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 13 98828975 98828975 + Silent SNP C C T TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr13:98828975C>T c.516G>A c.(514-516)gcG>gcA p.A172A BLCA 13 98828982 98828982 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr13:98828982C>T c.509G>A c.(508-510)gGg>gAg p.G170E BLCA 13 98828998 98828998 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr13:98828998C>T c.493G>A c.(493-495)Ggc>Agc p.G165S BLCA 13 98829136 98829136 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr13:98829136C>T c.355G>A c.(355-357)Gag>Aag p.E119K BRCA 13 98828595 98828595 + Missense_Mutation SNP C C A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 g.chr13:98828595C>A c.896G>T c.(895-897)gGc>gTc p.G299V BRCA 13 98828674 98828674 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr13:98828674G>A c.817C>T c.(817-819)Cat>Tat p.H273Y COAD 13 98828565 98828565 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr13:98828565G>A c.926C>T c.(925-927)gCg>gTg p.A309V COAD 13 98828575 98828575 + Nonsense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:98828575C>A c.916G>T c.(916-918)Gaa>Taa p.E306* COAD 13 98828795 98828795 + Missense_Mutation SNP C C A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:98828795C>A c.696G>T c.(694-696)gaG>gaT p.E232D COAD 13 98828796 98828796 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr13:98828796T>C c.695A>G c.(694-696)gAg>gGg p.E232G COAD 13 98828796 98828796 + Missense_Mutation SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr13:98828796T>C c.695A>G c.(694-696)gAg>gGg p.E232G COAD 13 98828901 98828901 + Missense_Mutation SNP T T A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr13:98828901T>A c.590A>T c.(589-591)aAg>aTg p.K197M COAD 13 98828963 98828963 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr13:98828963G>A c.528C>T c.(526-528)ccC>ccT p.P176P COAD 13 98829234 98829234 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr13:98829234G>A c.257C>T c.(256-258)gCg>gTg p.A86V COADREAD 13 98828565 98828565 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr13:98828565G>A c.926C>T c.(925-927)gCg>gTg p.A309V COADREAD 13 98828575 98828575 + Nonsense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:98828575C>A c.916G>T c.(916-918)Gaa>Taa p.E306* COADREAD 13 98828770 98828770 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:98828770C>T c.721G>A c.(721-723)Gaa>Aaa p.E241K COADREAD 13 98828795 98828795 + Missense_Mutation SNP C C A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr13:98828795C>A c.696G>T c.(694-696)gaG>gaT p.E232D COADREAD 13 98828796 98828796 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr13:98828796T>C c.695A>G c.(694-696)gAg>gGg p.E232G COADREAD 13 98828796 98828796 + Missense_Mutation SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr13:98828796T>C c.695A>G c.(694-696)gAg>gGg p.E232G COADREAD 13 98828901 98828901 + Missense_Mutation SNP T T A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr13:98828901T>A c.590A>T c.(589-591)aAg>aTg p.K197M COADREAD 13 98828963 98828963 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr13:98828963G>A c.528C>T c.(526-528)ccC>ccT p.P176P COADREAD 13 98828976 98828976 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr13:98828976G>A c.515C>T c.(514-516)gCg>gTg p.A172V COADREAD 13 98829234 98829234 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr13:98829234G>A c.257C>T c.(256-258)gCg>gTg p.A86V DLBC 13 98829048 98829048 + Missense_Mutation SNP C C T TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr13:98829048C>T c.443G>A c.(442-444)cGg>cAg p.R148Q GBMLGG 13 98828639 98828639 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:98828639G>A c.852C>T c.(850-852)ttC>ttT p.F284F GBMLGG 13 98828793 98828793 + Missense_Mutation SNP C C A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 g.chr13:98828793C>A c.698G>T c.