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 ACC 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs BLCA 2 160585619 160585619 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:160585619G>A c.86G>A c.(85-87)aGa>aAa p.R29K BLCA 2 160599728 160599728 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr2:160599728G>A c.310G>A c.(310-312)Ggg>Agg p.G104R BLCA 2 160604655 160604655 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr2:160604655G>T c.854G>T c.(853-855)cGc>cTc p.R285L BLCA 2 160604796 160604796 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr2:160604796C>G c.995C>G c.(994-996)tCa>tGa p.S332* BLCA 2 160604859 160604859 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:160604859G>A c.1058G>A c.(1057-1059)cGa>cAa p.R353Q BLCA 2 160605018 160605018 + Missense_Mutation SNP G G C TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr2:160605018G>C c.1217G>C c.(1216-1218)aGa>aCa p.R406T BLCA 2 160605213 160605213 + Missense_Mutation SNP G G A TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr2:160605213G>A c.1412G>A c.(1411-1413)aGa>aAa p.R471K BLCA 2 160605378 160605378 + Nonsense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr2:160605378C>G c.1577C>G c.(1576-1578)tCa>tGa p.S526* BLCA 2 160609008 160609008 + Missense_Mutation SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr2:160609008G>A c.1709G>A c.(1708-1710)tGc>tAc p.C570Y BLCA 2 160609027 160609027 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr2:160609027G>C c.1728G>C c.(1726-1728)ttG>ttC p.L576F BLCA 2 160621181 160621181 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr2:160621181C>G c.2052C>G c.(2050-2052)ctC>ctG p.L684L BRCA 2 160585678 160585678 + Missense_Mutation SNP G G C TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 g.chr2:160585678G>C c.145G>C c.(145-147)Gaa>Caa p.E49Q BRCA 2 160604370 160604370 + Nonsense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:160604370C>G c.569C>G c.(568-570)tCa>tGa p.S190* BRCA 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs BRCA 2 160605150 160605150 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 g.chr2:160605150C>T c.1349C>T c.(1348-1350)gCa>gTa p.A450V BRCA 2 160605208 160605208 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:160605208T>G c.1407T>G c.(1405-1407)ggT>ggG p.G469G BRCA 2 160619400 160619400 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr2:160619400G>C c.1903G>C c.(1903-1905)Gag>Cag p.E635Q CESC 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-EK-A2H1-01A-11D-A17W-09 TCGA-EK-A2H1-10A-01D-A17W-09 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs COAD 2 160585571 160585571 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:160585571C>A c.38C>A c.(37-39)tCt>tAt p.S13Y COAD 2 160599647 160599647 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:160599647C>T c.229C>T c.(229-231)Cgc>Tgc p.R77C COAD 2 160602422 160602422 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:160602422G>A c.488G>A c.(487-489)cGa>cAa p.R163Q COAD 2 160604452 160604452 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:160604452C>T c.651C>T c.(649-651)gaC>gaT p.D217D COAD 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs COAD 2 160605264 160605264 + Missense_Mutation SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:160605264T>C c.1463T>C c.(1462-1464)gTc>gCc p.V488A COAD 2 160619447 160619447 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:160619447C>T c.1950C>T c.(1948-1950)tgC>tgT p.C650C COADREAD 2 160585571 160585571 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:160585571C>A c.38C>A c.(37-39)tCt>tAt p.S13Y COADREAD 2 160599647 160599647 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:160599647C>T c.229C>T c.(229-231)Cgc>Tgc p.R77C COADREAD 2 160599695 160599695 + Missense_Mutation SNP A A G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr2:160599695A>G c.277A>G c.(277-279)Aaa>Gaa p.K93E COADREAD 2 160602422 160602422 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:160602422G>A c.488G>A c.(487-489)cGa>cAa p.R163Q COADREAD 2 160604452 160604452 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:160604452C>T c.651C>T c.(649-651)gaC>gaT p.D217D COADREAD 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs COADREAD 2 160605264 160605264 + Missense_Mutation SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:160605264T>C c.1463T>C c.(1462-1464)gTc>gCc p.V488A COADREAD 2 160619447 160619447 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:160619447C>T c.1950C>T c.(1948-1950)tgC>tgT p.C650C COADREAD 2 160619487 160619487 + Missense_Mutation SNP C C G TCGA-AG-3593-01A-01W-0831-10 TCGA-AG-3593-10A-01W-0831-10 g.chr2:160619487C>G c.1990C>G c.(1990-1992)Cca>Gca p.P664A DLBC 2 160599591 160599591 + Missense_Mutation SNP C C G TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr2:160599591C>G c.173C>G c.(172-174)tCt>tGt p.S58C DLBC 2 160604781 160604781 + Missense_Mutation SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr2:160604781G>A c.980G>A c.(979-981)cGt>cAt p.R327H ESCA 2 160599647 160599647 + Missense_Mutation SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 g.chr2:160599647C>T c.229C>T c.(229-231)Cgc>Tgc p.R77C ESCA 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-IG-A4QT-01A-21D-A27G-09 TCGA-IG-A4QT-10A-02D-A27G-09 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs ESCA 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs GBMLGG 2 160599690 160599690 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:160599690G>T c.272G>T c.(271-273)aGa>aTa p.R91I GBMLGG 2 160605198 160605198 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 g.chr2:160605198C>T c.1397C>T c.(1396-1398)tCg>tTg p.S466L GBMLGG 2 160605353 160605353 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:160605353A>T c.1552A>T c.(1552-1554)Agt>Tgt p.S518C HNSC 2 160585576 160585576 + Nonsense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr2:160585576C>T c.43C>T c.(43-45)Caa>Taa p.Q15* HNSC 2 160599714 160599714 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr2:160599714G>A c.296G>A c.(295-297)tGt>tAt p.C99Y HNSC 2 160604337 160604337 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr2:160604337C>T c.536C>T c.(535-537)tCa>tTa p.S179L HNSC 2 160604745 160604745 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr2:160604745A>T c.944A>T c.(943-945)tAc>tTc p.Y315F HNSC 2 160604933 160604933 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr2:160604933G>C c.1132G>C c.(1132-1134)Gaa>Caa p.E378Q HNSC 2 160605112 160605112 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr2:160605112G>C c.1311G>C c.(1309-1311)caG>caC p.Q437H HNSC 2 160615841 160615841 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr2:160615841G>A c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K HNSC 2 160619499 160619499 + Missense_Mutation SNP G G A TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr2:160619499G>A c.2002G>A c.(2002-2004)Gtc>Atc p.V668I KIPAN 2 160585646 160585646 + Missense_Mutation SNP A A G TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr2:160585646A>G c.113A>G c.(112-114)cAc>cGc p.H38R KIRC 2 160585646 160585646 + Missense_Mutation SNP A A G TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr2:160585646A>G c.113A>G c.(112-114)cAc>cGc p.H38R LGG 2 160599690 160599690 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:160599690G>T c.272G>T c.(271-273)aGa>aTa p.R91I LGG 2 160605198 160605198 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 g.chr2:160605198C>T c.1397C>T c.(1396-1398)tCg>tTg p.S466L LGG 2 160605353 160605353 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:160605353A>T c.1552A>T c.(1552-1554)Agt>Tgt p.S518C LIHC 2 160605076 160605076 + Silent SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr2:160605076A>G c.1275A>G c.(1273-1275)agA>agG p.R425R LIHC 2 160605311 160605311 + Missense_Mutation SNP G G A TCGA-2Y-A9H0-01A-11D-A382-10 TCGA-2Y-A9H0-10A-01D-A385-10 g.chr2:160605311G>A c.1510G>A c.(1510-1512)Gta>Ata p.V504I LIHC 2 160615791 160615791 + Missense_Mutation SNP T T C TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr2:160615791T>C c.1838T>C c.(1837-1839)cTt>cCt p.L613P LUAD 2 160585554 160585554 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr2:160585554G>C c.21G>C c.(19-21)agG>agC p.R7S LUAD 2 160585672 160585672 + Missense_Mutation SNP G G T TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr2:160585672G>T c.139G>T c.(139-141)Gat>Tat p.D47Y LUAD 2 160585678 160585678 + Missense_Mutation SNP G G C TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr2:160585678G>C c.145G>C c.(145-147)Gaa>Caa p.E49Q LUAD 2 160602444 160602444 + Silent SNP A A T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr2:160602444A>T c.510A>T c.(508-510)tcA>tcT p.S170S LUAD 2 160604822 160604822 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr2:160604822G>T c.1021G>T c.(1021-1023)Gca>Tca p.A341S LUAD 2 160605020 160605020 + Missense_Mutation SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr2:160605020G>C c.1219G>C c.(1219-1221)Gat>Cat p.D407H LUAD 2 160605023 160605023 + Missense_Mutation SNP G G A TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr2:160605023G>A c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K LUAD 2 160605381 160605381 + Missense_Mutation SNP G G C TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr2:160605381G>C c.1580G>C c.(1579-1581)aGa>aCa p.R527T LUSC 2 160605213 160605213 + Missense_Mutation SNP G G A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr2:160605213G>A c.1412G>A c.(1411-1413)aGa>aAa p.R471K PAAD 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs PAAD 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs PAAD 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 g.chr2:160604680delT c.879delT c.(877-879)actfs p.T293fs PAAD 2 160605268 160605268 + Frame_Shift_Del DEL T T - TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr2:160605268delT c.1467delT c.(1465-1467)cctfs p.P490fs PAAD 2 160605292 160605292 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr2:160605292C>A c.1491C>A c.(1489-1491)acC>acA p.T497T PCPG 2 160604779 160604779 + Silent SNP C C T TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 g.chr2:160604779C>T c.978C>T c.(976-978)tcC>tcT p.S326S PRAD 2 160602322 160602322 + Missense_Mutation SNP A A G TCGA-ZG-A9L1-01A-11D-A41K-08 TCGA-ZG-A9L1-10A-01D-A41N-08 g.chr2:160602322A>G c.388A>G c.(388-390)Atg>Gtg p.M130V READ 2 160599695 160599695 + Missense_Mutation SNP A A G TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr2:160599695A>G c.277A>G c.(277-279)Aaa>Gaa p.K93E READ 2 160619487 160619487 + Missense_Mutation SNP C C G TCGA-AG-3593-01A-01W-0831-10 TCGA-AG-3593-10A-01W-0831-10 g.chr2:160619487C>G c.1990C>G c.(1990-1992)Cca>Gca p.P664A SARC 2 160604560 160604560 + Missense_Mutation SNP C C G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 g.chr2:160604560C>G c.759C>G c.(757-759)atC>atG p.I253M SKCM 2 160585558 160585558 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:160585558C>T c.25C>T c.(25-27)Cca>Tca p.P9S SKCM 2 160599677 160599677 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr2:160599677C>T c.259C>T c.(259-261)Cat>Tat p.H87Y SKCM 2 160602335 160602335 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:160602335C>T c.401C>T c.(400-402)tCa>tTa p.S134L SKCM 2 160604709 160604709 + Missense_Mutation SNP C C A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 g.chr2:160604709C>A c.908C>A c.(907-909)tCc>tAc p.S303Y SKCM 2 160604751 160604751 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:160604751C>T c.950C>T c.(949-951)tCt>tTt p.S317F SKCM 2 160604775 160604775 + Missense_Mutation SNP A A G TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr2:160604775A>G c.974A>G c.(973-975)cAg>cGg p.Q325R SKCM 2 160604791 160604791 + Silent SNP A A G TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr2:160604791A>G c.990A>G c.(988-990)gtA>gtG p.V330V SKCM 2 160604811 160604811 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr2:160604811C>T c.1010C>T c.(1009-1011)cCc>cTc p.P337L SKCM 2 160604951 160604951 + Missense_Mutation SNP C C A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:160604951C>A c.1150C>A c.(1150-1152)Cca>Aca p.P384T SKCM 2 160605065 160605065 + Missense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr2:160605065C>T c.1264C>T c.(1264-1266)Cat>Tat p.H422Y SKCM 2 160605239 160605239 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr2:160605239C>T c.1438C>T c.(1438-1440)Cct>Tct p.P480S SKCM 2 160605324 160605324 + Missense_Mutation SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr2:160605324C>T c.1523C>T c.(1522-1524)cCt>cTt p.P508L

