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 2 86832071 86832071 + Nonsense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr2:86832071G>C c.953C>G c.(952-954)tCa>tGa p.S318* BLCA 2 86832096 86832096 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr2:86832096G>A c.928C>T c.(928-930)Cag>Tag p.Q310* BLCA 2 86832387 86832387 + Missense_Mutation SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr2:86832387G>A c.637C>T c.(637-639)Cgg>Tgg p.R213W BLCA 2 86832395 86832395 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr2:86832395G>A c.629C>T c.(628-630)gCa>gTa p.A210V BLCA 2 86832432 86832432 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr2:86832432C>T c.592G>A c.(592-594)Gaa>Aaa p.E198K BRCA 2 86831014 86831014 + Missense_Mutation SNP C C G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr2:86831014C>G c.2010G>C c.(2008-2010)aaG>aaC p.K670N BRCA 2 86831287 86831287 + Silent SNP G G A TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 g.chr2:86831287G>A c.1737C>T c.(1735-1737)gcC>gcT p.A579A BRCA 2 86831694 86831694 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr2:86831694T>C c.1330A>G c.(1330-1332)Aat>Gat p.N444D BRCA 2 86832076 86832076 + Silent SNP C C T TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 g.chr2:86832076C>T c.948G>A c.(946-948)ttG>ttA p.L316L BRCA 2 86832518 86832518 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:86832518A>C c.506T>G c.(505-507)gTc>gGc p.V169G BRCA 2 86847539 86847539 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:86847539C>T c.280G>A c.(280-282)Gaa>Aaa p.E94K CESC 2 86831217 86831217 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr2:86831217C>G c.1807G>C c.(1807-1809)Gat>Cat p.D603H CESC 2 86831408 86831408 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:86831408G>A c.1616C>T c.(1615-1617)tCg>tTg p.S539L CHOL 2 86831421 86831421 + Missense_Mutation SNP T T C TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr2:86831421T>C c.1603A>G c.(1603-1605)Act>Gct p.T535A CHOL 2 86831626 86831626 + Silent SNP G G T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr2:86831626G>T c.1398C>A c.(1396-1398)ctC>ctA p.L466L COAD 2 86831408 86831408 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:86831408G>A c.1616C>T c.(1615-1617)tCg>tTg p.S539L COAD 2 86832099 86832099 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:86832099G>A c.925C>T c.(925-927)Ctt>Ttt p.L309F COAD 2 86832111 86832111 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:86832111C>T c.913G>A c.(913-915)Gaa>Aaa p.E305K COAD 2 86832111 86832111 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:86832111C>T c.913G>A c.(913-915)Gaa>Aaa p.E305K COAD 2 86832415 86832415 + Frame_Shift_Del DEL A A - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:86832415delA c.609delT c.(607-609)tttfs p.F203fs COAD 2 86832460 86832460 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:86832460C>T c.564G>A c.(562-564)atG>atA p.M188I COAD 2 86847539 86847539 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:86847539C>T c.280G>A c.(280-282)Gaa>Aaa p.E94K COAD 2 86847539 86847539 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:86847539C>T c.280G>A c.(280-282)Gaa>Aaa p.E94K COADREAD 2 86831408 86831408 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:86831408G>A c.1616C>T c.(1615-1617)tCg>tTg p.S539L COADREAD 2 86831930 86831930 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:86831930G>T c.1094C>A c.(1093-1095)tCt>tAt p.S365Y COADREAD 2 86832099 86832099 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:86832099G>A c.925C>T c.(925-927)Ctt>Ttt p.L309F COADREAD 2 86832111 86832111 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:86832111C>T c.913G>A c.(913-915)Gaa>Aaa p.E305K COADREAD 2 86832111 86832111 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:86832111C>T c.913G>A c.(913-915)Gaa>Aaa p.E305K COADREAD 2 86832415 86832415 + Frame_Shift_Del DEL A A - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr2:86832415delA c.609delT c.(607-609)tttfs p.F203fs COADREAD 2 86832460 86832460 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:86832460C>T c.564G>A c.(562-564)atG>atA p.M188I COADREAD 2 86847522 86847522 + Silent SNP G G A TCGA-AG-3593-01A-01W-0831-10 TCGA-AG-3593-10A-01W-0831-10 g.chr2:86847522G>A c.297C>T c.(295-297)acC>acT p.T99T COADREAD 2 86847539 86847539 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:86847539C>T c.280G>A c.(280-282)Gaa>Aaa p.E94K COADREAD 2 86847539 86847539 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:86847539C>T c.280G>A c.(280-282)Gaa>Aaa p.E94K COADREAD 2 86849812 86849814 + In_Frame_Del DEL CTT CTT - TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:86849812_86849814delCTT c.196_198delAAG c.(196-198)aagdel p.K66del ESCA 2 86831886 86831886 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr2:86831886G>T c.1138C>A c.(1138-1140)Cta>Ata p.L380I ESCA 2 86831974 86831975 + Frame_Shift_Ins INS - - A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr2:86831974_86831975insA c.1049_1050insT c.(1048-1050)atafs p.I350fs ESCA 2 86832517 86832517 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr2:86832517G>A c.507C>T c.(505-507)gtC>gtT p.V169V ESCA 2 86847539 86847539 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 g.chr2:86847539C>T c.280G>A c.(280-282)Gaa>Aaa p.E94K GBMLGG 2 86831209 86831209 + Silent SNP T T C TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 g.chr2:86831209T>C c.1815A>G c.(1813-1815)gaA>gaG p.E605E GBMLGG 2 86831482 86831482 + Missense_Mutation SNP C C A TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr2:86831482C>A c.1542G>T c.(1540-1542)atG>atT p.M514I GBMLGG 2 86831491 86831491 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:86831491G>A c.1533C>T c.(1531-1533)aaC>aaT p.N511N GBMLGG 2 86831619 86831619 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr2:86831619G>A c.1405C>T c.(1405-1407)Ccg>Tcg p.P469S GBMLGG 2 86839366 86839366 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr2:86839366C>T c.398G>A c.(397-399)gGc>gAc p.G133D HNSC 2 86831161 86831161 + Missense_Mutation SNP A A C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 g.chr2:86831161A>C c.1863T>G c.(1861-1863)tgT>tgG p.C621W HNSC 2 86831499 86831499 + Missense_Mutation SNP T T C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 g.chr2:86831499T>C c.1525A>G c.(1525-1527)Att>Gtt p.I509V HNSC 2 86832164 86832164 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr2:86832164G>C c.860C>G c.(859-861)tCa>tGa p.S287* HNSC 2 86832193 86832193 + Missense_Mutation SNP C C G TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr2:86832193C>G c.831G>C c.(829-831)atG>atC p.M277I HNSC 2 86832363 86832363 + Missense_Mutation SNP C C G TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr2:86832363C>G c.661G>C c.(661-663)Gaa>Caa p.E221Q KICH 2 86831681 86831681 + Missense_Mutation SNP T T A TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr2:86831681T>A c.1343A>T c.(1342-1344)aAt>aTt p.N448I KIPAN 2 86831681 86831681 + Missense_Mutation SNP T T A TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr2:86831681T>A c.1343A>T c.(1342-1344)aAt>aTt p.N448I KIPAN 2 86831681 86831681 + Missense_Mutation SNP T T A TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr2:86831681T>A c.1343A>T c.(1342-1344)aAt>aTt p.N448I KIPAN 2 86832185 86832185 + Missense_Mutation SNP A A G TCGA-KV-A6GD-01A-11D-A31X-10 TCGA-KV-A6GD-10A-01D-A31X-10 g.chr2:86832185A>G c.839T>C c.(838-840)aTt>aCt p.I280T KIPAN 2 86839326 86839326 + Frame_Shift_Del DEL T T - TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr2:86839326delT c.438delA c.(436-438)agafs p.R146fs KIRC 2 86831681 86831681 + Missense_Mutation SNP T T A TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr2:86831681T>A c.1343A>T c.(1342-1344)aAt>aTt p.N448I KIRP 2 86832185 86832185 + Missense_Mutation SNP A A G TCGA-KV-A6GD-01A-11D-A31X-10 TCGA-KV-A6GD-10A-01D-A31X-10 g.chr2:86832185A>G c.839T>C c.(838-840)aTt>aCt p.I280T KIRP 2 86839326 86839326 + Frame_Shift_Del DEL T T - TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr2:86839326delT c.438delA c.(436-438)agafs p.R146fs LGG 2 86831209 86831209 + Silent SNP T T C TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 g.chr2:86831209T>C c.1815A>G c.(1813-1815)gaA>gaG p.E605E LGG 2 86831482 86831482 + Missense_Mutation SNP C C A TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr2:86831482C>A c.1542G>T c.(1540-1542)atG>atT p.M514I LGG 2 86831491 86831491 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:86831491G>A c.1533C>T c.(1531-1533)aaC>aaT p.N511N LGG 2 86831619 86831619 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr2:86831619G>A c.1405C>T c.(1405-1407)Ccg>Tcg p.P469S LGG 2 86839366 86839366 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr2:86839366C>T c.398G>A c.(397-399)gGc>gAc p.G133D LIHC 2 86849812 86849812 + Silent SNP C C T TCGA-2Y-A9HA-01A-11D-A38X-10 TCGA-2Y-A9HA-10A-01D-A38X-10 g.chr2:86849812C>T c.198G>A c.(196-198)aaG>aaA p.K66K LUAD 2 86831014 86831015 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr2:86831014_86831015insT c.2009_2010insA c.(2008-2010)aagfs p.K670fs LUAD 2 86831035 86831035 + Silent SNP C C G TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr2:86831035C>G c.1989G>C c.(1987-1989)cgG>cgC p.R663R LUAD 2 86831094 86831094 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr2:86831094G>A c.1930C>T c.