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 196281322 196281322 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr3:196281322C>G c.837G>C c.(835-837)aaG>aaC p.K279N BLCA 3 196281336 196281336 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr3:196281336C>G c.823G>C c.(823-825)Gag>Cag p.E275Q BLCA 3 196281409 196281409 + Silent SNP G G A TCGA-ZF-A9R5-01A-12D-A42E-08 TCGA-ZF-A9R5-10A-01D-A42H-08 g.chr3:196281409G>A c.750C>T c.(748-750)ctC>ctT p.L250L BLCA 3 196281454 196281454 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr3:196281454C>A c.705G>T c.(703-705)ctG>ctT p.L235L BLCA 3 196281539 196281539 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:196281539G>A c.620C>T c.(619-621)tCg>tTg p.S207L BRCA 3 196281251 196281251 + Missense_Mutation SNP T T C TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr3:196281251T>C c.908A>G c.(907-909)aAc>aGc p.N303S BRCA 3 196288326 196288326 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr3:196288326A>C c.21T>G c.(19-21)ggT>ggG p.G7G CESC 3 196287874 196287874 + Missense_Mutation SNP T T C TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 g.chr3:196287874T>C c.473A>G c.(472-474)gAt>gGt p.D158G COAD 3 196281106 196281106 + Silent SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:196281106A>C c.1053T>G c.(1051-1053)tcT>tcG p.S351S COAD 3 196281363 196281363 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:196281363T>C c.796A>G c.(796-798)Acg>Gcg p.T266A COAD 3 196288167 196288167 + Silent SNP A A G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr3:196288167A>G c.180T>C c.(178-180)tcT>tcC p.S60S COAD 3 196288167 196288167 + Silent SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr3:196288167A>G c.180T>C c.(178-180)tcT>tcC p.S60S COAD 3 196288199 196288199 + Missense_Mutation SNP C C A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:196288199C>A c.148G>T c.(148-150)Ggg>Tgg p.G50W COADREAD 3 196281106 196281106 + Silent SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:196281106A>C c.1053T>G c.(1051-1053)tcT>tcG p.S351S COADREAD 3 196281363 196281363 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:196281363T>C c.796A>G c.(796-798)Acg>Gcg p.T266A COADREAD 3 196288061 196288061 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196288061C>A c.286G>T c.(286-288)Gaa>Taa p.E96* COADREAD 3 196288167 196288167 + Silent SNP A A G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr3:196288167A>G c.180T>C c.(178-180)tcT>tcC p.S60S COADREAD 3 196288167 196288167 + Silent SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr3:196288167A>G c.180T>C c.(178-180)tcT>tcC p.S60S COADREAD 3 196288199 196288199 + Missense_Mutation SNP C C A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:196288199C>A c.148G>T c.(148-150)Ggg>Tgg p.G50W DLBC 3 196281263 196281263 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:196281263C>T c.896G>A c.(895-897)gGt>gAt p.G299D DLBC 3 196281315 196281315 + Missense_Mutation SNP T T C TCGA-GS-A9TV-01A-11D-A382-10 TCGA-GS-A9TV-10A-01D-A385-10 g.chr3:196281315T>C c.844A>G c.(844-846)Aca>Gca p.T282A HNSC 3 196281250 196281250 + Silent SNP G G A TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr3:196281250G>A c.909C>T c.(907-909)aaC>aaT p.N303N HNSC 3 196281368 196281368 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr3:196281368T>C c.791A>G c.(790-792)aAg>aGg p.K264R HNSC 3 196281517 196281517 + Silent SNP A A G TCGA-CV-A6JZ-01A-11D-A31L-08 TCGA-CV-A6JZ-10A-01D-A31J-08 g.chr3:196281517A>G c.642T>C c.(640-642)tgT>tgC p.C214C HNSC 3 196281606 196281606 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 g.chr3:196281606T>C c.553A>G c.(553-555)Atg>Gtg p.M185V HNSC 3 196288262 196288262 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr3:196288262C>G c.85G>C c.(85-87)Gag>Cag p.E29Q HNSC 3 196288299 196288299 + Silent SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr3:196288299C>G c.48G>C c.(46-48)ctG>ctC p.L16L HNSC 3 196288329 196288329 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 g.chr3:196288329C>T c.18G>A c.(16-18)acG>acA p.T6T LUAD 3 196281164 196281164 + Missense_Mutation SNP C C A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr3:196281164C>A c.995G>T c.(994-996)gGt>gTt p.G332V LUAD 3 196281205 196281205 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr3:196281205C>A c.954G>T c.(952-954)aaG>aaT p.K318N LUAD 3 196281560 196281560 + Missense_Mutation SNP G G T TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr3:196281560G>T c.599C>A c.(598-600)gCc>gAc p.A200D LUAD 3 196288032 196288032 + Silent SNP C C A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr3:196288032C>A c.315G>T c.(313-315)acG>acT p.T105T LUAD 3 196288135 196288135 + Missense_Mutation SNP T T C TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr3:196288135T>C c.212A>G c.