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 2 160599728 160599728 single base substitution G A downstream_gene_variant BLCA-US 2 160599728 160599728 single base substitution G A exon_variant BLCA-US 2 160599728 160599728 single base substitution G A missense_variant G104R 310G>A BLCA-US 2 160599728 160599728 single base substitution G A missense_variant G66R 196G>A BLCA-US 2 160599728 160599728 single base substitution G A upstream_gene_variant BLCA-US 2 160604796 160604796 single base substitution C G downstream_gene_variant BLCA-US 2 160604796 160604796 single base substitution C G intron_variant BLCA-US 2 160604796 160604796 single base substitution C G stop_gained S276* 827C>G BLCA-US 2 160604796 160604796 single base substitution C G stop_gained S294* 881C>G BLCA-US 2 160604796 160604796 single base substitution C G stop_gained S332* 995C>G BLCA-US 2 160604796 160604796 single base substitution C G upstream_gene_variant BLCA-US 2 160609027 160609027 single base substitution G C downstream_gene_variant BLCA-US 2 160609027 160609027 single base substitution G C exon_variant BLCA-US 2 160609027 160609027 single base substitution G C missense_variant L520F 1560G>C BLCA-US 2 160609027 160609027 single base substitution G C missense_variant L538F 1614G>C BLCA-US 2 160609027 160609027 single base substitution G C missense_variant L576F 1728G>C BLCA-US 2 160609027 160609027 single base substitution G C missense_variant L9F 27G>C BLCA-US 2 160628465 160628465 single base substitution G T downstream_gene_variant BOCA-FR 2 160621011 160621011 single base substitution A C intron_variant BRCA-EU 2 160565550 160565550 single base substitution G T upstream_gene_variant BRCA-EU 2 160565560 160565560 single base substitution G C upstream_gene_variant BRCA-EU 2 160568766 160568766 single base substitution G A upstream_gene_variant BRCA-EU 2 160569132 160569132 single base substitution G A 5_prime_UTR_variant BRCA-EU 2 160569132 160569132 single base substitution G A exon_variant BRCA-EU 2 160569132 160569132 single base substitution G A intron_variant BRCA-EU 2 160569615 160569615 single base substitution C A intron_variant BRCA-EU 2 160570282 160570282 single base substitution A G intron_variant BRCA-EU 2 160572211 160572211 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 160572211 160572211 single base substitution C T intron_variant BRCA-EU 2 160572586 160572586 single base substitution G C intron_variant BRCA-EU 2 160575399 160575399 single base substitution A G intron_variant BRCA-EU 2 160578816 160578816 single base substitution T A intron_variant BRCA-EU 2 160579216 160579216 deletion of <=200bp T - intron_variant BRCA-EU 2 160580337 160580337 single base substitution T G intron_variant BRCA-EU 2 160580429 160580429 single base substitution G A intron_variant BRCA-EU 2 160580647 160580647 single base substitution C T intron_variant BRCA-EU 2 160580760 160580760 single base substitution C T intron_variant BRCA-EU 2 160581643 160581643 single base substitution A T intron_variant BRCA-EU 2 160584515 160584515 single base substitution A C intron_variant BRCA-EU 2 160584947 160584947 single base substitution A G intron_variant BRCA-EU 2 160585217 160585217 single base substitution A T intron_variant BRCA-EU 2 160585750 160585750 single base substitution G T intron_variant BRCA-EU 2 160585750 160585750 single base substitution G T upstream_gene_variant BRCA-EU 2 160586272 160586272 single base substitution A G intron_variant BRCA-EU 2 160586272 160586272 single base substitution A G upstream_gene_variant BRCA-EU 2 160588615 160588615 insertion of <=200bp - A intron_variant BRCA-EU 2 160588615 160588615 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 160588778 160588778 single base substitution T C intron_variant BRCA-EU 2 160588778 160588778 single base substitution T C upstream_gene_variant BRCA-EU 2 160590551 160590551 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 160590551 160590551 single base substitution T A intron_variant BRCA-EU 2 160590552 160590552 single base substitution T A 5_prime_UTR_variant BRCA-EU 2 160590552 160590552 single base substitution T A intron_variant BRCA-EU 2 160592539 160592539 single base substitution G A intron_variant BRCA-EU 2 160593062 160593064 deletion of <=200bp CTT - intron_variant BRCA-EU 2 160594306 160594306 insertion of <=200bp - A intron_variant BRCA-EU 2 160594860 160594860 single base substitution C T intron_variant BRCA-EU 2 160595274 160595274 single base substitution G A intron_variant BRCA-EU 2 160595521 160595521 single base substitution C T intron_variant BRCA-EU 2 160595644 160595644 single base substitution G T intron_variant BRCA-EU 2 160596171 160596171 deletion of <=200bp A - intron_variant BRCA-EU 2 160598659 160598659 single base substitution G A intron_variant BRCA-EU 2 160598659 160598659 single base substitution G A upstream_gene_variant BRCA-EU 2 160598700 160598704 deletion of <=200bp TAAAA - intron_variant BRCA-EU 2 160598700 160598704 deletion of <=200bp TAAAA - upstream_gene_variant BRCA-EU 2 160598749 160598749 single base substitution G C intron_variant BRCA-EU 2 160598749 160598749 single base substitution G C upstream_gene_variant BRCA-EU 2 160598767 160598767 single base substitution T G intron_variant BRCA-EU 2 160598767 160598767 single base substitution T G upstream_gene_variant BRCA-EU 2 160599404 160599404 insertion of <=200bp - C intron_variant BRCA-EU 2 160599404 160599404 insertion of <=200bp - C upstream_gene_variant BRCA-EU 2 160602059 160602059 single base substitution C T downstream_gene_variant BRCA-EU 2 160602059 160602059 single base substitution C T intron_variant BRCA-EU 2 160602059 160602059 single base substitution C T upstream_gene_variant BRCA-EU 2 160603789 160603789 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 160603789 160603789 deletion of <=200bp A - intron_variant BRCA-EU 2 160604389 160604389 single base substitution G C downstream_gene_variant BRCA-EU 2 160604389 160604389 single base substitution G C exon_variant BRCA-EU 2 160604389 160604389 single base substitution G C intron_variant BRCA-EU 2 160604389 160604389 single base substitution G C missense_variant L140F 420G>C BRCA-EU 2 160604389 160604389 single base substitution G C missense_variant L158F 474G>C BRCA-EU 2 160604389 160604389 single base substitution G C missense_variant L196F 588G>C BRCA-EU 2 160604389 160604389 single base substitution G C upstream_gene_variant BRCA-EU 2 160605194 160605194 single base substitution G T downstream_gene_variant BRCA-EU 2 160605194 160605194 single base substitution G T intron_variant BRCA-EU 2 160605194 160605194 single base substitution G T missense_variant D409Y 1225G>T BRCA-EU 2 160605194 160605194 single base substitution G T missense_variant D427Y 1279G>T BRCA-EU 2 160605194 160605194 single base substitution G T missense_variant D465Y 1393G>T BRCA-EU 2 160605194 160605194 single base substitution G T upstream_gene_variant BRCA-EU 2 160605635 160605635 single base substitution G A downstream_gene_variant BRCA-EU 2 160605635 160605635 single base substitution G A intron_variant BRCA-EU 2 160605635 160605635 single base substitution G A upstream_gene_variant BRCA-EU 2 160605714 160605714 single base substitution C G downstream_gene_variant BRCA-EU 2 160605714 160605714 single base substitution C G intron_variant BRCA-EU 2 160605714 160605714 single base substitution C G upstream_gene_variant BRCA-EU 2 160606205 160606205 single base substitution A G downstream_gene_variant BRCA-EU 2 160606205 160606205 single base substitution A G intron_variant BRCA-EU 2 160606205 160606205 single base substitution A G upstream_gene_variant BRCA-EU 2 160607378 160607378 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 160607378 160607378 deletion of <=200bp T - intron_variant BRCA-EU 2 160607378 160607378 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 160609226 160609226 single base substitution G C downstream_gene_variant BRCA-EU 2 160609226 160609226 single base substitution G C intron_variant BRCA-EU 2 160609301 160609301 single base substitution A G downstream_gene_variant BRCA-EU 2 160609301 160609301 single base substitution A G intron_variant BRCA-EU 2 160609772 160609772 single base substitution C T downstream_gene_variant BRCA-EU 2 160609772 160609772 single base substitution C T intron_variant BRCA-EU 2 160610936 160610936 single base substitution A G downstream_gene_variant BRCA-EU 2 160610936 160610936 single base substitution A G intron_variant BRCA-EU 2 160610936 160610936 single base substitution A G upstream_gene_variant BRCA-EU 2 160610956 160610956 single base substitution A C downstream_gene_variant BRCA-EU 2 160610956 160610956 single base substitution A C intron_variant BRCA-EU 2 160610956 160610956 single base substitution A C upstream_gene_variant BRCA-EU 2 160611658 160611658 single base substitution A T downstream_gene_variant BRCA-EU 2 160611658 160611658 single base substitution A T intron_variant BRCA-EU 2 160611658 160611658 single base substitution A T upstream_gene_variant BRCA-EU 2 160613654 160613654 single base substitution C A downstream_gene_variant BRCA-EU 2 160613654 160613654 single base substitution C A intron_variant BRCA-EU 2 160613654 160613654 single base substitution C A upstream_gene_variant BRCA-EU 2 160614813 160614813 single base substitution G A intron_variant BRCA-EU 2 160614813 160614813 single base substitution G A upstream_gene_variant BRCA-EU 2 160615412 160615412 single base substitution G C intron_variant BRCA-EU 2 160615412 160615412 single base substitution G C upstream_gene_variant BRCA-EU 2 160616774 160616774 single base substitution G C intron_variant BRCA-EU 2 160617209 160617209 single base substitution C A intron_variant BRCA-EU 2 160618518 160618518 single base substitution C A intron_variant BRCA-EU 2 160618527 160618527 single base substitution G C intron_variant BRCA-EU 2 160618829 160618829 single base substitution G A intron_variant BRCA-EU 2 160619184 160619184 single base substitution G C intron_variant BRCA-EU 2 160619400 160619400 single base substitution G C exon_variant BRCA-EU 2 160619400 160619400 single base substitution G C missense_variant E579Q 1735G>C BRCA-EU 2 160619400 160619400 single base substitution G C missense_variant E597Q 1789G>C BRCA-EU 2 160619400 160619400 single base substitution G C missense_variant E635Q 1903G>C BRCA-EU 2 160619400 160619400 single base substitution G C missense_variant E68Q 202G>C BRCA-EU 2 160619577 160619577 single base substitution C T intron_variant BRCA-EU 2 160620419 160620419 single base substitution C T intron_variant BRCA-EU 2 160621017 160621017 single base substitution A C intron_variant BRCA-EU 2 160621158 160621158 single base substitution C G exon_variant BRCA-EU 2 160621158 160621158 single base substitution C G intron_variant BRCA-EU 2 160621158 160621158 single base substitution C G missense_variant L639V 1915C>G BRCA-EU 2 160621158 160621158 single base substitution C G missense_variant L677V 2029C>G BRCA-EU 2 160621255 160621255 single base substitution A G intron_variant BRCA-EU 2 160621602 160621602 single base substitution C T intron_variant BRCA-EU 2 160623202 160623202 single base substitution G A intron_variant BRCA-EU 2 160625980 160625980 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 160625980 160625980 single base substitution C G downstream_gene_variant BRCA-EU 2 160627754 160627754 single base substitution C T downstream_gene_variant BRCA-EU 2 160628275 160628275 single base substitution C A downstream_gene_variant BRCA-EU 2 160629333 160629333 single base substitution T G downstream_gene_variant BRCA-EU 2 160629734 160629734 single base substitution A T downstream_gene_variant BRCA-EU 2 160632002 160632002 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 160632139 160632139 single base substitution A G downstream_gene_variant BRCA-FR 2 160579308 160579308 single base substitution A G intron_variant BRCA-FR 2 160586272 160586272 single base substitution A G intron_variant BRCA-FR 2 160586272 160586272 single base substitution A G upstream_gene_variant BRCA-FR 2 160586956 160586956 single base substitution A G intron_variant BRCA-FR 2 160586956 160586956 single base substitution A G upstream_gene_variant BRCA-FR 2 160590551 160590551 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 2 160590551 160590551 single base substitution T A intron_variant BRCA-FR 2 160590552 160590552 single base substitution T A 5_prime_UTR_variant BRCA-FR 2 160590552 160590552 single base substitution T A intron_variant BRCA-FR 2 160592539 160592539 single base substitution G A intron_variant BRCA-FR 2 160594860 160594860 single base substitution C T intron_variant BRCA-FR 2 160602059 160602059 single base substitution C T downstream_gene_variant BRCA-FR 2 160602059 160602059 single base substitution C T intron_variant BRCA-FR 2 160602059 160602059 single base substitution C T upstream_gene_variant BRCA-FR 2 160604389 160604389 single base substitution G C downstream_gene_variant BRCA-FR 2 160604389 160604389 single base substitution G C exon_variant BRCA-FR 2 160604389 160604389 single base substitution G C intron_variant BRCA-FR 2 160604389 160604389 single base substitution G C missense_variant L140F 420G>C BRCA-FR 2 160604389 160604389 single base substitution G C missense_variant L158F 474G>C BRCA-FR 2 160604389 160604389 single base substitution G C missense_variant L196F 588G>C BRCA-FR 2 160604389 160604389 single base substitution G C upstream_gene_variant BRCA-FR 2 160605194 160605194 single base substitution G T downstream_gene_variant BRCA-FR 2 160605194 160605194 single base substitution G T intron_variant BRCA-FR 2 160605194 160605194 single base substitution G T missense_variant D409Y 1225G>T BRCA-FR 2 160605194 160605194 single base substitution G T missense_variant D427Y 1279G>T BRCA-FR 2 160605194 160605194 single base substitution G T missense_variant D465Y 1393G>T BRCA-FR 2 160605194 160605194 single base substitution G T upstream_gene_variant BRCA-FR 2 160606205 160606205 single base substitution A G downstream_gene_variant BRCA-FR 2 160606205 160606205 single base substitution A G intron_variant BRCA-FR 2 160606205 160606205 single base substitution A G upstream_gene_variant BRCA-FR 2 160609226 160609226 single base substitution G C downstream_gene_variant BRCA-FR 2 160609226 160609226 single base substitution G C intron_variant BRCA-FR 2 160615412 160615412 single base substitution G C intron_variant BRCA-FR 2 160615412 160615412 single base substitution G C upstream_gene_variant BRCA-FR 2 160619577 160619577 single base substitution C T intron_variant BRCA-FR 2 160623202 160623202 single base substitution G A intron_variant BRCA-UK 2 160570103 160570103 single base substitution G C intron_variant BRCA-UK 2 160581002 160581002 single base substitution G C intron_variant BRCA-UK 2 160598659 160598659 single base substitution G A intron_variant BRCA-UK 2 160598659 160598659 single base substitution G A upstream_gene_variant BRCA-UK 2 160613654 160613654 single base substitution C A downstream_gene_variant BRCA-UK 2 160613654 160613654 single base substitution C A intron_variant BRCA-UK 2 160613654 