(1930-1932)Cat>Tat p.H644Y LUAD 2 86831528 86831529 + Frame_Shift_Ins INS - - A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr2:86831528_86831529insA c.1495_1496insT c.(1495-1497)tggfs p.W499fs LUAD 2 86831549 86831549 + Missense_Mutation SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr2:86831549C>T c.1475G>A c.(1474-1476)cGc>cAc p.R492H LUAD 2 86831831 86831831 + Missense_Mutation SNP T T G TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr2:86831831T>G c.1193A>C c.(1192-1194)aAt>aCt p.N398T LUAD 2 86832183 86832183 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr2:86832183C>T c.841G>A c.(841-843)Ggc>Agc p.G281S LUAD 2 86847581 86847581 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr2:86847581C>A c.238G>T c.(238-240)Gag>Tag p.E80* LUAD 2 86847582 86847582 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr2:86847582C>A c.237G>T c.(235-237)atG>atT p.M79I LUAD 2 86849937 86849937 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr2:86849937T>C c.73A>G c.(73-75)Att>Gtt p.I25V LUSC 2 86831609 86831609 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:86831609G>A c.1415C>T c.(1414-1416)tCt>tTt p.S472F LUSC 2 86831828 86831828 + Missense_Mutation SNP G G T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr2:86831828G>T c.1196C>A c.(1195-1197)aCa>aAa p.T399K PAAD 2 86831014 86831015 + Frame_Shift_Ins INS - - T TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr2:86831014_86831015insT c.2009_2010insA c.(2008-2010)aagfs p.K670fs PAAD 2 86831267 86831267 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:86831267C>A c.1757G>T c.(1756-1758)aGc>aTc p.S586I PAAD 2 86831816 86831816 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:86831816G>T c.1208C>A c.(1207-1209)gCt>gAt p.A403D PAAD 2 86839366 86839366 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr2:86839366C>T c.398G>A c.(397-399)gGc>gAc p.G133D PRAD 2 86832362 86832362 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:86832362T>C c.662A>G c.(661-663)gAa>gGa p.E221G PRAD 2 86839316 86839316 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:86839316G>A c.448C>T c.(448-450)Cgt>Tgt p.R150C PRAD 2 86847496 86847496 + Missense_Mutation SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 g.chr2:86847496T>C c.323A>G c.(322-324)tAt>tGt p.Y108C READ 2 86831930 86831930 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:86831930G>T c.1094C>A c.(1093-1095)tCt>tAt p.S365Y READ 2 86847522 86847522 + Silent SNP G G A TCGA-AG-3593-01A-01W-0831-10 TCGA-AG-3593-10A-01W-0831-10 g.chr2:86847522G>A c.297C>T c.(295-297)acC>acT p.T99T READ 2 86849812 86849814 + In_Frame_Del DEL CTT CTT - TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr2:86849812_86849814delCTT c.196_198delAAG c.(196-198)aagdel p.K66del SKCM 2 86831042 86831042 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr2:86831042A>T c.1982T>A c.(1981-1983)gTt>gAt p.V661D SKCM 2 86831052 86831052 + Missense_Mutation SNP A A C TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr2:86831052A>C c.1972T>G c.(1972-1974)Tgt>Ggt p.C658G SKCM 2 86831059 86831059 + Silent SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr2:86831059G>A c.1965C>T c.(1963-1965)ggC>ggT p.G655G SKCM 2 86831120 86831120 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr2:86831120A>T c.1904T>A c.(1903-1905)aTg>aAg p.M635K SKCM 2 86831436 86831436 + Missense_Mutation SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr2:86831436C>T c.1588G>A c.(1588-1590)Gag>Aag p.E530K SKCM 2 86831597 86831597 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr2:86831597A>T c.1427T>A c.(1426-1428)tTt>tAt p.F476Y SKCM 2 86839319 86839319 + Missense_Mutation SNP T T A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr2:86839319T>A c.445A>T c.(445-447)Ata>Tta p.I149L SKCM 2 86839324 86839324 + Missense_Mutation SNP A A G TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr2:86839324A>G c.440T>C c.(439-441)tTt>tCt p.F147S SKCM 2 86839375 86839375 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr2:86839375G>A c.389C>T c.(388-390)cCc>cTc p.P130L

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 2 86849815 86849815 single base substitution C G exon_variant BLCA-CN 2 86849815 86849815 single base substitution C G missense_variant K65N 195G>C BLCA-US 2 86832071 86832071 single base substitution G C exon_variant BLCA-US 2 86832071 86832071 single base substitution G C intron_variant BLCA-US 2 86832071 86832071 single base substitution G C stop_gained S318* 953C>G BLCA-US 2 86832395 86832395 single base substitution G A exon_variant BLCA-US 2 86832395 86832395 single base substitution G A intron_variant BLCA-US 2 86832395 86832395 single base substitution G A missense_variant A210V 629C>T BRCA-EU 2 86826072 86826072 single base substitution G C downstream_gene_variant BRCA-EU 2 86827961 86827961 single base substitution C A downstream_gene_variant BRCA-EU 2 86828860 86828860 single base substitution G A downstream_gene_variant BRCA-EU 2 86829189 86829189 single base substitution C T downstream_gene_variant BRCA-EU 2 86829456 86829457 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 2 86830054 86830054 single base substitution A G downstream_gene_variant BRCA-EU 2 86830399 86830399 single base substitution C A downstream_gene_variant BRCA-EU 2 86831015 86831015 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 86831015 86831015 deletion of <=200bp T - exon_variant BRCA-EU 2 86831015 86831015 deletion of <=200bp T - frameshift_variant K670 BRCA-EU 2 86831389 86831389 single base substitution G A downstream_gene_variant BRCA-EU 2 86831389 86831389 single base substitution G A exon_variant BRCA-EU 2 86831389 86831389 single base substitution G A synonymous_variant D545D 1635C>T BRCA-EU 2 86831400 86831400 single base substitution C G downstream_gene_variant BRCA-EU 2 86831400 86831400 single base substitution C G exon_variant BRCA-EU 2 86831400 86831400 single base substitution C G missense_variant E542Q 1624G>C BRCA-EU 2 86831585 86831585 single base substitution G T downstream_gene_variant BRCA-EU 2 86831585 86831585 single base substitution G T exon_variant BRCA-EU 2 86831585 86831585 single base substitution G T missense_variant S480Y 1439C>A BRCA-EU 2 86831928 86831928 single base substitution G A exon_variant BRCA-EU 2 86831928 86831928 single base substitution G A intron_variant BRCA-EU 2 86831928 86831928 single base substitution G A synonymous_variant L366L 1096C>T BRCA-EU 2 86832361 86832361 single base substitution T C exon_variant BRCA-EU 2 86832361 86832361 single base substitution T C intron_variant BRCA-EU 2 86832361 86832361 single base substitution T C synonymous_variant E221E 663A>G BRCA-EU 2 86832886 86832886 single base substitution T C intron_variant BRCA-EU 2 86833413 86833413 single base substitution C G intron_variant BRCA-EU 2 86834687 86834687 single base substitution G C intron_variant BRCA-EU 2 86835534 86835534 single base substitution C T intron_variant BRCA-EU 2 86835894 86835894 single base substitution C T intron_variant BRCA-EU 2 86837129 86837129 single base substitution T C intron_variant BRCA-EU 2 86837167 86837167 single base substitution G C intron_variant BRCA-EU 2 86838598 86838598 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 86838598 86838598 deletion of <=200bp A - intron_variant BRCA-EU 2 86839527 86839533 deletion of <=200bp TCACATT - downstream_gene_variant BRCA-EU 2 86839527 86839533 deletion of <=200bp TCACATT - exon_variant BRCA-EU 2 86839527 86839533 deletion of <=200bp TCACATT - intron_variant BRCA-EU 2 86841061 86841061 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 86841061 86841061 deletion of <=200bp T - exon_variant BRCA-EU 2 86841061 86841061 deletion of <=200bp T - intron_variant BRCA-EU 2 86841061 86841061 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 86841061 86841061 insertion of <=200bp - T exon_variant BRCA-EU 2 86841061 86841061 insertion of <=200bp - T intron_variant BRCA-EU 2 86841085 86841085 single base substitution A G downstream_gene_variant BRCA-EU 2 86841085 86841085 single base substitution A G exon_variant BRCA-EU 2 86841085 86841085 single base substitution A G intron_variant BRCA-EU 2 86841640 86841640 single base substitution C T downstream_gene_variant BRCA-EU 2 86841640 86841640 single base substitution C T exon_variant BRCA-EU 2 86841640 86841640 single base substitution C T intron_variant BRCA-EU 2 86841850 86841850 single base substitution T C downstream_gene_variant BRCA-EU 2 86841850 86841850 single base substitution T C intron_variant BRCA-EU 2 86841850 86841850 single base substitution T C upstream_gene_variant BRCA-EU 2 86844859 86844859 single base substitution G C exon_variant BRCA-EU 2 86844859 86844859 single base substitution G C intron_variant BRCA-EU 2 86844859 86844859 single base substitution G C upstream_gene_variant BRCA-EU 2 86845078 86845078 single base substitution C T exon_variant BRCA-EU 2 86845078 86845078 single base substitution C T intron_variant BRCA-EU 2 86845078 86845078 single base substitution C T upstream_gene_variant BRCA-EU 2 86845683 86845683 single base substitution T C intron_variant BRCA-EU 2 86845683 86845683 single base substitution T C upstream_gene_variant BRCA-EU 2 86845893 86845893 single base substitution G C intron_variant BRCA-EU 2 86845893 86845893 single base substitution G C upstream_gene_variant BRCA-EU 2 86846864 86846864 single base substitution C G intron_variant BRCA-EU 2 86847431 86847431 single base substitution A C intron_variant