(211-213)cAt>cGt p.H71R LUAD 3 196288274 196288274 + Missense_Mutation SNP C C A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr3:196288274C>A c.73G>T c.(73-75)Gct>Tct p.A25S LUSC 3 196281625 196281625 + Missense_Mutation SNP C C A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr3:196281625C>A c.534G>T c.(532-534)caG>caT p.Q178H OV 3 196281623 196281623 + Missense_Mutation SNP T T C TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 g.chr3:196281623T>C c.536A>G c.(535-537)gAg>gGg p.E179G OV 3 196288253 196288253 + Missense_Mutation SNP C C T TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 g.chr3:196288253C>T c.94G>A c.(94-96)Gat>Aat p.D32N READ 3 196288061 196288061 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196288061C>A c.286G>T c.(286-288)Gaa>Taa p.E96* SKCM 3 196281221 196281221 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr3:196281221C>T c.938G>A c.(937-939)gGc>gAc p.G313D SKCM 3 196281400 196281400 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr3:196281400G>A c.759C>T c.(757-759)tcC>tcT p.S253S SKCM 3 196288262 196288262 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr3:196288262C>T c.85G>A c.(85-87)Gag>Aag p.E29K

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 196281245 196281245 single base substitution G A missense_variant S144L 431C>T BLCA-CN 3 196281245 196281245 single base substitution G A missense_variant S146L 437C>T BLCA-CN 3 196281245 196281245 single base substitution G A missense_variant S305L 914C>T BRCA-EU 3 196276729 196276729 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 196277115 196277115 single base substitution G C downstream_gene_variant BRCA-EU 3 196277136 196277136 single base substitution C T downstream_gene_variant BRCA-EU 3 196281684 196281684 single base substitution C T intron_variant BRCA-EU 3 196282003 196282003 single base substitution G C intron_variant BRCA-EU 3 196282727 196282727 single base substitution G A intron_variant BRCA-EU 3 196282934 196282934 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 196282934 196282934 deletion of <=200bp A - intron_variant BRCA-EU 3 196283966 196283966 single base substitution G T downstream_gene_variant BRCA-EU 3 196283966 196283966 single base substitution G T intron_variant BRCA-EU 3 196284681 196284681 single base substitution C A downstream_gene_variant BRCA-EU 3 196284681 196284681 single base substitution C A intron_variant BRCA-EU 3 196286539 196286539 single base substitution C T downstream_gene_variant BRCA-EU 3 196286539 196286539 single base substitution C T intron_variant BRCA-EU 3 196288455 196288455 single base substitution A C intron_variant BRCA-EU 3 196288965 196288965 insertion of <=200bp - A intron_variant BRCA-EU 3 196288979 196288979 single base substitution T C intron_variant BRCA-EU 3 196289771 196289771 single base substitution G A intron_variant BRCA-EU 3 196290627 196290627 single base substitution G C intron_variant BRCA-EU 3 196295070 196295070 single base substitution G A intron_variant BRCA-EU 3 196295070 196295070 single base substitution G A upstream_gene_variant BRCA-EU 3 196297082 196297082 single base substitution G A upstream_gene_variant BRCA-EU 3 196298309 196298309 single base substitution C G upstream_gene_variant BRCA-EU 3 196298720 196298720 single base substitution T C upstream_gene_variant BRCA-EU 3 196299610 196299610 single base substitution G T upstream_gene_variant BRCA-FR 3 196282003 196282003 single base substitution G C intron_variant BRCA-FR 3 196285868 196285868 single base substitution G A downstream_gene_variant BRCA-FR 3 196285868 196285868 single base substitution G A intron_variant BRCA-FR 3 196286910 196286910 single base substitution G A downstream_gene_variant BRCA-FR 3 196286910 196286910 single base substitution G A intron_variant BRCA-FR 3 196295070 196295070 single base substitution G A intron_variant BRCA-FR 3 196295070 196295070 single base substitution G A upstream_gene_variant BRCA-FR 3 196296018 196296018 single base substitution G A upstream_gene_variant BRCA-UK 3 196280365 196280365 single base substitution T C downstream_gene_variant BRCA-UK 3 196296625 196296625 single base substitution G C upstream_gene_variant BRCA-US 3 196281251 196281251 single base substitution T C missense_variant N142S 425A>G BRCA-US 3 196281251 196281251 single base substitution T C missense_variant N144S 431A>G BRCA-US 3 196281251 196281251 single base substitution T C missense_variant N303S 908A>G BRCA-US 3 196288326 196288326 single base substitution A C intron_variant BRCA-US 3 196288326 196288326 single base substitution A C synonymous_variant G7G 21T>G CESC-US 3 196287874 196287874 single base substitution T C downstream_gene_variant CESC-US 3 196287874 196287874 single