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 11 1464775 1464775 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr11:1464775G>T c.690G>T c.(688-690)cgG>cgT p.R230R ACC 11 1471882 1471882 + Silent SNP G G A TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr11:1471882G>A c.1353G>A c.(1351-1353)acG>acA p.T451T ACC 11 1472024 1472024 + Splice_Site SNP G G T TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr11:1472024G>T c.1495G>T c.(1495-1497)Gtt>Ttt p.V499F BLCA 11 1463777 1463777 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 g.chr11:1463777C>T c.471C>T c.(469-471)atC>atT p.I157I BLCA 11 1467115 1467115 + Missense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr11:1467115G>A c.1204G>A c.(1204-1206)Gag>Aag p.E402K BLCA 11 1471053 1471053 + Missense_Mutation SNP T T G TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr11:1471053T>G c.1274T>G c.(1273-1275)cTc>cGc p.L425R BLCA 11 1475755 1475755 + Missense_Mutation SNP G G C TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr11:1475755G>C c.1585G>C c.(1585-1587)Gag>Cag p.E529Q BRCA 11 1459590 1459590 + Missense_Mutation SNP C C A TCGA-C8-A1HJ-01A-11D-A13L-09 TCGA-C8-A1HJ-10A-01D-A13O-09 g.chr11:1459590C>A c.241C>A c.(241-243)Ctg>Atg p.L81M BRCA 11 1462075 1462075 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr11:1462075delG c.330delG c.(328-330)aagfs p.K110fs BRCA 11 1463799 1463799 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chr11:1463799C>A c.493C>A c.(493-495)Ctg>Atg p.L165M BRCA 11 1464595 1464595 + Missense_Mutation SNP G G T TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr11:1464595G>T c.595G>T c.(595-597)Gtg>Ttg p.V199L BRCA 11 1466828 1466828 + Silent SNP C C T TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 g.chr11:1466828C>T c.1005C>T c.(1003-1005)ttC>ttT p.F335F BRCA 11 1466879 1466880 + Frame_Shift_Ins INS - - C TCGA-AO-A0J7-01A-11W-A050-09 TCGA-AO-A0J7-10A-01W-A055-09 g.chr11:1466879_1466880insC c.1056_1057insC c.(1057-1059)cccfs p.P353fs BRCA 11 1471018 1471018 + Silent SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 g.chr11:1471018C>T c.1239C>T c.(1237-1239)atC>atT p.I413I BRCA 11 1477639 1477640 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 g.chr11:1477639_1477640insG c.1730_1731insG c.(1729-1734)acggggfs p.TG577fs BRCA 11 1477889 1477889 + Silent SNP C C T TCGA-D8-A1XT-01A-11D-A14K-09 TCGA-D8-A1XT-10A-01D-A14K-09 g.chr11:1477889C>T c.1911C>T c.(1909-1911)caC>caT p.H637H CESC 11 1459617 1459617 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr11:1459617T>G c.268T>G c.(268-270)Tat>Gat p.Y90D CESC 11 1464590 1464590 + Missense_Mutation SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 g.chr11:1464590C>A c.590C>A c.(589-591)gCg>gAg p.A197E CESC 11 1464750 1464750 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr11:1464750G>A c.665G>A c.(664-666)cGa>cAa p.R222Q CESC 11 1467069 1467069 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr11:1467069C>A c.1158C>A c.(1156-1158)ctC>ctA p.L386L CESC 11 1471062 1471062 + Missense_Mutation SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 g.chr11:1471062C>A c.1283C>A c.(1282-1284)cCc>cAc p.P428H COAD 11 1411551 1411551 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr11:1411551G>A c.37G>A c.(37-39)Gcg>Acg p.A13T COAD 11 1466526 1466526 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr11:1466526G>T c.815G>T c.(814-816)gGg>gTg p.G272V COAD 11 1466875 1466875 + Missense_Mutation SNP A A T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:1466875A>T c.1052A>T c.(1051-1053)gAc>gTc p.D351V COAD 11 1467001 1467001 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:1467001C>T c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C COAD 11 1472601 1472601 + Splice_Site SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr11:1472601T>C c.1496T>C c.(1495-1497)gTt>gCt p.V499A COAD 11 1475753 1475753 + Missense_Mutation SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr11:1475753T>C c.1583T>C c.(1582-1584)cTg>cCg p.L528P COAD 11 1480454 1480454 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:1480454C>T c.1972C>T c.(1972-1974)Cgg>Tgg p.R658W COADREAD 11 1411551 1411551 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr11:1411551G>A c.37G>A c.(37-39)Gcg>Acg p.A13T COADREAD 11 1466526 1466526 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr11:1466526G>T c.815G>T c.(814-816)gGg>gTg p.G272V COADREAD 11 1466584 1466584 + Silent SNP G G A TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr11:1466584G>A c.873G>A c.(871-873)tcG>tcA p.S291S COADREAD 11 1466875 1466875 + Missense_Mutation SNP A A T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:1466875A>T c.1052A>T c.(1051-1053)gAc>gTc p.D351V COADREAD 11 1467001 1467001 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:1467001C>T c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C COADREAD 11 1472601 1472601 + Splice_Site SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr11:1472601T>C c.1496T>C c.(1495-1497)gTt>gCt p.V499A COADREAD 11 1475753 1475753 + Missense_Mutation SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr11:1475753T>C c.1583T>C c.(1582-1584)cTg>cCg p.L528P COADREAD 11 1480454 1480454 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:1480454C>T c.1972C>T c.(1972-1974)Cgg>Tgg p.R658W DLBC 11 1411572 1411572 + Missense_Mutation SNP C C T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr11:1411572C>T c.58C>T c.(58-60)Cgg>Tgg p.R20W DLBC 11 1467077 1467077 + Missense_Mutation SNP C C T TCGA-FF-8043-01A-11D-2210-10 TCGA-FF-8043-10A-01D-2210-10 g.chr11:1467077C>T c.1166C>T c.(1165-1167)aCg>aTg p.T389M ESCA 11 1459589 1459589 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr11:1459589G>T c.240G>T c.(238-240)aaG>aaT p.K80N ESCA 11 1475821 1475821 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr11:1475821G>A c.1651G>A c.(1651-1653)Gtg>Atg p.V551M GBMLGG 11 1464847 1464847 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:1464847C>T c.762C>T c.(760-762)gaC>gaT p.D254D GBMLGG 11 1477639 1477639 + Missense_Mutation SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 g.chr11:1477639C>T c.1730C>T c.(1729-1731)aCg>aTg p.T577M GBMLGG 11 1477653 1477653 + Missense_Mutation SNP G G A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 g.chr11:1477653G>A c.1744G>A c.(1744-1746)Gtg>Atg p.V582M HNSC 11 1463797 1463797 + Missense_Mutation SNP C C T TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr11:1463797C>T c.491C>T c.(490-492)tCc>tTc p.S164F HNSC 11 1464609 1464609 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chr11:1464609C>T c.609C>T c.(607-609)ggC>ggT p.G203G HNSC 11 1467115 1467115 + Missense_Mutation SNP G G A TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr11:1467115G>A c.1204G>A c.(1204-1206)Gag>Aag p.E402K HNSC 11 1471018 1471018 + Missense_Mutation SNP C C G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr11:1471018C>G c.1239C>G c.(1237-1239)atC>atG p.I413M HNSC 11 1475730 1475730 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr11:1475730C>T c.1560C>T c.(1558-1560)tcC>tcT p.S520S HNSC 11 1475777 1475777 + Missense_Mutation SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr11:1475777T>C c.1607T>C c.(1606-1608)gTg>gCg p.V536A KICH 11 1466625 1466625 + Missense_Mutation SNP G G A TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr11:1466625G>A c.914G>A c.(913-915)aGc>aAc p.S305N KIPAN 11 1459605 1459605 + Missense_Mutation SNP G G A TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr11:1459605G>A c.256G>A c.(256-258)Gaa>Aaa p.E86K KIPAN 11 1466623 1466623 + Silent SNP C C T TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr11:1466623C>T c.912C>T c.(910-912)gaC>gaT p.D304D KIPAN 11 1466625 1466625 + Missense_Mutation SNP G G A TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr11:1466625G>A c.914G>A c.(913-915)aGc>aAc p.S305N KIRP 11 1459605 1459605 + Missense_Mutation SNP G G A TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr11:1459605G>A c.256G>A c.(256-258)Gaa>Aaa p.E86K KIRP 11 1466623 1466623 + Silent SNP C C T TCGA-B9-4114-01A-01D-1252-08 TCGA-B9-4114-10A-01D-1252-08 g.chr11:1466623C>T c.912C>T c.(910-912)gaC>gaT p.D304D LGG 11 1464847 1464847 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:1464847C>T c.762C>T c.(760-762)gaC>gaT p.D254D LGG 11 1477639 1477639 + Missense_Mutation SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 g.chr11:1477639C>T c.1730C>T c.(1729-1731)aCg>aTg p.T577M LGG 11 1477653 1477653 + Missense_Mutation SNP G G A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 g.chr11:1477653G>A c.1744G>A c.(1744-1746)Gtg>Atg p.V582M LIHC 11 1464728 1464728 + Missense_Mutation SNP C C T TCGA-MI-A75G-01A-11D-A32G-10 TCGA-MI-A75G-10A-01D-A32G-10 g.chr11:1464728C>T c.643C>T c.(643-645)Ccc>Tcc p.P215S LIHC 11 1466531 1466531 + Missense_Mutation SNP A A G TCGA-EP-A2KC-01A-11D-A20W-10 TCGA-EP-A2KC-10A-01D-A20W-10 g.chr11:1466531A>G c.820A>G c.(820-822)Aag>Gag p.K274E LIHC 11 1472640 1472640 + Missense_Mutation SNP C C T TCGA-CC-5261-01A-01D-A12Z-10 TCGA-CC-5261-10A-01D-A12Z-10 g.chr11:1472640C>T c.1535C>T c.(1534-1536)tCg>tTg p.S512L LIHC 11 1477640 1477640 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr11:1477640delG c.1731delG c.(1729-1731)acgfs p.T577fs LUAD 11 1462057 1462057 + Silent SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 g.chr11:1462057C>T c.312C>T c.(310-312)ttC>ttT p.F104F LUAD 11 1463777 1463777 + Silent SNP C C T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr11:1463777C>T c.471C>T c.(469-471)atC>atT p.I157I LUAD 11 1464569 1464569 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr11:1464569A>G c.569A>G c.(568-570)gAg>gGg p.E190G LUAD 11 1464594 1464594 + Missense_Mutation SNP C C A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr11:1464594C>A c.594C>A c.(592-594)gaC>gaA p.D198E LUAD 11 1464734 1464734 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr11:1464734G>T c.649G>T c.(649-651)Gac>Tac p.D217Y LUAD 11 1464822 1464822 + Missense_Mutation SNP T T C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chr11:1464822T>C c.737T>C c.(736-738)cTg>cCg p.L246P LUAD 11 1466580 1466580 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr11:1466580G>A c.869G>A c.(868-870)cGc>cAc p.R290H LUAD 11 1466885 1466885 + Silent SNP C C A TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr11:1466885C>A c.1062C>A c.(1060-1062)ccC>ccA p.P354P LUAD 11 1467069 1467069 + Silent SNP C C T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr11:1467069C>T c.1158C>T c.(1156-1158)ctC>ctT p.L386L LUAD 11 1467115 1467115 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr11:1467115G>A c.1204G>A c.(1204-1206)Gag>Aag p.E402K LUAD 11 1467122 1467122 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr11:1467122delC c.1211delC c.(1210-1212)gccfs p.A404fs LUAD 11 1471064 1471064 + Missense_Mutation SNP C C T TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr11:1471064C>T c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W LUAD 11 1475797 1475797 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr11:1475797C>T c.1627C>T c.(1627-1629)Ctg>Ttg p.L543L LUSC 11 1466647 1466647 + Silent SNP C C T TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr11:1466647C>T c.936C>T c.(934-936)ttC>ttT p.F312F LUSC 11 1467049 1467049 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr11:1467049C>T c.1138C>T c.(1138-1140)Cgc>Tgc p.R380C LUSC 11 1467072 1467072 + Missense_Mutation SNP C C A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr11:1467072C>A c.1161C>A c.(1159-1161)agC>agA p.S387R READ 11 1466584 1466584 + Silent SNP G G A TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr11:1466584G>A c.873G>A c.(871-873)tcG>tcA p.S291S SARC 11 1467009 1467009 + Missense_Mutation SNP C C G TCGA-X6-A8C5-01A-11D-A36J-09 TCGA-X6-A8C5-10A-01D-A36M-09 g.chr11:1467009C>G c.1098C>G c.(1096-1098)gaC>gaG p.D366E SKCM 11 1459553 1459553 + Silent SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr11:1459553G>A c.204G>A c.(202-204)gcG>gcA p.A68A SKCM 11 1459553 1459553 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr11:1459553G>A c.204G>A c.(202-204)gcG>gcA p.A68A SKCM 11 1466554 1466554 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:1466554G>A c.843G>A c.(841-843)caG>caA p.Q281Q SKCM 11 1466993 1466993 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr11:1466993C>T c.1082C>T c.(1081-1083)cCc>cTc p.P361L SKCM 11 1467078 1467078 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr11:1467078G>A c.1167G>A c.(1165-1167)acG>acA p.T389T SKCM 11 1471065 1471065 + Splice_Site SNP G G A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr11:1471065G>A c.1286G>A c.(1285-1287)cGg>cAg p.R429Q SKCM 11 1471927 1471927 + Silent SNP C C T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr11:1471927C>T c.1398C>T c.(1396-1398)tcC>tcT p.S466S SKCM 11 1471968 1471968 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr11:1471968A>G c.1439A>G c.(1438-1440)aAc>aGc p.N480S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 1463777 1463777 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 11 1463777 1463777 single base substitution C T downstream_gene_variant BLCA-US 11 1463777 1463777 single base substitution C T exon_variant BLCA-US 11 1463777 1463777 single base substitution C T synonymous_variant I157I 471C>T BLCA-US 11 1463777 1463777 single base substitution C T synonymous_variant I203I 609C>T BLCA-US 11 1463777 1463777 single base substitution C T synonymous_variant I97I 291C>T BOCA-FR 11 1425984 1425984 single base substitution G A intron_variant BOCA-FR 11 1425984 1425984 single base substitution G A upstream_gene_variant BOCA-FR 11 1482350 1482350 single base substitution T C 3_prime_UTR_variant BOCA-FR 11 1482350 1482350 single base substitution T C downstream_gene_variant BOCA-FR 11 1482350 1482350 single base substitution T C exon_variant BRCA-EU 11 1406237 1406237 single base substitution C T upstream_gene_variant BRCA-EU 11 1409223 1409223 single base substitution C T upstream_gene_variant BRCA-EU 11 1413168 1413168 single base substitution C G intron_variant BRCA-EU 11 1413350 1413350 single base substitution G A intron_variant BRCA-EU 11 1413891 1413891 single base substitution G T intron_variant BRCA-EU 11 1414248 1414248 single base substitution G A intron_variant BRCA-EU 11 1414589 1414589 single base substitution G A intron_variant BRCA-EU 11 1415138 1415138 single base substitution C A intron_variant BRCA-EU 11 1415561 1415561 single base substitution A C intron_variant BRCA-EU 11 1415849 1415849 single base substitution C A intron_variant BRCA-EU 11 1415915 1415915 single base substitution C A intron_variant BRCA-EU 11 1416152 1416152 single base substitution C A intron_variant BRCA-EU 11 1418227 1418227 single base substitution G A intron_variant BRCA-EU 11 1418505 1418505 single base substitution G A intron_variant BRCA-EU 11 1419907 1419907 single base substitution G T intron_variant BRCA-EU 11 1421118 1421118 single base substitution C T intron_variant BRCA-EU 11 1422104 1422104 single base substitution G T intron_variant BRCA-EU 11 1425190 1425190 single base substitution G A intron_variant BRCA-EU 11 1426093 1426093 single base substitution C T intron_variant BRCA-EU 11 1426093 1426093 single base substitution C T upstream_gene_variant BRCA-EU 11 1426407 1426407 single base substitution G A intron_variant BRCA-EU 11 1426407 1426407 single base substitution G A upstream_gene_variant BRCA-EU 11 1426662 1426662 single base substitution G A intron_variant BRCA-EU 11 1426662 1426662 single base substitution G A upstream_gene_variant BRCA-EU 11 1427262 1427272 deletion of <=200bp CTCTGTCCCAG - intron_variant BRCA-EU 11 1427262 1427272 deletion of <=200bp CTCTGTCCCAG - upstream_gene_variant BRCA-EU 11 1427450 1427450 single base substitution C A intron_variant BRCA-EU 11 1427450 1427450 single base substitution C A upstream_gene_variant BRCA-EU 11 1429000 1429000 single base substitution C G intron_variant BRCA-EU 11 1429000 1429000 single base substitution C G upstream_gene_variant BRCA-EU 11 1429730 1429730 single base substitution G A intron_variant BRCA-EU 11 1429730 1429730 single base substitution G A upstream_gene_variant BRCA-EU 11 1429732 1429732 single base substitution C T intron_variant BRCA-EU 11 1429732 1429732 single base substitution C T upstream_gene_variant BRCA-EU 11 1435678 1435678 single base substitution A C intron_variant BRCA-EU 11 1436942 1436942 single base substitution C T intron_variant BRCA-EU 11 1438160 1438160 single base substitution G A intron_variant BRCA-EU 11 1438411 1438411 single base substitution C T intron_variant BRCA-EU 11 1438596 1438596 single base substitution C T intron_variant BRCA-EU 11 1441143 1441143 single base substitution G A intron_variant BRCA-EU 11 1442791 1442791 single base substitution A T intron_variant BRCA-EU 11 1443361 1443361 single base substitution G C intron_variant BRCA-EU 11 1444064 1444064 single base substitution C T intron_variant BRCA-EU 11 1444649 1444649 single base substitution G A intron_variant BRCA-EU 11 1444778 1444778 deletion of <=200bp G - intron_variant BRCA-EU 11 1445142 1445142 deletion of <=200bp C - intron_variant BRCA-EU 11 1445858 1445858 insertion of <=200bp - CCT intron_variant BRCA-EU 11 1445874 1445874 single base substitution A G intron_variant BRCA-EU 11 1446457 1446457 single base substitution A C intron_variant BRCA-EU 11 1447056 1447056 single base substitution G C intron_variant BRCA-EU 11 1447441 1447441 single base substitution G A intron_variant BRCA-EU 11 1448159 1448159 insertion of <=200bp - G intron_variant BRCA-EU 11 1450781 1450781 single base substitution G A intron_variant BRCA-EU 11 1454346 1454346 single base substitution T C intron_variant BRCA-EU 11 1455819 1455819 single base substitution G T intron_variant BRCA-EU 11 1457956 1457956 single base substitution C G intron_variant BRCA-EU 11 1457956 1457956 single base substitution C G upstream_gene_variant BRCA-EU 11 1457957 1457957 single base substitution C A intron_variant BRCA-EU 11 1457957 1457957 single base substitution C A upstream_gene_variant BRCA-EU 11 1459436 1459436 single base substitution C T intron_variant BRCA-EU 11 1459436 1459436 single base substitution C T upstream_gene_variant BRCA-EU 11 1462379 1462379 single base substitution G C intron_variant BRCA-EU 11 1462379 1462379 single base substitution G C upstream_gene_variant BRCA-EU 11 1463192 1463192 single base substitution C T intron_variant BRCA-EU 11 1463192 1463192 single base substitution C T upstream_gene_variant BRCA-EU 11 1463702 1463702 single base substitution C T exon_variant BRCA-EU 11 1463702 1463702 single base substitution C T intron_variant BRCA-EU 11 1463702 1463702 single base substitution C T upstream_gene_variant BRCA-EU 11 1465206 1465206 single base substitution A C downstream_gene_variant BRCA-EU 11 1465206 1465206 single base substitution A C intron_variant BRCA-EU 11 1465420 1465420 single base substitution T C downstream_gene_variant BRCA-EU 11 1465420 1465420 single base substitution T C intron_variant BRCA-EU 11 1465434 1465434 single base substitution G A downstream_gene_variant BRCA-EU 11 1465434 1465434 single base substitution G A intron_variant BRCA-EU 11 1466380 1466380 single base substitution G C downstream_gene_variant BRCA-EU 11 1466380 1466380 single base substitution G C intron_variant BRCA-EU 11 1466755 1466755 single base substitution G A downstream_gene_variant BRCA-EU 11 1466755 1466755 single base substitution G A intron_variant BRCA-EU 11 1467988 1467988 single base substitution C T downstream_gene_variant BRCA-EU 11 1467988 1467988 single base substitution C T intron_variant BRCA-EU 11 1467988 1467988 single base substitution C T upstream_gene_variant BRCA-EU 11 1469729 1469729 single base substitution C T downstream_gene_variant BRCA-EU 11 1469729 1469729 single base substitution C T intron_variant BRCA-EU 11 1469729 1469729 single base substitution C T upstream_gene_variant BRCA-EU 11 1470255 1470255 single base substitution C G downstream_gene_variant BRCA-EU 11 1470255 1470255 single base substitution C G intron_variant BRCA-EU 11 1470255 1470255 single base substitution C G upstream_gene_variant BRCA-EU 11 1471122 1471122 single base substitution A T downstream_gene_variant BRCA-EU 11 1471122 1471122 single base substitution A T intron_variant BRCA-EU 11 1471122 1471122 single base substitution A T upstream_gene_variant BRCA-EU 11 1472681 1472716 deletion of <=200bp CCTGACACCAGGCTGGCCGGGAGAGGGGCATGGAAC - intron_variant BRCA-EU 11 1472681 1472716 deletion of <=200bp CCTGACACCAGGCTGGCCGGGAGAGGGGCATGGAAC - upstream_gene_variant BRCA-EU 11 1473583 1473583 single base