BRCA-EU 2 86848290 86848290 single base substitution G A intron_variant BRCA-EU 2 86848674 86848674 single base substitution T A intron_variant BRCA-EU 2 86849618 86849618 single base substitution A G intron_variant BRCA-EU 2 86851438 86851438 single base substitution A G upstream_gene_variant BRCA-EU 2 86852202 86852202 single base substitution C G upstream_gene_variant BRCA-EU 2 86852225 86852225 single base substitution A G upstream_gene_variant BRCA-EU 2 86854007 86854007 single base substitution G C upstream_gene_variant BRCA-EU 2 86854096 86854096 single base substitution C G upstream_gene_variant BRCA-EU 2 86855509 86855509 single base substitution G C upstream_gene_variant BRCA-FR 2 86828860 86828860 single base substitution G A downstream_gene_variant BRCA-FR 2 86834687 86834687 single base substitution G C intron_variant BRCA-UK 2 86845893 86845893 single base substitution G C intron_variant BRCA-UK 2 86845893 86845893 single base substitution G C upstream_gene_variant BRCA-UK 2 86848674 86848674 single base substitution T A intron_variant BRCA-UK 2 86849618 86849618 single base substitution A G intron_variant BRCA-US 2 86831014 86831014 single base substitution C G downstream_gene_variant BRCA-US 2 86831014 86831014 single base substitution C G exon_variant BRCA-US 2 86831014 86831014 single base substitution C G missense_variant K670N 2010G>C BRCA-US 2 86831287 86831287 single base substitution G A downstream_gene_variant BRCA-US 2 86831287 86831287 single base substitution G A exon_variant BRCA-US 2 86831287 86831287 single base substitution G A synonymous_variant A579A 1737C>T BRCA-US 2 86831694 86831694 single base substitution T C downstream_gene_variant BRCA-US 2 86831694 86831694 single base substitution T C exon_variant BRCA-US 2 86831694 86831694 single base substitution T C intron_variant BRCA-US 2 86831694 86831694 single base substitution T C missense_variant N444D 1330A>G BRCA-US 2 86832076 86832076 single base substitution C T exon_variant BRCA-US 2 86832076 86832076 single base substitution C T intron_variant BRCA-US 2 86832076 86832076 single base substitution C T synonymous_variant L316L 948G>A BRCA-US 2 86832518 86832518 single base substitution A C exon_variant BRCA-US 2 86832518 86832518 single base substitution A C intron_variant BRCA-US 2 86832518 86832518 single base substitution A C missense_variant V169G 506T>G BRCA-US 2 86847539 86847539 single base substitution C T exon_variant BRCA-US 2 86847539 86847539 single base substitution C T missense_variant E94K 280G>A BTCA-JP 2 86831015 86831015 deletion of <=200bp T - downstream_gene_variant BTCA-JP 2 86831015 86831015 deletion of <=200bp T - exon_variant BTCA-JP 2 86831015 86831015 deletion of <=200bp T - frameshift_variant K670 BTCA-JP 2 86839484 86839484 deletion of <=200bp A - downstream_gene_variant BTCA-JP 2 86839484 86839484 deletion of <=200bp A - exon_variant BTCA-JP 2 86839484 86839484 deletion of <=200bp A - intron_variant CESC-US 2 86831217 86831217 single base substitution C G downstream_gene_variant CESC-US 2 86831217 86831217 single base substitution C G exon_variant CESC-US 2 86831217 86831217 single base substitution C G missense_variant D603H 1807G>C CESC-US 2 86831408 86831408 single base substitution G A downstream_gene_variant CESC-US 2 86831408 86831408 single base substitution G A exon_variant CESC-US 2 86831408 86831408 single base substitution G A missense_variant S539L 1616C>T CLLE-ES 2 86828556 86828556 single base substitution C A downstream_gene_variant CLLE-ES 2 86828764 86828764 single base substitution T A downstream_gene_variant CLLE-ES 2 86831538 86831538 single base substitution G A downstream_gene_variant CLLE-ES 2 86831538 86831538 single base substitution G A exon_variant CLLE-ES 2 86831538 86831538 single base substitution G A missense_variant P496S 1486C>T CLLE-ES 2 86832249 86832249 single base substitution C T exon_variant CLLE-ES 2 86832249 86832249 single base substitution C T intron_variant CLLE-ES 2 86832249 86832249 single base substitution C T missense_variant G259R 775G>A CLLE-ES 2 86849828 86849828 single base substitution C T exon_variant CLLE-ES 2 86849828 86849828 single base substitution C T missense_variant G61E 182G>A COAD-US 2 86831015 86831015 deletion of <=200bp T - downstream_gene_variant COAD-US 2 86831015 86831015 deletion of <=200bp T - exon_variant COAD-US 2 86831015 86831015 deletion of <=200bp T - frameshift_variant K670 COAD-US 2 86832111 86832111 single base substitution C T exon_variant COAD-US 2 86832111 86832111 single base substitution C T intron_variant COAD-US 2 86832111 86832111 single base substitution C T missense_variant E305K 913G>A COAD-US 2 86832415 86832415 deletion of <=200bp A - exon_variant COAD-US 2 86832415 86832415 deletion of <=200bp A - frameshift_variant F203 COAD-US 2 86832415 86832415 deletion of <=200bp A - intron_variant COAD-US 2 86832460 86832460 single base substitution C T exon_variant COAD-US 2 86832460 86832460 single base substitution C T intron_variant COAD-US 2 86832460 86832460 single base substitution C T missense_variant M188I 564G>A COAD-US 2 86847539 86847539 single base substitution C T exon_variant COAD-US 2 86847539 86847539 single base substitution C T missense_variant E94K 280G>A COCA-CN 2 86831057 86831057 single base substitution C T downstream_gene_variant COCA-CN 2 86831057 86831057 single base substitution C T exon_variant COCA-CN 2 86831057 86831057 single base substitution C T missense_variant R656Q 1967G>A COCA-CN 2 86831231 86831231 single base substitution T C downstream_gene_variant COCA-CN 2 86831231 86831231 single base substitution T C exon_variant COCA-CN 2 86831231 86831231 single base substitution T C missense_variant Y598C 1793A>G COCA-CN 2 86831687 86831687 single base substitution T C downstream_gene_variant COCA-CN 2 86831687 86831687 single base substitution T C exon_variant COCA-CN 2 86831687 86831687 single base substitution T C intron_variant COCA-CN 2 86831687 86831687 single base substitution T C missense_variant E446G 1337A>G COCA-CN 2 86831876 86831876 single base substitution A G exon_variant COCA-CN 2 86831876 86831876 single base substitution A G intron_variant COCA-CN 2 86831876 86831876 single base substitution A G missense_variant L383S 1148T>C COCA-CN 2 86839363 86839363 single base substitution T G downstream_gene_variant COCA-CN 2 86839363 86839363 single base substitution T G exon_variant COCA-CN 2 86839363 86839363 single base substitution T G missense_variant K134T 401A>C ESAD-UK 2 86826911 86826911 insertion of <=200bp - ATAT downstream_gene_variant ESAD-UK 2 86826922 86826922 single base substitution C T downstream_gene_variant ESAD-UK 2 86827375 86827375 single base substitution G T downstream_gene_variant ESAD-UK 2 86828765 86828765 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 86829489 86829489 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 86831432 86831432 single base substitution C T downstream_gene_variant ESAD-UK 2 86831432 86831432 single base substitution C T exon_variant ESAD-UK 2 86831432 86831432 single base substitution C T missense_variant G531E 1592G>A ESAD-UK 2 86831693 86831695 deletion of <=200bp TTG - disruptive_inframe_deletion NN443N ESAD-UK 2 86831693 86831695 deletion of <=200bp TTG - downstream_gene_variant ESAD-UK 2 86831693 86831695 deletion of <=200bp TTG - exon_variant ESAD-UK 2 86831693 86831695 deletion of <=200bp TTG - intron_variant ESAD-UK 2 86836804 86836804 single base substitution G A intron_variant ESAD-UK 2 86840208 86840208 single base substitution C A downstream_gene_variant ESAD-UK 2 86840208 86840208 single base substitution C A exon_variant ESAD-UK 2 86840208 86840208 single base substitution C A intron_variant ESAD-UK 2 86841739 86841739 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 86841739 86841739 deletion of <=200bp A - exon_variant ESAD-UK 2 86841739 86841739 deletion of <=200bp A - intron_variant ESAD-UK 2 86843545 86843545 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 86843545 86843545 insertion of <=200bp - A intron_variant ESAD-UK 2 86843545 86843545 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 86845217 86845217 single base substitution T G intron_variant ESAD-UK 2 86845217 86845217 single base substitution T G upstream_gene_variant ESAD-UK 2 86847415 86847415 single base substitution G C intron_variant ESAD-UK 2 86849698 86849698 single base substitution A T intron_variant ESAD-UK 2 86850567 86850567 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 2 86850567 86850567 single base substitution G A intron_variant ESAD-UK 2 86850567 86850567 single base substitution G A upstream_gene_variant ESAD-UK 2 86850922 86850922 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 2 86850922 86850922 single base substitution G A intron_variant ESAD-UK 2 86850922 86850922 single base substitution G A upstream_gene_variant ESAD-UK 2 86851214 86851214 single base substitution T A upstream_gene_variant ESAD-UK 2 86852665 86852665 single base substitution C G upstream_gene_variant ESAD-UK 2 86853940 86853940 single base substitution G A upstream_gene_variant ESAD-UK 2 86853979 86853979 single base substitution C T upstream_gene_variant ESAD-UK 2 86854167 86854167 single base substitution G A upstream_gene_variant ESAD-UK 2 86854367 86854367 single base substitution C T upstream_gene_variant ESAD-UK 2 86855845 86855845 single base substitution T G