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 6 90039588 90039588 + Missense_Mutation SNP C C T TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr6:90039588C>T c.767G>A c.(766-768)cGg>cAg p.R256Q BLCA 6 90045107 90045107 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr6:90045107C>G c.472G>C c.(472-474)Gat>Cat p.D158H BLCA 6 90045138 90045138 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr6:90045138G>C c.441C>G c.(439-441)ttC>ttG p.F147L BLCA 6 90052151 90052151 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr6:90052151G>T c.129C>A c.(127-129)ttC>ttA p.F43L BLCA 6 90053459 90053459 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 g.chr6:90053459C>T c.48G>A c.(46-48)atG>atA p.M16I BRCA 6 90039466 90039466 + Missense_Mutation SNP C C T TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr6:90039466C>T c.889G>A c.(889-891)Gca>Aca p.A297T BRCA 6 90039635 90039636 + Frame_Shift_Ins INS - - G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 g.chr6:90039635_90039636insG c.719_720insC c.(718-720)cctfs p.P240fs BRCA 6 90045151 90045151 + Splice_Site SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr6:90045151C>G c.e6-1 COAD 6 90039425 90039425 + Silent SNP G G A TCGA-AA-A01X-01A-21W-A096-10 TCGA-AA-A01X-11A-11W-A096-10 g.chr6:90039425G>A c.930C>T c.(928-930)aaC>aaT p.N310N COAD 6 90052127 90052127 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr6:90052127G>A c.153C>T c.(151-153)tcC>tcT p.S51S COADREAD 6 90039425 90039425 + Silent SNP G G A TCGA-AA-A01X-01A-21W-A096-10 TCGA-AA-A01X-11A-11W-A096-10 g.chr6:90039425G>A c.930C>T c.(928-930)aaC>aaT p.N310N COADREAD 6 90052127 90052127 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr6:90052127G>A c.153C>T c.(151-153)tcC>tcT p.S51S DLBC 6 90062277 90062277 + Silent SNP G G A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr6:90062277G>A c.12C>T c.(10-12)cgC>cgT p.R4R GBMLGG 6 90039674 90039674 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 g.chr6:90039674G>A c.681C>T c.(679-681)taC>taT p.Y227Y HNSC 6 90052081 90052081 + Missense_Mutation SNP C C G TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr6:90052081C>G c.199G>C c.(199-201)Gag>Cag p.E67Q KIPAN 6 90039627 90039627 + Missense_Mutation SNP G G T TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr6:90039627G>T c.728C>A c.(727-729)cCt>cAt p.P243H KIPAN 6 90047953 90047953 + Silent SNP A A T TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr6:90047953A>T c.399T>A c.(397-399)acT>acA p.T133T KIRC 6 90039627 90039627 + Missense_Mutation SNP G G T TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr6:90039627G>T c.728C>A c.(727-729)cCt>cAt p.P243H KIRP 6 90047953 90047953 + Silent SNP A A T TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr6:90047953A>T c.399T>A c.(397-399)acT>acA p.T133T LGG 6 90039674 90039674 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 g.chr6:90039674G>A c.681C>T c.(679-681)taC>taT p.Y227Y LIHC 6 90047985 90047985 + Missense_Mutation SNP C C T TCGA-G3-A25Y-01A-11D-A16V-10 TCGA-G3-A25Y-10A-01D-A16V-10 g.chr6:90047985C>T c.367G>A c.(367-369)Gga>Aga p.G123R LIHC 6 90048232 90048232 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr6:90048232delT c.268delA c.(268-270)atcfs p.I90fs LIHC 6 90053437 90053437 + Missense_Mutation SNP C C A TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr6:90053437C>A c.70G>T c.(70-72)Gat>Tat p.D24Y LUAD 6 90039406 90039406 + Nonsense_Mutation SNP C C A TCGA-05-4244-01A-01D-1105-08 TCGA-05-4244-10A-01D-1105-08 g.chr6:90039406C>A c.949G>T c.(949-951)Gag>Tag p.E317* LUAD 6 90039433 90039433 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr6:90039433G>A c.922C>T c.(922-924)Ctg>Ttg p.L308L LUAD 6 90039587 90039587 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr6:90039587C>A c.768G>T c.(766-768)cgG>cgT p.R256R LUAD 6 90045059 90045059 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr6:90045059G>T c.520C>A c.(520-522)Caa>Aaa p.Q174K LUAD 6 90052103 90052103 + Silent SNP G G A TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr6:90052103G>A c.177C>T c.(175-177)caC>caT p.H59H LUSC 6 90039657 90039657 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr6:90039657G>A c.698C>T c.(697-699)tCa>tTa p.S233L LUSC 6 90053462 90053462 + Missense_Mutation SNP T T A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr6:90053462T>A c.45A>T c.(43-45)ttA>ttT p.L15F PAAD 6 90053428 90053428 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:90053428C>A c.79G>T c.(79-81)Gat>Tat p.D27Y SARC 6 90045027 90045027 + Missense_Mutation SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 g.chr6:90045027G>T c.552C>A c.(550-552)agC>agA p.S184R SKCM 6 90039660 90039660 + Missense_Mutation SNP G G A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr6:90039660G>A c.695C>T c.(694-696)tCc>tTc p.S232F SKCM 6 90042828 90042828 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr6:90042828G>T c.655C>A c.(655-657)Cag>Aag p.Q219K

