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 1 118477138 118477138 + Missense_Mutation SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:118477138T>C c.214T>C c.(214-216)Tgc>Cgc p.C72R BLCA 1 118477209 118477209 + Silent SNP G G C TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr1:118477209G>C c.285G>C c.(283-285)ctG>ctC p.L95L BLCA 1 118485124 118485124 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:118485124G>T c.1054G>T c.(1054-1056)Gaa>Taa p.E352* BLCA 1 118486119 118486119 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:118486119A>G c.1198A>G c.(1198-1200)Act>Gct p.T400A BLCA 1 118486190 118486190 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:118486190C>T c.1269C>T c.(1267-1269)ttC>ttT p.F423F BLCA 1 118492623 118492623 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr1:118492623C>G c.1616C>G c.(1615-1617)tCt>tGt p.S539C BLCA 1 118492707 118492707 + Missense_Mutation SNP C C G TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr1:118492707C>G c.1700C>G c.(1699-1701)tCt>tGt p.S567C BLCA 1 118494605 118494605 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr1:118494605G>A c.1810G>A c.(1810-1812)Gca>Aca p.A604T BLCA 1 118496158 118496158 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr1:118496158G>A c.2262G>A c.(2260-2262)gtG>gtA p.V754V BLCA 1 118496687 118496687 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr1:118496687G>A c.2326G>A c.(2326-2328)Gaa>Aaa p.E776K BLCA 1 118499701 118499701 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr1:118499701G>C c.2464G>C c.(2464-2466)Gaa>Caa p.E822Q BLCA 1 118501966 118501966 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:118501966G>A c.2728G>A c.(2728-2730)Gag>Aag p.E910K BLCA 1 118502025 118502025 + Missense_Mutation SNP G G C TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr1:118502025G>C c.2787G>C c.(2785-2787)aaG>aaC p.K929N BLCA 1 118502031 118502031 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr1:118502031G>C c.2793G>C c.(2791-2793)aaG>aaC p.K931N BRCA 1 118482189 118482189 + Silent SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:118482189G>A c.669G>A c.(667-669)ctG>ctA p.L223L BRCA 1 118485115 118485115 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr1:118485115C>G c.1045C>G c.(1045-1047)Ctg>Gtg p.L349V BRCA 1 118491067 118491067 + Missense_Mutation SNP C C A TCGA-B6-A0X4-01A-11D-A10G-09 TCGA-B6-A0X4-10A-01D-A10G-09 g.chr1:118491067C>A c.1462C>A c.(1462-1464)Ctg>Atg p.L488M BRCA 1 118492688 118492688 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr1:118492688C>G c.1681C>G c.(1681-1683)Caa>Gaa p.Q561E BRCA 1 118495209 118495209 + Missense_Mutation SNP C C T TCGA-A8-A095-01A-11W-A019-09 TCGA-A8-A095-10A-01W-A021-09 g.chr1:118495209C>T c.2075C>T c.(2074-2076)tCa>tTa p.S692L CESC 1 118477108 118477108 + Nonsense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr1:118477108C>T c.184C>T c.(184-186)Cag>Tag p.Q62* CESC 1 118482165 118482165 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:118482165G>A c.645G>A c.(643-645)ctG>ctA p.L215L CESC 1 118483799 118483799 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr1:118483799G>C c.842G>C c.(841-843)aGa>aCa p.R281T CESC 1 118485082 118485082 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr1:118485082G>C c.1012G>C c.(1012-1014)Gag>Cag p.E338Q CESC 1 118486093 118486093 + Missense_Mutation SNP T T C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr1:118486093T>C c.1172T>C c.(1171-1173)tTg>tCg p.L391S CESC 1 118491033 118491033 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:118491033G>A c.1428G>A c.(1426-1428)ggG>ggA p.G476G CESC 1 118491107 118491107 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr1:118491107C>T c.1502C>T c.(1501-1503)tCc>tTc p.S501F CHOL 1 118495209 118495209 + Nonsense_Mutation SNP C C A TCGA-3X-AAVA-01A-11D-A417-09 TCGA-3X-AAVA-10A-01D-A41A-09 g.chr1:118495209C>A c.2075C>A c.(2074-2076)tCa>tAa p.S692* COAD 1 118477295 118477295 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:118477295C>T c.371C>T c.(370-372)tCt>tTt p.S124F COAD 1 118479486 118479486 + Missense_Mutation SNP G G A TCGA-AA-3692-01A-01W-0900-09 TCGA-AA-3692-10A-01W-0900-09 g.chr1:118479486G>A c.476G>A c.(475-477)cGa>cAa p.R159Q COAD 1 118483461 118483461 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:118483461G>A c.687G>A c.(685-687)ccG>ccA p.P229P COAD 1 118483502 118483502 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:118483502G>A c.728G>A c.(727-729)gGa>gAa p.G243E COAD 1 118483783 118483783 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:118483783C>T c.826C>T c.(826-828)Cgg>Tgg p.R276W COAD 1 118486134 118486134 + Missense_Mutation SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:118486134A>G c.1213A>G c.(1213-1215)Agg>Ggg p.R405G COAD 1 118486212 118486212 + Missense_Mutation SNP C C G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr1:118486212C>G c.1291C>G c.(1291-1293)Ctt>Gtt p.L431V COAD 1 118488749 118488749 + Missense_Mutation SNP G G T TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr1:118488749G>T c.1369G>T c.(1369-1371)Gca>Tca p.A457S COAD 1 118491112 118491112 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:118491112T>C c.1507T>C c.(1507-1509)Tcc>Ccc p.S503P COAD 1 118492437 118492437 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:118492437G>T c.1588G>T c.(1588-1590)Gat>Tat p.D530Y COAD 1 118496664 118496664 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:118496664G>A c.2303G>A c.(2302-2304)cGa>cAa p.R768Q COAD 1 118499758 118499758 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:118499758G>A c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K COAD 1 118499758 118499758 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:118499758G>A c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K COAD 1 118501607 118501607 + Missense_Mutation SNP C C T TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr1:118501607C>T c.2657C>T c.(2656-2658)tCa>tTa p.S886L COAD 1 118501965 118501965 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:118501965C>T c.2727C>T c.(2725-2727)tgC>tgT p.C909C COAD 1 118502045 118502045 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:118502045A>G c.2807A>G c.(2806-2808)gAg>gGg p.E936G COADREAD 1 118477295 118477295 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:118477295C>T c.371C>T c.(370-372)tCt>tTt p.S124F COADREAD 1 118479486 118479486 + Missense_Mutation SNP G G A TCGA-AA-3692-01A-01W-0900-09 TCGA-AA-3692-10A-01W-0900-09 g.chr1:118479486G>A c.476G>A c.(475-477)cGa>cAa p.R159Q COADREAD 1 118483461 118483461 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:118483461G>A c.687G>A c.(685-687)ccG>ccA p.P229P COADREAD 1 118483502 118483502 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:118483502G>A c.728G>A c.(727-729)gGa>gAa p.G243E COADREAD 1 118483783 118483783 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:118483783C>T c.826C>T c.(826-828)Cgg>Tgg p.R276W COADREAD 1 118486134 118486134 + Missense_Mutation SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:118486134A>G c.1213A>G c.(1213-1215)Agg>Ggg p.R405G COADREAD 1 118486212 118486212 + Missense_Mutation SNP C C G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr1:118486212C>G c.1291C>G c.(1291-1293)Ctt>Gtt p.L431V COADREAD 1 118488749 118488749 + Missense_Mutation SNP G G T TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr1:118488749G>T c.1369G>T c.(1369-1371)Gca>Tca p.A457S COADREAD 1 118491112 118491112 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:118491112T>C c.1507T>C c.(1507-1509)Tcc>Ccc p.S503P COADREAD 1 118492437 118492437 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:118492437G>T c.1588G>T c.(1588-1590)Gat>Tat p.D530Y COADREAD 1 118496664 118496664 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:118496664G>A c.2303G>A c.(2302-2304)cGa>cAa p.R768Q COADREAD 1 118499758 118499758 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:118499758G>A c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K COADREAD 1 118499758 118499758 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:118499758G>A c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K COADREAD 1 118501607 118501607 + Missense_Mutation SNP C C T TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr1:118501607C>T c.2657C>T c.(2656-2658)tCa>tTa p.S886L COADREAD 1 118501965 118501965 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:118501965C>T c.2727C>T c.(2725-2727)tgC>tgT p.C909C COADREAD 1 118502045 118502045 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:118502045A>G c.2807A>G c.(2806-2808)gAg>gGg p.E936G ESCA 1 118477290 118477290 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr1:118477290G>T c.366G>T c.(364-366)ctG>ctT p.L122L ESCA 1 118499808 118499808 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr1:118499808C>G c.2571C>G c.(2569-2571)ttC>ttG p.F857L GBMLGG 1 118483783 118483783 + Missense_Mutation SNP C C T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 g.chr1:118483783C>T c.826C>T c.(826-828)Cgg>Tgg p.R276W GBMLGG 1 118488742 118488742 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:118488742T>C c.1362T>C c.(1360-1362)tgT>tgC p.C454C GBMLGG 1 118501575 118501575 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:118501575A>G c.2625A>G c.(2623-2625)ccA>ccG p.P875P HNSC 1 118476009 118476009 + Missense_Mutation SNP A A G TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr1:118476009A>G c.67A>G c.(67-69)Aaa>Gaa p.K23E HNSC 1 118481110 118481110 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr1:118481110G>A c.508G>A c.(508-510)Gat>Aat p.D170N HNSC 1 118483837 118483837 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr1:118483837C>G c.880C>G c.(880-882)Ctt>Gtt p.L294V HNSC 1 118484405 118484405 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr1:118484405C>G c.924C>G c.(922-924)atC>atG p.I308M HNSC 1 118495242 118495242 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chr1:118495242A>G c.2108A>G c.(2107-2109)gAg>gGg p.E703G HNSC 1 118496120 118496120 + Missense_Mutation SNP G G T TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr1:118496120G>T c.2224G>T c.