upstream_gene_variant KIRC-US 2 86831681 86831681 single base substitution T A downstream_gene_variant KIRC-US 2 86831681 86831681 single base substitution T A exon_variant KIRC-US 2 86831681 86831681 single base substitution T A intron_variant KIRC-US 2 86831681 86831681 single base substitution T A missense_variant N448I 1343A>T KIRP-US 2 86832185 86832185 single base substitution A G exon_variant KIRP-US 2 86832185 86832185 single base substitution A G intron_variant KIRP-US 2 86832185 86832185 single base substitution A G missense_variant I280T 839T>C LAML-KR 2 86850022 86850022 single base substitution T C 5_prime_UTR_variant LAML-KR 2 86850022 86850022 single base substitution T C exon_variant LAML-KR 2 86850022 86850022 single base substitution T C intron_variant LAML-KR 2 86850022 86850022 single base substitution T C upstream_gene_variant LAML-KR 2 86850050 86850050 single base substitution C A 5_prime_UTR_variant LAML-KR 2 86850050 86850050 single base substitution C A exon_variant LAML-KR 2 86850050 86850050 single base substitution C A intron_variant LAML-KR 2 86850050 86850050 single base substitution C A upstream_gene_variant LGG-US 2 86831209 86831209 single base substitution T C downstream_gene_variant LGG-US 2 86831209 86831209 single base substitution T C exon_variant LGG-US 2 86831209 86831209 single base substitution T C synonymous_variant E605E 1815A>G LICA-FR 2 86830085 86830085 single base substitution G A downstream_gene_variant LICA-FR 2 86830526 86830526 single base substitution G A 3_prime_UTR_variant LICA-FR 2 86830526 86830526 single base substitution G A downstream_gene_variant LICA-FR 2 86830526 86830526 single base substitution G A exon_variant LICA-FR 2 86831809 86831809 single base substitution C T exon_variant LICA-FR 2 86831809 86831809 single base substitution C T intron_variant LICA-FR 2 86831809 86831809 single base substitution C T stop_gained W405* 1215G>A LICA-FR 2 86839612 86839612 single base substitution C T downstream_gene_variant LICA-FR 2 86839612 86839612 single base substitution C T exon_variant LICA-FR 2 86839612 86839612 single base substitution C T intron_variant LICA-FR 2 86840123 86840123 single base substitution C T downstream_gene_variant LICA-FR 2 86840123 86840123 single base substitution C T exon_variant LICA-FR 2 86840123 86840123 single base substitution C T intron_variant LICA-FR 2 86846669 86846669 single base substitution C T intron_variant LICA-FR 2 86846669 86846669 single base substitution C T upstream_gene_variant LICA-FR 2 86849122 86849122 insertion of <=200bp - A intron_variant LINC-JP 2 86839265 86839265 single base substitution T C downstream_gene_variant LINC-JP 2 86839265 86839265 single base substitution T C intron_variant LINC-JP 2 86850922 86850922 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 2 86850922 86850922 single base substitution G A intron_variant LINC-JP 2 86850922 86850922 single base substitution G A upstream_gene_variant LINC-JP 2 86853826 86853826 single base substitution A G upstream_gene_variant LINC-JP 2 86853874 86853874 single base substitution C T upstream_gene_variant LIRI-JP 2 86827575 86827575 single base substitution G T downstream_gene_variant LIRI-JP 2 86828437 86828437 single base substitution T C downstream_gene_variant LIRI-JP 2 86828586 86828586 single base substitution T C downstream_gene_variant LIRI-JP 2 86828884 86828884 single base substitution G T downstream_gene_variant LIRI-JP 2 86829278 86829278 single base substitution C A downstream_gene_variant LIRI-JP 2 86830109 86830109 single base substitution G T downstream_gene_variant LIRI-JP 2 86832466 86832466 single base substitution T C exon_variant LIRI-JP 2 86832466 86832466 single base substitution T C intron_variant LIRI-JP 2 86832466 86832466 single base substitution T C synonymous_variant K186K 558A>G LIRI-JP 2 86833214 86833214 single base substitution C G intron_variant LIRI-JP 2 86835602 86835602 single base substitution T C intron_variant LIRI-JP 2 86836250 86836250 single base substitution T C intron_variant LIRI-JP 2 86838502 86838502 single base substitution T C intron_variant LIRI-JP 2 86840970 86840970 single base substitution G A downstream_gene_variant LIRI-JP 2 86840970 86840970 single base substitution G A exon_variant LIRI-JP 2 86840970 86840970 single base substitution G A intron_variant LIRI-JP 2 86841227 86841227 single base substitution T C downstream_gene_variant LIRI-JP 2 86841227 86841227 single base substitution T C exon_variant LIRI-JP 2 86841227 86841227 single base substitution T C intron_variant LIRI-JP 2 86841978 86841978 single base substitution A G downstream_gene_variant LIRI-JP 2 86841978 86841978 single base substitution A G intron_variant LIRI-JP 2 86841978 86841978 single base substitution A G upstream_gene_variant LIRI-JP 2 86843708 86843708 single base substitution C T downstream_gene_variant LIRI-JP 2 86843708 86843708 single base substitution C T exon_variant LIRI-JP 2 86843708 86843708 single base substitution C T intron_variant LIRI-JP 2 86843708 86843708 single base substitution C T upstream_gene_variant LIRI-JP 2 86844269 86844269 single base substitution A G exon_variant LIRI-JP 2 86844269 86844269 single base substitution A G intron_variant LIRI-JP 2 86844269 86844269 single base substitution A G upstream_gene_variant LIRI-JP 2 86846103 86846103 single base substitution A C intron_variant LIRI-JP 2 86846103 86846103 single base substitution A C upstream_gene_variant LIRI-JP 2 86847383 86847383 single base substitution T G intron_variant LIRI-JP 2 86847746 86847746 single base substitution C A intron_variant LIRI-JP 2 86850038 86850038 single base substitution G T 5_prime_UTR_variant LIRI-JP 2 86850038 86850038 single base substitution G T exon_variant LIRI-JP 2 86850038 86850038 single base substitution G T intron_variant LIRI-JP 2 86850038 86850038 single base substitution G T upstream_gene_variant LIRI-JP 2 86851339 86851339 single base substitution G C upstream_gene_variant LIRI-JP 2 86853963 86853963 single base substitution G T upstream_gene_variant LIRI-JP 2 86854214 86854214 single base substitution C T upstream_gene_variant LIRI-JP 2 86854819 86854819 single base substitution C T upstream_gene_variant LUSC-KR 2 86827379 86827379 single base substitution C A downstream_gene_variant LUSC-KR 2 86829661 86829661 single base substitution C A downstream_gene_variant LUSC-KR 2 86831032 86831032 single base substitution C T downstream_gene_variant LUSC-KR 2 86831032 86831032 single base substitution C T exon_variant LUSC-KR 2 86831032 86831032 single base substitution C T stop_gained W664* 1992G>A LUSC-KR 2 86832462 86832462 single base substitution T C exon_variant LUSC-KR 2 86832462 86832462 single base substitution T C intron_variant LUSC-KR 2 86832462 86832462 single base substitution T C missense_variant M188V 562A>G LUSC-KR 2 86834574 86834574 single base substitution C A intron_variant LUSC-KR 2 86835114 86835114 single base substitution C A intron_variant LUSC-KR 2 86837684 86837684 single base substitution A G intron_variant LUSC-KR 2 86840876 86840876 single base substitution G A downstream_gene_variant LUSC-KR 2 86840876 86840876 single base substitution G A exon_variant LUSC-KR 2 86840876 86840876 single base substitution G A intron_variant LUSC-KR 2 86841279 86841279 single base substitution C G downstream_gene_variant LUSC-KR 2 86841279 86841279 single base substitution C G exon_variant LUSC-KR 2 86841279 86841279 single base substitution C G intron_variant LUSC-KR 2 86842376 86842376 single base substitution C T downstream_gene_variant LUSC-KR 2 86842376 86842376 single base substitution C T exon_variant LUSC-KR 2 86842376 86842376 single base substitution C T intron_variant LUSC-KR 2 86842376 86842376 single base substitution C T upstream_gene_variant LUSC-KR 2 86842386 86842386 single base substitution C A downstream_gene_variant LUSC-KR 2 86842386 86842386 single base substitution C A intron_variant LUSC-KR 2 86842386 86842386 single base substitution C A splice_region_variant LUSC-KR 2 86842386 86842386 single base substitution C A upstream_gene_variant LUSC-KR 2 86842660 86842660 single base substitution T A downstream_gene_variant LUSC-KR 2 86842660 86842660 single base substitution T A intron_variant LUSC-KR 2 86842660 86842660 single base substitution T A upstream_gene_variant LUSC-KR 2 86847383 86847383 single base substitution T G intron_variant LUSC-KR 2 86851651 86851651 single base substitution G T upstream_gene_variant LUSC-KR 2 86855328 86855328 single base substitution A G upstream_gene_variant LUSC-US 2 86831609 86831609 single base substitution G A downstream_gene_variant LUSC-US 2 86831609 86831609 single base substitution G A exon_variant LUSC-US 2 86831609 86831609 single base substitution G A intron_variant LUSC-US 2 86831609 86831609 single base substitution G A missense_variant S472F 1415C>T LUSC-US 2 86831828 86831828 single base substitution G T exon_variant LUSC-US 2 86831828 86831828 single base substitution G T intron_variant LUSC-US 2 86831828 86831828 single base substitution G T missense_variant T399K 1196C>A MALY-DE 2 86833371 86833371 single base substitution A T intron_variant MALY-DE 2 86841994 86841994 single base substitution C A downstream_gene_variant MALY-DE 2 86841994 86841994 single base substitution C A intron_variant MALY-DE 2 86841994 86841994 single base substitution C A upstream_gene_variant MELA-AU 2 