Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 156271470 156271470 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:156271470C>T c.234G>A c.(232-234)aaG>aaA p.K78K BRCA 3 156260995 156260995 + Silent SNP T T C TCGA-A8-A08L-01A-11W-A019-09 TCGA-A8-A08L-10A-01W-A021-09 g.chr3:156260995T>C c.555A>G c.(553-555)aaA>aaG p.K185K CESC 3 156271474 156271474 + Missense_Mutation SNP T T C TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 g.chr3:156271474T>C c.230A>G c.(229-231)tAc>tGc p.Y77C COAD 3 156271470 156271470 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:156271470C>A c.234G>T c.(232-234)aaG>aaT p.K78N COADREAD 3 156271470 156271470 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:156271470C>A c.234G>T c.(232-234)aaG>aaT p.K78N GBMLGG 3 156266708 156266708 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:156266708C>T c.345G>A c.(343-345)aaG>aaA p.K115K HNSC 3 156272786 156272786 + Silent SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr3:156272786G>C c.93C>G c.(91-93)ctC>ctG p.L31L KIPAN 3 156266708 156266708 + Missense_Mutation SNP C C A TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr3:156266708C>A c.345G>T c.(343-345)aaG>aaT p.K115N KIRP 3 156266708 156266708 + Missense_Mutation SNP C C A TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr3:156266708C>A c.345G>T c.(343-345)aaG>aaT p.K115N LGG 3 156266708 156266708 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:156266708C>T c.345G>A c.(343-345)aaG>aaA p.K115K LIHC 3 156266720 156266720 + Missense_Mutation SNP C C A TCGA-FV-A495-01A-11D-A25V-10 TCGA-FV-A495-10A-01D-A25V-10 g.chr3:156266720C>A c.333G>T c.(331-333)aaG>aaT p.K111N LIHC 3 156271447 156271447 + Missense_Mutation SNP T T G TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr3:156271447T>G c.257A>C c.(256-258)cAc>cCc p.H86P LUAD 3 156266737 156266737 + Missense_Mutation SNP C C T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr3:156266737C>T c.316G>A c.(316-318)Gaa>Aaa p.E106K LUAD 3 156271452 156271452 + Silent SNP G G C TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr3:156271452G>C c.252C>G c.(250-252)ctC>ctG p.L84L LUAD 3 156272859 156272859 + Missense_Mutation SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr3:156272859G>A c.20C>T c.(19-21)tCc>tTc p.S7F PRAD 3 156266713 156266713 + Missense_Mutation SNP G G A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 g.chr3:156266713G>A c.340C>T c.(340-342)Cgg>Tgg p.R114W

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 156262158 156262158 single base substitution G A exon_variant BLCA-CN 3 156262158 156262158 single base substitution G A synonymous_variant L144L 430C>T BLCA-CN 3 156262158 156262158 single base substitution G A synonymous_variant L157L 469C>T BLCA-CN 3 156262158 156262158 single base substitution G A synonymous_variant L92L 274C>T BLCA-US 3 156271470 156271470 single base substitution C T exon_variant BLCA-US 3 156271470 156271470 single base substitution C T synonymous_variant K26K 78G>A BLCA-US 3 156271470 156271470 single base substitution C T synonymous_variant K78K 234G>A BLCA-US 3 156271470 156271470 single base substitution C T upstream_gene_variant BRCA-EU 3 156255910 156255910 single base substitution C G downstream_gene_variant BRCA-EU 3 156257334 156257334 single base substitution G C downstream_gene_variant BRCA-EU 3 156258030 156258030 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 156258030 156258030 single base substitution G T downstream_gene_variant BRCA-EU 3 156258471 156258471 single base substitution A C 3_prime_UTR_variant BRCA-EU 3 156258471 156258471 single base substitution A C downstream_gene_variant BRCA-EU 3 156258747 156258747 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 156258747 156258747 single base substitution G A downstream_gene_variant BRCA-EU 3 156260984 156260984 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 156260984 156260984 single base substitution G A downstream_gene_variant BRCA-EU 3 156260984 156260984 single base substitution G A exon_variant BRCA-EU 3 156261188 156261188 single base substitution C T downstream_gene_variant BRCA-EU 3 156261188 156261188 single base substitution C T intron_variant BRCA-EU 3 156266081 156266081 single base substitution C T intron_variant BRCA-EU 3 156267033 156267033 single base substitution G A intron_variant BRCA-EU 3 156267033 156267033 single base substitution G A upstream_gene_variant BRCA-EU 3 156267684 156267684 single base substitution G C intron_variant BRCA-EU 3 156267684 156267684 single base substitution G C upstream_gene_variant BRCA-EU 3 156268208 156268208 single