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 16 2487128 2487128 + Splice_Site SNP A A T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr16:2487128A>T c.e5-1 ACC 16 2487231 2487231 + Missense_Mutation SNP T T C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr16:2487231T>C c.448T>C c.(448-450)Tgg>Cgg p.W150R ACC 16 2506732 2506732 + Missense_Mutation SNP G G A TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 g.chr16:2506732G>A c.2072G>A c.(2071-2073)cGg>cAg p.R691Q BLCA 16 2485829 2485829 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr16:2485829G>A c.301G>A c.(301-303)Gaa>Aaa p.E101K BLCA 16 2487194 2487194 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr16:2487194C>T c.411C>T c.(409-411)ctC>ctT p.L137L BLCA 16 2487288 2487288 + Missense_Mutation SNP C C A TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr16:2487288C>A c.505C>A c.(505-507)Cac>Aac p.H169N BLCA 16 2488112 2488112 + Silent SNP G G C TCGA-XF-A9SV-01A-21D-A42E-08 TCGA-XF-A9SV-10A-01D-A42H-08 g.chr16:2488112G>C c.582G>C c.(580-582)ctG>ctC p.L194L BLCA 16 2488121 2488121 + Missense_Mutation SNP C C G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr16:2488121C>G c.591C>G c.(589-591)ttC>ttG p.F197L BLCA 16 2489766 2489766 + Missense_Mutation SNP G G A TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr16:2489766G>A c.716G>A c.(715-717)cGa>cAa p.R239Q BLCA 16 2495468 2495468 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr16:2495468G>A c.939G>A c.(937-939)ctG>ctA p.L313L BLCA 16 2495528 2495528 + Silent SNP G G T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr16:2495528G>T c.999G>T c.(997-999)ctG>ctT p.L333L BLCA 16 2498903 2498903 + Missense_Mutation SNP C C T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr16:2498903C>T c.1142C>T c.(1141-1143)aCg>aTg p.T381M BLCA 16 2498934 2498934 + Silent SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr16:2498934G>A c.1173G>A c.(1171-1173)gtG>gtA p.V391V BLCA 16 2503509 2503509 + Silent SNP C C T TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr16:2503509C>T c.1686C>T c.(1684-1686)ctC>ctT p.L562L BLCA 16 2505518 2505518 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr16:2505518C>G c.1838C>G c.(1837-1839)tCt>tGt p.S613C BRCA 16 2493715 2493715 + Missense_Mutation SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 g.chr16:2493715G>C c.843G>C c.(841-843)gaG>gaC p.E281D BRCA 16 2495482 2495482 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 g.chr16:2495482T>G c.953T>G c.(952-954)gTg>gGg p.V318G BRCA 16 2495537 2495537 + Missense_Mutation SNP G G T TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr16:2495537G>T c.1008G>T c.(1006-1008)gaG>gaT p.E336D BRCA 16 2499874 2499874 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr16:2499874A>G c.1445A>G c.(1444-1446)tAt>tGt p.Y482C BRCA 16 2499889 2499889 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr16:2499889C>T c.1460C>T c.(1459-1461)cCc>cTc p.P487L CESC 16 2487306 2487306 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr16:2487306G>C c.523G>C c.(523-525)Gag>Cag p.E175Q CESC 16 2499399 2499399 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 g.chr16:2499399C>T c.1335C>T c.(1333-1335)tcC>tcT p.S445S CESC 16 2499869 2499869 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr16:2499869C>A c.1440C>A c.(1438-1440)ttC>ttA p.F480L CESC 16 2503298 2503298 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr16:2503298C>T c.1575C>T c.(1573-1575)atC>atT p.I525I COAD 16 2488101 2488101 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr16:2488101G>A c.571G>A c.(571-573)Ggc>Agc p.G191S COAD 16 2489444 2489444 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:2489444G>A c.685G>A c.(685-687)Gac>Aac p.D229N COAD 16 2493718 2493718 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:2493718C>T c.846C>T c.(844-846)atC>atT p.I282I COAD 16 2495547 2495547 + Silent SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr16:2495547C>A c.1018C>A c.(1018-1020)Cgg>Agg p.R340R COAD 16 2498892 2498892 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:2498892C>T c.1131C>T c.(1129-1131)gcC>gcT p.A377A COAD 16 2499428 2499428 + Missense_Mutation SNP C C A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr16:2499428C>A c.1364C>A c.(1363-1365)gCa>gAa p.A455E COAD 16 2503284 2503284 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr16:2503284C>T c.1561C>T c.(1561-1563)Cgc>Tgc p.R521C COAD 16 2503294 2503294 + Missense_Mutation SNP A A C TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr16:2503294A>C c.1571A>C c.(1570-1572)gAa>gCa p.E524A COAD 16 2503473 2503473 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:2503473G>A c.1650G>A c.(1648-1650)ccG>ccA p.P550P COADREAD 16 2488101 2488101 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr16:2488101G>A c.571G>A c.(571-573)Ggc>Agc p.G191S COADREAD 16 2489444 2489444 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:2489444G>A c.685G>A c.(685-687)Gac>Aac p.D229N COADREAD 16 2493718 2493718 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:2493718C>T c.846C>T c.(844-846)atC>atT p.I282I COADREAD 16 2495547 2495547 + Silent SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr16:2495547C>A c.1018C>A c.(1018-1020)Cgg>Agg p.R340R COADREAD 16 2498892 2498892 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:2498892C>T c.1131C>T c.(1129-1131)gcC>gcT p.A377A COADREAD 16 2499428 2499428 + Missense_Mutation SNP C C A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr16:2499428C>A c.1364C>A c.(1363-1365)gCa>gAa p.A455E COADREAD 16 2503284 2503284 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr16:2503284C>T c.1561C>T c.(1561-1563)Cgc>Tgc p.R521C COADREAD 16 2503294 2503294 + Missense_Mutation SNP A A C TCGA-AA-3814-01A-01W-0900-09 TCGA-AA-3814-10A-01W-0900-09 g.chr16:2503294A>C c.1571A>C c.(1570-1572)gAa>gCa p.E524A COADREAD 16 2503473 2503473 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:2503473G>A c.1650G>A c.(1648-1650)ccG>ccA p.P550P ESCA 16 2487242 2487242 + Missense_Mutation SNP C C G TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr16:2487242C>G c.459C>G c.(457-459)atC>atG p.I153M ESCA 16 2487250 2487250 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr16:2487250C>T c.467C>T c.(466-468)cCg>cTg p.P156L ESCA 16 2499297 2499297 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr16:2499297G>T c.1233G>T c.(1231-1233)gtG>gtT p.V411V ESCA 16 2499426 2499426 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr16:2499426C>T c.1362C>T c.(1360-1362)gcC>gcT p.A454A ESCA 16 2505474 2505474 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr16:2505474G>T c.1794G>T c.(1792-1794)gaG>gaT p.E598D GBM 16 2506722 2506722 + Missense_Mutation SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr16:2506722C>T c.2062C>T c.(2062-2064)Cgc>Tgc p.R688C GBMLGG 16 2498892 2498892 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2498892C>T c.1131C>T c.(1129-1131)gcC>gcT p.A377A GBMLGG 16 2498903 2498903 + Missense_Mutation SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 g.chr16:2498903C>T c.1142C>T c.(1141-1143)aCg>aTg p.T381M GBMLGG 16 2499351 2499351 + Missense_Mutation SNP C C A TCGA-DU-7013-01A-11D-2024-08 TCGA-DU-7013-10A-01D-2024-08 g.chr16:2499351C>A c.1287C>A c.(1285-1287)caC>caA p.H429Q GBMLGG 16 2506722 2506722 + Missense_Mutation SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr16:2506722C>T c.2062C>T c.(2062-2064)Cgc>Tgc p.R688C GBMLGG 16 2506782 2506782 + Missense_Mutation SNP G G A TCGA-QH-A65R-01A-21D-A31L-08 TCGA-QH-A65R-10A-01D-A31J-08 g.chr16:2506782G>A c.2122G>A c.(2122-2124)Gca>Aca p.A708T HNSC 16 2481177 2481177 + Frame_Shift_Del DEL A A - TCGA-HD-A634-01A-11D-A28R-08 TCGA-HD-A634-10A-01D-A28U-08 g.chr16:2481177delA c.63delA c.(61-63)cgafs p.R22fs HNSC 16 2482998 2482998 + Missense_Mutation SNP G G C TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr16:2482998G>C c.208G>C c.(208-210)Gcc>Ccc p.A70P HNSC 16 2483041 2483041 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 g.chr16:2483041C>T c.251C>T c.(250-252)tCt>tTt p.S84F HNSC 16 2487144 2487144 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr16:2487144G>A c.361G>A c.(361-363)Gag>Aag p.E121K HNSC 16 2493727 2493727 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr16:2493727G>T c.855G>T c.(853-855)caG>caT p.Q285H HNSC 16 2495538 2495538 + Missense_Mutation SNP T T C TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr16:2495538T>C c.1009T>C c.(1009-1011)Tgt>Cgt p.C337R HNSC 16 2495573 2495573 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 g.chr16:2495573G>A c.1044G>A c.(1042-1044)ccG>ccA p.P348P HNSC 16 2498953 2498953 + Missense_Mutation SNP G G T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 g.chr16:2498953G>T c.1192G>T c.(1192-1194)Gtc>Ttc p.V398F HNSC 16 2499298 2499298 + Missense_Mutation SNP G G T TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr16:2499298G>T c.1234G>T c.(1234-1236)Gat>Tat p.D412Y HNSC 16 2499864 2499864 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 g.chr16:2499864G>A c.1435G>A c.(1435-1437)Gga>Aga p.G479R KIPAN 16 2481270 2481270 + Silent SNP C C T TCGA-CZ-4853-01A-01D-1429-08 TCGA-CZ-4853-11A-01D-1429-08 g.chr16:2481270C>T c.156C>T c.(154-156)atC>atT p.I52I KIPAN 16 2503516 2503516 + Missense_Mutation SNP C C T TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr16:2503516C>T c.1693C>T c.(1693-1695)Ccc>Tcc p.P565S KIPAN 16 2506613 2506613 + Silent SNP G G A TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr16:2506613G>A c.1953G>A c.(1951-1953)caG>caA p.Q651Q KIPAN 16 2506955 2506955 + Silent SNP G G A TCGA-B8-4622-01A-02D-1553-08 TCGA-B8-4622-11A-01D-1553-08 g.chr16:2506955G>A c.2295G>A c.(2293-2295)gtG>gtA p.V765V KIRC 16 2481270 2481270 + Silent SNP C C T TCGA-CZ-4853-01A-01D-1429-08 TCGA-CZ-4853-11A-01D-1429-08 g.chr16:2481270C>T c.156C>T c.(154-156)atC>atT p.I52I KIRC 16 2503516 2503516 + Missense_Mutation SNP C C T TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr16:2503516C>T c.1693C>T c.(1693-1695)Ccc>Tcc p.P565S KIRC 16 2506613 2506613 + Silent SNP G G A TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr16:2506613G>A c.1953G>A c.(1951-1953)caG>caA p.Q651Q KIRC 16 2506955 2506955 + Silent SNP G G A TCGA-B8-4622-01A-02D-1553-08 TCGA-B8-4622-11A-01D-1553-08 g.chr16:2506955G>A c.2295G>A c.(2293-2295)gtG>gtA p.V765V LGG 16 2498892 2498892 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2498892C>T c.1131C>T c.(1129-1131)gcC>gcT p.A377A LGG 16 2498903 2498903 + Missense_Mutation SNP C C T TCGA-S9-A7R2-01A-21D-A34J-08 TCGA-S9-A7R2-10A-01D-A34M-08 g.chr16:2498903C>T c.1142C>T c.(1141-1143)aCg>aTg p.T381M LGG 16 2499351 2499351 + Missense_Mutation SNP C C A TCGA-DU-7013-01A-11D-2024-08 TCGA-DU-7013-10A-01D-2024-08 g.chr16:2499351C>A c.1287C>A c.(1285-1287)caC>caA p.H429Q LGG 16 2506782 2506782 + Missense_Mutation SNP G G A TCGA-QH-A65R-01A-21D-A31L-08 TCGA-QH-A65R-10A-01D-A31J-08 g.chr16:2506782G>A c.2122G>A c.(2122-2124)Gca>Aca p.A708T LIHC 16 2483037 2483037 + Missense_Mutation SNP C C A TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr16:2483037C>A c.247C>A c.(247-249)Ccg>Acg p.P83T LIHC 16 2487180 2487180 + Missense_Mutation SNP C C T TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr16:2487180C>T c.397C>T c.(397-399)Cgc>Tgc p.R133C LIHC 16 2499281 2499281 + Splice_Site SNP A A T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr16:2499281A>T c.e12-1 LIHC 16 2499459 2499459 + Silent SNP G G T TCGA-CC-A7IF-01A-11D-A33K-10 TCGA-CC-A7IF-10A-01D-A33K-10 g.chr16:2499459G>T c.1395G>T c.(1393-1395)ggG>ggT p.G465G LIHC 16 2503452 2503452 + Silent SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr16:2503452A>G c.1629A>G c.(1627-1629)acA>acG p.T543T LUAD 16 2481129 2481129 + Splice_Site SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr16:2481129A>T c.e2-1 LUAD 16 2481210 2481210 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr16:2481210C>G c.96C>G c.(94-96)atC>atG p.I32M LUAD 16 2489405 2489405 + Nonsense_Mutation SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr16:2489405C>T c.646C>T c.(646-648)Cag>Tag p.Q216* LUAD 16 2499292 2499292 + Missense_Mutation SNP G G A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr16:2499292G>A c.1228G>A c.(1228-1230)Gtg>Atg p.V410M LUAD 16 2503251 2503251 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr16:2503251C>G c.1528C>G c.(1528-1530)Ctg>Gtg p.L510V LUAD 16 2505547 2505547 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr16:2505547G>C c.1867G>C c.(1867-1869)Ggc>Cgc p.G623R LUSC 16 2503520 2503520 + Missense_Mutation SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr16:2503520C>T c.1697C>T c.(1696-1698)tCg>tTg p.S566L LUSC 16 2505515 2505515 + Missense_Mutation SNP G G T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr16:2505515G>T c.1835G>T c.(1834-1836)tGc>tTc p.C612F OV 16 2495506 2495506 + Missense_Mutation SNP T T C TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr16:2495506T>C c.977T>C c.(976-978)tTc>tCc p.F326S PAAD 16 2495532 2495532 + Missense_Mutation SNP G G T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 g.chr16:2495532G>T c.1003G>T c.(1003-1005)Gtg>Ttg p.V335L PAAD 16 2499376 2499376 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:2499376T>C c.1312T>C c.(1312-1314)Tcc>Ccc p.S438P PRAD 16 2498959 2498959 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:2498959G>A c.1198G>A c.(1198-1200)Gcc>Acc p.A400T PRAD 16 2506607 2506607 + Silent SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 g.chr16:2506607C>T c.1947C>T c.(1945-1947)tgC>tgT p.C649C PRAD 16 2506639 2506639 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 g.chr16:2506639C>T c.1979C>T c.(1978-1980)cCa>cTa p.P660L SARC 16 2505464 2505464 + Missense_Mutation SNP G G T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr16:2505464G>T c.1784G>T c.(1783-1785)aGc>aTc p.S595I SARC 16 2506847 2506847 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr16:2506847C>T c.2187C>T c.(2185-2187)tcC>tcT p.S729S SKCM 16 2483003 2483003 + Missense_Mutation SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr16:2483003T>G c.213T>G c.(211-213)agT>agG p.S71R SKCM 16 2485844 2485844 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr16:2485844C>T c.316C>T c.(316-318)Ctg>Ttg p.L106L SKCM 16 2488085 2488085 + Silent SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr16:2488085C>T c.555C>T c.