(697-699)gGt>gTt p.G233V GBMLGG 13 98829411 98829411 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:98829411C>T c.80G>A c.(79-81)cGg>cAg p.R27Q HNSC 13 98828638 98828638 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr13:98828638G>A c.853C>T c.(853-855)Cgg>Tgg p.R285W HNSC 13 98828825 98828825 + Silent SNP G G A TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 g.chr13:98828825G>A c.666C>T c.(664-666)ctC>ctT p.L222L HNSC 13 98828834 98828834 + Silent SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr13:98828834A>G c.657T>C c.(655-657)gaT>gaC p.D219D HNSC 13 98828923 98828923 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 g.chr13:98828923C>T c.568G>A c.(568-570)Gat>Aat p.D190N HNSC 13 98829181 98829181 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 g.chr13:98829181C>T c.310G>A c.(310-312)Ggg>Agg p.G104R HNSC 13 98829284 98829284 + Silent SNP G G T TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr13:98829284G>T c.207C>A c.(205-207)ctC>ctA p.L69L KIPAN 13 98828965 98828965 + Missense_Mutation SNP G G T TCGA-BP-4347-01A-01D-1366-10 TCGA-BP-4347-11A-01D-1366-10 g.chr13:98828965G>T c.526C>A c.(526-528)Ccc>Acc p.P176T KIRC 13 98828965 98828965 + Missense_Mutation SNP G G T TCGA-BP-4347-01A-01D-1366-10 TCGA-BP-4347-11A-01D-1366-10 g.chr13:98828965G>T c.526C>A c.(526-528)Ccc>Acc p.P176T LGG 13 98828639 98828639 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:98828639G>A c.852C>T c.(850-852)ttC>ttT p.F284F LGG 13 98828793 98828793 + Missense_Mutation SNP C C A TCGA-E1-A7Z2-01A-21D-A34J-08 TCGA-E1-A7Z2-10A-01D-A34M-08 g.chr13:98828793C>A c.698G>T c.(697-699)gGt>gTt p.G233V LGG 13 98829411 98829411 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:98829411C>T c.80G>A c.(79-81)cGg>cAg p.R27Q LUAD 13 98829015 98829015 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr13:98829015G>C c.476C>G c.(475-477)cCc>cGc p.P159R LUAD 13 98829158 98829158 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr13:98829158G>T c.333C>A c.(331-333)acC>acA p.T111T LUAD 13 98829362 98829362 + Missense_Mutation SNP G G T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr13:98829362G>T c.129C>A c.(127-129)caC>caA p.H43Q LUAD 13 98829427 98829427 + Missense_Mutation SNP A A T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr13:98829427A>T c.64T>A c.(64-66)Ttc>Atc p.F22I OV 13 98828795 98828795 + Missense_Mutation SNP C C A TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 g.chr13:98828795C>A c.696G>T c.(694-696)gaG>gaT p.E232D PAAD 13 98828993 98828993 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:98828993G>A c.498C>T c.(496-498)aaC>aaT p.N166N PAAD 13 98829110 98829110 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:98829110G>A c.381C>T c.(379-381)atC>atT p.I127I PRAD 13 98829414 98829414 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 g.chr13:98829414C>A c.77G>T c.(76-78)gGa>gTa p.G26V READ 13 98828770 98828770 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:98828770C>T c.721G>A c.(721-723)Gaa>Aaa p.E241K READ 13 98828976 98828976 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr13:98828976G>A c.515C>T c.(514-516)gCg>gTg p.A172V SARC 13 98828591 98828591 + Missense_Mutation SNP G G C TCGA-DX-AB2T-01A-11D-A387-09 TCGA-DX-AB2T-10A-01D-A38A-09 g.chr13:98828591G>C c.900C>G c.(898-900)atC>atG p.I300M SKCM 13 98828564 98828564 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr13:98828564C>T c.927G>A c.(925-927)gcG>gcA p.A309A SKCM 13 98829181 98829181 + Missense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr13:98829181C>T c.310G>A c.(310-312)Ggg>Agg p.G104R SKCM 13 98829361 98829361 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr13:98829361C>T c.130G>A c.(130-132)Gga>Aga p.G44R SKCM 13 98829441 98829441 + Missense_Mutation SNP A A G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 g.chr13:98829441A>G c.50T>C c.(49-51)gTa>gCa p.V17A