base substitution T C intron_variant CESC-US 3 196287874 196287874 single base substitution T C missense_variant D158G 473A>G CLLE-ES 3 196294385 196294385 single base substitution T C intron_variant CLLE-ES 3 196294385 196294385 single base substitution T C upstream_gene_variant COAD-US 3 196281106 196281106 single base substitution A C synonymous_variant S190S 570T>G COAD-US 3 196281106 196281106 single base substitution A C synonymous_variant S192S 576T>G COAD-US 3 196281106 196281106 single base substitution A C synonymous_variant S351S 1053T>G COAD-US 3 196281208 196281208 single base substitution T C synonymous_variant P156P 468A>G COAD-US 3 196281208 196281208 single base substitution T C synonymous_variant P158P 474A>G COAD-US 3 196281208 196281208 single base substitution T C synonymous_variant P317P 951A>G COAD-US 3 196288199 196288199 single base substitution C A intron_variant COAD-US 3 196288199 196288199 single base substitution C A missense_variant G50W 148G>T COCA-CN 3 196281538 196281538 single base substitution C T synonymous_variant S207S 621G>A COCA-CN 3 196281538 196281538 single base substitution C T synonymous_variant S46S 138G>A COCA-CN 3 196281538 196281538 single base substitution C T synonymous_variant S48S 144G>A COCA-CN 3 196288051 196288051 single base substitution C T intron_variant COCA-CN 3 196288051 196288051 single base substitution C T missense_variant C99Y 296G>A EOPC-DE 3 196280669 196280669 single base substitution A G downstream_gene_variant ESAD-UK 3 196276794 196276794 single base substitution T A downstream_gene_variant ESAD-UK 3 196278058 196278058 single base substitution G A downstream_gene_variant ESAD-UK 3 196280168 196280168 single base substitution G A downstream_gene_variant ESAD-UK 3 196282405 196282405 insertion of <=200bp - T intron_variant ESAD-UK 3 196282933 196282933 single base substitution T A downstream_gene_variant ESAD-UK 3 196282933 196282933 single base substitution T A intron_variant ESAD-UK 3 196284459 196284459 single base substitution T C downstream_gene_variant ESAD-UK 3 196284459 196284459 single base substitution T C intron_variant ESAD-UK 3 196292600 196292600 single base substitution G C intron_variant ESAD-UK 3 196297157 196297157 single base substitution G A upstream_gene_variant ESAD-UK 3 196297821 196297821 single base substitution A T upstream_gene_variant ESCA-CN 3 196281460 196281460 single base substitution C T synonymous_variant Q233Q 699G>A ESCA-CN 3 196281460 196281460 single base substitution C T synonymous_variant Q72Q 216G>A ESCA-CN 3 196281460 196281460 single base substitution C T synonymous_variant Q74Q 222G>A KIRC-US 3 196288045 196288045 single base substitution G A intron_variant KIRC-US 3 196288045 196288045 single base substitution G A missense_variant S101L 302C>T LICA-FR 3 196278266 196278267 deletion of <=200bp AA - downstream_gene_variant LICA-FR 3 196279076 196279076 single base substitution C A downstream_gene_variant LICA-FR 3 196281288 196281288 single base substitution T C missense_variant K130E 388A>G LICA-FR 3 196281288 196281288 single base substitution T C missense_variant K132E 394A>G LICA-FR 3 196281288 196281288 single base substitution T C missense_variant K291E 871A>G LICA-FR 3 196281569 196281569 single base substitution G A missense_variant P197L 590C>T LICA-FR 3 196281569 196281569 single base substitution G A missense_variant P36L 107C>T LICA-FR 3 196281569 196281569 single base substitution G A missense_variant P38L 113C>T LICA-FR 3 196281603 196281603 single base substitution C A stop_gained E186* 556G>T LICA-FR 3 196281603 196281603 single base substitution C A stop_gained E25* 73G>T LICA-FR 3 196281603 196281603 single base substitution C A stop_gained E27* 79G>T LICA-FR 3 196294623 196294623 insertion of <=200bp - TGTGTGTG intron_variant LICA-FR 3 196294623 196294623 insertion of <=200bp - TGTGTGTG upstream_gene_variant LICA-FR 3 196296162 196296162 insertion of <=200bp - T upstream_gene_variant LICA-FR 3 196299801 196299801 insertion of <=200bp - T upstream_gene_variant LINC-JP 3 196281102 196281102 single base substitution A G missense_variant Y192H 574T>C LINC-JP 3 196281102 196281102 single base substitution A G missense_variant Y194H 580T>C LINC-JP 3 196281102 196281102 single base substitution A G missense_variant Y353H 1057T>C LINC-JP 3 196283119 196283119 single base substitution A G downstream_gene_variant LINC-JP 3 196283119 196283119 single base substitution A G intron_variant LINC-JP 3 196287604 196287604 single base substitution C A downstream_gene_variant LINC-JP 3 196287604 196287604 single base substitution C A intron_variant LINC-JP 3 196288227 196288227 single base substitution T C intron_variant LINC-JP 3 196288227 196288227 single base substitution T C