.000 0.487 0.574 0.574 0.564 . 3.240 1.330 -2.323 0.097 0.577 0.000 0.000 0.001 792 GPCR,_rhodopsin-like,_7TM . . ID=COSV57869403;OCCURENCE=1(oesophagus),1(endometrium) OR10G7 334 0 526 65 0.109983079526227 NA TRUE ENSG00000161850.3 . BCM GRCh38.p13 chr12 52396963 52396963 + G G A Missense_Mutation SNP ENST00000257974.3 exon6 c.C988T p.R330C exonic ENSG00000161850.3 . nonsynonymous SNV ENSG00000161850.3:ENST00000257974.3:exon6:c.C988T:p.R330C 12q13.13 C3N-03426 0.0010 0.0017 0.0002 0 0.0002 0.0011 0.0022 0.0012 rs139209735 12.20 D D B B D D M D D 0.297 D D D 0.460 . 0.768 0.083 T D T T T D 3.127 23.700 0.998 N N -0.039 2.374 -0.020 2.292 0.275 0.497 0.590 0.547 0.542 . 5.140 4.250 1.335 1.176 0.676 0.012 0.995 0.993 778 Intermediate_filament,_rod_domain . . ID=COSV57786220;OCCURENCE=1(skin) KRT82 241 0 355 32 0.082687338501292 TRUE TRUE ENSG00000183495.14 . BCM GRCh38.p13 chr12 132025765 132025765 + C C G Missense_Mutation SNP ENST00000389561.7 exon25 c.C4975G p.P1659A exonic ENSG00000183495.14 . nonsynonymous SNV ENSG00000183495.14:ENST00000389561.7:exon25:c.C4975G:p.P1659A 12q24.33 C3N-03426 . . . . . . . . . 4.18 T T B B N N . D N 0.299 T D D 0.272 . 0.349 0.435 T . T T T T 1.610 16.440 0.708 D N -0.553 1.075 -0.410 1.355 0.928 0.707 0.702 0.725 0.636 . 5.280 4.390 2.725 0.127 -0.193 0.963 0.373 0.150 970 . . . . EP400 100 0 176 29 0.141463414634146 TRUE TRUE ENSG00000136111.14 . BCM GRCh38.p13 chr13 75306460 75306460 + C C A Nonsense_Mutation SNP ENST00000377636.8 exon15 c.G2605T p.E869X exonic ENSG00000136111.14 . stopgain ENSG00000136111.14:ENST00000377636.8:exon15:c.G2605T:p.E869X 13q22.2 C3N-03426 . . . . . . . . . 5.6 . . . . D D . . . 0.980 . . . . . . . . . D D . . 8.869 46 0.997 D N 1.200 23.709 1.072 24.155 1.000 0.661 0.644 0.659 0.646 . 5.910 5.910 6.919 1.026 0.599 1.000 1.000 0.997 967 . . . . TBC1D4 156 1 264 23 0.0801393728222996 TRUE TRUE ENSG00000152192.8 . BCM GRCh38.p13 chr13 78601549 78601549 + C C T Missense_Mutation SNP ENST00000377208.7 exon2 c.G1126A p.V376M exonic ENSG00000152192.8 . nonsynonymous SNV ENSG00000152192.8:ENST00000377208.7:exon2:c.G1126A:p.V376M 13q31.1 C3N-03426 . . . . . . . . . 16.20 D T D D U D N D N 0.455 D D D 0.548 0.349 0.824 . D D D D D D 3.505 24.700 0.994 D D 0.462 4.756 0.446 4.699 1.000 0.443 0.541 0.666 0.568 . 4.350 4.350 6.020 1.006 0.576 1.000 0.027 0.140 638 Homeobox_domain . . . POU4F1 393 0 529 58 0.0988074957410562 TRUE TRUE ENSG00000100731.16 . BCM GRCh38.p13 chr14 71013183 71013183 + C C T Missense_Mutation SNP ENST00000304743.7 exon11 c.C2977T p.L993F exonic ENSG00000100731.16 . nonsynonymous SNV ENSG00000100731.16:ENST00000304743.7:exon11:c.C2977T:p.L993F 14q24.2 C3N-03426 . . . . . . . . . 16.20 D T D D D D M T D 0.880 D D D 0.742 0.663 0.410 0.545 T T D D D D 3.891 26.300 0.999 D D 0.794 8.666 0.780 9.555 1.000 0.707 0.725 0.725 0.714 . 5.350 5.350 7.284 1.026 0.599 1.000 1.000 1.000 776 . . . . PCNX1 512 0 772 92 0.106481481481481 TRUE TRUE ENSG00000181827.15 . BCM GRCh38.p13 chr15 56093484 56093484 + T T C Missense_Mutation SNP ENST00000674082.1 exon12 c.A3953G p.D1318G exonic ENSG00000181827.15 . nonsynonymous SNV ENSG00000181827.15:ENST00000674082.1:exon12:c.A3953G:p.D1318G 15q21.3 C3N-03426 . . . . . . . . . 6.20 T T D P U D L T N 0.600 T T T 0.204 0.125 0.123 . T T T T D D 3.370 24.300 0.992 D D 0.487 4.934 0.569 5.862 1.000 0.707 0.725 0.702 0.714 . 5.870 5.870 5.808 1.138 0.665 1.000 1.000 1.000 819 . . . . RFX7 145 0 256 25 0.0889679715302491 TRUE TRUE ENSG00000172349.17 . BCM GRCh38.p13 chr15 81282647 81282647 + G G A Missense_Mutation SNP ENST00000302987.8 exon8 c.G1090A p.V364M exonic ENSG00000172349.17 . nonsynonymous SNV ENSG00000172349.17:ENST00000302987.8:exon8:c.G1090A:p.V364M 15q25.1 C3N-03426 8.292e-06 0 0 0 0 1.501e-05 0 0 rs770332586 11.20 D D D D N D L T D 0.615 T T D 0.303 0.386 0.427 0.537 T T T T D D 3.444 24.500 0.998 D D 0.617 6.096 0.535 5.495 1.000 0.487 0.547 0.574 0.542 . 5.460 5.460 8.557 1.120 0.618 1.000 0.843 0.202 803 PDZ_domain . . . IL16 132 0 214 30 0.122950819672131 TRUE NA ENSG00000176046.9 . BCM GRCh38.p13 chr16 28538043 28538043 + C C A Missense_Mutation SNP ENST00000324873.8 exon2 c.G225T p.R75S exonic ENSG00000176046.9 . nonsynonymous SNV ENSG00000176046.9:ENST00000324873.8:exon2:c.G225T:p.R75S 16p11.2 C3N-03426 . . . . . . . . . 3.18 T T B B N D . . N 0.274 T T T 0.044 0.400 0.175 0.215 T T T T D T 2.414 22.100 0.986 N D -0.438 1.303 -0.349 1.467 1.000 0.624 0.588 0.547 0.580 . 5.400 2.240 0.112 0.129 -0.182 0.601 0.862 0.989 688 . . . . NUPR1 75 0 118 14 0.106060606060606 TRUE TRUE ENSG00000167693.17 . BCM GRCh38.p13 chr17 805107 805107 + C C T Missense_Mutation SNP ENST00000336868.8 exon6 c.G961A p.A321T exonic ENSG00000167693.17 . nonsynonymous SNV ENSG00000167693.17:ENST00000336868.8:exon6:c.G961A:p.A321T 17p13.3 C3N-03426 5.514e-05 0.0003 0 0 0 2.538e-05 0 8.585e-05 rs200704586 2.20 T T B B N D N T N 0.257 T T T 0.074 . 0.093 0.661 T T T T T T 1.065 12.400 0.915 D N -0.899 0.521 -0.726 0.862 0.777 0.696 0.588 0.723 0.563 . 5.170 3.180 4.997 -0.232 -0.891 1.000 0.733 0.234 951 Thioredoxin_domain . . . NXN 483 0 612 89 0.126961483594864 TRUE NA ENSG00000070366.14 . BCM GRCh38.p13 chr17 2299612 2299612 + C C T Missense_Mutation SNP ENST00000263073.11 exon2 c.G1141A p.G381S exonic ENSG00000070366.14 . nonsynonymous SNV ENSG00000070366.14:ENST00000263073.11:exon2:c.G1141A:p.G381S 17p13.3 C3N-03426 . . . . . . . . . 0.20 T T B B N N L T N 0.126 T T T 0.058 0.231 0.235 0.162 T T T T T T 0.164 2.724 0.872 N N -1.084 0.321 -1.067 0.410 0.400 0.719 0.698 0.723 0.711 . 5.350 -0.246 0.224 -0.996 -0.176 0.000 0.104 0.230 652 . . . . SMG6 186 0 235 41 0.148550724637681 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674250 7674250 + C C T Missense_Mutation SNP ENST00000269305.8 exon7 c.G713A p.C238Y exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.G713A:p.C238Y 17p13.1 C3N-03426 1.648e-05 0 0 0 0 2.997e-05 0 0 rs730882005 20.20 D D D D D D M D D 0.978 D D D 0.957 0.989 0.993 0.492 D D D D D D 4.116 27.900 0.997 D D 0.869 10.286 0.765 9.165 1.000 0.722 0.702 0.725 0.735 . 4.090 4.090 7.829 1.021 0.596 1.000 1.000 1.000 433 p53,_DNA-binding_domain . . ID=COSV52661646;OCCURENCE=1(salivary_gland),25(breast),1(liver),16(oesophagus),19(large_intestine),10(central_nervous_system),3(biliary_tract),13(ovary),1(bone),5(stomach),20(haematopoietic_and_lymphoid_tissue),3(urinary_tract),9(soft_tissue),14(pancreas),2(skin),3(prostate),5(lung),2(thyroid),4(upper_aerodigestive_tract),5(endometrium) TP53 349 0 463 67 0.126415094339623 TRUE TRUE ENSG00000184650.11 . BCM GRCh38.p13 chr17 8340394 8340394 + C C T Missense_Mutation SNP ENST00000328248.7 exon1 c.C343T p.R115C exonic ENSG00000184650.11 . nonsynonymous SNV ENSG00000184650.11:ENST00000328248.7:exon1:c.C343T:p.R115C 17p13.1 C3N-03426 5.923e-05 0 0 0.0008 0 0 0 0 rs557908400 7.20 D D D D N D M T D 0.400 T T T 0.173 0.470 0.390 0.830 T T T T T T 3.055 23.500 0.999 N N 0.258 3.571 0.164 3.014 0.000 0.554 0.547 0.602 0.613 . 4.590 3.620 0.632 1.026 0.599 0.767 0.621 0.520 286 . . . . ODF4 445 1 625 78 0.110953058321479 TRUE NA ENSG00000125414.19 . BCM GRCh38.p13 chr17 10547838 10547838 + T T C Missense_Mutation SNP ENST00000245503.10 exon3 c.A83G p.Q28R exonic ENSG00000125414.19 . nonsynonymous SNV ENSG00000125414.19:ENST00000245503.10:exon3:c.A83G:p.Q28R 17p13.1 C3N-03426 . . . . . . . . . 16.20 D T D D U D M D D 0.696 D D D 0.718 0.473 0.891 1.469 T T D D D D 3.274 24.100 0.998 D D 0.669 6.706 0.656 7.003 1.000 0.615 0.574 0.659 0.564 . 5.670 5.670 4.158 1.049 0.665 1.000 1.000 1.000 356 . . . . MYH2 455 1 516 77 0.129848229342327 TRUE TRUE ENSG00000161395.14 . BCM GRCh38.p13 chr17 39672859 39672859 + C C T Missense_Mutation SNP ENST00000300658.9 exon8 c.G907A p.E303K exonic ENSG00000161395.14 . nonsynonymous SNV ENSG00000161395.14:ENST00000300658.9:exon8:c.G907A:p.E303K 17q12 C3N-03426 . . . . . . . . . 3.19 T T B B N D N . N 0.241 T T T 0.037 0.480 0.126 0.354 T T T T T D 2.165 20.600 0.832 D N -0.913 0.505 -0.705 0.893 1.000 0.706 0.644 0.710 0.700 . 5.330 0.363 0.785 0.129 -0.182 1.000 0.999 0.995 583 . . . ID=COSV99510679;OCCURENCE=1(ovary) PGAP3 260 0 2146 308 0.125509372453138 TRUE TRUE ENSG00000109062.12 . BCM GRCh38.p13 chr17 74763406 74763406 + G G A Missense_Mutation SNP ENST00000262613.10 exon3 c.G643A p.V215M exonic ENSG00000109062.12 . nonsynonymous SNV ENSG00000109062.12:ENST00000262613.10:exon3:c.G643A:p.V215M 17q25.1 C3N-03426 8.423e-05 0 0 0 0.0005 0.0001 0 0 rs766649573 12.20 D D D D D D M T D 0.912 T T D 0.576 0.798 0.726 0.338 T T T D T T 4.213 28.800 0.999 D D 0.860 10.058 0.838 11.343 1.000 0.706 0.725 0.688 0.613 . 5.450 5.450 9.602 1.176 0.618 1.000 0.968 0.884 707 PDZ_domain . . . SLC9A3R1 86 0 163 18 0.0994475138121547 TRUE NA ENSG00000101680.15 . BCM GRCh38.p13 chr18 7035998 7035998 + C C T Missense_Mutation SNP ENST00000389658.4 exon13 c.G1828A p.V610I exonic ENSG00000101680.15 . nonsynonymous SNV ENSG00000101680.15:ENST00000389658.4:exon13:c.G1828A:p.V610I 18p11.31 C3N-03426 3.302e-05 0 0 0 0 0 0 0.0002 rs528185369 2.20 T T P B N D L T N 0.387 T T T 0.128 0.810 0.193 0.229 T T T T T T 1.176 13.450 0.919 D N -0.529 1.120 -0.558 1.109 1.000 0.732 0.563 0.744 0.613 . 