(553-555)tcC>tcT p.S185S SKCM 16 2489771 2489771 + Missense_Mutation SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr16:2489771C>T c.721C>T c.(721-723)Ctc>Ttc p.L241F SKCM 16 2493679 2493680 + In_Frame_Ins INS - - AAC TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr16:2493679_2493680insAAC c.807_808insAAC c.(808-810)aac>AACaac p.270_270N>NN SKCM 16 2493718 2493718 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr16:2493718C>T c.846C>T c.(844-846)atC>atT p.I282I SKCM 16 2493771 2493771 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr16:2493771C>T c.899C>T c.(898-900)tCc>tTc p.S300F SKCM 16 2495514 2495514 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr16:2495514C>T c.985C>T c.(985-987)Ctg>Ttg p.L329L SKCM 16 2498891 2498891 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:2498891C>T c.1130C>T c.(1129-1131)gCc>gTc p.A377V SKCM 16 2499286 2499286 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr16:2499286C>T c.1222C>T c.(1222-1224)Ccc>Tcc p.P408S SKCM 16 2503215 2503215 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr16:2503215C>T c.1492C>T c.(1492-1494)Cat>Tat p.H498Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 16 2495482 2495482 single base substitution T G 3_prime_UTR_variant BLCA-CN 16 2495482 2495482 single base substitution T G exon_variant BLCA-CN 16 2495482 2495482 single base substitution T G missense_variant V318G 953T>G BLCA-US 16 2485829 2485829 single base substitution G A 3_prime_UTR_variant BLCA-US 16 2485829 2485829 single base substitution G A exon_variant BLCA-US 16 2485829 2485829 single base substitution G A missense_variant E101K 301G>A BLCA-US 16 2485829 2485829 single base substitution G A upstream_gene_variant BLCA-US 16 2495468 2495468 single base substitution G A 3_prime_UTR_variant BLCA-US 16 2495468 2495468 single base substitution G A exon_variant BLCA-US 16 2495468 2495468 single base substitution G A synonymous_variant L313L 939G>A BLCA-US 16 2510687 2510687 single base substitution C T downstream_gene_variant BOCA-FR 16 2477769 2477769 single base substitution T A upstream_gene_variant BRCA-EU 16 2475233 2475233 single base substitution G A upstream_gene_variant BRCA-EU 16 2476009 2476009 single base substitution G T upstream_gene_variant BRCA-EU 16 2476395 2476395 single base substitution G A upstream_gene_variant BRCA-EU 16 2476595 2476595 single base substitution T C upstream_gene_variant BRCA-EU 16 2476817 2476817 single base substitution C T upstream_gene_variant BRCA-EU 16 2476912 2476912 single base substitution T C upstream_gene_variant BRCA-EU 16 2477240 2477240 single base substitution C T upstream_gene_variant BRCA-EU 16 2478208 2478208 single base substitution C G upstream_gene_variant BRCA-EU 16 2478759 2478759 single base substitution C T upstream_gene_variant BRCA-EU 16 2479241 2479241 single base substitution A G upstream_gene_variant BRCA-EU 16 2479272 2479272 single base substitution T C upstream_gene_variant BRCA-EU 16 2479455 2479455 single base substitution C A 5_prime_UTR_variant BRCA-EU 16 2479455 2479455 single base substitution C A exon_variant BRCA-EU 16 2480392 2480392 single base substitution G A intron_variant BRCA-EU 16 2481439 2481439 single base substitution G A intron_variant BRCA-EU 16 2481439 2481439 single base substitution G A upstream_gene_variant BRCA-EU 16 2482883 2482883 single base substitution C G intron_variant BRCA-EU 16 2482883 2482883 single base substitution C G upstream_gene_variant BRCA-EU 16 2483843 2483843 single base substitution C G intron_variant BRCA-EU 16 2483843 2483843 single base substitution C G upstream_gene_variant BRCA-EU 16 2485327 2485327 single base substitution C T intron_variant BRCA-EU 16 2485327 2485327 single base substitution C T upstream_gene_variant BRCA-EU 16 2486388 2486388 single base substitution C G downstream_gene_variant BRCA-EU 16 2486388 2486388 single base substitution C G exon_variant BRCA-EU 16 2486388 2486388 single base substitution C G intron_variant BRCA-EU 16 2486415 2486415 single base substitution C G downstream_gene_variant BRCA-EU 16 2486415 2486415 single base substitution C G exon_variant BRCA-EU 16 2486415 2486415 single base substitution C G intron_variant BRCA-EU 16 2490304 2490304 single base substitution G C downstream_gene_variant BRCA-EU 16 2490304 2490304 single base substitution G C intron_variant BRCA-EU 16 2490304 2490304 single base substitution G C upstream_gene_variant BRCA-EU 16 2490598 2490598 single base substitution G T downstream_gene_variant BRCA-EU 16 2490598 2490598 single base substitution G T intron_variant BRCA-EU 16 2490598 2490598 single base substitution G T upstream_gene_variant BRCA-EU 16 2491246 2491246 insertion of <=200bp - G downstream_gene_variant BRCA-EU 16 2491246 2491246 insertion of <=200bp - G intron_variant BRCA-EU 16 2491246 2491246 insertion of <=200bp - G upstream_gene_variant BRCA-EU 16 2491430 2491430 single base substitution G A downstream_gene_variant BRCA-EU 16 2491430 2491430 single base substitution G A intron_variant BRCA-EU 16 2491430 2491430 single base substitution G A upstream_gene_variant BRCA-EU 16 2491462 2491462 single base substitution C G downstream_gene_variant BRCA-EU 16 2491462 2491462 single base substitution C G intron_variant BRCA-EU 16 2491462 2491462 single base substitution C G upstream_gene_variant BRCA-EU 16 2491476 2491476 single base substitution G C downstream_gene_variant BRCA-EU 16 2491476 2491476 single base substitution G C intron_variant BRCA-EU 16 2491476 2491476 single base substitution G C upstream_gene_variant BRCA-EU 16 2491608 2491608 single base substitution C G downstream_gene_variant BRCA-EU 16 2491608 2491608 single base substitution C G intron_variant BRCA-EU 16 2491608 2491608 single base substitution C G upstream_gene_variant BRCA-EU 16 2492041 2492041 single base substitution C G downstream_gene_variant BRCA-EU 16 2492041 2492041 single base substitution C G intron_variant BRCA-EU 16 2492041 2492041 single base substitution C G upstream_gene_variant BRCA-EU 16 2492293 2492293 single base substitution C T downstream_gene_variant BRCA-EU 16 2492293 2492293 single base substitution C T intron_variant BRCA-EU 16 2492293 2492293 single base substitution C T upstream_gene_variant BRCA-EU 16 2495374 2495374 single base substitution C T intron_variant BRCA-EU 16 2496145 2496145 single base substitution C T intron_variant BRCA-EU 16 2496620 2496620 single base substitution C G intron_variant BRCA-EU 16 2497368 2497368 single base substitution G A intron_variant BRCA-EU 16 2497504 2497504 single base substitution G A intron_variant BRCA-EU 16 2497584 2497584 single base substitution C G intron_variant BRCA-EU 16 2497585 2497585 deletion of <=200bp A - intron_variant BRCA-EU 16 2498174 2498174 single base substitution C T intron_variant BRCA-EU 16 2498200 2498200 single base substitution C G intron_variant BRCA-EU 16 2498208 2498208 single base substitution A G intron_variant BRCA-EU 16 2498519 2498519 single base substitution C T intron_variant BRCA-EU 16 2499150 2499150 single base substitution C G exon_variant BRCA-EU 16 2499150 2499150 single base substitution C G intron_variant BRCA-EU 16 2501226 2501226 single base substitution C T downstream_gene_variant BRCA-EU 16 2501226 2501226 single base substitution C T intron_variant BRCA-EU 16 2502275 2502275 single base substitution C T downstream_gene_variant BRCA-EU 16 2502275 2502275 single base substitution C T intron_variant BRCA-EU 16 2502335 2502335 single base substitution C G downstream_gene_variant BRCA-EU 16 2502335 2502335 single base substitution C G intron_variant BRCA-EU 16 2502733 2502733 single base substitution A G downstream_gene_variant BRCA-EU 16 2502733 2502733 single base substitution A G intron_variant BRCA-EU 16 2503285 2503285 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 2503285 2503285 single base substitution G A downstream_gene_variant BRCA-EU 16 2503285 2503285 single base substitution G A missense_variant R521H 1562G>A BRCA-EU 16 2504984 2504984 single base substitution C T intron_variant BRCA-EU 16 2505107 2505107 single base substitution G C intron_variant BRCA-EU 16 2505582 2505582 single base substitution G A intron_variant BRCA-EU 16 2506396 2506396 single base substitution C A intron_variant BRCA-EU 16 2508023 2508023 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 2508262 2508262 single base substitution T A 3_prime_UTR_variant BRCA-EU 16 2508425 2508425 single base substitution A G 3_prime_UTR_variant BRCA-EU 16 2508552 2508552 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 2509015 2509015 single base substitution C G downstream_gene_variant BRCA-EU 16 2509444 2509444 single base substitution C T downstream_gene_variant BRCA-EU 16 2509487 2509487 single base substitution C G downstream_gene_variant BRCA-EU 16 2510090 2510090 single base substitution C A downstream_gene_variant BRCA-EU 16 2510601 2510601 single base substitution G A downstream_gene_variant BRCA-EU 16 2511997 2511997 single base substitution G A downstream_gene_variant BRCA-EU 16 2512320 2512320 single base substitution G T downstream_gene_variant BRCA-FR 16 2475357 2475357 single base substitution C T upstream_gene_variant BRCA-FR 16 2478208 2478208 single base substitution C G upstream_gene_variant BRCA-FR 16 2481456 2481456 single base substitution G T intron_variant BRCA-FR 16 2481456 2481456 single base substitution G T upstream_gene_variant BRCA-FR 16 2483508 2483508 single base substitution C T intron_variant BRCA-FR 16 2483508 2483508 single base substitution C T upstream_gene_variant BRCA-FR 16 2484170 2484170 single base substitution G A intron_variant BRCA-FR 16 2484170 2484170 single base substitution G A upstream_gene_variant BRCA-FR 16 2486388 2486388 single base substitution C G downstream_gene_variant BRCA-FR 16 2486388 2486388 single base substitution C G exon_variant BRCA-FR 16 2486388 2486388 single base substitution C G intron_variant BRCA-FR 16 2491476 2491476 single base substitution G C downstream_gene_variant BRCA-FR 16 2491476 2491476 single base substitution G C intron_variant BRCA-FR 16 2491476 2491476 single base substitution G C upstream_gene_variant BRCA-FR 16 2505255 2505255 single base substitution C A intron_variant BRCA-FR 16 2508701 2508701 single base substitution C T 3_prime_UTR_variant BRCA-FR 16 2510601 2510601 single base substitution G A downstream_gene_variant BRCA-FR 16 2512320 2512320 single base substitution G T downstream_gene_variant BRCA-UK 16 2474833 2474833 single base substitution C T upstream_gene_variant BRCA-UK 16 2476912 2476912 single base substitution T C upstream_gene_variant BRCA-UK 16 2491430 2491430 single base substitution G A downstream_gene_variant BRCA-UK 16 2491430 2491430 single base substitution G A intron_variant BRCA-UK 16 2491430 2491430 single base substitution G A upstream_gene_variant BRCA-UK 16 2501452 2501452 single base substitution C G downstream_gene_variant BRCA-UK 16 2501452 2501452 single base substitution C G intron_variant BRCA-UK 16 2501534 2501534 single base substitution C T downstream_gene_variant BRCA-UK 16 2501534 2501534 single base substitution C T intron_variant BRCA-UK 16 2501847 2501847 single base substitution C G downstream_gene_variant BRCA-UK 16 2501847 2501847 single base substitution C G intron_variant BRCA-UK 16 2502079 2502079 single base substitution C G downstream_gene_variant BRCA-UK 16 2502079 2502079 single base substitution C G intron_variant BRCA-UK 16 2502275 2502275 single base substitution C T downstream_gene_variant BRCA-UK 16 2502275 2502275 single base substitution C T intron_variant BRCA-UK 16 2503131 2503131 single base substitution C A downstream_gene_variant BRCA-UK 16 2503131 2503131 single base substitution C A intron_variant BRCA-UK 16 2503179 2503179 single base substitution C T downstream_gene_variant BRCA-UK 16 2503179 2503179 single base substitution C T intron_variant BRCA-UK 16 2503509 2503509 single base substitution C A 3_prime_UTR_variant BRCA-UK 16 2503509 2503509 single base substitution C A downstream_gene_variant BRCA-UK 16 2503509 2503509 single base substitution C A synonymous_variant L562L 1686C>A BRCA-UK 16 2503845 2503845 single base substitution C A downstream_gene_variant BRCA-UK 16 2503845 2503845 single base substitution C A intron_variant BRCA-UK 16 2503865 2503865 single base substitution C G downstream_gene_variant BRCA-UK 16 2503865 2503865 single base substitution C G intron_variant BRCA-UK 16 2504106 2504106 single base substitution C G downstream_gene_variant BRCA-UK 16 2504106 2504106 single base substitution C G intron_variant BRCA-UK 16 2505114 2505114 single base substitution C G intron_variant BRCA-UK 16 2505582 2505582 single base substitution G A intron_variant BRCA-UK 16 2506556 2506556 single base substitution C T 3_prime_UTR_variant BRCA-UK 16 2506556 2506556 single base substitution C T synonymous_variant P632P 1896C>T BRCA-UK 16 2509365 2509365 single base substitution C T downstream_gene_variant BRCA-UK 16 2512944 2512944 single base substitution C T downstream_gene_variant BRCA-US 16 2493715 2493715 single base substitution G C 3_prime_UTR_variant BRCA-US 16 2493715 2493715 single base substitution G C exon_variant BRCA-US 16 2493715 2493715 single base substitution G C missense_variant E281D 843G>C BRCA-US 16 2495482 2495482 single base substitution T G 3_prime_UTR_variant BRCA-US 16 2495482 2495482 single base substitution T G exon_variant BRCA-US 16 2495482 2495482 single base substitution T G missense_variant V318G 953T>G BRCA-US 16 2495537 2495537 single base substitution G T 3_prime_UTR_variant BRCA-US 16 2495537 2495537 single base substitution G T exon_variant BRCA-US 16 2495537 2495537 single base substitution G T missense_variant E336D 1008G>T BRCA-US 16 2499874 2499874 single base substitution A G 3_prime_UTR_variant BRCA-US 16 2499874 2499874 single base substitution A G missense_variant Y482C 1445A>G BRCA-US 16 2499889 2499889 single base substitution C T 3_prime_UTR_variant BRCA-US 16 2499889 2499889 single base substitution C T downstream_gene_variant BRCA-US 16 2499889 2499889 single base substitution C T missense_variant P487L 1460C>T BRCA-US 16 2510695 2510695 single base substitution G C downstream_gene_variant BRCA-US 16 2510820 2510820 single base substitution G A