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 6 90042887 90042887 single base substitution G A missense_variant S199L 596C>T BLCA-US 6 90039588 90039588 single base substitution C T missense_variant R256Q 767G>A BLCA-US 6 90045107 90045107 single base substitution C G missense_variant D158H 472G>C BLCA-US 6 90052151 90052151 single base substitution G T missense_variant F43L 129C>A BLCA-US 6 90053459 90053459 single base substitution C T missense_variant M16I 48G>A BOCA-FR 6 90066842 90066842 single base substitution A G upstream_gene_variant BRCA-EU 6 90032782 90032782 single base substitution C G downstream_gene_variant BRCA-EU 6 90033938 90033938 single base substitution G A downstream_gene_variant BRCA-EU 6 90035723 90035723 single base substitution C G downstream_gene_variant BRCA-EU 6 90036984 90036984 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 90037764 90037764 single base substitution T A 3_prime_UTR_variant BRCA-EU 6 90037959 90037959 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 90038366 90038366 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 90039849 90039849 deletion of <=200bp A - intron_variant BRCA-EU 6 90040797 90040797 single base substitution G C intron_variant BRCA-EU 6 90041492 90041492 single base substitution C A intron_variant BRCA-EU 6 90041824 90041824 single base substitution C G intron_variant BRCA-EU 6 90041931 90041931 deletion of <=200bp A - intron_variant BRCA-EU 6 90042704 90042704 single base substitution G C intron_variant BRCA-EU 6 90044131 90044131 single base substitution A G intron_variant BRCA-EU 6 90044578 90044578 single base substitution T G intron_variant BRCA-EU 6 90044755 90044755 single base substitution C A intron_variant BRCA-EU 6 90044835 90044835 single base substitution C T intron_variant BRCA-EU 6 90046391 90046391 single base substitution G T intron_variant BRCA-EU 6 90048466 90048466 single base substitution G C intron_variant BRCA-EU 6 90049952 90049952 single base substitution G C intron_variant BRCA-EU 6 90052377 90052377 single base substitution T G intron_variant BRCA-EU 6 90054426 90054426 single base substitution T A intron_variant BRCA-EU 6 90055169 90055197 multiple base substitution (>=2bp and <=200bp) AAATTAGCCAGGCATGGTGGCGGACGCCT AATTAGCCTGGTGTGATGGCACATGCCT intron_variant BRCA-EU 6 90055538 90055538 single base substitution A C intron_variant BRCA-EU 6 90055832 90055832 single base substitution G A intron_variant BRCA-EU 6 90057829 90057829 single base substitution C T intron_variant BRCA-EU 6 90059589 90059589 single base substitution G A intron_variant BRCA-EU 6 90059853 90059853 deletion of <=200bp A - intron_variant BRCA-EU 6 90060074 90060074 insertion of <=200bp - GT intron_variant BRCA-EU 6 90061648 90061648 single base substitution C T intron_variant BRCA-EU 6 90061866 90061868 deletion of <=200bp AGA - intron_variant BRCA-EU 6 90063985 90063985 single base substitution C T upstream_gene_variant BRCA-EU 6 90065714 90065714 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 90066915 90066915 single base substitution G A upstream_gene_variant BRCA-EU 6 90066956 90066956 single base substitution G C upstream_gene_variant BRCA-FR 6 90040688 90040688 single base substitution C G intron_variant BRCA-FR 6 90044835 90044835 single base substitution C T intron_variant BRCA-FR 6 90054180 90054180 single base substitution C G intron_variant BRCA-FR 6 90054285 90054285 single base substitution C G intron_variant BRCA-FR 6 90054476 90054476 single base substitution C T intron_variant BRCA-FR 6 90057705 90057705 single base substitution C T intron_variant BRCA-FR 6 90057812 90057812 single base substitution C G intron_variant BRCA-FR 6 90057913 90057913 single base substitution C T intron_variant BRCA-FR 6 90065030 90065030 single base substitution C T upstream_gene_variant BRCA-UK 6 90041824 90041824 single base substitution C G intron_variant BRCA-UK 6 90052377 90052377 single base substitution T G intron_variant BRCA-UK 6 90055832 90055832 single base substitution G