base substitution C T intron_variant BRCA-EU 3 156268208 156268208 single base substitution C T upstream_gene_variant BRCA-EU 3 156271321 156271321 single base substitution A C intron_variant BRCA-EU 3 156271321 156271321 single base substitution A C upstream_gene_variant BRCA-EU 3 156271511 156271511 single base substitution T C exon_variant BRCA-EU 3 156271511 156271511 single base substitution T C missense_variant M13V 37A>G BRCA-EU 3 156271511 156271511 single base substitution T C missense_variant M65V 193A>G BRCA-EU 3 156271511 156271511 single base substitution T C upstream_gene_variant BRCA-EU 3 156271514 156271514 single base substitution C G exon_variant BRCA-EU 3 156271514 156271514 single base substitution C G missense_variant V12L 34G>C BRCA-EU 3 156271514 156271514 single base substitution C G missense_variant V64L 190G>C BRCA-EU 3 156271514 156271514 single base substitution C G upstream_gene_variant BRCA-EU 3 156271705 156271705 single base substitution G C intron_variant BRCA-EU 3 156271705 156271705 single base substitution G C upstream_gene_variant BRCA-EU 3 156271721 156271721 single base substitution G C intron_variant BRCA-EU 3 156271721 156271721 single base substitution G C upstream_gene_variant BRCA-EU 3 156272584 156272584 single base substitution C A 5_prime_UTR_variant BRCA-EU 3 156272584 156272584 single base substitution C A intron_variant BRCA-EU 3 156272584 156272584 single base substitution C A upstream_gene_variant BRCA-EU 3 156274186 156274186 single base substitution G A upstream_gene_variant BRCA-EU 3 156275089 156275089 single base substitution A G upstream_gene_variant BRCA-EU 3 156275268 156275268 single base substitution C T upstream_gene_variant BRCA-EU 3 156276880 156276880 single base substitution G T upstream_gene_variant BRCA-EU 3 156277286 156277286 single base substitution C T upstream_gene_variant BRCA-EU 3 156277307 156277307 single base substitution G A upstream_gene_variant BRCA-EU 3 156277791 156277791 single base substitution C T upstream_gene_variant BRCA-EU 3 156277911 156277911 single base substitution A G upstream_gene_variant BRCA-FR 3 156258747 156258747 single base substitution G A 3_prime_UTR_variant BRCA-FR 3 156258747 156258747 single base substitution G A downstream_gene_variant BRCA-FR 3 156271705 156271705 single base substitution G C intron_variant BRCA-FR 3 156271705 156271705 single base substitution G C upstream_gene_variant BRCA-FR 3 156271721 156271721 single base substitution G C intron_variant BRCA-FR 3 156271721 156271721 single base substitution G C upstream_gene_variant BRCA-UK 3 156253978 156253978 single base substitution G C downstream_gene_variant BRCA-UK 3 156255192 156255192 single base substitution C G downstream_gene_variant BRCA-US 3 156260929 156260929 single base substitution C T 3_prime_UTR_variant BRCA-US 3 156260929 156260929 single base substitution C T downstream_gene_variant BRCA-US 3 156260929 156260929 single base substitution C T exon_variant BRCA-US 3 156260995 156260995 single base substitution T C 3_prime_UTR_variant BRCA-US 3 156260995 156260995 single base substitution T C downstream_gene_variant BRCA-US 3 156260995 156260995 single base substitution T C exon_variant BRCA-US 3 156260995 156260995 single base substitution T C synonymous_variant K133K 399A>G BRCA-US 3 156260995 156260995 single base substitution T C synonymous_variant K185K 555A>G BRCA-US 3 156260995 156260995 single base substitution T C synonymous_variant K198K 594A>G CESC-US 3 156254594 156254594 single base substitution G A downstream_gene_variant CESC-US 3 156271474 156271474 single base substitution T C exon_variant CESC-US 3 156271474 156271474 single base substitution T C missense_variant Y25C 74A>G CESC-US 3 156271474 156271474 single base substitution T C missense_variant Y77C 230A>G CESC-US 3 156271474 156271474 single base substitution T C upstream_gene_variant CLLE-ES 3 156255109 156255109 single base substitution A G downstream_gene_variant COAD-US 3 156254533 156254533 single base substitution A G downstream_gene_variant COAD-US 3 156266774 156266774 single base substitution C T exon_variant COAD-US 3 156266774 156266774 single base substitution C T synonymous_variant E41E 123G>A COAD-US 3 156266774 156266774 single base substitution C T synonymous_variant E93E 279G>A COAD-US 3 156271470 156271470 single base substitution C A exon_variant COAD-US 3 156271470 156271470 single base substitution C A missense_variant K26N 78G>T COAD-US 3 156271470 156271470 single base substitution C A missense_variant K78N 234G>T COAD-US 3 156271470 156271470 single base