downstream_gene_variant BRCA-US 16 2510938 2510938 single base substitution G A downstream_gene_variant BRCA-US 16 2512165 2512165 single base substitution C G downstream_gene_variant BRCA-US 16 2512471 2512471 single base substitution G A downstream_gene_variant BTCA-JP 16 2481117 2481117 deletion of <=200bp T - intron_variant BTCA-JP 16 2481117 2481117 deletion of <=200bp T - upstream_gene_variant BTCA-JP 16 2481176 2481176 single base substitution G A exon_variant BTCA-JP 16 2481176 2481176 single base substitution G A missense_variant R21Q 62G>A BTCA-JP 16 2481176 2481176 single base substitution G A upstream_gene_variant BTCA-JP 16 2487219 2487219 single base substitution G A 3_prime_UTR_variant BTCA-JP 16 2487219 2487219 single base substitution G A downstream_gene_variant BTCA-JP 16 2487219 2487219 single base substitution G A exon_variant BTCA-JP 16 2487219 2487219 single base substitution G A missense_variant A146T 436G>A BTCA-JP 16 2489533 2489533 single base substitution T G downstream_gene_variant BTCA-JP 16 2489533 2489533 single base substitution T G intron_variant BTCA-JP 16 2489533 2489533 single base substitution T G upstream_gene_variant BTCA-JP 16 2503223 2503223 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 2503223 2503223 single base substitution C T downstream_gene_variant BTCA-JP 16 2503223 2503223 single base substitution C T synonymous_variant D500D 1500C>T BTCA-JP 16 2506723 2506723 single base substitution G A 3_prime_UTR_variant BTCA-JP 16 2506723 2506723 single base substitution G A missense_variant R688H 2063G>A BTCA-JP 16 2512471 2512471 single base substitution G A downstream_gene_variant CESC-US 16 2487306 2487306 single base substitution G C 3_prime_UTR_variant CESC-US 16 2487306 2487306 single base substitution G C downstream_gene_variant CESC-US 16 2487306 2487306 single base substitution G C exon_variant CESC-US 16 2487306 2487306 single base substitution G C missense_variant E175Q 523G>C CESC-US 16 2499399 2499399 single base substitution C T 3_prime_UTR_variant CESC-US 16 2499399 2499399 single base substitution C T synonymous_variant S445S 1335C>T CESC-US 16 2499869 2499869 single base substitution C A 3_prime_UTR_variant CESC-US 16 2499869 2499869 single base substitution C A missense_variant F480L 1440C>A CESC-US 16 2503298 2503298 single base substitution C T 3_prime_UTR_variant CESC-US 16 2503298 2503298 single base substitution C T downstream_gene_variant CESC-US 16 2503298 2503298 single base substitution C T synonymous_variant I525I 1575C>T CLLE-ES 16 2501485 2501485 single base substitution C T downstream_gene_variant CLLE-ES 16 2501485 2501485 single base substitution C T intron_variant CLLE-ES 16 2503775 2503775 single base substitution G A downstream_gene_variant CLLE-ES 16 2503775 2503775 single base substitution G A intron_variant COAD-US 16 2489444 2489444 single base substitution G A 3_prime_UTR_variant COAD-US 16 2489444 2489444 single base substitution G A downstream_gene_variant COAD-US 16 2489444 2489444 single base substitution G A missense_variant D229N 685G>A COAD-US 16 2489444 2489444 single base substitution G A upstream_gene_variant COAD-US 16 2493718 2493718 single base substitution C T 3_prime_UTR_variant COAD-US 16 2493718 2493718 single base substitution C T exon_variant COAD-US 16 2493718 2493718 single base substitution C T synonymous_variant I282I 846C>T COAD-US 16 2495547 2495547 single base substitution C A 3_prime_UTR_variant COAD-US 16 2495547 2495547 single base substitution C A exon_variant COAD-US 16 2495547 2495547 single base substitution C A synonymous_variant R340R 1018C>A COAD-US 16 2498892 2498892 single base substitution C T 3_prime_UTR_variant COAD-US 16 2498892 2498892 single base substitution C T exon_variant COAD-US 16 2498892 2498892 single base substitution C T synonymous_variant A377A 1131C>T COAD-US 16 2499428 2499428 single base substitution C A 3_prime_UTR_variant COAD-US 16 2499428 2499428 single base substitution C A missense_variant A455E 1364C>A COAD-US 16 2503284 2503284 single base substitution C T 3_prime_UTR_variant COAD-US 16 2503284 2503284 single base substitution C T downstream_gene_variant COAD-US 16 2503284 2503284 single base substitution C T missense_variant R521C 1561C>T COAD-US 16 2510928 2510928 deletion of <=200bp C - downstream_gene_variant COAD-US 16 2512523 2512523 single base substitution G A downstream_gene_variant COAD-US 16 2512631 2512631 single base substitution G A downstream_gene_variant COCA-CN 16 2485669 2485669 single base substitution T C intron_variant COCA-CN 16 2485669 2485669 single base substitution T C upstream_gene_variant COCA-CN 16 2485681 2485681 single base substitution T C intron_variant COCA-CN 16 2485681 2485681 single base substitution T C upstream_gene_variant COCA-CN 16 2485683 2485683 single base substitution T C intron_variant COCA-CN 16 2485683 2485683 single base substitution T C upstream_gene_variant COCA-CN 16 2485803 2485803 single base substitution T A intron_variant COCA-CN 16 2485803 2485803 single base substitution T A splice_region_variant COCA-CN 16 2485803 2485803 single base substitution T A upstream_gene_variant COCA-CN 16 2487984 2487984 single base substitution C A downstream_gene_variant COCA-CN 16 2487984 2487984 single base substitution C A intron_variant COCA-CN 16 2488013 2488013 single base substitution G T downstream_gene_variant COCA-CN 16 2488013 2488013 single base substitution G T intron_variant COCA-CN 16 2498946 2498946 single base substitution C T 3_prime_UTR_variant COCA-CN 16 2498946 2498946 single base substitution C T exon_variant COCA-CN 16 2498946 2498946 single base substitution C T synonymous_variant G395G 1185C>T COCA-CN 16 2499768 2499768 single base substitution G A intron_variant COCA-CN 16 2499777 2499777 single base substitution A G intron_variant COCA-CN 16 2503501 2503501 single base substitution G A 3_prime_UTR_variant COCA-CN 16 2503501 2503501 single base substitution G A downstream_gene_variant COCA-CN 16 2503501 2503501 single base substitution G A missense_variant A560T 1678G>A COCA-CN 16 2506561 2506561 single base substitution G A 3_prime_UTR_variant COCA-CN 16 2506561 2506561 single base substitution G A missense_variant G634D 1901G>A COCA-CN 16 2506829 2506829 single base substitution A G 3_prime_UTR_variant COCA-CN 16 2506829 2506829 single base substitution A G synonymous_variant Q723Q 2169A>G COCA-CN 16 2511306 2511306 single base substitution G T downstream_gene_variant COCA-CN 16 2511873 2511873 single base substitution C T downstream_gene_variant COCA-CN 16 2511889 2511889 single base substitution G T downstream_gene_variant EOPC-DE 16 2485903 2485903 single base substitution C T exon_variant EOPC-DE 16 2485903 2485903 single base substitution C T intron_variant EOPC-DE 16 2485903 2485903 single base substitution C T upstream_gene_variant ESAD-UK 16 2474868 2474868 single base substitution C T upstream_gene_variant ESAD-UK 16 2475414 2475414 single base substitution A T upstream_gene_variant ESAD-UK 16 2476740 2476740 single base substitution C G upstream_gene_variant ESAD-UK 16 2479784 2479784 single base substitution G A intron_variant ESAD-UK 16 2484435 2484435 single base substitution G C intron_variant ESAD-UK 16 2484435 2484435 single base substitution G C upstream_gene_variant ESAD-UK 16 2484561 2484561 single base substitution G A intron_variant ESAD-UK 16 2484561 2484561 single base substitution G A upstream_gene_variant ESAD-UK 16 2489265 2489265 single base substitution C T downstream_gene_variant ESAD-UK 16 2489265 2489265 single base substitution C T intron_variant ESAD-UK 16 2489265 2489265 single base substitution C T upstream_gene_variant ESAD-UK 16 2491245 2491245 single base substitution A G downstream_gene_variant ESAD-UK 16 2491245 2491245 single base substitution A G intron_variant ESAD-UK 16 2491245 2491245 single base substitution A G upstream_gene_variant ESAD-UK 16 2491838 2491838 single base substitution A G downstream_gene_variant ESAD-UK 16 2491838 2491838 single base substitution A G intron_variant ESAD-UK 16 2491838 2491838 single base substitution A G upstream_gene_variant ESAD-UK 16 2494223 2494223 single base substitution G C intron_variant ESAD-UK 16 2496145 2496145 single base substitution C T intron_variant ESAD-UK 16 2496596 2496596 single base substitution G A intron_variant ESAD-UK 16 2498149 2498149 single base substitution A T intron_variant ESAD-UK 16 2500955 2500955 single base substitution C T downstream_gene_variant ESAD-UK 16 2500955 2500955 single base substitution C T intron_variant ESAD-UK 16 2504242 2504242 single base substitution C T downstream_gene_variant ESAD-UK 16 2504242 2504242 single base substitution C T intron_variant ESAD-UK 16 2504291 2504291 single base substitution C A downstream_gene_variant ESAD-UK 16 2504291 2504291 single base substitution C A intron_variant ESAD-UK 16 2505222 2505222 single base substitution T C intron_variant ESAD-UK 16 2512573 2512573 single base substitution T C downstream_gene_variant GBM-US 16 2512205 2512205 single base substitution G A downstream_gene_variant KIRC-US 16 2481270 2481270 single base substitution C T exon_variant KIRC-US 16 2481270 2481270 single base substitution C T synonymous_variant I52I 156C>T KIRC-US 16 2481270 2481270 single base substitution C T upstream_gene_variant KIRC-US 16 2503516 2503516 single base substitution C T 3_prime_UTR_variant KIRC-US 16 2503516 2503516 single base substitution C T downstream_gene_variant KIRC-US 16 2503516 2503516 single base substitution C T missense_variant P565S 1693C>T KIRC-US 16 2506613 2506613 single base substitution G A 3_prime_UTR_variant KIRC-US 16 2506613 2506613 single base substitution G A synonymous_variant Q651Q 1953G>A KIRC-US 16 2506955 2506955 single base substitution G A 3_prime_UTR_variant KIRC-US 16 2506955 2506955 single base substitution G A synonymous_variant V765V 2295G>A KIRP-US 16 2511752 2511752 single base substitution C T downstream_gene_variant LAML-KR 16 2494628 2494628 single base substitution G T intron_variant LAML-KR 16 2499777 2499777 single base substitution A G intron_variant LAML-KR 16 2499786 2499786 single base substitution G A intron_variant LAML-KR 16 2513300 2513300 single base substitution C T downstream_gene_variant LGG-US 16 2499351 2499351 single base substitution C A 3_prime_UTR_variant LGG-US 16 2499351 2499351 single base substitution C A missense_variant H429Q 1287C>A LICA-CN 16 2499401 2499401 single base substitution C G 3_prime_UTR_variant LICA-CN 16 2499401 2499401 single base substitution C G missense_variant A446G 1337C>G LICA-FR 16 2487905 2487905 deletion of <=200bp A - downstream_gene_variant LICA-FR 16 2487905 2487905 deletion of <=200bp A - exon_variant LICA-FR 16 2487905 2487905 deletion of <=200bp A - intron_variant LICA-FR 16 2488079 2488079 single base substitution A G 3_prime_UTR_variant LICA-FR 16 2488079 2488079 single base substitution A G downstream_gene_variant LICA-FR 16 2488079 2488079 single base substitution A G synonymous_variant K183K 549A>G LICA-FR 16 2488125 2488125 single base substitution G A downstream_gene_variant LICA-FR 16 2488125 2488125 single base substitution G A splice_donor_variant LICA-FR 16 2499787 2499787 insertion of <=200bp - TCCCCTCCA intron_variant LICA-FR 16 2512460 2512460 single base substitution G A downstream_gene_variant LIHC-US 16 2487180 2487180 single base substitution C T 3_prime_UTR_variant LIHC-US 16 2487180 2487180 single base substitution C T downstream_gene_variant LIHC-US 16 2487180 2487180 single base substitution C T exon_variant LIHC-US 16 2487180 2487180 single base substitution C T missense_variant R133C 397C>T LIHC-US 16 2499281 2499281 single base substitution A T exon_variant LIHC-US 16 2499281 2499281 single base substitution A T splice_acceptor_variant LIHC-US 16 2499459 2499459 single base substitution G T 3_prime_UTR_variant LIHC-US 16 2499459 2499459 single base substitution G T synonymous_variant G465G 1395G>T LINC-JP 16 2477183 2477183 single base substitution C A upstream_gene_variant LINC-JP 16 2489885 2489885 single base substitution G C downstream_gene_variant LINC-JP 16 2489885 2489885 single base substitution G C intron_variant LINC-JP 16 2489885 2489885 single base substitution G C upstream_gene_variant LINC-JP 16 2491434 2491434 single base substitution T G downstream_gene_variant LINC-JP 16 2491434 2491434 single base substitution T G intron_variant LINC-JP 16 2491434 2491434 single base substitution T G upstream_gene_variant LINC-JP 16 2510880 2510880 single base substitution C G downstream_gene_variant LIRI-JP 16 2478475 2478475 single base substitution G T upstream_gene_variant LIRI-JP 16 2480560 2480560 single base substitution A G intron_variant LIRI-JP 16 2484656 2484656 single base substitution T A intron_variant LIRI-JP 16 2484656 2484656 single base substitution T A upstream_gene_variant LIRI-JP 16 2487929 2487929 single base substitution A G downstream_gene_variant LIRI-JP 16 2487929 2487929 single base substitution A G intron_variant LIRI-JP 16 2488953 2488953 single base substitution C T downstream_gene_variant LIRI-JP 16 2488953 2488953 single base substitution C T intron_variant LIRI-JP 16 2488953 2488953 single base substitution C T upstream_gene_variant LIRI-JP 16 2490711 2490711 single base substitution T G downstream_gene_variant LIRI-JP 16 2490711 2490711 single base substitution T G intron_variant LIRI-JP 16 2490711 2490711 single base substitution T G upstream_gene_variant LIRI-JP 16 2490731 2490731 single base substitution G C downstream_gene_variant LIRI-JP 16 2490731 2490731 single base substitution G C intron_variant LIRI-JP 16 2490731 2490731 single base substitution G C upstream_gene_variant LIRI-JP 16 2494593 2494593 single base substitution G A intron_variant LIRI-JP 16 2495160 2495160 deletion of <=200bp G - intron_variant LIRI-JP 16 2498241 2498241 single base substitution G A intron_variant LIRI-JP 16 2508376 2508376 single base substitution C A 3_prime_UTR_variant LIRI-JP 16 2513791 2513791 single base substitution G C downstream_gene_variant LUSC-KR 16 2475622 2475622 single base substitution A T upstream_gene_variant LUSC-KR 16 2476261 2476261 single base substitution C A upstream_gene_variant LUSC-KR 16 2482746 2482746 single base substitution C G