A intron_variant BRCA-UK 6 90066640 90066640 single base substitution C T upstream_gene_variant BRCA-US 6 90039466 90039466 single base substitution C T missense_variant A297T 889G>A BRCA-US 6 90039635 90039635 insertion of <=200bp - G frameshift_variant P240P? BRCA-US 6 90045151 90045151 single base substitution C G splice_acceptor_variant CLLE-ES 6 90036993 90036993 single base substitution T C 3_prime_UTR_variant COCA-CN 6 90034726 90034726 single base substitution T C downstream_gene_variant COCA-CN 6 90039464 90039464 single base substitution T C synonymous_variant A297A 891A>G COCA-CN 6 90045157 90045157 single base substitution G T splice_region_variant COCA-CN 6 90047742 90047742 single base substitution G T intron_variant COCA-CN 6 90047948 90047948 single base substitution T G missense_variant E135A 404A>C COCA-CN 6 90048389 90048389 single base substitution T G intron_variant COCA-CN 6 90052164 90052164 single base substitution A C missense_variant F39C 116T>G COCA-CN 6 90053376 90053376 single base substitution T C intron_variant COCA-CN 6 90056557 90056557 single base substitution C A intron_variant COCA-CN 6 90062208 90062208 single base substitution G A intron_variant ESAD-UK 6 90031412 90031412 single base substitution A C downstream_gene_variant ESAD-UK 6 90034427 90034427 single base substitution G A downstream_gene_variant ESAD-UK 6 90034501 90034501 single base substitution G A downstream_gene_variant ESAD-UK 6 90034841 90034841 single base substitution A C downstream_gene_variant ESAD-UK 6 90037278 90037278 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 6 90041315 90041315 single base substitution C T intron_variant ESAD-UK 6 90041870 90041870 deletion of <=200bp A - intron_variant ESAD-UK 6 90042025 90042025 single base substitution T C intron_variant ESAD-UK 6 90042054 90042054 single base substitution C G intron_variant ESAD-UK 6 90042069 90042069 single base substitution A T intron_variant ESAD-UK 6 90042665 90042665 single base substitution C A intron_variant ESAD-UK 6 90043631 90043631 single base substitution T A intron_variant ESAD-UK 6 90043944 90043944 single base substitution A G intron_variant ESAD-UK 6 90047674 90047674 single base substitution A C intron_variant ESAD-UK 6 90051971 90051971 single base substitution A T intron_variant ESAD-UK 6 90052628 90052628 single base substitution C A intron_variant ESAD-UK 6 90054292 90054292 single base substitution C T intron_variant ESAD-UK 6 90054860 90054860 single base substitution A G intron_variant ESAD-UK 6 90055896 90055896 deletion of <=200bp A - intron_variant ESAD-UK 6 90056717 90056717 single base substitution A G intron_variant ESAD-UK 6 90058910 90058910 single base substitution G A intron_variant ESAD-UK 6 90061026 90061026 single base substitution C T intron_variant ESAD-UK 6 90062505 90062505 single base substitution C T 5_prime_UTR_variant ESAD-UK 6 90062667 90062667 single base substitution A C upstream_gene_variant ESAD-UK 6 90064978 90064978 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 90065086 90065086 single base substitution G T upstream_gene_variant ESCA-CN 6 90045053 90045053 single base substitution C T missense_variant A176T 526G>A KIRC-US 6 90039627 90039627 single base substitution G T missense_variant P243H 728C>A LICA-FR 6 90046946 90046946 deletion of <=200bp T - intron_variant LICA-FR 6 90050492 90050492 single base substitution T C intron_variant LICA-FR 6 90056064 90056064 single base substitution T G intron_variant LIHC-US 6 90047985 90047985 single base substitution C T missense_variant G123R 367G>A LIHC-US 6 90053415 90053415 single base substitution G T missense_variant A31E 92C>A LIHC-US 6 90053437 90053437 single base substitution C A missense_variant D24Y 70G>T LINC-JP 6 90039219 90039219 single base substitution A C 3_prime_UTR_variant LINC-JP 6 90049152 90049152 single base substitution G A intron_variant LINC-JP 6 90052022 90052022 single base substitution C G intron_variant LINC-JP 6 90056714 90056714 single base substitution C T intron_variant LINC-JP 6 90059711 90059711 deletion of <=200bp G - intron_variant LINC-JP 6 90059750 90059750 single base substitution T C intron_variant LINC-JP 6 90059788 90059788 deletion of <=200bp A - intron_variant LINC-JP 6 90060786 90060788 deletion of <=200bp CTC - intron_variant LINC-JP 6 90062114 90062114 single base substitution C A intron_variant LINC-JP 6 90062367 90062367 single base substitution C T 5_prime_UTR_variant LIRI-JP 6 90032447 