substitution C A upstream_gene_variant COCA-CN 3 156254315 156254315 single base substitution C T downstream_gene_variant COCA-CN 3 156254431 156254431 single base substitution C T downstream_gene_variant COCA-CN 3 156266774 156266774 single base substitution C T exon_variant COCA-CN 3 156266774 156266774 single base substitution C T synonymous_variant E41E 123G>A COCA-CN 3 156266774 156266774 single base substitution C T synonymous_variant E93E 279G>A COCA-CN 3 156271627 156271627 single base substitution C T intron_variant COCA-CN 3 156271627 156271627 single base substitution C T upstream_gene_variant ESAD-UK 3 156258501 156258501 single base substitution T A 3_prime_UTR_variant ESAD-UK 3 156258501 156258501 single base substitution T A downstream_gene_variant ESAD-UK 3 156260040 156260040 single base substitution T G 3_prime_UTR_variant ESAD-UK 3 156260040 156260040 single base substitution T G downstream_gene_variant ESAD-UK 3 156261019 156261019 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 156261019 156261019 single base substitution G A downstream_gene_variant ESAD-UK 3 156261019 156261019 single base substitution G A exon_variant ESAD-UK 3 156261019 156261019 single base substitution G A synonymous_variant I125I 375C>T ESAD-UK 3 156261019 156261019 single base substitution G A synonymous_variant I177I 531C>T ESAD-UK 3 156261019 156261019 single base substitution G A synonymous_variant I190I 570C>T ESAD-UK 3 156262780 156262790 deletion of <=200bp CCTGTAAAATC - intron_variant ESAD-UK 3 156266083 156266083 single base substitution G A intron_variant ESAD-UK 3 156266479 156266479 single base substitution G A intron_variant ESAD-UK 3 156267128 156267128 single base substitution C T intron_variant ESAD-UK 3 156267128 156267128 single base substitution C T upstream_gene_variant ESAD-UK 3 156268723 156268723 single base substitution G T intron_variant ESAD-UK 3 156268723 156268723 single base substitution G T upstream_gene_variant ESAD-UK 3 156269616 156269616 single base substitution G A intron_variant ESAD-UK 3 156269616 156269616 single base substitution G A upstream_gene_variant ESAD-UK 3 156272585 156272585 single base substitution C A 5_prime_UTR_variant ESAD-UK 3 156272585 156272585 single base substitution C A intron_variant ESAD-UK 3 156272585 156272585 single base substitution C A upstream_gene_variant ESAD-UK 3 156276467 156276467 single base substitution G C upstream_gene_variant ESAD-UK 3 156277520 156277520 single base substitution G A upstream_gene_variant ESCA-CN 3 156255627 156255627 single base substitution A T downstream_gene_variant GBM-US 3 156271443 156271443 insertion of <=200bp - TTGTGCTTG splice_donor_variant GBM-US 3 156271443 156271443 insertion of <=200bp - TTGTGCTTG upstream_gene_variant KIRP-US 3 156266708 156266708 single base substitution C A exon_variant KIRP-US 3 156266708 156266708 single base substitution C A missense_variant K115N 345G>T KIRP-US 3 156266708 156266708 single base substitution C A missense_variant K63N 189G>T LICA-FR 3 156271486 156271486 single base substitution A G exon_variant LICA-FR 3 156271486 156271486 single base substitution A G missense_variant V21A 62T>C LICA-FR 3 156271486 156271486 single base substitution A G missense_variant V73A 218T>C LICA-FR 3 156271486 156271486 single base substitution A G upstream_gene_variant LICA-FR 3 156272846 156272846 single base substitution A T exon_variant LICA-FR 3 156272846 156272846 single base substitution A T synonymous_variant S11S 33T>A LICA-FR 3 156272846 156272846 single base substitution A T upstream_gene_variant LIHC-US 3 156266720 156266720 single base substitution C A exon_variant LIHC-US 3 156266720 156266720 single base substitution C A missense_variant K111N 333G>T LIHC-US 3 156266720 156266720 single base substitution C A missense_variant K59N 177G>T LIHC-US 3 156271447 156271447 single base substitution T G exon_variant LIHC-US 3 156271447 156271447 single base substitution T G missense_variant H34P 101A>C LIHC-US 3 156271447 156271447 single base substitution T G missense_variant H86P 257A>C LIHC-US 3 156271447 156271447 single base substitution T G upstream_gene_variant LINC-JP 3 156258500 156258500 single base substitution T C 3_prime_UTR_variant LINC-JP 3 156258500 156258500 single base substitution T C downstream_gene_variant LINC-JP 3 156268930 156268930 deletion of <=200bp A - intron_variant LINC-JP 3 156268930 156268930 deletion of <=200bp A - upstream_gene_variant LINC-JP 3 156275671 156275671 single base substitution T A upstream_gene_variant LIRI-JP 3 156253964 156253964 single base substitution T C