intron_variant LUSC-KR 16 2482746 2482746 single base substitution C G upstream_gene_variant LUSC-KR 16 2482891 2482891 single base substitution C G intron_variant LUSC-KR 16 2482891 2482891 single base substitution C G upstream_gene_variant LUSC-KR 16 2483280 2483280 single base substitution C A intron_variant LUSC-KR 16 2483280 2483280 single base substitution C A upstream_gene_variant LUSC-KR 16 2483623 2483623 single base substitution C T intron_variant LUSC-KR 16 2483623 2483623 single base substitution C T upstream_gene_variant LUSC-KR 16 2483661 2483661 single base substitution C A intron_variant LUSC-KR 16 2483661 2483661 single base substitution C A upstream_gene_variant LUSC-KR 16 2483694 2483694 single base substitution C G intron_variant LUSC-KR 16 2483694 2483694 single base substitution C G upstream_gene_variant LUSC-KR 16 2485404 2485404 single base substitution C A intron_variant LUSC-KR 16 2485404 2485404 single base substitution C A upstream_gene_variant LUSC-KR 16 2501296 2501296 single base substitution G C downstream_gene_variant LUSC-KR 16 2501296 2501296 single base substitution G C intron_variant LUSC-KR 16 2503275 2503275 single base substitution G C 3_prime_UTR_variant LUSC-KR 16 2503275 2503275 single base substitution G C downstream_gene_variant LUSC-KR 16 2503275 2503275 single base substitution G C missense_variant E518Q 1552G>C LUSC-KR 16 2510191 2510191 single base substitution A G downstream_gene_variant LUSC-KR 16 2512811 2512811 single base substitution G T downstream_gene_variant LUSC-US 16 2503520 2503520 single base substitution C T 3_prime_UTR_variant LUSC-US 16 2503520 2503520 single base substitution C T downstream_gene_variant LUSC-US 16 2503520 2503520 single base substitution C T missense_variant S566L 1697C>T LUSC-US 16 2505515 2505515 single base substitution G T 3_prime_UTR_variant LUSC-US 16 2505515 2505515 single base substitution G T missense_variant C612F 1835G>T MALY-DE 16 2478001 2478001 single base substitution C A upstream_gene_variant MALY-DE 16 2489292 2489292 single base substitution T C downstream_gene_variant MALY-DE 16 2489292 2489292 single base substitution T C intron_variant MALY-DE 16 2489292 2489292 single base substitution T C upstream_gene_variant MALY-DE 16 2491181 2491181 single base substitution G A downstream_gene_variant MALY-DE 16 2491181 2491181 single base substitution G A intron_variant MALY-DE 16 2491181 2491181 single base substitution G A upstream_gene_variant MALY-DE 16 2491668 2491668 single base substitution C T downstream_gene_variant MALY-DE 16 2491668 2491668 single base substitution C T intron_variant MALY-DE 16 2491668 2491668 single base substitution C T upstream_gene_variant MALY-DE 16 2495802 2495802 single base substitution C T intron_variant MALY-DE 16 2498032 2498032 single base substitution G A intron_variant MALY-DE 16 2500226 2500226 single base substitution C G downstream_gene_variant MALY-DE 16 2500226 2500226 single base substitution C G intron_variant MELA-AU 16 2474507 2474508 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2474574 2474574 single base substitution C T upstream_gene_variant MELA-AU 16 2474843 2474843 single base substitution G A upstream_gene_variant MELA-AU 16 2475027 2475027 single base substitution G A upstream_gene_variant MELA-AU 16 2475034 2475034 single base substitution G A upstream_gene_variant MELA-AU 16 2475553 2475553 single base substitution C T upstream_gene_variant MELA-AU 16 2475922 2475922 single base substitution C T upstream_gene_variant MELA-AU 16 2475971 2475971 single base substitution G A upstream_gene_variant MELA-AU 16 2475999 2475999 single base substitution G A upstream_gene_variant MELA-AU 16 2476006 2476006 single base substitution G A upstream_gene_variant MELA-AU 16 2476791 2476791 single base substitution C T upstream_gene_variant MELA-AU 16 2477373 2477373 single base substitution C T upstream_gene_variant MELA-AU 16 2477630 2477630 single base substitution G C upstream_gene_variant MELA-AU 16 2477680 2477680 single base substitution G A upstream_gene_variant MELA-AU 16 2477697 2477697 single base substitution G A upstream_gene_variant MELA-AU 16 2478352 2478352 single base substitution C T upstream_gene_variant MELA-AU 16 2479122 2479123 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2479153 2479153 single base substitution G A upstream_gene_variant MELA-AU 16 2479171 2479171 single base substitution G A upstream_gene_variant MELA-AU 16 2479180 2479180 single base substitution G A upstream_gene_variant MELA-AU 16 2479218 2479218 single base substitution G A upstream_gene_variant MELA-AU 16 2479573 2479573 single base substitution C T intron_variant MELA-AU 16 2481420 2481420 single base substitution C T intron_variant MELA-AU 16 2481420 2481420 single base substitution C T upstream_gene_variant MELA-AU 16 2481426 2481426 single base substitution C T intron_variant MELA-AU 16 2481426 2481426 single base substitution C T upstream_gene_variant MELA-AU 16 2481807 2481807 single base substitution T A intron_variant MELA-AU 16 2481807 2481807 single base substitution T A upstream_gene_variant MELA-AU 16 2482167 2482167 single base substitution T C intron_variant MELA-AU 16 2482167 2482167 single base substitution T C upstream_gene_variant MELA-AU 16 2482562 2482562 single base substitution C T intron_variant MELA-AU 16 2482562 2482562 single base substitution C T upstream_gene_variant MELA-AU 16 2482723 2482723 single base substitution C T intron_variant MELA-AU 16 2482723 2482723 single base substitution C T upstream_gene_variant MELA-AU 16 2482732 2482732 single base substitution C A intron_variant MELA-AU 16 2482732 2482732 single base substitution C A upstream_gene_variant MELA-AU 16 2483302 2483302 single base substitution C T intron_variant MELA-AU 16 2483302 2483302 single base substitution C T upstream_gene_variant MELA-AU 16 2483389 2483389 single base substitution C T intron_variant MELA-AU 16 2483389 2483389 single base substitution C T upstream_gene_variant MELA-AU 16 2483597 2483597 single base substitution T G intron_variant MELA-AU 16 2483597 2483597 single base substitution T G upstream_gene_variant MELA-AU 16 2483604 2483604 single base substitution C T intron_variant MELA-AU 16 2483604 2483604 single base substitution C T upstream_gene_variant MELA-AU 16 2483613 2483613 single base substitution G A intron_variant MELA-AU 16 2483613 2483613 single base substitution G A upstream_gene_variant MELA-AU 16 2484076 2484077 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 16 2484076 2484077 multiple base substitution (>=2bp and <=200bp) GC TT upstream_gene_variant MELA-AU 16 2484098 2484098 single base substitution G A intron_variant MELA-AU 16 2484098 2484098 single base substitution G A upstream_gene_variant MELA-AU 16 2485244 2485244 single base substitution C T intron_variant MELA-AU 16 2485244 2485244 single base substitution C T upstream_gene_variant MELA-AU 16 2485948 2485948 single base substitution C T exon_variant MELA-AU 16 2485948 2485948 single base substitution C T intron_variant MELA-AU 16 2485948 2485948 single base substitution C T upstream_gene_variant MELA-AU 16 2486447 2486447 single base substitution C T downstream_gene_variant MELA-AU 16 2486447 2486447 single base substitution C T exon_variant MELA-AU 16 2486447 2486447 single base substitution C T intron_variant MELA-AU 16 2486532 2486532 single base substitution C T downstream_gene_variant MELA-AU 16 2486532 2486532 single base substitution C T exon_variant MELA-AU 16 2486532 2486532 single base substitution C T intron_variant MELA-AU 16 2486887 2486887 single base substitution C T downstream_gene_variant MELA-AU 16 2486887 2486887 single base substitution C T exon_variant MELA-AU 16 2486887 2486887 single base substitution C T intron_variant MELA-AU 16 2487731 2487731 single base substitution C T downstream_gene_variant MELA-AU 16 2487731 2487731 single base substitution C T exon_variant MELA-AU 16 2487731 2487731 single base substitution C T intron_variant MELA-AU 16 2487991 2487991 single base substitution C T downstream_gene_variant MELA-AU 16 2487991 2487991 single base substitution C T intron_variant MELA-AU 16 2488058 2488058 single base substitution C T downstream_gene_variant MELA-AU 16 2488058 2488058 single base substitution C T intron_variant MELA-AU 16 2488384 2488384 single base substitution G A downstream_gene_variant MELA-AU 16 2488384 2488384 single base substitution G A intron_variant MELA-AU 16 2488464 2488464 single base substitution A C downstream_gene_variant MELA-AU 16 2488464 2488464 single base substitution A C intron_variant MELA-AU 16 2488511 2488511 single base substitution G A downstream_gene_variant MELA-AU 16 2488511 2488511 single base substitution G A intron_variant MELA-AU 16 2488737 2488737 single base substitution C T downstream_gene_variant MELA-AU 16 2488737 2488737 single base substitution C T intron_variant MELA-AU 16 2488737 2488737 single base substitution C T upstream_gene_variant MELA-AU 16 2489353 2489353 single base substitution G A downstream_gene_variant MELA-AU 16 2489353 2489353 single base substitution G A splice_acceptor_variant MELA-AU 16 2489353 2489353 single base substitution G A upstream_gene_variant MELA-AU 16 2489490 2489490 single base substitution T C downstream_gene_variant MELA-AU 16 2489490 2489490 single base substitution T C intron_variant MELA-AU 16 2489490 2489490 single base substitution T C upstream_gene_variant MELA-AU 16 2489914 2489914 single base substitution G A downstream_gene_variant MELA-AU 16 2489914 2489914 single base substitution G A intron_variant MELA-AU 16 2489914 2489914 single base substitution G A upstream_gene_variant MELA-AU 16 2490079 2490079 single base substitution T C downstream_gene_variant MELA-AU 16 2490079 2490079 single base substitution T C intron_variant MELA-AU 16 2490079 2490079 single base substitution T C upstream_gene_variant MELA-AU 16 2490624 2490624 single base substitution C T downstream_gene_variant MELA-AU 16 2490624 2490624 single base substitution C T intron_variant MELA-AU 16 2490624 2490624 single base substitution C T upstream_gene_variant MELA-AU 16 2490754 2490754 single base substitution C T downstream_gene_variant MELA-AU 16 2490754 2490754 single base substitution C T intron_variant MELA-AU 16 2490754 2490754 single base substitution C T upstream_gene_variant MELA-AU 16 2491060 2491060 single base substitution C T downstream_gene_variant MELA-AU 16 2491060 2491060 single base substitution C T intron_variant MELA-AU 16 2491060 2491060 single base substitution C T upstream_gene_variant MELA-AU 16 2491488 2491489 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 2491488 2491489 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 2491488 2491489 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 2491560 2491560 single base substitution G A downstream_gene_variant MELA-AU 16 2491560 2491560 single base substitution G A intron_variant MELA-AU 16 2491560 2491560 single base substitution G A upstream_gene_variant MELA-AU 16 2491982 2491982 single base substitution A G downstream_gene_variant MELA-AU 16 2491982 2491982 single base substitution A G intron_variant MELA-AU 16 2491982 2491982 single base substitution A G upstream_gene_variant MELA-AU 16 2493296 2493296 single base substitution C T intron_variant MELA-AU 16 2493296 2493296 single base substitution C T upstream_gene_variant MELA-AU 16 2493386 2493386 single base substitution C T intron_variant MELA-AU 16 2493386 2493386 single base substitution C T upstream_gene_variant MELA-AU 16 2493451 2493451 single base substitution C T intron_variant MELA-AU 16 2493451 2493451 single base substitution C T upstream_gene_variant MELA-AU 16 2493853 2493853 single base substitution C T intron_variant MELA-AU 16 2494259 2494259 single base substitution G A intron_variant MELA-AU 16 2495082 2495082 single base substitution C T intron_variant MELA-AU 16 2495612 2495612 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2495612 2495612 single base substitution C T exon_variant MELA-AU 16 2495612 2495612 single base substitution C T synonymous_variant V361V 1083C>T MELA-AU 16 2495752 2495752 single base substitution C T intron_variant MELA-AU 16 2495819 2495819 single base substitution C T intron_variant MELA-AU 16 2496377 2496377 single base substitution C T intron_variant MELA-AU 16 2496559 2496559 single base substitution C T intron_variant MELA-AU 16 2496886 2496886 single base substitution C T intron_variant MELA-AU 16 2497604 2497604 single base substitution T A intron_variant MELA-AU 16 2497606 2497606 single base substitution G C intron_variant MELA-AU 16 2498762 2498762 single base substitution C T intron_variant MELA-AU 16 2499055 2499055 single base substitution C T intron_variant MELA-AU 16 2499100 2499100 single base substitution C T intron_variant MELA-AU 16 2499170 2499170 single base substitution T G exon_variant MELA-AU 16 2499170 2499170 single base substitution T G intron_variant MELA-AU 16 2499307 2499307 single base substitution G A 3_prime_UTR_variant MELA-AU 16 2499307 2499307 single base substitution G A missense_variant E415K 1243G>A MELA-AU 16 2499418 2499418 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2499418 2499418 single base substitution C T synonymous_variant L452L 1354C>T MELA-AU 16 2499771 2499771 single base substitution C A intron_variant MELA-AU 16 2499787 2499787 insertion of <=200bp - TCCCCTCCA intron_variant MELA-AU 16 2499987 2499987 single base substitution C T downstream_gene_variant MELA-AU 16 2499987 2499987 single base substitution C T intron_variant MELA-AU 16 2500641 2500641 single base substitution C T downstream_gene_variant MELA-AU 16 2500641 2500641 single base substitution C T intron_variant MELA-AU 16 2501141 2501141 single base substitution C T downstream_gene_variant MELA-AU 16 2501141 2501141 single base substitution C T intron_variant MELA-AU 16 2501575 2501575 single base substitution C T downstream_gene_variant MELA-AU 16 2501575 2501575 single base substitution C T intron_variant MELA-AU 16 2502576 2502576 single base substitution T C downstream_gene_variant MELA-AU 16 2502576 2502576 single base substitution T C intron_variant MELA-AU 16 2502720 2502720 single base substitution G A downstream_gene_variant