90032447 single base substitution C T downstream_gene_variant LIRI-JP 6 90036985 90036985 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 6 90037365 90037365 single base substitution C A 3_prime_UTR_variant LIRI-JP 6 90038750 90038789 deletion of <=200bp ATAACAGCATATCAAAGTGGTTACAAAGTACTCCCTCTTC - 3_prime_UTR_variant LIRI-JP 6 90040330 90040330 single base substitution T C intron_variant LIRI-JP 6 90041205 90041205 single base substitution C A intron_variant LIRI-JP 6 90042429 90042429 single base substitution T C intron_variant LIRI-JP 6 90044864 90044864 single base substitution A G intron_variant LIRI-JP 6 90045065 90045065 single base substitution C T missense_variant A172T 514G>A LIRI-JP 6 90045941 90045941 single base substitution T C intron_variant LIRI-JP 6 90051051 90051051 single base substitution C T intron_variant LIRI-JP 6 90051547 90051547 single base substitution T C intron_variant LIRI-JP 6 90052865 90052865 single base substitution T C intron_variant LIRI-JP 6 90053797 90053797 single base substitution C A intron_variant LIRI-JP 6 90057074 90057074 single base substitution T C intron_variant LIRI-JP 6 90058326 90058326 single base substitution T C intron_variant LIRI-JP 6 90061585 90061585 single base substitution A C intron_variant LIRI-JP 6 90066702 90066702 single base substitution T C upstream_gene_variant LIRI-JP 6 90067043 90067043 single base substitution G T upstream_gene_variant LUSC-KR 6 90034725 90034725 single base substitution A G downstream_gene_variant LUSC-KR 6 90035651 90035651 single base substitution A T downstream_gene_variant LUSC-KR 6 90040654 90040654 single base substitution T A intron_variant LUSC-KR 6 90048391 90048391 single base substitution T G intron_variant LUSC-KR 6 90050588 90050588 single base substitution G A intron_variant LUSC-KR 6 90052141 90052141 single base substitution C A missense_variant G47W 139G>T LUSC-KR 6 90057462 90057462 single base substitution C T intron_variant LUSC-KR 6 90060397 90060397 single base substitution C T intron_variant LUSC-KR 6 90062730 90062730 single base substitution T C upstream_gene_variant LUSC-KR 6 90064704 90064704 single base substitution T A upstream_gene_variant LUSC-KR 6 90065167 90065167 single base substitution A T upstream_gene_variant LUSC-KR 6 90066451 90066451 single base substitution T C upstream_gene_variant LUSC-KR 6 90066746 90066746 single base substitution T C upstream_gene_variant LUSC-US 6 90039657 90039657 single base substitution G A missense_variant S233L 698C>T LUSC-US 6 90053462 90053462 single base substitution T A missense_variant L15F 45A>T MALY-DE 6 90035006 90035006 single base substitution G A downstream_gene_variant MALY-DE 6 90053756 90053756 single base substitution A C intron_variant MALY-DE 6 90059788 90059788 deletion of <=200bp A - intron_variant MALY-DE 6 90060307 90060307 single base substitution T G intron_variant MALY-DE 6 90060309 90060309 single base substitution T G intron_variant MALY-DE 6 90061168 90061168 single base substitution G C intron_variant MALY-DE 6 90061527 90061527 single base substitution T C intron_variant MALY-DE 6 90061581 90061581 single base substitution G A intron_variant MALY-DE 6 90061635 90061635 single base substitution T A intron_variant MALY-DE 6 90061681 90061681 single base substitution C G intron_variant MALY-DE 6 90061743 90061743 single base substitution T C intron_variant MALY-DE 6 90061940 90061940 single base substitution T G intron_variant MALY-DE 6 90061993 90061993 single base substitution G A intron_variant MALY-DE 6 90062012 90062012 single base substitution A G intron_variant MALY-DE 6 90062148 90062148 single base substitution C G intron_variant MALY-DE 6 90062330 90062330 single base substitution A G 5_prime_UTR_variant MALY-DE 6 90063082 90063082 single base substitution C T upstream_gene_variant MALY-DE 6 90063127 90063127 single base substitution C T upstream_gene_variant MALY-DE 6 90064902 90064902 single base substitution T C upstream_gene_variant MELA-AU 6 90031717 90031717 single base substitution G A downstream_gene_variant MELA-AU 6 90032738 90032738 single base substitution G A downstream_gene_variant MELA-AU 6 90033501 90033501 single base substitution C T downstream_gene_variant MELA-AU 6 90033937 90033937 deletion of <=200bp C - downstream_gene_variant MELA-AU 6 90034112 90034112 single base substitution G A downstream_gene_variant MELA-AU 6 90034460 90034460 single base substitution A T downstream_gene_variant