downstream_gene_variant LIRI-JP 3 156254467 156254467 single base substitution A G downstream_gene_variant LIRI-JP 3 156255395 156255395 single base substitution G A downstream_gene_variant LIRI-JP 3 156255862 156255862 single base substitution A G downstream_gene_variant LIRI-JP 3 156256115 156256115 single base substitution G C downstream_gene_variant LIRI-JP 3 156259596 156259596 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 156259596 156259596 single base substitution A T downstream_gene_variant LIRI-JP 3 156259867 156259867 single base substitution T A 3_prime_UTR_variant LIRI-JP 3 156259867 156259867 single base substitution T A downstream_gene_variant LIRI-JP 3 156262526 156262526 single base substitution A T intron_variant LIRI-JP 3 156262645 156262645 single base substitution T C intron_variant LIRI-JP 3 156263116 156263116 single base substitution T G intron_variant LIRI-JP 3 156264697 156264697 single base substitution C T intron_variant LIRI-JP 3 156265786 156265786 deletion of <=200bp T - intron_variant LIRI-JP 3 156266698 156266698 single base substitution C T exon_variant LIRI-JP 3 156266698 156266698 single base substitution C T missense_variant E119K 355G>A LIRI-JP 3 156266698 156266698 single base substitution C T missense_variant E67K 199G>A LIRI-JP 3 156267854 156267854 single base substitution A T intron_variant LIRI-JP 3 156267854 156267854 single base substitution A T upstream_gene_variant LIRI-JP 3 156267936 156267936 single base substitution T C intron_variant LIRI-JP 3 156267936 156267936 single base substitution T C upstream_gene_variant LIRI-JP 3 156268247 156268247 single base substitution T C intron_variant LIRI-JP 3 156268247 156268247 single base substitution T C upstream_gene_variant LIRI-JP 3 156269818 156269818 single base substitution G A intron_variant LIRI-JP 3 156269818 156269818 single base substitution G A upstream_gene_variant LIRI-JP 3 156270001 156270001 single base substitution G T intron_variant LIRI-JP 3 156270001 156270001 single base substitution G T upstream_gene_variant LIRI-JP 3 156272567 156272567 single base substitution C T 5_prime_UTR_variant LIRI-JP 3 156272567 156272567 single base substitution C T intron_variant LIRI-JP 3 156272567 156272567 single base substitution C T upstream_gene_variant LIRI-JP 3 156273161 156273161 single base substitution T A upstream_gene_variant LIRI-JP 3 156274807 156274807 single base substitution A T upstream_gene_variant LIRI-JP 3 156276224 156276224 single base substitution G A upstream_gene_variant LUSC-KR 3 156255754 156255754 single base substitution A G downstream_gene_variant LUSC-KR 3 156257160 156257160 single base substitution G C downstream_gene_variant LUSC-KR 3 156257987 156257987 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 156257987 156257987 single base substitution G A downstream_gene_variant LUSC-KR 3 156259096 156259096 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 156259096 156259096 single base substitution G A downstream_gene_variant LUSC-KR 3 156264710 156264710 single base substitution G A intron_variant LUSC-KR 3 156267699 156267699 single base substitution G A intron_variant LUSC-KR 3 156267699 156267699 single base substitution G A upstream_gene_variant LUSC-KR 3 156272915 156272915 single base substitution G T 5_prime_UTR_variant LUSC-KR 3 156272915 156272915 single base substitution G T upstream_gene_variant LUSC-KR 3 156272986 156272986 single base substitution C T upstream_gene_variant LUSC-KR 3 156273057 156273057 single base substitution G T upstream_gene_variant LUSC-KR 3 156273242 156273242 single base substitution T G upstream_gene_variant LUSC-KR 3 156274159 156274159 single base substitution C T upstream_gene_variant LUSC-US 3 156254473 156254473 single base substitution G T downstream_gene_variant MALY-DE 3 156260467 156260467 single base substitution T C 3_prime_UTR_variant MALY-DE 3 156260467 156260467 single base substitution T C downstream_gene_variant MALY-DE 3 156262741 156262741 insertion of <=200bp - A intron_variant MALY-DE 3 156272347 156272350 deletion of <=200bp CTAA - intron_variant MALY-DE 3 156272347 156272350 deletion of <=200bp CTAA - upstream_gene_variant MALY-DE 3 156275332 156275332 single base substitution A G upstream_gene_variant MELA-AU 3 156256418 156256418 single base substitution A C downstream_gene_variant MELA-AU 3 156256559 156256559 single base substitution G A downstream_gene_variant MELA-AU 3 156257241 156257241 single base substitution T A downstream_gene_variant MELA-AU 3 156257293 156257293 deletion of <=200bp T - downstream_gene_variant MELA-AU 3 