MELA-AU 16 2502720 2502720 single base substitution G A intron_variant MELA-AU 16 2503317 2503318 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 16 2503317 2503318 multiple base substitution (>=2bp and <=200bp) CC AT splice_region_variant MELA-AU 16 2503613 2503613 single base substitution C T downstream_gene_variant MELA-AU 16 2503613 2503613 single base substitution C T intron_variant MELA-AU 16 2503718 2503718 single base substitution C T downstream_gene_variant MELA-AU 16 2503718 2503718 single base substitution C T intron_variant MELA-AU 16 2503960 2503960 single base substitution C G downstream_gene_variant MELA-AU 16 2503960 2503960 single base substitution C G intron_variant MELA-AU 16 2504075 2504075 single base substitution C T downstream_gene_variant MELA-AU 16 2504075 2504075 single base substitution C T intron_variant MELA-AU 16 2504195 2504195 single base substitution C T downstream_gene_variant MELA-AU 16 2504195 2504195 single base substitution C T intron_variant MELA-AU 16 2504540 2504540 single base substitution G A downstream_gene_variant MELA-AU 16 2504540 2504540 single base substitution G A intron_variant MELA-AU 16 2504806 2504806 single base substitution A G downstream_gene_variant MELA-AU 16 2504806 2504806 single base substitution A G intron_variant MELA-AU 16 2505705 2505705 single base substitution C T intron_variant MELA-AU 16 2505706 2505706 single base substitution C T intron_variant MELA-AU 16 2505826 2505826 single base substitution C T intron_variant MELA-AU 16 2506041 2506041 single base substitution G A intron_variant MELA-AU 16 2506686 2506686 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2506686 2506686 single base substitution C T stop_gained Q676* 2026C>T MELA-AU 16 2507227 2507227 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2507305 2507305 single base substitution T A 3_prime_UTR_variant MELA-AU 16 2508184 2508184 single base substitution G A 3_prime_UTR_variant MELA-AU 16 2508269 2508269 single base substitution T G 3_prime_UTR_variant MELA-AU 16 2508684 2508684 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2508946 2508946 single base substitution C A downstream_gene_variant MELA-AU 16 2510064 2510064 single base substitution G A downstream_gene_variant MELA-AU 16 2510067 2510067 single base substitution C T downstream_gene_variant MELA-AU 16 2510068 2510068 single base substitution G A downstream_gene_variant MELA-AU 16 2510073 2510073 single base substitution G A downstream_gene_variant MELA-AU 16 2510073 2510073 single base substitution G T downstream_gene_variant MELA-AU 16 2510073 2510074 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 2510074 2510074 single base substitution G A downstream_gene_variant MELA-AU 16 2510086 2510086 single base substitution C T downstream_gene_variant MELA-AU 16 2510092 2510092 single base substitution G A downstream_gene_variant MELA-AU 16 2510095 2510095 single base substitution G A downstream_gene_variant MELA-AU 16 2510095 2510096 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 2510095 2510096 multiple base substitution (>=2bp and <=200bp) GG AG downstream_gene_variant MELA-AU 16 2510096 2510096 single base substitution G A downstream_gene_variant MELA-AU 16 2510096 2510097 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 2510106 2510106 single base substitution C T downstream_gene_variant MELA-AU 16 2511798 2511798 single base substitution C T downstream_gene_variant MELA-AU 16 2512110 2512110 single base substitution C T downstream_gene_variant MELA-AU 16 2512234 2512234 single base substitution G A downstream_gene_variant MELA-AU 16 2512245 2512245 single base substitution C T downstream_gene_variant MELA-AU 16 2512751 2512751 single base substitution C T downstream_gene_variant MELA-AU 16 2513131 2513131 single base substitution G A downstream_gene_variant MELA-AU 16 2513425 2513425 single base substitution C T downstream_gene_variant MELA-AU 16 2513566 2513566 single base substitution T C downstream_gene_variant ORCA-IN 16 2487249 2487249 single base substitution C T 3_prime_UTR_variant ORCA-IN 16 2487249 2487249 single base substitution C T downstream_gene_variant ORCA-IN 16 2487249 2487249 single base substitution C T exon_variant ORCA-IN 16 2487249 2487249 single base substitution C T missense_variant P156S 466C>T ORCA-IN 16 2499894 2499894 single base substitution G A 3_prime_UTR_variant ORCA-IN 16 2499894 2499894 single base substitution G A downstream_gene_variant ORCA-IN 16 2499894 2499894 single base substitution G A missense_variant V489I 1465G>A ORCA-IN 16 2512667 2512667 single base substitution C A downstream_gene_variant OV-AU 16 2477284 2477284 single base substitution C G upstream_gene_variant OV-AU 16 2478427 2478427 single base substitution C A upstream_gene_variant OV-AU 16 2479195 2479195 single base substitution C G upstream_gene_variant OV-AU 16 2490993 2490993 single base substitution G C downstream_gene_variant OV-AU 16 2490993 2490993 single base substitution G C intron_variant OV-AU 16 2490993 2490993 single base substitution G C upstream_gene_variant OV-AU 16 2495825 2495825 single base substitution T G intron_variant OV-AU 16 2502487 2502487 single base substitution G T downstream_gene_variant OV-AU 16 2502487 2502487 single base substitution G T intron_variant OV-AU 16 2502502 2502502 single base substitution C G downstream_gene_variant OV-AU 16 2502502 2502502 single base substitution C G intron_variant OV-AU 16 2505619 2505619 single base substitution C T intron_variant OV-AU 16 2510051 2510051 single base substitution G A downstream_gene_variant OV-AU 16 2510258 2510258 single base substitution T G downstream_gene_variant OV-AU 16 2512551 2512551 single base substitution C A downstream_gene_variant PACA-AU 16 2478743 2478743 single base substitution C G upstream_gene_variant PACA-AU 16 2482082 2482082 single base substitution C T intron_variant PACA-AU 16 2482082 2482082 single base substitution C T upstream_gene_variant PACA-AU 16 2482835 2482842 deletion of <=200bp CTCAACTA - intron_variant PACA-AU 16 2482835 2482842 deletion of <=200bp CTCAACTA - upstream_gene_variant PACA-AU 16 2486180 2486180 single base substitution C T exon_variant PACA-AU 16 2486180 2486180 single base substitution C T intron_variant PACA-AU 16 2486701 2486701 deletion of <=200bp T - downstream_gene_variant PACA-AU 16 2486701 2486701 deletion of <=200bp T - exon_variant PACA-AU 16 2486701 2486701 deletion of <=200bp T - intron_variant PACA-AU 16 2488337 2488337 single base substitution G T downstream_gene_variant PACA-AU 16 2488337 2488337 single base substitution G T intron_variant PACA-AU 16 2489507 2489507 single base substitution G A downstream_gene_variant PACA-AU 16 2489507 2489507 single base substitution G A intron_variant PACA-AU 16 2489507 2489507 single base substitution G A upstream_gene_variant PACA-AU 16 2490478 2490478 single base substitution C T downstream_gene_variant PACA-AU 16 2490478 2490478 single base substitution C T intron_variant PACA-AU 16 2490478 2490478 single base substitution C T upstream_gene_variant PACA-AU 16 2492175 2492175 single base substitution A T downstream_gene_variant PACA-AU 16 2492175 2492175 single base substitution A T intron_variant PACA-AU 16 2492175 2492175 single base substitution A T upstream_gene_variant PACA-AU 16 2496967 2496967 single base substitution G A intron_variant PACA-AU 16 2499787 2499787 insertion of <=200bp - TCCCCTCCA intron_variant PACA-AU 16 2501924 2501924 deletion of <=200bp C - downstream_gene_variant PACA-AU 16 2501924 2501924 deletion of <=200bp C - intron_variant PACA-AU 16 2504138 2504138 single base substitution G A downstream_gene_variant PACA-AU 16 2504138 2504138 single base substitution G A intron_variant PACA-AU 16 2505436 2505436 single base substitution G A 3_prime_UTR_variant PACA-AU 16 2505436 2505436 single base substitution G A missense_variant V586I 1756G>A PACA-AU 16 2508358 2508358 single base substitution T C 3_prime_UTR_variant PACA-AU 16 2509698 2509698 single base substitution C G downstream_gene_variant PACA-AU 16 2510912 2510912 single base substitution G A downstream_gene_variant PACA-AU 16 2513820 2513820 single base substitution C G downstream_gene_variant PACA-CA 16 2478927 2478927 single base substitution G A upstream_gene_variant PACA-CA 16 2480064 2480064 single base substitution G C intron_variant PACA-CA 16 2482287 2482287 single base substitution A G intron_variant PACA-CA 16 2482287 2482287 single base substitution A G upstream_gene_variant PACA-CA 16 2486291 2486291 single base substitution G A exon_variant PACA-CA 16 2486291 2486291 single base substitution G A intron_variant PACA-CA 16 2486425 2486425 single base substitution A T downstream_gene_variant PACA-CA 16 2486425 2486425 single base substitution A T exon_variant PACA-CA 16 2486425 2486425 single base substitution A T intron_variant PACA-CA 16 2486505 2486505 single base substitution G A downstream_gene_variant PACA-CA 16 2486505 2486505 single base substitution G A exon_variant PACA-CA 16 2486505 2486505 single base substitution G A intron_variant PACA-CA 16 2494098 2494098 single base substitution T A intron_variant PACA-CA 16 2497525 2497525 single base substitution C T intron_variant PACA-CA 16 2498674 2498674 single base substitution T C intron_variant PACA-CA 16 2500436 2500436 single base substitution C T downstream_gene_variant PACA-CA 16 2500436 2500436 single base substitution C T intron_variant PACA-CA 16 2500669 2500669 single base substitution T G downstream_gene_variant PACA-CA 16 2500669 2500669 single base substitution T G intron_variant PACA-CA 16 2506892 2506892 single base substitution G C 3_prime_UTR_variant PACA-CA 16 2506892 2506892 single base substitution G C missense_variant R744S 2232G>C PACA-CA 16 2511151 2511151 single base substitution G A downstream_gene_variant PAEN-AU 16 2494276 2494276 single base substitution A T intron_variant PAEN-AU 16 2499787 2499787 insertion of <=200bp - TCCCCTCCA intron_variant PAEN-IT 16 2478152 2478152 single base substitution C T upstream_gene_variant PBCA-DE 16 2475097 2475098 deletion of <=200bp TC - upstream_gene_variant PBCA-DE 16 2484763 2484763 deletion of <=200bp T - intron_variant PBCA-DE 16 2484763 2484763 deletion of <=200bp T - upstream_gene_variant PBCA-DE 16 2491141 2491141 single base substitution A T downstream_gene_variant PBCA-DE 16 2491141 2491141 single base substitution A T intron_variant PBCA-DE 16 2491141 2491141 single base substitution A T upstream_gene_variant PBCA-DE 16 2499768 2499768 single base substitution G A intron_variant PBCA-DE 16 2499777 2499777 single base substitution A G intron_variant PBCA-DE 16 2499786 2499786 single base substitution G A intron_variant PBCA-DE 16 2499805 2499805 insertion of <=200bp - T intron_variant PBCA-DE 16 2499857 2499857 single base substitution C T 3_prime_UTR_variant PBCA-DE 16 2499857 2499857 single base substitution C T synonymous_variant D476D 1428C>T PBCA-DE 16 2500381 2500381 single base substitution A G downstream_gene_variant PBCA-DE 16 2500381 2500381 single base substitution A G intron_variant PBCA-DE 16 2501672 2501672 single base substitution C T downstream_gene_variant PBCA-DE 16 2501672 2501672 single base substitution C T intron_variant PBCA-DE 16 2503054 2503054 single base substitution G A downstream_gene_variant PBCA-DE 16 2503054 2503054 single base substitution G A intron_variant PBCA-DE 16 2504735 2504735 single base substitution G A downstream_gene_variant PBCA-DE 16 2504735 2504735 single base substitution G A intron_variant PBCA-DE 16 2512588 2512588 single base substitution C T downstream_gene_variant PRAD-CA 16 2476207 2476207 single base substitution G A upstream_gene_variant PRAD-CA 16 2493162 2493162 single base substitution A G intron_variant PRAD-CA 16 2493162 2493162 single base substitution A G upstream_gene_variant PRAD-CA 16 2501850 2501850 single base substitution C T downstream_gene_variant PRAD-CA 16 2501850 2501850 single base substitution C T intron_variant PRAD-CA 16 2505441 2505441 single base substitution C G 3_prime_UTR_variant PRAD-CA 16 2505441 2505441 single base substitution C G synonymous_variant T587T 1761C>G PRAD-UK 16 2480193 2480193 single base substitution G C intron_variant PRAD-UK 16 2499039 2499039 single base substitution G A intron_variant PRAD-US 16 2506607 2506607 single base substitution C T 3_prime_UTR_variant PRAD-US 16 2506607 2506607 single base substitution C T synonymous_variant C649C 1947C>T PRAD-US 16 2506639 2506639 single base substitution C T 3_prime_UTR_variant PRAD-US 16 2506639 2506639 single base substitution C T missense_variant P660L 1979C>T RECA-EU 16 2474631 2474631 single base substitution A T upstream_gene_variant RECA-EU 16 2481808 2481808 single base substitution G T intron_variant RECA-EU 16 2481808 2481808 single base substitution G T upstream_gene_variant RECA-EU 16 2489443 2489443 single base substitution C T 3_prime_UTR_variant RECA-EU 16 2489443 2489443 single base substitution C T downstream_gene_variant RECA-EU 16 2489443 2489443 single base substitution C T synonymous_variant S228S 684C>T RECA-EU 16 2489443 2489443 single base substitution C T upstream_gene_variant RECA-EU 16 2504176 2504176 single base substitution G A downstream_gene_variant RECA-EU 16 2504176 2504176 single base substitution G A intron_variant RECA-EU 16 2506988 2506988 single base substitution G C 3_prime_UTR_variant RECA-EU 16 2506988 2506988 single base substitution G C missense_variant E776D 2328G>C SKCA-BR 16 2474543 2474543 single base substitution C T upstream_gene_variant SKCA-BR 16 2474561 2474561 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 16 2479120 2479120 single base substitution A C upstream_gene_variant SKCA-BR 16 2479708 2479708 single base substitution T C intron_variant SKCA-BR 16 2479773 2479800 deletion of <=200bp AGCGATCCGGCGATCGGGTCCCGGGGCG - intron_variant SKCA-BR 16 2481837 2481837 insertion of <=200bp - CT intron_variant SKCA-BR 16 2481837 2481837 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 16 2485620 2485638 deletion of <=200bp ACACACACACATATATATG - intron_variant SKCA-BR 16 2485620 2485638 deletion of <=200bp ACACACACACATATATATG - upstream_gene_variant SKCA-BR 16 2485681 2485681 insertion of <=200bp - TGCACACACAC intron_variant SKCA-BR 16 2485681 