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 13 98829067 98829067 single base substitution C T missense_variant E142K 424G>A BLCA-US 13 98828982 98828982 single base substitution C T missense_variant G170E 509G>A BLCA-US 13 98828998 98828998 single base substitution C T missense_variant G165S 493G>A BLCA-US 13 98829136 98829136 single base substitution C T missense_variant E119K 355G>A BRCA-EU 13 98823476 98823476 single base substitution T C downstream_gene_variant BRCA-EU 13 98824355 98824355 single base substitution C G downstream_gene_variant BRCA-EU 13 98824433 98824433 single base substitution T G downstream_gene_variant BRCA-EU 13 98824919 98824919 single base substitution G C downstream_gene_variant BRCA-EU 13 98828455 98828455 single base substitution A T intron_variant BRCA-EU 13 98829101 98829101 single base substitution G C missense_variant C130W 390C>G BRCA-EU 13 98829102 98829102 single base substitution C T missense_variant C130Y 389G>A BRCA-EU 13 98829191 98829191 single base substitution C T synonymous_variant A100A 300G>A BRCA-EU 13 98829971 98829971 single base substitution C G upstream_gene_variant BRCA-FR 13 98824355 98824355 single base substitution C G downstream_gene_variant BRCA-FR 13 98827760 98827760 single base substitution C A downstream_gene_variant BRCA-FR 13 98828455 98828455 single base substitution A T intron_variant BRCA-UK 13 98827123 98827123 single base substitution C G downstream_gene_variant BRCA-US 13 98828595 98828595 single base substitution C A missense_variant G299V 896G>T BRCA-US 13 98828674 98828674 single base substitution G A missense_variant H273Y 817C>T CLLE-ES 13 98825009 98825009 single base substitution C A downstream_gene_variant CLLE-ES 13 98826469 98826469 deletion of <=200bp G - downstream_gene_variant COAD-US 13 98828565 98828565 single base substitution G A missense_variant A309V 926C>T COAD-US 13 98828575 98828575 single base substitution C A stop_gained E306* 916G>T COAD-US 13 98829234 98829234 single base substitution G A missense_variant A86V 257C>T COCA-CN 13 98828653 98828653 single base substitution C T missense_variant A280T 838G>A COCA-CN 13 98828862 98828862 single base substitution C T missense_variant S210N 629G>A COCA-CN 13 98829260 98829260 single base substitution G A synonymous_variant H77H 231C>T ESAD-UK 13 98823066 98823066 insertion of <=200bp - T downstream_gene_variant ESAD-UK 13 98826543 98826543 single base substitution C A downstream_gene_variant ESAD-UK 13 98827912 98827912 single base substitution T G downstream_gene_variant ESAD-UK 13 98827980 98827980 single base substitution T A downstream_gene_variant ESAD-UK 13 98828155 98828155 single base substitution A G 3_prime_UTR_variant ESAD-UK 13 98828449 98828449 single base substitution T C intron_variant ESAD-UK 13 98828582 98828582 single base substitution G A synonymous_variant P303P 909C>T ESAD-UK 13 98829298 98829298 single base substitution T C missense_variant R65G 193A>G ESAD-UK 13 98829367 98829367 single base substitution C T missense_variant E42K 124G>A ESAD-UK 13 98830106 98830106 single base substitution A G upstream_gene_variant ESAD-UK 13 98834392 98834392 single base substitution T C upstream_gene_variant ESCA-CN 13 98829006 98829006 single base substitution G A missense_variant T162M 485C>T KIRC-US 13 98828965 98828965 single base substitution G T missense_variant P176T 526C>A LICA-CN 13 98829331 98829331 single base substitution C T missense_variant D54N 160G>A LICA-FR 13 98823700 98823700 single base substitution A G downstream_gene_variant LICA-FR 13 98828954 98828954 single base substitution C T synonymous_variant A179A 537G>A LICA-FR 13 98830103 98830103 single base substitution C T upstream_gene_variant LICA-FR 13 98834166 98834166 single base substitution A T upstream_gene_variant LINC-JP 13 98824501 98824501 single base substitution G A downstream_gene_variant LINC-JP 13 98829636 98829636 single base substitution C G upstream_gene_variant LINC-JP 13 98830200 98830200 