(2224-2226)Gac>Tac p.D742Y HNSC 1 118497252 118497252 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:118497252T>C c.e23+2 HNSC 1 118497948 118497948 + Missense_Mutation SNP A A T TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr1:118497948A>T c.2420A>T c.(2419-2421)tAt>tTt p.Y807F KIPAN 1 118483544 118483544 + Missense_Mutation SNP C C T TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr1:118483544C>T c.770C>T c.(769-771)aCg>aTg p.T257M KIPAN 1 118502024 118502024 + Missense_Mutation SNP A A G TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr1:118502024A>G c.2786A>G c.(2785-2787)aAg>aGg p.K929R KIRC 1 118483544 118483544 + Missense_Mutation SNP C C T TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr1:118483544C>T c.770C>T c.(769-771)aCg>aTg p.T257M KIRP 1 118502024 118502024 + Missense_Mutation SNP A A G TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr1:118502024A>G c.2786A>G c.(2785-2787)aAg>aGg p.K929R LGG 1 118483783 118483783 + Missense_Mutation SNP C C T TCGA-DB-5276-01A-01D-1468-08 TCGA-DB-5276-10A-01D-1468-08 g.chr1:118483783C>T c.826C>T c.(826-828)Cgg>Tgg p.R276W LGG 1 118488742 118488742 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:118488742T>C c.1362T>C c.(1360-1362)tgT>tgC p.C454C LGG 1 118501575 118501575 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:118501575A>G c.2625A>G c.(2623-2625)ccA>ccG p.P875P LIHC 1 118495158 118495158 + Missense_Mutation SNP A A G TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr1:118495158A>G c.2024A>G c.(2023-2025)cAc>cGc p.H675R LUAD 1 118477140 118477140 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr1:118477140C>T c.216C>T c.(214-216)tgC>tgT p.C72C LUAD 1 118477298 118477298 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr1:118477298G>T c.374G>T c.(373-375)gGg>gTg p.G125V LUAD 1 118479397 118479397 + Silent SNP A A T TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr1:118479397A>T c.387A>T c.(385-387)acA>acT p.T129T LUAD 1 118479440 118479440 + Missense_Mutation SNP C C T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr1:118479440C>T c.430C>T c.(430-432)Cgt>Tgt p.R144C LUAD 1 118479447 118479447 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr1:118479447A>T c.437A>T c.(436-438)aAg>aTg p.K146M LUAD 1 118484427 118484427 + Missense_Mutation SNP A A G TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr1:118484427A>G c.946A>G c.(946-948)Aag>Gag p.K316E LUAD 1 118485096 118485096 + Missense_Mutation SNP G G T TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr1:118485096G>T c.1026G>T c.(1024-1026)gaG>gaT p.E342D LUAD 1 118492649 118492649 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr1:118492649C>A c.1642C>A c.(1642-1644)Cta>Ata p.L548I LUAD 1 118492655 118492655 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr1:118492655G>A c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K LUAD 1 118494942 118494942 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr1:118494942C>T c.1927C>T c.(1927-1929)Ccc>Tcc p.P643S LUAD 1 118495150 118495150 + Splice_Site SNP G G T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr1:118495150G>T c.e19-1 LUAD 1 118495239 118495239 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr1:118495239delG c.2105delG c.(2104-2106)tggfs p.W702fs LUAD 1 118501533 118501533 + Splice_Site SNP G G T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr1:118501533G>T c.2583G>T c.(2581-2583)agG>agT p.R861S LUSC 1 118483498 118483499 + Missense_Mutation DNP CC CC TT TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:118483498_118483499CC>TT c.724_725CC>TT c.(724-726)CCt>TTt p.P242F LUSC 1 118491082 118491082 + Missense_Mutation SNP G G T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr1:118491082G>T c.1477G>T c.(1477-1479)Gat>Tat p.D493Y LUSC 1 118497236 118497236 + Missense_Mutation SNP T T A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr1:118497236T>A c.2395T>A c.(2395-2397)Tat>Aat p.Y799N OV 1 118484436 118484436 + Missense_Mutation SNP G G A TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr1:118484436G>A c.955G>A c.(955-957)Gat>Aat p.D319N PAAD 1 118477263 118477263 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr1:118477263G>C c.339G>C c.(337-339)ttG>ttC p.L113F PAAD 1 118485115 118485115 + Frame_Shift_Del DEL C C - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 g.chr1:118485115delC c.1045delC c.(1045-1047)ctgfs p.L349fs PAAD 1 118492397 118492397 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:118492397A>G c.1548A>G c.(1546-1548)gcA>gcG p.A516A PAAD 1 118495213 118495213 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:118495213G>A c.2079G>A c.(2077-2079)tcG>tcA p.S693S PAAD 1 118501532 118501532 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:118501532G>T c.e26-1 PRAD 1 118476063 118476063 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 g.chr1:118476063G>A c.121G>A c.(121-123)Gta>Ata p.V41I PRAD 1 118479418 118479418 + Silent SNP G G T TCGA-KK-A6E8-01A-11D-A31L-08 TCGA-KK-A6E8-11A-11D-A31J-08 g.chr1:118479418G>T c.408G>T c.(406-408)gtG>gtT p.V136V PRAD 1 118484412 118484412 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 g.chr1:118484412A>G c.931A>G c.(931-933)Aaa>Gaa p.K311E PRAD 1 118486064 118486064 + Silent SNP C C T TCGA-KK-A7B0-01A-11D-A32B-08 TCGA-KK-A7B0-11A-11D-A329-08 g.chr1:118486064C>T c.1143C>T c.(1141-1143)gtC>gtT p.V381V SARC 1 118483749 118483749 + Silent SNP A A C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 g.chr1:118483749A>C c.792A>C c.(790-792)cgA>cgC p.R264R SARC 1 118496638 118496638 + Silent SNP G G A TCGA-HS-A5N7-01A-21D-A26G-09 TCGA-HS-A5N7-10A-01D-A26G-09 g.chr1:118496638G>A c.2277G>A c.(2275-2277)agG>agA p.R759R SARC 1 118499757 118499757 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr1:118499757C>T c.2520C>T c.(2518-2520)aaC>aaT p.N840N SKCM 1 118477254 118477254 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:118477254C>T c.330C>T c.(328-330)atC>atT p.I110I SKCM 1 118479464 118479464 + Missense_Mutation SNP A A T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr1:118479464A>T c.454A>T c.(454-456)Atc>Ttc p.I152F SKCM 1 118481118 118481118 + Missense_Mutation SNP G G T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:118481118G>T c.516G>T c.(514-516)atG>atT p.M172I SKCM 1 118483757 118483757 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr1:118483757C>T c.800C>T c.(799-801)tCa>tTa p.S267L SKCM 1 118485129 118485129 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:118485129C>T c.1059C>T c.(1057-1059)atC>atT p.I353I SKCM 1 118494982 118494982 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:118494982A>G c.1967A>G c.(1966-1968)aAg>aGg p.K656R SKCM 1 118494990 118494990 + Nonsense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr1:118494990C>T c.1975C>T c.(1975-1977)Cag>Tag p.Q659* SKCM 1 118497969 118497969 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:118497969G>A c.2441G>A c.(2440-2442)gGg>gAg p.G814E SKCM 1 118497970 118497970 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:118497970G>A c.2442G>A c.(2440-2442)ggG>ggA p.G814G SKCM 1 118499763 118499763 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:118499763C>T c.2526C>T c.(2524-2526)ttC>ttT p.F842F SKCM 1 118499811 118499811 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr1:118499811C>T c.2574C>T c.(2572-2574)ttC>ttT p.F858F SKCM 1 118501574 118501574 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:118501574C>G c.2624C>G c.(2623-2625)cCa>cGa p.P875R SKCM 1 118501935 118501935 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr1:118501935G>A c.2697G>A c.(2695-2697)atG>atA p.M899I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 118476014 118476014 single base substitution T G exon_variant BLCA-US 1 118476014 118476014 single base substitution T G splice_donor_variant BLCA-US 1 118476014 118476014 single base substitution T G synonymous_variant G24G 72T>G BLCA-US 1 118486119 118486119 single base substitution A G downstream_gene_variant BLCA-US 1 118486119 118486119 single base substitution A G missense_variant T400A 1198A>G BLCA-US 1 118494605 118494605 single base substitution G A missense_variant A604T 1810G>A BLCA-US 1 118496158 118496158 single base substitution G A synonymous_variant V754V 2262G>A BLCA-US 1 118496687 118496687 single base substitution G A missense_variant E776K 2326G>A BLCA-US 1 118502031 118502031 single base substitution G C missense_variant K931N 2793G>C BLCA-US 1 118506543 118506543 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 118467968 118467968 single base substitution C T upstream_gene_variant BRCA-EU 1 118469556 118469556 single base substitution T A upstream_gene_variant BRCA-EU 1 118469852 118469852 single base substitution T C upstream_gene_variant BRCA-EU 1 118469990 118469990 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 118470737 118470737 single base substitution A C upstream_gene_variant BRCA-EU 1 118471686 118471686 single base substitution G A upstream_gene_variant BRCA-EU 1 118473496 118473496 single base substitution C T intron_variant BRCA-EU 1 118474322 118474322 single base substitution G T intron_variant BRCA-EU 1 118476728 118476728 single base substitution A G intron_variant BRCA-EU 1 118480321 118480321 single base substitution G A intron_variant BRCA-EU 1 118480464 118480464 single base substitution A G intron_variant BRCA-EU 1 118481107 118481107 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 118481107 118481107 deletion of <=200bp A - exon_variant BRCA-EU 1 118481107 118481107 deletion of <=200bp A - frameshift_variant K169 BRCA-EU 1 118481541 118481541 single base substitution C T downstream_gene_variant BRCA-EU 1 118481541 118481541 single base substitution C T intron_variant BRCA-EU 1 118481572 118481572 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 118481572 118481572 deletion of <=200bp T - intron_variant BRCA-EU 1 118481622 118481622 single base substitution G A downstream_gene_variant BRCA-EU 1 118481622 118481622 single base substitution G A intron_variant BRCA-EU 1 118484975 118484975 single base substitution C G downstream_gene_variant BRCA-EU 1 118484975 118484975 single base substitution C G intron_variant BRCA-EU 1 118487869 118487869 single base substitution T A downstream_gene_variant BRCA-EU 1 118487869 118487869 single base substitution T A intron_variant