5.780 2.020 2.366 -0.213 -0.176 0.971 0.147 0.198 889 Laminin_IV . . ID=COSV67532208;OCCURENCE=1(oesophagus),2(pancreas) LAMA1 338 0 468 102 0.178947368421053 TRUE TRUE ENSG00000141646.14 . BCM GRCh38.p13 chr18 51067108 51067109 + AG AG - Frame_Shift_Del DEL ENST00000342988.8 exon10 c.1229_1230del p.S411Lfs*17 exonic ENSG00000141646.14 . frameshift deletion ENSG00000141646.14:ENST00000342988.8:exon10:c.1229_1230del:p.S411Lfs*17 18q21.2 C3N-03426 . . . . . . . . rs730881952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMAD4 259 0 375 43 0.102870813397129 TRUE NA ENSG00000196757.8 . BCM GRCh38.p13 chr19 11949498 11949498 + C C G Missense_Mutation SNP ENST00000254321.10 exon4 c.C1474G p.H492D exonic ENSG00000196757.8 . nonsynonymous SNV ENSG00000196757.8:ENST00000254321.10:exon4:c.C1474G:p.H492D 19p13.2 C3N-03426 . . . . . . . . . 11.19 D D P P . D M D D 0.407 D D D 0.526 0.891 0.864 0.012 T T D D T T 1.524 15.890 0.770 N N -0.602 0.985 -0.898 0.623 0.004 0.672 0.698 0.702 0.636 . 0.149 0.149 0.620 0.238 0.219 0.002 0.007 0.009 934 Zinc_finger_C2H2-type . . . ZNF700 297 0 487 109 0.182885906040268 TRUE TRUE ENSG00000172519.9 . BCM GRCh38.p13 chr19 15794100 15794100 + T T A Missense_Mutation SNP ENST00000642092.1 exon2 c.T52A p.S18T exonic ENSG00000172519.9 . nonsynonymous SNV ENSG00000172519.9:ENST00000642092.1:exon2:c.T52A:p.S18T 19p13.12 C3N-03426 . . . . . . . . . 6.20 D T D D D N L T D 0.099 T T T 0.069 0.424 0.411 0.378 T T T T D T 2.192 20.800 0.986 N N -0.008 2.484 -0.167 1.866 0.000 0.487 0.574 0.574 0.564 . 3.450 3.450 -0.591 0.812 0.637 0.000 0.039 0.024 976 . . . . OR10H5 141 1 251 24 0.0872727272727273 NA TRUE ENSG00000130479.11 . BCM GRCh38.p13 chr19 17727810 17727810 + C C T Missense_Mutation SNP ENST00000324096.9 exon5 c.C2426T p.S809L exonic ENSG00000130479.11 . nonsynonymous SNV ENSG00000130479.11:ENST00000324096.9:exon5:c.C2426T:p.S809L 19p13.11 C3N-03426 . . . . . . . . . 7.20 T T B B D N M T D 0.508 T T T 0.138 0.351 0.247 0.910 T T T T D D 2.570 22.600 0.995 D D -0.669 0.865 -0.643 0.982 0.124 0.707 0.702 0.723 0.714 . 4.670 2.510 5.646 0.877 -0.202 0.979 0.006 0.001 964 . . . . MAP1S 112 0 194 29 0.130044843049327 TRUE TRUE ENSG00000090372.15 . BCM GRCh38.p13 chr19 46730842 46730842 + - NA GC Frame_Shift_Ins INS ENST00000263280.11 exon6 c.768_769insGC p.L257Afs*37 exonic ENSG00000090372.15 . frameshift insertion ENSG00000090372.15:ENST00000263280.11:exon6:c.768_769insGC:p.L257Afs*37 19q13.32 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . STRN4 NA NA NA NA NA NA NA ENSG00000142405.22 . BCM GRCh38.p13 chr19 53810061 53810061 + C C T Missense_Mutation SNP ENST00000324134.11 exon3 c.G1598A p.G533D exonic ENSG00000142405.22 . nonsynonymous SNV ENSG00000142405.22:ENST00000324134.11:exon3:c.G1598A:p.G533D 19q13.42 C3N-03426 . . . . . . . . . 1.20 T T B B U N N D N 0.124 T T T 0.097 0.374 0.478 0.066 T T T T T T -0.906 0.014 0.615 N N -1.440 0.101 -1.480 0.115 0.856 0.534 0.574 0.686 0.662 . 4.430 -2.420 -1.957 -0.312 -0.983 0.000 0.000 0.000 994 . . . . NLRP12 467 0 667 100 0.130378096479791 TRUE TRUE ENSG00000131864.10 . BCM GRCh38.p13 chr19 57131436 57131436 + C C T Missense_Mutation SNP ENST00000254181.8 exon4 c.C2761T p.P921S exonic ENSG00000131864.10 . nonsynonymous SNV ENSG00000131864.10:ENST00000254181.8:exon4:c.C2761T:p.P921S 19q13.43 C3N-03426 . . . . . . . . . 1.18 D . B B . N N T N 0.094 T T T 0.009 0.236 0.174 0.026 T T T T T T -0.154 0.639 0.629 N N -2.072 0.006 -2.186 0.005 0.416 0.487 0.574 0.574 0.564 . 1.570 -3.130 -2.009 -2.101 -1.114 0.000 0.000 0.006 958 . . . . USP29 44 0 99 10 0.0917431192660551 TRUE TRUE ENSG00000101292.7 . BCM GRCh38.p13 chr20 5302110 5302110 + C C G Missense_Mutation SNP ENST00000217270.3 exon2 c.G1085C p.S362T exonic ENSG00000101292.7 . nonsynonymous SNV ENSG00000101292.7:ENST00000217270.3:exon2:c.G1085C:p.S362T 20p12.3 C3N-03426 . . . . . . . . . 4.20 T T B B D D M T N 0.122 T T T 0.093 0.175 0.678 . T T T T T T 1.655 16.730 0.839 D N -0.111 2.139 0.011 2.398 0.004 0.638 0.574 0.653 0.530 . 5.200 5.200 2.189 1.022 0.596 0.944 0.972 0.317 952 . . . . PROKR2 187 0 277 41 0.128930817610063 TRUE TRUE ENSG00000214078.12 . BCM GRCh38.p13 chr20 35632626 35632626 + C C A Missense_Mutation SNP ENST00000352393.8 exon5 c.G200T p.R67L exonic ENSG00000214078.12 . nonsynonymous SNV ENSG00000214078.12:ENST00000352393.8:exon5:c.G200T:p.R67L 20q11.22 C3N-03426 8.237e-05 9.61e-05 0 0.0010 0 0 0 0 rs142217317 4.20 D T B B U N N T N 0.334 T T T 0.171 . 0.562 0.247 T T T T T D 3.527 24.800 0.994 D D -0.371 1.448 -0.177 1.841 1.000 0.707 0.725 0.725 0.714 . 5.250 4.150 5.158 0.204 -0.114 1.000 0.998 0.991 362 C2_domain . . . CPNE1 247 1 407 37 0.0833333333333333 TRUE TRUE ENSG00000101158.15 . BCM GRCh38.p13 chr20 58994204 58994204 + C C T Missense_Mutation SNP ENST00000652272.2 exon14 c.C1676T p.T559M exonic ENSG00000101158.15 . nonsynonymous SNV ENSG00000101158.15:ENST00000652272.2:exon14:c.C1676T:p.T559M 20q13.32 C3N-03426 8.248e-06 9.645e-05 0 0 0 0 0 0 rs760408804 7.13 . D . . D D . . . 0.457 T T T 0.135 . 0.422 0.720 T . T T D D 2.443 22.300 0.999 D D 0.271 3.633 0.261 3.498 1.000 0.722 0.699 0.702 0.711 . 4.590 3.620 5.671 1.022 0.596 0.997 0.888 0.708 987 . . . . NELFCD 101 0 178 25 0.123152709359606 TRUE NA ENSG00000243509.6 . BCM GRCh38.p13 chr20 63696933 63696933 + A A G Missense_Mutation SNP ENST00000369996.3 exon1 c.A166G p.T56A exonic ENSG00000243509.6 . nonsynonymous SNV ENSG00000243509.6:ENST00000369996.3:exon1:c.A166G:p.T56A 20q13.33 C3N-03426 . . . . . . . . . 8.19 D T P B . N M T D 0.391 T T D 0.471 0.324 0.578 0.104 T D T T D T 3.011 23.400 0.994 D D 0.197 3.289 0.183 3.100 1.000 0.652 0.611 0.641 0.581 . 3.890 3.890 4.089 1.118 0.756 0.997 0.136 0.419 . Tumor_necrosis_factor_receptor_6B,_N-terminal;TNFR/NGFR_cysteine-rich_region . . . TNFRSF6B 230 0 265 29 0.0986394557823129 TRUE TRUE ENSG00000101958.14 . BCM GRCh38.p13 chrX 14730231 14730231 + C C T Missense_Mutation SNP ENST00000218075.9 exon9 c.C1105T p.R369C exonic ENSG00000101958.14 . nonsynonymous SNV ENSG00000101958.14:ENST00000218075.9:exon9:c.C1105T:p.R369C Xp22.2 C3N-03426 . . . . . . . . . 18.19 D D D D D D L D D 0.544 D D D 0.652 0.590 0.905 2.624 D D D D D D 3.891 26.300 0.999 D . . . . . 1.000 . . . . . 5.200 5.200 4.879 1.026 0.549 1.000 1.000 0.994 146 . . . . GLRA2 213 0 309 35 0.101744186046512 TRUE NA ENSG00000101892.12 . BCM GRCh38.p13 chrX 120366635 120366635 + G G T Missense_Mutation SNP ENST00000218008.8 exon2 c.G174T p.E58D exonic ENSG00000101892.12 . nonsynonymous SNV ENSG00000101892.12:ENST00000218008.8:exon2:c.G174T:p.E58D Xq24 C3N-03426 . . . . . . . . . 2.19 T D B B N N N T N 0.190 T T T 0.039 0.096 0.432 0.141 T T T T T T 0.261 3.838 0.988 D . . . . . 1.000 . . . . . 4.310 0.493 0.181 0.206 -0.166 0.157 0.852 0.076 924 . . . . ATP1B4 376 0 521 69 0.116949152542373 TRUE TRUE ENSG00000169551.12 . BCM GRCh38.p13 chrX 135169755 135169755 + G G A Nonsense_Mutation SNP ENST00000276241.10 exon2 c.C118T p.Q40X exonic ENSG00000169551.12 . stopgain ENSG00000169551.12:ENST00000276241.10:exon2:c.C118T:p.Q40X Xq26.3 C3N-03426 . . . . . . . . . 2.5 . . . . N A . . . 0.118 . . . . . . . . . D T . . 3.931 26.500 0.993 N . . . . . 0.125 . . . . . 2.610 0.599 1.038 1.043 0.575 0.566 0.014 0.195 512 S1-like_RNA_binding_domain . . . CT55 80 0 148 20 0.119047619047619 NA TRUE ENSG00000102245.8 . BCM GRCh38.p13 chrX 136648280 136648280 + G G A Missense_Mutation SNP ENST00000370629.7 exon1 c.G32A p.R11Q exonic ENSG00000102245.8 . nonsynonymous SNV ENSG00000102245.8:ENST00000370629.7:exon1:c.G32A:p.R11Q Xq26.3 C3N-03426 0.0001 0.0001 0.0001 0 0 0.0002 0 0 rs145115086 5.19 D T D P N N L T N 0.189 T T D 0.297 . 0.785 1.335 T D T T T D 2.684 22.800 0.999 N . . . . . 0.944 . . . . . 5.800 3.940 4.201 1.176 0.674 0.622 0.994 0.904 155 . . . ID=COSV65698277;OCCURENCE=1(large_intestine),1(skin) CD40LG 309 0 490 58 0.105839416058394 TRUE TRUE ENSG00000154027.19 . BCM GRCh38.p13 chr1 77293961 77293961 + G G T Splice_Site SNP NA NA NA NA splicing ENSG00000154027.19 ENST00000354567.7:exon3:c.415+1G>T . . 1p31.1 C3N-03426 . . . . . . . . . 4.4 . . . . . D . . . . . . . . . . . . . D D . . 5.845 35 0.995 D . 1.164 20.895 0.998 18.706 1.000 0.075 0.063 0.079 0.102 0.972 5.130 5.130 9.532 1.176 0.676 1.000 1.000 0.948 835 . . . . AK5 159 0 298 21 0.0658307210031348 TRUE TRUE ENSG00000117114.20 . BCM GRCh38.p13 chr1 81966408 81966408 + T T A Silent SNP ENST00000370728.5 exon15 c.T2136A p.L712L exonic ENSG00000117114.20 . synonymous SNV ENSG00000117114.20:ENST00000370728.5:exon15:c.T2136A:p.L712L 1p31.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ADGRL2 162 0 221 60 0.213523131672598 TRUE TRUE ENSG00000143376.14 . BCM GRCh38.p13 chr1 151638960 151638960 + G G A Silent SNP ENST00000458013.7 exon2 c.G384A p.L128L exonic ENSG00000143376.14 . synonymous SNV ENSG00000143376.14:ENST00000458013.7:exon2:c.G384A:p.L128L 1q21.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SNX27 354 0 591 56 0.0865533230293663 TRUE TRUE ENSG00000067704.10 . BCM GRCh38.p13 chr1 220103468 220103468 + T T G Silent SNP ENST00000366922.3 exon8 c.T972G p.S324S exonic ENSG00000067704.10 . synonymous SNV ENSG00000067704.10:ENST00000366922.3:exon8:c.T972G:p.S324S 1q41 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IARS2 109 0 180 26 0.12621359223301 TRUE TRUE ENSG00000138079.14 . BCM GRCh38.p13 chr2 44320363 44320363 + C C T Silent SNP ENST00000260649.11 exon10 c.C1782T p.I594I exonic ENSG00000138079.14 . synonymous SNV ENSG00000138079.14:ENST00000260649.11:exon10:c.C1782T:p.I594I 2p21 C3N-03426 3.296e-05 0 0 0 0 5.996e-05 0 0 rs373561366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC3A1 239 0 368 40 0.0980392156862745 TRUE NA ENSG00000163645.15 . BCM GRCh38.p13 chr3 150660075 150660075 + G G T Silent SNP ENST00000295910.11 exon14 c.C1809A p.I603I exonic ENSG00000163645.15 . synonymous SNV ENSG00000163645.15:ENST00000295910.11:exon14:c.C1809A:p.I603I 3q25.