MELA-AU 6 90035785 90035785 single base substitution G A downstream_gene_variant MELA-AU 6 90037616 90037616 single base substitution G A 3_prime_UTR_variant MELA-AU 6 90038258 90038258 single base substitution A G 3_prime_UTR_variant MELA-AU 6 90038384 90038384 single base substitution G A 3_prime_UTR_variant MELA-AU 6 90039657 90039657 single base substitution G C stop_gained S233* 698C>G MELA-AU 6 90039763 90039763 single base substitution G C intron_variant MELA-AU 6 90039776 90039776 single base substitution G T intron_variant MELA-AU 6 90039801 90039801 single base substitution G C intron_variant MELA-AU 6 90039826 90039826 single base substitution G C intron_variant MELA-AU 6 90039868 90039868 single base substitution G C intron_variant MELA-AU 6 90041237 90041237 single base substitution C T intron_variant MELA-AU 6 90041340 90041340 single base substitution G C intron_variant MELA-AU 6 90041358 90041358 single base substitution G C intron_variant MELA-AU 6 90041679 90041679 single base substitution G A intron_variant MELA-AU 6 90041756 90041756 single base substitution C T intron_variant MELA-AU 6 90041780 90041780 single base substitution C A intron_variant MELA-AU 6 90041802 90041802 single base substitution C G intron_variant MELA-AU 6 90042035 90042035 single base substitution C G intron_variant MELA-AU 6 90042073 90042073 single base substitution C G intron_variant MELA-AU 6 90042161 90042161 single base substitution C G intron_variant MELA-AU 6 90042380 90042380 single base substitution T C intron_variant MELA-AU 6 90043004 90043004 single base substitution C T intron_variant MELA-AU 6 90043060 90043060 single base substitution C T intron_variant MELA-AU 6 90043522 90043522 single base substitution C T intron_variant MELA-AU 6 90043569 90043569 single base substitution G T intron_variant MELA-AU 6 90043913 90043913 single base substitution A C intron_variant MELA-AU 6 90043934 90043934 single base substitution G A intron_variant MELA-AU 6 90044224 90044224 single base substitution C T intron_variant MELA-AU 6 90044832 90044832 single base substitution T A intron_variant MELA-AU 6 90045159 90045159 single base substitution A T intron_variant MELA-AU 6 90045175 90045175 single base substitution G A intron_variant MELA-AU 6 90045952 90045952 single base substitution G A intron_variant MELA-AU 6 90046216 90046216 single base substitution T C intron_variant MELA-AU 6 90046321 90046321 single base substitution G A intron_variant MELA-AU 6 90046480 90046480 single base substitution G A intron_variant MELA-AU 6 90046490 90046490 single base substitution G A intron_variant MELA-AU 6 90046491 90046491 single base substitution G A intron_variant MELA-AU 6 90046984 90046984 single base substitution G A intron_variant MELA-AU 6 90048079 90048079 single base substitution G A intron_variant MELA-AU 6 90048679 90048679 single base substitution C T intron_variant MELA-AU 6 90048689 90048689 single base substitution G A intron_variant MELA-AU 6 90048920 90048920 single base substitution G A intron_variant MELA-AU 6 90049497 90049497 single base substitution G A intron_variant MELA-AU 6 90049981 90049981 single base substitution G A intron_variant MELA-AU 6 90051118 90051118 single base substitution G A intron_variant MELA-AU 6 90051676 90051676 single base substitution G A intron_variant MELA-AU 6 90052127 90052127 single base substitution G A synonymous_variant S51S 153C>T MELA-AU 6 90052431 90052431 single base substitution T G intron_variant MELA-AU 6 90052662 90052662 single base substitution T C intron_variant MELA-AU 6 90053636 90053636 single base substitution G A intron_variant MELA-AU 6 90054710 90054710 single base substitution G A intron_variant MELA-AU 6 90054715 90054715 single base substitution A G intron_variant MELA-AU 6 90054717 90054717 single base substitution G A intron_variant MELA-AU 6 90054835 90054835 single base substitution G A intron_variant MELA-AU 6 90054884 90054884 single base substitution G C intron_variant MELA-AU 6 90054942 90054942 single base substitution G A intron_variant MELA-AU 6 90055229 90055229 single base substitution G A intron_variant MELA-AU 6 90056442 90056442 single base substitution C T intron_variant MELA-AU 6 90057043 90057043 single base substitution G A intron_variant MELA-AU 6 90058112 90058112 single base substitution G A intron_variant MELA-AU 6 90058912 90058930 deletion of <=200bp CACCACTGCACTCCAGGCT - intron_variant MELA-AU 6 90059219 90059219 single base