BRCA-EU 1 118488470 118488470 single base substitution C G downstream_gene_variant BRCA-EU 1 118488470 118488470 single base substitution C G intron_variant BRCA-EU 1 118490102 118490102 single base substitution C G intron_variant BRCA-EU 1 118490387 118490387 single base substitution T C intron_variant BRCA-EU 1 118492772 118492772 single base substitution C T intron_variant BRCA-EU 1 118492968 118492968 single base substitution C G intron_variant BRCA-EU 1 118493558 118493558 single base substitution C G intron_variant BRCA-EU 1 118494203 118494203 single base substitution G A intron_variant BRCA-EU 1 118494538 118494538 single base substitution G T intron_variant BRCA-EU 1 118497898 118497898 single base substitution A C intron_variant BRCA-EU 1 118500953 118500953 single base substitution A C intron_variant BRCA-EU 1 118503672 118503672 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 118504533 118504533 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 118504987 118504987 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 118508041 118508041 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 118510477 118510477 single base substitution C G downstream_gene_variant BRCA-EU 1 118512035 118512035 single base substitution C G downstream_gene_variant BRCA-EU 1 118513947 118513947 single base substitution A T downstream_gene_variant BRCA-FR 1 118471686 118471686 single base substitution G A upstream_gene_variant BRCA-FR 1 118473496 118473496 single base substitution C T intron_variant BRCA-FR 1 118490487 118490487 single base substitution T C intron_variant BRCA-FR 1 118504987 118504987 single base substitution C T 3_prime_UTR_variant BRCA-UK 1 118467968 118467968 single base substitution C T upstream_gene_variant BRCA-US 1 118482189 118482189 single base substitution G A 3_prime_UTR_variant BRCA-US 1 118482189 118482189 single base substitution G A downstream_gene_variant BRCA-US 1 118482189 118482189 single base substitution G A synonymous_variant L223L 669G>A BRCA-US 1 118485115 118485115 single base substitution C G downstream_gene_variant BRCA-US 1 118485115 118485115 single base substitution C G missense_variant L349V 1045C>G BRCA-US 1 118491067 118491067 single base substitution C A missense_variant L488M 1462C>A BRCA-US 1 118492688 118492688 single base substitution C G missense_variant Q561E 1681C>G BRCA-US 1 118495209 118495209 single base substitution C T missense_variant S692L 2075C>T BRCA-US 1 118502003 118502003 single base substitution C T missense_variant T922I 2765C>T BTCA-JP 1 118476036 118476036 single base substitution C T exon_variant BTCA-JP 1 118476036 118476036 single base substitution C T intron_variant BTCA-JP 1 118476036 118476036 single base substitution C T missense_variant R32C 94C>T BTCA-JP 1 118476180 118476180 deletion of <=200bp G - intron_variant BTCA-JP 1 118483934 118483934 deletion of <=200bp T - downstream_gene_variant BTCA-JP 1 118483934 118483934 deletion of <=200bp T - intron_variant BTCA-JP 1 118488673 118488673 single base substitution T G downstream_gene_variant BTCA-JP 1 118488673 118488673 single base substitution T G intron_variant BTCA-JP 1 118490937 118490937 deletion of <=200bp G - intron_variant BTCA-JP 1 118494970 118494970 single base substitution G A missense_variant G652E 1955G>A BTCA-JP 1 118502088 118502088 deletion of <=200bp T - 3_prime_UTR_variant CESC-US 1 118477108 118477108 single base substitution C T 3_prime_UTR_variant CESC-US 1 118477108 118477108 single base substitution C T exon_variant CESC-US 1 118477108 118477108 single base substitution C T stop_gained Q62* 184C>T CESC-US 1 118482165 118482165 single base substitution G A 3_prime_UTR_variant CESC-US 1 118482165 118482165 single base substitution G A downstream_gene_variant CESC-US 1 118482165 118482165 single base substitution G A synonymous_variant L215L 645G>A CESC-US 1 118483799 118483799 single base substitution G C 3_prime_UTR_variant CESC-US 1 118483799 118483799 single base substitution G C downstream_gene_variant CESC-US 1 118483799 118483799 single base substitution G C missense_variant R281T 842G>C CESC-US 1 118485082 118485082 single base substitution G C downstream_gene_variant CESC-US 1 118485082 118485082 single base substitution G C missense_variant E338Q 1012G>C CESC-US 1 118486093 118486093 single base substitution T C downstream_gene_variant CESC-US 1 118486093 118486093 single base substitution T C missense_variant L391S 1172T>C CESC-US 1 118491033 118491033 single base substitution G A synonymous_variant G476G 1428G>A CESC-US 1 118491107 118491107 single base substitution C T missense_variant S501F 1502C>T CESC-US 1 118512716 118512716 single base substitution G A downstream_gene_variant CLLE-ES 1 118476453 118476453 single base substitution T C intron_variant CLLE-ES 1 118481702 118481702 single base substitution C T downstream_gene_variant CLLE-ES 1 118481702 118481702 single base substitution C T intron_variant CLLE-ES 1 118485820 118485820 single base substitution C T downstream_gene_variant CLLE-ES 1 118485820 118485820 single base substitution C T intron_variant CLLE-ES 1 118485928 118485928 single base substitution A T downstream_gene_variant CLLE-ES 1 118485928 118485928 single base substitution A T intron_variant CLLE-ES 1 118494626 118494626 single base substitution G T missense_variant A611S 1831G>T CLLE-ES 1 118514138 118514138 single base substitution A G downstream_gene_variant COAD-US 1 118486134 118486134 single base substitution A G downstream_gene_variant COAD-US 1 118486134 118486134 single base substitution A G missense_variant R405G 1213A>G COAD-US 1 118486212 118486212 single base substitution C G downstream_gene_variant COAD-US 1 118486212 118486212 single base substitution C G missense_variant L431V 1291C>G COAD-US 1 118491112 118491112 single base substitution T C missense_variant S503P 1507T>C COAD-US 1 118492437 118492437 single base substitution G T missense_variant D530Y 1588G>T COAD-US 1 118496664 118496664 single base substitution G A missense_variant R768Q 2303G>A COAD-US 1 118501965 118501965 single base substitution C T synonymous_variant C909C 2727C>T COAD-US 1 118506442 118506442 single base substitution G A 3_prime_UTR_variant COAD-US 1 118509278 118509278 single base substitution G A downstream_gene_variant COCA-CN 1 118477299 118477299 single base substitution G A 3_prime_UTR_variant COCA-CN 1 118477299 118477299 single base substitution G A exon_variant COCA-CN 1 118477299 118477299 single base substitution G A synonymous_variant G125G 375G>A COCA-CN 1 118483358 118483358 single base substitution A G downstream_gene_variant COCA-CN 1 118483358 118483358 single base substitution A G intron_variant COCA-CN 1 118492729 118492729 single base substitution A C missense_variant K574N 1722A>C COCA-CN 1 118492861 118492861 single base substitution T A intron_variant COCA-CN 1 118497195 118497195 single base substitution C A splice_region_variant COCA-CN 1 118497905 118497905 single base substitution G T intron_variant COCA-CN 1 118499875 118499875 single base substitution A G intron_variant COCA-CN 1 118499922 118499922 single base substitution G A intron_variant COCA-CN 1 118501411 118501411 single base substitution G A intron_variant COCA-CN 1 118502179 118502179 single base substitution G A 3_prime_UTR_variant COCA-CN 1 118509458 118509458 single base substitution C A downstream_gene_variant COCA-CN 1 118512531 118512531 single base substitution T C downstream_gene_variant COCA-CN 1 118512543 118512543 single base substitution G T downstream_gene_variant EOPC-DE 1 118480111 118480111 single base substitution A G intron_variant ESAD-UK 1 118472700 118472700 single base substitution C T intron_variant ESAD-UK 1 118480507 118480507 single base substitution C A intron_variant ESAD-UK 1 118481243 118481243 single base substitution C T downstream_gene_variant ESAD-UK 1 118481243 118481243 single base substitution C T intron_variant ESAD-UK 1 118482331 118482331 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 118482331 118482331 insertion of <=200bp - A intron_variant ESAD-UK 1 118482472 118482472 single base substitution G T downstream_gene_variant ESAD-UK 1 118482472 118482472 single base substitution G T intron_variant ESAD-UK 1 118484124 118484124 single base substitution A G downstream_gene_variant ESAD-UK 1 118484124 118484124 single base substitution A G intron_variant ESAD-UK 1 118484405 118484405 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 118484405 118484405 single base substitution C G downstream_gene_variant ESAD-UK 1 118484405 118484405 single base substitution C G missense_variant I308M 924C>G ESAD-UK 1 118486963 118486963 single base substitution C T downstream_gene_variant ESAD-UK 1 118486963 118486963 single base substitution C T intron_variant ESAD-UK 1 118488868 118488868 single base substitution C T downstream_gene_variant ESAD-UK 1 118488868 118488868 single base substitution C T intron_variant ESAD-UK 1 118491540 118491540 single base substitution C T intron_variant ESAD-UK 1 118495676 118495676 single base substitution A T intron_variant ESAD-UK 1 118497167 118497167 deletion of <=200bp T - intron_variant ESAD-UK 1 118497864 118497864 single base substitution G C intron_variant ESAD-UK 1 118503247 118503247 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 118503891 118503891 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 118505229 118505229 single base substitution T A 3_prime_UTR_variant ESAD-UK 1 118506049 118506049 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 118508935 118508935 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 1 118509996 118509996 single base substitution G C downstream_gene_variant ESAD-UK 1 118510823 118510823 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 118511868 118511868 single base substitution C T downstream_gene_variant ESAD-UK 1 118512615 118512615 single base substitution G T downstream_gene_variant ESAD-UK 1 118513481 118513481 single base substitution G A downstream_gene_variant ESAD-UK 1 118513685 118513685 single base substitution T C downstream_gene_variant KIRC-US 1 118483544 118483544 single base substitution C T 3_prime_UTR_variant KIRC-US 1 118483544 