single base substitution C T upstream_gene_variant LIRI-JP 13 98823397 98823397 single base substitution A G downstream_gene_variant LIRI-JP 13 98823687 98823687 single base substitution A T downstream_gene_variant LIRI-JP 13 98826192 98826192 deletion of <=200bp G - downstream_gene_variant LIRI-JP 13 98827092 98827092 single base substitution G T downstream_gene_variant LIRI-JP 13 98827172 98827172 single base substitution G C downstream_gene_variant LIRI-JP 13 98828204 98828204 single base substitution A G 3_prime_UTR_variant LIRI-JP 13 98828533 98828533 single base substitution C A intron_variant LIRI-JP 13 98829462 98829462 single base substitution G A missense_variant T10M 29C>T LIRI-JP 13 98830170 98830170 single base substitution G A upstream_gene_variant LIRI-JP 13 98830374 98830374 single base substitution T C upstream_gene_variant LIRI-JP 13 98831477 98831477 single base substitution A G upstream_gene_variant LUSC-KR 13 98829224 98829224 single base substitution G C missense_variant S89R 267C>G LUSC-KR 13 98831418 98831418 single base substitution C G upstream_gene_variant MALY-DE 13 98826742 98826742 single base substitution G T downstream_gene_variant MALY-DE 13 98828602 98828602 deletion of <=200bp T - frameshift_variant T297 MALY-DE 13 98831723 98831723 single base substitution T C upstream_gene_variant MALY-DE 13 98833207 98833207 single base substitution T A upstream_gene_variant MALY-DE 13 98833308 98833308 deletion of <=200bp T - upstream_gene_variant MELA-AU 13 98823100 98823100 single base substitution C T downstream_gene_variant MELA-AU 13 98823252 98823252 single base substitution G A downstream_gene_variant MELA-AU 13 98823530 98823530 single base substitution C T downstream_gene_variant MELA-AU 13 98823782 98823782 single base substitution C T downstream_gene_variant MELA-AU 13 98824051 98824051 single base substitution C T downstream_gene_variant MELA-AU 13 98825036 98825036 single base substitution C T downstream_gene_variant MELA-AU 13 98825452 98825452 single base substitution C T downstream_gene_variant MELA-AU 13 98826161 98826161 single base substitution C T downstream_gene_variant MELA-AU 13 98826967 98826967 single base substitution C T downstream_gene_variant MELA-AU 13 98827653 98827653 single base substitution C T downstream_gene_variant MELA-AU 13 98827718 98827718 single base substitution C T downstream_gene_variant MELA-AU 13 98827818 98827818 single base substitution C T downstream_gene_variant MELA-AU 13 98828145 98828145 single base substitution C T 3_prime_UTR_variant MELA-AU 13 98828765 98828765 single base substitution G C missense_variant N242K 726C>G MELA-AU 13 98829418 98829418 single base substitution G A missense_variant P25S 73C>T MELA-AU 13 98829919 98829919 single base substitution C A upstream_gene_variant MELA-AU 13 98830691 98830691 single base substitution C T upstream_gene_variant MELA-AU 13 98830919 98830919 single base substitution G A upstream_gene_variant MELA-AU 13 98831068 98831068 single base substitution C T upstream_gene_variant MELA-AU 13 98831085 98831085 single base substitution C T upstream_gene_variant MELA-AU 13 98831667 98831667 single base substitution C T upstream_gene_variant MELA-AU 13 98831701 98831701 single base substitution C T upstream_gene_variant MELA-AU 13 98831752 98831752 single base substitution C T upstream_gene_variant MELA-AU 13 98832038 98832038 single base substitution G A upstream_gene_variant MELA-AU 13 98832384 98832384 single base substitution G A upstream_gene_variant MELA-AU 13 98832684 98832684 single base substitution A C upstream_gene_variant MELA-AU 13 98833596 98833596 single base substitution C T upstream_gene_variant MELA-AU 13 98833857 98833857 single base substitution T C upstream_gene_variant MELA-AU 13 98833967 98833967 single base substitution C T upstream_gene_variant MELA-AU 13 98833973 98833973 single base substitution C T upstream_gene_variant