156257922 156257922 single base substitution G A downstream_gene_variant MELA-AU 3 156258253 156258253 single base substitution G A 3_prime_UTR_variant MELA-AU 3 156258253 156258253 single base substitution G A downstream_gene_variant MELA-AU 3 156258288 156258288 single base substitution G C 3_prime_UTR_variant MELA-AU 3 156258288 156258288 single base substitution G C downstream_gene_variant MELA-AU 3 156258575 156258575 single base substitution G A 3_prime_UTR_variant MELA-AU 3 156258575 156258575 single base substitution G A downstream_gene_variant MELA-AU 3 156258841 156258841 single base substitution G A 3_prime_UTR_variant MELA-AU 3 156258841 156258841 single base substitution G A downstream_gene_variant MELA-AU 3 156259445 156259445 single base substitution A G 3_prime_UTR_variant MELA-AU 3 156259445 156259445 single base substitution A G downstream_gene_variant MELA-AU 3 156259983 156259983 single base substitution C T 3_prime_UTR_variant MELA-AU 3 156259983 156259983 single base substitution C T downstream_gene_variant MELA-AU 3 156261495 156261495 single base substitution G A downstream_gene_variant MELA-AU 3 156261495 156261495 single base substitution G A intron_variant MELA-AU 3 156263100 156263100 single base substitution G T intron_variant MELA-AU 3 156263409 156263409 single base substitution T C intron_variant MELA-AU 3 156263513 156263513 single base substitution G A intron_variant MELA-AU 3 156263568 156263568 single base substitution G A intron_variant MELA-AU 3 156263613 156263613 single base substitution G A intron_variant MELA-AU 3 156263641 156263641 single base substitution G A intron_variant MELA-AU 3 156263985 156263985 single base substitution G A intron_variant MELA-AU 3 156264246 156264246 single base substitution G A intron_variant MELA-AU 3 156264459 156264459 single base substitution G A intron_variant MELA-AU 3 156264524 156264524 single base substitution G A intron_variant MELA-AU 3 156265023 156265023 single base substitution G A intron_variant MELA-AU 3 156266442 156266442 single base substitution G A intron_variant MELA-AU 3 156266457 156266457 single base substitution A C intron_variant MELA-AU 3 156267695 156267695 single base substitution T C intron_variant MELA-AU 3 156267695 156267695 single base substitution T C upstream_gene_variant MELA-AU 3 156267806 156267807 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 156267806 156267807 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 156267825 156267825 single base substitution G A intron_variant MELA-AU 3 156267825 156267825 single base substitution G A upstream_gene_variant MELA-AU 3 156267906 156267906 single base substitution G A intron_variant MELA-AU 3 156267906 156267906 single base substitution G A upstream_gene_variant MELA-AU 3 156267994 156267994 single base substitution G C intron_variant MELA-AU 3 156267994 156267994 single base substitution G C upstream_gene_variant MELA-AU 3 156268473 156268473 single base substitution A T intron_variant MELA-AU 3 156268473 156268473 single base substitution A T upstream_gene_variant MELA-AU 3 156269213 156269213 single base substitution G A exon_variant MELA-AU 3 156269213 156269213 single base substitution G A intron_variant MELA-AU 3 156269213 156269213 single base substitution G A upstream_gene_variant MELA-AU 3 156269317 156269317 single base substitution G A intron_variant MELA-AU 3 156269317 156269317 single base substitution G A upstream_gene_variant MELA-AU 3 156270477 156270477 single base substitution G A intron_variant MELA-AU 3 156270477 156270477 single base substitution G A upstream_gene_variant MELA-AU 3 156271127 156271127 single base substitution G A intron_variant MELA-AU 3 156271127 156271127 single base substitution G A upstream_gene_variant MELA-AU 3 156273092 156273092 single base substitution G A upstream_gene_variant MELA-AU 3 156273097 156273097 single base substitution C T upstream_gene_variant MELA-AU 3 156274245 156274245 single base substitution G A upstream_gene_variant MELA-AU 3 156274704 156274704 single base substitution G A upstream_gene_variant MELA-AU 3 156274818 156274818 single base substitution C T upstream_gene_variant MELA-AU 3 156274849 156274849 single base substitution A C upstream_gene_variant MELA-AU 3 156274987 156274987 single base substitution G A upstream_gene_variant MELA-AU 3 156275018 156275018 single base substitution A G upstream_gene_variant MELA-AU 3 156275242 156275242 single base substitution G A upstream_gene_variant MELA-AU 3 156275697 156275697 single base substitution A G upstream_gene_variant MELA-AU 3 156275706 156275706 single