synonymous_variant G40G 120A>G LINC-JP 3 196288409 196288409 single base substitution C A intron_variant LINC-JP 3 196290967 196290967 single base substitution G C intron_variant LINC-JP 3 196294183 196294183 single base substitution T A intron_variant LINC-JP 3 196294183 196294183 single base substitution T A splice_region_variant LINC-JP 3 196294183 196294183 single base substitution T A upstream_gene_variant LINC-JP 3 196299337 196299337 single base substitution A G upstream_gene_variant LIRI-JP 3 196277849 196277849 single base substitution T C downstream_gene_variant LIRI-JP 3 196279264 196279264 single base substitution T G downstream_gene_variant LIRI-JP 3 196280202 196280202 single base substitution T C downstream_gene_variant LIRI-JP 3 196281654 196281654 single base substitution C T missense_variant A10T 28G>A LIRI-JP 3 196281654 196281654 single base substitution C T missense_variant A169T 505G>A LIRI-JP 3 196281654 196281654 single base substitution C T missense_variant A8T 22G>A LIRI-JP 3 196281697 196281697 single base substitution T C intron_variant LIRI-JP 3 196282121 196282121 single base substitution T C intron_variant LIRI-JP 3 196283326 196283326 single base substitution G T downstream_gene_variant LIRI-JP 3 196283326 196283326 single base substitution G T intron_variant LIRI-JP 3 196286087 196286087 single base substitution T C downstream_gene_variant LIRI-JP 3 196286087 196286087 single base substitution T C intron_variant LIRI-JP 3 196287204 196287204 single base substitution C A downstream_gene_variant LIRI-JP 3 196287204 196287204 single base substitution C A intron_variant LIRI-JP 3 196287424 196287424 single base substitution A G downstream_gene_variant LIRI-JP 3 196287424 196287424 single base substitution A G intron_variant LIRI-JP 3 196287742 196287742 single base substitution T C downstream_gene_variant LIRI-JP 3 196287742 196287742 single base substitution T C intron_variant LIRI-JP 3 196290378 196290378 single base substitution T C intron_variant LIRI-JP 3 196290815 196290815 single base substitution G C intron_variant LIRI-JP 3 196291761 196291761 single base substitution C A intron_variant LIRI-JP 3 196294881 196294881 single base substitution T C intron_variant LIRI-JP 3 196294881 196294881 single base substitution T C upstream_gene_variant LIRI-JP 3 196296417 196296417 single base substitution A G upstream_gene_variant LIRI-JP 3 196299208 196299208 single base substitution A C upstream_gene_variant LUSC-KR 3 196277073 196277073 single base substitution T C downstream_gene_variant LUSC-KR 3 196278727 196278727 single base substitution G T downstream_gene_variant LUSC-KR 3 196291562 196291562 single base substitution C T intron_variant LUSC-KR 3 196293838 196293838 single base substitution C A 5_prime_UTR_variant LUSC-KR 3 196293838 196293838 single base substitution C A intron_variant LUSC-KR 3 196295593 196295593 single base substitution C A upstream_gene_variant LUSC-KR 3 196297803 196297803 single base substitution C G upstream_gene_variant LUSC-KR 3 196298830 196298830 single base substitution C T upstream_gene_variant LUSC-US 3 196281625 196281625 single base substitution C A missense_variant Q178H 534G>T LUSC-US 3 196281625 196281625 single base substitution C A missense_variant Q17H 51G>T LUSC-US 3 196281625 196281625 single base substitution C A missense_variant Q19H 57G>T MALY-DE 3 196288522 196288522 single base substitution A G intron_variant MALY-DE 3 196296694 196296694 single base substitution T G upstream_gene_variant MALY-DE 3 196298886 196298888 deletion of <=200bp AGA - upstream_gene_variant MALY-DE 3 196300425 196300425 single base substitution G A upstream_gene_variant MALY-DE 3 196300449 196300449 single base substitution A G upstream_gene_variant MELA-AU 3 196276124 196276124 single base substitution G A downstream_gene_variant MELA-AU 3 196276445 196276445 single base substitution G A downstream_gene_variant MELA-AU 3 196276565 196276565 single base substitution A C downstream_gene_variant MELA-AU 3 196276837 196276837 single base substitution C T downstream_gene_variant MELA-AU 3 196276983 196276983 single base substitution G A downstream_gene_variant MELA-AU 3 196277010 196277010 single base substitution G A downstream_gene_variant MELA-AU 3 196277029 196277029 single base substitution G A downstream_gene_variant MELA-AU 3 196277736 196277736 single base substitution G A downstream_gene_variant MELA-AU 3 196277889 196277889 single base substitution G A downstream_gene_variant MELA-AU 3 196278178 196278178 single base substitution G A downstream_gene_variant MELA-AU 3 196279480 196279480 single base substitution A G downstream_gene_variant MELA-AU 3 196280208 196280208 single base substitution C T downstream_gene_variant MELA-AU 3 196280715 