MELA-AU 13 98834359 98834359 single base substitution C T upstream_gene_variant OV-AU 13 98827477 98827477 single base substitution T G downstream_gene_variant OV-AU 13 98829267 98829267 single base substitution G T missense_variant A75E 224C>A PACA-AU 13 98830729 98830729 single base substitution C T upstream_gene_variant PACA-AU 13 98832459 98832459 single base substitution C A upstream_gene_variant PACA-CA 13 98823065 98823065 insertion of <=200bp - T downstream_gene_variant PACA-CA 13 98825210 98825210 single base substitution A T downstream_gene_variant PACA-CA 13 98830908 98830908 single base substitution T C upstream_gene_variant PACA-CA 13 98832433 98832433 single base substitution G A upstream_gene_variant PACA-CA 13 98833895 98833897 deletion of <=200bp TTT - upstream_gene_variant PAEN-IT 13 98831434 98831434 single base substitution G T upstream_gene_variant PBCA-DE 13 98824768 98824768 single base substitution C T downstream_gene_variant PRAD-CA 13 98833265 98833265 single base substitution G A upstream_gene_variant PRAD-US 13 98829414 98829414 single base substitution C A missense_variant G26V 77G>T READ-US 13 98828564 98828564 single base substitution C T synonymous_variant A309A 927G>A READ-US 13 98828565 98828565 single base substitution G A missense_variant A309V 926C>T RECA-EU 13 98823074 98823074 single base substitution C A downstream_gene_variant RECA-EU 13 98832722 98832722 single base substitution A T upstream_gene_variant SKCA-BR 13 98826339 98826339 single base substitution A G downstream_gene_variant SKCA-BR 13 98827325 98827325 single base substitution C T downstream_gene_variant SKCA-BR 13 98828597 98828597 single base substitution G A synonymous_variant G298G 894C>T SKCA-BR 13 98833851 98833855 deletion of <=200bp ATTAT - upstream_gene_variant SKCA-BR 13 98833890 98833897 deletion of <=200bp ATTTATTT - upstream_gene_variant SKCA-BR 13 98833897 98833897 insertion of <=200bp - TGA upstream_gene_variant SKCM-US 13 98828564 98828564 single base substitution C T synonymous_variant A309A 927G>A SKCM-US 13 98829181 98829181 single base substitution C T missense_variant G104R 310G>A SKCM-US 13 98829361 98829361 single base substitution C T missense_variant G44R 130G>A SKCM-US 13 98829441 98829441 single base substitution A G missense_variant V17A 50T>C STAD-US 13 98828582 98828582 single base substitution G A synonymous_variant P303P 909C>T STAD-US 13 98828627 98828627 single base substitution C T synonymous_variant P288P 864G>A STAD-US 13 98828697 98828697 deletion of <=200bp T - frameshift_variant N265 STAD-US 13 98828808 98828808 single base substitution C T missense_variant R228Q 683G>A STAD-US 13 98828825 98828825 single base substitution G A synonymous_variant L222L 666C>T STAD-US 13 98828846 98828846 single base substitution G A synonymous_variant H215H 645C>T STAD-US 13 98828929 98828929 single base substitution G A missense_variant R188C 562C>T STAD-US 13 98828988 98828988 single base substitution G A missense_variant S168F 503C>T STAD-US 13 98829062 98829062 single base substitution G A synonymous_variant H143H 429C>T STAD-US 13 98829144 98829144 single base substitution T C missense_variant Q116R 347A>G STAD-US 13 98829237 98829237 single base substitution G A missense_variant A85V 254C>T STAD-US 13 98829348 98829348 single base substitution C T missense_variant S48N 143G>A STAD-US 13 98829385 98829385 single base substitution G A missense_variant R36C 106C>T STAD-US 13 98829457 98829457 single base substitution C T missense_variant D12N 34G>A STAD-US 13 98829459 98829459 single base substitution G A missense_variant A11V 32C>T STAD-US 13 98829522 98829522 single base substitution G A upstream_gene_variant THCA-SA 13 98828349 98828349 single base substitution A G 3_prime_UTR_variant THCA-SA 13 98829266 98829266 single base substitution C G synonymous_variant A75A 225G>C UCEC-US 13 98828638 98828638 single base substitution