118483544 single base substitution C T downstream_gene_variant KIRC-US 1 118483544 118483544 single base substitution C T missense_variant T257M 770C>T KIRP-US 1 118502024 118502024 single base substitution A G missense_variant K929R 2786A>G LGG-US 1 118483783 118483783 single base substitution C T 3_prime_UTR_variant LGG-US 1 118483783 118483783 single base substitution C T downstream_gene_variant LGG-US 1 118483783 118483783 single base substitution C T missense_variant R276W 826C>T LICA-CN 1 118488793 118488793 single base substitution A T downstream_gene_variant LICA-CN 1 118488793 118488793 single base substitution A T synonymous_variant I471I 1413A>T LICA-FR 1 118475945 118475946 deletion of <=200bp GG - exon_variant LICA-FR 1 118475945 118475946 deletion of <=200bp GG - frameshift_variant MG1 LICA-FR 1 118482352 118482352 single base substitution A G downstream_gene_variant LICA-FR 1 118482352 118482352 single base substitution A G intron_variant LICA-FR 1 118490384 118490384 single base substitution C G intron_variant LICA-FR 1 118491600 118491600 single base substitution T C intron_variant LICA-FR 1 118492616 118492616 single base substitution A T splice_acceptor_variant LICA-FR 1 118493486 118493486 single base substitution G T synonymous_variant L592L 1776G>T LICA-FR 1 118500697 118500697 single base substitution C G intron_variant LICA-FR 1 118502771 118502771 single base substitution A G 3_prime_UTR_variant LINC-JP 1 118468267 118468267 single base substitution T C upstream_gene_variant LINC-JP 1 118476492 118476492 single base substitution G A intron_variant LINC-JP 1 118477142 118477142 single base substitution C A 3_prime_UTR_variant LINC-JP 1 118477142 118477142 single base substitution C A exon_variant LINC-JP 1 118477142 118477142 single base substitution C A missense_variant P73H 218C>A LINC-JP 1 118479353 118479353 single base substitution A G intron_variant LINC-JP 1 118483358 118483358 single base substitution A G downstream_gene_variant LINC-JP 1 118483358 118483358 single base substitution A G intron_variant LINC-JP 1 118483429 118483429 single base substitution T C downstream_gene_variant LINC-JP 1 118483429 118483429 single base substitution T C intron_variant LINC-JP 1 118485954 118485954 single base substitution T G downstream_gene_variant LINC-JP 1 118485954 118485954 single base substitution T G intron_variant LINC-JP 1 118486161 118486161 single base substitution C T downstream_gene_variant LINC-JP 1 118486161 118486161 single base substitution C T missense_variant H414Y 1240C>T LINC-JP 1 118492010 118492010 single base substitution G T intron_variant LINC-JP 1 118492354 118492354 single base substitution A G intron_variant LINC-JP 1 118495529 118495529 insertion of <=200bp - T intron_variant LINC-JP 1 118501661 118501661 single base substitution C A intron_variant LINC-JP 1 118505031 118505031 single base substitution G A 3_prime_UTR_variant LINC-JP 1 118505821 118505821 single base substitution A G 3_prime_UTR_variant LINC-JP 1 118506623 118506623 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 118469245 118469245 single base substitution T C upstream_gene_variant LIRI-JP 1 118472301 118472301 single base substitution T A upstream_gene_variant LIRI-JP 1 118474249 118474249 single base substitution A G intron_variant LIRI-JP 1 118474502 118474502 single base substitution C T intron_variant LIRI-JP 1 118474690 118474690 single base substitution T C intron_variant LIRI-JP 1 118476094 118476094 single base substitution A G exon_variant LIRI-JP 1 118476094 118476094 single base substitution A G intron_variant LIRI-JP 1 118476094 118476094 single base substitution A G missense_variant D51G 152A>G LIRI-JP 1 118478727 118478727 single base substitution A T intron_variant LIRI-JP 1 118479619 118479619 single base substitution T G intron_variant LIRI-JP 1 118479719 118479719 single base substitution T C intron_variant LIRI-JP 1 118481940 118481940 single base substitution A G downstream_gene_variant LIRI-JP 1 118481940 118481940 single base substitution A G intron_variant LIRI-JP 1 118482757 118482757 single base substitution C G downstream_gene_variant LIRI-JP 1 118482757 118482757 single base substitution C G intron_variant LIRI-JP 1 118482759 118482759 single base substitution A G downstream_gene_variant LIRI-JP 1 118482759 118482759 single base substitution A G intron_variant LIRI-JP 1 118483734 118483734 single base substitution G T downstream_gene_variant LIRI-JP 1 118483734 118483734 single base substitution G T intron_variant LIRI-JP 1 118485201 118485201 single base substitution A G downstream_gene_variant LIRI-JP 1 118485201 118485201 single base substitution A G intron_variant LIRI-JP 1 118487259 118487259 single base substitution A G downstream_gene_variant LIRI-JP 1 118487259 118487259 single base substitution A G intron_variant LIRI-JP 1 118487588 118487588 single base substitution T G downstream_gene_variant LIRI-JP 1 118487588 118487588 single base substitution T G intron_variant LIRI-JP 1 118487753 118487753 single base substitution C T downstream_gene_variant LIRI-JP 1 118487753 118487753 single base substitution C T intron_variant LIRI-JP 1 118492645 118492645 single base substitution G T missense_variant L546F 1638G>T LIRI-JP 1 118492916 118492916 single base substitution A T intron_variant LIRI-JP 1 118492943 118492943 single base substitution A G intron_variant LIRI-JP 1 118493078 118493078 single base substitution A G intron_variant LIRI-JP 1 118493633 118493633 single base substitution T C intron_variant LIRI-JP 1 118494846 118494846 single base substitution G A intron_variant LIRI-JP 1 118495016 118495016 single base substitution C G missense_variant H667Q 2001C>G LIRI-JP 1 118495297 118495297 single base substitution A G intron_variant LIRI-JP 1 118495399 118495399 single base substitution T G intron_variant LIRI-JP 1 118496726 118496726 single base substitution A G splice_region_variant LIRI-JP 1 118497673 118497673 single base substitution T G intron_variant LIRI-JP 1 118497958 118497958 single base substitution G A synonymous_variant E810E 2430G>A LIRI-JP 1 118503958 118503958 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 118507860 118507860 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 1 118509652 118509652 single base substitution A G downstream_gene_variant LIRI-JP 1 118511815 118511815 single base substitution G T downstream_gene_variant LIRI-JP 1 118512375 118512375 single base substitution T G downstream_gene_variant LIRI-JP 1 118513572 118513572 single base substitution A G downstream_gene_variant LUSC-KR 1 118473255 118473255 single base substitution G A intron_variant LUSC-KR 1 118487731 118487731 single base substitution C T downstream_gene_variant LUSC-KR 1 118487731 118487731 single base substitution C T intron_variant LUSC-KR 1 118491208 118491208 single base substitution G A intron_variant LUSC-KR 1 118499915 118499915 single base substitution G T intron_variant LUSC-KR 1 118501407 118501407 single base substitution G T intron_variant LUSC-KR 1 118502765 118502765 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 118502771 118502771 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 118512344 118512344 single base substitution A G downstream_gene_variant LUSC-KR 1 118514031 118514031 single base substitution A T downstream_gene_variant LUSC-US 1 118483498 118483498 single base substitution C T 3_prime_UTR_variant LUSC-US 1 118483498 118483498 single base substitution C T downstream_gene_variant LUSC-US 1 118483498 118483498 single base substitution C T missense_variant P242S 724C>T LUSC-US 1 118483499 118483499 single base substitution C T 3_prime_UTR_variant LUSC-US 1 118483499 118483499 single base substitution C T downstream_gene_variant LUSC-US 1 118483499 118483499 single base substitution C T missense_variant P242L 725C>T LUSC-US 1 118491082 118491082 single base substitution G T missense_variant D493Y 1477G>T LUSC-US 1 118497236 118497236 single base substitution T A missense_variant Y799N 2395T>A LUSC-US 1 118506562 118506562 single base substitution G A 3_prime_UTR_variant MALY-DE 1 118467859 118467859 single base substitution T C upstream_gene_variant MALY-DE 1 118483305 118483305 single base substitution C T downstream_gene_variant MALY-DE 1 118483305 118483305 single base substitution C T intron_variant MALY-DE 1 118491790 118491790 single base substitution C T intron_variant MALY-DE 1 118492482 118492482 single base substitution C A intron_variant MALY-DE 1 118510823 118510823 insertion of <=200bp - T downstream_gene_variant MALY-DE 1 118512391 118512392 deletion of <=200bp TG - downstream_gene_variant MELA-AU 1 118467770 118467770 single base substitution A C upstream_gene_variant MELA-AU 1 118468126 118468126 single base substitution G A upstream_gene_variant MELA-AU 1 118468421 118468421 single base substitution G A upstream_gene_variant MELA-AU 1 118469030 118469030 single base substitution G A upstream_gene_variant MELA-AU 1 118470328 118470328 single base substitution G A upstream_gene_variant MELA-AU 1 118470951 118470951 single base substitution G A upstream_gene_variant MELA-AU 1 118471749 118471749 single base substitution G A upstream_gene_variant MELA-AU 1 118472233 118472233 single base substitution G A upstream_gene_variant MELA-AU 1 118472246 118472247 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 118472320 118472320 single base substitution C T upstream_gene_variant MELA-AU 1 118472326 118472326 single base substitution G A upstream_gene_variant MELA-AU 1 118472350 118472350 single base substitution G A 5_prime_UTR_variant MELA-AU 1 118472350 118472350 single base substitution G A exon_variant MELA-AU 1 118472350 118472350 single base substitution G A upstream_gene_variant MELA-AU 1 118472353 118472353 single base substitution G A 5_prime_UTR_variant MELA-AU 1 118472353 118472353 single base substitution G A exon_variant MELA-AU 1 118472353 118472353 single base substitution G A upstream_gene_variant MELA-AU 1 118472626 118472626 single base substitution C A intron_variant MELA-AU 1 118474283 118474283 single base substitution C T intron_variant MELA-AU 1 118475087 118475087 single base substitution C T intron_variant