substitution C T intron_variant BRCA-EU 11 1473583 1473583 single base substitution C T upstream_gene_variant BRCA-EU 11 1476058 1476058 single base substitution C T intron_variant BRCA-EU 11 1476339 1476339 single base substitution C T intron_variant BRCA-EU 11 1477009 1477009 single base substitution G A intron_variant BRCA-EU 11 1477026 1477026 single base substitution C A intron_variant BRCA-EU 11 1477912 1477912 single base substitution T C 3_prime_UTR_variant BRCA-EU 11 1477912 1477912 single base substitution T C exon_variant BRCA-EU 11 1477912 1477912 single base substitution T C missense_variant L183S 548T>C BRCA-EU 11 1477912 1477912 single base substitution T C missense_variant L340S 1019T>C BRCA-EU 11 1477912 1477912 single base substitution T C missense_variant L585S 1754T>C BRCA-EU 11 1477912 1477912 single base substitution T C missense_variant L645S 1934T>C BRCA-EU 11 1477912 1477912 single base substitution T C missense_variant L667S 2000T>C BRCA-EU 11 1477912 1477912 single base substitution T C missense_variant L691S 2072T>C BRCA-EU 11 1478413 1478413 single base substitution C T downstream_gene_variant BRCA-EU 11 1478413 1478413 single base substitution C T intron_variant BRCA-EU 11 1483248 1483248 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 1483248 1483248 single base substitution G C downstream_gene_variant BRCA-EU 11 1483280 1483280 single base substitution C A 3_prime_UTR_variant BRCA-EU 11 1483280 1483280 single base substitution C A downstream_gene_variant BRCA-EU 11 1483778 1483778 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 1483778 1483778 single base substitution C G downstream_gene_variant BRCA-EU 11 1483821 1483821 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 1483821 1483821 single base substitution C G downstream_gene_variant BRCA-EU 11 1484108 1484108 single base substitution C G downstream_gene_variant BRCA-EU 11 1485961 1485961 single base substitution G C downstream_gene_variant BRCA-EU 11 1487338 1487338 single base substitution C G downstream_gene_variant BRCA-EU 11 1487990 1487990 single base substitution G A downstream_gene_variant BRCA-EU 11 1488048 1488048 single base substitution G C downstream_gene_variant BRCA-EU 11 1488077 1488077 single base substitution C T downstream_gene_variant BRCA-FR 11 1409223 1409223 single base substitution C T upstream_gene_variant BRCA-FR 11 1413891 1413891 single base substitution G T intron_variant BRCA-FR 11 1414589 1414589 single base substitution G A intron_variant BRCA-FR 11 1426662 1426662 single base substitution G A intron_variant BRCA-FR 11 1426662 1426662 single base substitution G A upstream_gene_variant BRCA-FR 11 1446457 1446457 single base substitution A C intron_variant BRCA-FR 11 1447056 1447056 single base substitution G C intron_variant BRCA-FR 11 1470255 1470255 single base substitution C G downstream_gene_variant BRCA-FR 11 1470255 1470255 single base substitution C G intron_variant BRCA-FR 11 1470255 1470255 single base substitution C G upstream_gene_variant BRCA-FR 11 1476058 1476058 single base substitution C T intron_variant BRCA-FR 11 1476339 1476339 single base substitution C T intron_variant BRCA-FR 11 1477009 1477009 single base substitution G A intron_variant BRCA-FR 11 1477912 1477912 single base substitution T C 3_prime_UTR_variant BRCA-FR 11 1477912 1477912 single base substitution T C exon_variant BRCA-FR 11 1477912 1477912 single base substitution T C missense_variant L183S 548T>C BRCA-FR 11 1477912 1477912 single base substitution T C missense_variant L340S 1019T>C BRCA-FR 11 1477912 1477912 single base substitution T C missense_variant L585S 1754T>C BRCA-FR 11 1477912 1477912 single base substitution T C missense_variant L645S 1934T>C BRCA-FR 11 1477912 1477912 single base substitution T C missense_variant L667S 2000T>C BRCA-FR 11 1477912 1477912 single base substitution T C missense_variant L691S 2072T>C BRCA-FR 11 1478631 1478631 single base substitution G A downstream_gene_variant BRCA-FR 11 1478631 1478631 single base substitution G A intron_variant BRCA-FR 11 1483778 1483778 single base substitution C G 3_prime_UTR_variant BRCA-FR 11 1483778 1483778 single base substitution C G downstream_gene_variant BRCA-FR 11 1487338 1487338 single base substitution C G downstream_gene_variant BRCA-FR 11 1488048 1488048 single base substitution G C downstream_gene_variant BRCA-US 11 1459590 1459590 single base substitution C A exon_variant BRCA-US 11 1459590 1459590 single base substitution C A missense_variant L127M 379C>A BRCA-US 11 1459590 1459590 single base substitution C A missense_variant L21M 61C>A BRCA-US 11 1459590 1459590 single base substitution C A missense_variant L81M 241C>A BRCA-US 11 1459590 1459590 single base substitution C A upstream_gene_variant BRCA-US 11 1462075 1462075 deletion of <=200bp G - exon_variant BRCA-US 11 1462075 1462075 deletion of <=200bp G - frameshift_variant K110 BRCA-US 11 1462075 1462075 deletion of <=200bp G - frameshift_variant K156 BRCA-US 11 1462075 1462075 deletion of <=200bp G - frameshift_variant K50 BRCA-US 11 1462075 1462075 deletion of <=200bp G - upstream_gene_variant BRCA-US 11 1463799 1463799 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 1463799 1463799 single base substitution C A downstream_gene_variant BRCA-US 11 1463799 1463799 single base substitution C A exon_variant BRCA-US 11 1463799 1463799 single base substitution C A missense_variant L105M 313C>A BRCA-US 11 1463799 1463799 single base substitution C A missense_variant L165M 493C>A BRCA-US 11 1463799 1463799 single base substitution C A missense_variant L211M 631C>A BRCA-US 11 1464595 1464595 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 1464595 1464595 single base substitution G T downstream_gene_variant BRCA-US 11 1464595 1464595 single base substitution G T exon_variant BRCA-US 11 1464595 1464595 single base substitution G T missense_variant V139L 415G>T BRCA-US 11 1464595 1464595 single base substitution G T missense_variant V199L 595G>T BRCA-US 11 1464595 1464595 single base substitution G T missense_variant V245L 733G>T BRCA-US 11 1466828 1466828 single base substitution C T 3_prime_UTR_variant BRCA-US 11 1466828 1466828 single base substitution C T downstream_gene_variant BRCA-US 11 1466828 1466828 single base substitution C T exon_variant BRCA-US 11 1466828 1466828 single base substitution C T synonymous_variant F275F 825C>T BRCA-US 11 1466828 1466828 single base substitution C T synonymous_variant F30F 90C>T BRCA-US 11 1466828 1466828 single base substitution C T synonymous_variant F335F 1005C>T BRCA-US 11 1466828 1466828 single base substitution C T synonymous_variant F381F 1143C>T BRCA-US 11 1466879 1466879 insertion of <=200bp - C 3_prime_UTR_variant BRCA-US 11 1466879 1466879 insertion of <=200bp - C downstream_gene_variant BRCA-US 11 1466879 1466879 insertion of <=200bp - C exon_variant BRCA-US 11 1466879 1466879 insertion of <=200bp - C frameshift_variant L292L? BRCA-US 11 1466879 1466879 insertion of <=200bp - C frameshift_variant L352L? BRCA-US 11 1466879 1466879 insertion of <=200bp - C frameshift_variant L398L? BRCA-US 11 1466879 1466879 insertion of <=200bp - C frameshift_variant L47L? BRCA-US 11 1471018 1471018 single base substitution C T 3_prime_UTR_variant BRCA-US 11 1471018 1471018 single base substitution C T downstream_gene_variant BRCA-US 11 1471018 1471018 single base substitution C T exon_variant BRCA-US 11 1471018 1471018 single base substitution C T synonymous_variant I108I 324C>T BRCA-US 11 1471018 1471018 single base substitution C T synonymous_variant I353I 1059C>T BRCA-US 11 1471018 1471018 single base substitution C T synonymous_variant I413I 1239C>T BRCA-US 11 1471018 1471018 single base substitution C T synonymous_variant I435I 1305C>T BRCA-US 11 1471018 1471018 single base substitution C T synonymous_variant I459I 1377C>T BRCA-US 11 1471018 1471018 single base substitution C T upstream_gene_variant BRCA-US 11 1477889 1477889 single base substitution C T 3_prime_UTR_variant BRCA-US 11 1477889 1477889 single base substitution C T exon_variant BRCA-US 11 1477889 1477889 single base substitution C T synonymous_variant H175H 525C>T BRCA-US 11 1477889 1477889 single base substitution C T synonymous_variant H332H 996C>T BRCA-US 11 1477889 1477889 single base substitution C T synonymous_variant H577H 1731C>T BRCA-US 11 1477889 1477889 single base substitution C T synonymous_variant H637H 1911C>T BRCA-US 11 1477889 1477889 single base substitution C T synonymous_variant H659H 1977C>T BRCA-US 11 1477889 1477889 single base substitution C T synonymous_variant H683H 2049C>T BTCA-JP 11 1464827 1464827 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 11 1464827 1464827 single base substitution C T downstream_gene_variant BTCA-JP 11 1464827 1464827 single base substitution C T exon_variant BTCA-JP 11 1464827 1464827 single base substitution C T missense_variant R188W 562C>T BTCA-JP 11 1464827 1464827 single base substitution C T missense_variant R248W 742C>T BTCA-JP 11 1464827 1464827 single base substitution C T missense_variant R294W 880C>T BTCA-JP 11 1464912 1464912 single base substitution G A downstream_gene_variant BTCA-JP 11 1464912 1464912 single base substitution G A intron_variant BTCA-JP 11 1466218 1466219 deletion of <=200bp AC - downstream_gene_variant BTCA-JP 11 1466218 1466219 deletion of <=200bp AC - exon_variant BTCA-JP 11 1466218 1466219 deletion of <=200bp AC - frameshift_variant KH206 BTCA-JP 11 1466218 1466219 deletion of <=200bp AC - frameshift_variant KH266 BTCA-JP 11 1466218 1466219 deletion of <=200bp AC - frameshift_variant KH312 BTCA-JP 11 1466218 1466219 deletion of <=200bp AC - intron_variant BTCA-JP 11 1466259 1466259 single base substitution G A downstream_gene_variant BTCA-JP 11 1466259 1466259 single base substitution G A intron_variant BTCA-JP 11 1472400 1472400 single base substitution G A intron_variant BTCA-JP 11 1472400 1472400 single base substitution G A upstream_gene_variant BTCA-JP 11 1481731 1481731 single base substitution C A downstream_gene_variant BTCA-JP 11 1481731 1481731 single base substitution C A intron_variant BTCA-JP 11 1481731 1481731 single base substitution C A splice_region_variant CESC-US 11 1459617 1459617 single base substitution T G exon_variant CESC-US 11 1459617 1459617 single base substitution T G missense_variant Y136D 406T>G CESC-US 11 1459617 1459617 single base substitution T G missense_variant Y30D 88T>G CESC-US 11 1459617 1459617 single base substitution T G missense_variant Y90D 268T>G CESC-US 11 1459617 1459617 single base substitution T G upstream_gene_variant CESC-US 11 1464590 1464590 single base substitution C A 5_prime_UTR_variant CESC-US 11 1464590 1464590 single base substitution C A downstream_gene_variant CESC-US 11 1464590 1464590 single base substitution C A exon_variant CESC-US 11 1464590 1464590 single base substitution C A missense_variant A137E 410C>A CESC-US 11 1464590 1464590 single base substitution C A missense_variant A197E 590C>A CESC-US 11 1464590 1464590 single base substitution C A missense_variant A243E 728C>A CESC-US 11 1464750 1464750 single base substitution G A 5_prime_UTR_variant CESC-US 11 1464750 1464750 single base substitution G A downstream_gene_variant CESC-US 11 1464750 1464750 single base substitution G A exon_variant CESC-US 11 1464750 1464750 single base substitution G A missense_variant R162Q 485G>A CESC-US 11 1464750 1464750 single base substitution G A missense_variant R222Q 665G>A CESC-US 11 1464750 1464750 single base substitution G A missense_variant R268Q 803G>A CESC-US 11 1467069 1467069 single base substitution C A 3_prime_UTR_variant CESC-US 11 1467069 1467069 single base substitution C A downstream_gene_variant CESC-US 11 1467069 1467069 single base substitution C A exon_variant CESC-US 11 1467069 1467069 single base substitution C A synonymous_variant L326L 978C>A CESC-US 11 1467069 1467069 single base substitution C A synonymous_variant L386L 1158C>A CESC-US 11 1467069 1467069 single base substitution C A synonymous_variant L432L 1296C>A CESC-US 11 1467069 1467069 single base substitution C A synonymous_variant L81L 243C>A CESC-US 11 1467069 1467069 single base substitution C A upstream_gene_variant CESC-US 11 1471062 1471062 single base substitution C A 3_prime_UTR_variant CESC-US 11 1471062 1471062 single base substitution C A downstream_gene_variant CESC-US 11 1471062 1471062 single base substitution C A exon_variant CESC-US 11 1471062 1471062 single base substitution C A missense_variant P123H 368C>A CESC-US 11 1471062 1471062 single base substitution C A missense_variant P368H 1103C>A CESC-US 11 1471062 1471062 single base substitution C A missense_variant P428H 1283C>A CESC-US 11 1471062 1471062 single base substitution C A missense_variant P450H 1349C>A CESC-US 11 1471062 1471062 single base substitution C A missense_variant P474H 1421C>A CESC-US 11 1471062 1471062 single base substitution C A upstream_gene_variant CLLE-ES 11 1413389 1413389 single base substitution G C intron_variant CLLE-ES 11 1422237 1422237 single base substitution T C intron_variant CLLE-ES 11 1425473 1425473 single base substitution T C intron_variant CLLE-ES 11 1425827 1425827 single base substitution C T intron_variant CLLE-ES 11 1425827 1425827 single base substitution C T upstream_gene_variant CLLE-ES 11 1437555 1437555 single base substitution T G intron_variant CLLE-ES 11 1441248 1441248 single base substitution G A intron_variant CLLE-ES 11 1446544 1446544 single base substitution C T intron_variant CLLE-ES 11 1447759 1447759 single base substitution G A intron_variant CLLE-ES 11 1455607 1455607 single base substitution G A intron_variant CLLE-ES 11 1458971 1458971 single base substitution C A intron_variant CLLE-ES 11 1458971 1458971 single base substitution C A upstream_gene_variant CLLE-ES 11 1472214 1472214 single base substitution G C intron_variant CLLE-ES 11 1472214 1472214 single base substitution G C upstream_gene_variant CLLE-ES 11 1485110 1485110 single base substitution C T downstream_gene_variant COAD-US 11 1411551 1411551 single base substitution G A exon_variant COAD-US 11 1411551 1411551 single base substitution G A missense_variant A13T 37G>A COAD-US 11 1466526 1466526 single base substitution G T downstream_gene_variant COAD-US 11 1466526 1466526 single base substitution G T missense_variant G212V 635G>T COAD-US 11 1466526 1466526 single base substitution G T missense_variant G272V 815G>T COAD-US 11 1466526 1466526 single base substitution G T missense_variant G318V 953G>T COAD-US 11 1466526 1466526 single base substitution G T splice_region_variant COAD-US 11 1466875 1466875 single base substitution A T 3_prime_UTR_variant COAD-US 11 1466875 1466875 single base substitution A T downstream_gene_variant COAD-US 11 1466875 1466875 single base substitution A T exon_variant COAD-US 11 1466875 1466875 single base substitution A T missense_variant D291V 872A>T COAD-US 11 1466875 1466875 single base substitution A T missense_variant D351V 1052A>T COAD-US 11 1466875 1466875 single base substitution A T missense_variant D397V 1190A>T COAD-US 11 1466875 1466875 single base substitution A T missense_variant D46V 137A>T COAD-US 11 1466880 1466880 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 11 1466880 1466880 deletion of <=200bp C - downstream_gene_variant COAD-US 11 1466880 1466880 deletion of <=200bp C - exon_variant COAD-US 11 1466880 1466880 deletion of <=200bp C - frameshift_variant P293 COAD-US 11 1466880 1466880 deletion of <=200bp C - frameshift_variant P353 COAD-US 11 1466880 1466880 deletion of <=200bp C - frameshift_variant P399 COAD-US 11 1466880 1466880 deletion of <=200bp C - frameshift_variant P48 COAD-US 11 1467001 1467001 single base substitution C T 3_prime_UTR_variant COAD-US 11 1467001 1467001 single base substitution C T downstream_gene_variant COAD-US 11 1467001 1467001 single base substitution C T exon_variant COAD-US 11 1467001 1467001 single base substitution C T missense_variant R304C 910C>T COAD-US 11 1467001 1467001 single base substitution C T missense_variant R364C 1090C>T COAD-US 11 1467001 1467001 single base substitution C T missense_variant R410C 1228C>T COAD-US 11 1467001 1467001 single base substitution C T missense_variant R59C 175C>T COAD-US 11 1467001 1467001 single base substitution C T upstream_gene_variant COAD-US 11 1475753 1475753 single base substitution T C 3_prime_UTR_variant COAD-US 11 1475753 1475753 single base substitution T C exon_variant COAD-US 11 1475753 1475753 single base substitution T C missense_variant L223P 668T>C COAD-US 11 1475753 1475753 single base substitution T C missense_variant L468P 1403T>C COAD-US 11 1475753 1475753 single base substitution T C missense_variant L528P 1583T>C COAD-US 11 1475753 1475753 single base substitution T C missense_variant L550P 1649T>C COAD-US 11 1475753 1475753 single base substitution T C missense_variant L574P 1721T>C COAD-US 11 1475753 1475753 single base substitution T C missense_variant L66P 197T>C COAD-US 11 1480454 1480454 single base substitution C T 3_prime_UTR_variant COAD-US 11 1480454 1480454 single base substitution C T downstream_gene_variant COAD-US 11 1480454 1480454 single base substitution C T exon_variant COAD-US 11 1480454 1480454 single base substitution C T intron_variant COAD-US 11 1480454 1480454 single base substitution C T missense_variant R196W 586C>T COAD-US 11 1480454 1480454 single base substitution C T missense_variant R658W 1972C>T COAD-US 11 1480454 1480454 single base substitution C T missense_variant R704W 2110C>T COCA-CN 11 1411648 1411648 single base substitution C A intron_variant COCA-CN 11 1424586 1424586 single base substitution C T intron_variant COCA-CN 11 1433736 1433736 single base substitution T G intron_variant COCA-CN 11 1433741 1433741 single base substitution A G intron_variant COCA-CN 11 1433743 1433743 single base substitution C G intron_variant COCA-CN 11 1433747 1433747 single base substitution G C intron_variant COCA-CN 11 1436423 1436423 single base substitution G C intron_variant COCA-CN 11 1438765 1438765 single base substitution A C intron_variant COCA-CN 11 1438775 1438775 single base substitution G T intron_variant COCA-CN 11 1454675 1454675 single base substitution T C intron_variant COCA-CN 11 1457405 1457405 single base substitution T G intron_variant COCA-CN 11 1457405 1457405 single base substitution T G upstream_gene_variant COCA-CN 11 1458237 1458237 single base substitution T G intron_variant COCA-CN 11 1458237 1458237 single base substitution T G upstream_gene_variant COCA-CN 11 1459542 1459542 single base substitution C T exon_variant COCA-CN 11 1459542 1459542 single base substitution C T missense_variant R111W 331C>T COCA-CN 11 1459542 1459542 single base substitution C T missense_variant R5W 13C>T COCA-CN 11 1459542 1459542 single base substitution C T missense_variant R65W 193C>T COCA-CN 11 1459542 1459542 single base substitution C T upstream_gene_variant COCA-CN 11 1466218 1466218 single base substitution A G downstream_gene_variant COCA-CN 11 1466218 1466218 single base substitution A G exon_variant COCA-CN 11 1466218 1466218 single base substitution A G intron_variant COCA-CN 11 1466218 1466218 single base substitution A G synonymous_variant K206K 618A>G COCA-CN 11 1466218 1466218 single base substitution A G synonymous_variant K266K 798A>G COCA-CN 11 1466218 1466218 single base substitution A G synonymous_variant K312K 936A>G COCA-CN 11 1466364 1466364 single base substitution G A downstream_gene_variant COCA-CN 11 1466364 1466364 single base substitution G A intron_variant COCA-CN 11 1466597 1466597 single base substitution G T 3_prime_UTR_variant COCA-CN 11 1466597 1466597 single base substitution G T 5_prime_UTR_variant COCA-CN 11 1466597 1466597 single base substitution G T downstream_gene_variant COCA-CN 11 1466597 1466597 single base substitution G T exon_variant COCA-CN 11 1466597 1466597 single base substitution G T stop_gained E236* 706G>T COCA-CN 11 1466597 1466597 single base substitution G T stop_gained E296* 886G>T COCA-CN 11 1466597 1466597 single base substitution G T stop_gained E342* 1024G>T COCA-CN 11 1467377 1467377 single base substitution G A downstream_gene_variant COCA-CN 11 1467377 1467377 single base substitution G A intron_variant COCA-CN 11 1467377 1467377 single base substitution G A upstream_gene_variant COCA-CN 11 1467403 1467403 single base substitution G A downstream_gene_variant COCA-CN 11 1467403 1467403 single base substitution G A intron_variant COCA-CN 11 1467403 1467403 single base substitution G A upstream_gene_variant COCA-CN 11 1472561 1472561 single base substitution G A