160613654 single base substitution C A upstream_gene_variant BRCA-US 2 160585678 160585678 single base substitution G C exon_variant BRCA-US 2 160585678 160585678 single base substitution G C missense_variant E49Q 145G>C BRCA-US 2 160585678 160585678 single base substitution G C upstream_gene_variant BRCA-US 2 160604370 160604370 single base substitution C G downstream_gene_variant BRCA-US 2 160604370 160604370 single base substitution C G exon_variant BRCA-US 2 160604370 160604370 single base substitution C G intron_variant BRCA-US 2 160604370 160604370 single base substitution C G stop_gained S134* 401C>G BRCA-US 2 160604370 160604370 single base substitution C G stop_gained S152* 455C>G BRCA-US 2 160604370 160604370 single base substitution C G stop_gained S190* 569C>G BRCA-US 2 160604370 160604370 single base substitution C G upstream_gene_variant BRCA-US 2 160604680 160604680 deletion of <=200bp T - downstream_gene_variant BRCA-US 2 160604680 160604680 deletion of <=200bp T - frameshift_variant T237 BRCA-US 2 160604680 160604680 deletion of <=200bp T - frameshift_variant T255 BRCA-US 2 160604680 160604680 deletion of <=200bp T - frameshift_variant T293 BRCA-US 2 160604680 160604680 deletion of <=200bp T - intron_variant BRCA-US 2 160604680 160604680 deletion of <=200bp T - upstream_gene_variant BRCA-US 2 160605150 160605150 single base substitution C T downstream_gene_variant BRCA-US 2 160605150 160605150 single base substitution C T intron_variant BRCA-US 2 160605150 160605150 single base substitution C T missense_variant A394V 1181C>T BRCA-US 2 160605150 160605150 single base substitution C T missense_variant A412V 1235C>T BRCA-US 2 160605150 160605150 single base substitution C T missense_variant A450V 1349C>T BRCA-US 2 160605150 160605150 single base substitution C T upstream_gene_variant BRCA-US 2 160605208 160605208 single base substitution T G downstream_gene_variant BRCA-US 2 160605208 160605208 single base substitution T G intron_variant BRCA-US 2 160605208 160605208 single base substitution T G synonymous_variant G413G 1239T>G BRCA-US 2 160605208 160605208 single base substitution T G synonymous_variant G431G 1293T>G BRCA-US 2 160605208 160605208 single base substitution T G synonymous_variant G469G 1407T>G BRCA-US 2 160605208 160605208 single base substitution T G upstream_gene_variant BRCA-US 2 160619400 160619400 single base substitution G C exon_variant BRCA-US 2 160619400 160619400 single base substitution G C missense_variant E579Q 1735G>C BRCA-US 2 160619400 160619400 single base substitution G C missense_variant E597Q 1789G>C BRCA-US 2 160619400 160619400 single base substitution G C missense_variant E635Q 1903G>C BRCA-US 2 160619400 160619400 single base substitution G C missense_variant E68Q 202G>C BRCA-US 2 160628389 160628391 deletion of <=200bp TTC - downstream_gene_variant BTCA-JP 2 160602258 160602258 single base substitution A G downstream_gene_variant BTCA-JP 2 160602258 160602258 single base substitution A G intron_variant BTCA-JP 2 160602258 160602258 single base substitution A G upstream_gene_variant BTCA-JP 2 160602324 160602324 single base substitution G T downstream_gene_variant BTCA-JP 2 160602324 160602324 single base substitution G T exon_variant BTCA-JP 2 160602324 160602324 single base substitution G T intron_variant BTCA-JP 2 160602324 160602324 single base substitution G T missense_variant M130I 390G>T BTCA-JP 2 160602324 160602324 single base substitution G T missense_variant M92I 276G>T BTCA-JP 2 160604544 160604544 single base substitution G C downstream_gene_variant BTCA-JP 2 160604544 160604544 single base substitution G C exon_variant BTCA-JP 2 160604544 160604544 single base substitution G C intron_variant BTCA-JP 2 160604544 160604544 single base substitution G C missense_variant R192T 575G>C BTCA-JP 2 160604544 160604544 single base substitution G C missense_variant R210T 629G>C BTCA-JP 2 160604544 160604544 single base substitution G C missense_variant R248T 743G>C BTCA-JP 2 160604544 160604544 single base substitution G C upstream_gene_variant BTCA-JP 2 160604687 160604687 single base substitution T C downstream_gene_variant BTCA-JP 2 160604687 160604687 single base substitution T C intron_variant BTCA-JP 2 160604687 160604687 single base substitution T C missense_variant S240P 718T>C BTCA-JP 2 160604687 160604687 single base substitution T C missense_variant S258P 772T>C BTCA-JP 2 160604687 160604687 single base substitution T C missense_variant S296P 886T>C BTCA-JP 2 160604687 160604687 single base substitution T C upstream_gene_variant BTCA-JP 2 160608931 160608933 deletion of <=200bp AGA - downstream_gene_variant BTCA-JP 2 160608931 160608933 deletion of <=200bp AGA - exon_variant BTCA-JP 2 160608931 160608933 deletion of <=200bp AGA - inframe_deletion SE488S BTCA-JP 2 160608931 160608933 deletion of <=200bp AGA - inframe_deletion SE506S BTCA-JP 2 160608931 160608933 deletion of <=200bp AGA - inframe_deletion SE544S BTCA-JP 2 160608931 160608933 deletion of <=200bp AGA - upstream_gene_variant CESC-US 2 160604680 160604680 deletion of <=200bp T - downstream_gene_variant CESC-US 2 160604680 160604680 deletion of <=200bp T - frameshift_variant T237 CESC-US 2 160604680 160604680 deletion of <=200bp T - frameshift_variant T255 CESC-US 2 160604680 160604680 deletion of <=200bp T - frameshift_variant T293 CESC-US 2 160604680 160604680 deletion of <=200bp T - intron_variant CESC-US 2 160604680 160604680 deletion of <=200bp T - upstream_gene_variant CLLE-ES 2 160586869 160586869 single base substitution A T intron_variant CLLE-ES 2 160586869 160586869 single base substitution A T upstream_gene_variant CLLE-ES 2 160628351 160628351 single base substitution T C downstream_gene_variant COAD-US 2 160585571 160585571 single base substitution C A exon_variant COAD-US 2 160585571 160585571 single base substitution C A missense_variant S13Y 38C>A COAD-US 2 160585571 160585571 single base substitution C A upstream_gene_variant COAD-US 2 160604452 160604452 single base substitution C T downstream_gene_variant COAD-US 2 160604452 160604452 single base substitution C T exon_variant COAD-US 2 160604452 160604452 single base substitution C T intron_variant COAD-US 2 160604452 160604452 single base substitution C T synonymous_variant D161D 483C>T COAD-US 2 160604452 160604452 single base substitution C T synonymous_variant D179D 537C>T COAD-US 2 160604452 160604452 single base substitution C T synonymous_variant D217D 651C>T COAD-US 2 160604452 160604452 single base substitution C T upstream_gene_variant COAD-US 2 160604812 160604812 single base substitution C T downstream_gene_variant COAD-US 2 160604812 160604812 single base substitution C T intron_variant COAD-US 2 160604812 160604812 single base substitution C T synonymous_variant P281P 843C>T COAD-US 2 160604812 160604812 single base substitution C T synonymous_variant P299P 897C>T COAD-US 2 160604812 160604812 single base substitution C T synonymous_variant P337P 1011C>T COAD-US 2 160604812 160604812 single base substitution C T upstream_gene_variant COAD-US 2 160604936 160604936 single base substitution G A downstream_gene_variant COAD-US 2 160604936 160604936 single base substitution G A intron_variant COAD-US 2 160604936 160604936 single base substitution G A missense_variant G323S 967G>A COAD-US 2 160604936 160604936 single base substitution G A missense_variant G341S 1021G>A COAD-US 2 160604936 160604936 single base substitution G A missense_variant G379S 1135G>A COAD-US 2 160604936 160604936 single base substitution G A upstream_gene_variant COAD-US 2 160605264 160605264 single base substitution T C downstream_gene_variant COAD-US 2 160605264 160605264 single base substitution T C intron_variant COAD-US 2 160605264 160605264 single base substitution T C missense_variant V432A 1295T>C COAD-US 2 160605264 160605264 single base substitution T C missense_variant V450A 1349T>C COAD-US 2 160605264 160605264 single base substitution T C missense_variant V488A 1463T>C COAD-US 2 160605264 160605264 single base substitution T C upstream_gene_variant COAD-US 2 160628500 160628500 single base substitution T A downstream_gene_variant COCA-CN 2 160590364 160590364 single base substitution A G intron_variant COCA-CN 2 160590364 160590364 single base substitution A G upstream_gene_variant COCA-CN 2 160599555 160599555 single base substitution T A intron_variant COCA-CN 2 160599555 160599555 single base substitution T A upstream_gene_variant COCA-CN 2 160604846 160604846 single base substitution C T downstream_gene_variant COCA-CN 2 160604846 160604846 single base substitution C T intron_variant COCA-CN 2 160604846 160604846 single base substitution C T stop_gained R293* 877C>T COCA-CN 2 160604846 160604846 single base substitution C T stop_gained R311* 931C>T COCA-CN 2 160604846 160604846 single base substitution C T stop_gained R349* 1045C>T COCA-CN 2 160604846 160604846 single base substitution C T upstream_gene_variant COCA-CN 2 160605484 160605484 single base substitution C T downstream_gene_variant COCA-CN 2 160605484 160605484 single base substitution C T intron_variant COCA-CN 2 160605484 160605484 single base substitution C T upstream_gene_variant COCA-CN 2 160619279 160619279 single base substitution G A intron_variant COCA-CN 2 160619596 160619596 single base substitution T C intron_variant COCA-CN 2 160623590 160623590 single base substitution G A intron_variant COCA-CN 2 160623748 160623748 single base substitution T G intron_variant ESAD-UK 2 160564456 160564456 single base substitution T G upstream_gene_variant ESAD-UK 2 160565096 160565096 single base substitution A C upstream_gene_variant ESAD-UK 2 160567791 160567791 single base substitution A G upstream_gene_variant ESAD-UK 2 160569569 160569569 single base substitution G T intron_variant ESAD-UK 2 160570745 160570745 single base substitution C A intron_variant ESAD-UK 2 160572650 160572650 deletion of <=200bp T - intron_variant ESAD-UK 2 160575688 160575688 single base substitution C T intron_variant ESAD-UK 2 160579495 160579495 single base substitution G A intron_variant ESAD-UK 2 160581245 160581245 single base substitution C T intron_variant ESAD-UK 2 160581246 160581246 single base substitution A G intron_variant ESAD-UK 2 160583092 160583092 single base substitution A C intron_variant ESAD-UK 2 160583872 160583872 single base substitution G A intron_variant ESAD-UK 2 160583886 160583886 single base substitution C A intron_variant ESAD-UK 2 160586226 160586226 single base substitution C T intron_variant ESAD-UK 2 160586226 160586226 single base substitution C T upstream_gene_variant ESAD-UK 2 160588338 160588338 single base substitution G A intron_variant ESAD-UK 2 160588338 160588338 single base substitution G A upstream_gene_variant ESAD-UK 2 160588844 160588844 single base substitution A G intron_variant ESAD-UK 2 160588844 160588844 single base substitution A G upstream_gene_variant ESAD-UK 2 160592137 160592137 single base substitution A G intron_variant ESAD-UK 2 160597661 160597661 single base substitution G A intron_variant ESAD-UK 2 160597661 160597661 single base substitution G A upstream_gene_variant ESAD-UK 2 160598536 160598536 single base substitution T A intron_variant ESAD-UK 2 160598536 160598536 single base substitution T A upstream_gene_variant ESAD-UK 2 160600259 160600259 insertion of <=200bp - G downstream_gene_variant ESAD-UK 2 160600259 160600259 insertion of <=200bp - G intron_variant ESAD-UK 2 160600259 160600259 insertion of <=200bp - G upstream_gene_variant ESAD-UK 2 160601616 160601616 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 160601616 160601616 deletion of <=200bp T - intron_variant ESAD-UK 2 160601616 160601616 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 160601682 160601682 single base substitution G T downstream_gene_variant ESAD-UK 2 160601682 160601682 single base substitution G T intron_variant ESAD-UK 2 160601682 160601682 single base substitution G T upstream_gene_variant ESAD-UK 2 160602168 160602168 insertion of <=200bp - AAT downstream_gene_variant ESAD-UK 2 160602168 160602168 insertion of <=200bp - AAT intron_variant ESAD-UK 2 160602168 160602168 insertion of <=200bp - AAT upstream_gene_variant ESAD-UK 2 160603014 160603014 single base substitution G A downstream_gene_variant ESAD-UK 2 160603014 160603014 single base substitution G A intron_variant ESAD-UK 2 160603595 160603595 single base substitution A T downstream_gene_variant ESAD-UK 2 160603595 160603595 single base substitution A T intron_variant ESAD-UK 2 160606894 160606894 single base substitution G A downstream_gene_variant ESAD-UK 2 160606894 160606894 single base substitution G A intron_variant ESAD-UK 2 160606894 160606894 single base substitution G A upstream_gene_variant ESAD-UK 2 160607008 160607008 single base substitution C G downstream_gene_variant ESAD-UK 2 160607008 160607008 single base substitution C G intron_variant ESAD-UK 2 160607008 160607008 single base substitution C G upstream_gene_variant ESAD-UK 2 160607952 160607952 single base substitution A G downstream_gene_variant ESAD-UK 2 160607952 160607952 single base substitution A G intron_variant ESAD-UK 2 160607952 160607952 single base substitution A G upstream_gene_variant ESAD-UK 2 160608929 160608929 single base substitution T G downstream_gene_variant ESAD-UK 2 160608929 160608929 single base substitution T G exon_variant ESAD-UK 2 160608929 160608929 single base substitution T G missense_variant S488A 1462T>G ESAD-UK 2 160608929 160608929 single base substitution T G missense_variant S506A 1516T>G ESAD-UK 2 160608929 160608929 single base substitution T G missense_variant S544A 1630T>G ESAD-UK 2 160608929 160608929 single base substitution T G upstream_gene_variant ESAD-UK 2 160609107 160609107 single base substitution C A downstream_gene_variant ESAD-UK 2 160609107 160609107 single base substitution C A intron_variant ESAD-UK 2 160611744 160611744 