MELA-AU 1 118476188 118476189 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 1 118476676 118476676 single base substitution C T intron_variant MELA-AU 1 118476703 118476703 single base substitution C T intron_variant MELA-AU 1 118477320 118477320 single base substitution C T intron_variant MELA-AU 1 118477475 118477475 single base substitution C T intron_variant MELA-AU 1 118477931 118477931 single base substitution T C intron_variant MELA-AU 1 118479151 118479151 single base substitution C T intron_variant MELA-AU 1 118479534 118479534 single base substitution C T intron_variant MELA-AU 1 118480546 118480546 single base substitution A G intron_variant MELA-AU 1 118481258 118481258 single base substitution C T downstream_gene_variant MELA-AU 1 118481258 118481258 single base substitution C T intron_variant MELA-AU 1 118481407 118481407 deletion of <=200bp C - downstream_gene_variant MELA-AU 1 118481407 118481407 deletion of <=200bp C - intron_variant MELA-AU 1 118481868 118481868 single base substitution T C downstream_gene_variant MELA-AU 1 118481868 118481868 single base substitution T C intron_variant MELA-AU 1 118482147 118482147 single base substitution G A 3_prime_UTR_variant MELA-AU 1 118482147 118482147 single base substitution G A downstream_gene_variant MELA-AU 1 118482147 118482147 single base substitution G A synonymous_variant G209G 627G>A MELA-AU 1 118482451 118482451 single base substitution C T downstream_gene_variant MELA-AU 1 118482451 118482451 single base substitution C T intron_variant MELA-AU 1 118483351 118483351 single base substitution C T downstream_gene_variant MELA-AU 1 118483351 118483351 single base substitution C T intron_variant MELA-AU 1 118483402 118483402 single base substitution C T downstream_gene_variant MELA-AU 1 118483402 118483402 single base substitution C T intron_variant MELA-AU 1 118483576 118483576 single base substitution C T downstream_gene_variant MELA-AU 1 118483576 118483576 single base substitution C T intron_variant MELA-AU 1 118484339 118484339 single base substitution C T downstream_gene_variant MELA-AU 1 118484339 118484339 single base substitution C T intron_variant MELA-AU 1 118484643 118484643 single base substitution C T downstream_gene_variant MELA-AU 1 118484643 118484643 single base substitution C T intron_variant MELA-AU 1 118484660 118484660 single base substitution C T downstream_gene_variant MELA-AU 1 118484660 118484660 single base substitution C T intron_variant MELA-AU 1 118484710 118484716 deletion of <=200bp GGTTAAT - downstream_gene_variant MELA-AU 1 118484710 118484716 deletion of <=200bp GGTTAAT - intron_variant MELA-AU 1 118485052 118485052 single base substitution C T downstream_gene_variant MELA-AU 1 118485052 118485052 single base substitution C T splice_region_variant MELA-AU 1 118485394 118485394 single base substitution C T downstream_gene_variant MELA-AU 1 118485394 118485394 single base substitution C T intron_variant MELA-AU 1 118486314 118486314 single base substitution C T downstream_gene_variant MELA-AU 1 118486314 118486314 single base substitution C T intron_variant MELA-AU 1 118487094 118487094 single base substitution C T downstream_gene_variant MELA-AU 1 118487094 118487094 single base substitution C T intron_variant MELA-AU 1 118488691 118488691 single base substitution A T downstream_gene_variant MELA-AU 1 118488691 118488691 single base substitution A T intron_variant MELA-AU 1 118488823 118488823 single base substitution G A downstream_gene_variant MELA-AU 1 118488823 118488823 single base substitution G A intron_variant MELA-AU 1 118489360 118489360 single base substitution C T downstream_gene_variant MELA-AU 1 118489360 118489360 single base substitution C T intron_variant MELA-AU 1 118489382 118489382 single base substitution G A downstream_gene_variant MELA-AU 1 118489382 118489382 single base substitution G A intron_variant MELA-AU 1 118489871 118489871 single base substitution A G intron_variant MELA-AU 1 118490508 118490508 single base substitution T G intron_variant MELA-AU 1 118491677 118491677 single base substitution C T intron_variant MELA-AU 1 118491871 118491871 single base substitution C T intron_variant MELA-AU 1 118492063 118492063 single base substitution C T intron_variant MELA-AU 1 118492265 118492265 single base substitution T C intron_variant MELA-AU 1 118493712 118493712 single base substitution A G intron_variant MELA-AU 1 118493752 118493752 single base substitution C T intron_variant MELA-AU 1 118494727 118494727 single base substitution C T intron_variant MELA-AU 1 118495995 118495995 single base substitution C T intron_variant MELA-AU 1 118496143 118496143 single base substitution A G synonymous_variant K749K 2247A>G MELA-AU 1 118496191 118496191 single base substitution C T intron_variant MELA-AU 1 118496510 118496510 single base substitution C T intron_variant MELA-AU 1 118496536 118496536 single base substitution C T intron_variant MELA-AU 1 118496680 118496680 single base substitution A C missense_variant K773N 2319A>C MELA-AU 1 118497054 118497054 single base substitution G T intron_variant MELA-AU 1 118497172 118497172 single base substitution T A intron_variant MELA-AU 1 118497582 118497582 single base substitution C T intron_variant MELA-AU 1 118497988 118497988 single base substitution G A splice_region_variant MELA-AU 1 118498400 118498400 single base substitution C T intron_variant MELA-AU 1 118499036 118499036 single base substitution C T intron_variant MELA-AU 1 118499230 118499230 single base substitution G A intron_variant MELA-AU 1 118499295 118499295 single base substitution A T intron_variant MELA-AU 1 118499827 118499827 single base substitution C T splice_region_variant MELA-AU 1 118499947 118499947 single base substitution C T intron_variant MELA-AU 1 118500007 118500007 single base substitution C T intron_variant MELA-AU 1 118500590 118500590 single base substitution C T intron_variant MELA-AU 1 118500606 118500606 single base substitution C T intron_variant MELA-AU 1 118501233 118501233 single base substitution C T intron_variant MELA-AU 1 118501996 118501996 single base substitution G T missense_variant D920Y 2758G>T MELA-AU 1 118502109 118502109 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118502333 118502333 single base substitution G A 3_prime_UTR_variant MELA-AU 1 118502445 118502445 single base substitution G A 3_prime_UTR_variant MELA-AU 1 118502689 118502689 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118503096 118503096 single base substitution G A 3_prime_UTR_variant MELA-AU 1 118503600 118503600 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118504174 118504174 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118504655 118504655 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118504668 118504668 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118504948 118504948 single base substitution C A 3_prime_UTR_variant MELA-AU 1 118506017 118506017 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118506027 118506027 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118506082 118506082 single base substitution G T 3_prime_UTR_variant MELA-AU 1 118506727 118506727 single base substitution G A 3_prime_UTR_variant MELA-AU 1 118507138 118507138 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118507434 118507434 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118507717 118507717 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118507870 118507870 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118507880 118507880 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118508598 118508598 single base substitution C T 3_prime_UTR_variant MELA-AU 1 118508606 118508606 single base substitution A T 3_prime_UTR_variant MELA-AU 1 118509420 118509420 single base substitution C T downstream_gene_variant MELA-AU 1 118509977 118509977 single base substitution C T downstream_gene_variant MELA-AU 1 118509988 118509988 single base substitution C T downstream_gene_variant MELA-AU 1 118510364 118510364 single base substitution G A downstream_gene_variant MELA-AU 1 118510418 118510418 single base substitution T A downstream_gene_variant MELA-AU 1 118510974 118510974 single base substitution C T downstream_gene_variant MELA-AU 1 118510992 118510992 single base substitution T G downstream_gene_variant MELA-AU 1 118511772 118511772 single base substitution A G downstream_gene_variant MELA-AU 1 118511914 118511914 single base substitution G A downstream_gene_variant MELA-AU 1 118512243 118512243 single base substitution T A downstream_gene_variant MELA-AU 1 118513300 118513300 single base substitution G A downstream_gene_variant MELA-AU 1 118513674 118513674 single base substitution C T downstream_gene_variant MELA-AU 1 118513791 118513791 single base substitution G A downstream_gene_variant MELA-AU 1 118513871 118513871 single base substitution A G downstream_gene_variant OV-AU 1 118473813 118473813 single base substitution G A intron_variant OV-AU 1 118475011 118475011 single base substitution G C intron_variant OV-AU 1 118477919 118477919 single base substitution A G intron_variant OV-AU 1 118481704 118481704 single base substitution C T downstream_gene_variant OV-AU 1 118481704 118481704 single base substitution C T intron_variant OV-AU 1 118486001 118486001 single base substitution G T downstream_gene_variant OV-AU 1 118486001 118486001 single base substitution G T intron_variant OV-AU 1 118495301 118495301 single base substitution T C intron_variant OV-AU 1 118500872 118500872 single base substitution G A intron_variant OV-AU 1 118502229 118502229 single base substitution C A 3_prime_UTR_variant OV-AU 1 118503857 118503857 single base substitution G T 3_prime_UTR_variant OV-AU 1 118506186 118506186 single base substitution A T 3_prime_UTR_variant OV-AU 1 118510304 118510304 single base substitution G T downstream_gene_variant OV-AU 1 118511778 118511778 single base substitution T A downstream_gene_variant OV-US 1 118506476 118506476 single base substitution T C 3_prime_UTR_variant PACA-AU 1 118468683 118468683 single base substitution T C upstream_gene_variant PACA-AU 1 118470724 118470724 single base substitution C A upstream_gene_variant PACA-AU 