intron_variant COCA-CN 11 1472561 1472561 single base substitution G A upstream_gene_variant COCA-CN 11 1473961 1473961 single base substitution A G intron_variant COCA-CN 11 1473961 1473961 single base substitution A G upstream_gene_variant COCA-CN 11 1475406 1475406 single base substitution G A exon_variant COCA-CN 11 1475406 1475406 single base substitution G A intron_variant COCA-CN 11 1475406 1475406 single base substitution G A upstream_gene_variant COCA-CN 11 1475775 1475775 single base substitution C T 3_prime_UTR_variant COCA-CN 11 1475775 1475775 single base substitution C T exon_variant COCA-CN 11 1475775 1475775 single base substitution C T synonymous_variant F230F 690C>T COCA-CN 11 1475775 1475775 single base substitution C T synonymous_variant F475F 1425C>T COCA-CN 11 1475775 1475775 single base substitution C T synonymous_variant F535F 1605C>T COCA-CN 11 1475775 1475775 single base substitution C T synonymous_variant F557F 1671C>T COCA-CN 11 1475775 1475775 single base substitution C T synonymous_variant F581F 1743C>T COCA-CN 11 1475775 1475775 single base substitution C T synonymous_variant F73F 219C>T COCA-CN 11 1481610 1481610 single base substitution T C downstream_gene_variant COCA-CN 11 1481610 1481610 single base substitution T C intron_variant COCA-CN 11 1481691 1481691 single base substitution C T downstream_gene_variant COCA-CN 11 1481691 1481691 single base substitution C T intron_variant COCA-CN 11 1481715 1481715 single base substitution G T downstream_gene_variant COCA-CN 11 1481715 1481715 single base substitution G T intron_variant COCA-CN 11 1481930 1481930 single base substitution A G downstream_gene_variant COCA-CN 11 1481930 1481930 single base substitution A G intron_variant COCA-CN 11 1481930 1481930 single base substitution A G missense_variant T730A 2188A>G COCA-CN 11 1481930 1481930 single base substitution A G missense_variant T760A 2278A>G EOPC-DE 11 1417462 1417462 single base substitution C A intron_variant EOPC-DE 11 1421446 1421446 single base substitution C T intron_variant EOPC-DE 11 1454683 1454683 single base substitution C T intron_variant ESAD-UK 11 1407099 1407099 single base substitution T G upstream_gene_variant ESAD-UK 11 1407912 1407912 single base substitution T C upstream_gene_variant ESAD-UK 11 1407969 1407969 single base substitution A T upstream_gene_variant ESAD-UK 11 1408359 1408359 single base substitution C A upstream_gene_variant ESAD-UK 11 1408407 1408407 single base substitution T C upstream_gene_variant ESAD-UK 11 1409575 1409575 single base substitution C A upstream_gene_variant ESAD-UK 11 1412089 1412089 single base substitution C A intron_variant ESAD-UK 11 1413538 1413538 single base substitution C T intron_variant ESAD-UK 11 1413733 1413733 single base substitution C T intron_variant ESAD-UK 11 1414308 1414308 single base substitution C T intron_variant ESAD-UK 11 1415531 1415531 single base substitution C T intron_variant ESAD-UK 11 1420121 1420121 single base substitution G T intron_variant ESAD-UK 11 1420760 1420760 single base substitution G A intron_variant ESAD-UK 11 1421835 1421835 single base substitution G A intron_variant ESAD-UK 11 1421853 1421853 single base substitution C T intron_variant ESAD-UK 11 1424766 1424766 single base substitution C T intron_variant ESAD-UK 11 1424839 1424839 single base substitution G A intron_variant ESAD-UK 11 1427031 1427031 single base substitution G A intron_variant ESAD-UK 11 1427031 1427031 single base substitution G A upstream_gene_variant ESAD-UK 11 1427588 1427588 single base substitution G T intron_variant ESAD-UK 11 1427588 1427588 single base substitution G T upstream_gene_variant ESAD-UK 11 1428112 1428112 single base substitution G A intron_variant ESAD-UK 11 1428112 1428112 single base substitution G A upstream_gene_variant ESAD-UK 11 1432017 1432017 single base substitution C T 5_prime_UTR_variant ESAD-UK 11 1432017 1432017 single base substitution C T intron_variant ESAD-UK 11 1432017 1432017 single base substitution C T upstream_gene_variant ESAD-UK 11 1432744 1432744 single base substitution G T intron_variant ESAD-UK 11 1432744 1432744 single base substitution G T missense_variant R37M 110G>T ESAD-UK 11 1434735 1434735 single base substitution G A intron_variant ESAD-UK 11 1435367 1435367 insertion of <=200bp - AATTT intron_variant ESAD-UK 11 1437870 1437870 single base substitution T C intron_variant ESAD-UK 11 1438695 1438695 single base substitution T C intron_variant ESAD-UK 11 1440058 1440058 single base substitution T C intron_variant ESAD-UK 11 1440515 1440515 single base substitution G A intron_variant ESAD-UK 11 1440600 1440600 single base substitution C T intron_variant ESAD-UK 11 1440770 1440770 single base substitution G A intron_variant ESAD-UK 11 1442234 1442234 single base substitution T G intron_variant ESAD-UK 11 1442349 1442349 single base substitution C T intron_variant ESAD-UK 11 1446812 1446812 single base substitution G A intron_variant ESAD-UK 11 1447005 1447005 single base substitution G A intron_variant ESAD-UK 11 1448988 1448988 insertion of <=200bp - T intron_variant ESAD-UK 11 1450180 1450180 single base substitution C T intron_variant ESAD-UK 11 1454422 1454422 single base substitution G T intron_variant ESAD-UK 11 1454795 1454795 single base substitution C T intron_variant ESAD-UK 11 1461227 1461227 single base substitution G T intron_variant ESAD-UK 11 1461227 1461227 single base substitution G T upstream_gene_variant ESAD-UK 11 1466146 1466146 single base substitution G A downstream_gene_variant ESAD-UK 11 1466146 1466146 single base substitution G A intron_variant ESAD-UK 11 1466312 1466312 single base substitution A G downstream_gene_variant ESAD-UK 11 1466312 1466312 single base substitution A G intron_variant ESAD-UK 11 1466389 1466389 single base substitution G A downstream_gene_variant ESAD-UK 11 1466389 1466389 single base substitution G A intron_variant ESAD-UK 11 1467089 1467089 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 1467089 1467089 single base substitution C T downstream_gene_variant ESAD-UK 11 1467089 1467089 single base substitution C T exon_variant ESAD-UK 11 1467089 1467089 single base substitution C T missense_variant S333F 998C>T ESAD-UK 11 1467089 1467089 single base substitution C T missense_variant S393F 1178C>T ESAD-UK 11 1467089 1467089 single base substitution C T missense_variant S439F 1316C>T ESAD-UK 11 1467089 1467089 single base substitution C T missense_variant S88F 263C>T ESAD-UK 11 1467089 1467089 single base substitution C T upstream_gene_variant ESAD-UK 11 1471551 1471551 single base substitution C G downstream_gene_variant ESAD-UK 11 1471551 1471551 single base substitution C G intron_variant ESAD-UK 11 1471551 1471551 single base substitution C G upstream_gene_variant ESAD-UK 11 1472169 1472169 single base substitution G A intron_variant ESAD-UK 11 1472169 1472169 single base substitution G A upstream_gene_variant ESAD-UK 11 1472604 1472604 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 1472604 1472604 single base substitution C T exon_variant ESAD-UK 11 1472604 1472604 single base substitution C T missense_variant P195L 584C>T ESAD-UK 11 1472604 1472604 single base substitution C T missense_variant P38L 113C>T ESAD-UK 11 1472604 1472604 single base substitution C T missense_variant P440L 1319C>T ESAD-UK 11 1472604 1472604 single base substitution C T missense_variant P500L 1499C>T ESAD-UK 11 1472604 1472604 single base substitution C T missense_variant P522L 1565C>T ESAD-UK 11 1472604 1472604 single base substitution C T missense_variant P546L 1637C>T ESAD-UK 11 1472604 1472604 single base substitution C T upstream_gene_variant ESAD-UK 11 1473250 1473250 single base substitution G A intron_variant ESAD-UK 11 1473250 1473250 single base substitution G A upstream_gene_variant ESAD-UK 11 1474432 1474432 single base substitution G A intron_variant ESAD-UK 11 1474432 1474432 single base substitution G A upstream_gene_variant ESAD-UK 11 1474705 1474705 single base substitution T C intron_variant ESAD-UK 11 1474705 1474705 single base substitution T C upstream_gene_variant ESAD-UK 11 1476307 1476307 single base substitution C T intron_variant ESAD-UK 11 1479406 1479406 single base substitution C G downstream_gene_variant ESAD-UK 11 1479406 1479406 single base substitution C G intron_variant ESAD-UK 11 1481940 1481940 single base substitution G A downstream_gene_variant ESAD-UK 11 1481940 1481940 single base substitution G A intron_variant ESAD-UK 11 1481940 1481940 single base substitution G A missense_variant R733H 2198G>A ESAD-UK 11 1481940 1481940 single base substitution G A missense_variant R763H 2288G>A ESAD-UK 11 1484121 1484121 single base substitution C A downstream_gene_variant ESAD-UK 11 1484616 1484616 single base substitution G A downstream_gene_variant ESAD-UK 11 1485215 1485215 single base substitution C T downstream_gene_variant ESAD-UK 11 1486897 1486897 single base substitution C T downstream_gene_variant ESCA-CN 11 1457366 1457366 single base substitution T G splice_donor_variant ESCA-CN 11 1457366 1457366 single base substitution T G upstream_gene_variant ESCA-CN 11 1457370 1457370 single base substitution T G splice_region_variant ESCA-CN 11 1457370 1457370 single base substitution T G upstream_gene_variant ESCA-CN 11 1457469 1457469 single base substitution T G intron_variant ESCA-CN 11 1457469 1457469 single base substitution T G upstream_gene_variant ESCA-CN 11 1477712 1477712 single base substitution G T 3_prime_UTR_variant ESCA-CN 11 1477712 1477712 single base substitution G T exon_variant ESCA-CN 11 1477712 1477712 single base substitution G T synonymous_variant A139A 417G>T ESCA-CN 11 1477712 1477712 single base substitution G T synonymous_variant A296A 888G>T ESCA-CN 11 1477712 1477712 single base substitution G T synonymous_variant A541A 1623G>T ESCA-CN 11 1477712 1477712 single base substitution G T synonymous_variant A601A 1803G>T ESCA-CN 11 1477712 1477712 single base substitution G T synonymous_variant A623A 1869G>T ESCA-CN 11 1477712 1477712 single base substitution G T synonymous_variant A647A 1941G>T KIRC-US 11 1459547 1459547 single base substitution G T exon_variant KIRC-US 11 1459547 1459547 single base substitution G T missense_variant E112D 336G>T KIRC-US 11 1459547 1459547 single base substitution G T missense_variant E66D 198G>T KIRC-US 11 1459547 1459547 single base substitution G T missense_variant E6D 18G>T KIRC-US 11 1459547 1459547 single base substitution G T upstream_gene_variant KIRP-US 11 1459605 1459605 single base substitution G A exon_variant KIRP-US 11 1459605 1459605 single base substitution G A missense_variant E132K 394G>A KIRP-US 11 1459605 1459605 single base substitution G A missense_variant E26K 76G>A KIRP-US 11 1459605 1459605 single base substitution G A missense_variant E86K 256G>A KIRP-US 11 1459605 1459605 single base substitution G A upstream_gene_variant KIRP-US 11 1466527 1466527 single base substitution G C 5_prime_UTR_variant KIRP-US 11 1466527 1466527 single base substitution G C downstream_gene_variant KIRP-US 11 1466527 1466527 single base substitution G C exon_variant KIRP-US 11 1466527 1466527 single base substitution G C synonymous_variant G212G 636G>C KIRP-US 11 1466527 1466527 single base substitution G C synonymous_variant G272G 816G>C KIRP-US 11 1466527 1466527 single base substitution G C synonymous_variant G318G 954G>C KIRP-US 11 1466623 1466623 single base substitution C T 3_prime_UTR_variant KIRP-US 11 1466623 1466623 single base substitution C T 5_prime_UTR_variant KIRP-US 11 1466623 1466623 single base substitution C T downstream_gene_variant KIRP-US 11 1466623 1466623 single base substitution C T exon_variant KIRP-US 11 1466623 1466623 single base substitution C T synonymous_variant D244D 732C>T KIRP-US 11 1466623 1466623 single base substitution C T synonymous_variant D304D 912C>T KIRP-US 11 1466623 1466623 single base substitution C T synonymous_variant D350D 1050C>T LAML-KR 11 1415598 1415598 single base substitution C T intron_variant LAML-KR 11 1415600 1415600 single base substitution A C intron_variant LAML-KR 11 1415613 1415613 single base substitution A C intron_variant LAML-KR 11 1417415 1417415 single base substitution T C intron_variant LAML-KR 11 1417441 1417441 single base substitution A G intron_variant LAML-KR 11 1417447 1417447 single base substitution G C intron_variant LAML-KR 11 1417451 1417451 single base substitution C T intron_variant LAML-KR 11 1419233 1419233 single base substitution C T intron_variant LAML-KR 11 1431426 1431426 single base substitution T C intron_variant LAML-KR 11 1431426 1431426 single base substitution T C upstream_gene_variant LAML-KR 11 1431613 1431613 single base substitution C T intron_variant LAML-KR 11 1431613 1431613 single base substitution C T upstream_gene_variant LAML-KR 11 1438851 1438851 single base substitution A T intron_variant LAML-KR 11 1439108 1439108 single base substitution G T intron_variant LAML-KR 11 1439411 1439411 single base substitution T A intron_variant LAML-KR 11 1439776 1439776 single base substitution G T intron_variant LAML-KR 11 1439808 1439808 single base substitution G A intron_variant LAML-KR 11 1440349 1440349 single base substitution G A intron_variant LAML-KR 11 1447495 1447495 single base substitution C T intron_variant LAML-KR 11 1447532 1447532 single base substitution G T intron_variant LAML-KR 11 1454346 1454346 single base substitution T C intron_variant LAML-KR 11 1455816 1455816 single base substitution C T intron_variant LAML-KR 11 1459413 1459413 single base substitution A T intron_variant LAML-KR 11 1459413 1459413 single base substitution A T upstream_gene_variant LAML-KR 11 1463200 1463200 single base substitution A G intron_variant LAML-KR 11 1463200 1463200 single base substitution A G upstream_gene_variant LAML-KR 11 1470175 1470175 single base substitution T C downstream_gene_variant LAML-KR 11 1470175 1470175 single base substitution T C intron_variant LAML-KR 11 1470175 1470175 single base substitution T C upstream_gene_variant LGG-US 11 1477639 1477639 single base substitution C T 3_prime_UTR_variant LGG-US 11 1477639 1477639 single base substitution C T exon_variant LGG-US 11 1477639 1477639 single base substitution C T missense_variant T115M 344C>T LGG-US 11 1477639 1477639 single base substitution C T missense_variant T272M 815C>T LGG-US 11 1477639 1477639 single base substitution C T missense_variant T517M 1550C>T LGG-US 11 1477639 1477639 single base substitution C T missense_variant T577M 1730C>T LGG-US 11 1477639 1477639 single base substitution C T missense_variant T599M 1796C>T LGG-US 11 1477639 1477639 single base substitution C T missense_variant T623M 1868C>T LGG-US 11 1477653 1477653 single base substitution G A 3_prime_UTR_variant LGG-US 11 1477653 1477653 single base substitution G A exon_variant LGG-US 11 1477653 1477653 single base substitution G A missense_variant V120M 358G>A LGG-US 11 1477653 1477653 single base substitution G A missense_variant V277M 829G>A LGG-US 11 1477653 1477653 single base substitution G A missense_variant V522M 1564G>A LGG-US 11 1477653 1477653 single base substitution G A missense_variant V582M 1744G>A LGG-US 11 1477653 1477653 single base substitution G A missense_variant V604M 1810G>A LGG-US 11 1477653 1477653 single base substitution G A missense_variant V628M 1882G>A LICA-FR 11 1411537 1411537 single base substitution G T exon_variant LICA-FR 11 1411537 1411537 single base substitution G T missense_variant G8V 23G>T LICA-FR 11 1429160 1429160 single base substitution C T intron_variant LICA-FR 11 1429160 1429160 single base substitution C T upstream_gene_variant LICA-FR 11 1464343 1464343 single base substitution C T 5_prime_UTR_variant LICA-FR 11 1464343 1464343 single base substitution C T downstream_gene_variant LICA-FR 11 1464343 1464343 single base substitution C T exon_variant LICA-FR 11 1464343 1464343 single base substitution C T missense_variant H120Y 358C>T LICA-FR 11 1464343 1464343 single base substitution C T missense_variant H180Y 538C>T LICA-FR 11 1464343 1464343 single base substitution C T missense_variant H226Y 676C>T LICA-FR 11 1478884 1478884 single base substitution C A downstream_gene_variant LICA-FR 11 1478884 1478884 single base substitution C A intron_variant LICA-FR 11 1484996 1484996 single base substitution C T downstream_gene_variant LIHC-US 11 1464728 1464728 single base substitution C T 5_prime_UTR_variant LIHC-US 11 1464728 1464728 single base substitution C T downstream_gene_variant LIHC-US 11 1464728 1464728 single base substitution C T exon_variant LIHC-US 11 1464728 1464728 single base substitution C T missense_variant P155S 463C>T LIHC-US 11 1464728 1464728 single base substitution C T missense_variant P215S 643C>T LIHC-US 11 1464728 1464728 single base substitution C T missense_variant P261S 781C>T LIHC-US 11 1466531 1466531 single base substitution A G 5_prime_UTR_variant LIHC-US 11 1466531 1466531 single base substitution A G downstream_gene_variant LIHC-US 11 1466531 1466531 single base substitution A G exon_variant LIHC-US 11 1466531 1466531 single base substitution A G missense_variant K214E 640A>G LIHC-US 11 1466531 1466531 single base substitution A G missense_variant K274E 820A>G LIHC-US 11 1466531 1466531 single base substitution A G missense_variant K320E 958A>G LIHC-US 11 1466647 1466647 single base substitution C A 3_prime_UTR_variant LIHC-US 11 1466647 1466647 single base substitution C A downstream_gene_variant LIHC-US 11 1466647 1466647 single base substitution C A exon_variant LIHC-US 11 1466647 1466647 single base substitution C A missense_variant F252L 756C>A LIHC-US 11 1466647 1466647 single base substitution C A missense_variant F312L 936C>A LIHC-US 11 1466647 1466647 single base substitution C A missense_variant F358L 1074C>A LIHC-US 11 1466647 1466647 single base substitution C A missense_variant F7L 21C>A LIHC-US 11 1472640 1472640 single base substitution C T 3_prime_UTR_variant LIHC-US 11 1472640 1472640 single base substitution C T exon_variant LIHC-US 11 1472640 1472640 single base substitution C T missense_variant S207L 620C>T LIHC-US 11 1472640 1472640 single base substitution C T missense_variant S452L 1355C>T LIHC-US 11 1472640 1472640 single base substitution C T missense_variant S50L 149C>T LIHC-US 11 1472640 1472640 single base substitution C T missense_variant S512L 1535C>T LIHC-US 11 1472640 1472640 single base substitution C T missense_variant S534L 1601C>T LIHC-US 11 1472640 1472640 single base substitution C T missense_variant S558L 1673C>T LIHC-US 11 1472640 1472640 single base substitution C T upstream_gene_variant LINC-JP 11 1406989 1406989 deletion of <=200bp C - upstream_gene_variant LINC-JP 11 1407694 1407694 single base substitution C T upstream_gene_variant LINC-JP 11 1424159 1424159 single base substitution C G intron_variant LINC-JP 11 1426247 1426248 deletion of <=200bp GG - intron_variant LINC-JP 11 1426247 1426248 deletion of <=200bp GG - upstream_gene_variant LINC-JP 11 1432825 1432825 single base substitution A G intron_variant LINC-JP 11 1432825 1432825 single base substitution A G missense_variant Q64R 191A>G LINC-JP 11 1466540 1466540 single base substitution C T 3_prime_UTR_variant LINC-JP 11 1466540 1466540 single base substitution C T 5_prime_UTR_variant LINC-JP 11 1466540 1466540 single base substitution C T downstream_gene_variant LINC-JP 11 1466540 1466540 single base substitution C T exon_variant LINC-JP 11 1466540 1466540 single base substitution C T missense_variant P217S 649C>T LINC-JP 11 1466540 1466540 single base substitution C T missense_variant P277S 829C>T LINC-JP 11 1466540 1466540 single base substitution C T missense_variant P323S 967C>T LINC-JP 11 1466799 1466799 single base substitution A G downstream_gene_variant LINC-JP 11 1466799 1466799 single base substitution A G splice_acceptor_variant LINC-JP 11 1471757 1471757 deletion of <=200bp C - downstream_gene_variant LINC-JP 11 1471757 1471757 deletion of <=200bp C - intron_variant LINC-JP 11 1471757 1471757 deletion of <=200bp C - upstream_gene_variant LINC-JP 11 1473387 1473387 single base substitution C T intron_variant LINC-JP 11 1473387 1473387 single base substitution C T upstream_gene_variant LINC-JP 11 1477509 1477509 single base substitution G T intron_variant LINC-JP 11 1477970 1477970 single base substitution A G intron_variant LINC-JP 11 1478118 1478118 single base substitution G A intron_variant LINC-JP 11 1480451 1480451 single base substitution G A 3_prime_UTR_variant LINC-JP 11 1480451 1480451 single base substitution G A downstream_gene_variant LINC-JP 11 1480451 1480451 single