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ERICH6 217 0 322 29 0.0826210826210826 TRUE TRUE ENSG00000153147.6 . BCM GRCh38.p13 chr4 143553160 143553160 + A A G Silent SNP ENST00000283131.4 exon24 c.A3135G p.G1045G exonic ENSG00000153147.6 . synonymous SNV ENSG00000153147.6:ENST00000283131.4:exon24:c.A3135G:p.G1045G 4q31.21 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SMARCA5 201 0 358 56 0.135265700483092 TRUE TRUE ENSG00000165097.16 . BCM GRCh38.p13 chr6 18221911 18221911 + A A C Silent SNP ENST00000650836.2 exon22 c.A2388C p.A796A exonic ENSG00000165097.16 . synonymous SNV ENSG00000165097.16:ENST00000650836.2:exon22:c.A2388C:p.A796A 6p22.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . KDM1B 42 0 84 16 0.16 TRUE TRUE ENSG00000122507.21 . BCM GRCh38.p13 chr7 33273942 33273942 + A A G Silent SNP ENST00000242067.11 exon9 c.A1002G p.R334R exonic ENSG00000122507.21 . synonymous SNV ENSG00000122507.21:ENST00000242067.11:exon9:c.A1002G:p.R334R 7p14.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BBS9 301 0 445 117 0.208185053380783 TRUE TRUE ENSG00000002746.15 . BCM GRCh38.p13 chr7 43507192 43507192 + C C G Silent SNP ENST00000395891.7 exon22 c.C3687G p.A1229A exonic ENSG00000002746.15 . synonymous SNV ENSG00000002746.15:ENST00000395891.7:exon22:c.C3687G:p.A1229A 7p13 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HECW1 221 0 454 40 0.0809716599190283 TRUE TRUE ENSG00000170681.7 . BCM GRCh38.p13 chr9 100578437 100578437 + T T G Silent SNP ENST00000307584.6 exon1 c.T294G p.A98A exonic ENSG00000170681.7 . synonymous SNV ENSG00000170681.7:ENST00000307584.6:exon1:c.T294G:p.A98A 9q31.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CAVIN4 164 0 241 38 0.136200716845878 TRUE TRUE ENSG00000197748.13 . BCM GRCh38.p13 chr10 104179089 104179089 + A A G Silent SNP ENST00000357060.8 exon19 c.T2400C p.V800V exonic ENSG00000197748.13 . synonymous SNV ENSG00000197748.13:ENST00000357060.8:exon19:c.T2400C:p.V800V 10q25.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CFAP43 92 0 145 23 0.136904761904762 TRUE TRUE ENSG00000184363.10 . BCM GRCh38.p13 chr11 396966 396966 + T T C Silent SNP ENST00000331563.7 exon3 c.T465C p.P155P exonic ENSG00000184363.10 . synonymous SNV ENSG00000184363.10:ENST00000331563.7:exon3:c.T465C:p.P155P 11p15.5 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKP3 155 0 225 29 0.114173228346457 TRUE TRUE ENSG00000260916.7 . BCM GRCh38.p13 chr15 55371965 55371965 + G G A Silent SNP ENST00000310958.10 exon6 c.C534T p.R178R exonic ENSG00000260916.7 . synonymous SNV ENSG00000260916.7:ENST00000310958.10:exon6:c.C534T:p.R178R 15q21.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CCPG1 254 0 324 35 0.0974930362116992 TRUE TRUE ENSG00000066933.16 . BCM GRCh38.p13 chr15 72046429 72046429 + C C G Silent SNP ENST00000356056.10 exon2 c.G135C p.V45V exonic ENSG00000066933.16 . synonymous SNV ENSG00000066933.16:ENST00000356056.10:exon2:c.G135C:p.V45V 15q23 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MYO9A 77 0 172 17 0.0899470899470899 TRUE TRUE ENSG00000167971.16 . BCM GRCh38.p13 chr16 2189244 2189244 + G G A Silent SNP ENST00000343516.8 exon5 c.C480T p.R160R exonic ENSG00000167971.16 . synonymous SNV ENSG00000167971.16:ENST00000343516.8:exon5:c.C480T:p.R160R 16p13.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58878374;OCCURENCE=1(prostate) CASKIN1 217 0 402 74 0.15546218487395 TRUE TRUE ENSG00000130176.8 . BCM GRCh38.p13 chr19 11541174 11541174 + C C G Silent SNP ENST00000252456.7 exon2 c.C162G p.L54L exonic ENSG00000130176.8 . synonymous SNV ENSG00000130176.8:ENST00000252456.7:exon2:c.C162G:p.L54L 19p13.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CNN1 58 0 130 7 0.0510948905109489 TRUE TRUE ENSG00000130479.11 . BCM GRCh38.p13 chr19 17727493 17727493 + G G A Silent SNP ENST00000324096.9 exon5 c.G2109A p.E703E exonic ENSG00000130479.11 . synonymous SNV ENSG00000130479.11:ENST00000324096.9:exon5:c.G2109A:p.E703E 19p13.11 C3N-03426 . . . . . . . . . 2.9 . T . . . D . T . . . . . . . 0.871 . . T T T . T 0.875 10.170 0.714 D N . . . . 0.109 0.672 0.702 0.571 0.711 . 4.600 4.600 0.990 0.065 0.526 1.000 0.208 0.632 964 . . . . MAP1S 261 0 416 27 0.0609480812641084 TRUE TRUE ENSG00000185453.13 . BCM GRCh38.p13 chr19 48182653 48182653 + C C T Silent SNP ENST00000328759.11 exon3 c.C474T p.F158F exonic ENSG00000185453.13 . synonymous SNV ENSG00000185453.13:ENST00000328759.11:exon3:c.C474T:p.F158F 19q13.33 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV60888153;OCCURENCE=2(central_nervous_system),1(skin) ZSWIM9 530 0 677 82 0.108036890645586 TRUE TRUE ENSG00000179873.14 . BCM GRCh38.p13 chr19 55792342 55792342 + C C T Silent SNP ENST00000589093.5 exon7 c.G2472A p.T824T exonic ENSG00000179873.14 . synonymous SNV ENSG00000179873.14:ENST00000589093.5:exon7:c.G2472A:p.T824T 19q13.42 C3N-03426 9.065e-05 0.0003 0.0003 0.0005 0 1.5e-05 0 0 rs370425219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100789633;OCCURENCE=1(large_intestine) NLRP11 108 0 153 26 0.145251396648045 TRUE NA ENSG00000269343.8 . BCM GRCh38.p13 chr19 57841553 57841553 + T T C Silent SNP ENST00000442832.8 exon3 c.T879C p.T293T exonic ENSG00000269343.8 . synonymous SNV ENSG00000269343.8:ENST00000442832.8:exon3:c.T879C:p.T293T 19q13.43 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF587B 276 0 446 39 0.0804123711340206 NA TRUE ENSG00000133454.16 . BCM GRCh38.p13 chr22 26027273 26027273 + C C T Silent SNP ENST00000335473.12 exon43 c.C7299T p.Y2433Y exonic ENSG00000133454.16 . synonymous SNV ENSG00000133454.16:ENST00000335473.12:exon43:c.C7299T:p.Y2433Y 22q12.1 C3N-03426 0.0002 0.0001 0 0.0001 0 4.496e-05 0.0011 0.0015 rs554059290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59140899;OCCURENCE=3(large_intestine),1(central_nervous_system) MYO18B 270 0 384 53 0.121281464530892 TRUE TRUE ENSG00000183741.12 . BCM GRCh38.p13 chr22 38866922 38866922 + G G A Silent SNP ENST00000407418.8 exon5 c.C526T p.L176L exonic ENSG00000183741.12 . synonymous SNV ENSG00000183741.12:ENST00000407418.8:exon5:c.C526T:p.L176L 22q13.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CBX6 102 0 179 27 0.131067961165049 TRUE TRUE ENSG00000100207.18 . BCM GRCh38.p13 chr22 42213479 42213479 + G G A Silent SNP ENST00000359486.7 exon1 c.C1827T p.S609S exonic ENSG00000100207.18 . synonymous SNV ENSG00000100207.18:ENST00000359486.7:exon1:c.C1827T:p.S609S 22q13.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV59490731;OCCURENCE=1(skin) TCF20 276 0 448 40 0.0819672131147541 TRUE TRUE ENSG00000234068.7 . BCM GRCh38.p13 chrX 55090089 55090089 + G G A Silent SNP ENST00000374968.9 exon2 c.G69A p.P23P exonic ENSG00000234068.7 . synonymous SNV ENSG00000234068.7:ENST00000374968.9:exon2:c.G69A:p.P23P Xp11.21 C3N-03426 0.0004 0 0.0002 0.0038 0 0.0001 0.0016 0 rs369034281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV66596195;OCCURENCE=1(large_intestine) PAGE2 145 1 252 22 0.0802919708029197 NA TRUE ENSG00000089472.16 . BCM GRCh38.p13 chrX 66172511 66172511 + G G T Silent SNP ENST00000343002.6 exon2 c.G324T p.G108G exonic ENSG00000089472.16 . synonymous SNV ENSG00000089472.16:ENST00000343002.6:exon2:c.G324T:p.G108G Xq12 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HEPH 154 0 236 23 0.0888030888030888 TRUE TRUE ENSG00000134588.12 . BCM GRCh38.p13 chrX 133025806 133025806 + C C T Silent SNP ENST00000511190.5 exon6 c.G2415A p.K805K exonic ENSG00000134588.12 . synonymous SNV ENSG00000134588.12:ENST00000511190.5:exon6:c.G2415A:p.K805K Xq26.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP26 242 0 424 59 0.122153209109731 TRUE TRUE ENSG00000156925.12 . BCM GRCh38.p13 chrX 137567213 137567213 + G G A Silent SNP ENST00000287538.10 exon1 c.G522A p.S174S exonic ENSG00000156925.12 . synonymous SNV ENSG00000156925.12:ENST00000287538.10:exon1:c.G522A:p.S174S Xq26.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54973791;OCCURENCE=1(large_intestine) ZIC3 177 0 266 28 0.0952380952380952 TRUE TRUE ENSG00000198910.14 . BCM GRCh38.p13 chrX 153866848 153866848 + G G A Silent SNP ENST00000370060.7 exon19 c.C2232T p.N744N exonic ENSG00000198910.14 . synonymous SNV ENSG00000198910.14:ENST00000370060.7:exon19:c.C2232T:p.N744N Xq28 C3N-03426 0.0001 0.0002 0 0 0 0.0002 0 0 rs201081454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . L1CAM 212 0 301 46 0.132564841498559 TRUE NA ENSG00000143156.14 . BCM GRCh38.p13 chr1 169287260 169287260 + C C G Intron SNP NA NA NA NA intronic ENSG00000143156.14 . . . 1q24.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NME7 42 0 117 13 0.1 TRUE NA ENSG00000226080.1 . BCM GRCh38.p13 chr2 11120900 11120900 + T T G IGR SNP NA NA NA NA intergenic ENSG00000226080.1;ENSG00000145063.15 dist=17903;dist=6588 . . 2p25.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RPL6P4 159 0 273 39 0.125 TRUE NA ENSG00000182814.7 . BCM GRCh38.p13 chr2 84290939 84290939 + G G T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000182814.7 . . . 2p11.