1 118471074 118471074 single base substitution A G upstream_gene_variant PACA-AU 1 118471233 118471233 single base substitution G A upstream_gene_variant PACA-AU 1 118480936 118480936 single base substitution A T intron_variant PACA-AU 1 118493073 118493073 single base substitution G A intron_variant PACA-AU 1 118496823 118496823 single base substitution A T intron_variant PACA-AU 1 118498202 118498202 single base substitution A T intron_variant PACA-AU 1 118499868 118499868 single base substitution C T intron_variant PACA-AU 1 118502596 118502596 single base substitution C A 3_prime_UTR_variant PACA-AU 1 118506111 118506111 single base substitution A G 3_prime_UTR_variant PACA-AU 1 118510170 118510170 single base substitution C T downstream_gene_variant PACA-CA 1 118470895 118470895 single base substitution G A upstream_gene_variant PACA-CA 1 118479290 118479290 single base substitution A G intron_variant PACA-CA 1 118483259 118483259 single base substitution G C downstream_gene_variant PACA-CA 1 118483259 118483259 single base substitution G C intron_variant PACA-CA 1 118488648 118488648 single base substitution A G downstream_gene_variant PACA-CA 1 118488648 118488648 single base substitution A G intron_variant PACA-CA 1 118489340 118489340 single base substitution G A downstream_gene_variant PACA-CA 1 118489340 118489340 single base substitution G A intron_variant PACA-CA 1 118495006 118495006 single base substitution A G missense_variant K664R 1991A>G PACA-CA 1 118496961 118496961 single base substitution T G intron_variant PACA-CA 1 118501183 118501183 single base substitution T C intron_variant PACA-CA 1 118502003 118502003 single base substitution C T missense_variant T922I 2765C>T PACA-CA 1 118503666 118503690 deletion of <=200bp GGAGGCCGAGGCAGGCGGATCACAA - 3_prime_UTR_variant PACA-CA 1 118511662 118511662 single base substitution G T downstream_gene_variant PAEN-AU 1 118493776 118493776 single base substitution T C intron_variant PAEN-AU 1 118495441 118495441 single base substitution C G intron_variant PAEN-IT 1 118477462 118477462 single base substitution G T intron_variant PBCA-DE 1 118472719 118472719 single base substitution C T intron_variant PBCA-DE 1 118474773 118474773 deletion of <=200bp T - intron_variant PBCA-DE 1 118481279 118481279 single base substitution C A downstream_gene_variant PBCA-DE 1 118481279 118481279 single base substitution C A intron_variant PBCA-DE 1 118481478 118481478 single base substitution G A downstream_gene_variant PBCA-DE 1 118481478 118481478 single base substitution G A intron_variant PBCA-DE 1 118501384 118501384 single base substitution C T intron_variant PBCA-DE 1 118506334 118506334 single base substitution G T 3_prime_UTR_variant PBCA-DE 1 118506673 118506673 single base substitution T A 3_prime_UTR_variant PBCA-DE 1 118507733 118507733 single base substitution T A 3_prime_UTR_variant PBCA-DE 1 118509748 118509748 single base substitution C T downstream_gene_variant PRAD-CA 1 118511976 118511976 single base substitution G C downstream_gene_variant PRAD-UK 1 118475021 118475021 single base substitution C T intron_variant PRAD-UK 1 118492023 118492023 single base substitution A G intron_variant PRAD-UK 1 118492768 118492768 single base substitution C T intron_variant PRAD-UK 1 118503791 118503791 single base substitution A G 3_prime_UTR_variant PRAD-UK 1 118509353 118509355 deletion of <=200bp TTC - downstream_gene_variant PRAD-US 1 118479418 118479418 single base substitution G T 3_prime_UTR_variant PRAD-US 1 118479418 118479418 single base substitution G T exon_variant PRAD-US 1 118479418 118479418 single base substitution G T synonymous_variant V136V 408G>T RECA-EU 1 118482451 118482451 single base substitution C T downstream_gene_variant RECA-EU 1 118482451 118482451 single base substitution C T intron_variant RECA-EU 1 118497688 118497688 single base substitution T A intron_variant RECA-EU 1 118506732 118506732 single base substitution G A 3_prime_UTR_variant RECA-EU 1 118508758 118508758 single base substitution A T 3_prime_UTR_variant SKCA-BR 1 118467410 118467410 single base substitution G A upstream_gene_variant SKCA-BR 1 118471768 118471768 single base substitution T C upstream_gene_variant SKCA-BR 1 118475632 118475632 single base substitution A G intron_variant SKCA-BR 1 118479504 118479504 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 118479504 118479504 single base substitution T C exon_variant SKCA-BR 1 118479504 118479504 single base substitution T C missense_variant V165A 494T>C SKCA-BR 1 118480019 118480019 single base substitution C T intron_variant SKCA-BR 1 118481165 118481165 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 118481165 118481165 single base substitution T C downstream_gene_variant SKCA-BR 1 118481165 118481165 single base substitution T C exon_variant SKCA-BR 1 118481165 118481165 single base substitution T C missense_variant V188A 563T>C SKCA-BR 1 118483059 118483059 single base substitution C T downstream_gene_variant SKCA-BR 1 118483059 118483059 single base substitution C T intron_variant SKCA-BR 1 118483400 118483400 single base substitution C A downstream_gene_variant SKCA-BR 1 118483400 118483400 single base substitution C A intron_variant SKCA-BR 1 118486572 118486572 single base substitution T C downstream_gene_variant SKCA-BR 1 118486572 118486572 single base substitution T C intron_variant SKCA-BR 1 118488509 118488509 single base substitution G A downstream_gene_variant SKCA-BR 1 118488509 118488509 single base substitution G A intron_variant SKCA-BR 1 118490048 118490048 single base substitution G A intron_variant SKCA-BR 1 118490104 118490104 single base substitution T A intron_variant SKCA-BR 1 118490482 118490482 single base substitution T C intron_variant SKCA-BR 1 118491471 118491471 single base substitution G T intron_variant SKCA-BR 1 118491928 118491928 single base substitution A G intron_variant SKCA-BR 1 118501141 118501141 single base substitution A T intron_variant SKCA-BR 1 118501384 118501384 single base substitution C T intron_variant SKCA-BR 1 118501941 118501941 single base substitution T G synonymous_variant G901G 2703T>G SKCA-BR 1 118501993 118501993 single base substitution G T missense_variant A919S 2755G>T SKCA-BR 1 118506238 118506238 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 118509977 118509977 single base substitution C T downstream_gene_variant SKCA-BR 1 118510266 118510266 single base substitution T A downstream_gene_variant SKCM-US 1 118477254 118477254 single base substitution C T 3_prime_UTR_variant SKCM-US 1 118477254 118477254 single base substitution C T exon_variant SKCM-US 1 118477254 118477254 single base substitution C T synonymous_variant I110I 330C>T SKCM-US 1 118479464 118479464 single base substitution A T 3_prime_UTR_variant SKCM-US 1 118479464 118479464 single base substitution A T exon_variant SKCM-US 1 118479464 118479464 single base substitution A T missense_variant I152F 454A>T SKCM-US 1 118481118 118481118 single base substitution G T 3_prime_UTR_variant SKCM-US 1 118481118 118481118 single base substitution G T exon_variant SKCM-US 1 118481118 118481118 single base substitution G T missense_variant M172I 516G>T SKCM-US 1 118483757 118483757 single base substitution C T 3_prime_UTR_variant SKCM-US 1 118483757 118483757 single base substitution C T downstream_gene_variant SKCM-US 1 118483757 118483757 single base substitution C T missense_variant S267L 800C>T SKCM-US 1 118486082 118486082 single base substitution C T downstream_gene_variant SKCM-US 1 118486082 118486082 single base substitution C T synonymous_variant N387N 1161C>T SKCM-US 1 118486107 118486107 single base substitution C T downstream_gene_variant SKCM-US 1 118486107 118486107 single base substitution C T missense_variant P396S 1186C>T SKCM-US 1 118486133 118486133 single base substitution C T downstream_gene_variant SKCM-US 1 118486133 118486133 single base substitution C T synonymous_variant V404V 1212C>T SKCM-US 1 118494982 118494982 single base substitution A G missense_variant K656R 1967A>G SKCM-US 1 118494990 118494990 single base substitution C T stop_gained Q659* 1975C>T SKCM-US 1 118495284 118495284 single base substitution T C missense_variant M717T 2150T>C SKCM-US 1 118499763 118499763 single base substitution C T synonymous_variant F842F 2526C>T SKCM-US 1 118499811 118499811 single base substitution C T synonymous_variant F858F 2574C>T SKCM-US 1 118501574 118501574 single base substitution C G missense_variant P875R 2624C>G SKCM-US 1 118501935 118501935 single base substitution G A missense_variant M899I 2697G>A SKCM-US 1 118506531 118506531 single base substitution C T 3_prime_UTR_variant SKCM-US 1 118509305 118509305 single base substitution C T downstream_gene_variant STAD-US 1 118475968 118475968 single base substitution G A exon_variant STAD-US 1 118475968 118475968 single base substitution G A missense_variant R9H 26G>A STAD-US 1 118481113 118481113 single base substitution A G 3_prime_UTR_variant STAD-US 1 118481113 118481113 single base substitution A G exon_variant STAD-US 1 118481113 118481113 single base substitution A G missense_variant T171A 511A>G STAD-US 1 118483468 118483468 single base substitution C T 3_prime_UTR_variant STAD-US 1 118483468 118483468 single base substitution C T downstream_gene_variant STAD-US 1 118483468 118483468 single base substitution C T missense_variant P232S 694C>T STAD-US 1 118486176 118486176 single base substitution C T downstream_gene_variant STAD-US 1 118486176 118486176 single base substitution C T missense_variant R419W 1255C>T STAD-US 1 118488721 118488721 single base substitution G C downstream_gene_variant STAD-US 1 118488721 118488721 single base substitution G C missense_variant Q447H 1341G>C STAD-US 1 118492448 118492448 single base substitution T A missense_variant S533R 1599T>A STAD-US 1 118499758 118499758 single base substitution G A missense_variant E841K 2521G>A UCEC-US 1 118476052 118476052 single base substitution G A exon_variant UCEC-US 1 118476052 118476052 single base substitution G A intron_variant UCEC-US 1 118476052 118476052 single base substitution G A missense_variant R37H 110G>A UCEC-US 1 118476076 118476076 single base