196280715 single base substitution G A downstream_gene_variant MELA-AU 3 196281054 196281054 single base substitution C A downstream_gene_variant MELA-AU 3 196281221 196281221 single base substitution C T missense_variant G152D 455G>A MELA-AU 3 196281221 196281221 single base substitution C T missense_variant G154D 461G>A MELA-AU 3 196281221 196281221 single base substitution C T missense_variant G313D 938G>A MELA-AU 3 196284009 196284009 single base substitution G A downstream_gene_variant MELA-AU 3 196284009 196284009 single base substitution G A intron_variant MELA-AU 3 196284327 196284327 single base substitution G A downstream_gene_variant MELA-AU 3 196284327 196284327 single base substitution G A intron_variant MELA-AU 3 196284731 196284731 single base substitution C T downstream_gene_variant MELA-AU 3 196284731 196284731 single base substitution C T intron_variant MELA-AU 3 196284781 196284781 single base substitution T G downstream_gene_variant MELA-AU 3 196284781 196284781 single base substitution T G intron_variant MELA-AU 3 196285298 196285298 single base substitution G A downstream_gene_variant MELA-AU 3 196285298 196285298 single base substitution G A intron_variant MELA-AU 3 196285878 196285878 single base substitution G A downstream_gene_variant MELA-AU 3 196285878 196285878 single base substitution G A intron_variant MELA-AU 3 196286481 196286481 single base substitution G A downstream_gene_variant MELA-AU 3 196286481 196286481 single base substitution G A intron_variant MELA-AU 3 196287118 196287118 single base substitution C T downstream_gene_variant MELA-AU 3 196287118 196287118 single base substitution C T intron_variant MELA-AU 3 196287360 196287360 single base substitution G C downstream_gene_variant MELA-AU 3 196287360 196287360 single base substitution G C intron_variant MELA-AU 3 196287489 196287489 single base substitution C T downstream_gene_variant MELA-AU 3 196287489 196287489 single base substitution C T intron_variant MELA-AU 3 196288412 196288412 single base substitution G A intron_variant MELA-AU 3 196288604 196288604 single base substitution G A intron_variant MELA-AU 3 196288805 196288805 single base substitution A G intron_variant MELA-AU 3 196289156 196289156 single base substitution G A intron_variant MELA-AU 3 196289724 196289724 single base substitution G A intron_variant MELA-AU 3 196291116 196291116 single base substitution G A intron_variant MELA-AU 3 196291855 196291855 single base substitution C T intron_variant MELA-AU 3 196291918 196291918 single base substitution T A intron_variant MELA-AU 3 196292879 196292879 single base substitution A G intron_variant MELA-AU 3 196293096 196293096 single base substitution G A intron_variant MELA-AU 3 196293386 196293386 single base substitution G A intron_variant MELA-AU 3 196293700 196293700 single base substitution G A intron_variant MELA-AU 3 196293717 196293717 single base substitution G A intron_variant MELA-AU 3 196293751 196293751 single base substitution G T 5_prime_UTR_variant MELA-AU 3 196293751 196293751 single base substitution G T intron_variant MELA-AU 3 196294325 196294325 single base substitution G A intron_variant MELA-AU 3 196294325 196294325 single base substitution G A upstream_gene_variant MELA-AU 3 196294388 196294388 single base substitution G A intron_variant MELA-AU 3 196294388 196294388 single base substitution G A upstream_gene_variant MELA-AU 3 196294588 196294588 single base substitution G A intron_variant MELA-AU 3 196294588 196294588 single base substitution G A upstream_gene_variant MELA-AU 3 196295376 196295376 single base substitution C T 5_prime_UTR_variant MELA-AU 3 196295376 196295376 single base substitution C T intron_variant MELA-AU 3 196295376 196295376 single base substitution C T upstream_gene_variant MELA-AU 3 196295514 196295514 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 196295514 196295514 single base substitution G A upstream_gene_variant MELA-AU 3 196295700 196295700 single base substitution C T upstream_gene_variant MELA-AU 3 196296894 196296894 single base substitution C T upstream_gene_variant MELA-AU 3 196297474 196297474 single base substitution G A upstream_gene_variant MELA-AU 3 196297824 196297824 single base substitution C T upstream_gene_variant MELA-AU 3 196298573 196298573 single base substitution C T upstream_gene_variant MELA-AU 3 196299510 196299510 single base substitution G A upstream_gene_variant ORCA-IN 3 196296007 196296007 single base substitution T C upstream_gene_variant OV-AU 3 196277078 196277078 single base substitution T C downstream_gene_variant OV-AU 3 196277966 196277966 single base substitution T A downstream_gene_variant OV-AU 3 196282771 196282771 single base substitution T G intron_variant OV-AU 3 196284719 196284719 single