G A missense_variant R285W 853C>T UCEC-US 13 98828886 98828886 single base substitution G A missense_variant T202I 605C>T UCEC-US 13 98829117 98829117 single base substitution G A missense_variant P125L 374C>T UCEC-US 13 98829137 98829137 single base substitution G A synonymous_variant T118T 354C>T UCEC-US 13 98829149 98829149 single base substitution G A synonymous_variant F114F 342C>T UCEC-US 13 98829332 98829332 single base substitution G A synonymous_variant G53G 159C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand AOCS-170-3-5 COSM3943293 c.224C>A p.A75E Substitution - Missense 13:98177013-98177013 - TCGA-BR-8078-01 COSM4048901 c.429C>T p.H143H Substitution - coding silent 13:98176808-98176808 - Pat_65_A COSM323086 c.371C>T p.T124M Substitution - Missense 13:98176866-98176866 - TCGA-B5-A0JY-01 COSM949110 c.342C>T p.F114F Substitution - coding silent 13:98176895-98176895 - TCGA-BH-A0HA-01 COSM432647 c.817C>T p.H273Y Substitution - Missense 13:98176420-98176420 - LS411 COSM1952087 c.96C>T p.G32G Substitution - coding silent 13:98177141-98177141 - TCGA-D1-A103-01 COSM949107 c.605C>T p.T202I Substitution - Missense 13:98176632-98176632 - TCGA-BT-A20J-01 COSM416296 c.355G>A p.E119K Substitution - Missense 13:98176882-98176882 - CSCC-7-T COSM4485081 c.288C>T p.S96S Substitution - coding silent 13:98176949-98176949 - D14 COSM5006935 c.838G>A p.A280T Substitution - Missense 13:98176399-98176399 - HN_62814 COSM121006 c.443G>A p.R148Q Substitution - Missense 13:98176794-98176794 - CHC432T COSM4953973 c.537G>A p.A179A Substitution - coding silent 13:98176700-98176700 - ML_86_T_01 COSM5037649 c.894C>T p.G298G Substitution - coding silent 13:98176343-98176343 - Br27P COSM40783 c.526C>T p.P176S Substitution - Missense 13:98176711-98176711 - 2_PRE-TREATMENT COSM1722620 c.26G>A p.R9K Substitution - Missense 13:98177211-98177211 - GC_307T-GC_307N COSM4771711 c.422G>A p.R141Q Substitution - Missense 13:98176815-98176815 - T3225 COSM4721956 c.234C>T p.G78G Substitution - coding silent 13:98177003-98177003 - ESCC-141T COSM3936389 c.485C>T p.T162M Substitution - Missense 13:98176752-98176752 - TCGA-D7-8579-01 COSM4048897 c.666C>T p.L222L Substitution - coding silent 13:98176571-98176571 - B106-Tumor COSM1747543 c.424G>A p.E142K Substitution - Missense 13:98176813-98176813 - TCGA-BR-8487-01 COSM4048895 c.864G>A p.P288P Substitution - coding silent 13:98176373-98176373 - TCGA-BR-4184-01 COSM4048905 c.106C>T p.R36C Substitution - Missense 13:98177131-98177131 - CSCC-10-T COSM4503779 c.648C>T p.D216D Substitution - coding silent 13:98176589-98176589 - TCGA-HU-A4GU-01 COSM4048907 c.32C>T p.A11V Substitution - Missense 13:98177205-98177205 - I2L-P7-Tumor-Organoid COSM432647 c.817C>T p.H273Y Substitution - Missense 13:98176420-98176420 - LIM1899 COSM949111 c.159C>T p.G53G Substitution - coding silent 13:98177078-98177078 - PD13312a COSM5790305 c.389G>A p.C130Y Substitution - Missense 13:98176848-98176848 - CX-1 COSM1493153 c.764G>A p.R255K Substitution - Missense 13:98176473-98176473 - S02290 COSM5686468 c.2T>C p.M1T Substitution - Missense 13:98177235-98177235 - TCGA-BP-4347-01 COSM3360161 c.526C>A p.P176T Substitution - Missense 13:98176711-98176711 - RK052_C01 COSM1629198 c.29C>T p.T10M Substitution - Missense 13:98177208-98177208 - T407 COSM3470108 c.130G>A p.G44R Substitution - Missense 13:98177107-98177107 - I2L-P19Tb-Tumor-Organoid COSM5362133 c.153C>T p.D51D Substitution - coding silent 13:98177084-98177084 - TCGA-G4-6586-01 COSM1368141 c.257C>T p.A86V Substitution - Missense 13:98176980-98176980 - TCGA-FP-A4BE-01 COSM4048898 c.645C>T p.H215H Substitution - coding silent 13:98176592-98176592 - SNUH_G10_S1 COSM3999135 c.274G>A p.V92M Substitution - Missense 13:98176963-98176963 - TCGA-D1-A103-01 COSM949111 c.159C>T p.G53G Substitution - coding silent 13:98177078-98177078 - TCGA-HU-A4G9-01 COSM4048903 c.254C>T p.A85V Substitution - Missense 13:98176983-98176983 - Pat_63_A COSM5842806 c.416G>A p.R139Q Substitution - Missense 13:98176821-98176821 - Pat_06_A COSM5842807 c.332C>T p.T111I Substitution - Missense 13:98176905-98176905 - TCGA-EE-A3AG-06 COSM3470108 c.130G>A p.G44R Substitution - Missense 13:98177107-98177107 - TCGA-CG-5733-01 COSM4048902 c.347A>G p.Q116R Substitution - Missense 13:98176890-98176890 - CSCC-27-T COSM4528598 c.154G>A p.E52K Substitution - Missense 13:98177083-98177083 - S02350 COSM5694638 c.561G>T p.V187V Substitution - coding silent 13:98176676-98176676 - HCC080T COSM5810612 c.160G>A p.D54N Substitution - Missense 13:98177077-98177077 - TCGA-GN-A266-06 COSM432646 c.927G>A p.A309A Substitution - coding silent 13:98176310-98176310 - SNUH_G76_S1 COSM4416755 c.801C>A p.V267V Substitution - coding silent 13:98176436-98176436 - YUKAT COSM5376979 c.318G>A p.E106E Substitution - coding silent 13:98176919-98176919 - LIM2405 COSM4048898 c.645C>T p.H215H Substitution - coding silent 13:98176592-98176592 - TCGA-K4-A3WS-01 COSM3793428 c.509G>A p.G170E Substitution - Missense 13:98176728-98176728 - S01563 COSM314834 c.416G>T p.R139L Substitution - Missense 13:98176821-98176821 - CSCC-49-T COSM4546393 c.399G>A p.R133R Substitution - coding silent 13:98176838-98176838 - 465 COSM4437101 c.794A>T p.N265I Substitution - Missense 13:98176443-98176443 - TCGA-HU-A4GQ-01 COSM4048896 c.683G>A p.R228Q Substitution - Missense 13:98176554-98176554 - TCGA-F5-6814-01 COSM1368137 c.926C>T p.A309V Substitution - Missense 13:98176311-98176311 - TCGA-D1-A17Q-01 COSM949106 c.853C>T p.R285W Substitution - Missense 13:98176384-98176384 - TCGA-G4-6628-01 COSM1368137 c.926C>T p.A309V Substitution - Missense 13:98176311-98176311 - TCGA-BK-A0C9-01 COSM949108 c.374C>T p.P125L Substitution - Missense 13:98176863-98176863 - TCGA-CA-6717-01 COSM1368138 c.916G>T p.E306* Substitution - Nonsense 13:98176321-98176321 - TCGA-AX-A063-01 COSM949109 c.354C>T p.T118T Substitution - coding silent 13:98176883-98176883 - TCGA-D1-A17M-01 COSM949111 c.159C>T p.G53G Substitution - coding silent 13:98177078-98177078 - T207 COSM4721953 c.798A>G p.P266P Substitution - coding silent 13:98176439-98176439 - T3658 COSM4721952 c.938A>C p.K313T Substitution - Missense 13:98176299-98176299 - SJDES001-R COSM4576047 c.383T>A p.L128H Substitution - Missense 13:98176854-98176854 - 22T COSM109207 c.30G>A p.T10T Substitution - coding silent 13:98177207-98177207 - T2458 COSM4721954 c.796C>T p.P266S Substitution - Missense 13:98176441-98176441 - PD8979a COSM5792410 c.300G>A p.A100A Substitution - coding silent 13:98176937-98176937 - TCGA-BR-8680-01 COSM4048899 c.562C>T p.R188C Substitution - Missense 13:98176675-98176675 - TCGA-G9-6351-01 COSM3671307 c.77G>T p.G26V Substitution - Missense 13:98177160-98177160 - WSU-HN13 COSM4601664 c.500C>T p.S167F Substitution - Missense 13:98176737-98176737 - CHC432T COSM4953973 c.537G>A p.A179A Substitution - coding silent 13:98176700-98176700 - Patient5_Tu COSM1235768 c.103A>C p.K35Q Substitution - Missense 13:98177134-98177134 - TCGA-BL-A0C8-01 COSM416297 c.493G>A p.G165S Substitution - Missense 13:98176744-98176744 - S01563 COSM314834 c.416G>T p.R139L Substitution - Missense 13:98176821-98176821 - TCGA-BR-8487-01 COSM4048904 c.143G>A p.S48N Substitution - Missense 13:98177094-98177094 - TCGA-AS-3777-01 COSM1493153 c.764G>A p.R255K Substitution - Missense 13:98176473-98176473 - CAL27 COSM1368137 c.926C>T p.A309V Substitution - Missense 13:98176311-98176311 - cSCCP7 COSM140010 c.956G>A p.G319E Substitution - Missense 13:98176176-98176176 - TCGA-EI-6917-01 COSM432646 c.927G>A p.A309A Substitution - coding silent 13:98176310-98176310 - T2269 COSM949110 c.342C>T p.F114F Substitution - coding silent 13:98176895-98176895 - HT29 COSM1493153 c.764G>A p.R255K Substitution - Missense 13:98176473-98176473 - 2_RESISTANT COSM1722620 c.26G>A p.R9K Substitution - Missense 13:98177211-98177211 - CSCC-31-T COSM140010 c.956G>A p.G319E