base substitution G A exon_variant LINC-JP 11 1480451 1480451 single base substitution G A intron_variant LINC-JP 11 1480451 1480451 single base substitution G A missense_variant G195R 583G>A LINC-JP 11 1480451 1480451 single base substitution G A missense_variant G657R 1969G>A LINC-JP 11 1480451 1480451 single base substitution G A missense_variant G703R 2107G>A LINC-JP 11 1485369 1485369 single base substitution T C downstream_gene_variant LIRI-JP 11 1406859 1406859 single base substitution A G upstream_gene_variant LIRI-JP 11 1407451 1407451 single base substitution G C upstream_gene_variant LIRI-JP 11 1407995 1407995 single base substitution T A upstream_gene_variant LIRI-JP 11 1414140 1414140 single base substitution G T intron_variant LIRI-JP 11 1418132 1418132 single base substitution G A intron_variant LIRI-JP 11 1421110 1421110 single base substitution C T intron_variant LIRI-JP 11 1421610 1421610 single base substitution G C intron_variant LIRI-JP 11 1426068 1426068 single base substitution G A intron_variant LIRI-JP 11 1426068 1426068 single base substitution G A upstream_gene_variant LIRI-JP 11 1428754 1428754 single base substitution A T intron_variant LIRI-JP 11 1428754 1428754 single base substitution A T upstream_gene_variant LIRI-JP 11 1436951 1436951 single base substitution A G intron_variant LIRI-JP 11 1438415 1438415 single base substitution C A intron_variant LIRI-JP 11 1438474 1438474 single base substitution T C intron_variant LIRI-JP 11 1439887 1439887 single base substitution G A intron_variant LIRI-JP 11 1440806 1440806 single base substitution C G intron_variant LIRI-JP 11 1440820 1440820 single base substitution A G intron_variant LIRI-JP 11 1444471 1444471 single base substitution C G intron_variant LIRI-JP 11 1448810 1448810 single base substitution G A intron_variant LIRI-JP 11 1454766 1454766 single base substitution G T intron_variant LIRI-JP 11 1458129 1458129 single base substitution C T intron_variant LIRI-JP 11 1458129 1458129 single base substitution C T upstream_gene_variant LIRI-JP 11 1464531 1464531 single base substitution C T downstream_gene_variant LIRI-JP 11 1464531 1464531 single base substitution C T intron_variant LIRI-JP 11 1465088 1465089 deletion of <=200bp GT - downstream_gene_variant LIRI-JP 11 1465088 1465089 deletion of <=200bp GT - intron_variant LIRI-JP 11 1468153 1468153 single base substitution G C downstream_gene_variant LIRI-JP 11 1468153 1468153 single base substitution G C intron_variant LIRI-JP 11 1468153 1468153 single base substitution G C upstream_gene_variant LIRI-JP 11 1477035 1477035 single base substitution G T intron_variant LIRI-JP 11 1479060 1479066 deletion of <=200bp GGGCTGG - downstream_gene_variant LIRI-JP 11 1479060 1479066 deletion of <=200bp GGGCTGG - intron_variant LIRI-JP 11 1479195 1479195 deletion of <=200bp C - downstream_gene_variant LIRI-JP 11 1479195 1479195 deletion of <=200bp C - intron_variant LIRI-JP 11 1480520 1480520 single base substitution C T downstream_gene_variant LIRI-JP 11 1480520 1480520 single base substitution C T exon_variant LIRI-JP 11 1480520 1480520 single base substitution C T intron_variant LIRI-JP 11 1484755 1484755 single base substitution G A downstream_gene_variant LUSC-KR 11 1406371 1406371 single base substitution C T upstream_gene_variant LUSC-KR 11 1407484 1407484 single base substitution C T upstream_gene_variant LUSC-KR 11 1407584 1407584 single base substitution C A upstream_gene_variant LUSC-KR 11 1408913 1408913 single base substitution G A upstream_gene_variant LUSC-KR 11 1413835 1413835 single base substitution C T intron_variant LUSC-KR 11 1413963 1413963 single base substitution G T intron_variant LUSC-KR 11 1415386 1415386 single base substitution C T intron_variant LUSC-KR 11 1415428 1415428 single base substitution A C intron_variant LUSC-KR 11 1415771 1415771 single base substitution A G intron_variant LUSC-KR 11 1417451 1417451 single base substitution C T intron_variant LUSC-KR 11 1419358 1419358 single base substitution G T intron_variant LUSC-KR 11 1422760 1422760 single base substitution C T intron_variant LUSC-KR 11 1424861 1424861 single base substitution C A intron_variant LUSC-KR 11 1426302 1426302 single base substitution G T intron_variant LUSC-KR 11 1426302 1426302 single base substitution G T upstream_gene_variant LUSC-KR 11 1431158 1431158 single base substitution G T intron_variant LUSC-KR 11 1431158 1431158 single base substitution G T upstream_gene_variant LUSC-KR 11 1435058 1435058 single base substitution C T intron_variant LUSC-KR 11 1436343 1436343 single base substitution G T intron_variant LUSC-KR 11 1437082 1437082 single base substitution C T intron_variant LUSC-KR 11 1438848 1438848 single base substitution G T intron_variant LUSC-KR 11 1439061 1439061 single base substitution G T intron_variant LUSC-KR 11 1439345 1439345 single base substitution T G intron_variant LUSC-KR 11 1439411 1439411 single base substitution T A intron_variant LUSC-KR 11 1439586 1439586 single base substitution T G intron_variant LUSC-KR 11 1440822 1440822 single base substitution T C intron_variant LUSC-KR 11 1445071 1445071 single base substitution A G intron_variant LUSC-KR 11 1447495 1447495 single base substitution C T intron_variant LUSC-KR 11 1451279 1451279 single base substitution T C intron_variant LUSC-KR 11 1455692 1455692 single base substitution C G intron_variant LUSC-KR 11 1457301 1457301 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 11 1457301 1457301 single base substitution C T exon_variant LUSC-KR 11 1457301 1457301 single base substitution C T synonymous_variant T41T 123C>T LUSC-KR 11 1457301 1457301 single base substitution C T synonymous_variant T87T 261C>T LUSC-KR 11 1457301 1457301 single base substitution C T upstream_gene_variant LUSC-KR 11 1459413 1459413 single base substitution A T intron_variant LUSC-KR 11 1459413 1459413 single base substitution A T upstream_gene_variant LUSC-KR 11 1461840 1461840 single base substitution C A intron_variant LUSC-KR 11 1461840 1461840 single base substitution C A upstream_gene_variant LUSC-KR 11 1464388 1464388 single base substitution G T downstream_gene_variant LUSC-KR 11 1464388 1464388 single base substitution G T intron_variant LUSC-KR 11 1466720 1466720 single base substitution G A downstream_gene_variant LUSC-KR 11 1466720 1466720 single base substitution G A intron_variant LUSC-KR 11 1471805 1471805 single base substitution C A downstream_gene_variant LUSC-KR 11 1471805 1471805 single base substitution C A intron_variant LUSC-KR 11 1471805 1471805 single base substitution C A upstream_gene_variant LUSC-KR 11 1472107 1472107 single base substitution G A intron_variant LUSC-KR 11 1472107 1472107 single base substitution G A upstream_gene_variant LUSC-KR 11 1472529 1472529 single base substitution G A intron_variant LUSC-KR 11 1472529 1472529 single base substitution G A upstream_gene_variant LUSC-KR 11 1480097 1480097 single base substitution C G downstream_gene_variant LUSC-KR 11 1480097 1480097 single base substitution C G intron_variant LUSC-KR 11 1482789 1482789 single base substitution T C 3_prime_UTR_variant LUSC-KR 11 1482789 1482789 single base substitution T C downstream_gene_variant LUSC-KR 11 1482789 1482789 single base substitution T C exon_variant LUSC-US 11 1466647 1466647 single base substitution C T 3_prime_UTR_variant LUSC-US 11 1466647 1466647 single base substitution C T downstream_gene_variant LUSC-US 11 1466647 1466647 single base substitution C T exon_variant LUSC-US 11 1466647 1466647 single base substitution C T synonymous_variant F252F 756C>T LUSC-US 11 1466647 1466647 single base substitution C T synonymous_variant F312F 936C>T LUSC-US 11 1466647 1466647 single base substitution C T synonymous_variant F358F 1074C>T LUSC-US 11 1466647 1466647 single base substitution C T synonymous_variant F7F 21C>T LUSC-US 11 1467049 1467049 single base substitution C T 3_prime_UTR_variant LUSC-US 11 1467049 1467049 single base substitution C T downstream_gene_variant LUSC-US 11 1467049 1467049 single base substitution C T exon_variant LUSC-US 11 1467049 1467049 single base substitution C T missense_variant R320C 958C>T LUSC-US 11 1467049 1467049 single base substitution C T missense_variant R380C 1138C>T LUSC-US 11 1467049 1467049 single base substitution C T missense_variant R426C 1276C>T LUSC-US 11 1467049 1467049 single base substitution C T missense_variant R75C 223C>T LUSC-US 11 1467049 1467049 single base substitution C T upstream_gene_variant LUSC-US 11 1467072 1467072 single base substitution C A 3_prime_UTR_variant LUSC-US 11 1467072 1467072 single base substitution C A downstream_gene_variant LUSC-US 11 1467072 1467072 single base substitution C A exon_variant LUSC-US 11 1467072 1467072 single base substitution C A missense_variant S327R 981C>A LUSC-US 11 1467072 1467072 single base substitution C A missense_variant S387R 1161C>A LUSC-US 11 1467072 1467072 single base substitution C A missense_variant S433R 1299C>A LUSC-US 11 1467072 1467072 single base substitution C A missense_variant S82R 246C>A LUSC-US 11 1467072 1467072 single base substitution C A upstream_gene_variant MALY-DE 11 1410642 1410642 single base substitution C A upstream_gene_variant MALY-DE 11 1418508 1418508 single base substitution G A intron_variant MALY-DE 11 1430153 1430161 deletion of <=200bp GGTGTGTGT - intron_variant MALY-DE 11 1430153 1430161 deletion of <=200bp GGTGTGTGT - upstream_gene_variant MALY-DE 11 1440175 1440175 single base substitution A C intron_variant MALY-DE 11 1442846 1442846 single base substitution G A intron_variant MALY-DE 11 1445010 1445010 single base substitution G A intron_variant MALY-DE 11 1449968 1449968 single base substitution G A intron_variant MALY-DE 11 1449993 1449993 single base substitution C T intron_variant MALY-DE 11 1450270 1450270 single base substitution T A intron_variant MALY-DE 11 1455234 1455234 single base substitution T C intron_variant MALY-DE 11 1461690 1461690 single base substitution C T intron_variant MALY-DE 11 1461690 1461690 single base substitution C T upstream_gene_variant MALY-DE 11 1475606 1475606 single base substitution A G exon_variant MALY-DE 11 1475606 1475606 single base substitution A G intron_variant MALY-DE 11 1475606 1475606 single base substitution A G upstream_gene_variant MALY-DE 11 1484592 1484592 single base substitution C A downstream_gene_variant MELA-AU 11 1407166 1407166 single base substitution C T upstream_gene_variant MELA-AU 11 1407175 1407175 single base substitution A C upstream_gene_variant MELA-AU 11 1407197 1407197 single base substitution C T upstream_gene_variant MELA-AU 11 1407356 1407356 single base substitution G A upstream_gene_variant MELA-AU 11 1407829 1407829 single base substitution G A upstream_gene_variant MELA-AU 11 1407997 1407997 single base substitution C T upstream_gene_variant MELA-AU 11 1408980 1408980 single base substitution G A upstream_gene_variant MELA-AU 11 1408986 1408986 single base substitution G A upstream_gene_variant MELA-AU 11 1409151 1409151 single base substitution G A upstream_gene_variant MELA-AU 11 1409201 1409201 single base substitution G A upstream_gene_variant MELA-AU 11 1409586 1409586 single base substitution C T upstream_gene_variant MELA-AU 11 1409836 1409836 single base substitution G A upstream_gene_variant MELA-AU 11 1410395 1410395 single base substitution C T upstream_gene_variant MELA-AU 11 1411871 1411871 single base substitution G A intron_variant MELA-AU 11 1412091 1412092 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 1412265 1412265 single base substitution C T intron_variant MELA-AU 11 1412556 1412556 single base substitution G A intron_variant MELA-AU 11 1412750 1412750 single base substitution G A intron_variant MELA-AU 11 1412937 1412937 single base substitution G A intron_variant MELA-AU 11 1413423 1413423 single base substitution A C intron_variant MELA-AU 11 1413655 1413655 single base substitution C G intron_variant MELA-AU 11 1413656 1413656 single base substitution C T intron_variant MELA-AU 11 1414243 1414243 single base substitution G A intron_variant MELA-AU 11 1414330 1414330 single base substitution C T intron_variant MELA-AU 11 1414646 1414646 single base substitution G A intron_variant MELA-AU 11 1414801 1414801 single base substitution G A intron_variant MELA-AU 11 1414866 1414866 single base substitution C T intron_variant MELA-AU 11 1414886 1414886 single base substitution G A intron_variant MELA-AU 11 1415100 1415100 single base substitution G A intron_variant MELA-AU 11 1415259 1415259 single base substitution G A intron_variant MELA-AU 11 1416170 1416170 single base substitution G A intron_variant MELA-AU 11 1416863 1416863 single base substitution G C intron_variant MELA-AU 11 1417006 1417006 single base substitution C T intron_variant MELA-AU 11 1418002 1418002 single base substitution C T intron_variant MELA-AU 11 1418137 1418137 single base substitution G A intron_variant MELA-AU 11 1419690 1419690 single base substitution G C intron_variant MELA-AU 11 1419805 1419805 single base substitution C T intron_variant MELA-AU 11 1419930 1419930 single base substitution C T intron_variant MELA-AU 11 1419960 1419960 single base substitution C T intron_variant MELA-AU 11 1420028 1420028 single base substitution C T intron_variant MELA-AU 11 1420190 1420190 single base substitution C T intron_variant MELA-AU 11 1420281 1420281 single base substitution C T intron_variant MELA-AU 11 1420309 1420309 single base substitution C T intron_variant MELA-AU 11 1420694 1420694 single base substitution C T intron_variant MELA-AU 11 1421008 1421008 single base substitution C T intron_variant MELA-AU 11 1421370 1421370 single base substitution G A intron_variant MELA-AU 11 1421419 1421419 single base substitution G A intron_variant MELA-AU 11 1421457 1421457 single base substitution G A intron_variant MELA-AU 11 1421474 1421474 single base substitution C T intron_variant MELA-AU 11 1421640 1421640 single base substitution C T intron_variant MELA-AU 11 1421681 1421681 single base substitution C T intron_variant MELA-AU 11 1422049 1422049 single base substitution G A intron_variant MELA-AU 11 1422100 1422100 single base substitution C T intron_variant MELA-AU 11 1422175 1422175 single base substitution C T intron_variant MELA-AU 11 1422243 1422243 single base substitution C T intron_variant MELA-AU 11 1422359 1422359 single base substitution G A intron_variant MELA-AU 11 1422462 1422462 single base substitution T G intron_variant MELA-AU 11 1422535 1422535 single base substitution C T intron_variant MELA-AU 11 1423107 1423107 single base substitution G A intron_variant MELA-AU 11 1423276 1423276 single base substitution C T intron_variant MELA-AU 11 1423314 1423314 single base substitution G A intron_variant MELA-AU 11 1423382 1423382 single base substitution G A intron_variant MELA-AU 11 1423627 1423627 single base substitution G A intron_variant MELA-AU 11 1424211 1424211 single base substitution A G intron_variant MELA-AU 11 1424316 1424316 single base substitution G A intron_variant MELA-AU 11 1424401 1424401 single base substitution C T intron_variant MELA-AU 11 1424561 1424561 single base substitution G A intron_variant MELA-AU 11 1424717 1424717 single base substitution C T intron_variant MELA-AU 11 1424812 1424812 single base substitution G A intron_variant MELA-AU 11 1424814 1424814 single base substitution G A intron_variant MELA-AU 11 1424995 1424995 single base substitution C T intron_variant MELA-AU 11 1425075 1425075 single base substitution C T intron_variant MELA-AU 11 1425222 1425222 single base substitution T G intron_variant MELA-AU 11 1425251 1425251 single base substitution C T intron_variant MELA-AU 11 1425334 1425334 single base substitution C T intron_variant MELA-AU 11 1426184 1426184 single base substitution C T intron_variant MELA-AU 11 1426184 1426184 single base substitution C T upstream_gene_variant MELA-AU 11 1426354 1426354 single base substitution C T intron_variant MELA-AU 11 1426354 1426354 single base substitution C T upstream_gene_variant MELA-AU 11 1426370 1426371 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 1426370 1426371 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 1426465 1426465 single base substitution C T intron_variant MELA-AU 11 1426465 1426465 single base substitution C T upstream_gene_variant MELA-AU 11 1426466 1426466 single base substitution C T intron_variant MELA-AU 11 1426466 1426466 single base substitution C T upstream_gene_variant MELA-AU 11 1426786 1426786 single base substitution G A intron_variant MELA-AU 11 1426786 1426786 single base substitution G A upstream_gene_variant MELA-AU 11 1426993 1426994 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 1426993 1426994 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 1427264 1427264 single base substitution C G intron_variant MELA-AU 11 1427264 1427264 single base substitution C G upstream_gene_variant MELA-AU 11 1427301 1427301 single base substitution C T intron_variant MELA-AU 11 1427301 1427301 single base substitution C T upstream_gene_variant MELA-AU 11 1427586 1427586 single base substitution C T intron_variant MELA-AU 11 1427586 1427586 single base substitution C T upstream_gene_variant MELA-AU 11 1428189 1428189 single base substitution C T intron_variant MELA-AU 11 1428189 1428189 single base substitution C T upstream_gene_variant MELA-AU 11 1428316 1428316 single base substitution G A intron_variant MELA-AU 11 1428316 1428316 single base substitution G A upstream_gene_variant MELA-AU 11 1428587 1428587 single base substitution C T intron_variant MELA-AU 11 1428587 1428587 single base substitution C T upstream_gene_variant MELA-AU 11 1428593 1428593 single base substitution G A intron_variant MELA-AU 11 1428593 1428593 single base substitution G A upstream_gene_variant MELA-AU 11 1428604 1428604 single base substitution C T intron_variant MELA-AU 11 1428604 1428604 single base substitution C T upstream_gene_variant MELA-AU 11 1428712 1428712 single base substitution C T intron_variant MELA-AU 11 1428712 1428712 single base substitution C T upstream_gene_variant MELA-AU 11 1428847 1428848 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 1428847 1428848 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 1429084 1429084 single base substitution G A intron_variant MELA-AU 11 1429084 1429084 single base substitution G A upstream_gene_variant MELA-AU 11 1429405 1429405 single base substitution C T intron_variant MELA-AU 11 1429405 1429405 single base substitution C T upstream_gene_variant MELA-AU 11 1429703 1429703 single base substitution G A intron_variant MELA-AU 11 1429703 1429703 single base substitution G A upstream_gene_variant MELA-AU 11 1430075 1430075 single base substitution G A intron_variant MELA-AU 11 1430075 1430075 single base substitution G A upstream_gene_variant MELA-AU 11 1430353 1430353 single base substitution G A intron_variant MELA-AU 11 1430353 1430353 single base substitution G A upstream_gene_variant MELA-AU 11 1430482 1430482 single base substitution G A intron_variant MELA-AU 11 1430482 1430482 single base substitution G A upstream_gene_variant MELA-AU 11 1430594 1430594 single base substitution C T intron_variant MELA-AU 11 1430594 1430594 single base substitution C T upstream_gene_variant MELA-AU 11 1430656 1430656 single base substitution G A 5_prime_UTR_variant MELA-AU 11 1430656 1430656 single base substitution G A intron_variant MELA-AU 11 1430656 1430656 single base substitution G A upstream_gene_variant MELA-AU 11 1431452 1431452 single base substitution G T intron_variant MELA-AU 11 1431452 1431452 single base substitution G T upstream_gene_variant MELA-AU 11 1431788 1431788 single base substitution G A 5_prime_UTR_variant MELA-AU 11 1431788 1431788 single base substitution G A intron_variant MELA-AU 11 1431788 1431788 single base substitution G A upstream_gene_variant MELA-AU 11 1431872 1431873 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 11 1431872 1431873 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 1431872 1431873 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 1431969 1431969 single base substitution C T 5_prime_UTR_variant MELA-AU 11 1431969 1431969 single base substitution C T intron_variant MELA-AU 11 1431969 1431969 single base substitution C T upstream_gene_variant MELA-AU 11 1432035 1432035 single base substitution C T 5_prime_UTR_variant MELA-AU 11 1432035 1432035 single base substitution C T intron_variant MELA-AU 11 1432035 1432035 single base substitution C T upstream_gene_variant MELA-AU 11 1432186 1432186 single base substitution