base substitution C T upstream_gene_variant MELA-AU 3 156276091 156276091 single base substitution C T upstream_gene_variant MELA-AU 3 156276235 156276235 single base substitution C T upstream_gene_variant MELA-AU 3 156276872 156276872 single base substitution G A upstream_gene_variant MELA-AU 3 156277227 156277227 single base substitution A T upstream_gene_variant MELA-AU 3 156277744 156277744 single base substitution G A upstream_gene_variant MELA-AU 3 156277749 156277749 single base substitution C T upstream_gene_variant MELA-AU 3 156277882 156277882 single base substitution C T upstream_gene_variant ORCA-IN 3 156254475 156254475 single base substitution T C downstream_gene_variant ORCA-IN 3 156262178 156262178 single base substitution G C exon_variant ORCA-IN 3 156262178 156262178 single base substitution G C missense_variant S137C 410C>G ORCA-IN 3 156262178 156262178 single base substitution G C missense_variant S150C 449C>G ORCA-IN 3 156262178 156262178 single base substitution G C missense_variant S85C 254C>G ORCA-IN 3 156265452 156265452 single base substitution T C intron_variant OV-AU 3 156255098 156255098 single base substitution A T downstream_gene_variant OV-AU 3 156259081 156259081 single base substitution C A 3_prime_UTR_variant OV-AU 3 156259081 156259081 single base substitution C A downstream_gene_variant OV-AU 3 156264612 156264612 single base substitution T C intron_variant OV-AU 3 156265326 156265326 single base substitution G A intron_variant OV-AU 3 156265970 156265970 single base substitution C T intron_variant OV-AU 3 156274573 156274573 single base substitution C T upstream_gene_variant OV-AU 3 156276507 156276507 single base substitution A C upstream_gene_variant PACA-AU 3 156254387 156254387 insertion of <=200bp - A downstream_gene_variant PACA-AU 3 156255677 156255677 single base substitution G A downstream_gene_variant PACA-AU 3 156257465 156257465 single base substitution G A downstream_gene_variant PACA-AU 3 156259452 156259452 single base substitution A C 3_prime_UTR_variant PACA-AU 3 156259452 156259452 single base substitution A C downstream_gene_variant PACA-AU 3 156259655 156259655 single base substitution C T 3_prime_UTR_variant PACA-AU 3 156259655 156259655 single base substitution C T downstream_gene_variant PACA-AU 3 156270652 156270652 single base substitution G A intron_variant PACA-AU 3 156270652 156270652 single base substitution G A upstream_gene_variant PACA-AU 3 156272136 156272136 single base substitution G C intron_variant PACA-AU 3 156272136 156272136 single base substitution G C upstream_gene_variant PACA-AU 3 156274511 156274511 single base substitution C G upstream_gene_variant PACA-AU 3 156275119 156275119 single base substitution A G upstream_gene_variant PACA-AU 3 156275247 156275247 single base substitution C T upstream_gene_variant PACA-CA 3 156253104 156253104 single base substitution A G downstream_gene_variant PACA-CA 3 156253391 156253391 single base substitution C T downstream_gene_variant PACA-CA 3 156254959 156254959 single base substitution G T downstream_gene_variant PACA-CA 3 156255163 156255163 single base substitution A C downstream_gene_variant PACA-CA 3 156256307 156256307 single base substitution G C downstream_gene_variant PACA-CA 3 156261833 156261833 deletion of <=200bp T - exon_variant PACA-CA 3 156261833 156261833 deletion of <=200bp T - intron_variant PACA-CA 3 156261868 156261868 single base substitution G A exon_variant PACA-CA 3 156261868 156261868 single base substitution G A intron_variant PACA-CA 3 156263118 156263118 single base substitution A G intron_variant PACA-CA 3 156267731 156267736 deletion of <=200bp ACTCCG - intron_variant PACA-CA 3 156267731 156267736 deletion of <=200bp ACTCCG - upstream_gene_variant PACA-CA 3 156268469 156268469 single base substitution A T intron_variant PACA-CA 3 156268469 156268469 single base substitution A T upstream_gene_variant PACA-CA 3 156271194 156271194 single base substitution A G intron_variant PACA-CA 3 156271194 156271194 single base substitution A G upstream_gene_variant PACA-CA 3 156271586 156271586 insertion of <=200bp - G intron_variant PACA-CA 3 156271586 156271586 insertion of <=200bp - G upstream_gene_variant PACA-CA 3 156273694 156273694 single base substitution G C upstream_gene_variant PACA-CA 3 156274605 156274605 single base substitution G A upstream_gene_variant PAEN-AU 3 156260608 156260608 single base substitution T C 3_prime_UTR_variant PAEN-AU 3 156260608 156260608 single base substitution T C downstream_gene_variant PAEN-AU 3 156264220 156264220 single base substitution A C intron_variant