86825708 86825711 deletion of <=200bp AAAT - downstream_gene_variant MELA-AU 2 86825711 86825711 single base substitution T C downstream_gene_variant MELA-AU 2 86826072 86826072 single base substitution G A downstream_gene_variant MELA-AU 2 86826124 86826124 single base substitution A G downstream_gene_variant MELA-AU 2 86826574 86826574 single base substitution G A downstream_gene_variant MELA-AU 2 86826820 86826820 single base substitution G A downstream_gene_variant MELA-AU 2 86826922 86826922 single base substitution C T downstream_gene_variant MELA-AU 2 86826923 86826923 single base substitution G A downstream_gene_variant MELA-AU 2 86826980 86826980 single base substitution G A downstream_gene_variant MELA-AU 2 86827136 86827136 single base substitution G A downstream_gene_variant MELA-AU 2 86827344 86827344 single base substitution T C downstream_gene_variant MELA-AU 2 86827813 86827813 single base substitution G A downstream_gene_variant MELA-AU 2 86828211 86828211 single base substitution G A downstream_gene_variant MELA-AU 2 86828525 86828525 single base substitution C A downstream_gene_variant MELA-AU 2 86828748 86828748 single base substitution A T downstream_gene_variant MELA-AU 2 86829020 86829021 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 86829113 86829113 single base substitution A T downstream_gene_variant MELA-AU 2 86829338 86829338 single base substitution C T downstream_gene_variant MELA-AU 2 86829450 86829450 single base substitution G A downstream_gene_variant MELA-AU 2 86829512 86829512 single base substitution G A downstream_gene_variant MELA-AU 2 86829636 86829636 single base substitution G A downstream_gene_variant MELA-AU 2 86829780 86829780 single base substitution G A downstream_gene_variant MELA-AU 2 86830537 86830537 single base substitution A T 3_prime_UTR_variant MELA-AU 2 86830537 86830537 single base substitution A T downstream_gene_variant MELA-AU 2 86830537 86830537 single base substitution A T exon_variant MELA-AU 2 86830625 86830625 single base substitution G A 3_prime_UTR_variant MELA-AU 2 86830625 86830625 single base substitution G A downstream_gene_variant MELA-AU 2 86830625 86830625 single base substitution G A exon_variant MELA-AU 2 86831436 86831436 single base substitution C T downstream_gene_variant MELA-AU 2 86831436 86831436 single base substitution C T exon_variant MELA-AU 2 86831436 86831436 single base substitution C T missense_variant E530K 1588G>A MELA-AU 2 86831538 86831538 single base substitution G A downstream_gene_variant MELA-AU 2 86831538 86831538 single base substitution G A exon_variant MELA-AU 2 86831538 86831538 single base substitution G A missense_variant P496S 1486C>T MELA-AU 2 86831539 86831539 single base substitution G A downstream_gene_variant MELA-AU 2 86831539 86831539 single base substitution G A exon_variant MELA-AU 2 86831539 86831539 single base substitution G A synonymous_variant F495F 1485C>T MELA-AU 2 86831906 86831906 single base substitution G A exon_variant MELA-AU 2 86831906 86831906 single base substitution G A intron_variant MELA-AU 2 86831906 86831906 single base substitution G A missense_variant P373L 1118C>T MELA-AU 2 86832062 86832062 single base substitution G A exon_variant MELA-AU 2 86832062 86832062 single base substitution G A intron_variant MELA-AU 2 86832062 86832062 single base substitution G A missense_variant P321L 962C>T MELA-AU 2 86832410 86832410 single base substitution C T exon_variant MELA-AU 2 86832410 86832410 single base substitution C T intron_variant MELA-AU 2 86832410 86832410 single base substitution C T stop_gained W205* 614G>A MELA-AU 2 86833044 86833044 single base substitution A T intron_variant MELA-AU 2 86834513 86834513 single base substitution G A intron_variant MELA-AU 2 86835402 86835402 single base substitution G A intron_variant MELA-AU 2 86835746 86835746 single base substitution C T intron_variant MELA-AU 2 86836028 86836028 single base substitution G A intron_variant MELA-AU 2 86836133 86836133 single base substitution C T intron_variant MELA-AU 2 86836315 86836315 single base substitution C T intron_variant MELA-AU 2 86837689 86837689 single base substitution A T intron_variant MELA-AU 2 86838833 86838833 single base substitution G A downstream_gene_variant MELA-AU 2 86838833 86838833 single base substitution G A intron_variant MELA-AU 2 86838948 86838948 single base substitution A C downstream_gene_variant MELA-AU 2 86838948 86838948 single base substitution A C intron_variant MELA-AU 2 86840388 86840388 single base substitution C T downstream_gene_variant MELA-AU 2 86840388 86840388 single base substitution C T exon_variant MELA-AU 2 86840388 86840388 single base substitution C T intron_variant MELA-AU 2 86841323 86841323 single base substitution G A downstream_gene_variant MELA-AU 2 86841323 86841323 single base substitution G A exon_variant MELA-AU 2 86841323 86841323 single base substitution G A intron_variant MELA-AU 2 86843670 86843670 single base substitution A T downstream_gene_variant MELA-AU 2 86843670 86843670 single base substitution A T exon_variant MELA-AU 2 86843670 86843670 single base substitution A T intron_variant MELA-AU 2 86843670 86843670 single base substitution A T upstream_gene_variant MELA-AU 2 86843935 86843935 single base substitution G A exon_variant MELA-AU 2 86843935 86843935 single base substitution G A intron_variant MELA-AU 2 86843935 86843935 single base substitution G A upstream_gene_variant MELA-AU 2 86845608 86845608 single base substitution G A intron_variant MELA-AU 2 86845608 86845608 single base substitution G A upstream_gene_variant MELA-AU 2 86846751 86846751 single base substitution G A intron_variant MELA-AU 2 86846751 86846751 single base substitution G A upstream_gene_variant MELA-AU 2 86847608 86847608 single base substitution G A intron_variant MELA-AU 2 86848036 86848036 single base substitution C T intron_variant MELA-AU 2 86848168 86848168 single base substitution G A intron_variant MELA-AU 2 86850427 86850427 single base substitution G C 5_prime_UTR_variant MELA-AU 2 86850427 86850427 single base substitution G C intron_variant MELA-AU 2 86850427 86850427 single base substitution G C upstream_gene_variant MELA-AU 2 86850942 86850942 single base substitution C T 5_prime_UTR_variant MELA-AU 2 86850942 86850942 single base substitution C T exon_variant MELA-AU 2 86850942 86850942 single base substitution C T upstream_gene_variant MELA-AU 2 86851813 86851813 single base substitution G A upstream_gene_variant MELA-AU 2 86851854 86851854 single base substitution G A upstream_gene_variant MELA-AU 2 86851873 86851873 single base substitution C T upstream_gene_variant MELA-AU 2 86852075 86852075 single base substitution G A upstream_gene_variant MELA-AU 2 86853268 86853268 single base substitution C A upstream_gene_variant MELA-AU 2 86853271 86853271 single base substitution G A upstream_gene_variant MELA-AU 2 86853465 86853465 single base substitution A C upstream_gene_variant MELA-AU 2 86853545 86853545 single base substitution C T upstream_gene_variant MELA-AU 2 86854102 86854102 single base substitution C T upstream_gene_variant MELA-AU 2 86854359 86854359 single base substitution C A upstream_gene_variant MELA-AU 2 86854830 86854830 single base substitution G A upstream_gene_variant MELA-AU 2 86854906 86854906 single base substitution G A upstream_gene_variant MELA-AU 2 86855082 86855082 single base substitution C T upstream_gene_variant MELA-AU 2 86855183 86855183 single base substitution C T upstream_gene_variant MELA-AU 2 86855501 86855501 single base substitution G A upstream_gene_variant MELA-AU 2 86855572 86855572 single base substitution C T upstream_gene_variant MELA-AU 2 86855669 86855669 single base substitution C T upstream_gene_variant MELA-AU 2 86855842 86855842 single base substitution T C upstream_gene_variant MELA-AU 2 86855933 86855933 single base substitution C T upstream_gene_variant MELA-AU 2 86855943 86855943 single base substitution T C upstream_gene_variant ORCA-IN 2 86843892 86843892 single base substitution G A exon_variant ORCA-IN 2 86843892 86843892 single base substitution G A intron_variant ORCA-IN 2 86843892 86843892 single base substitution G A upstream_gene_variant ORCA-IN 2 86853963 86853963 single base substitution G A upstream_gene_variant OV-AU 2 86828136 86828136 single base substitution G C downstream_gene_variant OV-AU 2 86832286 86832286 single base substitution G A exon_variant OV-AU 2 86832286 86832286 single base substitution G A intron_variant OV-AU 2 86832286 86832286 single base substitution G A synonymous_variant P246P 738C>T OV-AU 2 86832743 86832743 single base substitution A T intron_variant OV-AU 2 86832926 86832926 single base substitution G A intron_variant OV-AU 2 86836298 86836298 single base substitution A T intron_variant OV-AU 2 86837816 86837816 single base substitution A G intron_variant OV-AU 2 86843102 86843102 single base substitution T C downstream_gene_variant OV-AU 2 86843102 86843102 single base substitution T C intron_variant OV-AU 2 86843102 86843102 single base substitution T C upstream_gene_variant OV-AU 2 86851950 86851950 single base substitution A G upstream_gene_variant PACA-AU 2 86826367 86826367 single base substitution A T downstream_gene_variant PACA-AU 2 86831037 86831037 single base substitution G A downstream_gene_variant PACA-AU 2 86831037 86831037 single base substitution G A exon_variant PACA-AU 2 86831037 