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FUNDC2P2 380 0 486 55 0.101663585951941 TRUE NA ENSG00000112137.17 . BCM GRCh38.p13 chr6 12749573 12749573 + C C G Intron SNP NA NA NA NA intronic ENSG00000112137.17 . . . 6p24.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PHACTR1 86 0 118 15 0.112781954887218 TRUE NA ENSG00000236861.6 . BCM GRCh38.p13 chr7 93976046 93976046 + A A T RNA SNP NA NA NA NA ncRNA_intronic ENSG00000236861.6 . . . 7q21.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BET1-AS1 45 0 102 8 0.0727272727272727 TRUE NA ENSG00000253114.2 . BCM GRCh38.p13 chr8 54738993 54738993 + T T C IGR SNP NA NA NA NA intergenic ENSG00000253114.2;ENSG00000286348.1 dist=41866;dist=328592 . . 8q12.1 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC090151.1 112 0 185 19 0.0931372549019608 TRUE TRUE ENSG00000285982.1 . BCM GRCh38.p13 chr8 103415344 103415344 + T T C Intron SNP NA NA NA NA intronic ENSG00000285982.1 . . . 8q22.3 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV52567093;OCCURENCE=2(breast),4(oesophagus),4(large_intestine),7(stomach),1(urinary_tract) AC012213.5 225 0 609 60 0.0896860986547085 TRUE TRUE ENSG00000241621.1 . BCM GRCh38.p13 chr10 30365238 30365238 + T T C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000241621.1 . . . 10p11.23 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GOLGA2P6 274 0 514 68 0.116838487972509 TRUE NA ENSG00000261239.6 . BCM GRCh38.p13 chr16 46498150 46498150 + A A C RNA SNP NA NA NA NA ncRNA_exonic ENSG00000261239.6 . . . 16q11.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ANKRD26P1 174 0 299 40 0.117994100294985 TRUE NA ENSG00000075429.9 . BCM GRCh38.p13 chr17 66884775 66884775 + C C A Intron SNP NA NA NA NA intronic ENSG00000075429.9 . . . 17q24.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CACNG5 275 0 386 106 0.215447154471545 TRUE NA ENSG00000203618.6 . BCM GRCh38.p13 chr22 19723622 19723622 + C C A Intron SNP NA NA NA NA intronic ENSG00000203618.6;ENSG00000284874.1 . . . 22q11.21 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . GP1BB 152 0 218 21 0.0878661087866109 TRUE NA ENSG00000165509.13 . BCM GRCh38.p13 chrX 141895448 141895448 + G G A Intron SNP NA NA NA NA intronic ENSG00000165509.13 . . . Xq27.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAGEC3 330 0 438 55 0.111561866125761 TRUE NA ENSG00000076984.17 . BCM GRCh38.p13 chr19 7911485 7911487 + TTG TTG ATA Unknown MNP ENST00000397979.3 exon9 c.986_988delinsATA p.F329_E330delinsYK exonic ENSG00000076984.17 . nonframeshift substitution ENSG00000076984.17:ENST00000397979.3:exon9:c.986_988delinsATA:p.F329_E330delinsYK 19p13.2 C3N-03426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MAP2K7 123 17 175 18 0.0932642487046632 TRUE NA ENSG00000162592.10 . BCM GRCh38.p13 chr1 3763246 3763246 + G G A Missense_Mutation SNP ENST00000294600.7 exon7 c.G1093A p.V365M exonic ENSG00000162592.10 . nonsynonymous SNV ENSG00000162592.10:ENST00000294600.7:exon7:c.G1093A:p.V365M 1p36.32 C3N-00198 0.0001 0 0 0 0 0.0003 0 0 rs374982967 0.20 T T B B N N L T N 0.063 T T T 0.013 . 0.067 0.127 T T T T T T -0.270 0.361 0.619 N N -1.815 0.022 -1.910 0.021 0.999 0.497 0.590 0.578 0.542 . 3.680 -7.070 -1.560 -1.522 -2.983 0.000 0.000 0.000 803 . . . . CCDC27 99 0 161 12 0.069364161849711 TRUE NA ENSG00000115641.19 . BCM GRCh38.p13 chr2 105373675 105373675 + C C T Missense_Mutation SNP ENST00000409177.6 exon3 c.G215A p.R72K exonic ENSG00000115641.19 . nonsynonymous SNV ENSG00000115641.19:ENST00000409177.6:exon3:c.G215A:p.R72K 2q12.2 C3N-00198 . . . . . . . . . 3.20 T T B B N D N D N 0.199 T T D 0.153 0.396 0.679 . T T T T T T 0.858 9.983 0.905 N N -1.113 0.295 -0.963 0.537 1.000 0.646 0.517 0.702 0.723 . 4.930 0.195 1.870 -0.440 -0.177 1.000 0.495 0.972 895 Zinc_finger,_LIM-type . . . FHL2 383 0 796 62 0.0722610722610723 TRUE TRUE ENSG00000176771.17 . BCM GRCh38.p13 chr2 132782438 132782438 + G G A Missense_Mutation SNP ENST00000409261.6 exon14 c.C4373T p.A1458V exonic ENSG00000176771.17 . nonsynonymous SNV ENSG00000176771.17:ENST00000409261.6:exon14:c.C4373T:p.A1458V 2q21.2 C3N-00198 9.142e-05 0.0008 8.649e-05 0 0 3.006e-05 0 0 rs112873686 0.19 T T B B . N N T N 0.039 T T T 0.040 . 0.043 0.039 T T T T T T -0.186 0.547 0.874 N N -1.474 0.089 -1.453 0.127 0.001 0.554 0.574 0.618 0.621 . 5.500 -1.710 -0.466 -0.203 -0.831 0.000 0.036 0.288 976 . . . ID=COSV58452392;OCCURENCE=1(large_intestine) NCKAP5 150 0 194 34 0.149122807017544 TRUE TRUE ENSG00000177917.11 . BCM GRCh38.p13 chr2 152718772 152718772 + C C G Missense_Mutation SNP ENST00000326446.10 exon1 c.C148G p.Q50E exonic ENSG00000177917.11 . nonsynonymous SNV ENSG00000177917.11:ENST00000326446.10:exon1:c.C148G:p.Q50E 2q23.3 C3N-00198 . . . . . . . . . 0.19 T T B B N N L . N 0.160 T T T 0.036 0.235 0.530 0.233 T T T T T T 1.910 18.570 0.944 N N -0.593 1.000 -0.528 1.157 1.000 0.442 0.522 0.504 0.562 . 4.500 3.550 1.117 1.026 0.599 0.561 0.990 0.982 407 . . . . ARL6IP6 80 0 172 15 0.0802139037433155 TRUE TRUE ENSG00000130414.12 . BCM GRCh38.p13 chr2 240021226 240021226 + G G C Nonsense_Mutation SNP ENST00000252711.7 exon3 c.C431G p.S144X exonic ENSG00000130414.12 . stopgain ENSG00000130414.12:ENST00000252711.7:exon3:c.C431G:p.S144X 2q37.3 C3N-00198 . . . . . . . . . 5.6 . . . . N D . . . 0.245 . . . . . . . . . D D . . 6.376 35 0.993 D D 0.670 6.722 0.393 4.309 1.000 0.719 0.723 0.725 0.714 . 4.650 3.750 9.327 1.155 0.676 1.000 0.005 0.006 970 Deoxynucleoside_kinase_domain . . . NDUFA10 287 0 570 51 0.0821256038647343 TRUE TRUE ENSG00000145220.14 . BCM GRCh38.p13 chr4 4274750 4274750 + T T A Missense_Mutation SNP ENST00000343470.9 exon7 c.A449T p.Q150L exonic ENSG00000145220.14 . nonsynonymous SNV ENSG00000145220.14:ENST00000343470.9:exon7:c.A449T:p.Q150L 4p16.3 C3N-00198 . . . . . . . . . 1.15 T T . . N N . T D 0.235 T T T 0.059 0.132 0.230 0.064 T . T T T . 0.898 10.410 0.819 N N -1.004 0.399 -1.092 0.384 0.006 0.707 0.725 0.725 0.714 . 5.110 -2.750 0.032 1.028 0.665 0.051 0.015 0.303 912 . . . . LYAR 120 0 224 15 0.0627615062761506 TRUE TRUE ENSG00000177752.14 . BCM GRCh38.p13 chr4 44650009 44650009 + T T C Missense_Mutation SNP ENST00000332990.5 exon2 c.A164G p.Y55C exonic ENSG00000177752.14 . nonsynonymous SNV ENSG00000177752.14:ENST00000332990.5:exon2:c.A164G:p.Y55C 4p12 C3N-00198 . . . . . . . . rs200301066 2.20 T T B B N N L T D 0.191 T T T 0.098 0.253 0.169 0.009 T T T T T T 1.144 13.180 0.264 D N -0.699 0.814 -0.676 0.935 0.000 0.487 0.574 0.574 0.564 . 5.040 2.610 2.035 0.184 -0.113 0.187 0.766 0.046 625 . . . . YIPF7 137 0 147 14 0.0869565217391304 TRUE NA ENSG00000196159.12 . BCM GRCh38.p13 chr4 125398851 125398851 + C C T Missense_Mutation SNP ENST00000674496.1 exon2 c.C5243T p.T1748M exonic ENSG00000196159.12 . nonsynonymous SNV ENSG00000196159.12:ENST00000674496.1:exon2:c.C5243T:p.T1748M 4q28.1 C3N-00198 8.244e-06 9.61e-05 0 0 0 0 0 0 rs202038981 10.20 D D D D U D M T D 0.823 T T D 0.231 0.421 0.275 0.661 T T T T T D 3.522 24.800 0.999 D N 0.532 5.294 0.494 5.102 1.000 0.707 0.574 0.653 0.714 . 5.810 4.970 4.555 1.026 0.599 1.000 0.884 0.790 928 Cadherin-like . . ID=COSV100629122;OCCURENCE=1(stomach) FAT4 178 0 300 26 0.0797546012269939 TRUE NA ENSG00000113100.10 . BCM GRCh38.p13 chr5 26902606 26902606 + C C T Missense_Mutation SNP ENST00000231021.9 exon7 c.G1123A p.E375K exonic ENSG00000113100.10 . nonsynonymous SNV ENSG00000113100.10:ENST00000231021.9:exon7:c.G1123A:p.E375K 5p14.1 C3N-00198 . . . . . . . . . 9.20 D T B P D D M T D 0.567 T T T 0.125 0.516 0.559 0.697 T T T T D D 2.553 22.500 0.999 D D 0.284 3.698 0.382 4.235 0.810 0.554 0.574 0.602 0.564 . 5.620 5.620 2.971 1.026 0.599 1.000 1.000 0.998 781 Cadherin-like . . ID=COSV50483092;OCCURENCE=1(large_intestine),1(skin) CDH9 247 0 327 18 0.0521739130434783 TRUE NA ENSG00000255408.4 . BCM GRCh38.p13 chr5 140802552 140802552 + C C T Missense_Mutation SNP ENST00000522353.3 exon1 c.C1355T p.A452V exonic ENSG00000255408.4 . nonsynonymous SNV ENSG00000255408.4:ENST00000522353.3:exon1:c.C1355T:p.A452V 5q31.3 C3N-00198 . . . . . . . . . 7.19 D D P P U D M T D 0.388 T T D 0.214 0.536 0.643 . . T T T D T 2.277 21.400 0.997 N N -0.051 2.336 -0.121 1.988 0.673 0.615 0.574 0.659 0.542 . 4.750 3.880 0.084 1.002 0.545 0.000 0.739 0.467 18 Cadherin_conserved_site;Cadherin-like . . ID=COSV100793689;OCCURENCE=1(central_nervous_system) PCDHA3 532 0 911 57 0.0588842975206612 NA TRUE ENSG00000135074.16 . BCM GRCh38.p13 chr5 157490436 157490436 + G G C Missense_Mutation SNP ENST00000517905.1 exon19 c.C2114G p.A705G exonic ENSG00000135074.16 . nonsynonymous SNV ENSG00000135074.16:ENST00000517905.1:exon19:c.C2114G:p.A705G 5q33.3 C3N-00198 . . . . . . . . . 7.20 D D D P N D L T D 0.357 T T T 0.117 0.529 0.573 0.235 T T T T D T 3.066 23.600 0.997 D N 0.105 2.906 0.123 2.831 1.000 0.706 0.702 0.710 0.714 . 5.410 5.410 2.647 1.176 0.676 0.965 0.479 0.697 808 . . . . ADAM19 134 0 246 25 0.0922509225092251 TRUE TRUE ENSG00000221900.6 . BCM GRCh38.p13 chr7 53035981 53035981 + G G A Missense_Mutation SNP ENST00000408890.6 exon1 c.G310A p.G104R exonic ENSG00000221900.6 . nonsynonymous SNV ENSG00000221900.6:ENST00000408890.6:exon1:c.G310A:p.G104R 7p12.1 C3N-00198 8.703e-06 0 0 0 0 1.588e-05 0 0 rs780329329 1.19 T T D P . N L T N 0.164 T T T 0.142 0.198 0.061 0.413 T T T T T T 0.196 3.073 0.794 N N -1.094 0.311 -1.338 0.185 0.001 0.487 0.574 0.547 0.564 . 