PAEN-IT 3 156254061 156254061 single base substitution C A downstream_gene_variant PBCA-DE 3 156256559 156256559 single base substitution G T downstream_gene_variant PBCA-DE 3 156258840 156258840 single base substitution G A 3_prime_UTR_variant PBCA-DE 3 156258840 156258840 single base substitution G A downstream_gene_variant PRAD-UK 3 156261833 156261833 insertion of <=200bp - T exon_variant PRAD-UK 3 156261833 156261833 insertion of <=200bp - T intron_variant PRAD-UK 3 156265454 156265454 single base substitution A G intron_variant PRAD-UK 3 156270487 156270487 single base substitution T C intron_variant PRAD-UK 3 156270487 156270487 single base substitution T C upstream_gene_variant PRAD-UK 3 156273043 156273043 single base substitution G T upstream_gene_variant PRAD-US 3 156266713 156266713 single base substitution G A exon_variant PRAD-US 3 156266713 156266713 single base substitution G A missense_variant R114W 340C>T PRAD-US 3 156266713 156266713 single base substitution G A missense_variant R62W 184C>T RECA-EU 3 156255162 156255162 single base substitution A C downstream_gene_variant RECA-EU 3 156257594 156257594 single base substitution G A downstream_gene_variant RECA-EU 3 156271715 156271715 single base substitution A C intron_variant RECA-EU 3 156271715 156271715 single base substitution A C upstream_gene_variant SKCA-BR 3 156255755 156255755 single base substitution C T downstream_gene_variant SKCA-BR 3 156255800 156255800 single base substitution A C downstream_gene_variant SKCA-BR 3 156255834 156255834 single base substitution G C downstream_gene_variant SKCA-BR 3 156258417 156258417 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 156258417 156258417 single base substitution G A downstream_gene_variant SKCA-BR 3 156261089 156261089 single base substitution A G downstream_gene_variant SKCA-BR 3 156261089 156261089 single base substitution A G intron_variant SKCA-BR 3 156265870 156265870 single base substitution G A intron_variant SKCA-BR 3 156273098 156273098 single base substitution C T upstream_gene_variant SKCA-BR 3 156275985 156275985 single base substitution C T upstream_gene_variant SKCA-BR 3 156276837 156276837 single base substitution T C upstream_gene_variant STAD-US 3 156261014 156261014 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 3 156261014 156261014 deletion of <=200bp A - downstream_gene_variant STAD-US 3 156261014 156261014 deletion of <=200bp A - exon_variant STAD-US 3 156261014 156261014 deletion of <=200bp A - frameshift_variant L127 STAD-US 3 156261014 156261014 deletion of <=200bp A - frameshift_variant L179 STAD-US 3 156261014 156261014 deletion of <=200bp A - frameshift_variant L192 STAD-US 3 156272757 156272757 single base substitution G A exon_variant STAD-US 3 156272757 156272757 single base substitution G A missense_variant A41V 122C>T STAD-US 3 156272757 156272757 single base substitution G A upstream_gene_variant THCA-SA 3 156255087 156255087 single base substitution T G downstream_gene_variant THCA-SA 3 156255689 156255689 single base substitution G A downstream_gene_variant THCA-SA 3 156256461 156256461 single base substitution C T downstream_gene_variant THCA-SA 3 156258817 156258817 single base substitution T C 3_prime_UTR_variant THCA-SA 3 156258817 156258817 single base substitution T C downstream_gene_variant THCA-SA 3 156259279 156259279 single base substitution C T 3_prime_UTR_variant THCA-SA 3 156259279 156259279 single base substitution C T downstream_gene_variant THCA-SA 3 156259348 156259348 single base substitution G A 3_prime_UTR_variant THCA-SA 3 156259348 156259348 single base substitution G A downstream_gene_variant THCA-SA 3 156259485 156259485 single base substitution G A 3_prime_UTR_variant THCA-SA 3 156259485 156259485 single base substitution G A downstream_gene_variant THCA-SA 3 156260245 156260245 single base substitution G A 3_prime_UTR_variant THCA-SA 3 156260245 156260245 single base substitution G A downstream_gene_variant UCEC-US 3 156261032 156261032 single base substitution G T 3_prime_UTR_variant UCEC-US 3 156261032 156261032 single base substitution G T downstream_gene_variant UCEC-US 3 156261032 156261032 single base substitution G T exon_variant UCEC-US 3 156261032 156261032 single base substitution G T stop_gained S121* 362C>A UCEC-US 3 156261032 156261032 single base substitution G T stop_gained S173* 518C>A UCEC-US 3 156261032 156261032 single base substitution G T stop_gained S186* 557C>A UCEC-US 3 156266745 156266745 single base substitution T G exon_variant UCEC-US 3 156266745 156266745 single base substitution T G missense_variant