86831037 single base substitution G A missense_variant R663W 1987C>T PACA-AU 2 86833800 86833800 single base substitution A G intron_variant PACA-AU 2 86834730 86834730 single base substitution C T intron_variant PACA-AU 2 86835470 86835470 single base substitution C A intron_variant PACA-AU 2 86837850 86837853 deletion of <=200bp TTTG - intron_variant PACA-AU 2 86841180 86841180 single base substitution G A downstream_gene_variant PACA-AU 2 86841180 86841180 single base substitution G A exon_variant PACA-AU 2 86841180 86841180 single base substitution G A intron_variant PACA-AU 2 86847407 86847407 deletion of <=200bp T - intron_variant PACA-AU 2 86855632 86855632 single base substitution G A upstream_gene_variant PACA-CA 2 86826453 86826453 single base substitution C T downstream_gene_variant PACA-CA 2 86829538 86829538 single base substitution A G downstream_gene_variant PACA-CA 2 86831452 86831452 single base substitution A G downstream_gene_variant PACA-CA 2 86831452 86831452 single base substitution A G exon_variant PACA-CA 2 86831452 86831452 single base substitution A G synonymous_variant S524S 1572T>C PACA-CA 2 86831808 86831808 single base substitution C T exon_variant PACA-CA 2 86831808 86831808 single base substitution C T intron_variant PACA-CA 2 86831808 86831808 single base substitution C T missense_variant V406I 1216G>A PACA-CA 2 86833141 86833141 single base substitution G C intron_variant PACA-CA 2 86833799 86833799 single base substitution A G intron_variant PACA-CA 2 86838232 86838232 single base substitution G A intron_variant PACA-CA 2 86839238 86839238 single base substitution T A downstream_gene_variant PACA-CA 2 86839238 86839238 single base substitution T A intron_variant PACA-CA 2 86839239 86839239 single base substitution C T downstream_gene_variant PACA-CA 2 86839239 86839239 single base substitution C T intron_variant PACA-CA 2 86840906 86840906 single base substitution C A downstream_gene_variant PACA-CA 2 86840906 86840906 single base substitution C A exon_variant PACA-CA 2 86840906 86840906 single base substitution C A intron_variant PACA-CA 2 86842543 86842543 single base substitution C T downstream_gene_variant PACA-CA 2 86842543 86842543 single base substitution C T intron_variant PACA-CA 2 86842543 86842543 single base substitution C T upstream_gene_variant PACA-CA 2 86842621 86842621 insertion of <=200bp - AT downstream_gene_variant PACA-CA 2 86842621 86842621 insertion of <=200bp - AT intron_variant PACA-CA 2 86842621 86842621 insertion of <=200bp - AT upstream_gene_variant PACA-CA 2 86847470 86847470 single base substitution C A exon_variant PACA-CA 2 86847470 86847470 single base substitution C A missense_variant G117C 349G>T PACA-CA 2 86847568 86847568 single base substitution T C exon_variant PACA-CA 2 86847568 86847568 single base substitution T C missense_variant Y84C 251A>G PACA-CA 2 86848207 86848207 single base substitution C T intron_variant PACA-CA 2 86851508 86851509 deletion of <=200bp AC - upstream_gene_variant PACA-CA 2 86852391 86852391 single base substitution T C upstream_gene_variant PACA-CA 2 86855243 86855243 single base substitution A G upstream_gene_variant PACA-CA 2 86855491 86855491 single base substitution G T upstream_gene_variant PAEN-AU 2 86850931 86850931 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PAEN-AU 2 86850931 86850931 single base substitution G A intron_variant PAEN-AU 2 86850931 86850931 single base substitution G A upstream_gene_variant PAEN-AU 2 86852271 86852271 single base substitution C A upstream_gene_variant PAEN-IT 2 86826577 86826577 single base substitution G T downstream_gene_variant PBCA-DE 2 86827319 86827319 single base substitution C A downstream_gene_variant PBCA-DE 2 86838509 86838509 single base substitution C T intron_variant PBCA-DE 2 86841061 86841061 deletion of <=200bp T - downstream_gene_variant PBCA-DE 2 86841061 86841061 deletion of <=200bp T - exon_variant PBCA-DE 2 86841061 86841061 deletion of <=200bp T - intron_variant PBCA-DE 2 86852009 86852009 single base substitution T A upstream_gene_variant PBCA-DE 2 86855054 86855054 deletion of <=200bp A - upstream_gene_variant PRAD-CA 2 86825726 86825726 single base substitution A G downstream_gene_variant PRAD-CA 2 86833751 86833751 single base substitution A C intron_variant PRAD-CA 2 86833796 86833796 single base substitution A G intron_variant PRAD-CA 2 86835875 86835875 single base substitution C T intron_variant PRAD-UK 2 86825903 86825906 deletion of <=200bp AAAG - downstream_gene_variant PRAD-UK 2 86830601 86830601 single base substitution T C 3_prime_UTR_variant PRAD-UK 2 86830601 86830601 single base substitution T C downstream_gene_variant PRAD-UK 2 86830601 86830601 single base substitution T C exon_variant PRAD-US 2 86847496 86847496 single base substitution T C exon_variant PRAD-US 2 86847496 86847496 single base substitution T C missense_variant Y108C 323A>G READ-US 2 86831923 86831923 single base substitution T G exon_variant READ-US 2 86831923 86831923 single base substitution T G intron_variant READ-US 2 86831923 86831923 single base substitution T G missense_variant L367F 1101A>C READ-US 2 86847482 86847482 single base substitution C T exon_variant READ-US 2 86847482 86847482 single base substitution C T missense_variant D113N 337G>A READ-US 2 86847539 86847539 single base substitution C T exon_variant READ-US 2 86847539 86847539 single base substitution C T missense_variant E94K 280G>A RECA-EU 2 86832742 86832742 single base substitution T G intron_variant SKCA-BR 2 86826500 86826500 single base substitution G A downstream_gene_variant SKCA-BR 2 86827727 86827727 single base substitution G A downstream_gene_variant SKCA-BR 2 86828746 86828751 deletion of <=200bp TAATAA - downstream_gene_variant SKCA-BR 2 86830625 86830625 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 86830625 86830625 single base substitution G A downstream_gene_variant SKCA-BR 2 86830625 86830625 single base substitution G A exon_variant SKCA-BR 2 86832942 86832942 single base substitution G T intron_variant SKCA-BR 2 86833261 86833261 single base substitution G A intron_variant SKCA-BR 2 86838133 86838133 insertion of <=200bp - CAA intron_variant SKCA-BR 2 86838133 86838133 insertion of <=200bp - CA intron_variant SKCA-BR 2 86840870 86840870 single base substitution G A downstream_gene_variant SKCA-BR 2 86840870 86840870 single base substitution G A exon_variant SKCA-BR 2 86840870 86840870 single base substitution G A intron_variant SKCA-BR 2 86842285 86842285 single base substitution A G downstream_gene_variant SKCA-BR 2 86842285 86842285 single base substitution A G exon_variant SKCA-BR 2 86842285 86842285 single base substitution A G intron_variant SKCA-BR 2 86842285 86842285 single base substitution A G upstream_gene_variant SKCA-BR 2 86851008 86851008 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 2 86851013 86851013 single base substitution C G upstream_gene_variant SKCA-BR 2 86851922 86851933 deletion of <=200bp CAAAAAAAAAAA - upstream_gene_variant SKCA-BR 2 86853361 86853361 single base substitution A T upstream_gene_variant SKCA-BR 2 86853620 86853620 single base substitution C T upstream_gene_variant SKCA-BR 2 86853798 86853798 single base substitution T C upstream_gene_variant SKCM-US 2 86831042 86831042 single base substitution A T downstream_gene_variant SKCM-US 2 86831042 86831042 single base substitution A T exon_variant SKCM-US 2 86831042 86831042 single base substitution A T missense_variant V661D 1982T>A SKCM-US 2 86831052 86831052 single base substitution A C downstream_gene_variant SKCM-US 2 86831052 86831052 single base substitution A C exon_variant SKCM-US 2 86831052 86831052 single base substitution A C missense_variant C658G 1972T>G SKCM-US 2 86831059 86831059 single base substitution G A downstream_gene_variant SKCM-US 2 86831059 86831059 single base substitution G A exon_variant SKCM-US 2 86831059 86831059 single base substitution G A synonymous_variant G655G 1965C>T SKCM-US 2 86831120 86831120 single base substitution A T downstream_gene_variant SKCM-US 2 86831120 86831120 single base substitution A T exon_variant SKCM-US 2 86831120 86831120 single base substitution A T missense_variant M635K 1904T>A SKCM-US 2 86831436 86831436 single base substitution C T downstream_gene_variant SKCM-US 2 86831436 86831436 single base substitution C T exon_variant SKCM-US 2 86831436 86831436 single base substitution C T missense_variant E530K 1588G>A SKCM-US 2 86831597 86831597 single base substitution A T downstream_gene_variant SKCM-US 2 86831597 86831597 single base substitution A T exon_variant SKCM-US 2 86831597 86831597 single base substitution A T missense_variant F476Y 1427T>A SKCM-US 2 86831623 86831623 single base substitution G A downstream_gene_variant SKCM-US 2 86831623 86831623 single base substitution G A exon_variant SKCM-US 2 86831623 86831623 single base substitution G A intron_variant SKCM-US 2 86831623 86831623 single base substitution G A synonymous_variant F467F 1401C>T SKCM-US 2 86832146 86832146 single base substitution G A exon_variant SKCM-US 2 86832146 86832146 single base substitution G A intron_variant SKCM-US 2 86832146 86832146 single base substitution G A missense_variant P293L 878C>T SKCM-US 2 86832295 86832295 single base substitution A T exon_variant SKCM-US 2 86832295 86832295 single base substitution A T intron_variant SKCM-US 2 86832295 86832295 single base substitution