single base substitution G A downstream_gene_variant ESAD-UK 2 160611744 160611744 single base substitution G A intron_variant ESAD-UK 2 160611744 160611744 single base substitution G A upstream_gene_variant ESAD-UK 2 160612259 160612259 single base substitution C T downstream_gene_variant ESAD-UK 2 160612259 160612259 single base substitution C T intron_variant ESAD-UK 2 160612259 160612259 single base substitution C T upstream_gene_variant ESAD-UK 2 160613707 160613707 single base substitution C T downstream_gene_variant ESAD-UK 2 160613707 160613707 single base substitution C T intron_variant ESAD-UK 2 160613707 160613707 single base substitution C T upstream_gene_variant ESAD-UK 2 160614512 160614512 single base substitution G A intron_variant ESAD-UK 2 160614512 160614512 single base substitution G A upstream_gene_variant ESAD-UK 2 160616930 160616930 single base substitution G A intron_variant ESAD-UK 2 160618876 160618876 single base substitution T C intron_variant ESAD-UK 2 160619356 160619356 single base substitution A G intron_variant ESAD-UK 2 160620272 160620272 single base substitution A C intron_variant ESAD-UK 2 160624893 160624893 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 160624893 160624893 single base substitution T C downstream_gene_variant ESAD-UK 2 160627597 160627597 single base substitution G C downstream_gene_variant ESAD-UK 2 160627873 160627873 single base substitution A G downstream_gene_variant ESAD-UK 2 160628516 160628516 single base substitution A C downstream_gene_variant ESAD-UK 2 160630882 160630884 deletion of <=200bp TTC - downstream_gene_variant ESAD-UK 2 160631772 160631775 deletion of <=200bp TACA - downstream_gene_variant GACA-CN 2 160605020 160605020 single base substitution G T downstream_gene_variant GACA-CN 2 160605020 160605020 single base substitution G T intron_variant GACA-CN 2 160605020 160605020 single base substitution G T missense_variant D351Y 1051G>T GACA-CN 2 160605020 160605020 single base substitution G T missense_variant D369Y 1105G>T GACA-CN 2 160605020 160605020 single base substitution G T missense_variant D407Y 1219G>T GACA-CN 2 160605020 160605020 single base substitution G T upstream_gene_variant KIRC-US 2 160585646 160585646 single base substitution A G exon_variant KIRC-US 2 160585646 160585646 single base substitution A G missense_variant H38R 113A>G KIRC-US 2 160585646 160585646 single base substitution A G upstream_gene_variant KIRC-US 2 160628387 160628387 single base substitution T C downstream_gene_variant LAML-KR 2 160601007 160601007 single base substitution A G downstream_gene_variant LAML-KR 2 160601007 160601007 single base substitution A G intron_variant LAML-KR 2 160601007 160601007 single base substitution A G upstream_gene_variant LAML-KR 2 160621336 160621336 single base substitution G T intron_variant LICA-CN 2 160605365 160605365 single base substitution A T downstream_gene_variant LICA-CN 2 160605365 160605365 single base substitution A T intron_variant LICA-CN 2 160605365 160605365 single base substitution A T stop_gained K466* 1396A>T LICA-CN 2 160605365 160605365 single base substitution A T stop_gained K484* 1450A>T LICA-CN 2 160605365 160605365 single base substitution A T stop_gained K522* 1564A>T LICA-CN 2 160605365 160605365 single base substitution A T upstream_gene_variant LICA-FR 2 160569811 160569811 insertion of <=200bp - T intron_variant LICA-FR 2 160588663 160588663 single base substitution A G intron_variant LICA-FR 2 160588663 160588663 single base substitution A G upstream_gene_variant LICA-FR 2 160591877 160591877 single base substitution G A intron_variant LICA-FR 2 160604636 160604636 single base substitution A G downstream_gene_variant LICA-FR 2 160604636 160604636 single base substitution A G exon_variant LICA-FR 2 160604636 160604636 single base substitution A G intron_variant LICA-FR 2 160604636 160604636 single base substitution A G missense_variant T223A 667A>G LICA-FR 2 160604636 160604636 single base substitution A G missense_variant T241A 721A>G LICA-FR 2 160604636 160604636 single base substitution A G missense_variant T279A 835A>G LICA-FR 2 160604636 160604636 single base substitution A G upstream_gene_variant LICA-FR 2 160619557 160619557 single base substitution C G intron_variant LICA-FR 2 160628520 160628520 single base substitution T C downstream_gene_variant LICA-FR 2 160628630 160628630 single base substitution T A downstream_gene_variant LIHC-US 2 160615791 160615791 single base substitution T C missense_variant L46P 137T>C LIHC-US 2 160615791 160615791 single base substitution T C missense_variant L557P 1670T>C LIHC-US 2 160615791 160615791 single base substitution T C missense_variant L575P 1724T>C LIHC-US 2 160615791 160615791 single base substitution T C missense_variant L613P 1838T>C LIHC-US 2 160615791 160615791 single base substitution T C upstream_gene_variant LINC-JP 2 160575898 160575898 single base substitution A G intron_variant LINC-JP 2 160612058 160612058 single base substitution A G downstream_gene_variant LINC-JP 2 160612058 160612058 single base substitution A G intron_variant LINC-JP 2 160612058 160612058 single base substitution A G upstream_gene_variant LINC-JP 2 160615780 160615780 single base substitution G C missense_variant E42D 126G>C LINC-JP 2 160615780 160615780 single base substitution G C missense_variant E553D 1659G>C LINC-JP 2 160615780 160615780 single base substitution G C missense_variant E571D 1713G>C LINC-JP 2 160615780 160615780 single base substitution G C missense_variant E609D 1827G>C LINC-JP 2 160615780 160615780 single base substitution G C upstream_gene_variant LINC-JP 2 160615939 160615939 single base substitution A T intron_variant LINC-JP 2 160620856 160620856 single base substitution T A intron_variant LINC-JP 2 160624086 160624086 single base substitution A G 3_prime_UTR_variant LINC-JP 2 160624086 160624086 single base substitution A G downstream_gene_variant LINC-JP 2 160624086 160624086 single base substitution A G exon_variant LINC-JP 2 160625716 160625716 single base substitution T C 3_prime_UTR_variant LINC-JP 2 160625716 160625716 single base substitution T C downstream_gene_variant LINC-JP 2 160627363 160627363 single base substitution A C 3_prime_UTR_variant LINC-JP 2 160627363 160627363 single base substitution A C downstream_gene_variant LIRI-JP 2 160565114 160565114 single base substitution A G upstream_gene_variant LIRI-JP 2 160566996 160566996 single base substitution G A upstream_gene_variant LIRI-JP 2 160567966 160567966 single base substitution C A upstream_gene_variant LIRI-JP 2 160571269 160571269 single base substitution C T intron_variant LIRI-JP 2 160574308 160574308 single base substitution A G intron_variant LIRI-JP 2 160576162 160576162 single base substitution T A intron_variant LIRI-JP 2 160576776 160576776 single base substitution C A intron_variant LIRI-JP 2 160578394 160578394 single base substitution C T intron_variant LIRI-JP 2 160578473 160578473 single base substitution A G intron_variant LIRI-JP 2 160579150 160579150 single base substitution G A intron_variant LIRI-JP 2 160579254 160579254 single base substitution G A intron_variant LIRI-JP 2 160579898 160579898 single base substitution A G intron_variant LIRI-JP 2 160580243 160580244 deletion of <=200bp CA - intron_variant LIRI-JP 2 160581866 160581866 single base substitution A T intron_variant LIRI-JP 2 160583615 160583615 single base substitution C T intron_variant LIRI-JP 2 160583636 160583636 single base substitution G T intron_variant LIRI-JP 2 160583637 160583637 single base substitution C A intron_variant LIRI-JP 2 160584335 160584335 single base substitution T A intron_variant LIRI-JP 2 160586770 160586770 single base substitution T G intron_variant LIRI-JP 2 160586770 160586770 single base substitution T G upstream_gene_variant LIRI-JP 2 160586899 160586900 deletion of <=200bp AA - intron_variant LIRI-JP 2 160586899 160586900 deletion of <=200bp AA - upstream_gene_variant LIRI-JP 2 160586925 160586925 single base substitution A C intron_variant LIRI-JP 2 160586925 160586925 single base substitution A C upstream_gene_variant LIRI-JP 2 160587678 160587678 single base substitution A G intron_variant LIRI-JP 2 160587678 160587678 single base substitution A G upstream_gene_variant LIRI-JP 2 160587846 160587846 single base substitution A G intron_variant LIRI-JP 2 160587846 160587846 single base substitution A G upstream_gene_variant LIRI-JP 2 160590109 160590110 deletion of <=200bp GA - intron_variant LIRI-JP 2 160590109 160590110 deletion of <=200bp GA - upstream_gene_variant LIRI-JP 2 160591093 160591093 single base substitution A G intron_variant LIRI-JP 2 160591974 160591974 single base substitution A G intron_variant LIRI-JP 2 160592040 160592040 single base substitution A G intron_variant LIRI-JP 2 160592508 160592508 single base substitution C T intron_variant LIRI-JP 2 160592721 160592721 single base substitution G A intron_variant LIRI-JP 2 160592767 160592767 single base substitution C T intron_variant LIRI-JP 2 160594126 160594126 single base substitution C T intron_variant LIRI-JP 2 160595669 160595669 single base substitution A C intron_variant LIRI-JP 2 160597213 160597213 single base substitution T A intron_variant LIRI-JP 2 160598391 160598391 single base substitution A G intron_variant LIRI-JP 2 160598391 160598391 single base substitution A G upstream_gene_variant LIRI-JP 2 160598706 160598706 single base substitution A G intron_variant LIRI-JP 2 160598706 160598706 single base substitution A G upstream_gene_variant LIRI-JP 2 160598944 160598944 single base substitution A G intron_variant LIRI-JP 2 160598944 160598944 single base substitution A G upstream_gene_variant LIRI-JP 2 160599287 160599287 single base substitution A C intron_variant LIRI-JP 2 160599287 160599287 single base substitution A C upstream_gene_variant LIRI-JP 2 160599419 160599419 single base substitution G C intron_variant LIRI-JP 2 160599419 160599419 single base substitution G C upstream_gene_variant LIRI-JP 2 160599577 160599577 single base substitution A C exon_variant LIRI-JP 2 160599577 160599577 single base substitution A C synonymous_variant T15T 45A>C LIRI-JP 2 160599577 160599577 single base substitution A C synonymous_variant T53T 159A>C LIRI-JP 2 160599577 160599577 single base substitution A C upstream_gene_variant LIRI-JP 2 160600218 160600218 single base substitution C A downstream_gene_variant LIRI-JP 2 160600218 160600218 single base substitution C A intron_variant LIRI-JP 2 160600218 160600218 single base substitution C A upstream_gene_variant LIRI-JP 2 160602368 160602368 single base substitution A G downstream_gene_variant LIRI-JP 2 160602368 160602368 single base substitution A G exon_variant LIRI-JP 2 160602368 160602368 single base substitution A G intron_variant LIRI-JP 2 160602368 160602368 single base substitution A G missense_variant D107G 320A>G LIRI-JP 2 160602368 160602368 single base substitution A G missense_variant D145G 434A>G LIRI-JP 2 160602589 160602589 insertion of <=200bp - AGTAC downstream_gene_variant LIRI-JP 2 160602589 160602589 insertion of <=200bp - AGTAC intron_variant LIRI-JP 2 160604534 160604534 single base substitution A T downstream_gene_variant LIRI-JP 2 160604534 160604534 single base substitution A T exon_variant LIRI-JP 2 160604534 160604534 single base substitution A T intron_variant LIRI-JP 2 160604534 160604534 single base substitution A T missense_variant S189C 565A>T LIRI-JP 2 160604534 160604534 single base substitution A T missense_variant S207C 619A>T LIRI-JP 2 160604534 160604534 single base substitution A T missense_variant S245C 733A>T LIRI-JP 2 160604534 160604534 single base substitution A T upstream_gene_variant LIRI-JP 2 160604637 160604637 single base substitution C A downstream_gene_variant LIRI-JP 2 160604637 160604637 single base substitution C A exon_variant LIRI-JP 2 160604637 160604637 single base substitution C A intron_variant LIRI-JP 2 160604637 160604637 single base substitution C A missense_variant T223K 668C>A LIRI-JP 2 160604637 160604637 single base substitution C A missense_variant T241K 722C>A LIRI-JP 2 160604637 160604637 single base substitution C A missense_variant T279K 836C>A LIRI-JP 2 160604637 160604637 single base substitution C A upstream_gene_variant LIRI-JP 2 160605419 160605419 single base substitution A C downstream_gene_variant LIRI-JP 2 160605419 160605419 single base substitution A C intron_variant LIRI-JP 2 160605419 160605419 single base substitution A C splice_region_variant LIRI-JP 2 160605419 160605419 single base substitution A C upstream_gene_variant LIRI-JP 2 160605532 160605532 single base substitution C T downstream_gene_variant LIRI-JP 2 160605532 160605532 single base substitution C T intron_variant LIRI-JP 2 160605532 160605532 single base substitution C T upstream_gene_variant LIRI-JP 2 160606410 160606410 single base substitution A G downstream_gene_variant LIRI-JP 2 160606410 160606410 single base substitution A G intron_variant LIRI-JP 2 160606410 160606410 single base substitution A G upstream_gene_variant LIRI-JP 2 160608804 160608804 single base substitution A C downstream_gene_variant LIRI-JP 2 160608804 160608804 single base substitution A C intron_variant LIRI-JP 2 160608804 160608804 single base substitution A C upstream_gene_variant LIRI-JP 2 160612394 160612394 single base substitution C T downstream_gene_variant LIRI-JP 2 160612394 160612394 single base substitution C T intron_variant LIRI-JP 2 160612394 160612394 single base substitution C T upstream_gene_variant LIRI-JP 2 160612703 160612703 single base substitution C A downstream_gene_variant LIRI-JP 2 160612703 160612703 single base substitution C A intron_variant LIRI-JP 2 160612703 160612703 single base substitution C A upstream_gene_variant LIRI-JP 2 160613153 160613153 single base substitution A T downstream_gene_variant LIRI-JP 2 160613153 160613153 