base substitution G A downstream_gene_variant OV-AU 3 196284719 196284719 single base substitution G A intron_variant OV-AU 3 196286400 196286400 single base substitution T C downstream_gene_variant OV-AU 3 196286400 196286400 single base substitution T C intron_variant OV-AU 3 196291156 196291156 single base substitution T A intron_variant OV-AU 3 196296445 196296445 single base substitution G C upstream_gene_variant PACA-AU 3 196278119 196278119 single base substitution A T downstream_gene_variant PACA-AU 3 196281070 196281070 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 3 196281796 196281796 single base substitution C T intron_variant PACA-AU 3 196283838 196283838 single base substitution C T downstream_gene_variant PACA-AU 3 196283838 196283838 single base substitution C T intron_variant PACA-AU 3 196286349 196286349 single base substitution A T downstream_gene_variant PACA-AU 3 196286349 196286349 single base substitution A T intron_variant PACA-AU 3 196288246 196288246 single base substitution G A intron_variant PACA-AU 3 196288246 196288246 single base substitution G A missense_variant T34M 101C>T PACA-AU 3 196289673 196289673 deletion of <=200bp C - intron_variant PACA-AU 3 196297784 196297784 single base substitution G A upstream_gene_variant PACA-CA 3 196277867 196277867 single base substitution C T downstream_gene_variant PACA-CA 3 196278112 196278112 single base substitution C A downstream_gene_variant PACA-CA 3 196279981 196279981 single base substitution G C downstream_gene_variant PACA-CA 3 196283351 196283351 single base substitution C G downstream_gene_variant PACA-CA 3 196283351 196283351 single base substitution C G intron_variant PACA-CA 3 196287192 196287192 single base substitution C A downstream_gene_variant PACA-CA 3 196287192 196287192 single base substitution C A intron_variant PACA-CA 3 196287328 196287328 single base substitution G A downstream_gene_variant PACA-CA 3 196287328 196287328 single base substitution G A intron_variant PACA-CA 3 196288105 196288105 single base substitution C T intron_variant PACA-CA 3 196288105 196288105 single base substitution C T missense_variant R81K 242G>A PACA-CA 3 196291790 196291790 single base substitution A T intron_variant PACA-CA 3 196295432 196295432 single base substitution A C 5_prime_UTR_variant PACA-CA 3 196295432 196295432 single base substitution A C upstream_gene_variant PACA-CA 3 196297177 196297177 single base substitution C T upstream_gene_variant PACA-CA 3 196297192 196297192 single base substitution T G upstream_gene_variant PACA-CA 3 196299668 196299668 single base substitution T C upstream_gene_variant PAEN-IT 3 196289398 196289398 single base substitution G T intron_variant PBCA-DE 3 196276462 196276466 deletion of <=200bp TCTCC - downstream_gene_variant PBCA-DE 3 196276468 196276468 single base substitution C A downstream_gene_variant PBCA-DE 3 196280675 196280675 single base substitution G A downstream_gene_variant PRAD-UK 3 196287200 196287200 insertion of <=200bp - C downstream_gene_variant PRAD-UK 3 196287200 196287200 insertion of <=200bp - C intron_variant RECA-EU 3 196277095 196277095 single base substitution T A downstream_gene_variant SKCA-BR 3 196276878 196276878 single base substitution T C downstream_gene_variant SKCA-BR 3 196279602 196279602 single base substitution A C downstream_gene_variant SKCA-BR 3 196281459 196281459 single base substitution C T missense_variant E234K 700G>A SKCA-BR 3 196281459 196281459 single base substitution C T missense_variant E73K 217G>A SKCA-BR 3 196281459 196281459 single base substitution C T missense_variant E75K 223G>A SKCA-BR 3 196289477 196289477 single base substitution G A intron_variant SKCA-BR 3 196291073 196291073 single base substitution G A intron_variant SKCA-BR 3 196291266 196291266 insertion of <=200bp - CTTCT intron_variant SKCA-BR 3 196295605 196295605 single base substitution T G upstream_gene_variant SKCA-BR 3 196295707 196295707 single base substitution A G upstream_gene_variant SKCA-BR 3 196296320 196296320 single base substitution C T upstream_gene_variant SKCA-BR 3 196297578 196297583 deletion of <=200bp TTTTTC - upstream_gene_variant SKCM-US 3 196281221 196281221 single base substitution C T missense_variant G152D 455G>A SKCM-US 3 196281221 196281221 single base substitution C T missense_variant G154D 461G>A SKCM-US 3 196281221 196281221 single base substitution C T missense_variant G313D 938G>A SKCM-US 3 196281400 196281400 single base substitution G A synonymous_variant S253S 759C>T SKCM-US 3 196281400 196281400 single base substitution G A synonymous_variant S92S 276C>T SKCM-US 3 196281400 196281400 single base substitution G A synonymous_variant S94S 282C>T SKCM-US 3 196288262 196288262 single base substitution C T intron_variant