A T synonymous_variant L243L 729T>A SKCM-US 2 86839319 86839319 single base substitution T A downstream_gene_variant SKCM-US 2 86839319 86839319 single base substitution T A exon_variant SKCM-US 2 86839319 86839319 single base substitution T A missense_variant I149L 445A>T SKCM-US 2 86839324 86839324 single base substitution A G downstream_gene_variant SKCM-US 2 86839324 86839324 single base substitution A G exon_variant SKCM-US 2 86839324 86839324 single base substitution A G missense_variant F147S 440T>C SKCM-US 2 86839375 86839375 single base substitution G A downstream_gene_variant SKCM-US 2 86839375 86839375 single base substitution G A exon_variant SKCM-US 2 86839375 86839375 single base substitution G A missense_variant P130L 389C>T STAD-US 2 86831536 86831536 single base substitution A G downstream_gene_variant STAD-US 2 86831536 86831536 single base substitution A G exon_variant STAD-US 2 86831536 86831536 single base substitution A G synonymous_variant P496P 1488T>C STAD-US 2 86831891 86831891 deletion of <=200bp A - exon_variant STAD-US 2 86831891 86831891 deletion of <=200bp A - frameshift_variant L378 STAD-US 2 86831891 86831891 deletion of <=200bp A - intron_variant STAD-US 2 86839315 86839315 single base substitution C A downstream_gene_variant STAD-US 2 86839315 86839315 single base substitution C A exon_variant STAD-US 2 86839315 86839315 single base substitution C A missense_variant R150L 449G>T STAD-US 2 86849918 86849918 single base substitution C T exon_variant STAD-US 2 86849918 86849918 single base substitution C T missense_variant G31D 92G>A UCEC-US 2 86831124 86831124 single base substitution G A downstream_gene_variant UCEC-US 2 86831124 86831124 single base substitution G A exon_variant UCEC-US 2 86831124 86831124 single base substitution G A synonymous_variant L634L 1900C>T UCEC-US 2 86831207 86831207 single base substitution G T downstream_gene_variant UCEC-US 2 86831207 86831207 single base substitution G T exon_variant UCEC-US 2 86831207 86831207 single base substitution G T missense_variant P606H 1817C>A UCEC-US 2 86831398 86831398 single base substitution C A downstream_gene_variant UCEC-US 2 86831398 86831398 single base substitution C A exon_variant UCEC-US 2 86831398 86831398 single base substitution C A missense_variant E542D 1626G>T UCEC-US 2 86831569 86831569 single base substitution G A downstream_gene_variant UCEC-US 2 86831569 86831569 single base substitution G A exon_variant UCEC-US 2 86831569 86831569 single base substitution G A synonymous_variant D485D 1455C>T UCEC-US 2 86831641 86831641 single base substitution C T downstream_gene_variant UCEC-US 2 86831641 86831641 single base substitution C T exon_variant UCEC-US 2 86831641 86831641 single base substitution C T intron_variant UCEC-US 2 86831641 86831641 single base substitution C T stop_gained W461* 1383G>A UCEC-US 2 86831826 86831826 single base substitution T C exon_variant UCEC-US 2 86831826 86831826 single base substitution T C intron_variant UCEC-US 2 86831826 86831826 single base substitution T C missense_variant T400A 1198A>G UCEC-US 2 86832111 86832111 single base substitution C T exon_variant UCEC-US 2 86832111 86832111 single base substitution C T intron_variant UCEC-US 2 86832111 86832111 single base substitution C T missense_variant E305K 913G>A UCEC-US 2 86832346 86832346 single base substitution T A exon_variant UCEC-US 2 86832346 86832346 single base substitution T A intron_variant UCEC-US 2 86832346 86832346 single base substitution T A missense_variant E226D 678A>T UCEC-US 2 86839370 86839370 single base substitution C T downstream_gene_variant UCEC-US 2 86839370 86839370 single base substitution C T exon_variant UCEC-US 2 86839370 86839370 single base substitution C T missense_variant V132M 394G>A UCEC-US 2 86847538 86847538 single base substitution T C exon_variant UCEC-US 2 86847538 86847538 single base substitution T C missense_variant E94G 281A>G UCEC-US 2 86847539 86847539 single base substitution C T exon_variant UCEC-US 2 86847539 86847539 single base substitution C T missense_variant E94K 280G>A UCEC-US 2 86849955 86849955 single base substitution C T exon_variant UCEC-US 2 86849955 86849955 single base substitution C T missense_variant A19T 55G>A UCEC-US 2 86849955 86849955 single base substitution C T splice_region_variant UCEC-US 2 86849955 86849955 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587238 COSM1223878 c.1678G>A p.V560I Substitution - Missense 2:86604223-86604223 - TCGA-D3-A2JA-06 COSM3583835 c.445A>T p.I149L Substitution - Missense 2:86612196-86612196 - PD13755a COSM5777081 c.1635C>T p.D545D Substitution - coding silent 2:86604266-86604266 - Br27P COSM40551 c.5G>A p.W2* Substitution - Nonsense 2:86622882-86622882 - 145 COSM3735194 c.941C>A p.S314* Substitution - Nonsense 2:86604960-86604960 - J88_T COSM3963194 c.1992G>A p.W664* Substitution - Nonsense 2:86603909-86603909 - TCGA-ER-A198-06 COSM3583828 c.1972T>G p.C658G Substitution - Missense 2:86603929-86603929 - 680-1992-01TD COSM145876 c.1486C>T p.P496S Substitution - Missense 2:86604415-86604415 - NCI-ADR-RES COSM1669124 c.1460A>C p.D487A Substitution - Missense 2:86604441-86604441 - TCGA-CA-6717-01 COSM197627 c.280G>A p.E94K Substitution - Missense 2:86620416-86620416 - OVCAR-8 COSM1669124 c.1460A>C p.D487A Substitution - Missense 2:86604441-86604441 - 2277219 COSM4422930 c.1678G>T p.V560L Substitution - Missense 2:86604223-86604223 - 2492729 COSM5727240 c.199G>A p.D67N Substitution - Missense 2:86622688-86622688 - 1517_PT COSM5756109 c.60G>T p.R20S Substitution - Missense 2:86622827-86622827 - TCGA-BP-5176-01 COSM477723 c.1343A>T p.N448I Substitution - Missense 2:86604558-86604558 - TCGA-18-3409-01 COSM722969 c.1415C>T p.S472F Substitution - Missense 2:86604486-86604486 - TCGA-AP-A059-01 COSM1023524 c.678A>T p.E226D Substitution - Missense 2:86605223-86605223 - CRC-19T COSM5481771 c.1148T>C p.L383S Substitution - Missense 2:86604753-86604753 - TCGA-A8-A0A6-01 COSM3840191 c.506T>G p.V169G Substitution - Missense 2:86605395-86605395 - ESO-0067 COSM1264332 c.1763G>A p.C588Y Substitution - Missense 2:86604138-86604138 - CADO-ES1 COSM2823157 c.2025A>G p.Q675Q Substitution - coding silent 2:86603876-86603876 - 587376 COSM197626 c.913G>A p.E305K Substitution - Missense 2:86604988-86604988 - TCGA-F5-6814-01 COSM197627 c.280G>A p.E94K Substitution - Missense 2:86620416-86620416 - GHE0536 COSM3583828 c.1972T>G p.C658G Substitution - Missense 2:86603929-86603929 - TCGA-B5-A11N-01 COSM1023526 c.281A>G p.E94G Substitution - Missense 2:86620415-86620415 - P124 COSM1736795 c.873A>T p.R291S Substitution - Missense 2:86605028-86605028 - 587222 COSM197627 c.280G>A p.E94K Substitution - Missense 2:86620416-86620416 - ESCC_124 COSM5641005 c.366+2T>C p.? Unknown 2:86620328-86620328 - TCGA-AG-A02N-01 COSM265420 c.196_198delAAG p.K66delK Deletion - In frame 2:86622689-86622691 - cSCCP6 COSM136259 c.1406C>T p.P469L Substitution - Missense 2:86604495-86604495 - 005-0015-01TD COSM145875 c.182G>A p.G61E Substitution - Missense 2:86622705-86622705 - SJMB017 COSM255355 c.1546C>T p.R516* Substitution - Nonsense 2:86604355-86604355 - MO_1005 COSM197627 c.280G>A p.E94K Substitution - Missense 2:86620416-86620416 - TCGA-AG-3593-01 COSM287977 c.297C>T p.T99T Substitution - coding silent 2:86620399-86620399 - TCGA-B5-A0K9-01 COSM1023525 c.394G>A p.V132M Substitution - Missense 2:86612247-86612247 - TCGA-EJ-7781-01 COSM1471359 c.323A>G p.Y108C Substitution - Missense 2:86620373-86620373 - TCGA-GN-A26C-01 COSM3583832 c.1401C>T p.F467F Substitution - coding silent 2:86604500-86604500 - SNU-C2B COSM4651487 c.28C>A p.L10I Substitution - Missense 2:86622859-86622859 - 364 COSM3723385 c.369C>G p.V123V Substitution - coding silent 2:86612272-86612272 - T3724 COSM4721922 c.1857T>C p.T619T Substitution - coding silent 2:86604044-86604044 - S02355 COSM5695790 c.496A>G p.R166G Substitution - Missense 2:86605405-86605405 - CHC892T COSM4797307 c.1215G>A p.W405* Substitution - Nonsense 2:86604686-86604686 - TCGA-BS-A0TJ-01 COSM1023522 c.1383G>A p.W461* Substitution - Nonsense 2:86604518-86604518 - TCGA-AP-A056-01 COSM197626 c.913G>A p.E305K Substitution - Missense 2:86604988-86604988 - LIM1215 COSM4315914 c.1639T>C p.L547L Substitution - coding silent 2:86604262-86604262 - TCGA-G4-6628-01 COSM1409855 c.564G>A p.M188I Substitution - Missense 2:86605337-86605337 - TCGA-F5-6814-01 COSM3426743 c.1101A>C p.L367F Substitution - Missense 2:86604800-86604800 - 680 COSM145876 c.1486C>T p.P496S Substitution - Missense 2:86604415-86604415 - TCGA-CA-6717-01 COSM197626 c.913G>A p.E305K Substitution - Missense 2:86604988-86604988 - AOCS-114-1-8 COSM4141287 c.738C>T p.P246P Substitution - coding silent 2:86605163-86605163 - 49M COSM5592906 c.1918G>T p.G640C Substitution - Missense 2:86603983-86603983 - TCGA-KV-A6GD-01 COSM3991491 c.839T>C p.I280T Substitution - Missense 2:86605062-86605062 - TCGA-AP-A056-01 COSM1023520 c.1626G>T p.E542D Substitution - Missense 2:86604275-86604275 - YUMOKI COSM5397547 c.1886A>G p.E629G Substitution - Missense 2:86604015-86604015 - TCGA-EE-A3AG-06 COSM3583831 c.1427T>A p.F476Y Substitution - Missense 2:86604474-86604474 - 005 COSM145875 c.182G>A p.G61E Substitution - Missense 2:86622705-86622705 - B35-Tumor COSM1752708 c.195G>C p.K65N Substitution - Missense 2:86622692-86622692 - BD72T COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - TCGA-AN-A046-01 COSM197627 c.280G>A p.E94K Substitution - Missense 