G A intron_variant MELA-AU 11 1432186 1432186 single base substitution G A upstream_gene_variant MELA-AU 11 1432212 1432213 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 1432212 1432213 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 1432405 1432405 single base substitution C T 5_prime_UTR_variant MELA-AU 11 1432405 1432405 single base substitution C T intron_variant MELA-AU 11 1432568 1432568 single base substitution G A 5_prime_UTR_variant MELA-AU 11 1432568 1432568 single base substitution G A intron_variant MELA-AU 11 1432693 1432693 single base substitution C T intron_variant MELA-AU 11 1432693 1432693 single base substitution C T missense_variant P20L 59C>T MELA-AU 11 1432807 1432807 single base substitution C T intron_variant MELA-AU 11 1432807 1432807 single base substitution C T missense_variant P58L 173C>T MELA-AU 11 1432895 1432895 single base substitution C T intron_variant MELA-AU 11 1432916 1432916 single base substitution C A intron_variant MELA-AU 11 1432961 1432961 single base substitution C T intron_variant MELA-AU 11 1433037 1433037 single base substitution G A intron_variant MELA-AU 11 1433147 1433147 single base substitution C T intron_variant MELA-AU 11 1434021 1434021 single base substitution C T intron_variant MELA-AU 11 1434115 1434115 single base substitution G A intron_variant MELA-AU 11 1434120 1434120 single base substitution G A intron_variant MELA-AU 11 1434247 1434247 single base substitution G A intron_variant MELA-AU 11 1434259 1434259 single base substitution C T intron_variant MELA-AU 11 1434428 1434428 single base substitution G A intron_variant MELA-AU 11 1434565 1434565 single base substitution C T intron_variant MELA-AU 11 1434669 1434669 single base substitution C T intron_variant MELA-AU 11 1434736 1434737 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 1434840 1434840 single base substitution G A intron_variant MELA-AU 11 1434880 1434880 single base substitution C T intron_variant MELA-AU 11 1434893 1434893 single base substitution C T intron_variant MELA-AU 11 1434957 1434957 single base substitution G A intron_variant MELA-AU 11 1435159 1435159 single base substitution G A intron_variant MELA-AU 11 1435213 1435213 single base substitution G A intron_variant MELA-AU 11 1435276 1435276 single base substitution C T intron_variant MELA-AU 11 1435467 1435467 single base substitution C T intron_variant MELA-AU 11 1435592 1435592 single base substitution G A intron_variant MELA-AU 11 1435690 1435690 single base substitution G A intron_variant MELA-AU 11 1435973 1435973 single base substitution T A intron_variant MELA-AU 11 1435980 1435980 single base substitution C T intron_variant MELA-AU 11 1436070 1436070 single base substitution C T intron_variant MELA-AU 11 1436160 1436160 single base substitution G A intron_variant MELA-AU 11 1436559 1436559 single base substitution C T intron_variant MELA-AU 11 1436565 1436565 single base substitution C T intron_variant MELA-AU 11 1436887 1436887 single base substitution G A intron_variant MELA-AU 11 1436946 1436946 single base substitution C T intron_variant MELA-AU 11 1436953 1436953 single base substitution A G intron_variant MELA-AU 11 1437016 1437016 single base substitution G A intron_variant MELA-AU 11 1437081 1437081 single base substitution C T intron_variant MELA-AU 11 1437095 1437095 single base substitution C T intron_variant MELA-AU 11 1437189 1437189 single base substitution C T intron_variant MELA-AU 11 1437191 1437191 single base substitution G C intron_variant MELA-AU 11 1437514 1437514 single base substitution G A intron_variant MELA-AU 11 1437558 1437558 single base substitution G A intron_variant MELA-AU 11 1437659 1437659 single base substitution C T intron_variant MELA-AU 11 1437683 1437683 single base substitution C T intron_variant MELA-AU 11 1437838 1437838 single base substitution C T intron_variant MELA-AU 11 1438010 1438010 single base substitution C T intron_variant MELA-AU 11 1438040 1438040 single base substitution C T intron_variant MELA-AU 11 1438070 1438070 single base substitution G A intron_variant MELA-AU 11 1438079 1438079 single base substitution C T intron_variant MELA-AU 11 1438119 1438119 single base substitution G A intron_variant MELA-AU 11 1438160 1438160 single base substitution G A intron_variant MELA-AU 11 1438173 1438173 single base substitution G A intron_variant MELA-AU 11 1438194 1438194 single base substitution G A intron_variant MELA-AU 11 1438316 1438316 single base substitution G A intron_variant MELA-AU 11 1438421 1438421 single base substitution C T intron_variant MELA-AU 11 1438435 1438435 single base substitution C T intron_variant MELA-AU 11 1438629 1438629 single base substitution C T intron_variant MELA-AU 11 1439023 1439023 single base substitution C T intron_variant MELA-AU 11 1439567 1439567 single base substitution C T intron_variant MELA-AU 11 1439640 1439640 single base substitution C T intron_variant MELA-AU 11 1439881 1439881 single base substitution C T intron_variant MELA-AU 11 1440066 1440066 single base substitution G C intron_variant MELA-AU 11 1440132 1440132 single base substitution C T intron_variant MELA-AU 11 1440562 1440562 single base substitution G A intron_variant MELA-AU 11 1440566 1440566 single base substitution C T intron_variant MELA-AU 11 1441090 1441090 single base substitution C T intron_variant MELA-AU 11 1441102 1441103 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 1441143 1441143 single base substitution G A intron_variant MELA-AU 11 1441349 1441349 single base substitution G A intron_variant MELA-AU 11 1441430 1441430 single base substitution G A intron_variant MELA-AU 11 1441887 1441887 single base substitution C T intron_variant MELA-AU 11 1441904 1441904 single base substitution C T intron_variant MELA-AU 11 1441925 1441925 single base substitution C T intron_variant MELA-AU 11 1442003 1442003 single base substitution T G intron_variant MELA-AU 11 1442008 1442008 single base substitution C T intron_variant MELA-AU 11 1442139 1442139 single base substitution G A intron_variant MELA-AU 11 1442164 1442164 single base substitution G C intron_variant MELA-AU 11 1442279 1442279 single base substitution G A intron_variant MELA-AU 11 1442474 1442474 single base substitution C T intron_variant MELA-AU 11 1442526 1442526 single base substitution C T intron_variant MELA-AU 11 1442821 1442821 single base substitution C T intron_variant MELA-AU 11 1442852 1442852 single base substitution G A intron_variant MELA-AU 11 1443270 1443270 single base substitution G A intron_variant MELA-AU 11 1443601 1443601 single base substitution G A intron_variant MELA-AU 11 1443613 1443613 single base substitution C T intron_variant MELA-AU 11 1444066 1444066 single base substitution G A intron_variant MELA-AU 11 1444083 1444083 single base substitution G A intron_variant MELA-AU 11 1444153 1444153 single base substitution G A intron_variant MELA-AU 11 1444226 1444227 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 1444459 1444459 single base substitution G A intron_variant MELA-AU 11 1444551 1444551 single base substitution C G intron_variant MELA-AU 11 1444551 1444551 single base substitution C T intron_variant MELA-AU 11 1444712 1444712 single base substitution G A intron_variant MELA-AU 11 1444837 1444837 single base substitution G A intron_variant MELA-AU 11 1444879 1444879 single base substitution C T intron_variant MELA-AU 11 1444886 1444886 single base substitution G A intron_variant MELA-AU 11 1445085 1445085 single base substitution C T intron_variant MELA-AU 11 1445354 1445354 single base substitution C T intron_variant MELA-AU 11 1445429 1445429 single base substitution C T intron_variant MELA-AU 11 1445513 1445513 single base substitution C T intron_variant MELA-AU 11 1445551 1445551 single base substitution G A intron_variant MELA-AU 11 1445606 1445606 single base substitution G A intron_variant MELA-AU 11 1445954 1445954 single base substitution G A intron_variant MELA-AU 11 1445968 1445968 single base substitution G A intron_variant MELA-AU 11 1446084 1446084 single base substitution C T intron_variant MELA-AU 11 1446309 1446309 single base substitution C T intron_variant MELA-AU 11 1446355 1446355 single base substitution C T intron_variant MELA-AU 11 1446529 1446529 single base substitution C G intron_variant MELA-AU 11 1446532 1446532 single base substitution C T intron_variant MELA-AU 11 1446730 1446730 single base substitution C T intron_variant MELA-AU 11 1446780 1446780 single base substitution C T intron_variant MELA-AU 11 1446807 1446807 single base substitution C T intron_variant MELA-AU 11 1446929 1446929 single base substitution C T intron_variant MELA-AU 11 1447255 1447255 single base substitution C T intron_variant MELA-AU 11 1447286 1447287 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 1447325 1447325 single base substitution G A intron_variant MELA-AU 11 1447519 1447519 single base substitution T C intron_variant MELA-AU 11 1447616 1447616 single base substitution C T intron_variant MELA-AU 11 1447656 1447656 single base substitution C T intron_variant MELA-AU 11 1447740 1447740 single base substitution C T intron_variant MELA-AU 11 1447921 1447921 single base substitution A T intron_variant MELA-AU 11 1447964 1447964 single base substitution C T intron_variant MELA-AU 11 1448130 1448130 single base substitution G A intron_variant MELA-AU 11 1448140 1448140 single base substitution G A intron_variant MELA-AU 11 1448159 1448159 single base substitution G A intron_variant MELA-AU 11 1448232 1448232 single base substitution G A intron_variant MELA-AU 11 1448515 1448515 single base substitution C T intron_variant MELA-AU 11 1449214 1449215 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 1449587 1449587 single base substitution C T intron_variant MELA-AU 11 1449625 1449625 single base substitution G A intron_variant MELA-AU 11 1449779 1449779 single base substitution G T intron_variant MELA-AU 11 1449865 1449865 single base substitution C T intron_variant MELA-AU 11 1449877 1449877 single base substitution C T intron_variant MELA-AU 11 1450666 1450666 single base substitution C A intron_variant MELA-AU 11 1454346 1454346 single base substitution T C intron_variant MELA-AU 11 1454563 1454563 single base substitution C T intron_variant MELA-AU 11 1454650 1454650 single base substitution C T intron_variant MELA-AU 11 1454773 1454773 single base substitution C T intron_variant MELA-AU 11 1454834 1454834 single base substitution C T intron_variant MELA-AU 11 1455490 1455491 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 1455612 1455612 single base substitution C T intron_variant MELA-AU 11 1455665 1455665 single base substitution C T intron_variant MELA-AU 11 1456411 1456411 single base substitution G A intron_variant MELA-AU 11 1457518 1457518 single base substitution C T intron_variant MELA-AU 11 1457518 1457518 single base substitution C T upstream_gene_variant MELA-AU 11 1457552 1457552 single base substitution C T intron_variant MELA-AU 11 1457552 1457552 single base substitution C T upstream_gene_variant MELA-AU 11 1458024 1458024 single base substitution C T intron_variant MELA-AU 11 1458024 1458024 single base substitution C T upstream_gene_variant MELA-AU 11 1458329 1458329 single base substitution C T intron_variant MELA-AU 11 1458329 1458329 single base substitution C T upstream_gene_variant MELA-AU 11 1458427 1458427 single base substitution G A intron_variant MELA-AU 11 1458427 1458427 single base substitution G A upstream_gene_variant MELA-AU 11 1459382 1459382 single base substitution T A intron_variant MELA-AU 11 1459382 1459382 single base substitution T A upstream_gene_variant MELA-AU 11 1459708 1459708 single base substitution G A intron_variant MELA-AU 11 1459708 1459708 single base substitution G A upstream_gene_variant MELA-AU 11 1459923 1459923 single base substitution G A intron_variant MELA-AU 11 1459923 1459923 single base substitution G A upstream_gene_variant MELA-AU 11 1460167 1460167 single base substitution C T intron_variant MELA-AU 11 1460167 1460167 single base substitution C T upstream_gene_variant MELA-AU 11 1461393 1461393 single base substitution G A intron_variant MELA-AU 11 1461393 1461393 single base substitution G A upstream_gene_variant MELA-AU 11 1461432 1461448 deletion of <=200bp GTGGCTGAGACCCCACG - intron_variant MELA-AU 11 1461432 1461448 deletion of <=200bp GTGGCTGAGACCCCACG - upstream_gene_variant MELA-AU 11 1461504 1461504 single base substitution C T intron_variant MELA-AU 11 1461504 1461504 single base substitution C T upstream_gene_variant MELA-AU 11 1461516 1461516 single base substitution C T intron_variant MELA-AU 11 1461516 1461516 single base substitution C T upstream_gene_variant MELA-AU 11 1461753 1461753 single base substitution C T intron_variant MELA-AU 11 1461753 1461753 single base substitution C T upstream_gene_variant MELA-AU 11 1461799 1461799 single base substitution C T intron_variant MELA-AU 11 1461799 1461799 single base substitution C T upstream_gene_variant MELA-AU 11 1461959 1461959 single base substitution G A intron_variant MELA-AU 11 1461959 1461959 single base substitution G A upstream_gene_variant MELA-AU 11 1463328 1463328 single base substitution G A intron_variant MELA-AU 11 1463328 1463328 single base substitution G A upstream_gene_variant MELA-AU 11 1463375 1463375 single base substitution C T intron_variant MELA-AU 11 1463375 1463375 single base substitution C T upstream_gene_variant MELA-AU 11 1463385 1463385 single base substitution G A intron_variant MELA-AU 11 1463385 1463385 single base substitution G A upstream_gene_variant MELA-AU 11 1463891 1463891 single base substitution G A downstream_gene_variant MELA-AU 11 1463891 1463891 single base substitution G A intron_variant MELA-AU 11 1464067 1464067 single base substitution G A downstream_gene_variant MELA-AU 11 1464067 1464067 single base substitution G A intron_variant MELA-AU 11 1464075 1464075 single base substitution G A downstream_gene_variant MELA-AU 11 1464075 1464075 single base substitution G A intron_variant MELA-AU 11 1464356 1464356 single base substitution C T 5_prime_UTR_variant MELA-AU 11 1464356 1464356 single base substitution C T downstream_gene_variant MELA-AU 11 1464356 1464356 single base substitution C T exon_variant MELA-AU 11 1464356 1464356 single base substitution C T missense_variant P124L 371C>T MELA-AU 11 1464356 1464356 single base substitution C T missense_variant P184L 551C>T MELA-AU 11 1464356 1464356 single base substitution C T missense_variant P230L 689C>T MELA-AU 11 1464587 1464587 single base substitution A G 5_prime_UTR_variant MELA-AU 11 1464587 1464587 single base substitution A G downstream_gene_variant MELA-AU 11 1464587 1464587 single base substitution A G exon_variant MELA-AU 11 1464587 1464587 single base substitution A G missense_variant K136R 407A>G MELA-AU 11 1464587 1464587 single base substitution A G missense_variant K196R 587A>G MELA-AU 11 1464587 1464587 single base substitution A G missense_variant K242R 725A>G MELA-AU 11 1464769 1464769 single base substitution G A 5_prime_UTR_variant MELA-AU 11 1464769 1464769 single base substitution G A downstream_gene_variant MELA-AU 11 1464769 1464769 single base substitution G A exon_variant MELA-AU 11 1464769 1464769 single base substitution G A synonymous_variant V168V 504G>A MELA-AU 11 1464769 1464769 single base substitution G A synonymous_variant V228V 684G>A MELA-AU 11 1464769 1464769 single base substitution G A synonymous_variant V274V 822G>A MELA-AU 11 1465071 1465071 single base substitution C A downstream_gene_variant MELA-AU 11 1465071 1465071 single base substitution C A intron_variant MELA-AU 11 1465130 1465130 single base substitution G A downstream_gene_variant MELA-AU 11 1465130 1465130 single base substitution G A intron_variant MELA-AU 11 1465135 1465135 single base substitution C T downstream_gene_variant MELA-AU 11 1465135 1465135 single base substitution C T intron_variant MELA-AU 11 1465515 1465515 single base substitution C T downstream_gene_variant MELA-AU 11 1465515 1465515 single base substitution C T intron_variant MELA-AU 11 1465654 1465654 single base substitution C T downstream_gene_variant MELA-AU 11 1465654 1465654 single base substitution C T intron_variant MELA-AU 11 1465897 1465897 single base substitution C T downstream_gene_variant MELA-AU 11 1465897 1465897 single base substitution C T intron_variant MELA-AU 11 1466189 1466189 single base substitution C T downstream_gene_variant MELA-AU 11 1466189 1466189 single base substitution C T intron_variant MELA-AU 11 1466974 1466974 single base substitution C T downstream_gene_variant MELA-AU 11 1466974 1466974 single base substitution C T intron_variant MELA-AU 11 1466974 1466974 single base substitution C T upstream_gene_variant MELA-AU 11 1467057 1467057 single base substitution C T 3_prime_UTR_variant MELA-AU 11 1467057 1467057 single base substitution C T downstream_gene_variant MELA-AU 11 1467057 1467057 single base substitution C T exon_variant MELA-AU 11 1467057 1467057 single base substitution C T synonymous_variant S322S 966C>T MELA-AU 11 1467057 1467057 single base substitution C T synonymous_variant S382S 1146C>T MELA-AU 11 1467057 1467057 single base substitution C T synonymous_variant S428S 1284C>T MELA-AU 11 1467057 1467057 single base substitution C T synonymous_variant S77S 231C>T MELA-AU 11 1467057 1467057 single base substitution C T upstream_gene_variant MELA-AU 11 1467757 1467757 single base substitution C T downstream_gene_variant MELA-AU 11 1467757 1467757 single base substitution C T intron_variant MELA-AU 11 1467757 1467757 single base substitution C T upstream_gene_variant MELA-AU 11 1468171 1468171 single base substitution G A downstream_gene_variant MELA-AU 11 1468171 1468171 single base substitution G A intron_variant MELA-AU 11 1468171 1468171 single base substitution G A upstream_gene_variant MELA-AU 11 1469230 1469230 single base substitution G A downstream_gene_variant MELA-AU 11 1469230 1469230 single base substitution G A intron_variant MELA-AU 11 1469230 1469230 single base substitution G A upstream_gene_variant MELA-AU 11 1469603 1469603 single base substitution C T downstream_gene_variant MELA-AU 11 1469603 1469603 single base substitution C T intron_variant MELA-AU 11 1469603 1469603 single base substitution C T upstream_gene_variant MELA-AU 11 1469781 1469781 single base substitution G A downstream_gene_variant MELA-AU 11 1469781 1469781 single base substitution G A intron_variant MELA-AU 11 1469781 1469781 single base substitution G A upstream_gene_variant MELA-AU 11 1469807 1469807 single base substitution C T downstream_gene_variant MELA-AU 11 1469807 1469807 single base substitution C T intron_variant MELA-AU 11 1469807 1469807 single base substitution C T upstream_gene_variant MELA-AU 11 1470108 1470108 single base substitution G A downstream_gene_variant MELA-AU 11 1470108 1470108 single base substitution G A intron_variant MELA-AU 11 1470108 1470108 single base substitution G A upstream_gene_variant MELA-AU 11 1470248 1470248 single base substitution C T downstream_gene_variant MELA-AU 11 1470248 1470248 single base substitution C T intron_variant MELA-AU 11 1470248 1470248 single base substitution C T upstream_gene_variant MELA-AU 11 1470400 1470400 single base substitution C T downstream_gene_variant MELA-AU 11 1470400 1470400 single base substitution C T intron_variant MELA-AU 11 1470400 1470400 single base substitution C T upstream_gene_variant MELA-AU 11 1470457 1470458 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 11 1470457 1470458 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 11 1470457 1470458 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 11 1470899 1470899 single base substitution C A downstream_gene_variant MELA-AU 11 1470899 1470899 single base substitution C A intron_variant MELA-AU 11 1470899 1470899 single base substitution C A upstream_gene_variant MELA-AU 11 1470920 1470921 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 1470920 1470921 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 1470920 1470921 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 1471778 1471778 single base substitution G T downstream_gene_variant MELA-AU 11 1471778 1471778 single base substitution G T intron_variant MELA-AU 11 1471778 1471778 single base substitution G T upstream_gene_variant MELA-AU 11 1472061 1472061 single base substitution G A intron_variant MELA-AU 11 1472061 1472061 single base substitution G A upstream_gene_variant MELA-AU 11 1472293 1472293 single base substitution C T