SKCM-US 3 196288262 196288262 single base substitution C T missense_variant E29K 85G>A STAD-US 3 196281389 196281389 single base substitution A C missense_variant L257R 770T>G STAD-US 3 196281389 196281389 single base substitution A C missense_variant L96R 287T>G STAD-US 3 196281389 196281389 single base substitution A C missense_variant L98R 293T>G STAD-US 3 196281462 196281462 single base substitution G A stop_gained Q233* 697C>T STAD-US 3 196281462 196281462 single base substitution G A stop_gained Q72* 214C>T STAD-US 3 196281462 196281462 single base substitution G A stop_gained Q74* 220C>T STAD-US 3 196287913 196287913 single base substitution C T intron_variant STAD-US 3 196287913 196287913 single base substitution C T missense_variant R145Q 434G>A STAD-US 3 196287914 196287914 single base substitution G A intron_variant STAD-US 3 196287914 196287914 single base substitution G A missense_variant R145W 433C>T STAD-US 3 196288018 196288018 single base substitution G A intron_variant STAD-US 3 196288018 196288018 single base substitution G A missense_variant A110V 329C>T STAD-US 3 196288243 196288243 single base substitution G T intron_variant STAD-US 3 196288243 196288243 single base substitution G T missense_variant A35D 104C>A STAD-US 3 196288312 196288312 single base substitution G T intron_variant STAD-US 3 196288312 196288312 single base substitution G T missense_variant P12H 35C>A UCEC-US 3 196287941 196287941 single base substitution A G intron_variant UCEC-US 3 196287941 196287941 single base substitution A G missense_variant S136P 406T>C UCEC-US 3 196288025 196288025 single base substitution G T intron_variant UCEC-US 3 196288025 196288025 single base substitution G T missense_variant L108M 322C>A UCEC-US 3 196288294 196288294 single base substitution G A intron_variant UCEC-US 3 196288294 196288294 single base substitution G A missense_variant A18V 53C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BCB109T COSM4950904 c.556G>T p.E186* Substitution - Nonsense 3:196554732-196554732 - CHLA-258 COSM2947375 c.1043G>A p.S348N Substitution - Missense 3:196554245-196554245 - 8035705 COSM3392305 c.101C>T p.T34M Substitution - Missense 3:196561375-196561375 - TCGA-CA-6718-01 COSM1422008 c.1053T>G p.S351S Substitution - coding silent 3:196554235-196554235 - BCM439T COSM4951919 c.590C>T p.P197L Substitution - Missense 3:196554698-196554698 - YUKAT COSM5398960 c.61G>A p.E21K Substitution - Missense 3:196561415-196561415 - 587350 COSM1232610 c.4G>A p.A2T Substitution - Missense 3:196561472-196561472 - TCGA-BR-8591-01 COSM4116405 c.434G>A p.R145Q Substitution - Missense 3:196561042-196561042 - PD18116a COSM5780559 c.481-6G>A p.? Unknown 3:196554813-196554813 - Gp5D COSM2947378 c.953A>G p.K318R Substitution - Missense 3:196554335-196554335 - T1154 COSM4740992 c.651A>C p.E217D Substitution - Missense 3:196554637-196554637 - BCM439T COSM4951919 c.590C>T p.P197L Substitution - Missense 3:196554698-196554698 - HCC108T COSM1617407 c.120A>G p.G40G Substitution - coding silent 3:196561356-196561356 - TCGA-AM-5820-01 COSM3760000 c.951A>G p.P317P Substitution - coding silent 3:196554337-196554337 - HCT116 COSM2947398 c.138G>A p.T46T Substitution - coding silent 3:196561338-196561338 - TCGA-A8-A09Z-01 COSM3847161 c.908A>G p.N303S Substitution - Missense 3:196554380-196554380 - SNU-175 COSM2947381 c.853A>G p.T285A Substitution - Missense 3:196554435-196554435 - EGC3 COSM5059616 c.798G>A p.T266T Substitution - coding silent 3:196554490-196554490 - HCC115 COSM1617406 c.1057T>C p.Y353H Substitution - Missense 3:196554231-196554231 - 201 COSM220222 c.17C>T p.T6M Substitution - Missense 3:196561459-196561459 - TCGA-BR-8078-01 COSM4116404 c.697C>T p.Q233* Substitution - Nonsense 3:196554591-196554591 - PCSI_0890_Pa_P_526 COSM5762086 c.242G>A p.R81K Substitution - Missense 3:196561234-196561234 - T26 COSM5618242 c.314C>T p.T105M Substitution - Missense 3:196561162-196561162 - TCGA-HJ-7597-01 COSM4116408 c.104C>A p.A35D Substitution - Missense 3:196561372-196561372 - CSCC-44-T COSM4565254 c.190_191CC>TT p.P64F Substitution - Missense 3:196561285-196561286 - HCC115T COSM1617406 c.1057T>C p.Y353H Substitution - Missense 3:196554231-196554231 - CSCC-44-T COSM4529019 c.157G>A p.D53N Substitution - Missense 3:196561319-196561319 - TCGA-A2-A0T5-01 COSM3847162 c.21T>G p.G7G Substitution - coding silent 3:196561455-196561455 - TCGA-FS-A1YW-06 COSM3591873 c.759C>T p.S253S Substitution - coding silent 3:196554529-196554529 - TCGA-FS-A1ZM-06 COSM3591874 c.85G>A p.E29K Substitution - Missense 3:196561391-196561391 - TCGA-BR-8680-01 COSM4116407 c.329C>T p.A110V Substitution - Missense 3:196561147-196561147 - TCGA-61-1727-01 COSM1327632 c.94G>A p.D32N Substitution - Missense 3:196561382-196561382 - 24T COSM106714 c.1004T>A