2485681 insertion of <=200bp - TGCACACACAC upstream_gene_variant SKCA-BR 16 2486383 2486383 single base substitution C T downstream_gene_variant SKCA-BR 16 2486383 2486383 single base substitution C T exon_variant SKCA-BR 16 2486383 2486383 single base substitution C T intron_variant SKCA-BR 16 2494901 2494902 deletion of <=200bp CT - intron_variant SKCA-BR 16 2496840 2496840 single base substitution A C intron_variant SKCA-BR 16 2496975 2496975 single base substitution A C intron_variant SKCA-BR 16 2497507 2497507 single base substitution C T intron_variant SKCA-BR 16 2497508 2497508 single base substitution C T intron_variant SKCA-BR 16 2499502 2499502 single base substitution A G intron_variant SKCA-BR 16 2499888 2499888 single base substitution C T 3_prime_UTR_variant SKCA-BR 16 2499888 2499888 single base substitution C T downstream_gene_variant SKCA-BR 16 2499888 2499888 single base substitution C T missense_variant P487S 1459C>T SKCA-BR 16 2506078 2506078 single base substitution C T intron_variant SKCA-BR 16 2507368 2507368 single base substitution G C 3_prime_UTR_variant SKCA-BR 16 2509409 2509409 insertion of <=200bp - GC downstream_gene_variant SKCA-BR 16 2509474 2509474 single base substitution C T downstream_gene_variant SKCA-BR 16 2510073 2510073 single base substitution G A downstream_gene_variant SKCA-BR 16 2510095 2510095 single base substitution G A downstream_gene_variant SKCA-BR 16 2510096 2510096 single base substitution G A downstream_gene_variant SKCA-BR 16 2510197 2510197 single base substitution T G downstream_gene_variant SKCA-BR 16 2511583 2511583 single base substitution C T downstream_gene_variant SKCA-BR 16 2512130 2512130 single base substitution A C downstream_gene_variant SKCM-US 16 2474681 2474681 single base substitution G A upstream_gene_variant SKCM-US 16 2474682 2474682 single base substitution G A upstream_gene_variant SKCM-US 16 2474740 2474740 single base substitution C T upstream_gene_variant SKCM-US 16 2483003 2483003 single base substitution T G exon_variant SKCM-US 16 2483003 2483003 single base substitution T G intron_variant SKCM-US 16 2483003 2483003 single base substitution T G missense_variant S71R 213T>G SKCM-US 16 2483003 2483003 single base substitution T G upstream_gene_variant SKCM-US 16 2485844 2485844 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2485844 2485844 single base substitution C T exon_variant SKCM-US 16 2485844 2485844 single base substitution C T synonymous_variant L106L 316C>T SKCM-US 16 2485844 2485844 single base substitution C T upstream_gene_variant SKCM-US 16 2488085 2488085 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2488085 2488085 single base substitution C T downstream_gene_variant SKCM-US 16 2488085 2488085 single base substitution C T synonymous_variant S185S 555C>T SKCM-US 16 2489771 2489771 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2489771 2489771 single base substitution C T downstream_gene_variant SKCM-US 16 2489771 2489771 single base substitution C T missense_variant L241F 721C>T SKCM-US 16 2489771 2489771 single base substitution C T upstream_gene_variant SKCM-US 16 2493679 2493679 insertion of <=200bp - AAC 3_prime_UTR_variant SKCM-US 16 2493679 2493679 insertion of <=200bp - AAC inframe_insertion A269AT SKCM-US 16 2493679 2493679 insertion of <=200bp - AAC upstream_gene_variant SKCM-US 16 2493718 2493718 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2493718 2493718 single base substitution C T exon_variant SKCM-US 16 2493718 2493718 single base substitution C T synonymous_variant I282I 846C>T SKCM-US 16 2495514 2495514 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2495514 2495514 single base substitution C T exon_variant SKCM-US 16 2495514 2495514 single base substitution C T synonymous_variant L329L 985C>T SKCM-US 16 2498891 2498891 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2498891 2498891 single base substitution C T exon_variant SKCM-US 16 2498891 2498891 single base substitution C T missense_variant A377V 1130C>T SKCM-US 16 2499286 2499286 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2499286 2499286 single base substitution C T missense_variant P408S 1222C>T SKCM-US 16 2503215 2503215 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2503215 2503215 single base substitution C T downstream_gene_variant SKCM-US 16 2503215 2503215 single base substitution C T missense_variant H498Y 1492C>T SKCM-US 16 2511004 2511004 single base substitution A G downstream_gene_variant SKCM-US 16 2511789 2511789 single base substitution C T downstream_gene_variant SKCM-US 16 2512222 2512222 single base substitution C T downstream_gene_variant SKCM-US 16 2512234 2512234 single base substitution G A downstream_gene_variant SKCM-US 16 2512522 2512522 single base substitution C T downstream_gene_variant STAD-US 16 2481176 2481176 single base substitution G A exon_variant STAD-US 16 2481176 2481176 single base substitution G A missense_variant R21Q 62G>A STAD-US 16 2481176 2481176 single base substitution G A upstream_gene_variant STAD-US 16 2481197 2481197 single base substitution G A exon_variant STAD-US 16 2481197 2481197 single base substitution G A missense_variant R28Q 83G>A STAD-US 16 2481197 2481197 single base substitution G A upstream_gene_variant STAD-US 16 2482985 2482985 single base substitution G C exon_variant STAD-US 16 2482985 2482985 single base substitution G C intron_variant STAD-US 16 2482985 2482985 single base substitution G C synonymous_variant L65L 195G>C STAD-US 16 2482985 2482985 single base substitution G C upstream_gene_variant STAD-US 16 2487152 2487152 single base substitution C T 3_prime_UTR_variant STAD-US 16 2487152 2487152 single base substitution C T downstream_gene_variant STAD-US 16 2487152 2487152 single base substitution C T exon_variant STAD-US 16 2487152 2487152 single base substitution C T synonymous_variant R123R 369C>T STAD-US 16 2487153 2487153 single base substitution G A 3_prime_UTR_variant STAD-US 16 2487153 2487153 single base substitution G A downstream_gene_variant STAD-US 16 2487153 2487153 single base substitution G A exon_variant STAD-US 16 2487153 2487153 single base substitution G A missense_variant A124T 370G>A STAD-US 16 2489443 2489443 single base substitution C T 3_prime_UTR_variant STAD-US 16 2489443 2489443 single base substitution C T downstream_gene_variant STAD-US 16 2489443 2489443 single base substitution C T synonymous_variant S228S 684C>T STAD-US 16 2489443 2489443 single base substitution C T upstream_gene_variant STAD-US 16 2489817 2489817 single base substitution G T 3_prime_UTR_variant STAD-US 16 2489817 2489817 single base substitution G T downstream_gene_variant STAD-US 16 2489817 2489817 single base substitution G T missense_variant W256L 767G>T STAD-US 16 2489817 2489817 single base substitution G T upstream_gene_variant STAD-US 16 2495531 2495531 single base substitution C T 3_prime_UTR_variant STAD-US 16 2495531 2495531 single base substitution C T exon_variant STAD-US 16 2495531 2495531 single base substitution C T synonymous_variant T334T 1002C>T STAD-US 16 2499405 2499405 single base substitution C T 3_prime_UTR_variant STAD-US 16 2499405 2499405 single base substitution C T synonymous_variant Y447Y 1341C>T STAD-US 16 2503465 2503465 single base substitution G A 3_prime_UTR_variant STAD-US 16 2503465 2503465 single base substitution G A downstream_gene_variant STAD-US 16 2503465 2503465 single base substitution G A missense_variant D548N 1642G>A STAD-US 16 2503467 2503467 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 16 2503467 2503467 deletion of <=200bp C - downstream_gene_variant STAD-US 16 2503467 2503467 deletion of <=200bp C - frameshift_variant D548 STAD-US 16 2503500 2503500 single base substitution C T 3_prime_UTR_variant STAD-US 16 2503500 2503500 single base substitution C T downstream_gene_variant STAD-US 16 2503500 2503500 single base substitution C T synonymous_variant H559H 1677C>T STAD-US 16 2506911 2506911 single base substitution C T 3_prime_UTR_variant STAD-US 16 2506911 2506911 single base substitution C T missense_variant R751C 2251C>T UCEC-US 16 2481197 2481197 single base substitution G A exon_variant UCEC-US 16 2481197 2481197 single base substitution G A missense_variant R28Q 83G>A UCEC-US 16 2481197 2481197 single base substitution G A upstream_gene_variant UCEC-US 16 2485828 2485828 single base substitution C T 3_prime_UTR_variant UCEC-US 16 2485828 2485828 single base substitution C T exon_variant UCEC-US 16 2485828 2485828 single base substitution C T synonymous_variant F100F 300C>T UCEC-US 16 2485828 2485828 single base substitution C T upstream_gene_variant UCEC-US 16 2493718 2493718 single base substitution C T 3_prime_UTR_variant UCEC-US 16 2493718 2493718 single base substitution C T exon_variant UCEC-US 16 2493718 2493718 single base substitution C T synonymous_variant I282I 846C>T UCEC-US 16 2495557 2495557 single base substitution G A 3_prime_UTR_variant UCEC-US 16 2495557 2495557 single base substitution G A exon_variant UCEC-US 16 2495557 2495557 single base substitution G A missense_variant R343Q 1028G>A UCEC-US 16 2495622 2495622 single base substitution C T missense_variant R365W 1093C>T UCEC-US 16 2495622 2495622 single base substitution C T splice_region_variant UCEC-US 16 2505435 2505435 single base substitution C T 3_prime_UTR_variant UCEC-US 16 2505435 2505435 single base substitution C T synonymous_variant F585F 1755C>T UCEC-US 16 2506569 2506569 single base substitution G A 3_prime_UTR_variant UCEC-US 16 2506569 2506569 single base substitution G A missense_variant D637N 1909G>A UCEC-US 16 2506755 2506755 single base substitution A G 3_prime_UTR_variant UCEC-US 16 2506755 2506755 single base substitution A G missense_variant T699A 2095A>G UCEC-US 16 2510899 2510899 single base substitution C T downstream_gene_variant UCEC-US 16 2511057 2511057 single base substitution C T downstream_gene_variant UCEC-US 16 2511087 2511087 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-669 COSM1247620 c.2029A>G p.I677V Substitution - Missense 16:2456688-2456688 + T2225 COSM4670229 c.1704G>T p.R568R Substitution - coding silent 16:2453526-2453526 + CHC892T COSM4796775 c.594+1G>A p.? Unknown 16:2438124-2438124 + HT115 COSM969031 c.300C>T p.F100F Substitution - coding silent 16:2435827-2435827 + CSCC-16-T COSM3280918 c.1869C>T p.G623G Substitution - coding silent 16:2455548-2455548 + BB65-RCC COSM22843 c.2123C>T p.A708V Substitution - Missense 16:2456782-2456782 + TCGA-B5-A0JY-01 COSM969096 c.1093C>T p.R365W Substitution - Missense 16:2445621-2445621 + CSCC-38-T COSM4469767 c.161C>T p.A54V Substitution - Missense 16:2431274-2431274 + CSB1 COSM5028051 c.1659C>T p.L553L Substitution - coding silent 16:2453481-2453481 + TCGA-DK-A2I1-01 COSM1301767 c.301G>A p.E101K Substitution - Missense 16:2435828-2435828 + BD72T COSM5054772 c.436G>A p.A146T Substitution - Missense 16:2437218-2437218 + CSCC-16-T COSM3280917 c.1869C>T p.G623G Substitution - coding silent 16:2455548-2455548 + 5T COSM107490 c.594+2T>G p.? Unknown 16:2438125-2438125 + HCC023T COSM5817836 c.1337C>G p.A446G Substitution - Missense 16:2449400-2449400 + DLBCL817 COSM1580668 c.2072G>A p.R691Q Substitution - Missense 16:2456731-2456731 + SJDES004-R COSM4578857 c.2126G>T p.S709I Substitution - Missense 16:2456785-2456785 + OSCC-GB_00330111 COSM3711986 c.466C>T p.P156S Substitution - Missense 16:2437248-2437248 + S00945 COSM309935 c.953T>G p.V318G Substitution - Missense 16:2445481-2445481 + DLBCL781 COSM1580667 c.2072G>A p.R691Q Substitution - Missense 16:2456731-2456731 + 587256 COSM1200158 c.1508A>C p.K503T Substitution - Missense 16:2453230-2453230 + TCGA-FS-A4F5-06 COSM3508014 c.213T>G p.S71R Substitution - Missense 16:2433002-2433002 + TCGA-E2-A15I-01 COSM3817611 c.953T>G p.V318G Substitution - Missense 16:2445481-2445481 + 10-P083 COSM4578849 c.346C>T p.L116L Substitution - coding silent 16:2435873-2435873 + TCGA-EJ-5516-01 COSM1129014 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 + HCT116 COSM1678779 c.395C>A p.S132Y Substitution - Missense 16:2437177-2437177 + 6115115 COSM5566282 c.1518G>A p.R506R Substitution - coding silent 16:2453240-2453240 + TCGA-HU-A4G9-01 COSM3280660 c.684C>T p.S228S Substitution - coding silent 16:2439442-2439442 + CHOL15 COSM1742947 c.1561C>A p.R521S Substitution - Missense 16:2453283-2453283 + TCGA-HC-8257-01 COSM4393671 c.1979C>T p.P660L Substitution - Missense 16:2456638-2456638 + Pat_45_B COSM5850545 c.1264C>T p.P422S Substitution - Missense 16:2449327-2449327 + TCGA-AP-A056-01 COSM969012 c.83G>A p.R28Q Substitution - Missense 16:2431196-2431196 + TCGA-DU-7013-01 COSM3969475 c.1287C>A p.H429Q Substitution - Missense 16:2449350-2449350 + DLBCL817 COSM1580667 c.2072G>A p.R691Q Substitution - Missense 16:2456731-2456731 + S01731 COSM4387036 c.1702C>T p.R568W Substitution - Missense 16:2453524-2453524 + TCGA-CC-A7IH-01 COSM4923484 c.1219-2A>T p.? Unknown 16:2449280-2449280 + SJMB030 COSM255915 c.370G>A p.A124T Substitution - Missense 16:2437152-2437152 + PD7522a COSM4440746 c.445A>T p.I149F Substitution - Missense 16:2437227-2437227 + ESCC_18 COSM5626072 c.2237C>T p.S746L Substitution - Missense 16:2456896-2456896 + TCGA-D3-A2JO-06 COSM3280643 c.555C>T p.S185S Substitution - coding silent 16:2438084-2438084 + S01731 COSM4387037 c.1702C>T p.R568W Substitution - Missense 16:2453524-2453524 + Gp5D COSM3280834 c.1044G>A p.P348P Substitution - coding silent 16:2445572-2445572 + TCGA-B5-A0JY-01 COSM969097 c.1093C>T p.R365W Substitution - Missense 16:2445621-2445621 + 260211 COSM3726025 c.1317G>T p.L439L Substitution - coding silent 16:2449380-2449380 + TCGA-CH-5788-01 COSM1129014 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 + DLBCL705 COSM1580666 c.1411A>G p.T471A Substitution - Missense 16:2449839-2449839 + TCGA-AN-A0AK-01 COSM3817616 c.1460C>T p.P487L Substitution - Missense 16:2449888-2449888 + 2492721 COSM5722379 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + TCGA-CC-A7IF-01 COSM4915541 c.1395G>T p.G465G Substitution - coding silent 16:2449458-2449458 + TCGA-A6-6781-01 COSM1376885 c.685G>A p.D229N Substitution - Missense 16:2439443-2439443 + C0007T COSM3280660 c.684C>T p.S228S Substitution - coding silent 16:2439442-2439442 + 2492720 COSM5722379 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + TCGA-A6-5665-01 