substitution A G exon_variant UCEC-US 1 118476076 118476076 single base substitution A G intron_variant UCEC-US 1 118476076 118476076 single base substitution A G missense_variant E45G 134A>G UCEC-US 1 118477158 118477158 single base substitution A C 3_prime_UTR_variant UCEC-US 1 118477158 118477158 single base substitution A C exon_variant UCEC-US 1 118477158 118477158 single base substitution A C synonymous_variant L78L 234A>C UCEC-US 1 118477191 118477191 single base substitution C T 3_prime_UTR_variant UCEC-US 1 118477191 118477191 single base substitution C T exon_variant UCEC-US 1 118477191 118477191 single base substitution C T synonymous_variant I89I 267C>T UCEC-US 1 118481174 118481174 single base substitution G A 3_prime_UTR_variant UCEC-US 1 118481174 118481174 single base substitution G A downstream_gene_variant UCEC-US 1 118481174 118481174 single base substitution G A exon_variant UCEC-US 1 118481174 118481174 single base substitution G A missense_variant R191Q 572G>A UCEC-US 1 118482099 118482099 single base substitution G T downstream_gene_variant UCEC-US 1 118482099 118482099 single base substitution G T splice_acceptor_variant UCEC-US 1 118482167 118482167 single base substitution G T 3_prime_UTR_variant UCEC-US 1 118482167 118482167 single base substitution G T downstream_gene_variant UCEC-US 1 118482167 118482167 single base substitution G T missense_variant R216M 647G>T UCEC-US 1 118486165 118486165 single base substitution G A downstream_gene_variant UCEC-US 1 118486165 118486165 single base substitution G A missense_variant R415H 1244G>A UCEC-US 1 118492693 118492693 single base substitution G A synonymous_variant K562K 1686G>A UCEC-US 1 118492750 118492750 single base substitution A G synonymous_variant L581L 1743A>G UCEC-US 1 118494926 118494926 single base substitution G A missense_variant M637I 1911G>A UCEC-US 1 118495253 118495253 single base substitution G A missense_variant E707K 2119G>A UCEC-US 1 118495575 118495575 single base substitution G T stop_gained E720* 2158G>T UCEC-US 1 118496162 118496162 single base substitution G T missense_variant A756S 2266G>T UCEC-US 1 118497226 118497226 single base substitution C G missense_variant I795M 2385C>G UCEC-US 1 118502037 118502037 single base substitution A C missense_variant K933N 2799A>C UCEC-US 1 118502046 118502046 single base substitution G A synonymous_variant E936E 2808G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D9-A6EC-06 COSM4402612 c.1967A>G p.K656R Substitution - Missense 1:117952359-117952359 + sysucc-311T COSM5477523 c.2362-8C>A p.? Unknown 1:117954572-117954572 + RK224_C01 COSM4943687 c.2430G>A p.E810E Substitution - coding silent 1:117955335-117955335 + TCGA-AX-A060-01 COSM894557 c.2808G>A p.E936E Substitution - coding silent 1:117959423-117959423 + SC_9076 COSM5559499 c.1194G>A p.L398L Substitution - coding silent 1:117943492-117943492 + RKO COSM4647292 c.758G>A p.G253D Substitution - Missense 1:117940909-117940909 + S00936 COSM316524 c.2288C>T p.A763V Substitution - Missense 1:117954026-117954026 + CHC2098T COSM4788197 c.1776G>T p.L592L Substitution - coding silent 1:117950863-117950863 + PD13424a COSM5801701 c.505delA p.D170fs*4 Deletion - Frameshift 1:117938484-117938484 + TCGA-AP-A056-01 COSM894540 c.110G>A p.R37H Substitution - Missense 1:117933429-117933429 + TCGA-EE-A2GE-06 COSM3472018 c.2697G>A p.M899I Substitution - Missense 1:117959312-117959312 + TCGA-BG-A0LX-01 COSM894546 c.580-1G>T p.? Unknown 1:117939476-117939476 + ccRCC-59 COSM1664990 c.242C>G p.A81G Substitution - Missense 1:117934543-117934543 + S00936 COSM316523 c.1069A>G p.T357A Substitution - Missense 1:117942516-117942516 + 1N25-VS-1T25 COSM4973325 c.1108T>G p.L370V Substitution - Missense 1:117943406-117943406 + TCGA-AP-A051-01 COSM894547 c.647G>T p.R216M Substitution - Missense 1:117939544-117939544 + S01542 COSM5669427 c.2747T>C p.M916T Substitution - Missense 1:117959362-117959362 + TCGA-AX-A0J1-01 COSM894551 c.1911G>A p.M637I Substitution - Missense 1:117952303-117952303 + TCGA-AA-A01D-01 COSM299809 c.1369G>T p.A457S Substitution - Missense 1:117946126-117946126 + TCGA-EE-A2MJ-06 COSM2179144 c.2526C>T p.F842F Substitution - coding silent 1:117957140-117957140 + TCGA-A5-A0GH-01 COSM894548 c.1244G>A p.R415H Substitution - Missense 1:117943542-117943542 + TCGA-KK-A6E8-01 COSM4879129 c.408G>T p.V136V Substitution - coding silent 1:117936795-117936795 + TCGA-B5-A11E-01 COSM894552 c.2119G>A p.E707K Substitution - Missense 1:117952630-117952630 + TCGA-B5-A11E-01 COSM894549 c.1686G>A p.K562K Substitution - coding silent 1:117950070-117950070 + 3N44-VS-3T44 COSM4982132 c.1295C>G p.S432* Substitution - Nonsense 1:117943593-117943593 + 139 COSM98362 c.1367A>T p.Y456F Substitution - Missense 1:117946124-117946124 + AD88 COSM5966946 c.1301C>T p.A434V Substitution - Missense 1:117943599-117943599 + TCGA-DR-A0ZM-01 COSM458672 c.645G>A p.L215L Substitution - coding silent 1:117939542-117939542 + TCGA-AP-A0LM-01 COSM894548 c.1244G>A p.R415H Substitution - Missense 1:117943542-117943542 + HCC2998 COSM1667870 c.910G>T p.E304* Substitution - Nonsense 1:117941768-117941768 + LP6005334-DNA_B02 COSM5037179 c.924C>G p.I308M Substitution - Missense 1:117941782-117941782 + RK216_C01 COSM3740573 c.152A>G p.D51G Substitution - Missense 1:117933471-117933471 + HDC90 COSM2179078 c.25C>T p.R9C Substitution - Missense 1:117933344-117933344 + PTC-77C COSM4142237 c.2703T>G p.G901G Substitution - coding silent 1:117959318-117959318 + YUKSI COSM5377363 c.2454T>G p.S818R Substitution - Missense 1:117957068-117957068 + T144 COSM307591 c.2237C>A p.T746N Substitution - Missense 1:117953510-117953510 + TCGA-BS-A0TA-01 COSM894541 c.134A>G p.E45G Substitution - Missense 1:117933453-117933453 + TCGA-CK-4947-01 COSM1333156 c.1291C>G p.L431V Substitution - Missense 1:117943589-117943589 + CHC433T COSM216946 c.1611-2A>T p.? Unknown 1:117949993-117949993 + TCGA-A7-A13E-01 COSM1127454 c.2765C>T p.T922I Substitution - Missense 1:117959380-117959380 + sysucc-1397T COSM5473112 c.375G>A p.G125G Substitution - coding silent 1:117934676-117934676 + TCGA-FD-A3B6-01 COSM1294795 c.2262G>A p.V754V Substitution - coding silent 1:117953535-117953535 + HCT-15 COSM1667871 c.2270C>A p.A757D Substitution - Missense 1:117954008-117954008 + CSCC-31-T COSM4461079 c.1191C>T p.S397S Substitution - coding silent 1:117943489-117943489 + TCGA-BS-A0UV-01 COSM894556 c.2799A>C p.K933N Substitution - Missense 1:117959414-117959414 + TCGA-AA-A00N-01 COSM278120 c.826C>T p.R276W Substitution - Missense 1:117941160-117941160 + TCGA-29-1691-01 COSM1320090 c.955G>A p.D319N Substitution - Missense 1:117941813-117941813 + SNUH_G16_S1 COSM3996773 c.700C>T p.P234S Substitution - Missense 1:117940851-117940851 + S02322 COSM5691066 c.2234T>G p.F745C Substitution - Missense 1:117953507-117953507 + TCGA-ER-A42K-06 COSM4894911 c.454A>T p.I152F Substitution - Missense 1:117936841-117936841 + TCGA-EK-A2RD-01 COSM4820150 c.1172T>C p.L391S Substitution - Missense 1:117943470-117943470 + TCGA-BR-6452-01 COSM4021152 c.694C>T p.P232S Substitution - Missense 1:117940845-117940845 + TCGA-BF-A3DN-01 COSM4898982 c.2150T>C p.M717T Substitution - Missense 1:117952661-117952661 + TCGA-DK-A1AA-01 COSM1294793 c.72T>G p.G24G Substitution - coding silent 1:117933391-117933391 + RK225_C01 COSM4780296 c.2361+4A>G p.? Unknown 1:117954103-117954103 + 022T COSM1727997 c.1729T>G p.Y577D Substitution - Missense 1:117950113-117950113 + TCGA-A8-A09Z-01 COSM3801431 c.669G>A p.L223L Substitution - coding silent 1:117939566-117939566 + TCGA-34-5232-01 COSM675088 c.2395T>A p.Y799N Substitution - Missense 1:117954613-117954613 + TCGA-CD-A4MG-01 COSM4021149 c.26G>A p.R9H Substitution - Missense 1:117933345-117933345 + HCT-15 COSM1683307 c.2702_2703insG p.L902fs*2 Insertion - Frameshift 1:117959317-117959318 + SW1417 COSM2179078 c.25C>T p.R9C Substitution - Missense 1:117933344-117933344 + LUAD-B00416 COSM331085 c.2243A>T p.K748M Substitution - Missense 1:117953516-117953516 + TCGA-AP-A0LM-01 COSM894550 c.1743A>G p.L581L Substitution - coding silent 1:117950127-117950127 + TCGA-B5-A0JY-01 COSM894554 c.2266G>T p.A756S Substitution - Missense 1:117953539-117953539 + 49M COSM5593967 c.618C>T p.L206L Substitution - coding silent 1:117939515-117939515 + Pat_50_A COSM5843212 c.2476G>T p.V826L Substitution - Missense 1:117957090-117957090 + TCGA-EE-A2GR-06 COSM3472015 c.1975C>T p.Q659* Substitution - Nonsense 1:117952367-117952367 + TCGA-BT-A3PJ-01 COSM3788500 c.1810G>A p.A604T Substitution - Missense 1:117951982-117951982 + PTC-46C COSM4142237 c.2703T>G p.G901G Substitution - coding silent 1:117959318-117959318 + TCGA-66-2786-01 COSM675091 c.1477G>T p.D493Y Substitution - Missense 1:117948459-117948459 + TCGA-G2-A2ES-01 COSM1294794 c.1198A>G p.T400A Substitution - Missense 1:117943496-117943496 + TCGA-AA-3966-01 COSM273470 c.687G>A p.P229P Substitution - coding silent 1:117940838-117940838 + TCGA-HU-A4G9-01 COSM4021154 c.1341G>C p.Q447H Substitution - Missense 1:117946098-117946098 + TCGA-AA-3692-01 COSM268284 c.476G>A p.R159Q Substitution - Missense 1:117936863-117936863 + TCGA-ER-A19P-06 COSM3472017 c.2624C>G p.P875R Substitution - Missense 1:117958951-117958951 + SC_9097 COSM5568864 c.2453G>C p.S818T Substitution - Missense 1:117955358-117955358 + TCGA-ER-A194-01 COSM3472013 c.1186C>T p.P396S Substitution - Missense 1:117943484-117943484 + Gp5D COSM2179122 c.1374T>C p.L458L Substitution - coding silent 1:117946131-117946131 + SNUH_G16_S1 COSM3996774 c.2019T>G p.G673G Substitution - coding silent 1:117952530-117952530 + C125 COSM4616691 c.1136A>T p.K379M Substitution - Missense 1:117943434-117943434 + 1360-01-01TD COSM5417012 c.1831G>T p.A611S Substitution - Missense 1:117952003-117952003 + TCGA-AZ-4315-01 COSM1333157 c.1507T>C p.S503P Substitution - Missense 1:117948489-117948489 + PDA_015 COSM3747505 c.629C>T p.A210V Substitution - Missense 1:117939526-117939526 + ESCC_55 COSM5631648 c.1269C>G p.F423L Substitution - Missense 1:117943567-117943567 + TCGA-BR-6452-01 COSM4021153 c.1255C>T p.R419W Substitution - Missense 1:117943553-117943553 + LUAD-S01409 COSM346532 c.1693G>T p.A565S Substitution - Missense 1:117950077-117950077 + TCGA-B6-A0X4-01 COSM423582 c.1462C>A p.L488M Substitution - Missense 