2.520 -5.040 -1.921 -0.587 -1.028 0.000 0.000 0.000 981 . . . . POM121L12 192 0 378 36 0.0869565217391304 TRUE NA ENSG00000157764.13 . BCM GRCh38.p13 chr7 140778034 140778048 + GTGTAGGTGCTGTCA GTGTAGGTGCTGTCA - In_Frame_Del DEL ENST00000646891.1 exon12 c.1460_1474del p.V487_P492delinsA exonic ENSG00000157764.13 . nonframeshift deletion ENSG00000157764.13:ENST00000646891.1:exon12:c.1460_1474del:p.V487_P492delinsA 7q34 C3N-00198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV56194068;OCCURENCE=1(thyroid) BRAF 517 0 579 46 0.0736 TRUE TRUE ENSG00000106123.12 . BCM GRCh38.p13 chr7 142864524 142864524 + T T G Missense_Mutation SNP ENST00000652003.1 exon7 c.T724G p.S242A exonic ENSG00000106123.12 . nonsynonymous SNV ENSG00000106123.12:ENST00000652003.1:exon7:c.T724G:p.S242A 7q34 C3N-00198 . . . . . . . . . 2.14 . T . . D D . . . 0.088 T T T 0.114 . 0.494 . T T T T T T 1.289 14.300 0.971 N N -0.328 1.546 -0.352 1.461 0.984 0.696 0.590 0.723 0.586 . 5.170 2.760 0.379 1.138 0.665 0.006 0.986 0.813 720 . . . . EPHB6 270 1 365 34 0.0852130325814536 TRUE TRUE ENSG00000147889.17 . BCM GRCh38.p13 chr9 21971125 21971126 + GA GA - Frame_Shift_Del DEL ENST00000304494.9 exon2 c.233_234del p.L78Hfs*41 exonic ENSG00000147889.17 . frameshift deletion ENSG00000147889.17:ENST00000304494.9:exon2:c.233_234del:p.L78Hfs*41 9p21.3 C3N-00198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CDKN2A 431 0 776 97 0.111111111111111 NA TRUE ENSG00000149090.11 . BCM GRCh38.p13 chr11 35435975 35435975 + G G A Missense_Mutation SNP ENST00000619888.4 exon9 c.C1261T p.R421C exonic ENSG00000149090.11 . nonsynonymous SNV ENSG00000149090.11:ENST00000619888.4:exon9:c.C1261T:p.R421C 11p13 C3N-00198 6.59e-05 0 8.64e-05 0.0001 0 7.492e-05 0 6.057e-05 rs182409377 14.19 . D D D D D L D N 0.702 D D D 0.641 . 0.760 . T T D D T D 4.653 32 0.999 D D 0.726 7.498 0.776 9.447 1.000 0.693 0.563 0.659 0.542 . 5.540 5.540 10.003 1.176 0.676 1.000 0.999 0.978 846 Sushi/SCR/CCP_domain . . ID=COSV53515400;OCCURENCE=1(lung) PAMR1 236 0 510 32 0.0590405904059041 TRUE TRUE ENSG00000135443.8 . BCM GRCh38.p13 chr12 52367257 52367257 + C C T Missense_Mutation SNP ENST00000257901.7 exon1 c.G149A p.G50D exonic ENSG00000135443.8 . nonsynonymous SNV ENSG00000135443.8:ENST00000257901.7:exon1:c.G149A:p.G50D 12q13.13 C3N-00198 . . . . . . . . . 15.20 D D B B D D H D D 0.536 D D D 0.610 0.537 0.856 1.257 T D D D D T 2.341 21.800 0.991 D N -0.313 1.582 -0.266 1.636 0.478 0.497 0.590 0.578 0.530 . 4.740 2.750 0.362 1.026 0.599 0.003 0.981 0.955 621 . . . . KRT85 203 0 308 37 0.107246376811594 TRUE TRUE ENSG00000151952.16 . BCM GRCh38.p13 chr12 129700140 129700140 + C C T Missense_Mutation SNP ENST00000422113.7 exon2 c.G638A p.R213K exonic ENSG00000151952.16 . nonsynonymous SNV ENSG00000151952.16:ENST00000422113.7:exon2:c.G638A:p.R213K 12q24.33 C3N-00198 3.382e-05 0.0003 8.702e-05 0 0 0 0 0 rs531652243 0.20 T T B B N N N T N 0.135 T T T 0.049 . 0.043 0.241 T T T T T T -0.085 0.890 0.665 N N -1.315 0.157 -1.186 0.295 0.001 0.615 0.574 0.659 0.564 . 5.350 0.631 1.064 -1.764 -0.731 1.000 0.000 0.010 994 . . . ID=COSV70605601;OCCURENCE=1(prostate) TMEM132D 220 0 426 26 0.0575221238938053 NA TRUE ENSG00000153487.13 . BCM GRCh38.p13 chr13 110719573 110719573 + A A T Missense_Mutation SNP ENST00000333219.9 exon2 c.A481T p.N161Y exonic ENSG00000153487.13 . nonsynonymous SNV ENSG00000153487.13:ENST00000333219.9:exon2:c.A481T:p.N161Y 13q34 C3N-00198 9.086e-06 0 9.549e-05 0 0 0 0 0 rs772040695 12.19 D D D D D D . T D 0.584 T T D 0.112 0.235 0.767 2.313 T T T T D D 3.513 24.800 0.989 D D 0.496 5.003 0.440 4.651 1.000 0.672 0.702 0.607 0.636 . 5.360 5.360 6.439 1.228 0.587 1.000 0.942 0.253 982 . . . . ING1 175 1 299 67 0.183060109289617 TRUE NA ENSG00000100503.24 . BCM GRCh38.p13 chr14 50758022 50758022 + C C T Missense_Mutation SNP ENST00000382041.7 exon18 c.G3008A p.R1003Q exonic ENSG00000100503.24 . nonsynonymous SNV ENSG00000100503.24:ENST00000382041.7:exon18:c.G3008A:p.R1003Q 14q22.1 C3N-00198 3.295e-05 0 8.637e-05 0 0 0 0 0.0002 rs146902294 1.20 T T B B N N N T N 0.106 T T T 0.054 . 0.173 0.147 T T T T T D 0.499 6.493 0.974 N N -1.012 0.392 -0.943 0.562 0.999 0.732 0.696 0.744 0.714 . 5.330 0.448 -0.270 -0.216 0.599 0.000 0.805 0.719 434 . . . . NIN 232 0 362 20 0.0523560209424084 TRUE NA ENSG00000100678.19 . BCM GRCh38.p13 chr14 70167662 70167662 + C C T Missense_Mutation SNP ENST00000381269.6 exon2 c.G761A p.R254Q exonic ENSG00000100678.19 . nonsynonymous SNV ENSG00000100678.19:ENST00000381269.6:exon2:c.G761A:p.R254Q 14q24.2 C3N-00198 8.242e-06 0 0 0 0 0 0 6.058e-05 rs766322163 13.20 D T D D D D M T D 0.846 T T T 0.407 0.533 0.485 0.372 T D T D D D 4.012 27.100 0.999 D D 0.840 9.614 0.827 10.988 1.000 0.554 0.610 0.618 0.564 . 5.710 5.710 7.899 1.026 0.599 1.000 1.000 0.998 665 Sodium/calcium_exchanger_domain,_C-terminal_extension . . ID=COSV63526605;OCCURENCE=1(skin) SLC8A3 301 1 472 36 0.0708661417322835 TRUE TRUE ENSG00000186297.12 . BCM GRCh38.p13 chr15 26883550 26883550 + A A C Missense_Mutation SNP ENST00000335625.10 exon6 c.A490C p.T164P exonic ENSG00000186297.12 . nonsynonymous SNV ENSG00000186297.12:ENST00000335625.10:exon6:c.A490C:p.T164P 15q12 C3N-00198 . . . . . . . . . 18.20 D D D D D D M T D 0.806 D D D 0.945 0.766 0.970 2.253 T D D D D D 4.340 29.900 0.997 D D 0.880 10.540 0.836 11.279 1.000 0.696 0.578 0.723 0.563 . 5.400 5.400 9.123 1.312 0.756 1.000 1.000 0.991 862 Neurotransmitter-gated_ion-channel_ligand-binding_domain . . . GABRA5 176 3 314 20 0.0598802395209581 TRUE NA ENSG00000175265.17 . BCM GRCh38.p13 chr15 34386872 34386872 + C C T Missense_Mutation SNP ENST00000432566.6 exon2 c.G122A p.R41Q exonic ENSG00000175265.17 . nonsynonymous SNV ENSG00000175265.17:ENST00000432566.6:exon2:c.G122A:p.R41Q 15q14 C3N-00198 0.0003 0 0 0 0 0.0005 0 0.0002 rs764458162 0.13 . T . . . N N . . 0.123 T T T 0.001 . 0.043 . . T T T T T -0.648 0.057 0.826 N N -1.060 0.344 -1.323 0.194 0.000 0.693 0.659 0.659 0.564 . 0.379 -0.758 -6.444 -3.382 -4.719 0.000 0.000 0.000 678 . . . ID=COSV62171157;OCCURENCE=2(liver) GOLGA8A 1189 1 2509 153 0.0574755822689707 NA TRUE ENSG00000103742.12 . BCM GRCh38.p13 chr15 65393507 65393507 + C C T Missense_Mutation SNP ENST00000352385.3 exon10 c.G1739A p.R580Q exonic ENSG00000103742.12 . nonsynonymous SNV ENSG00000103742.12:ENST00000352385.3:exon10:c.G1739A:p.R580Q 15q22.31 C3N-00198 0.0002 0.0014 0 0 0 6.067e-05 0 0 rs150437562 1.20 T T B B N N L T N 0.129 T T D 0.074 . 0.506 0.359 T T T T T T 1.641 16.640 0.993 N N -0.547 1.085 -0.487 1.223 1.000 0.696 0.610 0.723 0.530 . 4.630 3.710 1.165 -1.333 -3.729 0.003 0.435 0.049 458 Fibronectin_type_III . . . IGDCC4 57 0 141 10 0.0662251655629139 TRUE NA ENSG00000140678.17 . BCM GRCh38.p13 chr16 31371091 31371091 + C C T Missense_Mutation SNP ENST00000268296.9 exon15 c.C1718T p.A573V exonic ENSG00000140678.17 . nonsynonymous SNV ENSG00000140678.17:ENST00000268296.9:exon15:c.C1718T:p.A573V 16p11.2 C3N-00198 7.477e-05 0 0.0003 0 0 3.024e-05 0.0011 0.0001 rs148255116 0.19 T T P B . N L T N 0.300 T T T 0.081 . 0.653 0.230 T T T T T T 0.719 8.632 0.988 N N -0.442 1.293 -0.544 1.132 0.110 0.706 0.710 0.578 0.568 . 5.240 3.080 -0.188 -0.236 -0.175 0.000 0.000 0.001 319 . . . . ITGAX 163 1 372 25 0.0629722921914358 TRUE NA ENSG00000182557.8 . BCM GRCh38.p13 chr17 4486427 4486427 + C C T Missense_Mutation SNP ENST00000355530.7 exon11 c.C1294T p.R432W exonic ENSG00000182557.8 . nonsynonymous SNV ENSG00000182557.8:ENST00000355530.7:exon11:c.C1294T:p.R432W 17p13.2 C3N-00198 8.465e-06 0 0 0.0001 0 0 0 0 rs766014246 8.20 D D D P N N M T D 0.571 T T D 0.160 . 0.380 0.567 T T T T D D 3.333 24.200 0.999 N N 0.172 3.182 0.050 2.540 1.000 0.581 0.627 0.604 0.613 . 4.780 3.790 0.700 -0.279 -0.235 0.019 0.033 0.069 828 Major_facilitator_superfamily_domain . . ID=COSV61069046;OCCURENCE=1(liver) SPNS3 80 0 121 11 0.0833333333333333 TRUE TRUE ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674221 7674221 + G G A Missense_Mutation SNP ENST00000269305.8 exon7 c.C742T p.R248W exonic ENSG00000141510.17 . nonsynonymous SNV ENSG00000141510.17:ENST00000269305.8:exon7:c.C742T:p.R248W 17p13.1 C3N-00198 8.24e-06 0 0 0 0 1.498e-05 0 0 rs121912651 19.20 D D D D D A M D D 0.991 D D D 0.927 0.986 0.984 0.393 T D D D D D 4.158 28.300 0.999 D D 0.506 5.084 0.371 4.161 0.000 0.722 0.702 0.725 0.735 . 4.620 2.560 0.835 1.157 0.672 1.000 0.987 0.874 433 p53,_DNA-binding_domain . . ID=COSV52662035;OCCURENCE=1(salivary_gland),114(breast),1(penis),5(liver),2(genital_tract),65(oesophagus),1(cervix),238(large_intestine),62(central_nervous_system),12(biliary_tract),49(ovary),4(vulva),2(pleura),2(bone),9(NS),63(haematopoietic_and_lymphoid_tissue),52(stomach),14(kidney),11(soft_tissue),27(urinary_tract),40(pancreas),52(skin),14(prostate),47(lung),8(thyroid),51(upper_aerodigestive_tract),1(thymus),30(endometrium) TP53 316 0 514 47 0.0837789661319073 TRUE TRUE ENSG00000006025.12 . BCM GRCh38.p13 chr17 47809201 47809201 + T T C Missense_Mutation SNP ENST00000007414.8 exon20 c.A2045G p.N682S exonic ENSG00000006025.12 . nonsynonymous SNV ENSG00000006025.12:ENST00000007414.8:exon20:c.A2045G:p.N682S 17q21.32 C3N-00198 8.257e-06 0 0 0 0 0 0 6.057e-05 rs556290712 1.20 T T B B N N N T N 0.164 T T T 0.020 0.382 0.196 0.327 T T T T T D 1.597 16.350 0.882 N N -1.018 0.385 -0.888 0.637 0.999 0.707 0.725 0.645 0.714 . 