substitution G A intron_variant MELA-AU 6 90059687 90059687 single base substitution T A intron_variant MELA-AU 6 90059705 90059705 single base substitution T C intron_variant MELA-AU 6 90059784 90059784 single base substitution A T intron_variant MELA-AU 6 90060782 90060782 single base substitution G A intron_variant MELA-AU 6 90061975 90061976 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 90062005 90062005 single base substitution C T intron_variant MELA-AU 6 90062414 90062414 single base substitution C T 5_prime_UTR_variant MELA-AU 6 90062543 90062544 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 6 90063227 90063227 single base substitution C T upstream_gene_variant MELA-AU 6 90063563 90063563 single base substitution G A upstream_gene_variant MELA-AU 6 90063923 90063923 single base substitution C T upstream_gene_variant MELA-AU 6 90064010 90064010 single base substitution A T upstream_gene_variant MELA-AU 6 90064814 90064814 single base substitution G A upstream_gene_variant MELA-AU 6 90065667 90065667 single base substitution G T upstream_gene_variant MELA-AU 6 90065801 90065801 single base substitution C T upstream_gene_variant MELA-AU 6 90067224 90067225 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 90067315 90067315 single base substitution C A upstream_gene_variant ORCA-IN 6 90034555 90034555 single base substitution C G downstream_gene_variant OV-AU 6 90031607 90031607 single base substitution G T downstream_gene_variant OV-AU 6 90033142 90033142 single base substitution G A downstream_gene_variant OV-AU 6 90034474 90034474 single base substitution C T downstream_gene_variant OV-AU 6 90037044 90037044 single base substitution A G 3_prime_UTR_variant OV-AU 6 90039291 90039291 single base substitution G A 3_prime_UTR_variant OV-AU 6 90040160 90040160 single base substitution G A intron_variant OV-AU 6 90044551 90044551 single base substitution G C intron_variant OV-AU 6 90047036 90047036 single base substitution T C intron_variant PACA-AU 6 90035225 90035225 single base substitution C T downstream_gene_variant PACA-AU 6 90035230 90035230 single base substitution C T downstream_gene_variant PACA-AU 6 90035278 90035278 single base substitution C T downstream_gene_variant PACA-AU 6 90035347 90035347 single base substitution C T downstream_gene_variant PACA-AU 6 90035377 90035377 single base substitution C T downstream_gene_variant PACA-AU 6 90035593 90035593 single base substitution C T downstream_gene_variant PACA-AU 6 90035698 90035698 single base substitution C T downstream_gene_variant PACA-AU 6 90035790 90035790 single base substitution C T downstream_gene_variant PACA-AU 6 90035881 90035881 single base substitution C T downstream_gene_variant PACA-AU 6 90036232 90036232 single base substitution T C downstream_gene_variant PACA-AU 6 90039130 90039130 single base substitution A G 3_prime_UTR_variant PACA-AU 6 90050462 90050469 deletion of <=200bp TATTTATT - intron_variant PACA-AU 6 90052127 90052127 single base substitution G A synonymous_variant S51S 153C>T PACA-AU 6 90062103 90062103 single base substitution G C intron_variant PACA-AU 6 90062671 90062671 single base substitution G A upstream_gene_variant PACA-AU 6 90062997 90062997 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 90063290 90063290 single base substitution C T upstream_gene_variant PACA-CA 6 90034149 90034149 single base substitution C G downstream_gene_variant PACA-CA 6 90035553 90035553 single base substitution G T downstream_gene_variant PACA-CA 6 90036537 90036537 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 6 90038456 90038456 single base substitution C T 3_prime_UTR_variant PACA-CA 6 90041931 90041931 deletion of <=200bp A - intron_variant PACA-CA 6 90048021 90048021 single base substitution C T missense_variant A111T 331G>A PACA-CA 6 90048960 90048961 deletion of <=200bp TT - intron_variant PACA-CA 6 90053349 90053349 single base substitution A C intron_variant PACA-CA 6 90053359 90053359 single base substitution A T intron_variant PACA-CA 6 90053639 90053639 single base substitution G A intron_variant PACA-CA 6 90056827 90056827 single base substitution T A intron_variant PACA-CA 6 90056877 90056877 single base substitution C G intron_variant PACA-CA 6 90063413 90063413 insertion of <=200bp - A upstream_gene_variant PACA-CA 6 90066800 90066800 single base substitution C G upstream_gene_variant PAEN-AU 6 90050518 90050518 single base substitution C T intron_variant PAEN-AU 6 90062156 90062156 