COSM1376888 c.1018C>A p.R340R Substitution - coding silent 16:2445546-2445546 + HT115 COSM969030 c.300C>T p.F100F Substitution - coding silent 16:2435827-2435827 + 6115115 COSM5566283 c.1518G>A p.R506R Substitution - coding silent 16:2453240-2453240 + TCGA-CH-5788-01 COSM1129015 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 + TCGA-GF-A6C9-06 COSM4902422 c.1492C>T p.H498Y Substitution - Missense 16:2453214-2453214 + TCGA-CG-4305-01 COSM4059522 c.767G>T p.W256L Substitution - Missense 16:2439816-2439816 + 392 COSM4428156 c.1588-3C>G p.? Unknown 16:2453407-2453407 + DLBCL705 COSM1580665 c.1411A>G p.T471A Substitution - Missense 16:2449839-2449839 + 8016470 COSM3387326 c.1756G>A p.V586I Substitution - Missense 16:2455435-2455435 + CRC-06T COSM5456533 c.1901G>A p.G634D Substitution - Missense 16:2456560-2456560 + Pat_73_A COSM3280885 c.1198G>A p.A400T Substitution - Missense 16:2448958-2448958 + TCGA-ER-A19F-06 COSM969061 c.846C>T p.I282I Substitution - coding silent 16:2443717-2443717 + TCGA-BR-8680-01 COSM969011 c.83G>A p.R28Q Substitution - Missense 16:2431196-2431196 + TCGA-AA-3814-01 COSM293866 c.1571A>C p.E524A Substitution - Missense 16:2453293-2453293 + PD4120a COSM159833 c.1686C>A p.L562L Substitution - coding silent 16:2453508-2453508 + TCGA-CG-4465-01 COSM3280630 c.369C>T p.R123R Substitution - coding silent 16:2437151-2437151 + TCGA-HU-A4H3-01 COSM4059549 c.2251C>T p.R751C Substitution - Missense 16:2456910-2456910 + BK0018 COSM1129015 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 + ESCC_11 COSM3817611 c.953T>G p.V318G Substitution - Missense 16:2445481-2445481 + CHC892T COSM4796775 c.594+1G>A p.? Unknown 16:2438124-2438124 + CSCC-6-T COSM4504709 c.672C>T p.L224L Substitution - coding silent 16:2439430-2439430 + 587338 COSM1200157 c.2113G>A p.V705I Substitution - Missense 16:2456772-2456772 + TCGA-BR-8680-01 COSM969012 c.83G>A p.R28Q Substitution - Missense 16:2431196-2431196 + ICGC_MB68 COSM3764548 c.1428C>T p.D476D Substitution - coding silent 16:2449856-2449856 + TCGA-CC-A7IH-01 COSM4923485 c.1219-2A>T p.? Unknown 16:2449280-2449280 + TCGA-AZ-6598-01 COSM3280749 c.884_886delAAC p.Q297delQ Deletion - In frame 16:2443755-2443757 + BD124T COSM5493372 c.2063G>A p.R688H Substitution - Missense 16:2456722-2456722 + 260211 COSM3726024 c.1317G>T p.L439L Substitution - coding silent 16:2449380-2449380 + EGC15 COSM5054772 c.436G>A p.A146T Substitution - Missense 16:2437218-2437218 + TCGA-AP-A0LM-01 COSM969061 c.846C>T p.I282I Substitution - coding silent 16:2443717-2443717 + CPCG0210-F1 COSM4966566 c.1761C>G p.T587T Substitution - coding silent 16:2455440-2455440 + 3N33-VS-3T33 COSM4980880 c.1215T>G p.I405M Substitution - Missense 16:2448975-2448975 + sysucc-1370T COSM5470472 c.1185C>T p.G395G Substitution - coding silent 16:2448945-2448945 + EGC15 COSM5054773 c.436G>A p.A146T Substitution - Missense 16:2437218-2437218 + DLBCL781 COSM1580668 c.2072G>A p.R691Q Substitution - Missense 16:2456731-2456731 + TCGA-BR-6802-01 COSM4059543 c.1341C>T p.Y447Y Substitution - coding silent 16:2449404-2449404 + TCGA-BS-A0UF-01 COSM969030 c.300C>T p.F100F Substitution - coding silent 16:2435827-2435827 + TCGA-EJ-5516-01 COSM1129015 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 + HT55 COSM3280673 c.732C>T p.F244F Substitution - coding silent 16:2439781-2439781 + C0072T COSM4151284 c.2328G>C p.E776D Substitution - Missense 16:2456987-2456987 + LOVO COSM1376893 c.1561C>T p.R521C Substitution - Missense 16:2453283-2453283 + Pat_26_A COSM5850547 c.1363G>A p.A455T Substitution - Missense 16:2449426-2449426 + cSCCP6 COSM137037 c.109G>A p.E37K Substitution - Missense 16:2431222-2431222 + TCGA-A2-A3Y0-01 COSM3817614 c.1445A>G p.Y482C Substitution - Missense 16:2449873-2449873 + SJMB030 COSM4059520 c.370G>A p.A124T Substitution - Missense 16:2437152-2437152 + HCC023T COSM5817837 c.1337C>G p.A446G Substitution - Missense 16:2449400-2449400 + LC_S12 COSM1189143 c.1592T>G p.L531R Substitution - Missense 16:2453414-2453414 + TCGA-04-1338-01 COSM86102 c.977T>C p.F326S Substitution - Missense 16:2445505-2445505 + EGC8 COSM5054774 c.774G>A p.A258A Substitution - coding silent 16:2439823-2439823 + TCGA-D1-A17Q-01 COSM969119 c.1755C>T p.F585F Substitution - coding silent 16:2455434-2455434 + TCGA-CK-4951-01 COSM5148737 c.181C>T p.Q61* Substitution - Nonsense 16:2432970-2432970 + T263 COSM4670225 c.406A>G p.S136G Substitution - Missense 16:2437188-2437188 + 587256 COSM1200159 c.1508A>C p.K503T Substitution - Missense 16:2453230-2453230 + Br27P COSM39930 c.1185C>G p.G395G Substitution - coding silent 16:2448945-2448945 + TCGA-CD-8527-01 COSM3280827 c.1002C>T p.T334T Substitution - coding silent 16:2445530-2445530 + TCGA-B0-5096-01 COSM471535 c.1953G>A p.Q651Q Substitution - coding silent 16:2456612-2456612 + TCGA-AA-3814-01 COSM293867 c.1571A>C p.E524A Substitution - Missense 16:2453293-2453293 + TCGA-D5-6931-01 COSM5166683 c.1963G>A p.D655N Substitution - Missense 16:2456622-2456622 + TCGA-HU-A4G9-01 COSM4059507 c.62G>A p.R21Q Substitution - Missense 16:2431175-2431175 + EGC8 COSM5054775 c.774G>A p.A258A Substitution - coding silent 16:2439823-2439823 + ESCC_158 COSM5646664 c.869C>T p.S290F Substitution - Missense 16:2443740-2443740 + TCGA-BR-8680-01 COSM4059546 c.1642G>A p.D548N Substitution - Missense 16:2453464-2453464 + TCGA-CC-A7IF-01 COSM4915542 c.1395G>T p.G465G Substitution - coding silent 16:2449458-2449458 + ESCC_18 COSM5626071 c.2237C>T p.S746L Substitution - Missense 16:2456896-2456896 + CSCC-54-T COSM4466882 c.1459C>T p.P487S Substitution - Missense 16:2449887-2449887 + ESCC_11 COSM309935 c.953T>G p.V318G Substitution - Missense 16:2445481-2445481 + TCGA-B0-5096-01 COSM471536 c.1953G>A p.Q651Q Substitution - coding silent 16:2456612-2456612 + TCGA-CD-8527-01 COSM3280828 c.1002C>T p.T334T Substitution - coding silent 16:2445530-2445530 + 3844_T COSM3957379 c.1613C>A p.A538D Substitution - Missense 16:2453435-2453435 + TCGA-CJ-4636-01 COSM471533 c.1693C>T p.P565S Substitution - Missense 16:2453515-2453515 + ICGC_MB68 COSM3764547 c.1428C>T p.D476D Substitution - coding silent 16:2449856-2449856 + BZ04 COSM5757835 c.34G>A p.A12T Substitution - Missense 16:2431147-2431147 + CSCC-6-T COSM4504708 c.672C>T p.L224L Substitution - coding silent 16:2439430-2439430 + SJRHB059R COSM3737113 c.2360_2361delAA p.? Unknown PT32 COSM5907666 c.82C>T p.R28* Substitution - Nonsense 16:2431195-2431195 + 2492723 COSM5722378 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + T263 COSM4670224 c.406A>G p.S136G Substitution - Missense 16:2437188-2437188 + SA214 COSM212238 c.2113G>A p.V705I Substitution - Missense 16:2456772-2456772 + TCGA-JW-A5VL-01 COSM4847470 c.1575C>T p.I525I Substitution - coding silent 16:2453297-2453297 + sysucc-1317T COSM5448826 c.2169A>G p.Q723Q Substitution - coding silent 16:2456828-2456828 + TCGA-CZ-4853-01 COSM471517 c.156C>T p.I52I Substitution - coding silent 16:2431269-2431269 + TCGA-D5-6931-01 COSM5166682 c.1963G>A p.D655N Substitution - Missense 16:2456622-2456622 + OSCC-GB_00120111 COSM3711905 c.1465G>A p.V489I Substitution - Missense 16:2449893-2449893 + TCGA-A6-5665-01 COSM1376887 c.1018C>A p.R340R Substitution - coding silent 16:2445546-2445546 + TCGA-CZ-4853-01 COSM471518 c.156C>T p.I52I Substitution - coding silent 16:2431269-2431269 + HDC87 COSM4636946 c.1652C>A p.T551N Substitution - Missense 16:2453474-2453474 + TCGA-A6-5665-01 COSM5089858 c.1391A>G p.H464R Substitution - Missense 16:2449454-2449454 + TCGA-IR-A3LH-01 COSM4833181 c.523G>C p.E175Q Substitution - Missense 16:2437305-2437305 + HDC87 COSM4636947 c.1652C>A p.T551N Substitution - Missense 16:2453474-2453474 + TCGA-AZ-6598-01 COSM1376889 c.1131C>T p.A377A Substitution - coding silent 16:2448891-2448891 + CSCC-42-T COSM4470232 c.1649C>T p.P550L Substitution - Missense 16:2453471-2453471 + TCGA-D3-A1Q6-06 COSM3508018 c.316C>T p.L106L Substitution - coding silent 16:2435843-2435843 + sysucc-1370T COSM5470471 c.1185C>T p.G395G Substitution - coding silent 16:2448945-2448945 + SNUH_G22_S1 COSM3999808 c.956A>G p.E319G Substitution - Missense 16:2445484-2445484 + pfg043T COSM4748669 c.821T>A p.L274Q Substitution - Missense 16:2443692-2443692 + OSCC-GB_00120111 COSM3711904 c.1465G>A p.V489I Substitution - Missense 16:2449893-2449893 + TCGA-AN-A0AK-01 COSM3817617 c.1460C>T p.P487L Substitution - Missense 16:2449888-2449888 + SNUH_G73_S1 COSM4415321 c.435C>T p.A145A Substitution - coding silent 16:2437217-2437217 + S01020 COSM5664946 c.2024delC p.Q676fs*90 Deletion - Frameshift 16:2456683-2456683 + 107597 COSM94030 c.846C>G p.I282M Substitution - Missense 16:2443717-2443717 + TCGA-B8-4622-01 COSM471538 c.2295G>A p.V765V Substitution - coding silent 16:2456954-2456954 + TCGA-ER-A19F-06 COSM969060 c.846C>T p.I282I Substitution - coding silent 16:2443717-2443717 + TARGET-30-PARBGP COSM1283996 c.2274C>G p.S758R Substitution - Missense 16:2456933-2456933 + 8016470 COSM3387327 c.1756G>A p.V586I Substitution - Missense 16:2455435-2455435 + TCGA-BS-A0UF-01 COSM969031 c.300C>T p.F100F Substitution - coding silent 16:2435827-2435827 + TCGA-AD-6901-01 COSM1376892 c.1364C>A p.A455E Substitution - Missense 16:2449427-2449427 + TCGA-F4-6570-01 COSM5171900 c.1918G>A p.V640M Substitution - Missense 16:2456577-2456577 + TCGA-CG-4306-01 COSM255915 c.370G>A p.A124T Substitution - Missense 16:2437152-2437152 + TCGA-EE-A2GM-06 COSM3508024 c.721C>T p.L241F Substitution - Missense 16:2439770-2439770 + TCGA-DK-A3IN-01 COSM3794713 c.939G>A p.L313L Substitution - coding silent 16:2445467-2445467 + Gp2D COSM3280834 c.1044G>A p.P348P Substitution - coding silent 16:2445572-2445572 + TCGA-D7-8572-01 COSM4059514 c.195G>C p.L65L Substitution - coding silent 16:2432984-2432984 + TCGA-A2-A3Y0-01 COSM3817615 c.1445A>G p.Y482C Substitution - Missense 16:2449873-2449873 + 33T COSM3711987 c.466C>T p.P156S Substitution - Missense 16:2437248-2437248 + SJRHB059R COSM3737112 c.2360_2361delAA p.? Unknown TCGA-CD-A4MG-01 COSM4059547 c.1677C>T p.H559H Substitution - coding silent 16:2453499-2453499 + TCGA-EE-A29M-06 COSM3508044 c.985C>T p.L329L Substitution - coding silent 16:2445513-2445513 + SJMB030 COSM255915 c.370G>A p.A124T Substitution - Missense 16:2437152-2437152 + TCGA-CH-5765-01 COSM1129011 c.1947C>T p.C649C Substitution - coding silent 16:2456606-2456606 + SJDES004-R COSM4578858 c.2126G>T p.S709I Substitution - Missense 16:2456785-2456785 + 2492729 COSM5725823 c.1128G>A p.E376E Substitution - coding silent 16:2448888-2448888 + S01020 COSM5664947 c.2024delC p.Q676fs*90 Deletion - Frameshift 16:2456683-2456683 + 2492720 COSM5722378 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + TCGA-CD-A4MG-01 COSM4059548 c.1677C>T p.H559H Substitution - coding silent 16:2453499-2453499 + TCGA-18-3411-01 COSM702891 c.1835G>T p.C612F Substitution - Missense 16:2455514-2455514 + TCGA-CA-6718-01 COSM1376894 c.1561C>T p.R521C Substitution - Missense 16:2453283-2453283 + TCGA-BR-6802-01 COSM4059544 c.1341C>T p.Y447Y Substitution - coding silent 16:2449404-2449404 + 345973 COSM3726667 c.2121C>T p.T707T Substitution - coding silent 16:2456780-2456780 + TCGA-AD-6901-01 COSM1376891 c.1364C>A p.A455E Substitution - Missense 16:2449427-2449427 + SW48 COSM3280633 c.412G>A p.A138T Substitution - Missense 16:2437194-2437194 + LOVO COSM1376894 c.1561C>T p.R521C Substitution - Missense 16:2453283-2453283 + LUAD-B02216 COSM335419 c.2122G>A p.A708T Substitution - Missense 16:2456781-2456781 + Gp2D COSM3280833 c.1044G>A p.P348P Substitution - coding silent 16:2445572-2445572 + 2492730 COSM5728182 c.102T>C p.S34S Substitution - coding silent 16:2431215-2431215 + TCGA-HU-A4G9-01 COSM3280659 c.684C>T p.S228S Substitution - coding silent 16:2439442-2439442 + TCGA-CH-5765-01 COSM1129012 c.1947C>T p.C649C Substitution - coding silent 16:2456606-2456606 + 6115115 COSM5566281 c.1517G>T p.R506M Substitution - Missense 16:2453239-2453239 + TCGA-CG-4465-01 COSM3280631 c.369C>T p.R123R Substitution - coding silent 16:2437151-2437151 + TCGA-AP-A056-01 COSM969122 c.1909G>A p.D637N Substitution - Missense 16:2456568-2456568 + TCGA-EA-A3HQ-01 COSM4843219 c.1335C>T p.S445S Substitution - coding silent 16:2449398-2449398 + CRC-19T COSM5481290 c.279-4T>A p.? Unknown 16:2435802-2435802 + 33T COSM3711986 c.466C>T p.P156S Substitution - Missense 16:2437248-2437248 + TCGA-E2-A15I-01 COSM309935 c.953T>G p.V318G Substitution - Missense 16:2445481-2445481 + TCGA-HC-8257-01 COSM4393670 c.1979C>T p.P660L Substitution - Missense 16:2456638-2456638 + ESO-081 COSM1243149 c.439C>T p.P147S Substitution - Missense 16:2437221-2437221 + CPCG0103-P8 COSM3396230 c.1463G>T p.C488F Substitution - Missense 16:2449891-2449891 + TCGA-A5-A0VP-01 COSM969094 c.1028G>A p.R343Q Substitution - Missense 16:2445556-2445556 + CRC-06T COSM5456532 c.1901G>A p.G634D Substitution - Missense 16:2456560-2456560 + TCGA-FU-A3HZ-01 COSM4840348 c.1440C>A p.F480L Substitution - Missense 16:2449868-2449868 + PD7522a COSM4440747 c.445A>T p.I149F Substitution - Missense 16:2437227-2437227 + TCGA-22-4599-01 COSM702893 c.1697C>T p.S566L Substitution - Missense 16:2453519-2453519 + TCGA-HU-A4G9-01 COSM4059508 c.62G>A p.R21Q Substitution - Missense 16:2431175-2431175 + CHC892T COSM4796776 c.594+1G>A p.? Unknown 16:2438124-2438124 + CHOL15 COSM1742948 c.1561C>A p.R521S Substitution - Missense 16:2453283-2453283 + ORL-48 COSM4596845 c.220G>A p.A74T Substitution - Missense 16:2433009-2433009 + 2492729 COSM5725825 c.2325G>A p.E775E Substitution - coding silent 16:2456984-2456984 + 2492723 COSM5722379 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + PD4003a COSM159832 c.1896C>T p.P632P Substitution - coding silent 16:2456555-2456555 + BD124T COSM5493373 c.2063G>A p.R688H Substitution - Missense 16:2456722-2456722 + TCGA-18-3411-01 COSM702892 c.1835G>T p.C612F Substitution - Missense 16:2455514-2455514 + TCGA-DK-A3IN-01 COSM3794712 c.939G>A p.L313L Substitution - coding silent 16:2445467-2445467 + 2492730 COSM5728183 c.102T>C p.S34S Substitution - coding silent 16:2431215-2431215 + C0072T COSM4151285 c.2328G>C p.E776D Substitution - Missense 16:2456987-2456987 + ACA25 COSM5961563 c.2028G>C p.Q676H Substitution - Missense 16:2456687-2456687 + BD124T COSM4059507 c.62G>A p.R21Q Substitution - Missense 16:2431175-2431175 + CSCC-54-T COSM4466881 c.1459C>T p.P487S Substitution - Missense 16:2449887-2449887 + 2492722 COSM5722379 