p.I335K Substitution - Missense 3:196554284-196554284 - B70-Tumor COSM1753121 c.914C>T p.S305L Substitution - Missense 3:196554374-196554374 - CSCC-27-T COSM4501436 c.588C>T p.N196N Substitution - coding silent 3:196554700-196554700 - YUKAT COSM5398959 c.707G>A p.G236E Substitution - Missense 3:196554581-196554581 - BCB109T COSM4950904 c.556G>T p.E186* Substitution - Nonsense 3:196554732-196554732 - Gp2D COSM2947378 c.953A>G p.K318R Substitution - Missense 3:196554335-196554335 - TCGA-36-1580-01 COSM116615 c.536A>G p.E179G Substitution - Missense 3:196554752-196554752 - B70 COSM1753121 c.914C>T p.S305L Substitution - Missense 3:196554374-196554374 - C086 COSM5541717 c.620C>T p.S207L Substitution - Missense 3:196554668-196554668 - TCGA-EE-A29C-06 COSM3591872 c.938G>A p.G313D Substitution - Missense 3:196554350-196554350 - 61 COSM5736860 c.107G>T p.W36L Substitution - Missense 3:196561369-196561369 - 35M COSM5583045 c.322C>T p.L108L Substitution - coding silent 3:196561154-196561154 - CHC1756T COSM4804466 c.871A>G p.K291E Substitution - Missense 3:196554417-196554417 - TCGA-AD-5900-01 COSM1422011 c.148G>T p.G50W Substitution - Missense 3:196561328-196561328 - TCGA-BI-A20A-01 COSM4820514 c.473A>G p.D158G Substitution - Missense 3:196561003-196561003 - 587350 COSM1232609 c.641G>A p.C214Y Substitution - Missense 3:196554647-196554647 - TCGA-B7-5818-01 COSM4116403 c.770T>G p.L257R Substitution - Missense 3:196554518-196554518 - CSCC-44-T COSM4560874 c.85G>C p.E29Q Substitution - Missense 3:196561391-196561391 - NCI-H835 COSM2947376 c.998C>A p.T333K Substitution - Missense 3:196554290-196554290 - S02296 COSM5689540 c.652G>T p.D218Y Substitution - Missense 3:196554636-196554636 - LUAD-B00915 COSM332922 c.124C>G p.P42A Substitution - Missense 3:196561352-196561352 - LUAD-E00443 COSM363960 c.621G>A p.S207S Substitution - coding silent 3:196554667-196554667 - CSCC-27-T COSM4322996 c.669C>T p.I223I Substitution - coding silent 3:196554619-196554619 - 6536 COSM1645124 c.481G>A p.V161M Substitution - Missense 3:196554807-196554807 - TCGA-BP-4166-01 COSM3365137 c.302C>T p.S101L Substitution - Missense 3:196561174-196561174 - ZZUFHECRKL-G035T COSM5440352 c.699G>A p.Q233Q Substitution - coding silent 3:196554589-196554589 - RK027_C01 COSM1633088 c.505G>A p.A169T Substitution - Missense 3:196554783-196554783 - sysucc-1397T COSM5474596 c.296G>A p.C99Y Substitution - Missense 3:196561180-196561180 - I2L-P7-Tumor-Organoid COSM5355525 c.103G>T p.A35S Substitution - Missense 3:196561373-196561373 - HCC2218 COSM32223 c.179C>G p.S60C Substitution - Missense 3:196561297-196561297 - 57 COSM5014404 c.899G>A p.G300E Substitution - Missense 3:196554389-196554389 - DLBCL-PatientB COSM220222 c.17C>T p.T6M Substitution - Missense 3:196561459-196561459 - TCGA-BR-8680-01 COSM4116406 c.433C>T p.R145W Substitution - Missense 3:196561043-196561043 - CH-LA4 COSM4166340 c.673C>G p.R225G Substitution - Missense 3:196554615-196554615 - TCGA-BR-8487-01 COSM4116409 c.35C>A p.P12H Substitution - Missense 3:196561441-196561441 - CHC1756T COSM4804466 c.871A>G p.K291E Substitution - Missense 3:196554417-196554417 - sysucc-783T COSM363960 c.621G>A p.S207S Substitution - coding silent 3:196554667-196554667 - TCGA-BS-A0UF-01 COSM1043047 c.406T>C p.S136P Substitution - Missense 3:196561070-196561070 - TCGA-D1-A103-01 COSM1043048 c.322C>A p.L108M Substitution - Missense 3:196561154-196561154 - TCGA-AP-A0LG-01 COSM1043049 c.53C>T p.A18V Substitution - Missense 3:196561423-196561423 - TCGA-18-3410-01 COSM730524 c.534G>T p.Q178H Substitution - Missense 3:196554754-196554754 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.385810;Hs.385812;Hs.385813;Hs.385861;Hs.385865 3q29

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L257R c.770T>G 3 196281389 STAD - AGGTAGAATTA IntronicInsertion . c.481-202_481-201insTTCTACCTTAA 3 196281882 CM C A Missense p.A25S c.73G>T 3 196288274 LUAD C A Missense p.Q178H c.534G>T 3 196281625 LUSC C G Missense p.E29Q c.85G>C 3 196288262 HNSC C G Missense p.S60C c.179C>G 3 196288168 BRCA C G Synonymous p.L16L c.48G>C 3 196288299 HNSC C T Missense p.A169T c.505G>A 3 196281654 HC C T Missense p.E29K c.85G>A 3 196288262 CM C T Missense p.G313D c.938G>A 3 196281221 CM C T Synonymous p.T6T c.18G>A 3 196288329 HNSC G A Missense p.A18V c.53C>T 3 196288294 UCEC G A Missense p.S101L c.302C>T 3 196288045 RCCC G A Synonymous p.S253S c.759C>T 3 196281400 CM GG AA Missense p.P354L c.1061_1062delinsTT 3 196281097 CM G T Missense p.A200D c.599C>A 3 196281560 LUAD T C Missense p.E179G c.536A>G 3 196281623 OV T C Missense p.H71R c.212A>G 3 196288135 LUAD T C Missense p.K264R c.791A>G 3 196281368 HNSC T C Missense p.M185V c.553A>G 3 196281606 HNSC T C Missense p.N210D c.628A>G 3 196281531 CM T G Missense p.E124A c.371A>C 3 196287976 BRCA