Substitution - Missense 13:98176176-98176176 - I2L-P19Tb-Tumor-Biopsy COSM5362133 c.153C>T p.D51D Substitution - coding silent 13:98177084-98177084 - TCGA-BR-7707-01 COSM4048894 c.909C>T p.P303P Substitution - coding silent 13:98176328-98176328 - CRC-06T COSM5456411 c.231C>T p.H77H Substitution - coding silent 13:98177006-98177006 - 392 COSM3723386 c.516G>A p.A172A Substitution - coding silent 13:98176721-98176721 - ESO-116 COSM1264339 c.741C>T p.S247S Substitution - coding silent 13:98176496-98176496 - YURTHE COSM1706940 c.567G>A p.W189* Substitution - Nonsense 13:98176670-98176670 - TCGA-ER-A19O-06 COSM3470109 c.50T>C p.V17A Substitution - Missense 13:98177187-98177187 - TCGA-E9-A1RB-01 COSM1477352 c.896G>T p.G299V Substitution - Missense 13:98176341-98176341 - cSCCP5 COSM138039 c.721G>A p.E241K Substitution - Missense 13:98176516-98176516 - TCGA-AP-A0LM-01 COSM949111 c.159C>T p.G53G Substitution - coding silent 13:98177078-98177078 - HCT116 COSM1677760 c.181C>T p.R61W Substitution - Missense 13:98177056-98177056 - HCT-116 COSM1677760 c.181C>T p.R61W Substitution - Missense 13:98177056-98177056 - Pat_41_B COSM5842805 c.794delA p.N265fs*43 Deletion - Frameshift 13:98176443-98176443 - 134427 COSM323086 c.371C>T p.T124M Substitution - Missense 13:98176866-98176866 - B106 COSM1747543 c.424G>A p.E142K Substitution - Missense 13:98176813-98176813 - TCGA-13-0714-01 COSM78424 c.696G>T p.E232D Substitution - Missense 13:98176541-98176541 - CH-60-T2 COSM5651284 c.551G>A p.R184H Substitution - Missense 13:98176686-98176686 - TCGA-DI-A0WH-01 COSM949112 c.156G>T p.E52D Substitution - Missense 13:98177081-98177081 - AOCS-170-1-8 COSM3943293 c.224C>A p.A75E Substitution - Missense 13:98177013-98177013 - sysucc-880T COSM5462352 c.629G>A p.S210N Substitution - Missense 13:98176608-98176608 - TCGA-HU-A4GT-01 COSM4048900 c.503C>T p.S168F Substitution - Missense 13:98176734-98176734 - CSCC-40-T COSM4557880 c.745G>A p.E249K Substitution - Missense 13:98176492-98176492 - T3020 COSM4721955 c.271G>A p.D91N Substitution - Missense 13:98176966-98176966 - HT115 COSM1264339 c.741C>T p.S247S Substitution - coding silent 13:98176496-98176496 - RK067_C01 COSM3744210 c.955+3G>T p.? Unknown 13:98176279-98176279 - C391 COSM4441628 c.79C>T p.R27W Substitution - Missense 13:98177158-98177158 - PD13312a COSM5790315 c.390C>G p.C130W Substitution - Missense 13:98176847-98176847 - TCGA-DA-A1HY-06 COSM3470107 c.310G>A p.G104R Substitution - Missense 13:98176927-98176927 - TCGA-CG-4305-01 COSM4048906 c.34G>A p.D12N Substitution - Missense 13:98177203-98177203 - I2L-P19Ta-Tumor-Organoid COSM5362128 c.299C>T p.A100V Substitution - Missense 13:98176938-98176938 - CSCC-27-T COSM4518531 c.684_685GG>AA p.E229K Substitution - Missense 13:98176552-98176553 - TCGA-BS-A0UA-01 COSM949111 c.159C>T p.G53G Substitution - coding silent 13:98177078-98177078 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.296045 13q32.2 2440533|CGAP|BC017585|A/T|non-coding||1156|Validated; 2440533|CGAP|BC025388|A/T|non-coding||1149|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V17A c.50T>C 13 98829441 CM C A Missense p.E232D c.696G>T 13 98828795 OV C A Missense p.G299V c.896G>T 13 98828595 BRCA C A Missense p.R139L c.416G>T 13 98829075 SCLC C T Missense p.D12N c.34G>A 13 98829457 STAD C T Missense p.E119K c.355G>A 13 98829136 BLCA C T Missense p.E201K c.601G>A 13 98828890 CM C T Missense p.G104R c.310G>A 13 98829181 CM C T Missense p.G165S c.493G>A 13 98828998 BLCA C T Missense p.G44R c.130G>A 13 98829361 CM C T Missense p.R148Q c.443G>A 13 98829048 HNSC G A Missense p.P125L c.374C>T 13 98829117 UCEC G A Missense p.R133W c.397C>T 13 98829094 STAD G A Missense p.R285W c.853C>T 13 98828638 HNSC G A Missense p.T124M c.371C>T 13 98829120 SCLC G T Missense p.H43Q c.129C>A 13 98829362 LUAD G T Missense p.P176T c.526C>A 13 98828965 RCCC T C Missense p.Q116R c.347A>G 13 98829144 STAD T G Missense p.Q116P c.347A>C 13 98829144 CM