2:86620416-86620416 - TCGA-GF-A6C9-06 COSM4902310 c.1982T>A p.V661D Substitution - Missense 2:86603919-86603919 - TCGA-G9-6369-01 COSM3673756 c.533C>A p.P178Q Substitution - Missense 2:86605368-86605368 - TCGA-CG-4466-01 COSM4096148 c.449G>T p.R150L Substitution - Missense 2:86612192-86612192 - SC_9008 COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - 10-P1058 COSM4583685 c.638G>A p.R213Q Substitution - Missense 2:86605263-86605263 - TCGA-EE-A20F-06 COSM3583829 c.1965C>T p.G655G Substitution - coding silent 2:86603936-86603936 - TCGA-D8-A1J8-01 COSM3840190 c.1330A>G p.N444D Substitution - Missense 2:86604571-86604571 - TCGA-FR-A3YO-06 COSM3583830 c.1904T>A p.M635K Substitution - Missense 2:86603997-86603997 - 16461 COSM5615139 c.765A>G p.I255M Substitution - Missense 2:86605136-86605136 - CSCC-45-T COSM4493039 c.408C>T p.H136H Substitution - coding silent 2:86612233-86612233 - CCK81 COSM2823201 c.888T>C p.I296I Substitution - coding silent 2:86605013-86605013 - TCGA-18-4083-01 COSM722968 c.1196C>A p.T399K Substitution - Missense 2:86604705-86604705 - PD7217a COSM5791923 c.663A>G p.E221E Substitution - coding silent 2:86605238-86605238 - PCSI_0090_Pa_X COSM3380245 c.349G>T p.G117C Substitution - Missense 2:86620347-86620347 - TCGA-G4-6628-01 COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - P-Thy001 COSM5095353 c.1769G>A p.R590K Substitution - Missense 2:86604132-86604132 - TCGA-B5-A0K2-01 COSM1023521 c.1455C>T p.D485D Substitution - coding silent 2:86604446-86604446 - TCGA-EB-A431-01 COSM3583834 c.729T>A p.L243L Substitution - coding silent 2:86605172-86605172 - PCSI_0090_Pa_P COSM3380245 c.349G>T p.G117C Substitution - Missense 2:86620347-86620347 - 587332 COSM1223881 c.2047G>A p.V683I Substitution - Missense 2:86603854-86603854 - TCGA-D1-A17Q-01 COSM197627 c.280G>A p.E94K Substitution - Missense 2:86620416-86620416 - Pat_63_B COSM5862951 c.1241C>G p.S414C Substitution - Missense 2:86604660-86604660 - RK233_C01 COSM4778538 c.558A>G p.K186K Substitution - coding silent 2:86605343-86605343 - PCSI_0083_Pa_P COSM3380244 c.1572T>C p.S524S Substitution - coding silent 2:86604329-86604329 - PCSI_0020_Pa_X COSM3380284 c.1216G>A p.V406I Substitution - Missense 2:86604685-86604685 - TCGA-A6-6780-01 COSM1409854 c.609delT p.F203fs*4 Deletion - Frameshift 2:86605292-86605292 - TCGA-AG-A002-01 COSM263364 c.1094C>A p.S365Y Substitution - Missense 2:86604807-86604807 - TCGA-A5-A0GI-01 COSM1023523 c.1198A>G p.T400A Substitution - Missense 2:86604703-86604703 - TCGA-BS-A0UF-01 COSM1023527 c.55G>A p.A19T Substitution - Missense 2:86622832-86622832 - CHC892T COSM4797307 c.1215G>A p.W405* Substitution - Nonsense 2:86604686-86604686 - T263 COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - C008 COSM5523695 c.659C>T p.A220V Substitution - Missense 2:86605242-86605242 - T3021 COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - 585223 COSM323084 c.1439C>G p.S480C Substitution - Missense 2:86604462-86604462 - 71 COSM4777742 c.811_812insG p.D272fs*13 Insertion - Frameshift 2:86605089-86605090 - ME009T COSM222697 c.1362G>A p.W454* Substitution - Nonsense 2:86604539-86604539 - TCGA-GF-A6C9-06 COSM4900959 c.389C>T p.P130L Substitution - Missense 2:86612252-86612252 - 2557_CLM COSM5756109 c.60G>T p.R20S Substitution - Missense 2:86622827-86622827 - TCGA-AF-5654-01 COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - Gp2D COSM4628107 c.1061T>C p.V354A Substitution - Missense 2:86604840-86604840 - CRC-03T COSM5451683 c.1967G>A p.R656Q Substitution - Missense 2:86603934-86603934 - TCGA-BR-4371-01 COSM4096149 c.92G>A p.G31D Substitution - Missense 2:86622795-86622795 - PD23565a COSM5790720 c.1624G>C p.E542Q Substitution - Missense 2:86604277-86604277 - P124 COSM1736794 c.872G>T p.R291I Substitution - Missense 2:86605029-86605029 - TCGA-FU-A3HZ-01 COSM197624 c.1616C>T p.S539L Substitution - Missense 2:86604285-86604285 - Pat_41_B COSM5862952 c.1207G>A p.A403T Substitution - Missense 2:86604694-86604694 - SW48 COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - PDA_100 COSM5003456 c.1843A>G p.M615V Substitution - Missense 2:86604058-86604058 - TCGA-AH-6897-01 COSM3426744 c.337G>A p.D113N Substitution - Missense 2:86620359-86620359 - TCGA-G2-A3VY-01 COSM3799255 c.953C>G p.S318* Substitution - Nonsense 2:86604948-86604948 - TCGA-BR-7707-01 COSM4096147 c.1488T>C p.P496P Substitution - coding silent 2:86604413-86604413 - SJDES007-R1 COSM4583684 c.1084A>G p.T362A Substitution - Missense 2:86604817-86604817 - T36 COSM1409853 c.2009delA p.K670fs*>16 Deletion - Frameshift 2:86603892-86603892 - TCGA-EB-A24D-01 COSM3583833 c.878C>T p.P293L Substitution - Missense 2:86605023-86605023 - TCGA-E2-A15G-01 COSM443334 c.948G>A p.L316L Substitution - coding silent 2:86604953-86604953 - TCGA-DI-A0WH-01 COSM1023518 c.1839T>C p.A613A Substitution - coding silent 2:86604062-86604062 - SJMB017 COSM255355 c.1546C>T p.R516* Substitution - Nonsense 2:86604355-86604355 - 587222 COSM1223880 c.1421A>C p.Q474P Substitution - Missense 2:86604480-86604480 - PD18247a COSM5770905 c.1096C>T p.L366L Substitution - coding silent 2:86604805-86604805 - 587284 COSM1232370 c.304A>G p.S102G Substitution - Missense 2:86620392-86620392 - 084-05-01TD COSM5417787 c.775G>A p.G259R Substitution - Missense 2:86605126-86605126 - TCGA-E2-A14P-01 COSM443333 c.1737C>T p.A579A Substitution - coding silent 2:86604164-86604164 - LS411 COSM2823168 c.1806A>C p.E602D Substitution - Missense 2:86604095-86604095 - PCSI_0083_Pa_X COSM3380244 c.1572T>C p.S524S Substitution - coding silent 2:86604329-86604329 - 8066458 COSM2823161 c.1987C>T p.R663W Substitution - Missense 2:86603914-86603914 - LUAD-NYU1051S COSM368743 c.1411G>A p.A471T Substitution - Missense 2:86604490-86604490 - SW480 COSM2823208 c.801T>C p.N267N Substitution - coding silent 2:86605100-86605100 - S02255 COSM5680702 c.1556G>T p.C519F Substitution - Missense 2:86604345-86604345 - SW620 COSM2823208 c.801T>C p.N267N Substitution - coding silent 2:86605100-86605100 - S02378 COSM5697534 c.42C>G p.V14V Substitution - coding silent 2:86622845-86622845 - TCGA-EE-A2MF-06 COSM4893231 c.1588G>A p.E530K Substitution - Missense 2:86604313-86604313 - TCGA-A2-A0T5-01 COSM3840189 c.2010G>C p.K670N Substitution - Missense 2:86603891-86603891 - B35 COSM1752708 c.195G>C p.K65N Substitution - Missense 2:86622692-86622692 - TCGA-CF-A27C-01 COSM1307070 c.629C>T p.A210V Substitution - Missense 2:86605272-86605272 - TCGA-CS-6668-01 COSM3972384 c.1815A>G p.E605E Substitution - coding silent 2:86604086-86604086 - ATL001 COSM5708351 c.594A>C p.E198D Substitution - Missense 2:86605307-86605307 - YUMER COSM1690764 c.1109C>T p.S370F Substitution - Missense 2:86604792-86604792 - BRC5 COSM5025668 c.1040G>A p.G347E Substitution - Missense 2:86604861-86604861 - TCGA-AP-A059-01 COSM1023517 c.1900C>T p.L634L Substitution - coding silent 2:86604001-86604001 - 134430 COSM326375 c.1730C>T p.S577L Substitution - Missense 2:86604171-86604171 - TCGA-AP-A0LM-01 COSM1023519 c.1817C>A p.P606H Substitution - Missense 2:86604084-86604084 - NB-1369 COSM1287648 c.142C>A p.L48M Substitution - Missense 2:86622745-86622745 - PT35 COSM5911714 c.571G>A p.E191K Substitution - Missense 2:86605330-86605330 - TCGA-D3-A3MR-06 COSM3583836 c.440T>C p.F147S Substitution - Missense 2:86612201-86612201 - ESCC_164 COSM5648269 c.877C>A p.P293T Substitution - Missense 2:86605024-86605024 - PCSI_0116_Pa_X COSM3380246 c.251A>G p.Y84C Substitution - Missense 2:86620445-86620445 - 587220 COSM1223879 c.676G>T p.E226* Substitution - Nonsense 2:86605225-86605225 - SC_9058 COSM5561970 c.736C>T p.P246S Substitution - Missense 2:86605165-86605165 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.733309;Hs.733310;Hs.733312;Hs.733314;Hs.733315;Hs.733316;Hs.733317;Hs.733318;Hs.733319 2p11.2 602507

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C621W c.1863T>G 2 86831161 HNSC A C Missense p.C658G c.1972T>G 2 86831052 CM A - Frameshift p.L378Yfs*6 c.1133delT 2 86831891 STAD - A Frameshift p.W499Lfs*9 c.1495dupT 2 86831529 LUAD A G Missense p.F147S c.440T>C 2 86839324 CM A G Missense p.V38A c.113T>C 2 86849897 CM A T Missense p.F476Y c.1427T>A 2 86831597 CM A T Missense p.S564T c.1690T>A 2 86831334 CM C A Missense p.R150L c.449G>T 2 86839315 STAD CC AA MultiAAMissense p.M79_E80delinsI* c.237_238delinsTT 2 86847581 LUAD C G Missense p.M277I c.831G>C 2 86832193 HNSC C T Missense p.C588Y c.1763G>A 2 86831261 ESCA C T Missense p.E530K c.1588G>A 2 86831436 CM C T Missense p.G281S c.841G>A 2 86832183 LUAD C T Missense p.G31D c.92G>A 2 86849918 STAD C T Missense p.G347E c.1040G>A 2 86831984 BRCA C T Missense p.G61E c.182G>A 2 86849828 CLL C T Missense p.V132M c.394G>A 2 86839370 UCEC C T Nonsense p.W454* c.1362G>A 2 86831662 CM C T Nonsense p.W461* c.1383G>A 2 86831641 UCEC G A Missense p.A210V c.629C>T 2 86832395 BLCA G A Missense p.L309F c.925C>T 2 86832099 COREAD G A Missense p.P293L c.878C>T 2 86832146 CM G A Missense p.S577L c.1730C>T 2 86831294 SCLC G A Nonsense p.W2* c.5G>A 2 86850005 GBM G C Missense p.S480C c.1439C>G 2 86831585 SCLC G T Missense p.L48M c.142C>A 2 86849868 NB G T Missense p.P178Q c.533C>A 2 86832491 PRAD G T Missense p.T399K c.1196C>A 2 86831828 LUSC T A Missense p.I149L c.445A>T 2 86839319 CM T A Missense p.N448I c.1343A>T 2 86831681 RCCC T C Missense p.I255M c.765A>G 2 86832259 NSCLC T C Missense p.T400A c.1198A>G 2 86831826 UCEC T C Missense p.Y108C c.323A>G 2 86847496 PRAD T G Missense p.N398T c.1193A>C 2 86831831 LUAD