single base substitution T G intron_variant PBCA-DE 6 90036450 90036450 single base substitution A C 3_prime_UTR_variant PBCA-DE 6 90037803 90037803 single base substitution C T 3_prime_UTR_variant PBCA-DE 6 90066192 90066192 single base substitution C A upstream_gene_variant PBCA-DE 6 90066314 90066314 single base substitution A C upstream_gene_variant PRAD-CA 6 90036511 90036511 single base substitution C T 3_prime_UTR_variant PRAD-CA 6 90048389 90048389 single base substitution T G intron_variant PRAD-CA 6 90048391 90048391 single base substitution T G intron_variant PRAD-CA 6 90049489 90049489 single base substitution A G intron_variant PRAD-CA 6 90056081 90056081 single base substitution G T intron_variant PRAD-CA 6 90058669 90058669 single base substitution C T intron_variant PRAD-CA 6 90060383 90060383 single base substitution A C intron_variant PRAD-CA 6 90063080 90063080 single base substitution A C upstream_gene_variant PRAD-CA 6 90066224 90066224 single base substitution G A upstream_gene_variant PRAD-UK 6 90031768 90031768 single base substitution C G downstream_gene_variant PRAD-UK 6 90037267 90037267 single base substitution C T 3_prime_UTR_variant PRAD-UK 6 90044968 90044973 deletion of <=200bp AGCAGT - intron_variant READ-US 6 90039551 90039551 single base substitution T C synonymous_variant S268S 804A>G READ-US 6 90045025 90045025 single base substitution A C missense_variant F185C 554T>G RECA-EU 6 90033202 90033202 single base substitution A T downstream_gene_variant RECA-EU 6 90034673 90034673 single base substitution G A downstream_gene_variant SKCA-BR 6 90032872 90032872 single base substitution A C downstream_gene_variant SKCA-BR 6 90034520 90034520 single base substitution C T downstream_gene_variant SKCA-BR 6 90035824 90035824 single base substitution C T downstream_gene_variant SKCA-BR 6 90036515 90036515 single base substitution A G 3_prime_UTR_variant SKCA-BR 6 90040466 90040466 single base substitution G A intron_variant SKCA-BR 6 90043432 90043432 single base substitution C T intron_variant SKCA-BR 6 90043943 90043943 single base substitution C A intron_variant SKCA-BR 6 90045683 90045683 single base substitution G A intron_variant SKCA-BR 6 90048374 90048376 deletion of <=200bp TTG - intron_variant SKCA-BR 6 90048376 90048378 deletion of <=200bp GTT - intron_variant SKCA-BR 6 90048666 90048666 single base substitution G A intron_variant SKCA-BR 6 90051428 90051428 single base substitution G A intron_variant SKCA-BR 6 90051738 90051738 single base substitution T G intron_variant SKCA-BR 6 90057943 90057943 single base substitution G A intron_variant SKCA-BR 6 90057944 90057944 single base substitution G A intron_variant SKCA-BR 6 90065713 90065713 single base substitution G A upstream_gene_variant SKCM-US 6 90039660 90039660 single base substitution G A missense_variant S232F 695C>T STAD-US 6 90052126 90052126 single base substitution C T missense_variant D52N 154G>A THCA-SA 6 90037581 90037581 single base substitution G A 3_prime_UTR_variant UCEC-US 6 90039500 90039500 single base substitution A G synonymous_variant G285G 855T>C UCEC-US 6 90039597 90039597 single base substitution C T missense_variant R253Q 758G>A UCEC-US 6 90052043 90052043 single base substitution C T splice_region_variant UCEC-US 6 90053414 90053414 single base substitution C T synonymous_variant A31A 93G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LM-01 COSM1082455 c.855T>C p.G285G Substitution - coding silent 6:89329781-89329781 - TCGA-G2-A2EJ-01 COSM1312430 c.767G>A p.R256Q Substitution - Missense 6:89329869-89329869 - sysucc-1370T COSM5472297 c.404A>C p.E135A Substitution - Missense 6:89338229-89338229 - TCGA-EE-A29H-06 COSM3630466 c.695C>T p.S232F Substitution - Missense 6:89329941-89329941 - ESCC_BICR_017T COSM5442958 c.526G>A p.A176T Substitution - Missense 6:89335334-89335334 - pfg016T COSM1643165 c.501C>T p.S167S Substitution - coding silent 6:89335359-89335359 - TCGA-DD-A1EH-01 COSM4934211 c.92C>A p.A31E Substitution - Missense 6:89343696-89343696 - B66-Tumor COSM1754954 c.596C>T p.S199L Substitution - Missense 6:89333168-89333168 - ESO-0013 COSM1269620 c.513A>C p.Q171H Substitution - Missense 6:89335347-89335347 - LUAD-D02085 COSM363416 c.58G>A p.A20T Substitution - Missense 6:89343730-89343730 - TCGA-AP-A051-01 COSM1082458 c.93G>A p.A31A Substitution - coding silent 6:89343695-89343695 - 506 COSM5611903 c.905T>C p.I302T Substitution - Missense 6:89329731-89329731 - TCGA-60-2698-01 COSM743900 