intron_variant MELA-AU 11 1472293 1472293 single base substitution C T upstream_gene_variant MELA-AU 11 1472788 1472788 single base substitution G A intron_variant MELA-AU 11 1472788 1472788 single base substitution G A upstream_gene_variant MELA-AU 11 1472820 1472820 single base substitution C T intron_variant MELA-AU 11 1472820 1472820 single base substitution C T upstream_gene_variant MELA-AU 11 1473032 1473032 single base substitution G A intron_variant MELA-AU 11 1473032 1473032 single base substitution G A upstream_gene_variant MELA-AU 11 1473337 1473337 single base substitution G A intron_variant MELA-AU 11 1473337 1473337 single base substitution G A upstream_gene_variant MELA-AU 11 1473408 1473408 single base substitution G A intron_variant MELA-AU 11 1473408 1473408 single base substitution G A upstream_gene_variant MELA-AU 11 1474160 1474161 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 11 1474160 1474161 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 11 1474605 1474605 single base substitution C T intron_variant MELA-AU 11 1474605 1474605 single base substitution C T upstream_gene_variant MELA-AU 11 1475389 1475389 insertion of <=200bp - GGGGGGCTCACCTGT exon_variant MELA-AU 11 1475389 1475389 insertion of <=200bp - GGGGGGCTCACCTGT intron_variant MELA-AU 11 1475389 1475389 insertion of <=200bp - GGGGGGCTCACCTGT upstream_gene_variant MELA-AU 11 1475729 1475729 single base substitution C T 3_prime_UTR_variant MELA-AU 11 1475729 1475729 single base substitution C T exon_variant MELA-AU 11 1475729 1475729 single base substitution C T missense_variant S215F 644C>T MELA-AU 11 1475729 1475729 single base substitution C T missense_variant S460F 1379C>T MELA-AU 11 1475729 1475729 single base substitution C T missense_variant S520F 1559C>T MELA-AU 11 1475729 1475729 single base substitution C T missense_variant S542F 1625C>T MELA-AU 11 1475729 1475729 single base substitution C T missense_variant S566F 1697C>T MELA-AU 11 1475729 1475729 single base substitution C T missense_variant S58F 173C>T MELA-AU 11 1475760 1475760 single base substitution G A 3_prime_UTR_variant MELA-AU 11 1475760 1475760 single base substitution G A exon_variant MELA-AU 11 1475760 1475760 single base substitution G A synonymous_variant K225K 675G>A MELA-AU 11 1475760 1475760 single base substitution G A synonymous_variant K470K 1410G>A MELA-AU 11 1475760 1475760 single base substitution G A synonymous_variant K530K 1590G>A MELA-AU 11 1475760 1475760 single base substitution G A synonymous_variant K552K 1656G>A MELA-AU 11 1475760 1475760 single base substitution G A synonymous_variant K576K 1728G>A MELA-AU 11 1475760 1475760 single base substitution G A synonymous_variant K68K 204G>A MELA-AU 11 1477444 1477444 single base substitution C G intron_variant MELA-AU 11 1477698 1477698 single base substitution G A 3_prime_UTR_variant MELA-AU 11 1477698 1477698 single base substitution G A exon_variant MELA-AU 11 1477698 1477698 single base substitution G A missense_variant E135K 403G>A MELA-AU 11 1477698 1477698 single base substitution G A missense_variant E292K 874G>A MELA-AU 11 1477698 1477698 single base substitution G A missense_variant E537K 1609G>A MELA-AU 11 1477698 1477698 single base substitution G A missense_variant E597K 1789G>A MELA-AU 11 1477698 1477698 single base substitution G A missense_variant E619K 1855G>A MELA-AU 11 1477698 1477698 single base substitution G A missense_variant E643K 1927G>A MELA-AU 11 1478180 1478180 single base substitution C T intron_variant MELA-AU 11 1478180 1478180 single base substitution C T splice_region_variant MELA-AU 11 1478321 1478321 single base substitution G A downstream_gene_variant MELA-AU 11 1478321 1478321 single base substitution G A intron_variant MELA-AU 11 1478644 1478644 single base substitution G A downstream_gene_variant MELA-AU 11 1478644 1478644 single base substitution G A intron_variant MELA-AU 11 1479173 1479173 single base substitution G A downstream_gene_variant MELA-AU 11 1479173 1479173 single base substitution G A intron_variant MELA-AU 11 1480668 1480668 single base substitution G A downstream_gene_variant MELA-AU 11 1480668 1480668 single base substitution G A exon_variant MELA-AU 11 1480668 1480668 single base substitution G A intron_variant MELA-AU 11 1480719 1480719 single base substitution C T downstream_gene_variant MELA-AU 11 1480719 1480719 single base substitution C T intron_variant MELA-AU 11 1481033 1481033 single base substitution C T downstream_gene_variant MELA-AU 11 1481033 1481033 single base substitution C T intron_variant MELA-AU 11 1481185 1481185 single base substitution C T downstream_gene_variant MELA-AU 11 1481185 1481185 single base substitution C T intron_variant MELA-AU 11 1481809 1481809 single base substitution C T downstream_gene_variant MELA-AU 11 1481809 1481809 single base substitution C T intron_variant MELA-AU 11 1481809 1481809 single base substitution C T synonymous_variant P689P 2067C>T MELA-AU 11 1481809 1481809 single base substitution C T synonymous_variant P719P 2157C>T MELA-AU 11 1482044 1482044 single base substitution C A 3_prime_UTR_variant MELA-AU 11 1482044 1482044 single base substitution C A downstream_gene_variant MELA-AU 11 1482044 1482044 single base substitution C A intron_variant MELA-AU 11 1482080 1482080 single base substitution G A 3_prime_UTR_variant MELA-AU 11 1482080 1482080 single base substitution G A downstream_gene_variant MELA-AU 11 1482080 1482080 single base substitution G A intron_variant MELA-AU 11 1482374 1482374 single base substitution G A 3_prime_UTR_variant MELA-AU 11 1482374 1482374 single base substitution G A downstream_gene_variant MELA-AU 11 1482374 1482374 single base substitution G A exon_variant MELA-AU 11 1482906 1482906 single base substitution G A 3_prime_UTR_variant MELA-AU 11 1482906 1482906 single base substitution G A downstream_gene_variant MELA-AU 11 1482906 1482906 single base substitution G A exon_variant MELA-AU 11 1483090 1483090 single base substitution G A 3_prime_UTR_variant MELA-AU 11 1483090 1483090 single base substitution G A downstream_gene_variant MELA-AU 11 1483351 1483351 single base substitution G A 3_prime_UTR_variant MELA-AU 11 1483351 1483351 single base substitution G A downstream_gene_variant MELA-AU 11 1483905 1483905 single base substitution C T 3_prime_UTR_variant MELA-AU 11 1483905 1483905 single base substitution C T downstream_gene_variant MELA-AU 11 1484345 1484345 single base substitution G A downstream_gene_variant MELA-AU 11 1484768 1484768 single base substitution G A downstream_gene_variant MELA-AU 11 1484771 1484771 single base substitution A C downstream_gene_variant MELA-AU 11 1484786 1484786 single base substitution G A downstream_gene_variant MELA-AU 11 1485288 1485288 single base substitution G A downstream_gene_variant MELA-AU 11 1485300 1485300 single base substitution G A downstream_gene_variant MELA-AU 11 1485525 1485525 single base substitution C T downstream_gene_variant MELA-AU 11 1485725 1485725 single base substitution A C downstream_gene_variant MELA-AU 11 1485730 1485730 single base substitution G A downstream_gene_variant MELA-AU 11 1485952 1485952 single base substitution G A downstream_gene_variant MELA-AU 11 1486773 1486773 single base substitution C T downstream_gene_variant MELA-AU 11 1486865 1486865 single base substitution G A downstream_gene_variant MELA-AU 11 1487079 1487079 single base substitution G A downstream_gene_variant MELA-AU 11 1487242 1487242 single base substitution G A downstream_gene_variant MELA-AU 11 1487619 1487619 single base substitution T G downstream_gene_variant MELA-AU 11 1488108 1488108 single base substitution A G downstream_gene_variant MELA-AU 11 1488236 1488236 single base substitution C T downstream_gene_variant MELA-AU 11 1488287 1488287 single base substitution G A downstream_gene_variant MELA-AU 11 1488577 1488577 single base substitution A G downstream_gene_variant MELA-AU 11 1488869 1488869 single base substitution G A downstream_gene_variant ORCA-IN 11 1407975 1407975 deletion of <=200bp T - upstream_gene_variant ORCA-IN 11 1415046 1415046 single base substitution G C intron_variant ORCA-IN 11 1442717 1442717 single base substitution G A intron_variant ORCA-IN 11 1449403 1449403 single base substitution G A intron_variant ORCA-IN 11 1455718 1455718 single base substitution G A intron_variant ORCA-IN 11 1464727 1464727 single base substitution G T 5_prime_UTR_variant ORCA-IN 11 1464727 1464727 single base substitution G T downstream_gene_variant ORCA-IN 11 1464727 1464727 single base substitution G T exon_variant ORCA-IN 11 1464727 1464727 single base substitution G T synonymous_variant L154L 462G>T ORCA-IN 11 1464727 1464727 single base substitution G T synonymous_variant L214L 642G>T ORCA-IN 11 1464727 1464727 single base substitution G T synonymous_variant L260L 780G>T ORCA-IN 11 1473989 1473989 single base substitution G C intron_variant ORCA-IN 11 1473989 1473989 single base substitution G C upstream_gene_variant ORCA-IN 11 1477692 1477692 single base substitution T A 3_prime_UTR_variant ORCA-IN 11 1477692 1477692 single base substitution T A exon_variant ORCA-IN 11 1477692 1477692 single base substitution T A missense_variant Y133N 397T>A ORCA-IN 11 1477692 1477692 single base substitution T A missense_variant Y290N 868T>A ORCA-IN 11 1477692 1477692 single base substitution T A missense_variant Y535N 1603T>A ORCA-IN 11 1477692 1477692 single base substitution T A missense_variant Y595N 1783T>A ORCA-IN 11 1477692 1477692 single base substitution T A missense_variant Y617N 1849T>A ORCA-IN 11 1477692 1477692 single base substitution T A missense_variant Y641N 1921T>A ORCA-IN 11 1479496 1479496 single base substitution C G downstream_gene_variant ORCA-IN 11 1479496 1479496 single base substitution C G intron_variant ORCA-IN 11 1482622 1482622 single base substitution C G 3_prime_UTR_variant ORCA-IN 11 1482622 1482622 single base substitution C G downstream_gene_variant ORCA-IN 11 1482622 1482622 single base substitution C G exon_variant OV-AU 11 1411981 1411981 single base substitution T G intron_variant OV-AU 11 1415479 1415479 single base substitution T C intron_variant OV-AU 11 1421589 1421589 single base substitution G A intron_variant OV-AU 11 1429413 1429413 single base substitution C A intron_variant OV-AU 11 1429413 1429413 single base substitution C A upstream_gene_variant OV-AU 11 1432986 1432986 single base substitution G T intron_variant OV-AU 11 1436809 1436809 single base substitution T G intron_variant OV-AU 11 1437075 1437075 single base substitution C T intron_variant OV-AU 11 1438108 1438108 single base substitution C A intron_variant OV-AU 11 1439882 1439882 single base substitution T G intron_variant OV-AU 11 1441906 1441906 single base substitution T A intron_variant OV-AU 11 1444564 1444564 single base substitution A G intron_variant OV-AU 11 1445111 1445111 single base substitution A C intron_variant OV-AU 11 1445507 1445507 single base substitution G T intron_variant OV-AU 11 1448001 1448001 single base substitution G A intron_variant OV-AU 11 1450738 1450738 single base substitution T C intron_variant OV-AU 11 1455239 1455239 single base substitution G C intron_variant OV-AU 11 1459609 1459609 single base substitution A G exon_variant OV-AU 11 1459609 1459609 single base substitution A G missense_variant N133S 398A>G OV-AU 11 1459609 1459609 single base substitution A G missense_variant N27S 80A>G OV-AU 11 1459609 1459609 single base substitution A G missense_variant N87S 260A>G OV-AU 11 1459609 1459609 single base substitution A G upstream_gene_variant OV-AU 11 1467858 1467858 single base substitution C T downstream_gene_variant OV-AU 11 1467858 1467858 single base substitution C T intron_variant OV-AU 11 1467858 1467858 single base substitution C T upstream_gene_variant OV-AU 11 1471140 1471140 single base substitution T G downstream_gene_variant OV-AU 11 1471140 1471140 single base substitution T G intron_variant OV-AU 11 1471140 1471140 single base substitution T G upstream_gene_variant OV-AU 11 1471203 1471203 single base substitution G T downstream_gene_variant OV-AU 11 1471203 1471203 single base substitution G T intron_variant OV-AU 11 1471203 1471203 single base substitution G T upstream_gene_variant OV-AU 11 1480883 1480883 single base substitution C G downstream_gene_variant OV-AU 11 1480883 1480883 single base substitution C G intron_variant OV-AU 11 1480887 1480887 single base substitution G T downstream_gene_variant OV-AU 11 1480887 1480887 single base substitution G T intron_variant OV-AU 11 1488583 1488583 single base substitution C T downstream_gene_variant PACA-AU 11 1413254 1413254 deletion of <=200bp G - intron_variant PACA-AU 11 1414790 1414790 single base substitution C T intron_variant PACA-AU 11 1415362 1415362 single base substitution C A intron_variant PACA-AU 11 1416764 1416764 single base substitution C T intron_variant PACA-AU 11 1420150 1420150 single base substitution C T intron_variant PACA-AU 11 1421457 1421457 single base substitution G C intron_variant PACA-AU 11 1422063 1422063 single base substitution G A intron_variant PACA-AU 11 1425208 1425208 single base substitution G A intron_variant PACA-AU 11 1427984 1427984 single base substitution C T intron_variant PACA-AU 11 1427984 1427984 single base substitution C T upstream_gene_variant PACA-AU 11 1435518 1435518 single base substitution G A intron_variant PACA-AU 11 1442586 1442586 single base substitution G A intron_variant PACA-AU 11 1444765 1444765 single base substitution T C intron_variant PACA-AU 11 1449403 1449403 single base substitution G A intron_variant PACA-AU 11 1461576 1461576 single base substitution G A intron_variant PACA-AU 11 1461576 1461576 single base substitution G A upstream_gene_variant PACA-AU 11 1461974 1461974 single base substitution C T intron_variant PACA-AU 11 1461974 1461974 single base substitution C T upstream_gene_variant PACA-AU 11 1461995 1461995 single base substitution A T intron_variant PACA-AU 11 1461995 1461995 single base substitution A T upstream_gene_variant PACA-AU 11 1463369 1463369 single base substitution C T intron_variant PACA-AU 11 1463369 1463369 single base substitution C T upstream_gene_variant PACA-AU 11 1467888 1467888 single base substitution C A downstream_gene_variant PACA-AU 11 1467888 1467888 single base substitution C A intron_variant PACA-AU 11 1467888 1467888 single base substitution C A upstream_gene_variant PACA-AU 11 1468393 1468393 single base substitution C T downstream_gene_variant PACA-AU 11 1468393 1468393 single base substitution C T intron_variant PACA-AU 11 1468393 1468393 single base substitution C T upstream_gene_variant PACA-AU 11 1468806 1468806 single base substitution G T downstream_gene_variant PACA-AU 11 1468806 1468806 single base substitution G T intron_variant PACA-AU 11 1468806 1468806 single base substitution G T upstream_gene_variant PACA-AU 11 1469215 1469215 single base substitution G T downstream_gene_variant PACA-AU 11 1469215 1469215 single base substitution G T intron_variant PACA-AU 11 1469215 1469215 single base substitution G T upstream_gene_variant PACA-AU 11 1473716 1473716 single base substitution T A intron_variant PACA-AU 11 1473716 1473716 single base substitution T A upstream_gene_variant PACA-AU 11 1478149 1478149 single base substitution C T intron_variant PACA-AU 11 1478224 1478224 single base substitution G A 3_prime_UTR_variant PACA-AU 11 1478224 1478224 single base substitution G A exon_variant PACA-AU 11 1478224 1478224 single base substitution G A intron_variant PACA-AU 11 1478224 1478224 single base substitution G A missense_variant G355E 1064G>A PACA-AU 11 1478224 1478224 single base substitution G A missense_variant G600E 1799G>A PACA-AU 11 1478224 1478224 single base substitution G A missense_variant G660E 1979G>A PACA-AU 11 1478224 1478224 single base substitution G A missense_variant G682E 2045G>A PACA-AU 11 1479060 1479066 deletion of <=200bp GGGCTGG - downstream_gene_variant PACA-AU 11 1479060 1479066 deletion of <=200bp GGGCTGG - intron_variant PACA-AU 11 1479915 1479915 single base substitution G A downstream_gene_variant PACA-AU 11 1479915 1479915 single base substitution G A intron_variant PACA-AU 11 1482053 1482053 single base substitution G A 3_prime_UTR_variant PACA-AU 11 1482053 1482053 single base substitution G A downstream_gene_variant PACA-AU 11 1482053 1482053 single base substitution G A intron_variant PACA-AU 11 1483244 1483244 single base substitution G T 3_prime_UTR_variant PACA-AU 11 1483244 1483244 single base substitution G T downstream_gene_variant PACA-CA 11 1406653 1406653 single base substitution G C upstream_gene_variant PACA-CA 11 1408880 1408880 single base substitution G T upstream_gene_variant PACA-CA 11 1415309 1415309 single base substitution A C intron_variant PACA-CA 11 1415918 1415918 single base substitution G A intron_variant PACA-CA 11 1416189 1416189 single base substitution C T intron_variant PACA-CA 11 1416340 1416340 single base substitution G A intron_variant PACA-CA 11 1416943 1416943 single base substitution C T intron_variant PACA-CA 11 1419430 1419430 single base substitution A G intron_variant PACA-CA 11 1421290 1421290 single base substitution C G intron_variant PACA-CA 11 1423060 1423060 insertion of <=200bp - C intron_variant PACA-CA 11 1423431 1423431 single base substitution C T intron_variant PACA-CA 11 1427815 1427815 single base substitution C T intron_variant PACA-CA 11 1427815 1427815 single base substitution C T upstream_gene_variant PACA-CA 11 1428640 1428640 single base substitution A T intron_variant PACA-CA 11 1428640 1428640 single base substitution A T upstream_gene_variant PACA-CA 11 1428856 1428856 single base substitution C T intron_variant PACA-CA 11 1428856 1428856 single base substitution C T upstream_gene_variant PACA-CA 11 1431108 1431108 single base substitution C T intron_variant PACA-CA 11 1431108 1431108 single base substitution C T upstream_gene_variant PACA-CA 11 1433103 1433103 single base substitution T C intron_variant PACA-CA 11 1434466 1434466 single base substitution G A intron_variant PACA-CA 11 1436571 1436571 single base substitution G A intron_variant PACA-CA 11 1438412 1438412 single base substitution G A intron_variant PACA-CA 11 1439160 1439160 single base substitution A T intron_variant PACA-CA 11 1439254 1439254 single base substitution A T intron_variant PACA-CA 11 1439440 1439440 single base substitution G T intron_variant PACA-CA 11 1439966 1439966 single base substitution C T intron_variant PACA-CA 11 1440878 1440878 single base substitution C T intron_variant PACA-CA 11 1443063 1443063 single base substitution T G intron_variant PACA-CA 11 1445521 1445521 single base substitution G A intron_variant PACA-CA 11 1445637 1445637 single base substitution G A intron_variant PACA-CA 11 1445680 1445680 single base substitution T A intron_variant PACA-CA 11 1446378 1446378 single base substitution G A intron_variant PACA-CA 11 1446908 1446908 single base substitution G A intron_variant PACA-CA 11 1447311 1447311 single base substitution G A intron_variant PACA-CA 11 1450771 1450771 single base substitution C T intron_variant PACA-CA 11 1458987 1458987 single base substitution C T intron_variant PACA-CA 11 1458987 1458987 single base substitution C T upstream_gene_variant PACA-CA 11 1460649 1460649 single base substitution C T intron_variant PACA-CA 11 1460649 1460649 single base substitution C T upstream_gene_variant PACA-CA 11 1461454 1461454 single base substitution G A intron_variant PACA-CA 11 1461454 1461454 single base substitution G A upstream_gene_variant PACA-CA 11 1464807 1464807 single base substitution C A 5_prime_UTR_variant PACA-CA 11 1464807 1464807 single base substitution C A downstream_gene_variant PACA-CA 11 1464807 1464807 single base substitution C A exon_variant PACA-CA 11 1464807 1464807 single base substitution C A missense_variant P181H 542C>A PACA-CA 11 1464807 1464807 single base substitution C A missense_variant P241H 722C>A PACA-CA 11 1464807 1464807 single base substitution C A missense_variant P287H 860C>A PACA-CA 11 1465238 1465238 single base substitution G T downstream_gene_variant PACA-CA 11 1465238 1465238 single base substitution G T intron_variant PACA-CA 11 1466545 1466545 single base substitution A T 3_prime_UTR_variant PACA-CA 11 1466545 1466545 single base substitution A T 5_prime_UTR_variant PACA-CA 11 1466545 1466545 single base substitution A T downstream_gene_variant PACA-CA 11 1466545 1466545 single base substitution A T exon_variant PACA-CA 11 1466545 1466545 single base substitution A T missense_variant