single base substitution A T intron_variant LIRI-JP 2 160613153 160613153 single base substitution A T upstream_gene_variant LIRI-JP 2 160614070 160614070 single base substitution T C intron_variant LIRI-JP 2 160614070 160614070 single base substitution T C upstream_gene_variant LIRI-JP 2 160614322 160614322 single base substitution A C intron_variant LIRI-JP 2 160614322 160614322 single base substitution A C upstream_gene_variant LIRI-JP 2 160614453 160614453 single base substitution A G intron_variant LIRI-JP 2 160614453 160614453 single base substitution A G upstream_gene_variant LIRI-JP 2 160615310 160615310 single base substitution G T intron_variant LIRI-JP 2 160615310 160615310 single base substitution G T upstream_gene_variant LIRI-JP 2 160616211 160616211 single base substitution A C intron_variant LIRI-JP 2 160618877 160618879 deletion of <=200bp GAA - intron_variant LIRI-JP 2 160621288 160621288 single base substitution T G intron_variant LIRI-JP 2 160621809 160621809 single base substitution T G intron_variant LIRI-JP 2 160623012 160623012 insertion of <=200bp - T intron_variant LIRI-JP 2 160623020 160623020 single base substitution A G intron_variant LIRI-JP 2 160624929 160624929 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 160624929 160624929 single base substitution A C downstream_gene_variant LIRI-JP 2 160625107 160625107 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 160625107 160625107 single base substitution T C downstream_gene_variant LIRI-JP 2 160625715 160625715 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 160625715 160625715 single base substitution A G downstream_gene_variant LIRI-JP 2 160626233 160626244 deletion of <=200bp CAGAGTTTAAAG - 3_prime_UTR_variant LIRI-JP 2 160626233 160626244 deletion of <=200bp CAGAGTTTAAAG - downstream_gene_variant LIRI-JP 2 160627075 160627075 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 160627075 160627075 single base substitution A C downstream_gene_variant LIRI-JP 2 160627168 160627168 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 160627168 160627168 single base substitution C A downstream_gene_variant LIRI-JP 2 160627783 160627783 single base substitution A G downstream_gene_variant LIRI-JP 2 160628050 160628050 single base substitution A C downstream_gene_variant LIRI-JP 2 160628172 160628172 insertion of <=200bp - T downstream_gene_variant LIRI-JP 2 160628859 160628859 single base substitution T C downstream_gene_variant LIRI-JP 2 160629802 160629802 single base substitution G T downstream_gene_variant LIRI-JP 2 160629980 160629980 deletion of <=200bp A - downstream_gene_variant LIRI-JP 2 160630642 160630676 deletion of <=200bp TCCCTGACTGCTCTATTTTTCAGACGACTGCTTCC - downstream_gene_variant LIRI-JP 2 160631866 160631866 single base substitution T C downstream_gene_variant LUSC-KR 2 160566738 160566738 single base substitution G T upstream_gene_variant LUSC-KR 2 160568650 160568650 single base substitution C A upstream_gene_variant LUSC-KR 2 160569460 160569460 single base substitution C T intron_variant LUSC-KR 2 160572949 160572949 single base substitution G A intron_variant LUSC-KR 2 160579129 160579129 single base substitution G A intron_variant LUSC-KR 2 160583690 160583690 single base substitution G C intron_variant LUSC-KR 2 160585398 160585398 single base substitution G C intron_variant LUSC-KR 2 160585740 160585740 single base substitution C A intron_variant LUSC-KR 2 160585740 160585740 single base substitution C A upstream_gene_variant LUSC-KR 2 160595092 160595092 single base substitution A T intron_variant LUSC-KR 2 160595095 160595095 single base substitution G T intron_variant LUSC-KR 2 160595915 160595915 single base substitution G A intron_variant LUSC-KR 2 160597479 160597479 single base substitution A T intron_variant LUSC-KR 2 160597479 160597479 single base substitution A T upstream_gene_variant LUSC-KR 2 160597983 160597983 single base substitution C T intron_variant LUSC-KR 2 160597983 160597983 single base substitution C T upstream_gene_variant LUSC-KR 2 160597988 160597988 single base substitution G T intron_variant LUSC-KR 2 160597988 160597988 single base substitution G T upstream_gene_variant LUSC-KR 2 160601684 160601684 single base substitution A G downstream_gene_variant LUSC-KR 2 160601684 160601684 single base substitution A G intron_variant LUSC-KR 2 160601684 160601684 single base substitution A G upstream_gene_variant LUSC-KR 2 160603551 160603551 single base substitution G T downstream_gene_variant LUSC-KR 2 160603551 160603551 single base substitution G T intron_variant LUSC-KR 2 160604812 160604812 single base substitution C T downstream_gene_variant LUSC-KR 2 160604812 160604812 single base substitution C T intron_variant LUSC-KR 2 160604812 160604812 single base substitution C T synonymous_variant P281P 843C>T LUSC-KR 2 160604812 160604812 single base substitution C T synonymous_variant P299P 897C>T LUSC-KR 2 160604812 160604812 single base substitution C T synonymous_variant P337P 1011C>T LUSC-KR 2 160604812 160604812 single base substitution C T upstream_gene_variant LUSC-KR 2 160605508 160605508 single base substitution G T downstream_gene_variant LUSC-KR 2 160605508 160605508 single base substitution G T intron_variant LUSC-KR 2 160605508 160605508 single base substitution G T upstream_gene_variant LUSC-KR 2 160610217 160610217 single base substitution G C downstream_gene_variant LUSC-KR 2 160610217 160610217 single base substitution G C intron_variant LUSC-KR 2 160612514 160612514 single base substitution G T downstream_gene_variant LUSC-KR 2 160612514 160612514 single base substitution G T intron_variant LUSC-KR 2 160612514 160612514 single base substitution G T upstream_gene_variant LUSC-KR 2 160621201 160621201 single base substitution C T intron_variant LUSC-KR 2 160622125 160622125 single base substitution T C intron_variant LUSC-KR 2 160625727 160625727 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 160625727 160625727 single base substitution C G downstream_gene_variant LUSC-KR 2 160625747 160625747 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 160625747 160625747 single base substitution G A downstream_gene_variant LUSC-KR 2 160628155 160628155 single base substitution C G downstream_gene_variant LUSC-KR 2 160629242 160629242 single base substitution C T downstream_gene_variant LUSC-US 2 160605213 160605213 single base substitution G A downstream_gene_variant LUSC-US 2 160605213 160605213 single base substitution G A intron_variant LUSC-US 2 160605213 160605213 single base substitution G A missense_variant R415K 1244G>A LUSC-US 2 160605213 160605213 single base substitution G A missense_variant R433K 1298G>A LUSC-US 2 160605213 160605213 single base substitution G A missense_variant R471K 1412G>A LUSC-US 2 160605213 160605213 single base substitution G A upstream_gene_variant MALY-DE 2 160576319 160576319 single base substitution A T intron_variant MALY-DE 2 160580704 160580704 single base substitution T C intron_variant MALY-DE 2 160587152 160587152 single base substitution G C intron_variant MALY-DE 2 160587152 160587152 single base substitution G C upstream_gene_variant MALY-DE 2 160603504 160603504 single base substitution T G downstream_gene_variant MALY-DE 2 160603504 160603504 single base substitution T G intron_variant MALY-DE 2 160607035 160607035 insertion of <=200bp - AAAAT downstream_gene_variant MALY-DE 2 160607035 160607035 insertion of <=200bp - AAAAT intron_variant MALY-DE 2 160607035 160607035 insertion of <=200bp - AAAAT upstream_gene_variant MALY-DE 2 160617845 160617845 single base substitution T C intron_variant MALY-DE 2 160620815 160620821 deletion of <=200bp GTTTTTT - intron_variant MELA-AU 2 160564155 160564155 single base substitution G A upstream_gene_variant MELA-AU 2 160564270 160564270 single base substitution G A upstream_gene_variant MELA-AU 2 160565100 160565100 single base substitution A C upstream_gene_variant MELA-AU 2 160565445 160565445 single base substitution G A upstream_gene_variant MELA-AU 2 160566004 160566004 single base substitution G A upstream_gene_variant MELA-AU 2 160566556 160566556 single base substitution G A upstream_gene_variant MELA-AU 2 160569226 160569226 single base substitution G A intron_variant MELA-AU 2 160571212 160571212 single base substitution G A intron_variant MELA-AU 2 160571260 160571261 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 160572304 160572304 single base substitution C T intron_variant MELA-AU 2 160572322 160572322 single base substitution C T intron_variant MELA-AU 2 160572577 160572577 single base substitution A T intron_variant MELA-AU 2 160573116 160573116 single base substitution T C intron_variant MELA-AU 2 160573152 160573152 single base substitution T A intron_variant MELA-AU 2 160573608 160573608 single base substitution C T intron_variant MELA-AU 2 160575803 160575803 single base substitution C T intron_variant MELA-AU 2 160578212 160578212 single base substitution C T intron_variant MELA-AU 2 160578264 160578264 single base substitution G A intron_variant MELA-AU 2 160580782 160580782 insertion of <=200bp - T intron_variant MELA-AU 2 160581338 160581338 single base substitution C T intron_variant MELA-AU 2 160581346 160581346 single base substitution C T intron_variant MELA-AU 2 160581552 160581552 single base substitution C T intron_variant MELA-AU 2 160581866 160581866 single base substitution A T intron_variant MELA-AU 2 160582180 160582180 single base substitution C T intron_variant MELA-AU 2 160582368 160582368 single base substitution G A intron_variant MELA-AU 2 160583236 160583236 deletion of <=200bp A - intron_variant MELA-AU 2 160584053 160584053 single base substitution C T intron_variant MELA-AU 2 160584174 160584174 single base substitution T A intron_variant MELA-AU 2 160584464 160584464 single base substitution C T intron_variant MELA-AU 2 160584561 160584561 single base substitution T C intron_variant MELA-AU 2 160584757 160584757 single base substitution G A intron_variant MELA-AU 2 160585734 160585734 single base substitution C T intron_variant MELA-AU 2 160585734 160585734 single base substitution C T upstream_gene_variant MELA-AU 2 160586067 160586067 single base substitution C T intron_variant MELA-AU 2 160586067 160586067 single base substitution C T upstream_gene_variant MELA-AU 2 160587558 160587558 single base substitution C T intron_variant MELA-AU 2 160587558 160587558 single base substitution C T upstream_gene_variant MELA-AU 2 160587875 160587875 single base substitution C T intron_variant MELA-AU 2 160587875 160587875 single base substitution C T upstream_gene_variant MELA-AU 2 160588364 160588364 single base substitution C T intron_variant MELA-AU 2 160588364 160588364 single base substitution C T upstream_gene_variant MELA-AU 2 160588798 160588798 single base substitution G A intron_variant MELA-AU 2 160588798 160588798 single base substitution G A upstream_gene_variant MELA-AU 2 160590209 160590209 single base substitution G A intron_variant MELA-AU 2 160590209 160590209 single base substitution G A upstream_gene_variant MELA-AU 2 160590342 160590342 single base substitution C T intron_variant MELA-AU 2 160590342 160590342 single base substitution C T upstream_gene_variant MELA-AU 2 160590344 160590344 single base substitution C T intron_variant MELA-AU 2 160590344 160590344 single base substitution C T upstream_gene_variant MELA-AU 2 160590452 160590452 single base substitution T C intron_variant MELA-AU 2 160590452 160590452 single base substitution T C upstream_gene_variant MELA-AU 2 160591441 160591441 single base substitution C T intron_variant MELA-AU 2 160591510 160591510 single base substitution C T intron_variant MELA-AU 2 160591565 160591565 single base substitution T C intron_variant MELA-AU 2 160592004 160592004 single base substitution C T intron_variant MELA-AU 2 160592165 160592165 insertion of <=200bp - A intron_variant MELA-AU 2 160592467 160592467 single base substitution C T intron_variant MELA-AU 2 160593064 160593064 single base substitution T C intron_variant MELA-AU 2 160594517 160594517 single base substitution G A intron_variant MELA-AU 2 160595086 160595086 single base substitution C T intron_variant MELA-AU 2 160595301 160595301 single base substitution C T intron_variant MELA-AU 2 160595566 160595566 single base substitution C T intron_variant MELA-AU 2 160595637 160595637 single base substitution C T intron_variant MELA-AU 2 160597151 160597151 single base substitution C T intron_variant MELA-AU 2 160597339 160597339 single base substitution C T intron_variant MELA-AU 2 160597339 160597339 single base substitution C T upstream_gene_variant MELA-AU 2 160597831 160597831 single base substitution C T intron_variant MELA-AU 2 160597831 160597831 single base substitution C T upstream_gene_variant MELA-AU 2 160600258 160600258 single base substitution A G downstream_gene_variant MELA-AU 2 160600258 160600258 single base substitution A G intron_variant MELA-AU 2 160600258 160600258 single base substitution A G upstream_gene_variant MELA-AU 2 160603023 160603023 single base substitution C T downstream_gene_variant MELA-AU 2 160603023 160603023 single base substitution C T intron_variant MELA-AU 2 160603682 160603682 single base substitution T C downstream_gene_variant MELA-AU 2 160603682 160603682 single base substitution T C intron_variant MELA-AU 2 160604697 160604697 single base substitution C T downstream_gene_variant MELA-AU 2 160604697 160604697 single base substitution C T intron_variant MELA-AU 2 160604697 160604697 single base substitution C T missense_variant S243F 728C>T MELA-AU 2 160604697 160604697 single base substitution C T missense_variant S261F 782C>T MELA-AU 2 160604697 160604697 single base substitution C T missense_variant S299F 896C>T MELA-AU 2 160604697 160604697 single base substitution C T upstream_gene_variant MELA-AU 2 160605606 160605606 single