5.000 2.660 0.556 0.205 -0.133 0.031 0.839 0.366 346 . . . . OSBPL7 193 0 336 24 0.0666666666666667 TRUE NA ENSG00000141524.15 . BCM GRCh38.p13 chr17 78124759 78124759 + G G A Missense_Mutation SNP ENST00000590602.5 exon8 c.C656T p.A219V exonic ENSG00000141524.15 . nonsynonymous SNV ENSG00000141524.15:ENST00000590602.5:exon8:c.C656T:p.A219V 17q25.3 C3N-00198 5.196e-05 0.0003 0 0 0 4.934e-05 0 0 rs763931900 0.20 T T B B N N L T N 0.159 T T T 0.025 0.408 0.213 0.159 T T T T T T -0.588 0.077 0.914 N N -1.415 0.111 -1.569 0.084 1.000 0.718 0.522 0.571 0.636 . 3.130 -6.260 -1.750 -0.309 -0.105 0.000 0.485 0.194 846 . . . ID=COSV100130541;OCCURENCE=1(stomach) TMC6 295 0 750 54 0.0671641791044776 TRUE NA ENSG00000105137.13 . BCM GRCh38.p13 chr19 15111403 15111403 + T T C Missense_Mutation SNP ENST00000342784.7 exon5 c.T1381C p.S461P exonic ENSG00000105137.13 . nonsynonymous SNV ENSG00000105137.13:ENST00000342784.7:exon5:c.T1381C:p.S461P 19p13.12 C3N-00198 . . . . . . . . . 11.20 D T D D N D M T D 0.796 T T D 0.189 0.482 0.333 1.363 T T T T D D 4.020 27.100 0.998 D D 0.559 5.528 0.516 5.311 0.649 0.672 0.588 0.702 0.711 . 5.300 5.300 3.780 1.138 0.665 0.888 0.960 0.913 970 Rho_GTPase-activating_protein_domain . . . SYDE1 119 0 216 14 0.0608695652173913 TRUE TRUE ENSG00000130283.9 . BCM GRCh38.p13 chr19 18868794 18868794 + C C T Missense_Mutation SNP ENST00000247005.8 exon8 c.G922A p.G308R exonic ENSG00000130283.9;ENSG00000223802.7 . nonsynonymous SNV ENSG00000130283.9:ENST00000247005.8:exon8:c.G922A:p.G308R,ENSG00000223802.7:ENST00000623927.1:exon8:c.G922A:p.G308R 19p13.11 C3N-00198 . . . . . . . . . 2.17 T T . . U N L D N 0.211 T T D 0.240 0.609 0.254 2.181 . T T T T T 1.912 18.580 0.857 N N -0.478 1.220 -0.644 0.982 0.996 0.696 0.514 0.723 0.664 . 2.360 2.360 0.251 0.865 0.451 0.000 0.002 0.006 923 Transforming_growth_factor-beta,_C-terminal . . . GDF1 194 0 541 45 0.0767918088737201 TRUE NA ENSG00000126246.10 . BCM GRCh38.p13 chr19 35741027 35741027 + G G A Missense_Mutation SNP ENST00000246532.6 exon2 c.C154T p.P52S exonic ENSG00000126246.10 . nonsynonymous SNV ENSG00000126246.10:ENST00000246532.6:exon2:c.C154T:p.P52S 19q13.12 C3N-00198 . . . . . . . . . 6.20 D D B B N N L D D 0.129 T D D 0.102 0.234 0.330 0.224 T T T T T T 0.905 10.490 0.835 N N -1.059 0.344 -1.146 0.330 1.000 0.442 0.522 0.179 0.562 . 4.930 -2.910 0.392 0.225 -0.118 0.009 0.011 0.186 698 . . . . IGFLR1 96 0 298 25 0.0773993808049536 TRUE TRUE ENSG00000172296.13 . BCM GRCh38.p13 chr20 13074393 13074393 + A A G Missense_Mutation SNP ENST00000399002.7 exon4 c.A503G p.Y168C exonic ENSG00000172296.13 . nonsynonymous SNV ENSG00000172296.13:ENST00000399002.7:exon4:c.A503G:p.Y168C 20p12.1 C3N-00198 . . . . . . . . . 19.20 D D D D D D H D D 0.907 D D D 0.893 0.818 0.931 0.895 T D D D D D 4.300 29.600 0.998 D D 1.062 16.019 1.000 18.867 1.000 0.554 0.574 0.602 0.564 . 6.170 6.170 9.325 1.311 0.756 1.000 0.999 0.991 907 Aminotransferase,_class_I/classII . . . SPTLC3 115 0 192 17 0.0813397129186603 TRUE TRUE ENSG00000124103.10 . BCM GRCh38.p13 chr20 56525040 56525040 + G G C Missense_Mutation SNP ENST00000371328.5 exon1 c.G232C p.D78H exonic ENSG00000124103.10 . nonsynonymous SNV ENSG00000124103.10:ENST00000371328.5:exon1:c.G232C:p.D78H 20q13.31 C3N-00198 . . . . . . . . . 3.19 T D B B N N M T D 0.118 T T T 0.030 0.255 0.072 0.887 . T T T T T 1.731 17.240 0.964 N N -0.312 1.585 -0.331 1.501 0.023 0.554 0.588 0.602 0.621 . 5.510 3.510 1.915 1.101 0.590 0.910 0.709 0.039 988 . . . ID=COSV99711691;OCCURENCE=1(upper_aerodigestive_tract) FAM209A 227 0 417 31 0.0691964285714286 NA TRUE ENSG00000172346.15 . BCM GRCh38.p13 chr22 41573711 41573711 + G G A Missense_Mutation SNP ENST00000306149.12 exon3 c.G233A p.R78H exonic ENSG00000172346.15 . nonsynonymous SNV ENSG00000172346.15:ENST00000306149.12:exon3:c.G233A:p.R78H 22q13.2 C3N-00198 8.255e-06 9.628e-05 0 0 0 0 0 0 rs773404459 16.19 D D D D D D M . D 0.812 T T D 0.599 0.380 0.644 1.547 D T D D D D 4.453 32 1.000 D D 0.902 11.103 0.877 12.811 1.000 0.537 0.514 0.490 0.613 . 5.410 5.410 10.003 1.176 0.676 1.000 0.994 0.985 97 Cold-shock_protein,_DNA-binding;Cold_shock_domain . . . CSDC2 206 0 275 25 0.0833333333333333 TRUE NA ENSG00000094631.21 . BCM GRCh38.p13 chrX 48805443 48805443 + C C T Missense_Mutation SNP ENST00000334136.11 exon5 c.C317T p.P106L exonic ENSG00000094631.21 . nonsynonymous SNV ENSG00000094631.21:ENST00000334136.11:exon5:c.C317T:p.P106L Xp11.23 C3N-00198 7.473e-05 0 0 0.0009 0 0 0 0 rs781865210 12.19 D D D D N D M T D 0.349 T T D 0.550 0.825 0.884 1.638 T D T T D D 2.718 22.900 0.993 D . . . . . 0.999 . . . . . 3.500 2.630 3.277 1.008 0.529 0.996 0.744 0.852 6 Histone_deacetylase_domain . . . HDAC6 74 0 128 23 0.152317880794702 TRUE NA ENSG00000102290.22 . BCM GRCh38.p13 chrX 92387756 92387756 + C C A Missense_Mutation SNP ENST00000373094.5 exon5 c.C3166A p.H1056N exonic ENSG00000102290.22 . nonsynonymous SNV ENSG00000102290.22:ENST00000373094.5:exon5:c.C3166A:p.H1056N Xq21.31 C3N-00198 . . . . . . . . . 5.19 T D P P U D L T N 0.455 T T T 0.124 0.070 0.836 2.414 T T T T D D 2.041 19.560 0.986 D . . . . . 0.135 . . . . . 3.560 2.660 5.286 -0.062 0.449 1.000 0.998 0.994 987 . . . ID=COSV53510400;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) PCDH11X 137 1 262 30 0.102739726027397 NA TRUE ENSG00000005022.6 . BCM GRCh38.p13 chrX 119470084 119470084 + G G A Missense_Mutation SNP ENST00000317881.9 exon2 c.G535A p.V179M exonic ENSG00000005022.6 . nonsynonymous SNV ENSG00000005022.6:ENST00000317881.9:exon2:c.G535A:p.V179M Xq24 C3N-00198 . . . . . . . . . 14.19 D D D P D D L T D 0.746 D D D 0.697 0.544 0.929 1.773 T D D T D D 3.578 25.000 0.998 D . . . . . 1.000 . . . . . 4.340 3.470 9.567 1.154 0.672 1.000 0.987 0.997 728 . . . . SLC25A5 95 0 140 30 0.176470588235294 NA TRUE ENSG00000166348.18 . BCM GRCh38.p13 chr10 73545616 73545616 + G G A Silent SNP ENST00000339859.8 exon4 c.C297T p.L99L exonic ENSG00000166348.18 . synonymous SNV ENSG00000166348.18:ENST00000339859.8:exon4:c.C297T:p.L99L 10q22.2 C3N-00198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . USP54 190 0 299 19 0.059748427672956 TRUE TRUE ENSG00000167792.13 . BCM GRCh38.p13 chr11 67610999 67610999 + G G A Silent SNP ENST00000322776.11 exon6 c.G705A p.V235V exonic ENSG00000167792.13 . synonymous SNV ENSG00000167792.13:ENST00000322776.11:exon6:c.G705A:p.V235V 11q13.2 C3N-00198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDUFV1 208 0 348 21 0.0569105691056911 TRUE TRUE ENSG00000166170.9 . BCM GRCh38.p13 chr14 103560862 103560862 + G G C Silent SNP ENST00000445922.2 exon2 c.C303G p.A101A exonic ENSG00000166170.9 . synonymous SNV ENSG00000166170.9:ENST00000445922.2:exon2:c.C303G:p.A101A 14q32.33 C3N-00198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . BAG5 211 0 341 29 0.0783783783783784 TRUE TRUE ENSG00000138622.4 . BCM GRCh38.p13 chr15 73323261 73323261 + C C T Silent SNP ENST00000261917.4 exon8 c.G2832A p.A944A exonic ENSG00000138622.4 . synonymous SNV ENSG00000138622.4:ENST00000261917.4:exon8:c.G2832A:p.A944A 15q24.1 C3N-00198 7.99e-05 0.0004 0 0 0 0 0 0.0004 rs747946171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV99984244;OCCURENCE=1(stomach) HCN4 100 0 90 15 0.142857142857143 TRUE NA ENSG00000183196.10 . BCM GRCh38.p13 chr16 75479124 75479124 + G G A Silent SNP ENST00000332272.9 exon3 c.C705T p.A235A exonic ENSG00000183196.10 . synonymous SNV ENSG00000183196.10:ENST00000332272.9:exon3:c.C705T:p.A235A 16q23.1 C3N-00198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100178368;OCCURENCE=1(lung) CHST6 361 0 751 72 0.0874848116646416 TRUE NA ENSG00000075275.17 . BCM GRCh38.p13 chr22 46534948 46534948 + G G A Silent SNP ENST00000262738.8 exon1 c.C2223T p.G741G exonic ENSG00000075275.17 . synonymous SNV ENSG00000075275.17:ENST00000262738.8:exon1:c.C2223T:p.G741G 22q13.31 C3N-00198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CELSR1 161 1 286 31 0.0977917981072555 TRUE NA ENSG00000100599.16 . BCM GRCh38.p13 chr14 92515323 92515323 + G G A Intron SNP NA NA NA NA intronic ENSG00000100599.16 . . . 14q32.12 C3N-00198 . . . . . . . . rs866977326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . RIN3 58 0 110 13 0.105691056910569 TRUE NA ENSG00000120949.15 . BCM GRCh38.p13 chr1 12104465 12104465 + G G A Missense_Mutation SNP ENST00000263932.7 exon4 c.G355A p.V119I exonic ENSG00000120949.15 . nonsynonymous SNV ENSG00000120949.15:ENST00000263932.7:exon4:c.G355A:p.V119I 1p36.22 C3N-01380 8.25e-06 0 0 0 0 1.5e-05 0 0 rs764000451 0.20 T T B B N N N T N 0.135 T T T 0.010 0.354 0.093 0.166 T T T T T T -0.902 0.014 0.822 N N -1.820 0.021 -1.951 0.017 1.000 0.707 0.702 0.725 0.542 . 4.920 -9.840 -1.830 -0.069 -0.118 0.000 0.025 0.039 819 Tumour_necrosis_factor_receptor_8,_N-terminal;TNFR/NGFR_cysteine-rich_region . . ID=COSV99821474;OCCURENCE=1(large_intestine) TNFRSF8 239 0 695 79 0.102067183462532 TRUE NA ENSG00000033122.21 . BCM GRCh38.p13 chr1 70038218 70038218 + G G A Missense_Mutation SNP ENST00000651989.2 exon21 c.G2394A p.M798I exonic ENSG00000033122.21 . nonsynonymous SNV ENSG00000033122.21:ENST00000651989.2:exon21:c.G2394A:p.M798I 1p31.1 C3N-01380 8.241e-06 0 0 0 0 0 0 6.057e-05 rs568596228 5.20 D D B B N D L T N 0.217 T T T 0.060 0.172 0.261 0.249 T T T T T D 1.947 18.850 0.952 D N -0.404 1.374 -0.243 1.686 1.000 0.487 0.574 0.489 0.613 . 