E218D 654A>T PACA-CA 11 1466545 1466545 single base substitution A T missense_variant E278D 834A>T PACA-CA 11 1466545 1466545 single base substitution A T missense_variant E324D 972A>T PACA-CA 11 1471805 1471805 single base substitution C A downstream_gene_variant PACA-CA 11 1471805 1471805 single base substitution C A intron_variant PACA-CA 11 1471805 1471805 single base substitution C A upstream_gene_variant PACA-CA 11 1472001 1472001 single base substitution G A 3_prime_UTR_variant PACA-CA 11 1472001 1472001 single base substitution G A exon_variant PACA-CA 11 1472001 1472001 single base substitution G A missense_variant R186H 557G>A PACA-CA 11 1472001 1472001 single base substitution G A missense_variant R29H 86G>A PACA-CA 11 1472001 1472001 single base substitution G A missense_variant R431H 1292G>A PACA-CA 11 1472001 1472001 single base substitution G A missense_variant R491H 1472G>A PACA-CA 11 1472001 1472001 single base substitution G A missense_variant R513H 1538G>A PACA-CA 11 1472001 1472001 single base substitution G A missense_variant R537H 1610G>A PACA-CA 11 1472001 1472001 single base substitution G A upstream_gene_variant PACA-CA 11 1473365 1473365 single base substitution C G intron_variant PACA-CA 11 1473365 1473365 single base substitution C G upstream_gene_variant PACA-CA 11 1475838 1475838 single base substitution G A splice_region_variant PACA-CA 11 1477153 1477153 single base substitution G C intron_variant PACA-CA 11 1478607 1478607 single base substitution C T downstream_gene_variant PACA-CA 11 1478607 1478607 single base substitution C T intron_variant PACA-CA 11 1480166 1480166 single base substitution C A downstream_gene_variant PACA-CA 11 1480166 1480166 single base substitution C A intron_variant PACA-CA 11 1483805 1483805 single base substitution G A 3_prime_UTR_variant PACA-CA 11 1483805 1483805 single base substitution G A downstream_gene_variant PACA-CA 11 1486017 1486017 single base substitution G C downstream_gene_variant PACA-CA 11 1486693 1486693 single base substitution G A downstream_gene_variant PAEN-AU 11 1432183 1432183 single base substitution T G intron_variant PAEN-AU 11 1432183 1432183 single base substitution T G upstream_gene_variant PAEN-IT 11 1427043 1427043 single base substitution C A intron_variant PAEN-IT 11 1427043 1427043 single base substitution C A upstream_gene_variant PAEN-IT 11 1436323 1436323 single base substitution C T intron_variant PBCA-DE 11 1409900 1409900 single base substitution G A upstream_gene_variant PBCA-DE 11 1413954 1413954 single base substitution G T intron_variant PBCA-DE 11 1426243 1426243 insertion of <=200bp - TA intron_variant PBCA-DE 11 1426243 1426243 insertion of <=200bp - TA upstream_gene_variant PBCA-DE 11 1427802 1427802 single base substitution C A intron_variant PBCA-DE 11 1427802 1427802 single base substitution C A upstream_gene_variant PBCA-DE 11 1430426 1430426 single base substitution T C intron_variant PBCA-DE 11 1430426 1430426 single base substitution T C upstream_gene_variant PBCA-DE 11 1433734 1433734 single base substitution A G intron_variant PBCA-DE 11 1433736 1433736 single base substitution T G intron_variant PBCA-DE 11 1439530 1439531 deletion of <=200bp TC - intron_variant PBCA-DE 11 1458708 1458708 deletion of <=200bp C - intron_variant PBCA-DE 11 1458708 1458708 deletion of <=200bp C - upstream_gene_variant PBCA-DE 11 1463240 1463240 single base substitution T A intron_variant PBCA-DE 11 1463240 1463240 single base substitution T A upstream_gene_variant PBCA-DE 11 1463241 1463241 single base substitution C A intron_variant PBCA-DE 11 1463241 1463241 single base substitution C A upstream_gene_variant PBCA-DE 11 1463242 1463242 single base substitution T C intron_variant PBCA-DE 11 1463242 1463242 single base substitution T C upstream_gene_variant PBCA-DE 11 1463771 1463771 deletion of <=200bp C - 5_prime_UTR_variant PBCA-DE 11 1463771 1463771 deletion of <=200bp C - downstream_gene_variant PBCA-DE 11 1463771 1463771 deletion of <=200bp C - exon_variant PBCA-DE 11 1463771 1463771 deletion of <=200bp C - frameshift_variant I155 PBCA-DE 11 1463771 1463771 deletion of <=200bp C - frameshift_variant I201 PBCA-DE 11 1463771 1463771 deletion of <=200bp C - frameshift_variant I95 PBCA-DE 11 1475389 1475389 insertion of <=200bp - GGGGGGCTCACCTGT exon_variant PBCA-DE 11 1475389 1475389 insertion of <=200bp - GGGGGGCTCACCTGT intron_variant PBCA-DE 11 1475389 1475389 insertion of <=200bp - GGGGGGCTCACCTGT upstream_gene_variant PBCA-DE 11 1477008 1477008 single base substitution T C intron_variant PBCA-DE 11 1480214 1480214 single base substitution G A downstream_gene_variant PBCA-DE 11 1480214 1480214 single base substitution G A intron_variant PBCA-DE 11 1481646 1481646 single base substitution C G downstream_gene_variant PBCA-DE 11 1481646 1481646 single base substitution C G intron_variant PBCA-DE 11 1482372 1482372 single base substitution G A 3_prime_UTR_variant PBCA-DE 11 1482372 1482372 single base substitution G A downstream_gene_variant PBCA-DE 11 1482372 1482372 single base substitution G A exon_variant PBCA-DE 11 1486567 1486589 deletion of <=200bp GTGCCCTGGTCTAGAATCAAGGT - downstream_gene_variant PRAD-CA 11 1407552 1407552 single base substitution C T upstream_gene_variant PRAD-CA 11 1415177 1415177 single base substitution C A intron_variant PRAD-CA 11 1415531 1415531 single base substitution C T intron_variant PRAD-CA 11 1416501 1416501 single base substitution C T intron_variant PRAD-CA 11 1417487 1417487 single base substitution C T intron_variant PRAD-CA 11 1417534 1417534 single base substitution A C intron_variant PRAD-CA 11 1432812 1432812 single base substitution C T intron_variant PRAD-CA 11 1432812 1432812 single base substitution C T missense_variant L60F 178C>T PRAD-CA 11 1448031 1448031 single base substitution G A intron_variant PRAD-CA 11 1455442 1455442 single base substitution C A intron_variant PRAD-CA 11 1479439 1479439 single base substitution C T downstream_gene_variant PRAD-CA 11 1479439 1479439 single base substitution C T intron_variant PRAD-UK 11 1408208 1408208 single base substitution C T upstream_gene_variant PRAD-UK 11 1413479 1413479 single base substitution C T intron_variant PRAD-UK 11 1415507 1415507 single base substitution C A intron_variant PRAD-UK 11 1415561 1415561 single base substitution A C intron_variant PRAD-UK 11 1417575 1417575 single base substitution C A intron_variant PRAD-UK 11 1420656 1420656 single base substitution G A intron_variant PRAD-UK 11 1425711 1425711 single base substitution C T intron_variant PRAD-UK 11 1425711 1425711 single base substitution C T upstream_gene_variant PRAD-UK 11 1438424 1438424 single base substitution A G intron_variant PRAD-UK 11 1446169 1446169 single base substitution G A intron_variant PRAD-UK 11 1448816 1448816 single base substitution C T intron_variant PRAD-UK 11 1461123 1461123 single base substitution C T intron_variant PRAD-UK 11 1461123 1461123 single base substitution C T upstream_gene_variant PRAD-UK 11 1461125 1461125 single base substitution C T intron_variant PRAD-UK 11 1461125 1461125 single base substitution C T upstream_gene_variant PRAD-UK 11 1462086 1462086 single base substitution C T exon_variant PRAD-UK 11 1462086 1462086 single base substitution C T missense_variant T114M 341C>T PRAD-UK 11 1462086 1462086 single base substitution C T missense_variant T160M 479C>T PRAD-UK 11 1462086 1462086 single base substitution C T missense_variant T54M 161C>T PRAD-UK 11 1462086 1462086 single base substitution C T upstream_gene_variant PRAD-UK 11 1462213 1462213 single base substitution G A intron_variant PRAD-UK 11 1462213 1462213 single base substitution G A upstream_gene_variant PRAD-UK 11 1478272 1478272 single base substitution G T 3_prime_UTR_variant PRAD-UK 11 1478272 1478272 single base substitution G T downstream_gene_variant PRAD-UK 11 1478272 1478272 single base substitution G T exon_variant PRAD-UK 11 1478272 1478272 single base substitution G T intron_variant READ-US 11 1466584 1466584 single base substitution G A 3_prime_UTR_variant READ-US 11 1466584 1466584 single base substitution G A 5_prime_UTR_variant READ-US 11 1466584 1466584 single base substitution G A downstream_gene_variant READ-US 11 1466584 1466584 single base substitution G A exon_variant READ-US 11 1466584 1466584 single base substitution G A synonymous_variant S231S 693G>A READ-US 11 1466584 1466584 single base substitution G A synonymous_variant S291S 873G>A READ-US 11 1466584 1466584 single base substitution G A synonymous_variant S337S 1011G>A RECA-EU 11 1421742 1421742 single base substitution G A intron_variant RECA-EU 11 1464887 1464887 single base substitution C A downstream_gene_variant RECA-EU 11 1464887 1464887 single base substitution C A intron_variant RECA-EU 11 1469624 1469624 single base substitution C T downstream_gene_variant RECA-EU 11 1469624 1469624 single base substitution C T intron_variant RECA-EU 11 1469624 1469624 single base substitution C T upstream_gene_variant RECA-EU 11 1482702 1482702 single base substitution G T 3_prime_UTR_variant RECA-EU 11 1482702 1482702 single base substitution G T downstream_gene_variant RECA-EU 11 1482702 1482702 single base substitution G T exon_variant RECA-EU 11 1486494 1486494 single base substitution G A downstream_gene_variant SKCA-BR 11 1407355 1407355 single base substitution G A upstream_gene_variant SKCA-BR 11 1409454 1409454 single base substitution C T upstream_gene_variant SKCA-BR 11 1410380 1410380 single base substitution T C upstream_gene_variant SKCA-BR 11 1411481 1411481 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 11 1411481 1411481 single base substitution C T upstream_gene_variant SKCA-BR 11 1411501 1411501 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 11 1411501 1411501 single base substitution C T upstream_gene_variant SKCA-BR 11 1413492 1413492 single base substitution G A intron_variant SKCA-BR 11 1416459 1416459 single base substitution G A intron_variant SKCA-BR 11 1417411 1417411 single base substitution C G intron_variant SKCA-BR 11 1417415 1417415 single base substitution T C intron_variant SKCA-BR 11 1417487 1417487 single base substitution C T intron_variant SKCA-BR 11 1420325 1420325 single base substitution T G intron_variant SKCA-BR 11 1421921 1421921 single base substitution C T intron_variant SKCA-BR 11 1422469 1422469 single base substitution G A intron_variant SKCA-BR 11 1422713 1422713 single base substitution G A intron_variant SKCA-BR 11 1425672 1425672 single base substitution A C intron_variant SKCA-BR 11 1425672 1425672 single base substitution A C upstream_gene_variant SKCA-BR 11 1428442 1428442 single base substitution C T intron_variant SKCA-BR 11 1428442 1428442 single base substitution C T upstream_gene_variant SKCA-BR 11 1428704 1428704 single base substitution C T intron_variant SKCA-BR 11 1428704 1428704 single base substitution C T upstream_gene_variant SKCA-BR 11 1430006 1430012 deletion of <=200bp TGTTTGG - intron_variant SKCA-BR 11 1430006 1430012 deletion of <=200bp TGTTTGG - upstream_gene_variant SKCA-BR 11 1430007 1430007 single base substitution G T intron_variant SKCA-BR 11 1430007 1430007 single base substitution G T upstream_gene_variant SKCA-BR 11 1430198 1430198 single base substitution G A intron_variant SKCA-BR 11 1430198 1430198 single base substitution G A upstream_gene_variant SKCA-BR 11 1430214 1430218 deletion of <=200bp GTGTA - intron_variant SKCA-BR 11 1430214 1430218 deletion of <=200bp GTGTA - upstream_gene_variant SKCA-BR 11 1431139 1431139 single base substitution C T intron_variant SKCA-BR 11 1431139 1431139 single base substitution C T upstream_gene_variant SKCA-BR 11 1431526 1431526 single base substitution G A intron_variant SKCA-BR 11 1431526 1431526 single base substitution G A upstream_gene_variant SKCA-BR 11 1433648 1433648 single base substitution T C intron_variant SKCA-BR 11 1433696 1433696 single base substitution T C intron_variant SKCA-BR 11 1433717 1433717 single base substitution T C intron_variant SKCA-BR 11 1433720 1433720 single base substitution T C intron_variant SKCA-BR 11 1433736 1433736 single base substitution T G intron_variant SKCA-BR 11 1433741 1433741 single base substitution A G intron_variant SKCA-BR 11 1434067 1434067 single base substitution C T intron_variant SKCA-BR 11 1434271 1434271 single base substitution T C intron_variant SKCA-BR 11 1434948 1434948 single base substitution A G intron_variant SKCA-BR 11 1435379 1435379 single base substitution C T intron_variant SKCA-BR 11 1437001 1437019 deletion of <=200bp GTGGTCCCAGCAGAGGACT - intron_variant SKCA-BR 11 1437322 1437322 single base substitution C T intron_variant SKCA-BR 11 1438629 1438629 single base substitution C T intron_variant SKCA-BR 11 1439043 1439043 insertion of <=200bp - CA intron_variant SKCA-BR 11 1439275 1439275 single base substitution T G intron_variant SKCA-BR 11 1439755 1439755 single base substitution A C intron_variant SKCA-BR 11 1440479 1440479 single base substitution T C intron_variant SKCA-BR 11 1441341 1441341 single base substitution C T intron_variant SKCA-BR 11 1443093 1443093 single base substitution A C intron_variant SKCA-BR 11 1443480 1443480 single base substitution C T intron_variant SKCA-BR 11 1444889 1444921 deletion of <=200bp CTGCCCCAAGCCTCCCCCGCTGGGCGTTCCGGG - intron_variant SKCA-BR 11 1445884 1445884 single base substitution C T intron_variant SKCA-BR 11 1445967 1445967 insertion of <=200bp - CG intron_variant SKCA-BR 11 1446088 1446088 single base substitution T C intron_variant SKCA-BR 11 1446102 1446102 single base substitution C T intron_variant SKCA-BR 11 1446154 1446154 single base substitution A G intron_variant SKCA-BR 11 1446159 1446159 single base substitution T G intron_variant SKCA-BR 11 1446370 1446370 single base substitution G A intron_variant SKCA-BR 11 1447140 1447140 single base substitution G A intron_variant SKCA-BR 11 1447447 1447471 deletion of <=200bp TGGGGATGTGTGTGGGGCGTGCTCC - intron_variant SKCA-BR 11 1447495 1447495 single base substitution C T intron_variant SKCA-BR 11 1448464 1448464 single base substitution A C intron_variant SKCA-BR 11 1448843 1448843 single base substitution G A intron_variant SKCA-BR 11 1450636 1450636 single base substitution G A intron_variant SKCA-BR 11 1454428 1454428 single base substitution A G intron_variant SKCA-BR 11 1454632 1454632 single base substitution G C intron_variant SKCA-BR 11 1456364 1456364 single base substitution G A intron_variant SKCA-BR 11 1461105 1461105 single base substitution C T intron_variant SKCA-BR 11 1461105 1461105 single base substitution C T upstream_gene_variant SKCA-BR 11 1461230 1461230 single base substitution C T intron_variant SKCA-BR 11 1461230 1461230 single base substitution C T upstream_gene_variant SKCA-BR 11 1462143 1462143 single base substitution A C exon_variant SKCA-BR 11 1462143 1462143 single base substitution A C missense_variant H133P 398A>C SKCA-BR 11 1462143 1462143 single base substitution A C missense_variant H179P 536A>C SKCA-BR 11 1462143 1462143 single base substitution A C missense_variant H73P 218A>C SKCA-BR 11 1462143 1462143 single base substitution A C upstream_gene_variant SKCA-BR 11 1466312 1466312 single base substitution A G downstream_gene_variant SKCA-BR 11 1466312 1466312 single base substitution A G intron_variant SKCA-BR 11 1467042 1467042 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 1467042 1467042 single base substitution G A downstream_gene_variant SKCA-BR 11 1467042 1467042 single base substitution G A exon_variant SKCA-BR 11 1467042 1467042 single base substitution G A synonymous_variant R317R 951G>A SKCA-BR 11 1467042 1467042 single base substitution G A synonymous_variant R377R 1131G>A SKCA-BR 11 1467042 1467042 single base substitution G A synonymous_variant R423R 1269G>A SKCA-BR 11 1467042 1467042 single base substitution G A synonymous_variant R72R 216G>A SKCA-BR 11 1467042 1467042 single base substitution G A upstream_gene_variant SKCA-BR 11 1467276 1467291 deletion of <=200bp AGCTGGGCTGGGCTGG - downstream_gene_variant SKCA-BR 11 1467276 1467291 deletion of <=200bp AGCTGGGCTGGGCTGG - intron_variant SKCA-BR 11 1467276 1467291 deletion of <=200bp AGCTGGGCTGGGCTGG - upstream_gene_variant SKCA-BR 11 1467285 1467285 single base substitution G T downstream_gene_variant SKCA-BR 11 1467285 1467285 single base substitution G T intron_variant SKCA-BR 11 1467285 1467285 single base substitution G T upstream_gene_variant SKCA-BR 11 1471756 1471756 single base substitution G C downstream_gene_variant SKCA-BR 11 1471756 1471756 single base substitution G C intron_variant SKCA-BR 11 1471756 1471756 single base substitution G C upstream_gene_variant SKCA-BR 11 1472091 1472091 single base substitution C T intron_variant SKCA-BR 11 1472091 1472091 single base substitution C T upstream_gene_variant SKCA-BR 11 1473045 1473045 single base substitution G A intron_variant SKCA-BR 11 1473045 1473045 single base substitution G A upstream_gene_variant SKCA-BR 11 1474555 1474555 single base substitution T C intron_variant SKCA-BR 11 1474555 1474555 single base substitution T C upstream_gene_variant SKCA-BR 11 1475319 1475319 single base substitution C T exon_variant SKCA-BR 11 1475319 1475319 single base substitution C T intron_variant SKCA-BR 11 1475319 1475319 single base substitution C T upstream_gene_variant SKCA-BR 11 1475388 1475388 insertion of <=200bp - GGGGGGGCTCACCTGT exon_variant SKCA-BR 11 1475388 1475388 insertion of <=200bp - GGGGGGGCTCACCTGT intron_variant SKCA-BR 11 1475388 1475388 insertion of <=200bp - GGGGGGGCTCACCTGT upstream_gene_variant SKCA-BR 11 1475388 1475388 insertion of <=200bp - GGGGGGGCTTACCTGT exon_variant SKCA-BR 11 1475388 1475388 insertion of <=200bp - GGGGGGGCTTACCTGT intron_variant SKCA-BR 11 1475388 1475388 insertion of <=200bp - GGGGGGGCTTACCTGT upstream_gene_variant SKCA-BR 11 1479466 1479466 single base substitution T C downstream_gene_variant SKCA-BR 11 1479466 1479466 single base substitution T C intron_variant SKCA-BR 11 1481911 1481911 single base substitution G A downstream_gene_variant SKCA-BR 11 1481911 1481911 single base substitution G A intron_variant SKCA-BR 11 1481911 1481911 single base substitution G A synonymous_variant T723T 2169G>A SKCA-BR 11 1481911 1481911 single base substitution G A synonymous_variant T753T 2259G>A SKCA-BR 11 1483543 1483543 single base substitution A G 3_prime_UTR_variant SKCA-BR 11 1483543 1483543 single base substitution A G downstream_gene_variant SKCA-BR 11 1484816 1484816 single base substitution C T downstream_gene_variant SKCA-BR 11 1487018 1487018 single base substitution G A downstream_gene_variant SKCM-US 11 1432751 1432751 single base substitution G A intron_variant SKCM-US 11 1432751 1432751 single base substitution G A synonymous_variant G39G 117G>A SKCM-US 11 1432786 1432786 single base substitution C T intron_variant SKCM-US 11 1432786 1432786 single base substitution C T missense_variant P51L 152C>T SKCM-US 11 1459553 1459553 single base substitution G A exon_variant SKCM-US 11 1459553 1459553 single base substitution G A synonymous_variant A114A 342G>A SKCM-US 11 1459553 1459553 single base substitution G A synonymous_variant A68A 204G>A SKCM-US 11 1459553 1459553 single base substitution G A synonymous_variant A8A 24G>A SKCM-US 11 1459553 1459553 single base substitution G A upstream_gene_variant SKCM-US 11 1462076 1462076 single base substitution G A exon_variant SKCM-US 11 1462076 1462076 single base substitution G A missense_variant G111R 331G>A SKCM-US 11 1462076 1462076 single base substitution G A missense_variant G157R 469G>A SKCM-US 11 1462076 1462076 single base substitution G A missense_variant G51R 151G>A SKCM-US 11 1462076 1462076 single base substitution G A upstream_gene_variant SKCM-US 11 1466554 1466554 single base substitution G A 3_prime_UTR_variant SKCM-US 11 1466554 1466554 single base substitution G A 5_prime_UTR_variant SKCM-US 11 1466554 1466554 single base substitution G A downstream_gene_variant SKCM-US 11 1466554 1466554 single base substitution G A exon_variant SKCM-US 11 1466554 1466554 single base substitution G A synonymous_variant Q221Q 663G>A SKCM-US 11 1466554 1466554 single base substitution G A synonymous_variant Q281Q 843G>A SKCM-US 11 1466554 1466554 single base substitution G A synonymous_variant Q327Q 981G>A SKCM-US 11 1466993 1466993 single base substitution C T 3_prime_UTR_variant SKCM-US 11 1466993 1466993 single base substitution C T downstream_gene_variant SKCM-US 11 1466993 1466993 single base substitution C T exon_variant SKCM-US 11 1466993 1466993 single base substitution C T