base substitution C T downstream_gene_variant MELA-AU 2 160605606 160605606 single base substitution C T intron_variant MELA-AU 2 160605606 160605606 single base substitution C T upstream_gene_variant MELA-AU 2 160606056 160606056 single base substitution A G downstream_gene_variant MELA-AU 2 160606056 160606056 single base substitution A G intron_variant MELA-AU 2 160606056 160606056 single base substitution A G upstream_gene_variant MELA-AU 2 160606167 160606167 single base substitution C T downstream_gene_variant MELA-AU 2 160606167 160606167 single base substitution C T intron_variant MELA-AU 2 160606167 160606167 single base substitution C T upstream_gene_variant MELA-AU 2 160606809 160606809 single base substitution G T downstream_gene_variant MELA-AU 2 160606809 160606809 single base substitution G T intron_variant MELA-AU 2 160606809 160606809 single base substitution G T upstream_gene_variant MELA-AU 2 160607035 160607035 insertion of <=200bp - AAAAT downstream_gene_variant MELA-AU 2 160607035 160607035 insertion of <=200bp - AAAAT intron_variant MELA-AU 2 160607035 160607035 insertion of <=200bp - AAAAT upstream_gene_variant MELA-AU 2 160607550 160607550 single base substitution C T downstream_gene_variant MELA-AU 2 160607550 160607550 single base substitution C T intron_variant MELA-AU 2 160607550 160607550 single base substitution C T upstream_gene_variant MELA-AU 2 160608110 160608110 single base substitution T A downstream_gene_variant MELA-AU 2 160608110 160608110 single base substitution T A intron_variant MELA-AU 2 160608110 160608110 single base substitution T A upstream_gene_variant MELA-AU 2 160608322 160608322 single base substitution G A downstream_gene_variant MELA-AU 2 160608322 160608322 single base substitution G A intron_variant MELA-AU 2 160608322 160608322 single base substitution G A upstream_gene_variant MELA-AU 2 160608323 160608323 single base substitution C T downstream_gene_variant MELA-AU 2 160608323 160608323 single base substitution C T intron_variant MELA-AU 2 160608323 160608323 single base substitution C T upstream_gene_variant MELA-AU 2 160610186 160610186 single base substitution T C downstream_gene_variant MELA-AU 2 160610186 160610186 single base substitution T C intron_variant MELA-AU 2 160611707 160611707 single base substitution A G downstream_gene_variant MELA-AU 2 160611707 160611707 single base substitution A G intron_variant MELA-AU 2 160611707 160611707 single base substitution A G upstream_gene_variant MELA-AU 2 160612017 160612017 single base substitution C T downstream_gene_variant MELA-AU 2 160612017 160612017 single base substitution C T intron_variant MELA-AU 2 160612017 160612017 single base substitution C T upstream_gene_variant MELA-AU 2 160612643 160612643 single base substitution C T downstream_gene_variant MELA-AU 2 160612643 160612643 single base substitution C T intron_variant MELA-AU 2 160612643 160612643 single base substitution C T upstream_gene_variant MELA-AU 2 160615234 160615234 single base substitution C T intron_variant MELA-AU 2 160615234 160615234 single base substitution C T upstream_gene_variant MELA-AU 2 160615633 160615633 single base substitution T A intron_variant MELA-AU 2 160615633 160615633 single base substitution T A upstream_gene_variant MELA-AU 2 160615838 160615852 deletion of <=200bp AATGAACAAGTTAGT - exon_variant MELA-AU 2 160615838 160615852 deletion of <=200bp AATGAACAAGTTAGT - splice_donor_variant MELA-AU 2 160617523 160617523 single base substitution G A intron_variant MELA-AU 2 160618539 160618539 single base substitution C T intron_variant MELA-AU 2 160618691 160618691 single base substitution C T intron_variant MELA-AU 2 160619383 160619383 single base substitution T G splice_region_variant MELA-AU 2 160620330 160620330 single base substitution C T intron_variant MELA-AU 2 160620341 160620341 single base substitution C T intron_variant MELA-AU 2 160620659 160620659 single base substitution T C intron_variant MELA-AU 2 160621718 160621718 single base substitution T A intron_variant MELA-AU 2 160622892 160622892 single base substitution C T intron_variant MELA-AU 2 160623264 160623264 single base substitution G A intron_variant MELA-AU 2 160623381 160623381 single base substitution A T intron_variant MELA-AU 2 160623383 160623383 single base substitution C T intron_variant MELA-AU 2 160624246 160624246 single base substitution T C 3_prime_UTR_variant MELA-AU 2 160624246 160624246 single base substitution T C downstream_gene_variant MELA-AU 2 160624246 160624246 single base substitution T C exon_variant MELA-AU 2 160624999 160624999 single base substitution C T 3_prime_UTR_variant MELA-AU 2 160624999 160624999 single base substitution C T downstream_gene_variant MELA-AU 2 160626188 160626188 single base substitution C T 3_prime_UTR_variant MELA-AU 2 160626188 160626188 single base substitution C T downstream_gene_variant MELA-AU 2 160626241 160626241 single base substitution A G 3_prime_UTR_variant MELA-AU 2 160626241 160626241 single base substitution A G downstream_gene_variant MELA-AU 2 160628072 160628072 single base substitution G T downstream_gene_variant MELA-AU 2 160628141 160628141 single base substitution G A downstream_gene_variant MELA-AU 2 160629826 160629826 single base substitution C T downstream_gene_variant MELA-AU 2 160630370 160630370 single base substitution T C downstream_gene_variant MELA-AU 2 160630704 160630704 single base substitution C T downstream_gene_variant MELA-AU 2 160631839 160631839 single base substitution A T downstream_gene_variant MELA-AU 2 160632502 160632502 single base substitution G A downstream_gene_variant ORCA-IN 2 160600258 160600258 insertion of <=200bp - G downstream_gene_variant ORCA-IN 2 160600258 160600258 insertion of <=200bp - G intron_variant ORCA-IN 2 160600258 160600258 insertion of <=200bp - G upstream_gene_variant ORCA-IN 2 160627198 160627198 single base substitution G C 3_prime_UTR_variant ORCA-IN 2 160627198 160627198 single base substitution G C downstream_gene_variant ORCA-IN 2 160628373 160628373 single base substitution G A downstream_gene_variant OV-AU 2 160572094 160572094 single base substitution G T intron_variant OV-AU 2 160572924 160572924 single base substitution G A intron_variant OV-AU 2 160575387 160575387 single base substitution C G intron_variant OV-AU 2 160578972 160578972 single base substitution A T intron_variant OV-AU 2 160578973 160578973 single base substitution C G intron_variant OV-AU 2 160585016 160585016 single base substitution A G intron_variant OV-AU 2 160590148 160590148 single base substitution C G intron_variant OV-AU 2 160590148 160590148 single base substitution C G upstream_gene_variant OV-AU 2 160597302 160597302 single base substitution G A intron_variant OV-AU 2 160597302 160597302 single base substitution G A upstream_gene_variant OV-AU 2 160600779 160600779 single base substitution G C downstream_gene_variant OV-AU 2 160600779 160600779 single base substitution G C intron_variant OV-AU 2 160600779 160600779 single base substitution G C upstream_gene_variant OV-AU 2 160601057 160601057 single base substitution A C downstream_gene_variant OV-AU 2 160601057 160601057 single base substitution A C intron_variant OV-AU 2 160601057 160601057 single base substitution A C upstream_gene_variant OV-AU 2 160605872 160605872 single base substitution G T downstream_gene_variant OV-AU 2 160605872 160605872 single base substitution G T intron_variant OV-AU 2 160605872 160605872 single base substitution G T upstream_gene_variant OV-AU 2 160621091 160621091 single base substitution A T intron_variant OV-AU 2 160631275 160631275 single base substitution A T downstream_gene_variant PACA-AU 2 160565561 160565561 single base substitution A T upstream_gene_variant PACA-AU 2 160567120 160567120 single base substitution C T upstream_gene_variant PACA-AU 2 160567234 160567234 single base substitution A G upstream_gene_variant PACA-AU 2 160567518 160567518 single base substitution C T upstream_gene_variant PACA-AU 2 160573166 160573166 single base substitution T A intron_variant PACA-AU 2 160575494 160575494 single base substitution C G intron_variant PACA-AU 2 160578891 160578891 single base substitution C A intron_variant PACA-AU 2 160587055 160587055 single base substitution A C intron_variant PACA-AU 2 160587055 160587055 single base substitution A C upstream_gene_variant PACA-AU 2 160595238 160595238 single base substitution G A intron_variant PACA-AU 2 160603913 160603913 single base substitution G A downstream_gene_variant PACA-AU 2 160603913 160603913 single base substitution G A intron_variant PACA-AU 2 160607227 160607227 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 160607227 160607227 deletion of <=200bp A - intron_variant PACA-AU 2 160607227 160607227 deletion of <=200bp A - upstream_gene_variant PACA-AU 2 160613513 160613513 single base substitution C A downstream_gene_variant PACA-AU 2 160613513 160613513 single base substitution C A intron_variant PACA-AU 2 160613513 160613513 single base substitution C A upstream_gene_variant PACA-AU 2 160625670 160625670 single base substitution G C 3_prime_UTR_variant PACA-AU 2 160625670 160625670 single base substitution G C downstream_gene_variant PACA-AU 2 160627172 160627172 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 2 160627172 160627172 deletion of <=200bp T - downstream_gene_variant PACA-AU 2 160631043 160631043 single base substitution T G downstream_gene_variant PACA-CA 2 160565642 160565642 single base substitution G A upstream_gene_variant PACA-CA 2 160566679 160566679 single base substitution G A upstream_gene_variant PACA-CA 2 160568073 160568073 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 160571553 160571553 single base substitution A T intron_variant PACA-CA 2 160582575 160582575 single base substitution C T intron_variant PACA-CA 2 160587774 160587774 single base substitution A G intron_variant PACA-CA 2 160587774 160587774 single base substitution A G upstream_gene_variant PACA-CA 2 160588798 160588798 single base substitution G A intron_variant PACA-CA 2 160588798 160588798 single base substitution G A upstream_gene_variant PACA-CA 2 160591701 160591701 single base substitution G T intron_variant PACA-CA 2 160595243 160595243 single base substitution G A intron_variant PACA-CA 2 160595282 160595282 single base substitution G A intron_variant PACA-CA 2 160595355 160595355 single base substitution T C intron_variant PACA-CA 2 160596047 160596047 single base substitution G A intron_variant PACA-CA 2 160599186 160599186 single base substitution C T intron_variant PACA-CA 2 160599186 160599186 single base substitution C T upstream_gene_variant PACA-CA 2 160602162 160602162 single base substitution G A downstream_gene_variant PACA-CA 2 160602162 160602162 single base substitution G A intron_variant PACA-CA 2 160602162 160602162 single base substitution G A upstream_gene_variant PACA-CA 2 160606248 160606248 insertion of <=200bp - G downstream_gene_variant PACA-CA 2 160606248 160606248 insertion of <=200bp - G intron_variant PACA-CA 2 160606248 160606248 insertion of <=200bp - G upstream_gene_variant PACA-CA 2 160608738 160608738 single base substitution G C downstream_gene_variant PACA-CA 2 160608738 160608738 single base substitution G C intron_variant PACA-CA 2 160608738 160608738 single base substitution G C upstream_gene_variant PACA-CA 2 160613649 160613649 single base substitution G T downstream_gene_variant PACA-CA 2 160613649 160613649 single base substitution G T intron_variant PACA-CA 2 160613649 160613649 single base substitution G T upstream_gene_variant PACA-CA 2 160614966 160614966 single base substitution C T intron_variant PACA-CA 2 160614966 160614966 single base substitution C T upstream_gene_variant PACA-CA 2 160617844 160617844 single base substitution A T intron_variant PACA-CA 2 160617850 160617850 single base substitution T A intron_variant PACA-CA 2 160620837 160620837 single base substitution T C intron_variant PACA-CA 2 160620853 160620853 single base substitution T C intron_variant PACA-CA 2 160623079 160623079 single base substitution A G intron_variant PACA-CA 2 160623488 160623488 single base substitution C A intron_variant PACA-CA 2 160625877 160625877 single base substitution A G 3_prime_UTR_variant PACA-CA 2 160625877 160625877 single base substitution A G downstream_gene_variant PAEN-AU 2 160569045 160569045 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PAEN-AU 2 160569045 160569045 single base substitution G T exon_variant PAEN-AU 2 160631266 160631266 single base substitution G T downstream_gene_variant PBCA-DE 2 160568472 160568473 deletion of <=200bp CT - upstream_gene_variant PBCA-DE 2 160584447 160584447 single base substitution T A intron_variant PBCA-DE 2 160588266 160588266 insertion of <=200bp - A intron_variant PBCA-DE 2 160588266 160588266 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 160588508 160588508 single base substitution G A intron_variant PBCA-DE 2 160588508 160588508 single base substitution G A upstream_gene_variant PBCA-DE 2 160599461 160599461 single base substitution A G intron_variant PBCA-DE 2 160599461 160599461 single base substitution A G upstream_gene_variant PBCA-DE 2 160613226 160613226 deletion of <=200bp C - downstream_gene_variant PBCA-DE 2 160613226 160613226 deletion of <=200bp C - intron_variant PBCA-DE 2 160613226 160613226 deletion of <=200bp C - upstream_gene_variant PRAD-CA 2 160565122 160565122 single base substitution T C upstream_gene_variant PRAD-CA 2 160595129 160595129 single base substitution G C intron_variant PRAD-CA 2 160600812 160600812 single base substitution A G downstream_gene_variant PRAD-CA 2 160600812 160600812 single base substitution A G intron_variant PRAD-CA 2 160600812 160600812 single base substitution A G upstream_gene_variant PRAD-CA 2 160617837 160617837 single base substitution G A intron_variant PRAD-CA 2 