1:117948444-117948444 + TCGA-FD-A3SN-01 COSM3788501 c.2793G>C p.K931N Substitution - Missense 1:117959408-117959408 + SC_9083 COSM5561941 c.702C>G p.P234P Substitution - coding silent 1:117940853-117940853 + TCGA-CK-5916-01 COSM1333155 c.1213A>G p.R405G Substitution - Missense 1:117943511-117943511 + CHC205T COSM3747505 c.629C>T p.A210V Substitution - Missense 1:117939526-117939526 + TCGA-AN-A0XW-01 COSM423581 c.1045C>G p.L349V Substitution - Missense 1:117942492-117942492 + 18 COSM5744680 c.2450C>T p.S817L Substitution - Missense 1:117955355-117955355 + C086 COSM5541708 c.2470C>T p.L824L Substitution - coding silent 1:117957084-117957084 + P141 COSM1736973 c.263C>G p.S88W Substitution - Missense 1:117934564-117934564 + PCSI_0020_Pa_X COSM3375608 c.1991A>G p.K664R Substitution - Missense 1:117952383-117952383 + TCGA-DR-A0ZM-01 COSM458671 c.1428G>A p.G476G Substitution - coding silent 1:117948410-117948410 + PCSI_0083_Pa_X COSM1127454 c.2765C>T p.T922I Substitution - Missense 1:117959380-117959380 + TCGA-EE-A2MR-06 COSM3472009 c.330C>T p.I110I Substitution - coding silent 1:117934631-117934631 + TCGA-BH-A0B6-01 COSM3801432 c.1681C>G p.Q561E Substitution - Missense 1:117950065-117950065 + 587226 COSM1232571 c.845T>C p.V282A Substitution - Missense 1:117941179-117941179 + CHEWS030 COSM4576165 c.2626G>A p.V876M Substitution - Missense 1:117958953-117958953 + PTC-14C COSM4142237 c.2703T>G p.G901G Substitution - coding silent 1:117959318-117959318 + HCC2998 COSM1667870 c.910G>T p.E304* Substitution - Nonsense 1:117941768-117941768 + CHC2098T COSM4788197 c.1776G>T p.L592L Substitution - coding silent 1:117950863-117950863 + TCGA-B5-A0JV-01 COSM894544 c.475C>T p.R159* Substitution - Nonsense 1:117936862-117936862 + SNUH_G73_S1 COSM423583 c.1830C>T p.S610S Substitution - coding silent 1:117952002-117952002 + CHC1629T COSM5347291 c.5_6delGG p.G2fs*11 Deletion - Frameshift 1:117933324-117933325 + HT115 COSM2179114 c.962A>C p.K321T Substitution - Missense 1:117941820-117941820 + TCGA-BS-A0UF-01 COSM894553 c.2158G>T p.E720* Substitution - Nonsense 1:117952952-117952952 + HCC058T COSM5804569 c.1413A>T p.I471I Substitution - coding silent 1:117946170-117946170 + TCGA-EE-A29B-06 COSM3472011 c.800C>T p.S267L Substitution - Missense 1:117941134-117941134 + TCGA-18-3409-01 COSM675092 c.725C>T p.P242L Substitution - Missense 1:117940876-117940876 + TCGA-AZ-4315-01 COSM1333158 c.1588G>T p.D530Y Substitution - Missense 1:117949814-117949814 + BD121T COSM5514782 c.94C>T p.R32C Substitution - Missense 1:117933413-117933413 + TCGA-AA-3510-01 COSM1333159 c.2303G>A p.R768Q Substitution - Missense 1:117954041-117954041 + 476 COSM4438425 c.1449G>C p.L483F Substitution - Missense 1:117948431-117948431 + HCC172 COSM3704877 c.1240C>T p.H414Y Substitution - Missense 1:117943538-117943538 + TCGA-AX-A0J1-01 COSM894543 c.267C>T p.I89I Substitution - coding silent 1:117934568-117934568 + 3N38-VS-3T38 COSM1333159 c.2303G>A p.R768Q Substitution - Missense 1:117954041-117954041 + pfg008T COSM1639468 c.2176A>T p.S726C Substitution - Missense 1:117952970-117952970 + TCGA-B5-A11E-01 COSM894545 c.572G>A p.R191Q Substitution - Missense 1:117938551-117938551 + TCGA-EB-A3Y7-01 COSM3472014 c.1212C>T p.V404V Substitution - coding silent 1:117943510-117943510 + PTC-6C COSM4142237 c.2703T>G p.G901G Substitution - coding silent 1:117959318-117959318 + Case5 COSM1579409 c.2236A>G p.T746A Substitution - Missense 1:117953509-117953509 + REC-1 COSM1738567 c.2117G>A p.R706K Substitution - Missense 1:117952628-117952628 + HT55 COSM2179131 c.1801C>T p.H601Y Substitution - Missense 1:117950888-117950888 + TCGA-AP-A056-01 COSM894542 c.234A>C p.L78L Substitution - coding silent 1:117934535-117934535 + 30996 COSM5043529 c.263C>A p.S88* Substitution - Nonsense 1:117934564-117934564 + TCGA-FR-A3R1-01 COSM3472012 c.1161C>T p.N387N Substitution - coding silent 1:117943459-117943459 + TCGA-EE-A181-06 COSM3472010 c.516G>T p.M172I Substitution - Missense 1:117938495-117938495 + TCGA-BR-8487-01 COSM4021151 c.511A>G p.T171A Substitution - Missense 1:117938490-117938490 + TCGA-BR-8368-01 COSM202186 c.2521G>A p.E841K Substitution - Missense 1:117957135-117957135 + RK288_C01 COSM4780514 c.1638G>T p.L546F Substitution - Missense 1:117950022-117950022 + LUAD-RT-S01777 COSM381732 c.892-1G>T p.? Unknown 1:117941749-117941749 + TCGA-F4-6570-01 COSM1333160 c.2727C>T p.C909C Substitution - coding silent 1:117959342-117959342 + HCC63T COSM1600625 c.218C>A p.P73H Substitution - Missense 1:117934519-117934519 + WSU-HN12 COSM4601090 c.1739C>A p.T580N Substitution - Missense 1:117950123-117950123 + YUDIVI COSM5377362 c.1517C>T p.P506L Substitution - Missense 1:117948499-117948499 + TCGA-CH-5746-01 COSM1127454 c.2765C>T p.T922I Substitution - Missense 1:117959380-117959380 + TCGA-DB-5276-01 COSM278120 c.826C>T p.R276W Substitution - Missense 1:117941160-117941160 + CHC433T COSM216946 c.1611-2A>T p.? Unknown 1:117949993-117949993 + TCGA-AX-A1C8-01 COSM894555 c.2385C>G p.I795M Substitution - Missense 1:117954603-117954603 + HCC63 COSM1600625 c.218C>A p.P73H Substitution - Missense 1:117934519-117934519 + TCGA-D3-A2JL-06 COSM3472016 c.2574C>T p.F858F Substitution - coding silent 1:117957188-117957188 + TCGA-B2-5641-01 COSM462715 c.1587A>G p.K529K Substitution - coding silent 1:117949813-117949813 + TCGA-FD-A3B6-01 COSM1294796 c.2326G>A p.E776K Substitution - Missense 1:117954064-117954064 + TCGA-CJ-5683-01 COSM462714 c.770C>T p.T257M Substitution - Missense 1:117940921-117940921 + TCGA-IR-A3LA-01 COSM4844647 c.842G>C p.R281T Substitution - Missense 1:117941176-117941176 + 7 COSM2179150 c.2647A>G p.T883A Substitution - Missense 1:117958974-117958974 + TCGA-AA-A00N-01 COSM278119 c.371C>T p.S124F Substitution - Missense 1:117934672-117934672 + CSCC-29-T COSM4556869 c.705G>A p.K235K Substitution - coding silent 1:117940856-117940856 + TCGA-18-3409-01 COSM675094 c.724C>T p.P242S Substitution - Missense 1:117940875-117940875 + CHEWS018 COSM4576164 c.2582+1G>A p.? Unknown 1:117957197-117957197 + PTC-70C COSM4142237 c.2703T>G p.G901G Substitution - coding silent 1:117959318-117959318 + LUAD-RT-S01487 COSM377806 c.166G>T p.E56* Substitution - Nonsense 1:117933485-117933485 + HCC172T COSM3704877 c.1240C>T p.H414Y Substitution - Missense 1:117943538-117943538 + 49M COSM5593966 c.1742T>C p.L581S Substitution - Missense 1:117950126-117950126 + TARGET-30-PARMLF COSM1288936 c.2183C>T p.A728V Substitution - Missense 1:117952977-117952977 + TCGA-BR-7851-01 COSM4021155 c.1599T>A p.S533R Substitution - Missense 1:117949825-117949825 + STC252 COSM2179101 c.571C>T p.R191W Substitution - Missense 1:117938550-117938550 + WA56 COSM238431 c.1359C>G p.T453T Substitution - coding silent 1:117946116-117946116 + TCGA-BS-A0UA-01 COSM894548 c.1244G>A p.R415H Substitution - Missense 1:117943542-117943542 + 102T COSM1237975 c.1963C>A p.H655N Substitution - Missense 1:117952355-117952355 + SC_9076 COSM5559500 c.1193T>C p.L398S Substitution - Missense 1:117943491-117943491 + TCGA-AA-A010-01 COSM202186 c.2521G>A p.E841K Substitution - Missense 1:117957135-117957135 + TCGA-A4-7997-01 COSM3984138 c.2786A>G p.K929R Substitution - Missense 1:117959401-117959401 + CHC433T COSM216946 c.1611-2A>T p.? Unknown 1:117949993-117949993 + CSCC-31-T COSM4452557 c.1959A>G p.K653K Substitution - coding silent 1:117952351-117952351 + YUWAND COSM1685499 c.2640delA p.R881fs*58 Deletion - Frameshift 1:117958967-117958967 + 139 COSM98362 c.1367A>T p.Y456F Substitution - Missense 1:117946124-117946124 + TCGA-BP-4164-01 COSM1134669 c.507A>G p.K169K Substitution - coding silent 1:117938486-117938486 + TCGA-A8-A095-01 COSM423584 c.2075C>T p.S692L Substitution - Missense 1:117952586-117952586 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.310705;Hs.310740;Hs.310781;Hs.310809 1p12 604737

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.E787Gfs*10 c.2360delA 1 118496721 MM A G Missense p.E45G c.134A>G 1 118476076 UCEC A G Missense p.E703G c.2108A>G 1 118495242 HNSC A G Missense p.K316E c.946A>G 1 118484427 LUAD A G Missense p.T357A c.1069A>G 1 118485139 SCLC A T Missense p.K146M c.437A>T 1 118479447 LUAD A T Missense p.S726C c.2176A>T 1 118495593 STAD A T Missense p.Y807F c.2420A>T 1 118497948 HNSC A T SpliceAcceptorSNV . c.1611-2A>T 1 118492616 HC C A Missense p.L488M c.1462C>A 1 118491067 BRCA C A Missense p.L548I c.1642C>A 1 118492649 LUAD C G Missense p.I795M c.2385C>G 1 118497226 UCEC C G Missense p.L294V c.880C>G 1 118483837 HNSC C G Missense p.L349V c.1045C>G 1 118485115 BRCA C G Missense p.P875R c.2624C>G 1 118501574 CM C G Missense p.R191G c.571C>G 1 118481173 CM C T IntronicSNV . c.580-398C>T 1 118481702 CLL C T IntronicSNV . c.676-99C>T 1 118483351 CM C T Missense p.A728V c.2183C>T 1 118495600 NB C T Missense p.A763V c.2288C>T 1 118496649 SCLC C T Missense p.P396S c.1186C>T 1 118486107 CM C T Missense p.P643S c.1927C>T 1 118494942 LUAD C T Missense p.R276W c.826C>T 1 118483783 LGG C T Missense p.R32C c.94C>T 1 118476036 CM C T Missense p.S267L c.800C>T 1 118483757 CM C T Missense p.S692L c.2075C>T 1 118495209 BRCA C T Missense p.S886L c.2657C>T 1 118501607 COREAD C T Nonsense p.Q659* c.1975C>T 1 118494990 CM C T Synonymous p.C72C c.216C>T 1 118477140 LUAD C T Synonymous p.D624D c.1872C>T 1 118494667 CM C T Synonymous p.I353I c.1059C>T 1 118485129 CM G A Missense p.A604T c.1810G>A 1 118494605 BLCA G A Missense p.D170N c.508G>A 1 118481110 HNSC G A Missense p.E256K c.766G>A 1 118483540 CM G A Missense p.E776K c.2326G>A 1 118496687 BLCA G A Missense p.M172I c.516G>A 1 118481118 CM G A Missense p.M899I c.2697G>A 1 118501935 CM G A Missense p.R159Q c.476G>A 1 118479486 COREAD G A Synonymous p.V754V c.2262G>A 1 118496158 BLCA G T Missense p.A457S c.1369G>T 1 118488749 COREAD G T Missense p.D493Y c.1477G>T 1 118491082 LUSC G T Missense p.M172I c.516G>T 1 118481118 CM G T Missense p.R861S c.2583G>T 1 118501533 LUAD G T Missense p.W195C c.585G>T 1 118482105 LUAD G T Missense p.W618L c.1853G>T 1 118494648 STAD G T SpliceAcceptorSNV . c.580-1G>T 1 118482099 UCEC G T Synonymous p.V136V c.408G>T 1 118479418 PRAD T A 5-UTRSNV . c.1-7T>A 1 118475936 RCCC T A Missense p.Y799N c.2395T>A 1 118497236 LUSC T C Missense p.M717T c.2150T>C 1 118495284 CM T G Synonymous p.G24G c.72T>G 1 118476014 BLCA