c.698C>T p.S233L Substitution - Missense 6:89329938-89329938 - PCSI_0083_Pa_X COSM3381696 c.331G>A p.A111T Substitution - Missense 6:89338302-89338302 - DLD1 COSM3178137 c.751A>C p.S251R Substitution - Missense 6:89329885-89329885 - CSCC-44-T COSM4538377 c.253G>C p.E85Q Substitution - Missense 6:89338528-89338528 - TCGA-DK-A3X1-01 COSM3777904 c.129C>A p.F43L Substitution - Missense 6:89342432-89342432 - CRC-19T COSM5482077 c.891A>G p.A297A Substitution - coding silent 6:89329745-89329745 - TCGA-51-4080-01 COSM743898 c.45A>T p.L15F Substitution - Missense 6:89343743-89343743 - TCGA-D1-A15X-01 COSM1082457 c.237G>A p.T79T Substitution - coding silent 6:89342324-89342324 - TCGA-FJ-A3Z7-01 COSM3777903 c.472G>C p.D158H Substitution - Missense 6:89335388-89335388 - HCT15 COSM3178137 c.751A>C p.S251R Substitution - Missense 6:89329885-89329885 - PCSI_0083_Pa_P COSM3381696 c.331G>A p.A111T Substitution - Missense 6:89338302-89338302 - Pat_41_B COSM5871217 c.41G>A p.R14H Substitution - Missense 6:89343747-89343747 - TCGA-DD-A113-01 COSM4925188 c.70G>T p.D24Y Substitution - Missense 6:89343718-89343718 - GC8_T COSM150133 c.930C>T p.N310N Substitution - coding silent 6:89329706-89329706 - CSCC-7-T COSM4546760 c.406G>A p.E136K Substitution - Missense 6:89338227-89338227 - TCGA-A8-A092-01 COSM451903 c.719_720insC p.T241fs*6 Insertion - Frameshift 6:89329916-89329917 - TCGA-FD-A3SP-01 COSM3777905 c.48G>A p.M16I Substitution - Missense 6:89343740-89343740 - RK071_C01 COSM1634971 c.514G>A p.A172T Substitution - Missense 6:89335346-89335346 - ATL077 COSM5710257 c.181C>T p.R61W Substitution - Missense 6:89342380-89342380 - TCGA-AN-A0AR-01 COSM451905 c.429-1G>C p.? Unknown 6:89335432-89335432 - TCGA-AA-A01X-01 COSM150133 c.930C>T p.N310N Substitution - coding silent 6:89329706-89329706 - B66 COSM1754954 c.596C>T p.S199L Substitution - Missense 6:89333168-89333168 - TCGA-B5-A0JY-01 COSM1082456 c.758G>A p.R253Q Substitution - Missense 6:89329878-89329878 - ME018T COSM225241 c.206C>T p.P69L Substitution - Missense 6:89342355-89342355 - TCGA-F5-6814-01 COSM3430941 c.804A>G p.S268S Substitution - coding silent 6:89329832-89329832 - Pat_66_A COSM5871216 c.401C>T p.P134L Substitution - Missense 6:89338232-89338232 - SA208 COSM213823 c.679T>C p.Y227H Substitution - Missense 6:89329957-89329957 - TCGA-B0-5713-01 COSM484440 c.728C>A p.P243H Substitution - Missense 6:89329908-89329908 - HCT8 COSM3178137 c.751A>C p.S251R Substitution - Missense 6:89329885-89329885 - TCGA-F5-6814-01 COSM3430942 c.554T>G p.F185C Substitution - Missense 6:89335306-89335306 - TCGA-D7-A4YV-01 COSM3876052 c.154G>A p.D52N Substitution - Missense 6:89342407-89342407 - SN12C COSM1672608 c.80A>T p.D27V Substitution - Missense 6:89343708-89343708 - TCGA-A7-A5ZV-01 COSM3831194 c.889G>A p.A297T Substitution - Missense 6:89329747-89329747 - TCGA-G3-A25Y-01 COSM4917813 c.367G>A p.G123R Substitution - Missense 6:89338266-89338266 - T1154 COSM4738678 c.127T>G p.F43V Substitution - Missense 6:89342434-89342434 - 8016470 COSM198133 c.153C>T p.S51S Substitution - coding silent 6:89342408-89342408 - PCSI_0083_Pa_P_526 COSM3381696 c.331G>A p.A111T Substitution - Missense 6:89338302-89338302 - T2940 COSM3178141 c.182G>A p.R61Q Substitution - Missense 6:89342379-89342379 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.163776 6q15 2443988|CGAP|BC013973|C/G|coding|Val229Leu|977|Validated; 2443989|CGAP|BC013973|A/C|non-coding||1271|Validated; 2443994|CGAP|BC013973|G/T|coding|Gly55Val|456|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y227H c.679T>C 6 90039676 BRCA C A Nonsense p.E317* c.949G>T 6 90039406 LUAD C A Synonymous p.L7L c.21G>T 6 90062268 LUAD C A Synonymous p.R256R c.768G>T 6 90039587 LUAD C G Missense p.E67Q c.199G>C 6 90052081 HNSC C G SpliceAcceptorSNV . c.429-1G>C 6 90045151 BRCA C T Missense p.R256Q c.767G>A 6 90039588 BLCA G A Missense p.P69L c.206C>T 6 90052074 CM G A Missense p.S232F c.695C>T 6 90039660 CM G A Synonymous p.H59H c.177C>T 6 90052103 LUAD G A Synonymous p.L308L c.922C>T 6 90039433 LUAD G A Synonymous p.S167S c.501C>T 6 90045078 STAD G C Missense p.Q182E c.544C>G 6 90045035 BRCA - G Frameshift p.T241Yfs*6 c.719dupC 6 90039636 BRCA G T Missense p.P243H c.728C>A 6 90039627 RCCC G T Missense p.Q174K c.520C>A 6 90045059 LUAD G T Missense p.Q219K c.655C>A 6 90042828 CM G T Nonsense p.S226* c.677C>A 6 90042806 LUAD T A Missense p.L15F c.45A>T 6 90053462 LUSC T G IntronicSNV . c.237+1558A>C 6 90050485 CLL T G Missense p.Q171H c.513A>C 6 90045066 ESCA