160619658 160619658 single base substitution G A intron_variant PRAD-CA 2 160623454 160623454 single base substitution G C intron_variant PRAD-UK 2 160564048 160564048 single base substitution A C upstream_gene_variant PRAD-UK 2 160570279 160570279 single base substitution C T intron_variant PRAD-UK 2 160574058 160574058 single base substitution C G intron_variant PRAD-UK 2 160575555 160575555 single base substitution C T intron_variant PRAD-UK 2 160579273 160579273 single base substitution T G intron_variant PRAD-UK 2 160598528 160598528 single base substitution C G intron_variant PRAD-UK 2 160598528 160598528 single base substitution C G upstream_gene_variant PRAD-UK 2 160599349 160599349 single base substitution G T intron_variant PRAD-UK 2 160599349 160599349 single base substitution G T upstream_gene_variant PRAD-UK 2 160618677 160618677 single base substitution C G intron_variant PRAD-UK 2 160621907 160621907 single base substitution C T intron_variant READ-US 2 160585661 160585661 single base substitution C A exon_variant READ-US 2 160585661 160585661 single base substitution C A stop_gained S43* 128C>A READ-US 2 160585661 160585661 single base substitution C A upstream_gene_variant READ-US 2 160621138 160621138 single base substitution T G intron_variant READ-US 2 160621138 160621138 single base substitution T G missense_variant F632C 1895T>G READ-US 2 160621138 160621138 single base substitution T G missense_variant F670C 2009T>G READ-US 2 160621138 160621138 single base substitution T G splice_region_variant RECA-EU 2 160568562 160568562 single base substitution C A upstream_gene_variant RECA-EU 2 160570160 160570160 single base substitution A C intron_variant RECA-EU 2 160580607 160580607 single base substitution T A intron_variant RECA-EU 2 160582549 160582549 single base substitution A T intron_variant RECA-EU 2 160583106 160583106 single base substitution A G intron_variant RECA-EU 2 160589787 160589787 single base substitution C A intron_variant RECA-EU 2 160589787 160589787 single base substitution C A upstream_gene_variant RECA-EU 2 160602662 160602662 single base substitution T C downstream_gene_variant RECA-EU 2 160602662 160602662 single base substitution T C intron_variant RECA-EU 2 160621199 160621199 single base substitution C T intron_variant RECA-EU 2 160628735 160628735 single base substitution C T downstream_gene_variant SKCA-BR 2 160564040 160564040 single base substitution A G upstream_gene_variant SKCA-BR 2 160564180 160564180 single base substitution T A upstream_gene_variant SKCA-BR 2 160564416 160564416 single base substitution C T upstream_gene_variant SKCA-BR 2 160565056 160565056 insertion of <=200bp - TTTTA upstream_gene_variant SKCA-BR 2 160565084 160565092 deletion of <=200bp ATTTATTTC - upstream_gene_variant SKCA-BR 2 160582327 160582327 single base substitution G A intron_variant SKCA-BR 2 160583761 160583761 single base substitution G A intron_variant SKCA-BR 2 160583864 160583864 single base substitution C A intron_variant SKCA-BR 2 160584219 160584219 single base substitution T A intron_variant SKCA-BR 2 160584715 160584715 single base substitution A G intron_variant SKCA-BR 2 160591980 160591980 single base substitution G T intron_variant SKCA-BR 2 160600511 160600516 deletion of <=200bp TTTTTG - downstream_gene_variant SKCA-BR 2 160600511 160600516 deletion of <=200bp TTTTTG - intron_variant SKCA-BR 2 160600511 160600516 deletion of <=200bp TTTTTG - upstream_gene_variant SKCA-BR 2 160602446 160602446 single base substitution C G downstream_gene_variant SKCA-BR 2 160602446 160602446 single base substitution C G intron_variant SKCA-BR 2 160602446 160602446 single base substitution C G splice_region_variant SKCA-BR 2 160602446 160602446 single base substitution C G stop_gained S133* 398C>G SKCA-BR 2 160602446 160602446 single base substitution C G stop_gained S171* 512C>G SKCA-BR 2 160605488 160605489 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 2 160605488 160605489 deletion of <=200bp TC - intron_variant SKCA-BR 2 160605488 160605489 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 2 160605489 160605489 single base substitution C T downstream_gene_variant SKCA-BR 2 160605489 160605489 single base substitution C T intron_variant SKCA-BR 2 160605489 160605489 single base substitution C T upstream_gene_variant SKCA-BR 2 160607099 160607099 single base substitution G A downstream_gene_variant SKCA-BR 2 160607099 160607099 single base substitution G A intron_variant SKCA-BR 2 160607099 160607099 single base substitution G A upstream_gene_variant SKCA-BR 2 160612194 160612194 single base substitution G A downstream_gene_variant SKCA-BR 2 160612194 160612194 single base substitution G A intron_variant SKCA-BR 2 160612194 160612194 single base substitution G A upstream_gene_variant SKCA-BR 2 160617538 160617538 insertion of <=200bp - ATT intron_variant SKCA-BR 2 160626154 160626154 insertion of <=200bp - CAT 3_prime_UTR_variant SKCA-BR 2 160626154 160626154 insertion of <=200bp - CAT downstream_gene_variant SKCA-BR 2 160631332 160631332 single base substitution C T downstream_gene_variant SKCM-US 2 160585558 160585558 single base substitution C T exon_variant SKCM-US 2 160585558 160585558 single base substitution C T missense_variant P9S 25C>T SKCM-US 2 160585558 160585558 single base substitution C T upstream_gene_variant SKCM-US 2 160599677 160599677 single base substitution C T exon_variant SKCM-US 2 160599677 160599677 single base substitution C T missense_variant H49Y 145C>T SKCM-US 2 160599677 160599677 single base substitution C T missense_variant H87Y 259C>T SKCM-US 2 160599677 160599677 single base substitution C T upstream_gene_variant SKCM-US 2 160602335 160602335 single base substitution C T downstream_gene_variant SKCM-US 2 160602335 160602335 single base substitution C T exon_variant SKCM-US 2 160602335 160602335 single base substitution C T intron_variant SKCM-US 2 160602335 160602335 single base substitution C T missense_variant S134L 401C>T SKCM-US 2 160602335 160602335 single base substitution C T missense_variant S96L 287C>T SKCM-US 2 160604709 160604709 single base substitution C A downstream_gene_variant SKCM-US 2 160604709 160604709 single base substitution C A intron_variant SKCM-US 2 160604709 160604709 single base substitution C A missense_variant S247Y 740C>A SKCM-US 2 160604709 160604709 single base substitution C A missense_variant S265Y 794C>A SKCM-US 2 160604709 160604709 single base substitution C A missense_variant S303Y 908C>A SKCM-US 2 160604709 160604709 single base substitution C A upstream_gene_variant SKCM-US 2 160604751 160604751 single base substitution C T downstream_gene_variant SKCM-US 2 160604751 160604751 single base substitution C T intron_variant SKCM-US 2 160604751 160604751 single base substitution C T missense_variant S261F 782C>T SKCM-US 2 160604751 160604751 single base substitution C T missense_variant S279F 836C>T SKCM-US 2 160604751 160604751 single base substitution C T missense_variant S317F 950C>T SKCM-US 2 160604751 160604751 single base substitution C T upstream_gene_variant SKCM-US 2 160604775 160604775 single base substitution A G downstream_gene_variant SKCM-US 2 160604775 160604775 single base substitution A G intron_variant SKCM-US 2 160604775 160604775 single base substitution A G missense_variant Q269R 806A>G SKCM-US 2 160604775 160604775 single base substitution A G missense_variant Q287R 860A>G SKCM-US 2 160604775 160604775 single base substitution A G missense_variant Q325R 974A>G SKCM-US 2 160604775 160604775 single base substitution A G upstream_gene_variant SKCM-US 2 160604791 160604791 single base substitution A G downstream_gene_variant SKCM-US 2 160604791 160604791 single base substitution A G intron_variant SKCM-US 2 160604791 160604791 single base substitution A G synonymous_variant V274V 822A>G SKCM-US 2 160604791 160604791 single base substitution A G synonymous_variant V292V 876A>G SKCM-US 2 160604791 160604791 single base substitution A G synonymous_variant V330V 990A>G SKCM-US 2 160604791 160604791 single base substitution A G upstream_gene_variant SKCM-US 2 160604811 160604811 single base substitution C T downstream_gene_variant SKCM-US 2 160604811 160604811 single base substitution C T intron_variant SKCM-US 2 160604811 160604811 single base substitution C T missense_variant P281L 842C>T SKCM-US 2 160604811 160604811 single base substitution C T missense_variant P299L 896C>T SKCM-US 2 160604811 160604811 single base substitution C T missense_variant P337L 1010C>T SKCM-US 2 160604811 160604811 single base substitution C T upstream_gene_variant SKCM-US 2 160604951 160604951 single base substitution C A downstream_gene_variant SKCM-US 2 160604951 160604951 single base substitution C A intron_variant SKCM-US 2 160604951 160604951 single base substitution C A missense_variant P328T 982C>A SKCM-US 2 160604951 160604951 single base substitution C A missense_variant P346T 1036C>A SKCM-US 2 160604951 160604951 single base substitution C A missense_variant P384T 1150C>A SKCM-US 2 160604951 160604951 single base substitution C A upstream_gene_variant SKCM-US 2 160605065 160605065 single base substitution C T downstream_gene_variant SKCM-US 2 160605065 160605065 single base substitution C T intron_variant SKCM-US 2 160605065 160605065 single base substitution C T missense_variant H366Y 1096C>T SKCM-US 2 160605065 160605065 single base substitution C T missense_variant H384Y 1150C>T SKCM-US 2 160605065 160605065 single base substitution C T missense_variant H422Y 1264C>T SKCM-US 2 160605065 160605065 single base substitution C T upstream_gene_variant SKCM-US 2 160605239 160605239 single base substitution C T downstream_gene_variant SKCM-US 2 160605239 160605239 single base substitution C T intron_variant SKCM-US 2 160605239 160605239 single base substitution C T missense_variant P424S 1270C>T SKCM-US 2 160605239 160605239 single base substitution C T missense_variant P442S 1324C>T SKCM-US 2 160605239 160605239 single base substitution C T missense_variant P480S 1438C>T SKCM-US 2 160605239 160605239 single base substitution C T upstream_gene_variant SKCM-US 2 160605254 160605254 single base substitution C T downstream_gene_variant SKCM-US 2 160605254 160605254 single base substitution C T intron_variant SKCM-US 2 160605254 160605254 single base substitution C T missense_variant R429W 1285C>T SKCM-US 2 160605254 160605254 single base substitution C T missense_variant R447W 1339C>T SKCM-US 2 160605254 160605254 single base substitution C T missense_variant R485W 1453C>T SKCM-US 2 160605254 160605254 single base substitution C T upstream_gene_variant SKCM-US 2 160605324 160605324 single base substitution C T downstream_gene_variant SKCM-US 2 160605324 160605324 single base substitution C T intron_variant SKCM-US 2 160605324 160605324 single base substitution C T missense_variant P452L 1355C>T SKCM-US 2 160605324 160605324 single base substitution C T missense_variant P470L 1409C>T SKCM-US 2 160605324 160605324 single base substitution C T missense_variant P508L 1523C>T SKCM-US 2 160605324 160605324 single base substitution C T upstream_gene_variant STAD-US 2 160602345 160602345 single base substitution A C downstream_gene_variant STAD-US 2 160602345 160602345 single base substitution A C exon_variant STAD-US 2 160602345 160602345 single base substitution A C intron_variant STAD-US 2 160602345 160602345 single base substitution A C synonymous_variant T137T 411A>C STAD-US 2 160602345 160602345 single base substitution A C synonymous_variant T99T 297A>C STAD-US 2 160605008 160605008 single base substitution C T downstream_gene_variant STAD-US 2 160605008 160605008 single base substitution C T intron_variant STAD-US 2 160605008 160605008 single base substitution C T stop_gained R347* 1039C>T STAD-US 2 160605008 160605008 single base substitution C T stop_gained R365* 1093C>T STAD-US 2 160605008 160605008 single base substitution C T stop_gained R403* 1207C>T STAD-US 2 160605008 160605008 single base substitution C T upstream_gene_variant UCEC-US 2 160585683 160585683 single base substitution T G exon_variant UCEC-US 2 160585683 160585683 single base substitution T G stop_gained Y50* 150T>G UCEC-US 2 160585683 160585683 single base substitution T G upstream_gene_variant UCEC-US 2 160604691 160604691 single base substitution G A downstream_gene_variant UCEC-US 2 160604691 160604691 single base substitution G A intron_variant UCEC-US 2 160604691 160604691 single base substitution G A missense_variant R241Q 722G>A UCEC-US 2 160604691 160604691 single base substitution G A missense_variant R259Q 776G>A UCEC-US 2 160604691 160604691 single base substitution G A missense_variant R297Q 890G>A UCEC-US 2 160604691 160604691 single base substitution G A upstream_gene_variant UCEC-US 2 160608959 160608959 single base substitution A T downstream_gene_variant UCEC-US 2 160608959 160608959 single base substitution A T exon_variant UCEC-US 2 160608959 160608959 single base substitution A T missense_variant I498F 1492A>T UCEC-US 2 160608959 160608959 single base substitution A T missense_variant I516F 1546A>T UCEC-US 2 160608959 160608959 single base substitution A T missense_variant I554F 1660A>T UCEC-US 2 160608959 160608959 single base substitution A T upstream_gene_variant UCEC-US 2 160609014 160609014 single base substitution G A downstream_gene_variant UCEC-US 2 160609014 160609014 single base substitution G A exon_variant UCEC-US 2 160609014 160609014 single base substitution G A missense_variant C516Y 1547G>A UCEC-US 2 160609014 160609014 single base substitution G A missense_variant C534Y 1601G>A UCEC-US 2 160609014 160609014 single base substitution G A missense_variant C572Y 1715G>A UCEC-US 2 160609014 160609014 single base substitution G A missense_variant C5Y 14G>A UCEC-US 2 160619503 160619503 single base substitution G A missense_variant R102Q 305G>A UCEC-US 2 160619503 160619503 single