missense_variant P301L 902C>T SKCM-US 11 1466993 1466993 single base substitution C T missense_variant P361L 1082C>T SKCM-US 11 1466993 1466993 single base substitution C T missense_variant P407L 1220C>T SKCM-US 11 1466993 1466993 single base substitution C T missense_variant P56L 167C>T SKCM-US 11 1466993 1466993 single base substitution C T upstream_gene_variant SKCM-US 11 1467007 1467007 single base substitution G A 3_prime_UTR_variant SKCM-US 11 1467007 1467007 single base substitution G A downstream_gene_variant SKCM-US 11 1467007 1467007 single base substitution G A exon_variant SKCM-US 11 1467007 1467007 single base substitution G A missense_variant D306N 916G>A SKCM-US 11 1467007 1467007 single base substitution G A missense_variant D366N 1096G>A SKCM-US 11 1467007 1467007 single base substitution G A missense_variant D412N 1234G>A SKCM-US 11 1467007 1467007 single base substitution G A missense_variant D61N 181G>A SKCM-US 11 1467007 1467007 single base substitution G A upstream_gene_variant SKCM-US 11 1467078 1467078 single base substitution G A 3_prime_UTR_variant SKCM-US 11 1467078 1467078 single base substitution G A downstream_gene_variant SKCM-US 11 1467078 1467078 single base substitution G A exon_variant SKCM-US 11 1467078 1467078 single base substitution G A synonymous_variant T329T 987G>A SKCM-US 11 1467078 1467078 single base substitution G A synonymous_variant T389T 1167G>A SKCM-US 11 1467078 1467078 single base substitution G A synonymous_variant T435T 1305G>A SKCM-US 11 1467078 1467078 single base substitution G A synonymous_variant T84T 252G>A SKCM-US 11 1467078 1467078 single base substitution G A upstream_gene_variant SKCM-US 11 1471065 1471065 single base substitution G A downstream_gene_variant SKCM-US 11 1471065 1471065 single base substitution G A missense_variant R124Q 371G>A SKCM-US 11 1471065 1471065 single base substitution G A missense_variant R369Q 1106G>A SKCM-US 11 1471065 1471065 single base substitution G A missense_variant R429Q 1286G>A SKCM-US 11 1471065 1471065 single base substitution G A missense_variant R451Q 1352G>A SKCM-US 11 1471065 1471065 single base substitution G A missense_variant R475Q 1424G>A SKCM-US 11 1471065 1471065 single base substitution G A splice_region_variant SKCM-US 11 1471065 1471065 single base substitution G A upstream_gene_variant SKCM-US 11 1471927 1471927 single base substitution C T 3_prime_UTR_variant SKCM-US 11 1471927 1471927 single base substitution C T exon_variant SKCM-US 11 1471927 1471927 single base substitution C T synonymous_variant S161S 483C>T SKCM-US 11 1471927 1471927 single base substitution C T synonymous_variant S406S 1218C>T SKCM-US 11 1471927 1471927 single base substitution C T synonymous_variant S466S 1398C>T SKCM-US 11 1471927 1471927 single base substitution C T synonymous_variant S488S 1464C>T SKCM-US 11 1471927 1471927 single base substitution C T synonymous_variant S4S 12C>T SKCM-US 11 1471927 1471927 single base substitution C T synonymous_variant S512S 1536C>T SKCM-US 11 1471927 1471927 single base substitution C T upstream_gene_variant SKCM-US 11 1471968 1471968 single base substitution A G 3_prime_UTR_variant SKCM-US 11 1471968 1471968 single base substitution A G exon_variant SKCM-US 11 1471968 1471968 single base substitution A G missense_variant N175S 524A>G SKCM-US 11 1471968 1471968 single base substitution A G missense_variant N18S 53A>G SKCM-US 11 1471968 1471968 single base substitution A G missense_variant N420S 1259A>G SKCM-US 11 1471968 1471968 single base substitution A G missense_variant N480S 1439A>G SKCM-US 11 1471968 1471968 single base substitution A G missense_variant N502S 1505A>G SKCM-US 11 1471968 1471968 single base substitution A G missense_variant N526S 1577A>G SKCM-US 11 1471968 1471968 single base substitution A G upstream_gene_variant STAD-US 11 1467040 1467040 single base substitution C T 3_prime_UTR_variant STAD-US 11 1467040 1467040 single base substitution C T downstream_gene_variant STAD-US 11 1467040 1467040 single base substitution C T exon_variant STAD-US 11 1467040 1467040 single base substitution C T missense_variant R317W 949C>T STAD-US 11 1467040 1467040 single base substitution C T missense_variant R377W 1129C>T STAD-US 11 1467040 1467040 single base substitution C T missense_variant R423W 1267C>T STAD-US 11 1467040 1467040 single base substitution C T missense_variant R72W 214C>T STAD-US 11 1467040 1467040 single base substitution C T upstream_gene_variant STAD-US 11 1467138 1467139 deletion of <=200bp GT - downstream_gene_variant STAD-US 11 1467138 1467139 deletion of <=200bp GT - splice_donor_variant STAD-US 11 1467138 1467139 deletion of <=200bp GT - upstream_gene_variant STAD-US 11 1471011 1471011 single base substitution G A 3_prime_UTR_variant STAD-US 11 1471011 1471011 single base substitution G A downstream_gene_variant STAD-US 11 1471011 1471011 single base substitution G A exon_variant STAD-US 11 1471011 1471011 single base substitution G A missense_variant R106Q 317G>A STAD-US 11 1471011 1471011 single base substitution G A missense_variant R351Q 1052G>A STAD-US 11 1471011 1471011 single base substitution G A missense_variant R411Q 1232G>A STAD-US 11 1471011 1471011 single base substitution G A missense_variant R433Q 1298G>A STAD-US 11 1471011 1471011 single base substitution G A missense_variant R457Q 1370G>A STAD-US 11 1471011 1471011 single base substitution G A upstream_gene_variant STAD-US 11 1472605 1472605 single base substitution G A 3_prime_UTR_variant STAD-US 11 1472605 1472605 single base substitution G A exon_variant STAD-US 11 1472605 1472605 single base substitution G A synonymous_variant P195P 585G>A STAD-US 11 1472605 1472605 single base substitution G A synonymous_variant P38P 114G>A STAD-US 11 1472605 1472605 single base substitution G A synonymous_variant P440P 1320G>A STAD-US 11 1472605 1472605 single base substitution G A synonymous_variant P500P 1500G>A STAD-US 11 1472605 1472605 single base substitution G A synonymous_variant P522P 1566G>A STAD-US 11 1472605 1472605 single base substitution G A synonymous_variant P546P 1638G>A STAD-US 11 1472605 1472605 single base substitution G A upstream_gene_variant STAD-US 11 1475826 1475826 single base substitution C T 3_prime_UTR_variant STAD-US 11 1475826 1475826 single base substitution C T exon_variant STAD-US 11 1475826 1475826 single base substitution C T synonymous_variant H247H 741C>T STAD-US 11 1475826 1475826 single base substitution C T synonymous_variant H492H 1476C>T STAD-US 11 1475826 1475826 single base substitution C T synonymous_variant H552H 1656C>T STAD-US 11 1475826 1475826 single base substitution C T synonymous_variant H574H 1722C>T STAD-US 11 1475826 1475826 single base substitution C T synonymous_variant H598H 1794C>T STAD-US 11 1475826 1475826 single base substitution C T synonymous_variant H90H 270C>T STAD-US 11 1477636 1477636 single base substitution C A 3_prime_UTR_variant STAD-US 11 1477636 1477636 single base substitution C A exon_variant STAD-US 11 1477636 1477636 single base substitution C A missense_variant A114D 341C>A STAD-US 11 1477636 1477636 single base substitution C A missense_variant A271D 812C>A STAD-US 11 1477636 1477636 single base substitution C A missense_variant A516D 1547C>A STAD-US 11 1477636 1477636 single base substitution C A missense_variant A576D 1727C>A STAD-US 11 1477636 1477636 single base substitution C A missense_variant A598D 1793C>A STAD-US 11 1477636 1477636 single base substitution C A missense_variant A622D 1865C>A THCA-SA 11 1481930 1481930 single base substitution A G downstream_gene_variant THCA-SA 11 1481930 1481930 single base substitution A G intron_variant THCA-SA 11 1481930 1481930 single base substitution A G missense_variant T730A 2188A>G THCA-SA 11 1481930 1481930 single base substitution A G missense_variant T760A 2278A>G UCEC-US 11 1459596 1459596 single base substitution G A exon_variant UCEC-US 11 1459596 1459596 single base substitution G A missense_variant D129N 385G>A UCEC-US 11 1459596 1459596 single base substitution G A missense_variant D23N 67G>A UCEC-US 11 1459596 1459596 single base substitution G A missense_variant D83N 247G>A UCEC-US 11 1459596 1459596 single base substitution G A upstream_gene_variant UCEC-US 11 1462146 1462146 single base substitution G A exon_variant UCEC-US 11 1462146 1462146 single base substitution G A missense_variant S134N 401G>A UCEC-US 11 1462146 1462146 single base substitution G A missense_variant S180N 539G>A UCEC-US 11 1462146 1462146 single base substitution G A missense_variant S74N 221G>A UCEC-US 11 1462146 1462146 single base substitution G A upstream_gene_variant UCEC-US 11 1463781 1463781 single base substitution G T 5_prime_UTR_variant UCEC-US 11 1463781 1463781 single base substitution G T downstream_gene_variant UCEC-US 11 1463781 1463781 single base substitution G T exon_variant UCEC-US 11 1463781 1463781 single base substitution G T missense_variant D159Y 475G>T UCEC-US 11 1463781 1463781 single base substitution G T missense_variant D205Y 613G>T UCEC-US 11 1463781 1463781 single base substitution G T missense_variant D99Y 295G>T UCEC-US 11 1466579 1466579 single base substitution C T 3_prime_UTR_variant UCEC-US 11 1466579 1466579 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 11 1466579 1466579 single base substitution C T downstream_gene_variant UCEC-US 11 1466579 1466579 single base substitution C T exon_variant UCEC-US 11 1466579 1466579 single base substitution C T missense_variant R230C 688C>T UCEC-US 11 1466579 1466579 single base substitution C T missense_variant R290C 868C>T UCEC-US 11 1466579 1466579 single base substitution C T missense_variant R336C 1006C>T UCEC-US 11 1466584 1466584 single base substitution G A 3_prime_UTR_variant UCEC-US 11 1466584 1466584 single base substitution G A 5_prime_UTR_variant UCEC-US 11 1466584 1466584 single base substitution G A downstream_gene_variant UCEC-US 11 1466584 1466584 single base substitution G A exon_variant UCEC-US 11 1466584 1466584 single base substitution G A synonymous_variant S231S 693G>A UCEC-US 11 1466584 1466584 single base substitution G A synonymous_variant S291S 873G>A UCEC-US 11 1466584 1466584 single base substitution G A synonymous_variant S337S 1011G>A UCEC-US 11 1466600 1466600 single base substitution G T 3_prime_UTR_variant UCEC-US 11 1466600 1466600 single base substitution G T 5_prime_UTR_variant UCEC-US 11 1466600 1466600 single base substitution G T downstream_gene_variant UCEC-US 11 1466600 1466600 single base substitution G T exon_variant UCEC-US 11 1466600 1466600 single base substitution G T missense_variant D237Y 709G>T UCEC-US 11 1466600 1466600 single base substitution G T missense_variant D297Y 889G>T UCEC-US 11 1466600 1466600 single base substitution G T missense_variant D343Y 1027G>T UCEC-US 11 1466606 1466606 single base substitution G A 3_prime_UTR_variant UCEC-US 11 1466606 1466606 single base substitution G A 5_prime_UTR_variant UCEC-US 11 1466606 1466606 single base substitution G A downstream_gene_variant UCEC-US 11 1466606 1466606 single base substitution G A exon_variant UCEC-US 11 1466606 1466606 single base substitution G A missense_variant D239N 715G>A UCEC-US 11 1466606 1466606 single base substitution G A missense_variant D299N 895G>A UCEC-US 11 1466606 1466606 single base substitution G A missense_variant D345N 1033G>A UCEC-US 11 1466873 1466873 single base substitution G T 3_prime_UTR_variant UCEC-US 11 1466873 1466873 single base substitution G T downstream_gene_variant UCEC-US 11 1466873 1466873 single base substitution G T exon_variant UCEC-US 11 1466873 1466873 single base substitution G T missense_variant E290D 870G>T UCEC-US 11 1466873 1466873 single base substitution G T missense_variant E350D 1050G>T UCEC-US 11 1466873 1466873 single base substitution G T missense_variant E396D 1188G>T UCEC-US 11 1466873 1466873 single base substitution G T missense_variant E45D 135G>T UCEC-US 11 1475826 1475826 single base substitution C T 3_prime_UTR_variant UCEC-US 11 1475826 1475826 single base substitution C T exon_variant UCEC-US 11 1475826 1475826 single base substitution C T synonymous_variant H247H 741C>T UCEC-US 11 1475826 1475826 single base substitution C T synonymous_variant H492H 1476C>T UCEC-US 11 1475826 1475826 single base substitution C T synonymous_variant H552H 1656C>T UCEC-US 11 1475826 1475826 single base substitution C T synonymous_variant H574H 1722C>T UCEC-US 11 1475826 1475826 single base substitution C T synonymous_variant H598H 1794C>T UCEC-US 11 1475826 1475826 single base substitution C T synonymous_variant H90H 270C>T UCEC-US 11 1477726 1477726 single base substitution G C 3_prime_UTR_variant UCEC-US 11 1477726 1477726 single base substitution G C exon_variant UCEC-US 11 1477726 1477726 single base substitution G C missense_variant G144A 431G>C UCEC-US 11 1477726 1477726 single base substitution G C missense_variant G301A 902G>C UCEC-US 11 1477726 1477726 single base substitution G C missense_variant G546A 1637G>C UCEC-US 11 1477726 1477726 single base substitution G C missense_variant G606A 1817G>C UCEC-US 11 1477726 1477726 single base substitution G C missense_variant G628A 1883G>C UCEC-US 11 1477726 1477726 single base substitution G C missense_variant G652A 1955G>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T26 COSM5341452 c.832G>A p.E278K Substitution - Missense 11:1445313-1445313 + ZZUFHECRKL-G002T COSM5437293 c.186+6T>G p.? Unknown 11:1436140-1436140 + 1N56-VS-1T56 COSM4977154 c.1411G>C p.G471R Substitution - Missense 11:1450710-1450710 + 0012_CRUK_PC_0012_T1_DNA COSM5421465 c.341C>T p.T114M Substitution - Missense 11:1440856-1440856 + TCGA-C5-A1MH-01 COSM4821017 c.665G>A p.R222Q Substitution - Missense 11:1443520-1443520 + TCGA-B6-A0WW-01 COSM5214205 c.1239C>T p.I413I Substitution - coding silent 11:1449788-1449788 + CHC1734T COSM4800882 c.23G>T p.G8V Substitution - Missense 11:1390307-1390307 + SC_9068 COSM5571601 c.1610T>C p.V537A Substitution - Missense 11:1454550-1454550 + I2L-P7-Tumor-Organoid COSM5361049 c.1611C>T p.V537V Substitution - coding silent 11:1454551-1454551 + sysucc-1072T COSM5482833 c.2188A>G p.T730A Substitution - Missense 11:1460700-1460700 + I2L-P7-Tumor-Organoid COSM5361123 c.455A>G p.K152R Substitution - Missense 11:1442531-1442531 + TCGA-EP-A2KC-01 COSM4913788 c.820A>G p.K274E Substitution - Missense 11:1445301-1445301 + TCGA-MI-A75G-01 COSM4939901 c.643C>T p.P215S Substitution - Missense 11:1443498-1443498 + TCGA-A6-5661-01 COSM5088730 c.1972C>T p.R658W Substitution - Missense 11:1459224-1459224 + TCGA-AZ-6598-01 COSM5136314 c.1057delC p.R355fs*4 Deletion - Frameshift 11:1445650-1445650 + I2L-P24Tb-Tumor-Organoid COSM5360887 c.1787C>T p.T596M Substitution - Missense 11:1456466-1456466 + I2L-P7-Tumor-Organoid COSM5136314 c.1057delC p.R355fs*4 Deletion - Frameshift 11:1445650-1445650 + BD57T COSM5510486 c.742C>T p.R248W Substitution - Missense 11:1443597-1443597 + STC291 COSM5050689 c.1364G>A p.S455N Substitution - Missense 11:1450663-1450663 + TCGA-AR-A24Q-01 COSM5212189 c.493C>A p.L165M Substitution - Missense 11:1442569-1442569 + Pat_06_B COSM5838231 c.1281delC p.R429fs*2 Deletion - Frameshift 11:1449830-1449830 + TCGA-A6-5665-01 COSM5089744 c.1052A>T p.D351V Substitution - Missense 11:1445645-1445645 + PTC_448 COSM5482833 c.2188A>G p.T730A Substitution - Missense 11:1460700-1460700 + ZZUFHECRKL-G002T COSM5437288 c.186+2T>G p.? Unknown 11:1436136-1436136 + TCGA-BH-A1F8-01 COSM5219787 c.1005C>T p.F335F Substitution - coding silent 11:1445598-1445598 + YUKAT COSM5372133 c.1211C>T p.A404V Substitution - Missense 11:1445892-1445892 + CHC1717T COSM4802036 c.538C>T p.H180Y Substitution - Missense 11:1443113-1443113 + LP6005334-DNA_G03 COSM5036341 c.1178C>T p.S393F Substitution - Missense 11:1445859-1445859 + TCGA-C8-A1HJ-01 COSM5221405 c.241C>A p.L81M Substitution - Missense 11:1438360-1438360 + YUNEKI COSM5372128 c.533C>T p.S178F Substitution - Missense 11:1443108-1443108 + PD13164a COSM5793909 c.1934T>C p.L645S Substitution - Missense 11:1456682-1456682 + TCGA-FU-A3HZ-01 COSM4838786 c.268T>G p.Y90D Substitution - Missense 11:1438387-1438387 + 61 COSM5739131 c.2159G>A p.G720D Substitution - Missense 11:1460671-1460671 + CHC1734T COSM4800882 c.23G>T p.G8V Substitution - Missense 11:1390307-1390307 + TCGA-CC-A5UE-01 COSM4933896 c.936C>A p.F312L Substitution - Missense 11:1445417-1445417 + TCGA-EA-A5ZF-01 COSM4838198 c.1283C>A p.P428H Substitution - Missense 11:1449832-1449832 + TCGA-AA-3510-01 COSM5098918 c.815G>T p.G272V Substitution - Missense 11:1445296-1445296 + TCGA-AF-6672-01 COSM5065985 c.873G>A p.S291S Substitution - coding silent 11:1445354-1445354 + TCGA-AU-6004-01 COSM5135511 c.1583T>C p.L528P Substitution - Missense 11:1454523-1454523 + TCGA-D5-6928-01 COSM5165514 c.37G>A p.A13T Substitution - Missense 11:1390321-1390321 + TCGA-AO-A0J7-01 COSM5831716 c.1056_1057insC p.R355fs*48 Insertion - Frameshift 11:1445649-1445650 + TCGA-D8-A1J8-01 COSM5222918 c.330delG p.R112fs*2 Deletion - Frameshift 11:1440845-1440845 + 2530678 COSM5885787 c.2011delG p.D671fs*2 Deletion - Frameshift 11:1460523-1460523 + TCGA-IR-A3LF-01 COSM4849488 c.590C>A p.A197E Substitution - Missense 11:1443360-1443360 + TCGA-CC-5261-01 COSM4933530 c.1535C>T p.S512L Substitution - Missense 11:1451410-1451410 + sysucc-311T COSM5477500 c.1605C>T p.F535F Substitution - coding silent 11:1454545-1454545 + ESCC_71 COSM5634116 c.967C>T p.L323L Substitution - coding silent 11:1445448-1445448 + TCGA-Q1-A73O-01 COSM4834922 c.1158C>A p.L386L Substitution - coding silent 11:1445839-1445839 + GC_337T-GC_337N COSM4771862 c.2023C>A p.Q675K Substitution - Missense 11:1460535-1460535 + DN12105 COSM5793909 c.1934T>C p.L645S Substitution - Missense 11:1456682-1456682 + TCGA-AR-A256-01 COSM5212667 c.595G>T p.V199L Substitution - Missense 11:1443365-1443365 + CHC1717T COSM4802036 c.538C>T p.H180Y Substitution - Missense 11:1443113-1443113 + LP6005334-DNA_G01 COSM5037154 c.2198G>A p.R733H Substitution - Missense 11:1460710-1460710 + TCGA-AY-6197-01 COSM5136314 c.1057delC p.R355fs*4 Deletion - Frameshift 11:1445650-1445650 + TCGA-D8-A1XT-01 COSM5225967 c.1911C>T p.H637H Substitution - coding silent 11:1456659-1456659 + ESCC_131 COSM5642181 c.1847C>T p.S616L Substitution - Missense 11:1456526-1456526 + ATL012 COSM5703927 c.868C>T p.R290C Substitution - Missense 11:1445349-1445349 + sysucc-968T COSM5763923 c.193C>T p.R65W Substitution - Missense 11:1438312-1438312 + TCGA-A6-6781-01 COSM5093592 c.1090C>T p.R364C Substitution - Missense 11:1445771-1445771 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.170779;Hs.170819 11p15.5 609236

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1545-109A>G 11 1475606 DLBCL A G Missense p.N480S c.1439A>G 11 1471968 CM C A Missense p.L165M c.493C>A 11 1463799 BRCA C A Missense p.L81M c.241C>A 11 1459590 BRCA C A Missense p.P293H c.878C>A 11 1466589 LUAD C A Missense p.S387R c.1161C>A 11 1467072 LUSC C A Synonymous p.R65R c.193C>A 11 1459542 LUAD C - Frameshift p.Q405Sfs*26 c.1213delC 11 1467122 LUAD C T IntronicSNV . c.1545-111C>T 11 1475604 CM C T IntronicSNV . c.91+14222C>T 11 1425827 CLL C T Missense p.P361L c.1082C>T 11 1466993 CM C T Missense p.P440L c.1319C>T 11 1471848 CM C T Missense p.R377W c.1129C>T 11 1467040 STAD C T Missense p.R380C c.1138C>T 11 1467049 LUSC C T Missense p.T577M c.1730C>T 11 1477639 LGG C T Synonymous p.A404A c.1212C>T 11 1467123 ESCA C T Synonymous p.F312F c.936C>T 11 1466647 LUSC C T Synonymous p.F335F c.1005C>T 11 1466828 BRCA C T Synonymous p.H637H c.1911C>T 11 1477889 BRCA C T Synonymous p.I413I c.1239C>T 11 1471018 BRCA C T Synonymous p.S466S c.1398C>T 11 1471927 CM G A IntronicSNV . c.1545-104G>A 11 1475611 CM G A Missense p.D366N c.1096G>A 11 1467007 CM G A Missense p.D83N c.247G>A 11 1459596 UCEC G A Missense p.E402K c.1204G>A 11 1467115 HNSC G A Missense p.G177E c.530G>A 11 1463836 CM G A Missense p.G438S c.1312G>A 11 1471841 CM G A Missense p.R429Q c.1286G>A 11 1471065 CM G A Missense p.V582M c.1744G>A 11 1477653 LGG G A Synonymous p.A68A c.204G>A 11 1459553 CM G A Synonymous p.K44K c.132G>A 11 1457310 ESCA G A Synonymous p.K453K c.1359G>A 11 1471888 CM G A Synonymous p.S291S c.873G>A 11 1466584 UCEC G A Synonymous p.T389T c.1167G>A 11 1467078 CM G C Missense p.G606A c.1817G>C 11 1477726 UCEC GCTGGGCTGGGCTGG - IntronicDeletion . c.1226+148_1226+162delGGGCTGGGCTGGGCT 11 1467277 CM - G Frameshift p.P580Afs*13 c.1737dupG 11 1477640 BRCA G T Missense p.D217Y c.649G>T 11 1464734 LUAD G T Missense p.E66D c.198G>T 11 1459547 RCCC G T Missense p.V199L c.595G>T 11 1464595 BRCA T C IntronicSNV . c.1987+8T>C 11 1480477 ESCA T C Missense p.V536A c.1607T>C 11 1475777 HNSC