K103T 308A>C UCEC-US 3 156266745 156266745 single base substitution T G missense_variant K51T 152A>C UCEC-US 3 156266748 156266748 single base substitution C T exon_variant UCEC-US 3 156266748 156266748 single base substitution C T missense_variant R102Q 305G>A UCEC-US 3 156266748 156266748 single base substitution C T missense_variant R50Q 149G>A UCEC-US 3 156272850 156272850 single base substitution T C exon_variant UCEC-US 3 156272850 156272850 single base substitution T C missense_variant Q10R 29A>G UCEC-US 3 156272850 156272850 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G16_S1 COSM3759846 c.279G>A p.E93E Substitution - coding silent 3:156548985-156548985 - 9227_T COSM5042930 c.442G>A p.V148M Substitution - Missense 3:156544357-156544357 - SNUH_G16_S1 COSM4002497 c.360-4G>C p.? Unknown 3:156544443-156544443 - LIM2405 COSM1227644 c.532G>A p.A178T Substitution - Missense 3:156543229-156543229 - TCGA-BR-4184-01 COSM4114793 c.122C>T p.A41V Substitution - Missense 3:156554968-156554968 - CHC1601T COSM4805095 c.218T>C p.V73A Substitution - Missense 3:156553697-156553697 - TCGA-EJ-5526-01 COSM1130304 c.340C>T p.R114W Substitution - Missense 3:156548924-156548924 - PD24206a COSM5793517 c.193A>G p.M65V Substitution - Missense 3:156553722-156553722 - CHC1065T COSM3669101 c.33T>A p.S11S Substitution - coding silent 3:156555057-156555057 - OSCC-GB_00510111 COSM3714397 c.410C>G p.S137C Substitution - Missense 3:156544389-156544389 - sysucc-1030T COSM3759846 c.279G>A p.E93E Substitution - coding silent 3:156548985-156548985 - TCGA-AA-3510-01 COSM1420230 c.234G>T p.K78N Substitution - Missense 3:156553681-156553681 - TCGA-FV-A495-01 COSM4914431 c.333G>T p.K111N Substitution - Missense 3:156548931-156548931 - PD24206a COSM5797808 c.190G>C p.V64L Substitution - Missense 3:156553725-156553725 - TCGA-AX-A063-01 COSM1040369 c.29A>G p.Q10R Substitution - Missense 3:156555061-156555061 - TCGA-D1-A17H-01 COSM1040366 c.466A>G p.I156V Substitution - Missense 3:156544333-156544333 - TCGA-AP-A056-01 COSM1040365 c.518C>A p.S173* Substitution - Nonsense 3:156543243-156543243 - B96 COSM1752982 c.430C>T p.L144L Substitution - coding silent 3:156544369-156544369 - YUMOOK COSM1693677 c.403A>G p.T135A Substitution - Missense 3:156544396-156544396 - 001 COSM1161848 c.26A>G p.Q9R Substitution - Missense 3:156555064-156555064 - TCGA-B5-A11E-01 COSM1040367 c.308A>C p.K103T Substitution - Missense 3:156548956-156548956 - S01022 COSM5665994 c.60C>T p.F20F Substitution - coding silent 3:156555030-156555030 - WA48 COSM241767 c.23A>T p.K8I Substitution - Missense 3:156555067-156555067 - 587284 COSM1227644 c.532G>A p.A178T Substitution - Missense 3:156543229-156543229 - TCGA-A8-A08L-01 COSM445851 c.555A>G p.K185K Substitution - coding silent 3:156543206-156543206 - 51T COSM3714397 c.410C>G p.S137C Substitution - Missense 3:156544389-156544389 - TCGA-CC-A7IJ-01 COSM4924473 c.257A>C p.H86P Substitution - Missense 3:156553658-156553658 - CHC1601T COSM4805095 c.218T>C p.V73A Substitution - Missense 3:156553697-156553697 - TCGA-DK-A3WW-01 COSM3774672 c.234G>A p.K78K Substitution - coding silent 3:156553681-156553681 - CSCC-49-T COSM4493203 c.410C>T p.S137F Substitution - Missense 3:156544389-156544389 - 3844_T COSM3945053 c.16A>T p.S6C Substitution - Missense 3:156555074-156555074 - 9583_CLM COSM5756200 c.94T>G p.F32V Substitution - Missense 3:156554996-156554996 - MAVER-1 COSM1738905 c.25C>T p.Q9* Substitution - Nonsense 3:156555065-156555065 - TCGA-DZ-6135-01 COSM3992839 c.345G>T p.K115N Substitution - Missense 3:156548919-156548919 - TCGA-AM-5820-01 COSM3759846 c.279G>A p.E93E Substitution - coding silent 3:156548985-156548985 - CHC1065T COSM3669101 c.33T>A p.S11S Substitution - coding silent 3:156555057-156555057 - TCGA-C5-A1BN-01 COSM4837160 c.230A>G p.Y77C Substitution - Missense 3:156553685-156553685 - B96-Tumor COSM1752982 c.430C>T p.L144L Substitution - coding silent 3:156544369-156544369 - TCGA-BS-A0UV-01 COSM1040368 c.305G>A p.R102Q Substitution - Missense 3:156548959-156548959 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518345;Hs.518346 3q25.31 606213 2432398|CGAP|BC017203|A/G|coding|Glu93Glu|335|Candidate; 1517419|dbSNP|BC017203|A/G|coding|Glu93Glu|335|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T IntronicSNV . c.133+179G>A 3 156272567 HC G A 3-UTRSNV . c.555+2155C>T 3 156258840 MB G A Missense p.R114W c.340C>T 3 156266713 PRAD G C Synonymous p.L31L c.93C>G 3 156272786 HNSC T C CdsStopSNV . c.555A>G 3 156260995 BRCA T C Missense p.Q10R c.29A>G 3 156272850 UCEC - TTGTGCTTG InFrameInsertion p.H86_K87insTST c.259_260insCAAGCACAA 3 156271444 GBM