5.580 4.670 1.312 1.176 0.618 1.000 0.892 0.889 884 . . . . LRRC7 158 0 418 46 0.0991379310344828 TRUE NA ENSG00000115423.19 . BCM GRCh38.p13 chr2 84659149 84659149 + G G A Missense_Mutation SNP ENST00000389394.8 exon37 c.G6064A p.D2022N exonic ENSG00000115423.19 . nonsynonymous SNV ENSG00000115423.19:ENST00000389394.8:exon37:c.G6064A:p.D2022N 2p11.2 C3N-01380 . . . . . . . . rs267599478 6.18 T . B B . D L T N 0.150 T T D 0.097 0.279 0.263 0.080 T T T T D D 2.969 23.300 0.996 D D 0.105 2.907 0.267 3.530 0.996 0.554 0.588 0.574 0.564 . 5.090 5.090 7.743 1.163 0.663 1.000 1.000 0.999 594 . . . . DNAH6 42 0 87 6 0.0645161290322581 TRUE NA ENSG00000185038.14 . BCM GRCh38.p13 chr2 233811917 233811917 + C C T Missense_Mutation SNP ENST00000389758.3 exon24 c.C2609T p.S870F exonic ENSG00000185038.14 . nonsynonymous SNV ENSG00000185038.14:ENST00000389758.3:exon24:c.C2609T:p.S870F 2q37.1 C3N-01380 . . . . . . . . . 8.16 D D . . D D . T D 0.697 T T D 0.142 0.492 0.260 0.000 . T T T D T 3.529 24.800 0.998 D N 0.371 4.171 0.383 4.238 0.939 0.497 0.590 0.547 0.542 . 5.330 5.330 3.545 0.956 0.587 0.989 0.992 0.316 851 . . . . MROH2A 174 0 455 32 0.0657084188911704 TRUE NA ENSG00000185038.14 . BCM GRCh38.p13 chr2 233818081 233818081 + G G A Missense_Mutation SNP ENST00000389758.3 exon28 c.G3041A p.R1014H exonic ENSG00000185038.14 . nonsynonymous SNV ENSG00000185038.14:ENST00000389758.3:exon28:c.G3041A:p.R1014H 2q37.1 C3N-01380 . . . . . . . . rs930450394 12.16 D D . . D D . T D 0.589 D D D 0.524 0.659 0.661 0.000 . T D D D T 3.680 25.300 0.999 D N 0.278 3.670 0.249 3.435 1.000 0.497 0.590 0.573 0.542 . 5.470 5.470 4.679 1.148 0.658 0.961 0.031 0.017 867 . . . . MROH2A 215 0 446 32 0.0669456066945607 TRUE NA ENSG00000121440.15 . BCM GRCh38.p13 chr3 73383678 73383678 + G G A Missense_Mutation SNP ENST00000263666.9 exon10 c.C2888T p.A963V exonic ENSG00000121440.15 . nonsynonymous SNV ENSG00000121440.15:ENST00000263666.9:exon10:c.C2888T:p.A963V 3p13 C3N-01380 . . . . . . . . . 14.20 D D D D D D M T D 0.811 T T D 0.259 0.183 0.485 0.364 T D T T D D 3.878 26.200 0.999 D D 0.335 3.966 0.344 3.981 1.000 0.706 0.574 0.710 0.613 . 5.210 4.320 7.825 1.176 0.676 1.000 0.816 0.941 969 . . . . PDZRN3 291 0 676 69 0.0926174496644295 TRUE NA ENSG00000174808.12 . BCM GRCh38.p13 chr4 74748141 74748141 + C C T Missense_Mutation SNP ENST00000395743.8 exon5 c.G437A p.R146Q exonic ENSG00000174808.12 . nonsynonymous SNV ENSG00000174808.12:ENST00000395743.8:exon5:c.G437A:p.R146Q 4q13.3 C3N-01380 0.0001 9.897e-05 0 0 0 0.0002 0 0 rs144483811 0.20 T T B B N N L T N 0.249 T T T 0.015 . 0.377 0.038 T T T T T T 1.606 16.410 0.840 N N -0.834 0.607 -0.805 0.750 0.000 0.487 0.574 0.574 0.542 . 4.840 2.160 -0.063 -0.247 -0.182 0.887 0.002 0.469 910 . . . ID=COSV67547264;OCCURENCE=1(large_intestine),1(skin) BTC 79 0 126 11 0.0802919708029197 TRUE TRUE ENSG00000150630.4 . BCM GRCh38.p13 chr4 176727779 176727779 + G G A Missense_Mutation SNP ENST00000618562.2 exon3 c.C551T p.T184M exonic ENSG00000150630.4 . nonsynonymous SNV ENSG00000150630.4:ENST00000618562.2:exon3:c.C551T:p.T184M 4q34.3 C3N-01380 3.352e-05 0 0.0002 0 0 0 0 0.0001 rs554908874 14.17 . D D D D D M . . 0.612 D D T 0.269 0.634 0.624 . T D T D D D 4.197 28.600 0.999 D D 0.894 10.908 0.866 12.390 1.000 0.707 0.574 0.659 0.714 . 5.720 5.720 7.606 1.176 0.676 1.000 1.000 0.958 837 PDGF/VEGF_domain . . ID=COSV54594769;OCCURENCE=2(large_intestine),1(stomach),1(pancreas) VEGFC 76 0 210 20 0.0869565217391304 TRUE NA 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-01380 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 129 1 313 47 0.130555555555556 TRUE NA ENSG00000137216.19 . BCM GRCh38.p13 chr6 44140257 44140257 + A A G Missense_Mutation SNP ENST00000323267.11 exon9 c.A608G p.N203S exonic ENSG00000137216.19 . nonsynonymous SNV ENSG00000137216.19:ENST00000323267.11:exon9:c.A608G:p.N203S 6p21.1 C3N-01380 . . . . . . . . . 6.20 T T P P N D M T N 0.369 T T T 0.074 0.318 0.196 1.276 T T T T D D 3.425 24.500 0.983 D D 0.242 3.495 0.309 3.771 1.000 0.707 0.577 0.725 0.714 . 4.450 4.450 6.219 1.312 0.756 1.000 1.000 0.992 845 Calcium_permeable_stress-gated_cation_channel_1,_N-terminal_transmembrane_domain . . . TMEM63B 118 0 272 22 0.0748299319727891 TRUE TRUE ENSG00000111877.17 . BCM GRCh38.p13 chr6 118815896 118815896 + C C T Missense_Mutation SNP ENST00000316316.10 exon13 c.G2360A p.S787N exonic ENSG00000111877.17 . nonsynonymous SNV ENSG00000111877.17:ENST00000316316.10:exon13:c.G2360A:p.S787N 6q22.31 C3N-01380 . . . . . . . . . 0.20 T T B B N N L T N 0.040 T T T 0.091 0.143 0.303 0.113 T T T T T T -0.032 1.150 0.886 N N -0.872 0.556 -0.840 0.703 0.160 0.563 0.654 0.609 0.636 . 5.960 2.890 -1.003 -0.219 0.599 0.000 0.003 0.333 457 . . . . MCM9 57 0 158 11 0.0650887573964497 TRUE TRUE ENSG00000198822.10 . BCM GRCh38.p13 chr7 86787039 86787039 + C C G Missense_Mutation SNP ENST00000361669.6 exon3 c.C1247G p.T416S exonic ENSG00000198822.10 . nonsynonymous SNV ENSG00000198822.10:ENST00000361669.6:exon3:c.C1247G:p.T416S 7q21.12 C3N-01380 . . . . . . . . . 5.19 T T B B D D N D N 0.435 T T T 0.320 0.405 0.383 0.363 T T T T D T 1.703 17.050 0.963 D . -0.132 2.075 0.118 2.811 1.000 0.615 0.624 0.659 0.564 . 5.780 5.780 4.782 0.952 0.599 1.000 0.998 0.994 402 Receptor,_ligand_binding_region . . . GRM3 262 0 445 43 0.0881147540983607 TRUE TRUE ENSG00000151892.14 . BCM GRCh38.p13 chr10 116125320 116125320 + C C T Missense_Mutation SNP ENST00000355422.10 exon6 c.G671A p.R224Q exonic ENSG00000151892.14 . nonsynonymous SNV ENSG00000151892.14:ENST00000355422.10:exon6:c.G671A:p.R224Q 10q25.3 C3N-01380 . . . . . . . . rs1005537154 19.20 D D D D D D M T D 0.813 D D D 0.526 . 0.819 1.334 D D D D D D 4.252 29.100 1.000 D D 0.963 12.793 0.934 15.285 1.000 0.765 0.574 0.732 0.564 . 5.990 5.990 7.905 1.026 0.599 1.000 0.997 0.998 894 GDNF/GAS1 . . ID=COSV62602441;OCCURENCE=1(oesophagus) GFRA1 209 0 597 60 0.091324200913242 TRUE TRUE ENSG00000117983.17 . BCM GRCh38.p13 chr11 1255226 1255226 + - NA CATGCCCACCA Frame_Shift_Ins INS ENST00000529681.5 exon36 c.15850_15851insCATGCCCACCA p.Q5288Hfs*10 exonic ENSG00000117983.17 . frameshift insertion ENSG00000117983.17:ENST00000529681.5:exon36:c.15850_15851insCATGCCCACCA:p.Q5288Hfs*10 11p15.5 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . MUC5B NA NA NA NA NA NA NA ENSG00000180974.4 . BCM GRCh38.p13 chr11 5885083 5885083 + G G A Missense_Mutation SNP ENST00000641726.1 exon2 c.G791A p.R264H exonic ENSG00000180974.4 . nonsynonymous SNV ENSG00000180974.4:ENST00000641726.1:exon2:c.G791A:p.R264H 11p15.4 C3N-01380 6.603e-05 0.0003 0 0 0 5.999e-05 0 6.058e-05 rs140220439 3.20 T D B B N N M T D 0.150 T T T 0.065 . 0.392 0.017 T T T T T T 0.825 9.648 0.946 N N -0.725 0.772 -0.821 0.729 0.000 0.487 0.574 0.574 0.564 . 5.260 2.240 0.061 -0.149 -0.150 0.000 0.052 0.013 701 GPCR,_rhodopsin-like,_7TM . . ID=COSV57624652;OCCURENCE=1(large_intestine),1(bone) OR52E4 130 0 304 16 0.05 TRUE NA ENSG00000141510.17 . BCM GRCh38.p13 chr17 7674904 7674905 + TC TC - Frame_Shift_Del DEL ENST00000269305.8 exon6 c.626_627del p.R209Kfs*6 exonic ENSG00000141510.17 . frameshift deletion ENSG00000141510.17:ENST00000269305.8:exon6:c.626_627del:p.R209Kfs*6 17p13.1 C3N-01380 . . . . . . . . rs1057517840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TP53 450 0 849 165 0.162721893491124 TRUE TRUE ENSG00000004777.18 . BCM GRCh38.p13 chr19 35781036 35781036 + G G A Missense_Mutation SNP ENST00000314737.9 exon11 c.G946A p.D316N exonic ENSG00000004777.18 . nonsynonymous SNV ENSG00000004777.18:ENST00000314737.9:exon11:c.G946A:p.D316N 19q13.12 C3N-01380 . . . . . . . . . 14.20 D D D D D D M T D 0.815 T T D 0.343 0.431 0.556 1.068 D T T T D D 3.726 25.500 0.999 D D 0.852 9.880 0.799 10.097 1.000 0.706 0.710 0.723 0.684 . 5.300 5.300 7.978 1.089 0.676 1.000 0.573 0.101 757 Rho_GTPase-activating_protein_domain . . . ARHGAP33 273 0 609 41 0.0630769230769231 TRUE NA ENSG00000177191.2 . BCM GRCh38.p13 chr19 41426270 41426270 + G G A Missense_Mutation SNP ENST00000321702.2 exon3 c.C509T p.T170M exonic ENSG00000177191.2 . nonsynonymous SNV ENSG00000177191.2:ENST00000321702.2:exon3:c.C509T:p.T170M 19q13.2 C3N-01380 2.485e-05 9.679e-05 0 0 0 1.511e-05 0 6.057e-05 rs549435727 13.19 D D D D D D H T D 0.664 D T D 0.628 0.764 0.658 0.636 T T T D D T 3.930 26.500 0.999 D . 0.695 7.055 0.584 6.027 1.000 0.490 0.551 0.537 0.662 . 4.140 4.140 4.043 1.157 0.654 1.000 0.989 0.992 856 . . . . B3GNT8 196 0 632 74 0.104815864022663 TRUE NA ENSG00000121410.12 . BCM GRCh38.p13 chr19 58353102 58353102 + G G A Missense_Mutation SNP ENST00000263100.8 exon3 c.C166T p.P56S exonic ENSG00000121410.12 . nonsynonymous SNV ENSG00000121410.12:ENST00000263100.8:exon3:c.C166T:p.P56S 19q13.43 C3N-01380 . . . . . . . . . 0.20 T T B B N N N T N 0.084 T T T 0.018 0.471 0.118 0.325 T T T T T T -0.420 0.174 0.411 N N -1.454 0.096 -1.543 0.092 1.000 0.515 0.551 0.604 0.542 . 3.520 -4.790 -1.081 -0.323 -0.897 0.000 0.000 0.000 958 Immunoglobulin_subtype_2;Immunoglobulin_subtype . . . A1BG 274 0 638 63 0.0898716119828816 TRUE TRUE ENSG00000088882.8 . BCM GRCh38.p13 chr20 2795673 2795673 + C C T Missense_Mutation SNP ENST00000380605.3 exon11 c.G1646A p.R549Q exonic ENSG00000088882.8 . nonsynonymous SNV ENSG00000088882.8:ENST00000380605.3:exon11:c.G1646A:p.R549Q 20p13 C3N-01380 8.293e-06 0 0 0 0 0 0 6.058e-05 rs764257542 7.20 T T D D D D L T N 0.712 T T T 0.208 0.372 0.615 1.078 T T T T D T 3.419 24.500 0.999 D D 0.684 6.906 0.677 7.340 1.000 0.635 0.610 0.644 0.580 . 