base substitution G A missense_variant R613Q 1838G>A UCEC-US 2 160619503 160619503 single base substitution G A missense_variant R631Q 1892G>A UCEC-US 2 160619503 160619503 single base substitution G A missense_variant R669Q 2006G>A UCEC-US 2 160619503 160619503 single base substitution G A splice_region_variant UCEC-US 2 160623840 160623840 single base substitution T G exon_variant UCEC-US 2 160623840 160623840 single base substitution T G missense_variant F663C 1988T>G UCEC-US 2 160623840 160623840 single base substitution T G missense_variant F701C 2102T>G UCEC-US 2 160623840 160623840 single base substitution T G missense_variant L118V 352T>G UCEC-US 2 160623840 160623840 single base substitution T G missense_variant L629V 1885T>G UCEC-US 2 160628524 160628524 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PT32 COSM5907201 c.605A>G p.N202S Substitution - Missense 2:159747895-159747895 + TCGA-F5-6814-01 COSM3425357 c.128C>A p.S43* Substitution - Nonsense 2:159729150-159729150 + YUMILAN COSM5394612 c.1445C>T p.S482F Substitution - Missense 2:159748735-159748735 + TCGA-A8-A07O-01 COSM441302 c.1349C>T p.A450V Substitution - Missense 2:159748639-159748639 + 388 COSM4427452 c.873A>G p.S291S Substitution - coding silent 2:159748163-159748163 + TCGA-66-2766-01 COSM717293 c.1412G>A p.R471K Substitution - Missense 2:159748702-159748702 + RK156_C01 COSM3701971 c.836C>A p.T279K Substitution - Missense 2:159748126-159748126 + SCC-25 COSM3300376 c.1871A>G p.H624R Substitution - Missense 2:159759313-159759313 + DLD1 COSM3300359 c.779T>C p.V260A Substitution - Missense 2:159748069-159748069 + HCT8 COSM3300359 c.779T>C p.V260A Substitution - Missense 2:159748069-159748069 + TCGA-AM-5821-01 COSM3757703 c.1011C>T p.P337P Substitution - coding silent 2:159748301-159748301 + Au2 COSM5599900 c.532C>T p.P178S Substitution - Missense 2:159747822-159747822 + PT55 COSM5941677 c.1618C>T p.L540F Substitution - Missense 2:159752406-159752406 + ESCC_118 COSM5650085 c.808_810delTCT p.S271delS Deletion - In frame 2:159748098-159748100 + GC8_T COSM148965 c.651C>T p.D217D Substitution - coding silent 2:159747941-159747941 + Pat_53_B COSM1400357 c.879delT p.S296fs*9 Deletion - Frameshift 2:159748169-159748169 + 2492702 COSM5599900 c.532C>T p.P178S Substitution - Missense 2:159747822-159747822 + PT49 COSM5934559 c.1186C>T p.P396S Substitution - Missense 2:159748476-159748476 + TCGA-GN-A26C-01 COSM3568284 c.1453C>T p.R485W Substitution - Missense 2:159748743-159748743 + TCGA-BS-A0TC-01 COSM1008172 c.150T>G p.Y50* Substitution - Nonsense 2:159729172-159729172 + WA16 COSM237704 c.654C>T p.S218S Substitution - coding silent 2:159747944-159747944 + TCGA-EE-A181-06 COSM3568281 c.1150C>A p.P384T Substitution - Missense 2:159748440-159748440 + TCGA-AM-5820-01 COSM148965 c.651C>T p.D217D Substitution - coding silent 2:159747941-159747941 + PTC-7C COSM148965 c.651C>T p.D217D Substitution - coding silent 2:159747941-159747941 + TCGA-FI-A2EW-01 COSM1008173 c.790C>T p.Q264* Substitution - Nonsense 2:159748080-159748080 + TCGA-AB-2916-03 COSM1318165 c.1009C>A p.P337T Substitution - Missense 2:159748299-159748299 + cSCCP6 COSM136279 c.128C>T p.S43L Substitution - Missense 2:159729150-159729150 + T55 COSM1400357 c.879delT p.S296fs*9 Deletion - Frameshift 2:159748169-159748169 + 20 COSM5010893 c.736T>G p.S246A Substitution - Missense 2:159748026-159748026 + TCGA-A1-A0SH-01 COSM441301 c.145G>C p.E49Q Substitution - Missense 2:159729167-159729167 + DLBCL806 COSM1580375 c.214A>G p.I72V Substitution - Missense 2:159743121-159743121 + DLBCL1021 COSM1580376 c.707G>A p.S236N Substitution - Missense 2:159747997-159747997 + BCM695T COSM3300361 c.835A>G p.T279A Substitution - Missense 2:159748125-159748125 + Pat_54_A COSM5860355 c.1467delT p.P490fs*7 Deletion - Frameshift 2:159748757-159748757 + TCGA-AP-A056-01 COSM1008174 c.890G>A p.R297Q Substitution - Missense 2:159748180-159748180 + pfg043T COSM4763246 c.500T>G p.F167C Substitution - Missense 2:159745923-159745923 + T2284 COSM4700697 c.1951G>A p.E651K Substitution - Missense 2:159762937-159762937 + HT COSM1580378 c.1669A>G p.M557V Substitution - Missense 2:159752457-159752457 + I2L-P19Tb-Tumor-Organoid COSM3300380 c.2052C>T p.L684L Substitution - coding silent 2:159764670-159764670 + ccRCC-23 COSM1662697 c.1073C>T p.S358L Substitution - Missense 2:159748363-159748363 + TCGA-B0-5400-01 COSM476087 c.777G>T p.R259S Substitution - Missense 2:159748067-159748067 + HCC2998 COSM3300353 c.630G>A p.Q210Q Substitution - coding silent 2:159747920-159747920 + 2492700 COSM5599900 c.532C>T p.P178S Substitution - Missense 2:159747822-159747822 + SNUH_G76_S1 COSM3757703 c.1011C>T p.P337P Substitution - coding silent 2:159748301-159748301 + BCM695T COSM3300361 c.835A>G p.T279A Substitution - Missense 2:159748125-159748125 + LIM2405 COSM1400357 c.879delT p.S296fs*9 Deletion - Frameshift 2:159748169-159748169 + 169 COSM3729207 c.1999C>T p.R667C Substitution - Missense 2:159762985-159762985 + BD236T COSM5518332 c.1632_1634delAGA p.E548delE Deletion - In frame 2:159752420-159752422 + HCC139 COSM1613555 c.1827G>C p.E609D Substitution - Missense 2:159759269-159759269 + TCGA-D3-A1Q1-06 COSM3568277 c.908C>A p.S303Y Substitution - Missense 2:159748198-159748198 + RK221_C01 COSM4945497 c.159A>C p.T53T Substitution - coding silent 2:159743066-159743066 + Farage COSM1580377 c.840G>T p.R280S Substitution - Missense 2:159748130-159748130 + GC7_T COSM148966 c.1219G>T p.D407Y Substitution - Missense 2:159748509-159748509 + TCGA-D3-A3MV-06 COSM3568283 c.1438C>T p.P480S Substitution - Missense 2:159748728-159748728 + 2492701 COSM5599900 c.532C>T p.P178S Substitution - Missense 2:159747822-159747822 + BK0045 COSM4187694 c.2050C>A p.L684I Substitution - Missense 2:159764668-159764668 + HCT15 COSM3300359 c.779T>C p.V260A Substitution - Missense 2:159748069-159748069 + TCGA-D3-A1Q6-06 COSM3568280 c.1010C>T p.P337L Substitution - Missense 2:159748300-159748300 + SC_9008 COSM5552338 c.1648G>A p.D550N Substitution - Missense 2:159752436-159752436 + TCGA-EE-A29M-06 COSM3568275 c.25C>T p.P9S Substitution - Missense 2:159729047-159729047 + BD242T COSM5495777 c.743G>C p.R248T Substitution - Missense 2:159748033-159748033 + LS411 COSM3300369 c.1420G>T p.G474* Substitution - Nonsense 2:159748710-159748710 + TCGA-D3-A1Q5-06 COSM3568279 c.990A>G p.V330V Substitution - coding silent 2:159748280-159748280 + TCGA-BS-A0UV-01 COSM1008178 c.2102T>G p.F701C Substitution - Missense 2:159767329-159767329 + 18D COSM1235239 c.1155G>A p.W385* Substitution - Nonsense 2:159748445-159748445 + HCC139T COSM1613555 c.1827G>C p.E609D Substitution - Missense 2:159759269-159759269 + TCGA-FW-A3R5-06 COSM3895050 c.950C>T p.S317F Substitution - Missense 2:159748240-159748240 + TCGA-BR-7958-01 COSM4085900 c.411A>C p.T137T Substitution - coding silent 2:159745834-159745834 + TCGA-BR-4184-01 COSM4085901 c.1207C>T p.R403* Substitution - Nonsense 2:159748497-159748497 + TCGA-EE-A3AE-06 COSM3568276 c.259C>T p.H87Y Substitution - Missense 2:159743166-159743166 + TCGA-A3-3362-01 COSM476088 c.1472C>A p.A491E Substitution - Missense 2:159748762-159748762 + BD124T COSM5491497 c.886T>C p.S296P Substitution - Missense 2:159748176-159748176 + RK214_C01 COSM3743931 c.1613+5A>C p.? Unknown 2:159748908-159748908 + BD236T COSM5518331 c.390G>T p.M130I Substitution - Missense 2:159745813-159745813 + LOVO COSM1400357 c.879delT p.S296fs*9 Deletion - Frameshift 2:159748169-159748169 + Pat_41_B COSM5860354 c.194C>T p.A65V Substitution - Missense 2:159743101-159743101 + TCGA-EI-6917-01 COSM3425358 c.2009T>G p.F670C Substitution - Missense 2:159764627-159764627 + TCGA-DA-A1HY-06 COSM3568282 c.1264C>T p.H422Y Substitution - Missense 2:159748554-159748554 + LUAD-YINHD COSM350388 c.517G>A p.V173I Substitution - Missense 2:159747807-159747807 + TCGA-FS-A4F0-06 COSM3568278 c.974A>G p.Q325R Substitution - Missense 2:159748264-159748264 + TCGA-DK-A3WW-01 COSM3798079 c.310G>A p.G104R Substitution - Missense 2:159743217-159743217 + PD18749a COSM5795556 c.2029C>G p.L677V Substitution - Missense 2:159764647-159764647 + TCGA-AC-A23H-01 COSM3837134 c.569C>G p.S190* Substitution - Nonsense 2:159747859-159747859 + TCGA-D8-A1J9-01 COSM1482081 c.1903G>C p.E635Q Substitution - Missense 2:159762889-159762889 + TCGA-DD-A39Z-01 COSM4916052 c.1838T>C p.L613P Substitution - Missense 2:159759280-159759280 + ESO-721 COSM717293 c.1412G>A p.R471K Substitution - Missense 2:159748702-159748702 + LUAD-NYU696 COSM376053 c.2108T>A p.I703N Substitution - Missense 2:159767335-159767335 + 258 COSM3732491 c.1444T>C p.S482P Substitution - Missense 2:159748734-159748734 + LUAD-RT-S01721 COSM380505 c.1837C>T p.L613F Substitution - Missense 2:159759279-159759279 + RK046_C01 COSM1631373 c.733A>T p.S245C Substitution - Missense 2:159748023-159748023 + SNU-C2B COSM1400357 c.879delT p.S296fs*9 Deletion - Frameshift 2:159748169-159748169 + CSCC-31-T COSM4475646 c.2005C>G p.R669G Substitution - Missense 2:159762991-159762991 + 587376 COSM1214564 c.295T>G p.C99G Substitution - Missense 2:159743202-159743202 + HCT8 COSM4634623 c.1645G>T p.G549C Substitution - Missense 2:159752433-159752433 + CSCC-60-T COSM4542132 c.312G>A p.G104G Substitution - coding silent 2:159743219-159743219 + SNU-C2B COSM3300378 c.1956A>G p.Q652Q Substitution - coding silent 2:159762942-159762942 + ESO-0292 COSM1240803 c.979C>T p.R327C Substitution - Missense 2:159748269-159748269 + MOLT-4 COSM1669321 c.1213G>T p.G405* Substitution - Nonsense 2:159748503-159748503 + CSCC-29-T COSM4519757 c.1027G>A p.E343K Substitution - Missense 2:159748317-159748317 + Sample_1 COSM5021329 c.299C>G p.T100S Substitution - Missense 2:159743206-159743206 + TCGA-B5-A11E-01 COSM1008177 c.2006G>A p.R669Q Substitution - Missense 2:159762992-159762992 + TCGA-CZ-4856-01 COSM476086 c.113A>G p.H38R Substitution - Missense 2:159729135-159729135 + TCGA-F4-6570-01 COSM1400358 c.1463T>C p.V488A Substitution - Missense 2:159748753-159748753 + CHOL11 COSM1743758 c.1492G>A p.D498N Substitution - Missense 2:159748782-159748782 + TCGA-AA-A00N-01 COSM298730 c.488G>A p.R163Q Substitution - Missense 2:159745911-159745911 + TCGA-B5-A0K3-01 COSM1008175 c.1660A>T p.I554F Substitution - Missense 2:159752448-159752448 + TCGA-D9-A6EC-06 COSM4406210 c.401C>T p.S134L Substitution - Missense 2:159745824-159745824 + T3658 COSM4700696 c.1746C>T p.D582D Substitution - coding silent 2:159752534-159752534 + HCC138T COSM5819173 c.1564A>T p.K522* Substitution - Nonsense 2:159748854-159748854 + TCGA-DK-A3IU-01 COSM3798080 c.995C>G p.S332* Substitution - Nonsense 2:159748285-159748285 + TCGA-AP-A051-01 COSM1008176 c.1715G>A p.C572Y Substitution - Missense 2:159752503-159752503 + TCGA-AM-5820-01 COSM3757704 c.1135G>A p.G379S Substitution - Missense 2:159748425-159748425 + 454 COSM4436035 c.149A>G p.Y50C Substitution - Missense 2:159729171-159729171 + T578 COSM4700695 c.470T>G p.L157R Substitution - Missense 2:159745893-159745893 + TCGA-FD-A3SS-01 COSM3798081 c.1728G>C p.L576F Substitution - Missense 2:159752516-159752516 + TCGA-EB-A5SG-06 COSM3895051 c.1523C>T p.P508L Substitution - Missense 2:159748813-159748813 + CHEWS008 COSM4582729 c.1491C>T p.T497T Substitution - coding silent 2:159748781-159748781 + ESO-732 COSM1243788 c.613T>G p.L205V Substitution - Missense 2:159747903-159747903 + I2L-P19Tb-Tumor-Biopsy COSM3300380 c.2052C>T p.L684L Substitution - coding silent 2:159764670-159764670 + HCT15 COSM3300364 c.1031C>A p.A344D Substitution - Missense 2:159748321-159748321 + 07-058 COSM3736218 c.571A>G p.M191V Substitution - Missense 2:159747861-159747861 + TCGA-AG-3586-01 COSM287930 c.277A>G p.K93E Substitution - Missense 2:159743184-159743184 + TCGA-AN-A0AK-01 COSM1400357 c.879delT p.S296fs*9 Deletion - Frameshift 2:159748169-159748169 + TCGA-AA-3510-01 COSM1400356 c.38C>A p.S13Y Substitution - Missense 2:159729060-159729060 + TCGA-A8-A0A6-01 COSM3837135 c.1407T>G p.G469G Substitution - coding silent 2:159748697-159748697 + 2492703 COSM5599900 c.532C>T p.P178S Substitution - Missense 2:159747822-159747822 + RK193_C01 COSM3743930 c.434A>G p.D145G Substitution - Missense 2:159745857-159745857 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529249;Hs.529272 2q24.2 603798;613334

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H38R c.113A>G 2 160585646 RCCC A G Missense p.K93E c.277A>G 2 160599695 COREAD A G Missense p.Q83R c.248A>G 2 160599666 BRCA A G Synonymous p.S231S c.693A>G 2 160604494 LUAD A G Synonymous p.V330V c.990A>G 2 160604791 CM A T Missense p.I554F c.1660A>T 2 160608959 UCEC A T Missense p.I592F c.1774A>T 2 160609073 CM A T Missense p.S245C c.733A>T 2 160604534 HC A T Missense p.Y315F c.944A>T 2 160604745 HNSC C A Missense p.P384T c.1150C>A 2 160604951 CM C A Missense p.S303Y c.908C>A 2 160604709 CM C G Missense p.P664A c.1990C>G 2 160619487 COREAD C G Nonsense p.S332* c.995C>G 2 160604796 BLCA C T Missense p.A450V c.1349C>T 2 160605150 BRCA C T Missense p.H422Y c.1264C>T 2 160605065 CM C T Missense p.H87Y c.259C>T 2 160599677 CM C T Missense p.P337L c.1010C>T 2 160604811 CM C T Missense p.P480S c.1438C>T 2 160605239 CM C T Missense p.P9S c.25C>T 2 160585558 CM C T Missense p.R485W c.1453C>T 2 160605254 CM C T Missense p.S179L c.536C>T 2 160604337 HNSC C T Missense p.S399F c.1196C>T 2 160604997 CM C T Nonsense p.Q15* c.43C>T 2 160585576 HNSC G A 3-UTRSNV . c.2112+32G>A 2 160623882 RCCC G A IntronicSNV . c.515-88G>A 2 160604228 PIA G A Missense p.C99Y c.296G>A 2 160599714 HNSC G A Missense p.E630K c.1888G>A 2 160615841 HNSC G A Missense p.R471K c.1412G>A 2 160605213 ESCA G A Missense p.R471K c.1412G>A 2 160605213 LUSC G A Missense p.V668I c.2002G>A 2 160619499 HNSC G C Missense p.E49Q c.145G>C 2 160585678 BRCA G C Missense p.E635Q c.1903G>C 2 160619400 BRCA G C Missense p.Q437H c.1311G>C 2 160605112 HNSC GG TT Missense p.G477L c.1429_1430delinsTT 2 160605230 THCA G T Missense p.R277L c.830G>T 2 160604631 LUAD T G Missense p.L205V c.613T>G 2 160604414 ESCA T G Nonsense p.Y50* c.150T>G 2 160585683 UCEC