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + 93VU147T COSM4591577 c.839G>A p.S280N Substitution - Missense 16:2443710-2443710 + pfg043T COSM4748670 c.821T>A p.L274Q Substitution - Missense 16:2443692-2443692 + CSCC-38-T COSM4469768 c.161C>T p.A54V Substitution - Missense 16:2431274-2431274 + TCGA-G4-6628-01 COSM5180106 c.610C>T p.Q204* Substitution - Nonsense 16:2439368-2439368 + TCGA-A6-2672-01 COSM265547 c.571G>A p.G191S Substitution - Missense 16:2438100-2438100 + CPCG0210-F1 COSM4966567 c.1761C>G p.T587T Substitution - coding silent 16:2455440-2455440 + T1743 COSM4670226 c.1547G>A p.R516Q Substitution - Missense 16:2453269-2453269 + ESCC_158 COSM5646662 c.862C>T p.Q288* Substitution - Nonsense 16:2443733-2443733 + TCGA-EE-A29M-06 COSM3508043 c.985C>T p.L329L Substitution - coding silent 16:2445513-2445513 + TCGA-GF-A6C9-06 COSM4902421 c.1492C>T p.H498Y Substitution - Missense 16:2453214-2453214 + TCGA-DK-A2I1-01 COSM1301766 c.301G>A p.E101K Substitution - Missense 16:2435828-2435828 + TCGA-CA-6718-01 COSM1376893 c.1561C>T p.R521C Substitution - Missense 16:2453283-2453283 + TCGA-A6-6781-01 COSM1376886 c.685G>A p.D229N Substitution - Missense 16:2439443-2439443 + TARGET-30-PARBGP COSM1283997 c.2274C>G p.S758R Substitution - Missense 16:2456933-2456933 + TCGA-BC-A3KF-01 COSM4927902 c.397C>T p.R133C Substitution - Missense 16:2437179-2437179 + 93VU147T COSM4591576 c.839G>A p.S280N Substitution - Missense 16:2443710-2443710 + HT55 COSM3280674 c.732C>T p.F244F Substitution - coding silent 16:2439781-2439781 + TCGA-CG-4305-01 COSM4059521 c.767G>T p.W256L Substitution - Missense 16:2439816-2439816 + LOVO COSM1580663 c.127A>G p.I43V Substitution - Missense 16:2431240-2431240 + TCGA-G4-6628-01 COSM5180105 c.610C>T p.Q204* Substitution - Nonsense 16:2439368-2439368 + ORL-48 COSM4596846 c.220G>A p.A74T Substitution - Missense 16:2433009-2433009 + CSCC-42-T COSM4470233 c.1649C>T p.P550L Substitution - Missense 16:2453471-2453471 + TCGA-C8-A1HK-01 COSM1478699 c.843G>C p.E281D Substitution - Missense 16:2443714-2443714 + TCGA-F4-6570-01 COSM5171901 c.1918G>A p.V640M Substitution - Missense 16:2456577-2456577 + 12T COSM3711905 c.1465G>A p.V489I Substitution - Missense 16:2449893-2449893 + 35M COSM4059520 c.370G>A p.A124T Substitution - Missense 16:2437152-2437152 + B89-11-Tumor COSM309935 c.953T>G p.V318G Substitution - Missense 16:2445481-2445481 + TCGA-AZ-6598-01 COSM3280750 c.884_886delAAC p.Q297delQ Deletion - In frame 16:2443755-2443757 + CRC-19T COSM5481289 c.279-4T>A p.? Unknown 16:2435802-2435802 + TCGA-BR-8680-01 COSM4059545 c.1642G>A p.D548N Substitution - Missense 16:2453464-2453464 + S01020 COSM5664948 c.2025C>A p.T675T Substitution - coding silent 16:2456684-2456684 + HCT116 COSM1678780 c.395C>A p.S132Y Substitution - Missense 16:2437177-2437177 + LC_S12 COSM1189144 c.1592T>G p.L531R Substitution - Missense 16:2453414-2453414 + Pat_45_B COSM5850549 c.1535C>T p.A512V Substitution - Missense 16:2453257-2453257 + 112634 COSM95801 c.870C>A p.S290S Substitution - coding silent 16:2443741-2443741 + 392 COSM4428157 c.1588-3C>G p.? Unknown 16:2453407-2453407 + TCGA-EE-A2A2-06 COSM3508056 c.1222C>T p.P408S Substitution - Missense 16:2449285-2449285 + C0007T COSM3280659 c.684C>T p.S228S Substitution - coding silent 16:2439442-2439442 + Pat_45_B COSM5850546 c.1264C>T p.P422S Substitution - Missense 16:2449327-2449327 + TCGA-C8-A1HK-01 COSM1478698 c.843G>C p.E281D Substitution - Missense 16:2443714-2443714 + TCGA-AP-A0LM-01 COSM969060 c.846C>T p.I282I Substitution - coding silent 16:2443717-2443717 + HT COSM1580663 c.127A>G p.I43V Substitution - Missense 16:2431240-2431240 + CHC892T COSM4796776 c.594+1G>A p.? Unknown 16:2438124-2438124 + HT COSM1580664 c.127A>G p.I43V Substitution - Missense 16:2431240-2431240 + TCGA-D3-A2JO-06 COSM3280642 c.555C>T p.S185S Substitution - coding silent 16:2438084-2438084 + ESO-669 COSM1247619 c.2029A>G p.I677V Substitution - Missense 16:2456688-2456688 + 10-P083 COSM4578848 c.346C>T p.L116L Substitution - coding silent 16:2435873-2435873 + S01020 COSM5664949 c.2025C>A p.T675T Substitution - coding silent 16:2456684-2456684 + LOVO COSM1580664 c.127A>G p.I43V Substitution - Missense 16:2431240-2431240 + Pat_26_A COSM5850548 c.1363G>A p.A455T Substitution - Missense 16:2449426-2449426 + 345973 COSM3726668 c.2121C>T p.T707T Substitution - coding silent 16:2456780-2456780 + TCGA-HU-A4H3-01 COSM4059550 c.2251C>T p.R751C Substitution - Missense 16:2456910-2456910 + TCGA-CH-5741-01 COSM1129015 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 + ESO-081 COSM1243148 c.439C>T p.P147S Substitution - Missense 16:2437221-2437221 + TCGA-JW-A5VL-01 COSM4847471 c.1575C>T p.I525I Substitution - coding silent 16:2453297-2453297 + TCGA-FW-A3R5-06 COSM3888265 c.1130C>T p.A377V Substitution - Missense 16:2448890-2448890 + 3N33-VS-3T33 COSM4980879 c.1215T>G p.I405M Substitution - Missense 16:2448975-2448975 + BD72T COSM5513150 c.1500C>T p.D500D Substitution - coding silent 16:2453222-2453222 + IGROV-1 COSM1683491 c.2267_2268insC p.E757fs*19 Insertion - Frameshift 16:2456926-2456927 + OSCC-GB_00330111 COSM3711987 c.466C>T p.P156S Substitution - Missense 16:2437248-2437248 + 2492722 COSM5722378 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + CPCG0103-P8 COSM3396229 c.1463G>T p.C488F Substitution - Missense 16:2449891-2449891 + TCGA-A5-A0VP-01 COSM969093 c.1028G>A p.R343Q Substitution - Missense 16:2445556-2445556 + TCGA-FS-A4F5-06 COSM3508015 c.213T>G p.S71R Substitution - Missense 16:2433002-2433002 + LUAD-B02216 COSM335420 c.2122G>A p.A708T Substitution - Missense 16:2456781-2456781 + TCGA-EE-A2GM-06 COSM3508025 c.721C>T p.L241F Substitution - Missense 16:2439770-2439770 + TCGA-AZ-6601-01 COSM5142341 c.2267C>T p.P756L Substitution - Missense 16:2456926-2456926 + TCGA-B8-4622-01 COSM471537 c.2295G>A p.V765V Substitution - coding silent 16:2456954-2456954 + TCGA-CJ-4636-01 COSM471534 c.1693C>T p.P565S Substitution - Missense 16:2453515-2453515 + T1743 COSM4670227 c.1547G>A p.R516Q Substitution - Missense 16:2453269-2453269 + TCGA-FU-A3HZ-01 COSM4840349 c.1440C>A p.F480L Substitution - Missense 16:2449868-2449868 + TCGA-FW-A3R5-06 COSM3888264 c.1130C>T p.A377V Substitution - Missense 16:2448890-2448890 + TCGA-CH-5741-01 COSM1129014 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 + T3090 COSM1376889 c.1131C>T p.A377A Substitution - coding silent 16:2448891-2448891 + TCGA-AP-A056-01 COSM969011 c.83G>A p.R28Q Substitution - Missense 16:2431196-2431196 + TCGA-CA-6717-01 COSM969061 c.846C>T p.I282I Substitution - coding silent 16:2443717-2443717 + TCGA-AN-A0FL-01 COSM1478700 c.1008G>T p.E336D Substitution - Missense 16:2445536-2445536 + BD72T COSM5513149 c.1500C>T p.D500D Substitution - coding silent 16:2453222-2453222 + TCGA-EA-A3HQ-01 COSM4843218 c.1335C>T p.S445S Substitution - coding silent 16:2449398-2449398 + HCT-116 COSM1678779 c.395C>A p.S132Y Substitution - Missense 16:2437177-2437177 + 35M COSM255915 c.370G>A p.A124T Substitution - Missense 16:2437152-2437152 + 6115115 COSM5566280 c.1517G>T p.R506M Substitution - Missense 16:2453239-2453239 + TCGA-EE-A2A2-06 COSM3508055 c.1222C>T p.P408S Substitution - Missense 16:2449285-2449285 + TCGA-DU-7013-01 COSM3969474 c.1287C>A p.H429Q Substitution - Missense 16:2449350-2449350 + 66 COSM5743729 c.479G>A p.S160N Substitution - Missense 16:2437261-2437261 + BD72T COSM5054773 c.436G>A p.A146T Substitution - Missense 16:2437218-2437218 + 12T COSM108444 c.1017C>T p.D339D Substitution - coding silent 16:2445545-2445545 + TTC466 COSM4578854 c.656T>C p.L219P Substitution - Missense 16:2439414-2439414 + T3090 COSM1376890 c.1131C>T p.A377A Substitution - coding silent 16:2448891-2448891 + ESCC_158 COSM5646663 c.862C>T p.Q288* Substitution - Nonsense 16:2443733-2443733 + SNUH_G73_S1 COSM4415322 c.435C>T p.A145A Substitution - coding silent 16:2437217-2437217 + Pat_45_B COSM5850550 c.1535C>T p.A512V Substitution - Missense 16:2453257-2453257 + TCGA-CK-4951-01 COSM5148738 c.181C>T p.Q61* Substitution - Nonsense 16:2432970-2432970 + 2492729 COSM5725824 c.1128G>A p.E376E Substitution - coding silent 16:2448888-2448888 + TTC466 COSM4578853 c.656T>C p.L219P Substitution - Missense 16:2439414-2439414 + T2225 COSM4670228 c.1704G>T p.R568R Substitution - coding silent 16:2453526-2453526 + TCGA-A6-5665-01 COSM5089857 c.1391A>G p.H464R Substitution - Missense 16:2449454-2449454 + SW48 COSM3280632 c.412G>A p.A138T Substitution - Missense 16:2437194-2437194 + TCGA-D7-8572-01 COSM4059515 c.195G>C p.L65L Substitution - coding silent 16:2432984-2432984 + PT32 COSM5907665 c.82C>T p.R28* Substitution - Nonsense 16:2431195-2431195 + BZ04 COSM5757836 c.34G>A p.A12T Substitution - Missense 16:2431147-2431147 + TCGA-AP-A0LM-01 COSM969125 c.2095A>G p.T699A Substitution - Missense 16:2456754-2456754 + ESCC_158 COSM5646665 c.869C>T p.S290F Substitution - Missense 16:2443740-2443740 + 3844_T COSM3957378 c.1613C>A p.A538D Substitution - Missense 16:2453435-2453435 + T613 COSM4670230 c.2033C>T p.P678L Substitution - Missense 16:2456692-2456692 + TCGA-AP-A0LM-01 COSM969126 c.2095A>G p.T699A Substitution - Missense 16:2456754-2456754 + TCGA-22-4599-01 COSM702894 c.1697C>T p.S566L Substitution - Missense 16:2453519-2453519 + ACA25 COSM5961562 c.2028G>C p.Q676H Substitution - Missense 16:2456687-2456687 + TCGA-D3-A1Q6-06 COSM3508017 c.316C>T p.L106L Substitution - coding silent 16:2435843-2435843 + SNUH_G22_S1 COSM3999809 c.956A>G p.E319G Substitution - Missense 16:2445484-2445484 + 12T COSM3711904 c.1465G>A p.V489I Substitution - Missense 16:2449893-2449893 + cSCCP6 COSM137036 c.109G>A p.E37K Substitution - Missense 16:2431222-2431222 + CoCM-1 COSM4621013 c.176A>G p.H59R Substitution - Missense 16:2432965-2432965 + STC263 COSM5054780 c.1240A>T p.K414* Substitution - Nonsense 16:2449303-2449303 + TCGA-CA-6717-01 COSM969060 c.846C>T p.I282I Substitution - coding silent 16:2443717-2443717 + TCGA-CG-4306-01 COSM4059520 c.370G>A p.A124T Substitution - Missense 16:2437152-2437152 + STC263 COSM5054781 c.1240A>T p.K414* Substitution - Nonsense 16:2449303-2449303 + sysucc-1317T COSM5448827 c.2169A>G p.Q723Q Substitution - coding silent 16:2456828-2456828 + TCGA-AZ-6598-01 COSM1376890 c.1131C>T p.A377A Substitution - coding silent 16:2448891-2448891 + TCGA-IR-A3LH-01 COSM4833182 c.523G>C p.E175Q Substitution - Missense 16:2437305-2437305 + YUROL COSM5384573 c.53C>T p.P18L Substitution - Missense 16:2431166-2431166 + TCGA-BC-A3KF-01 COSM4927903 c.397C>T p.R133C Substitution - Missense 16:2437179-2437179 + TCGA-D1-A17Q-01 COSM969120 c.1755C>T p.F585F Substitution - coding silent 16:2455434-2455434 + TCGA-A6-2672-01 COSM265548 c.571G>A p.G191S Substitution - Missense 16:2438100-2438100 + B89-11-Tumor COSM3817611 c.953T>G p.V318G Substitution - Missense 16:2445481-2445481 + TCGA-AZ-6601-01 COSM5142342 c.2267C>T p.P756L Substitution - Missense 16:2456926-2456926 + BD124T COSM4059508 c.62G>A p.R21Q Substitution - Missense 16:2431175-2431175 + 2492729 COSM5725826 c.2325G>A p.E775E Substitution - coding silent 16:2456984-2456984 + T613 COSM4670231 c.2033C>T p.P678L Substitution - Missense 16:2456692-2456692 + TCGA-AN-A0FL-01 COSM434966 c.1008G>T p.E336D Substitution - Missense 16:2445536-2445536 + 2492721 COSM5722378 c.1645C>T p.P549S Substitution - Missense 16:2453467-2453467 + TCGA-AP-A056-01 COSM969123 c.1909G>A p.D637N Substitution - Missense 16:2456568-2456568 + CSB1 COSM5028050 c.1659C>T p.L553L Substitution - coding silent 16:2453481-2453481 + 587338 COSM212238 c.2113G>A p.V705I Substitution - Missense 16:2456772-2456772 + CoCM-1 COSM4621012 c.176A>G p.H59R Substitution - Missense 16:2432965-2432965 + 66 COSM5743728 c.479G>A p.S160N Substitution - Missense 16:2437261-2437261 + HCT-116 COSM1678780 c.395C>A p.S132Y Substitution - Missense 16:2437177-2437177 + Gp5D COSM3280833 c.1044G>A p.P348P Substitution - coding silent 16:2445572-2445572 + Pat_73_A COSM3280886 c.1198G>A p.A400T Substitution - Missense 16:2448958-2448958 + IGROV-1 COSM1683492 c.2267_2268insC p.E757fs*19 Insertion - Frameshift 16:2456926-2456927 + YUROL COSM5384574 c.53C>T p.P18L Substitution - Missense 16:2431166-2431166 + BK0018 COSM1129014 c.1519C>A p.Q507K Substitution - Missense 16:2453241-2453241 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.1973 16p13.3 600227

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AAC MultiAAMissense p.N270delinsKH c.809_810insACA 16 2493680 CM A C Missense p.E524A c.1571A>C 16 2503294 COREAD A G Missense p.I677V c.2029A>G 16 2506689 ESCA A T SpliceAcceptorSNV . c.17-2A>T 16 2481129 LUAD C A 3-UTRSNV . c.2358+1358C>A 16 2508376 HC C A Missense p.H429Q c.1287C>A 16 2499351 LGG C A Synonymous p.L562L c.1686C>A 16 2503509 BRCA C G Missense p.S758R c.2274C>G 16 2506934 NB C G Synonymous p.G395G c.1185C>G 16 2498946 GBM C T Missense p.L241F c.721C>T 16 2489771 CM C T Missense p.P408S c.1222C>T 16 2499286 CM C T Missense p.P565S c.1693C>T 16 2503516 RCCC C T Missense p.P660L c.1979C>T 16 2506639 PRAD C T Missense p.R688C c.2062C>T 16 2506722 GBM C T Missense p.S300F c.899C>T 16 2493771 CM C T Missense p.S566L c.1697C>T 16 2503520 LUSC C T Synonymous p.C649C c.1947C>T 16 2506607 PRAD C T Synonymous p.I282I c.846C>T 16 2493718 CM C T Synonymous p.I397I c.1191C>T 16 2498952 CM C T Synonymous p.I52I c.156C>T 16 2481270 RCCC C T Synonymous p.L106L c.316C>T 16 2485844 CM C T Synonymous p.L329L c.985C>T 16 2495514 CM C T Synonymous p.L553L c.1659C>T 16 2503482 BRCA C T Synonymous p.P632P c.1896C>T 16 2506556 BRCA C T Synonymous p.R123R c.369C>T 16 2487152 STAD C T Synonymous p.S185S c.555C>T 16 2488085 CM C T Synonymous p.Y447Y c.1341C>T 16 2499405 STAD G A Missense p.A124T c.370G>A 16 2487153 STAD G A Missense p.E101K c.301G>A 16 2485829 BLCA G A Missense p.R343Q c.1028G>A 16 2495557 UCEC G A Missense p.V705I c.2113G>A 16 2506773 BRCA G A Synonymous p.L313L c.939G>A 16 2495468 BLCA G A Synonymous p.P348P c.1044G>A 16 2495573 HNSC G A Synonymous p.Q651Q c.1953G>A 16 2506613 RCCC G A Synonymous p.V765V c.2295G>A 16 2506955 RCCC G C Missense p.E198Q c.592G>C 16 2488122 HNSC G C Missense p.E281D c.843G>C 16 2493715 BRCA G T Missense p.C612F c.1835G>T 16 2505515 LUSC G T Missense p.E336D c.1008G>T 16 2495537 BRCA G T Missense p.R451L c.1352G>T 16 2499416 HNSC G T Missense p.W256L c.767G>T 16 2489817 STAD T C Missense p.F326S c.977T>C 16 2495506 OV T G Missense p.V318G c.953T>G 16 2495482 SCLC