5.150 5.150 7.883 1.026 0.599 1.000 0.907 0.856 744 Peptidase_M14,_carboxypeptidase_A;AEBP1/CPX,_carboxypeptidase_domain . . . CPXM1 181 0 583 63 0.0975232198142415 TRUE NA ENSG00000080845.17 . BCM GRCh38.p13 chr20 36526828 36526828 + C C A Missense_Mutation SNP ENST00000339266.9 exon13 c.C2776A p.P926T exonic ENSG00000080845.17 . nonsynonymous SNV ENSG00000080845.17:ENST00000339266.9:exon13:c.C2776A:p.P926T 20q11.23 C3N-01380 . . . . . . . . . 9.20 D T D D N D M T D 0.281 T T T 0.177 0.529 0.552 1.576 T T T T D D 2.936 23.300 0.996 D N 0.588 5.802 0.609 6.341 0.947 0.707 0.725 0.725 0.714 . 5.530 5.530 3.407 1.026 0.599 1.000 1.000 0.998 748 . . . . DLGAP4 142 0 364 33 0.0831234256926952 TRUE TRUE ENSG00000224960.5 . BCM GRCh38.p13 chrX 27462075 27462075 + C C T Missense_Mutation SNP ENST00000412172.4 exon1 c.G1222A p.V408M exonic ENSG00000224960.5 . nonsynonymous SNV ENSG00000224960.5:ENST00000412172.4:exon1:c.G1222A:p.V408M Xp21.3 C3N-01380 0.0002 0 0 0 0 0 0 0.0004 rs781066252 0.5 . . B B . . . . . . . . . . . . . . T . . . T -1.023 0.007 0.663 N . . . . . 0.000 . . . . 0.046 4.540 -1.750 -1.251 -2.801 -1.721 0.000 0.000 0.000 654 . . . . PPP4R3C 67 0 129 16 0.110344827586207 TRUE NA ENSG00000143379.12 . BCM GRCh38.p13 chr1 150950818 150950818 + G G A Silent SNP ENST00000271640.9 exon13 c.G1941A p.E647E exonic ENSG00000143379.12 . synonymous SNV ENSG00000143379.12:ENST00000271640.9:exon13:c.G1941A:p.E647E 1q21.3 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SETDB1 204 1 459 66 0.125714285714286 TRUE TRUE ENSG00000010932.17 . BCM GRCh38.p13 chr1 171285328 171285328 + G G A Silent SNP ENST00000617670.6 exon9 c.G1383A p.L461L exonic ENSG00000010932.17 . synonymous SNV ENSG00000010932.17:ENST00000617670.6:exon9:c.G1383A:p.L461L 1q24.3 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FMO1 150 0 370 40 0.0975609756097561 TRUE TRUE ENSG00000163219.12 . BCM GRCh38.p13 chr2 68822648 68822648 + C C T Silent SNP ENST00000409202.8 exon10 c.C1509T p.Y503Y exonic ENSG00000163219.12 . synonymous SNV ENSG00000163219.12:ENST00000409202.8:exon10:c.C1509T:p.Y503Y 2p13.3 C3N-01380 1.66e-05 0 0 0 0 3.024e-05 0 0 rs781421747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV54905969;OCCURENCE=1(large_intestine) ARHGAP25 154 0 375 23 0.0577889447236181 TRUE TRUE ENSG00000168702.18 . BCM GRCh38.p13 chr2 140234834 140234834 + C C T Silent SNP ENST00000389484.8 exon90 c.G13611A p.A4537A exonic ENSG00000168702.18 . synonymous SNV ENSG00000168702.18:ENST00000389484.8:exon90:c.G13611A:p.A4537A 2q22.1 C3N-01380 0.0001 0 0.0004 0 0 0.0002 0 0 rs149169898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV67205366;OCCURENCE=3(large_intestine),1(upper_aerodigestive_tract) LRP1B 136 0 412 29 0.0657596371882086 TRUE TRUE ENSG00000128645.15 . BCM GRCh38.p13 chr2 176188966 176188966 + C C A Silent SNP ENST00000331462.6 exon1 c.C165A p.P55P exonic ENSG00000128645.15 . synonymous SNV ENSG00000128645.15:ENST00000331462.6:exon1:c.C165A:p.P55P 2q31.1 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HOXD1 113 0 363 32 0.0810126582278481 TRUE TRUE ENSG00000115414.20 . BCM GRCh38.p13 chr2 215406380 215406380 + G G A Silent SNP ENST00000354785.10 exon19 c.C2844T p.G948G exonic ENSG00000115414.20 . synonymous SNV ENSG00000115414.20:ENST00000354785.10:exon19:c.C2844T:p.G948G 2q35 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . FN1 465 0 1122 60 0.050761421319797 TRUE TRUE ENSG00000183873.17 . BCM GRCh38.p13 chr3 38606137 38606137 + G G A Silent SNP ENST00000333535.9 exon10 c.C1152T p.S384S exonic ENSG00000183873.17 . synonymous SNV ENSG00000183873.17:ENST00000333535.9:exon10:c.C1152T:p.S384S 3p22.2 C3N-01380 5.827e-05 0.0002 0 0 0 7.537e-05 0 0 rs372970828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV61116227;OCCURENCE=2(large_intestine) SCN5A 99 0 249 31 0.110714285714286 TRUE TRUE ENSG00000204965.9 . BCM GRCh38.p13 chr5 140823221 140823221 + C C T Silent SNP ENST00000529859.2 exon1 c.C1446T p.D482D exonic ENSG00000204965.9 . synonymous SNV ENSG00000204965.9:ENST00000529859.2:exon1:c.C1446T:p.D482D 5q31.3 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV65349916;OCCURENCE=1(stomach) PCDHA5 679 0 1433 165 0.103254067584481 NA TRUE ENSG00000257335.8 . BCM GRCh38.p13 chr7 142034368 142034368 + C C T Silent SNP ENST00000549489.6 exon15 c.C1776T p.V592V exonic ENSG00000257335.8 . synonymous SNV ENSG00000257335.8:ENST00000549489.6:exon15:c.C1776T:p.V592V 7q34 C3N-01380 0.0036 0.0003 0.0040 0 0.0012 0.0054 0.0027 0.0027 rs191698936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV72074530;OCCURENCE=1(large_intestine) MGAM 142 0 377 43 0.102380952380952 TRUE TRUE ENSG00000107731.12 . BCM GRCh38.p13 chr10 71291715 71291715 + C C T Silent SNP ENST00000335350.10 exon10 c.C1578T p.S526S exonic ENSG00000107731.12 . synonymous SNV ENSG00000107731.12:ENST00000335350.10:exon10:c.C1578T:p.S526S 10q22.1 C3N-01380 3.34e-05 9.843e-05 0 0.0001 0 1.52e-05 0 6.071e-05 rs775350591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV58979039;OCCURENCE=1(ovary) UNC5B 195 0 553 38 0.0642978003384095 TRUE NA ENSG00000156395.13 . BCM GRCh38.p13 chr10 105223234 105223234 + C C T Silent SNP ENST00000369701.8 exon20 c.C2853T p.F951F exonic ENSG00000156395.13 . synonymous SNV ENSG00000156395.13:ENST00000369701.8:exon20:c.C2853T:p.F951F 10q25.1 C3N-01380 0.0005 0.0052 0.0002 0.0002 0 4.508e-05 0 0.0001 rs114303567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV63793255;OCCURENCE=1(large_intestine),1(central_nervous_system) SORCS3 101 0 174 10 0.0543478260869565 TRUE TRUE ENSG00000181009.5 . BCM GRCh38.p13 chr11 5778056 5778056 + T T A Silent SNP ENST00000641181.1 exon3 c.A579T p.V193V exonic ENSG00000181009.5 . synonymous SNV ENSG00000181009.5:ENST00000641181.1:exon3:c.A579T:p.V193V 11p15.4 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR52N5 64 0 164 31 0.158974358974359 TRUE TRUE ENSG00000174669.12 . BCM GRCh38.p13 chr11 66369076 66369076 + G G A Silent SNP ENST00000357440.7 exon4 c.C399T p.S133S exonic ENSG00000174669.12 . synonymous SNV ENSG00000174669.12:ENST00000357440.7:exon4:c.C399T:p.S133S 11q13.2 C3N-01380 3.797e-05 0 0 0 0 6.822e-05 0 0 rs145126639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC29A2 241 0 646 61 0.0862800565770863 TRUE NA ENSG00000196387.9 . BCM GRCh38.p13 chr12 133105916 133105916 + A A T Silent SNP ENST00000355557.6 exon5 c.A639T p.G213G exonic ENSG00000196387.9 . synonymous SNV ENSG00000196387.9:ENST00000355557.6:exon5:c.A639T:p.G213G 12q24.33 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZNF140 247 0 487 27 0.0525291828793774 TRUE TRUE ENSG00000182636.8 . BCM GRCh38.p13 chr15 23686714 23686714 + G G A Silent SNP ENST00000649030.2 exon1 c.C504T p.V168V exonic ENSG00000182636.8 . synonymous SNV ENSG00000182636.8:ENST00000649030.2:exon1:c.C504T:p.V168V 15q11.2 C3N-01380 8.442e-06 0 0 0 0 1.543e-05 0 0 rs748887378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . NDN 200 0 473 27 0.054 TRUE NA ENSG00000247315.4 . BCM GRCh38.p13 chr20 297820 297820 + C C A Silent SNP ENST00000500893.4 exon1 c.C234A p.P78P exonic ENSG00000247315.4 . synonymous SNV ENSG00000247315.4:ENST00000500893.4:exon1:c.C234A:p.P78P 20p13 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ZCCHC3 14 0 55 3 0.0517241379310345 TRUE NA ENSG00000166049.11 . BCM GRCh38.p13 chrX 151648660 151648660 + C C T Silent SNP ENST00000370357.5 exon9 c.C675T p.Y225Y exonic ENSG00000166049.11 . synonymous SNV ENSG00000166049.11:ENST00000370357.5:exon9:c.C675T:p.Y225Y Xq28 C3N-01380 1.141e-05 0 0 0 0 2.086e-05 0 0 rs773316022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ID=COSV100949570;OCCURENCE=1(large_intestine) PASD1 65 0 181 21 0.103960396039604 TRUE NA ENSG00000153291.16 . BCM GRCh38.p13 chr6 46658521 46658521 + G G A Intron SNP NA NA NA NA intronic ENSG00000153291.16 . . . 6p12.3 C3N-01380 0.0042 0 0 0 . 0.0004 0 0.0058 rs546142480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . SLC25A27 104 0 180 10 0.0526315789473684 TRUE NA ENSG00000112282.18 . BCM GRCh38.p13 chr6 131615323 131615323 + C C T Intron SNP NA NA NA NA intronic ENSG00000112282.18 . . . 6q23.2 C3N-01380 . . . . . . . . . 2.4 . . . . . D . . . . . . . . . . . . . T T . . 2.468 22.300 0.995 D . 0.512 5.134 0.618 6.449 1.000 0.156 0.156 0.138 0.118 0.987 5.950 5.950 7.568 1.026 0.599 1.000 1.000 1.000 833 . . . . MED23 265 0 664 58 0.0803324099722992 TRUE TRUE ENSG00000184363.10 . BCM GRCh38.p13 chr11 404459 404459 + A A C Intron SNP NA NA NA NA intronic ENSG00000184363.10 . . . 11p15.5 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PKP3 110 0 264 28 0.0958904109589041 TRUE TRUE ENSG00000170688.4 . BCM GRCh38.p13 chr11 7849159 7849159 + C C T RNA SNP NA NA NA NA ncRNA_exonic ENSG00000170688.4 . . . 11p15.4 C3N-01380 . . . . . . . . rs183371732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OR5E1P 151 0 341 27 0.0733695652173913 TRUE NA ENSG00000166575.17 . BCM GRCh38.p13 chr11 87327511 87327511 + T T C 3'UTR SNP NA NA NA NA UTR3 ENSG00000166575.17 ENST00000305494.6:c.*6178T>C . . 11q14.2 C3N-01380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . TMEM135 78 0 228 28 0.109375 TRUE NA ENSG00000250770.3 . BCM GRCh38.p13 chr12 3298178 3298178 + G G A 3'Flank SNP NA NA NA NA downstream ENSG00000250770.3 dist=481 . . 12p13.32 C3N-01380 7.092e-05 0 0 0 0 0.0002 0 0 rs762362364 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . AC005865.1 278 1 628 50 0.0737463126843658 TRUE NA